Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.30071344_30071373dup | CA2677813957 | RNF39 | c.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 |
6 | g.30071344_30071373del | CA2677813958 | RNF39 | c.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 |
6 | g.30071355_30071386del | CA2677813963 | RNF39 | c.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 |
6 | g.30071371_30071379dup | CA2578557434 | RNF39 | c.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 |
6 | g.30071372C>A | CA449767465 | RNF39 | c.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 |
6 | g.30071372C>G | CA449767466 | RNF39 | c.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=) | |
6 | g.30071372C>T | CA449767467 | RNF39 | c.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 |
6 | g.30071373_30071381dup | CA1618576701 | RNF39 | c.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 |
6 | g.30071373A>C | CA363053997 | RNF39 | c.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) | |
6 | g.30071373A>G | CA363053998 | RNF39 | c.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) | |
6 | g.30071373A>T | CA363053999 | RNF39 | c.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) | |
6 | g.30071374C>A | CA363054000 | RNF39 | c.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 |
6 | g.30071374C= | CA1618576702 | RNF39 | c.796G= (p.Val266=) c.771+25G= (n.771+25G=) c.1000G= (p.Val334=) c.975+25G= (n.975+25G=) c.541G= (p.Val181=) | |
6 | g.30071374C>G | CA363054001 | RNF39 | c.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 |
6 | g.30071374C>T | CA363054002 | RNF39 | c.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 |
6 | g.30071375G>A | CA449767468 | RNF39 | c.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 |
6 | g.30071375G>C | CA449767470 | RNF39 | c.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=) | |
6 | g.30071375G>T | CA449767472 | RNF39 | c.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 |
6 | g.30071376G>A | CA363054003 | RNF39 | c.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 |
6 | g.30071376G>C | CA363054004 | RNF39 | c.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) | |
6 | g.30071376G>T | CA363054005 | RNF39 | c.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) | |
6 | g.30071377C>A | CA363054006 | RNF39 | c.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 |
6 | g.30071377C= | CA1618576703 | RNF39 | c.793G= (p.Ala265=) c.771+22G= (n.771+22G=) c.997G= (p.Ala333=) c.975+22G= (n.975+22G=) c.538G= (p.Ala180=) | |
6 | g.30071377C>G | CA363054007 | RNF39 | c.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) | |
6 | g.30071377C>T | CA363054008 | RNF39 | c.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 |
6 | g.30071381dup | CA2677813968 | RNF39 | c.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 |
6 | g.30071381del | CA2677813967 | RNF39 | c.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 |
6 | g.30071378C>A | CA449767475 | RNF39 | c.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=) | |
6 | g.30071378C>G | CA449767476 | RNF39 | c.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=) | |
6 | g.30071378C>T | CA449767477 | RNF39 | c.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 |
6 | g.30071379C>A | CA363054009 | RNF39 | c.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 |
6 | g.30071379C= | CA1618576704 | RNF39 | c.791G= (p.Gly264=) c.771+20G= (n.771+20G=) c.995G= (p.Gly332=) c.975+20G= (n.975+20G=) c.536G= (p.Gly179=) | |
6 | g.30071379C>G | CA363054011 | RNF39 | c.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 |
6 | g.30071379C>T | CA363054010 | RNF39 | c.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 |
6 | g.30071380C>A | CA363054012 | RNF39 | c.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 |
6 | g.30071380C>G | CA363054013 | RNF39 | c.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) | |
6 | g.30071380C>T | CA363054014 | RNF39 | c.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) | |
6 | g.30071381C>A | CA3694367 | RNF39 | c.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 |
6 | g.30071381C= | CA1618576705 | RNF39 | c.789G= (p.Ala263=) c.771+18G= (n.771+18G=) c.993G= (p.Ala331=) c.975+18G= (n.975+18G=) c.534G= (p.Ala178=) | |
6 | g.30071381C>G | CA136035898 | RNF39 | c.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 |
6 | g.30071381C>T | CA3694366 | RNF39 | c.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 |
6 | g.30071382G>A | CA363054015 | RNF39 | c.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 |
6 | g.30071382G>C | CA363054016 | RNF39 | c.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) | |
6 | g.30071382G>T | CA363054017 | RNF39 | c.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 |
6 | g.30071383C>A | CA363054018 | RNF39 | c.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 |
6 | g.30071383C= | CA1618576706 | RNF39 | c.787G= (p.Ala263=) c.771+16G= (n.771+16G=) c.991G= (p.Ala331=) c.975+16G= (n.975+16G=) c.532G= (p.Ala178=) | |
6 | g.30071383C>G | CA363054019 | RNF39 | c.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) | |
6 | g.30071383C>T | CA363054020 | RNF39 | c.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 |
6 | g.30071384A= | CA1618576707 | RNF39 | c.786T= (p.Pro262=) c.771+15T= (n.771+15T=) c.990T= (p.Pro330=) c.975+15T= (n.975+15T=) c.531T= (p.Pro177=) | |
6 | g.30071384A>C | CA3694369 | RNF39 | c.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 |
6 | g.30071384A>G | CA449767483 | RNF39 | c.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 |
6 | g.30071384A>T | CA449767484 | RNF39 | c.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=) | |
6 | g.30071384dup | CA3694368 | RNF39 | c.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 |
6 | g.30071385G>A | CA363054023 | RNF39 | c.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) | |
6 | g.30071385G>C | CA363054021 | RNF39 | c.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) | |
6 | g.30071385G>T | CA363054022 | RNF39 | c.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 |
6 | g.30071386G>A | CA363054024 | RNF39 | c.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 |
6 | g.30071386G>C | CA363054025 | RNF39 | c.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) | |
6 | g.30071386G>T | CA363054026 | RNF39 | c.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 |
6 | g.30071387G>A | CA3694370 | RNF39 | c.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 |
6 | g.30071387G>C | CA363054027 | RNF39 | c.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) | |
6 | g.30071387G= | CA1618576708 | RNF39 | c.783C= (p.Cys261=) c.771+12C= (n.771+12C=) c.987C= (p.Cys329=) c.975+12C= (n.975+12C=) c.528C= (p.Cys176=) | |
6 | g.30071387G>T | CA363054028 | RNF39 | c.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 |
6 | g.30071388C>A | CA363054029 | RNF39 | c.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 |
6 | g.30071388C>G | CA363054030 | RNF39 | c.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) | |
6 | g.30071388C>T | CA363054031 | RNF39 | c.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 |
6 | g.30071389A>C | CA363054032 | RNF39 | c.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) | |
6 | g.30071389A>G | CA363054033 | RNF39 | c.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) | |
6 | g.30071389A>T | CA363054034 | RNF39 | c.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) | |
6 | g.30071390C>A | CA449767487 | RNF39 | c.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 |
6 | g.30071390C>G | CA449767488 | RNF39 | c.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=) | |
6 | g.30071390C>T | CA449767489 | RNF39 | c.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 |
6 | g.30071391A>C | CA363054035 | RNF39 | c.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) | |
6 | g.30071391A>G | CA363054037 | RNF39 | c.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 |
6 | g.30071391A>T | CA363054036 | RNF39 | c.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 |
6 | g.30071392G>A | CA449767490 | RNF39 | c.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 |
6 | g.30071392G>C | CA363054038 | RNF39 | c.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 |
6 | g.30071392G= | CA1618576710 | RNF39 | c.778C= (p.Leu260=) c.771+7C= (n.771+7C=) c.982C= (p.Leu328=) c.975+7C= (n.975+7C=) c.523C= (p.Leu175=) | |
6 | g.30071392G>T | CA363054039 | RNF39 | c.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 |
6 | g.30071392_30071393delinsGC | CA1618576709 | RNF39 | c.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=) | |
6 | g.30071393C>A | CA363054040 | RNF39 | c.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 |
6 | g.30071393C>G | CA363054041 | RNF39 | c.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) | |
6 | g.30071393C>T | CA449767493 | RNF39 | c.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 |
6 | g.30071394del | CA566293184 | RNF39 | c.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 |
6 | g.30071394C>A | CA363054042 | RNF39 | c.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) | |
6 | g.30071394C>G | CA363054043 | RNF39 | c.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 |
6 | g.30071394C>T | CA363054044 | RNF39 | c.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 |
6 | g.30071395T>A | CA363054046 | RNF39 | c.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 |
6 | g.30071395T>C | CA363054045 | RNF39 | c.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 |
6 | g.30071395T>G | CA449767495 | RNF39 | c.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=) | |
6 | g.30071396T>A | CA449767496 | RNF39 | c.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=) | |
6 | g.30071396T>C | CA449767497 | RNF39 | c.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 |
6 | g.30071396T>G | CA449767498 | RNF39 | c.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=) | |
6 | g.30071397A>C | CA363054047 | RNF39 | c.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) | |
6 | g.30071397A>G | CA363054048 | RNF39 | c.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) | |
6 | g.30071397A>T | CA363054049 | RNF39 | c.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 |
6 | g.30071398C>A | CA363054050 | RNF39 | c.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 |
6 | g.30071398C>G | CA363054051 | RNF39 | c.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 |
6 | g.30071398C>T | CA363054052 | RNF39 | c.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 |
6 | g.30071399G>A | CA3694371 | RNF39 | c.771C>T (p.Cys257=) c.975C>T (p.Cys325=) c.516C>T (p.Cys172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071399G>C | CA363054054 | RNF39 | c.771C>G (p.Cys257Trp) c.975C>G (p.Cys325Trp) c.516C>G (p.Cys172Trp) | gnomAD v4 |
6 | g.30071399G= | CA1618576711 | RNF39 | c.771C= (p.Cys257=) c.975C= (p.Cys325=) c.516C= (p.Cys172=) | |
6 | g.30071399G>T | CA363054053 | RNF39 | c.771C>A (p.Cys257Ter) c.975C>A (p.Cys325Ter) c.516C>A (p.Cys172Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071400C>A | CA363054055 | RNF39 | c.770G>T (p.Cys257Phe) c.974G>T (p.Cys325Phe) c.515G>T (p.Cys172Phe) | gnomAD v4 |
6 | g.30071400C>G | CA363054056 | RNF39 | c.770G>C (p.Cys257Ser) c.974G>C (p.Cys325Ser) c.515G>C (p.Cys172Ser) | |
6 | g.30071400C>T | CA363054057 | RNF39 | c.770G>A (p.Cys257Tyr) c.974G>A (p.Cys325Tyr) c.515G>A (p.Cys172Tyr) | gnomAD v4 |
6 | g.30071400_30071401delinsCA | CA1618576712 | RNF39 | c.769_770delinsTG (p.Cys257=) c.973_974delinsTG (p.Cys325=) c.514_515delinsTG (p.Cys172=) | |
6 | g.30071401del | CA3694372 | RNF39 | c.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 |
6 | g.30071401A>C | CA363054058 | RNF39 | c.769T>G (p.Cys257Gly) c.973T>G (p.Cys325Gly) c.514T>G (p.Cys172Gly) | |
6 | g.30071401A>G | CA363054059 | RNF39 | c.769T>C (p.Cys257Arg) c.973T>C (p.Cys325Arg) c.514T>C (p.Cys172Arg) | gnomAD v4 |
6 | g.30071401A>T | CA363054060 | RNF39 | c.769T>A (p.Cys257Ser) c.973T>A (p.Cys325Ser) c.514T>A (p.Cys172Ser) | |
6 | g.30071402G>A | CA3694373 | RNF39 | c.768C>T (p.Gly256=) c.972C>T (p.Gly324=) c.513C>T (p.Gly171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071402G>C | CA449767501 | RNF39 | c.768C>G (p.Gly256=) c.972C>G (p.Gly324=) c.513C>G (p.Gly171=) | |
6 | g.30071402G= | CA1618576713 | RNF39 | c.768C= (p.Gly256=) c.972C= (p.Gly324=) c.513C= (p.Gly171=) | |
6 | g.30071402G>T | CA449767502 | RNF39 | c.768C>A (p.Gly256=) c.972C>A (p.Gly324=) c.513C>A (p.Gly171=) | gnomAD v4 |
6 | g.30071403C>A | CA363054061 | RNF39 | c.767G>T (p.Gly256Val) c.971G>T (p.Gly324Val) c.512G>T (p.Gly171Val) | gnomAD v4 |
6 | g.30071403C= | CA1618576714 | RNF39 | c.767G= (p.Gly256=) c.971G= (p.Gly324=) c.512G= (p.Gly171=) | |
6 | g.30071403C>G | CA363054062 | RNF39 | c.767G>C (p.Gly256Ala) c.971G>C (p.Gly324Ala) c.512G>C (p.Gly171Ala) | |
6 | g.30071403C>T | CA3694374 | RNF39 | c.767G>A (p.Gly256Asp) c.971G>A (p.Gly324Asp) c.512G>A (p.Gly171Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071404C>A | CA363054063 | RNF39 | c.766G>T (p.Gly256Cys) c.970G>T (p.Gly324Cys) c.511G>T (p.Gly171Cys) | gnomAD v4 |
6 | g.30071404C>G | CA363054065 | RNF39 | c.766G>C (p.Gly256Arg) c.970G>C (p.Gly324Arg) c.511G>C (p.Gly171Arg) | |
6 | g.30071404C>T | CA363054064 | RNF39 | c.766G>A (p.Gly256Ser) c.970G>A (p.Gly324Ser) c.511G>A (p.Gly171Ser) | gnomAD v4 |
6 | g.30071405C>A | CA363054066 | RNF39 | c.765G>T (p.Lys255Asn) c.969G>T (p.Lys323Asn) c.510G>T (p.Lys170Asn) | gnomAD v4 |
6 | g.30071405C= | CA1618576715 | RNF39 | c.765G= (p.Lys255=) c.969G= (p.Lys323=) c.510G= (p.Lys170=) | |
6 | g.30071405C>G | CA363054067 | RNF39 | c.765G>C (p.Lys255Asn) c.969G>C (p.Lys323Asn) c.510G>C (p.Lys170Asn) | |
6 | g.30071405C>T | CA3694375 | RNF39 | c.765G>A (p.Lys255=) c.969G>A (p.Lys323=) c.510G>A (p.Lys170=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071406T>A | CA363054068 | RNF39 | c.764A>T (p.Lys255Met) c.968A>T (p.Lys323Met) c.509A>T (p.Lys170Met) | gnomAD v4 |
6 | g.30071406T>C | CA363054069 | RNF39 | c.764A>G (p.Lys255Arg) c.968A>G (p.Lys323Arg) c.509A>G (p.Lys170Arg) | gnomAD v4 |
6 | g.30071406T>G | CA363054070 | RNF39 | c.764A>C (p.Lys255Thr) c.968A>C (p.Lys323Thr) c.509A>C (p.Lys170Thr) | |
6 | g.30071407del | CA2677813969 | RNF39 | c.764del (p.Lys255ArgfsTer4) c.764del (p.Lys255ArgfsTer?) c.968del (p.Lys323ArgfsTer4) c.968del (p.Lys323ArgfsTer?) c.509del (p.Lys170ArgfsTer4) | gnomAD v4 |
6 | g.30071407T>A | CA363054071 | RNF39 | c.763A>T (p.Lys255Ter) c.967A>T (p.Lys323Ter) c.508A>T (p.Lys170Ter) | dbSNP gnomAD v2 |
6 | g.30071407T>C | CA363054072 | RNF39 | c.763A>G (p.Lys255Glu) c.967A>G (p.Lys323Glu) c.508A>G (p.Lys170Glu) | gnomAD v4 |
6 | g.30071407T>G | CA363054073 | RNF39 | c.763A>C (p.Lys255Gln) c.967A>C (p.Lys323Gln) c.508A>C (p.Lys170Gln) | gnomAD v4 |
6 | g.30071407T= | CA1618576716 | RNF39 | c.763A= (p.Lys255=) c.967A= (p.Lys323=) c.508A= (p.Lys170=) | |
6 | g.30071408G>A | CA449767504 | RNF39 | c.762C>T (p.Arg254=) c.966C>T (p.Arg322=) c.507C>T (p.Arg169=) | |
6 | g.30071408G>C | CA449767505 | RNF39 | c.762C>G (p.Arg254=) c.966C>G (p.Arg322=) c.507C>G (p.Arg169=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071408G= | CA1618576718 | RNF39 | c.762C= (p.Arg254=) c.966C= (p.Arg322=) c.507C= (p.Arg169=) | |
6 | g.30071408G>T | CA449767506 | RNF39 | c.762C>A (p.Arg254=) c.966C>A (p.Arg322=) c.507C>A (p.Arg169=) | gnomAD v4 |
6 | g.30071408dup | CA1618576717 | RNF39 | c.762dup (p.Lys255GlnfsTer?) c.966dup (p.Lys323GlnfsTer?) c.507dup (p.Lys170GlnfsTer?) | dbSNP |
6 | g.30071409C>A | CA363054074 | RNF39 | c.761G>T (p.Arg254Leu) c.965G>T (p.Arg322Leu) c.506G>T (p.Arg169Leu) | dbSNP gnomAD v4 |
6 | g.30071409C= | CA1618576719 | RNF39 | c.761G= (p.Arg254=) c.965G= (p.Arg322=) c.506G= (p.Arg169=) | |
6 | g.30071409C>G | CA363054075 | RNF39 | c.761G>C (p.Arg254Pro) c.965G>C (p.Arg322Pro) c.506G>C (p.Arg169Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071409C>T | CA363054076 | RNF39 | c.761G>A (p.Arg254His) c.965G>A (p.Arg322His) c.506G>A (p.Arg169His) | gnomAD v4 |
6 | g.30071409_30071412del | CA2677813970 | RNF39 | c.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 |
6 | g.30071409_30071410insT | CA136035959 | RNF39 | c.760_761insA (p.Arg254GlnfsTer?) c.964_965insA (p.Arg322GlnfsTer?) c.505_506insA (p.Arg169GlnfsTer?) | dbSNP |
6 | g.30071410G>A | CA363054077 | RNF39 | c.760C>T (p.Arg254Cys) c.964C>T (p.Arg322Cys) c.505C>T (p.Arg169Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071410G>C | CA363054079 | RNF39 | c.760C>G (p.Arg254Gly) c.964C>G (p.Arg322Gly) c.505C>G (p.Arg169Gly) | |
6 | g.30071410G= | CA1618576720 | RNF39 | c.760C= (p.Arg254=) c.964C= (p.Arg322=) c.505C= (p.Arg169=) | |
6 | g.30071410G>T | CA363054078 | RNF39 | c.760C>A (p.Arg254Ser) c.964C>A (p.Arg322Ser) c.505C>A (p.Arg169Ser) | gnomAD v4 |
6 | g.30071411T>A | CA363054080 | RNF39 | c.759A>T (p.Gln253His) c.963A>T (p.Gln321His) c.504A>T (p.Gln168His) | |
6 | g.30071411T>C | CA449767510 | RNF39 | c.759A>G (p.Gln253=) c.963A>G (p.Gln321=) c.504A>G (p.Gln168=) | gnomAD v4 |
6 | g.30071411T>G | CA363054081 | RNF39 | c.759A>C (p.Gln253His) c.963A>C (p.Gln321His) c.504A>C (p.Gln168His) | |
6 | g.30071412T>A | CA363054082 | RNF39 | c.758A>T (p.Gln253Leu) c.962A>T (p.Gln321Leu) c.503A>T (p.Gln168Leu) | |
6 | g.30071412T>C | CA363054083 | RNF39 | c.758A>G (p.Gln253Arg) c.962A>G (p.Gln321Arg) c.503A>G (p.Gln168Arg) | gnomAD v4 |
6 | g.30071412T>G | CA363054084 | RNF39 | c.758A>C (p.Gln253Pro) c.962A>C (p.Gln321Pro) c.503A>C (p.Gln168Pro) | |
6 | g.30071413G>A | CA363054085 | RNF39 | c.757C>T (p.Gln253Ter) c.961C>T (p.Gln321Ter) c.502C>T (p.Gln168Ter) | gnomAD v4 |
6 | g.30071413G>C | CA363054086 | RNF39 | c.757C>G (p.Gln253Glu) c.961C>G (p.Gln321Glu) c.502C>G (p.Gln168Glu) | |
6 | g.30071413G>T | CA363054087 | RNF39 | c.757C>A (p.Gln253Lys) c.961C>A (p.Gln321Lys) c.502C>A (p.Gln168Lys) | gnomAD v4 |
6 | g.30071413_30071414del | CA2677813971 | RNF39 | c.756_757del (p.Gln253ThrfsTer?) c.960_961del (p.Gln321ThrfsTer?) c.501_502del (p.Gln168ThrfsTer?) | gnomAD v4 |
6 | g.30071414C>A | CA449767513 | RNF39 | c.756G>T (p.Val252=) c.960G>T (p.Val320=) c.501G>T (p.Val167=) | gnomAD v4 |
6 | g.30071414C= | CA1618576721 | RNF39 | c.756G= (p.Val252=) c.960G= (p.Val320=) c.501G= (p.Val167=) | |
6 | g.30071414C>G | CA449767512 | RNF39 | c.756G>C (p.Val252=) c.960G>C (p.Val320=) c.501G>C (p.Val167=) | |
6 | g.30071414C>T | CA449767511 | RNF39 | c.756G>A (p.Val252=) c.960G>A (p.Val320=) c.501G>A (p.Val167=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071414_30071415insTTTTTT | CA2677813972 | RNF39 | c.755_756insAAAAAA (p.Val252_Gln253insLysLys) c.959_960insAAAAAA (p.Val320_Gln321insLysLys) c.500_501insAAAAAA (p.Val167_Gln168insLysLys) | gnomAD v4 |
6 | g.30071415A>C | CA363054088 | RNF39 | c.755T>G (p.Val252Gly) c.959T>G (p.Val320Gly) c.500T>G (p.Val167Gly) | |
6 | g.30071415A>G | CA363054089 | RNF39 | c.755T>C (p.Val252Ala) c.959T>C (p.Val320Ala) c.500T>C (p.Val167Ala) | gnomAD v4 |
6 | g.30071415A>T | CA363054090 | RNF39 | c.755T>A (p.Val252Glu) c.959T>A (p.Val320Glu) c.500T>A (p.Val167Glu) | |
6 | g.30071416C>A | CA363054092 | RNF39 | c.754G>T (p.Val252Leu) c.958G>T (p.Val320Leu) c.499G>T (p.Val167Leu) | gnomAD v4 |
6 | g.30071416C>G | CA363054093 | RNF39 | c.754G>C (p.Val252Leu) c.958G>C (p.Val320Leu) c.499G>C (p.Val167Leu) | |
6 | g.30071416C>T | CA363054091 | RNF39 | c.754G>A (p.Val252Met) c.958G>A (p.Val320Met) c.499G>A (p.Val167Met) | gnomAD v4 |
6 | g.30071417T>A | CA449767515 | RNF39 | c.753A>T (p.Ser251=) c.957A>T (p.Ser319=) c.498A>T (p.Ser166=) | |
6 | g.30071417T>C | CA449767516 | RNF39 | c.753A>G (p.Ser251=) c.957A>G (p.Ser319=) c.498A>G (p.Ser166=) | gnomAD v4 |
6 | g.30071417T>G | CA449767517 | RNF39 | c.753A>C (p.Ser251=) c.957A>C (p.Ser319=) c.498A>C (p.Ser166=) | |
6 | g.30071418G>A | CA363054095 | RNF39 | c.752C>T (p.Ser251Leu) c.956C>T (p.Ser319Leu) c.497C>T (p.Ser166Leu) | gnomAD v4 |
6 | g.30071418G>C | CA363054094 | RNF39 | c.752C>G (p.Ser251Ter) c.956C>G (p.Ser319Ter) c.497C>G (p.Ser166Ter) | |
6 | g.30071418G>T | CA363054096 | RNF39 | c.752C>A (p.Ser251Ter) c.956C>A (p.Ser319Ter) c.497C>A (p.Ser166Ter) | gnomAD v4 |
6 | g.30071419A>C | CA363054097 | RNF39 | c.751T>G (p.Ser251Ala) c.955T>G (p.Ser319Ala) c.496T>G (p.Ser166Ala) | |
6 | g.30071419A>G | CA363054098 | RNF39 | c.751T>C (p.Ser251Pro) c.955T>C (p.Ser319Pro) c.496T>C (p.Ser166Pro) | |
6 | g.30071419A>T | CA363054099 | RNF39 | c.751T>A (p.Ser251Thr) c.955T>A (p.Ser319Thr) c.496T>A (p.Ser166Thr) | gnomAD v4 |
6 | g.30071420T>A | CA363054100 | RNF39 | c.750A>T (p.Glu250Asp) c.954A>T (p.Glu318Asp) c.495A>T (p.Glu165Asp) | |
6 | g.30071420T>C | CA449767521 | RNF39 | c.750A>G (p.Glu250=) c.954A>G (p.Glu318=) c.495A>G (p.Glu165=) | gnomAD v4 |
6 | g.30071420T>G | CA363054101 | RNF39 | c.750A>C (p.Glu250Asp) c.954A>C (p.Glu318Asp) c.495A>C (p.Glu165Asp) | |
6 | g.30071421T>A | CA3694376 | RNF39 | c.749A>T (p.Glu250Val) c.953A>T (p.Glu318Val) c.494A>T (p.Glu165Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071421T>C | CA363054103 | RNF39 | c.749A>G (p.Glu250Gly) c.953A>G (p.Glu318Gly) c.494A>G (p.Glu165Gly) | |
6 | g.30071421T>G | CA363054102 | RNF39 | c.749A>C (p.Glu250Ala) c.953A>C (p.Glu318Ala) c.494A>C (p.Glu165Ala) | |
6 | g.30071421T= | CA1618576722 | RNF39 | c.749A= (p.Glu250=) c.953A= (p.Glu318=) c.494A= (p.Glu165=) | |
6 | g.30071421_30071423del | CA2677813973 | RNF39 | c.747_749del (p.Glu250del) c.951_953del (p.Glu318del) c.492_494del (p.Glu165del) | gnomAD v4 |
6 | g.30071422C>A | CA363054104 | RNF39 | c.748G>T (p.Glu250Ter) c.952G>T (p.Glu318Ter) c.493G>T (p.Glu165Ter) | gnomAD v4 |
6 | g.30071422C= | CA1618576723 | RNF39 | c.748G= (p.Glu250=) c.952G= (p.Glu318=) c.493G= (p.Glu165=) | |
6 | g.30071422C>G | CA363054105 | RNF39 | c.748G>C (p.Glu250Gln) c.952G>C (p.Glu318Gln) c.493G>C (p.Glu165Gln) | gnomAD v4 |
6 | g.30071422C>T | CA363054106 | RNF39 | c.748G>A (p.Glu250Lys) c.952G>A (p.Glu318Lys) c.493G>A (p.Glu165Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071425del | CA2677813974 | RNF39 | c.748del (p.Glu250AsnfsTer9) c.748del (p.Glu250AsnfsTer?) c.952del (p.Glu318AsnfsTer9) c.952del (p.Glu318AsnfsTer?) c.493del (p.Glu165AsnfsTer9) | gnomAD v4 |
6 | g.30071423C>A | CA449767522 | RNF39 | c.747G>T (p.Gly249=) c.951G>T (p.Gly317=) c.492G>T (p.Gly164=) | gnomAD v4 |
6 | g.30071423C= | CA1618576724 | RNF39 | c.747G= (p.Gly249=) c.951G= (p.Gly317=) c.492G= (p.Gly164=) | |
6 | g.30071423C>G | CA449767524 | RNF39 | c.747G>C (p.Gly249=) c.951G>C (p.Gly317=) c.492G>C (p.Gly164=) | |
6 | g.30071423C>T | CA449767525 | RNF39 | c.747G>A (p.Gly249=) c.951G>A (p.Gly317=) c.492G>A (p.Gly164=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071424C>A | CA363054107 | RNF39 | c.746G>T (p.Gly249Val) c.950G>T (p.Gly317Val) c.491G>T (p.Gly164Val) | gnomAD v4 |
6 | g.30071424C= | CA1618576725 | RNF39 | c.746G= (p.Gly249=) c.950G= (p.Gly317=) c.491G= (p.Gly164=) | |
6 | g.30071424C>G | CA363054108 | RNF39 | c.746G>C (p.Gly249Ala) c.950G>C (p.Gly317Ala) c.491G>C (p.Gly164Ala) | dbSNP gnomAD v2 |
6 | g.30071424C>T | CA363054109 | RNF39 | c.746G>A (p.Gly249Glu) c.950G>A (p.Gly317Glu) c.491G>A (p.Gly164Glu) | gnomAD v4 |
6 | g.30071425C>A | CA136035966 | RNF39 | c.745G>T (p.Gly249Trp) c.949G>T (p.Gly317Trp) c.490G>T (p.Gly164Trp) | dbSNP gnomAD v4 |
6 | g.30071425C= | CA1618576726 | RNF39 | c.745G= (p.Gly249=) c.949G= (p.Gly317=) c.490G= (p.Gly164=) | |
6 | g.30071425C>G | CA363054110 | RNF39 | c.745G>C (p.Gly249Arg) c.949G>C (p.Gly317Arg) c.490G>C (p.Gly164Arg) | gnomAD v4 |
6 | g.30071425C>T | CA3694377 | RNF39 | c.745G>A (p.Gly249Arg) c.949G>A (p.Gly317Arg) c.490G>A (p.Gly164Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071426G>A | CA449767527 | RNF39 | c.744C>T (p.Ala248=) c.948C>T (p.Ala316=) c.489C>T (p.Ala163=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071426G>C | CA449767528 | RNF39 | c.744C>G (p.Ala248=) c.948C>G (p.Ala316=) c.489C>G (p.Ala163=) | gnomAD v4 |
6 | g.30071426G= | CA1618576727 | RNF39 | c.744C= (p.Ala248=) c.948C= (p.Ala316=) c.489C= (p.Ala163=) | |
6 | g.30071426G>T | CA449767529 | RNF39 | c.744C>A (p.Ala248=) c.948C>A (p.Ala316=) c.489C>A (p.Ala163=) | gnomAD v4 |
6 | g.30071427G>A | CA363054111 | RNF39 | c.743C>T (p.Ala248Val) c.947C>T (p.Ala316Val) c.488C>T (p.Ala163Val) | gnomAD v4 |
6 | g.30071427G>C | CA363054112 | RNF39 | c.743C>G (p.Ala248Gly) c.947C>G (p.Ala316Gly) c.488C>G (p.Ala163Gly) | |
6 | g.30071427G>T | CA363054113 | RNF39 | c.743C>A (p.Ala248Asp) c.947C>A (p.Ala316Asp) c.488C>A (p.Ala163Asp) | gnomAD v4 |
6 | g.30071429_30071431del | CA2677813975 | RNF39 | c.741_743del (p.Ala248del) c.945_947del (p.Ala316del) c.486_488del (p.Ala163del) | gnomAD v4 |
6 | g.30071428C>A | CA363054114 | RNF39 | c.742G>T (p.Ala248Ser) c.946G>T (p.Ala316Ser) c.487G>T (p.Ala163Ser) | gnomAD v4 |
6 | g.30071428C>G | CA363054115 | RNF39 | c.742G>C (p.Ala248Pro) c.946G>C (p.Ala316Pro) c.487G>C (p.Ala163Pro) | |
6 | g.30071428C>T | CA363054116 | RNF39 | c.742G>A (p.Ala248Thr) c.946G>A (p.Ala316Thr) c.487G>A (p.Ala163Thr) | gnomAD v4 |
6 | g.30071429C>A | CA449767531 | RNF39 | c.741G>T (p.Ala247=) c.945G>T (p.Ala315=) c.486G>T (p.Ala162=) | gnomAD v4 |
6 | g.30071429C>G | CA449767532 | RNF39 | c.741G>C (p.Ala247=) c.945G>C (p.Ala315=) c.486G>C (p.Ala162=) | |
6 | g.30071429C>T | CA449767533 | RNF39 | c.741G>A (p.Ala247=) c.945G>A (p.Ala315=) c.486G>A (p.Ala162=) | gnomAD v4 |
6 | g.30071430G>A | CA363054117 | RNF39 | c.740C>T (p.Ala247Val) c.944C>T (p.Ala315Val) c.485C>T (p.Ala162Val) | gnomAD v4 |
6 | g.30071430G>C | CA363054118 | RNF39 | c.740C>G (p.Ala247Gly) c.944C>G (p.Ala315Gly) c.485C>G (p.Ala162Gly) | gnomAD v4 |
6 | g.30071430G>T | CA363054119 | RNF39 | c.740C>A (p.Ala247Glu) c.944C>A (p.Ala315Glu) c.485C>A (p.Ala162Glu) | gnomAD v4 |
6 | g.30071431C>A | CA363054120 | RNF39 | c.739G>T (p.Ala247Ser) c.943G>T (p.Ala315Ser) c.484G>T (p.Ala162Ser) | gnomAD v4 |
6 | g.30071431C>G | CA363054121 | RNF39 | c.739G>C (p.Ala247Pro) c.943G>C (p.Ala315Pro) c.484G>C (p.Ala162Pro) | |
6 | g.30071431C>T | CA363054122 | RNF39 | c.739G>A (p.Ala247Thr) c.943G>A (p.Ala315Thr) c.484G>A (p.Ala162Thr) | gnomAD v4 |
6 | g.30071432G>A | CA449767536 | RNF39 | c.738C>T (p.Gly246=) c.942C>T (p.Gly314=) c.483C>T (p.Gly161=) | gnomAD v4 |
6 | g.30071432G>C | CA449767538 | RNF39 | c.738C>G (p.Gly246=) c.942C>G (p.Gly314=) c.483C>G (p.Gly161=) | |
6 | g.30071432G>T | CA449767539 | RNF39 | c.738C>A (p.Gly246=) c.942C>A (p.Gly314=) c.483C>A (p.Gly161=) | gnomAD v4 |
6 | g.30071433C>A | CA363054123 | RNF39 | c.737G>T (p.Gly246Val) c.941G>T (p.Gly314Val) c.482G>T (p.Gly161Val) | gnomAD v4 |
6 | g.30071433C= | CA1618576728 | RNF39 | c.737G= (p.Gly246=) c.941G= (p.Gly314=) c.482G= (p.Gly161=) | |
6 | g.30071433C>G | CA363054125 | RNF39 | c.737G>C (p.Gly246Ala) c.941G>C (p.Gly314Ala) c.482G>C (p.Gly161Ala) | |
6 | g.30071433C>T | CA363054124 | RNF39 | c.737G>A (p.Gly246Asp) c.941G>A (p.Gly314Asp) c.482G>A (p.Gly161Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071434C>A | CA363054126 | RNF39 | c.736G>T (p.Gly246Cys) c.940G>T (p.Gly314Cys) c.481G>T (p.Gly161Cys) | gnomAD v4 |
6 | g.30071434C= | CA1618576729 | RNF39 | c.736G= (p.Gly246=) c.940G= (p.Gly314=) c.481G= (p.Gly161=) | |
6 | g.30071434C>G | CA363054127 | RNF39 | c.736G>C (p.Gly246Arg) c.940G>C (p.Gly314Arg) c.481G>C (p.Gly161Arg) | gnomAD v4 |
6 | g.30071434C>T | CA136035985 | RNF39 | c.736G>A (p.Gly246Ser) c.940G>A (p.Gly314Ser) c.481G>A (p.Gly161Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071435C>A | CA449767542 | RNF39 | c.735G>T (p.Val245=) c.939G>T (p.Val313=) c.480G>T (p.Val160=) | gnomAD v4 |
6 | g.30071435C>G | CA449767541 | RNF39 | c.735G>C (p.Val245=) c.939G>C (p.Val313=) c.480G>C (p.Val160=) | |
6 | g.30071435C>T | CA449767540 | RNF39 | c.735G>A (p.Val245=) c.939G>A (p.Val313=) c.480G>A (p.Val160=) | gnomAD v4 |
6 | g.30071436A>C | CA363054128 | RNF39 | c.734T>G (p.Val245Gly) c.938T>G (p.Val313Gly) c.479T>G (p.Val160Gly) | |
6 | g.30071436A>G | CA363054129 | RNF39 | c.734T>C (p.Val245Ala) c.938T>C (p.Val313Ala) c.479T>C (p.Val160Ala) | gnomAD v4 |
6 | g.30071436A>T | CA363054130 | RNF39 | c.734T>A (p.Val245Glu) c.938T>A (p.Val313Glu) c.479T>A (p.Val160Glu) | |
6 | g.30071437C>A | CA363054131 | RNF39 | c.733G>T (p.Val245Leu) c.937G>T (p.Val313Leu) c.478G>T (p.Val160Leu) | gnomAD v4 |
6 | g.30071437C>G | CA363054132 | RNF39 | c.733G>C (p.Val245Leu) c.937G>C (p.Val313Leu) c.478G>C (p.Val160Leu) | |
6 | g.30071437C>T | CA363054133 | RNF39 | c.733G>A (p.Val245Met) c.937G>A (p.Val313Met) c.478G>A (p.Val160Met) | gnomAD v4 |
6 | g.30071437_30071438insCGAGATC | CA2677813976 | RNF39 | c.733_734insATCTCGG (p.Val245AspfsTer?) c.937_938insATCTCGG (p.Val313AspfsTer?) c.478_479insATCTCGG (p.Val160AspfsTer?) | gnomAD v4 |
6 | g.30071438T>A | CA449767546 | RNF39 | c.732A>T (p.Ala244=) c.936A>T (p.Ala312=) c.477A>T (p.Ala159=) | |
6 | g.30071438T>C | CA449767547 | RNF39 | c.732A>G (p.Ala244=) c.936A>G (p.Ala312=) c.477A>G (p.Ala159=) | gnomAD v4 |
6 | g.30071438T>G | CA3694378 | RNF39 | c.732A>C (p.Ala244=) c.936A>C (p.Ala312=) c.477A>C (p.Ala159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071438T= | CA1618576730 | RNF39 | c.732A= (p.Ala244=) c.936A= (p.Ala312=) c.477A= (p.Ala159=) | |
6 | g.30071439G>A | CA363054134 | RNF39 | c.731C>T (p.Ala244Val) c.935C>T (p.Ala312Val) c.476C>T (p.Ala159Val) | gnomAD v4 |
6 | g.30071439G>C | CA363054135 | RNF39 | c.731C>G (p.Ala244Gly) c.935C>G (p.Ala312Gly) c.476C>G (p.Ala159Gly) | |
6 | g.30071439G>T | CA363054136 | RNF39 | c.731C>A (p.Ala244Glu) c.935C>A (p.Ala312Glu) c.476C>A (p.Ala159Glu) | gnomAD v4 |
6 | g.30071440C>A | CA363054137 | RNF39 | c.730G>T (p.Ala244Ser) c.934G>T (p.Ala312Ser) c.475G>T (p.Ala159Ser) | gnomAD v4 |
6 | g.30071440C= | CA1618576731 | RNF39 | c.730G= (p.Ala244=) c.934G= (p.Ala312=) c.475G= (p.Ala159=) | |
6 | g.30071440C>G | CA363054139 | RNF39 | c.730G>C (p.Ala244Pro) c.934G>C (p.Ala312Pro) c.475G>C (p.Ala159Pro) | gnomAD v4 |
6 | g.30071440C>T | CA363054138 | RNF39 | c.730G>A (p.Ala244Thr) c.934G>A (p.Ala312Thr) c.475G>A (p.Ala159Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071441A= | CA1618576732 | RNF39 | c.729T= (p.Tyr243=) c.933T= (p.Tyr311=) c.474T= (p.Tyr158=) | |
6 | g.30071441A>C | CA363054140 | RNF39 | c.729T>G (p.Tyr243Ter) c.933T>G (p.Tyr311Ter) c.474T>G (p.Tyr158Ter) | |
6 | g.30071441A>G | CA449767550 | RNF39 | c.729T>C (p.Tyr243=) c.933T>C (p.Tyr311=) c.474T>C (p.Tyr158=) | dbSNP gnomAD v4 |
6 | g.30071441A>T | CA363054141 | RNF39 | c.729T>A (p.Tyr243Ter) c.933T>A (p.Tyr311Ter) c.474T>A (p.Tyr158Ter) | |
6 | g.30071441_30071442insC | CA2677813977 | RNF39 | c.728_729insG (p.Tyr243Ter) c.932_933insG (p.Tyr311Ter) c.473_474insG (p.Tyr158Ter) | gnomAD v4 |
6 | g.30071442T>A | CA363054142 | RNF39 | c.728A>T (p.Tyr243Phe) c.932A>T (p.Tyr311Phe) c.473A>T (p.Tyr158Phe) | |
6 | g.30071442T>C | CA363054143 | RNF39 | c.728A>G (p.Tyr243Cys) c.932A>G (p.Tyr311Cys) c.473A>G (p.Tyr158Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071442T>G | CA363054144 | RNF39 | c.728A>C (p.Tyr243Ser) c.932A>C (p.Tyr311Ser) c.473A>C (p.Tyr158Ser) | |
6 | g.30071442T= | CA1618576733 | RNF39 | c.728A= (p.Tyr243=) c.932A= (p.Tyr311=) c.473A= (p.Tyr158=) | |
6 | g.30071443A>C | CA363054145 | RNF39 | c.727T>G (p.Tyr243Asp) c.931T>G (p.Tyr311Asp) c.472T>G (p.Tyr158Asp) | |
6 | g.30071443A>G | CA363054146 | RNF39 | c.727T>C (p.Tyr243His) c.931T>C (p.Tyr311His) c.472T>C (p.Tyr158His) | gnomAD v4 |
6 | g.30071443A>T | CA363054147 | RNF39 | c.727T>A (p.Tyr243Asn) c.931T>A (p.Tyr311Asn) c.472T>A (p.Tyr158Asn) | gnomAD v4 |
6 | g.30071444G>A | CA449767551 | RNF39 | c.726C>T (p.His242=) c.930C>T (p.His310=) c.471C>T (p.His157=) | |
6 | g.30071444G>C | CA363054148 | RNF39 | c.726C>G (p.His242Gln) c.930C>G (p.His310Gln) c.471C>G (p.His157Gln) | |
6 | g.30071444G>T | CA363054149 | RNF39 | c.726C>A (p.His242Gln) c.930C>A (p.His310Gln) c.471C>A (p.His157Gln) | gnomAD v4 |
6 | g.30071444_30071447del | CA2677813978 | RNF39 | c.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 |
6 | g.30071445T>A | CA363054151 | RNF39 | c.725A>T (p.His242Leu) c.929A>T (p.His310Leu) c.470A>T (p.His157Leu) | gnomAD v4 |
6 | g.30071445T>C | CA363054152 | RNF39 | c.725A>G (p.His242Arg) c.929A>G (p.His310Arg) c.470A>G (p.His157Arg) | dbSNP gnomAD v4 |
6 | g.30071445T>G | CA363054150 | RNF39 | c.725A>C (p.His242Pro) c.929A>C (p.His310Pro) c.470A>C (p.His157Pro) | |
6 | g.30071445T= | CA1618576734 | RNF39 | c.725A= (p.His242=) c.929A= (p.His310=) c.470A= (p.His157=) | |
6 | g.30071446G>A | CA363054153 | RNF39 | c.724C>T (p.His242Tyr) c.928C>T (p.His310Tyr) c.469C>T (p.His157Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071446G>C | CA363054154 | RNF39 | c.724C>G (p.His242Asp) c.928C>G (p.His310Asp) c.469C>G (p.His157Asp) | |
6 | g.30071446G= | CA1618576735 | RNF39 | c.724C= (p.His242=) c.928C= (p.His310=) c.469C= (p.His157=) | |
6 | g.30071446G>T | CA363054155 | RNF39 | c.724C>A (p.His242Asn) c.928C>A (p.His310Asn) c.469C>A (p.His157Asn) | gnomAD v4 |
6 | g.30071447G>A | CA449767555 | RNF39 | c.723C>T (p.Ser241=) c.927C>T (p.Ser309=) c.468C>T (p.Ser156=) | gnomAD v4 |
6 | g.30071447G>C | CA363054156 | RNF39 | c.723C>G (p.Ser241Arg) c.927C>G (p.Ser309Arg) c.468C>G (p.Ser156Arg) | |
6 | g.30071447G>T | CA363054157 | RNF39 | c.723C>A (p.Ser241Arg) c.927C>A (p.Ser309Arg) c.468C>A (p.Ser156Arg) | gnomAD v4 |
6 | g.30071448C>A | CA363054158 | RNF39 | c.722G>T (p.Ser241Ile) c.926G>T (p.Ser309Ile) c.467G>T (p.Ser156Ile) | gnomAD v4 |
6 | g.30071448C>G | CA363054159 | RNF39 | c.722G>C (p.Ser241Thr) c.926G>C (p.Ser309Thr) c.467G>C (p.Ser156Thr) | gnomAD v4 |
6 | g.30071448C>T | CA363054160 | RNF39 | c.722G>A (p.Ser241Asn) c.926G>A (p.Ser309Asn) c.467G>A (p.Ser156Asn) | gnomAD v4 COSMIC COSMIC |
6 | g.30071449T>A | CA363054161 | RNF39 | c.721A>T (p.Ser241Cys) c.925A>T (p.Ser309Cys) c.466A>T (p.Ser156Cys) | |
6 | g.30071449T>C | CA363054162 | RNF39 | c.721A>G (p.Ser241Gly) c.925A>G (p.Ser309Gly) c.466A>G (p.Ser156Gly) | gnomAD v4 |
6 | g.30071449T>G | CA363054163 | RNF39 | c.721A>C (p.Ser241Arg) c.925A>C (p.Ser309Arg) c.466A>C (p.Ser156Arg) | |
6 | g.30071450C>A | CA363054164 | RNF39 | c.720G>T (p.Glu240Asp) c.924G>T (p.Glu308Asp) c.465G>T (p.Glu155Asp) | gnomAD v4 |
6 | g.30071450C= | CA1618576736 | RNF39 | c.720G= (p.Glu240=) c.924G= (p.Glu308=) c.465G= (p.Glu155=) | |
6 | g.30071450C>G | CA363054165 | RNF39 | c.720G>C (p.Glu240Asp) c.924G>C (p.Glu308Asp) c.465G>C (p.Glu155Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071450C>T | CA449767559 | RNF39 | c.720G>A (p.Glu240=) c.924G>A (p.Glu308=) c.465G>A (p.Glu155=) | gnomAD v4 |
6 | g.30071453_30071455del | CA2677813979 | RNF39 | c.718_720del (p.Glu240del) c.922_924del (p.Glu308del) c.463_465del (p.Glu155del) | gnomAD v4 |
6 | g.30071451T>A | CA363054168 | RNF39 | c.719A>T (p.Glu240Val) c.923A>T (p.Glu308Val) c.464A>T (p.Glu155Val) | gnomAD v4 |
6 | g.30071451T>C | CA363054167 | RNF39 | c.719A>G (p.Glu240Gly) c.923A>G (p.Glu308Gly) c.464A>G (p.Glu155Gly) | gnomAD v4 |
6 | g.30071451T>G | CA363054166 | RNF39 | c.719A>C (p.Glu240Ala) c.923A>C (p.Glu308Ala) c.464A>C (p.Glu155Ala) | |
6 | g.30071452C>A | CA363054169 | RNF39 | c.718G>T (p.Glu240Ter) c.922G>T (p.Glu308Ter) c.463G>T (p.Glu155Ter) | gnomAD v4 |
6 | g.30071452C= | CA1618576737 | RNF39 | c.718G= (p.Glu240=) c.922G= (p.Glu308=) c.463G= (p.Glu155=) | |
6 | g.30071452C>G | CA363054170 | RNF39 | c.718G>C (p.Glu240Gln) c.922G>C (p.Glu308Gln) c.463G>C (p.Glu155Gln) | |
6 | g.30071452C>T | CA363054171 | RNF39 | c.718G>A (p.Glu240Lys) c.922G>A (p.Glu308Lys) c.463G>A (p.Glu155Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071453C>A | CA363054172 | RNF39 | c.717G>T (p.Glu239Asp) c.921G>T (p.Glu307Asp) c.462G>T (p.Glu154Asp) | gnomAD v4 |
6 | g.30071453C= | CA1618576738 | RNF39 | c.717G= (p.Glu239=) c.921G= (p.Glu307=) c.462G= (p.Glu154=) | |
6 | g.30071453C>G | CA363054173 | RNF39 | c.717G>C (p.Glu239Asp) c.921G>C (p.Glu307Asp) c.462G>C (p.Glu154Asp) | gnomAD v4 |
6 | g.30071453C>T | CA3694379 | RNF39 | c.717G>A (p.Glu239=) c.921G>A (p.Glu307=) c.462G>A (p.Glu154=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071453_30071456delinsCTCG | CA1618576739 | RNF39 | c.714_717delinsCGAG (p.Asp238=) c.918_921delinsCGAG (p.Asp306=) c.459_462delinsCGAG (p.Asp153=) | |
6 | g.30071454T>A | CA363054174 | RNF39 | c.716A>T (p.Glu239Val) c.920A>T (p.Glu307Val) c.461A>T (p.Glu154Val) | gnomAD v4 |
6 | g.30071454T>C | CA363054175 | RNF39 | c.716A>G (p.Glu239Gly) c.920A>G (p.Glu307Gly) c.461A>G (p.Glu154Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071454T>G | CA363054176 | RNF39 | c.716A>C (p.Glu239Ala) c.920A>C (p.Glu307Ala) c.461A>C (p.Glu154Ala) | gnomAD v4 |
6 | g.30071454T= | CA1618576740 | RNF39 | c.716A= (p.Glu239=) c.920A= (p.Glu307=) c.461A= (p.Glu154=) | |
6 | g.30071459_30071461del | CA566293185 | RNF39 | c.714_716del (p.Asp238del) c.918_920del (p.Asp306del) c.459_461del (p.Asp153del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071455C>A | CA363054177 | RNF39 | c.715G>T (p.Glu239Ter) c.919G>T (p.Glu307Ter) c.460G>T (p.Glu154Ter) | gnomAD v4 |
6 | g.30071455C= | CA1618576741 | RNF39 | c.715G= (p.Glu239=) c.919G= (p.Glu307=) c.460G= (p.Glu154=) | |
6 | g.30071455C>G | CA136036000 | RNF39 | c.715G>C (p.Glu239Gln) c.919G>C (p.Glu307Gln) c.460G>C (p.Glu154Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071455C>T | CA363054178 | RNF39 | c.715G>A (p.Glu239Lys) c.919G>A (p.Glu307Lys) c.460G>A (p.Glu154Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071456G>A | CA449767563 | RNF39 | c.714C>T (p.Asp238=) c.918C>T (p.Asp306=) c.459C>T (p.Asp153=) | dbSNP gnomAD v4 |
6 | g.30071456G>C | CA363054179 | RNF39 | c.714C>G (p.Asp238Glu) c.918C>G (p.Asp306Glu) c.459C>G (p.Asp153Glu) | gnomAD v4 |
6 | g.30071456G= | CA1618576742 | RNF39 | c.714C= (p.Asp238=) c.918C= (p.Asp306=) c.459C= (p.Asp153=) | |
6 | g.30071456G>T | CA363054180 | RNF39 | c.714C>A (p.Asp238Glu) c.918C>A (p.Asp306Glu) c.459C>A (p.Asp153Glu) | dbSNP gnomAD v4 |
6 | g.30071457T>A | CA363054182 | RNF39 | c.713A>T (p.Asp238Val) c.917A>T (p.Asp306Val) c.458A>T (p.Asp153Val) | |
6 | g.30071457T>C | CA363054183 | RNF39 | c.713A>G (p.Asp238Gly) c.917A>G (p.Asp306Gly) c.458A>G (p.Asp153Gly) | |
6 | g.30071457T>G | CA363054181 | RNF39 | c.713A>C (p.Asp238Ala) c.917A>C (p.Asp306Ala) c.458A>C (p.Asp153Ala) | |
6 | g.30071458C>A | CA363054184 | RNF39 | c.712G>T (p.Asp238Tyr) c.916G>T (p.Asp306Tyr) c.457G>T (p.Asp153Tyr) | gnomAD v4 |
6 | g.30071458C= | CA1618576743 | RNF39 | c.712G= (p.Asp238=) c.916G= (p.Asp306=) c.457G= (p.Asp153=) | |
6 | g.30071458C>G | CA363054185 | RNF39 | c.712G>C (p.Asp238His) c.916G>C (p.Asp306His) c.457G>C (p.Asp153His) | gnomAD v4 |
6 | g.30071458C>T | CA363054186 | RNF39 | c.712G>A (p.Asp238Asn) c.916G>A (p.Asp306Asn) c.457G>A (p.Asp153Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071466_30071504del | CA2677813980 | RNF39 | c.674_712del (p.Ala225_Asp237del) c.878_916del (p.Ala293_Asp305del) c.419_457del (p.Ala140_Asp152del) | gnomAD v4 |
6 | g.30071459G>A | CA449767567 | RNF39 | c.711C>T (p.Asp237=) c.915C>T (p.Asp305=) c.456C>T (p.Asp152=) | gnomAD v4 |
6 | g.30071459G>C | CA363054187 | RNF39 | c.711C>G (p.Asp237Glu) c.915C>G (p.Asp305Glu) c.456C>G (p.Asp152Glu) | COSMIC COSMIC |
6 | g.30071459G>T | CA363054188 | RNF39 | c.711C>A (p.Asp237Glu) c.915C>A (p.Asp305Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
6 | g.30071460T>A | CA363054191 | RNF39 | c.710A>T (p.Asp237Val) c.914A>T (p.Asp305Val) c.455A>T (p.Asp152Val) | |
6 | g.30071460T>C | CA363054190 | RNF39 | c.710A>G (p.Asp237Gly) c.914A>G (p.Asp305Gly) c.455A>G (p.Asp152Gly) | gnomAD v4 |
6 | g.30071460T>G | CA363054189 | RNF39 | c.710A>C (p.Asp237Ala) c.914A>C (p.Asp305Ala) c.455A>C (p.Asp152Ala) | |
6 | g.30071461C>A | CA363054192 | RNF39 | c.709G>T (p.Asp237Tyr) c.913G>T (p.Asp305Tyr) c.454G>T (p.Asp152Tyr) | gnomAD v4 |
6 | g.30071461C= | CA1618576744 | RNF39 | c.709G= (p.Asp237=) c.913G= (p.Asp305=) c.454G= (p.Asp152=) | |
6 | g.30071461C>G | CA363054193 | RNF39 | c.709G>C (p.Asp237His) c.913G>C (p.Asp305His) c.454G>C (p.Asp152His) | |
6 | g.30071461C>T | CA363054194 | RNF39 | c.709G>A (p.Asp237Asn) c.913G>A (p.Asp305Asn) c.454G>A (p.Asp152Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071462del | CA2677813981 | RNF39 | c.709del (p.Asp237ThrfsTer22) c.709del (p.Asp237ThrfsTer?) c.913del (p.Asp305ThrfsTer22) c.913del (p.Asp305ThrfsTer?) c.454del (p.Asp152ThrfsTer22) | gnomAD v4 |
6 | g.30071462C>A | CA449767573 | RNF39 | c.708G>T (p.Ala236=) c.912G>T (p.Ala304=) c.453G>T (p.Ala151=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071462C= | CA1618576745 | RNF39 | c.708G= (p.Ala236=) c.912G= (p.Ala304=) c.453G= (p.Ala151=) | |
6 | g.30071462C>G | CA449767572 | RNF39 | c.708G>C (p.Ala236=) c.912G>C (p.Ala304=) c.453G>C (p.Ala151=) | gnomAD v4 |
6 | g.30071462C>T | CA449767570 | RNF39 | c.708G>A (p.Ala236=) c.912G>A (p.Ala304=) c.453G>A (p.Ala151=) | gnomAD v4 |
6 | g.30071463G>A | CA363054195 | RNF39 | c.707C>T (p.Ala236Val) c.911C>T (p.Ala304Val) c.452C>T (p.Ala151Val) | gnomAD v4 |
6 | g.30071463G>C | CA363054196 | RNF39 | c.707C>G (p.Ala236Gly) c.911C>G (p.Ala304Gly) c.452C>G (p.Ala151Gly) | gnomAD v4 |
6 | g.30071463G= | CA1618576746 | RNF39 | c.707C= (p.Ala236=) c.911C= (p.Ala304=) c.452C= (p.Ala151=) | |
6 | g.30071463G>T | CA3694380 | RNF39 | c.707C>A (p.Ala236Glu) c.911C>A (p.Ala304Glu) c.452C>A (p.Ala151Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071464C>A | CA363054197 | RNF39 | c.706G>T (p.Ala236Ser) c.910G>T (p.Ala304Ser) c.451G>T (p.Ala151Ser) | gnomAD v4 |
6 | g.30071464C>G | CA363054199 | RNF39 | c.706G>C (p.Ala236Pro) c.910G>C (p.Ala304Pro) c.451G>C (p.Ala151Pro) | |
6 | g.30071464C>T | CA363054198 | RNF39 | c.706G>A (p.Ala236Thr) c.910G>A (p.Ala304Thr) c.451G>A (p.Ala151Thr) | gnomAD v4 |
6 | g.30071465A>C | CA363054200 | RNF39 | c.705T>G (p.Asp235Glu) c.909T>G (p.Asp303Glu) c.450T>G (p.Asp150Glu) | |
6 | g.30071465A>G | CA449767574 | RNF39 | c.705T>C (p.Asp235=) c.909T>C (p.Asp303=) c.450T>C (p.Asp150=) | gnomAD v4 |
6 | g.30071465A>T | CA363054201 | RNF39 | c.705T>A (p.Asp235Glu) c.909T>A (p.Asp303Glu) c.450T>A (p.Asp150Glu) | |
6 | g.30071466T>A | CA363054202 | RNF39 | c.704A>T (p.Asp235Val) c.908A>T (p.Asp303Val) c.449A>T (p.Asp150Val) | gnomAD v4 |
6 | g.30071466T>C | CA363054203 | RNF39 | c.704A>G (p.Asp235Gly) c.908A>G (p.Asp303Gly) c.449A>G (p.Asp150Gly) | gnomAD v4 |
6 | g.30071466T>G | CA363054204 | RNF39 | c.704A>C (p.Asp235Ala) c.908A>C (p.Asp303Ala) c.449A>C (p.Asp150Ala) | |
6 | g.30071467C>A | CA363054205 | RNF39 | c.703G>T (p.Asp235Tyr) c.907G>T (p.Asp303Tyr) c.448G>T (p.Asp150Tyr) | gnomAD v4 |
6 | g.30071467C>G | CA363054206 | RNF39 | c.703G>C (p.Asp235His) c.907G>C (p.Asp303His) c.448G>C (p.Asp150His) | gnomAD v4 |
6 | g.30071467C>T | CA363054207 | RNF39 | c.703G>A (p.Asp235Asn) c.907G>A (p.Asp303Asn) c.448G>A (p.Asp150Asn) | |
6 | g.30071468C>A | CA363054208 | RNF39 | c.702G>T (p.Glu234Asp) c.906G>T (p.Glu302Asp) c.447G>T (p.Glu149Asp) | gnomAD v4 |
6 | g.30071468C>G | CA363054209 | RNF39 | c.702G>C (p.Glu234Asp) c.906G>C (p.Glu302Asp) c.447G>C (p.Glu149Asp) | |
6 | g.30071468C>T | CA449767578 | RNF39 | c.702G>A (p.Glu234=) c.906G>A (p.Glu302=) c.447G>A (p.Glu149=) | gnomAD v4 |
6 | g.30071469T>A | CA363054212 | RNF39 | c.701A>T (p.Glu234Val) c.905A>T (p.Glu302Val) c.446A>T (p.Glu149Val) | |
6 | g.30071469T>C | CA363054211 | RNF39 | c.701A>G (p.Glu234Gly) c.905A>G (p.Glu302Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
6 | g.30071469T>G | CA363054210 | RNF39 | c.701A>C (p.Glu234Ala) c.905A>C (p.Glu302Ala) c.446A>C (p.Glu149Ala) | |
6 | g.30071470C>A | CA363054213 | RNF39 | c.700G>T (p.Glu234Ter) c.904G>T (p.Glu302Ter) c.445G>T (p.Glu149Ter) | gnomAD v4 |
6 | g.30071470C>G | CA363054215 | RNF39 | c.700G>C (p.Glu234Gln) c.904G>C (p.Glu302Gln) c.445G>C (p.Glu149Gln) | gnomAD v4 |
6 | g.30071470C>T | CA363054214 | RNF39 | c.700G>A (p.Glu234Lys) c.904G>A (p.Glu302Lys) c.445G>A (p.Glu149Lys) | gnomAD v4 |
6 | g.30071473del | CA2677813982 | RNF39 | c.700del (p.Glu234ArgfsTer25) c.700del (p.Glu234ArgfsTer?) c.904del (p.Glu302ArgfsTer25) c.904del (p.Glu302ArgfsTer?) c.445del (p.Glu149ArgfsTer25) | gnomAD v4 |
6 | g.30071471C>A | CA449767582 | RNF39 | c.699G>T (p.Gly233=) c.903G>T (p.Gly301=) c.444G>T (p.Gly148=) | gnomAD v4 |
6 | g.30071471C>G | CA449767583 | RNF39 | c.699G>C (p.Gly233=) c.903G>C (p.Gly301=) c.444G>C (p.Gly148=) | |
6 | g.30071471C>T | CA449767584 | RNF39 | c.699G>A (p.Gly233=) c.903G>A (p.Gly301=) c.444G>A (p.Gly148=) | gnomAD v4 |
6 | g.30071472C>A | CA363054216 | RNF39 | c.698G>T (p.Gly233Val) c.902G>T (p.Gly301Val) c.443G>T (p.Gly148Val) | gnomAD v4 |
6 | g.30071472C= | CA1618576747 | RNF39 | c.698G= (p.Gly233=) c.902G= (p.Gly301=) c.443G= (p.Gly148=) | |
6 | g.30071472C>G | CA363054218 | RNF39 | c.698G>C (p.Gly233Ala) c.902G>C (p.Gly301Ala) c.443G>C (p.Gly148Ala) | dbSNP gnomAD v4 |
6 | g.30071472C>T | CA363054217 | RNF39 | c.698G>A (p.Gly233Glu) c.902G>A (p.Gly301Glu) c.443G>A (p.Gly148Glu) | gnomAD v4 |