All transcript variants in gene RPP38

Information The variants shown are described using the NM_006414.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10-37C>T r.(=) p.(=) g.15145267C>T Copied from the Exome Variant Server RPP38_000001 1/13004 0/8600 1/4404
?/? c.23C>T r.(?) p.(Pro8Leu) g.15145336C>T Copied from the Exome Variant Server RPP38_000002 100/13006 0/8600 100/4406
?/? c.24G>A r.(=) p.(=) g.15145337G>A Copied from the Exome Variant Server RPP38_000003 3/13006 3/8600 0/4406
?/? c.28C>T r.(?) p.(Arg10Trp) g.15145341C>T Copied from the Exome Variant Server RPP38_000004 1/13006 1/8600 0/4406
?/? c.29G>A r.(?) p.(Arg10Gln) g.15145342G>A Copied from the Exome Variant Server RPP38_000005 2/13006 2/8600 0/4406
?/? c.40C>T r.(?) p.(Arg14Cys) g.15145353C>T Copied from the Exome Variant Server RPP38_000006 1/13006 1/8600 0/4406
?/? c.46A>G r.(?) p.(Thr16Ala) g.15145359A>G Copied from the Exome Variant Server RPP38_000007 3/13006 3/8600 0/4406
?/? c.48G>A r.(=) p.(=) g.15145361G>A Copied from the Exome Variant Server RPP38_000008 1892/13006 1320/8600 572/4406
?/? c.57G>A r.(=) p.(=) g.15145370G>A Copied from the Exome Variant Server RPP38_000009 1/13006 0/8600 1/4406
?/? c.71C>T r.(?) p.(Ser24Leu) g.15145384C>T Copied from the Exome Variant Server RPP38_000010 1/13006 1/8600 0/4406
?/? c.94C>T r.(?) p.(Arg32Cys) g.15145407C>T Copied from the Exome Variant Server RPP38_000011 1/13006 0/8600 1/4406
?/? c.96_105del r.(?) p.(Ser34Argfs*36) g.15145409_15145418del Copied from the Exome Variant Server RPP38_000012 2/12518 2/8254 0/4264
?/? c.111G>C r.(?) p.(Glu37Asp) g.15145424G>C Copied from the Exome Variant Server RPP38_000013 1/13006 0/8600 1/4406
?/? c.115G>A r.(?) p.(Glu39Lys) g.15145428G>A Copied from the Exome Variant Server RPP38_000014 3/13006 3/8600 0/4406
?/? c.140C>T r.(?) p.(Thr47Met) g.15145453C>T Copied from the Exome Variant Server RPP38_000015 17/13006 16/8600 1/4406
?/? c.151A>G r.(?) p.(Arg51Gly) g.15145464A>G Copied from the Exome Variant Server RPP38_000016 1/13006 1/8600 0/4406
?/? c.157A>G r.(?) p.(Lys53Glu) g.15145470A>G Copied from the Exome Variant Server RPP38_000017 1/13006 0/8600 1/4406
?/? c.163A>G r.(?) p.(Ile55Val) g.15145476A>G Copied from the Exome Variant Server RPP38_000018 2/13006 0/8600 2/4406
?/? c.180T>C r.(=) p.(=) g.15145493T>C Copied from the Exome Variant Server RPP38_000019 1/13006 1/8600 0/4406
?/? c.230G>A r.(?) p.(Arg77Lys) g.15145543G>A Copied from the Exome Variant Server RPP38_000020 1/13006 1/8600 0/4406
?/? c.254A>C r.(?) p.(Asp85Ala) g.15145567A>C Copied from the Exome Variant Server RPP38_000021 1/13006 1/8600 0/4406
?/? c.256A>G r.(?) p.(Ile86Val) g.15145569A>G Copied from the Exome Variant Server RPP38_000022 208/13006 189/8600 19/4406
?/? c.274G>T r.(?) p.(Glu92*) g.15145587G>T Copied from the Exome Variant Server RPP38_000023 1/13006 1/8600 0/4406
?/? c.284C>T r.(?) p.(Thr95Ile) g.15145597C>T Copied from the Exome Variant Server RPP38_000024 4/13006 0/8600 4/4406
?/? c.357A>G r.(=) p.(=) g.15145670A>G Copied from the Exome Variant Server RPP38_000025 1/13006 0/8600 1/4406
?/? c.367G>A r.(?) p.(Ala123Thr) g.15145680G>A Copied from the Exome Variant Server RPP38_000026 1/13006 0/8600 1/4406
?/? c.387G>A r.(=) p.(=) g.15145700G>A Copied from the Exome Variant Server RPP38_000027 1/13006 0/8600 1/4406
?/? c.464G>C r.(?) p.(Ser155Thr) g.15145777G>C Copied from the Exome Variant Server RPP38_000028 1/13006 1/8600 0/4406
?/? c.474C>A r.(=) p.(=) g.15145787C>A Copied from the Exome Variant Server RPP38_000029 1/13006 0/8600 1/4406
?/? c.488G>A r.(?) p.(Arg163Gln) g.15145801G>A Copied from the Exome Variant Server RPP38_000030 1/13006 0/8600 1/4406
?/? c.511G>A r.(?) p.(Val171Ile) g.15145824G>A Copied from the Exome Variant Server RPP38_000031 4/13006 2/8600 2/4406
?/? c.532C>G r.(?) p.(Leu178Val) g.15145845C>G Copied from the Exome Variant Server RPP38_000032 1/13006 0/8600 1/4406
?/? c.536C>T r.(?) p.(Ala179Val) g.15145849C>T Copied from the Exome Variant Server RPP38_000033 1/13006 1/8600 0/4406
?/? c.542C>G r.(?) p.(Ala181Gly) g.15145855C>G Copied from the Exome Variant Server RPP38_000034 5358/13006 2031/8600 3327/4406
?/? c.543G>A r.(=) p.(=) g.15145856G>A Copied from the Exome Variant Server RPP38_000035 15/13006 0/8600 15/4406
?/? c.554A>C r.(?) p.(Asn185Thr) g.15145867A>C Copied from the Exome Variant Server RPP38_000036 1/13006 1/8600 0/4406
?/? c.573C>T r.(=) p.(=) g.15145886C>T Copied from the Exome Variant Server RPP38_000037 2/13006 2/8600 0/4406
?/? c.589A>G r.(?) p.(Ile197Val) g.15145902A>G Copied from the Exome Variant Server RPP38_000038 1/13006 1/8600 0/4406
?/? c.604A>C r.(?) p.(Ser202Arg) g.15145917A>C Copied from the Exome Variant Server RPP38_000039 548/13006 5/8600 543/4406
?/? c.635T>C r.(?) p.(Ile212Thr) g.15145948T>C Copied from the Exome Variant Server RPP38_000040 268/13006 247/8600 21/4406
?/? c.705A>C r.(=) p.(=) g.15146018A>C Copied from the Exome Variant Server RPP38_000041 1/13006 0/8600 1/4406
?/? c.707T>C r.(?) p.(Phe236Ser) g.15146020T>C Copied from the Exome Variant Server RPP38_000042 7/13006 5/8600 2/4406
?/? c.744C>T r.(=) p.(=) g.15146057C>T Copied from the Exome Variant Server RPP38_000043 1/13000 1/8598 0/4402
?/? c.748C>G r.(?) p.(Arg250Gly) g.15146061C>G Copied from the Exome Variant Server RPP38_000044 743/13000 535/8598 208/4402
?/? c.766T>C r.(=) p.(=) g.15146079T>C Copied from the Exome Variant Server RPP38_000045 226/12990 1/8598 225/4392
?/? c.840T>C r.(=) p.(=) g.15146153T>C Copied from the Exome Variant Server RPP38_000046 1/12702 1/8460 0/4242
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