All transcript variants in gene RFPL3

Information The variants shown are described using the NM_006604.2 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5-131C>T r.(=) p.(=) g.32754010C>T Copied from the Exome Variant Server RFPL3_000001 1/12888 0/8554 1/4334
?/? c.-5-127G>A r.(=) p.(=) g.32754014G>A Copied from the Exome Variant Server RFPL3_000002 81/12906 74/8560 7/4346
?/? c.-5-122G>A r.(=) p.(=) g.32754019G>A Copied from the Exome Variant Server RFPL3_000003 18/12922 3/8570 15/4352
?/? c.-5-116del r.(=) p.(=) g.32754025del Copied from the Exome Variant Server RFPL3_000004 4/12420 2/8218 2/4202
?/? c.-5-116G>C r.(=) p.(=) g.32754025G>C Copied from the Exome Variant Server RFPL3_000005 8/12928 0/8574 8/4354
?/? c.-5-105G>A r.(=) p.(=) g.32754036G>A Copied from the Exome Variant Server RFPL3_000006 596/12958 434/8584 162/4374
?/? c.-5-97A>G r.(=) p.(=) g.32754044A>G Copied from the Exome Variant Server RFPL3_000007 1/12980 1/8594 0/4386
?/? c.-5-83C>A r.(=) p.(=) g.32754058C>A Copied from the Exome Variant Server RFPL3_000008 1/13000 1/8600 0/4400
?/? c.-5-80G>C r.(=) p.(=) g.32754061G>C Copied from the Exome Variant Server RFPL3_000009 1/12998 0/8596 1/4402
?/? c.-5-38A>C r.(=) p.(=) g.32754103A>C Copied from the Exome Variant Server RFPL3_000010 556/13004 418/8598 138/4406
?/? c.-5-11_-5-10insC r.(=) p.(=) g.32754130_32754131insC Copied from the Exome Variant Server RFPL3_000011 10/12518 0/8254 10/4264
?/? c.10C>G r.(?) p.(Leu4Val) g.32754155C>G Copied from the Exome Variant Server RFPL3_000012 8/13006 8/8600 0/4406
?/? c.36C>T r.(=) p.(=) g.32754181C>T Copied from the Exome Variant Server RFPL3_000013 9/13000 0/8594 9/4406
?/? c.44C>G r.(?) p.(Ser15*) g.32754189C>G Copied from the Exome Variant Server RFPL3_000014 1/13006 0/8600 1/4406
?/? c.85A>G r.(?) p.(Thr29Ala) g.32754230A>G Copied from the Exome Variant Server RFPL3_000015 634/13006 459/8600 175/4406
?/? c.87C>T r.(=) p.(=) g.32754232C>T Copied from the Exome Variant Server RFPL3_000016 618/13006 453/8600 165/4406
?/? c.88G>A r.(?) p.(Val30Ile) g.32754233G>A Copied from the Exome Variant Server RFPL3_000017 1/13006 1/8600 0/4406
?/? c.107A>G r.(?) p.(Asn36Ser) g.32754252A>G Copied from the Exome Variant Server RFPL3_000018 1/13006 1/8600 0/4406
?/? c.110C>G r.(?) p.(Ser37Trp) g.32754255C>G Copied from the Exome Variant Server RFPL3_000019 1/13006 1/8600 0/4406
?/? c.129T>G r.(?) p.(His43Gln) g.32754274T>G Copied from the Exome Variant Server RFPL3_000020 8/13006 1/8600 7/4406
?/? c.141G>A r.(=) p.(=) g.32754286G>A Copied from the Exome Variant Server RFPL3_000021 284/13006 264/8600 20/4406
?/? c.161T>C r.(?) p.(Met54Thr) g.32754306T>C Copied from the Exome Variant Server RFPL3_000022 677/13006 474/8600 203/4406
?/? c.193C>T r.(?) p.(Arg65Trp) g.32754338C>T Copied from the Exome Variant Server RFPL3_000023 1/13006 0/8600 1/4406
?/? c.212T>C r.(?) p.(Val71Ala) g.32754357T>C Copied from the Exome Variant Server RFPL3_000024 1/13006 0/8600 1/4406
?/? c.234G>C r.(?) p.(Glu78Asp) g.32754379G>C Copied from the Exome Variant Server RFPL3_000025 13/13006 11/8600 2/4406
?/? c.237C>G r.(=) p.(=) g.32754382C>G Copied from the Exome Variant Server RFPL3_000026 291/13006 269/8600 22/4406
?/? c.241C>A r.(?) p.(Leu81Met) g.32754386C>A Copied from the Exome Variant Server RFPL3_000027 1302/13006 499/8600 803/4406
?/? c.255A>G r.(=) p.(=) g.32754400A>G Copied from the Exome Variant Server RFPL3_000028 2/13006 2/8600 0/4406
?/? c.264C>T r.(=) p.(=) g.32754409C>T Copied from the Exome Variant Server RFPL3_000029 12/13006 12/8600 0/4406
?/? c.274C>T r.(?) p.(Arg92Trp) g.32754419C>T Copied from the Exome Variant Server RFPL3_000030 2/13006 0/8600 2/4406
?/? c.286+7A>C r.(=) p.(=) g.32754438A>C Copied from the Exome Variant Server RFPL3_000031 10/13006 8/8600 2/4406
?/? c.286+22C>T r.(=) p.(=) g.32754453C>T Copied from the Exome Variant Server RFPL3_000032 7/13006 6/8600 1/4406
?/? c.286+24C>A r.(=) p.(=) g.32754455C>A Copied from the Exome Variant Server RFPL3_000033 1/13006 0/8600 1/4406
?/? c.286+39G>A r.(=) p.(=) g.32754470G>A Copied from the Exome Variant Server RFPL3_000034 3/13006 0/8600 3/4406
?/? c.287-50T>A r.(=) p.(=) g.32756189T>A Copied from the Exome Variant Server RFPL3_000035 1/13006 1/8600 0/4406
?/? c.287-41C>A r.(=) p.(=) g.32756198C>A Copied from the Exome Variant Server RFPL3_000036 1/13006 1/8600 0/4406
?/? c.287-28G>A r.(=) p.(=) g.32756211G>A Copied from the Exome Variant Server RFPL3_000037 1/13006 0/8600 1/4406
?/? c.287-5C>G r.spl? p.? g.32756234C>G Copied from the Exome Variant Server RFPL3_000038 2/13006 2/8600 0/4406
?/? c.289G>A r.(?) p.(Asp97Asn) g.32756241G>A Copied from the Exome Variant Server RFPL3_000039 303/13006 9/8600 294/4406
?/? c.307G>A r.(?) p.(Asp103Asn) g.32756259G>A Copied from the Exome Variant Server RFPL3_000040 3/13006 3/8600 0/4406
?/? c.351C>T r.(=) p.(=) g.32756303C>T Copied from the Exome Variant Server RFPL3_000041 9/13006 0/8600 9/4406
?/? c.352G>A r.(?) p.(Val118Ile) g.32756304G>A Copied from the Exome Variant Server RFPL3_000042 5/13006 3/8600 2/4406
?/? c.355C>T r.(?) p.(Arg119*) g.32756307C>T Copied from the Exome Variant Server RFPL3_000043 1/13006 0/8600 1/4406
?/? c.365T>G r.(?) p.(Leu122Arg) g.32756317T>G Copied from the Exome Variant Server RFPL3_000044 1/13006 1/8600 0/4406
?/? c.385G>C r.(?) p.(Asp129His) g.32756337G>C Copied from the Exome Variant Server RFPL3_000045 1/13006 0/8600 1/4406
?/? c.406G>A r.(?) p.(Val136Met) g.32756358G>A Copied from the Exome Variant Server RFPL3_000046 4/13006 0/8600 4/4406
?/? c.434G>A r.(?) p.(Arg145His) g.32756386G>A Copied from the Exome Variant Server RFPL3_000047 2/13002 0/8596 2/4406
?/? c.445G>A r.(?) p.(Gly149Ser) g.32756397G>A Copied from the Exome Variant Server RFPL3_000048 1/13002 1/8596 0/4406
?/? c.450C>A r.(=) p.(=) g.32756402C>A Copied from the Exome Variant Server RFPL3_000049 1/13002 0/8596 1/4406
?/? c.455A>G r.(?) p.(Tyr152Cys) g.32756407A>G Copied from the Exome Variant Server RFPL3_000050 978/13002 479/8596 499/4406
?/? c.460G>A r.(?) p.(Glu154Lys) g.32756412G>A Copied from the Exome Variant Server RFPL3_000051 1/13002 1/8596 0/4406
?/? c.468C>T r.(=) p.(=) g.32756420C>T Copied from the Exome Variant Server RFPL3_000052 7/13000 7/8594 0/4406
?/? c.508G>C r.(?) p.(Glu170Gln) g.32756460G>C Copied from the Exome Variant Server RFPL3_000053 29/13006 26/8600 3/4406
?/? c.516T>C r.(=) p.(=) g.32756468T>C Copied from the Exome Variant Server RFPL3_000054 1/13006 0/8600 1/4406
?/? c.551T>G r.(?) p.(Leu184Arg) g.32756503T>G Copied from the Exome Variant Server RFPL3_000055 1/13006 1/8600 0/4406
?/? c.564T>G r.(=) p.(=) g.32756516T>G Copied from the Exome Variant Server RFPL3_000056 2/13006 2/8600 0/4406
?/? c.586C>A r.(?) p.(Arg196Ser) g.32756538C>A Copied from the Exome Variant Server RFPL3_000057 1/13006 1/8600 0/4406
?/? c.602C>G r.(?) p.(Thr201Arg) g.32756554C>G Copied from the Exome Variant Server RFPL3_000058 2/13006 2/8600 0/4406
?/? c.608C>T r.(?) p.(Pro203Leu) g.32756560C>T Copied from the Exome Variant Server RFPL3_000059 4/13006 2/8600 2/4406
?/? c.609G>A r.(=) p.(=) g.32756561G>A Copied from the Exome Variant Server RFPL3_000060 1/13006 1/8600 0/4406
?/? c.631C>T r.(?) p.(Arg211Cys) g.32756583C>T Copied from the Exome Variant Server RFPL3_000061 3/13006 3/8600 0/4406
?/? c.653T>A r.(?) p.(Ile218Asn) g.32756605T>A Copied from the Exome Variant Server RFPL3_000062 1/13006 1/8600 0/4406
?/? c.660G>A r.(=) p.(=) g.32756612G>A Copied from the Exome Variant Server RFPL3_000063 1/13006 0/8600 1/4406
?/? c.671T>G r.(?) p.(Met224Arg) g.32756623T>G Copied from the Exome Variant Server RFPL3_000064 1/13002 0/8596 1/4406
?/? c.697G>A r.(?) p.(Glu233Lys) g.32756649G>A Copied from the Exome Variant Server RFPL3_000065 1/13006 1/8600 0/4406
?/? c.752G>A r.(?) p.(Arg251His) g.32756704G>A Copied from the Exome Variant Server RFPL3_000066 2/13006 2/8600 0/4406
?/? c.827G>A r.(?) p.(Gly276Asp) g.32756779G>A Copied from the Exome Variant Server RFPL3_000067 3/12994 3/8590 0/4404
?/? c.834T>C r.(=) p.(=) g.32756786T>C Copied from the Exome Variant Server RFPL3_000068 1/12978 1/8578 0/4400
?/? c.847C>T r.(?) p.(Arg283Cys) g.32756799C>T Copied from the Exome Variant Server RFPL3_000069 1/12938 1/8558 0/4380
?/? c.855G>C r.(=) p.(=) g.32756807G>C Copied from the Exome Variant Server RFPL3_000070 237/12878 0/8528 237/4350
?/? c.861C>G r.(=) p.(=) g.32756813C>G Copied from the Exome Variant Server RFPL3_000071 1/12868 1/8522 0/4346
?/? c.*12del r.(=) p.(=) g.32756831del Copied from the Exome Variant Server RFPL3_000073 818/11752 578/7874 240/3878
?/? c.*12dup r.(=) p.(=) g.32756831dup Copied from the Exome Variant Server RFPL3_000072 178/11752 122/7874 56/3878
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