Full data view for gene RNF13

Information The variants shown are described using the NM_007282.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-16-33C>T r.(=) p.(=) g.149563765C>T Copied from the Exome Variant Server RNF13_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-8_-6del r.(=) p.(=) g.149563806_149563808del Copied from the Exome Variant Server RNF13_000002 44/12520 28/8254 16/4266 - - - - - - -
?/? c.-3G>A r.(=) p.(=) g.149563811G>A Copied from the Exome Variant Server RNF13_000003 11/13006 1/8600 10/4406 - - - - - - -
?/? c.43G>A r.(?) p.(Val15Ile) g.149563856G>A Copied from the Exome Variant Server RNF13_000004 2/13006 0/8600 2/4406 - - - - - - -
?/? c.89T>A r.(?) p.(Leu30Gln) g.149563902T>A Copied from the Exome Variant Server RNF13_000005 3/13006 2/8600 1/4406 - - - - - - -
?/? c.114+36T>A r.(=) p.(=) g.149563963T>A Copied from the Exome Variant Server RNF13_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.115-40del r.(=) p.(=) g.149570263del Copied from the Exome Variant Server RNF13_000007 52/11898 30/7958 22/3940 - - - - - - -
?/? c.195+22T>A r.(=) p.(=) g.149570405T>A Copied from the Exome Variant Server RNF13_000008 1/12998 0/8592 1/4406 - - - - - - -
?/? c.195+35G>C r.(=) p.(=) g.149570418G>C Copied from the Exome Variant Server RNF13_000009 24/12992 0/8590 24/4402 - - - - - - -
?/? c.195+36G>A r.(=) p.(=) g.149570419G>A Copied from the Exome Variant Server RNF13_000011 36/12992 33/8590 3/4402 - - - - - - -
?/? c.195+39T>C r.(=) p.(=) g.149570422T>C Copied from the Exome Variant Server RNF13_000013 1/12992 0/8590 1/4402 - - - - - - -
?/? c.196-31_196-30del r.(=) p.(=) g.149589785_149589786del Copied from the Exome Variant Server RNF13_000015 26/12518 11/8252 15/4266 - - - - - - -
?/? c.196-21T>C r.(=) p.(=) g.149589795T>C Copied from the Exome Variant Server RNF13_000017 30/13004 27/8598 3/4406 - - - - - - -
?/? c.266C>T r.(?) p.(Ser89Leu) g.149589886C>T Copied from the Exome Variant Server RNF13_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.282C>T r.(=) p.(=) g.149589902C>T Copied from the Exome Variant Server RNF13_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.283G>C r.(?) p.(Val95Leu) g.149589903G>C Copied from the Exome Variant Server RNF13_000023 12/13006 1/8600 11/4406 - - - - - - -
?/? c.321+31C>G r.(=) p.(=) g.149589972C>G Copied from the Exome Variant Server RNF13_000025 1/13000 1/8598 0/4402 - - - - - - -
?/? c.321+33A>G r.(=) p.(=) g.149589974A>G Copied from the Exome Variant Server RNF13_000027 3/13000 0/8598 3/4402 - - - - - - -
?/? c.321+41A>T r.(=) p.(=) g.149589982A>T Copied from the Exome Variant Server RNF13_000028 1/12990 1/8588 0/4402 - - - - - - -
?/? c.363T>A r.(=) p.(=) g.149613301T>A Copied from the Exome Variant Server RNF13_000010 4/13006 4/8600 0/4406 - - - - - - -
?/? c.378T>C r.(=) p.(=) g.149613316T>C Copied from the Exome Variant Server RNF13_000012 2/13006 1/8600 1/4406 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.149613343C>T Copied from the Exome Variant Server RNF13_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.410-7T>A r.(=) p.(=) g.149619852T>A Copied from the Exome Variant Server RNF13_000016 4/12836 0/8488 4/4348 - - - - - - -
?/? c.410-6A>G r.(=) p.(=) g.149619853A>G Copied from the Exome Variant Server RNF13_000018 1/12846 0/8492 1/4354 - - - - - - -
?/? c.426A>C r.(?) p.(Lys142Asn) g.149619875A>C Copied from the Exome Variant Server RNF13_000020 1/12894 1/8514 0/4380 - - - - - - -
?/? c.433A>G r.(?) p.(Ile145Val) g.149619882A>G Copied from the Exome Variant Server RNF13_000022 1/12892 0/8516 1/4376 - - - - - - -
?/? c.451G>C r.(?) p.(Gly151Arg) g.149619900G>C Copied from the Exome Variant Server RNF13_000024 1/12896 0/8520 1/4376 - - - - - - -
?/? c.479A>G r.(?) p.(Asp160Gly) g.149619928A>G Copied from the Exome Variant Server RNF13_000026 3/12902 0/8518 3/4384 - - - - - - -
?/? c.492T>C r.(=) p.(=) g.149619941T>C Copied from the Exome Variant Server RNF13_000029 76/12898 67/8522 9/4376 - - - - - - -
?/? c.500+41T>G r.(=) p.(=) g.149619990T>G Copied from the Exome Variant Server RNF13_000030 1/12680 1/8432 0/4248 - - - - - - -
?/? c.501-48A>C r.(=) p.(=) g.149629717A>C Copied from the Exome Variant Server RNF13_000031 1/12994 1/8590 0/4404 - - - - - - -
?/? c.517G>A r.(?) p.(Val173Ile) g.149629781G>A Copied from the Exome Variant Server RNF13_000032 229/13002 0/8596 229/4406 - - - - - - -
?/? c.556C>T r.(?) p.(Pro186Ser) g.149629820C>T Copied from the Exome Variant Server RNF13_000034 2/12998 0/8592 2/4406 - - - - - - -
?/? c.556del r.(?) p.(Phe187Serfs*4) g.149629820del Copied from the Exome Variant Server RNF13_000033 93/12512 69/8246 24/4266 - - - - - - -
?/? c.606+8C>T r.(=) p.(=) g.149629878C>T Copied from the Exome Variant Server RNF13_000035 2/12996 2/8590 0/4406 - - - - - - -
?/? c.606+14C>T r.(=) p.(=) g.149629884C>T Copied from the Exome Variant Server RNF13_000036 156/12996 143/8590 13/4406 - - - - - - -
?/? c.607-43C>T r.(=) p.(=) g.149638878C>T Copied from the Exome Variant Server RNF13_000037 1/12864 0/8528 1/4336 - - - - - - -
?/? c.608T>C r.(?) p.(Ile203Thr) g.149638922T>C Copied from the Exome Variant Server RNF13_000038 2/12904 2/8522 0/4382 - - - - - - -
?/? c.655C>T r.(?) p.(Arg219Cys) g.149638969C>T Copied from the Exome Variant Server RNF13_000039 13/12954 0/8550 13/4404 - - - - - - -
?/? c.656G>A r.(?) p.(Arg219His) g.149638970G>A Copied from the Exome Variant Server RNF13_000040 1/12952 0/8548 1/4404 - - - - - - -
?/? c.680C>A r.(?) p.(Pro227His) g.149638994C>A Copied from the Exome Variant Server RNF13_000041 1/12952 1/8548 0/4404 - - - - - - -
?/? c.700+1_700+4del r.spl? p.? g.149639015_149639018del Copied from the Exome Variant Server RNF13_000042 1/12438 1/8190 0/4248 - - - - - - -
?/? c.700+7A>G r.(=) p.(=) g.149639021A>G Copied from the Exome Variant Server RNF13_000043 5/12924 4/8538 1/4386 - - - - - - -
?/? c.700+45C>T r.(=) p.(=) g.149639059C>T Copied from the Exome Variant Server RNF13_000044 16/12812 16/8494 0/4318 - - - - - - -
?/? c.701-44T>C r.(=) p.(=) g.149677799T>C Copied from the Exome Variant Server RNF13_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.701-17A>G r.(=) p.(=) g.149677826A>G Copied from the Exome Variant Server RNF13_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.701-11_701-10del r.(=) p.(=) g.149677832_149677833del Copied from the Exome Variant Server RNF13_000047 87/12520 43/8254 44/4266 - - - - - - -
?/? c.701-8G>C r.(=) p.(=) g.149677835G>C Copied from the Exome Variant Server RNF13_000048 96/13006 1/8600 95/4406 - - - - - - -
?/? c.760A>C r.(=) p.(=) g.149677902A>C Copied from the Exome Variant Server RNF13_000049 2/13006 2/8600 0/4406 - - - - - - -
?/? c.781+15G>A r.(=) p.(=) g.149677938G>A Copied from the Exome Variant Server RNF13_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.782-52A>G r.(=) p.(=) g.149678475A>G Copied from the Exome Variant Server RNF13_000051 29/5734 0/3982 29/1752 - - - - - - -
?/? c.782-40C>T r.(=) p.(=) g.149678487C>T Copied from the Exome Variant Server RNF13_000052 12/13006 4/8600 8/4406 - - - - - - -
?/? c.782-39G>A r.(=) p.(=) g.149678488G>A Copied from the Exome Variant Server RNF13_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.782-17A>G r.(=) p.(=) g.149678510A>G Copied from the Exome Variant Server RNF13_000054 3/13006 3/8600 0/4406 - - - - - - -
?/? c.789C>T r.(=) p.(=) g.149678534C>T Copied from the Exome Variant Server RNF13_000055 7948/13006 5891/8600 2057/4406 - - - - - - -
?/? c.799G>A r.(?) p.(Val267Ile) g.149678544G>A Copied from the Exome Variant Server RNF13_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.883G>A r.(?) p.(Asp295Asn) g.149678628G>A Copied from the Exome Variant Server RNF13_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.900A>G r.(=) p.(=) g.149678645A>G Copied from the Exome Variant Server RNF13_000058 2/13006 2/8600 0/4406 - - - - - - -
?/? c.978A>G r.(=) p.(=) g.149678723A>G Copied from the Exome Variant Server RNF13_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.980C>T r.(?) p.(Ser327Leu) g.149678725C>T Copied from the Exome Variant Server RNF13_000060 3/13006 2/8600 1/4406 - - - - - - -
?/? c.988C>T r.(?) p.(Arg330Cys) g.149678733C>T Copied from the Exome Variant Server RNF13_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.149678777C>T Copied from the Exome Variant Server RNF13_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.149678834C>T Copied from the Exome Variant Server RNF13_000063 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1102C>A r.(?) p.(Gln368Lys) g.149678847C>A Copied from the Exome Variant Server RNF13_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1118G>A r.(?) p.(Arg373Gln) g.149678863G>A Copied from the Exome Variant Server RNF13_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*38A>G r.(=) p.(=) g.149678929A>G Copied from the Exome Variant Server RNF13_000066 3/12992 0/8592 3/4400 - - - - - - -
Legend