Full data view for gene TTC33

Information The variants shown are described using the NM_012382.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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.-1-44del r.(=) p.(=) g.40747165del Copied from the Exome Variant Server TTC33_000048 1579/12320 1079/8162 500/4158 - - - - - - -
?/? c.-1-44dup r.(=) p.(=) g.40747165dup Copied from the Exome Variant Server TTC33_000047 1139/12320 765/8162 374/4158 - - - - - - -
?/? c.-1-41T>A r.(=) p.(=) g.40747162A>T Copied from the Exome Variant Server TTC33_000046 1/12984 1/8592 0/4392 - - - - - - -
?/? c.27A>G r.(=) p.(=) g.40747094T>C Copied from the Exome Variant Server TTC33_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.40G>T r.(?) p.(Val14Phe) g.40747081C>A Copied from the Exome Variant Server TTC33_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.56C>T r.(?) p.(Ser19Phe) g.40747065G>A Copied from the Exome Variant Server TTC33_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.106G>T r.(?) p.(Asp36Tyr) g.40747015C>A Copied from the Exome Variant Server TTC33_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135A>G r.(=) p.(=) g.40746986T>C Copied from the Exome Variant Server TTC33_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.154_156del r.(?) p.(Leu52del) g.40746965_40746967del Copied from the Exome Variant Server TTC33_000040 10/12520 9/8254 1/4266 - - - - - - -
?/? c.200C>G r.(?) p.(Ala67Gly) g.40746921G>C Copied from the Exome Variant Server TTC33_000039 2/13004 2/8598 0/4406 - - - - - - -
?/? c.221+15T>A r.(=) p.(=) g.40746885A>T Copied from the Exome Variant Server TTC33_000038 3558/13000 2133/8598 1425/4402 - - - - - - -
?/? c.221+24del r.(=) p.(=) g.40746876del Copied from the Exome Variant Server TTC33_000037 339/12504 226/8246 113/4258 - - - - - - -
?/? c.221+24dup r.(=) p.(=) g.40746876dup Copied from the Exome Variant Server TTC33_000036 310/12504 239/8246 71/4258 - - - - - - -
?/? c.222-19A>T r.(=) p.(=) g.40730464T>A Copied from the Exome Variant Server TTC33_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.222-15C>T r.(=) p.(=) g.40730460G>A Copied from the Exome Variant Server TTC33_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.227G>T r.(?) p.(Arg76Leu) g.40730440C>A Copied from the Exome Variant Server TTC33_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.240G>A r.(=) p.(=) g.40730427C>T Copied from the Exome Variant Server TTC33_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.303+12G>A r.(=) p.(=) g.40730352C>T Copied from the Exome Variant Server TTC33_000031 2/13006 1/8600 1/4406 - - - - - - -
?/? c.303+38del r.(=) p.(=) g.40730326del Copied from the Exome Variant Server TTC33_000030 11/12520 6/8254 5/4266 - - - - - - -
?/? c.303+39G>A r.(=) p.(=) g.40730325C>T Copied from the Exome Variant Server TTC33_000029 45/13006 42/8600 3/4406 - - - - - - -
?/? c.303+44_303+45del r.(=) p.(=) g.40730319_40730320del Copied from the Exome Variant Server TTC33_000028 1/12520 1/8254 0/4266 - - - - - - -
?/? c.304-41_304-35del r.(=) p.(=) g.40728613_40728619del Copied from the Exome Variant Server TTC33_000027 1/12508 1/8252 0/4256 - - - - - - -
?/? c.304-20_304-19insT r.(=) p.(=) g.40728597_40728598insA Copied from the Exome Variant Server TTC33_000026 40/12512 37/8254 3/4258 - - - - - - -
?/? c.304G>A r.(?) p.(Val102Met) g.40728578C>T Copied from the Exome Variant Server TTC33_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340C>G r.(?) p.(His114Asp) g.40728542G>C Copied from the Exome Variant Server TTC33_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.358G>A r.(?) p.(Val120Ile) g.40728524C>T Copied from the Exome Variant Server TTC33_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.435+11C>T r.(=) p.(=) g.40728436G>A Copied from the Exome Variant Server TTC33_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435+48A>C r.(=) p.(=) g.40728399T>G Copied from the Exome Variant Server TTC33_000021 1/12868 1/8522 0/4346 - - - - - - -
?/? c.436-33A>G r.(=) p.(=) g.40716633T>C Copied from the Exome Variant Server TTC33_000020 76/12928 73/8580 3/4348 - - - - - - -
?/? c.436-30A>G r.(=) p.(=) g.40716630T>C Copied from the Exome Variant Server TTC33_000019 1/12940 1/8586 0/4354 - - - - - - -
?/? c.436-16_436-15insT r.(=) p.(=) g.40716615_40716616insA Copied from the Exome Variant Server TTC33_000017 1/12490 1/8246 0/4244 - - - - - - -
?/? c.472C>G r.(?) p.(Pro158Ala) g.40716564G>C Copied from the Exome Variant Server TTC33_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.495A>G r.(=) p.(=) g.40716541T>C Copied from the Exome Variant Server TTC33_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.518C>T r.(?) p.(Thr173Met) g.40716518G>A Copied from the Exome Variant Server TTC33_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.523C>T r.(?) p.(Gln175*) g.40716513G>A Copied from the Exome Variant Server TTC33_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.559_560insA r.(?) p.(Ser187Lysfs*2) g.40716476_40716477insT Copied from the Exome Variant Server TTC33_000008 1/12520 1/8254 0/4266 - - - - - - -
?/? c.566C>T r.(?) p.(Ala189Val) g.40716470G>A Copied from the Exome Variant Server TTC33_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632T>C r.(?) p.(Ile211Thr) g.40716404A>G Copied from the Exome Variant Server TTC33_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.659A>G r.(?) p.(Glu220Gly) g.40716377T>C Copied from the Exome Variant Server TTC33_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.664G>C r.(?) p.(Glu222Gln) g.40716372C>G Copied from the Exome Variant Server TTC33_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.670A>T r.(?) p.(Thr224Ser) g.40716366T>A Copied from the Exome Variant Server TTC33_000003 36/13006 0/8600 36/4406 - - - - - - -
?/? c.677C>G r.(?) p.(Ser226*) g.40716359G>C Copied from the Exome Variant Server TTC33_000002 16/13006 15/8600 1/4406 - - - - - - -
?/? c.697A>G r.(?) p.(Ile233Val) g.40716339T>C Copied from the Exome Variant Server TTC33_000001 2/13006 0/8600 2/4406 - - - - - - -
?/? c.702G>C r.(=) p.(=) g.40716334C>G Copied from the Exome Variant Server TTC33_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784C>T r.(?) p.(Arg262*) g.40716252G>A Copied from the Exome Variant Server TTC33_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*11A>G r.(=) p.(=) g.40716236T>C Copied from the Exome Variant Server TTC33_000014 261/13006 241/8600 20/4406 - - - - - - -
?/? c.*43C>T r.(=) p.(=) g.40716204G>A Copied from the Exome Variant Server TTC33_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*45C>T r.(=) p.(=) g.40716202G>A Copied from the Exome Variant Server TTC33_000010 1/13004 0/8598 1/4406 - - - - - - -
Legend