Transcript #00014202 (NM_006790.2, MYOT gene)

Transcript name transcript variant 1
Gene name MYOT (myotilin)
Chromosome 5
Transcript - NCBI ID NM_006790.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006781.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

184 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-13375330_*8494211dup - -
-/. 1 c.-251A>G r.(?) p.(=)
?/. - c.-214C>T r.(?) p.(=)
-/. 1 c.-124T>G r.(?) p.(=)
+/. - c.17G>A r.(?) p.(Arg6His)
?/. 2 c.34C>G r.(?) p.(Gln12Glu)
+/. 2 c.106A>G r.(?) p.(Lys36Glu)
+/. 2 c.106A>G r.(?) p.(Lys36Glu)
+/. 2 c.116C>T r.(?) p.(Ser39Phe)
+/. 2 c.116C>T r.(?) p.(Ser39Phe)
+/. 2 c.116C>T r.(?) p.(Ser39Phe)
-?/. - c.120T>A r.(?) p.(Ile40=)
?/. 2 c.122T>C r.(?) p.(Ile41Thr)
?/. - c.140G>A r.(?) p.(Cys47Tyr)
-/. - c.149A>G r.(?) p.(Gln50Arg)
-/. 2 c.149A>G r.(?) p.(Gln50Arg)
+/. - c.163T>C r.(?) p.(Ser55Pro)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+?/. - c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.164C>T r.(?) p.(Ser55Phe)
+/. 2 c.(170C>T) r.170c>u p.Thr57Ile
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.(?) p.(Thr57Ile)
+/. 2 c.170C>T r.170c>u p.Thr57Ile
+?/. - c.170del r.(?) p.(Thr57Asnfs*2)
+?/. - c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
?/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+?/. - c.179C>G r.(?) p.(Ser60Cys)
+/. - c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>G r.(?) p.(Ser60Cys)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+?/. - c.179C>T r.(?) p.(Ser60Phe)
+?/. - c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. - c.179C>T r.(?) p.(Ser60Phe)
+?/. - c.179C>T r.(?) p.(Ser60Phe)
?/. - c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+?/. - c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
+/. 2 c.179C>T r.(?) p.(Ser60Phe)
?/. - c.194C>T r.(?) p.(Ser65Phe)
+?/. - c.208_209insG r.(?) p.(Pro70ArgfsTer21)
-/. - c.220= r.(=) p.(Gln74=)
-?/. - c.220= r.(=) p.(Gln74=)
-/. - c.220= r.(=) p.(Gln74=)
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