Transcript #00001610 (NM_003494.3, DYSF gene)

Transcript name transcript variant 8
Gene name DYSF (dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive))
Chromosome 2
Transcript - NCBI ID NM_003494.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003485.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

4181 entries on 42 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_12i c.(?_-376)_(1180+1_1181-1)dup) r.? p.?
?/. _1_20i c.(?_-376)_(1930+1_1931-1)dup r.? p.?
+/. _1_22i c.(?_-376)_(2162+1_2163-1)dup r.? p.?
-/. 1 c.-118C>T r.(?) p.(=)
+/. 20 c.(2163_2355)? r.spl? p.?
+/. 50i c.(5667+1_5668-1)? r.spl p.?
+/. 50i c.(5667+1_5668-1)? r.5667_5668ins(180) p.?
-/. 2i c.145-181_145-150CCAT[4_9] r.(?) p.(=)
-/. 2i c.145-181_145-150CCAT[4_9] r.(?) p.(=)
-/. 40i c.4411-3224_4411-3195GT[13_17] r.(=) p.(=)
+/. - c.? r.? p.?
?/. 1 c.8G>A r.(?) p.(Arg3Lys)
?/. 1 c.17T>A r.(?) p.(Ile6Asn)
?/. 1 c.20T>C r.(?) p.(Leu7Pro)
+/. 1 c.75del r.(?) p.(Ala26Argfs*6)
?/. 1i c.88+38G>T r.(?) p.(=)
-/. 1 c.88+69C>T r.(?) p.(=)
-?/. 1i c.88+12629G>A r.(=) p.(=)
-?/. 1i c.88+12629G>A r.(=) p.(=)
-?/. 1i c.88+12629G>A r.(=) p.(=)
-?/. 1i c.88+12727G>A r.(=) p.(=)
-?/. 1i c.88+12727G>A r.(=) p.(=)
-?/. 1i c.88+12727G>A r.(=) p.(=)
+/. 1i_40i c.89-643_4411-2493del r.89_4410del p.Val31Glyfs*29
-/. 2 c.89-49G>T r.(?) p.(=)
-/. 1i c.89-29C>G r.(=) p.(=)
-/. 1i c.89-29C>G r.(=) p.(=)
?/. 1i c.89-3T>C r.(spl?) p.(?)
?/. - c.89-2A>G r.spl p.?
?/. - c.89-2A>G r.spl p.?
+/. - c.89-1G>A r.spl p.?
+/. 1i c.89-1G>C r.spl p.?
+/. 1i c.89-1G>C r.spl p.?
+/. 1i_2i c.(88+1_89-1)_(144+1_145-1)del r.? p.?
+/. 1i_5i c.(88+1_89-1)_(457+1_458-1)del r.89_457del p.Gly30_Ala152del
+/. 2 c.91del r.spl? p.(Val31*)
+/. 2 c.94A>T r.(?) p.(Lys32*)
+/. 2 c.94A>T r.(?) p.(Lys32*)
+/. 2 c.105del r.(?) p.(Val37Serfs*6)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12)
+?/. 2 c.115_125dup r.(?) p.(Asn43Argfs*4)
?/. 2 c.124G>A r.(?) p.(Val42Met)
?/. 2 c.124G>A r.(?) p.(Val42Met)
?/. 2 c.129C>A r.(?) p.(Asn43Lys)
+?/. 2 c.136T>C r.(?) p.(Trp46Arg)
?/. - c.136T>C r.(?) p.(Trp46Arg)
+/. 2 c.140_143dup r.(?) p.(Gly49*)
+/. - c.140_143dup r.(?) p.(Gly49Ter)
+/. - c.140_143dup r.(?) p.(Gly49Ter)
+/. - c.144+1G>A r.spl p.?
+/. 2i c.144+1G>A r.spl p.?
+/. 2i c.144+1G>A r.spl p.?
+/. - c.144+1G>A r.spl p.?
+/. - c.144+1G>A r.spl p.?
+/. - c.144+1G>A r.spl p.?
-/. 2i c.144+46del r.(=) p.(=)
-/. 2i c.144+46del r.(=) p.(=)
-/. 2i c.144+46del r.(=) p.(=)
-/. 2i c.144+46del r.(=) p.(=)
?/. 2i_3i c.(144+1_145-1)_(236+1_237-1)del r.? p.?
+/. 3 c.154T>C r.154u>c p.Trp52Arg
+/. 3 c.154T>C r.(?) p.(Trp52Arg)
+/. 3 c.156G>A r.(?) p.(Trp52*)
+/. - c.156G>A r.(?) p.(Trp52Ter)
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8)
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8)
+/. - c.164dup r.(?) p.(Ile57Hisfs*8)
+/. - c.164dup r.(?) p.(Ile57Hisfs*8)
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8)
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8)
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8)
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8)
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92)
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92)
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92)
+/. 3 c.176del r.(?) p.(Leu59Argfs*92)
+/. - c.176del r.(?) p.(Leu59ArgfsTer92)
+/. - c.176del r.(?) p.(Leu59Argfs*92)
+/. - c.200_201delinsAT r.(?) p.(Val67Asp)
+/. - c.200_201delinsAT r.(?) p.(Val67Asp)
+?/. - c.200_201delinsAT r.(?) p.(Val67Asp)
+?/. - c.200_201delinsAT r.(?) p.(Val67Asp)
+/. 3 c.200_201delinsAT r.(?) p.(Val67Asp)
?/. 3 c.202G>C r.(?) p.(Val68Leu)
?/. 3 c.206T>G r.(?) p.(Val69Gly)
?/. 3 c.221C>T r.(?) p.(Thr74Met)
+/. 3i c.236+1G>T r.spl p.?
+/. 3i c.236+1G>T r.143_236del p.Gly51Valfs*17
+/. 3i c.236+1G>T r.143_236del p.Gly51Valfs*17
-/. 3i c.236+20G>A r.(?) p.(=)
-/. - c.236+20G>A r.(=) p.(=)
-/. 3i c.236+20G>A r.(=) p.(=)
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