Transcript #00000024 (NM_004006.2, DMD gene)

Transcript name dystrophin, transcript variant Dp427m
Gene name DMD (dystrophin)
Chromosome X
Transcript - NCBI ID NM_004006.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003997.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31760 entries on 318 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1i_79 c.(-182_59)_(*1524_?)del r.? p.?
+/. 1i_79 c.(-182_59)_(*1524_?)del r.? p.?
+/. 0i_79 c.(-194_-144)_(*1564_*1614)del r.0? p.?
+/. 0i_79 c.(-60_-10)_(*10_*60)del r.0? p.?
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.?
+/. 17i_27i c.(2085_2226)_(3664_3813)del r.? p.?
+/. 34i_35i c.(4740_4891)_(4891_5081)del r.? p.?
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 45i_50i c.(6538_6706)_(7309+14_7423)del r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.?
+/. 55i_79 c.(8218-60_8218-10)_(*10_*60)del r.? p.?
+/. 56i_79 c.(8391-4555_8391-4505)_(*2548_*2598)del r.? p.?
+/. 59i_79 c.(8798_8968)_(*1524_?)del r.? p.?
./. 60i_79_ c.(8968_9118)_*2691dup r.? -
./. 60i_79_ c.(8968_9118)_*2691dup r.? -
+/. 62i_79 c.(9187_9246)_(*1524_?)dup r.? p.?
+/. 62i_78i c.(9187_9246)_(11046+44_*1524)del r.? p.fs
+/. 62i_78i c.(9187_9246)_(11046+44_*1524)del r.? p.fs
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.?
+/. 0i_1i c.-241_(31+1_32-1){0} r.? p.?
+/. 0i_79_ c.-244(_-182)_(*1524_?){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-182)_(*1524_?){0} r.? p.(fs*)
+/. 0i_79 c.-244(_-182)_(*1524_?){0} r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.(fs*)
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){2} r.? p.?
+/. 0i_12i c.-244(_-182)_(1403_1602){0} r.? p.(fs*)
+/. 0i_13i c.-244(_-182)_(1602_1603-7){0} r.? p.0?
+/. 0i_16i c.-244(_-182)_(1852_2085){0} r.? p.(fs*)
+/. 0i_18i c.-244(_-182)_(2226_2293-9){0} r.? p.0?
+/. 0i_6i c.-244(_-182)_(411_558){0} r.0? p.0?
+/. 0i_2i c.-244(_-182)_(59_128){0} r.? p.?
+/. 0i_2i c.-244(_-182)_(59_128){0} r.? p.(fs*)
+/. 0i_2i c.-244(_-182)_(59_128){0} r.0? p.0?
+/. 0i_2i c.-244(_-182)_(59_128){2} r.? p.?
+/. 0i_2i c.-244(_-182)_(59_128){2} r.? p.?
+?/. 0i_2i c.-244(_-182)_(59_128){2} r.? p.?
+/. 0i_43i c.-244(_-182)_(6196_6382){0} r.? p.?
+/. 0i_44i c.-244(_-182)_(6382_6538){0} r.? p.?
+/. 0i_44i c.-244(_-182)_(6382_6538){0} r.? p.?
+/. 0i_44i c.-244(_-182)_(6382_6538){0} r.? p.(fs*)
+/. 0i_44i c.-244(_-182)_(6382_6538){0} r.0? p.0?
+/. 0i_47i c.-244(_-182)_(6810_7018){0} r.? p.?
+/. 0i_48i c.-244(_-182)_(7018_7099-10)del r.? p.?
+/. 0i_48i c.-244(_-182)_(7018_7099-10){0} r.? p.(fs*)
./. 0i_55i c.-244(_-182)_(8069_8390+28){0} r.? p.?
+/. 0i_9i c.-244(_-182)_(859_988)del r.? p.?
+/. 0i_9i c.-244(_-182)_(859_988){0} r.? p.(fs*)
+/. 0i_60i c.-244(_-182)_(8968_9118){0} r.? p.?
+/. 0i_60i c.-244(_-182)_(8968_9118){0} r.? p.?
+/. 0i_62i c.-244(_-182)_(9187_9246){0} r.? p.?
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
./. _0_1i c.-244_(-182_59){0} r.? p.?
./. _0_1i c.-244_(-182_59){0} r.? p.?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
+/. _0_1i c.-244_(-182_59){0} r.? p.0?
+/. _0_1i c.-244_(-182_59){2} r.? p.?
+/. _0_1i c.-244_(-18{0}2_59){0} r.? p.?
./. _0_17i c.-244_(2085_2226){0} r.? p.?
+/. _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*)
+/. _0_2i c.-244_(59_128){0} r.? p.?
+/. _0_2i c.-244_(59_128){0} r.? p.(fs*)
./. 0i_2i c.-244_(59_128){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.(fs*)
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_47i c.-244_(6810_7018){0} r.0? p.0?
+/. _0_2i c.-244_(93+17277_93+17327){2} r.? p.?
+/. _0_2i c.-244_(93+1_94-1){2} r.? p.?
+/. _0_79_ c.-244_*2691{0} r.0 p.0
+/. _0_79_ c.-244_*2691{0} r.0? p.?
+/. _0_79_ c.-244_*2691{0} r.0? p.?
./. _0_0i c.-244_-244(_-182)del r.? p.?
+/. _0_1i c.-244__(-182_59){0} r.? p.?
+/. _0_29i c.-244__(3991_4194)del r.? p.?
+/. _0_2i c.-244__(59_128)del r.? p.?
+/. _0_2i c.-244__(59_128)del r.? p.?
+/. _0_2i c.-244__(59_128){0} r.? p.0?
+/. _0_43i c.-244__(6196_6382){0} r.? p.0?
+/. _0_44i c.-244__(6382_6538)del r.? p.?
+/. _0_51i c.-244__(7423_7629){0} r.? p.?
+/. 24 C.3242C>A r.(?) p.(Ser1081*)
+/. 31 c.4312 C>T r.(?) p.(Gln1438*)
+/. 49i c.7201-3 A>G r.spl? p.?
+/. 0i_40i c.? r.? p.?
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »