All transcript variants in gene MAPK8

Information The variants shown are described using the NM_002750.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.27T>G r.(?) p.(Asn9Lys) g.49609730T>G Copied from the Exome Variant Server MAPK8_000001 1/13006 0/8600 1/4406
?/? c.48A>G r.(=) p.(=) g.49609751A>G Copied from the Exome Variant Server MAPK8_000002 1/13006 1/8600 0/4406
?/? c.64G>A r.(?) p.(Val22Ile) g.49609767G>A Copied from the Exome Variant Server MAPK8_000003 1/13006 1/8600 0/4406
?/? c.108T>C r.(=) p.(=) g.49609811T>C Copied from the Exome Variant Server MAPK8_000004 2/13006 0/8600 2/4406
?/? c.123-51A>C r.(=) p.(=) g.49612844A>C Copied from the Exome Variant Server MAPK8_000005 458/12988 391/8598 67/4390
?/? c.123-3C>T r.spl? p.? g.49612892C>T Copied from the Exome Variant Server MAPK8_000006 1/13006 0/8600 1/4406
?/? c.136G>A r.(?) p.(Ala46Thr) g.49612908G>A Copied from the Exome Variant Server MAPK8_000007 2/13006 2/8600 0/4406
?/? c.180A>G r.(=) p.(=) g.49612952A>G Copied from the Exome Variant Server MAPK8_000008 1/13006 0/8600 1/4406
?/? c.253-22_253-21del r.(=) p.(=) g.49617900_49617901del Copied from the Exome Variant Server MAPK8_000009 4/12338 1/8172 3/4166
?/? c.253-21G>A r.(=) p.(=) g.49617901G>A Copied from the Exome Variant Server MAPK8_000010 11/12836 0/8526 11/4310
?/? c.311+14T>C r.(=) p.(=) g.49617994T>C Copied from the Exome Variant Server MAPK8_000011 1/13006 1/8600 0/4406
?/? c.311+37A>G r.(=) p.(=) g.49618017A>G Copied from the Exome Variant Server MAPK8_000012 466/13004 394/8600 72/4404
?/? c.312-28T>C r.(=) p.(=) g.49618045T>C Copied from the Exome Variant Server MAPK8_000013 1/13006 1/8600 0/4406
?/? c.348C>T r.(=) p.(=) g.49618109C>T Copied from the Exome Variant Server MAPK8_000014 1/13006 1/8600 0/4406
?/? c.450+20G>A r.(=) p.(=) g.49618231G>A Copied from the Exome Variant Server MAPK8_000015 60/13006 1/8600 59/4406
?/? c.451-39A>G r.(=) p.(=) g.49628159A>G Copied from the Exome Variant Server MAPK8_000016 1/13000 1/8598 0/4402
?/? c.451-34A>C r.(=) p.(=) g.49628164A>C Copied from the Exome Variant Server MAPK8_000017 1/13006 1/8600 0/4406
?/? c.469A>G r.(?) p.(Ile157Val) g.49628216A>G Copied from the Exome Variant Server MAPK8_000018 1/13006 1/8600 0/4406
?/? c.526G>T r.(?) p.(Ala176Ser) g.49628273G>T Copied from the Exome Variant Server MAPK8_000019 1/13006 0/8600 1/4406
?/? c.549G>A r.(=) p.(=) g.49628296G>A Copied from the Exome Variant Server MAPK8_000020 1/13006 1/8600 0/4406
?/? c.561G>A r.(=) p.(=) g.49628308G>A Copied from the Exome Variant Server MAPK8_000021 1/13006 1/8600 0/4406
?/? c.582C>T r.(=) p.(=) g.49628329C>T Copied from the Exome Variant Server MAPK8_000022 4/13006 3/8600 1/4406
?/? c.633G>A r.(=) p.(=) g.49632147G>A Copied from the Exome Variant Server MAPK8_000023 1/13006 1/8600 0/4406
?/? c.677C>T r.(?) p.(Pro226Leu) g.49632191C>T Copied from the Exome Variant Server MAPK8_000024 1/13006 0/8600 1/4406
?/? c.688+9G>A r.(=) p.(=) g.49632211G>A Copied from the Exome Variant Server MAPK8_000025 3/13006 0/8600 3/4406
?/? c.688+16T>G r.(=) p.(=) g.49632218T>G Copied from the Exome Variant Server MAPK8_000026 1/13006 1/8600 0/4406
?/? c.688+44_688+46del r.(=) p.(=) g.49632246_49632248del Copied from the Exome Variant Server MAPK8_000027 1/12518 0/8254 1/4264
?/? c.688+291_688+292del r.(=) p.(=) g.49632493_49632494del Copied from the Exome Variant Server MAPK8_000028 3/12510 2/8254 1/4256
?/? c.688+297_688+298del r.(=) p.(=) g.49632499_49632500del Copied from the Exome Variant Server MAPK8_000029 17/12514 12/8254 5/4260
?/? c.688+297_688+298dup r.(=) p.(=) g.49632499_49632500dup Copied from the Exome Variant Server MAPK8_000030 3/12514 3/8254 0/4260
?/? c.688+298del r.(=) p.(=) g.49632500del Copied from the Exome Variant Server MAPK8_000032 363/12514 258/8254 105/4260
?/? c.688+298dup r.(=) p.(=) g.49632500dup Copied from the Exome Variant Server MAPK8_000031 104/12514 66/8254 38/4260
?/? c.688+298_688+299insTTT r.(=) p.(=) g.49632500_49632501insTTT Copied from the Exome Variant Server MAPK8_000033 32/12514 16/8254 16/4260
?/? c.688+435A>G r.(=) p.(=) g.49632637A>G Copied from the Exome Variant Server MAPK8_000034 3/13006 2/8600 1/4406
?/? c.688+461A>C r.(=) p.(=) g.49632663A>C Copied from the Exome Variant Server MAPK8_000035 43/13006 0/8600 43/4406
?/? c.689-672A>G r.(=) p.(=) g.49633259A>G Copied from the Exome Variant Server MAPK8_000036 34/5730 0/3982 34/1748
?/? c.689-32A>G r.(=) p.(=) g.49633899A>G Copied from the Exome Variant Server MAPK8_000037 6/13002 0/8596 6/4406
?/? c.746T>C r.(?) p.(Met249Thr) g.49633988T>C Copied from the Exome Variant Server MAPK8_000038 1/13006 1/8600 0/4406
?/? c.871+45_871+46insGTGTGT r.(=) p.(=) g.49634158_49634159insGTGTGT Copied from the Exome Variant Server MAPK8_000039 25/12478 13/8240 12/4238
?/? c.871+48G>A r.(=) p.(=) g.49634161G>A Copied from the Exome Variant Server MAPK8_000040 1/12994 1/8594 0/4400
?/? c.872-26G>A r.(=) p.(=) g.49634397G>A Copied from the Exome Variant Server MAPK8_000041 1/13006 1/8600 0/4406
?/? c.948C>G r.(=) p.(=) g.49634499C>G Copied from the Exome Variant Server MAPK8_000042 1/13006 0/8600 1/4406
?/? c.957G>A r.(=) p.(=) g.49634508G>A Copied from the Exome Variant Server MAPK8_000043 4/13006 4/8600 0/4406
?/? c.965A>G r.(?) p.(Asn322Ser) g.49634516A>G Copied from the Exome Variant Server MAPK8_000044 1/13006 1/8600 0/4406
?/? c.996+46G>A r.(=) p.(=) g.49634593G>A Copied from the Exome Variant Server MAPK8_000045 1/13006 1/8600 0/4406
?/? c.997-51T>A r.(=) p.(=) g.49635072T>A Copied from the Exome Variant Server MAPK8_000046 585/13006 314/8600 271/4406
?/? c.997-37C>T r.(=) p.(=) g.49635086C>T Copied from the Exome Variant Server MAPK8_000047 1/13006 0/8600 1/4406
?/? c.1061-58C>T r.(=) p.(=) g.49639178C>T Copied from the Exome Variant Server MAPK8_000048 4/4566 0/3182 4/1384
?/? c.1061-33T>C r.(=) p.(=) g.49639203T>C Copied from the Exome Variant Server MAPK8_000049 1/13006 1/8600 0/4406
?/? c.1061-27G>C r.(=) p.(=) g.49639209G>C Copied from the Exome Variant Server MAPK8_000050 2/13006 0/8600 2/4406
?/? c.1080T>C r.(=) p.(=) g.49639255T>C Copied from the Exome Variant Server MAPK8_000051 1/13006 1/8600 0/4406
?/? c.1082T>C r.(?) p.(Met361Thr) g.49639257T>C Copied from the Exome Variant Server MAPK8_000052 1/13006 0/8600 1/4406
?/? c.1138+26A>G r.(=) p.(=) g.49639339A>G Copied from the Exome Variant Server MAPK8_000053 1/13006 0/8600 1/4406
?/? c.1139-69C>T r.(=) p.(=) g.49642853C>T Copied from the Exome Variant Server MAPK8_000054 26/4566 19/3182 7/1384
?/? c.1139-56_1139-55insC r.(=) p.(=) g.49642866_49642867insC Copied from the Exome Variant Server MAPK8_000055 7/12518 0/8254 7/4264
?/? c.*29G>A r.(=) p.(=) g.49642967G>A Copied from the Exome Variant Server MAPK8_000056 8/13006 4/8600 4/4406
?/? c.*32G>A r.(=) p.(=) g.49642970G>A Copied from the Exome Variant Server MAPK8_000057 1/13006 0/8600 1/4406
?/? c.*40A>G r.(=) p.(=) g.49642978A>G Copied from the Exome Variant Server MAPK8_000058 1/13006 1/8600 0/4406
?/? c.*103C>T r.(=) p.(=) g.49643041C>T Copied from the Exome Variant Server MAPK8_000059 1/13006 1/8600 0/4406
?/? c.*151G>T r.(=) p.(=) g.49643089G>T Copied from the Exome Variant Server MAPK8_000060 1/13006 1/8600 0/4406
?/? c.*172C>T r.(=) p.(=) g.49643110C>T Copied from the Exome Variant Server MAPK8_000061 2/12994 2/8590 0/4404
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