All transcript variants in gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.67-49T>C r.(=) p.(=) g.8895607T>C - PMM2_000001 rs370414961 0.001969 1 508 1365 - - Admin
./. - c.178+142C>A r.(=) p.(=) g.8895909C>A - PMM2_000002 rs2304471 0.198 102 516 6621 - - Admin
./. - c.178+299G>C r.(=) p.(=) g.8896066G>C - PMM2_000003 rs2304470 0.469 242 516 5852 - - Admin
./. - c.178+326G>A r.(=) p.(=) g.8896093G>A - PMM2_000004 rs540755065 0.001938 1 516 5753 - - Admin
./. - c.178+327G>A r.(=) p.(=) g.8896094G>A - PMM2_000005 rs2304469 0.417 215 516 5815 - - Admin
./. - c.178+442G>C r.(=) p.(=) g.8896209G>C - PMM2_000006 rs75050524 0.005814 3 516 8053 - - Admin
./. - c.178+482G>A r.(=) p.(=) g.8896249G>A - PMM2_000007 rs113568118 0.003876 2 516 7185 - - Admin
./. - c.178+593C>G r.(=) p.(=) g.8896360C>G - PMM2_000008 rs116333686 0.005952 3 504 1684 - - Admin
./. - c.179-166A>G r.(=) p.(=) g.8898458A>G - PMM2_000009 rs8053440 0.141 72 512 2179 - - Admin
./. - c.179-126A>G r.(=) p.(=) g.8898498A>G - PMM2_000010 rs571186016 0.003876 2 516 4276 - - Admin
./. - c.179-22_179-21insT r.(=) p.(=) g.8898602_8898603insT - PMM2_000011 rs145496357 - - - - - - Admin
./. - c.255+103G>T r.(=) p.(=) g.8898803G>T - PMM2_000012 rs190653806 0.006024 3 498 967 - - Admin
./. - c.255+111A>T r.(=) p.(=) g.8898811A>T - PMM2_000013 rs77026919 0.046 22 476 854 - - Admin
./. - c.324G>A r.(=) p.(=) g.8900241G>A - PMM2_000014 rs62031146 0.019 10 516 7464 - - Admin
./. - c.347+172C>T r.(=) p.(=) g.8900436C>T - PMM2_000015 rs17566708 0.054 28 516 2710 - - Admin
./. - c.348-59_348-58insATG r.(=) p.(=) g.8904877_8904878insATG - PMM2_000016 rs1799772 - - - - - - Admin
./. - c.422G>A r.(?) p.(Arg141His) g.8905010G>A - PMM2_000017 rs28936415 0.003876 2 516 7536 - - Admin
./. - c.447+19T>C r.(=) p.(=) g.8905054T>C - PMM2_000018 rs11074924 0.424 219 516 5175 - - Admin
./. - c.447+22T>A r.(=) p.(=) g.8905057T>A - PMM2_000019 rs137862339 0.00969 5 516 4838 - - Admin
./. - c.448-92A>G r.(=) p.(=) g.8905403A>G - PMM2_000020 rs529694014 0.001938 1 516 1574 - - Admin
./. - c.448-81C>T r.(=) p.(=) g.8905414C>T - PMM2_000021 rs955786923 0.001938 1 516 1942 1 0 Admin
./. - c.448-30A>C r.(=) p.(=) g.8905465A>C - PMM2_000022 rs375265112 0.001938 1 516 4300 - - Admin
./. - c.487A>C r.(?) p.(Lys163Gln) g.8905534A>C - PMM2_000023 rs138383066 0.001938 1 516 8723 - - Admin
./. - c.523+3A>G r.spl? p.? g.8905573A>G - PMM2_000024 rs774107741 0.001938 1 516 9284 - - Admin
./. - c.523+52T>A r.(=) p.(=) g.8905622T>A - PMM2_000025 rs112454015 0.001938 1 516 9333 - - Admin
./. - c.523+139A>G r.(=) p.(=) g.8905709A>G - PMM2_000026 rs7194925 0.005814 3 516 5614 - - Admin
./. - c.590A>C r.(?) p.(Glu197Ala) g.8906914A>C - PMM2_000027 rs34258285 0.025 13 516 9613 - - Admin
./. - c.639+19G>C r.(=) p.(=) g.8906982G>C - PMM2_000028 rs145473288 0.001938 1 516 9673 - - Admin
./. - c.639+30T>C r.(=) p.(=) g.8906993T>C - PMM2_000029 rs76786263 0.001938 1 516 9619 - - Admin
./. - c.639+57A>G r.(=) p.(=) g.8907020A>G - PMM2_000030 rs113688413 0.003876 2 516 9290 - - Admin
./. - c.639+62C>T r.(=) p.(=) g.8907025C>T - PMM2_000031 rs3743807 0.159 82 516 9463 - - Admin
./. - c.639+70C>G r.(=) p.(=) g.8907033C>G - PMM2_000032 rs150243626 0.005814 3 516 8695 - - Admin
./. - c.639+114C>G r.(=) p.(=) g.8907077C>G - PMM2_000033 rs191908746 0.001938 1 516 5887 - - Admin
./. - c.639+177C>A r.(=) p.(=) g.8907140C>A - PMM2_000034 rs911607220 0.001938 1 516 2888 1 0 Admin
./. - c.639+182G>T r.(=) p.(=) g.8907145G>T - PMM2_000035 rs9924186 0.783 404 516 2789 - - Admin
./. - c.640-92_640-91insT r.(=) p.(=) g.8941489_8941490insT - PMM2_000036 rs201721768 - - - - - - Admin
./. - c.640-46G>A r.(=) p.(=) g.8941535G>A - PMM2_000037 rs113866602 0.005814 3 516 8723 - - Admin
./. - c.713G>A r.(?) p.(Arg238His) g.8941654G>A - PMM2_000038 rs151319324 0.001938 1 516 8328 - - Admin
./. - c.*17G>A r.(=) p.(=) g.8941699G>A - PMM2_000039 rs9936097 0.005814 3 516 5055 - - Admin
./. - c.*27_*28insTATGTGGTTTCGTGAACGATTAATAATTTCAATCGTGAAAGTCGCTGCATGTAATTGACCTGTCGTGAAATCTGT r.(=) p.(=) g.8941709_8941710insTATGTGGTTTCGTGAACGATTAATAATTTCAATCGTGAAAGTCGCTGCATGTAATTGACCTGTCGTGAAATCTGT - PMM2_000040 - - - - - - - Admin
./. - c.*91C>T r.(=) p.(=) g.8941773C>T - PMM2_000041 rs569118186 0.002 1 500 2005 - - Admin
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