Full data view for gene MAP2K3

Information The variants shown are described using the NM_145109.2 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-49C>T r.(=) p.(=) g.21188184C>T Copied from the Exome Variant Server MAP2K3_000001 49/12930 0/8564 49/4366 - - - - - - -
?/? c.-21C>T r.(=) p.(=) g.21188212C>T Copied from the Exome Variant Server MAP2K3_000002 2/12988 2/8592 0/4396 - - - - - - -
?/? c.49+38G>A r.(=) p.(=) g.21188319G>A Copied from the Exome Variant Server MAP2K3_000003 8/12812 8/8476 0/4336 - - - - - - -
?/? c.49+49G>C r.(=) p.(=) g.21188330G>C Copied from the Exome Variant Server MAP2K3_000004 3/12706 1/8396 2/4310 - - - - - - -
?/? c.50-58T>C r.(=) p.(=) g.21201667T>C Copied from the Exome Variant Server MAP2K3_000005 125/5734 120/3982 5/1752 - - - - - - -
?/? c.50-24C>T r.(=) p.(=) g.21201701C>T Copied from the Exome Variant Server MAP2K3_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.73C>T r.(=) p.(=) g.21201748C>T Copied from the Exome Variant Server MAP2K3_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.75A>C r.(=) p.(=) g.21201750A>C Copied from the Exome Variant Server MAP2K3_000008 97/13006 0/8600 97/4406 - - - - - - -
?/? c.90G>T r.(?) p.(Met30Ile) g.21201765G>T Copied from the Exome Variant Server MAP2K3_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.102C>A r.(=) p.(=) g.21201777C>A Copied from the Exome Variant Server MAP2K3_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103G>A r.(?) p.(Ala35Thr) g.21201778G>A Copied from the Exome Variant Server MAP2K3_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.116C>T r.(?) p.(Thr39Ile) g.21201791C>T Copied from the Exome Variant Server MAP2K3_000012 28/13006 0/8600 28/4406 - - - - - - -
?/? c.116+1G>A r.spl? p.? g.21201792G>A Copied from the Exome Variant Server MAP2K3_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.116+19C>G r.(=) p.(=) g.21201810C>G Copied from the Exome Variant Server MAP2K3_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.116+29C>A r.(=) p.(=) g.21201820C>A Copied from the Exome Variant Server MAP2K3_000015 5/13006 5/8600 0/4406 - - - - - - -
?/? c.116+42C>T r.(=) p.(=) g.21201833C>T Copied from the Exome Variant Server MAP2K3_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.117-38G>T r.(=) p.(=) g.21202152G>T Copied from the Exome Variant Server MAP2K3_000017 390/13006 108/8600 282/4406 - - - - - - -
?/? c.117-21C>T r.(=) p.(=) g.21202169C>T Copied from the Exome Variant Server MAP2K3_000018 4/13006 2/8600 2/4406 - - - - - - -
?/? c.117-20G>A r.(=) p.(=) g.21202170G>A Copied from the Exome Variant Server MAP2K3_000019 17/13006 13/8600 4/4406 - - - - - - -
?/? c.125G>A r.(?) p.(Arg42Gln) g.21202198G>A Copied from the Exome Variant Server MAP2K3_000020 2/13006 2/8600 0/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.21202202C>T Copied from the Exome Variant Server MAP2K3_000021 3/13006 2/8600 1/4406 - - - - - - -
?/? c.143C>T r.(?) p.(Thr48Ile) g.21202216C>T Copied from the Exome Variant Server MAP2K3_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.149T>G r.(?) p.(Ile50Ser) g.21202222T>G Copied from the Exome Variant Server MAP2K3_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155T>C r.(?) p.(Ile52Thr) g.21202228T>C Copied from the Exome Variant Server MAP2K3_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.162C>A r.(?) p.(Asp54Glu) g.21202235C>A Copied from the Exome Variant Server MAP2K3_000025 129/13006 0/8600 129/4406 - - - - - - -
?/? c.165+13C>T r.(=) p.(=) g.21202251C>T Copied from the Exome Variant Server MAP2K3_000026 5/13006 4/8600 1/4406 - - - - - - -
?/? c.165+30C>G r.(=) p.(=) g.21202268C>G Copied from the Exome Variant Server MAP2K3_000027 1/13002 1/8598 0/4404 - - - - - - -
?/? c.165+50C>T r.(=) p.(=) g.21202288C>T Copied from the Exome Variant Server MAP2K3_000028 4/13000 4/8598 0/4402 - - - - - - -
?/? c.270G>A r.(?) p.(Met90Ile) g.21203961G>A Copied from the Exome Variant Server MAP2K3_000029 50/13004 45/8600 5/4404 - - - - - - -
?/? c.316C>T r.(?) p.(Arg106Trp) g.21204222C>T Copied from the Exome Variant Server MAP2K3_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.347G>A r.(?) p.(Arg116His) g.21204253G>A Copied from the Exome Variant Server MAP2K3_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.356A>T r.(?) p.(Asp119Val) g.21204262A>T Copied from the Exome Variant Server MAP2K3_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.360T>C r.(=) p.(=) g.21204266T>C Copied from the Exome Variant Server MAP2K3_000033 6818/13006 4413/8600 2405/4406 - - - - - - -
?/? c.363C>T r.(=) p.(=) g.21204269C>T Copied from the Exome Variant Server MAP2K3_000034 3/13006 0/8600 3/4406 - - - - - - -
?/? c.390A>G r.(=) p.(=) g.21204296A>G Copied from the Exome Variant Server MAP2K3_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.399+25G>T r.(=) p.(=) g.21204330G>T Copied from the Exome Variant Server MAP2K3_000036 3/13006 0/8600 3/4406 - - - - - - -
?/? c.399+33C>T r.(=) p.(=) g.21204338C>T Copied from the Exome Variant Server MAP2K3_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.399+45A>G r.(=) p.(=) g.21204350A>G Copied from the Exome Variant Server MAP2K3_000038 4/13006 0/8600 4/4406 - - - - - - -
?/? c.400-15G>C r.(=) p.(=) g.21205440G>C Copied from the Exome Variant Server MAP2K3_000039 3/13006 3/8600 0/4406 - - - - - - -
?/? c.400-7C>T r.(=) p.(=) g.21205448C>T Copied from the Exome Variant Server MAP2K3_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.418A>G r.(?) p.(Met140Val) g.21205473A>G Copied from the Exome Variant Server MAP2K3_000041 2/13006 0/8600 2/4406 - - - - - - -
?/? c.447G>C r.(?) p.(Lys149Asn) g.21205502G>C Copied from the Exome Variant Server MAP2K3_000042 4/13006 4/8600 0/4406 - - - - - - -
?/? c.454C>T r.(?) p.(Arg152Trp) g.21205509C>T Copied from the Exome Variant Server MAP2K3_000043 11/13006 2/8600 9/4406 - - - - - - -
?/? c.455G>A r.(?) p.(Arg152Gln) g.21205510G>A Copied from the Exome Variant Server MAP2K3_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.506T>C r.(?) p.(Ile169Thr) g.21205561T>C Copied from the Exome Variant Server MAP2K3_000045 15/13006 14/8600 1/4406 - - - - - - -
?/? c.516+22_516+23del r.(=) p.(=) g.21205593_21205594del Copied from the Exome Variant Server MAP2K3_000046 6239/12518 4116/8254 2123/4264 - - - - - - -
?/? c.517-5G>A r.spl? p.? g.21206490G>A Copied from the Exome Variant Server MAP2K3_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558G>C r.(=) p.(=) g.21206536G>C Copied from the Exome Variant Server MAP2K3_000048 9/13006 0/8600 9/4406 - - - - - - -
?/? c.568+10C>T r.(=) p.(=) g.21206556C>T Copied from the Exome Variant Server MAP2K3_000049 6758/13006 4503/8600 2255/4406 - - - - - - -
?/? c.568+22A>G r.(=) p.(=) g.21206568A>G Copied from the Exome Variant Server MAP2K3_000050 86/13006 2/8600 84/4406 - - - - - - -
?/? c.568+27C>T r.(=) p.(=) g.21206573C>T Copied from the Exome Variant Server MAP2K3_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.568+43A>G r.(=) p.(=) g.21206589A>G Copied from the Exome Variant Server MAP2K3_000052 51/13002 1/8596 50/4406 - - - - - - -
?/? c.569-52T>A r.(=) p.(=) g.21207686T>A Copied from the Exome Variant Server MAP2K3_000053 1/5734 0/3982 1/1752 - - - - - - -
?/? c.569-42C>A r.(=) p.(=) g.21207696C>A Copied from the Exome Variant Server MAP2K3_000054 6/13006 0/8600 6/4406 - - - - - - -
?/? c.569-41G>A r.(=) p.(=) g.21207697G>A Copied from the Exome Variant Server MAP2K3_000055 183/13006 165/8600 18/4406 - - - - - - -
?/? c.569-39G>A r.(=) p.(=) g.21207699G>A Copied from the Exome Variant Server MAP2K3_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? c.569-28G>A r.(=) p.(=) g.21207710G>A Copied from the Exome Variant Server MAP2K3_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.610G>A r.(?) p.(Val204Met) g.21207779G>A Copied from the Exome Variant Server MAP2K3_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.623A>T r.(?) p.(Asp208Val) g.21207792A>T Copied from the Exome Variant Server MAP2K3_000059 7/13006 7/8600 0/4406 - - - - - - -
?/? c.627T>C r.(=) p.(=) g.21207796T>C Copied from the Exome Variant Server MAP2K3_000060 18/13006 0/8600 18/4406 - - - - - - -
?/? c.629G>T r.(?) p.(Gly210Val) g.21207798G>T Copied from the Exome Variant Server MAP2K3_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.21207829C>T Copied from the Exome Variant Server MAP2K3_000062 83/13006 3/8600 80/4406 - - - - - - -
?/? c.669G>C r.(?) p.(Met223Ile) g.21207838G>C Copied from the Exome Variant Server MAP2K3_000063 7/13006 6/8600 1/4406 - - - - - - -
?/? c.676G>A r.(?) p.(Gly226Ser) g.21207845G>A Copied from the Exome Variant Server MAP2K3_000064 3/13006 0/8600 3/4406 - - - - - - -
?/? c.696+33G>C r.(=) p.(=) g.21207898G>C Copied from the Exome Variant Server MAP2K3_000065 57/13006 1/8600 56/4406 - - - - - - -
?/? c.696+43C>T r.(=) p.(=) g.21207908C>T Copied from the Exome Variant Server MAP2K3_000066 3/13006 3/8600 0/4406 - - - - - - -
?/? c.696+51A>G r.(=) p.(=) g.21207916A>G Copied from the Exome Variant Server MAP2K3_000067 9230/13006 5602/8600 3628/4406 - - - - - - -
?/? c.697-33C>T r.(=) p.(=) g.21208330C>T Copied from the Exome Variant Server MAP2K3_000068 8/13006 0/8600 8/4406 - - - - - - -
?/? c.697-32G>A r.(=) p.(=) g.21208331G>A Copied from the Exome Variant Server MAP2K3_000069 3069/13006 1544/8600 1525/4406 - - - - - - -
?/? c.697-22G>A r.(=) p.(=) g.21208341G>A Copied from the Exome Variant Server MAP2K3_000070 6/13006 2/8600 4/4406 - - - - - - -
?/? c.751G>A r.(?) p.(Val251Ile) g.21208417G>A Copied from the Exome Variant Server MAP2K3_000071 13/13006 12/8600 1/4406 - - - - - - -
?/? c.774+49G>C r.(=) p.(=) g.21208489G>C Copied from the Exome Variant Server MAP2K3_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.775-30G>A r.(=) p.(=) g.21215424G>A Copied from the Exome Variant Server MAP2K3_000073 4923/13006 2925/8600 1998/4406 - - - - - - -
?/? c.775-20_775-19insC r.(=) p.(=) g.21215434_21215435insC Copied from the Exome Variant Server MAP2K3_000075 6151/12518 4030/8254 2121/4264 - - - - - - -
?/? c.775-20_775-19insT r.(=) p.(=) g.21215434_21215435insT Copied from the Exome Variant Server MAP2K3_000074 107/12518 97/8254 10/4264 - - - - - - -
?/? c.775-7G>A r.(=) p.(=) g.21215447G>A Copied from the Exome Variant Server MAP2K3_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.775-6C>T r.(=) p.(=) g.21215448C>T Copied from the Exome Variant Server MAP2K3_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.808T>G r.(?) p.(Ser270Ala) g.21215487T>G Copied from the Exome Variant Server MAP2K3_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.819C>G r.(=) p.(=) g.21215498C>G Copied from the Exome Variant Server MAP2K3_000079 31/13006 29/8600 2/4406 - - - - - - -
?/? c.850G>C r.(?) p.(Glu284Gln) g.21215529G>C Copied from the Exome Variant Server MAP2K3_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.854C>T r.(?) p.(Pro285Leu) g.21215533C>T Copied from the Exome Variant Server MAP2K3_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.855G>A r.(=) p.(=) g.21215534G>A Copied from the Exome Variant Server MAP2K3_000082 3/13006 2/8600 1/4406 - - - - - - -
?/? c.886C>T r.(?) p.(Pro296Ser) g.21215565C>T Copied from the Exome Variant Server MAP2K3_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.914+23C>T r.(=) p.(=) g.21215616C>T Copied from the Exome Variant Server MAP2K3_000084 4/13006 4/8600 0/4406 - - - - - - -
?/? c.928C>T r.(?) p.(Pro310Ser) g.21216817C>T Copied from the Exome Variant Server MAP2K3_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.931G>A r.(?) p.(Ala311Thr) g.21216820G>A Copied from the Exome Variant Server MAP2K3_000086 12/13006 12/8600 0/4406 - - - - - - -
?/? c.938G>A r.(?) p.(Arg313His) g.21216827G>A Copied from the Exome Variant Server MAP2K3_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.960+3G>C r.spl? p.? g.21216852G>C Copied from the Exome Variant Server MAP2K3_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.960+13G>A r.(=) p.(=) g.21216862G>A Copied from the Exome Variant Server MAP2K3_000089 44/13006 42/8600 2/4406 - - - - - - -
?/? c.961-35C>T r.(=) p.(=) g.21217424C>T Copied from the Exome Variant Server MAP2K3_000090 10/13006 0/8600 10/4406 - - - - - - -
?/? c.961-22C>G r.(=) p.(=) g.21217437C>G Copied from the Exome Variant Server MAP2K3_000091 2/13006 0/8600 2/4406 - - - - - - -
?/? c.978C>A r.(=) p.(=) g.21217476C>A Copied from the Exome Variant Server MAP2K3_000092 145/13006 7/8600 138/4406 - - - - - - -
?/? c.983A>G r.(?) p.(His328Arg) g.21217481A>G Copied from the Exome Variant Server MAP2K3_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.998C>T r.(?) p.(Thr333Met) g.21217496C>T Copied from the Exome Variant Server MAP2K3_000094 2/13006 0/8600 2/4406 - - - - - - -
?/? c.999G>A r.(=) p.(=) g.21217497G>A Copied from the Exome Variant Server MAP2K3_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1010C>T r.(?) p.(Ala337Val) g.21217508C>T Copied from the Exome Variant Server MAP2K3_000096 1/13006 1/8600 0/4406 - - - - - - -
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