Unique variants in gene FAM149A

Information The variants shown are described using the NM_001006655.2 transcript reference sequence.

141 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-49C>T r.(=) p.(=) g.187073065C>T Copied from the Exome Variant Server FAM149A_000001 13/13006 4/8600 9/4406
1 c.-33T>C r.(=) p.(=) g.187073081T>C Copied from the Exome Variant Server FAM149A_000002 1/13006 1/8600 0/4406
1 c.-25G>A r.(=) p.(=) g.187073089G>A Copied from the Exome Variant Server FAM149A_000003 2/13006 2/8600 0/4406
1 c.-24C>T r.(=) p.(=) g.187073090C>T Copied from the Exome Variant Server FAM149A_000004 1/13006 0/8600 1/4406
1 c.-23G>A r.(=) p.(=) g.187073091G>A Copied from the Exome Variant Server FAM149A_000005 1/13006 1/8600 0/4406
1 c.16A>G r.(?) p.(Lys6Glu) g.187073129A>G Copied from the Exome Variant Server FAM149A_000006 1/13006 1/8600 0/4406
1 c.39T>G r.(?) p.(Ser13Arg) g.187073152T>G Copied from the Exome Variant Server FAM149A_000007 24/13006 0/8600 24/4406
1 c.42G>T r.(=) p.(=) g.187073155G>T Copied from the Exome Variant Server FAM149A_000008 1/13006 0/8600 1/4406
1 c.54C>G r.(?) p.(Cys18Trp) g.187073167C>G Copied from the Exome Variant Server FAM149A_000009 1/13006 0/8600 1/4406
1 c.57G>C r.(=) p.(=) g.187073170G>C Copied from the Exome Variant Server FAM149A_000010 1/13006 0/8600 1/4406
1 c.78C>T r.(=) p.(=) g.187073191C>T Copied from the Exome Variant Server FAM149A_000011 1/13006 0/8600 1/4406
1 c.86+40C>A r.(=) p.(=) g.187073239C>A Copied from the Exome Variant Server FAM149A_000012 1/13004 0/8598 1/4406
1 c.121A>G r.(?) p.(Lys41Glu) g.187074833A>G Copied from the Exome Variant Server FAM149A_000013 11522/13006 7542/8600 3980/4406
1 c.126C>T r.(=) p.(=) g.187074838C>T Copied from the Exome Variant Server FAM149A_000014 2/13006 1/8600 1/4406
1 c.152C>A r.(?) p.(Pro51His) g.187074864C>A Copied from the Exome Variant Server FAM149A_000015 2/13006 0/8600 2/4406
1 c.160G>A r.(?) p.(Ala54Thr) g.187074872G>A Copied from the Exome Variant Server FAM149A_000016 2/13006 0/8600 2/4406
1 c.212+5G>A r.spl? p.? g.187074929G>A Copied from the Exome Variant Server FAM149A_000017 4/13006 4/8600 0/4406
1 c.212+7T>C r.(=) p.(=) g.187074931T>C Copied from the Exome Variant Server FAM149A_000018 4/13006 0/8600 4/4406
1 c.213-50G>A r.(=) p.(=) g.187075572G>A Copied from the Exome Variant Server FAM149A_000019 1/13006 1/8600 0/4406
1 c.213-14del r.(=) p.(=) g.187075608del Copied from the Exome Variant Server FAM149A_000020 151/12520 137/8254 14/4266
1 c.213-8_213-7insC r.(=) p.(=) g.187075614_187075615insC Copied from the Exome Variant Server FAM149A_000021 56/12520 1/8254 55/4266
1 c.221T>C r.(?) p.(Ile74Thr) g.187075630T>C Copied from the Exome Variant Server FAM149A_000022 1/13006 0/8600 1/4406
1 c.224C>T r.(?) p.(Ser75Phe) g.187075633C>T Copied from the Exome Variant Server FAM149A_000023 13/13006 0/8600 13/4406
1 c.275C>T r.(?) p.(Pro92Leu) g.187075684C>T Copied from the Exome Variant Server FAM149A_000024 1/13006 1/8600 0/4406
1 c.292G>T r.(?) p.(Ala98Ser) g.187075701G>T Copied from the Exome Variant Server FAM149A_000025 8/13006 0/8600 8/4406
1 c.302C>T r.(?) p.(Thr101Met) g.187075711C>T Copied from the Exome Variant Server FAM149A_000026 1/13006 1/8600 0/4406
1 c.342T>C r.(=) p.(=) g.187075751T>C Copied from the Exome Variant Server FAM149A_000027 46/13006 44/8600 2/4406
1 c.363C>T r.(=) p.(=) g.187075772C>T Copied from the Exome Variant Server FAM149A_000028 1/13006 0/8600 1/4406
1 c.383+37T>C r.(=) p.(=) g.187075829T>C Copied from the Exome Variant Server FAM149A_000029 7/13006 7/8600 0/4406
1 c.384-22_384-21del r.(=) p.(=) g.187077132_187077133del Copied from the Exome Variant Server FAM149A_000030 1/12520 1/8254 0/4266
1 c.386A>T r.(?) p.(Asp129Val) g.187077156A>T Copied from the Exome Variant Server FAM149A_000031 1/13006 0/8600 1/4406
1 c.418C>A r.(?) p.(Pro140Thr) g.187077188C>A Copied from the Exome Variant Server FAM149A_000032 1/13006 1/8600 0/4406
1 c.421G>A r.(?) p.(Gly141Ser) g.187077191G>A Copied from the Exome Variant Server FAM149A_000033 1/13006 1/8600 0/4406
1 c.430T>A r.(?) p.(Trp144Arg) g.187077200T>A Copied from the Exome Variant Server FAM149A_000034 17/13006 0/8600 17/4406
1 c.433C>T r.(?) p.(Arg145Cys) g.187077203C>T Copied from the Exome Variant Server FAM149A_000035 11/13006 0/8600 11/4406
1 c.434G>A r.(?) p.(Arg145His) g.187077204G>A Copied from the Exome Variant Server FAM149A_000036 10/13006 0/8600 10/4406
1 c.435C>T r.(=) p.(=) g.187077205C>T Copied from the Exome Variant Server FAM149A_000037 3/13006 1/8600 2/4406
1 c.436A>G r.(?) p.(Lys146Glu) g.187077206A>G Copied from the Exome Variant Server FAM149A_000038 11710/13006 7556/8600 4154/4406
1 c.452C>T r.(?) p.(Pro151Leu) g.187077222C>T Copied from the Exome Variant Server FAM149A_000039 1/13006 0/8600 1/4406
1 c.461C>T r.(?) p.(Pro154Leu) g.187077231C>T Copied from the Exome Variant Server FAM149A_000040 2/13006 2/8600 0/4406
1 c.464G>A r.(?) p.(Arg155His) g.187077234G>A Copied from the Exome Variant Server FAM149A_000041 28/13006 26/8600 2/4406
1 c.483C>A r.(=) p.(=) g.187077253C>A Copied from the Exome Variant Server FAM149A_000042 4/13006 0/8600 4/4406
1 c.498G>A r.(=) p.(=) g.187077268G>A Copied from the Exome Variant Server FAM149A_000043 1/13006 1/8600 0/4406
1 c.508G>A r.(?) p.(Val170Ile) g.187077278G>A Copied from the Exome Variant Server FAM149A_000044 1/13006 0/8600 1/4406
1 c.521T>C r.(?) p.(Met174Thr) g.187077291T>C Copied from the Exome Variant Server FAM149A_000046 9/13006 1/8600 8/4406
1 c.574+11G>A r.(=) p.(=) g.187077355G>A Copied from the Exome Variant Server FAM149A_000048 1/13006 1/8600 0/4406
1 c.574+30A>G r.(=) p.(=) g.187077374A>G Copied from the Exome Variant Server FAM149A_000050 1/13006 0/8600 1/4406
1 c.574+36A>G r.(=) p.(=) g.187077380A>G Copied from the Exome Variant Server FAM149A_000052 1/13006 0/8600 1/4406
1 c.574+49T>C r.(=) p.(=) g.187077393T>C Copied from the Exome Variant Server FAM149A_000045 8876/13006 6305/8600 2571/4406
1 c.575-50T>C r.(=) p.(=) g.187078669T>C Copied from the Exome Variant Server FAM149A_000047 4/13006 0/8600 4/4406
1 c.584A>G r.(?) p.(Lys195Arg) g.187078728A>G Copied from the Exome Variant Server FAM149A_000049 1/13006 0/8600 1/4406
1 c.601A>G r.(?) p.(Lys201Glu) g.187078745A>G Copied from the Exome Variant Server FAM149A_000051 68/13006 62/8600 6/4406
1 c.605T>C r.(?) p.(Val202Ala) g.187078749T>C Copied from the Exome Variant Server FAM149A_000053 11/13006 10/8600 1/4406
1 c.615C>T r.(=) p.(=) g.187078759C>T Copied from the Exome Variant Server FAM149A_000054 5/13006 0/8600 5/4406
1 c.624G>A r.(=) p.(=) g.187078768G>A Copied from the Exome Variant Server FAM149A_000055 1/13006 0/8600 1/4406
1 c.627C>T r.(=) p.(=) g.187078771C>T Copied from the Exome Variant Server FAM149A_000056 1/13006 1/8600 0/4406
1 c.637C>A r.(?) p.(Pro213Thr) g.187078781C>A Copied from the Exome Variant Server FAM149A_000057 1/13006 1/8600 0/4406
1 c.641A>G r.(?) p.(His214Arg) g.187078785A>G Copied from the Exome Variant Server FAM149A_000058 11730/13006 7576/8600 4154/4406
1 c.646C>T r.(?) p.(His216Tyr) g.187078790C>T Copied from the Exome Variant Server FAM149A_000059 6/13006 5/8600 1/4406
1 c.652G>A r.(?) p.(Asp218Asn) g.187078796G>A Copied from the Exome Variant Server FAM149A_000060 1/13006 1/8600 0/4406
1 c.671C>A r.(?) p.(Pro224Gln) g.187078815C>A Copied from the Exome Variant Server FAM149A_000061 1/13006 0/8600 1/4406
1 c.672G>A r.(=) p.(=) g.187078816G>A Copied from the Exome Variant Server FAM149A_000062 1/13006 0/8600 1/4406
1 c.675C>G r.(=) p.(=) g.187078819C>G Copied from the Exome Variant Server FAM149A_000064 2066/13006 1231/8600 835/4406
1 c.676G>A r.(?) p.(Gly226Arg) g.187078820G>A Copied from the Exome Variant Server FAM149A_000066 1/13006 1/8600 0/4406
1 c.684C>T r.(=) p.(=) g.187078828C>T Copied from the Exome Variant Server FAM149A_000068 145/13006 1/8600 144/4406
1 c.709T>C r.(?) p.(Ser237Pro) g.187078853T>C Copied from the Exome Variant Server FAM149A_000070 1/13006 1/8600 0/4406
1 c.722C>T r.(?) p.(Pro241Leu) g.187078866C>T Copied from the Exome Variant Server FAM149A_000072 4071/13006 2214/8600 1857/4406
1 c.726C>T r.(=) p.(=) g.187078870C>T Copied from the Exome Variant Server FAM149A_000074 1/13006 1/8600 0/4406
1 c.729+3C>T r.spl? p.? g.187078876C>T Copied from the Exome Variant Server FAM149A_000076 27/13006 1/8600 26/4406
1 c.729+49G>C r.(=) p.(=) g.187078922G>C Copied from the Exome Variant Server FAM149A_000078 5655/13006 4134/8600 1521/4406
1 c.730-35del r.(=) p.(=) g.187083964del Copied from the Exome Variant Server FAM149A_000080 137/12032 63/8048 74/3984
1 c.730-11del r.(=) p.(=) g.187083988del Copied from the Exome Variant Server FAM149A_000082 33/12482 18/8236 15/4246
1 c.730-11_730-8del r.(=) p.(=) g.187083988_187083991del Copied from the Exome Variant Server FAM149A_000084 271/12482 176/8236 95/4246
1 c.754T>G r.(?) p.(Tyr252Asp) g.187084023T>G Copied from the Exome Variant Server FAM149A_000063 19/13006 17/8600 2/4406
1 c.803G>A r.(?) p.(Arg268Gln) g.187084072G>A Copied from the Exome Variant Server FAM149A_000065 1/13006 1/8600 0/4406
1 c.817T>C r.(?) p.(Phe273Leu) g.187084086T>C Copied from the Exome Variant Server FAM149A_000067 23/13006 0/8600 23/4406
1 c.830C>T r.(?) p.(Thr277Met) g.187084099C>T Copied from the Exome Variant Server FAM149A_000069 1/13006 0/8600 1/4406
1 c.831G>A r.(=) p.(=) g.187084100G>A Copied from the Exome Variant Server FAM149A_000071 1/13006 0/8600 1/4406
1 c.833+5G>A r.spl? p.? g.187084107G>A Copied from the Exome Variant Server FAM149A_000073 1/13006 0/8600 1/4406
1 c.834-10T>G r.(=) p.(=) g.187084568T>G Copied from the Exome Variant Server FAM149A_000075 1/13006 0/8600 1/4406
1 c.852A>G r.(=) p.(=) g.187084596A>G Copied from the Exome Variant Server FAM149A_000077 4/13006 0/8600 4/4406
1 c.855A>C r.(=) p.(=) g.187084599A>C Copied from the Exome Variant Server FAM149A_000079 1/13006 1/8600 0/4406
1 c.877C>T r.(?) p.(Leu293Phe) g.187084621C>T Copied from the Exome Variant Server FAM149A_000081 3/13006 0/8600 3/4406
1 c.879C>T r.(=) p.(=) g.187084623C>T Copied from the Exome Variant Server FAM149A_000083 1/13006 1/8600 0/4406
1 c.885C>T r.(=) p.(=) g.187084629C>T Copied from the Exome Variant Server FAM149A_000085 1/13006 0/8600 1/4406
1 c.886G>A r.(?) p.(Ala296Thr) g.187084630G>A Copied from the Exome Variant Server FAM149A_000086 1/13006 1/8600 0/4406
1 c.890C>T r.(?) p.(Pro297Leu) g.187084634C>T Copied from the Exome Variant Server FAM149A_000087 4/13006 2/8600 2/4406
1 c.905G>A r.(?) p.(Arg302Gln) g.187084649G>A Copied from the Exome Variant Server FAM149A_000088 3/13006 1/8600 2/4406
1 c.985T>C r.(?) p.(Ser329Pro) g.187084729T>C Copied from the Exome Variant Server FAM149A_000089 4/13006 3/8600 1/4406
1 c.993A>C r.(?) p.(Arg331Ser) g.187084737A>C Copied from the Exome Variant Server FAM149A_000090 4/13006 0/8600 4/4406
1 c.1007A>G r.(?) p.(Asn336Ser) g.187084751A>G Copied from the Exome Variant Server FAM149A_000091 111/13006 1/8600 110/4406
1 c.1009A>G r.(?) p.(Ile337Val) g.187084753A>G Copied from the Exome Variant Server FAM149A_000092 36/13006 0/8600 36/4406
1 c.1013A>G r.(?) p.(Tyr338Cys) g.187084757A>G Copied from the Exome Variant Server FAM149A_000093 1/13006 1/8600 0/4406
1 c.1021G>A r.(?) p.(Glu341Lys) g.187084765G>A Copied from the Exome Variant Server FAM149A_000094 111/13006 1/8600 110/4406
1 c.1030C>T r.(?) p.(Arg344Trp) g.187084774C>T Copied from the Exome Variant Server FAM149A_000095 2/13006 2/8600 0/4406
1 c.1043+23T>G r.(=) p.(=) g.187084810T>G Copied from the Exome Variant Server FAM149A_000096 2/13006 0/8600 2/4406
1 c.1043+34C>T r.(=) p.(=) g.187084821C>T Copied from the Exome Variant Server FAM149A_000097 107/13006 1/8600 106/4406
1 c.1043+37C>T r.(=) p.(=) g.187084824C>T Copied from the Exome Variant Server FAM149A_000098 7/13002 0/8598 7/4404
1 c.1044-30G>A r.(=) p.(=) g.187086468G>A Copied from the Exome Variant Server FAM149A_000099 317/13006 6/8600 311/4406
1 c.1044-14A>G r.(=) p.(=) g.187086484A>G Copied from the Exome Variant Server FAM149A_000100 4/13006 4/8600 0/4406
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