Full data view for gene FAM50A

Information The variants shown are described using the NM_004699.3 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.-33del r.(=) p.(=) g.153672550del Copied from the Exome Variant Server FAM50A_000080 89/871 61/692 28/179 - - - - - - -
?/? c.111+46del r.(=) p.(=) g.153672739del Copied from the Exome Variant Server FAM50A_000081 102/8932 94/5665 8/3267 - - - - - - -
?/? c.112-36A>G r.(=) p.(=) g.153673945A>G Copied from the Exome Variant Server FAM50A_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.112-24C>T r.(=) p.(=) g.153673957C>T Copied from the Exome Variant Server FAM50A_000074 2/10563 1/6728 1/3835 - - - - - - -
?/? c.112-7C>T r.(=) p.(=) g.153673974C>T Copied from the Exome Variant Server FAM50A_000075 607/10562 1/6727 606/3835 - - - - - - -
?/? c.112-4G>A r.spl? p.? g.153673977G>A Copied from the Exome Variant Server FAM50A_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.131A>G r.(?) p.(Asn44Ser) g.153674000A>G Copied from the Exome Variant Server FAM50A_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.153674031C>T Copied from the Exome Variant Server FAM50A_000078 3/10563 3/6728 0/3835 - - - - - - -
?/? c.192C>T r.(=) p.(=) g.153674061C>T Copied from the Exome Variant Server FAM50A_000079 2/10563 0/6728 2/3835 - - - - - - -
?/? c.196+13C>T r.(=) p.(=) g.153674078C>T Copied from the Exome Variant Server FAM50A_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.197-47C>T r.(=) p.(=) g.153674113C>T Copied from the Exome Variant Server FAM50A_000051 1/10562 0/6727 1/3835 - - - - - - -
?/? c.197-46G>A r.(=) p.(=) g.153674114G>A Copied from the Exome Variant Server FAM50A_000052 995/10562 3/6727 992/3835 - - - - - - -
?/? c.197-29C>G r.(=) p.(=) g.153674131C>G Copied from the Exome Variant Server FAM50A_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.197-23C>G r.(=) p.(=) g.153674137C>G Copied from the Exome Variant Server FAM50A_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.258G>A r.(=) p.(=) g.153674221G>A Copied from the Exome Variant Server FAM50A_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.296+12C>T r.(=) p.(=) g.153674271C>T Copied from the Exome Variant Server FAM50A_000027 20/10558 19/6725 1/3833 - - - - - - -
?/? c.297-44C>T r.(=) p.(=) g.153674719C>T Copied from the Exome Variant Server FAM50A_000028 3/10563 0/6728 3/3835 - - - - - - -
?/? c.297-43G>A r.(=) p.(=) g.153674720G>A Copied from the Exome Variant Server FAM50A_000029 2/10563 0/6728 2/3835 - - - - - - -
?/? c.297-22del r.(=) p.(=) g.153674741del Copied from the Exome Variant Server FAM50A_000030 17/10205 8/6484 9/3721 - - - - - - -
?/? c.297-4C>A r.spl? p.? g.153674759C>A Copied from the Exome Variant Server FAM50A_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.314G>A r.(?) p.(Arg105Gln) g.153674780G>A Copied from the Exome Variant Server FAM50A_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.410C>T r.(?) p.(Ala137Val) g.153674876C>T Copied from the Exome Variant Server FAM50A_000033 55/10559 48/6726 7/3833 - - - - - - -
?/? c.431T>C r.(?) p.(Met144Thr) g.153674897T>C Copied from the Exome Variant Server FAM50A_000034 1/10544 0/6718 1/3826 - - - - - - -
?/? c.443-18G>T r.(=) p.(=) g.153676814G>T Copied from the Exome Variant Server FAM50A_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.443-13C>T r.(=) p.(=) g.153676819C>T Copied from the Exome Variant Server FAM50A_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.452C>T r.(?) p.(Thr151Met) g.153676841C>T Copied from the Exome Variant Server FAM50A_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.453G>A r.(=) p.(=) g.153676842G>A Copied from the Exome Variant Server FAM50A_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.470G>C r.(?) p.(Gly157Ala) g.153676859G>C Copied from the Exome Variant Server FAM50A_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.509G>A r.(?) p.(Arg170Gln) g.153676898G>A Copied from the Exome Variant Server FAM50A_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.519+27G>A r.(=) p.(=) g.153676935G>A Copied from the Exome Variant Server FAM50A_000041 94/10563 79/6728 15/3835 - - - - - - -
?/? c.519+31C>T r.(=) p.(=) g.153676939C>T Copied from the Exome Variant Server FAM50A_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.519+32G>A r.(=) p.(=) g.153676940G>A Copied from the Exome Variant Server FAM50A_000043 11/10563 0/6728 11/3835 - - - - - - -
?/? c.519+47G>A r.(=) p.(=) g.153676955G>A Copied from the Exome Variant Server FAM50A_000044 4/10563 4/6728 0/3835 - - - - - - -
?/? c.559T>C r.(?) p.(Trp187Arg) g.153677077T>C Copied from the Exome Variant Server FAM50A_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.581T>A r.(?) p.(Ile194Asn) g.153677099T>A Copied from the Exome Variant Server FAM50A_000046 1/10562 0/6728 1/3834 - - - - - - -
?/? c.586+12C>T r.(=) p.(=) g.153677116C>T Copied from the Exome Variant Server FAM50A_000047 2/10563 2/6728 0/3835 - - - - - - -
?/? c.586+24C>T r.(=) p.(=) g.153677128C>T Copied from the Exome Variant Server FAM50A_000048 2/10563 0/6728 2/3835 - - - - - - -
?/? c.586+25G>A r.(=) p.(=) g.153677129G>A Copied from the Exome Variant Server FAM50A_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.586+50C>G r.(=) p.(=) g.153677154C>G Copied from the Exome Variant Server FAM50A_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587-61C>T r.(=) p.(=) g.153677180C>T Copied from the Exome Variant Server FAM50A_000002 1/3600 0/2391 1/1209 - - - - - - -
?/? c.587-39C>T r.(=) p.(=) g.153677202C>T Copied from the Exome Variant Server FAM50A_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.587-16C>T r.(=) p.(=) g.153677225C>T Copied from the Exome Variant Server FAM50A_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.597C>T r.(=) p.(=) g.153677251C>T Copied from the Exome Variant Server FAM50A_000005 2/10563 1/6728 1/3835 - - - - - - -
?/? c.638G>A r.(?) p.(Arg213Gln) g.153677292G>A Copied from the Exome Variant Server FAM50A_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.648+41A>G r.(=) p.(=) g.153677343A>G Copied from the Exome Variant Server FAM50A_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.649-37C>T r.(=) p.(=) g.153677532C>T Copied from the Exome Variant Server FAM50A_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.649-25C>T r.(=) p.(=) g.153677544C>T Copied from the Exome Variant Server FAM50A_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.649-9C>T r.(=) p.(=) g.153677560C>T Copied from the Exome Variant Server FAM50A_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.649-8G>T r.(=) p.(=) g.153677561G>T Copied from the Exome Variant Server FAM50A_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.693C>T r.(=) p.(=) g.153677613C>T Copied from the Exome Variant Server FAM50A_000012 2/10563 2/6728 0/3835 - - - - - - -
?/? c.725+12G>A r.(=) p.(=) g.153677657G>A Copied from the Exome Variant Server FAM50A_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.725+31T>C r.(=) p.(=) g.153677676T>C Copied from the Exome Variant Server FAM50A_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.725+41C>T r.(=) p.(=) g.153677686C>T Copied from the Exome Variant Server FAM50A_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.725+55T>C r.(=) p.(=) g.153677700T>C Copied from the Exome Variant Server FAM50A_000016 1019/3600 254/2391 765/1209 - - - - - - -
?/? c.726-48G>T r.(=) p.(=) g.153677981G>T Copied from the Exome Variant Server FAM50A_000017 1/10557 0/6723 1/3834 - - - - - - -
?/? c.726-40G>T r.(=) p.(=) g.153677989G>T Copied from the Exome Variant Server FAM50A_000018 1/10561 1/6726 0/3835 - - - - - - -
?/? c.726-21C>G r.(=) p.(=) g.153678008C>G Copied from the Exome Variant Server FAM50A_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.730G>A r.(?) p.(Ala244Thr) g.153678033G>A Copied from the Exome Variant Server FAM50A_000020 2/10563 0/6728 2/3835 - - - - - - -
?/? c.780+25C>T r.(=) p.(=) g.153678108C>T Copied from the Exome Variant Server FAM50A_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.781-50G>A r.(=) p.(=) g.153678181G>A Copied from the Exome Variant Server FAM50A_000022 2/10563 2/6728 0/3835 - - - - - - -
?/? c.781-45C>T r.(=) p.(=) g.153678186C>T Copied from the Exome Variant Server FAM50A_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.781-27C>T r.(=) p.(=) g.153678204C>T Copied from the Exome Variant Server FAM50A_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.781-24C>T r.(=) p.(=) g.153678207C>T Copied from the Exome Variant Server FAM50A_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.781-13C>G r.(=) p.(=) g.153678218C>G Copied from the Exome Variant Server FAM50A_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.781-11T>A r.(=) p.(=) g.153678220T>A Copied from the Exome Variant Server FAM50A_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.153678245C>T Copied from the Exome Variant Server FAM50A_000057 2/10563 2/6728 0/3835 - - - - - - -
?/? c.804C>T r.(=) p.(=) g.153678254C>T Copied from the Exome Variant Server FAM50A_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.829+40C>T r.(=) p.(=) g.153678319C>T Copied from the Exome Variant Server FAM50A_000059 3/10563 1/6728 2/3835 - - - - - - -
?/? c.830-46C>T r.(=) p.(=) g.153678331C>T Copied from the Exome Variant Server FAM50A_000060 8/10563 8/6728 0/3835 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.153678426C>T Copied from the Exome Variant Server FAM50A_000061 25/10563 25/6728 0/3835 - - - - - - -
?/? c.900+17C>T r.(=) p.(=) g.153678464C>T Copied from the Exome Variant Server FAM50A_000062 2/10563 2/6728 0/3835 - - - - - - -
?/? c.900+31C>T r.(=) p.(=) g.153678478C>T Copied from the Exome Variant Server FAM50A_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.900+32G>A r.(=) p.(=) g.153678479G>A Copied from the Exome Variant Server FAM50A_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.900+37T>C r.(=) p.(=) g.153678484T>C Copied from the Exome Variant Server FAM50A_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.901-26G>A r.(=) p.(=) g.153678531G>A Copied from the Exome Variant Server FAM50A_000066 49/10563 1/6728 48/3835 - - - - - - -
?/? c.1011+39C>T r.(=) p.(=) g.153678706C>T Copied from the Exome Variant Server FAM50A_000067 2739/10563 737/6728 2002/3835 - - - - - - -
?/? c.1012-19C>T r.(=) p.(=) g.153678753C>T Copied from the Exome Variant Server FAM50A_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*16C>T r.(=) p.(=) g.153678796C>T Copied from the Exome Variant Server FAM50A_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*32C>T r.(=) p.(=) g.153678812C>T Copied from the Exome Variant Server FAM50A_000070 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*37C>G r.(=) p.(=) g.153678817C>G Copied from the Exome Variant Server FAM50A_000071 1/10562 1/6728 0/3834 - - - - - - -
?/? c.*51C>T r.(=) p.(=) g.153678831C>T Copied from the Exome Variant Server FAM50A_000072 1/10559 0/6728 1/3831 - - - - - - -
?/? c.*72G>C r.(=) p.(=) g.153678852G>C Copied from the Exome Variant Server FAM50A_000073 59/3600 58/2391 1/1209 - - - - - - -
Legend