Full data view for gene FAM120C

Information The variants shown are described using the NM_017848.4 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.111_113del r.(?) p.(Gln37del) g.54209519_54209521del Copied from the Exome Variant Server FAM120C_000072 131/6715 81/4174 50/2541 - - - - - - -
?/? c.131C>A r.(?) p.(Pro44Gln) g.54209501G>T Copied from the Exome Variant Server FAM120C_000071 42/8052 2/5077 40/2975 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.54209380G>A Copied from the Exome Variant Server FAM120C_000070 1/8599 0/5351 1/3248 - - - - - - -
?/? c.326_327insGCCGCC r.(?) p.(Pro110_Pro111dup) g.54209305_54209306insGGCGGC Copied from the Exome Variant Server FAM120C_000069 284/5560 267/3455 17/2105 - - - - - - -
?/? c.327_329del r.(?) p.(Pro111del) g.54209303_54209305del Copied from the Exome Variant Server FAM120C_000068 78/5560 51/3455 27/2105 - - - - - - -
?/? c.426A>G r.(=) p.(=) g.54209206T>C Copied from the Exome Variant Server FAM120C_000067 1/10154 0/6467 1/3687 - - - - - - -
?/? c.498G>A r.(=) p.(=) g.54209134C>T Copied from the Exome Variant Server FAM120C_000066 1/10450 1/6657 0/3793 - - - - - - -
?/? c.551G>T r.(?) p.(Gly184Val) g.54209081C>A Copied from the Exome Variant Server FAM120C_000064 2/10400 0/6626 2/3774 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.54209065G>A Copied from the Exome Variant Server FAM120C_000062 1/10479 1/6688 0/3791 - - - - - - -
?/? c.609C>A r.(?) p.(Asn203Lys) g.54209023G>T Copied from the Exome Variant Server FAM120C_000060 1/10544 0/6714 1/3830 - - - - - - -
?/? c.700-34C>G r.(=) p.(=) g.54186083G>C Copied from the Exome Variant Server FAM120C_000065 1/10561 1/6727 0/3834 - - - - - - -
?/? c.903G>A r.(=) p.(=) g.54185846C>T Copied from the Exome Variant Server FAM120C_000063 7/10563 0/6728 7/3835 - - - - - - -
?/? c.919A>T r.(?) p.(Asn307Tyr) g.54185830T>A Copied from the Exome Variant Server FAM120C_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.946+29G>C r.(=) p.(=) g.54185774C>G Copied from the Exome Variant Server FAM120C_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.947-30C>G r.(=) p.(=) g.54184234G>C Copied from the Exome Variant Server FAM120C_000058 3/10561 2/6726 1/3835 - - - - - - -
?/? c.1030-42C>T r.(=) p.(=) g.54177848G>A Copied from the Exome Variant Server FAM120C_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1062T>C r.(=) p.(=) g.54177774A>G Copied from the Exome Variant Server FAM120C_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1065C>T r.(=) p.(=) g.54177771G>A Copied from the Exome Variant Server FAM120C_000055 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1075A>C r.(?) p.(Lys359Gln) g.54177761T>G Copied from the Exome Variant Server FAM120C_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1113C>T r.(=) p.(=) g.54177723G>A Copied from the Exome Variant Server FAM120C_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1158+27G>C r.(=) p.(=) g.54177651C>G Copied from the Exome Variant Server FAM120C_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1159-47_1159-46insA r.(=) p.(=) g.54163069_54163070insT Copied from the Exome Variant Server FAM120C_000051 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1159-25G>A r.(=) p.(=) g.54163048C>T Copied from the Exome Variant Server FAM120C_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1258+14C>G r.(=) p.(=) g.54162910G>C Copied from the Exome Variant Server FAM120C_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1258+19C>G r.(=) p.(=) g.54162905G>C Copied from the Exome Variant Server FAM120C_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1259-51T>C r.(=) p.(=) g.54162088A>G Copied from the Exome Variant Server FAM120C_000047 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1320T>C r.(=) p.(=) g.54161976A>G Copied from the Exome Variant Server FAM120C_000046 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1329G>A r.(=) p.(=) g.54161967C>T Copied from the Exome Variant Server FAM120C_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1336-6G>A r.(=) p.(=) g.54161550C>T Copied from the Exome Variant Server FAM120C_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1390C>A r.(?) p.(Pro464Thr) g.54161490G>T Copied from the Exome Variant Server FAM120C_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1463A>G r.(?) p.(Gln488Arg) g.54161417T>C Copied from the Exome Variant Server FAM120C_000042 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1616+28A>G r.(=) p.(=) g.54161236T>C Copied from the Exome Variant Server FAM120C_000041 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1616+46C>G r.(=) p.(=) g.54161218G>C Copied from the Exome Variant Server FAM120C_000040 1/10558 0/6724 1/3834 - - - - - - -
?/? c.1617-38C>A r.(=) p.(=) g.54160517G>T Copied from the Exome Variant Server FAM120C_000039 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1667G>A r.(?) p.(Arg556His) g.54160429C>T Copied from the Exome Variant Server FAM120C_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1890+22T>C r.(=) p.(=) g.54160184A>G Copied from the Exome Variant Server FAM120C_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1891-48C>T r.(=) p.(=) g.54159344G>A Copied from the Exome Variant Server FAM120C_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1891-29T>C r.(=) p.(=) g.54159325A>G Copied from the Exome Variant Server FAM120C_000035 24/10563 22/6728 2/3835 - - - - - - -
?/? c.1912T>A r.(?) p.(Cys638Ser) g.54159275A>T Copied from the Exome Variant Server FAM120C_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1983A>G r.(=) p.(=) g.54159204T>C Copied from the Exome Variant Server FAM120C_000033 16/10563 15/6728 1/3835 - - - - - - -
?/? c.2030G>A r.(?) p.(Arg677His) g.54159157C>T Copied from the Exome Variant Server FAM120C_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2136A>C r.(=) p.(=) g.54143154T>G Copied from the Exome Variant Server FAM120C_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2244G>A r.(=) p.(=) g.54143046C>T Copied from the Exome Variant Server FAM120C_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2313-43A>G r.(=) p.(=) g.54117902T>C Copied from the Exome Variant Server FAM120C_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2313-15G>A r.(=) p.(=) g.54117874C>T Copied from the Exome Variant Server FAM120C_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2418A>G r.(=) p.(=) g.54117754T>C Copied from the Exome Variant Server FAM120C_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2427+5G>T r.spl? p.? g.54117740C>A Copied from the Exome Variant Server FAM120C_000026 10516/10563 6727/6728 3789/3835 - - - - - - -
?/? c.2427+32del r.(=) p.(=) g.54117713del Copied from the Exome Variant Server FAM120C_000025 1/10204 1/6483 0/3721 - - - - - - -
?/? c.2427+37A>G r.(=) p.(=) g.54117708T>C Copied from the Exome Variant Server FAM120C_000024 6/10562 0/6727 6/3835 - - - - - - -
?/? c.2537A>G r.(?) p.(His846Arg) g.54114288T>C Copied from the Exome Variant Server FAM120C_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2600G>A r.(?) p.(Arg867Gln) g.54114225C>T Copied from the Exome Variant Server FAM120C_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2631T>C r.(=) p.(=) g.54114194A>G Copied from the Exome Variant Server FAM120C_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2637+38C>A r.(=) p.(=) g.54114150G>T Copied from the Exome Variant Server FAM120C_000020 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2638-24A>G r.(=) p.(=) g.54112373T>C Copied from the Exome Variant Server FAM120C_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2727G>A r.(=) p.(=) g.54112260C>T Copied from the Exome Variant Server FAM120C_000018 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2757C>T r.(=) p.(=) g.54112230G>A Copied from the Exome Variant Server FAM120C_000017 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2791A>G r.(?) p.(Met931Val) g.54112196T>C Copied from the Exome Variant Server FAM120C_000016 29/10563 2/6728 27/3835 - - - - - - -
?/? c.2802G>A r.(?) p.(Met934Ile) g.54112185C>T Copied from the Exome Variant Server FAM120C_000015 162/10563 148/6728 14/3835 - - - - - - -
?/? c.2840-50C>T r.(=) p.(=) g.54107943G>A Copied from the Exome Variant Server FAM120C_000014 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2934A>T r.(=) p.(=) g.54107799T>A Copied from the Exome Variant Server FAM120C_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2978+4T>C r.spl? p.? g.54107751A>G Copied from the Exome Variant Server FAM120C_000012 3/10563 2/6728 1/3835 - - - - - - -
?/? c.2978+48C>A r.(=) p.(=) g.54107707G>T Copied from the Exome Variant Server FAM120C_000011 55/10563 0/6728 55/3835 - - - - - - -
?/? c.3036+15_3036+16insT r.(=) p.(=) g.54106649_54106650insA Copied from the Exome Variant Server FAM120C_000010 1/10203 0/6484 1/3719 - - - - - - -
?/? c.3036+47G>A r.(=) p.(=) g.54106618C>T Copied from the Exome Variant Server FAM120C_000009 401/10561 1/6728 400/3833 - - - - - - -
?/? c.3037-24A>G r.(=) p.(=) g.54099744T>C Copied from the Exome Variant Server FAM120C_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3069G>A r.(=) p.(=) g.54099688C>T Copied from the Exome Variant Server FAM120C_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3075T>C r.(=) p.(=) g.54099682A>G Copied from the Exome Variant Server FAM120C_000006 11/10563 0/6728 11/3835 - - - - - - -
?/? c.3080G>A r.(?) p.(Gly1027Asp) g.54099677C>T Copied from the Exome Variant Server FAM120C_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3082C>T r.(?) p.(Arg1028Trp) g.54099675G>A Copied from the Exome Variant Server FAM120C_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3096G>C r.(?) p.(Gln1032His) g.54099661C>G Copied from the Exome Variant Server FAM120C_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.3129A>G r.(=) p.(=) g.54099628T>C Copied from the Exome Variant Server FAM120C_000002 3/10563 2/6728 1/3835 - - - - - - -
?/? c.3177C>A r.(=) p.(=) g.54099580G>T Copied from the Exome Variant Server FAM120C_000001 4/10563 0/6728 4/3835 - - - - - - -
Legend