Unique variants in gene FAM122B

Information The variants shown are described using the NM_145284.5 transcript reference sequence.

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

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-40G>T r.(=) p.(=) g.133930275C>A Copied from the Exome Variant Server FAM122B_000041 8/10563 0/6728 8/3835
1 c.-29_-26del r.(=) p.(=) g.133930261_133930264del Copied from the Exome Variant Server FAM122B_000040 1/10205 1/6484 0/3721
1 c.-25C>T r.(=) p.(=) g.133930260G>A Copied from the Exome Variant Server FAM122B_000039 1/10563 1/6728 0/3835
1 c.69C>T r.(=) p.(=) g.133930167G>A Copied from the Exome Variant Server FAM122B_000038 2/10563 2/6728 0/3835
1 c.84A>G r.(=) p.(=) g.133930152T>C Copied from the Exome Variant Server FAM122B_000037 56/10563 52/6728 4/3835
1 c.88C>T r.(?) p.(His30Tyr) g.133930148G>A Copied from the Exome Variant Server FAM122B_000035 4/10563 1/6728 3/3835
1 c.98+3G>A r.spl? p.? g.133930135C>T Copied from the Exome Variant Server FAM122B_000033 4/10563 1/6728 3/3835
1 c.98+50C>T r.(=) p.(=) g.133930088G>A Copied from the Exome Variant Server FAM122B_000031 12/10563 0/6728 12/3835
1 c.99-27_99-26insTT r.(=) p.(=) g.133927949_133927950insAA Copied from the Exome Variant Server FAM122B_000029 6/10197 2/6482 4/3715
1 c.99-26del r.(=) p.(=) g.133927949del Copied from the Exome Variant Server FAM122B_000027 11/10197 11/6482 0/3715
1 c.99-26dup r.(=) p.(=) g.133927949dup Copied from the Exome Variant Server FAM122B_000025 483/10197 276/6482 207/3715
1 c.178-349C>T r.(=) p.(=) g.133923645G>A Copied from the Exome Variant Server FAM122B_000023 4/3600 4/2391 0/1209
1 c.178-18A>G r.(=) p.(=) g.133923314T>C Copied from the Exome Variant Server FAM122B_000021 1/10563 1/6728 0/3835
1 c.221+18G>A r.(=) p.(=) g.133923235C>T Copied from the Exome Variant Server FAM122B_000019 1/10563 1/6728 0/3835
1 c.221+33A>G r.(=) p.(=) g.133923220T>C Copied from the Exome Variant Server FAM122B_000017 2/10563 2/6728 0/3835
1 c.252A>G r.(=) p.(=) g.133923139T>C Copied from the Exome Variant Server FAM122B_000016 202/10563 185/6728 17/3835
1 c.255A>G r.(=) p.(=) g.133923136T>C Copied from the Exome Variant Server FAM122B_000036 13/10563 12/6728 1/3835
1 c.276+15T>C r.(=) p.(=) g.133923100A>G Copied from the Exome Variant Server FAM122B_000034 2/10563 0/6728 2/3835
1 c.276+46_276+47del r.(=) p.(=) g.133923068_133923069del Copied from the Exome Variant Server FAM122B_000032 9/10205 9/6484 0/3721
1 c.277-24G>A r.(=) p.(=) g.133922885C>T Copied from the Exome Variant Server FAM122B_000030 1/10562 1/6727 0/3835
1 c.333C>A r.(?) p.(Phe111Leu) g.133922805G>T Copied from the Exome Variant Server FAM122B_000028 1/10563 1/6728 0/3835
1 c.339A>G r.(=) p.(=) g.133922799T>C Copied from the Exome Variant Server FAM122B_000026 2/10563 0/6728 2/3835
1 c.378+3A>G r.spl? p.? g.133922757T>C Copied from the Exome Variant Server FAM122B_000024 1/10563 1/6728 0/3835
1 c.378+18A>G r.(=) p.(=) g.133922742T>C Copied from the Exome Variant Server FAM122B_000022 1/10563 1/6728 0/3835
1 c.379-22A>G r.(=) p.(=) g.133921585T>C Copied from the Exome Variant Server FAM122B_000020 6/10563 4/6728 2/3835
1 c.379-6T>C r.(=) p.(=) g.133921569A>G Copied from the Exome Variant Server FAM122B_000018 1/10563 1/6728 0/3835
1 c.416T>A r.(?) p.(Val139Asp) g.133921526A>T Copied from the Exome Variant Server FAM122B_000015 1/10563 1/6728 0/3835
1 c.440+31A>T r.(=) p.(=) g.133921471T>A Copied from the Exome Variant Server FAM122B_000014 193/10563 0/6728 193/3835
1 c.441-43C>T r.(=) p.(=) g.133920023G>A Copied from the Exome Variant Server FAM122B_000013 2/10563 1/6728 1/3835
1 c.441-28C>T r.(=) p.(=) g.133920008G>A Copied from the Exome Variant Server FAM122B_000012 55/10563 52/6728 3/3835
1 c.441-7A>G r.(=) p.(=) g.133919987T>C Copied from the Exome Variant Server FAM122B_000011 4/10563 0/6728 4/3835
1 c.506-34T>G r.(=) p.(=) g.133915981A>C Copied from the Exome Variant Server FAM122B_000010 1/10563 1/6728 0/3835
1 c.506-18C>T r.(=) p.(=) g.133915965G>A Copied from the Exome Variant Server FAM122B_000009 2/10563 0/6728 2/3835
1 c.578C>T r.(?) p.(Ala193Val) g.133915875G>A Copied from the Exome Variant Server FAM122B_000008 2/10563 2/6728 0/3835
1 c.579G>A r.(=) p.(=) g.133915874C>T Copied from the Exome Variant Server FAM122B_000007 5/10563 5/6728 0/3835
1 c.602+9_602+10insA r.(=) p.(=) g.133915841_133915842insT Copied from the Exome Variant Server FAM122B_000006 2/10205 2/6484 0/3721
1 c.603-39A>G r.(=) p.(=) g.133906352T>C Copied from the Exome Variant Server FAM122B_000005 2/10563 2/6728 0/3835
1 c.639C>G r.(=) p.(=) g.133906277G>C Copied from the Exome Variant Server FAM122B_000004 1/10563 1/6728 0/3835
1 c.653C>T r.(?) p.(Pro218Leu) g.133906263G>A Copied from the Exome Variant Server FAM122B_000003 1/10563 0/6728 1/3835
1 c.670G>A r.(?) p.(Ala224Thr) g.133906246C>T Copied from the Exome Variant Server FAM122B_000002 19/10563 0/6728 19/3835
1 c.697T>A r.(?) p.(Ser233Thr) g.133906219A>T Copied from the Exome Variant Server FAM122B_000001 1/10563 1/6728 0/3835
Legend