Unique variants in gene FAM205A

Information The variants shown are described using the NM_001141917.1 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-28T>C r.(=) p.(=) g.34729452A>G Copied from the Exome Variant Server FAM205A_000045 2754/4566 2093/3182 661/1384
1 c.-10A>G r.(=) p.(=) g.34729434T>C Copied from the Exome Variant Server FAM205A_000044 307/4566 43/3182 264/1384
1 c.33T>C r.(=) p.(=) g.34729392A>G Copied from the Exome Variant Server FAM205A_000043 461/4566 63/3182 398/1384
1 c.70G>A r.(?) p.(Val24Ile) g.34729355C>T Copied from the Exome Variant Server FAM205A_000042 2/4566 2/3182 0/1384
1 c.87G>T r.(?) p.(Trp29Cys) g.34729338C>A Copied from the Exome Variant Server FAM205A_000041 11/4566 11/3182 0/1384
1 c.144+28T>C r.(=) p.(=) g.34729253A>G Copied from the Exome Variant Server FAM205A_000040 83/4566 11/3182 72/1384
1 c.145-78_145-75del r.(=) p.(=) g.34728726_34728729del Copied from the Exome Variant Server FAM205A_000039 74/6542 5/4306 69/2236
1 c.146G>T r.(?) p.(Cys49Phe) g.34728650C>A Copied from the Exome Variant Server FAM205A_000038 1/4566 1/3182 0/1384
1 c.167G>A r.(?) p.(Arg56Lys) g.34728629C>T Copied from the Exome Variant Server FAM205A_000037 4/4566 4/3182 0/1384
1 c.190+20del r.(=) p.(=) g.34728586del Copied from the Exome Variant Server FAM205A_000035 1/7276 1/4682 0/2594
1 c.190+20T>C r.(=) p.(=) g.34728586A>G Copied from the Exome Variant Server FAM205A_000036 1/4566 1/3182 0/1384
1 c.191-40A>C r.(=) p.(=) g.34728119T>G Copied from the Exome Variant Server FAM205A_000034 10/4566 10/3182 0/1384
1 c.191-19C>T r.(=) p.(=) g.34728098G>A Copied from the Exome Variant Server FAM205A_000033 1/4566 1/3182 0/1384
1 c.205C>T r.(?) p.(Arg69Trp) g.34728065G>A Copied from the Exome Variant Server FAM205A_000031 233/4566 60/3182 173/1384
1 c.416T>G r.(?) p.(Leu139Arg) g.34726821A>C Copied from the Exome Variant Server FAM205A_000029 60/4566 53/3182 7/1384
1 c.456T>A r.(?) p.(Ser152Arg) g.34726781A>T Copied from the Exome Variant Server FAM205A_000027 6/4566 5/3182 1/1384
1 c.462G>A r.(=) p.(=) g.34726775C>T Copied from the Exome Variant Server FAM205A_000025 9/4566 9/3182 0/1384
1 c.490_491insT r.(?) p.(Ser164Phefs*37) g.34726746_34726747insA Copied from the Exome Variant Server FAM205A_000032 1/6972 1/4564 0/2408
1 c.502G>A r.(?) p.(Val168Ile) g.34726735C>T Copied from the Exome Variant Server FAM205A_000030 1/4566 0/3182 1/1384
1 c.617A>C r.(?) p.(Gln206Pro) g.34726620T>G Copied from the Exome Variant Server FAM205A_000028 6/4566 6/3182 0/1384
1 c.628G>A r.(?) p.(Val210Met) g.34726609C>T Copied from the Exome Variant Server FAM205A_000026 2/4566 0/3182 2/1384
1 c.691C>A r.(?) p.(Pro231Thr) g.34726546G>T Copied from the Exome Variant Server FAM205A_000024 1/4566 1/3182 0/1384
1 c.706_708del r.(?) p.(Glu236del) g.34726529_34726531del Copied from the Exome Variant Server FAM205A_000023 1/7274 1/4754 0/2520
1 c.713C>T r.(?) p.(Thr238Met) g.34726524G>A Copied from the Exome Variant Server FAM205A_000022 1091/4566 555/3182 536/1384
1 c.781C>T r.(=) p.(=) g.34726456G>A Copied from the Exome Variant Server FAM205A_000021 191/4566 1/3182 190/1384
1 c.2189C>T r.(?) p.(Pro730Leu) g.34725048G>A Copied from the Exome Variant Server FAM205A_000020 14/4566 12/3182 2/1384
1 c.2266_2267del r.(?) p.(Thr756*) g.34724970_34724971del Copied from the Exome Variant Server FAM205A_000019 6/7402 6/4772 0/2630
1 c.2441A>T r.(?) p.(Glu814Val) g.34724796T>A Copied from the Exome Variant Server FAM205A_000018 1703/4566 1527/3182 176/1384
1 c.2451C>T r.(=) p.(=) g.34724786G>A Copied from the Exome Variant Server FAM205A_000017 1694/4566 1526/3182 168/1384
1 c.2766G>A r.(=) p.(=) g.34724471C>T Copied from the Exome Variant Server FAM205A_000016 11/4566 0/3182 11/1384
1 c.2973G>A r.(=) p.(=) g.34724264C>T Copied from the Exome Variant Server FAM205A_000015 2/4566 2/3182 0/1384
1 c.2996G>T r.(?) p.(Ser999Ile) g.34724241C>A Copied from the Exome Variant Server FAM205A_000014 1712/4566 1541/3182 171/1384
1 c.3473C>T r.(?) p.(Ala1158Val) g.34723764G>A Copied from the Exome Variant Server FAM205A_000013 1/4566 1/3182 0/1384
1 c.3493G>T r.(?) p.(Ala1165Ser) g.34723744C>A Copied from the Exome Variant Server FAM205A_000012 1706/4566 1546/3182 160/1384
1 c.3807G>A r.(=) p.(=) g.34723430C>T Copied from the Exome Variant Server FAM205A_000011 2/4566 0/3182 2/1384
1 c.3849G>T r.(=) p.(=) g.34723388C>A Copied from the Exome Variant Server FAM205A_000010 1/4566 1/3182 0/1384
1 c.3895C>T r.(?) p.(Leu1299Phe) g.34723342G>A Copied from the Exome Variant Server FAM205A_000009 1/4566 1/3182 0/1384
1 c.3898C>T r.(?) p.(Arg1300Trp) g.34723339G>A Copied from the Exome Variant Server FAM205A_000008 23/4566 22/3182 1/1384
1 c.3899G>A r.(?) p.(Arg1300Gln) g.34723338C>T Copied from the Exome Variant Server FAM205A_000007 1/4566 0/3182 1/1384
1 c.3959G>A r.(?) p.(Arg1320His) g.34723278C>T Copied from the Exome Variant Server FAM205A_000006 24/4566 21/3182 3/1384
1 c.3971G>A r.(?) p.(Arg1324Gln) g.34723266C>T Copied from the Exome Variant Server FAM205A_000005 1/4566 1/3182 0/1384
1 c.3986A>C r.(?) p.(Asn1329Thr) g.34723251T>G Copied from the Exome Variant Server FAM205A_000004 6/4566 0/3182 6/1384
1 c.*3C>T r.(=) p.(=) g.34723226G>A Copied from the Exome Variant Server FAM205A_000003 1/4566 1/3182 0/1384
1 c.*35C>T r.(=) p.(=) g.34723194G>A Copied from the Exome Variant Server FAM205A_000002 53/4566 10/3182 43/1384
1 c.*48C>T r.(=) p.(=) g.34723181G>A Copied from the Exome Variant Server FAM205A_000001 1714/4566 1543/3182 171/1384
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