Unique variants in gene TSFM

Information The variants shown are described using the NM_005726.5 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.5C>T r.(?) p.(Ser2Leu) g.58176589C>T - TSFM_000001 rs35957924 0.001938 1 516 8575 - - Admin
./. 1 - c.24C>T r.(=) p.(=) g.58176608C>T - TSFM_000002 rs138461986 0.001938 1 516 8966 - - Admin
./. 1 - c.30T>C r.(=) p.(=) g.58176614T>C - TSFM_000003 rs10747783 0.24 124 516 10080 - - Admin
./. 1 - c.58-107C>A r.(=) p.(=) g.58176786C>A - TSFM_000004 rs113230710 0.003876 2 516 4637 - - Admin
./. 1 - c.58-96A>G r.(=) p.(=) g.58176797A>G - TSFM_000005 rs11614185 0.021 11 516 4325 - - Admin
./. 1 - c.58-82A>G r.(=) p.(=) g.58176811A>G - TSFM_000006 rs541706069 0.003876 2 516 3938 - - Admin
./. 1 - c.231+25C>T r.(=) p.(=) g.58177091C>T - TSFM_000007 rs12302696 0.007752 4 516 9429 - - Admin
./. 1 - c.231+226G>A r.(=) p.(=) g.58177292G>A - TSFM_000008 rs11172336 0.012 6 516 10256 - - Admin
./. 1 - c.231+301T>A r.(=) p.(=) g.58177367T>A - TSFM_000009 rs564097955 0.003876 2 516 13966 - - Admin
./. 1 - c.231+314_231+315del r.(=) p.(=) g.58177380_58177381del - TSFM_000010 rs774210358 0.003876 2 516 13966 - - Admin
./. 1 - c.231+315del r.(=) p.(=) g.58177381del - TSFM_000011 rs774210358 0.003876 2 516 13966 - - Admin
./. 1 - c.231+371C>T r.(=) p.(=) g.58177437C>T - TSFM_000012 rs2014886 0.207 107 516 3099 - - Admin
./. 1 - c.231+581C>T r.(=) p.(=) g.58177647C>T - TSFM_000013 rs1014614529 0.001938 1 516 2640 1 - Admin
./. 1 - c.231+782A>G r.(=) p.(=) g.58177848A>G - TSFM_000014 rs765493784 0.001938 1 516 5526 - - Admin
./. 1 - c.231+877G>A r.(=) p.(=) g.58177943G>A - TSFM_000015 rs1599932 0.218 112 514 2158 - - Admin
./. 1 - c.232-19T>G r.(=) p.(=) g.58179927T>G - TSFM_000016 rs112348190 0.003876 2 516 7669 - - Admin
./. 1 - c.361-12T>G r.(=) p.(=) g.58180811T>G - TSFM_000017 rs368313488 0.001938 1 516 6160 - - Admin
./. 1 - c.484-1106del r.(=) p.(=) g.58185663del - TSFM_000018 - 0.001938 1 516 2640 1 - Admin
./. 1 - c.571+109T>C r.(=) p.(=) g.58186965T>C - TSFM_000019 rs140588648 0.001946 1 514 3562 - - Admin
./. 1 - c.571+151A>T r.(=) p.(=) g.58187007A>T - TSFM_000020 rs541130354 0.001976 1 506 1746 - - Admin
./. 1 - c.754G>A r.(?) p.(Val252Ile) g.58190142G>A - TSFM_000021 rs114694283 0.005814 3 516 9249 - - Admin
./. 1 - c.760C>T r.(?) p.(Arg254Cys) g.58190148C>T - TSFM_000022 rs200132571 0.001938 1 516 9238 - - Admin
./. 1 - c.797T>A r.(?) p.(Leu266His) g.58190185T>A - TSFM_000023 rs146777264 0.001938 1 516 8978 - - Admin
./. 1 - c.*1192A>T r.(=) p.(=) g.58191558A>T - TSFM_000024 rs1328932882 0.001938 1 516 2824 1 - Admin
./. 1 - c.*3185A>G r.(=) p.(=) g.58193551A>G - TSFM_000025 rs112927452 0.003876 2 516 4684 - - Admin
./. 1 - c.*4495A>G r.(=) p.(=) g.58194861A>G - TSFM_000026 rs761509126 0.001938 1 516 2053 - - Admin
./. 1 - c.*4588A>G r.(=) p.(=) g.58194954A>G - TSFM_000027 rs111647711 0.003891 2 514 5042 - - Admin
./. 1 - c.*4638A>G r.(=) p.(=) g.58195004A>G - TSFM_000028 rs116275535 0.003876 2 516 6197 - - Admin
./. 1 - c.*4672T>C r.(=) p.(=) g.58195038T>C - TSFM_000029 rs112274200 0.003876 2 516 5784 - - Admin
./. 1 - c.*5534C>G r.(=) p.(=) g.58195900C>G - TSFM_000030 rs11172345 0.001938 1 516 4066 - - Admin
./. 1 - c.*5729C>T r.(=) p.(=) g.58196095C>T - TSFM_000031 rs139933127 0.001938 1 516 6904 - - Admin
./. 1 - c.*5751A>T r.(=) p.(=) g.58196117A>T - TSFM_000032 - 0.001938 1 516 6416 1 - Admin
./. 1 - c.*5752A>G r.(=) p.(=) g.58196118A>G - TSFM_000033 rs143252193 0.003876 2 516 6437 - - Admin
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