All transcript variants in gene TLX1

Information The variants shown are described using the NM_005521.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.22C>T r.(?) p.(His8Tyr) g.102891320C>T Copied from the Exome Variant Server TLX1_000001 1/13002 1/8598 0/4404
?/? c.54C>T r.(=) p.(=) g.102891352C>T Copied from the Exome Variant Server TLX1_000002 1/13006 0/8600 1/4406
?/? c.57C>T r.(=) p.(=) g.102891355C>T Copied from the Exome Variant Server TLX1_000003 1/13006 1/8600 0/4406
?/? c.80G>C r.(?) p.(Ser27Thr) g.102891378G>C Copied from the Exome Variant Server TLX1_000004 2/13004 1/8598 1/4406
?/? c.92G>A r.(?) p.(Gly31Asp) g.102891390G>A Copied from the Exome Variant Server TLX1_000005 86/13004 81/8600 5/4404
?/? c.136G>A r.(?) p.(Gly46Ser) g.102891434G>A Copied from the Exome Variant Server TLX1_000006 1/12986 1/8594 0/4392
?/? c.146G>T r.(?) p.(Cys49Phe) g.102891444G>T Copied from the Exome Variant Server TLX1_000007 1/12982 1/8594 0/4388
?/? c.259_261del r.(?) p.(Gly90del) g.102891557_102891559del Copied from the Exome Variant Server TLX1_000008 18/3946 13/2882 5/1064
?/? c.382G>A r.(?) p.(Ala128Thr) g.102891680G>A Copied from the Exome Variant Server TLX1_000009 200/10782 182/7180 18/3602
?/? c.434C>T r.(?) p.(Ala145Val) g.102891732C>T Copied from the Exome Variant Server TLX1_000010 6/12512 0/8264 6/4248
?/? c.444G>A r.(=) p.(=) g.102891742G>A Copied from the Exome Variant Server TLX1_000011 2/12440 2/8220 0/4220
?/? c.459_460insT r.(?) p.(Leu154Phefs*27) g.102891757_102891758insT Copied from the Exome Variant Server TLX1_000012 504/11632 328/7632 176/4000
?/? c.473C>T r.(?) p.(Pro158Leu) g.102891771C>T Copied from the Exome Variant Server TLX1_000013 2/12588 2/8300 0/4288
?/? c.492G>A r.(=) p.(=) g.102891790G>A Copied from the Exome Variant Server TLX1_000014 1/12720 0/8388 1/4332
?/? c.500A>G r.(?) p.(Asn167Ser) g.102891798A>G Copied from the Exome Variant Server TLX1_000015 1/12748 1/8414 0/4334
?/? c.568+3G>A r.spl? p.? g.102891869G>A Copied from the Exome Variant Server TLX1_000016 1/12844 0/8500 1/4344
?/? c.568+47G>T r.(=) p.(=) g.102891913G>T Copied from the Exome Variant Server TLX1_000017 2/12314 0/8164 2/4150
?/? c.569-32C>T r.(=) p.(=) g.102893900C>T Copied from the Exome Variant Server TLX1_000018 1/12950 0/8578 1/4372
?/? c.569-12C>T r.(=) p.(=) g.102893920C>T Copied from the Exome Variant Server TLX1_000019 5/12980 5/8592 0/4388
?/? c.600G>A r.(=) p.(=) g.102893963G>A Copied from the Exome Variant Server TLX1_000020 31/12998 0/8598 31/4400
?/? c.611C>T r.(?) p.(Pro204Leu) g.102893974C>T Copied from the Exome Variant Server TLX1_000021 3/12994 3/8596 0/4398
?/? c.655C>T r.(?) p.(Arg219Cys) g.102894018C>T Copied from the Exome Variant Server TLX1_000022 1/12992 0/8600 1/4392
?/? c.663C>T r.(=) p.(=) g.102894026C>T Copied from the Exome Variant Server TLX1_000023 1/12994 1/8598 0/4396
?/? c.671A>G r.(?) p.(Lys224Arg) g.102894034A>G Copied from the Exome Variant Server TLX1_000024 1/12998 1/8598 0/4400
?/? c.770+23C>T r.(=) p.(=) g.102894156C>T Copied from the Exome Variant Server TLX1_000025 1/12788 1/8480 0/4308
?/? c.770+31G>T r.(=) p.(=) g.102894164G>T Copied from the Exome Variant Server TLX1_000026 1/12730 1/8434 0/4296
?/? c.831G>A r.(=) p.(=) g.102896508G>A Copied from the Exome Variant Server TLX1_000027 2/13004 2/8600 0/4404
?/? c.863C>A r.(?) p.(Ala288Glu) g.102896540C>A Copied from the Exome Variant Server TLX1_000028 1/13006 1/8600 0/4406
?/? c.915C>T r.(=) p.(=) g.102896592C>T Copied from the Exome Variant Server TLX1_000029 1/13006 1/8600 0/4406
?/? c.940_942del r.(?) p.(Asp315del) g.102896617_102896619del Copied from the Exome Variant Server TLX1_000030 7/12518 0/8254 7/4264
?/? c.971C>T r.(?) p.(Ser324Leu) g.102896648C>T Copied from the Exome Variant Server TLX1_000031 1/13006 1/8600 0/4406
Legend