All transcript variants in gene SLC6A14

Information The variants shown are described using the NM_007231.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30G>A r.(=) p.(=) g.115567848G>A Copied from the Exome Variant Server SLC6A14_000001 69/9083 2/5689 67/3394
?/? c.48+3A>C r.spl? p.? g.115567928A>C Copied from the Exome Variant Server SLC6A14_000002 1/9382 1/5906 0/3476
?/? c.49-21T>C r.(=) p.(=) g.115568937T>C Copied from the Exome Variant Server SLC6A14_000003 1/10563 0/6728 1/3835
?/? c.78T>C r.(=) p.(=) g.115568987T>C Copied from the Exome Variant Server SLC6A14_000004 1/10563 1/6728 0/3835
?/? c.84T>A r.(=) p.(=) g.115568993T>A Copied from the Exome Variant Server SLC6A14_000005 749/10563 588/6728 161/3835
?/? c.145A>G r.(?) p.(Met49Val) g.115569054A>G Copied from the Exome Variant Server SLC6A14_000006 1/10563 1/6728 0/3835
?/? c.207T>C r.(=) p.(=) g.115569116T>C Copied from the Exome Variant Server SLC6A14_000007 2/10563 2/6728 0/3835
?/? c.216C>T r.(=) p.(=) g.115572135C>T Copied from the Exome Variant Server SLC6A14_000008 1/10563 1/6728 0/3835
?/? c.267G>A r.(=) p.(=) g.115572186G>A Copied from the Exome Variant Server SLC6A14_000009 2/10563 0/6728 2/3835
?/? c.346+20C>A r.(=) p.(=) g.115572285C>A Copied from the Exome Variant Server SLC6A14_000010 8/10563 0/6728 8/3835
?/? c.347-43T>C r.(=) p.(=) g.115573812T>C Copied from the Exome Variant Server SLC6A14_000011 647/10543 575/6714 72/3829
?/? c.347-41C>T r.(=) p.(=) g.115573814C>T Copied from the Exome Variant Server SLC6A14_000012 1/10545 1/6716 0/3829
?/? c.347-16G>A r.(=) p.(=) g.115573839G>A Copied from the Exome Variant Server SLC6A14_000013 1/10560 1/6725 0/3835
?/? c.347-13_347-12insT r.(=) p.(=) g.115573842_115573843insT Copied from the Exome Variant Server SLC6A14_000014 4/10199 2/6480 2/3719
?/? c.409G>T r.(?) p.(Ala137Ser) g.115573917G>T Copied from the Exome Variant Server SLC6A14_000015 1/10560 1/6725 0/3835
?/? c.435T>C r.(=) p.(=) g.115573943T>C Copied from the Exome Variant Server SLC6A14_000016 1/10560 1/6725 0/3835
?/? c.456A>G r.(=) p.(=) g.115573964A>G Copied from the Exome Variant Server SLC6A14_000017 39/10560 1/6725 38/3835
?/? c.474G>A r.(=) p.(=) g.115573982G>A Copied from the Exome Variant Server SLC6A14_000018 1/10560 0/6725 1/3835
?/? c.504A>G r.(=) p.(=) g.115574012A>G Copied from the Exome Variant Server SLC6A14_000019 1/10562 1/6727 0/3835
?/? c.509-42_509-39del r.(=) p.(=) g.115574769_115574772del Copied from the Exome Variant Server SLC6A14_000020 4/10182 2/6469 2/3713
?/? c.555C>T r.(=) p.(=) g.115574857C>T Copied from the Exome Variant Server SLC6A14_000021 1/10562 1/6727 0/3835
?/? c.631C>T r.(?) p.(Gln211*) g.115574933C>T Copied from the Exome Variant Server SLC6A14_000022 1/10563 1/6728 0/3835
?/? c.656+48T>G r.(=) p.(=) g.115575006T>G Copied from the Exome Variant Server SLC6A14_000023 1/10550 0/6722 1/3828
?/? c.745A>G r.(?) p.(Ile249Val) g.115576174A>G Copied from the Exome Variant Server SLC6A14_000024 46/10563 0/6728 46/3835
?/? c.789+31T>C r.(=) p.(=) g.115576249T>C Copied from the Exome Variant Server SLC6A14_000025 1/10563 1/6728 0/3835
?/? c.795A>G r.(=) p.(=) g.115577912A>G Copied from the Exome Variant Server SLC6A14_000026 8/10561 7/6726 1/3835
?/? c.845G>A r.(?) p.(Arg282Gln) g.115577962G>A Copied from the Exome Variant Server SLC6A14_000027 1/10563 1/6728 0/3835
?/? c.861G>T r.(?) p.(Glu287Asp) g.115577978G>T Copied from the Exome Variant Server SLC6A14_000028 1/10563 1/6728 0/3835
?/? c.931-31T>A r.(=) p.(=) g.115582576T>A Copied from the Exome Variant Server SLC6A14_000029 34/10463 1/6676 33/3787
?/? c.967C>T r.(?) p.(Leu323Phe) g.115582643C>T Copied from the Exome Variant Server SLC6A14_000030 1/10563 1/6728 0/3835
?/? c.999A>G r.(=) p.(=) g.115582675A>G Copied from the Exome Variant Server SLC6A14_000031 52/10563 0/6728 52/3835
?/? c.1074C>T r.(=) p.(=) g.115582750C>T Copied from the Exome Variant Server SLC6A14_000032 38/10563 36/6728 2/3835
?/? c.1124T>C r.(?) p.(Ile375Thr) g.115582800T>C Copied from the Exome Variant Server SLC6A14_000033 3/10563 3/6728 0/3835
?/? c.1159+34_1159+35insG r.(=) p.(=) g.115582869_115582870insG Copied from the Exome Variant Server SLC6A14_000034 19/10157 7/6461 12/3696
?/? c.1159+44T>C r.(=) p.(=) g.115582879T>C Copied from the Exome Variant Server SLC6A14_000035 4/10490 4/6691 0/3799
?/? c.1186C>G r.(?) p.(Pro396Ala) g.115584208C>G Copied from the Exome Variant Server SLC6A14_000036 1/10563 0/6728 1/3835
?/? c.1286-32A>C r.(=) p.(=) g.115585458A>C Copied from the Exome Variant Server SLC6A14_000037 1/10563 1/6728 0/3835
?/? c.1337T>C r.(?) p.(Met446Thr) g.115585541T>C Copied from the Exome Variant Server SLC6A14_000038 1/10563 0/6728 1/3835
?/? c.1390G>A r.(?) p.(Val464Ile) g.115585594G>A Copied from the Exome Variant Server SLC6A14_000039 1/10563 0/6728 1/3835
?/? c.1397T>C r.(?) p.(Val466Ala) g.115585601T>C Copied from the Exome Variant Server SLC6A14_000040 5/10563 0/6728 5/3835
?/? c.1404+13_1404+14insT r.(=) p.(=) g.115585621_115585622insT Copied from the Exome Variant Server SLC6A14_000041 22/10203 0/6482 22/3721
?/? c.1405-32A>G r.(=) p.(=) g.115586111A>G Copied from the Exome Variant Server SLC6A14_000042 3/10549 3/6720 0/3829
?/? c.1405-3T>C r.spl? p.? g.115586140T>C Copied from the Exome Variant Server SLC6A14_000043 269/10563 0/6728 269/3835
?/? c.1504+15T>C r.(=) p.(=) g.115586257T>C Copied from the Exome Variant Server SLC6A14_000044 1/10556 1/6721 0/3835
?/? c.1504+28C>A r.(=) p.(=) g.115586270C>A Copied from the Exome Variant Server SLC6A14_000045 47/10534 0/6709 47/3825
?/? c.1505-17C>G r.(=) p.(=) g.115586506C>G Copied from the Exome Variant Server SLC6A14_000046 82/10563 0/6728 82/3835
?/? c.1515A>T r.(?) p.(Arg505Ser) g.115586533A>T Copied from the Exome Variant Server SLC6A14_000047 1/10563 1/6728 0/3835
?/? c.1569A>G r.(=) p.(=) g.115586587A>G Copied from the Exome Variant Server SLC6A14_000048 1/10563 0/6728 1/3835
?/? c.1614+31C>T r.(=) p.(=) g.115586663C>T Copied from the Exome Variant Server SLC6A14_000049 81/10563 2/6728 79/3835
?/? c.1614+32G>A r.(=) p.(=) g.115586664G>A Copied from the Exome Variant Server SLC6A14_000050 2/10563 0/6728 2/3835
?/? c.1615-29C>T r.(=) p.(=) g.115588746C>T Copied from the Exome Variant Server SLC6A14_000051 1/10563 0/6728 1/3835
?/? c.1779T>C r.(=) p.(=) g.115588939T>C Copied from the Exome Variant Server SLC6A14_000052 1/10563 0/6728 1/3835
?/? c.1782+18G>A r.(=) p.(=) g.115588960G>A Copied from the Exome Variant Server SLC6A14_000053 1/10563 0/6728 1/3835
?/? c.1846G>A r.(?) p.(Glu616Lys) g.115590038G>A Copied from the Exome Variant Server SLC6A14_000054 1/10563 1/6728 0/3835
?/? c.1927T>C r.(?) p.(*643Argext*8) g.115590119T>C Copied from the Exome Variant Server SLC6A14_000055 1/10562 1/6727 0/3835
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