All transcript variants in gene MCTS1

Information The variants shown are described using the NM_014060.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-37G>A r.(=) p.(=) g.119738055G>A Copied from the Exome Variant Server MCTS1_000001 1/10563 0/6728 1/3835
?/? c.11+14G>A r.(=) p.(=) g.119738116G>A Copied from the Exome Variant Server MCTS1_000002 2/10563 2/6728 0/3835
?/? c.11+24T>G r.(=) p.(=) g.119738126T>G Copied from the Exome Variant Server MCTS1_000003 2/10563 0/6728 2/3835
?/? c.11+51G>T r.(=) p.(=) g.119738153G>T Copied from the Exome Variant Server MCTS1_000004 3/10563 0/6728 3/3835
?/? c.12-49A>G r.(=) p.(=) g.119739213A>G Copied from the Exome Variant Server MCTS1_000005 1/10545 1/6722 0/3823
?/? c.70G>T r.(?) p.(Gly24Cys) g.119739320G>T Copied from the Exome Variant Server MCTS1_000006 8/10560 7/6725 1/3835
?/? c.213T>C r.(=) p.(=) g.119739982T>C Copied from the Exome Variant Server MCTS1_000007 1/10540 1/6706 0/3834
?/? c.215G>A r.(?) p.(Arg72Lys) g.119739984G>A Copied from the Exome Variant Server MCTS1_000008 22/10540 21/6706 1/3834
?/? c.263-20T>C r.(=) p.(=) g.119742060T>C Copied from the Exome Variant Server MCTS1_000009 2/10558 0/6723 2/3835
?/? c.396+15C>A r.(=) p.(=) g.119742228C>A Copied from the Exome Variant Server MCTS1_000010 1/10563 0/6728 1/3835
?/? c.397-51G>A r.(=) p.(=) g.119744815G>A Copied from the Exome Variant Server MCTS1_000011 1/10563 0/6728 1/3835
?/? c.397-31_397-28del r.(=) p.(=) g.119744835_119744838del Copied from the Exome Variant Server MCTS1_000012 134/10205 15/6484 119/3721
?/? c.398C>T r.(?) p.(Ala133Val) g.119744867C>T Copied from the Exome Variant Server MCTS1_000013 1/10563 1/6728 0/3835
?/? c.465-30T>C r.(=) p.(=) g.119746008T>C Copied from the Exome Variant Server MCTS1_000014 1617/10562 1466/6727 151/3835
?/? c.465-19del r.(=) p.(=) g.119746019del Copied from the Exome Variant Server MCTS1_000015 1/10204 0/6483 1/3721
?/? c.465-18del r.(=) p.(=) g.119746020del Copied from the Exome Variant Server MCTS1_000016 51/10204 31/6483 20/3721
?/? c.540T>C r.(=) p.(=) g.119746113T>C Copied from the Exome Variant Server MCTS1_000017 2/10563 0/6728 2/3835
?/? c.*38T>A r.(=) p.(=) g.119746157T>A Copied from the Exome Variant Server MCTS1_000018 1/10563 0/6728 1/3835
Legend