All transcript variants in gene MAGIX

Information The variants shown are described using the NM_024859.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-35T>G r.(=) p.(=) g.49019193T>G Copied from the Exome Variant Server MAGIX_000001 61/9709 1/6413 60/3296
?/? c.-12C>G r.(=) p.(=) g.49019216C>G Copied from the Exome Variant Server MAGIX_000002 1/9766 1/6430 0/3336
?/? c.-10A>G r.(=) p.(=) g.49019218A>G Copied from the Exome Variant Server MAGIX_000003 1/9798 0/6440 1/3358
?/? c.16del r.(?) p.(Gly7Alafs*69) g.49019243del Copied from the Exome Variant Server MAGIX_000004 4/9477 2/6212 2/3265
?/? c.18G>A r.(=) p.(=) g.49019245G>A Copied from the Exome Variant Server MAGIX_000005 3/9906 0/6481 3/3425
?/? c.20G>A r.(?) p.(Gly7Asp) g.49019247G>A Copied from the Exome Variant Server MAGIX_000006 5/9920 0/6487 5/3433
?/? c.42C>T r.(=) p.(=) g.49019269C>T Copied from the Exome Variant Server MAGIX_000007 1/10066 0/6526 1/3540
?/? c.49+20T>C r.(=) p.(=) g.49019296T>C Copied from the Exome Variant Server MAGIX_000008 1/10158 0/6571 1/3587
?/? c.49+44G>C r.(=) p.(=) g.49019320G>C Copied from the Exome Variant Server MAGIX_000009 2/10115 2/6538 0/3577
?/? c.49+48C>T r.(=) p.(=) g.49019324C>T Copied from the Exome Variant Server MAGIX_000010 1/10115 1/6536 0/3579
?/? c.169G>A r.(?) p.(Ala57Thr) g.49020240G>A Copied from the Exome Variant Server MAGIX_000011 34/5466 1/3623 33/1843
?/? c.197-73C>T r.(=) p.(=) g.49020972C>T Copied from the Exome Variant Server MAGIX_000012 1/10138 0/6569 1/3569
?/? c.197-30A>G r.(=) p.(=) g.49021015A>G Copied from the Exome Variant Server MAGIX_000013 1/10158 1/6571 0/3587
?/? c.197-5C>T r.spl? p.? g.49021040C>T Copied from the Exome Variant Server MAGIX_000014 26/10139 24/6563 2/3576
?/? c.202A>G r.(?) p.(Ser68Gly) g.49021050A>G Copied from the Exome Variant Server MAGIX_000015 297/10164 2/6564 295/3600
?/? c.204C>T r.(=) p.(=) g.49021052C>T Copied from the Exome Variant Server MAGIX_000016 765/10159 684/6563 81/3596
?/? c.205G>A r.(?) p.(Val69Met) g.49021053G>A Copied from the Exome Variant Server MAGIX_000017 1/10167 1/6565 0/3602
?/? c.271C>G r.(?) p.(Arg91Gly) g.49021119C>G Copied from the Exome Variant Server MAGIX_000018 1/10174 0/6564 1/3610
?/? c.279+22G>A r.(=) p.(=) g.49021149G>A Copied from the Exome Variant Server MAGIX_000019 1/10153 1/6563 0/3590
?/? c.279+31C>G r.(=) p.(=) g.49021158C>G Copied from the Exome Variant Server MAGIX_000020 1/10169 0/6571 1/3598
?/? c.283C>A r.(?) p.(Arg95Ser) g.49021204C>A Copied from the Exome Variant Server MAGIX_000021 1/10055 0/6511 1/3544
?/? c.315A>G r.(=) p.(=) g.49021236A>G Copied from the Exome Variant Server MAGIX_000022 1/10003 1/6515 0/3488
?/? c.335A>G N/A N/A g.49021256A>G Copied from the Exome Variant Server MAGIX_000023 9981/9993 6503/6515 3478/3478
?/? c.336T>C r.(=) p.(=) g.49021257T>C Copied from the Exome Variant Server MAGIX_000024 23/9992 0/6514 23/3478
?/? c.350C>T r.(?) p.(Pro117Leu) g.49021271C>T Copied from the Exome Variant Server MAGIX_000025 8/9969 8/6505 0/3464
?/? c.389G>A r.(?) p.(Arg130His) g.49021310G>A Copied from the Exome Variant Server MAGIX_000026 38/9941 30/6494 8/3447
?/? c.397G>T r.(?) p.(Ala133Ser) g.49021318G>T Copied from the Exome Variant Server MAGIX_000027 1/9952 1/6491 0/3461
?/? c.418G>T r.(?) p.(Gly140Cys) g.49021339G>T Copied from the Exome Variant Server MAGIX_000028 1/9928 1/6495 0/3433
?/? c.424G>C r.(?) p.(Gly142Arg) g.49021345G>C Copied from the Exome Variant Server MAGIX_000029 1/9939 1/6496 0/3443
?/? c.444C>T r.(=) p.(=) g.49021365C>T Copied from the Exome Variant Server MAGIX_000030 1/9999 1/6502 0/3497
?/? c.449C>T r.(?) p.(Pro150Leu) g.49021370C>T Copied from the Exome Variant Server MAGIX_000031 23/9998 1/6505 22/3493
?/? c.461G>A r.(?) p.(Arg154His) g.49021382G>A Copied from the Exome Variant Server MAGIX_000032 1/10037 1/6516 0/3521
?/? c.462C>T r.(=) p.(=) g.49021383C>T Copied from the Exome Variant Server MAGIX_000033 1/10039 1/6516 0/3523
?/? c.463G>A r.(?) p.(Gly155Arg) g.49021384G>A Copied from the Exome Variant Server MAGIX_000034 2/10049 2/6528 0/3521
?/? c.517G>C N/A N/A g.49021537G>C Copied from the Exome Variant Server MAGIX_000035 9990/10001 6482/6493 3508/3508
?/? c.534C>T r.(=) p.(=) g.49021554C>T Copied from the Exome Variant Server MAGIX_000036 1/9913 1/6463 0/3450
?/? c.570C>G r.(=) p.(=) g.49021590C>G Copied from the Exome Variant Server MAGIX_000037 5/9769 5/6425 0/3344
?/? c.606C>T r.(=) p.(=) g.49021626C>T Copied from the Exome Variant Server MAGIX_000038 1/9604 1/6385 0/3219
?/? c.619C>T r.(?) p.(Arg207Trp) g.49021639C>T Copied from the Exome Variant Server MAGIX_000039 35/9578 33/6383 2/3195
?/? c.679+47A>C r.(=) p.(=) g.49021746A>C Copied from the Exome Variant Server MAGIX_000040 7/9550 0/6284 7/3266
?/? c.783G>A r.(=) p.(=) g.49022516G>A Copied from the Exome Variant Server MAGIX_000041 3/10043 3/6542 0/3501
?/? c.943_944insT r.(?) p.(Gly316Argfs*92) g.49022676_49022677insT Copied from the Exome Variant Server MAGIX_000042 15/8471 1/5706 14/2765
Legend