All transcript variants in gene GLOD5

Information The variants shown are described using the NM_001080489.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12G>A r.(=) p.(=) g.48620183G>A Copied from the Exome Variant Server GLOD5_000001 1227/3600 500/2391 727/1209
?/? c.63+32A>G r.(=) p.(=) g.48620289A>G Copied from the Exome Variant Server GLOD5_000002 1/3600 1/2391 0/1209
?/? c.63+38del r.(=) p.(=) g.48620295del Copied from the Exome Variant Server GLOD5_000003 1/6377 1/3966 0/2411
?/? c.64-237_64-236insG r.(=) p.(=) g.48624003_48624004insG Copied from the Exome Variant Server GLOD5_000004 177/9036 165/6110 12/2926
?/? c.64-233_64-231del r.(=) p.(=) g.48624007_48624009del Copied from the Exome Variant Server GLOD5_000005 1619/9055 1073/6124 546/2931
?/? c.64-232_64-231del r.(=) p.(=) g.48624008_48624009del Copied from the Exome Variant Server GLOD5_000006 1817/9055 1368/6124 449/2931
?/? c.64-93G>A r.(=) p.(=) g.48624147G>A Copied from the Exome Variant Server GLOD5_000007 1/3600 0/2391 1/1209
?/? c.64-20A>G r.(=) p.(=) g.48624220A>G Copied from the Exome Variant Server GLOD5_000008 134/9680 1/6432 133/3248
?/? c.64-4T>C r.spl? p.? g.48624236T>C Copied from the Exome Variant Server GLOD5_000009 1/9684 0/6433 1/3251
?/? c.64-1G>C r.spl? p.? g.48624239G>C Copied from the Exome Variant Server GLOD5_000010 1/9700 1/6439 0/3261
?/? c.67T>C r.(?) p.(Trp23Arg) g.48624243T>C Copied from the Exome Variant Server GLOD5_000011 1/9713 0/6440 1/3273
?/? c.68G>T r.(?) p.(Trp23Leu) g.48624244G>T Copied from the Exome Variant Server GLOD5_000012 1/9743 1/6452 0/3291
?/? c.107G>A r.(?) p.(Arg36His) g.48624283G>A Copied from the Exome Variant Server GLOD5_000013 2/9803 2/6470 0/3333
?/? c.181A>G r.(?) p.(Met61Val) g.48624357A>G Copied from the Exome Variant Server GLOD5_000014 10/9694 8/6432 2/3262
?/? c.218T>C r.(?) p.(Leu73Pro) g.48629359T>C Copied from the Exome Variant Server GLOD5_000015 307/9562 1/6414 306/3148
?/? c.304G>A r.(?) p.(Asp102Asn) g.48629445G>A Copied from the Exome Variant Server GLOD5_000016 13/9591 13/6425 0/3166
?/? c.318C>T r.(=) p.(=) g.48629459C>T Copied from the Exome Variant Server GLOD5_000017 1/9630 1/6426 0/3204
?/? c.325G>C r.(?) p.(Val109Leu) g.48629466G>C Copied from the Exome Variant Server GLOD5_000018 2/9660 2/6430 0/3230
?/? c.355A>G r.(?) p.(Lys119Glu) g.48629496A>G Copied from the Exome Variant Server GLOD5_000019 46/9651 38/6439 8/3212
?/? c.357+9G>T r.(=) p.(=) g.48629507G>T Copied from the Exome Variant Server GLOD5_000020 1/9661 0/6435 1/3226
?/? c.358-48C>A r.(=) p.(=) g.48631678C>A Copied from the Exome Variant Server GLOD5_000021 2/9597 2/6401 0/3196
?/? c.358-33A>G r.(=) p.(=) g.48631693A>G Copied from the Exome Variant Server GLOD5_000022 1/9602 1/6406 0/3196
?/? c.358-32C>T r.(=) p.(=) g.48631694C>T Copied from the Exome Variant Server GLOD5_000023 6/9605 5/6407 1/3198
?/? c.358-6C>T r.(=) p.(=) g.48631720C>T Copied from the Exome Variant Server GLOD5_000024 1/9611 1/6411 0/3200
?/? c.422_423insCA r.(?) p.(Ile142Thrfs*11) g.48631790_48631791insCA Copied from the Exome Variant Server GLOD5_000025 1/9339 0/6198 1/3141
?/? c.434G>A r.(?) p.(Arg145Gln) g.48631802G>A Copied from the Exome Variant Server GLOD5_000026 1/9691 1/6450 0/3241
?/? c.441C>T r.(=) p.(=) g.48631809C>T Copied from the Exome Variant Server GLOD5_000027 3/9695 2/6448 1/3247
?/? c.448A>C r.(?) p.(Asn150His) g.48631816A>C Copied from the Exome Variant Server GLOD5_000028 5/9714 1/6449 4/3265
?/? c.464C>G r.(?) p.(Ser155Cys) g.48631832C>G Copied from the Exome Variant Server GLOD5_000029 1/9753 0/6456 1/3297
?/? c.480G>A r.(=) p.(=) g.48631848G>A Copied from the Exome Variant Server GLOD5_000030 28/9770 1/6447 27/3323
?/? c.*12C>G r.(=) p.(=) g.48631863C>G Copied from the Exome Variant Server GLOD5_000031 1/9794 1/6449 0/3345
?/? c.*20A>G r.(=) p.(=) g.48631871A>G Copied from the Exome Variant Server GLOD5_000032 7/9781 4/6440 3/3341
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