All transcript variants in gene APOOL

Information The variants shown are described using the NM_198450.5 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10G>A r.(=) p.(=) g.84258909G>A Copied from the Exome Variant Server APOOL_000001 8/9843 0/6469 8/3374
?/? c.1A>T r.? p.? g.84258919A>T Copied from the Exome Variant Server APOOL_000002 1/9790 1/6446 0/3344
?/? c.15+13C>G r.(=) p.(=) g.84258946C>G Copied from the Exome Variant Server APOOL_000003 2/9689 0/6431 2/3258
?/? c.16-25G>T r.(=) p.(=) g.84301427G>T Copied from the Exome Variant Server APOOL_000004 1/9410 0/6360 1/3050
?/? c.40G>T r.(?) p.(Ala14Ser) g.84301476G>T Copied from the Exome Variant Server APOOL_000005 1/9539 1/6387 0/3152
?/? c.44G>C r.(?) p.(Gly15Ala) g.84301480G>C Copied from the Exome Variant Server APOOL_000006 1/9545 0/6387 1/3158
?/? c.55G>A r.(?) p.(Ala19Thr) g.84301491G>A Copied from the Exome Variant Server APOOL_000007 1/9549 0/6395 1/3154
?/? c.62T>C r.(?) p.(Val21Ala) g.84301498T>C Copied from the Exome Variant Server APOOL_000008 1/9549 0/6393 1/3156
?/? c.88G>A r.(?) p.(Glu30Lys) g.84301524G>A Copied from the Exome Variant Server APOOL_000009 4/9540 0/6394 4/3146
?/? c.120+23T>C r.(=) p.(=) g.84301579T>C Copied from the Exome Variant Server APOOL_000010 1/9447 0/6369 1/3078
?/? c.120+30T>C r.(=) p.(=) g.84301586T>C Copied from the Exome Variant Server APOOL_000011 3/9432 1/6366 2/3066
?/? c.121-51T>C r.(=) p.(=) g.84306344T>C Copied from the Exome Variant Server APOOL_000012 1/4975 0/3287 1/1688
?/? c.121-21A>G r.(=) p.(=) g.84306374A>G Copied from the Exome Variant Server APOOL_000013 1/9545 0/6413 1/3132
?/? c.121-14del r.(=) p.(=) g.84306381del Copied from the Exome Variant Server APOOL_000015 10/9200 8/6178 2/3022
?/? c.121-14dup r.(=) p.(=) g.84306381dup Copied from the Exome Variant Server APOOL_000014 450/9200 15/6178 435/3022
?/? c.121-7C>T r.(=) p.(=) g.84306388C>T Copied from the Exome Variant Server APOOL_000016 1/9536 0/6402 1/3134
?/? c.214A>G r.(?) p.(Thr72Ala) g.84306488A>G Copied from the Exome Variant Server APOOL_000017 5/9595 0/6421 5/3174
?/? c.228T>A r.(=) p.(=) g.84306502T>A Copied from the Exome Variant Server APOOL_000018 9/9589 9/6417 0/3172
?/? c.236G>A r.(?) p.(Cys79Tyr) g.84306510G>A Copied from the Exome Variant Server APOOL_000019 1/9575 0/6407 1/3168
?/? c.241-27G>A r.(=) p.(=) g.84309323G>A Copied from the Exome Variant Server APOOL_000020 2/9402 0/6344 2/3058
?/? c.241-23_241-22insCCC r.(=) p.(=) g.84309327_84309328insCCC Copied from the Exome Variant Server APOOL_000021 135/9061 84/6111 51/2950
?/? c.241-16_241-15insCTT r.(=) p.(=) g.84309334_84309335insCTT Copied from the Exome Variant Server APOOL_000022 319/9067 189/6114 130/2953
?/? c.241-15del r.(=) p.(=) g.84309335del Copied from the Exome Variant Server APOOL_000024 221/9067 154/6114 67/2953
?/? c.241-15dup r.(=) p.(=) g.84309335dup Copied from the Exome Variant Server APOOL_000023 215/9067 139/6114 76/2953
?/? c.241-5_241-4insT r.spl? p.? g.84309345_84309346insT Copied from the Exome Variant Server APOOL_000025 19/9063 0/6115 19/2948
?/? c.295+28T>C r.(=) p.(=) g.84309432T>C Copied from the Exome Variant Server APOOL_000026 80/9391 1/6342 79/3049
?/? c.296-46C>A r.(=) p.(=) g.84310787C>A Copied from the Exome Variant Server APOOL_000027 5/9300 0/6308 5/2992
?/? c.296-29T>A r.(=) p.(=) g.84310804T>A Copied from the Exome Variant Server APOOL_000028 2/9333 2/6332 0/3001
?/? c.296-10A>T r.(=) p.(=) g.84310823A>T Copied from the Exome Variant Server APOOL_000029 2/9364 2/6348 0/3016
?/? c.308A>G r.(?) p.(Tyr103Cys) g.84310845A>G Copied from the Exome Variant Server APOOL_000030 1/9372 1/6352 0/3020
?/? c.326G>A r.(?) p.(Arg109Gln) g.84310863G>A Copied from the Exome Variant Server APOOL_000031 1/9373 0/6355 1/3018
?/? c.336T>C r.(=) p.(=) g.84310873T>C Copied from the Exome Variant Server APOOL_000032 1/9368 0/6354 1/3014
?/? c.337C>G r.(?) p.(Pro113Ala) g.84310874C>G Copied from the Exome Variant Server APOOL_000033 1/9368 1/6354 0/3014
?/? c.362C>T r.(?) p.(Ser121Leu) g.84310899C>T Copied from the Exome Variant Server APOOL_000034 1/9369 1/6349 0/3020
?/? c.363A>C r.(=) p.(=) g.84310900A>C Copied from the Exome Variant Server APOOL_000035 9/9369 9/6349 0/3020
?/? c.386C>T r.(?) p.(Ala129Val) g.84310923C>T Copied from the Exome Variant Server APOOL_000036 1/9371 0/6345 1/3026
?/? c.387G>T r.(=) p.(=) g.84310924G>T Copied from the Exome Variant Server APOOL_000037 1/9370 1/6346 0/3024
?/? c.394+7T>C r.(=) p.(=) g.84310938T>C Copied from the Exome Variant Server APOOL_000038 15/9376 0/6345 15/3031
?/? c.472G>A r.(?) p.(Val158Ile) g.84322210G>A Copied from the Exome Variant Server APOOL_000039 6/9170 1/6189 5/2981
?/? c.486+17T>C r.(=) p.(=) g.84322241T>C Copied from the Exome Variant Server APOOL_000041 1/8896 1/5974 0/2922
?/? c.495del r.(?) p.(Lys167Argfs*35) g.84329012del Copied from the Exome Variant Server APOOL_000042 20/8853 14/5983 6/2870
?/? c.502G>A r.(?) p.(Val168Ile) g.84329019G>A Copied from the Exome Variant Server APOOL_000043 1/9218 1/6240 0/2978
?/? c.584C>G r.(?) p.(Pro195Arg) g.84329101C>G Copied from the Exome Variant Server APOOL_000044 13/9355 0/6269 13/3086
?/? c.601-6A>G r.(=) p.(=) g.84329274A>G Copied from the Exome Variant Server APOOL_000045 1/9482 0/6373 1/3109
?/? c.615C>G r.(=) p.(=) g.84329294C>G Copied from the Exome Variant Server APOOL_000046 1/9483 1/6378 0/3105
?/? c.620T>C r.(?) p.(Ile207Thr) g.84329299T>C Copied from the Exome Variant Server APOOL_000047 1/9506 1/6393 0/3113
?/? c.718+8G>A r.(=) p.(=) g.84329405G>A Copied from the Exome Variant Server APOOL_000048 3/9475 0/6385 3/3090
?/? c.719-23T>G r.(=) p.(=) g.84342573T>G Copied from the Exome Variant Server APOOL_000049 1/9430 1/6367 0/3063
?/? c.759C>T r.(=) p.(=) g.84342636C>T Copied from the Exome Variant Server APOOL_000050 14/9588 0/6414 14/3174
?/? c.*48G>A r.(=) p.(=) g.84342732G>A Copied from the Exome Variant Server APOOL_000040 2/9696 2/6437 0/3259
?/? c.*4790_*4791insT r.(=) p.(=) g.84347474_84347475insT Copied from the Exome Variant Server SATL1_000001 1/10205 0/6484 1/3721
?/? c.*4841C>T r.(=) p.(=) g.84347525C>T Copied from the Exome Variant Server SATL1_000002 3/10563 3/6728 0/3835
?/? c.*4845A>G r.(=) p.(=) g.84347529A>G Copied from the Exome Variant Server SATL1_000003 1/10563 1/6728 0/3835
?/? c.*4848A>G r.(=) p.(=) g.84347532A>G Copied from the Exome Variant Server SATL1_000004 1/10563 0/6728 1/3835
?/? c.*4944_*4945del r.(=) p.(=) g.84347628_84347629del Copied from the Exome Variant Server SATL1_000005 1/10184 0/6470 1/3714
?/? c.*5452_*5455del r.(=) p.(=) g.84348136_84348139del Copied from the Exome Variant Server SATL1_000006 214/4326 12/2821 202/1505
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