All transcript variants in gene SORCS2

Information The variants shown are described using the NM_020777.2 transcript reference sequence.

447 entries on 5 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.417C>T r.(=) p.(=) g.7194790C>T Copied from the Exome Variant Server SORCS2_000001 10/12230 10/8182 0/4048
?/? c.480+21C>G r.(=) p.(=) g.7194874C>G Copied from the Exome Variant Server SORCS2_000002 159/11606 3/7852 156/3754
?/? c.480+22G>A r.(=) p.(=) g.7194875G>A Copied from the Exome Variant Server SORCS2_000003 106/11476 97/7770 9/3706
?/? c.480+29del r.(=) p.(=) g.7194882del Copied from the Exome Variant Server SORCS2_000004 110/10298 3/7004 107/3294
?/? c.481-66T>C r.(=) p.(=) g.7397949T>C Copied from the Exome Variant Server SORCS2_000005 1/4566 1/3182 0/1384
?/? c.481-46del r.(=) p.(=) g.7397969del Copied from the Exome Variant Server SORCS2_000006 73/11712 47/7954 26/3758
?/? c.481-43G>A r.(=) p.(=) g.7397972G>A Copied from the Exome Variant Server SORCS2_000007 1/12216 1/8310 0/3906
?/? c.481-9A>C r.(=) p.(=) g.7398006A>C Copied from the Exome Variant Server SORCS2_000008 4/12306 4/8342 0/3964
?/? c.481-8C>T r.(=) p.(=) g.7398007C>T Copied from the Exome Variant Server SORCS2_000009 2/12306 0/8342 2/3964
?/? c.547C>T r.(?) p.(Arg183Trp) g.7398081C>T Copied from the Exome Variant Server SORCS2_000010 1/12486 0/8384 1/4102
?/? c.548+12C>G r.(=) p.(=) g.7398094C>G Copied from the Exome Variant Server SORCS2_000011 116/12472 70/8388 46/4084
?/? c.548+19A>C r.(=) p.(=) g.7398101A>C Copied from the Exome Variant Server SORCS2_000012 57/12462 2/8384 55/4078
?/? c.548+25T>C r.(=) p.(=) g.7398107T>C Copied from the Exome Variant Server SORCS2_000013 5/12458 0/8382 5/4076
?/? c.548+41C>T r.(=) p.(=) g.7398123C>T Copied from the Exome Variant Server SORCS2_000014 4/12406 0/8356 4/4050
?/? c.548+46C>T r.(=) p.(=) g.7398128C>T Copied from the Exome Variant Server SORCS2_000015 234/12404 2/8350 232/4054
?/? c.548+36911C>T r.(=) p.(=) g.7434993C>T Copied from the Exome Variant Server PSAPL1_000001 264/11052 4/7422 260/3630
?/? c.548+36927G>A r.(=) p.(=) g.7435009G>A Copied from the Exome Variant Server PSAPL1_000002 1391/11554 1265/7730 126/3824
?/? c.548+36928C>G r.(=) p.(=) g.7435010C>G Copied from the Exome Variant Server PSAPL1_000003 168/11578 154/7740 14/3838
?/? c.548+36931G>A r.(=) p.(=) g.7435013G>A Copied from the Exome Variant Server PSAPL1_000004 1426/11686 1088/7818 338/3868
?/? c.548+36935G>T r.(=) p.(=) g.7435017G>T Copied from the Exome Variant Server PSAPL1_000005 1/11838 0/7920 1/3918
?/? c.548+36963G>A r.(?) p.(Ala521Val) g.7435045G>A Copied from the Exome Variant Server PSAPL1_000006 1/12398 1/8292 0/4106
?/? c.548+36975G>A r.(?) p.(Ala517Val) g.7435057G>A Copied from the Exome Variant Server PSAPL1_000007 9/12498 0/8358 9/4140
?/? c.548+36976C>T r.(?) p.(Ala517Thr) g.7435058C>T Copied from the Exome Variant Server PSAPL1_000008 1646/12512 1497/8364 149/4148
?/? c.548+37006T>A r.(?) p.(Lys507*) g.7435088T>A Copied from the Exome Variant Server PSAPL1_000009 1/12636 0/8440 1/4196
?/? c.548+37019C>T r.(=) p.(=) g.7435101C>T Copied from the Exome Variant Server PSAPL1_000010 1/12660 0/8446 1/4214
?/? c.548+37029C>T r.(?) p.(Cys499Tyr) g.7435111C>T Copied from the Exome Variant Server PSAPL1_000011 1/12612 1/8428 0/4184
?/? c.548+37040G>A r.(=) p.(=) g.7435122G>A Copied from the Exome Variant Server PSAPL1_000012 6/12544 6/8398 0/4146
?/? c.548+37043C>G r.(?) p.(Glu494Asp) g.7435125C>G Copied from the Exome Variant Server PSAPL1_000013 1/12528 1/8386 0/4142
?/? c.548+37070G>A r.(=) p.(=) g.7435152G>A Copied from the Exome Variant Server PSAPL1_000014 1/12336 1/8316 0/4020
?/? c.548+37088G>A r.(=) p.(=) g.7435170G>A Copied from the Exome Variant Server PSAPL1_000015 1/12258 0/8286 1/3972
?/? c.548+37096G>A r.(=) p.(=) g.7435178G>A Copied from the Exome Variant Server PSAPL1_000016 3/12234 0/8288 3/3946
?/? c.548+37097C>A r.(=) p.(=) g.7435179C>A Copied from the Exome Variant Server PSAPL1_000017 24/12236 0/8288 24/3948
?/? c.548+37112G>A r.(=) p.(=) g.7435194G>A Copied from the Exome Variant Server PSAPL1_000018 1940/12234 1450/8284 490/3950
?/? c.548+37114C>T r.(?) p.(Gly471Ser) g.7435196C>T Copied from the Exome Variant Server PSAPL1_000019 2/12246 2/8290 0/3956
?/? c.548+37162C>G r.(?) p.(Asp455His) g.7435244C>G Copied from the Exome Variant Server PSAPL1_000020 4/12574 4/8414 0/4160
?/? c.548+37176A>G r.(?) p.(Ile450Thr) g.7435258A>G Copied from the Exome Variant Server PSAPL1_000021 7/12636 6/8432 1/4204
?/? c.548+37181C>T r.(=) p.(=) g.7435263C>T Copied from the Exome Variant Server PSAPL1_000022 1/12658 1/8442 0/4216
?/? c.548+37201C>T r.(?) p.(Val442Ile) g.7435283C>T Copied from the Exome Variant Server PSAPL1_000023 5/12750 4/8478 1/4272
?/? c.548+37202G>A r.(=) p.(=) g.7435284G>A Copied from the Exome Variant Server PSAPL1_000024 2/12758 0/8478 2/4280
?/? c.548+37213A>C r.(?) p.(Cys438Gly) g.7435295A>C Copied from the Exome Variant Server PSAPL1_000025 1/12792 0/8494 1/4298
?/? c.548+37217G>T r.(=) p.(=) g.7435299G>T Copied from the Exome Variant Server PSAPL1_000026 1/12800 1/8496 0/4304
?/? c.548+37223A>G r.(=) p.(=) g.7435305A>G Copied from the Exome Variant Server PSAPL1_000027 569/12814 4/8512 565/4302
?/? c.548+37229C>G r.(=) p.(=) g.7435311C>G Copied from the Exome Variant Server PSAPL1_000029 1/12810 0/8508 1/4302
?/? c.548+37232C>T r.(=) p.(=) g.7435314C>T Copied from the Exome Variant Server PSAPL1_000031 1/12816 0/8510 1/4306
?/? c.548+37280G>C r.(=) p.(=) g.7435362G>C Copied from the Exome Variant Server PSAPL1_000033 19/12832 0/8514 19/4318
?/? c.548+37286C>T r.(=) p.(=) g.7435368C>T Copied from the Exome Variant Server PSAPL1_000036 55/12842 11/8516 44/4326
?/? c.548+37295C>T r.(=) p.(=) g.7435377C>T Copied from the Exome Variant Server PSAPL1_000038 149/12838 2/8514 147/4324
?/? c.548+37297A>G r.(=) p.(=) g.7435379A>G Copied from the Exome Variant Server PSAPL1_000040 12692/12832 8508/8510 4184/4322
?/? c.548+37313C>T r.(=) p.(=) g.7435395C>T Copied from the Exome Variant Server PSAPL1_000042 2/12796 2/8500 0/4296
?/? c.548+37314G>A r.(?) p.(Thr404Met) g.7435396G>A Copied from the Exome Variant Server PSAPL1_000044 1/12776 0/8496 1/4280
?/? c.548+37358C>T r.(=) p.(=) g.7435440C>T Copied from the Exome Variant Server PSAPL1_000046 9/12634 0/8422 9/4212
?/? c.548+37359G>A r.(?) p.(Ala389Val) g.7435441G>A Copied from the Exome Variant Server PSAPL1_000048 10/12622 0/8424 10/4198
?/? c.548+37361G>A r.(=) p.(=) g.7435443G>A Copied from the Exome Variant Server PSAPL1_000050 1747/12620 1343/8422 404/4198
?/? c.548+37376C>T r.(=) p.(=) g.7435458C>T Copied from the Exome Variant Server PSAPL1_000051 9/12594 0/8410 9/4184
?/? c.548+37399G>A r.(?) p.(His376Tyr) g.7435481G>A Copied from the Exome Variant Server PSAPL1_000028 1/12640 1/8428 0/4212
?/? c.548+37404G>T r.(?) p.(Ala374Glu) g.7435486G>T Copied from the Exome Variant Server PSAPL1_000030 1269/12650 1157/8432 112/4218
?/? c.548+37421G>A r.(=) p.(=) g.7435503G>A Copied from the Exome Variant Server PSAPL1_000032 1/12712 0/8464 1/4248
?/? c.548+37434C>T r.(?) p.(Arg364His) g.7435516C>T Copied from the Exome Variant Server PSAPL1_000034 29/12752 26/8486 3/4266
?/? c.548+37463G>A r.(=) p.(=) g.7435545G>A Copied from the Exome Variant Server PSAPL1_000035 1/12768 1/8494 0/4274
?/? c.548+37465T>A r.(?) p.(Ile354Phe) g.7435547T>A Copied from the Exome Variant Server PSAPL1_000037 1/12776 0/8500 1/4276
?/? c.548+37547C>T r.(=) p.(=) g.7435629C>T Copied from the Exome Variant Server PSAPL1_000039 5/12922 1/8548 4/4374
?/? c.548+37555C>T r.(?) p.(Val324Met) g.7435637C>T Copied from the Exome Variant Server PSAPL1_000041 2/12928 1/8558 1/4370
?/? c.548+37556G>A r.(=) p.(=) g.7435638G>A Copied from the Exome Variant Server PSAPL1_000043 1/12930 1/8560 0/4370
?/? c.548+37557C>T r.(?) p.(Arg323His) g.7435639C>T Copied from the Exome Variant Server PSAPL1_000045 1/12932 1/8562 0/4370
?/? c.548+37585C>G r.(?) p.(Glu314Gln) g.7435667C>G Copied from the Exome Variant Server PSAPL1_000047 1/12890 1/8540 0/4350
?/? c.548+37616C>T r.(=) p.(=) g.7435698C>T Copied from the Exome Variant Server PSAPL1_000049 5/12886 4/8550 1/4336
?/? c.548+37635C>T r.(?) p.(Cys297Tyr) g.7435717C>T Copied from the Exome Variant Server PSAPL1_000052 1/12868 0/8544 1/4324
?/? c.548+37639C>T r.(?) p.(Val296Met) g.7435721C>T Copied from the Exome Variant Server PSAPL1_000053 2206/12854 1659/8538 547/4316
?/? c.548+37645A>T r.(?) p.(Cys294Ser) g.7435727A>T Copied from the Exome Variant Server PSAPL1_000054 2/12840 0/8526 2/4314
?/? c.548+37672C>T r.(?) p.(Glu285Lys) g.7435754C>T Copied from the Exome Variant Server PSAPL1_000055 7/12722 1/8474 6/4248
?/? c.548+37715G>A r.(=) p.(=) g.7435797G>A Copied from the Exome Variant Server PSAPL1_000056 439/12454 387/8378 52/4076
?/? c.548+37723C>A r.(?) p.(Ala268Ser) g.7435805C>A Copied from the Exome Variant Server PSAPL1_000057 12/12406 3/8366 9/4040
?/? c.548+37732G>C r.(?) p.(Gln265Glu) g.7435814G>C Copied from the Exome Variant Server PSAPL1_000058 1/12360 1/8352 0/4008
?/? c.548+37741G>A r.(?) p.(Arg262Cys) g.7435823G>A Copied from the Exome Variant Server PSAPL1_000059 2/12328 2/8346 0/3982
?/? c.548+37743G>A r.(?) p.(Ala261Val) g.7435825G>A Copied from the Exome Variant Server PSAPL1_000060 6/12326 6/8344 0/3982
?/? c.548+37756G>C r.(?) p.(Leu257Val) g.7435838G>C Copied from the Exome Variant Server PSAPL1_000061 1/12210 1/8296 0/3914
?/? c.548+37793C>T r.(=) p.(=) g.7435875C>T Copied from the Exome Variant Server PSAPL1_000062 88/12058 24/8264 64/3794
?/? c.548+37794G>T r.(?) p.(Pro244Gln) g.7435876G>T Copied from the Exome Variant Server PSAPL1_000063 11/12082 0/8264 11/3818
?/? c.548+37798G>A r.(?) p.(Pro243Ser) g.7435880G>A Copied from the Exome Variant Server PSAPL1_000064 1/12126 1/8268 0/3858
?/? c.548+37804G>A r.(?) p.(Leu241Phe) g.7435886G>A Copied from the Exome Variant Server PSAPL1_000065 7/12164 0/8270 7/3894
?/? c.548+37805C>G r.(?) p.(Arg240Ser) g.7435887C>G Copied from the Exome Variant Server PSAPL1_000066 18/12164 15/8270 3/3894
?/? c.548+37819C>T r.(?) p.(Asp236Asn) g.7435901C>T Copied from the Exome Variant Server PSAPL1_000067 245/12222 222/8282 23/3940
?/? c.548+37848T>G r.(?) p.(Asn226Thr) g.7435930T>G Copied from the Exome Variant Server PSAPL1_000068 1/12342 1/8330 0/4012
?/? c.548+37861C>T r.(?) p.(Val222Ile) g.7435943C>T Copied from the Exome Variant Server PSAPL1_000069 2/12424 0/8348 2/4076
?/? c.548+37868G>A r.(=) p.(=) g.7435950G>A Copied from the Exome Variant Server PSAPL1_000070 17/12476 0/8372 17/4104
?/? c.548+37886A>G r.(=) p.(=) g.7435968A>G Copied from the Exome Variant Server PSAPL1_000071 2/12496 0/8380 2/4116
?/? c.548+37914A>G r.(?) p.(Leu204Ser) g.7435996A>G Copied from the Exome Variant Server PSAPL1_000072 157/12488 2/8370 155/4118
?/? c.548+37929C>T r.(?) p.(Arg199Gln) g.7436011C>T Copied from the Exome Variant Server PSAPL1_000073 2/12456 2/8362 0/4094
?/? c.548+37977A>G r.(?) p.(Leu183Pro) g.7436059A>G Copied from the Exome Variant Server PSAPL1_000074 4/12250 3/8280 1/3970
?/? c.548+37991C>T r.(=) p.(=) g.7436073C>T Copied from the Exome Variant Server PSAPL1_000075 2072/12182 1608/8264 464/3918
?/? c.548+37998C>T r.(?) p.(Arg176His) g.7436080C>T Copied from the Exome Variant Server PSAPL1_000076 38/12152 37/8254 1/3898
?/? c.548+37999G>A r.(?) p.(Arg176Cys) g.7436081G>A Copied from the Exome Variant Server PSAPL1_000077 1/12172 1/8268 0/3904
?/? c.548+38033C>T r.(=) p.(=) g.7436115C>T Copied from the Exome Variant Server PSAPL1_000078 2/12288 1/8304 1/3984
?/? c.548+38044C>T r.(?) p.(Ala161Thr) g.7436126C>T Copied from the Exome Variant Server PSAPL1_000080 9/12294 0/8302 9/3992
?/? c.548+38069T>C r.(=) p.(=) g.7436151T>C Copied from the Exome Variant Server PSAPL1_000082 548/12294 3/8308 545/3986
?/? c.548+38100G>A r.(?) p.(Pro142Leu) g.7436182G>A Copied from the Exome Variant Server PSAPL1_000084 5/12342 0/8328 5/4014
?/? c.548+38126C>T r.(=) p.(=) g.7436208C>T Copied from the Exome Variant Server PSAPL1_000086 1/12406 0/8348 1/4058
?/? c.548+38157C>T r.(?) p.(Arg123His) g.7436239C>T Copied from the Exome Variant Server PSAPL1_000089 1737/12430 1577/8352 160/4078
?/? c.548+38171G>A r.(=) p.(=) g.7436253G>A Copied from the Exome Variant Server PSAPL1_000091 2/12516 2/8376 0/4140
?/? c.548+38212C>T r.(?) p.(Ala105Thr) g.7436294C>T Copied from the Exome Variant Server PSAPL1_000092 6/12608 0/8444 6/4164
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