All transcript variants in gene COMT

Information The variants shown are described using the NM_000754.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-249C>T r.(=) p.(=) g.19929263C>T Copied from the Exome Variant Server COMT_000001 8/6250 6/4498 2/1752
?/? c.1-30C>T r.(=) p.(=) g.19950020C>T Copied from the Exome Variant Server COMT_000002 3/12870 0/8548 3/4322
?/? c.1-28C>T r.(=) p.(=) g.19950022C>T Copied from the Exome Variant Server COMT_000003 1/12858 1/8542 0/4316
?/? c.1-10C>T r.(=) p.(=) g.19950040C>T Copied from the Exome Variant Server COMT_000004 2/12648 0/8378 2/4270
?/? c.1-9G>A r.(=) p.(=) g.19950041G>A Copied from the Exome Variant Server COMT_000005 1/12608 0/8352 1/4256
?/? c.6G>A r.(=) p.(=) g.19950055G>A Copied from the Exome Variant Server COMT_000006 2/12622 1/8364 1/4258
?/? c.94G>A r.(?) p.(Gly32Ser) g.19950143G>A Copied from the Exome Variant Server COMT_000007 3/12982 0/8592 3/4390
?/? c.117C>T r.(=) p.(=) g.19950166C>T Copied from the Exome Variant Server COMT_000008 20/12972 20/8582 0/4390
?/? c.186C>T r.(=) p.(=) g.19950235C>T Copied from the Exome Variant Server COMT_000009 5983/13004 4497/8600 1486/4404
?/? c.201G>A r.(=) p.(=) g.19950250G>A Copied from the Exome Variant Server COMT_000010 1/13006 0/8600 1/4406
?/? c.213C>T r.(=) p.(=) g.19950262C>T Copied from the Exome Variant Server COMT_000011 3/13006 3/8600 0/4406
?/? c.214G>T r.(?) p.(Ala72Ser) g.19950263G>T Copied from the Exome Variant Server COMT_000012 11/13006 8/8600 3/4406
?/? c.219G>A r.(=) p.(=) g.19950268G>A Copied from the Exome Variant Server COMT_000013 829/13006 39/8600 790/4406
?/? c.247T>C r.(?) p.(Cys83Arg) g.19950296T>C Copied from the Exome Variant Server COMT_000014 2/13006 0/8600 2/4406
?/? c.289+9C>T r.(=) p.(=) g.19950347C>T Copied from the Exome Variant Server COMT_000015 8/13006 0/8600 8/4406
?/? c.289+10G>A r.(=) p.(=) g.19950348G>A Copied from the Exome Variant Server COMT_000016 1/13006 1/8600 0/4406
?/? c.289+31T>C r.(=) p.(=) g.19950369T>C Copied from the Exome Variant Server COMT_000017 1/13006 0/8600 1/4406
?/? c.290-32C>T r.(=) p.(=) g.19951057C>T Copied from the Exome Variant Server COMT_000018 3/13004 3/8600 0/4404
?/? c.290-19C>G r.(=) p.(=) g.19951070C>G Copied from the Exome Variant Server COMT_000019 1/13002 0/8600 1/4402
?/? c.290-4A>G r.spl? p.? g.19951085A>G Copied from the Exome Variant Server COMT_000020 3/13004 3/8600 0/4404
?/? c.304G>A r.(?) p.(Ala102Thr) g.19951103G>A Copied from the Exome Variant Server COMT_000021 35/13006 3/8600 32/4406
?/? c.318G>C r.(?) p.(Glu106Asp) g.19951117G>C Copied from the Exome Variant Server COMT_000022 2/13006 2/8600 0/4406
?/? c.354C>T r.(=) p.(=) g.19951153C>T Copied from the Exome Variant Server COMT_000023 1/13006 1/8600 0/4406
?/? c.373C>T r.(?) p.(Arg125Cys) g.19951172C>T Copied from the Exome Variant Server COMT_000024 2/13006 2/8600 0/4406
?/? c.402G>A r.(=) p.(=) g.19951201G>A Copied from the Exome Variant Server COMT_000025 2/13006 2/8600 0/4406
?/? c.408C>G r.(=) p.(=) g.19951207C>G Copied from the Exome Variant Server COMT_000026 4260/13006 3396/8600 864/4406
?/? c.414C>T r.(=) p.(=) g.19951213C>T Copied from the Exome Variant Server COMT_000027 1/13006 0/8600 1/4406
?/? c.417C>T r.(=) p.(=) g.19951216C>T Copied from the Exome Variant Server COMT_000028 3/13006 1/8600 2/4406
?/? c.421A>G r.(?) p.(Ile141Val) g.19951220A>G Copied from the Exome Variant Server COMT_000029 11/13006 0/8600 11/4406
?/? c.428C>G r.(?) p.(Pro143Arg) g.19951227C>G Copied from the Exome Variant Server COMT_000030 5/13006 0/8600 5/4406
?/? c.438C>T r.(=) p.(=) g.19951237C>T Copied from the Exome Variant Server COMT_000031 372/13006 3/8600 369/4406
?/? c.448C>A r.(?) p.(Gln150Lys) g.19951247C>A Copied from the Exome Variant Server COMT_000032 1/13006 1/8600 0/4406
?/? c.465C>T r.(=) p.(=) g.19951264C>T Copied from the Exome Variant Server COMT_000033 2/13006 2/8600 0/4406
?/? c.472G>A r.(?) p.(Val158Met) g.19951271G>A Copied from the Exome Variant Server COMT_000034 5872/13006 4485/8600 1387/4406
?/? c.483+17C>T N/A N/A g.19951299C>T Copied from the Exome Variant Server COMT_000035 1/13002 1/8598 0/4404
?/? c.483+41C>T N/A N/A g.19951323C>T Copied from the Exome Variant Server COMT_000036 2/12992 0/8598 2/4394
?/? c.484-49G>A r.(=) p.(=) g.19951642G>A Copied from the Exome Variant Server COMT_000037 1/13006 0/8600 1/4406
?/? c.484-40_484-37del r.(=) p.(=) g.19951651_19951654del Copied from the Exome Variant Server COMT_000038 7/12518 6/8254 1/4264
?/? c.484-27C>T r.(=) p.(=) g.19951664C>T Copied from the Exome Variant Server COMT_000039 1/13006 1/8600 0/4406
?/? c.519C>G r.(?) p.(Ile173Met) g.19951726C>G Copied from the Exome Variant Server COMT_000040 1/13006 1/8600 0/4406
?/? c.520C>T r.(?) p.(Pro174Ser) g.19951727C>T Copied from the Exome Variant Server COMT_000041 1/13006 1/8600 0/4406
?/? c.528_530del r.(?) p.(Lys179del) g.19951735_19951737del Copied from the Exome Variant Server COMT_000042 24/12518 20/8254 4/4264
?/? c.576C>T r.(=) p.(=) g.19951783C>T Copied from the Exome Variant Server COMT_000043 1/13006 0/8600 1/4406
?/? c.586C>T r.(?) p.(Arg196Trp) g.19951793C>T Copied from the Exome Variant Server COMT_000044 1/13006 1/8600 0/4406
?/? c.596C>T r.(?) p.(Pro199Leu) g.19951803C>T Copied from the Exome Variant Server COMT_000045 5/13006 4/8600 1/4406
?/? c.597G>A r.(=) p.(=) g.19951804G>A Copied from the Exome Variant Server COMT_000046 579/13006 178/8600 401/4406
?/? c.602C>T r.(?) p.(Thr201Met) g.19951809C>T Copied from the Exome Variant Server COMT_000047 1/13006 1/8600 0/4406
?/? c.609C>T r.(=) p.(=) g.19951816C>T Copied from the Exome Variant Server COMT_000048 135/13006 124/8600 11/4406
?/? c.612G>C r.(?) p.(Leu204Phe) g.19951819G>C Copied from the Exome Variant Server COMT_000049 1/13006 1/8600 0/4406
?/? c.615+25C>T r.(=) p.(=) g.19951847C>T Copied from the Exome Variant Server COMT_000050 2/13006 0/8600 2/4406
?/? c.615+32G>A r.(=) p.(=) g.19951854G>A Copied from the Exome Variant Server COMT_000051 1/13006 1/8600 0/4406
?/? c.615+45G>C r.(=) p.(=) g.19951867G>C Copied from the Exome Variant Server COMT_000052 1/13006 1/8600 0/4406
?/? c.615+48_615+51del r.(=) p.(=) g.19951870_19951873del Copied from the Exome Variant Server COMT_000053 5/12518 1/8254 4/4264
?/? c.616-45G>C r.(=) p.(=) g.19956014G>C Copied from the Exome Variant Server COMT_000054 638/12990 585/8592 53/4398
?/? c.616-39T>G r.(=) p.(=) g.19956020T>G Copied from the Exome Variant Server COMT_000055 2/13002 0/8596 2/4406
?/? c.616-14C>T r.(=) p.(=) g.19956045C>T Copied from the Exome Variant Server COMT_000056 1/13006 1/8600 0/4406
?/? c.631C>T r.(?) p.(Arg211Trp) g.19956074C>T Copied from the Exome Variant Server COMT_000057 1/13006 0/8600 1/4406
?/? c.653C>A r.(?) p.(Ala218Asp) g.19956096C>A Copied from the Exome Variant Server COMT_000058 1/13006 1/8600 0/4406
?/? c.700C>T r.(?) p.(Arg234Cys) g.19956143C>T Copied from the Exome Variant Server COMT_000059 4/13006 3/8600 1/4406
?/? c.702C>T r.(=) p.(=) g.19956145C>T Copied from the Exome Variant Server COMT_000060 1/13006 1/8600 0/4406
?/? c.737C>A r.(?) p.(Ser246*) g.19956180C>A Copied from the Exome Variant Server COMT_000061 1/13006 1/8600 0/4406
?/? c.778G>A r.(?) p.(Ala260Thr) g.19956221G>A Copied from the Exome Variant Server COMT_000062 1/13006 1/8600 0/4406
?/? c.792C>A r.(=) p.(=) g.19956235C>A Copied from the Exome Variant Server COMT_000063 3/13002 2/8600 1/4402
?/? c.*11del r.(=) p.(=) g.19956270del Copied from the Exome Variant Server COMT_000064 11/12480 5/8244 6/4236
?/? c.*12G>A r.(=) p.(=) g.19956271G>A Copied from the Exome Variant Server COMT_000065 2/12970 1/8590 1/4380
?/? c.*17C>G r.(=) p.(=) g.19956276C>G Copied from the Exome Variant Server COMT_000066 13/12928 13/8558 0/4370
?/? c.*18C>G r.(=) p.(=) g.19956277C>G Copied from the Exome Variant Server COMT_000067 19/12926 2/8556 17/4370
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