All transcript variants in gene GPATCH2

Information The variants shown are described using the NM_018040.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12C>T r.(=) p.(=) g.217804325G>A Copied from the Exome Variant Server GPATCH2_000079 8443/12884 5461/8548 2982/4336
?/? c.56G>C r.(?) p.(Trp19Ser) g.217804258C>G Copied from the Exome Variant Server GPATCH2_000078 4/12930 4/8568 0/4362
?/? c.56+6G>A r.(=) p.(=) g.217804252C>T Copied from the Exome Variant Server GPATCH2_000077 1/12932 1/8572 0/4360
?/? c.56+14C>T r.(=) p.(=) g.217804244G>A Copied from the Exome Variant Server GPATCH2_000076 15/12936 0/8570 15/4366
?/? c.56+48T>C r.(=) p.(=) g.217804210A>G Copied from the Exome Variant Server GPATCH2_000075 33/12954 0/8572 33/4382
?/? c.56+50C>A r.(=) p.(=) g.217804208G>T Copied from the Exome Variant Server GPATCH2_000074 800/12948 46/8568 754/4380
?/? c.97G>A r.(?) p.(Val33Ile) g.217793801C>T Copied from the Exome Variant Server GPATCH2_000073 1/13006 1/8600 0/4406
?/? c.180T>C r.(=) p.(=) g.217793718A>G Copied from the Exome Variant Server GPATCH2_000072 114/13006 0/8600 114/4406
?/? c.217C>T r.(?) p.(Arg73Trp) g.217793681G>A Copied from the Exome Variant Server GPATCH2_000071 1/13006 1/8600 0/4406
?/? c.247G>C r.(?) p.(Glu83Gln) g.217793651C>G Copied from the Exome Variant Server GPATCH2_000070 5/13006 4/8600 1/4406
?/? c.262T>G r.(?) p.(Leu88Val) g.217793636A>C Copied from the Exome Variant Server GPATCH2_000069 1/13006 1/8600 0/4406
?/? c.288A>G r.(=) p.(=) g.217793610T>C Copied from the Exome Variant Server GPATCH2_000068 51/13006 45/8600 6/4406
?/? c.300C>G r.(?) p.(Ser100Arg) g.217793598G>C Copied from the Exome Variant Server GPATCH2_000067 1/13006 0/8600 1/4406
?/? c.414G>A r.(=) p.(=) g.217793484C>T Copied from the Exome Variant Server GPATCH2_000066 98/13006 93/8600 5/4406
?/? c.464A>C r.(?) p.(Asn155Thr) g.217793434T>G Copied from the Exome Variant Server GPATCH2_000065 6/13006 0/8600 6/4406
?/? c.465T>C r.(=) p.(=) g.217793433A>G Copied from the Exome Variant Server GPATCH2_000064 1/13006 1/8600 0/4406
?/? c.476G>A r.(?) p.(Arg159His) g.217793422C>T Copied from the Exome Variant Server GPATCH2_000063 1/13006 1/8600 0/4406
?/? c.492A>G r.(=) p.(=) g.217793406T>C Copied from the Exome Variant Server GPATCH2_000062 1/13006 0/8600 1/4406
?/? c.523A>T r.(?) p.(Ile175Phe) g.217793375T>A Copied from the Exome Variant Server GPATCH2_000061 5/13006 4/8600 1/4406
?/? c.599A>G r.(?) p.(Gln200Arg) g.217793299T>C Copied from the Exome Variant Server GPATCH2_000060 1/13006 0/8600 1/4406
?/? c.635G>C r.(?) p.(Arg212Thr) g.217793263C>G Copied from the Exome Variant Server GPATCH2_000059 1/13006 0/8600 1/4406
?/? c.655C>G r.(?) p.(Gln219Glu) g.217793243G>C Copied from the Exome Variant Server GPATCH2_000058 1/13006 1/8600 0/4406
?/? c.673G>A r.(?) p.(Asp225Asn) g.217793225C>T Copied from the Exome Variant Server GPATCH2_000057 22/13006 8/8600 14/4406
?/? c.717T>A r.(?) p.(Asn239Lys) g.217793181A>T Copied from the Exome Variant Server GPATCH2_000056 2/13006 2/8600 0/4406
?/? c.728T>C r.(?) p.(Met243Thr) g.217793170A>G Copied from the Exome Variant Server GPATCH2_000055 2/13006 0/8600 2/4406
?/? c.764_765insT r.(?) p.(Met255Ilefs*3) g.217793133_217793134insA Copied from the Exome Variant Server GPATCH2_000054 1/12518 1/8252 0/4266
?/? c.773+12A>T r.(=) p.(=) g.217793113T>A Copied from the Exome Variant Server GPATCH2_000053 2/13002 2/8598 0/4404
?/? c.773+30T>C r.(=) p.(=) g.217793095A>G Copied from the Exome Variant Server GPATCH2_000052 61/12896 1/8532 60/4364
?/? c.794G>A r.(?) p.(Ser265Asn) g.217787524C>T Copied from the Exome Variant Server GPATCH2_000051 1/13006 0/8600 1/4406
?/? c.802G>A r.(?) p.(Ala268Thr) g.217787516C>T Copied from the Exome Variant Server GPATCH2_000050 1/13006 1/8600 0/4406
?/? c.830G>C r.(?) p.(Arg277Thr) g.217787488C>G Copied from the Exome Variant Server GPATCH2_000049 2/13006 0/8600 2/4406
?/? c.832C>T r.(?) p.(Gln278*) g.217787486G>A Copied from the Exome Variant Server GPATCH2_000048 1/13006 0/8600 1/4406
?/? c.836-20_836-19insGG r.(=) p.(=) g.217784432_217784433insCC Copied from the Exome Variant Server GPATCH2_000047 4/12520 3/8254 1/4266
?/? c.836-19del r.(=) p.(=) g.217784432del Copied from the Exome Variant Server GPATCH2_000046 275/12520 201/8254 74/4266
?/? c.836-19dup r.(=) p.(=) g.217784432dup Copied from the Exome Variant Server GPATCH2_000045 780/12520 462/8254 318/4266
?/? c.836-10A>G r.(=) p.(=) g.217784423T>C Copied from the Exome Variant Server GPATCH2_000044 3/13006 0/8600 3/4406
?/? c.836-5C>T r.spl? p.? g.217784418G>A Copied from the Exome Variant Server GPATCH2_000043 1/13006 1/8600 0/4406
?/? c.843_845del r.(?) p.(Asp281del) g.217784404_217784406del Copied from the Exome Variant Server GPATCH2_000042 1/12520 0/8254 1/4266
?/? c.857G>C r.(?) p.(Trp286Ser) g.217784392C>G Copied from the Exome Variant Server GPATCH2_000041 1/13006 1/8600 0/4406
?/? c.873A>G r.(=) p.(=) g.217784376T>C Copied from the Exome Variant Server GPATCH2_000040 2/13006 2/8600 0/4406
?/? c.928C>A r.(?) p.(Pro310Thr) g.217784321G>T Copied from the Exome Variant Server GPATCH2_000039 1/13006 1/8600 0/4406
?/? c.931A>G r.(?) p.(Thr311Ala) g.217784318T>C Copied from the Exome Variant Server GPATCH2_000038 1/13006 1/8600 0/4406
?/? c.942C>T r.(=) p.(=) g.217784307G>A Copied from the Exome Variant Server GPATCH2_000037 1/13006 1/8600 0/4406
?/? c.1003C>T r.(?) p.(His335Tyr) g.217784246G>A Copied from the Exome Variant Server GPATCH2_000036 1/13006 1/8600 0/4406
?/? c.1018+34G>C r.(=) p.(=) g.217784197C>G Copied from the Exome Variant Server GPATCH2_000035 1/13006 0/8600 1/4406
?/? c.1019-51A>G r.(=) p.(=) g.217783793T>C Copied from the Exome Variant Server GPATCH2_000034 2/13002 1/8596 1/4406
?/? c.1019-45C>A r.(=) p.(=) g.217783787G>T Copied from the Exome Variant Server GPATCH2_000033 8/13000 0/8596 8/4404
?/? c.1040G>A r.(?) p.(Arg347His) g.217783721C>T Copied from the Exome Variant Server GPATCH2_000032 1/13006 1/8600 0/4406
?/? c.1066A>G r.(?) p.(Ile356Val) g.217783695T>C Copied from the Exome Variant Server GPATCH2_000031 1/13006 0/8600 1/4406
?/? c.1150G>T r.(?) p.(Asp384Tyr) g.217688180C>A Copied from the Exome Variant Server GPATCH2_000030 1/13006 1/8600 0/4406
?/? c.1167-34G>C r.(=) p.(=) g.217671771C>G Copied from the Exome Variant Server GPATCH2_000029 3501/13006 2775/8600 726/4406
?/? c.1206+11T>C r.(=) p.(=) g.217671687A>G Copied from the Exome Variant Server GPATCH2_000028 6/13006 6/8600 0/4406
?/? c.1206+28G>A r.(=) p.(=) g.217671670C>T Copied from the Exome Variant Server GPATCH2_000027 1/13006 0/8600 1/4406
?/? c.1206+61C>A r.(=) p.(=) g.217671637G>T Copied from the Exome Variant Server GPATCH2_000026 11/4564 9/3180 2/1384
?/? c.1207-20T>C r.(=) p.(=) g.217665112A>G Copied from the Exome Variant Server GPATCH2_000025 1/13002 1/8598 0/4404
?/? c.1207-19G>A r.(=) p.(=) g.217665111C>T Copied from the Exome Variant Server GPATCH2_000024 1/13002 1/8598 0/4404
?/? c.1218G>A r.(=) p.(=) g.217665081C>T Copied from the Exome Variant Server GPATCH2_000023 3/13004 0/8600 3/4404
?/? c.1229G>A r.(?) p.(Arg410Gln) g.217665070C>T Copied from the Exome Variant Server GPATCH2_000022 1/13004 0/8600 1/4404
?/? c.1277+20T>C r.(=) p.(=) g.217665002A>G Copied from the Exome Variant Server GPATCH2_000021 1/13006 1/8600 0/4406
?/? c.1278-13T>A r.(=) p.(=) g.217622692A>T Copied from the Exome Variant Server GPATCH2_000020 1/13006 0/8600 1/4406
?/? c.1296A>G r.(=) p.(=) g.217622661T>C Copied from the Exome Variant Server GPATCH2_000019 1/13006 1/8600 0/4406
?/? c.1299A>G r.(=) p.(=) g.217622658T>C Copied from the Exome Variant Server GPATCH2_000018 1/13006 0/8600 1/4406
?/? c.1310C>T r.(?) p.(Thr437Met) g.217622647G>A Copied from the Exome Variant Server GPATCH2_000017 1/13006 1/8600 0/4406
?/? c.1311G>A r.(=) p.(=) g.217622646C>T Copied from the Exome Variant Server GPATCH2_000016 2/13006 2/8600 0/4406
?/? c.1360_1362del r.(?) p.(Thr454del) g.217622595_217622597del Copied from the Exome Variant Server GPATCH2_000015 116/12520 56/8254 60/4266
?/? c.1366+15G>T r.(=) p.(=) g.217622576C>A Copied from the Exome Variant Server GPATCH2_000014 1/13006 1/8600 0/4406
?/? c.1367-27A>C r.(=) p.(=) g.217604734T>G Copied from the Exome Variant Server GPATCH2_000013 1/13006 0/8600 1/4406
?/? c.1367-19T>C r.(=) p.(=) g.217604726A>G Copied from the Exome Variant Server GPATCH2_000012 1/13006 1/8600 0/4406
?/? c.1367-15G>T r.(=) p.(=) g.217604722C>A Copied from the Exome Variant Server GPATCH2_000011 17/13006 0/8600 17/4406
?/? c.1420A>G r.(?) p.(Met474Val) g.217604654T>C Copied from the Exome Variant Server GPATCH2_000010 378/13006 338/8600 40/4406
?/? c.1442C>T r.(?) p.(Thr481Met) g.217604632G>A Copied from the Exome Variant Server GPATCH2_000009 64/13006 58/8600 6/4406
?/? c.1489A>T r.(?) p.(Ile497Phe) g.217604585T>A Copied from the Exome Variant Server GPATCH2_000008 1/13006 0/8600 1/4406
?/? c.1500G>T r.(?) p.(Met500Ile) g.217604574C>A Copied from the Exome Variant Server GPATCH2_000007 5/13006 0/8600 5/4406
?/? c.1510A>G r.(?) p.(Lys504Glu) g.217604564T>C Copied from the Exome Variant Server GPATCH2_000006 1/13006 1/8600 0/4406
?/? c.1539A>G r.(=) p.(=) g.217604535T>C Copied from the Exome Variant Server GPATCH2_000005 120/13006 3/8600 117/4406
?/? c.1552G>A r.(?) p.(Ala518Thr) g.217604522C>T Copied from the Exome Variant Server GPATCH2_000004 6/13006 6/8600 0/4406
?/? c.1568A>G r.(?) p.(Asn523Ser) g.217604506T>C Copied from the Exome Variant Server GPATCH2_000003 3/13006 3/8600 0/4406
?/? c.1581C>T r.(=) p.(=) g.217604493G>A Copied from the Exome Variant Server GPATCH2_000002 6/13006 0/8600 6/4406
?/? c.1582G>A r.(?) p.(Ala528Thr) g.217604492C>T Copied from the Exome Variant Server GPATCH2_000001 198/13006 2/8600 196/4406
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