All transcript variants in gene SV2C

Information The variants shown are described using the NM_014979.1 transcript reference sequence.

163 entries on 2 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.-21T>C r.(=) p.(=) g.75427555T>C Copied from the Exome Variant Server SV2C_000001 1/12090 0/8284 1/3806
?/? c.9C>A r.(?) p.(Asp3Glu) g.75427584C>A Copied from the Exome Variant Server SV2C_000002 1/12174 1/8314 0/3860
?/? c.11C>G r.(?) p.(Ser4Cys) g.75427586C>G Copied from the Exome Variant Server SV2C_000003 1/12172 1/8312 0/3860
?/? c.48del r.(?) p.(Asp17Thrfs*6) g.75427623del Copied from the Exome Variant Server SV2C_000004 5/11686 0/7956 5/3730
?/? c.52A>C r.(?) p.(Ile18Leu) g.75427627A>C Copied from the Exome Variant Server SV2C_000005 11/12208 0/8314 11/3894
?/? c.66G>A r.(=) p.(=) g.75427641G>A Copied from the Exome Variant Server SV2C_000006 5/12228 0/8322 5/3906
?/? c.82A>C r.(?) p.(Lys28Gln) g.75427657A>C Copied from the Exome Variant Server SV2C_000007 1/12210 0/8300 1/3910
?/? c.87G>A r.(=) p.(=) g.75427662G>A Copied from the Exome Variant Server SV2C_000008 1/12222 0/8302 1/3920
?/? c.106C>T r.(?) p.(Arg36*) g.75427681C>T Copied from the Exome Variant Server SV2C_000009 2/12224 2/8296 0/3928
?/? c.107G>A r.(?) p.(Arg36Gln) g.75427682G>A Copied from the Exome Variant Server SV2C_000010 1/12216 1/8286 0/3930
?/? c.210C>T r.(=) p.(=) g.75427785C>T Copied from the Exome Variant Server SV2C_000011 2/12590 2/8436 0/4154
?/? c.243G>A r.(=) p.(=) g.75427818G>A Copied from the Exome Variant Server SV2C_000012 1/12750 1/8516 0/4234
?/? c.245A>G r.(?) p.(His82Arg) g.75427820A>G Copied from the Exome Variant Server SV2C_000013 1/12754 1/8520 0/4234
?/? c.266A>G r.(?) p.(Tyr89Cys) g.75427841A>G Copied from the Exome Variant Server SV2C_000015 2/12758 0/8514 2/4244
?/? c.290C>T r.(?) p.(Pro97Leu) g.75427865C>T Copied from the Exome Variant Server SV2C_000017 1/12740 0/8514 1/4226
?/? c.300C>T r.(=) p.(=) g.75427875C>T Copied from the Exome Variant Server SV2C_000019 2/12730 2/8504 0/4226
?/? c.360G>A N/A N/A g.75427935G>A Copied from the Exome Variant Server SV2C_000021 7833/12520 6388/8410 1445/4110
?/? c.391G>A r.(?) p.(Glu131Lys) g.75427966G>A Copied from the Exome Variant Server SV2C_000023 1/12518 0/8398 1/4120
?/? c.436G>A r.(?) p.(Gly146Ser) g.75428011G>A Copied from the Exome Variant Server SV2C_000025 3/12462 0/8372 3/4090
?/? c.446G>A r.(?) p.(Arg149His) g.75428021G>A Copied from the Exome Variant Server SV2C_000027 3/12436 3/8358 0/4078
?/? c.495C>T r.(=) p.(=) g.75428070C>T Copied from the Exome Variant Server SV2C_000029 154/12452 1/8374 153/4078
?/? c.499G>A r.(?) p.(Val167Ile) g.75428074G>A Copied from the Exome Variant Server SV2C_000031 27/12484 0/8386 27/4098
?/? c.522C>T r.(=) p.(=) g.75428097C>T Copied from the Exome Variant Server SV2C_000033 3/12540 0/8422 3/4118
?/? c.523G>A r.(?) p.(Val175Met) g.75428098G>A Copied from the Exome Variant Server SV2C_000035 2/12544 1/8424 1/4120
?/? c.533G>C r.(?) p.(Ser178Thr) g.75428108G>C Copied from the Exome Variant Server SV2C_000037 1/12550 1/8414 0/4136
?/? c.555C>T r.(=) p.(=) g.75428130C>T Copied from the Exome Variant Server SV2C_000014 1/12538 1/8434 0/4104
?/? c.580+9G>A r.(=) p.(=) g.75428164G>A Copied from the Exome Variant Server SV2C_000016 27/12514 0/8414 27/4100
?/? c.580+26A>G r.(=) p.(=) g.75428181A>G Copied from the Exome Variant Server SV2C_000018 1/12422 0/8378 1/4044
?/? c.580+35A>T r.(=) p.(=) g.75428190A>T Copied from the Exome Variant Server SV2C_000020 2/12368 2/8348 0/4020
?/? c.581-21223C>T r.(=) p.(=) g.75469521C>T Copied from the Exome Variant Server SV2C_000022 1/13006 0/8600 1/4406
?/? c.581-21222G>A r.(=) p.(=) g.75469522G>A Copied from the Exome Variant Server SV2C_000024 9/13006 8/8600 1/4406
?/? c.581-21205A>T r.(=) p.(=) g.75469539A>T Copied from the Exome Variant Server SV2C_000026 2/13006 0/8600 2/4406
?/? c.581-21204T>G r.(=) p.(=) g.75469540T>G Copied from the Exome Variant Server SV2C_000028 32/13006 28/8600 4/4406
?/? c.581-21195C>T r.(=) p.(=) g.75469549C>T Copied from the Exome Variant Server SV2C_000030 1/13006 1/8600 0/4406
?/? c.581-21170T>G r.(=) p.(=) g.75469574T>G Copied from the Exome Variant Server SV2C_000032 2/13006 2/8600 0/4406
?/? c.581-21150T>C r.(=) p.(=) g.75469594T>C Copied from the Exome Variant Server SV2C_000034 3/13000 0/8594 3/4406
?/? c.581-21117T>C r.(=) p.(=) g.75469627T>C Copied from the Exome Variant Server SV2C_000036 1/13000 0/8594 1/4406
?/? c.581-21102C>T r.(=) p.(=) g.75469642C>T Copied from the Exome Variant Server SV2C_000038 1/13002 1/8596 0/4406
?/? c.581-21075C>A r.(=) p.(=) g.75469669C>A Copied from the Exome Variant Server SV2C_000039 1/13006 1/8600 0/4406
?/? c.581-21073A>G r.(=) p.(=) g.75469671A>G Copied from the Exome Variant Server SV2C_000040 4/13006 0/8600 4/4406
?/? c.581-21060C>T r.(=) p.(=) g.75469684C>T Copied from the Exome Variant Server SV2C_000041 1/13006 1/8600 0/4406
?/? c.581-20994G>A r.(=) p.(=) g.75469750G>A Copied from the Exome Variant Server SV2C_000042 1/13006 0/8600 1/4406
?/? c.581-20979A>G r.(=) p.(=) g.75469765A>G Copied from the Exome Variant Server SV2C_000043 1/13006 0/8600 1/4406
?/? c.581-20966C>T r.(=) p.(=) g.75469778C>T Copied from the Exome Variant Server SV2C_000044 1503/13006 1150/8600 353/4406
?/? c.581-20965C>T r.(=) p.(=) g.75469779C>T Copied from the Exome Variant Server SV2C_000045 10/13006 8/8600 2/4406
?/? c.581-20948G>A r.(=) p.(=) g.75469796G>A Copied from the Exome Variant Server SV2C_000046 224/13006 203/8600 21/4406
?/? c.581-20937_581-20936insC r.(=) p.(=) g.75469807_75469808insC Copied from the Exome Variant Server SV2C_000047 134/12518 123/8252 11/4266
?/? c.581-20929_581-20928insTA r.(=) p.(=) g.75469815_75469816insTA Copied from the Exome Variant Server SV2C_000048 153/12518 140/8252 13/4266
?/? c.581-20918C>T r.(=) p.(=) g.75469826C>T Copied from the Exome Variant Server SV2C_000049 1/13006 0/8600 1/4406
?/? c.581-20874C>T r.(=) p.(=) g.75469870C>T Copied from the Exome Variant Server SV2C_000050 2/13006 2/8600 0/4406
?/? c.581-20866A>G r.(=) p.(=) g.75469878A>G Copied from the Exome Variant Server SV2C_000051 1/13006 1/8600 0/4406
?/? c.581-20859C>T r.(=) p.(=) g.75469885C>T Copied from the Exome Variant Server SV2C_000052 1568/13006 1208/8600 360/4406
?/? c.581-20857C>T r.(=) p.(=) g.75469887C>T Copied from the Exome Variant Server SV2C_000053 1/13006 0/8600 1/4406
?/? c.581-20855A>G r.(=) p.(=) g.75469889A>G Copied from the Exome Variant Server SV2C_000054 315/13006 274/8600 41/4406
?/? c.581-20839G>A r.(=) p.(=) g.75469905G>A Copied from the Exome Variant Server SV2C_000055 9/13006 1/8600 8/4406
?/? c.581-20819A>G r.(=) p.(=) g.75469925A>G Copied from the Exome Variant Server SV2C_000056 1/13006 1/8600 0/4406
?/? c.581-20812C>T r.(=) p.(=) g.75469932C>T Copied from the Exome Variant Server SV2C_000057 2/13006 1/8600 1/4406
?/? c.581-20800T>C r.(=) p.(=) g.75469944T>C Copied from the Exome Variant Server SV2C_000058 2/13006 1/8600 1/4406
?/? c.581-20775C>T r.(=) p.(=) g.75469969C>T Copied from the Exome Variant Server SV2C_000059 21/13006 1/8600 20/4406
?/? c.581-20756G>A r.(=) p.(=) g.75469988G>A Copied from the Exome Variant Server SV2C_000060 2/13006 1/8600 1/4406
?/? c.581-20740C>T r.(=) p.(=) g.75470004C>T Copied from the Exome Variant Server SV2C_000061 1/13006 0/8600 1/4406
?/? c.581-20739G>T r.(=) p.(=) g.75470005G>T Copied from the Exome Variant Server SV2C_000062 1/13006 1/8600 0/4406
?/? c.581-20726T>C r.(=) p.(=) g.75470018T>C Copied from the Exome Variant Server SV2C_000063 1/13006 1/8600 0/4406
?/? c.581-20704G>A r.(=) p.(=) g.75470040G>A Copied from the Exome Variant Server SV2C_000064 3/13006 3/8600 0/4406
?/? c.581-20693G>A r.(=) p.(=) g.75470051G>A Copied from the Exome Variant Server SV2C_000065 5/13006 0/8600 5/4406
?/? c.581-20685C>T r.(=) p.(=) g.75470059C>T Copied from the Exome Variant Server SV2C_000066 9/7272 0/4618 9/2654
?/? c.590T>G r.(?) p.(Val197Gly) g.75490753T>G Copied from the Exome Variant Server SV2C_000067 4/12322 0/8320 4/4002
?/? c.595C>T r.(?) p.(Leu199Phe) g.75490758C>T Copied from the Exome Variant Server SV2C_000068 1/12312 1/8316 0/3996
?/? c.675G>A r.(?) p.(Met225Ile) g.75490838G>A Copied from the Exome Variant Server SV2C_000069 2/12222 0/8270 2/3952
?/? c.690C>A r.(?) p.(Phe230Leu) g.75490853C>A Copied from the Exome Variant Server SV2C_000070 11/12156 0/8264 11/3892
?/? c.710T>C r.(?) p.(Phe237Ser) g.75490873T>C Copied from the Exome Variant Server SV2C_000071 1/12044 1/8238 0/3806
?/? c.743G>A r.(?) p.(Arg248His) g.75490906G>A Copied from the Exome Variant Server SV2C_000072 2/11888 2/8188 0/3700
?/? c.762-38A>G r.(=) p.(=) g.75505523A>G Copied from the Exome Variant Server SV2C_000073 15/12706 13/8488 2/4218
?/? c.762-26C>T r.(=) p.(=) g.75505535C>T Copied from the Exome Variant Server SV2C_000074 1/12728 0/8508 1/4220
?/? c.762-13T>C r.(=) p.(=) g.75505548T>C Copied from the Exome Variant Server SV2C_000075 1/12770 1/8526 0/4244
?/? c.876C>T r.(=) p.(=) g.75505675C>T Copied from the Exome Variant Server SV2C_000076 2/13000 1/8600 1/4400
?/? c.886A>C r.(?) p.(Met296Leu) g.75505685A>C Copied from the Exome Variant Server SV2C_000077 1/13000 1/8600 0/4400
?/? c.905C>T r.(?) p.(Pro302Leu) g.75505704C>T Copied from the Exome Variant Server SV2C_000078 1/12994 0/8600 1/4394
?/? c.906G>A r.(=) p.(=) g.75505705G>A Copied from the Exome Variant Server SV2C_000079 4/12994 2/8598 2/4396
?/? c.912C>T r.(=) p.(=) g.75505711C>T Copied from the Exome Variant Server SV2C_000080 1/12986 1/8598 0/4388
?/? c.913G>A r.(?) p.(Gly305Arg) g.75505712G>A Copied from the Exome Variant Server SV2C_000081 1/12986 0/8598 1/4388
?/? c.913+45C>T r.(=) p.(=) g.75505757C>T Copied from the Exome Variant Server SV2C_000082 1/12912 0/8566 1/4346
?/? c.913+51G>T r.(=) p.(=) g.75505763G>T Copied from the Exome Variant Server SV2C_000083 29/12892 0/8562 29/4330
?/? c.952A>C r.(?) p.(Ser318Arg) g.75581025A>C Copied from the Exome Variant Server SV2C_000084 1/12782 1/8498 0/4284
?/? c.972C>T r.(=) p.(=) g.75581045C>T Copied from the Exome Variant Server SV2C_000085 1/12824 0/8520 1/4304
?/? c.975C>T r.(=) p.(=) g.75581048C>T Copied from the Exome Variant Server SV2C_000086 1/12806 1/8512 0/4294
?/? c.993C>T r.(=) p.(=) g.75581066C>T Copied from the Exome Variant Server SV2C_000087 1/12772 0/8506 1/4266
?/? c.995C>T r.(?) p.(Ser332Phe) g.75581068C>T Copied from the Exome Variant Server SV2C_000088 67/12760 66/8498 1/4262
?/? c.1000G>T r.(?) p.(Val334Leu) g.75581073G>T Copied from the Exome Variant Server SV2C_000089 1/12708 1/8486 0/4222
?/? c.1018A>T r.(?) p.(Met340Leu) g.75581091A>T Copied from the Exome Variant Server SV2C_000090 1/12630 1/8450 0/4180
?/? c.1048-34T>C r.(=) p.(=) g.75581572T>C Copied from the Exome Variant Server SV2C_000091 1/12412 0/8404 1/4008
?/? c.1048-28C>T r.(=) p.(=) g.75581578C>T Copied from the Exome Variant Server SV2C_000092 1/12424 0/8408 1/4016
?/? c.1048-12C>G r.(=) p.(=) g.75581594C>G Copied from the Exome Variant Server SV2C_000093 1/12462 1/8424 0/4038
?/? c.1095C>T r.(=) p.(=) g.75581653C>T Copied from the Exome Variant Server SV2C_000094 4/12556 1/8468 3/4088
?/? c.1114G>A r.(?) p.(Gly372Ser) g.75581672G>A Copied from the Exome Variant Server SV2C_000095 1/12538 0/8448 1/4090
?/? c.1131C>T r.(=) p.(=) g.75581689C>T Copied from the Exome Variant Server SV2C_000096 3/12480 0/8414 3/4066
?/? c.1137+44C>T r.(=) p.(=) g.75581739C>T Copied from the Exome Variant Server SV2C_000097 1/12114 0/8258 1/3856
?/? c.1138-25C>T r.(=) p.(=) g.75587021C>T Copied from the Exome Variant Server SV2C_000098 28/12780 1/8538 27/4242
?/? c.1138-24G>A r.(=) p.(=) g.75587022G>A Copied from the Exome Variant Server SV2C_000099 1/12744 1/8526 0/4218
?/? c.1138G>A r.(?) p.(Val380Ile) g.75587046G>A Copied from the Exome Variant Server SV2C_000100 1/12548 0/8472 1/4076
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