| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371270 |
| Start |
95064886:95064886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs72558195
|
| CDS Mutation |
c.556C>T |
| AA Mutation |
p.Arg186Ter(p.R186*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95038987:95038988(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1200_1201insGTTCTCTC |
| AA Mutation |
p.Phe401ValfsTer16(p.F401Vfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP2C8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95037211:95037211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1390T>G |
| AA Mutation |
p.Leu464Val(p.L464V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95058361:95058361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs551515028
|
| CDS Mutation |
c.793G>A |
| AA Mutation |
p.Asp265Asn(p.D265N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95064885:95064885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543793530
|
| CDS Mutation |
c.557G>A |
| AA Mutation |
p.Arg186Gln(p.R186Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95045851:95045851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.920G>A |
| AA Mutation |
p.Arg307Lys(p.R307K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95037203:95037203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1398C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371270 |
| Start |
95042949:95042950(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1089dupC |
| AA Mutation |
p.Thr364HisfsTer10(p.T364Hfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|