| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000220809 |
| Start |
42187946:42187946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.324C>A |
| AA Mutation |
p.Cys108Ter(p.C108*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220809 |
| Start |
42182781:42182782(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740dupA |
| AA Mutation |
p.Val248GlyfsTer18(p.V248Gfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLAT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220809 |
| Start |
42180023:42180023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1266G>T |
| AA Mutation |
p.Glu422Asp(p.E422D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220809 |
| Start |
42180647:42180647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151006962
|
| CDS Mutation |
c.928C>T |
| AA Mutation |
p.Arg310Cys(p.R310C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000220809 |
| Start |
42188017:42188017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.254-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|