| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000370995 |
| Start |
67424976:67424979(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.606-2_607delAGTT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000370995 |
| Start |
67426263:67426264(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.335_336insCAACTT |
| AA Mutation |
p.Arg112delinsSerAsnLeu(p.R112delinsSNL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SERBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370995 |
| Start |
67420183:67420183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.822G>T |
| AA Mutation |
p.Glu274Asp(p.E274D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370995 |
| Start |
67426179:67426179(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777029948
|
| CDS Mutation |
c.420G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370995 |
| Start |
67425210:67425210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.478C>T |
| AA Mutation |
p.Arg160Ter(p.R160*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370995 |
| Start |
67426169:67426169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.430G>T |
| AA Mutation |
p.Glu144Ter(p.E144*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|