| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203440114:203440115(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3075dupC |
| AA Mutation |
p.Lys1026GlnfsTer47(p.K1026Qfs*47) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203491213:203491213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.226+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RAPH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203489776:203489776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.540A>T |
| AA Mutation |
p.Lys180Asn(p.K180N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203441334:203441334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1856A>G |
| AA Mutation |
p.Tyr619Cys(p.Y619C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203455491:203455491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1248T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203489971:203489971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774565613
|
| CDS Mutation |
c.345G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203441132:203441132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766451242
|
| CDS Mutation |
c.2058G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319170 |
| Start |
203454496:203454496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773284961
|
| CDS Mutation |
c.1347C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|