| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000502935 |
| Start |
109880905:109880905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777918487
|
| CDS Mutation |
c.1068C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000502935 |
| Start |
109907690:109907690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.246+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> XPNPEP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000502935 |
| Start |
109878003:109878003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1238G>A |
| AA Mutation |
p.Arg413His(p.R413H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000502935 |
| Start |
109870012:109870012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1714G>T |
| AA Mutation |
p.Asp572Tyr(p.D572Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000502935 |
| Start |
109907735:109907735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765142495
|
| CDS Mutation |
c.202G>A |
| AA Mutation |
p.Glu68Lys(p.E68K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|