| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355739 |
| Start |
102858374:102858374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.628G>T |
| AA Mutation |
p.Glu210Ter(p.E210*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102862797:102862798(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1648_1649insTCTGTCCTTAATCATA |
| AA Mutation |
p.Cys550PhefsTer4(p.C550Ffs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERCC5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102858283:102858283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537C>A |
| AA Mutation |
p.Phe179Leu(p.F179L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102872385:102872385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2866G>A |
| AA Mutation |
p.Asp956Asn(p.D956N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102866767:102866767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770975661
|
| CDS Mutation |
c.2455C>T |
| AA Mutation |
p.Arg819Trp(p.R819W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102865755:102865755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752012589
|
| CDS Mutation |
c.2043C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102866766:102866766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138715586
|
| CDS Mutation |
c.2454G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102865767:102865767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2055G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355739 |
| Start |
102875591:102875591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3249A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|