| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330807 |
| Start |
55021099:55021099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.591T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330807 |
| Start |
55021201:55021201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALAS2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330807 |
| Start |
55015622:55015622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752853849
|
| CDS Mutation |
c.1124G>A |
| AA Mutation |
p.Arg375His(p.R375H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330807 |
| Start |
55017539:55017539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.950C>A |
| AA Mutation |
p.Ser317Tyr(p.S317Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330807 |
| Start |
55014792:55014792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1392G>T |
| AA Mutation |
p.Arg464Ser(p.R464S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330807 |
| Start |
55014842:55014842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1342C>T |
| AA Mutation |
p.Arg448Ter(p.R448*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|