| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330793 |
| Start |
74544819:74544819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs59461308
|
| CDS Mutation |
c.190C>T |
| AA Mutation |
p.Arg64Ter(p.R64*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000330793 |
| Start |
74544897:74544898(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.111_112insCTG |
| AA Mutation |
p.Gly37_Ser38insLeu(p.G37_S38insL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CD300C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000330793 |
| Start |
74542987:74542987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.401C>T |
| AA Mutation |
p.Ala134Val(p.A134V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330793 |
| Start |
74544776:74544776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.233G>T |
| AA Mutation |
p.Arg78Met(p.R78M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330793 |
| Start |
74544619:74544619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs546382422
|
| CDS Mutation |
c.390C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|