| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55174613:55174613(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.32delC |
| AA Mutation |
p.Pro11LeufsTer11(p.P11Lfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370862 |
| Start |
55282311:55282311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777851245
|
| CDS Mutation |
c.1192C>T |
| AA Mutation |
p.Arg398Ter(p.R398*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HCRTR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55263803:55263803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199660644
|
| CDS Mutation |
c.743G>A |
| AA Mutation |
p.Arg248His(p.R248H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55255329:55255329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.596G>C |
| AA Mutation |
p.Gly199Ala(p.G199A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55255142:55255142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.409T>C |
| AA Mutation |
p.Ser137Pro(p.S137P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55280416:55280416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758823526
|
| CDS Mutation |
c.1077G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55174782:55174782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.195C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55248802:55248802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.387G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370862 |
| Start |
55174613:55174613(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.32delC |
| AA Mutation |
p.Pro11LeufsTer11(p.P11Lfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|