| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274341 |
| Start |
83652615:83652615(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.310delA |
| AA Mutation |
p.Thr104ProfsTer11(p.T104Pfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274341 |
| Start |
83652614:83652615(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.310dupA |
| AA Mutation |
p.Thr104AsnfsTer8(p.T104Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HAPLN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274341 |
| Start |
83652668:83652668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115901495
|
| CDS Mutation |
c.257C>T |
| AA Mutation |
p.Ser86Leu(p.S86L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274341 |
| Start |
83641623:83641623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.938G>T |
| AA Mutation |
p.Ser313Ile(p.S313I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274341 |
| Start |
83644565:83644565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201656281
|
| CDS Mutation |
c.573C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274341 |
| Start |
83652732:83652732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193C>T |
| AA Mutation |
p.Arg65Ter(p.R65*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|