| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617146 |
| Start |
38578769:38578769(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.45delC |
| AA Mutation |
p.Met16CysfsTer44(p.M16Cfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000617146 |
| Start |
38564172:38564172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Arg163Ter(p.R163*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SRCIN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617146 |
| Start |
38563433:38563433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.630C>G |
| AA Mutation |
p.Ile210Met(p.I210M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617146 |
| Start |
38552846:38552846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2211G>T |
| AA Mutation |
p.Glu737Asp(p.E737D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617146 |
| Start |
38552032:38552032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780941487
|
| CDS Mutation |
c.2581G>A |
| AA Mutation |
p.Glu861Lys(p.E861K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000617146 |
| Start |
38578634:38578634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.180C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|