| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398978 |
| Start |
69930447:69930447(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770933186
|
| CDS Mutation |
c.1550delC |
| AA Mutation |
p.Pro517GlnfsTer9(p.P517Qfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000398978 |
| Start |
69880547:69880547(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.485delC |
| AA Mutation |
p.Pro162LeufsTer33(p.P162Lfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL13A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398978 |
| Start |
69930407:69930407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371347973
|
| CDS Mutation |
c.1505G>A |
| AA Mutation |
p.Arg502His(p.R502H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398978 |
| Start |
69822435:69822435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.361C>G |
| AA Mutation |
p.Pro121Ala(p.P121A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398978 |
| Start |
69941005:69941005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374512468
|
| CDS Mutation |
c.1863C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|