| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61325688:61325688(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.685delG |
| AA Mutation |
p.Ala229ProfsTer74(p.A229Pfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61325687:61325688(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs757472327
|
| CDS Mutation |
c.685dupG |
| AA Mutation |
p.Ala229GlyfsTer15(p.A229Gfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DDB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61302690:61302690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3004G>A |
| AA Mutation |
p.Glu1002Lys(p.E1002K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61331614:61331614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.139G>A |
| AA Mutation |
p.Glu47Lys(p.E47K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61323048:61323048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.968T>G |
| AA Mutation |
p.Phe323Cys(p.F323C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61322338:61322338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146385795
|
| CDS Mutation |
c.1080C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301764 |
| Start |
61326825:61326825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.618T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|