| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109243264:109243264(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1497delT |
| AA Mutation |
p.Phe499LeufsTer41(p.F499Lfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000239690 |
| Start |
109296536:109296536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753197210
|
| CDS Mutation |
c.307C>T |
| AA Mutation |
p.Arg103Ter(p.R103*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUDCD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109271079:109271079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1225G>A |
| AA Mutation |
p.Glu409Lys(p.E409K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109271006:109271006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1298T>C |
| AA Mutation |
p.Val433Ala(p.V433A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109245397:109245397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1384G>T |
| AA Mutation |
p.Asp462Tyr(p.D462Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109293427:109293427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs578034407
|
| CDS Mutation |
c.557G>A |
| AA Mutation |
p.Arg186Gln(p.R186Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000239690 |
| Start |
109281168:109281168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.828T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|