| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16807950:16807951(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4103dupA |
| AA Mutation |
p.Asn1368LysfsTer41(p.N1368Kfs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant;stop_retained_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16815327:16815328(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.*5dupA |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NWD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16807664:16807664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758051323
|
| CDS Mutation |
c.3815C>T |
| AA Mutation |
p.Thr1272Met(p.T1272M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16750095:16750095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1453G>T |
| AA Mutation |
p.Asp485Tyr(p.D485Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16773239:16773239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780656197
|
| CDS Mutation |
c.2524G>A |
| AA Mutation |
p.Ala842Thr(p.A842T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16807870:16807870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4021T>C |
| AA Mutation |
p.Tyr1341His(p.Y1341H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16789023:16789023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112298174
|
| CDS Mutation |
c.2773G>A |
| AA Mutation |
p.Ala925Thr(p.A925T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16789140:16789140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2890C>A |
| AA Mutation |
p.Leu964Ile(p.L964I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16759242:16759242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1787C>T |
| AA Mutation |
p.Ala596Val(p.A596V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16789000:16789000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2750A>C |
| AA Mutation |
p.Lys917Thr(p.K917T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16800118:16800118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3692A>G |
| AA Mutation |
p.Lys1231Arg(p.K1231R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000552788 |
| Start |
16815030:16815030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4396A>G |
| AA Mutation |
p.Thr1466Ala(p.T1466A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|