| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298139 |
| Start |
31150354:31150354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3586G>T |
| AA Mutation |
p.Glu1196Ter(p.E1196*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000298139 |
| Start |
31087860:31087861(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1530_1532dupAGA |
| AA Mutation |
p.Glu510dup(p.E510dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> WRN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298139 |
| Start |
31147396:31147396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3492G>T |
| AA Mutation |
p.Arg1164Ser(p.R1164S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298139 |
| Start |
31141590:31141590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3128T>C |
| AA Mutation |
p.Leu1043Pro(p.L1043P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298139 |
| Start |
31081039:31081039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759046519
|
| CDS Mutation |
c.1012G>A |
| AA Mutation |
p.Val338Ile(p.V338I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298139 |
| Start |
31083748:31083748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1319G>A |
| AA Mutation |
p.Ser440Asn(p.S440N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298139 |
| Start |
31090499:31090499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1687G>T |
| AA Mutation |
p.Glu563Ter(p.E563*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000298139 |
| Start |
31085165:31085165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1351-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|