| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264344 |
| Start |
88728559:88728559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3046A>T |
| AA Mutation |
p.Arg1016Ter(p.R1016*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264344 |
| Start |
88749842:88749842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377672753
|
| CDS Mutation |
c.2008C>T |
| AA Mutation |
p.Arg670Ter(p.R670*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FAM13A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88938096:88938096(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.751A>G |
| AA Mutation |
p.Ile251Val(p.I251V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88768022:88768022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1496G>T |
| AA Mutation |
p.Arg499Ile(p.R499I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88906408:88906408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.814G>T |
| AA Mutation |
p.Asp272Tyr(p.D272Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264344 |
| Start |
89029636:89029636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114577372
|
| CDS Mutation |
c.41C>T |
| AA Mutation |
p.Ala14Val(p.A14V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88768034:88768034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753700549
|
| CDS Mutation |
c.1484G>A |
| AA Mutation |
p.Arg495Gln(p.R495Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88790609:88790609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1068C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264344 |
| Start |
88728575:88728575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3030G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264344 |
| Start |
88749785:88749785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2065G>T |
| AA Mutation |
p.Glu689Ter(p.E689*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|