| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360359 |
| Start |
34981834:34981834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.580C>T |
| AA Mutation |
p.Arg194Ter(p.R194*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360359 |
| Start |
35080992:35080992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2545-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANKS1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360359 |
| Start |
34994353:34994353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777690613
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Glu452Lys(p.E452K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360359 |
| Start |
34983167:34983167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.863G>A |
| AA Mutation |
p.Arg288Gln(p.R288Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360359 |
| Start |
34985204:34985204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147778746
|
| CDS Mutation |
c.1135G>A |
| AA Mutation |
p.Gly379Arg(p.G379R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360359 |
| Start |
35081054:35081054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs541932194
|
| CDS Mutation |
c.2605C>T |
| AA Mutation |
p.Arg869Trp(p.R869W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360359 |
| Start |
35083428:35083428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2919G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360359 |
| Start |
35079662:35079662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773477732
|
| CDS Mutation |
c.2430C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360359 |
| Start |
35078638:35078638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377225487
|
| CDS Mutation |
c.2265G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360359 |
| Start |
34981840:34981840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.586G>T |
| AA Mutation |
p.Glu196Ter(p.E196*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|