| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518721 |
| Start |
130115672:130115672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2128C>T |
| AA Mutation |
p.Arg710Ter(p.R710*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000518721 |
| Start |
130060933:130060953(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2818_2838delCCCCCAAAGCCCACAGAACTG |
| AA Mutation |
p.Pro940_Leu946del(p.P940_L946del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130180827:130180827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.584G>A |
| AA Mutation |
p.Arg195His(p.R195H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130092065:130092065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2480C>A |
| AA Mutation |
p.Pro827His(p.P827H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130214666:130214666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295C>A |
| AA Mutation |
p.Leu99Ile(p.L99I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130112205:130112205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2290C>T |
| AA Mutation |
p.Arg764Trp(p.R764W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130118538:130118538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1745T>G |
| AA Mutation |
p.Val582Gly(p.V582G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130057983:130057983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764209195
|
| CDS Mutation |
c.3286G>A |
| AA Mutation |
p.Val1096Ile(p.V1096I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130060840:130060840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2931C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130112170:130112170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747583877
|
| CDS Mutation |
c.2325C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000518721 |
| Start |
130079900:130079900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2642+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|