| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30511137:30511138(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2786+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000356798 |
| Start |
30472839:30472839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2T>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGAL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30494251:30494251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145951975
|
| CDS Mutation |
c.1253C>T |
| AA Mutation |
p.Ser418Leu(p.S418L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30499214:30499214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1973C>A |
| AA Mutation |
p.Ser658Tyr(p.S658Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30505428:30505428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2332G>C |
| AA Mutation |
p.Glu778Gln(p.E778Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30479363:30479363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.478C>A |
| AA Mutation |
p.Leu160Met(p.L160M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30504187:30504187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2158G>T |
| AA Mutation |
p.Asp720Tyr(p.D720Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30504248:30504248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765514196
|
| CDS Mutation |
c.2219C>T |
| AA Mutation |
p.Pro740Leu(p.P740L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30510432:30510432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2580T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30504249:30504249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754571775
|
| CDS Mutation |
c.2220G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30496558:30496558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147713219
|
| CDS Mutation |
c.1824C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356798 |
| Start |
30496192:30496192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148420170
|
| CDS Mutation |
c.1599C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356798 |
| Start |
30496442:30496442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1708G>T |
| AA Mutation |
p.Glu570Ter(p.E570*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|