| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50064090:50064091(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752236693
|
| CDS Mutation |
c.226dupC |
| AA Mutation |
p.Arg76ProfsTer27(p.R76Pfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50088367:50088367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.*31+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGA3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50087843:50087843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3019G>T |
| AA Mutation |
p.Gly1007Trp(p.G1007W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50075687:50075687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1626C>A |
| AA Mutation |
p.Phe542Leu(p.F542L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320031 |
| Start |
50077070:50077070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779256330
|
| CDS Mutation |
c.2019G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320031 |
| Start |
50081328:50081328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757967715
|
| CDS Mutation |
c.2839C>T |
| AA Mutation |
p.Arg947Ter(p.R947*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320031 |
| Start |
50078115:50078115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2209C>T |
| AA Mutation |
p.Gln737Ter(p.Q737*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|