| Mutation ID |
55 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103026214:103026214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.897+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102940435:102940435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3277-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL11A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102997124:102997124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2197G>T |
| AA Mutation |
p.Gly733Cys(p.G733C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102921547:102921547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3679A>G |
| AA Mutation |
p.Arg1227Gly(p.R1227G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102987700:102987700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2435C>A |
| AA Mutation |
p.Pro812His(p.P812H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102923386:102923386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3604C>A |
| AA Mutation |
p.Leu1202Met(p.L1202M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102940332:102940332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3379G>T |
| AA Mutation |
p.Asp1127Tyr(p.D1127Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103022849:103022849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372387693
|
| CDS Mutation |
c.1138G>A |
| AA Mutation |
p.Glu380Lys(p.E380K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103074753:103074753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.516G>T |
| AA Mutation |
p.Glu172Asp(p.E172D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103074644:103074644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.625A>T |
| AA Mutation |
p.Arg209Trp(p.R209W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370096 |
| Start |
102878161:102878161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5279G>T |
| AA Mutation |
p.Arg1760Ile(p.R1760I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103008511:103008511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1635G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000370096 |
| Start |
103025523:103025523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.988G>T |
| AA Mutation |
p.Glu330Ter(p.E330*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|