| Mutation ID |
47 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110211646:110211646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.468+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110178062:110178062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2626+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL4A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110192869:110192869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369960952
|
| CDS Mutation |
c.1426C>T |
| AA Mutation |
p.Arg476Trp(p.R476W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110176643:110176643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2951G>A |
| AA Mutation |
p.Gly984Glu(p.G984E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110161280:110161280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4552G>A |
| AA Mutation |
p.Asp1518Asn(p.D1518N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110211889:110211889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.421C>T |
| AA Mutation |
p.Pro141Ser(p.P141S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110162251:110162251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199586038
|
| CDS Mutation |
c.4441C>T |
| AA Mutation |
p.Arg1481Trp(p.R1481W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110195038:110195038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570739274
|
| CDS Mutation |
c.1366G>A |
| AA Mutation |
p.Glu456Lys(p.E456K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375820 |
| Start |
110174522:110174522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3330T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|