| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3693493:3693494(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3461dupC |
| AA Mutation |
p.Gly1155TrpfsTer82(p.G1155Wfs*82) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3698134:3698134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1787-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SIGLEC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3690037:3690037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143128555
|
| CDS Mutation |
c.4819G>A |
| AA Mutation |
p.Asp1607Asn(p.D1607N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3692709:3692709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3842G>T |
| AA Mutation |
p.Cys1281Phe(p.C1281F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3692724:3692724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3827C>A |
| AA Mutation |
p.Pro1276His(p.P1276H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3701446:3701446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375088205
|
| CDS Mutation |
c.1424G>A |
| AA Mutation |
p.Arg475His(p.R475H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3694325:3694325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750548827
|
| CDS Mutation |
c.3152G>A |
| AA Mutation |
p.Arg1051His(p.R1051H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3691581:3691581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4350G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344754 |
| Start |
3706357:3706357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|