| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55489684:55489684(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1044delC |
| AA Mutation |
p.Cys349ValfsTer72(p.C349Vfs*72) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000219070 |
| Start |
55484116:55484116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.481C>T |
| AA Mutation |
p.Arg161Ter(p.R161*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MMP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55493275:55493275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1454T>A |
| AA Mutation |
p.Ile485Asn(p.I485N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55484108:55484108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368486758
|
| CDS Mutation |
c.473G>A |
| AA Mutation |
p.Arg158Gln(p.R158Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55483104:55483104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.349C>T |
| AA Mutation |
p.Pro117Ser(p.P117S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55484117:55484117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Arg161Gln(p.R161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55485396:55485396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778038179
|
| CDS Mutation |
c.627C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55485378:55485378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.609A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000219070 |
| Start |
55485658:55485658(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.713T>A |
| AA Mutation |
p.Leu238Ter(p.L238*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|