| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79127819:79127819(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.877delG |
| AA Mutation |
p.Val293SerfsTer65(p.V293Sfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79127890:79127890(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.947delC |
| AA Mutation |
p.Pro316GlnfsTer42(p.P316Qfs*42) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BHMT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79119262:79119262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147391267
|
| CDS Mutation |
c.170G>A |
| AA Mutation |
p.Arg57His(p.R57H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79126207:79126207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762015001
|
| CDS Mutation |
c.787G>A |
| AA Mutation |
p.Asp263Asn(p.D263N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79120387:79120387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111297335
|
| CDS Mutation |
c.323G>A |
| AA Mutation |
p.Arg108Gln(p.R108Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79126052:79126052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632C>A |
| AA Mutation |
p.Ser211Tyr(p.S211Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79131035:79131035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201314996
|
| CDS Mutation |
c.1140C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274353 |
| Start |
79127858:79127858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.912C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|