| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139813703:139813703(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.772delG |
| AA Mutation |
p.Asp258MetfsTer13(p.D258Mfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139813564:139813564(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631delG |
| AA Mutation |
p.Ala211GlnfsTer25(p.A211Qfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PSD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139840029:139840029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1971G>T |
| AA Mutation |
p.Glu657Asp(p.E657D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139822768:139822768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753531914
|
| CDS Mutation |
c.1253C>T |
| AA Mutation |
p.Thr418Met(p.T418M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139813717:139813717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.780T>G |
| AA Mutation |
p.Asp260Glu(p.D260E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139837653:139837653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370966922
|
| CDS Mutation |
c.1694C>T |
| AA Mutation |
p.Ser565Leu(p.S565L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139837193:139837193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1620G>T |
| AA Mutation |
p.Lys540Asn(p.K540N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274710 |
| Start |
139817550:139817550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747518596
|
| CDS Mutation |
c.1086C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|