| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59774196:59774196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3312T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000400324 |
| Start |
60163617:60163617(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.150delC |
| AA Mutation |
p.Glu51ArgfsTer12(p.E51Rfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DIAPH3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59833231:59833231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749460279
|
| CDS Mutation |
c.2903C>T |
| AA Mutation |
p.Ser968Leu(p.S968L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
60010563:60010563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.878C>T |
| AA Mutation |
p.Ser293Phe(p.S293F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59861466:59861466(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2678A>T |
| AA Mutation |
p.Lys893Met(p.K893M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59666723:59666723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3443G>A |
| AA Mutation |
p.Arg1148Lys(p.R1148K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59983804:59983804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762394580
|
| CDS Mutation |
c.1445G>A |
| AA Mutation |
p.Arg482Gln(p.R482Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
60008606:60008606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.952A>C |
| AA Mutation |
p.Lys318Gln(p.K318Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400324 |
| Start |
60010655:60010655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.786A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59833230:59833230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2904G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000400324 |
| Start |
59980809:59980809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1531G>T |
| AA Mutation |
p.Glu511Ter(p.E511*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|