| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39382765:39382765(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1194delT |
| AA Mutation |
p.Phe398LeufsTer15(p.F398Lfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320816 |
| Start |
39392436:39392436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.259G>T |
| AA Mutation |
p.Gly87Ter(p.G87*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DAB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39377094:39377094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1693A>G |
| AA Mutation |
p.Thr565Ala(p.T565A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39376691:39376691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2096A>G |
| AA Mutation |
p.His699Arg(p.H699R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39383229:39383229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374921039
|
| CDS Mutation |
c.730G>A |
| AA Mutation |
p.Asp244Asn(p.D244N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39376783:39376783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142209579
|
| CDS Mutation |
c.2004G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320816 |
| Start |
39383029:39383029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200633845
|
| CDS Mutation |
c.930G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|