| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341529 |
| Start |
66402979:66402980(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs781713547
|
| CDS Mutation |
c.2172dupC |
| AA Mutation |
p.Tyr725LeufsTer30(p.Y725Lfs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341529 |
| Start |
66401013:66401014(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1834_1835insG |
| AA Mutation |
p.Thr612SerfsTer143(p.T612Sfs*143) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDH5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341529 |
| Start |
66400813:66400813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764490337
|
| CDS Mutation |
c.1634G>A |
| AA Mutation |
p.Arg545Gln(p.R545Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341529 |
| Start |
66400876:66400876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769543281
|
| CDS Mutation |
c.1697C>T |
| AA Mutation |
p.Thr566Met(p.T566M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341529 |
| Start |
66387034:66387034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.436G>A |
| AA Mutation |
p.Asp146Asn(p.D146N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|