| Mutation ID |
44 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361762 |
| Start |
30723223:30723223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1801C>T |
| AA Mutation |
p.Gln601Ter(p.Q601*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361762 |
| Start |
30723610:30723611(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2193dupT |
| AA Mutation |
p.Val732CysfsTer4(p.V732Cfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDH7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361762 |
| Start |
30723917:30723917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142469151
|
| CDS Mutation |
c.2495C>T |
| AA Mutation |
p.Thr832Met(p.T832M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361762 |
| Start |
30722416:30722416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.994G>A |
| AA Mutation |
p.Ala332Thr(p.A332T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361762 |
| Start |
30723252:30723252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1830C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361762 |
| Start |
30721857:30721857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.435G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000511884 |
| Start |
31142756:31142756(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2721delG |
| AA Mutation |
p.Glu908LysfsTer33(p.E908Kfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|