| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518325 |
| Start |
141384469:141384469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1570C>T |
| AA Mutation |
p.Gln524Ter(p.Q524*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518325 |
| Start |
141383963:141383963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1064C>A |
| AA Mutation |
p.Ser355Ter(p.S355*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCDHGA7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141384610:141384610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1711G>T |
| AA Mutation |
p.Gly571Cys(p.G571C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141383125:141383125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757654723
|
| CDS Mutation |
c.226G>A |
| AA Mutation |
p.Ala76Thr(p.A76T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141383298:141383298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.399C>A |
| AA Mutation |
p.Phe133Leu(p.F133L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141385037:141385037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2138C>T |
| AA Mutation |
p.Ala713Val(p.A713V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141384964:141384964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2065C>A |
| AA Mutation |
p.Leu689Ile(p.L689I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141383391:141383391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764733462
|
| CDS Mutation |
c.492G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141383259:141383259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768704302
|
| CDS Mutation |
c.360C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518325 |
| Start |
141384945:141384945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2046C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|