| Mutation ID |
52 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359568 |
| Start |
46425840:46425840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7189C>T |
| AA Mutation |
p.Gln2397Ter(p.Q2397*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
53 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46346742:46346742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCNT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46398041:46398041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764560918
|
| CDS Mutation |
c.4474C>T |
| AA Mutation |
p.Arg1492Cys(p.R1492C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46416685:46416685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750262978
|
| CDS Mutation |
c.6767C>T |
| AA Mutation |
p.Ala2256Val(p.A2256V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46366645:46366645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2671C>A |
| AA Mutation |
p.Gln891Lys(p.Q891K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46412003:46412003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5930A>T |
| AA Mutation |
p.Gln1977Leu(p.Q1977L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46363631:46363631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2306T>G |
| AA Mutation |
p.Leu769Trp(p.L769W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46411365:46411365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773113520
|
| CDS Mutation |
c.5292C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46399688:46399688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4683A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359568 |
| Start |
46367004:46367004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752831769
|
| CDS Mutation |
c.3030G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|