| Mutation ID |
26 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130342670:130342670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.78+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130361381:130361381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761727169
|
| CDS Mutation |
c.1866+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIWIL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130355558:130355558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1295A>G |
| AA Mutation |
p.Asp432Gly(p.D432G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130342632:130342632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.41G>A |
| AA Mutation |
p.Arg14His(p.R14H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130367144:130367144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs117506395
|
| CDS Mutation |
c.2207C>T |
| AA Mutation |
p.Thr736Met(p.T736M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130349386:130349386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882A>C |
| AA Mutation |
p.Lys294Asn(p.K294N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130354929:130354929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1213G>T |
| AA Mutation |
p.Asp405Tyr(p.D405Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130356982:130356982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1469T>C |
| AA Mutation |
p.Val490Ala(p.V490A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245255 |
| Start |
130346512:130346512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766051497
|
| CDS Mutation |
c.459C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|