| Mutation ID |
36 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371497 |
| Start |
53253930:53253930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.472C>T |
| AA Mutation |
p.Arg158Ter(p.R158*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53255905:53255906(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2454dupC |
| AA Mutation |
p.Met819HisfsTer11(p.M819Hfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TSHZ2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53256459:53256459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3001C>T |
| AA Mutation |
p.Arg1001Trp(p.R1001W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53254122:53254122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141167641
|
| CDS Mutation |
c.664G>A |
| AA Mutation |
p.Ala222Thr(p.A222T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53254302:53254302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780826702
|
| CDS Mutation |
c.844G>A |
| AA Mutation |
p.Asp282Asn(p.D282N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53254428:53254428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138844500
|
| CDS Mutation |
c.970G>A |
| AA Mutation |
p.Val324Ile(p.V324I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53255928:53255928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2470G>T |
| AA Mutation |
p.Asp824Tyr(p.D824Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53256417:53256417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749112887
|
| CDS Mutation |
c.2959G>A |
| AA Mutation |
p.Glu987Lys(p.E987K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53255494:53255494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2036G>T |
| AA Mutation |
p.Gly679Val(p.G679V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53255987:53255987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2529C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53254508:53254508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1050C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53254892:53254892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs183008464
|
| CDS Mutation |
c.1434C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371497 |
| Start |
53255396:53255396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs536653149
|
| CDS Mutation |
c.1938C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|