| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158502127:158502128(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2470dupC |
| AA Mutation |
p.Gln824ProfsTer63(p.Q824Pfs*63) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
44 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158493571:158493571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1632-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TULP4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158429841:158429841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.487G>A |
| AA Mutation |
p.Glu163Lys(p.E163K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158503163:158503163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3500C>A |
| AA Mutation |
p.Pro1167His(p.P1167H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158481115:158481115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763279596
|
| CDS Mutation |
c.1312G>A |
| AA Mutation |
p.Glu438Lys(p.E438K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158489615:158489615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1514C>A |
| AA Mutation |
p.Ser505Tyr(p.S505Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158498738:158498738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1940A>G |
| AA Mutation |
p.Lys647Arg(p.K647R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367097 |
| Start |
158503923:158503923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4260G>T |
| AA Mutation |
p.Met1420Ile(p.M1420I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367097 |
| Start |
158429859:158429859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.505C>T |
| AA Mutation |
p.Gln169Ter(p.Q169*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|