| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131263828:131263829(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2375dupA |
| AA Mutation |
p.Asn792LysfsTer34(p.N792Kfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000356920 |
| Start |
131252937:131252938(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1616_1617insTGA |
| AA Mutation |
p.Ile539_Glu540insAsp(p.I539_E540insD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POTEE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131218550:131218550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.148G>A |
| AA Mutation |
p.Asp50Asn(p.D50N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131264171:131264171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs577200385
|
| CDS Mutation |
c.2716C>T |
| AA Mutation |
p.Arg906Trp(p.R906W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131218646:131218646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs530766889
|
| CDS Mutation |
c.244G>A |
| AA Mutation |
p.Ala82Thr(p.A82T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131218522:131218522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.120G>T |
| AA Mutation |
p.Lys40Asn(p.K40N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131264517:131264517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3062C>T |
| AA Mutation |
p.Ala1021Val(p.A1021V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131218544:131218544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.142G>T |
| AA Mutation |
p.Asp48Tyr(p.D48Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131226920:131226920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.908G>T |
| AA Mutation |
p.Arg303Ile(p.R303I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131252939:131252939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756695582
|
| CDS Mutation |
c.1618G>A |
| AA Mutation |
p.Glu540Lys(p.E540K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131263524:131263524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2069T>G |
| AA Mutation |
p.Leu690Arg(p.L690R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131263970:131263970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2515G>A |
| AA Mutation |
p.Val839Met(p.V839M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131218876:131218876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142484775
|
| CDS Mutation |
c.474C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356920 |
| Start |
131228304:131228304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.978G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|