| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81527728:81527728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770121773
|
| CDS Mutation |
c.81C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81476999:81476999(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2358delG |
| AA Mutation |
p.Pro787HisfsTer16(p.P787Hfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEL1L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81485674:81485674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1871A>G |
| AA Mutation |
p.Gln624Arg(p.Q624R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81484357:81484357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1914C>A |
| AA Mutation |
p.Phe638Leu(p.F638L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81490458:81490458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775891234
|
| CDS Mutation |
c.1262C>T |
| AA Mutation |
p.Ser421Leu(p.S421L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81526878:81526878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.195A>C |
| AA Mutation |
p.Glu65Asp(p.E65D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336735 |
| Start |
81498030:81498030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754518891
|
| CDS Mutation |
c.990G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|