| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000498273 |
| Start |
62207079:62207079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771642989
|
| CDS Mutation |
c.451G>T |
| AA Mutation |
p.Glu151Ter(p.E151*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000498273 |
| Start |
62207326:62207328(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.700_702delAAA |
| AA Mutation |
p.Lys234del(p.K234del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> L1TD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000498273 |
| Start |
62210821:62210821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2047C>G |
| AA Mutation |
p.Gln683Glu(p.Q683E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000498273 |
| Start |
62206733:62206733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.105G>T |
| AA Mutation |
p.Lys35Asn(p.K35N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000498273 |
| Start |
62207071:62207071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443A>C |
| AA Mutation |
p.Asn148Thr(p.N148T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000498273 |
| Start |
62210788:62210788(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2014G>T |
| AA Mutation |
p.Glu672Ter(p.E672*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|