| Mutation ID |
24 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107932330:107932330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs76420489
|
| CDS Mutation |
c.4236C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107924329:107924329(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5125delA |
| AA Mutation |
p.Thr1709LeufsTer22(p.T1709Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LAMB1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107940263:107940263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3487G>T |
| AA Mutation |
p.Asp1163Tyr(p.D1163Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107994945:107994945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.365C>G |
| AA Mutation |
p.Thr122Ser(p.T122S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107935512:107935512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4091A>T |
| AA Mutation |
p.Glu1364Val(p.E1364V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107959276:107959276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2663A>C |
| AA Mutation |
p.Asp888Ala(p.D888A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222399 |
| Start |
107951262:107951262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3355G>T |
| AA Mutation |
p.Glu1119Ter(p.E1119*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000222399 |
| Start |
107975878:107975878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1001-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|