| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308370 |
| Start |
40627006:40627006(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs779161422
|
| CDS Mutation |
c.4224delC |
| AA Mutation |
p.Ala1409HisfsTer20(p.A1409Hfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000308370 |
| Start |
40616888:40616888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3014-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LTBP4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308370 |
| Start |
40609769:40609769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1783C>G |
| AA Mutation |
p.Pro595Ala(p.P595A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308370 |
| Start |
40611204:40611204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2064G>T |
| AA Mutation |
p.Lys688Asn(p.K688N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|