| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1192325:1192325(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14184delC |
| AA Mutation |
p.Arg4729GlufsTer5(p.R4729Efs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1164280:1164280(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.969delG |
| AA Mutation |
p.Leu324CysfsTer137(p.L324Cfs*137) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MUC5AC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1163024:1163024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.658G>A |
| AA Mutation |
p.Val220Ile(p.V220I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1162104:1162104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.409C>A |
| AA Mutation |
p.Leu137Ile(p.L137I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1168864:1168864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1708C>A |
| AA Mutation |
p.Leu570Ile(p.L570I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1158051:1158055(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.55_59delGCCTG |
| AA Mutation |
p.Ala19HisfsTer99(p.A19Hfs*99) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|