| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44255826:44255826(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1647delA |
| AA Mutation |
p.Gln550ArgfsTer9(p.Q550Rfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262418 |
| Start |
44262705:44262705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.37G>T |
| AA Mutation |
p.Glu13Ter(p.E13*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC4A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44258578:44258578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.922C>A |
| AA Mutation |
p.Leu308Met(p.L308M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44255736:44255736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773192966
|
| CDS Mutation |
c.1737C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262418 |
| Start |
44258470:44258470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1030C>T |
| AA Mutation |
p.Arg344Ter(p.R344*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|