| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147909076:147909076(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1125delC |
| AA Mutation |
p.Gly376GlufsTer33(p.G376Efs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908245:147908246(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290_291insC |
| AA Mutation |
p.His98AlafsTer24(p.H98Afs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GJA8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908652:147908652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140512440
|
| CDS Mutation |
c.697C>T |
| AA Mutation |
p.Arg233Trp(p.R233W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147909018:147909018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1063A>G |
| AA Mutation |
p.Arg355Gly(p.R355G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908208:147908208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Val85Ile(p.V85I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908052:147908052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587710840
|
| CDS Mutation |
c.97C>T |
| AA Mutation |
p.Arg33Trp(p.R33W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908679:147908679(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.724C>A |
| AA Mutation |
p.Gln242Lys(p.Q242K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908474:147908474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782648768
|
| CDS Mutation |
c.519C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369235 |
| Start |
147908111:147908111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782244175
|
| CDS Mutation |
c.156C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|