| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168717876:168717876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.743C>T |
| AA Mutation |
p.Ala248Val(p.A248V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168717937:168717937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.804C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CERS6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168561232:168561232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.317T>G |
| AA Mutation |
p.Leu106Arg(p.L106R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168695037:168695037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.595G>T |
| AA Mutation |
p.Asp199Tyr(p.D199Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168715005:168715005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.614T>G |
| AA Mutation |
p.Phe205Cys(p.F205C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000305747 |
| Start |
168695009:168695010(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.570_579dupGTCTTTGATG |
| AA Mutation |
p.Phe194ValfsTer9(p.F194Vfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|