| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263991 |
| Start |
62979203:62979203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564779105
|
| CDS Mutation |
c.2581C>T |
| AA Mutation |
p.Arg861Ter(p.R861*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263991 |
| Start |
63045092:63045092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3517C>T |
| AA Mutation |
p.Arg1173Ter(p.R1173*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EHBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263991 |
| Start |
62979207:62979207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748923200
|
| CDS Mutation |
c.2585G>A |
| AA Mutation |
p.Arg862His(p.R862H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263991 |
| Start |
62996728:62996728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3278C>T |
| AA Mutation |
p.Ala1093Val(p.A1093V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263991 |
| Start |
62831092:62831092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751468240
|
| CDS Mutation |
c.568G>A |
| AA Mutation |
p.Glu190Lys(p.E190K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|