| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000346798 |
| Start |
26000100:26000100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.948T>A |
| AA Mutation |
p.Cys316Ter(p.C316*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000346798 |
| Start |
25897654:25897655(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1982_1983insTAATAGGTCATTTGG |
| AA Mutation |
p.Ile661_Lys662insAsnArgSerPheGly(p.I661_K662insNRSFG) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
26051110:26051110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760249418
|
| CDS Mutation |
c.552T>G |
| AA Mutation |
p.Phe184Leu(p.F184L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
25891748:25891748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2185A>G |
| AA Mutation |
p.Thr729Ala(p.T729A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
26053244:26053244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.460G>A |
| AA Mutation |
p.Ala154Thr(p.A154T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
25911782:25911782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1868C>A |
| AA Mutation |
p.Ser623Tyr(p.S623Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000346798 |
| Start |
25955678:25955678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1536C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|