| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000539276 |
| Start |
110340926:110340926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2029C>T |
| AA Mutation |
p.Arg677Ter(p.R677*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000539276 |
| Start |
110346394:110346395(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3056_3078dupTGCTGCTCATAATGCCCCTGGTG |
| AA Mutation |
p.Ile1027CysfsTer4(p.I1027Cfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP2A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539276 |
| Start |
110327613:110327613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748353664
|
| CDS Mutation |
c.691G>A |
| AA Mutation |
p.Glu231Lys(p.E231K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539276 |
| Start |
110346418:110346418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3077T>C |
| AA Mutation |
p.Val1026Ala(p.V1026A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000539276 |
| Start |
110346019:110346019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2760C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000539276 |
| Start |
110340959:110340959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2062G>T |
| AA Mutation |
p.Glu688Ter(p.E688*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|