| Mutation ID |
19 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000262429 |
| Start |
84452091:84452091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1831G>T |
| AA Mutation |
p.Gly611Ter(p.G611*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000262429 |
| Start |
84461784:84461786(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2554_2556delTTC |
| AA Mutation |
p.Phe852del(p.F852del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP2C2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262429 |
| Start |
84452004:84452004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs62640927
|
| CDS Mutation |
c.1744G>A |
| AA Mutation |
p.Val582Met(p.V582M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262429 |
| Start |
84460706:84460706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2386G>A |
| AA Mutation |
p.Val796Met(p.V796M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262429 |
| Start |
84459133:84459133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2161G>A |
| AA Mutation |
p.Glu721Lys(p.E721K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262429 |
| Start |
84446352:84446352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1425T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262429 |
| Start |
84422668:84422668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.814G>T |
| AA Mutation |
p.Glu272Ter(p.E272*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|