| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223747166:223747166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs549405629
|
| CDS Mutation |
c.729+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223769908:223769911(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1824+2_1824+5delTAAG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CAPN2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223744191:223744191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.399A>C |
| AA Mutation |
p.Glu133Asp(p.E133D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223752946:223752946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1125G>T |
| AA Mutation |
p.Arg375Ser(p.R375S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223759420:223759420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748221029
|
| CDS Mutation |
c.1468G>A |
| AA Mutation |
p.Glu490Lys(p.E490K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223761588:223761588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369320951
|
| CDS Mutation |
c.1537G>A |
| AA Mutation |
p.Asp513Asn(p.D513N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295006 |
| Start |
223747048:223747048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139316104
|
| CDS Mutation |
c.612C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|