| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357681 |
| Start |
203720639:203720639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2497G>T |
| AA Mutation |
p.Gly833Ter(p.G833*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203703783:203703784(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1070dupC |
| AA Mutation |
p.Arg358SerfsTer28(p.R358Sfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP2B4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203702070:203702070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141117629
|
| CDS Mutation |
c.928C>T |
| AA Mutation |
p.Arg310Cys(p.R310C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203707080:203707080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376933890
|
| CDS Mutation |
c.1171C>T |
| AA Mutation |
p.Arg391Cys(p.R391C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203739784:203739784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764631446
|
| CDS Mutation |
c.3548C>T |
| AA Mutation |
p.Ala1183Val(p.A1183V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203710958:203710958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1881C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203739563:203739563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773269319
|
| CDS Mutation |
c.3327G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203703710:203703710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576322841
|
| CDS Mutation |
c.996C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203711012:203711012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181836521
|
| CDS Mutation |
c.1935C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357681 |
| Start |
203700850:203700850(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828delC |
| AA Mutation |
p.Asn277ThrfsTer80(p.N277Tfs*80) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357681 |
| Start |
203712131:203712131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2203A>T |
| AA Mutation |
p.Lys735Ter(p.K735*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|