| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51523281:51523281(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.960delC |
| AA Mutation |
p.Lys321ArgfsTer70(p.K321Rfs*70) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51516868:51516869(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247_1248insTTAA |
| AA Mutation |
p.Lys417Ter(p.K417*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NFATC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51432070:51432070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2719G>T |
| AA Mutation |
p.Asp907Tyr(p.D907Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51523405:51523405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.836C>A |
| AA Mutation |
p.Pro279His(p.P279H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51432166:51432166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs553983994
|
| CDS Mutation |
c.2623G>A |
| AA Mutation |
p.Ala875Thr(p.A875T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396009 |
| Start |
51432278:51432278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199948885
|
| CDS Mutation |
c.2511C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|