| Mutation ID |
17 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000375940 |
| Start |
27170511:27170512(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1552_1553insTCAAAATTTCTTTTT |
| AA Mutation |
p.Gln518delinsLeuLysIleSerPheTer(p.Q518delinsLKISF*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375940 |
| Start |
27170324:27170325(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs780698479
|
| CDS Mutation |
c.1372dupA |
| AA Mutation |
p.Ile458AsnfsTer5(p.I458Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MASTL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375940 |
| Start |
27170138:27170138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1179C>A |
| AA Mutation |
p.Phe393Leu(p.F393L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375940 |
| Start |
27170778:27170778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1819C>T |
| AA Mutation |
p.Pro607Ser(p.P607S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375940 |
| Start |
27165092:27165092(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.582delA |
| AA Mutation |
p.Pro195HisfsTer61(p.P195Hfs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|