| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128485999:128485999(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.599delG |
| AA Mutation |
p.Gly200ValfsTer18(p.G200Vfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128481181:128481181(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1281delC |
| AA Mutation |
p.Phe428SerfsTer49(p.F428Sfs*49) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GATA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128481866:128481866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758912342
|
| CDS Mutation |
c.1096G>A |
| AA Mutation |
p.Gly366Arg(p.G366R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128486227:128486227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.371C>T |
| AA Mutation |
p.Thr124Met(p.T124M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128481219:128481219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1243G>A |
| AA Mutation |
p.Glu415Lys(p.E415K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|