| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23621448:23621449(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3026dupC |
| AA Mutation |
p.Glu1010Ter(p.E1010*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23621457:23621458(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3017dupT |
| AA Mutation |
p.Leu1006PhefsTer5(p.L1006Ffs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PALB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23629896:23629896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587778586
|
| CDS Mutation |
c.2258G>A |
| AA Mutation |
p.Arg753Gln(p.R753Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23638121:23638121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.57G>T |
| AA Mutation |
p.Glu19Asp(p.E19D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23635563:23635563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.983C>A |
| AA Mutation |
p.Ser328Tyr(p.S328Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261584 |
| Start |
23629826:23629826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs45508997
|
| CDS Mutation |
c.2328C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261584 |
| Start |
23636005:23636005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.541G>T |
| AA Mutation |
p.Glu181Ter(p.E181*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|