| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152659005:152659008(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2508_2511delGAGA |
| AA Mutation |
p.Arg837ValfsTer73(p.R837Vfs*73) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152672596:152672597(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1232dupA |
| AA Mutation |
p.Gln412AlafsTer4(p.Q412Afs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRPF40A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152658992:152658992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2524T>C |
| AA Mutation |
p.Ser842Pro(p.S842P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410080 |
| Start |
152671320:152671320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1432C>A |
| AA Mutation |
p.Leu478Ile(p.L478I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000410080 |
| Start |
152658011:152658011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2578G>T |
| AA Mutation |
p.Glu860Ter(p.E860*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|