| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30979250:30979251(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3469dupC |
| AA Mutation |
p.Leu1157ProfsTer90(p.L1157Pfs*90) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30965807:30965808(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1931dupC |
| AA Mutation |
p.Glu645Ter(p.E645*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SETD1A
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30969369:30969369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766001323
|
| CDS Mutation |
c.2835C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30980169:30980169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368388561
|
| CDS Mutation |
c.4383C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30983676:30983676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4854C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262519 |
| Start |
30965996:30965996(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2121delC |
| AA Mutation |
p.Gly708ValfsTer95(p.G708Vfs*95) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262519 |
| Start |
30981107:30981107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4739G>A |
| AA Mutation |
p.Trp1580Ter(p.W1580*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|