| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106107382:106107386(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2374_2378delTATGA |
| AA Mutation |
p.Tyr792ValfsTer28(p.Y792Vfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106095642:106095643(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319_320insACTAACAATGATAAAAT |
| AA Mutation |
p.Ile107AsnfsTer2(p.I107Nfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRDM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106105664:106105664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762241140
|
| CDS Mutation |
c.1504G>A |
| AA Mutation |
p.Ala502Thr(p.A502T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106107332:106107332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2324C>A |
| AA Mutation |
p.Ser775Tyr(p.S775Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106106976:106106976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1968G>T |
| AA Mutation |
p.Glu656Asp(p.E656D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106107422:106107422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2414G>A |
| AA Mutation |
p.Ser805Asn(p.S805N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106107201:106107201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2193G>T |
| AA Mutation |
p.Glu731Asp(p.E731D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369096 |
| Start |
106107310:106107310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2302G>T |
| AA Mutation |
p.Glu768Ter(p.E768*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369096 |
| Start |
106105405:106105406(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1251dupC |
| AA Mutation |
p.Tyr418LeufsTer6(p.Y418Lfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|