| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68723677:68723678(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761897392
|
| CDS Mutation |
c.2618dupC |
| AA Mutation |
p.Ala874SerfsTer16(p.A874Sfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68724090:68724091(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2925dupG |
| AA Mutation |
p.Leu976AlafsTer8(p.L976Afs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STARD8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68721559:68721559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2032G>T |
| AA Mutation |
p.Ala678Ser(p.A678S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68724416:68724416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3066G>T |
| AA Mutation |
p.Lys1022Asn(p.K1022N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68723711:68723711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768839540
|
| CDS Mutation |
c.2645G>A |
| AA Mutation |
p.Arg882Gln(p.R882Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68724380:68724380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3030C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68719255:68719255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1506C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252336 |
| Start |
68718101:68718102(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.950_951delGG |
| AA Mutation |
p.Gly317AlafsTer21(p.G317Afs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|