| Mutation ID |
26 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89771815:89771815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2015-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000389301 |
| Start |
89810959:89810964(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.391_396delACCAGT |
| AA Mutation |
p.Thr131_Ser132del(p.T131_S132del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FANCA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89742871:89742871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3694T>G |
| AA Mutation |
p.Phe1232Val(p.F1232V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389301 |
| Start |
89815930:89815930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.136T>C |
| AA Mutation |
p.Ser46Pro(p.S46P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|