| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310775 |
| Start |
89281774:89281774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1522A>T |
| AA Mutation |
p.Lys508Ter(p.K508*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89247660:89247661(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17dupT |
| AA Mutation |
p.Leu6PhefsTer23(p.L6Ffs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FANCI
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89268454:89268454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.811A>T |
| AA Mutation |
p.Ile271Phe(p.I271F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89274185:89274185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.993G>T |
| AA Mutation |
p.Lys331Asn(p.K331N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89291624:89291624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1902C>A |
| AA Mutation |
p.Phe634Leu(p.F634L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89274218:89274218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1026A>C |
| AA Mutation |
p.Gln342His(p.Q342H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310775 |
| Start |
89283150:89283150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368127142
|
| CDS Mutation |
c.1598G>A |
| AA Mutation |
p.Arg533Gln(p.R533Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310775 |
| Start |
89268505:89268505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.862G>T |
| AA Mutation |
p.Glu288Ter(p.E288*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|