| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000383807 |
| Start |
10092220:10092220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745930696
|
| CDS Mutation |
c.3817C>T |
| AA Mutation |
p.Arg1273Ter(p.R1273*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10090346:10090347(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3745dupA |
| AA Mutation |
p.Ile1249AsnfsTer2(p.I1249Nfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FANCD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10052406:10052406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1565A>G |
| AA Mutation |
p.Asp522Gly(p.D522G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10073340:10073340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2693C>A |
| AA Mutation |
p.Ser898Tyr(p.S898Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10081163:10081163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3040C>A |
| AA Mutation |
p.His1014Asn(p.H1014N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10042588:10042588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773072936
|
| CDS Mutation |
c.813G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000383807 |
| Start |
10034704:10034704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.283G>T |
| AA Mutation |
p.Glu95Ter(p.E95*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000383807 |
| Start |
10074582:10074583(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2774dupT |
| AA Mutation |
p.Arg926ProfsTer6(p.R926Pfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|