| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324771 |
| Start |
30894602:30894602(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1448delC |
| AA Mutation |
p.Pro483ArgfsTer170(p.P483Rfs*170) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324771 |
| Start |
30898887:30898887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2452-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DDR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324771 |
| Start |
30891439:30891439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.625T>C |
| AA Mutation |
p.Tyr209His(p.Y209H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000324771 |
| Start |
30888774:30888775(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.47_79dupCAAGTGGAGATGCTGACATGAAGGGACATTTTG |
| AA Mutation |
p.Ala16_Phe26dup(p.A16_F26dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|