| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30713685:30713686(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.549dupA |
| AA Mutation |
p.Ser184IlefsTer14(p.S184Ifs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30707456:30707456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3014-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MDC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30708270:30708270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529970009
|
| CDS Mutation |
c.2309C>T |
| AA Mutation |
p.Thr770Met(p.T770M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30703270:30703270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5699T>C |
| AA Mutation |
p.Val1900Ala(p.V1900A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30703730:30703730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5453T>C |
| AA Mutation |
p.Met1818Thr(p.M1818T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30704940:30704940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200570441
|
| CDS Mutation |
c.4243G>A |
| AA Mutation |
p.Glu1415Lys(p.E1415K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376406 |
| Start |
30704999:30704999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4184G>T |
| AA Mutation |
p.Arg1395Ile(p.R1395I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|