| Mutation ID |
35 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50685832:50685832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1318-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000301180 |
| Start |
50714521:50714522(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2777_2778insTCTATT |
| AA Mutation |
p.Leu926_His927insLeuLeu(p.L926_H927insLL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DIP2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50723295:50723295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778799678
|
| CDS Mutation |
c.3260C>T |
| AA Mutation |
p.Thr1087Met(p.T1087M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50675377:50675377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.845A>T |
| AA Mutation |
p.Asn282Ile(p.N282I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50671393:50671393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.635G>A |
| AA Mutation |
p.Arg212Gln(p.R212Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50698388:50698388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2109C>A |
| AA Mutation |
p.Ser703Arg(p.S703R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50744778:50744778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4670A>C |
| AA Mutation |
p.His1557Pro(p.H1557P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50721369:50721369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3139G>T |
| AA Mutation |
p.Asp1047Tyr(p.D1047Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301180 |
| Start |
50732470:50732470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143164072
|
| CDS Mutation |
c.3915C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|