| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24217995:24217996(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3717_3718insCCCTT |
| AA Mutation |
p.Ala1240ProfsTer15(p.A1240Pfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24205299:24205299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4679-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITSN2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24218001:24218001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202237817
|
| CDS Mutation |
c.3712C>T |
| AA Mutation |
p.Arg1238Cys(p.R1238C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24303850:24303850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.806G>T |
| AA Mutation |
p.Arg269Ile(p.R269I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24209897:24209897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4394T>C |
| AA Mutation |
p.Val1465Ala(p.V1465A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355123 |
| Start |
24252504:24252504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2961T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355123 |
| Start |
24275840:24275840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1954G>T |
| AA Mutation |
p.Glu652Ter(p.E652*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355123 |
| Start |
24298721:24298721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1438G>T |
| AA Mutation |
p.Glu480Ter(p.E480*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355123 |
| Start |
24203745:24203745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765221181
|
| CDS Mutation |
c.4975C>T |
| AA Mutation |
p.Arg1659Ter(p.R1659*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000355123 |
| Start |
24203743:24203744(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4976_4977insCCA |
| AA Mutation |
p.Arg1659_Thr1660insGln(p.R1659_T1660insQ) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|