| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000371514 |
| Start |
53050608:53050608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1549-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000371514 |
| Start |
52988090:52988091(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1035_1036insATTAATAGTAACAATAGAACAAATGATATG |
| AA Mutation |
p.Asn345_Pro346insIleAsnSerAsnAsnArgThrAsnAspMet(p.N345_P346insINSNNRTNDM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371514 |
| Start |
52980504:52980504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.934G>A |
| AA Mutation |
p.Glu312Lys(p.E312K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|