| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372470 |
| Start |
43348860:43348861(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1330dupG |
| AA Mutation |
p.Ala444GlyfsTer39(p.A444Gfs*39) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000372470 |
| Start |
43346936:43346936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1308+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MPL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372470 |
| Start |
43339388:43339388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769867913
|
| CDS Mutation |
c.509G>A |
| AA Mutation |
p.Arg170His(p.R170H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372470 |
| Start |
43352524:43352524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1660G>A |
| AA Mutation |
p.Ala554Thr(p.A554T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372470 |
| Start |
43339293:43339293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.414C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|