| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163483093:163483094(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1609dupA |
| AA Mutation |
p.Ile537AsnfsTer3(p.I537Nfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163469743:163469744(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.379dupA |
| AA Mutation |
p.Thr127AsnfsTer7(p.T127Nfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HMMR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163469716:163469716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.346G>A |
| AA Mutation |
p.Glu116Lys(p.E116K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163482775:163482775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1516C>G |
| AA Mutation |
p.Gln506Glu(p.Q506E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163469663:163469663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753312489
|
| CDS Mutation |
c.293G>A |
| AA Mutation |
p.Arg98His(p.R98H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163463951:163463951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.142A>C |
| AA Mutation |
p.Lys48Gln(p.K48Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163469755:163469755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385C>A |
| AA Mutation |
p.Leu129Ile(p.L129I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358715 |
| Start |
163474089:163474089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934G>A |
| AA Mutation |
p.Glu312Lys(p.E312K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|