| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617811 |
| Start |
37744767:37744767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753701914
|
| CDS Mutation |
c.118G>C |
| AA Mutation |
p.Gly40Arg(p.G40R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617811 |
| Start |
37699167:37699168(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs764042837
|
| CDS Mutation |
c.1561dupC |
| AA Mutation |
p.Gln521ProfsTer30(p.Q521Pfs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HNF1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617811 |
| Start |
37744632:37744632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.253G>A |
| AA Mutation |
p.Asp85Asn(p.D85N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617811 |
| Start |
37733675:37733675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.691A>G |
| AA Mutation |
p.Met231Val(p.M231V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617811 |
| Start |
37704979:37704979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1277A>C |
| AA Mutation |
p.Asn426Thr(p.N426T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|