| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410009 |
| Start |
70831800:70831800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs527591997
|
| CDS Mutation |
c.737C>T |
| AA Mutation |
p.Ala246Val(p.A246V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410009 |
| Start |
70833736:70833736(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.475delA |
| AA Mutation |
p.Ser159ValfsTer9(p.S159Vfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CD207
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410009 |
| Start |
70833697:70833697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370455494
|
| CDS Mutation |
c.514C>T |
| AA Mutation |
p.Arg172Trp(p.R172W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410009 |
| Start |
70831070:70831070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967T>G |
| AA Mutation |
p.Tyr323Asp(p.Y323D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000410009 |
| Start |
70833030:70833030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.587C>A |
| AA Mutation |
p.Ser196Tyr(p.S196Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|