| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39473425:39473425(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2399delC |
| AA Mutation |
p.Pro800HisfsTer154(p.P800Hfs*154) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39476080:39476080(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3029delG |
| AA Mutation |
p.Gly1010AlafsTer7(p.X1010_splice) |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SUPT5H
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39464892:39464892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.719A>G |
| AA Mutation |
p.Glu240Gly(p.E240G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39469322:39469322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1298T>C |
| AA Mutation |
p.Leu433Pro(p.L433P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39470162:39470162(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1418A>G |
| AA Mutation |
p.Lys473Arg(p.K473R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39470150:39470150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1406G>T |
| AA Mutation |
p.Arg469Ile(p.R469I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39476371:39476371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771527166
|
| CDS Mutation |
c.3236G>A |
| AA Mutation |
p.Arg1079His(p.R1079H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000432763 |
| Start |
39474625:39474625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760484241
|
| CDS Mutation |
c.2931C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|