| Mutation ID |
17 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000299767 |
| Start |
103947407:103947409(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2361_2363delTGA |
| AA Mutation |
p.Asp787del(p.D787del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000299767 |
| Start |
103934021:103934022(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.477_478insTATTTAATA |
| AA Mutation |
p.Leu159_Val160insTyrLeuIle(p.L159_V160insYLI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HSP90B1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103947380:103947380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760087578
|
| CDS Mutation |
c.2332G>A |
| AA Mutation |
p.Glu778Lys(p.E778K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103942717:103942717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1565C>T |
| AA Mutation |
p.Thr522Ile(p.T522I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103937776:103937776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.825A>G |
| AA Mutation |
p.Ile275Met(p.I275M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103939533:103939533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1000G>A |
| AA Mutation |
p.Glu334Lys(p.E334K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299767 |
| Start |
103932838:103932838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.307G>T |
| AA Mutation |
p.Glu103Ter(p.E103*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299767 |
| Start |
103942611:103942611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1459G>T |
| AA Mutation |
p.Glu487Ter(p.E487*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|