| Mutation ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000284637 |
| Start |
169116329:169116331(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2077_2079delCCT |
| AA Mutation |
p.Pro693del(p.P693del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000284637 |
| Start |
169116329:169116330(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2078_2079insATTAGCTAAAAA |
| AA Mutation |
p.Pro693_Asp694insLeuAlaLysAsn(p.P693_D694insLAKN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SH3RF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284637 |
| Start |
169117765:169117765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1535C>A |
| AA Mutation |
p.Ser512Tyr(p.S512Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284637 |
| Start |
169096601:169096601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754020186
|
| CDS Mutation |
c.2585G>A |
| AA Mutation |
p.Arg862Gln(p.R862Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284637 |
| Start |
169117724:169117724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368721358
|
| CDS Mutation |
c.1576C>T |
| AA Mutation |
p.Arg526Trp(p.R526W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284637 |
| Start |
169130089:169130089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746628451
|
| CDS Mutation |
c.1136C>T |
| AA Mutation |
p.Ser379Leu(p.S379L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|