| Mutation ID |
9 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43460540:43460541(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616_617insATTAAATACACT |
| AA Mutation |
p.Ser206delinsAsnTerIleHisCys(p.S206delinsN*IHC) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43460957:43460958(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.932dupA |
| AA Mutation |
p.Ala312GlyfsTer18(p.A312Gfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SRSF6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244020 |
| Start |
43460846:43460846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141930166
|
| CDS Mutation |
c.818G>A |
| AA Mutation |
p.Arg273Gln(p.R273Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000244020 |
| Start |
43460725:43460725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.697C>T |
| AA Mutation |
p.Arg233Ter(p.R233*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000244020 |
| Start |
43458390:43458391(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.146_154dupACGACGCCG |
| AA Mutation |
p.Asp49_Ala51dup(p.D49_A51dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|