| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64724444:64724445(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.407dupA |
| AA Mutation |
p.Lys137GlufsTer12(p.K137Efs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000513458 |
| Start |
64724498:64724506(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.346_354delGAAAAGAAA |
| AA Mutation |
p.Glu116_Lys118del(p.E116_K118del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SREK1IP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64728143:64728143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.242G>C |
| AA Mutation |
p.Ser81Thr(p.S81T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64724396:64724396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.456C>A |
| AA Mutation |
p.Phe152Leu(p.F152L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513458 |
| Start |
64728132:64728132(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.253delA |
| AA Mutation |
p.Ile85SerfsTer3(p.I85Sfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|