| Mutation ID |
50 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58102212:58102213(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1358dupA |
| AA Mutation |
p.Asn453LysfsTer26(p.N453Kfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
51 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58104060:58104061(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs746105983
|
| CDS Mutation |
c.1592dupG |
| AA Mutation |
p.His532ThrfsTer9(p.H532Tfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FLNB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58136166:58136166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753946814
|
| CDS Mutation |
c.4859C>T |
| AA Mutation |
p.Thr1620Met(p.T1620M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58108557:58108557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2041A>C |
| AA Mutation |
p.Lys681Gln(p.K681Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58141901:58141901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5153A>C |
| AA Mutation |
p.Asn1718Thr(p.N1718T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58142656:58142656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773991765
|
| CDS Mutation |
c.5188G>A |
| AA Mutation |
p.Glu1730Lys(p.E1730K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295956 |
| Start |
58168456:58168456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7215C>A |
| AA Mutation |
p.Phe2405Leu(p.F2405L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295956 |
| Start |
58081644:58081644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.655G>T |
| AA Mutation |
p.Glu219Ter(p.E219*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|