| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121565469:121565469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121517385:121517391(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1012_1018delGGGGAAT |
| AA Mutation |
p.Gly338IlefsTer18(p.G338Ifs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FGFR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121479994:121479994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374993905
|
| CDS Mutation |
c.2329G>A |
| AA Mutation |
p.Glu777Lys(p.E777K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121487421:121487421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113014479
|
| CDS Mutation |
c.1990C>T |
| AA Mutation |
p.Arg664Trp(p.R664W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121498516:121498516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1651C>A |
| AA Mutation |
p.Leu551Ile(p.L551I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121538711:121538711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.629G>A |
| AA Mutation |
p.Arg210Gln(p.R210Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121485399:121485399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2191G>A |
| AA Mutation |
p.Glu731Lys(p.E731K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121503891:121503891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1338G>T |
| AA Mutation |
p.Arg446Ser(p.R446S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121551365:121551365(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.549delG |
| AA Mutation |
p.Asn184ThrfsTer9(p.N184Tfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358487 |
| Start |
121515146:121515146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1258A>T |
| AA Mutation |
p.Lys420Ter(p.K420*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|