| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159332603:159332603(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1564delA |
| AA Mutation |
p.Ser522ValfsTer12(p.S522Vfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159332499:159332499(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1459delC |
| AA Mutation |
p.His487ThrfsTer21(p.H487Tfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RAPGEF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159314654:159314654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.256G>A |
| AA Mutation |
p.Glu86Lys(p.E86K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159332657:159332657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763917062
|
| CDS Mutation |
c.1612G>A |
| AA Mutation |
p.Asp538Asn(p.D538N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159355963:159355963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4279G>A |
| AA Mutation |
p.Asp1427Asn(p.D1427N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159343187:159343187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2644G>A |
| AA Mutation |
p.Glu882Lys(p.E882K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159343346:159343346(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2713C>T |
| AA Mutation |
p.Arg905Cys(p.R905C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159343404:159343404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201720107
|
| CDS Mutation |
c.2771G>A |
| AA Mutation |
p.Arg924Gln(p.R924Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159304448:159304448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.167G>T |
| AA Mutation |
p.Ser56Ile(p.S56I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159330457:159330457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.943A>C |
| AA Mutation |
p.Lys315Gln(p.K315Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159352775:159352775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761237046
|
| CDS Mutation |
c.3473C>T |
| AA Mutation |
p.Ser1158Leu(p.S1158L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159353808:159353808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3930A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264431 |
| Start |
159331806:159331806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1269T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|