| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134986563:134986564(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2308_2309delAA |
| AA Mutation |
p.Lys770ValfsTer5(p.K770Vfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375845 |
| Start |
134998939:134998939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.373G>T |
| AA Mutation |
p.Glu125Ter(p.E125*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAP3K19
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134986816:134986816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2056C>G |
| AA Mutation |
p.Arg686Gly(p.R686G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134980852:134980852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770778105
|
| CDS Mutation |
c.3889G>A |
| AA Mutation |
p.Ala1297Thr(p.A1297T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134981284:134981284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3457A>C |
| AA Mutation |
p.Asn1153His(p.N1153H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134983763:134983763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557761734
|
| CDS Mutation |
c.3135G>T |
| AA Mutation |
p.Lys1045Asn(p.K1045N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134986714:134986714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2158A>G |
| AA Mutation |
p.Lys720Glu(p.K720E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134987886:134987886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.986C>A |
| AA Mutation |
p.Ser329Tyr(p.S329Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134988165:134988165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.707G>T |
| AA Mutation |
p.Arg236Ile(p.R236I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134986180:134986180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2692G>A |
| AA Mutation |
p.Asp898Asn(p.D898N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134986674:134986674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2198A>C |
| AA Mutation |
p.Lys733Thr(p.K733T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375845 |
| Start |
134987601:134987601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1271A>G |
| AA Mutation |
p.Lys424Arg(p.K424R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375845 |
| Start |
134985970:134985970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2902G>T |
| AA Mutation |
p.Glu968Ter(p.E968*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|