| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28717468:28717468(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1410delT |
| AA Mutation |
p.Tyr472ThrfsTer37(p.Y472Tfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000220562 |
| Start |
28717607:28717607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1548G>A |
| AA Mutation |
p.Trp516Ter(p.W516*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EXTL3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28716577:28716577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.518C>T |
| AA Mutation |
p.Ala173Val(p.A173V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28716444:28716444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.385C>A |
| AA Mutation |
p.Leu129Ile(p.L129I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28716190:28716190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772563405
|
| CDS Mutation |
c.131C>T |
| AA Mutation |
p.Pro44Leu(p.P44L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28743105:28743105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2441C>A |
| AA Mutation |
p.Ser814Tyr(p.S814Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28717525:28717525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781097911
|
| CDS Mutation |
c.1466G>A |
| AA Mutation |
p.Arg489His(p.R489H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28731331:28731331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2257G>A |
| AA Mutation |
p.Glu753Lys(p.E753K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28750791:28750791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs554159825
|
| CDS Mutation |
c.2685G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28717100:28717100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1041C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220562 |
| Start |
28717805:28717805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1746G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|