| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240760738:240760738(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2344delC |
| AA Mutation |
p.Arg782AlafsTer30(p.R782Afs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240725306:240725307(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3917dupA |
| AA Mutation |
p.Asn1306LysfsTer14(p.N1306Kfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIF1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240758463:240758463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376012799
|
| CDS Mutation |
c.2452C>T |
| AA Mutation |
p.Arg818Cys(p.R818C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240761286:240761286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2181G>T |
| AA Mutation |
p.Trp727Cys(p.W727C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240718060:240718060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781422815
|
| CDS Mutation |
c.5020G>A |
| AA Mutation |
p.Gly1674Arg(p.G1674R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240724032:240724032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3958C>T |
| AA Mutation |
p.Arg1320Cys(p.R1320C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240720930:240720930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4549G>A |
| AA Mutation |
p.Gly1517Ser(p.G1517S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240719191:240719191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4726G>T |
| AA Mutation |
p.Val1576Phe(p.V1576F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240718154:240718154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377694236
|
| CDS Mutation |
c.4926C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240789257:240789257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.162C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320389 |
| Start |
240786442:240786442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.501C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320389 |
| Start |
240746168:240746168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2770G>T |
| AA Mutation |
p.Glu924Ter(p.E924*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|