| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000399788 |
| Start |
307765:307765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3619G>T |
| AA Mutation |
p.Glu1207Ter(p.E1207*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399788 |
| Start |
309904:309905(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3276dupA |
| AA Mutation |
p.Val1093SerfsTer20(p.V1093Sfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KDM5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
309946:309946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778494527
|
| CDS Mutation |
c.3235G>A |
| AA Mutation |
p.Asp1079Asn(p.D1079N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
307603:307603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773466573
|
| CDS Mutation |
c.3781C>T |
| AA Mutation |
p.Arg1261Trp(p.R1261W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
328901:328901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1902G>A |
| AA Mutation |
p.Met634Ile(p.M634I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
307669:307669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3715C>T |
| AA Mutation |
p.Arg1239Trp(p.R1239W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
334275:334275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1456G>A |
| AA Mutation |
p.Asp486Asn(p.D486N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
356497:356497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.713A>C |
| AA Mutation |
p.Lys238Thr(p.K238T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399788 |
| Start |
297064:297064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4211C>A |
| AA Mutation |
p.Ser1404Tyr(p.S1404Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399788 |
| Start |
354208:354208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.897T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|