| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91975904:91975904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1348+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000265814 |
| Start |
92076138:92076138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-85-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RUNX1T1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91970735:91970735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770002524
|
| CDS Mutation |
c.1462C>T |
| AA Mutation |
p.Arg488Cys(p.R488C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91986306:91986306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1097A>G |
| AA Mutation |
p.Asp366Gly(p.D366G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91960279:91960279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1778C>T |
| AA Mutation |
p.Pro593Leu(p.P593L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91991803:91991803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.827A>T |
| AA Mutation |
p.Tyr276Phe(p.Y276F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91960382:91960382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1675C>A |
| AA Mutation |
p.Gln559Lys(p.Q559K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91986223:91986223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200248598
|
| CDS Mutation |
c.1180C>T |
| AA Mutation |
p.Arg394Trp(p.R394W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
92011013:92011013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547C>A |
| AA Mutation |
p.Pro183Thr(p.P183T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265814 |
| Start |
91970785:91970785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1412C>T |
| AA Mutation |
p.Ala471Val(p.A471V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265814 |
| Start |
92005259:92005259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138740592
|
| CDS Mutation |
c.597C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265814 |
| Start |
91986286:91986286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1117C>T |
| AA Mutation |
p.Arg373Ter(p.R373*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265814 |
| Start |
91991834:91991834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.796C>T |
| AA Mutation |
p.Arg266Ter(p.R266*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|