| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73465438:73465438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3071+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000339594 |
| Start |
73447293:73447295(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3813_3815delGGA |
| AA Mutation |
p.Glu1273del(p.E1273del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BAZ1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73477219:73477219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2242A>T |
| AA Mutation |
p.Ile748Phe(p.I748F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73470472:73470472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2605C>T |
| AA Mutation |
p.Arg869Cys(p.R869C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73492888:73492888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605C>G |
| AA Mutation |
p.Pro202Arg(p.P202R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73478178:73478178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781852526
|
| CDS Mutation |
c.1283T>C |
| AA Mutation |
p.Leu428Pro(p.L428P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73450855:73450855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782811497
|
| CDS Mutation |
c.3572G>A |
| AA Mutation |
p.Arg1191Gln(p.R1191Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73477468:73477468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1993G>T |
| AA Mutation |
p.Asp665Tyr(p.D665Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73492897:73492897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.596G>A |
| AA Mutation |
p.Arg199Gln(p.R199Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73492896:73492896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.597A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339594 |
| Start |
73442461:73442462(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4149_4186dupCATGGACTTTCAGACAGTGCAGAACAAATGTTCCTGTG |
| AA Mutation |
p.Gly1396AlafsTer26(p.G1396Afs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|