| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219637690:219637691(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs775811647
|
| CDS Mutation |
c.2652dupC |
| AA Mutation |
p.Ser885GlnfsTer83(p.S885Qfs*83) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219628571:219628571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC4A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219635359:219635359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1835C>T |
| AA Mutation |
p.Pro612Leu(p.P612L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219631997:219631997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.841C>T |
| AA Mutation |
p.Arg281Trp(p.R281W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219639553:219639553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3095G>T |
| AA Mutation |
p.Gly1032Val(p.G1032V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219633294:219633294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1298A>G |
| AA Mutation |
p.Asp433Gly(p.D433G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219629597:219629597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757698492
|
| CDS Mutation |
c.513C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219641680:219641680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369285267
|
| CDS Mutation |
c.3651C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|