| Mutation ID |
22 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128180995:128180995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3212+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128158166:128158166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2475+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC12A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128112908:128112908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.851A>C |
| AA Mutation |
p.Lys284Thr(p.K284T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128134205:128134205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs537215758
|
| CDS Mutation |
c.1229G>A |
| AA Mutation |
p.Arg410Gln(p.R410Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128158072:128158072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2383A>G |
| AA Mutation |
p.Thr795Ala(p.T795A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128151373:128151373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2240T>A |
| AA Mutation |
p.Ile747Asn(p.I747N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128151374:128151374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2241T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262461 |
| Start |
128138910:128138910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1621+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|