| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136082423:136082423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2788+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136002391:136002392(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.893_894insTTGTTTTATGAT |
| AA Mutation |
p.Gln298delinsHisCysPheMetMet(p.Q298delinsHCFMM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP2R3A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136002718:136002718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1220C>A |
| AA Mutation |
p.Ser407Tyr(p.S407Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136087889:136087889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2795C>T |
| AA Mutation |
p.Ser932Leu(p.S932L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136078422:136078422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147986508
|
| CDS Mutation |
c.2600C>T |
| AA Mutation |
p.Ser867Leu(p.S867L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136002067:136002067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.569G>T |
| AA Mutation |
p.Arg190Ile(p.R190I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136003086:136003086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588C>G |
| AA Mutation |
p.Pro530Ala(p.P530A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136003446:136003446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1948G>T |
| AA Mutation |
p.Asp650Tyr(p.D650Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136002881:136002881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1383C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264977 |
| Start |
136103347:136103347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3193G>T |
| AA Mutation |
p.Glu1065Ter(p.E1065*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264977 |
| Start |
136001588:136001589(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.91_92dupTG |
| AA Mutation |
p.Thr32AlafsTer38(p.T32Afs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|