| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81140655:81140656(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1421dupA |
| AA Mutation |
p.Asn474LysfsTer2(p.N474Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81104377:81104378(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2118_2119insTACATCTACTA |
| AA Mutation |
p.Lys707TyrfsTer4(p.K707Yfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRKG2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81135205:81135205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751785646
|
| CDS Mutation |
c.1726G>T |
| AA Mutation |
p.Asp576Tyr(p.D576Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81167209:81167209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144720151
|
| CDS Mutation |
c.864G>T |
| AA Mutation |
p.Lys288Asn(p.K288N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81110594:81110594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760989712
|
| CDS Mutation |
c.1794G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264399 |
| Start |
81142902:81142911(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1290_1299delCTCTCTGGAA |
| AA Mutation |
p.Ser431Ter(p.S431*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264399 |
| Start |
81171793:81171793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.640G>T |
| AA Mutation |
p.Glu214Ter(p.E214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|