| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331563 |
| Start |
397258:397258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.757C>T |
| AA Mutation |
p.Arg253Ter(p.R253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331563 |
| Start |
400076:400077(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs781609202
|
| CDS Mutation |
c.1390dupC |
| AA Mutation |
p.Leu464ProfsTer224(p.L464Pfs*224) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PKP3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331563 |
| Start |
400094:400094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775543180
|
| CDS Mutation |
c.1401G>T |
| AA Mutation |
p.Gln467His(p.Q467H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|