| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53082870:53082870(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.378delG |
| AA Mutation |
p.Ser127AlafsTer20(p.S127Afs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53082869:53082870(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs782157673
|
| CDS Mutation |
c.378dupG |
| AA Mutation |
p.Ser127GlufsTer24(p.S127Efs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TSPYL2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53082949:53082949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.451G>A |
| AA Mutation |
p.Ala151Thr(p.A151T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53085242:53085242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1159C>A |
| AA Mutation |
p.Leu387Met(p.L387M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53085990:53085990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1598A>C |
| AA Mutation |
p.Asn533Thr(p.N533T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375442 |
| Start |
53085880:53085880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145686100
|
| CDS Mutation |
c.1488C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|