| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173529008:173529008(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.282delG |
| AA Mutation |
p.Pro95ArgfsTer4(p.P95Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173529043:173529043(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.247delG |
| AA Mutation |
p.Val83CysfsTer16(p.V83Cfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HAND2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173527323:173527323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.608G>A |
| AA Mutation |
p.Arg203Gln(p.R203Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173528883:173528883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.407C>T |
| AA Mutation |
p.Ser136Phe(p.S136F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173528885:173528885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747570194
|
| CDS Mutation |
c.405C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359562 |
| Start |
173528945:173528945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144784937
|
| CDS Mutation |
c.345C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|