| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264047 |
| Start |
107988297:107988297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.142G>T |
| AA Mutation |
p.Asp48Tyr(p.D48Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264047 |
| Start |
108001979:108001979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.680C>T |
| AA Mutation |
p.Pro227Leu(p.P227L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264047 |
| Start |
108010372:108010372(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1258delC |
| AA Mutation |
p.Gln420SerfsTer26(p.Q420Sfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |