| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231790 |
| Start |
37008821:37008840(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.463_482delCTTTTTTACAACATAGCCAC |
| AA Mutation |
p.Leu155GlufsTer10(p.L155Efs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000231790 |
| Start |
37011857:37011857(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs35847123
|
| CDS Mutation |
c.588delA |
| AA Mutation |
p.Lys196AsnfsTer6(p.K196Nfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231790 |
| Start |
37048595:37048595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63751310
|
| CDS Mutation |
c.1975C>T |
| AA Mutation |
p.Arg659Ter(p.R659*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231790 |
| Start |
37014517:37014517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.763A>T |
| AA Mutation |
p.Lys255Ter(p.K255*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000231790 |
| Start |
37007055:37007055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63751302
|
| CDS Mutation |
c.445C>T |
| AA Mutation |
p.Gln149Ter(p.Q149*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000231790 |
| Start |
37012100:37012100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267607778
|
| CDS Mutation |
c.677+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000231790 |
| Start |
37004400:37004400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.307-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |