| ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20880883:20880883(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1360G>C |
| AA Mutation |
p.Val454Leu(p.V454L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20916051:20916051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1913T>C |
| AA Mutation |
p.Val638Ala(p.V638A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000261196 |
| Start |
20883546:20883551(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1627_1632delATAAAC |
| AA Mutation |
p.Ile543_Asn544del(p.I543_N544del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |