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ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152755355:152755355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.317T>G
AA Mutation p.Leu106Arg(p.L106R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152752238:152752238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61T>A
AA Mutation p.Ser21Thr(p.S21T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152755340:152755340(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571217593
CDS Mutation c.302A>G
AA Mutation p.Lys101Arg(p.K101R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152754225:152754225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.167A>T
AA Mutation p.Glu56Val(p.E56V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152756169:152756169(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773490013
CDS Mutation c.371G>A
AA Mutation p.Arg124His(p.R124H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152757110:152757110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.482C>G
AA Mutation p.Ser161Cys(p.S161C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000367244
Start 152757126:152757126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.498A>C
AA Mutation p.Glu166Asp(p.E166D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000367244
Start 152752273:152752273(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.96T>G
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000367244
Start 152754256:152754256(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.198T>C
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000367244
Start 152752219:152752219(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42T>C
Mutation Classification Silent
Feature Type Transcript