Position
|
94803683
|
Gene name
|
TTC37
|
RefSeq
|
NM_014639
|
Reference sequence
|
G
|
Proband: number of reads with reference
|
0
|
Proband: alternative
|
A
|
Proband: number of reads with alternative
|
43
|
Mother: number of reads with reference
|
88
|
Mother: alternative
|
A
|
Mother: number of reads with alternative
|
43
|
Father: number of reads with reference
|
49
|
Father: alternative
|
A
|
Father: number of reads with alternative
|
11
|
Mutation type
|
Missense
|
Mutation: DNA (HGVS nomenclature _c.)
|
c.4597 C > T
|
Mutation: protein (HGVS nomenclature _p.)
|
R1503C
|
Prediction < SIFT
|
Damaging
|
Prediction < PolyPhen-2
|
Probably damaging
|
Sanger verification
|
Yes
|