Skip to main content

Table 1 The information about SNPs of CUBN gene from the index patient including minor allele frequency (MAF) and inheritance from parents

From: Novel pathogenic variants in CUBN uncouple proteinuria from renal function

Chromosome position

MAF

Base

Gene

Function

Type of mutation

ClinVar

assessment

Inheritance

(amino acid)

chr10:16961987

0.000077

c.6796C > T

CUBN

Nonsense

Germline

Not listed

Father

(p.R2266X)

chr10:17026232

0.000077

c.4397G > A

CUBN

Missense

Germline

Not listed

Mother

(p.C1466Y)

chr10:169

–

c.5153_5154delCT

CUBN

Frame shift

Germline

Not listed

Father

90531–16990533

(p.S1718X)

chr10:16961959

0.0013

c.6821 + 3A > G

CUBN

Splice variant

Germline

Not listed

Mother

(splicing)

Â