Table 1 The candidate gene variants under different genetic models

PKDREJ

missense_SNV

NM_006071.1:c.2708 T > C

NP_006062.1:p.(Ile903Thr)

polymorphism

I-1(F)

autosomal recessive

PKDREJ

missense_SNV

NM_006071.1:c.1780C > G

NP_006062.1:p.(Leu594Val)

disease causing

I-2(M)

FGA

missense_SNV

NM_000508.4:c.709 T > C

NP_000499.1(LRG_557p1):p.(Phe237Leu)

polymorphism

de novo

de novo

WNT16

frameshift_insertion

NM_016087.2:c.1_2insCCCA

NP_057171.2:p.(Met1?)

disease causing

I-1(F)

polygenic

CD248

nonframeshift_deletion

NM_020404.2:c.1326_1328del

NP_065137.1:p.(Ser443del)

disease causing

I-1(F)

COL6A5

stopgain

NM_001278298.1:c.7772del

NP_001265227.1:p.(Leu2591Ter)

disease causing

I-1(F)

ADAMTS3

missense_SNV

NM_014243.2:c.181C > T

NP_055058.2:p.(Leu61Phe)

disease causing

I-1(F)

COL4A3^a

missense_SNV

NM_000091.4:c.4607 T > C

NP_000082.2(LRG_230p1):p.(Ile1536Thr)

disease causing

I-2(M)

ADAMTS20

missense_SNV

NM_025003.4:c.2228G > A

NP_079279.3:p.(Gly743Glu)

disease causing

I-2(M)

COL6A2

splicing

NM_001849.3:c.1817-3dup

NP_001840.3(LRG_476p1):p.?

disease causing

I-2(M)

COL11A2

splicing

NM_080680.2:c.1819-18_1819-9del

NP_542411.2:p.?

polymorphism

I-2(M)

COL23A1

splicing

NM_173465.3:c.960 + 3dup

NP_775736.2:p.?

polymorphism

I-2(M)

COL18A1

splicing

NM_030582.3:c.1279-7dup

NP_085059.2:p.?

polymorphism

I-2(M)

PTPRZ1

nonframeshift_deletion

NM_002851.2:c.4290_4292del

NP_002842.2(LRG_1387p1):p.(Asp1431del)

disease causing

I-1(F) or I-2(M)

ADAMTS16

splicing

NM_139056.3:c.1314-6_1314-5dup

NP_620687.2:p.?

polymorphism

I-1(F) and I-2(M)