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. 2020 Jan 14;10:270. doi: 10.1038/s41598-019-57149-5

Table 2.

Mutation genotypes of 69 Japanese patients with proteinuria for whom disease-causing mutations were identified.

Patient Gene genome amino acids Mode
of Inheritance		 Origin of variant HGMD reference allele read depth alternative allele read depth dbSNP Japanese frequency
Neph7

WT1

(NM_024426.4)

 c.1384 C > T p.Arg462Trp AD de novo reported 16 12 rs121907900 No data(ND)
Neph15 WT1 c.1432 + 4 C > T AD Not done (ND) reported 15 19 rs587776577 ND
Neph33 WT1 c.1178 G > A p.Cys393Tyr AD de novo novel 4 6 — ND
Neph48 WT1 c.1491 T > A p.Asp497Glu AD ND novel 175 113 — ND
Neph52 WT1 c.1432 + 5 G > A AD ND reported 63 50 rs587776576 ND
Neph90 WT1 c.1392 C > A p.Asp464Glu AD de novo reported 5 8 — ND
Neph92 WT1 c.1300 C > T p.Arg434Cys AD ND (father) reported 36 42 rs121907910 ND
Neph95 WT1 c.1384 C > T p.Arg462Trp AD ND reported 5 8 rs121907900 ND
Neph107 WT1 c.1301 G > A p.Arg434His AD de novo reported 1 3 rs121907901 ND
Neph132 WT1 c.1301 G > T p.Arg434Leu AD de novo reported 163 129 — ND
Neph136 WT1 c.1432 + 4 C > T AD ND reported 74 46 rs587776577 ND
Neph137 WT1 c.1432 + 4 C > T AD ND (father) reported 45 45 rs587776577 ND
Neph154 WT1 c.1321 C > T p.His441Tyr AD de novo reported 257 216 — ND
Neph171 WT1 c.1348 C > T p.Pro450Ser AD de novo reported 99 89 — ND
Neph185 WT1 c.1432 + 4 C > T AD ND (father) reported 48 50 rs587776577 ND
Neph197 WT1 c.1351 T > A p.Phe451Ile AD de novo novel 20 22 — ND
Neph208 WT1 c.1334 A > G p.His445Arg AD de novo reported 46 56 — ND
Neph27

NPHS1

(NM_004646.3)

c.1102 C > T

c.2515del

p.Pro368Ser

p.Gln839ArgfsTer8

 AR

father(carrier)

mother(carrier)

reported

reported

50

4

46

8

386833866

386833918

ND

ND
Neph69 NPHS1

c.869dup

c.1379 G > A

p.Thr291HisfsTer51

p.Arg460Gln

 AR ND

novel

reported

224

274

240

199

—

rs386833880

ND

ND
Neph91 NPHS1

c.2515del

c.105 G > C

p.Gln839ArgfsTer8

p.Trp35Cys

 AR

father(carrier)

mother(carrier)

reported

novel

29

20

14

28

rs386833918

—

ND

ND
Neph104 NPHS1 c.2515del p.Gln839ArgfsTer8 AR ND reported 1 44 rs386833918 ND
Neph106 NPHS1

c.1135 C > T

c.2515del

p.Arg379Trp

p.Gln839ArgfsTer8

 AR

mother(carrier)

father(carrier)

reported

reported

55

29

44

24

rs386833871

rs386833918

ND

ND
Neph113 NPHS1

c.1379 G > A

c.2464 G > A

p.Arg460Gln

p.Val822Met

 AR

mother(carrier)

father(carrier)

reported

reported

21

21

22

21

rs386833880

rs267606918

ND

ND
Neph192 NPHS1 c.2464 G > A p.Val822Met AR parents(carrier) reported 31 7 rs267606918 ND
Neph203 NPHS1

c.3162_3165dup

c.2464 G > A

p.Gly1056PhefsTer41

p.Val822Met

 AR

father(carrier)

mother(carrier)

reported

reported

281

44

216

7

—

rs267606918

ND

ND
Neph59

INF2

(NM_022489.3)

 c.134 C > T p.Pro45Leu AD father novel 177 161 — ND
Neph76 INF2 c.533 T > C p.Phe178Ser AD mother novel 135 160 — ND
Neph134 INF2 c.529 C > T p.Arg177Cys AD de novo reported 153 172 — ND
Neph155 INF2 c.218 G > T p.Gly73Val AD de novo novel 62 34 rs918089359 ND
Neph177 INF2 c.653 G > A p.Arg218Gln AD ND reported 103 127 rs267607183 ND
Neph198 INF2 c.301 T > C p.Cys101Arg AD mother novel 117 87 — ND
Neph202 INF2 c.124 C > Tc.172 G > A

p.Leu42Phe

p.Glu58Lys

 AD ND novel

51

92

76

97

 —

ND

ND
Neph227 INF2 c.658 G > A p.Glu220Lys AD de novo novel 128 141 — ND
Neph5 TRPC6(NM_004621.5) c.517 T > G p.Tyr173Asp AD de novo novel 8 1 — ND
Neph24 TRPC6 c.2645-1 G > A AD de novo novel 82 66 — ND
Neph39 TRPC6 c.2683 C > T p.Arg895Cys AD de novo reported 112 72 rs121434394 ND
Neph139 TRPC6 c.523 C > T p.Arg175Trp AD de novo reported 356 214 rs869025541 ND
Neph149 TRPC6 c.326 G > A p.Gly109Asp AD de novo novel 216 222 — ND
Neph176 TRPC6 c.2624 A > T p.Glu875Val AD mother novel 225 226 — ND
Neph234 TRPC6 c.434 A > G p.His145Arg AD father novel 46 113 — ND
Neph4

LAMB2

(NM_002292.3)

c.225del

c.2095 G > C

p.Tyr76ThrfsTer36

p.Gly699Arg

 AR

mother(carrier)

father(carrier)

novel

reported

21

32

14

26

—

rs28364667

ND

HGVD:0.005
Neph23 LAMB2 c.482 T > C p.Leu161Pro AR ND novel 0 10 — ND
Neph58 LAMB2

c.4519 C > T

c.1648C > T

p.Gln1507Ter

p.Arg550Ter

 AR

mother(carrier)

father(carrier)

novel

novel

239

114

195

102

rs974891221

rs1218889239

ND

ND
Neph87 LAMB2

c.4904_4905del

c.250-14_250-3del

 p.Thr1635ArgfsTer23 AR ND

novel

novel

269

73

294

43

 —

ND

ND
Neph89 LAMB2 c.821 T > C p.Leu274Pro AR mother(carrier) reported 5 8 — ND
Neph133 LAMB2

c.4616 G > A

c.4904_4905del

p.Arg1539Gln

p.Thr1635ArgfsTer23

 AR mother(carrier)

novel

reported

137

178

105

152

rs758539618

—

ND

ND
Neph36

ADCK4

(NM_024876.3)

 c.737 G > A p.Ser246Asn AR

mother(carrier)

father(carrier)

 novel 0 526 rs200841458 HGVD:0.002
Neph56 ADCK4

c.737 G > A

c.532 C > T

p.Ser246Asn

p.Arg178Trp

 AR ND

novel

reported

287

171

281

165

rs200841458

rs398122978

HGVD:0.002

HGVD: <0.001
Neph160 ADCK4

c.532 C > T

c.737 G > A

p.Arg178Trp

p.Ser246Asn

 AR

father(carrier)

mother(carrier)

reported

reported

163

260

173

260

rs398122978

rs200841458

HGVD: <0.001

HGVD:0.002
Neph225 ADCK4

c.1468 C > T

c.737 G > A

p.Arg490Cys

p.Ser246Asn

 AR ND

novel

novel

91

159

91

159

rs750037594

rs200841458

ExAC_EAS: <0.001

HGVD:0.002
Neph19

NUP107

(NM_020401.2)

c.1079_1083del

c.2492 A > C

p.Glu360GlyfsTer6

p.Asp831Ala

 AR mother(carrier)

reported

reported

1

16

1

8

—

rs864321632

ND

HGVD: <0.001
Neph66 NUP107

c.1079_1083del

c.1547 A > G

p.Glu360GlyfsTer6

p.Gln516Arg

 AR

father(carrier)

mother(carrier)

novel

novel

19

17

12

3

 —

ND

ND
Neph147 NUP107 c.2492 A > C p.Asp831Ala AR mother(carrier) reported 0 145 rs864321632 HGVD: <0.001
Neph68

LMX1B

(NM_002316.3)

 c.544 G > A p.Asp182Asn AD ND reported 316 249 rs781341216 ExAC_EAS: <0.001
Npeh77 LMX1B c.737 G > A p.Arg246Gln AD father reported 7 5 rs1191455921 ND
Neph37

ACTN4

(NM_004924.4)

 c.671 T > C p.Leu224Pro AD de novo novel 213 236 — ND
Neph146 ACTN4 c.912 + 1 G > A AD ND 120 106 — ND
Neph129

PAX2

(NM_003987.3)

 c.71 G > C p.Gly24Ala AD ND 28 51 — ND
Neph230 PAX2 c.215 A > C p.Tyr72Ser AD de novo novel 58 59 — ND
Neph178

COL4A5

(NM_000495.4)

 c.2475_2483del p.Pro826_Gly828del X-linked ND reported 127 84 — ND
Neph204 COL4A5 c.438 + 5 G > A X-linked father reported 208 178 rs281874739 ND
Neph97

COQ6

(NM_182476.2)

c.782 C > T

heterozygous deletion

 p.Pro261Leu AR

mother(carrier)

father(carrier)

 reported 24 12 rs371260604 ExAC_EAS: <0.001
Neph79

FAT1

(NM_005245.3)

c.12867dup

c.5480_5483del

p.Glu4290ArgfsTer30

p.Gly1827ValfsTer6

 AR ND novel

179

125

135

81

 —

ND

ND
Neph189

PLCE1

(NM_016341.3)

 c.2674_2675dup p.Trp893ProfsTer3 AD parents(carrier) novel 293 303 — ND
Neph10

SMARCAL1

(NM_014140.3)

c.678_679del

c.2416 T > C

p.Gly227ValfsTer36

p.Trp806Arg

 AR

mother(carrier)

father(carrier)

novel

novel

33

79

26

77

—

—

ND

ND
Neph143

TTC21B

(NM_024753.4)

c.3225_3226insTGTCAAAG

c.379 G > A

p.Gly1076CysfsTer29

p.Ala127Thr

 AR

mother(carrier)

father(carrier)

novel

reported

19

158

11

148

—

rs769548518

ND

HGVD: <0.001
Neph216

MYH9

(NM_002473.5)

 c.2441 G > A p.Arg814Gln AD mother novel 69 79 rs760924443 ExAC_EAS: <0.001
Neph224

CUBN

(NM_001081.3)

c.10245 C > A

c.5733 + 1 G > T

 p.Tyr3415Ter AR

father(carrier)

mother(carrier)

novel

novel

151

144

68

128

 —

ND

ND
Neph236

LAMA5

(NM_005560)

c.9232 C > T

c.1282 + 1 G > A

 p.Arg3078Ter AR

father(carrier)

mother(carrier)

novel

novel

172

160

170

138

rs369268267

rs1168208619

ND

ND

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; EAS, East Asian; ExAC, Exome Aggregation Consortium; HGMD, Human Gene Mutation Database; HGVD, Human Genetic Variation Database.