Table 2 KCNJ10 and FOXI1 mutations identified in patients with monoallelic mutations in SLC26A4

25215

c.1001 + 1G > A

N

N

25278

c.1790T > C

p.Leu597Ser

N

N

34515

c.716T > A

p. Val239Asp

N

N

28979

c.1061T > C

p.Phe354Ser

N

N

35265

c.707T > C

p.Leu236Pro

N

N

40257

c.1001 + 1G > A

N

N

37952

c.1151A > G

p.Glu384Gly

N

N

38201

c.1790T > C

p.Leu597Ser

N

N

42836

c.707T > C

p.Leu236Pro

N

N

42564

(c.1234G > A

p.Val412Ile)

N

N

41066

c.1001 + 1G > A

N

N

40187

c.412G > T

p.Val138Phe

N

N

44595

c.2127delT

p.Phe709Leufs*12

N

c.811C > T (p.Arg271Cys)/N

45381

c.1790T > C

p.Leu597Ser

N

N

13343

c.1342-2_1343dup

p.Leu450Glyfs*19

N

N

45592

c.340G > A

p.Gly114Arg

N

N

48799

c.1001 + 1G > A

N

N

46182

c.707T > C

p.Leu236Pro

N

N

50939

c.2190G > T

p.Gln730His

N

N

51079

c.707T > C

p.Leu236Pro

N

N

54165

c.2T > C

p.Met1?

N

N

59858

c.2080T > C

p.Ser694Pro

N

N

61452

c.412G > T

p.Val138Phe

N

N

54483

c.1790T > C

p.Leu597Ser

N

N

63420

c.1151A > G

p.Glu384Gly

N

N

65983

c.1211C > T

p.Thr404Ile

N

N

50886

c.1151A > G

p.Glu384Gly

N

N

66609

c.-3-2A > G

N

N

66643

c.[1001 + 1G > A(;) 2219C > T]

(p.Gly740Val)

N

N

66830

c.1790T > C

p.Leu597Ser

N

N

69863

c.113T > C

p.Phe335Leu

N

N

47141

c.1790T > C

p.Leu597Ser

N

N

72446

c.-3-2A > G

N

N

72770

c.412G > T

p.Val138Phe

N

N

72617

c.1151A > G

p.Glu384Gly

N

N

76349

c.1790T > C

p.Leu597Ser

N

N

76715

c.1826T > G

p.Val609Gly

N

N

78124

c.1468A > C

p.Ile490Leu

N

N

78231

c.1001 + 1G > A

N

N

23853

c.2T > C

p.Met1?

N

N

71753

c.1342-2_1343dup

p.Leu450Glyfs*19

N

N

72950

c.1229C > T

p.Thr410Met

N

N

79945

(c.2219C > T)

(p.Gly740Val)

c.367C > T(p.Arg123Trp)

N

80435

c.707T > C

p.Leu236Pro

N

N

10576

c.[1343C > T]; [1991C > T]

p.[Ser448Leu]; [Ala664Ser]

N

N

83112

c.1790T > C

p.Leu597Ser

N

N

84175

c.119delT (c.918G > A)

p.Leu40ArgfsX26

N

N

86297

c.2153G > T

p.Phe718Ser

N

c.53G > A (p.Arg18Gln)/N

86482

c.707T > C

p.Leu236Pro

N

N

85020

c.1234G > T

p.Gln421Arg

N

N

83883

c.1790T > C

p. Leu597Ser

N

N

87823

c.1790T > C

p. Leu597Ser

N

N

84236

(c.73C > T)

(p.Pro25Ser)

N

N

88933

c.1151A > G

p.Glu384Gly

N

N

89770

c.1001 + 1G > A

N

N

90473

c.1790T > C

p.Leu597Ser

N

c.811C > T (p.Arg271Cys) /N

90511

c.1003T > C

p.Phe335Leu

N

c.811C > T (p.Arg271Cys) /N

90643

(c.970A > T)

(p.Asn324Tyr)

N

N

91820

c.1790T > C

p.Leu597Ser

N

N

40013

c.1000G > T

p.Gly334Trp

N

N

89620

c.[1790T > C(;) 412G > T]

p.[Val138Phe(;) (Leu597Ser)]

N

N

94065

c.1342-2_1343dup

p.Leu450Glyfs*19

N

N

89792

c.-103T > C

N

N

94743

c.1003T > C

p.Phe335Leu

N

N

96669

c.2015G > A

p.Gly672Glu

N

N

95020

c.1363A > T

p.Ile455Phe

N

N

99311

c.626G > T

p.Gly209Val

N

N

99458

c.1334T > G

p.Leu445Trp

N

N