Table 1 The reported variants in SLC22A5 associated with Carnitine deficiency phenotypes

1

c.34G > A

p.Gly12Ser

rs139203363

28.3

LP

Missense

[1]

2

c.3G > T

p.Met1Ile

rs121908892

23.4

LP

Missense

[2]

3

c.12 C > G

p.Tyr4Ter

rs72552722

42

P

Nonsense

[3]

4

c.43G > T

p.Gly15Trp

rs267607052

32

P

Missense

[4]

5

c.47 C > T

p.Pro16Leu

-

21.5

LP

-

[5]

6

c.51 C > G

p.Phe17Leu

rs11568520

24.6

P

Missense

[6]

7

c.56G > C

p.Arg19Pro

rs72552723

25.0

P

Missense

[3]

8

c.77G > A

p.Ser26Asn

rs772578415

22.9

P

Missense

[7]

9

c.83G > T

p.Ser28Ile

rs72552724

25.0

P

Missense

[8]

10

c.95 A > G

p.Asn32Ser

rs72552725

24.7

P

Missense

[9]

11

c.131 C > T

p.Ala44Val

rs199689597

7.4

P

Missense

[10]

12

c.137 C > T

p.Pro46Leu

rs377767445

27.8

P

Missense

[5]

13

c.136 C > T

p.Pro46Ser

rs202088921

26.3

P

Missense

[11]

14

c.149G > A

p.Cys50Tyr

-

29.2

LP

-

[5]

15

c.185G > A

p.Trp62Ter

rs1554085942

42

P

Nonsense

[12]

16

c.196 A > C

p.Thr66Pro

-

24.0

VUS

Missense

[1]

17

c.224G > C

p.Arg75Pro

rs757711838

20.3

VUS

-

[1]

18

c.248G > T

p.Arg83Leu

rs72552726

31

P

Missense

[13]

19

c.278 C > G

p.Ser93Trp

rs386134190

31

LP

-

[5]

20

c.287G > C

p.Gly96Ala

rs377767450

27.8

VUS

Missense

[1]

21

c.338G > A

p.Cys113Tyr

rs727504159

32

P

Missense

[14]

22

c.344 A > G

p.Asp115Gly

rs386134192

33

VUS

Missense

[5]

23

c.350G > A

p.Trp117Ter

-

44

P

Nonsense

[1]

24

c.364G > T

p.Asp122Tyr

rs201082652

33

P

Missense

[1]

25

c.368T > G

p.Val123Gly

rs748605096

24.3

VUS

Missense

[1]

26

c.395G > A

p.Trp132Ter

rs886041277

51

P

Nonsense

[15]

27

c.420G > A

p.Trp140Ter

-

41

P

Nonsense

[5]

28

c.424G > T

p.Ala142Ser

rs151231558

14.5

P

Missense

[16]

29

c.428 C > T

p.Pro143Leu

rs1178584184

25.4

P

Missense

[6]

30

c.447 C > G

p.Phe149Leu

rs780989844

22.8

VUS

Missense

[17]

31

c.506G > A

p.Arg169Gln

rs121908889

31

P

Missense

[18]

32

c.506G > C

p.Arg169Pro

rs121908889

31

LP

Missense

[5]

33

c.505 C > T

p.Arg169Trp

rs121908890

29.6

P

Missense

[3]

34

c.523G > A

p.Val175Met

rs781721860

16.7

VUS

Missense

[5]

35

c.529 A > G

p.Met177Val

rs145068530

22.3

LP

Missense

[1]

36

c.535 A > T

p.Met179Leu

rs386134196

16.2

VUS

Missense

[19]

37

c.557T > C

p.Leu186Pro

rs386134197

25.8

LP

Missense

[1]

38

c.614T > G

p.Met205Arg

rs796052033

26.4

P

Missense

[5]

39

c.629 A > G

p.Asn210Ser

rs386134198

23.1

P

Missense

[5]

40

c.632 A > G

p.Tyr211Cys

rs121908888

29.3

P

Missense

[20]

41

c.641 C > T

p.Ala214Val

rs386134199

28.2

LP

Missense

[4]

42

c.674 C > T

p.Ser225Leu

rs386134205

24.3

LP

-

[5]

43

c.680G > A

p.Arg227His

rs185551386

32

P

-

[1]

44

c.688T > C

p.Phe230Leu

rs756650860

28.6

P

Missense

[1]

45

c.692 C > T

p.Ser231Phe

rs386134206

24.2

VUS

Missense

[5]

46

c.695 C > T

p.Thr232Met

rs114269482

27.4

P

Missense

[2]

47

c.700G > C

p.Gly234Arg

rs1457258524

28.3

LP

-

[6]

48

c.718G > A

p.Ala240Thr

-

22.6

LP

-

[1]

49

c.725G > T

p.Gly242Val

rs72552728

28.3

LP

Missense

[3]

50

c.740 C > G

p.Pro247Arg

-

26.7

P

Missense

[5]

51

c.761G > A

p.Arg254Gln

rs200699819

31

P

Missense

[17]

52

c.760 C > T

p.Arg254Ter

rs121908893

35

P

Nonsense

[21]

53

c.769 C > T

p.Arg257Trp

rs386134203

25.5

LP

Missense

[1]

54

c.791 C > G

p.Thr264Arg

rs201262157

24.8

P

Missense

[1]

55

c.797 C > T

p.Pro266Leu

rs538372785

24.1

P

Missense

[22]

56

c.825G > A

p.Trp275Ter

rs386134207

49

P

Nonsense

[2]

57

c.839 C > T

p.Ser280Phe

rs386134208

28.7

P

Missense

[23]

58

c.845G > A

p.Arg282Gln

rs386134210

32

P

Missense

[16]

59

c.844 C > T

p.Arg282Ter

rs121908886

39

P

Nonsense

[24]

60

c.847T > C

p.Trp283Arg

rs72552729

30

LP

Missense

[16]

61

c.849G > T

p.Trp283Cys

rs386134211

34

LP

-

[19]

62

c.865 C > T

p.Arg289Ter

rs386134212

36

P

Nonsense

[2]

63

c.902 C > A

p.Ala301Asp

rs72552730

26.9

LP

Missense

[25]

64

c.976 C > T

p.Gln326Ter

rs1047810495

37

P

Nonsense

[26]

65

c.1051T > C

p.Trp351Arg

rs68018207

33

VUS

Missense

[25]

66

c.1064 C > T

p.Ser355Leu

rs1385634398

24.1

VUS

-

[1]

67

c.1072T > A

p.Tyr358Asn

rs61731073

31

P

Missense

[1]

68

c.1085 C > T

p.Ser362Leu

rs886042092

27.1

VUS

Missense

[6]

69

c.1088T > C

p.Leu363Pro

rs386134214

29.5

LP

Missense

[27]

70

c.1139 C > T

p.Ala380Val

rs746187344

23.5

LP

Missense

[22]

71

c.1159T > C

p.Tyr387His

-

27.0

LP

Missense

[17]

72

c.1188T > G

p.Tyr396Ter

rs1057519051

33

P

Nonsense

[6]

73

c.1193 C > T

p.Pro398Leu

rs144547521

25.7

P

Missense

[16]

74

c.1196G > A

p.Arg399Gln

rs121908891

29.8

P

Missense

[3]

75

c.1195 C > T

p.Arg399Trp

rs267607054

27.4

P

Missense

[4]

76

c.1232G > T

p.Gly411Val

-

28.0

VUS

Missense

[28]

77

c.1313G > A

p.Gly438Glu

rs1580894230

26.8

P

Missense

[29]

78

c.1316T > G

p.Val439Gly

-

27.4

LP

-

[5]

79

c.1319 C > T

p.Thr440Met

rs72552732

25.6

P

Missense

[9]

80

c.1327T > G

p.Phe443Val

-

24.2

LP

-

[1]

81

c.1336G > T

p.Val446Phe

rs72552733

25.8

P

Missense

[30]

82

c.1340 A > G

p.Tyr447Cys

rs386134218

28.1

P

Missense

[8]

83

c.1342G > T

p.Val448Leu

rs386134219

23.3

LP

-

[5]

84

c.1345T > G

p.Tyr449Asp

rs11568514

27.3

LP

Missense

[2]

85

c.1354G > A

p.Glu452Lys

rs72552734

29.6

P

Missense

[25]

86

c.1364 C > G

p.Pro455Arg

rs1408166345

25.9

P

Missense

[1]

87

c.1385G > A

p.Gly462Asp

-

25.6

LP

Missense

[31]

88

c.1385G > T

p.Gly462Val

-

23.6

LP

Missense

[5]

89

c.1400 C > G

p.Ser467Cys

rs60376624

25.7

P

Missense

[19]

90

c.1403 C > G

p.Thr468Arg

rs386134221

20.7

P

Missense

[9]

91

c.1409 C > T

p.Ser470Phe

rs386134222

26.6

P

Missense

[9]

92

c.1412G > A

p.Arg471His

rs386134223

31

P

Missense

[32]

93

c.1412G > C

p.Arg471Pro

-

32

LP

Missense

[7]

94

c.1411 C > T

p.Arg471Cys

rs749282641

27.0

P

Missense

[6]

95

c.1427T > G

p.Leu476Arg

-

26.6

LP

-

[33]

96

c.1433 C > T

p.Pro478Leu

rs72552735

27.7

LP

Missense

[34]

97

c.1458 C > G

p.Tyr486Ter

rs763224132

33

P

Nonsense

[35]

98

c.1463G > A

p.Arg488His

rs28383481

27.6

LP

Missense

[16]

99

c.1462 C > T

p.Arg488Cys

rs377216516

27

P

Missense

[11]

100

c.1520T > C

p.Leu507Ser

rs1157198543

28.9

LP

-

[1]

101

c.1645 C > T

p.Pro549Ser

rs11568525

18.2

B

Missense

[36]

102

c.393 + 5G > A

-

rs1554086029

24.2

VUS

Intron

[14]

103

c.394-16T > A

-

rs775097754

22.5

LP

Intron

[7]

104

c.497 + 1G > T

-

-

35

P

Splice donor variant

[14]

105

c.653-2 A > C

-

rs386134201

34

P

Splice donor variant

[5]

106

c.825-52G > A

-

rs1194929977

0.4

LP

Intron

[10]

107

c.1451-1G > A

-

rs386134224

33

P

Splice donor variant

[15]

108

c.67_69delTTC

p.Phe23del

rs377767444

37

P

Deletion

[9]

109

c.234_234delC

p.His79Thrfs*51

rs377767447

24.6

P

Deletion

[16]

110

c.235_238delCACA

p.His79Alafs*50

-

25

LP

Deletion

[37]

111

c.458_459delTG

p.Val153Alafs*41

rs386134195

32

P

Deletion

[2]

112

c.517_517delC

p.Leu173Cys fs*3

-

29.6

LP

Deletion

[14]

113

c.565_568delTTCT

p.Phe189Argfs*14

-

31

LP

Deletion

[5]

114

c.573_573delG

p.Asn192Ilefs*12

-

27.8

LP

Deletion

[1]

115

c.597_597delG

p.Phe200Leufs*4

-

29.8

LP

Deletion

[38]

116

c.745_748delTTTG

p.Phe249Leufs*14

-

31

LP

Deletion

[14]

117

c.806_806delT

p.Leu269Hisfs*27

rs386134204

23.5

P

Deletion

[39]

118

c.919_919delG

p.Val307Leufs*15

-

18

P

Deletion

[26]

119

c.1009_1009delA

p.Thr337Profs*12

rs386134213

28.3

LP

Deletion

[9]

120

c.1175_1177delTGC

-

-

28

Deletion

[5]

121

c.1303_1303delG

p.Gly435Alafs*24

rs386134217

33

P

Deletion

[24]

122

c.1304_1313delTGGGCAAGTT

p.Gly435Glufs*21

-

36

Deletion

[1]

123

c.1372_1372delG

p.Val458*

-

33

Deletion

[14]

124

c.4_5insC

p.Arg2Profs*136

rs377767443

28

P

Insertion

[15]

125

c.264_265insGGCTCGCCACC

p.Ile89Glyfs*45

-

36

Insertion

[3]

126

c.433_434insC

p.Ile146Asnfs*49

-

28.7

Insertion

[14]

127

c.1202_1203insA

p.Tyr401*

rs121908887

24

P

Insertion

[24]

128

c.1316_1317insT

p.Thr440Hisfs*83

-

28

Insertion

[40]

129

c.1556_1559insACAC

p.Ile521Hisfs*3

rs386134225

31

P

Insertion

[11]

130

c.1324_1325delinsAT

p.Ala442Ile

rs267607053

38.2

P

Indels

[4]

131

c.1392_1409delinsCA

p.Val465Thrfs*29

rs386134220

35

LP

Indels

[5]