Table 3 Spectrum of MMR variants in Latin America LS families

MLH1

c.(?_-198)_116 +?del

1

Class 5

InSIGHT

Chile

nd

nd

nd

c.83C > T

p.Pro28Leu

1

Class 5

InSIGHT

Brazil

8.60

8.60

0

c.91_92delinsTG

p.Ala31Cys

1

Class 3

InSIGHT

Uruguay

8.60

8.60

0

c.116G > A

p.Cys39Tyr

1

Class 4

InSIGHT

Argentina

8.60

2.61

−70

c.117-1G > T

1i

Class 5

HGMD

Brazil

7.22

0.00

−100

c.117-?_207 +?del

p.Cys39^*

2

Class 5

InSIGHT

Brazil

nd

nd

nd

c.117-691_306 + 1011del

p.Cys39Trpfs^*6

2–3

Class 5

InSIGHT

Mexico

7.22

7.22

0

c.119delT

p.Leu40^*

2

Class 5

InSIGHT

Uruguay

7.22

7.25

0

c.122A > G

p.Asp41Gly

2

Class 3

InSIGHT

Brazil

7.22

7.22

0

c.199G > A

p.Gly67Arg

2

Class 5

InSIGHT

Argentina

10.45

10.45

0

c.211G > T

p.Glu71^*

3

Class 5

InSIGHT

Brazil

8.11

8.11

0

c.225delT

p.Ile75Metfs

3

Not reported/Class 5

Current study

Brazil

8.11

8.11

0

c.289 T > G

p.Tyr97Asp

3

Class 3

32

Uruguay

9.85

9.85

0

c.306 + 5G > A

3i

Class 5

UMD, HGMD

Brazil

9.85

7.20

−27

c.307-2A > G

1i

Class 5

UMD (modified from 51)

Guatemala

10.90

0.00

−100

c.332C > T

p.Ala111Val

4

Class 4

InSIGHT

Brazil

10.90

10.90

0

C.336 T > A

p.His112Gln

4

Class 3

32

Argentina

10.90

10.90

0

c.350C > T

p.Thr117Met

4

Class 5

InSIGHT

Uruguay, Argentina

8.73

8.73

0

c.421C > G

p.Pro141Ala

5

Class 3

12

Colombia

10.65

10.65

0

c.454-501_546-1098del

p.Glu153Phefs^*8

5i

Class 5

InSIGHT

Uruguay

6.39

6.39

0

c.503dupA

p.Asn168Lysfs^*4

6

Class 5

InSIGHT

Chile

8.68

8.68

0

c.503delA

p.Glu172Asnfs^*30

6

Class 5

32

Brazil

8.68

8.68

0

c.545 + 3A > G

p.Glu153Valfs^*9

6i

Class 5

InSIGHT

Brazil

8.68

4.95

−43

c.588 + 2 T > A^b

7i

Class 4

26

Brazil

9.72

0.00

−100

c.588 + 5G > C

7i

Class 3

InSIGHT

Brazil

9.72

4.33

−55

c.588 + 5G > T

7i

Not reported

Current study

Argentina

9.72

3.64

−63

c.665delA

p.Asn222Metfs^*7

8

Class 5

InSIGHT

Uruguay

9.22

9.22

0

c.676C > T

p.Arg226^*

8

Class 5

InSIGHT

Argentina, Mexico

9.22

7.12

−23

c.677G > A^c

p.Gln197Argfs^*8

8

Class 5

InSIGHT

Argentina, Brazil

9.22

5.00

−46

c.677 + 1G > A

8i

Class 4

InSIGHT

Brazil

9.22

0.00

−100

c.677 + 5G > A

8i

Class 4

UMD

Chile, Argentina

9.22

4.42

−52

c.779 T > G

p.Leu260Arg

9

Class 5

InSIGHT

Brazil

10.43

10.43

0

c.790 + 1G > A

p.Glu227_Ser295del

9i

Class 5

InSIGHT

Chile, Colombia

10.43

0.00

−100

c.791–4_795delTTAGATCGT

10

Class 5

26

Brazil

9.42

0.00

−100

c.794G > C ^d

p.Arg265Pro

10

Not reported

80

Chile

9.42

9.42

0

c.884 + 5 T > C

10i

Not reported

Current study

Argentina

9.43

10.52

12

c.888_890delAGAinsC

p.Leu296Phefs

11

Not reported/Class 5

Current study

Brazil

10.46

10.46

0

c.901C > T

p.Gln301^*

11

Class 5

InSIGHT

Chile

10.46

10.46

0

c.911delA

p.Asp304Valfs^*63

11

Not reported/Class 5

Current study

Uruguay

10.46

10.46

0

c.997_1000delAAGC

p.Lys333Serfs^*33

11

Class 5

78

Chile

7.20

7.20

0

c.1013A > G

p.Asn338Ser

11

Class 3

InSIGHT

Brazil

7.20

7.20

0

c.1023delG

p.Met342Cysfs^*25

11

Class 5

InSIGHT

Puerto Rico

7.20

7.20

0

c.1038 + 1G > T

p.Thr347PhefsX14

11i

Class 5

31

Chile

7.20

0.00

−100

c.1039-6delT

11i

Not reported

Current study

Argentina

7.50

9.13

22

c.1039-8T_1558?896Tdup

p.520Vfs564X

12–13

Class 5

23

Colombia

nd

nd

nd

c.1105dupT

12

Class 5

Modified from 51

Mexico

7.50

7.50

0

c.1225_1259del

p.Gln409^*

12

Class 5

UMD

Mexico

9.99

9.99

0

c.1276C > T

p.Gln426^*

12

Class 5

InSIGHT

Brazil

9.99

9.99

0

c.1333C > T

p.Gln445^*

12

Class 5

68

Brazil

9.99

9.99

0

c.1360G > C

p.Gly454Arg

12

Class 3

InSIGHT

Uruguay

9.99

9.99

0

c.1459C > T

p.Arg487^*

13

Class 5

InSIGHT

Brazil

11.66

11.66

0

c.1500_1502delCAT^c,d

p.Ile501del

13

Class 3

11

Brazil

9.15

9.15

0

c.1558 + 1G > T

p.Val520Glyfs^*3

13i

Class 5

InSIGHT

Brazil

9.15

0.00

−100

c.1559-2A > C^b

p.Leu521Lysfs^*34

13i

Class 4

InSIGHT

Chile

10.44

0.00

−100

c.1559-?_1731 +?del

p.Val520Glyfs^*7

14–15

Class 5

31

Chile

nd

nd

nd

c.1639_1643dupTTATA

p.Leu549Tyrfs^*44

14

Class 5

InSIGHT

Brazil

6.62

6.62

0

c.1681dupT

p.Tyr561Leufs

11

Not reported/Class 5

Current study

Brazil

8.17

8.17

0

c.1690_1693delCTCA

p.Leu564PhefsTer26

15

Class 5

InSIGHT

Brazil

8.17

8.17

0

c.1724G > A

p.Arg575Lys

15

Class 3

32

Argentina

11.78

11.78

0

c.1731 + 3A > T^b

p.(Ser556Argfs^*14)

15i

Class 4

20

Chile

11.78

5.63

−52

c.1732-?_1896 +?del

p.Pro579_Glu633del

16–17

Class 5

InSIGHT

Brazil

nd

nd

nd

c.1763 T > C

p.Leu588Pro

16

Class 3

InSIGHT

Chile

9.34

9.34

0

c.1852_1854 delAAG^d

p.Lys618del

16

Class 5

InSIGHT

Argentina, El Salvador, Mexico

3.51

3.51

0

c.1853delAinsTTCTT

p.Lys618Ilefs^*4

16

Class 5

26

Brazil

3.51

3.51

0

c.1855delG^d

p.Ala619Leufs^*18

16

Class 5

12, 36

Colombia, Puerto Rico

3.51

3.51

0

c.1863delG

p.Met621Ilefs

16

Not reported/Class 5

Current study

Brazil

3.51

3.51

0

c.1890dup^c

p.Asp631^*

16

Class 3

26

Argentina

3.51

3.51

0

c.1897-?_1989 +?del

p.Glu633_Glu663del

17

Class 5

InSIGHT

Brazil

nd

nd

nd

c.1897-?_2271 +?del

17–19

Class 5

InSIGHT

Brazil

nd

nd

nd

c.1918C > T

p.Pro640Ser

17

Class 3

InSIGHT

Colombia

6.53

6.53

0

c.1975C > T

p.Arg659^*

17

Class 5

InSIGHT

Brazil

7.70

7.70

0

c.1990–93 C > T

17i

Not reported

Current study

Argentina

5.34

5.34

0

c.1998G > A

p.Trp666^*

18

Class 5

11

Brazil

5.34

5.34

0

c.2027 T > C^c

p.Leu676Pro

18

Class 3

26

Brazil

5.34

5.34

0

c.2041G > A^*

p.Ala681Thr

18

Class 5

UMD

Chile, Brazil, Colombia

5.34

5.34

0

c.2044_2045del

p.Met682Valfs^*11

18

Class 5

34, 36

Puerto Rico

5.34

5.34

0

c.2059C > T

p.Arg687Trp

18

Class 5

InSIGHT

Brazil

8.68

8.68

0

c.2093C > G

p.Ser698^*

18

Class 5

InSIGHT

El Salvador

8.68

8.68

0

c.2092_2093delTC

p.Ser698Argfs^*5

18

Class 5

20

Chile

8.68

8.68

0

c.2103 + 1G > C

18i

Class 4

InSIGHT

Mexico

8.68

0.00

−100

c.2104-?_(*193_?)del

p.S702_X757del

19

Class 5

31

Chile

nd

nd

nd

c.2224C > T

p.Gln742^*

19

Class 5

26

Brazil

7.82

7.82

0

c.2252_2253dupAA

p.Val752Lysfs^*32

19

Class 3

InSIGHT

Brazil

7.82

7.82

0

c.2252_2253delAA

p.Lys751Serfs^*3

19

Class 5

InSIGHT

Argentina

7.82

7.82

0

MSH2

c. ^* 32 G > C

3’UTR

Not reported

Current study

Argentina

6.11

6.11

0

c.71delA

p.Gln24Argfs*40

1

Class 5

32

Brazil

10.07

10.07

0

c.96dupC

p.Thr33Hisfs*49

1

Not reported/Class 5

Current study

Brazil

10.07

10.07

0

c.112G > T

p.Asp38Tyr

1

Not reported

Current study

Chile

10.07

10.07

0

c.138C > G

p.His46Gln

1

Class 3

InSIGHT

Uruguay

10.07

10.07

0

c.166G > T

p.Glu56*

1

Class 5

InSIGHT

Argentina

10.07

10.07

0

c.174dupC^d

p.Lys59Glnfs*23

1

Class 5

32

Brazil

10.07

10.07

0

c.181C > T

p.Gln61*

1

Class 5

13

Uruguay

10.07

10.07

0

c.187delG

p.Val63*

1

Class 5

InSIGHT

Brazil

10.07

10.07

0

c.(?_-68)_211 +?del

1

Class 5

InSIGHT

Argentina

nd

nd

nd

c.(?_-68)_645 +?del

1–3

Class 5

InSIGHT

Puerto Rico

nd

nd

nd

c.(?_-68)_1076 +?del

1–6

Class 5

InSIGHT

Argentina

nd

nd

nd

c.212-?_366 +?del

p.Ala72Phefs*9

2

Class 5

InSIGHT

Chile

nd

nd

nd

c.226C > T

p.Gln76*

2

Class 5

InSIGHT, UMD

Mexico

8.51

8.51

0

c.229_230delAG

p.Ser77Cysfs*4

2

Class 5

InSIGHT

Uruguay

8.51

8.51

0

c.289C > T

p.Gln97*

2

Class 5

InSIGHT

Argentina

8.83

8.83

0

c.367-168C > T

2i

Not reported

Current study

Argentina

6.25

6.25

0

c.388_389delCA

p.Gln130Valfs*2

3

Class 5

InSIGHT

Brazil, Argentina

6.25

6.25

0

c.425C > G

p.Ser142*

3

Class 5

InSIGHT

Guatemala

6.25

6.25

0

c.435 T > G

p.Ile145Met

3

Class 3

InSIGHT

Argentina

6.25

6.25

0

c.458C > G

p.Ser153Cys

3

Class 3

37

Brazil

6.25

6.25

0

c.484G > A

p.Gly162Arg

3

Class 5

InSIGHT

Argentina

6.25

6.25

0

c.518 T > G

p.Leu173Arg

3

Class 3

InSIGHT

Brazil

9.88

9.88

0

c.528_529delTG

p.Cys176*

3

Class 5

InSIGHT

Brazil

9.88

9.88

0

c.530_531delAA

p.Glu177Valfs*3

3

Class 5

13

Uruguay

9.88

9.88

0

c.557A > G

p.Asn186Ser

3

Class 3

UMD

Uruguay

9.88

9.88

0

c.596delTG

p.Cys199Leufs*15

3

Class 5

12

Colombia

9.88

9.88

0

c.638dupT

p.Leu213fs

3

Not reported

44

Mexico

9.88

9.88

0

c.645 + 1_645 + 10delins15

3

Not reported/Class 5

Current study

Brazil

9.88

0.00

−100

c.645 + 791_1076 + 4894del

p.Ile217Glufs*28

4–6

Class 5

InSIGHT

Brazil

nd

nd

nd

c.711_727del17

p.Ile237Metfs*13

4

Not reported/Class 5

Current study

Brazil

7.79

7.79

0

c.862C > T

p.Gln288*

5

Class 5

InSIGHT

Brazil

10.35

10.35

0

c.876_877insC

5

Class 5

Modified from 36

Puerto Rico

8.59

8.59

0

c.897 T > G

p.Tyr299*

5

Class 5

31

Chile

8.59

8.59

0

Amplification of exon 5

5

Class 5

37

Brazil

nd

nd

nd

c.905 T > A

p.Leu302*

5

Class 5

InSIGHT

Puerto Rico

8.59

8.59

0

c.914_923delCAGCAGTCAG

p.Ala305Glufs*23

5

Not reported/Class 5

Current study

Argentina

8.59

8.59

0

c.942 + 3A > T

p.Val265_Gln314del

5i

Class 5

InSIGHT

Brazil

8.59

2.54

−70

c.943-1G > T

5i

Class 5

Modified from 36

Puerto Rico

9.59

0

−100

c.1046C > G

p.Pro349Arg

6

Class 5

InSIGHT

Argentina

9.81

9.81

0

c.1076 + 1_1076 + 2delGT

6i

Not reported/Class 5

Current study

Brazil

9.81

0.00

−100

c.1077-?_1276 +?del

p.Leu360Lysfs*16

7

Class 5

InSiGHT

Argentina; Uruguay; Brazil

nd

nd

nd

c.1077-135_1276 + 119dup

7

Class 5

InSiGHT

Brazil

8.92

8.92

0

c.1143_1144insA

p.Arg382Thrfs*7

7

Class 5

37

Brazil

5.25

5.25

0

c.1147C > T

p.Arg382*

7

Class 5

InSIGHT

Brazil

5.25

5.25

0

c.1165C > T

p.Arg389*

7

Class 5

InSIGHT

Colombia

5.25

5.25

0

c.1215C > A

p.Tyr405*

7

Class 5

InSIGHT

Chile

8.92

8.92

0

c.1216C > T

p.Arg406*

7

Class 5

InSIGHT

Uruguay

8.92

8.92

0

c.1224 T > A

p.Tyr408*

7

Not reported/Class 5

InSIGHT

Argentina

8.92

8.92

0

c.1226_1227delAG

p.Gln409Argfs*7

7

Class 5

InSIGHT

Brazil

8.92

8.92

0

c.1249delG

p.Val417Leufs*21

7

Class 5

InSIGHT

Brazil

8.92

8.92

0

c.1255C > T

p.Gln419*

7

Class 5

InSIGHT

Brazil

8.92

8.92

0

c.1277-?_1386 +?del

p.Lys427Glyfs*4

8

Class 5

InSiGHT

Brazil

nd

nd

nd

c.1308dupT

8

Class 5

Modified from 36

Puerto Rico

10.12

10.12

0

c.1444A > T

p.Arg482*

9

Class 5

26

Brazil

11.59

11.59

0

c.1447G > T

p.Glu483*

9

Class 5

InSIGHT

Brazil

11.59

11.59

0

c.1457_1460del

p.Asn486Thrfsx10

9

Class 5

InSIGHT

Puerto Rico

8.85

8.85

0

c.1662-2A > G

10i

Class 4

UMD, InSIGHT

Argentina

8.01

0.00

−100

c.1667delT

p. Leu556*

11

Class 5

26

Brazil

8.01

8.01

0

c.1667_1668insA

p.Thr557Aspfs*5

11

Class 5

11

Brazil

8.01

8.01

0

c.1705_1706delGA

p.Glu569Ilefs*2

11

Class 5

InSIGHT

Brazil, Puerto Rico

8.01

8.01

0

c.1738G > T

p.Glu580*

11

Class 5

InSIGHT

Brazil

7.82

7.82

0

c.1759 + 1G > A

11i

Class 4

InSIGHT

Puerto Rico

7.82

0.00

−100

c.1759 + 57G > T

11i

Not reported

Current study

Argentina

7.82

7.82

0

c.1777C > T

p.Gln593*

12

Class 5

InSIGHT, UMD

Mexico

9.05

9.05

0

c.1786_1788delAAT

p.Asn596del

12

Class 5

InSIGHT

Brazil

9.05

9.05

0

c.1861C > T

p.Arg621*

12

Class 5

InSIGHT, UMD

Argentina, Brazil

9.05

9.05

0

c.1864C > A

p.Pro622Thr

12

Class 3

14

Argentina

9.05

9.05

0

c.1865C > G

p.Pro622Arg

12

Not reported

InSIGHT

Argentina

9.05

9.05

0

c.1911delC^d

p.Arg638Glyfs*47

12

Class 5

17

Argentina

4.78

4.78

0

c.1967_1970dupACTT

p.Phe657Leufs*3

12

Class 5

26

Brazil

4.78

4.78

0

c.2038C > T

p.Arg680*

13

Class 5

InSIGHT

Chile

8.23

8.23

0

c.2046_2047delTG

p.Val684AspfsX14

13

Class 5

InSIGHT

Argentina

8.23

8.23

0

c.2078G > A

p.Cys693Tyr

13

Not reported

Current study

Brazil

8.23

8.23

0

c.2131C > T

p.Arg711*

13

Class 5

InSIGHT

Argentina, Brazil, Chile

10.86

10.86

0

c.2145del

p.Asp716Thrfs*4

13

Class 5

37

Brazil

10.86

10.86

0

c.2152C > T

p.Gln718*

13

Class 5

InSIGHT

Brazil

10.86

10.86

0

c.2178_2179insA

13

Class 5

Modified from 51

Mexico

10.86

10.86

0

c.2185_2192del7insCCCT

p.M729_E731delinsP729_X730

13

Class 5

20

Chile

10.86

10.86

0

c.2187G > T

p.Met729Ile

13

Class 3

26

Brazil

10.86

10.86

0

c.2211-?_2458 +?del

p.Ser738Cysfs*3

14

Class 5

InSIGHT

Brazil

nd

nd

nd

c.2525_2526delAG

p.Glu842Valfs*3

15

Class 5

26

Brazil

9.97

9.97

0

c.2785C > T

p.Arg929*

16

Class 5

26

Brazil, Uruguay

6.11

6.11

0

EPCAM-MSH2

EPCAM-MSH2 (exon1–4) deletion

1–4

Class 5

37

Brazil

nd

nd

nd

c.583C > G

p.Leu195Val

6

Not reported

Current study

Uruguay

nd

nd

nd

c.555 + 402_*1220del

6–9

Not reported/Class 5

LOVD

Chile

nd

nd

nd

EPCAM:c.(?_1)_(945_?)_MSH2:c.(?_1)_(1076_?)

1–6

Class 5

31

Chile

nd

nd

nd

MSH6

c.23_26delACAG

p.Tyr8SerfsTer8

1

Not reported/Class 5

Current study

Brazil

7.38

7.38

0

c.44C > T

p.Pro15Leu

1

Class 3

ClinVar

Uruguay

7.38

7.38

0

c.124C > T

p.Pro42Leu

1

Class 3

37

Brazil

7.38

7.38

0

c.457 + 32del

2i

Not reported

Current study

Argentina

10.77

10.77

0

c.458-?_3172del

p.Gly153_Leu1057del

3–4

Class 5

32

Uruguay

nd

nd

nd

c.663A > C

p.Glu221Asp

4

Class 3

InSIGHT

Uruguay; Argentina

10.87

10.87

0

c.733A > T^*

p.Ile245Leu

4

Conflicting interpretations of pathogenicity

UMD, Insight

Uruguay

10.87

10.87

0

c.1133_1134delGA

p.Arg378Lysfs*3

4

Not reported/Class 5

Current study

Brazil

10.87

10.87

0

c.1338A > T

p.Glu446Asp

4

Class 3

37

Brazil

10.87

10.87

0

c.1483C > T

p.Arg495*

4

Class 5

InSIGHT

Brazil

10.87

10.87

0

c.1519dupA

p.Arg507Lysfs*9

4

Class 5

UMD

Brazil

10.87

10.87

0

c.1591C > A

p.Pro531Thr

4

Class 3

UMD, ClinVAr

Uruguay

10.87

10.87

0

c.1913delInsAGA

p.Leu638GlnfsX11

4

Not reported/Class 5

Current study

Brazil

8.91

8.91

0

c.1932G > C

p.Arg644Ser

4

Class 3

37

Brazil

8.91

8.91

0

c.2194C > T

p.Arg732*

4

Class 5

InSIGHT

Brazil

8.91

8.91

0

c.2308_2312delinsT

p.Gly770Cysfs*4

4

Class 5

UMD

Uruguay

8.91

8.91

0

c.2332_2335dupCTTT

p.Cys779Serfs

4

Not reported/Class 5

Current study

Brazil

8.91

8.91

0

c.2379_2380delTG

p.Ala794Hisfs*9

4

Class 5

37

Brazil

nd

nd

nd

c.2659delC

p.Lys888Serfs*18

4

Not reported/Class 5

Current study

Brazil

8.91

8.91

0

c.2983G > T

p.Glu995*

4

Class 5

InSIGHT

Brazil

8.91

8.91

0

c.3023C > T

p.Thr1008Ile

4

Not reported

Current study

Argentina

8.91

8.91

0

c.3119_3120delTT

p.Phe1040*

4

Class 5

InSIGHT

Puerto Rico

8.91

8.91

0

c.3487G > T

p.Glu1163*

6

Class 5

37

Brazil

10.55

10.55

0

c.3557-144G > A

6i

Not reported

Current study

Argentina

10.29

10.29

0

c.3557-185C > T

6i

Not reported

Current study

Argentina

10.29

10.29

0

c.3632 T > C

p.Leu1211Pro

7

Class 5

InSIGHT

Brazil

9.14

9.14

0

c.3646 + 91 T > C

6

Not reported

Current study

Argentina

nd

nd

nd

c.3772C > G

p.Gln1258Glu

8

Not reported

Current study

Brazil

8.35

8.35

0

c.3974_3976delAGA

p.K1325del

9

Class 3

37

Brazil

6.25

6.25

0

c.4071ins4

10

Class 3

51

Mexico

nd

nd

nd

PMS2

c.23 + 72C > T

1i

Class 3

InSIGHT

Argentina

8.70

8.70

0

c.537 + 187A > G

5i

Not reported

Current study

Argentina

8.04

8.04

0

c.697C > T

p.Gln233*

6

Class 5

InSIGHT

Brazil

6.13

6.13

0

c.804-1G > T

8i

Not reported/Class 5

Current study

Colombia

3.54

0.00

−100

c.903 + 84 C > T

8i

Not reported

Current study

Argentina

7.64

7.64

0

c.903 + 100 T > G

8i

Not reported

Current study

Argentina

7.64

7.64

0

c.903 + 144G > T

8i

Not reported

Current study

Argentina

7.64

7.64

0

c.1004A > G

p.Asn335Ser

10

Class 3

ClinVar

Uruguay

10.00

10.00

0

c.1144G > C

p.Gly382Arg

10

Class 3

37

Brazil

10.57

7.69

−27

c.1211C > G

p.Pro404Arg

11

Class 3

37

Brazil

7.77

7.77

0

c.1239dup

p.Asp414Argfs*44

11

Class 5

37

Brazil

7.77

7.77

0

c.1437C > G

p.His479Gln

11

Class 3

InSIGHT

Argentina

7.77

7.77

0

c.1831dupA

p.Ile611Asnfs*2

11

Class 5

InSIGHT

Argentina

9.06

9.06

0

c.2016delG

p.Met672Ilefs*16

12

Class 5

31

Chile

8.61

8.61

0

c.2036 T > C

p.Ile679Thr

12

Class 3

37

Brazil

nd

nd

nd

c.2182_2184delinsG

p.Thr728Alafs*7

13

Class 5

HGMD

Brazil

nd

nd

nd

c.2192_2196delTAACT

p.Leu731Cysfs*3

13

Class 5

InSIGHT

Brazil

10.75

10.75

0

c.2264 T > C

p.Ile755Thr

13

Class 3

37

Brazil

nd

nd

nd

c.2276-?_2445 +?del

p.Ala759Glyfs*8

14

Class 5

InSIGHT

Chile

nd

nd

nd