Supplement 1. Distribution of Mutations Responsible for CBAVD Patients in Different Races

Supplement 1. Distribution of mutations responsible for CBAVD patients in different races mutation Population reference D565G Greece 1 △F508 Greece France Iranian Israeli Turks 1,2,7,13,14,15,19,2 Spanish Canadaian Portuguese 0,21,22,23,24,25,28 Slovenian Italian American ,30,33,34,35,36,37 M1I Greece 1 711+3A-G Greece 1 W496X Greece 1 F1052V Greece France 1,8 R668C Greece France Portuguese 1,8,15,24 3272–26A-G Greece Turks France Portuguese 1,14,15,24, L732X Greece 1 4010delTAT Greece 1 I980K France 2 G85W France 2 185+4 A-T France 3 W216X Japanese 4 G1349S Japanese 4 Q1352H Japanese France 4,15 E217G Japanese 4 I556V Japanese 5 N1303K Belgians Spanish Canadaian American 6,19,22,36,37 Israeli R347H Iranian Turks France 7,14,20,21,28,34 R553X Iranian France American 7,28 1540A/G Iranian 7 R117H Iranian Turks France Spanish Canadaian 7,13 15 19 20 21 22 Portugues Italian American Israeli 24 28 33 34 35 36 37 621+1G-T Iranian Israeli 7 13 G551D Iranian Spanish American 7 19 34 36 1717–1G-A Iranian France 7 21 G85E Iranian Spanish 7 19 R334W Iranian Israeli France Spanis Canadaian 7 13 15 19 22 24 36 Portuguese American 2789+5G-A Iranian Israeli Turks Spanis France 7 13 14 19 21 24 35 Portuguese 3120+1G-A Iranian 7 14 Turks R560T Iranian 7 1651A/G Iranian 7 G628R France 8 S1235R France Spanish Portuguese 8 19 24 R74W France Turks Spanish 8 14 15 17 19 D1270N France Spanish American 8 15 17 19 21 34 35 36 R258G France Spanish Spanish 8 19 R75L France 8 E193K France 8 R117C France Israeli 8 13 20 G149R France 8 G542X France Israeli 8 13 19 21 28 33 34 Spanish Italian 35 36 American A800G France 8 R347P American 9 22 44 Canadaian Argentine M952I Australian 10 14 15 28 Turks France D1152H Australian 10 13 14 15 28 37 Israeli Turks France Israeli R1070W France Turks Spanish 11 14 19 A1067V France 11 Y122H Iranian 12 T338A Iranian 12 K536X Iranian 12 M470V Iranian 12 23 31 Taiwanese Fance W1282X Israeli Canadaian Italian France 13 22 27 28 34 36 American L206W Israeli Spanish Canadaian France 13 19 22 28 35 36 American A198P Israeli 13 P67L Israeli 13 22 Canadaian M952T Israeli 13 19 22 Spanish Canadaian S549R Israeli Spanish 13 19 22 Canadaian D979A Israeli Canadaian 13 22 -741T-G Israeli 13 4016insT Israeli Canadaian 13 22 D110H Israeli 13 14 15 Turks France IVS8-5T Turks Canadaian Taiwanese Slovenian 14 22 23 30 31 32 France Egyptian L997F Turks France Spanish 14 15 19 CFTRdele2 Turks 14 (ins186) E831X Turks 14 1767del6 Turks 14

3041-15T-G Turks 14 3041-13del7 Turks 14

359insT Turks 14

A349V Turks 14 R334Q Turks 14 T388M Turks 14 IVS8-6T Turks 14 1677delTA Turks 14 19 22 Spanish Canadaian E585X Turks 14 I853F Turks 14 2752-15C-G Turks 14 19 Spanish G1130A Turks 14 711+1G-T France Spanish 15 19 28 35 V562I France Portuguese 15 24 D443Y France 15 20 28 G576A France Portuguese American 15 24 34 R170H France 15 V938G France 15 A959V France 15 G1069R France 15 V1153E France 15 Y1032C France 15 S977F France 15 E1473X France 15 G622D France 15 V232D France Spanish 15 19 35 V201M France Taiwanese 16 23 CFTRdele2 France 18 CFTRdele22_24 France 18 P1021S Spanish 19 D110Y Spanish 19 S50P Spanish 19 2751+3A-G Spanish 19 712-1G-T Spanish 19 △I507 Spanish 19 3121-1G-A Spanish 19 1949del84 Spanish 19 2869insG Spanish 19 S945L Spanish 19 △E115 Spanish 19 F1074L Spanish 19 A1006E Spanish 19 L383S Spanish 19 E92K Spanish 19 K1060T Spanish 19 H484Y Spanish 19 Y1014C Spanish 19 R117L Canadaian 22 N287K Taiwanese 23 c.-8G-C(125G-C) Taiwanese 23 M469I Taiwanese 23 S895N Taiwanese 23 L375F Taiwanese Caucasian 23 25 D614G Portuguese 24 P205S Portuguese 24 R1162L American 26 3372insA American 26 P499A Italian 27 P111L France 28 M244K France 28 A1364V France 28 G544V France 28 2896insAG France 28 -33G->A France 28 2184delA France 28 G1349D France 28 G1244E France 28 4279insA France 28 A1067T France 28 R764X France 28 K710X France 28 Y1092X France 28 S50Y Canadaian 29 4173delC Canadaian 29 1652del3 Slovenian 30 L541P Egyptian 32 R75Q American 34 F508C American 34 I148T American 34 A72C American 34 E804V American 34 A455E American 36 3232-26A-G American 36 Q890X American 36 1154insTC American 36 1001+5 G﹥ A Chinses (Singapore) 38 N113I France 39 H146R France 40 V392A France 40 A1081P Laotian 41 P1290S Portuguese 42 D1377H France 43 S485C Her mother is Caucasian and her father 45 is Chinese L558S Turkish 46 47 48 P750L Mexican 49 D993Y France 50 A1136T France 51 R815X American 52 580-2 A-G Belgian 53 Referance [1] Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C. 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