Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117607926_117616824del | CA1139532136 | CFTR | c.2988+1173_3468+2111del c.*2702+1173_*3182+2111del c.2805+1173_3285+2111del c.*1288+1173_*1843+2111del c.2988+1173_3462+2111del c.*2812+1173_*3292+2111del c.2562+1173_3042+2111del c.579+1173_1059+2111del c.638+1173_1118+2111del c.1770+1173_2250+2111del c.2898+1173_3378+2111del c.3078+1173_3558+2111del c.2745+1173_3225+2111del | |
7 | g.117610519_117614713del | CA913189831 | CFTR | c.2989_3468del c.*2703_*3182del c.2806_3285del c.*1289_*1843del c.2989_3462del c.*2813_*3292del c.2563_3042del c.580_1059del c.639_1118del c.1771_2250del c.2899_3378del c.3079_3558del c.2746_3225del | ClinVar |
7 | g.117611582_117614714del | CA913189834 | CFTR | c.3141_3468+1del c.*2855_*3182+1del c.2958_3285+1del c.*1441_*1843+1del c.3141_3462+1del c.*2965_*3292+1del c.2715_3042+1del c.732_1059+1del c.791_1118+1del c.1923_2250+1del c.3051_3378+1del c.3231_3558+1del c.2898_3225+1del | ClinVar |
7 | g.117614621_117614626dup | CA645509186 | CFTR | c.3376_3381dup c.*3090_*3095dup c.3193_3198dup c.*1751_*1756dup (n.*1751_*1756dup) c.3370_3375dup c.*3200_*3205dup c.2950_2955dup c.124_129dup c.967_972dup c.1026_1031dup c.2158_2163dup c.3286_3291dup c.201_206dup c.3466_3471dup c.3133_3138dup | ClinVar dbSNP gnomAD v4 |
7 | g.117614621_117614626del | CA2579000295 | CFTR | c.3376_3381del c.*3090_*3095del c.3193_3198del c.*1751_*1756del (n.*1751_*1756del) c.3370_3375del c.*3200_*3205del c.2950_2955del c.124_129del c.967_972del c.1026_1031del c.2158_2163del c.3286_3291del c.201_206del c.3466_3471del c.3133_3138del | ClinVar dbSNP gnomAD v4 |
7 | g.117614619_117614621del | CA2684619891 | CFTR | c.3374_3376del (p.Gly1125del) c.*3088_*3090del (n.*3088_*3090del) c.3191_3193del (p.Gly1064del) c.*1749_*1751del (n.*1749_*1751del) c.3368_3370del c.*3198_*3200del (n.*3198_*3200del) c.2948_2950del (p.Gly983del) c.122_124del (p.Gly41del) c.965_967del (p.Gly322del) c.1024_1026del c.2156_2158del (p.Gly719del) c.3284_3286del (p.Gly1095del) c.199_201del c.3464_3466del (p.Gly1155del) c.3131_3133del (p.Gly1044del) | gnomAD v4 |
7 | g.117614620_117614624delinsAGAAG | CA1737391950 | CFTR | c.3375_3379delinsAGAAG (p.Gly1125=) c.*3089_*3093delinsAGAAG (n.*3089_*3093delinsAGAAG) c.3192_3196delinsAGAAG (p.Gly1064=) c.*1750_*1754delinsAGAAG (n.*1750_*1754delinsAGAAG) c.3369_3373delinsAGAAG (p.Gly1123=) c.*3199_*3203delinsAGAAG (n.*3199_*3203delinsAGAAG) c.2949_2953delinsAGAAG (p.Gly983=) c.123_127delinsAGAAG (p.Gly41=) c.966_970delinsAGAAG (p.Gly322=) c.1025_1029delinsAGAAG c.2157_2161delinsAGAAG (p.Gly719=) c.3285_3289delinsAGAAG (p.Gly1095=) c.200_204delinsAGAAG c.3465_3469delinsAGAAG (p.Gly1155=) c.3132_3136delinsAGAAG (p.Gly1044=) | |
7 | g.117614621G>A | CA368993291 | CFTR | c.3376G>A (p.Glu1126Lys) c.*3090G>A (n.*3090G>A) c.3193G>A (p.Glu1065Lys) c.*1751G>A (n.*1751G>A) c.3370G>A (p.Glu1124Lys) c.*3200G>A (n.*3200G>A) c.2950G>A (p.Glu984Lys) c.124G>A (p.Glu42Lys) c.967G>A (p.Glu323Lys) c.1026G>A c.2158G>A (p.Glu720Lys) c.3286G>A (p.Glu1096Lys) c.201G>A c.3466G>A (p.Glu1156Lys) c.3133G>A (p.Glu1045Lys) | |
7 | g.117614621G>C | CA368993288 | CFTR | c.3376G>C (p.Glu1126Gln) c.*3090G>C (n.*3090G>C) c.3193G>C (p.Glu1065Gln) c.*1751G>C (n.*1751G>C) c.3370G>C (p.Glu1124Gln) c.*3200G>C (n.*3200G>C) c.2950G>C (p.Glu984Gln) c.124G>C (p.Glu42Gln) c.967G>C (p.Glu323Gln) c.1026G>C c.2158G>C (p.Glu720Gln) c.3286G>C (p.Glu1096Gln) c.201G>C c.3466G>C (p.Glu1156Gln) c.3133G>C (p.Glu1045Gln) | |
7 | g.117614621G>T | CA368993287 | CFTR | c.3376G>T (p.Glu1126Ter) c.*3090G>T (n.*3090G>T) c.3193G>T (p.Glu1065Ter) c.*1751G>T (n.*1751G>T) c.3370G>T (p.Glu1124Ter) c.*3200G>T (n.*3200G>T) c.2950G>T (p.Glu984Ter) c.124G>T (p.Glu42Ter) c.967G>T (p.Glu323Ter) c.1026G>T c.2158G>T (p.Glu720Ter) c.3286G>T (p.Glu1096Ter) c.201G>T c.3466G>T (p.Glu1156Ter) c.3133G>T (p.Glu1045Ter) | |
7 | g.117614625_117614628del | CA577222848 | CFTR | c.3380_3383del (p.Gly1127GlufsTer6) c.*3094_*3097del (n.*3094_*3097del) c.3197_3200del (p.Gly1066GlufsTer6) c.*1755_*1758del (n.*1755_*1758del) c.3374_3377del (p.Gly1125GlufsTer6) c.*3204_*3207del (n.*3204_*3207del) c.2954_2957del (p.Gly985GlufsTer6) c.128_131del (p.Gly43GlufsTer6) c.971_974del (p.Gly324GlufsTer6) c.1030_1033del c.2162_2165del (p.Gly721GlufsTer6) c.3290_3293del (p.Gly1097GlufsTer6) c.205_208del c.3470_3473del (p.Gly1157GlufsTer6) c.3137_3140del (p.Gly1046GlufsTer6) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614622A>C | CA368993299 | CFTR | c.3377A>C (p.Glu1126Ala) c.*3091A>C (n.*3091A>C) c.3194A>C (p.Glu1065Ala) c.*1752A>C (n.*1752A>C) c.3371A>C (p.Glu1124Ala) c.*3201A>C (n.*3201A>C) c.2951A>C (p.Glu984Ala) c.125A>C (p.Glu42Ala) c.968A>C (p.Glu323Ala) c.1027A>C c.2159A>C (p.Glu720Ala) c.3287A>C (p.Glu1096Ala) c.202A>C c.3467A>C (p.Glu1156Ala) c.3134A>C (p.Glu1045Ala) | |
7 | g.117614622A>G | CA368993294 | CFTR | c.3377A>G (p.Glu1126Gly) c.*3091A>G (n.*3091A>G) c.3194A>G (p.Glu1065Gly) c.*1752A>G (n.*1752A>G) c.3371A>G (p.Glu1124Gly) c.*3201A>G (n.*3201A>G) c.2951A>G (p.Glu984Gly) c.125A>G (p.Glu42Gly) c.968A>G (p.Glu323Gly) c.1027A>G c.2159A>G (p.Glu720Gly) c.3287A>G (p.Glu1096Gly) c.202A>G c.3467A>G (p.Glu1156Gly) c.3134A>G (p.Glu1045Gly) | |
7 | g.117614622A>T | CA368993296 | CFTR | c.3377A>T (p.Glu1126Val) c.*3091A>T (n.*3091A>T) c.3194A>T (p.Glu1065Val) c.*1752A>T (n.*1752A>T) c.3371A>T (p.Glu1124Val) c.*3201A>T (n.*3201A>T) c.2951A>T (p.Glu984Val) c.125A>T (p.Glu42Val) c.968A>T (p.Glu323Val) c.1027A>T c.2159A>T (p.Glu720Val) c.3287A>T (p.Glu1096Val) c.202A>T c.3467A>T (p.Glu1156Val) c.3134A>T (p.Glu1045Val) | |
7 | g.117614623A>C | CA368993302 | CFTR | c.3378A>C (p.Glu1126Asp) c.*3092A>C (n.*3092A>C) c.3195A>C (p.Glu1065Asp) c.*1753A>C (n.*1753A>C) c.3372A>C (p.Glu1124Asp) c.*3202A>C (n.*3202A>C) c.2952A>C (p.Glu984Asp) c.126A>C (p.Glu42Asp) c.969A>C (p.Glu323Asp) c.1028A>C c.2160A>C (p.Glu720Asp) c.3288A>C (p.Glu1096Asp) c.203A>C c.3468A>C (p.Glu1156Asp) c.3135A>C (p.Glu1045Asp) | |
7 | g.117614623A>G | CA457230152 | CFTR | c.3378A>G (p.Glu1126=) c.*3092A>G (n.*3092A>G) c.3195A>G (p.Glu1065=) c.*1753A>G (n.*1753A>G) c.3372A>G (p.Glu1124=) c.*3202A>G (n.*3202A>G) c.2952A>G (p.Glu984=) c.126A>G (p.Glu42=) c.969A>G (p.Glu323=) c.1028A>G c.2160A>G (p.Glu720=) c.3288A>G (p.Glu1096=) c.203A>G c.3468A>G (p.Glu1156=) c.3135A>G (p.Glu1045=) | |
7 | g.117614623A>T | CA368993303 | CFTR | c.3378A>T (p.Glu1126Asp) c.*3092A>T (n.*3092A>T) c.3195A>T (p.Glu1065Asp) c.*1753A>T (n.*1753A>T) c.3372A>T (p.Glu1124Asp) c.*3202A>T (n.*3202A>T) c.2952A>T (p.Glu984Asp) c.126A>T (p.Glu42Asp) c.969A>T (p.Glu323Asp) c.1028A>T c.2160A>T (p.Glu720Asp) c.3288A>T (p.Glu1096Asp) c.203A>T c.3468A>T (p.Glu1156Asp) c.3135A>T (p.Glu1045Asp) | |
7 | g.117614624G>A | CA368993307 | CFTR | c.3379G>A (p.Gly1127Arg) c.*3093G>A (n.*3093G>A) c.3196G>A (p.Gly1066Arg) c.*1754G>A (n.*1754G>A) c.3373G>A (p.Gly1125Arg) c.*3203G>A (n.*3203G>A) c.2953G>A (p.Gly985Arg) c.127G>A (p.Gly43Arg) c.970G>A (p.Gly324Arg) c.1029G>A c.2161G>A (p.Gly721Arg) c.3289G>A (p.Gly1097Arg) c.204G>A c.3469G>A (p.Gly1157Arg) c.3136G>A (p.Gly1046Arg) | COSMIC |
7 | g.117614624G>C | CA368993309 | CFTR | c.3379G>C (p.Gly1127Arg) c.*3093G>C (n.*3093G>C) c.3196G>C (p.Gly1066Arg) c.*1754G>C (n.*1754G>C) c.3373G>C (p.Gly1125Arg) c.*3203G>C (n.*3203G>C) c.2953G>C (p.Gly985Arg) c.127G>C (p.Gly43Arg) c.970G>C (p.Gly324Arg) c.1029G>C c.2161G>C (p.Gly721Arg) c.3289G>C (p.Gly1097Arg) c.204G>C c.3469G>C (p.Gly1157Arg) c.3136G>C (p.Gly1046Arg) | |
7 | g.117614624G>T | CA368993311 | CFTR | c.3379G>T (p.Gly1127Ter) c.*3093G>T (n.*3093G>T) c.3196G>T (p.Gly1066Ter) c.*1754G>T (n.*1754G>T) c.3373G>T (p.Gly1125Ter) c.*3203G>T (n.*3203G>T) c.2953G>T (p.Gly985Ter) c.127G>T (p.Gly43Ter) c.970G>T (p.Gly324Ter) c.1029G>T c.2161G>T (p.Gly721Ter) c.3289G>T (p.Gly1097Ter) c.204G>T c.3469G>T (p.Gly1157Ter) c.3136G>T (p.Gly1046Ter) | |
7 | g.117614625G>A | CA368993314 | CFTR | c.3380G>A (p.Gly1127Glu) c.*3094G>A (n.*3094G>A) c.3197G>A (p.Gly1066Glu) c.*1755G>A (n.*1755G>A) c.3374G>A (p.Gly1125Glu) c.*3204G>A (n.*3204G>A) c.2954G>A (p.Gly985Glu) c.128G>A (p.Gly43Glu) c.971G>A (p.Gly324Glu) c.1030G>A c.2162G>A (p.Gly721Glu) c.3290G>A (p.Gly1097Glu) c.205G>A c.3470G>A (p.Gly1157Glu) c.3137G>A (p.Gly1046Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117614625G>C | CA368993316 | CFTR | c.3380G>C (p.Gly1127Ala) c.*3094G>C (n.*3094G>C) c.3197G>C (p.Gly1066Ala) c.*1755G>C (n.*1755G>C) c.3374G>C (p.Gly1125Ala) c.*3204G>C (n.*3204G>C) c.2954G>C (p.Gly985Ala) c.128G>C (p.Gly43Ala) c.971G>C (p.Gly324Ala) c.1030G>C c.2162G>C (p.Gly721Ala) c.3290G>C (p.Gly1097Ala) c.205G>C c.3470G>C (p.Gly1157Ala) c.3137G>C (p.Gly1046Ala) | COSMIC |
7 | g.117614625G= | CA1737391957 | CFTR | c.3380G= (p.Gly1127=) c.*3094G= (n.*3094G=) c.3197G= (p.Gly1066=) c.*1755G= (n.*1755G=) c.3374G= (p.Gly1125=) c.*3204G= (n.*3204G=) c.2954G= (p.Gly985=) c.128G= (p.Gly43=) c.971G= (p.Gly324=) c.1030G= c.2162G= (p.Gly721=) c.3290G= (p.Gly1097=) c.205G= c.3470G= (p.Gly1157=) c.3137G= (p.Gly1046=) | |
7 | g.117614625G>T | CA368993318 | CFTR | c.3380G>T (p.Gly1127Val) c.*3094G>T (n.*3094G>T) c.3197G>T (p.Gly1066Val) c.*1755G>T (n.*1755G>T) c.3374G>T (p.Gly1125Val) c.*3204G>T (n.*3204G>T) c.2954G>T (p.Gly985Val) c.128G>T (p.Gly43Val) c.971G>T (p.Gly324Val) c.1030G>T c.2162G>T (p.Gly721Val) c.3290G>T (p.Gly1097Val) c.205G>T c.3470G>T (p.Gly1157Val) c.3137G>T (p.Gly1046Val) | |
7 | g.117614626A>C | CA457230153 | CFTR | c.3381A>C (p.Gly1127=) c.*3095A>C (n.*3095A>C) c.3198A>C (p.Gly1066=) c.*1756A>C (n.*1756A>C) c.3375A>C (p.Gly1125=) c.*3205A>C (n.*3205A>C) c.2955A>C (p.Gly985=) c.129A>C (p.Gly43=) c.972A>C (p.Gly324=) c.1031A>C c.2163A>C (p.Gly721=) c.3291A>C (p.Gly1097=) c.206A>C c.3471A>C (p.Gly1157=) c.3138A>C (p.Gly1046=) | |
7 | g.117614626A>G | CA457230155 | CFTR | c.3381A>G (p.Gly1127=) c.*3095A>G (n.*3095A>G) c.3198A>G (p.Gly1066=) c.*1756A>G (n.*1756A>G) c.3375A>G (p.Gly1125=) c.*3205A>G (n.*3205A>G) c.2955A>G (p.Gly985=) c.129A>G (p.Gly43=) c.972A>G (p.Gly324=) c.1031A>G c.2163A>G (p.Gly721=) c.3291A>G (p.Gly1097=) c.206A>G c.3471A>G (p.Gly1157=) c.3138A>G (p.Gly1046=) | |
7 | g.117614626A>T | CA457230154 | CFTR | c.3381A>T (p.Gly1127=) c.*3095A>T (n.*3095A>T) c.3198A>T (p.Gly1066=) c.*1756A>T (n.*1756A>T) c.3375A>T (p.Gly1125=) c.*3205A>T (n.*3205A>T) c.2955A>T (p.Gly985=) c.129A>T (p.Gly43=) c.972A>T (p.Gly324=) c.1031A>T c.2163A>T (p.Gly721=) c.3291A>T (p.Gly1097=) c.206A>T c.3471A>T (p.Gly1157=) c.3138A>T (p.Gly1046=) | |
7 | g.117614627A= | CA1737391966 | CFTR | c.3382A= (p.Arg1128=) c.*3096A= (n.*3096A=) c.3199A= (p.Arg1067=) c.*1757A= (n.*1757A=) c.3376A= (p.Arg1126=) c.*3206A= (n.*3206A=) c.2956A= (p.Arg986=) c.130A= (p.Arg44=) c.973A= (p.Arg325=) c.1032A= c.2164A= (p.Arg722=) c.3292A= (p.Arg1098=) c.207A= c.3472A= (p.Arg1158=) c.3139A= (p.Arg1047=) | |
7 | g.117614627A>C | CA457230156 | CFTR | c.3382A>C (p.Arg1128=) c.*3096A>C (n.*3096A>C) c.3199A>C (p.Arg1067=) c.*1757A>C (n.*1757A>C) c.3376A>C (p.Arg1126=) c.*3206A>C (n.*3206A>C) c.2956A>C (p.Arg986=) c.130A>C (p.Arg44=) c.973A>C (p.Arg325=) c.1032A>C c.2164A>C (p.Arg722=) c.3292A>C (p.Arg1098=) c.207A>C c.3472A>C (p.Arg1158=) c.3139A>C (p.Arg1047=) | gnomAD v4 |
7 | g.117614627A>G | CA10606586 | CFTR | c.3382A>G (p.Arg1128Gly) c.*3096A>G (n.*3096A>G) c.3199A>G (p.Arg1067Gly) c.*1757A>G (n.*1757A>G) c.3376A>G (p.Arg1126Gly) c.*3206A>G (n.*3206A>G) c.2956A>G (p.Arg986Gly) c.130A>G (p.Arg44Gly) c.973A>G (p.Arg325Gly) c.1032A>G c.2164A>G (p.Arg722Gly) c.3292A>G (p.Arg1098Gly) c.207A>G c.3472A>G (p.Arg1158Gly) c.3139A>G (p.Arg1047Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614627A>T | CA327162 | CFTR | c.3382A>T (p.Arg1128Ter) c.*3096A>T (n.*3096A>T) c.3199A>T (p.Arg1067Ter) c.*1757A>T (n.*1757A>T) c.3376A>T (p.Arg1126Ter) c.*3206A>T (n.*3206A>T) c.2956A>T (p.Arg986Ter) c.130A>T (p.Arg44Ter) c.973A>T (p.Arg325Ter) c.1032A>T c.2164A>T (p.Arg722Ter) c.3292A>T (p.Arg1098Ter) c.207A>T c.3472A>T (p.Arg1158Ter) c.3139A>T (p.Arg1047Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117614628G>A | CA368993326 | CFTR | c.3383G>A (p.Arg1128Lys) c.*3097G>A (n.*3097G>A) c.3200G>A (p.Arg1067Lys) c.*1758G>A (n.*1758G>A) c.3377G>A (p.Arg1126Lys) c.*3207G>A (n.*3207G>A) c.2957G>A (p.Arg986Lys) c.131G>A (p.Arg44Lys) c.974G>A (p.Arg325Lys) c.1033G>A c.2165G>A (p.Arg722Lys) c.3293G>A (p.Arg1098Lys) c.208G>A c.3473G>A (p.Arg1158Lys) c.3140G>A (p.Arg1047Lys) | dbSNP |
7 | g.117614628G>C | CA368993329 | CFTR | c.3383G>C (p.Arg1128Thr) c.*3097G>C (n.*3097G>C) c.3200G>C (p.Arg1067Thr) c.*1758G>C (n.*1758G>C) c.3377G>C (p.Arg1126Thr) c.*3207G>C (n.*3207G>C) c.2957G>C (p.Arg986Thr) c.131G>C (p.Arg44Thr) c.974G>C (p.Arg325Thr) c.1033G>C c.2165G>C (p.Arg722Thr) c.3293G>C (p.Arg1098Thr) c.208G>C c.3473G>C (p.Arg1158Thr) c.3140G>C (p.Arg1047Thr) | gnomAD v4 |
7 | g.117614628G= | CA1737391972 | CFTR | c.3383G= (p.Arg1128=) c.*3097G= (n.*3097G=) c.3200G= (p.Arg1067=) c.*1758G= (n.*1758G=) c.3377G= (p.Arg1126=) c.*3207G= (n.*3207G=) c.2957G= (p.Arg986=) c.131G= (p.Arg44=) c.974G= (p.Arg325=) c.1033G= c.2165G= (p.Arg722=) c.3293G= (p.Arg1098=) c.208G= c.3473G= (p.Arg1158=) c.3140G= (p.Arg1047=) | |
7 | g.117614628G>T | CA368993324 | CFTR | c.3383G>T (p.Arg1128Ile) c.*3097G>T (n.*3097G>T) c.3200G>T (p.Arg1067Ile) c.*1758G>T (n.*1758G>T) c.3377G>T (p.Arg1126Ile) c.*3207G>T (n.*3207G>T) c.2957G>T (p.Arg986Ile) c.131G>T (p.Arg44Ile) c.974G>T (p.Arg325Ile) c.1033G>T c.2165G>T (p.Arg722Ile) c.3293G>T (p.Arg1098Ile) c.208G>T c.3473G>T (p.Arg1158Ile) c.3140G>T (p.Arg1047Ile) | |
7 | g.117614629A>C | CA368993332 | CFTR | c.3384A>C (p.Arg1128Ser) c.*3098A>C (n.*3098A>C) c.3201A>C (p.Arg1067Ser) c.*1759A>C (n.*1759A>C) c.3378A>C (p.Arg1126Ser) c.*3208A>C (n.*3208A>C) c.2958A>C (p.Arg986Ser) c.132A>C (p.Arg44Ser) c.975A>C (p.Arg325Ser) c.1034A>C c.2166A>C (p.Arg722Ser) c.3294A>C (p.Arg1098Ser) c.209A>C c.3474A>C (p.Arg1158Ser) c.3141A>C (p.Arg1047Ser) | |
7 | g.117614629A>G | CA457230158 | CFTR | c.3384A>G (p.Arg1128=) c.*3098A>G (n.*3098A>G) c.3201A>G (p.Arg1067=) c.*1759A>G (n.*1759A>G) c.3378A>G (p.Arg1126=) c.*3208A>G (n.*3208A>G) c.2958A>G (p.Arg986=) c.132A>G (p.Arg44=) c.975A>G (p.Arg325=) c.1034A>G c.2166A>G (p.Arg722=) c.3294A>G (p.Arg1098=) c.209A>G c.3474A>G (p.Arg1158=) c.3141A>G (p.Arg1047=) | |
7 | g.117614629A>T | CA368993333 | CFTR | c.3384A>T (p.Arg1128Ser) c.*3098A>T (n.*3098A>T) c.3201A>T (p.Arg1067Ser) c.*1759A>T (n.*1759A>T) c.3378A>T (p.Arg1126Ser) c.*3208A>T (n.*3208A>T) c.2958A>T (p.Arg986Ser) c.132A>T (p.Arg44Ser) c.975A>T (p.Arg325Ser) c.1034A>T c.2166A>T (p.Arg722Ser) c.3294A>T (p.Arg1098Ser) c.209A>T c.3474A>T (p.Arg1158Ser) c.3141A>T (p.Arg1047Ser) | |
7 | g.117614630G>A | CA368993336 | CFTR | c.3385G>A (p.Val1129Ile) c.*3099G>A (n.*3099G>A) c.3202G>A (p.Val1068Ile) c.*1760G>A (n.*1760G>A) c.3379G>A (p.Val1127Ile) c.*3209G>A (n.*3209G>A) c.2959G>A (p.Val987Ile) c.133G>A (p.Val45Ile) c.976G>A (p.Val326Ile) c.1035G>A c.2167G>A (p.Val723Ile) c.3295G>A (p.Val1099Ile) c.210G>A c.3475G>A (p.Val1159Ile) c.3142G>A (p.Val1048Ile) | ClinVar gnomAD v4 |
7 | g.117614630G>C | CA368993338 | CFTR | c.3385G>C (p.Val1129Leu) c.*3099G>C (n.*3099G>C) c.3202G>C (p.Val1068Leu) c.*1760G>C (n.*1760G>C) c.3379G>C (p.Val1127Leu) c.*3209G>C (n.*3209G>C) c.2959G>C (p.Val987Leu) c.133G>C (p.Val45Leu) c.976G>C (p.Val326Leu) c.1035G>C c.2167G>C (p.Val723Leu) c.3295G>C (p.Val1099Leu) c.210G>C c.3475G>C (p.Val1159Leu) c.3142G>C (p.Val1048Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117614630G>T | CA368993340 | CFTR | c.3385G>T (p.Val1129Phe) c.*3099G>T (n.*3099G>T) c.3202G>T (p.Val1068Phe) c.*1760G>T (n.*1760G>T) c.3379G>T (p.Val1127Phe) c.*3209G>T (n.*3209G>T) c.2959G>T (p.Val987Phe) c.133G>T (p.Val45Phe) c.976G>T (p.Val326Phe) c.1035G>T c.2167G>T (p.Val723Phe) c.3295G>T (p.Val1099Phe) c.210G>T c.3475G>T (p.Val1159Phe) c.3142G>T (p.Val1048Phe) | |
7 | g.117614631T>A | CA368993346 | CFTR | c.3386T>A (p.Val1129Asp) c.*3100T>A (n.*3100T>A) c.3203T>A (p.Val1068Asp) c.*1761T>A (n.*1761T>A) c.3380T>A (p.Val1127Asp) c.*3210T>A (n.*3210T>A) c.2960T>A (p.Val987Asp) c.134T>A (p.Val45Asp) c.977T>A (p.Val326Asp) c.1036T>A c.2168T>A (p.Val723Asp) c.3296T>A (p.Val1099Asp) c.211T>A c.3476T>A (p.Val1159Asp) c.3143T>A (p.Val1048Asp) | |
7 | g.117614631T>C | CA368993342 | CFTR | c.3386T>C (p.Val1129Ala) c.*3100T>C (n.*3100T>C) c.3203T>C (p.Val1068Ala) c.*1761T>C (n.*1761T>C) c.3380T>C (p.Val1127Ala) c.*3210T>C (n.*3210T>C) c.2960T>C (p.Val987Ala) c.134T>C (p.Val45Ala) c.977T>C (p.Val326Ala) c.1036T>C c.2168T>C (p.Val723Ala) c.3296T>C (p.Val1099Ala) c.211T>C c.3476T>C (p.Val1159Ala) c.3143T>C (p.Val1048Ala) | dbSNP gnomAD v4 |
7 | g.117614631T>G | CA368993344 | CFTR | c.3386T>G (p.Val1129Gly) c.*3100T>G (n.*3100T>G) c.3203T>G (p.Val1068Gly) c.*1761T>G (n.*1761T>G) c.3380T>G (p.Val1127Gly) c.*3210T>G (n.*3210T>G) c.2960T>G (p.Val987Gly) c.134T>G (p.Val45Gly) c.977T>G (p.Val326Gly) c.1036T>G c.2168T>G (p.Val723Gly) c.3296T>G (p.Val1099Gly) c.211T>G c.3476T>G (p.Val1159Gly) c.3143T>G (p.Val1048Gly) | gnomAD v4 |
7 | g.117614631T= | CA1737391976 | CFTR | c.3386T= (p.Val1129=) c.*3100T= (n.*3100T=) c.3203T= (p.Val1068=) c.*1761T= (n.*1761T=) c.3380T= (p.Val1127=) c.*3210T= (n.*3210T=) c.2960T= (p.Val987=) c.134T= (p.Val45=) c.977T= (p.Val326=) c.1036T= c.2168T= (p.Val723=) c.3296T= (p.Val1099=) c.211T= c.3476T= (p.Val1159=) c.3143T= (p.Val1048=) | |
7 | g.117614632del | CA2695208372 | CFTR | c.3387del (p.Gly1130ValfsTer4) c.*3101del (n.*3101del) c.3204del (p.Gly1069ValfsTer4) c.*1762del (n.*1762del) c.3381del (p.Gly1128ValfsTer4) c.*3211del (n.*3211del) c.2961del (p.Gly988ValfsTer4) c.135del (p.Gly46ValfsTer4) c.978del (p.Gly327ValfsTer4) c.1037del c.2169del (p.Gly724ValfsTer4) c.3297del (p.Gly1100ValfsTer4) c.212del c.3477del (p.Gly1160ValfsTer4) c.3144del (p.Gly1049ValfsTer4) | |
7 | g.117614632T>A | CA457230160 | CFTR | c.3387T>A (p.Val1129=) c.*3101T>A (n.*3101T>A) c.3204T>A (p.Val1068=) c.*1762T>A (n.*1762T>A) c.3381T>A (p.Val1127=) c.*3211T>A (n.*3211T>A) c.2961T>A (p.Val987=) c.135T>A (p.Val45=) c.978T>A (p.Val326=) c.1037T>A c.2169T>A (p.Val723=) c.3297T>A (p.Val1099=) c.212T>A c.3477T>A (p.Val1159=) c.3144T>A (p.Val1048=) | |
7 | g.117614632T>C | CA457230161 | CFTR | c.3387T>C (p.Val1129=) c.*3101T>C (n.*3101T>C) c.3204T>C (p.Val1068=) c.*1762T>C (n.*1762T>C) c.3381T>C (p.Val1127=) c.*3211T>C (n.*3211T>C) c.2961T>C (p.Val987=) c.135T>C (p.Val45=) c.978T>C (p.Val326=) c.1037T>C c.2169T>C (p.Val723=) c.3297T>C (p.Val1099=) c.212T>C c.3477T>C (p.Val1159=) c.3144T>C (p.Val1048=) | |
7 | g.117614632T>G | CA457230162 | CFTR | c.3387T>G (p.Val1129=) c.*3101T>G (n.*3101T>G) c.3204T>G (p.Val1068=) c.*1762T>G (n.*1762T>G) c.3381T>G (p.Val1127=) c.*3211T>G (n.*3211T>G) c.2961T>G (p.Val987=) c.135T>G (p.Val45=) c.978T>G (p.Val326=) c.1037T>G c.2169T>G (p.Val723=) c.3297T>G (p.Val1099=) c.212T>G c.3477T>G (p.Val1159=) c.3144T>G (p.Val1048=) | |
7 | g.117614633G>A | CA164968795 | CFTR | c.3388G>A (p.Gly1130Ser) c.*3102G>A (n.*3102G>A) c.3205G>A (p.Gly1069Ser) c.*1763G>A (n.*1763G>A) c.3382G>A (p.Gly1128Ser) c.*3212G>A (n.*3212G>A) c.2962G>A (p.Gly988Ser) c.136G>A (p.Gly46Ser) c.979G>A (p.Gly327Ser) c.1038G>A c.2170G>A (p.Gly724Ser) c.3298G>A (p.Gly1100Ser) c.213G>A c.3478G>A (p.Gly1160Ser) c.3145G>A (p.Gly1049Ser) | ClinVar dbSNP gnomAD v2 |
7 | g.117614633G>C | CA368993350 | CFTR | c.3388G>C (p.Gly1130Arg) c.*3102G>C (n.*3102G>C) c.3205G>C (p.Gly1069Arg) c.*1763G>C (n.*1763G>C) c.3382G>C (p.Gly1128Arg) c.*3212G>C (n.*3212G>C) c.2962G>C (p.Gly988Arg) c.136G>C (p.Gly46Arg) c.979G>C (p.Gly327Arg) c.1038G>C c.2170G>C (p.Gly724Arg) c.3298G>C (p.Gly1100Arg) c.213G>C c.3478G>C (p.Gly1160Arg) c.3145G>C (p.Gly1049Arg) | ClinVar dbSNP |
7 | g.117614633G= | CA1737391987 | CFTR | c.3388G= (p.Gly1130=) c.*3102G= (n.*3102G=) c.3205G= (p.Gly1069=) c.*1763G= (n.*1763G=) c.3382G= (p.Gly1128=) c.*3212G= (n.*3212G=) c.2962G= (p.Gly988=) c.136G= (p.Gly46=) c.979G= (p.Gly327=) c.1038G= c.2170G= (p.Gly724=) c.3298G= (p.Gly1100=) c.213G= c.3478G= (p.Gly1160=) c.3145G= (p.Gly1049=) | |
7 | g.117614633G>T | CA368993352 | CFTR | c.3388G>T (p.Gly1130Cys) c.*3102G>T (n.*3102G>T) c.3205G>T (p.Gly1069Cys) c.*1763G>T (n.*1763G>T) c.3382G>T (p.Gly1128Cys) c.*3212G>T (n.*3212G>T) c.2962G>T (p.Gly988Cys) c.136G>T (p.Gly46Cys) c.979G>T (p.Gly327Cys) c.1038G>T c.2170G>T (p.Gly724Cys) c.3298G>T (p.Gly1100Cys) c.213G>T c.3478G>T (p.Gly1160Cys) c.3145G>T (p.Gly1049Cys) | |
7 | g.117614634G>A | CA368993354 | CFTR | c.3389G>A (p.Gly1130Asp) c.*3103G>A (n.*3103G>A) c.3206G>A (p.Gly1069Asp) c.*1764G>A (n.*1764G>A) c.3383G>A (p.Gly1128Asp) c.*3213G>A (n.*3213G>A) c.2963G>A (p.Gly988Asp) c.137G>A (p.Gly46Asp) c.980G>A (p.Gly327Asp) c.1039G>A c.2171G>A (p.Gly724Asp) c.3299G>A (p.Gly1100Asp) c.214G>A c.3479G>A (p.Gly1160Asp) c.3146G>A (p.Gly1049Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117614634G>C | CA327164 | CFTR | c.3389G>C (p.Gly1130Ala) c.*3103G>C (n.*3103G>C) c.3206G>C (p.Gly1069Ala) c.*1764G>C (n.*1764G>C) c.3383G>C (p.Gly1128Ala) c.*3213G>C (n.*3213G>C) c.2963G>C (p.Gly988Ala) c.137G>C (p.Gly46Ala) c.980G>C (p.Gly327Ala) c.1039G>C c.2171G>C (p.Gly724Ala) c.3299G>C (p.Gly1100Ala) c.214G>C c.3479G>C (p.Gly1160Ala) c.3146G>C (p.Gly1049Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614634G= | CA1737391991 | CFTR | c.3389G= (p.Gly1130=) c.*3103G= (n.*3103G=) c.3206G= (p.Gly1069=) c.*1764G= (n.*1764G=) c.3383G= (p.Gly1128=) c.*3213G= (n.*3213G=) c.2963G= (p.Gly988=) c.137G= (p.Gly46=) c.980G= (p.Gly327=) c.1039G= c.2171G= (p.Gly724=) c.3299G= (p.Gly1100=) c.214G= c.3479G= (p.Gly1160=) c.3146G= (p.Gly1049=) | |
7 | g.117614634G>T | CA368993358 | CFTR | c.3389G>T (p.Gly1130Val) c.*3103G>T (n.*3103G>T) c.3206G>T (p.Gly1069Val) c.*1764G>T (n.*1764G>T) c.3383G>T (p.Gly1128Val) c.*3213G>T (n.*3213G>T) c.2963G>T (p.Gly988Val) c.137G>T (p.Gly46Val) c.980G>T (p.Gly327Val) c.1039G>T c.2171G>T (p.Gly724Val) c.3299G>T (p.Gly1100Val) c.214G>T c.3479G>T (p.Gly1160Val) c.3146G>T (p.Gly1049Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614634_117614647del | CA2580076397 | CFTR | c.3389_3402del (p.Gly1130ValfsTer21) c.*3103_*3116del (n.*3103_*3116del) c.3206_3219del (p.Gly1069ValfsTer21) c.*1764_*1777del (n.*1764_*1777del) c.3383_3396del (p.Gly1128ValfsTer21) c.*3213_*3226del (n.*3213_*3226del) c.2963_2976del (p.Gly988ValfsTer21) c.137_150del (p.Gly46ValfsTer21) c.980_993del (p.Gly327ValfsTer21) c.1039_1052del c.2171_2184del (p.Gly724ValfsTer21) c.3299_3312del (p.Gly1100ValfsTer21) c.214_227del c.3479_3492del (p.Gly1160ValfsTer21) c.3146_3159del (p.Gly1049ValfsTer21) | ClinVar |
7 | g.117614635T>A | CA457230163 | CFTR | c.3390T>A (p.Gly1130=) c.*3104T>A (n.*3104T>A) c.3207T>A (p.Gly1069=) c.*1765T>A (n.*1765T>A) c.3384T>A (p.Gly1128=) c.*3214T>A (n.*3214T>A) c.2964T>A (p.Gly988=) c.138T>A (p.Gly46=) c.981T>A (p.Gly327=) c.1040T>A c.2172T>A (p.Gly724=) c.3300T>A (p.Gly1100=) c.215T>A c.3480T>A (p.Gly1160=) c.3147T>A (p.Gly1049=) | |
7 | g.117614635T>C | CA457230164 | CFTR | c.3390T>C (p.Gly1130=) c.*3104T>C (n.*3104T>C) c.3207T>C (p.Gly1069=) c.*1765T>C (n.*1765T>C) c.3384T>C (p.Gly1128=) c.*3214T>C (n.*3214T>C) c.2964T>C (p.Gly988=) c.138T>C (p.Gly46=) c.981T>C (p.Gly327=) c.1040T>C c.2172T>C (p.Gly724=) c.3300T>C (p.Gly1100=) c.215T>C c.3480T>C (p.Gly1160=) c.3147T>C (p.Gly1049=) | |
7 | g.117614635T>G | CA457230165 | CFTR | c.3390T>G (p.Gly1130=) c.*3104T>G (n.*3104T>G) c.3207T>G (p.Gly1069=) c.*1765T>G (n.*1765T>G) c.3384T>G (p.Gly1128=) c.*3214T>G (n.*3214T>G) c.2964T>G (p.Gly988=) c.138T>G (p.Gly46=) c.981T>G (p.Gly327=) c.1040T>G c.2172T>G (p.Gly724=) c.3300T>G (p.Gly1100=) c.215T>G c.3480T>G (p.Gly1160=) c.3147T>G (p.Gly1049=) | |
7 | g.117614636A= | CA1737392000 | CFTR | c.3391A= (p.Ile1131=) c.*3105A= (n.*3105A=) c.3208A= (p.Ile1070=) c.*1766A= (n.*1766A=) c.3385A= (p.Ile1129=) c.*3215A= (n.*3215A=) c.2965A= (p.Ile989=) c.139A= (p.Ile47=) c.982A= (p.Ile328=) c.1041A= c.2173A= (p.Ile725=) c.3301A= (p.Ile1101=) c.216A= c.3481A= (p.Ile1161=) c.3148A= (p.Ile1050=) | |
7 | g.117614636A>C | CA368993363 | CFTR | c.3391A>C (p.Ile1131Leu) c.*3105A>C (n.*3105A>C) c.3208A>C (p.Ile1070Leu) c.*1766A>C (n.*1766A>C) c.3385A>C (p.Ile1129Leu) c.*3215A>C (n.*3215A>C) c.2965A>C (p.Ile989Leu) c.139A>C (p.Ile47Leu) c.982A>C (p.Ile328Leu) c.1041A>C c.2173A>C (p.Ile725Leu) c.3301A>C (p.Ile1101Leu) c.216A>C c.3481A>C (p.Ile1161Leu) c.3148A>C (p.Ile1050Leu) | |
7 | g.117614636A>G | CA4451453 | CFTR | c.3391A>G (p.Ile1131Val) c.*3105A>G (n.*3105A>G) c.3208A>G (p.Ile1070Val) c.*1766A>G (n.*1766A>G) c.3385A>G (p.Ile1129Val) c.*3215A>G (n.*3215A>G) c.2965A>G (p.Ile989Val) c.139A>G (p.Ile47Val) c.982A>G (p.Ile328Val) c.1041A>G c.2173A>G (p.Ile725Val) c.3301A>G (p.Ile1101Val) c.216A>G c.3481A>G (p.Ile1161Val) c.3148A>G (p.Ile1050Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614636A>T | CA368993361 | CFTR | c.3391A>T (p.Ile1131Phe) c.*3105A>T (n.*3105A>T) c.3208A>T (p.Ile1070Phe) c.*1766A>T (n.*1766A>T) c.3385A>T (p.Ile1129Phe) c.*3215A>T (n.*3215A>T) c.2965A>T (p.Ile989Phe) c.139A>T (p.Ile47Phe) c.982A>T (p.Ile328Phe) c.1041A>T c.2173A>T (p.Ile725Phe) c.3301A>T (p.Ile1101Phe) c.216A>T c.3481A>T (p.Ile1161Phe) c.3148A>T (p.Ile1050Phe) | |
7 | g.117614637T>A | CA368993368 | CFTR | c.3392T>A (p.Ile1131Asn) c.*3106T>A (n.*3106T>A) c.3209T>A (p.Ile1070Asn) c.*1767T>A (n.*1767T>A) c.3386T>A (p.Ile1129Asn) c.*3216T>A (n.*3216T>A) c.2966T>A (p.Ile989Asn) c.140T>A (p.Ile47Asn) c.983T>A (p.Ile328Asn) c.1042T>A c.2174T>A (p.Ile725Asn) c.3302T>A (p.Ile1101Asn) c.217T>A c.3482T>A (p.Ile1161Asn) c.3149T>A (p.Ile1050Asn) | |
7 | g.117614637T>C | CA368993372 | CFTR | c.3392T>C (p.Ile1131Thr) c.*3106T>C (n.*3106T>C) c.3209T>C (p.Ile1070Thr) c.*1767T>C (n.*1767T>C) c.3386T>C (p.Ile1129Thr) c.*3216T>C (n.*3216T>C) c.2966T>C (p.Ile989Thr) c.140T>C (p.Ile47Thr) c.983T>C (p.Ile328Thr) c.1042T>C c.2174T>C (p.Ile725Thr) c.3302T>C (p.Ile1101Thr) c.217T>C c.3482T>C (p.Ile1161Thr) c.3149T>C (p.Ile1050Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.117614637T>G | CA368993370 | CFTR | c.3392T>G (p.Ile1131Ser) c.*3106T>G (n.*3106T>G) c.3209T>G (p.Ile1070Ser) c.*1767T>G (n.*1767T>G) c.3386T>G (p.Ile1129Ser) c.*3216T>G (n.*3216T>G) c.2966T>G (p.Ile989Ser) c.140T>G (p.Ile47Ser) c.983T>G (p.Ile328Ser) c.1042T>G c.2174T>G (p.Ile725Ser) c.3302T>G (p.Ile1101Ser) c.217T>G c.3482T>G (p.Ile1161Ser) c.3149T>G (p.Ile1050Ser) | |
7 | g.117614637T= | CA1737392004 | CFTR | c.3392T= (p.Ile1131=) c.*3106T= (n.*3106T=) c.3209T= (p.Ile1070=) c.*1767T= (n.*1767T=) c.3386T= (p.Ile1129=) c.*3216T= (n.*3216T=) c.2966T= (p.Ile989=) c.140T= (p.Ile47=) c.983T= (p.Ile328=) c.1042T= c.2174T= (p.Ile725=) c.3302T= (p.Ile1101=) c.217T= c.3482T= (p.Ile1161=) c.3149T= (p.Ile1050=) | |
7 | g.117614637_117614641dup | CA2697557587 | CFTR | c.3392_3396dup (p.Thr1134SerfsTer2) c.*3106_*3110dup (n.*3106_*3110dup) c.3209_3213dup (p.Thr1073SerfsTer2) c.*1767_*1771dup (n.*1767_*1771dup) c.3386_3390dup (p.Thr1132SerfsTer2) c.*3216_*3220dup (n.*3216_*3220dup) c.2966_2970dup (p.Thr992SerfsTer2) c.140_144dup (p.Thr50SerfsTer2) c.983_987dup (p.Thr331SerfsTer2) c.1042_1046dup c.2174_2178dup (p.Thr728SerfsTer2) c.3302_3306dup (p.Thr1104SerfsTer2) c.217_221dup c.3482_3486dup (p.Thr1164SerfsTer2) c.3149_3153dup (p.Thr1053SerfsTer2) | ClinVar |
7 | g.117614638T>A | CA457230167 | CFTR | c.3393T>A (p.Ile1131=) c.*3107T>A (n.*3107T>A) c.3210T>A (p.Ile1070=) c.*1768T>A (n.*1768T>A) c.3387T>A (p.Ile1129=) c.*3217T>A (n.*3217T>A) c.2967T>A (p.Ile989=) c.141T>A (p.Ile47=) c.984T>A (p.Ile328=) c.1043T>A c.2175T>A (p.Ile725=) c.3303T>A (p.Ile1101=) c.218T>A c.3483T>A (p.Ile1161=) c.3150T>A (p.Ile1050=) | |
7 | g.117614638T>C | CA4451454 | CFTR | c.3393T>C (p.Ile1131=) c.*3107T>C (n.*3107T>C) c.3210T>C (p.Ile1070=) c.*1768T>C (n.*1768T>C) c.3387T>C (p.Ile1129=) c.*3217T>C (n.*3217T>C) c.2967T>C (p.Ile989=) c.141T>C (p.Ile47=) c.984T>C (p.Ile328=) c.1043T>C c.2175T>C (p.Ile725=) c.3303T>C (p.Ile1101=) c.218T>C c.3483T>C (p.Ile1161=) c.3150T>C (p.Ile1050=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614638T>G | CA368993374 | CFTR | c.3393T>G (p.Ile1131Met) c.*3107T>G (n.*3107T>G) c.3210T>G (p.Ile1070Met) c.*1768T>G (n.*1768T>G) c.3387T>G (p.Ile1129Met) c.*3217T>G (n.*3217T>G) c.2967T>G (p.Ile989Met) c.141T>G (p.Ile47Met) c.984T>G (p.Ile328Met) c.1043T>G c.2175T>G (p.Ile725Met) c.3303T>G (p.Ile1101Met) c.218T>G c.3483T>G (p.Ile1161Met) c.3150T>G (p.Ile1050Met) | |
7 | g.117614638T= | CA1737392006 | CFTR | c.3393T= (p.Ile1131=) c.*3107T= (n.*3107T=) c.3210T= (p.Ile1070=) c.*1768T= (n.*1768T=) c.3387T= (p.Ile1129=) c.*3217T= (n.*3217T=) c.2967T= (p.Ile989=) c.141T= (p.Ile47=) c.984T= (p.Ile328=) c.1043T= c.2175T= (p.Ile725=) c.3303T= (p.Ile1101=) c.218T= c.3483T= (p.Ile1161=) c.3150T= (p.Ile1050=) | |
7 | g.117614639A>C | CA368993377 | CFTR | c.3394A>C (p.Ile1132Leu) c.*3108A>C (n.*3108A>C) c.3211A>C (p.Ile1071Leu) c.*1769A>C (n.*1769A>C) c.3388A>C (p.Ile1130Leu) c.*3218A>C (n.*3218A>C) c.2968A>C (p.Ile990Leu) c.142A>C (p.Ile48Leu) c.985A>C (p.Ile329Leu) c.1044A>C c.2176A>C (p.Ile726Leu) c.3304A>C (p.Ile1102Leu) c.219A>C c.3484A>C (p.Ile1162Leu) c.3151A>C (p.Ile1051Leu) | |
7 | g.117614639A>G | CA368993379 | CFTR | c.3394A>G (p.Ile1132Val) c.*3108A>G (n.*3108A>G) c.3211A>G (p.Ile1071Val) c.*1769A>G (n.*1769A>G) c.3388A>G (p.Ile1130Val) c.*3218A>G (n.*3218A>G) c.2968A>G (p.Ile990Val) c.142A>G (p.Ile48Val) c.985A>G (p.Ile329Val) c.1044A>G c.2176A>G (p.Ile726Val) c.3304A>G (p.Ile1102Val) c.219A>G c.3484A>G (p.Ile1162Val) c.3151A>G (p.Ile1051Val) | |
7 | g.117614639A>T | CA368993381 | CFTR | c.3394A>T (p.Ile1132Phe) c.*3108A>T (n.*3108A>T) c.3211A>T (p.Ile1071Phe) c.*1769A>T (n.*1769A>T) c.3388A>T (p.Ile1130Phe) c.*3218A>T (n.*3218A>T) c.2968A>T (p.Ile990Phe) c.142A>T (p.Ile48Phe) c.985A>T (p.Ile329Phe) c.1044A>T c.2176A>T (p.Ile726Phe) c.3304A>T (p.Ile1102Phe) c.219A>T c.3484A>T (p.Ile1162Phe) c.3151A>T (p.Ile1051Phe) | |
7 | g.117614640T>A | CA368993384 | CFTR | c.3395T>A (p.Ile1132Asn) c.*3109T>A (n.*3109T>A) c.3212T>A (p.Ile1071Asn) c.*1770T>A (n.*1770T>A) c.3389T>A (p.Ile1130Asn) c.*3219T>A (n.*3219T>A) c.2969T>A (p.Ile990Asn) c.143T>A (p.Ile48Asn) c.986T>A (p.Ile329Asn) c.1045T>A c.2177T>A (p.Ile726Asn) c.3305T>A (p.Ile1102Asn) c.220T>A c.3485T>A (p.Ile1162Asn) c.3152T>A (p.Ile1051Asn) | |
7 | g.117614640T>C | CA368993385 | CFTR | c.3395T>C (p.Ile1132Thr) c.*3109T>C (n.*3109T>C) c.3212T>C (p.Ile1071Thr) c.*1770T>C (n.*1770T>C) c.3389T>C (p.Ile1130Thr) c.*3219T>C (n.*3219T>C) c.2969T>C (p.Ile990Thr) c.143T>C (p.Ile48Thr) c.986T>C (p.Ile329Thr) c.1045T>C c.2177T>C (p.Ile726Thr) c.3305T>C (p.Ile1102Thr) c.220T>C c.3485T>C (p.Ile1162Thr) c.3152T>C (p.Ile1051Thr) | |
7 | g.117614640T>G | CA368993387 | CFTR | c.3395T>G (p.Ile1132Ser) c.*3109T>G (n.*3109T>G) c.3212T>G (p.Ile1071Ser) c.*1770T>G (n.*1770T>G) c.3389T>G (p.Ile1130Ser) c.*3219T>G (n.*3219T>G) c.2969T>G (p.Ile990Ser) c.143T>G (p.Ile48Ser) c.986T>G (p.Ile329Ser) c.1045T>G c.2177T>G (p.Ile726Ser) c.3305T>G (p.Ile1102Ser) c.220T>G c.3485T>G (p.Ile1162Ser) c.3152T>G (p.Ile1051Ser) | |
7 | g.117614641C>A | CA457230169 | CFTR | c.3396C>A (p.Ile1132=) c.*3110C>A (n.*3110C>A) c.3213C>A (p.Ile1071=) c.*1771C>A (n.*1771C>A) c.3390C>A (p.Ile1130=) c.*3220C>A (n.*3220C>A) c.2970C>A (p.Ile990=) c.144C>A (p.Ile48=) c.987C>A (p.Ile329=) c.1046C>A c.2178C>A (p.Ile726=) c.3306C>A (p.Ile1102=) c.221C>A c.3486C>A (p.Ile1162=) c.3153C>A (p.Ile1051=) | |
7 | g.117614641C>G | CA368993390 | CFTR | c.3396C>G (p.Ile1132Met) c.*3110C>G (n.*3110C>G) c.3213C>G (p.Ile1071Met) c.*1771C>G (n.*1771C>G) c.3390C>G (p.Ile1130Met) c.*3220C>G (n.*3220C>G) c.2970C>G (p.Ile990Met) c.144C>G (p.Ile48Met) c.987C>G (p.Ile329Met) c.1046C>G c.2178C>G (p.Ile726Met) c.3306C>G (p.Ile1102Met) c.221C>G c.3486C>G (p.Ile1162Met) c.3153C>G (p.Ile1051Met) | COSMIC |
7 | g.117614641C>T | CA457230170 | CFTR | c.3396C>T (p.Ile1132=) c.*3110C>T (n.*3110C>T) c.3213C>T (p.Ile1071=) c.*1771C>T (n.*1771C>T) c.3390C>T (p.Ile1130=) c.*3220C>T (n.*3220C>T) c.2970C>T (p.Ile990=) c.144C>T (p.Ile48=) c.987C>T (p.Ile329=) c.1046C>T c.2178C>T (p.Ile726=) c.3306C>T (p.Ile1102=) c.221C>T c.3486C>T (p.Ile1162=) c.3153C>T (p.Ile1051=) | |
7 | g.117614642C>A | CA368993392 | CFTR | c.3397C>A (p.Leu1133Met) c.*3111C>A (n.*3111C>A) c.3214C>A (p.Leu1072Met) c.*1772C>A (n.*1772C>A) c.3391C>A (p.Leu1131Met) c.*3221C>A (n.*3221C>A) c.2971C>A (p.Leu991Met) c.145C>A (p.Leu49Met) c.988C>A (p.Leu330Met) c.1047C>A c.2179C>A (p.Leu727Met) c.3307C>A (p.Leu1103Met) c.222C>A c.3487C>A (p.Leu1163Met) c.3154C>A (p.Leu1052Met) | |
7 | g.117614642C>G | CA368993393 | CFTR | c.3397C>G (p.Leu1133Val) c.*3111C>G (n.*3111C>G) c.3214C>G (p.Leu1072Val) c.*1772C>G (n.*1772C>G) c.3391C>G (p.Leu1131Val) c.*3221C>G (n.*3221C>G) c.2971C>G (p.Leu991Val) c.145C>G (p.Leu49Val) c.988C>G (p.Leu330Val) c.1047C>G c.2179C>G (p.Leu727Val) c.3307C>G (p.Leu1103Val) c.222C>G c.3487C>G (p.Leu1163Val) c.3154C>G (p.Leu1052Val) | |
7 | g.117614642C>T | CA457230171 | CFTR | c.3397C>T (p.Leu1133=) c.*3111C>T (n.*3111C>T) c.3214C>T (p.Leu1072=) c.*1772C>T (n.*1772C>T) c.3391C>T (p.Leu1131=) c.*3221C>T (n.*3221C>T) c.2971C>T (p.Leu991=) c.145C>T (p.Leu49=) c.988C>T (p.Leu330=) c.1047C>T c.2179C>T (p.Leu727=) c.3307C>T (p.Leu1103=) c.222C>T c.3487C>T (p.Leu1163=) c.3154C>T (p.Leu1052=) | gnomAD v4 |
7 | g.117614643T>A | CA368993401 | CFTR | c.3398T>A (p.Leu1133Gln) c.*3112T>A (n.*3112T>A) c.3215T>A (p.Leu1072Gln) c.*1773T>A (n.*1773T>A) c.3392T>A (p.Leu1131Gln) c.*3222T>A (n.*3222T>A) c.2972T>A (p.Leu991Gln) c.146T>A (p.Leu49Gln) c.989T>A (p.Leu330Gln) c.1048T>A c.2180T>A (p.Leu727Gln) c.3308T>A (p.Leu1103Gln) c.223T>A c.3488T>A (p.Leu1163Gln) c.3155T>A (p.Leu1052Gln) | |
7 | g.117614643T>C | CA368993399 | CFTR | c.3398T>C (p.Leu1133Pro) c.*3112T>C (n.*3112T>C) c.3215T>C (p.Leu1072Pro) c.*1773T>C (n.*1773T>C) c.3392T>C (p.Leu1131Pro) c.*3222T>C (n.*3222T>C) c.2972T>C (p.Leu991Pro) c.146T>C (p.Leu49Pro) c.989T>C (p.Leu330Pro) c.1048T>C c.2180T>C (p.Leu727Pro) c.3308T>C (p.Leu1103Pro) c.223T>C c.3488T>C (p.Leu1163Pro) c.3155T>C (p.Leu1052Pro) | gnomAD v4 |
7 | g.117614643T>G | CA368993397 | CFTR | c.3398T>G (p.Leu1133Arg) c.*3112T>G (n.*3112T>G) c.3215T>G (p.Leu1072Arg) c.*1773T>G (n.*1773T>G) c.3392T>G (p.Leu1131Arg) c.*3222T>G (n.*3222T>G) c.2972T>G (p.Leu991Arg) c.146T>G (p.Leu49Arg) c.989T>G (p.Leu330Arg) c.1048T>G c.2180T>G (p.Leu727Arg) c.3308T>G (p.Leu1103Arg) c.223T>G c.3488T>G (p.Leu1163Arg) c.3155T>G (p.Leu1052Arg) | |
7 | g.117614643_117614644del | CA2580076398 | CFTR | c.3398_3399del (p.Leu1133HisfsTer22) c.*3112_*3113del (n.*3112_*3113del) c.3215_3216del (p.Leu1072HisfsTer22) c.*1773_*1774del (n.*1773_*1774del) c.3392_3393del (p.Leu1131HisfsTer22) c.*3222_*3223del (n.*3222_*3223del) c.2972_2973del (p.Leu991HisfsTer22) c.146_147del (p.Leu49HisfsTer22) c.989_990del (p.Leu330HisfsTer22) c.1048_1049del c.2180_2181del (p.Leu727HisfsTer22) c.3308_3309del (p.Leu1103HisfsTer22) c.223_224del c.3488_3489del (p.Leu1163HisfsTer22) c.3155_3156del (p.Leu1052HisfsTer22) | ClinVar |
7 | g.117614644G>A | CA457230172 | CFTR | c.3399G>A (p.Leu1133=) c.*3113G>A (n.*3113G>A) c.3216G>A (p.Leu1072=) c.*1774G>A (n.*1774G>A) c.3393G>A (p.Leu1131=) c.*3223G>A (n.*3223G>A) c.2973G>A (p.Leu991=) c.147G>A (p.Leu49=) c.990G>A (p.Leu330=) c.1049G>A c.2181G>A (p.Leu727=) c.3309G>A (p.Leu1103=) c.224G>A c.3489G>A (p.Leu1163=) c.3156G>A (p.Leu1052=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614644G>C | CA457230174 | CFTR | c.3399G>C (p.Leu1133=) c.*3113G>C (n.*3113G>C) c.3216G>C (p.Leu1072=) c.*1774G>C (n.*1774G>C) c.3393G>C (p.Leu1131=) c.*3223G>C (n.*3223G>C) c.2973G>C (p.Leu991=) c.147G>C (p.Leu49=) c.990G>C (p.Leu330=) c.1049G>C c.2181G>C (p.Leu727=) c.3309G>C (p.Leu1103=) c.224G>C c.3489G>C (p.Leu1163=) c.3156G>C (p.Leu1052=) | |
7 | g.117614644G= | CA1737392010 | CFTR | c.3399G= (p.Leu1133=) c.*3113G= (n.*3113G=) c.3216G= (p.Leu1072=) c.*1774G= (n.*1774G=) c.3393G= (p.Leu1131=) c.*3223G= (n.*3223G=) c.2973G= (p.Leu991=) c.147G= (p.Leu49=) c.990G= (p.Leu330=) c.1049G= c.2181G= (p.Leu727=) c.3309G= (p.Leu1103=) c.224G= c.3489G= (p.Leu1163=) c.3156G= (p.Leu1052=) | |
7 | g.117614644G>T | CA457230173 | CFTR | c.3399G>T (p.Leu1133=) c.*3113G>T (n.*3113G>T) c.3216G>T (p.Leu1072=) c.*1774G>T (n.*1774G>T) c.3393G>T (p.Leu1131=) c.*3223G>T (n.*3223G>T) c.2973G>T (p.Leu991=) c.147G>T (p.Leu49=) c.990G>T (p.Leu330=) c.1049G>T c.2181G>T (p.Leu727=) c.3309G>T (p.Leu1103=) c.224G>T c.3489G>T (p.Leu1163=) c.3156G>T (p.Leu1052=) | gnomAD v4 |
7 | g.117614644_117614646delinsGAC | CA1737392013 | CFTR | c.3399_3401delinsGAC (p.Leu1133=) c.*3113_*3115delinsGAC (n.*3113_*3115delinsGAC) c.3216_3218delinsGAC (p.Leu1072=) c.*1774_*1776delinsGAC (n.*1774_*1776delinsGAC) c.3393_3395delinsGAC (p.Leu1131=) c.*3223_*3225delinsGAC (n.*3223_*3225delinsGAC) c.2973_2975delinsGAC (p.Leu991=) c.147_149delinsGAC (p.Leu49=) c.990_992delinsGAC (p.Leu330=) c.1049_1051delinsGAC c.2181_2183delinsGAC (p.Leu727=) c.3309_3311delinsGAC (p.Leu1103=) c.224_226delinsGAC c.3489_3491delinsGAC (p.Leu1163=) c.3156_3158delinsGAC (p.Leu1052=) | |
7 | g.117614645A>C | CA368993404 | CFTR | c.3400A>C (p.Thr1134Pro) c.*3114A>C (n.*3114A>C) c.3217A>C (p.Thr1073Pro) c.*1775A>C (n.*1775A>C) c.3394A>C (p.Thr1132Pro) c.*3224A>C (n.*3224A>C) c.2974A>C (p.Thr992Pro) c.148A>C (p.Thr50Pro) c.991A>C (p.Thr331Pro) c.1050A>C c.2182A>C (p.Thr728Pro) c.3310A>C (p.Thr1104Pro) c.225A>C c.3490A>C (p.Thr1164Pro) c.3157A>C (p.Thr1053Pro) | |
7 | g.117614645A>G | CA368993406 | CFTR | c.3400A>G (p.Thr1134Ala) c.*3114A>G (n.*3114A>G) c.3217A>G (p.Thr1073Ala) c.*1775A>G (n.*1775A>G) c.3394A>G (p.Thr1132Ala) c.*3224A>G (n.*3224A>G) c.2974A>G (p.Thr992Ala) c.148A>G (p.Thr50Ala) c.991A>G (p.Thr331Ala) c.1050A>G c.2182A>G (p.Thr728Ala) c.3310A>G (p.Thr1104Ala) c.225A>G c.3490A>G (p.Thr1164Ala) c.3157A>G (p.Thr1053Ala) | |
7 | g.117614645A>T | CA368993408 | CFTR | c.3400A>T (p.Thr1134Ser) c.*3114A>T (n.*3114A>T) c.3217A>T (p.Thr1073Ser) c.*1775A>T (n.*1775A>T) c.3394A>T (p.Thr1132Ser) c.*3224A>T (n.*3224A>T) c.2974A>T (p.Thr992Ser) c.148A>T (p.Thr50Ser) c.991A>T (p.Thr331Ser) c.1050A>T c.2182A>T (p.Thr728Ser) c.3310A>T (p.Thr1104Ser) c.225A>T c.3490A>T (p.Thr1164Ser) c.3157A>T (p.Thr1053Ser) | |
7 | g.117614645_117614646delinsGTA | CA327168 | CFTR | c.3400_3401delinsGTA (p.Thr1134ValfsTer22) c.*3114_*3115delinsGTA (n.*3114_*3115delinsGTA) c.3217_3218delinsGTA (p.Thr1073ValfsTer22) c.*1775_*1776delinsGTA (n.*1775_*1776delinsGTA) c.3394_3395delinsGTA (p.Thr1132ValfsTer22) c.*3224_*3225delinsGTA (n.*3224_*3225delinsGTA) c.2974_2975delinsGTA (p.Thr992ValfsTer22) c.148_149delinsGTA (p.Thr50ValfsTer22) c.991_992delinsGTA (p.Thr331ValfsTer22) c.1050_1051delinsGTA c.2182_2183delinsGTA (p.Thr728ValfsTer22) c.3310_3311delinsGTA (p.Thr1104ValfsTer22) c.225_226delinsGTA c.3490_3491delinsGTA (p.Thr1164ValfsTer22) c.3157_3158delinsGTA (p.Thr1053ValfsTer22) | ClinVar dbSNP |
7 | g.117614646C>A | CA368993413 | CFTR | c.3401C>A (p.Thr1134Asn) c.*3115C>A (n.*3115C>A) c.3218C>A (p.Thr1073Asn) c.*1776C>A (n.*1776C>A) c.3395C>A (p.Thr1132Asn) c.*3225C>A (n.*3225C>A) c.2975C>A (p.Thr992Asn) c.149C>A (p.Thr50Asn) c.992C>A (p.Thr331Asn) c.1051C>A c.2183C>A (p.Thr728Asn) c.3311C>A (p.Thr1104Asn) c.226C>A c.3491C>A (p.Thr1164Asn) c.3158C>A (p.Thr1053Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614646C= | CA1737392024 | CFTR | c.3401C= (p.Thr1134=) c.*3115C= (n.*3115C=) c.3218C= (p.Thr1073=) c.*1776C= (n.*1776C=) c.3395C= (p.Thr1132=) c.*3225C= (n.*3225C=) c.2975C= (p.Thr992=) c.149C= (p.Thr50=) c.992C= (p.Thr331=) c.1051C= c.2183C= (p.Thr728=) c.3311C= (p.Thr1104=) c.226C= c.3491C= (p.Thr1164=) c.3158C= (p.Thr1053=) | |
7 | g.117614646C>G | CA368993415 | CFTR | c.3401C>G (p.Thr1134Ser) c.*3115C>G (n.*3115C>G) c.3218C>G (p.Thr1073Ser) c.*1776C>G (n.*1776C>G) c.3395C>G (p.Thr1132Ser) c.*3225C>G (n.*3225C>G) c.2975C>G (p.Thr992Ser) c.149C>G (p.Thr50Ser) c.992C>G (p.Thr331Ser) c.1051C>G c.2183C>G (p.Thr728Ser) c.3311C>G (p.Thr1104Ser) c.226C>G c.3491C>G (p.Thr1164Ser) c.3158C>G (p.Thr1053Ser) | |
7 | g.117614646C>T | CA368993417 | CFTR | c.3401C>T (p.Thr1134Ile) c.*3115C>T (n.*3115C>T) c.3218C>T (p.Thr1073Ile) c.*1776C>T (n.*1776C>T) c.3395C>T (p.Thr1132Ile) c.*3225C>T (n.*3225C>T) c.2975C>T (p.Thr992Ile) c.149C>T (p.Thr50Ile) c.992C>T (p.Thr331Ile) c.1051C>T c.2183C>T (p.Thr728Ile) c.3311C>T (p.Thr1104Ile) c.226C>T c.3491C>T (p.Thr1164Ile) c.3158C>T (p.Thr1053Ile) | |
7 | g.117614647T>A | CA457230175 | CFTR | c.3402T>A (p.Thr1134=) c.*3116T>A (n.*3116T>A) c.3219T>A (p.Thr1073=) c.*1777T>A (n.*1777T>A) c.3396T>A (p.Thr1132=) c.*3226T>A (n.*3226T>A) c.2976T>A (p.Thr992=) c.150T>A (p.Thr50=) c.993T>A (p.Thr331=) c.1052T>A c.2184T>A (p.Thr728=) c.3312T>A (p.Thr1104=) c.227T>A c.3492T>A (p.Thr1164=) c.3159T>A (p.Thr1053=) | |
7 | g.117614647T>C | CA457230176 | CFTR | c.3402T>C (p.Thr1134=) c.*3116T>C (n.*3116T>C) c.3219T>C (p.Thr1073=) c.*1777T>C (n.*1777T>C) c.3396T>C (p.Thr1132=) c.*3226T>C (n.*3226T>C) c.2976T>C (p.Thr992=) c.150T>C (p.Thr50=) c.993T>C (p.Thr331=) c.1052T>C c.2184T>C (p.Thr728=) c.3312T>C (p.Thr1104=) c.227T>C c.3492T>C (p.Thr1164=) c.3159T>C (p.Thr1053=) | |
7 | g.117614647T>G | CA457230177 | CFTR | c.3402T>G (p.Thr1134=) c.*3116T>G (n.*3116T>G) c.3219T>G (p.Thr1073=) c.*1777T>G (n.*1777T>G) c.3396T>G (p.Thr1132=) c.*3226T>G (n.*3226T>G) c.2976T>G (p.Thr992=) c.150T>G (p.Thr50=) c.993T>G (p.Thr331=) c.1052T>G c.2184T>G (p.Thr728=) c.3312T>G (p.Thr1104=) c.227T>G c.3492T>G (p.Thr1164=) c.3159T>G (p.Thr1053=) | |
7 | g.117614648T>A | CA368993420 | CFTR | c.3403T>A (p.Leu1135Ile) c.*3117T>A (n.*3117T>A) c.3220T>A (p.Leu1074Ile) c.*1778T>A (n.*1778T>A) c.3397T>A (p.Leu1133Ile) c.*3227T>A (n.*3227T>A) c.2977T>A (p.Leu993Ile) c.151T>A (p.Leu51Ile) c.994T>A (p.Leu332Ile) c.1053T>A c.2185T>A (p.Leu729Ile) c.3313T>A (p.Leu1105Ile) c.228T>A c.3493T>A (p.Leu1165Ile) c.3160T>A (p.Leu1054Ile) | |
7 | g.117614648T>C | CA457230178 | CFTR | c.3403T>C (p.Leu1135=) c.*3117T>C (n.*3117T>C) c.3220T>C (p.Leu1074=) c.*1778T>C (n.*1778T>C) c.3397T>C (p.Leu1133=) c.*3227T>C (n.*3227T>C) c.2977T>C (p.Leu993=) c.151T>C (p.Leu51=) c.994T>C (p.Leu332=) c.1053T>C c.2185T>C (p.Leu729=) c.3313T>C (p.Leu1105=) c.228T>C c.3493T>C (p.Leu1165=) c.3160T>C (p.Leu1054=) | ClinVar |
7 | g.117614648T>G | CA368993421 | CFTR | c.3403T>G (p.Leu1135Val) c.*3117T>G (n.*3117T>G) c.3220T>G (p.Leu1074Val) c.*1778T>G (n.*1778T>G) c.3397T>G (p.Leu1133Val) c.*3227T>G (n.*3227T>G) c.2977T>G (p.Leu993Val) c.151T>G (p.Leu51Val) c.994T>G (p.Leu332Val) c.1053T>G c.2185T>G (p.Leu729Val) c.3313T>G (p.Leu1105Val) c.228T>G c.3493T>G (p.Leu1165Val) c.3160T>G (p.Leu1054Val) | |
7 | g.117614649T>A | CA368993425 | CFTR | c.3404T>A (p.Leu1135Ter) c.*3118T>A (n.*3118T>A) c.3221T>A (p.Leu1074Ter) c.*1779T>A (n.*1779T>A) c.3398T>A (p.Leu1133Ter) c.*3228T>A (n.*3228T>A) c.2978T>A (p.Leu993Ter) c.152T>A (p.Leu51Ter) c.995T>A (p.Leu332Ter) c.1054T>A c.2186T>A (p.Leu729Ter) c.3314T>A (p.Leu1105Ter) c.229T>A c.3494T>A (p.Leu1165Ter) c.3161T>A (p.Leu1054Ter) | ClinVar dbSNP |
7 | g.117614649T>C | CA368993426 | CFTR | c.3404T>C (p.Leu1135Ser) c.*3118T>C (n.*3118T>C) c.3221T>C (p.Leu1074Ser) c.*1779T>C (n.*1779T>C) c.3398T>C (p.Leu1133Ser) c.*3228T>C (n.*3228T>C) c.2978T>C (p.Leu993Ser) c.152T>C (p.Leu51Ser) c.995T>C (p.Leu332Ser) c.1054T>C c.2186T>C (p.Leu729Ser) c.3314T>C (p.Leu1105Ser) c.229T>C c.3494T>C (p.Leu1165Ser) c.3161T>C (p.Leu1054Ser) | gnomAD v4 |
7 | g.117614649T>G | CA368993428 | CFTR | c.3404T>G (p.Leu1135Ter) c.*3118T>G (n.*3118T>G) c.3221T>G (p.Leu1074Ter) c.*1779T>G (n.*1779T>G) c.3398T>G (p.Leu1133Ter) c.*3228T>G (n.*3228T>G) c.2978T>G (p.Leu993Ter) c.152T>G (p.Leu51Ter) c.995T>G (p.Leu332Ter) c.1054T>G c.2186T>G (p.Leu729Ter) c.3314T>G (p.Leu1105Ter) c.229T>G c.3494T>G (p.Leu1165Ter) c.3161T>G (p.Leu1054Ter) | |
7 | g.117614649T= | CA1737392029 | CFTR | c.3404T= (p.Leu1135=) c.*3118T= (n.*3118T=) c.3221T= (p.Leu1074=) c.*1779T= (n.*1779T=) c.3398T= (p.Leu1133=) c.*3228T= (n.*3228T=) c.2978T= (p.Leu993=) c.152T= (p.Leu51=) c.995T= (p.Leu332=) c.1054T= c.2186T= (p.Leu729=) c.3314T= (p.Leu1105=) c.229T= c.3494T= (p.Leu1165=) c.3161T= (p.Leu1054=) | |
7 | g.117614649_117614665delinsTAGCCATGAATATCATG | CA1737392033 | CFTR | c.3404_3420delinsTAGCCATGAATATCATG (p.Leu1135=) c.*3118_*3134delinsTAGCCATGAATATCATG (n.*3118_*3134delinsTAGCCATGAATATCATG) c.3221_3237delinsTAGCCATGAATATCATG (p.Leu1074=) c.*1779_*1795delinsTAGCCATGAATATCATG (n.*1779_*1795delinsTAGCCATGAATATCATG) c.3398_3414delinsTAGCCATGAATATCATG (p.Leu1133=) c.*3228_*3244delinsTAGCCATGAATATCATG (n.*3228_*3244delinsTAGCCATGAATATCATG) c.2978_2994delinsTAGCCATGAATATCATG (p.Leu993=) c.152_168delinsTAGCCATGAATATCATG (p.Leu51=) c.995_1011delinsTAGCCATGAATATCATG (p.Leu332=) c.1054_1070delinsTAGCCATGAATATCATG c.2186_2202delinsTAGCCATGAATATCATG (p.Leu729=) c.3314_3330delinsTAGCCATGAATATCATG (p.Leu1105=) c.229_245delinsTAGCCATGAATATCATG c.3494_3510delinsTAGCCATGAATATCATG (p.Leu1165=) c.3161_3177delinsTAGCCATGAATATCATG (p.Leu1054=) | |
7 | g.117614650A>C | CA368993432 | CFTR | c.3405A>C (p.Leu1135Phe) c.*3119A>C (n.*3119A>C) c.3222A>C (p.Leu1074Phe) c.*1780A>C (n.*1780A>C) c.3399A>C (p.Leu1133Phe) c.*3229A>C (n.*3229A>C) c.2979A>C (p.Leu993Phe) c.153A>C (p.Leu51Phe) c.996A>C (p.Leu332Phe) c.1055A>C c.2187A>C (p.Leu729Phe) c.3315A>C (p.Leu1105Phe) c.230A>C c.3495A>C (p.Leu1165Phe) c.3162A>C (p.Leu1054Phe) | |
7 | g.117614650A>G | CA457230179 | CFTR | c.3405A>G (p.Leu1135=) c.*3119A>G (n.*3119A>G) c.3222A>G (p.Leu1074=) c.*1780A>G (n.*1780A>G) c.3399A>G (p.Leu1133=) c.*3229A>G (n.*3229A>G) c.2979A>G (p.Leu993=) c.153A>G (p.Leu51=) c.996A>G (p.Leu332=) c.1055A>G c.2187A>G (p.Leu729=) c.3315A>G (p.Leu1105=) c.230A>G c.3495A>G (p.Leu1165=) c.3162A>G (p.Leu1054=) | ClinVar |
7 | g.117614650A>T | CA368993430 | CFTR | c.3405A>T (p.Leu1135Phe) c.*3119A>T (n.*3119A>T) c.3222A>T (p.Leu1074Phe) c.*1780A>T (n.*1780A>T) c.3399A>T (p.Leu1133Phe) c.*3229A>T (n.*3229A>T) c.2979A>T (p.Leu993Phe) c.153A>T (p.Leu51Phe) c.996A>T (p.Leu332Phe) c.1055A>T c.2187A>T (p.Leu729Phe) c.3315A>T (p.Leu1105Phe) c.230A>T c.3495A>T (p.Leu1165Phe) c.3162A>T (p.Leu1054Phe) | |
7 | g.117614652_117614667del | CA1737392036 | CFTR | c.3407_3422del (p.Ala1136ValfsTer7) c.*3121_*3136del (n.*3121_*3136del) c.3224_3239del (p.Ala1075ValfsTer7) c.*1782_*1797del (n.*1782_*1797del) c.3401_3416del (p.Ala1134ValfsTer7) c.*3231_*3246del (n.*3231_*3246del) c.2981_2996del (p.Ala994ValfsTer7) c.155_170del (p.Ala52ValfsTer7) c.998_1013del (p.Ala333ValfsTer7) c.1057_1072del c.2189_2204del (p.Ala730ValfsTer7) c.3317_3332del (p.Ala1106ValfsTer7) c.232_247del c.3497_3512del (p.Ala1166ValfsTer7) c.3164_3179del (p.Ala1055ValfsTer7) | ClinVar dbSNP |
7 | g.117614651G>A | CA4451455 | CFTR | c.3406G>A (p.Ala1136Thr) c.*3120G>A (n.*3120G>A) c.3223G>A (p.Ala1075Thr) c.*1781G>A (n.*1781G>A) c.3400G>A (p.Ala1134Thr) c.*3230G>A (n.*3230G>A) c.2980G>A (p.Ala994Thr) c.154G>A (p.Ala52Thr) c.997G>A (p.Ala333Thr) c.1056G>A c.2188G>A (p.Ala730Thr) c.3316G>A (p.Ala1106Thr) c.231G>A c.3496G>A (p.Ala1166Thr) c.3163G>A (p.Ala1055Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614651G>C | CA368993436 | CFTR | c.3406G>C (p.Ala1136Pro) c.*3120G>C (n.*3120G>C) c.3223G>C (p.Ala1075Pro) c.*1781G>C (n.*1781G>C) c.3400G>C (p.Ala1134Pro) c.*3230G>C (n.*3230G>C) c.2980G>C (p.Ala994Pro) c.154G>C (p.Ala52Pro) c.997G>C (p.Ala333Pro) c.1056G>C c.2188G>C (p.Ala730Pro) c.3316G>C (p.Ala1106Pro) c.231G>C c.3496G>C (p.Ala1166Pro) c.3163G>C (p.Ala1055Pro) | |
7 | g.117614651G= | CA1737392040 | CFTR | c.3406G= (p.Ala1136=) c.*3120G= (n.*3120G=) c.3223G= (p.Ala1075=) c.*1781G= (n.*1781G=) c.3400G= (p.Ala1134=) c.*3230G= (n.*3230G=) c.2980G= (p.Ala994=) c.154G= (p.Ala52=) c.997G= (p.Ala333=) c.1056G= c.2188G= (p.Ala730=) c.3316G= (p.Ala1106=) c.231G= c.3496G= (p.Ala1166=) c.3163G= (p.Ala1055=) | |
7 | g.117614651G>T | CA368993438 | CFTR | c.3406G>T (p.Ala1136Ser) c.*3120G>T (n.*3120G>T) c.3223G>T (p.Ala1075Ser) c.*1781G>T (n.*1781G>T) c.3400G>T (p.Ala1134Ser) c.*3230G>T (n.*3230G>T) c.2980G>T (p.Ala994Ser) c.154G>T (p.Ala52Ser) c.997G>T (p.Ala333Ser) c.1056G>T c.2188G>T (p.Ala730Ser) c.3316G>T (p.Ala1106Ser) c.231G>T c.3496G>T (p.Ala1166Ser) c.3163G>T (p.Ala1055Ser) | |
7 | g.117614652C>A | CA368993442 | CFTR | c.3407C>A (p.Ala1136Asp) c.*3121C>A (n.*3121C>A) c.3224C>A (p.Ala1075Asp) c.*1782C>A (n.*1782C>A) c.3401C>A (p.Ala1134Asp) c.*3231C>A (n.*3231C>A) c.2981C>A (p.Ala994Asp) c.155C>A (p.Ala52Asp) c.998C>A (p.Ala333Asp) c.1057C>A c.2189C>A (p.Ala730Asp) c.3317C>A (p.Ala1106Asp) c.232C>A c.3497C>A (p.Ala1166Asp) c.3164C>A (p.Ala1055Asp) | |
7 | g.117614652C= | CA1737392049 | CFTR | c.3407C= (p.Ala1136=) c.*3121C= (n.*3121C=) c.3224C= (p.Ala1075=) c.*1782C= (n.*1782C=) c.3401C= (p.Ala1134=) c.*3231C= (n.*3231C=) c.2981C= (p.Ala994=) c.155C= (p.Ala52=) c.998C= (p.Ala333=) c.1057C= c.2189C= (p.Ala730=) c.3317C= (p.Ala1106=) c.232C= c.3497C= (p.Ala1166=) c.3164C= (p.Ala1055=) | |
7 | g.117614652C>G | CA368993444 | CFTR | c.3407C>G (p.Ala1136Gly) c.*3121C>G (n.*3121C>G) c.3224C>G (p.Ala1075Gly) c.*1782C>G (n.*1782C>G) c.3401C>G (p.Ala1134Gly) c.*3231C>G (n.*3231C>G) c.2981C>G (p.Ala994Gly) c.155C>G (p.Ala52Gly) c.998C>G (p.Ala333Gly) c.1057C>G c.2189C>G (p.Ala730Gly) c.3317C>G (p.Ala1106Gly) c.232C>G c.3497C>G (p.Ala1166Gly) c.3164C>G (p.Ala1055Gly) | |
7 | g.117614652C>T | CA368993447 | CFTR | c.3407C>T (p.Ala1136Val) c.*3121C>T (n.*3121C>T) c.3224C>T (p.Ala1075Val) c.*1782C>T (n.*1782C>T) c.3401C>T (p.Ala1134Val) c.*3231C>T (n.*3231C>T) c.2981C>T (p.Ala994Val) c.155C>T (p.Ala52Val) c.998C>T (p.Ala333Val) c.1057C>T c.2189C>T (p.Ala730Val) c.3317C>T (p.Ala1106Val) c.232C>T c.3497C>T (p.Ala1166Val) c.3164C>T (p.Ala1055Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614653C>A | CA457230181 | CFTR | c.3408C>A (p.Ala1136=) c.*3122C>A (n.*3122C>A) c.3225C>A (p.Ala1075=) c.*1783C>A (n.*1783C>A) c.3402C>A (p.Ala1134=) c.*3232C>A (n.*3232C>A) c.2982C>A (p.Ala994=) c.156C>A (p.Ala52=) c.999C>A (p.Ala333=) c.1058C>A c.2190C>A (p.Ala730=) c.3318C>A (p.Ala1106=) c.233C>A c.3498C>A (p.Ala1166=) c.3165C>A (p.Ala1055=) | |
7 | g.117614653C>G | CA457230182 | CFTR | c.3408C>G (p.Ala1136=) c.*3122C>G (n.*3122C>G) c.3225C>G (p.Ala1075=) c.*1783C>G (n.*1783C>G) c.3402C>G (p.Ala1134=) c.*3232C>G (n.*3232C>G) c.2982C>G (p.Ala994=) c.156C>G (p.Ala52=) c.999C>G (p.Ala333=) c.1058C>G c.2190C>G (p.Ala730=) c.3318C>G (p.Ala1106=) c.233C>G c.3498C>G (p.Ala1166=) c.3165C>G (p.Ala1055=) | |
7 | g.117614653C>T | CA457230183 | CFTR | c.3408C>T (p.Ala1136=) c.*3122C>T (n.*3122C>T) c.3225C>T (p.Ala1075=) c.*1783C>T (n.*1783C>T) c.3402C>T (p.Ala1134=) c.*3232C>T (n.*3232C>T) c.2982C>T (p.Ala994=) c.156C>T (p.Ala52=) c.999C>T (p.Ala333=) c.1058C>T c.2190C>T (p.Ala730=) c.3318C>T (p.Ala1106=) c.233C>T c.3498C>T (p.Ala1166=) c.3165C>T (p.Ala1055=) | ClinVar |
7 | g.117614654A= | CA1737392058 | CFTR | c.3409A= (p.Met1137=) c.*3123A= (n.*3123A=) c.3226A= (p.Met1076=) c.*1784A= (n.*1784A=) c.3403A= (p.Met1135=) c.*3233A= (n.*3233A=) c.2983A= (p.Met995=) c.157A= (p.Met53=) c.1000A= (p.Met334=) c.1059A= c.2191A= (p.Met731=) c.3319A= (p.Met1107=) c.234A= c.3499A= (p.Met1167=) c.3166A= (p.Met1056=) | |
7 | g.117614654A>C | CA368993450 | CFTR | c.3409A>C (p.Met1137Leu) c.*3123A>C (n.*3123A>C) c.3226A>C (p.Met1076Leu) c.*1784A>C (n.*1784A>C) c.3403A>C (p.Met1135Leu) c.*3233A>C (n.*3233A>C) c.2983A>C (p.Met995Leu) c.157A>C (p.Met53Leu) c.1000A>C (p.Met334Leu) c.1059A>C c.2191A>C (p.Met731Leu) c.3319A>C (p.Met1107Leu) c.234A>C c.3499A>C (p.Met1167Leu) c.3166A>C (p.Met1056Leu) | |
7 | g.117614654A>G | CA327169 | CFTR | c.3409A>G (p.Met1137Val) c.*3123A>G (n.*3123A>G) c.3226A>G (p.Met1076Val) c.*1784A>G (n.*1784A>G) c.3403A>G (p.Met1135Val) c.*3233A>G (n.*3233A>G) c.2983A>G (p.Met995Val) c.157A>G (p.Met53Val) c.1000A>G (p.Met334Val) c.1059A>G c.2191A>G (p.Met731Val) c.3319A>G (p.Met1107Val) c.234A>G c.3499A>G (p.Met1167Val) c.3166A>G (p.Met1056Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614654A>T | CA368993455 | CFTR | c.3409A>T (p.Met1137Leu) c.*3123A>T (n.*3123A>T) c.3226A>T (p.Met1076Leu) c.*1784A>T (n.*1784A>T) c.3403A>T (p.Met1135Leu) c.*3233A>T (n.*3233A>T) c.2983A>T (p.Met995Leu) c.157A>T (p.Met53Leu) c.1000A>T (p.Met334Leu) c.1059A>T c.2191A>T (p.Met731Leu) c.3319A>T (p.Met1107Leu) c.234A>T c.3499A>T (p.Met1167Leu) c.3166A>T (p.Met1056Leu) | |
7 | g.117614656_117614659del | CA2580076399 | CFTR | c.3411_3414del (p.Met1137IlefsTer3) c.*3125_*3128del (n.*3125_*3128del) c.3228_3231del (p.Met1076IlefsTer3) c.*1786_*1789del (n.*1786_*1789del) c.3405_3408del (p.Met1135IlefsTer3) c.*3235_*3238del (n.*3235_*3238del) c.2985_2988del (p.Met995IlefsTer3) c.159_162del (p.Met53IlefsTer3) c.1002_1005del (p.Met334IlefsTer3) c.1061_1064del c.2193_2196del (p.Met731IlefsTer3) c.3321_3324del (p.Met1107IlefsTer3) c.236_239del c.3501_3504del (p.Met1167IlefsTer3) c.3168_3171del (p.Met1056IlefsTer3) | ClinVar |
7 | g.117614655T>A | CA368993458 | CFTR | c.3410T>A (p.Met1137Lys) c.*3124T>A (n.*3124T>A) c.3227T>A (p.Met1076Lys) c.*1785T>A (n.*1785T>A) c.3404T>A (p.Met1135Lys) c.*3234T>A (n.*3234T>A) c.2984T>A (p.Met995Lys) c.158T>A (p.Met53Lys) c.1001T>A (p.Met334Lys) c.1060T>A c.2192T>A (p.Met731Lys) c.3320T>A (p.Met1107Lys) c.235T>A c.3500T>A (p.Met1167Lys) c.3167T>A (p.Met1056Lys) | |
7 | g.117614655T>C | CA4451456 | CFTR | c.3410T>C (p.Met1137Thr) c.*3124T>C (n.*3124T>C) c.3227T>C (p.Met1076Thr) c.*1785T>C (n.*1785T>C) c.3404T>C (p.Met1135Thr) c.*3234T>C (n.*3234T>C) c.2984T>C (p.Met995Thr) c.158T>C (p.Met53Thr) c.1001T>C (p.Met334Thr) c.1060T>C c.2192T>C (p.Met731Thr) c.3320T>C (p.Met1107Thr) c.235T>C c.3500T>C (p.Met1167Thr) c.3167T>C (p.Met1056Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614655T>G | CA327172 | CFTR | c.3410T>G (p.Met1137Arg) c.*3124T>G (n.*3124T>G) c.3227T>G (p.Met1076Arg) c.*1785T>G (n.*1785T>G) c.3404T>G (p.Met1135Arg) c.*3234T>G (n.*3234T>G) c.2984T>G (p.Met995Arg) c.158T>G (p.Met53Arg) c.1001T>G (p.Met334Arg) c.1060T>G c.2192T>G (p.Met731Arg) c.3320T>G (p.Met1107Arg) c.235T>G c.3500T>G (p.Met1167Arg) c.3167T>G (p.Met1056Arg) | ClinVar dbSNP |
7 | g.117614655T= | CA1737392068 | CFTR | c.3410T= (p.Met1137=) c.*3124T= (n.*3124T=) c.3227T= (p.Met1076=) c.*1785T= (n.*1785T=) c.3404T= (p.Met1135=) c.*3234T= (n.*3234T=) c.2984T= (p.Met995=) c.158T= (p.Met53=) c.1001T= (p.Met334=) c.1060T= c.2192T= (p.Met731=) c.3320T= (p.Met1107=) c.235T= c.3500T= (p.Met1167=) c.3167T= (p.Met1056=) | |
7 | g.117614656G>A | CA368993465 | CFTR | c.3411G>A (p.Met1137Ile) c.*3125G>A (n.*3125G>A) c.3228G>A (p.Met1076Ile) c.*1786G>A (n.*1786G>A) c.3405G>A (p.Met1135Ile) c.*3235G>A (n.*3235G>A) c.2985G>A (p.Met995Ile) c.159G>A (p.Met53Ile) c.1002G>A (p.Met334Ile) c.1061G>A c.2193G>A (p.Met731Ile) c.3321G>A (p.Met1107Ile) c.236G>A c.3501G>A (p.Met1167Ile) c.3168G>A (p.Met1056Ile) | |
7 | g.117614656G>C | CA164968816 | CFTR | c.3411G>C (p.Met1137Ile) c.*3125G>C (n.*3125G>C) c.3228G>C (p.Met1076Ile) c.*1786G>C (n.*1786G>C) c.3405G>C (p.Met1135Ile) c.*3235G>C (n.*3235G>C) c.2985G>C (p.Met995Ile) c.159G>C (p.Met53Ile) c.1002G>C (p.Met334Ile) c.1061G>C c.2193G>C (p.Met731Ile) c.3321G>C (p.Met1107Ile) c.236G>C c.3501G>C (p.Met1167Ile) c.3168G>C (p.Met1056Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614656G= | CA1737392079 | CFTR | c.3411G= (p.Met1137=) c.*3125G= (n.*3125G=) c.3228G= (p.Met1076=) c.*1786G= (n.*1786G=) c.3405G= (p.Met1135=) c.*3235G= (n.*3235G=) c.2985G= (p.Met995=) c.159G= (p.Met53=) c.1002G= (p.Met334=) c.1061G= c.2193G= (p.Met731=) c.3321G= (p.Met1107=) c.236G= c.3501G= (p.Met1167=) c.3168G= (p.Met1056=) | |
7 | g.117614656G>T | CA368993463 | CFTR | c.3411G>T (p.Met1137Ile) c.*3125G>T (n.*3125G>T) c.3228G>T (p.Met1076Ile) c.*1786G>T (n.*1786G>T) c.3405G>T (p.Met1135Ile) c.*3235G>T (n.*3235G>T) c.2985G>T (p.Met995Ile) c.159G>T (p.Met53Ile) c.1002G>T (p.Met334Ile) c.1061G>T c.2193G>T (p.Met731Ile) c.3321G>T (p.Met1107Ile) c.236G>T c.3501G>T (p.Met1167Ile) c.3168G>T (p.Met1056Ile) | |
7 | g.117614657A= | CA1737392084 | CFTR | c.3412A= (p.Asn1138=) c.*3126A= (n.*3126A=) c.3229A= (p.Asn1077=) c.*1787A= (n.*1787A=) c.3406A= (p.Asn1136=) c.*3236A= (n.*3236A=) c.2986A= (p.Asn996=) c.160A= (p.Asn54=) c.1003A= (p.Asn335=) c.1062A= c.2194A= (p.Asn732=) c.3322A= (p.Asn1108=) c.237A= c.3502A= (p.Asn1168=) c.3169A= (p.Asn1057=) | |
7 | g.117614657A>C | CA368993470 | CFTR | c.3412A>C (p.Asn1138His) c.*3126A>C (n.*3126A>C) c.3229A>C (p.Asn1077His) c.*1787A>C (n.*1787A>C) c.3406A>C (p.Asn1136His) c.*3236A>C (n.*3236A>C) c.2986A>C (p.Asn996His) c.160A>C (p.Asn54His) c.1003A>C (p.Asn335His) c.1062A>C c.2194A>C (p.Asn732His) c.3322A>C (p.Asn1108His) c.237A>C c.3502A>C (p.Asn1168His) c.3169A>C (p.Asn1057His) | dbSNP |
7 | g.117614657A>G | CA368993472 | CFTR | c.3412A>G (p.Asn1138Asp) c.*3126A>G (n.*3126A>G) c.3229A>G (p.Asn1077Asp) c.*1787A>G (n.*1787A>G) c.3406A>G (p.Asn1136Asp) c.*3236A>G (n.*3236A>G) c.2986A>G (p.Asn996Asp) c.160A>G (p.Asn54Asp) c.1003A>G (p.Asn335Asp) c.1062A>G c.2194A>G (p.Asn732Asp) c.3322A>G (p.Asn1108Asp) c.237A>G c.3502A>G (p.Asn1168Asp) c.3169A>G (p.Asn1057Asp) | |
7 | g.117614657A>T | CA368993474 | CFTR | c.3412A>T (p.Asn1138Tyr) c.*3126A>T (n.*3126A>T) c.3229A>T (p.Asn1077Tyr) c.*1787A>T (n.*1787A>T) c.3406A>T (p.Asn1136Tyr) c.*3236A>T (n.*3236A>T) c.2986A>T (p.Asn996Tyr) c.160A>T (p.Asn54Tyr) c.1003A>T (p.Asn335Tyr) c.1062A>T c.2194A>T (p.Asn732Tyr) c.3322A>T (p.Asn1108Tyr) c.237A>T c.3502A>T (p.Asn1168Tyr) c.3169A>T (p.Asn1057Tyr) | |
7 | g.117614658A>C | CA368993477 | CFTR | c.3413A>C (p.Asn1138Thr) c.*3127A>C (n.*3127A>C) c.3230A>C (p.Asn1077Thr) c.*1788A>C (n.*1788A>C) c.3407A>C (p.Asn1136Thr) c.*3237A>C (n.*3237A>C) c.2987A>C (p.Asn996Thr) c.161A>C (p.Asn54Thr) c.1004A>C (p.Asn335Thr) c.1063A>C c.2195A>C (p.Asn732Thr) c.3323A>C (p.Asn1108Thr) c.238A>C c.3503A>C (p.Asn1168Thr) c.3170A>C (p.Asn1057Thr) | |
7 | g.117614658A>G | CA368993480 | CFTR | c.3413A>G (p.Asn1138Ser) c.*3127A>G (n.*3127A>G) c.3230A>G (p.Asn1077Ser) c.*1788A>G (n.*1788A>G) c.3407A>G (p.Asn1136Ser) c.*3237A>G (n.*3237A>G) c.2987A>G (p.Asn996Ser) c.161A>G (p.Asn54Ser) c.1004A>G (p.Asn335Ser) c.1063A>G c.2195A>G (p.Asn732Ser) c.3323A>G (p.Asn1108Ser) c.238A>G c.3503A>G (p.Asn1168Ser) c.3170A>G (p.Asn1057Ser) | ClinVar gnomAD v4 |
7 | g.117614658A>T | CA368993482 | CFTR | c.3413A>T (p.Asn1138Ile) c.*3127A>T (n.*3127A>T) c.3230A>T (p.Asn1077Ile) c.*1788A>T (n.*1788A>T) c.3407A>T (p.Asn1136Ile) c.*3237A>T (n.*3237A>T) c.2987A>T (p.Asn996Ile) c.161A>T (p.Asn54Ile) c.1004A>T (p.Asn335Ile) c.1063A>T c.2195A>T (p.Asn732Ile) c.3323A>T (p.Asn1108Ile) c.238A>T c.3503A>T (p.Asn1168Ile) c.3170A>T (p.Asn1057Ile) | |
7 | g.117614659T>A | CA368993485 | CFTR | c.3414T>A (p.Asn1138Lys) c.*3128T>A (n.*3128T>A) c.3231T>A (p.Asn1077Lys) c.*1789T>A (n.*1789T>A) c.3408T>A (p.Asn1136Lys) c.*3238T>A (n.*3238T>A) c.2988T>A (p.Asn996Lys) c.162T>A (p.Asn54Lys) c.1005T>A (p.Asn335Lys) c.1064T>A c.2196T>A (p.Asn732Lys) c.3324T>A (p.Asn1108Lys) c.239T>A c.3504T>A (p.Asn1168Lys) c.3171T>A (p.Asn1057Lys) | |
7 | g.117614659T>C | CA457230184 | CFTR | c.3414T>C (p.Asn1138=) c.*3128T>C (n.*3128T>C) c.3231T>C (p.Asn1077=) c.*1789T>C (n.*1789T>C) c.3408T>C (p.Asn1136=) c.*3238T>C (n.*3238T>C) c.2988T>C (p.Asn996=) c.162T>C (p.Asn54=) c.1005T>C (p.Asn335=) c.1064T>C c.2196T>C (p.Asn732=) c.3324T>C (p.Asn1108=) c.239T>C c.3504T>C (p.Asn1168=) c.3171T>C (p.Asn1057=) | |
7 | g.117614659T>G | CA368993487 | CFTR | c.3414T>G (p.Asn1138Lys) c.*3128T>G (n.*3128T>G) c.3231T>G (p.Asn1077Lys) c.*1789T>G (n.*1789T>G) c.3408T>G (p.Asn1136Lys) c.*3238T>G (n.*3238T>G) c.2988T>G (p.Asn996Lys) c.162T>G (p.Asn54Lys) c.1005T>G (p.Asn335Lys) c.1064T>G c.2196T>G (p.Asn732Lys) c.3324T>G (p.Asn1108Lys) c.239T>G c.3504T>G (p.Asn1168Lys) c.3171T>G (p.Asn1057Lys) | |
7 | g.117614659_117614662delinsTATC | CA1737392087 | CFTR | c.3414_3417delinsTATC (p.Asn1138=) c.*3128_*3131delinsTATC (n.*3128_*3131delinsTATC) c.3231_3234delinsTATC (p.Asn1077=) c.*1789_*1792delinsTATC (n.*1789_*1792delinsTATC) c.3408_3411delinsTATC (p.Asn1136=) c.*3238_*3241delinsTATC (n.*3238_*3241delinsTATC) c.2988_2991delinsTATC (p.Asn996=) c.162_165delinsTATC (p.Asn54=) c.1005_1008delinsTATC (p.Asn335=) c.1064_1067delinsTATC c.2196_2199delinsTATC (p.Asn732=) c.3324_3327delinsTATC (p.Asn1108=) c.239_242delinsTATC c.3504_3507delinsTATC (p.Asn1168=) c.3171_3174delinsTATC (p.Asn1057=) | |
7 | g.117614660A= | CA1737392096 | CFTR | c.3415A= (p.Ile1139=) c.*3129A= (n.*3129A=) c.3232A= (p.Ile1078=) c.*1790A= (n.*1790A=) c.3409A= (p.Ile1137=) c.*3239A= (n.*3239A=) c.2989A= (p.Ile997=) c.163A= (p.Ile55=) c.1006A= (p.Ile336=) c.1065A= c.2197A= (p.Ile733=) c.3325A= (p.Ile1109=) c.240A= c.3505A= (p.Ile1169=) c.3172A= (p.Ile1058=) | |
7 | g.117614660A>C | CA368993488 | CFTR | c.3415A>C (p.Ile1139Leu) c.*3129A>C (n.*3129A>C) c.3232A>C (p.Ile1078Leu) c.*1790A>C (n.*1790A>C) c.3409A>C (p.Ile1137Leu) c.*3239A>C (n.*3239A>C) c.2989A>C (p.Ile997Leu) c.163A>C (p.Ile55Leu) c.1006A>C (p.Ile336Leu) c.1065A>C c.2197A>C (p.Ile733Leu) c.3325A>C (p.Ile1109Leu) c.240A>C c.3505A>C (p.Ile1169Leu) c.3172A>C (p.Ile1058Leu) | |
7 | g.117614660A>G | CA327174 | CFTR | c.3415A>G (p.Ile1139Val) c.*3129A>G (n.*3129A>G) c.3232A>G (p.Ile1078Val) c.*1790A>G (n.*1790A>G) c.3409A>G (p.Ile1137Val) c.*3239A>G (n.*3239A>G) c.2989A>G (p.Ile997Val) c.163A>G (p.Ile55Val) c.1006A>G (p.Ile336Val) c.1065A>G c.2197A>G (p.Ile733Val) c.3325A>G (p.Ile1109Val) c.240A>G c.3505A>G (p.Ile1169Val) c.3172A>G (p.Ile1058Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614660A>T | CA368993491 | CFTR | c.3415A>T (p.Ile1139Phe) c.*3129A>T (n.*3129A>T) c.3232A>T (p.Ile1078Phe) c.*1790A>T (n.*1790A>T) c.3409A>T (p.Ile1137Phe) c.*3239A>T (n.*3239A>T) c.2989A>T (p.Ile997Phe) c.163A>T (p.Ile55Phe) c.1006A>T (p.Ile336Phe) c.1065A>T c.2197A>T (p.Ile733Phe) c.3325A>T (p.Ile1109Phe) c.240A>T c.3505A>T (p.Ile1169Phe) c.3172A>T (p.Ile1058Phe) | |
7 | g.117614662_117614664del | CA577222849 | CFTR | c.3417_3419del (p.Ile1139del) c.*3131_*3133del (n.*3131_*3133del) c.3234_3236del (p.Ile1078del) c.*1792_*1794del (n.*1792_*1794del) c.3411_3413del (p.Ile1137del) c.*3241_*3243del (n.*3241_*3243del) c.2991_2993del (p.Ile997del) c.165_167del (p.Ile55del) c.1008_1010del (p.Ile336del) c.1067_1069del c.2199_2201del (p.Ile733del) c.3327_3329del (p.Ile1109del) c.242_244del c.3507_3509del (p.Ile1169del) c.3174_3176del (p.Ile1058del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614661T>A | CA368993494 | CFTR | c.3416T>A (p.Ile1139Asn) c.*3130T>A (n.*3130T>A) c.3233T>A (p.Ile1078Asn) c.*1791T>A (n.*1791T>A) c.3410T>A (p.Ile1137Asn) c.*3240T>A (n.*3240T>A) c.2990T>A (p.Ile997Asn) c.164T>A (p.Ile55Asn) c.1007T>A (p.Ile336Asn) c.1066T>A c.2198T>A (p.Ile733Asn) c.3326T>A (p.Ile1109Asn) c.241T>A c.3506T>A (p.Ile1169Asn) c.3173T>A (p.Ile1058Asn) | |
7 | g.117614661T>C | CA368993495 | CFTR | c.3416T>C (p.Ile1139Thr) c.*3130T>C (n.*3130T>C) c.3233T>C (p.Ile1078Thr) c.*1791T>C (n.*1791T>C) c.3410T>C (p.Ile1137Thr) c.*3240T>C (n.*3240T>C) c.2990T>C (p.Ile997Thr) c.164T>C (p.Ile55Thr) c.1007T>C (p.Ile336Thr) c.1066T>C c.2198T>C (p.Ile733Thr) c.3326T>C (p.Ile1109Thr) c.241T>C c.3506T>C (p.Ile1169Thr) c.3173T>C (p.Ile1058Thr) | |
7 | g.117614661T>G | CA368993497 | CFTR | c.3416T>G (p.Ile1139Ser) c.*3130T>G (n.*3130T>G) c.3233T>G (p.Ile1078Ser) c.*1791T>G (n.*1791T>G) c.3410T>G (p.Ile1137Ser) c.*3240T>G (n.*3240T>G) c.2990T>G (p.Ile997Ser) c.164T>G (p.Ile55Ser) c.1007T>G (p.Ile336Ser) c.1066T>G c.2198T>G (p.Ile733Ser) c.3326T>G (p.Ile1109Ser) c.241T>G c.3506T>G (p.Ile1169Ser) c.3173T>G (p.Ile1058Ser) | |
7 | g.117614662C>A | CA457230186 | CFTR | c.3417C>A (p.Ile1139=) c.*3131C>A (n.*3131C>A) c.3234C>A (p.Ile1078=) c.*1792C>A (n.*1792C>A) c.3411C>A (p.Ile1137=) c.*3241C>A (n.*3241C>A) c.2991C>A (p.Ile997=) c.165C>A (p.Ile55=) c.1008C>A (p.Ile336=) c.1067C>A c.2199C>A (p.Ile733=) c.3327C>A (p.Ile1109=) c.242C>A c.3507C>A (p.Ile1169=) c.3174C>A (p.Ile1058=) | |
7 | g.117614662C>G | CA368993499 | CFTR | c.3417C>G (p.Ile1139Met) c.*3131C>G (n.*3131C>G) c.3234C>G (p.Ile1078Met) c.*1792C>G (n.*1792C>G) c.3411C>G (p.Ile1137Met) c.*3241C>G (n.*3241C>G) c.2991C>G (p.Ile997Met) c.165C>G (p.Ile55Met) c.1008C>G (p.Ile336Met) c.1067C>G c.2199C>G (p.Ile733Met) c.3327C>G (p.Ile1109Met) c.242C>G c.3507C>G (p.Ile1169Met) c.3174C>G (p.Ile1058Met) | |
7 | g.117614662C>T | CA457230185 | CFTR | c.3417C>T (p.Ile1139=) c.*3131C>T (n.*3131C>T) c.3234C>T (p.Ile1078=) c.*1792C>T (n.*1792C>T) c.3411C>T (p.Ile1137=) c.*3241C>T (n.*3241C>T) c.2991C>T (p.Ile997=) c.165C>T (p.Ile55=) c.1008C>T (p.Ile336=) c.1067C>T c.2199C>T (p.Ile733=) c.3327C>T (p.Ile1109=) c.242C>T c.3507C>T (p.Ile1169=) c.3174C>T (p.Ile1058=) | |
7 | g.117614662_117614665delinsCATG | CA1737392104 | CFTR | c.3417_3420delinsCATG (p.Ile1139=) c.*3131_*3134delinsCATG (n.*3131_*3134delinsCATG) c.3234_3237delinsCATG (p.Ile1078=) c.*1792_*1795delinsCATG (n.*1792_*1795delinsCATG) c.3411_3414delinsCATG (p.Ile1137=) c.*3241_*3244delinsCATG (n.*3241_*3244delinsCATG) c.2991_2994delinsCATG (p.Ile997=) c.165_168delinsCATG (p.Ile55=) c.1008_1011delinsCATG (p.Ile336=) c.1067_1070delinsCATG c.2199_2202delinsCATG (p.Ile733=) c.3327_3330delinsCATG (p.Ile1109=) c.242_245delinsCATG c.3507_3510delinsCATG (p.Ile1169=) c.3174_3177delinsCATG (p.Ile1058=) | |
7 | g.117614663A= | CA1737392111 | CFTR | c.3418A= (p.Met1140=) c.*3132A= (n.*3132A=) c.3235A= (p.Met1079=) c.*1793A= (n.*1793A=) c.3412A= (p.Met1138=) c.*3242A= (n.*3242A=) c.2992A= (p.Met998=) c.166A= (p.Met56=) c.1009A= (p.Met337=) c.1068A= c.2200A= (p.Met734=) c.3328A= (p.Met1110=) c.243A= c.3508A= (p.Met1170=) c.3175A= (p.Met1059=) | |
7 | g.117614663A>C | CA368993503 | CFTR | c.3418A>C (p.Met1140Leu) c.*3132A>C (n.*3132A>C) c.3235A>C (p.Met1079Leu) c.*1793A>C (n.*1793A>C) c.3412A>C (p.Met1138Leu) c.*3242A>C (n.*3242A>C) c.2992A>C (p.Met998Leu) c.166A>C (p.Met56Leu) c.1009A>C (p.Met337Leu) c.1068A>C c.2200A>C (p.Met734Leu) c.3328A>C (p.Met1110Leu) c.243A>C c.3508A>C (p.Met1170Leu) c.3175A>C (p.Met1059Leu) | gnomAD v4 |
7 | g.117614663A>G | CA4451457 | CFTR | c.3418A>G (p.Met1140Val) c.*3132A>G (n.*3132A>G) c.3235A>G (p.Met1079Val) c.*1793A>G (n.*1793A>G) c.3412A>G (p.Met1138Val) c.*3242A>G (n.*3242A>G) c.2992A>G (p.Met998Val) c.166A>G (p.Met56Val) c.1009A>G (p.Met337Val) c.1068A>G c.2200A>G (p.Met734Val) c.3328A>G (p.Met1110Val) c.243A>G c.3508A>G (p.Met1170Val) c.3175A>G (p.Met1059Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614663A>T | CA368993506 | CFTR | c.3418A>T (p.Met1140Leu) c.*3132A>T (n.*3132A>T) c.3235A>T (p.Met1079Leu) c.*1793A>T (n.*1793A>T) c.3412A>T (p.Met1138Leu) c.*3242A>T (n.*3242A>T) c.2992A>T (p.Met998Leu) c.166A>T (p.Met56Leu) c.1009A>T (p.Met337Leu) c.1068A>T c.2200A>T (p.Met734Leu) c.3328A>T (p.Met1110Leu) c.243A>T c.3508A>T (p.Met1170Leu) c.3175A>T (p.Met1059Leu) | ClinVar |
7 | g.117614664_117614666del | CA327176 | CFTR | c.3419_3421del (p.Met1140del) c.*3133_*3135del (n.*3133_*3135del) c.3236_3238del (p.Met1079del) c.*1794_*1796del (n.*1794_*1796del) c.3413_3415del (p.Met1138del) c.*3243_*3245del (n.*3243_*3245del) c.2993_2995del (p.Met998del) c.167_169del (p.Met56del) c.1010_1012del (p.Met337del) c.1069_1071del c.2201_2203del (p.Met734del) c.3329_3331del (p.Met1110del) c.244_246del c.3509_3511del (p.Met1170del) c.3176_3178del (p.Met1059del) | ClinVar dbSNP |
7 | g.117614664T>A | CA327178 | CFTR | c.3419T>A (p.Met1140Lys) c.*3133T>A (n.*3133T>A) c.3236T>A (p.Met1079Lys) c.*1794T>A (n.*1794T>A) c.3413T>A (p.Met1138Lys) c.*3243T>A (n.*3243T>A) c.2993T>A (p.Met998Lys) c.167T>A (p.Met56Lys) c.1010T>A (p.Met337Lys) c.1T>A c.1069T>A c.2201T>A (p.Met734Lys) c.3329T>A (p.Met1110Lys) c.244T>A c.3509T>A (p.Met1170Lys) c.3176T>A (p.Met1059Lys) | ClinVar dbSNP |
7 | g.117614664T>C | CA368993513 | CFTR | c.3419T>C (p.Met1140Thr) c.*3133T>C (n.*3133T>C) c.3236T>C (p.Met1079Thr) c.*1794T>C (n.*1794T>C) c.3413T>C (p.Met1138Thr) c.*3243T>C (n.*3243T>C) c.2993T>C (p.Met998Thr) c.167T>C (p.Met56Thr) c.1010T>C (p.Met337Thr) c.1T>C c.1069T>C c.2201T>C (p.Met734Thr) c.3329T>C (p.Met1110Thr) c.244T>C c.3509T>C (p.Met1170Thr) c.3176T>C (p.Met1059Thr) | |
7 | g.117614664T>G | CA368993511 | CFTR | c.3419T>G (p.Met1140Arg) c.*3133T>G (n.*3133T>G) c.3236T>G (p.Met1079Arg) c.*1794T>G (n.*1794T>G) c.3413T>G (p.Met1138Arg) c.*3243T>G (n.*3243T>G) c.2993T>G (p.Met998Arg) c.167T>G (p.Met56Arg) c.1010T>G (p.Met337Arg) c.1T>G c.1069T>G c.2201T>G (p.Met734Arg) c.3329T>G (p.Met1110Arg) c.244T>G c.3509T>G (p.Met1170Arg) c.3176T>G (p.Met1059Arg) | |
7 | g.117614664T= | CA1737392118 | CFTR | c.3419T= (p.Met1140=) c.*3133T= (n.*3133T=) c.3236T= (p.Met1079=) c.*1794T= (n.*1794T=) c.3413T= (p.Met1138=) c.*3243T= (n.*3243T=) c.2993T= (p.Met998=) c.167T= (p.Met56=) c.1010T= (p.Met337=) c.1T= c.1069T= c.2201T= (p.Met734=) c.3329T= (p.Met1110=) c.244T= c.3509T= (p.Met1170=) c.3176T= (p.Met1059=) | |
7 | g.117614665G>A | CA368993516 | CFTR | c.3420G>A (p.Met1140Ile) c.*3134G>A (n.*3134G>A) c.3237G>A (p.Met1079Ile) c.*1795G>A (n.*1795G>A) c.3414G>A (p.Met1138Ile) c.*3244G>A (n.*3244G>A) c.2994G>A (p.Met998Ile) c.168G>A (p.Met56Ile) c.1011G>A (p.Met337Ile) c.2G>A c.1070G>A c.2202G>A (p.Met734Ile) c.3330G>A (p.Met1110Ile) c.245G>A c.3510G>A (p.Met1170Ile) c.3177G>A (p.Met1059Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117614665G>C | CA368993520 | CFTR | c.3420G>C (p.Met1140Ile) c.*3134G>C (n.*3134G>C) c.3237G>C (p.Met1079Ile) c.*1795G>C (n.*1795G>C) c.3414G>C (p.Met1138Ile) c.*3244G>C (n.*3244G>C) c.2994G>C (p.Met998Ile) c.168G>C (p.Met56Ile) c.1011G>C (p.Met337Ile) c.2G>C c.1070G>C c.2202G>C (p.Met734Ile) c.3330G>C (p.Met1110Ile) c.245G>C c.3510G>C (p.Met1170Ile) c.3177G>C (p.Met1059Ile) | gnomAD v4 |
7 | g.117614665G= | CA1737392124 | CFTR | c.3420G= (p.Met1140=) c.*3134G= (n.*3134G=) c.3237G= (p.Met1079=) c.*1795G= (n.*1795G=) c.3414G= (p.Met1138=) c.*3244G= (n.*3244G=) c.2994G= (p.Met998=) c.168G= (p.Met56=) c.1011G= (p.Met337=) c.2G= c.1070G= c.2202G= (p.Met734=) c.3330G= (p.Met1110=) c.245G= c.3510G= (p.Met1170=) c.3177G= (p.Met1059=) | |
7 | g.117614665G>T | CA368993518 | CFTR | c.3420G>T (p.Met1140Ile) c.*3134G>T (n.*3134G>T) c.3237G>T (p.Met1079Ile) c.*1795G>T (n.*1795G>T) c.3414G>T (p.Met1138Ile) c.*3244G>T (n.*3244G>T) c.2994G>T (p.Met998Ile) c.168G>T (p.Met56Ile) c.1011G>T (p.Met337Ile) c.2G>T c.1070G>T c.2202G>T (p.Met734Ile) c.3330G>T (p.Met1110Ile) c.245G>T c.3510G>T (p.Met1170Ile) c.3177G>T (p.Met1059Ile) | |
7 | g.117614666A= | CA1737392129 | CFTR | c.3421A= (p.Ser1141=) c.*3135A= (n.*3135A=) c.3238A= (p.Ser1080=) c.*1796A= (n.*1796A=) c.3415A= (p.Ser1139=) c.*3245A= (n.*3245A=) c.2995A= (p.Ser999=) c.169A= (p.Ser57=) c.1012A= (p.Ser338=) c.3A= c.1071A= c.2203A= (p.Ser735=) c.3331A= (p.Ser1111=) c.246A= c.3511A= (p.Ser1171=) c.3178A= (p.Ser1060=) | |
7 | g.117614666A>C | CA368993523 | CFTR | c.3421A>C (p.Ser1141Arg) c.*3135A>C (n.*3135A>C) c.3238A>C (p.Ser1080Arg) c.*1796A>C (n.*1796A>C) c.3415A>C (p.Ser1139Arg) c.*3245A>C (n.*3245A>C) c.2995A>C (p.Ser999Arg) c.169A>C (p.Ser57Arg) c.1012A>C (p.Ser338Arg) c.3A>C c.1071A>C c.2203A>C (p.Ser735Arg) c.3331A>C (p.Ser1111Arg) c.246A>C c.3511A>C (p.Ser1171Arg) c.3178A>C (p.Ser1060Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614666A>G | CA368993526 | CFTR | c.3421A>G (p.Ser1141Gly) c.*3135A>G (n.*3135A>G) c.3238A>G (p.Ser1080Gly) c.*1796A>G (n.*1796A>G) c.3415A>G (p.Ser1139Gly) c.*3245A>G (n.*3245A>G) c.2995A>G (p.Ser999Gly) c.169A>G (p.Ser57Gly) c.1012A>G (p.Ser338Gly) c.3A>G c.1071A>G c.2203A>G (p.Ser735Gly) c.3331A>G (p.Ser1111Gly) c.246A>G c.3511A>G (p.Ser1171Gly) c.3178A>G (p.Ser1060Gly) | |
7 | g.117614666A>T | CA368993528 | CFTR | c.3421A>T (p.Ser1141Cys) c.*3135A>T (n.*3135A>T) c.3238A>T (p.Ser1080Cys) c.*1796A>T (n.*1796A>T) c.3415A>T (p.Ser1139Cys) c.*3245A>T (n.*3245A>T) c.2995A>T (p.Ser999Cys) c.169A>T (p.Ser57Cys) c.1012A>T (p.Ser338Cys) c.3A>T c.1071A>T c.2203A>T (p.Ser735Cys) c.3331A>T (p.Ser1111Cys) c.246A>T c.3511A>T (p.Ser1171Cys) c.3178A>T (p.Ser1060Cys) | |
7 | g.117614666_117614669dup | CA327180 | CFTR | c.3421_3424dup (p.Thr1142LysfsTer15) c.*3135_*3138dup (n.*3135_*3138dup) c.3238_3241dup (p.Thr1081LysfsTer15) c.*1796_*1799dup (n.*1796_*1799dup) c.3415_3418dup (p.Thr1140LysfsTer15) c.*3245_*3248dup (n.*3245_*3248dup) c.2995_2998dup (p.Thr1000LysfsTer15) c.169_172dup (p.Thr58LysfsTer15) c.1012_1015dup (p.Thr339LysfsTer15) c.3_6dup c.1071_1074dup c.2203_2206dup (p.Thr736LysfsTer15) c.3331_3334dup (p.Thr1112LysfsTer15) c.246_249dup c.3511_3514dup (p.Thr1172LysfsTer15) c.3178_3181dup (p.Thr1061LysfsTer15) | ClinVar dbSNP |
7 | g.117614667G>A | CA368993530 | CFTR | c.3422G>A (p.Ser1141Asn) c.*3136G>A (n.*3136G>A) c.3239G>A (p.Ser1080Asn) c.*1797G>A (n.*1797G>A) c.3416G>A (p.Ser1139Asn) c.*3246G>A (n.*3246G>A) c.2996G>A (p.Ser999Asn) c.170G>A (p.Ser57Asn) c.1013G>A (p.Ser338Asn) c.4G>A c.1072G>A c.2204G>A (p.Ser735Asn) c.3332G>A (p.Ser1111Asn) c.247G>A c.3512G>A (p.Ser1171Asn) c.3179G>A (p.Ser1060Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614667G>C | CA368993532 | CFTR | c.3422G>C (p.Ser1141Thr) c.*3136G>C (n.*3136G>C) c.3239G>C (p.Ser1080Thr) c.*1797G>C (n.*1797G>C) c.3416G>C (p.Ser1139Thr) c.*3246G>C (n.*3246G>C) c.2996G>C (p.Ser999Thr) c.170G>C (p.Ser57Thr) c.1013G>C (p.Ser338Thr) c.4G>C c.1072G>C c.2204G>C (p.Ser735Thr) c.3332G>C (p.Ser1111Thr) c.247G>C c.3512G>C (p.Ser1171Thr) c.3179G>C (p.Ser1060Thr) | |
7 | g.117614667G= | CA1737392139 | CFTR | c.3422G= (p.Ser1141=) c.*3136G= (n.*3136G=) c.3239G= (p.Ser1080=) c.*1797G= (n.*1797G=) c.3416G= (p.Ser1139=) c.*3246G= (n.*3246G=) c.2996G= (p.Ser999=) c.170G= (p.Ser57=) c.1013G= (p.Ser338=) c.4G= c.1072G= c.2204G= (p.Ser735=) c.3332G= (p.Ser1111=) c.247G= c.3512G= (p.Ser1171=) c.3179G= (p.Ser1060=) | |
7 | g.117614667G>T | CA368993534 | CFTR | c.3422G>T (p.Ser1141Ile) c.*3136G>T (n.*3136G>T) c.3239G>T (p.Ser1080Ile) c.*1797G>T (n.*1797G>T) c.3416G>T (p.Ser1139Ile) c.*3246G>T (n.*3246G>T) c.2996G>T (p.Ser999Ile) c.170G>T (p.Ser57Ile) c.1013G>T (p.Ser338Ile) c.4G>T c.1072G>T c.2204G>T (p.Ser735Ile) c.3332G>T (p.Ser1111Ile) c.247G>T c.3512G>T (p.Ser1171Ile) c.3179G>T (p.Ser1060Ile) | COSMIC |
7 | g.117614668T>A | CA4451458 | CFTR | c.3423T>A (p.Ser1141Arg) c.*3137T>A (n.*3137T>A) c.3240T>A (p.Ser1080Arg) c.*1798T>A (n.*1798T>A) c.3417T>A (p.Ser1139Arg) c.*3247T>A (n.*3247T>A) c.2997T>A (p.Ser999Arg) c.171T>A (p.Ser57Arg) c.1014T>A (p.Ser338Arg) c.5T>A c.1073T>A c.2205T>A (p.Ser735Arg) c.3333T>A (p.Ser1111Arg) c.248T>A c.3513T>A (p.Ser1171Arg) c.3180T>A (p.Ser1060Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614668T>C | CA457230187 | CFTR | c.3423T>C (p.Ser1141=) c.*3137T>C (n.*3137T>C) c.3240T>C (p.Ser1080=) c.*1798T>C (n.*1798T>C) c.3417T>C (p.Ser1139=) c.*3247T>C (n.*3247T>C) c.2997T>C (p.Ser999=) c.171T>C (p.Ser57=) c.1014T>C (p.Ser338=) c.5T>C c.1073T>C c.2205T>C (p.Ser735=) c.3333T>C (p.Ser1111=) c.248T>C c.3513T>C (p.Ser1171=) c.3180T>C (p.Ser1060=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614668T>G | CA368993538 | CFTR | c.3423T>G (p.Ser1141Arg) c.*3137T>G (n.*3137T>G) c.3240T>G (p.Ser1080Arg) c.*1798T>G (n.*1798T>G) c.3417T>G (p.Ser1139Arg) c.*3247T>G (n.*3247T>G) c.2997T>G (p.Ser999Arg) c.171T>G (p.Ser57Arg) c.1014T>G (p.Ser338Arg) c.5T>G c.1073T>G c.2205T>G (p.Ser735Arg) c.3333T>G (p.Ser1111Arg) c.248T>G c.3513T>G (p.Ser1171Arg) c.3180T>G (p.Ser1060Arg) | ClinVar dbSNP |
7 | g.117614668T= | CA1737392146 | CFTR | c.3423T= (p.Ser1141=) c.*3137T= (n.*3137T=) c.3240T= (p.Ser1080=) c.*1798T= (n.*1798T=) c.3417T= (p.Ser1139=) c.*3247T= (n.*3247T=) c.2997T= (p.Ser999=) c.171T= (p.Ser57=) c.1014T= (p.Ser338=) c.5T= c.1073T= c.2205T= (p.Ser735=) c.3333T= (p.Ser1111=) c.248T= c.3513T= (p.Ser1171=) c.3180T= (p.Ser1060=) | |
7 | g.117614672_117614673insATCACATTAAATTTACAT | CA1737392147 | CFTR | c.3427_3428insATCACATTAAATTTACAT (p.Thr1142_Leu1143insTyrHisIleLysPheThr) c.*3141_*3142insATCACATTAAATTTACAT (n.*3141_*3142insATCACATTAAATTTACAT) c.3244_3245insATCACATTAAATTTACAT (p.Thr1081_Leu1082insTyrHisIleLysPheThr) c.*1802_*1803insATCACATTAAATTTACAT (n.*1802_*1803insATCACATTAAATTTACAT) c.3421_3422insATCACATTAAATTTACAT (p.Thr1140_Leu1141insTyrHisIleLysPheThr) c.*3251_*3252insATCACATTAAATTTACAT (n.*3251_*3252insATCACATTAAATTTACAT) c.3001_3002insATCACATTAAATTTACAT (p.Thr1000_Leu1001insTyrHisIleLysPheThr) c.175_176insATCACATTAAATTTACAT (p.Thr58_Leu59insTyrHisIleLysPheThr) c.1018_1019insATCACATTAAATTTACAT (p.Thr339_Leu340insTyrHisIleLysPheThr) c.9_10insATCACATTAAATTTACAT c.1077_1078insATCACATTAAATTTACAT c.2209_2210insATCACATTAAATTTACAT (p.Thr736_Leu737insTyrHisIleLysPheThr) c.3337_3338insATCACATTAAATTTACAT (p.Thr1112_Leu1113insTyrHisIleLysPheThr) c.252_253insATCACATTAAATTTACAT c.3517_3518insATCACATTAAATTTACAT (p.Thr1172_Leu1173insTyrHisIleLysPheThr) c.3184_3185insATCACATTAAATTTACAT (p.Thr1061_Leu1062insTyrHisIleLysPheThr) | dbSNP |
7 | g.117614669A>C | CA368993540 | CFTR | c.3424A>C (p.Thr1142Pro) c.*3138A>C (n.*3138A>C) c.3241A>C (p.Thr1081Pro) c.*1799A>C (n.*1799A>C) c.3418A>C (p.Thr1140Pro) c.*3248A>C (n.*3248A>C) c.2998A>C (p.Thr1000Pro) c.172A>C (p.Thr58Pro) c.1015A>C (p.Thr339Pro) c.6A>C c.1074A>C c.2206A>C (p.Thr736Pro) c.3334A>C (p.Thr1112Pro) c.249A>C c.3514A>C (p.Thr1172Pro) c.3181A>C (p.Thr1061Pro) | |
7 | g.117614669A>G | CA368993543 | CFTR | c.3424A>G (p.Thr1142Ala) c.*3138A>G (n.*3138A>G) c.3241A>G (p.Thr1081Ala) c.*1799A>G (n.*1799A>G) c.3418A>G (p.Thr1140Ala) c.*3248A>G (n.*3248A>G) c.2998A>G (p.Thr1000Ala) c.172A>G (p.Thr58Ala) c.1015A>G (p.Thr339Ala) c.6A>G c.1074A>G c.2206A>G (p.Thr736Ala) c.3334A>G (p.Thr1112Ala) c.249A>G c.3514A>G (p.Thr1172Ala) c.3181A>G (p.Thr1061Ala) | |
7 | g.117614669A>T | CA368993545 | CFTR | c.3424A>T (p.Thr1142Ser) c.*3138A>T (n.*3138A>T) c.3241A>T (p.Thr1081Ser) c.*1799A>T (n.*1799A>T) c.3418A>T (p.Thr1140Ser) c.*3248A>T (n.*3248A>T) c.2998A>T (p.Thr1000Ser) c.172A>T (p.Thr58Ser) c.1015A>T (p.Thr339Ser) c.6A>T c.1074A>T c.2206A>T (p.Thr736Ser) c.3334A>T (p.Thr1112Ser) c.249A>T c.3514A>T (p.Thr1172Ser) c.3181A>T (p.Thr1061Ser) | |
7 | g.117614670C>A | CA368993548 | CFTR | c.3425C>A (p.Thr1142Lys) c.*3139C>A (n.*3139C>A) c.3242C>A (p.Thr1081Lys) c.*1800C>A (n.*1800C>A) c.3419C>A (p.Thr1140Lys) c.*3249C>A (n.*3249C>A) c.2999C>A (p.Thr1000Lys) c.173C>A (p.Thr58Lys) c.1016C>A (p.Thr339Lys) c.7C>A c.1075C>A c.2207C>A (p.Thr736Lys) c.3335C>A (p.Thr1112Lys) c.250C>A c.3515C>A (p.Thr1172Lys) c.3182C>A (p.Thr1061Lys) | |
7 | g.117614670C= | CA1737392151 | CFTR | c.3425C= (p.Thr1142=) c.*3139C= (n.*3139C=) c.3242C= (p.Thr1081=) c.*1800C= (n.*1800C=) c.3419C= (p.Thr1140=) c.*3249C= (n.*3249C=) c.2999C= (p.Thr1000=) c.173C= (p.Thr58=) c.1016C= (p.Thr339=) c.7C= c.1075C= c.2207C= (p.Thr736=) c.3335C= (p.Thr1112=) c.250C= c.3515C= (p.Thr1172=) c.3182C= (p.Thr1061=) | |
7 | g.117614670C>G | CA368993550 | CFTR | c.3425C>G (p.Thr1142Arg) c.*3139C>G (n.*3139C>G) c.3242C>G (p.Thr1081Arg) c.*1800C>G (n.*1800C>G) c.3419C>G (p.Thr1140Arg) c.*3249C>G (n.*3249C>G) c.2999C>G (p.Thr1000Arg) c.173C>G (p.Thr58Arg) c.1016C>G (p.Thr339Arg) c.7C>G c.1075C>G c.2207C>G (p.Thr736Arg) c.3335C>G (p.Thr1112Arg) c.250C>G c.3515C>G (p.Thr1172Arg) c.3182C>G (p.Thr1061Arg) | |
7 | g.117614670C>T | CA368993552 | CFTR | c.3425C>T (p.Thr1142Ile) c.*3139C>T (n.*3139C>T) c.3242C>T (p.Thr1081Ile) c.*1800C>T (n.*1800C>T) c.3419C>T (p.Thr1140Ile) c.*3249C>T (n.*3249C>T) c.2999C>T (p.Thr1000Ile) c.173C>T (p.Thr58Ile) c.1016C>T (p.Thr339Ile) c.7C>T c.1075C>T c.2207C>T (p.Thr736Ile) c.3335C>T (p.Thr1112Ile) c.250C>T c.3515C>T (p.Thr1172Ile) c.3182C>T (p.Thr1061Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.117614671A= | CA1737392155 | CFTR | c.3426A= (p.Thr1142=) c.*3140A= (n.*3140A=) c.3243A= (p.Thr1081=) c.*1801A= (n.*1801A=) c.3420A= (p.Thr1140=) c.*3250A= (n.*3250A=) c.3000A= (p.Thr1000=) c.174A= (p.Thr58=) c.1017A= (p.Thr339=) c.8A= c.1076A= c.2208A= (p.Thr736=) c.3336A= (p.Thr1112=) c.251A= c.3516A= (p.Thr1172=) c.3183A= (p.Thr1061=) | |
7 | g.117614671A>C | CA457230188 | CFTR | c.3426A>C (p.Thr1142=) c.*3140A>C (n.*3140A>C) c.3243A>C (p.Thr1081=) c.*1801A>C (n.*1801A>C) c.3420A>C (p.Thr1140=) c.*3250A>C (n.*3250A>C) c.3000A>C (p.Thr1000=) c.174A>C (p.Thr58=) c.1017A>C (p.Thr339=) c.8A>C c.1076A>C c.2208A>C (p.Thr736=) c.3336A>C (p.Thr1112=) c.251A>C c.3516A>C (p.Thr1172=) c.3183A>C (p.Thr1061=) | gnomAD v4 |
7 | g.117614671A>G | CA457230189 | CFTR | c.3426A>G (p.Thr1142=) c.*3140A>G (n.*3140A>G) c.3243A>G (p.Thr1081=) c.*1801A>G (n.*1801A>G) c.3420A>G (p.Thr1140=) c.*3250A>G (n.*3250A>G) c.3000A>G (p.Thr1000=) c.174A>G (p.Thr58=) c.1017A>G (p.Thr339=) c.8A>G c.1076A>G c.2208A>G (p.Thr736=) c.3336A>G (p.Thr1112=) c.251A>G c.3516A>G (p.Thr1172=) c.3183A>G (p.Thr1061=) | ClinVar dbSNP |
7 | g.117614671A>T | CA457230190 | CFTR | c.3426A>T (p.Thr1142=) c.*3140A>T (n.*3140A>T) c.3243A>T (p.Thr1081=) c.*1801A>T (n.*1801A>T) c.3420A>T (p.Thr1140=) c.*3250A>T (n.*3250A>T) c.3000A>T (p.Thr1000=) c.174A>T (p.Thr58=) c.1017A>T (p.Thr339=) c.8A>T c.1076A>T c.2208A>T (p.Thr736=) c.3336A>T (p.Thr1112=) c.251A>T c.3516A>T (p.Thr1172=) c.3183A>T (p.Thr1061=) | gnomAD v4 |
7 | g.117614672T>A | CA368993559 | CFTR | c.3427T>A (p.Leu1143Met) c.*3141T>A (n.*3141T>A) c.3244T>A (p.Leu1082Met) c.*1802T>A (n.*1802T>A) c.3421T>A (p.Leu1141Met) c.*3251T>A (n.*3251T>A) c.3001T>A (p.Leu1001Met) c.175T>A (p.Leu59Met) c.1018T>A (p.Leu340Met) c.9T>A c.1077T>A c.2209T>A (p.Leu737Met) c.3337T>A (p.Leu1113Met) c.252T>A c.3517T>A (p.Leu1173Met) c.3184T>A (p.Leu1062Met) | |
7 | g.117614672T>C | CA164968844 | CFTR | c.3427T>C (p.Leu1143=) c.*3141T>C (n.*3141T>C) c.3244T>C (p.Leu1082=) c.*1802T>C (n.*1802T>C) c.3421T>C (p.Leu1141=) c.*3251T>C (n.*3251T>C) c.3001T>C (p.Leu1001=) c.175T>C (p.Leu59=) c.1018T>C (p.Leu340=) c.9T>C c.1077T>C c.2209T>C (p.Leu737=) c.3337T>C (p.Leu1113=) c.252T>C c.3517T>C (p.Leu1173=) c.3184T>C (p.Leu1062=) | ClinVar dbSNP gnomAD v4 |
7 | g.117614672T>G | CA368993557 | CFTR | c.3427T>G (p.Leu1143Val) c.*3141T>G (n.*3141T>G) c.3244T>G (p.Leu1082Val) c.*1802T>G (n.*1802T>G) c.3421T>G (p.Leu1141Val) c.*3251T>G (n.*3251T>G) c.3001T>G (p.Leu1001Val) c.175T>G (p.Leu59Val) c.1018T>G (p.Leu340Val) c.9T>G c.1077T>G c.2209T>G (p.Leu737Val) c.3337T>G (p.Leu1113Val) c.252T>G c.3517T>G (p.Leu1173Val) c.3184T>G (p.Leu1062Val) | |
7 | g.117614672T= | CA1737392158 | CFTR | c.3427T= (p.Leu1143=) c.*3141T= (n.*3141T=) c.3244T= (p.Leu1082=) c.*1802T= (n.*1802T=) c.3421T= (p.Leu1141=) c.*3251T= (n.*3251T=) c.3001T= (p.Leu1001=) c.175T= (p.Leu59=) c.1018T= (p.Leu340=) c.9T= c.1077T= c.2209T= (p.Leu737=) c.3337T= (p.Leu1113=) c.252T= c.3517T= (p.Leu1173=) c.3184T= (p.Leu1062=) | |
7 | g.117614672_117614673insATCACATTAAATT | CA1737392157 | CFTR | c.3427_3428insATCACATTAAATT (p.Leu1143TyrfsTer17) c.*3141_*3142insATCACATTAAATT (n.*3141_*3142insATCACATTAAATT) c.3244_3245insATCACATTAAATT (p.Leu1082TyrfsTer17) c.*1802_*1803insATCACATTAAATT (n.*1802_*1803insATCACATTAAATT) c.3421_3422insATCACATTAAATT (p.Leu1141TyrfsTer17) c.*3251_*3252insATCACATTAAATT (n.*3251_*3252insATCACATTAAATT) c.3001_3002insATCACATTAAATT (p.Leu1001TyrfsTer17) c.175_176insATCACATTAAATT (p.Leu59TyrfsTer17) c.1018_1019insATCACATTAAATT (p.Leu340TyrfsTer17) c.9_10insATCACATTAAATT c.1077_1078insATCACATTAAATT c.2209_2210insATCACATTAAATT (p.Leu737TyrfsTer17) c.3337_3338insATCACATTAAATT (p.Leu1113TyrfsTer17) c.252_253insATCACATTAAATT c.3517_3518insATCACATTAAATT (p.Leu1173TyrfsTer17) c.3184_3185insATCACATTAAATT (p.Leu1062TyrfsTer17) | dbSNP |
7 | g.117614672_117614673insATCACATTAAATTTACATTTCAATTTTATGCTAA | CA2556057710 | CFTR | c.3427_3428insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1143TyrfsTer24) c.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3141_*3142insATCACATTAAATTTACATTTCAATTTTATGCTAA) c.3244_3245insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1082TyrfsTer24) c.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*1802_*1803insATCACATTAAATTTACATTTCAATTTTATGCTAA) c.3421_3422insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1141TyrfsTer24) c.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA (n.*3251_*3252insATCACATTAAATTTACATTTCAATTTTATGCTAA) c.3001_3002insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1001TyrfsTer24) c.175_176insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu59TyrfsTer24) c.1018_1019insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu340TyrfsTer24) c.9_10insATCACATTAAATTTACATTTCAATTTTATGCTAA c.1077_1078insATCACATTAAATTTACATTTCAATTTTATGCTAA c.2209_2210insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu737TyrfsTer24) c.3337_3338insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1113TyrfsTer24) c.252_253insATCACATTAAATTTACATTTCAATTTTATGCTAA c.3517_3518insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1173TyrfsTer24) c.3184_3185insATCACATTAAATTTACATTTCAATTTTATGCTAA (p.Leu1062TyrfsTer24) | |
7 | g.117614673T>A | CA368993561 | CFTR | c.3428T>A (p.Leu1143Ter) c.*3142T>A (n.*3142T>A) c.3245T>A (p.Leu1082Ter) c.*1803T>A (n.*1803T>A) c.3422T>A (p.Leu1141Ter) c.*3252T>A (n.*3252T>A) c.3002T>A (p.Leu1001Ter) c.176T>A (p.Leu59Ter) c.1019T>A (p.Leu340Ter) c.10T>A c.1078T>A c.2210T>A (p.Leu737Ter) c.3338T>A (p.Leu1113Ter) c.253T>A c.3518T>A (p.Leu1173Ter) c.3185T>A (p.Leu1062Ter) | ClinVar |
7 | g.117614673T>C | CA368993563 | CFTR | c.3428T>C (p.Leu1143Ser) c.*3142T>C (n.*3142T>C) c.3245T>C (p.Leu1082Ser) c.*1803T>C (n.*1803T>C) c.3422T>C (p.Leu1141Ser) c.*3252T>C (n.*3252T>C) c.3002T>C (p.Leu1001Ser) c.176T>C (p.Leu59Ser) c.1019T>C (p.Leu340Ser) c.10T>C c.1078T>C c.2210T>C (p.Leu737Ser) c.3338T>C (p.Leu1113Ser) c.253T>C c.3518T>C (p.Leu1173Ser) c.3185T>C (p.Leu1062Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.117614673T>G | CA368993565 | CFTR | c.3428T>G (p.Leu1143Trp) c.*3142T>G (n.*3142T>G) c.3245T>G (p.Leu1082Trp) c.*1803T>G (n.*1803T>G) c.3422T>G (p.Leu1141Trp) c.*3252T>G (n.*3252T>G) c.3002T>G (p.Leu1001Trp) c.176T>G (p.Leu59Trp) c.1019T>G (p.Leu340Trp) c.10T>G c.1078T>G c.2210T>G (p.Leu737Trp) c.3338T>G (p.Leu1113Trp) c.253T>G c.3518T>G (p.Leu1173Trp) c.3185T>G (p.Leu1062Trp) | |
7 | g.117614673T= | CA1737392160 | CFTR | c.3428T= (p.Leu1143=) c.*3142T= (n.*3142T=) c.3245T= (p.Leu1082=) c.*1803T= (n.*1803T=) c.3422T= (p.Leu1141=) c.*3252T= (n.*3252T=) c.3002T= (p.Leu1001=) c.176T= (p.Leu59=) c.1019T= (p.Leu340=) c.10T= c.1078T= c.2210T= (p.Leu737=) c.3338T= (p.Leu1113=) c.253T= c.3518T= (p.Leu1173=) c.3185T= (p.Leu1062=) | |
7 | g.117614674G>A | CA4451459 | CFTR | c.3429G>A (p.Leu1143=) c.*3143G>A (n.*3143G>A) c.3246G>A (p.Leu1082=) c.*1804G>A (n.*1804G>A) c.3423G>A (p.Leu1141=) c.*3253G>A (n.*3253G>A) c.3003G>A (p.Leu1001=) c.177G>A (p.Leu59=) c.1020G>A (p.Leu340=) c.11G>A c.1079G>A c.2211G>A (p.Leu737=) c.3339G>A (p.Leu1113=) c.254G>A c.3519G>A (p.Leu1173=) c.3186G>A (p.Leu1062=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614674G>C | CA368993569 | CFTR | c.3429G>C (p.Leu1143Phe) c.*3143G>C (n.*3143G>C) c.3246G>C (p.Leu1082Phe) c.*1804G>C (n.*1804G>C) c.3423G>C (p.Leu1141Phe) c.*3253G>C (n.*3253G>C) c.3003G>C (p.Leu1001Phe) c.177G>C (p.Leu59Phe) c.1020G>C (p.Leu340Phe) c.11G>C c.1079G>C c.2211G>C (p.Leu737Phe) c.3339G>C (p.Leu1113Phe) c.254G>C c.3519G>C (p.Leu1173Phe) c.3186G>C (p.Leu1062Phe) | |
7 | g.117614674G= | CA1737392164 | CFTR | c.3429G= (p.Leu1143=) c.*3143G= (n.*3143G=) c.3246G= (p.Leu1082=) c.*1804G= (n.*1804G=) c.3423G= (p.Leu1141=) c.*3253G= (n.*3253G=) c.3003G= (p.Leu1001=) c.177G= (p.Leu59=) c.1020G= (p.Leu340=) c.11G= c.1079G= c.2211G= (p.Leu737=) c.3339G= (p.Leu1113=) c.254G= c.3519G= (p.Leu1173=) c.3186G= (p.Leu1062=) | |
7 | g.117614674G>T | CA368993571 | CFTR | c.3429G>T (p.Leu1143Phe) c.*3143G>T (n.*3143G>T) c.3246G>T (p.Leu1082Phe) c.*1804G>T (n.*1804G>T) c.3423G>T (p.Leu1141Phe) c.*3253G>T (n.*3253G>T) c.3003G>T (p.Leu1001Phe) c.177G>T (p.Leu59Phe) c.1020G>T (p.Leu340Phe) c.11G>T c.1079G>T c.2211G>T (p.Leu737Phe) c.3339G>T (p.Leu1113Phe) c.254G>T c.3519G>T (p.Leu1173Phe) c.3186G>T (p.Leu1062Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614675C>A | CA368993573 | CFTR | c.3430C>A (p.Gln1144Lys) c.*3144C>A (n.*3144C>A) c.3247C>A (p.Gln1083Lys) c.*1805C>A (n.*1805C>A) c.3424C>A (p.Gln1142Lys) c.*3254C>A (n.*3254C>A) c.3004C>A (p.Gln1002Lys) c.178C>A (p.Gln60Lys) c.1021C>A (p.Gln341Lys) c.12C>A c.1080C>A c.2212C>A (p.Gln738Lys) c.3340C>A (p.Gln1114Lys) c.255C>A c.3520C>A (p.Gln1174Lys) c.3187C>A (p.Gln1063Lys) | |
7 | g.117614675C= | CA1737392170 | CFTR | c.3430C= (p.Gln1144=) c.*3144C= (n.*3144C=) c.3247C= (p.Gln1083=) c.*1805C= (n.*1805C=) c.3424C= (p.Gln1142=) c.*3254C= (n.*3254C=) c.3004C= (p.Gln1002=) c.178C= (p.Gln60=) c.1021C= (p.Gln341=) c.12C= c.1080C= c.2212C= (p.Gln738=) c.3340C= (p.Gln1114=) c.255C= c.3520C= (p.Gln1174=) c.3187C= (p.Gln1063=) | |
7 | g.117614675C>G | CA368993575 | CFTR | c.3430C>G (p.Gln1144Glu) c.*3144C>G (n.*3144C>G) c.3247C>G (p.Gln1083Glu) c.*1805C>G (n.*1805C>G) c.3424C>G (p.Gln1142Glu) c.*3254C>G (n.*3254C>G) c.3004C>G (p.Gln1002Glu) c.178C>G (p.Gln60Glu) c.1021C>G (p.Gln341Glu) c.12C>G c.1080C>G c.2212C>G (p.Gln738Glu) c.3340C>G (p.Gln1114Glu) c.255C>G c.3520C>G (p.Gln1174Glu) c.3187C>G (p.Gln1063Glu) | |
7 | g.117614675C>T | CA327181 | CFTR | c.3430C>T (p.Gln1144Ter) c.*3144C>T (n.*3144C>T) c.3247C>T (p.Gln1083Ter) c.*1805C>T (n.*1805C>T) c.3424C>T (p.Gln1142Ter) c.*3254C>T (n.*3254C>T) c.3004C>T (p.Gln1002Ter) c.178C>T (p.Gln60Ter) c.1021C>T (p.Gln341Ter) c.12C>T c.1080C>T c.2212C>T (p.Gln738Ter) c.3340C>T (p.Gln1114Ter) c.255C>T c.3520C>T (p.Gln1174Ter) c.3187C>T (p.Gln1063Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117614676A>C | CA368993579 | CFTR | c.3431A>C (p.Gln1144Pro) c.*3145A>C (n.*3145A>C) c.3248A>C (p.Gln1083Pro) c.*1806A>C (n.*1806A>C) c.3425A>C (p.Gln1142Pro) c.*3255A>C (n.*3255A>C) c.3005A>C (p.Gln1002Pro) c.179A>C (p.Gln60Pro) c.1022A>C (p.Gln341Pro) c.13A>C c.1081A>C c.2213A>C (p.Gln738Pro) c.3341A>C (p.Gln1114Pro) c.256A>C c.3521A>C (p.Gln1174Pro) c.3188A>C (p.Gln1063Pro) | |
7 | g.117614676A>G | CA368993581 | CFTR | c.3431A>G (p.Gln1144Arg) c.*3145A>G (n.*3145A>G) c.3248A>G (p.Gln1083Arg) c.*1806A>G (n.*1806A>G) c.3425A>G (p.Gln1142Arg) c.*3255A>G (n.*3255A>G) c.3005A>G (p.Gln1002Arg) c.179A>G (p.Gln60Arg) c.1022A>G (p.Gln341Arg) c.13A>G c.1081A>G c.2213A>G (p.Gln738Arg) c.3341A>G (p.Gln1114Arg) c.256A>G c.3521A>G (p.Gln1174Arg) c.3188A>G (p.Gln1063Arg) | |
7 | g.117614676A>T | CA368993583 | CFTR | c.3431A>T (p.Gln1144Leu) c.*3145A>T (n.*3145A>T) c.3248A>T (p.Gln1083Leu) c.*1806A>T (n.*1806A>T) c.3425A>T (p.Gln1142Leu) c.*3255A>T (n.*3255A>T) c.3005A>T (p.Gln1002Leu) c.179A>T (p.Gln60Leu) c.1022A>T (p.Gln341Leu) c.13A>T c.1081A>T c.2213A>T (p.Gln738Leu) c.3341A>T (p.Gln1114Leu) c.256A>T c.3521A>T (p.Gln1174Leu) c.3188A>T (p.Gln1063Leu) | |
7 | g.117614677G>A | CA457230193 | CFTR | c.3432G>A (p.Gln1144=) c.*3146G>A (n.*3146G>A) c.3249G>A (p.Gln1083=) c.*1807G>A (n.*1807G>A) c.3426G>A (p.Gln1142=) c.*3256G>A (n.*3256G>A) c.3006G>A (p.Gln1002=) c.180G>A (p.Gln60=) c.1023G>A (p.Gln341=) c.14G>A c.1082G>A c.2214G>A (p.Gln738=) c.3342G>A (p.Gln1114=) c.257G>A c.3522G>A (p.Gln1174=) c.3189G>A (p.Gln1063=) | ClinVar |
7 | g.117614677G>C | CA368993585 | CFTR | c.3432G>C (p.Gln1144His) c.*3146G>C (n.*3146G>C) c.3249G>C (p.Gln1083His) c.*1807G>C (n.*1807G>C) c.3426G>C (p.Gln1142His) c.*3256G>C (n.*3256G>C) c.3006G>C (p.Gln1002His) c.180G>C (p.Gln60His) c.1023G>C (p.Gln341His) c.14G>C c.1082G>C c.2214G>C (p.Gln738His) c.3342G>C (p.Gln1114His) c.257G>C c.3522G>C (p.Gln1174His) c.3189G>C (p.Gln1063His) | |
7 | g.117614677G= | CA1737392176 | CFTR | c.3432G= (p.Gln1144=) c.*3146G= (n.*3146G=) c.3249G= (p.Gln1083=) c.*1807G= (n.*1807G=) c.3426G= (p.Gln1142=) c.*3256G= (n.*3256G=) c.3006G= (p.Gln1002=) c.180G= (p.Gln60=) c.1023G= (p.Gln341=) c.14G= c.1082G= c.2214G= (p.Gln738=) c.3342G= (p.Gln1114=) c.257G= c.3522G= (p.Gln1174=) c.3189G= (p.Gln1063=) | |
7 | g.117614677G>T | CA368993588 | CFTR | c.3432G>T (p.Gln1144His) c.*3146G>T (n.*3146G>T) c.3249G>T (p.Gln1083His) c.*1807G>T (n.*1807G>T) c.3426G>T (p.Gln1142His) c.*3256G>T (n.*3256G>T) c.3006G>T (p.Gln1002His) c.180G>T (p.Gln60His) c.1023G>T (p.Gln341His) c.14G>T c.1082G>T c.2214G>T (p.Gln738His) c.3342G>T (p.Gln1114His) c.257G>T c.3522G>T (p.Gln1174His) c.3189G>T (p.Gln1063His) | dbSNP |
7 | g.117614678T>A | CA368993590 | CFTR | c.3433T>A (p.Trp1145Arg) c.*3147T>A (n.*3147T>A) c.3250T>A (p.Trp1084Arg) c.*1808T>A (n.*1808T>A) c.3427T>A (p.Trp1143Arg) c.*3257T>A (n.*3257T>A) c.3007T>A (p.Trp1003Arg) c.181T>A (p.Trp61Arg) c.1024T>A (p.Trp342Arg) c.15T>A c.1083T>A c.2215T>A (p.Trp739Arg) c.3343T>A (p.Trp1115Arg) c.258T>A c.3523T>A (p.Trp1175Arg) c.3190T>A (p.Trp1064Arg) | |
7 | g.117614678T>C | CA368993591 | CFTR | c.3433T>C (p.Trp1145Arg) c.*3147T>C (n.*3147T>C) c.3250T>C (p.Trp1084Arg) c.*1808T>C (n.*1808T>C) c.3427T>C (p.Trp1143Arg) c.*3257T>C (n.*3257T>C) c.3007T>C (p.Trp1003Arg) c.181T>C (p.Trp61Arg) c.1024T>C (p.Trp342Arg) c.15T>C c.1083T>C c.2215T>C (p.Trp739Arg) c.3343T>C (p.Trp1115Arg) c.258T>C c.3523T>C (p.Trp1175Arg) c.3190T>C (p.Trp1064Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117614678T>G | CA368993593 | CFTR | c.3433T>G (p.Trp1145Gly) c.*3147T>G (n.*3147T>G) c.3250T>G (p.Trp1084Gly) c.*1808T>G (n.*1808T>G) c.3427T>G (p.Trp1143Gly) c.*3257T>G (n.*3257T>G) c.3007T>G (p.Trp1003Gly) c.181T>G (p.Trp61Gly) c.1024T>G (p.Trp342Gly) c.15T>G c.1083T>G c.2215T>G (p.Trp739Gly) c.3343T>G (p.Trp1115Gly) c.258T>G c.3523T>G (p.Trp1175Gly) c.3190T>G (p.Trp1064Gly) | |
7 | g.117614679G>A | CA368993596 | CFTR | c.3434G>A (p.Trp1145Ter) c.*3148G>A (n.*3148G>A) c.3251G>A (p.Trp1084Ter) c.*1809G>A (n.*1809G>A) c.3428G>A (p.Trp1143Ter) c.*3258G>A (n.*3258G>A) c.3008G>A (p.Trp1003Ter) c.182G>A (p.Trp61Ter) c.1025G>A (p.Trp342Ter) c.16G>A c.1084G>A c.2216G>A (p.Trp739Ter) c.3344G>A (p.Trp1115Ter) c.259G>A c.3524G>A (p.Trp1175Ter) c.3191G>A (p.Trp1064Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.117614679G>C | CA368993597 | CFTR | c.3434G>C (p.Trp1145Ser) c.*3148G>C (n.*3148G>C) c.3251G>C (p.Trp1084Ser) c.*1809G>C (n.*1809G>C) c.3428G>C (p.Trp1143Ser) c.*3258G>C (n.*3258G>C) c.3008G>C (p.Trp1003Ser) c.182G>C (p.Trp61Ser) c.1025G>C (p.Trp342Ser) c.16G>C c.1084G>C c.2216G>C (p.Trp739Ser) c.3344G>C (p.Trp1115Ser) c.259G>C c.3524G>C (p.Trp1175Ser) c.3191G>C (p.Trp1064Ser) | ClinVar |
7 | g.117614679G= | CA1737392181 | CFTR | c.3434G= (p.Trp1145=) c.*3148G= (n.*3148G=) c.3251G= (p.Trp1084=) c.*1809G= (n.*1809G=) c.3428G= (p.Trp1143=) c.*3258G= (n.*3258G=) c.3008G= (p.Trp1003=) c.182G= (p.Trp61=) c.1025G= (p.Trp342=) c.16G= c.1084G= c.2216G= (p.Trp739=) c.3344G= (p.Trp1115=) c.259G= c.3524G= (p.Trp1175=) c.3191G= (p.Trp1064=) | |
7 | g.117614679G>T | CA368993600 | CFTR | c.3434G>T (p.Trp1145Leu) c.*3148G>T (n.*3148G>T) c.3251G>T (p.Trp1084Leu) c.*1809G>T (n.*1809G>T) c.3428G>T (p.Trp1143Leu) c.*3258G>T (n.*3258G>T) c.3008G>T (p.Trp1003Leu) c.182G>T (p.Trp61Leu) c.1025G>T (p.Trp342Leu) c.16G>T c.1084G>T c.2216G>T (p.Trp739Leu) c.3344G>T (p.Trp1115Leu) c.259G>T c.3524G>T (p.Trp1175Leu) c.3191G>T (p.Trp1064Leu) | |
7 | g.117614680G>A | CA327183 | CFTR | c.3435G>A (p.Trp1145Ter) c.*3149G>A (n.*3149G>A) c.3252G>A (p.Trp1084Ter) c.*1810G>A (n.*1810G>A) c.3429G>A (p.Trp1143Ter) c.*3259G>A (n.*3259G>A) c.3009G>A (p.Trp1003Ter) c.183G>A (p.Trp61Ter) c.1026G>A (p.Trp342Ter) c.17G>A c.1085G>A c.2217G>A (p.Trp739Ter) c.3345G>A (p.Trp1115Ter) c.260G>A c.3525G>A (p.Trp1175Ter) c.3192G>A (p.Trp1064Ter) | ClinVar dbSNP |
7 | g.117614680G>C | CA368993603 | CFTR | c.3435G>C (p.Trp1145Cys) c.*3149G>C (n.*3149G>C) c.3252G>C (p.Trp1084Cys) c.*1810G>C (n.*1810G>C) c.3429G>C (p.Trp1143Cys) c.*3259G>C (n.*3259G>C) c.3009G>C (p.Trp1003Cys) c.183G>C (p.Trp61Cys) c.1026G>C (p.Trp342Cys) c.17G>C c.1085G>C c.2217G>C (p.Trp739Cys) c.3345G>C (p.Trp1115Cys) c.260G>C c.3525G>C (p.Trp1175Cys) c.3192G>C (p.Trp1064Cys) | |
7 | g.117614680G= | CA1737392187 | CFTR | c.3435G= (p.Trp1145=) c.*3149G= (n.*3149G=) c.3252G= (p.Trp1084=) c.*1810G= (n.*1810G=) c.3429G= (p.Trp1143=) c.*3259G= (n.*3259G=) c.3009G= (p.Trp1003=) c.183G= (p.Trp61=) c.1026G= (p.Trp342=) c.17G= c.1085G= c.2217G= (p.Trp739=) c.3345G= (p.Trp1115=) c.260G= c.3525G= (p.Trp1175=) c.3192G= (p.Trp1064=) | |
7 | g.117614680G>T | CA368993605 | CFTR | c.3435G>T (p.Trp1145Cys) c.*3149G>T (n.*3149G>T) c.3252G>T (p.Trp1084Cys) c.*1810G>T (n.*1810G>T) c.3429G>T (p.Trp1143Cys) c.*3259G>T (n.*3259G>T) c.3009G>T (p.Trp1003Cys) c.183G>T (p.Trp61Cys) c.1026G>T (p.Trp342Cys) c.17G>T c.1085G>T c.2217G>T (p.Trp739Cys) c.3345G>T (p.Trp1115Cys) c.260G>T c.3525G>T (p.Trp1175Cys) c.3192G>T (p.Trp1064Cys) | |
7 | g.117614681G>A | CA368993608 | CFTR | c.3436G>A (p.Ala1146Thr) c.*3150G>A (n.*3150G>A) c.3253G>A (p.Ala1085Thr) c.*1811G>A (n.*1811G>A) c.3430G>A (p.Ala1144Thr) c.*3260G>A (n.*3260G>A) c.3010G>A (p.Ala1004Thr) c.184G>A (p.Ala62Thr) c.1027G>A (p.Ala343Thr) c.18G>A c.1086G>A c.2218G>A (p.Ala740Thr) c.3346G>A (p.Ala1116Thr) c.261G>A c.3526G>A (p.Ala1176Thr) c.3193G>A (p.Ala1065Thr) | gnomAD v4 |
7 | g.117614681G>C | CA368993610 | CFTR | c.3436G>C (p.Ala1146Pro) c.*3150G>C (n.*3150G>C) c.3253G>C (p.Ala1085Pro) c.*1811G>C (n.*1811G>C) c.3430G>C (p.Ala1144Pro) c.*3260G>C (n.*3260G>C) c.3010G>C (p.Ala1004Pro) c.184G>C (p.Ala62Pro) c.1027G>C (p.Ala343Pro) c.18G>C c.1086G>C c.2218G>C (p.Ala740Pro) c.3346G>C (p.Ala1116Pro) c.261G>C c.3526G>C (p.Ala1176Pro) c.3193G>C (p.Ala1065Pro) | |
7 | g.117614681G>T | CA368993611 | CFTR | c.3436G>T (p.Ala1146Ser) c.*3150G>T (n.*3150G>T) c.3253G>T (p.Ala1085Ser) c.*1811G>T (n.*1811G>T) c.3430G>T (p.Ala1144Ser) c.*3260G>T (n.*3260G>T) c.3010G>T (p.Ala1004Ser) c.184G>T (p.Ala62Ser) c.1027G>T (p.Ala343Ser) c.18G>T c.1086G>T c.2218G>T (p.Ala740Ser) c.3346G>T (p.Ala1116Ser) c.261G>T c.3526G>T (p.Ala1176Ser) c.3193G>T (p.Ala1065Ser) | |
7 | g.117614682C>A | CA4451460 | CFTR | c.3437C>A (p.Ala1146Asp) c.*3151C>A (n.*3151C>A) c.3254C>A (p.Ala1085Asp) c.*1812C>A (n.*1812C>A) c.3431C>A (p.Ala1144Asp) c.*3261C>A (n.*3261C>A) c.3011C>A (p.Ala1004Asp) c.185C>A (p.Ala62Asp) c.1028C>A (p.Ala343Asp) c.19C>A c.1087C>A c.2219C>A (p.Ala740Asp) c.3347C>A (p.Ala1116Asp) c.262C>A c.3527C>A (p.Ala1176Asp) c.3194C>A (p.Ala1065Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614682C= | CA1737392191 | CFTR | c.3437C= (p.Ala1146=) c.*3151C= (n.*3151C=) c.3254C= (p.Ala1085=) c.*1812C= (n.*1812C=) c.3431C= (p.Ala1144=) c.*3261C= (n.*3261C=) c.3011C= (p.Ala1004=) c.185C= (p.Ala62=) c.1028C= (p.Ala343=) c.19C= c.1087C= c.2219C= (p.Ala740=) c.3347C= (p.Ala1116=) c.262C= c.3527C= (p.Ala1176=) c.3194C= (p.Ala1065=) | |
7 | g.117614682C>G | CA368993615 | CFTR | c.3437C>G (p.Ala1146Gly) c.*3151C>G (n.*3151C>G) c.3254C>G (p.Ala1085Gly) c.*1812C>G (n.*1812C>G) c.3431C>G (p.Ala1144Gly) c.*3261C>G (n.*3261C>G) c.3011C>G (p.Ala1004Gly) c.185C>G (p.Ala62Gly) c.1028C>G (p.Ala343Gly) c.19C>G c.1087C>G c.2219C>G (p.Ala740Gly) c.3347C>G (p.Ala1116Gly) c.262C>G c.3527C>G (p.Ala1176Gly) c.3194C>G (p.Ala1065Gly) | |
7 | g.117614682C>T | CA368993613 | CFTR | c.3437C>T (p.Ala1146Val) c.*3151C>T (n.*3151C>T) c.3254C>T (p.Ala1085Val) c.*1812C>T (n.*1812C>T) c.3431C>T (p.Ala1144Val) c.*3261C>T (n.*3261C>T) c.3011C>T (p.Ala1004Val) c.185C>T (p.Ala62Val) c.1028C>T (p.Ala343Val) c.19C>T c.1087C>T c.2219C>T (p.Ala740Val) c.3347C>T (p.Ala1116Val) c.262C>T c.3527C>T (p.Ala1176Val) c.3194C>T (p.Ala1065Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614682_117614683insACATATCACATTAAATTTACATTTCAATTTTA | CA1737392196 | CFTR | c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1147HisfsTer12) c.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA (n.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA) c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1086HisfsTer12) c.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA (n.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA) c.3431_3432insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1145HisfsTer12) c.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA (n.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA) c.3011_3012insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1005HisfsTer12) c.185_186insACATATCACATTAAATTTACATTTCAATTTTA (p.Val63HisfsTer12) c.1028_1029insACATATCACATTAAATTTACATTTCAATTTTA (p.Val344HisfsTer12) c.19_20insACATATCACATTAAATTTACATTTCAATTTTA c.1087_1088insACATATCACATTAAATTTACATTTCAATTTTA c.2219_2220insACATATCACATTAAATTTACATTTCAATTTTA (p.Val741HisfsTer12) c.3347_3348insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1117HisfsTer12) c.262_263insACATATCACATTAAATTTACATTTCAATTTTA c.3527_3528insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1177HisfsTer12) c.3194_3195insACATATCACATTAAATTTACATTTCAATTTTA (p.Val1066HisfsTer12) | dbSNP |
7 | g.117614683T>A | CA457230196 | CFTR | c.3438T>A (p.Ala1146=) c.*3152T>A (n.*3152T>A) c.3255T>A (p.Ala1085=) c.*1813T>A (n.*1813T>A) c.3432T>A (p.Ala1144=) c.*3262T>A (n.*3262T>A) c.3012T>A (p.Ala1004=) c.186T>A (p.Ala62=) c.1029T>A (p.Ala343=) c.20T>A c.1088T>A c.2220T>A (p.Ala740=) c.3348T>A (p.Ala1116=) c.263T>A c.3528T>A (p.Ala1176=) c.3195T>A (p.Ala1065=) | |
7 | g.117614683T>C | CA457230194 | CFTR | c.3438T>C (p.Ala1146=) c.*3152T>C (n.*3152T>C) c.3255T>C (p.Ala1085=) c.*1813T>C (n.*1813T>C) c.3432T>C (p.Ala1144=) c.*3262T>C (n.*3262T>C) c.3012T>C (p.Ala1004=) c.186T>C (p.Ala62=) c.1029T>C (p.Ala343=) c.20T>C c.1088T>C c.2220T>C (p.Ala740=) c.3348T>C (p.Ala1116=) c.263T>C c.3528T>C (p.Ala1176=) c.3195T>C (p.Ala1065=) | |
7 | g.117614683T>G | CA457230195 | CFTR | c.3438T>G (p.Ala1146=) c.*3152T>G (n.*3152T>G) c.3255T>G (p.Ala1085=) c.*1813T>G (n.*1813T>G) c.3432T>G (p.Ala1144=) c.*3262T>G (n.*3262T>G) c.3012T>G (p.Ala1004=) c.186T>G (p.Ala62=) c.1029T>G (p.Ala343=) c.20T>G c.1088T>G c.2220T>G (p.Ala740=) c.3348T>G (p.Ala1116=) c.263T>G c.3528T>G (p.Ala1176=) c.3195T>G (p.Ala1065=) | |
7 | g.117614684G>A | CA327185 | CFTR | c.3439G>A (p.Val1147Ile) c.*3153G>A (n.*3153G>A) c.3256G>A (p.Val1086Ile) c.*1814G>A (n.*1814G>A) c.3433G>A (p.Val1145Ile) c.*3263G>A (n.*3263G>A) c.3013G>A (p.Val1005Ile) c.187G>A (p.Val63Ile) c.1030G>A (p.Val344Ile) c.21G>A c.1089G>A c.2221G>A (p.Val741Ile) c.3349G>A (p.Val1117Ile) c.264G>A c.3529G>A (p.Val1177Ile) c.3196G>A (p.Val1066Ile) | ClinVar dbSNP |
7 | g.117614684G>C | CA368993621 | CFTR | c.3439G>C (p.Val1147Leu) c.*3153G>C (n.*3153G>C) c.3256G>C (p.Val1086Leu) c.*1814G>C (n.*1814G>C) c.3433G>C (p.Val1145Leu) c.*3263G>C (n.*3263G>C) c.3013G>C (p.Val1005Leu) c.187G>C (p.Val63Leu) c.1030G>C (p.Val344Leu) c.21G>C c.1089G>C c.2221G>C (p.Val741Leu) c.3349G>C (p.Val1117Leu) c.264G>C c.3529G>C (p.Val1177Leu) c.3196G>C (p.Val1066Leu) | |
7 | g.117614684G= | CA1737392204 | CFTR | c.3439G= (p.Val1147=) c.*3153G= (n.*3153G=) c.3256G= (p.Val1086=) c.*1814G= (n.*1814G=) c.3433G= (p.Val1145=) c.*3263G= (n.*3263G=) c.3013G= (p.Val1005=) c.187G= (p.Val63=) c.1030G= (p.Val344=) c.21G= c.1089G= c.2221G= (p.Val741=) c.3349G= (p.Val1117=) c.264G= c.3529G= (p.Val1177=) c.3196G= (p.Val1066=) | |
7 | g.117614684G>T | CA368993622 | CFTR | c.3439G>T (p.Val1147Leu) c.*3153G>T (n.*3153G>T) c.3256G>T (p.Val1086Leu) c.*1814G>T (n.*1814G>T) c.3433G>T (p.Val1145Leu) c.*3263G>T (n.*3263G>T) c.3013G>T (p.Val1005Leu) c.187G>T (p.Val63Leu) c.1030G>T (p.Val344Leu) c.21G>T c.1089G>T c.2221G>T (p.Val741Leu) c.3349G>T (p.Val1117Leu) c.264G>T c.3529G>T (p.Val1177Leu) c.3196G>T (p.Val1066Leu) | |
7 | g.117614685T>A | CA368993625 | CFTR | c.3440T>A (p.Val1147Glu) c.*3154T>A (n.*3154T>A) c.3257T>A (p.Val1086Glu) c.*1815T>A (n.*1815T>A) c.3434T>A (p.Val1145Glu) c.*3264T>A (n.*3264T>A) c.3014T>A (p.Val1005Glu) c.188T>A (p.Val63Glu) c.1031T>A (p.Val344Glu) c.22T>A c.1090T>A c.2222T>A (p.Val741Glu) c.3350T>A (p.Val1117Glu) c.265T>A c.3530T>A (p.Val1177Glu) c.3197T>A (p.Val1066Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614685T>C | CA368993627 | CFTR | c.3440T>C (p.Val1147Ala) c.*3154T>C (n.*3154T>C) c.3257T>C (p.Val1086Ala) c.*1815T>C (n.*1815T>C) c.3434T>C (p.Val1145Ala) c.*3264T>C (n.*3264T>C) c.3014T>C (p.Val1005Ala) c.188T>C (p.Val63Ala) c.1031T>C (p.Val344Ala) c.22T>C c.1090T>C c.2222T>C (p.Val741Ala) c.3350T>C (p.Val1117Ala) c.265T>C c.3530T>C (p.Val1177Ala) c.3197T>C (p.Val1066Ala) | gnomAD v4 |
7 | g.117614685T>G | CA368993628 | CFTR | c.3440T>G (p.Val1147Gly) c.*3154T>G (n.*3154T>G) c.3257T>G (p.Val1086Gly) c.*1815T>G (n.*1815T>G) c.3434T>G (p.Val1145Gly) c.*3264T>G (n.*3264T>G) c.3014T>G (p.Val1005Gly) c.188T>G (p.Val63Gly) c.1031T>G (p.Val344Gly) c.22T>G c.1090T>G c.2222T>G (p.Val741Gly) c.3350T>G (p.Val1117Gly) c.265T>G c.3530T>G (p.Val1177Gly) c.3197T>G (p.Val1066Gly) | |
7 | g.117614685T= | CA1737392211 | CFTR | c.3440T= (p.Val1147=) c.*3154T= (n.*3154T=) c.3257T= (p.Val1086=) c.*1815T= (n.*1815T=) c.3434T= (p.Val1145=) c.*3264T= (n.*3264T=) c.3014T= (p.Val1005=) c.188T= (p.Val63=) c.1031T= (p.Val344=) c.22T= c.1090T= c.2222T= (p.Val741=) c.3350T= (p.Val1117=) c.265T= c.3530T= (p.Val1177=) c.3197T= (p.Val1066=) | |
7 | g.117614686A= | CA1737392215 | CFTR | c.3441A= (p.Val1147=) c.*3155A= (n.*3155A=) c.3258A= (p.Val1086=) c.*1816A= (n.*1816A=) c.3435A= (p.Val1145=) c.*3265A= (n.*3265A=) c.3015A= (p.Val1005=) c.189A= (p.Val63=) c.1032A= (p.Val344=) c.23A= c.1091A= c.2223A= (p.Val741=) c.3351A= (p.Val1117=) c.266A= c.3531A= (p.Val1177=) c.3198A= (p.Val1066=) | |
7 | g.117614686A>C | CA457230197 | CFTR | c.3441A>C (p.Val1147=) c.*3155A>C (n.*3155A>C) c.3258A>C (p.Val1086=) c.*1816A>C (n.*1816A>C) c.3435A>C (p.Val1145=) c.*3265A>C (n.*3265A>C) c.3015A>C (p.Val1005=) c.189A>C (p.Val63=) c.1032A>C (p.Val344=) c.23A>C c.1091A>C c.2223A>C (p.Val741=) c.3351A>C (p.Val1117=) c.266A>C c.3531A>C (p.Val1177=) c.3198A>C (p.Val1066=) | |
7 | g.117614686A>G | CA164968901 | CFTR | c.3441A>G (p.Val1147=) c.*3155A>G (n.*3155A>G) c.3258A>G (p.Val1086=) c.*1816A>G (n.*1816A>G) c.3435A>G (p.Val1145=) c.*3265A>G (n.*3265A>G) c.3015A>G (p.Val1005=) c.189A>G (p.Val63=) c.1032A>G (p.Val344=) c.23A>G c.1091A>G c.2223A>G (p.Val741=) c.3351A>G (p.Val1117=) c.266A>G c.3531A>G (p.Val1177=) c.3198A>G (p.Val1066=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614686A>T | CA457230198 | CFTR | c.3441A>T (p.Val1147=) c.*3155A>T (n.*3155A>T) c.3258A>T (p.Val1086=) c.*1816A>T (n.*1816A>T) c.3435A>T (p.Val1145=) c.*3265A>T (n.*3265A>T) c.3015A>T (p.Val1005=) c.189A>T (p.Val63=) c.1032A>T (p.Val344=) c.23A>T c.1091A>T c.2223A>T (p.Val741=) c.3351A>T (p.Val1117=) c.266A>T c.3531A>T (p.Val1177=) c.3198A>T (p.Val1066=) | |
7 | g.117614687A>C | CA368993631 | CFTR | c.3442A>C (p.Asn1148His) c.*3156A>C (n.*3156A>C) c.3259A>C (p.Asn1087His) c.*1817A>C (n.*1817A>C) c.3436A>C (p.Asn1146His) c.*3266A>C (n.*3266A>C) c.3016A>C (p.Asn1006His) c.190A>C (p.Asn64His) c.1033A>C (p.Asn345His) c.24A>C c.1092A>C c.2224A>C (p.Asn742His) c.3352A>C (p.Asn1118His) c.267A>C c.3532A>C (p.Asn1178His) c.3199A>C (p.Asn1067His) | |
7 | g.117614687A>G | CA368993634 | CFTR | c.3442A>G (p.Asn1148Asp) c.*3156A>G (n.*3156A>G) c.3259A>G (p.Asn1087Asp) c.*1817A>G (n.*1817A>G) c.3436A>G (p.Asn1146Asp) c.*3266A>G (n.*3266A>G) c.3016A>G (p.Asn1006Asp) c.190A>G (p.Asn64Asp) c.1033A>G (p.Asn345Asp) c.24A>G c.1092A>G c.2224A>G (p.Asn742Asp) c.3352A>G (p.Asn1118Asp) c.267A>G c.3532A>G (p.Asn1178Asp) c.3199A>G (p.Asn1067Asp) | |
7 | g.117614687A>T | CA368993636 | CFTR | c.3442A>T (p.Asn1148Tyr) c.*3156A>T (n.*3156A>T) c.3259A>T (p.Asn1087Tyr) c.*1817A>T (n.*1817A>T) c.3436A>T (p.Asn1146Tyr) c.*3266A>T (n.*3266A>T) c.3016A>T (p.Asn1006Tyr) c.190A>T (p.Asn64Tyr) c.1033A>T (p.Asn345Tyr) c.24A>T c.1092A>T c.2224A>T (p.Asn742Tyr) c.3352A>T (p.Asn1118Tyr) c.267A>T c.3532A>T (p.Asn1178Tyr) c.3199A>T (p.Asn1067Tyr) | |
7 | g.117614688A= | CA1737392222 | CFTR | c.3443A= (p.Asn1148=) c.*3157A= (n.*3157A=) c.3260A= (p.Asn1087=) c.*1818A= (n.*1818A=) c.3437A= (p.Asn1146=) c.*3267A= (n.*3267A=) c.3017A= (p.Asn1006=) c.191A= (p.Asn64=) c.1034A= (p.Asn345=) c.25A= c.1093A= c.2225A= (p.Asn742=) c.3353A= (p.Asn1118=) c.268A= c.3533A= (p.Asn1178=) c.3200A= (p.Asn1067=) | |
7 | g.117614688A>C | CA368993638 | CFTR | c.3443A>C (p.Asn1148Thr) c.*3157A>C (n.*3157A>C) c.3260A>C (p.Asn1087Thr) c.*1818A>C (n.*1818A>C) c.3437A>C (p.Asn1146Thr) c.*3267A>C (n.*3267A>C) c.3017A>C (p.Asn1006Thr) c.191A>C (p.Asn64Thr) c.1034A>C (p.Asn345Thr) c.25A>C c.1093A>C c.2225A>C (p.Asn742Thr) c.3353A>C (p.Asn1118Thr) c.268A>C c.3533A>C (p.Asn1178Thr) c.3200A>C (p.Asn1067Thr) | |
7 | g.117614688A>G | CA327189 | CFTR | c.3443A>G (p.Asn1148Ser) c.*3157A>G (n.*3157A>G) c.3260A>G (p.Asn1087Ser) c.*1818A>G (n.*1818A>G) c.3437A>G (p.Asn1146Ser) c.*3267A>G (n.*3267A>G) c.3017A>G (p.Asn1006Ser) c.191A>G (p.Asn64Ser) c.1034A>G (p.Asn345Ser) c.25A>G c.1093A>G c.2225A>G (p.Asn742Ser) c.3353A>G (p.Asn1118Ser) c.268A>G c.3533A>G (p.Asn1178Ser) c.3200A>G (p.Asn1067Ser) | dbSNP |
7 | g.117614688A>T | CA368993641 | CFTR | c.3443A>T (p.Asn1148Ile) c.*3157A>T (n.*3157A>T) c.3260A>T (p.Asn1087Ile) c.*1818A>T (n.*1818A>T) c.3437A>T (p.Asn1146Ile) c.*3267A>T (n.*3267A>T) c.3017A>T (p.Asn1006Ile) c.191A>T (p.Asn64Ile) c.1034A>T (p.Asn345Ile) c.25A>T c.1093A>T c.2225A>T (p.Asn742Ile) c.3353A>T (p.Asn1118Ile) c.268A>T c.3533A>T (p.Asn1178Ile) c.3200A>T (p.Asn1067Ile) | |
7 | g.117614689del | CA2695199621 | CFTR | c.3444del (p.Ser1149ProfsTer3) c.*3158del (n.*3158del) c.3261del (p.Ser1088ProfsTer3) c.*1819del (n.*1819del) c.3438del (p.Ser1147ProfsTer3) c.*3268del (n.*3268del) c.3018del (p.Ser1007ProfsTer3) c.192del (p.Ser65ProfsTer3) c.1035del (p.Ser346ProfsTer3) c.26del c.1094del c.2226del (p.Ser743ProfsTer3) c.3354del (p.Ser1119ProfsTer3) c.269del c.3534del (p.Ser1179ProfsTer3) c.3201del (p.Ser1068ProfsTer3) | ClinVar |
7 | g.117614689C>A | CA327191 | CFTR | c.3444C>A (p.Asn1148Lys) c.*3158C>A (n.*3158C>A) c.3261C>A (p.Asn1087Lys) c.*1819C>A (n.*1819C>A) c.3438C>A (p.Asn1146Lys) c.*3268C>A (n.*3268C>A) c.3018C>A (p.Asn1006Lys) c.192C>A (p.Asn64Lys) c.1035C>A (p.Asn345Lys) c.26C>A c.1094C>A c.2226C>A (p.Asn742Lys) c.3354C>A (p.Asn1118Lys) c.269C>A c.3534C>A (p.Asn1178Lys) c.3201C>A (p.Asn1067Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117614689C= | CA1737392226 | CFTR | c.3444C= (p.Asn1148=) c.*3158C= (n.*3158C=) c.3261C= (p.Asn1087=) c.*1819C= (n.*1819C=) c.3438C= (p.Asn1146=) c.*3268C= (n.*3268C=) c.3018C= (p.Asn1006=) c.192C= (p.Asn64=) c.1035C= (p.Asn345=) c.26C= c.1094C= c.2226C= (p.Asn742=) c.3354C= (p.Asn1118=) c.269C= c.3534C= (p.Asn1178=) c.3201C= (p.Asn1067=) | |
7 | g.117614689C>G | CA368993643 | CFTR | c.3444C>G (p.Asn1148Lys) c.*3158C>G (n.*3158C>G) c.3261C>G (p.Asn1087Lys) c.*1819C>G (n.*1819C>G) c.3438C>G (p.Asn1146Lys) c.*3268C>G (n.*3268C>G) c.3018C>G (p.Asn1006Lys) c.192C>G (p.Asn64Lys) c.1035C>G (p.Asn345Lys) c.26C>G c.1094C>G c.2226C>G (p.Asn742Lys) c.3354C>G (p.Asn1118Lys) c.269C>G c.3534C>G (p.Asn1178Lys) c.3201C>G (p.Asn1067Lys) | |
7 | g.117614689C>T | CA457230199 | CFTR | c.3444C>T (p.Asn1148=) c.*3158C>T (n.*3158C>T) c.3261C>T (p.Asn1087=) c.*1819C>T (n.*1819C>T) c.3438C>T (p.Asn1146=) c.*3268C>T (n.*3268C>T) c.3018C>T (p.Asn1006=) c.192C>T (p.Asn64=) c.1035C>T (p.Asn345=) c.26C>T c.1094C>T c.2226C>T (p.Asn742=) c.3354C>T (p.Asn1118=) c.269C>T c.3534C>T (p.Asn1178=) c.3201C>T (p.Asn1067=) | |
7 | g.117614689_117614690delinsCT | CA1737392228 | CFTR | c.3444_3445delinsCT (p.Asn1148=) c.*3158_*3159delinsCT (n.*3158_*3159delinsCT) c.3261_3262delinsCT (p.Asn1087=) c.*1819_*1820delinsCT (n.*1819_*1820delinsCT) c.3438_3439delinsCT (p.Asn1146=) c.*3268_*3269delinsCT (n.*3268_*3269delinsCT) c.3018_3019delinsCT (p.Asn1006=) c.192_193delinsCT (p.Asn64=) c.1035_1036delinsCT (p.Asn345=) c.26_27delinsCT c.1094_1095delinsCT c.2226_2227delinsCT (p.Asn742=) c.3354_3355delinsCT (p.Asn1118=) c.269_270delinsCT c.3534_3535delinsCT (p.Asn1178=) c.3201_3202delinsCT (p.Asn1067=) | |
7 | g.117614690del | CA327193 | CFTR | c.3445del (p.Ser1149ProfsTer3) c.*3159del (n.*3159del) c.3262del (p.Ser1088ProfsTer3) c.*1820del (n.*1820del) c.3439del (p.Ser1147ProfsTer3) c.*3269del (n.*3269del) c.3019del (p.Ser1007ProfsTer3) c.193del (p.Ser65ProfsTer3) c.1036del (p.Ser346ProfsTer3) c.27del c.1095del c.2227del (p.Ser743ProfsTer3) c.3355del (p.Ser1119ProfsTer3) c.270del c.3535del (p.Ser1179ProfsTer3) c.3202del (p.Ser1068ProfsTer3) | dbSNP |
7 | g.117614690T>A | CA368993647 | CFTR | c.3445T>A (p.Ser1149Thr) c.*3159T>A (n.*3159T>A) c.3262T>A (p.Ser1088Thr) c.*1820T>A (n.*1820T>A) c.3439T>A (p.Ser1147Thr) c.*3269T>A (n.*3269T>A) c.3019T>A (p.Ser1007Thr) c.193T>A (p.Ser65Thr) c.1036T>A (p.Ser346Thr) c.27T>A c.1095T>A c.2227T>A (p.Ser743Thr) c.3355T>A (p.Ser1119Thr) c.270T>A c.3535T>A (p.Ser1179Thr) c.3202T>A (p.Ser1068Thr) | |
7 | g.117614690T>C | CA4451461 | CFTR | c.3445T>C (p.Ser1149Pro) c.*3159T>C (n.*3159T>C) c.3262T>C (p.Ser1088Pro) c.*1820T>C (n.*1820T>C) c.3439T>C (p.Ser1147Pro) c.*3269T>C (n.*3269T>C) c.3019T>C (p.Ser1007Pro) c.193T>C (p.Ser65Pro) c.1036T>C (p.Ser346Pro) c.27T>C c.1095T>C c.2227T>C (p.Ser743Pro) c.3355T>C (p.Ser1119Pro) c.270T>C c.3535T>C (p.Ser1179Pro) c.3202T>C (p.Ser1068Pro) | dbSNP ExAC gnomAD v2 |
7 | g.117614690T>G | CA368993650 | CFTR | c.3445T>G (p.Ser1149Ala) c.*3159T>G (n.*3159T>G) c.3262T>G (p.Ser1088Ala) c.*1820T>G (n.*1820T>G) c.3439T>G (p.Ser1147Ala) c.*3269T>G (n.*3269T>G) c.3019T>G (p.Ser1007Ala) c.193T>G (p.Ser65Ala) c.1036T>G (p.Ser346Ala) c.27T>G c.1095T>G c.2227T>G (p.Ser743Ala) c.3355T>G (p.Ser1119Ala) c.270T>G c.3535T>G (p.Ser1179Ala) c.3202T>G (p.Ser1068Ala) | |
7 | g.117614690T= | CA1737392234 | CFTR | c.3445T= (p.Ser1149=) c.*3159T= (n.*3159T=) c.3262T= (p.Ser1088=) c.*1820T= (n.*1820T=) c.3439T= (p.Ser1147=) c.*3269T= (n.*3269T=) c.3019T= (p.Ser1007=) c.193T= (p.Ser65=) c.1036T= (p.Ser346=) c.27T= c.1095T= c.2227T= (p.Ser743=) c.3355T= (p.Ser1119=) c.270T= c.3535T= (p.Ser1179=) c.3202T= (p.Ser1068=) | |
7 | g.117614691C>A | CA368993654 | CFTR | c.3446C>A (p.Ser1149Tyr) c.*3160C>A (n.*3160C>A) c.3263C>A (p.Ser1088Tyr) c.*1821C>A (n.*1821C>A) c.3440C>A (p.Ser1147Tyr) c.*3270C>A (n.*3270C>A) c.3020C>A (p.Ser1007Tyr) c.194C>A (p.Ser65Tyr) c.1037C>A (p.Ser346Tyr) c.28C>A c.1096C>A c.2228C>A (p.Ser743Tyr) c.3356C>A (p.Ser1119Tyr) c.271C>A c.3536C>A (p.Ser1179Tyr) c.3203C>A (p.Ser1068Tyr) | |
7 | g.117614691C= | CA1737392237 | CFTR | c.3446C= (p.Ser1149=) c.*3160C= (n.*3160C=) c.3263C= (p.Ser1088=) c.*1821C= (n.*1821C=) c.3440C= (p.Ser1147=) c.*3270C= (n.*3270C=) c.3020C= (p.Ser1007=) c.194C= (p.Ser65=) c.1037C= (p.Ser346=) c.28C= c.1096C= c.2228C= (p.Ser743=) c.3356C= (p.Ser1119=) c.271C= c.3536C= (p.Ser1179=) c.3203C= (p.Ser1068=) | |
7 | g.117614691C>G | CA368993655 | CFTR | c.3446C>G (p.Ser1149Cys) c.*3160C>G (n.*3160C>G) c.3263C>G (p.Ser1088Cys) c.*1821C>G (n.*1821C>G) c.3440C>G (p.Ser1147Cys) c.*3270C>G (n.*3270C>G) c.3020C>G (p.Ser1007Cys) c.194C>G (p.Ser65Cys) c.1037C>G (p.Ser346Cys) c.28C>G c.1096C>G c.2228C>G (p.Ser743Cys) c.3356C>G (p.Ser1119Cys) c.271C>G c.3536C>G (p.Ser1179Cys) c.3203C>G (p.Ser1068Cys) | dbSNP |
7 | g.117614691C>T | CA368993657 | CFTR | c.3446C>T (p.Ser1149Phe) c.*3160C>T (n.*3160C>T) c.3263C>T (p.Ser1088Phe) c.*1821C>T (n.*1821C>T) c.3440C>T (p.Ser1147Phe) c.*3270C>T (n.*3270C>T) c.3020C>T (p.Ser1007Phe) c.194C>T (p.Ser65Phe) c.1037C>T (p.Ser346Phe) c.28C>T c.1096C>T c.2228C>T (p.Ser743Phe) c.3356C>T (p.Ser1119Phe) c.271C>T c.3536C>T (p.Ser1179Phe) c.3203C>T (p.Ser1068Phe) | |
7 | g.117614692C>A | CA457230201 | CFTR | c.3447C>A (p.Ser1149=) c.*3161C>A (n.*3161C>A) c.3264C>A (p.Ser1088=) c.*1822C>A (n.*1822C>A) c.3441C>A (p.Ser1147=) c.*3271C>A (n.*3271C>A) c.3021C>A (p.Ser1007=) c.195C>A (p.Ser65=) c.1038C>A (p.Ser346=) c.29C>A c.1097C>A c.2229C>A (p.Ser743=) c.3357C>A (p.Ser1119=) c.272C>A c.3537C>A (p.Ser1179=) c.3204C>A (p.Ser1068=) | ClinVar COSMIC |
7 | g.117614692C>G | CA457230202 | CFTR | c.3447C>G (p.Ser1149=) c.*3161C>G (n.*3161C>G) c.3264C>G (p.Ser1088=) c.*1822C>G (n.*1822C>G) c.3441C>G (p.Ser1147=) c.*3271C>G (n.*3271C>G) c.3021C>G (p.Ser1007=) c.195C>G (p.Ser65=) c.1038C>G (p.Ser346=) c.29C>G c.1097C>G c.2229C>G (p.Ser743=) c.3357C>G (p.Ser1119=) c.272C>G c.3537C>G (p.Ser1179=) c.3204C>G (p.Ser1068=) | |
7 | g.117614692C>T | CA457230203 | CFTR | c.3447C>T (p.Ser1149=) c.*3161C>T (n.*3161C>T) c.3264C>T (p.Ser1088=) c.*1822C>T (n.*1822C>T) c.3441C>T (p.Ser1147=) c.*3271C>T (n.*3271C>T) c.3021C>T (p.Ser1007=) c.195C>T (p.Ser65=) c.1038C>T (p.Ser346=) c.29C>T c.1097C>T c.2229C>T (p.Ser743=) c.3357C>T (p.Ser1119=) c.272C>T c.3537C>T (p.Ser1179=) c.3204C>T (p.Ser1068=) | |
7 | g.117614693A>C | CA368993664 | CFTR | c.3448A>C (p.Ser1150Arg) c.*3162A>C (n.*3162A>C) c.3265A>C (p.Ser1089Arg) c.*1823A>C (n.*1823A>C) c.3442A>C (p.Ser1148Arg) c.*3272A>C (n.*3272A>C) c.3022A>C (p.Ser1008Arg) c.196A>C (p.Ser66Arg) c.1039A>C (p.Ser347Arg) c.30A>C c.1098A>C c.2230A>C (p.Ser744Arg) c.3358A>C (p.Ser1120Arg) c.273A>C c.3538A>C (p.Ser1180Arg) c.3205A>C (p.Ser1069Arg) | |
7 | g.117614693A>G | CA368993660 | CFTR | c.3448A>G (p.Ser1150Gly) c.*3162A>G (n.*3162A>G) c.3265A>G (p.Ser1089Gly) c.*1823A>G (n.*1823A>G) c.3442A>G (p.Ser1148Gly) c.*3272A>G (n.*3272A>G) c.3022A>G (p.Ser1008Gly) c.196A>G (p.Ser66Gly) c.1039A>G (p.Ser347Gly) c.30A>G c.1098A>G c.2230A>G (p.Ser744Gly) c.3358A>G (p.Ser1120Gly) c.273A>G c.3538A>G (p.Ser1180Gly) c.3205A>G (p.Ser1069Gly) | |
7 | g.117614693A>T | CA368993662 | CFTR | c.3448A>T (p.Ser1150Cys) c.*3162A>T (n.*3162A>T) c.3265A>T (p.Ser1089Cys) c.*1823A>T (n.*1823A>T) c.3442A>T (p.Ser1148Cys) c.*3272A>T (n.*3272A>T) c.3022A>T (p.Ser1008Cys) c.196A>T (p.Ser66Cys) c.1039A>T (p.Ser347Cys) c.30A>T c.1098A>T c.2230A>T (p.Ser744Cys) c.3358A>T (p.Ser1120Cys) c.273A>T c.3538A>T (p.Ser1180Cys) c.3205A>T (p.Ser1069Cys) | |
7 | g.117614694G>A | CA368993667 | CFTR | c.3449G>A (p.Ser1150Asn) c.*3163G>A (n.*3163G>A) c.3266G>A (p.Ser1089Asn) c.*1824G>A (n.*1824G>A) c.3443G>A (p.Ser1148Asn) c.*3273G>A (n.*3273G>A) c.3023G>A (p.Ser1008Asn) c.197G>A (p.Ser66Asn) c.1040G>A (p.Ser347Asn) c.31G>A c.1099G>A c.2231G>A (p.Ser744Asn) c.3359G>A (p.Ser1120Asn) c.274G>A c.3539G>A (p.Ser1180Asn) c.3206G>A (p.Ser1069Asn) | gnomAD v4 |
7 | g.117614694G>C | CA368993669 | CFTR | c.3449G>C (p.Ser1150Thr) c.*3163G>C (n.*3163G>C) c.3266G>C (p.Ser1089Thr) c.*1824G>C (n.*1824G>C) c.3443G>C (p.Ser1148Thr) c.*3273G>C (n.*3273G>C) c.3023G>C (p.Ser1008Thr) c.197G>C (p.Ser66Thr) c.1040G>C (p.Ser347Thr) c.31G>C c.1099G>C c.2231G>C (p.Ser744Thr) c.3359G>C (p.Ser1120Thr) c.274G>C c.3539G>C (p.Ser1180Thr) c.3206G>C (p.Ser1069Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.117614694G= | CA1737392240 | CFTR | c.3449G= (p.Ser1150=) c.*3163G= (n.*3163G=) c.3266G= (p.Ser1089=) c.*1824G= (n.*1824G=) c.3443G= (p.Ser1148=) c.*3273G= (n.*3273G=) c.3023G= (p.Ser1008=) c.197G= (p.Ser66=) c.1040G= (p.Ser347=) c.31G= c.1099G= c.2231G= (p.Ser744=) c.3359G= (p.Ser1120=) c.274G= c.3539G= (p.Ser1180=) c.3206G= (p.Ser1069=) | |
7 | g.117614694G>T | CA368993671 | CFTR | c.3449G>T (p.Ser1150Ile) c.*3163G>T (n.*3163G>T) c.3266G>T (p.Ser1089Ile) c.*1824G>T (n.*1824G>T) c.3443G>T (p.Ser1148Ile) c.*3273G>T (n.*3273G>T) c.3023G>T (p.Ser1008Ile) c.197G>T (p.Ser66Ile) c.1040G>T (p.Ser347Ile) c.31G>T c.1099G>T c.2231G>T (p.Ser744Ile) c.3359G>T (p.Ser1120Ile) c.274G>T c.3539G>T (p.Ser1180Ile) c.3206G>T (p.Ser1069Ile) | |
7 | g.117614695C>A | CA368993673 | CFTR | c.3450C>A (p.Ser1150Arg) c.*3164C>A (n.*3164C>A) c.3267C>A (p.Ser1089Arg) c.*1825C>A (n.*1825C>A) c.3444C>A (p.Ser1148Arg) c.*3274C>A (n.*3274C>A) c.3024C>A (p.Ser1008Arg) c.198C>A (p.Ser66Arg) c.1041C>A (p.Ser347Arg) c.32C>A c.1100C>A c.2232C>A (p.Ser744Arg) c.3360C>A (p.Ser1120Arg) c.275C>A c.3540C>A (p.Ser1180Arg) c.3207C>A (p.Ser1069Arg) | dbSNP gnomAD v4 |
7 | g.117614695C= | CA1737392243 | CFTR | c.3450C= (p.Ser1150=) c.*3164C= (n.*3164C=) c.3267C= (p.Ser1089=) c.*1825C= (n.*1825C=) c.3444C= (p.Ser1148=) c.*3274C= (n.*3274C=) c.3024C= (p.Ser1008=) c.198C= (p.Ser66=) c.1041C= (p.Ser347=) c.32C= c.1100C= c.2232C= (p.Ser744=) c.3360C= (p.Ser1120=) c.275C= c.3540C= (p.Ser1180=) c.3207C= (p.Ser1069=) | |
7 | g.117614695C>G | CA368993675 | CFTR | c.3450C>G (p.Ser1150Arg) c.*3164C>G (n.*3164C>G) c.3267C>G (p.Ser1089Arg) c.*1825C>G (n.*1825C>G) c.3444C>G (p.Ser1148Arg) c.*3274C>G (n.*3274C>G) c.3024C>G (p.Ser1008Arg) c.198C>G (p.Ser66Arg) c.1041C>G (p.Ser347Arg) c.32C>G c.1100C>G c.2232C>G (p.Ser744Arg) c.3360C>G (p.Ser1120Arg) c.275C>G c.3540C>G (p.Ser1180Arg) c.3207C>G (p.Ser1069Arg) | |
7 | g.117614695C>T | CA457230204 | CFTR | c.3450C>T (p.Ser1150=) c.*3164C>T (n.*3164C>T) c.3267C>T (p.Ser1089=) c.*1825C>T (n.*1825C>T) c.3444C>T (p.Ser1148=) c.*3274C>T (n.*3274C>T) c.3024C>T (p.Ser1008=) c.198C>T (p.Ser66=) c.1041C>T (p.Ser347=) c.32C>T c.1100C>T c.2232C>T (p.Ser744=) c.3360C>T (p.Ser1120=) c.275C>T c.3540C>T (p.Ser1180=) c.3207C>T (p.Ser1069=) | gnomAD v4 |
7 | g.117614696A= | CA1737392244 | CFTR | c.3451A= (p.Ile1151=) c.*3165A= (n.*3165A=) c.3268A= (p.Ile1090=) c.*1826A= (n.*1826A=) c.3445A= (p.Ile1149=) c.*3275A= (n.*3275A=) c.3025A= (p.Ile1009=) c.199A= (p.Ile67=) c.1042A= (p.Ile348=) c.33A= c.1101A= c.2233A= (p.Ile745=) c.3361A= (p.Ile1121=) c.276A= c.3541A= (p.Ile1181=) c.3208A= (p.Ile1070=) | |
7 | g.117614696A>C | CA368993677 | CFTR | c.3451A>C (p.Ile1151Leu) c.*3165A>C (n.*3165A>C) c.3268A>C (p.Ile1090Leu) c.*1826A>C (n.*1826A>C) c.3445A>C (p.Ile1149Leu) c.*3275A>C (n.*3275A>C) c.3025A>C (p.Ile1009Leu) c.199A>C (p.Ile67Leu) c.1042A>C (p.Ile348Leu) c.33A>C c.1101A>C c.2233A>C (p.Ile745Leu) c.3361A>C (p.Ile1121Leu) c.276A>C c.3541A>C (p.Ile1181Leu) c.3208A>C (p.Ile1070Leu) | |
7 | g.117614696A>G | CA368993682 | CFTR | c.3451A>G (p.Ile1151Val) c.*3165A>G (n.*3165A>G) c.3268A>G (p.Ile1090Val) c.*1826A>G (n.*1826A>G) c.3445A>G (p.Ile1149Val) c.*3275A>G (n.*3275A>G) c.3025A>G (p.Ile1009Val) c.199A>G (p.Ile67Val) c.1042A>G (p.Ile348Val) c.33A>G c.1101A>G c.2233A>G (p.Ile745Val) c.3361A>G (p.Ile1121Val) c.276A>G c.3541A>G (p.Ile1181Val) c.3208A>G (p.Ile1070Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614696A>T | CA368993680 | CFTR | c.3451A>T (p.Ile1151Leu) c.*3165A>T (n.*3165A>T) c.3268A>T (p.Ile1090Leu) c.*1826A>T (n.*1826A>T) c.3445A>T (p.Ile1149Leu) c.*3275A>T (n.*3275A>T) c.3025A>T (p.Ile1009Leu) c.199A>T (p.Ile67Leu) c.1042A>T (p.Ile348Leu) c.33A>T c.1101A>T c.2233A>T (p.Ile745Leu) c.3361A>T (p.Ile1121Leu) c.276A>T c.3541A>T (p.Ile1181Leu) c.3208A>T (p.Ile1070Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614697T>A | CA368993684 | CFTR | c.3452T>A (p.Ile1151Lys) c.*3166T>A (n.*3166T>A) c.3269T>A (p.Ile1090Lys) c.*1827T>A (n.*1827T>A) c.3446T>A (p.Ile1149Lys) c.*3276T>A (n.*3276T>A) c.3026T>A (p.Ile1009Lys) c.200T>A (p.Ile67Lys) c.1043T>A (p.Ile348Lys) c.34T>A c.1102T>A c.2234T>A (p.Ile745Lys) c.3362T>A (p.Ile1121Lys) c.277T>A c.3542T>A (p.Ile1181Lys) c.3209T>A (p.Ile1070Lys) | ClinVar dbSNP |
7 | g.117614697T>C | CA368993687 | CFTR | c.3452T>C (p.Ile1151Thr) c.*3166T>C (n.*3166T>C) c.3269T>C (p.Ile1090Thr) c.*1827T>C (n.*1827T>C) c.3446T>C (p.Ile1149Thr) c.*3276T>C (n.*3276T>C) c.3026T>C (p.Ile1009Thr) c.200T>C (p.Ile67Thr) c.1043T>C (p.Ile348Thr) c.34T>C c.1102T>C c.2234T>C (p.Ile745Thr) c.3362T>C (p.Ile1121Thr) c.277T>C c.3542T>C (p.Ile1181Thr) c.3209T>C (p.Ile1070Thr) | |
7 | g.117614697T>G | CA368993689 | CFTR | c.3452T>G (p.Ile1151Arg) c.*3166T>G (n.*3166T>G) c.3269T>G (p.Ile1090Arg) c.*1827T>G (n.*1827T>G) c.3446T>G (p.Ile1149Arg) c.*3276T>G (n.*3276T>G) c.3026T>G (p.Ile1009Arg) c.200T>G (p.Ile67Arg) c.1043T>G (p.Ile348Arg) c.34T>G c.1102T>G c.2234T>G (p.Ile745Arg) c.3362T>G (p.Ile1121Arg) c.277T>G c.3542T>G (p.Ile1181Arg) c.3209T>G (p.Ile1070Arg) | |
7 | g.117614697T= | CA1737392247 | CFTR | c.3452T= (p.Ile1151=) c.*3166T= (n.*3166T=) c.3269T= (p.Ile1090=) c.*1827T= (n.*1827T=) c.3446T= (p.Ile1149=) c.*3276T= (n.*3276T=) c.3026T= (p.Ile1009=) c.200T= (p.Ile67=) c.1043T= (p.Ile348=) c.34T= c.1102T= c.2234T= (p.Ile745=) c.3362T= (p.Ile1121=) c.277T= c.3542T= (p.Ile1181=) c.3209T= (p.Ile1070=) | |
7 | g.117614698A>C | CA457230206 | CFTR | c.3453A>C (p.Ile1151=) c.*3167A>C (n.*3167A>C) c.3270A>C (p.Ile1090=) c.*1828A>C (n.*1828A>C) c.3447A>C (p.Ile1149=) c.*3277A>C (n.*3277A>C) c.3027A>C (p.Ile1009=) c.201A>C (p.Ile67=) c.1044A>C (p.Ile348=) c.35A>C c.1103A>C c.2235A>C (p.Ile745=) c.3363A>C (p.Ile1121=) c.278A>C c.3543A>C (p.Ile1181=) c.3210A>C (p.Ile1070=) | |
7 | g.117614698A>G | CA368993691 | CFTR | c.3453A>G (p.Ile1151Met) c.*3167A>G (n.*3167A>G) c.3270A>G (p.Ile1090Met) c.*1828A>G (n.*1828A>G) c.3447A>G (p.Ile1149Met) c.*3277A>G (n.*3277A>G) c.3027A>G (p.Ile1009Met) c.201A>G (p.Ile67Met) c.1044A>G (p.Ile348Met) c.35A>G c.1103A>G c.2235A>G (p.Ile745Met) c.3363A>G (p.Ile1121Met) c.278A>G c.3543A>G (p.Ile1181Met) c.3210A>G (p.Ile1070Met) | |
7 | g.117614698A>T | CA457230205 | CFTR | c.3453A>T (p.Ile1151=) c.*3167A>T (n.*3167A>T) c.3270A>T (p.Ile1090=) c.*1828A>T (n.*1828A>T) c.3447A>T (p.Ile1149=) c.*3277A>T (n.*3277A>T) c.3027A>T (p.Ile1009=) c.201A>T (p.Ile67=) c.1044A>T (p.Ile348=) c.35A>T c.1103A>T c.2235A>T (p.Ile745=) c.3363A>T (p.Ile1121=) c.278A>T c.3543A>T (p.Ile1181=) c.3210A>T (p.Ile1070=) | |
7 | g.117614699G>A | CA368993694 | CFTR | c.3454G>A (p.Asp1152Asn) c.*3168G>A (n.*3168G>A) c.3271G>A (p.Asp1091Asn) c.*1829G>A (n.*1829G>A) c.3448G>A (p.Asp1150Asn) c.*3278G>A (n.*3278G>A) c.3028G>A (p.Asp1010Asn) c.202G>A (p.Asp68Asn) c.1045G>A (p.Asp349Asn) c.36G>A c.1104G>A c.2236G>A (p.Asp746Asn) c.3364G>A (p.Asp1122Asn) c.279G>A c.3544G>A (p.Asp1182Asn) c.3211G>A (p.Asp1071Asn) | |
7 | g.117614699G>C | CA201825 | CFTR | c.3454G>C (p.Asp1152His) c.*3168G>C (n.*3168G>C) c.3271G>C (p.Asp1091His) c.*1829G>C (n.*1829G>C) c.3448G>C (p.Asp1150His) c.*3278G>C (n.*3278G>C) c.3028G>C (p.Asp1010His) c.202G>C (p.Asp68His) c.1045G>C (p.Asp349His) c.36G>C c.1104G>C c.2236G>C (p.Asp746His) c.3364G>C (p.Asp1122His) c.279G>C c.3544G>C (p.Asp1182His) c.3211G>C (p.Asp1071His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117614699G= | CA1737392248 | CFTR | c.3454G= (p.Asp1152=) c.*3168G= (n.*3168G=) c.3271G= (p.Asp1091=) c.*1829G= (n.*1829G=) c.3448G= (p.Asp1150=) c.*3278G= (n.*3278G=) c.3028G= (p.Asp1010=) c.202G= (p.Asp68=) c.1045G= (p.Asp349=) c.36G= c.1104G= c.2236G= (p.Asp746=) c.3364G= (p.Asp1122=) c.279G= c.3544G= (p.Asp1182=) c.3211G= (p.Asp1071=) | |
7 | g.117614699G>T | CA368993696 | CFTR | c.3454G>T (p.Asp1152Tyr) c.*3168G>T (n.*3168G>T) c.3271G>T (p.Asp1091Tyr) c.*1829G>T (n.*1829G>T) c.3448G>T (p.Asp1150Tyr) c.*3278G>T (n.*3278G>T) c.3028G>T (p.Asp1010Tyr) c.202G>T (p.Asp68Tyr) c.1045G>T (p.Asp349Tyr) c.36G>T c.1104G>T c.2236G>T (p.Asp746Tyr) c.3364G>T (p.Asp1122Tyr) c.279G>T c.3544G>T (p.Asp1182Tyr) c.3211G>T (p.Asp1071Tyr) | |
7 | g.117614700A>C | CA368993698 | CFTR | c.3455A>C (p.Asp1152Ala) c.*3169A>C (n.*3169A>C) c.3272A>C (p.Asp1091Ala) c.*1830A>C (n.*1830A>C) c.3449A>C (p.Asp1150Ala) c.*3279A>C (n.*3279A>C) c.3029A>C (p.Asp1010Ala) c.203A>C (p.Asp68Ala) c.1046A>C (p.Asp349Ala) c.37A>C c.1105A>C c.2237A>C (p.Asp746Ala) c.3365A>C (p.Asp1122Ala) c.280A>C c.3545A>C (p.Asp1182Ala) c.3212A>C (p.Asp1071Ala) | COSMIC |
7 | g.117614700A>G | CA368993700 | CFTR | c.3455A>G (p.Asp1152Gly) c.*3169A>G (n.*3169A>G) c.3272A>G (p.Asp1091Gly) c.*1830A>G (n.*1830A>G) c.3449A>G (p.Asp1150Gly) c.*3279A>G (n.*3279A>G) c.3029A>G (p.Asp1010Gly) c.203A>G (p.Asp68Gly) c.1046A>G (p.Asp349Gly) c.37A>G c.1105A>G c.2237A>G (p.Asp746Gly) c.3365A>G (p.Asp1122Gly) c.280A>G c.3545A>G (p.Asp1182Gly) c.3212A>G (p.Asp1071Gly) | gnomAD v4 COSMIC |
7 | g.117614700A>T | CA368993702 | CFTR | c.3455A>T (p.Asp1152Val) c.*3169A>T (n.*3169A>T) c.3272A>T (p.Asp1091Val) c.*1830A>T (n.*1830A>T) c.3449A>T (p.Asp1150Val) c.*3279A>T (n.*3279A>T) c.3029A>T (p.Asp1010Val) c.203A>T (p.Asp68Val) c.1046A>T (p.Asp349Val) c.37A>T c.1105A>T c.2237A>T (p.Asp746Val) c.3365A>T (p.Asp1122Val) c.280A>T c.3545A>T (p.Asp1182Val) c.3212A>T (p.Asp1071Val) | |
7 | g.117614701T>A | CA368993704 | CFTR | c.3456T>A (p.Asp1152Glu) c.*3170T>A (n.*3170T>A) c.3273T>A (p.Asp1091Glu) c.*1831T>A (n.*1831T>A) c.3450T>A (p.Asp1150Glu) c.*3280T>A (n.*3280T>A) c.3030T>A (p.Asp1010Glu) c.204T>A (p.Asp68Glu) c.1047T>A (p.Asp349Glu) c.38T>A c.1106T>A c.2238T>A (p.Asp746Glu) c.3366T>A (p.Asp1122Glu) c.281T>A c.3546T>A (p.Asp1182Glu) c.3213T>A (p.Asp1071Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117614701T>C | CA457230207 | CFTR | c.3456T>C (p.Asp1152=) c.*3170T>C (n.*3170T>C) c.3273T>C (p.Asp1091=) c.*1831T>C (n.*1831T>C) c.3450T>C (p.Asp1150=) c.*3280T>C (n.*3280T>C) c.3030T>C (p.Asp1010=) c.204T>C (p.Asp68=) c.1047T>C (p.Asp349=) c.38T>C c.1106T>C c.2238T>C (p.Asp746=) c.3366T>C (p.Asp1122=) c.281T>C c.3546T>C (p.Asp1182=) c.3213T>C (p.Asp1071=) | gnomAD v4 |
7 | g.117614701T>G | CA368993705 | CFTR | c.3456T>G (p.Asp1152Glu) c.*3170T>G (n.*3170T>G) c.3273T>G (p.Asp1091Glu) c.*1831T>G (n.*1831T>G) c.3450T>G (p.Asp1150Glu) c.*3280T>G (n.*3280T>G) c.3030T>G (p.Asp1010Glu) c.204T>G (p.Asp68Glu) c.1047T>G (p.Asp349Glu) c.38T>G c.1106T>G c.2238T>G (p.Asp746Glu) c.3366T>G (p.Asp1122Glu) c.281T>G c.3546T>G (p.Asp1182Glu) c.3213T>G (p.Asp1071Glu) | |
7 | g.117614701T= | CA1737392250 | CFTR | c.3456T= (p.Asp1152=) c.*3170T= (n.*3170T=) c.3273T= (p.Asp1091=) c.*1831T= (n.*1831T=) c.3450T= (p.Asp1150=) c.*3280T= (n.*3280T=) c.3030T= (p.Asp1010=) c.204T= (p.Asp68=) c.1047T= (p.Asp349=) c.38T= c.1106T= c.2238T= (p.Asp746=) c.3366T= (p.Asp1122=) c.281T= c.3546T= (p.Asp1182=) c.3213T= (p.Asp1071=) | |
7 | g.117614702G>A | CA164968930 | CFTR | c.3457G>A (p.Val1153Met) c.*3171G>A (n.*3171G>A) c.3274G>A (p.Val1092Met) c.*1832G>A (n.*1832G>A) c.3451G>A (p.Val1151Met) c.*3281G>A (n.*3281G>A) c.3031G>A (p.Val1011Met) c.205G>A (p.Val69Met) c.1048G>A (p.Val350Met) c.39G>A c.1107G>A c.2239G>A (p.Val747Met) c.3367G>A (p.Val1123Met) c.282G>A c.3547G>A (p.Val1183Met) c.3214G>A (p.Val1072Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614702G>C | CA368993711 | CFTR | c.3457G>C (p.Val1153Leu) c.*3171G>C (n.*3171G>C) c.3274G>C (p.Val1092Leu) c.*1832G>C (n.*1832G>C) c.3451G>C (p.Val1151Leu) c.*3281G>C (n.*3281G>C) c.3031G>C (p.Val1011Leu) c.205G>C (p.Val69Leu) c.1048G>C (p.Val350Leu) c.39G>C c.1107G>C c.2239G>C (p.Val747Leu) c.3367G>C (p.Val1123Leu) c.282G>C c.3547G>C (p.Val1183Leu) c.3214G>C (p.Val1072Leu) | ClinVar gnomAD v4 |
7 | g.117614702G= | CA1737392252 | CFTR | c.3457G= (p.Val1153=) c.*3171G= (n.*3171G=) c.3274G= (p.Val1092=) c.*1832G= (n.*1832G=) c.3451G= (p.Val1151=) c.*3281G= (n.*3281G=) c.3031G= (p.Val1011=) c.205G= (p.Val69=) c.1048G= (p.Val350=) c.39G= c.1107G= c.2239G= (p.Val747=) c.3367G= (p.Val1123=) c.282G= c.3547G= (p.Val1183=) c.3214G= (p.Val1072=) | |
7 | g.117614702G>T | CA368993709 | CFTR | c.3457G>T (p.Val1153Leu) c.*3171G>T (n.*3171G>T) c.3274G>T (p.Val1092Leu) c.*1832G>T (n.*1832G>T) c.3451G>T (p.Val1151Leu) c.*3281G>T (n.*3281G>T) c.3031G>T (p.Val1011Leu) c.205G>T (p.Val69Leu) c.1048G>T (p.Val350Leu) c.39G>T c.1107G>T c.2239G>T (p.Val747Leu) c.3367G>T (p.Val1123Leu) c.282G>T c.3547G>T (p.Val1183Leu) c.3214G>T (p.Val1072Leu) | |
7 | g.117614703T>A | CA327194 | CFTR | c.3458T>A (p.Val1153Glu) c.*3172T>A (n.*3172T>A) c.3275T>A (p.Val1092Glu) c.*1833T>A (n.*1833T>A) c.3452T>A (p.Val1151Glu) c.*3282T>A (n.*3282T>A) c.3032T>A (p.Val1011Glu) c.206T>A (p.Val69Glu) c.1049T>A (p.Val350Glu) c.40T>A c.1108T>A c.2240T>A (p.Val747Glu) c.3368T>A (p.Val1123Glu) c.283T>A c.3548T>A (p.Val1183Glu) c.3215T>A (p.Val1072Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614703T>C | CA368993715 | CFTR | c.3458T>C (p.Val1153Ala) c.*3172T>C (n.*3172T>C) c.3275T>C (p.Val1092Ala) c.*1833T>C (n.*1833T>C) c.3452T>C (p.Val1151Ala) c.*3282T>C (n.*3282T>C) c.3032T>C (p.Val1011Ala) c.206T>C (p.Val69Ala) c.1049T>C (p.Val350Ala) c.40T>C c.1108T>C c.2240T>C (p.Val747Ala) c.3368T>C (p.Val1123Ala) c.283T>C c.3548T>C (p.Val1183Ala) c.3215T>C (p.Val1072Ala) | |
7 | g.117614703T>G | CA368993716 | CFTR | c.3458T>G (p.Val1153Gly) c.*3172T>G (n.*3172T>G) c.3275T>G (p.Val1092Gly) c.*1833T>G (n.*1833T>G) c.3452T>G (p.Val1151Gly) c.*3282T>G (n.*3282T>G) c.3032T>G (p.Val1011Gly) c.206T>G (p.Val69Gly) c.1049T>G (p.Val350Gly) c.40T>G c.1108T>G c.2240T>G (p.Val747Gly) c.3368T>G (p.Val1123Gly) c.283T>G c.3548T>G (p.Val1183Gly) c.3215T>G (p.Val1072Gly) | |
7 | g.117614703T= | CA1737392253 | CFTR | c.3458T= (p.Val1153=) c.*3172T= (n.*3172T=) c.3275T= (p.Val1092=) c.*1833T= (n.*1833T=) c.3452T= (p.Val1151=) c.*3282T= (n.*3282T=) c.3032T= (p.Val1011=) c.206T= (p.Val69=) c.1049T= (p.Val350=) c.40T= c.1108T= c.2240T= (p.Val747=) c.3368T= (p.Val1123=) c.283T= c.3548T= (p.Val1183=) c.3215T= (p.Val1072=) | |
7 | g.117614704G>A | CA457230208 | CFTR | c.3459G>A (p.Val1153=) c.*3173G>A (n.*3173G>A) c.3276G>A (p.Val1092=) c.*1834G>A (n.*1834G>A) c.3453G>A (p.Val1151=) c.*3283G>A (n.*3283G>A) c.3033G>A (p.Val1011=) c.207G>A (p.Val69=) c.1050G>A (p.Val350=) c.41G>A c.1109G>A c.2241G>A (p.Val747=) c.3369G>A (p.Val1123=) c.284G>A c.3549G>A (p.Val1183=) c.3216G>A (p.Val1072=) | |
7 | g.117614704G>C | CA457230210 | CFTR | c.3459G>C (p.Val1153=) c.*3173G>C (n.*3173G>C) c.3276G>C (p.Val1092=) c.*1834G>C (n.*1834G>C) c.3453G>C (p.Val1151=) c.*3283G>C (n.*3283G>C) c.3033G>C (p.Val1011=) c.207G>C (p.Val69=) c.1050G>C (p.Val350=) c.41G>C c.1109G>C c.2241G>C (p.Val747=) c.3369G>C (p.Val1123=) c.284G>C c.3549G>C (p.Val1183=) c.3216G>C (p.Val1072=) | |
7 | g.117614704G>T | CA457230211 | CFTR | c.3459G>T (p.Val1153=) c.*3173G>T (n.*3173G>T) c.3276G>T (p.Val1092=) c.*1834G>T (n.*1834G>T) c.3453G>T (p.Val1151=) c.*3283G>T (n.*3283G>T) c.3033G>T (p.Val1011=) c.207G>T (p.Val69=) c.1050G>T (p.Val350=) c.41G>T c.1109G>T c.2241G>T (p.Val747=) c.3369G>T (p.Val1123=) c.284G>T c.3549G>T (p.Val1183=) c.3216G>T (p.Val1072=) | |
7 | g.117614705G>A | CA368993720 | CFTR | c.3460G>A (p.Asp1154Asn) c.*3174G>A (n.*3174G>A) c.3277G>A (p.Asp1093Asn) c.*1835G>A (n.*1835G>A) c.3454G>A (p.Asp1152Asn) c.*3284G>A (n.*3284G>A) c.3034G>A (p.Asp1012Asn) c.208G>A (p.Asp70Asn) c.1051G>A (p.Asp351Asn) c.42G>A c.1110G>A c.2242G>A (p.Asp748Asn) c.3370G>A (p.Asp1124Asn) c.285G>A c.3550G>A (p.Asp1184Asn) c.3217G>A (p.Asp1073Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117614705G>C | CA368993721 | CFTR | c.3460G>C (p.Asp1154His) c.*3174G>C (n.*3174G>C) c.3277G>C (p.Asp1093His) c.*1835G>C (n.*1835G>C) c.3454G>C (p.Asp1152His) c.*3284G>C (n.*3284G>C) c.3034G>C (p.Asp1012His) c.208G>C (p.Asp70His) c.1051G>C (p.Asp351His) c.42G>C c.1110G>C c.2242G>C (p.Asp748His) c.3370G>C (p.Asp1124His) c.285G>C c.3550G>C (p.Asp1184His) c.3217G>C (p.Asp1073His) | |
7 | g.117614705G= | CA1737392255 | CFTR | c.3460G= (p.Asp1154=) c.*3174G= (n.*3174G=) c.3277G= (p.Asp1093=) c.*1835G= (n.*1835G=) c.3454G= (p.Asp1152=) c.*3284G= (n.*3284G=) c.3034G= (p.Asp1012=) c.208G= (p.Asp70=) c.1051G= (p.Asp351=) c.42G= c.1110G= c.2242G= (p.Asp748=) c.3370G= (p.Asp1124=) c.285G= c.3550G= (p.Asp1184=) c.3217G= (p.Asp1073=) | |
7 | g.117614705G>T | CA327196 | CFTR | c.3460G>T (p.Asp1154Tyr) c.*3174G>T (n.*3174G>T) c.3277G>T (p.Asp1093Tyr) c.*1835G>T (n.*1835G>T) c.3454G>T (p.Asp1152Tyr) c.*3284G>T (n.*3284G>T) c.3034G>T (p.Asp1012Tyr) c.208G>T (p.Asp70Tyr) c.1051G>T (p.Asp351Tyr) c.42G>T c.1110G>T c.2242G>T (p.Asp748Tyr) c.3370G>T (p.Asp1124Tyr) c.285G>T c.3550G>T (p.Asp1184Tyr) c.3217G>T (p.Asp1073Tyr) | ClinVar dbSNP |
7 | g.117614706A= | CA1737392257 | CFTR | c.3461A= (p.Asp1154=) c.*3175A= (n.*3175A=) c.3278A= (p.Asp1093=) c.*1836A= (n.*1836A=) c.3455A= (p.Asp1152=) c.*3285A= (n.*3285A=) c.3035A= (p.Asp1012=) c.209A= (p.Asp70=) c.1052A= (p.Asp351=) c.43A= c.1111A= c.2243A= (p.Asp748=) c.3371A= (p.Asp1124=) c.286A= c.3551A= (p.Asp1184=) c.3218A= (p.Asp1073=) | |
7 | g.117614706A>C | CA368993727 | CFTR | c.3461A>C (p.Asp1154Ala) c.*3175A>C (n.*3175A>C) c.3278A>C (p.Asp1093Ala) c.*1836A>C (n.*1836A>C) c.3455A>C (p.Asp1152Ala) c.*3285A>C (n.*3285A>C) c.3035A>C (p.Asp1012Ala) c.209A>C (p.Asp70Ala) c.1052A>C (p.Asp351Ala) c.43A>C c.1111A>C c.2243A>C (p.Asp748Ala) c.3371A>C (p.Asp1124Ala) c.286A>C c.3551A>C (p.Asp1184Ala) c.3218A>C (p.Asp1073Ala) | |
7 | g.117614706A>G | CA327198 | CFTR | c.3461A>G (p.Asp1154Gly) c.*3175A>G (n.*3175A>G) c.3278A>G (p.Asp1093Gly) c.*1836A>G (n.*1836A>G) c.3455A>G (p.Asp1152Gly) c.*3285A>G (n.*3285A>G) c.3035A>G (p.Asp1012Gly) c.209A>G (p.Asp70Gly) c.1052A>G (p.Asp351Gly) c.43A>G c.1111A>G c.2243A>G (p.Asp748Gly) c.3371A>G (p.Asp1124Gly) c.286A>G c.3551A>G (p.Asp1184Gly) c.3218A>G (p.Asp1073Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117614706A>T | CA164968943 | CFTR | c.3461A>T (p.Asp1154Val) c.*3175A>T (n.*3175A>T) c.3278A>T (p.Asp1093Val) c.*1836A>T (n.*1836A>T) c.3455A>T (p.Asp1152Val) c.*3285A>T (n.*3285A>T) c.3035A>T (p.Asp1012Val) c.209A>T (p.Asp70Val) c.1052A>T (p.Asp351Val) c.43A>T c.1111A>T c.2243A>T (p.Asp748Val) c.3371A>T (p.Asp1124Val) c.286A>T c.3551A>T (p.Asp1184Val) c.3218A>T (p.Asp1073Val) | dbSNP |
7 | g.117614707T>A | CA368993730 | CFTR | c.3462T>A (p.Asp1154Glu) c.*3176T>A (n.*3176T>A) c.3279T>A (p.Asp1093Glu) c.*1837T>A (n.*1837T>A) c.3456T>A (p.Asp1152Glu) c.*3286T>A (n.*3286T>A) c.3036T>A (p.Asp1012Glu) c.210T>A (p.Asp70Glu) c.1053T>A (p.Asp351Glu) c.44T>A c.1112T>A c.2244T>A (p.Asp748Glu) c.3372T>A (p.Asp1124Glu) c.287T>A c.3552T>A (p.Asp1184Glu) c.3219T>A (p.Asp1073Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614707T>C | CA457230212 | CFTR | c.3462T>C (p.Asp1154=) c.*3176T>C (n.*3176T>C) c.3279T>C (p.Asp1093=) c.*1837T>C (n.*1837T>C) c.3456T>C (p.Asp1152=) c.*3286T>C (n.*3286T>C) c.3036T>C (p.Asp1012=) c.210T>C (p.Asp70=) c.1053T>C (p.Asp351=) c.44T>C c.1112T>C c.2244T>C (p.Asp748=) c.3372T>C (p.Asp1124=) c.287T>C c.3552T>C (p.Asp1184=) c.3219T>C (p.Asp1073=) | |
7 | g.117614707T>G | CA368993731 | CFTR | c.3462T>G (p.Asp1154Glu) c.*3176T>G (n.*3176T>G) c.3279T>G (p.Asp1093Glu) c.*1837T>G (n.*1837T>G) c.3456T>G (p.Asp1152Glu) c.*3286T>G (n.*3286T>G) c.3036T>G (p.Asp1012Glu) c.210T>G (p.Asp70Glu) c.1053T>G (p.Asp351Glu) c.44T>G c.1112T>G c.2244T>G (p.Asp748Glu) c.3372T>G (p.Asp1124Glu) c.287T>G c.3552T>G (p.Asp1184Glu) c.3219T>G (p.Asp1073Glu) | gnomAD v4 |
7 | g.117614707T= | CA1737392259 | CFTR | c.3462T= (p.Asp1154=) c.*3176T= (n.*3176T=) c.3279T= (p.Asp1093=) c.*1837T= (n.*1837T=) c.3456T= (p.Asp1152=) c.*3286T= (n.*3286T=) c.3036T= (p.Asp1012=) c.210T= (p.Asp70=) c.1053T= (p.Asp351=) c.44T= c.1112T= c.2244T= (p.Asp748=) c.3372T= (p.Asp1124=) c.287T= c.3552T= (p.Asp1184=) c.3219T= (p.Asp1073=) | |
7 | g.117614708A>C | CA368993735 | CFTR | c.3463A>C (p.Ser1155Arg) c.*3177A>C (n.*3177A>C) c.3280A>C (p.Ser1094Arg) c.*1838A>C (n.*1838A>C) c.3457A>C (p.Ser1153Arg) c.*3287A>C (n.*3287A>C) c.3037A>C (p.Ser1013Arg) c.211A>C (p.Ser71Arg) c.1054A>C (p.Ser352Arg) c.45A>C c.1113A>C c.2245A>C (p.Ser749Arg) c.3373A>C (p.Ser1125Arg) c.288A>C c.3553A>C (p.Ser1185Arg) c.3220A>C (p.Ser1074Arg) | |
7 | g.117614708A>G | CA368993736 | CFTR | c.3463A>G (p.Ser1155Gly) c.*3177A>G (n.*3177A>G) c.3280A>G (p.Ser1094Gly) c.*1838A>G (n.*1838A>G) c.3457A>G (p.Ser1153Gly) c.*3287A>G (n.*3287A>G) c.3037A>G (p.Ser1013Gly) c.211A>G (p.Ser71Gly) c.1054A>G (p.Ser352Gly) c.45A>G c.1113A>G c.2245A>G (p.Ser749Gly) c.3373A>G (p.Ser1125Gly) c.288A>G c.3553A>G (p.Ser1185Gly) c.3220A>G (p.Ser1074Gly) | |
7 | g.117614708A>T | CA368993738 | CFTR | c.3463A>T (p.Ser1155Cys) c.*3177A>T (n.*3177A>T) c.3280A>T (p.Ser1094Cys) c.*1838A>T (n.*1838A>T) c.3457A>T (p.Ser1153Cys) c.*3287A>T (n.*3287A>T) c.3037A>T (p.Ser1013Cys) c.211A>T (p.Ser71Cys) c.1054A>T (p.Ser352Cys) c.45A>T c.1113A>T c.2245A>T (p.Ser749Cys) c.3373A>T (p.Ser1125Cys) c.288A>T c.3553A>T (p.Ser1185Cys) c.3220A>T (p.Ser1074Cys) | |
7 | g.117614709G>A | CA368993740 | CFTR | c.3464G>A (p.Ser1155Asn) c.*3178G>A (n.*3178G>A) c.3281G>A (p.Ser1094Asn) c.*1839G>A (n.*1839G>A) c.3458G>A (p.Ser1153Asn) c.*3288G>A (n.*3288G>A) c.3038G>A (p.Ser1013Asn) c.212G>A (p.Ser71Asn) c.1055G>A (p.Ser352Asn) c.46G>A c.1114G>A c.2246G>A (p.Ser749Asn) c.3374G>A (p.Ser1125Asn) c.289G>A c.3554G>A (p.Ser1185Asn) c.3221G>A (p.Ser1074Asn) | |
7 | g.117614709G>C | CA368993745 | CFTR | c.3464G>C (p.Ser1155Thr) c.*3178G>C (n.*3178G>C) c.3281G>C (p.Ser1094Thr) c.*1839G>C (n.*1839G>C) c.3458G>C (p.Ser1153Thr) c.*3288G>C (n.*3288G>C) c.3038G>C (p.Ser1013Thr) c.212G>C (p.Ser71Thr) c.1055G>C (p.Ser352Thr) c.46G>C c.1114G>C c.2246G>C (p.Ser749Thr) c.3374G>C (p.Ser1125Thr) c.289G>C c.3554G>C (p.Ser1185Thr) c.3221G>C (p.Ser1074Thr) | |
7 | g.117614709G>T | CA368993743 | CFTR | c.3464G>T (p.Ser1155Ile) c.*3178G>T (n.*3178G>T) c.3281G>T (p.Ser1094Ile) c.*1839G>T (n.*1839G>T) c.3458G>T (p.Ser1153Ile) c.*3288G>T (n.*3288G>T) c.3038G>T (p.Ser1013Ile) c.212G>T (p.Ser71Ile) c.1055G>T (p.Ser352Ile) c.46G>T c.1114G>T c.2246G>T (p.Ser749Ile) c.3374G>T (p.Ser1125Ile) c.289G>T c.3554G>T (p.Ser1185Ile) c.3221G>T (p.Ser1074Ile) | |
7 | g.117614710C>A | CA368993747 | CFTR | c.3465C>A (p.Ser1155Arg) c.*3179C>A (n.*3179C>A) c.3282C>A (p.Ser1094Arg) c.*1840C>A (n.*1840C>A) c.3459C>A (p.Ser1153Arg) c.*3289C>A (n.*3289C>A) c.3039C>A (p.Ser1013Arg) c.213C>A (p.Ser71Arg) c.1056C>A (p.Ser352Arg) c.47C>A c.1115C>A c.2247C>A (p.Ser749Arg) c.3375C>A (p.Ser1125Arg) c.290C>A c.3555C>A (p.Ser1185Arg) c.3222C>A (p.Ser1074Arg) | ClinVar gnomAD v4 |
7 | g.117614710C>G | CA368993749 | CFTR | c.3465C>G (p.Ser1155Arg) c.*3179C>G (n.*3179C>G) c.3282C>G (p.Ser1094Arg) c.*1840C>G (n.*1840C>G) c.3459C>G (p.Ser1153Arg) c.*3289C>G (n.*3289C>G) c.3039C>G (p.Ser1013Arg) c.213C>G (p.Ser71Arg) c.1056C>G (p.Ser352Arg) c.47C>G c.1115C>G c.2247C>G (p.Ser749Arg) c.3375C>G (p.Ser1125Arg) c.290C>G c.3555C>G (p.Ser1185Arg) c.3222C>G (p.Ser1074Arg) | |
7 | g.117614710C>T | CA457230214 | CFTR | c.3465C>T (p.Ser1155=) c.*3179C>T (n.*3179C>T) c.3282C>T (p.Ser1094=) c.*1840C>T (n.*1840C>T) c.3459C>T (p.Ser1153=) c.*3289C>T (n.*3289C>T) c.3039C>T (p.Ser1013=) c.213C>T (p.Ser71=) c.1056C>T (p.Ser352=) c.47C>T c.1115C>T c.2247C>T (p.Ser749=) c.3375C>T (p.Ser1125=) c.290C>T c.3555C>T (p.Ser1185=) c.3222C>T (p.Ser1074=) | |
7 | g.117614711T>A | CA368993751 | CFTR | c.3466T>A (p.Leu1156Met) c.*3180T>A (n.*3180T>A) c.3283T>A (p.Leu1095Met) c.*1841T>A (n.*1841T>A) c.3460T>A (p.Leu1154Met) c.*3290T>A (n.*3290T>A) c.3040T>A (p.Leu1014Met) c.214T>A (p.Leu72Met) c.1057T>A (p.Leu353Met) c.48T>A c.1116T>A c.2248T>A (p.Leu750Met) c.3376T>A (p.Leu1126Met) c.291T>A c.3556T>A (p.Leu1186Met) c.3223T>A (p.Leu1075Met) | |
7 | g.117614711T>C | CA457230215 | CFTR | c.3466T>C (p.Leu1156=) c.*3180T>C (n.*3180T>C) c.3283T>C (p.Leu1095=) c.*1841T>C (n.*1841T>C) c.3460T>C (p.Leu1154=) c.*3290T>C (n.*3290T>C) c.3040T>C (p.Leu1014=) c.214T>C (p.Leu72=) c.1057T>C (p.Leu353=) c.48T>C c.1116T>C c.2248T>C (p.Leu750=) c.3376T>C (p.Leu1126=) c.291T>C c.3556T>C (p.Leu1186=) c.3223T>C (p.Leu1075=) | |
7 | g.117614711T>G | CA368993753 | CFTR | c.3466T>G (p.Leu1156Val) c.*3180T>G (n.*3180T>G) c.3283T>G (p.Leu1095Val) c.*1841T>G (n.*1841T>G) c.3460T>G (p.Leu1154Val) c.*3290T>G (n.*3290T>G) c.3040T>G (p.Leu1014Val) c.214T>G (p.Leu72Val) c.1057T>G (p.Leu353Val) c.48T>G c.1116T>G c.2248T>G (p.Leu750Val) c.3376T>G (p.Leu1126Val) c.291T>G c.3556T>G (p.Leu1186Val) c.3223T>G (p.Leu1075Val) | |
7 | g.117614712T>A | CA368993755 | CFTR | c.3467T>A (p.Leu1156Ter) c.*3181T>A (n.*3181T>A) c.3284T>A (p.Leu1095Ter) c.*1842T>A (n.*1842T>A) c.3461T>A (p.Leu1154Ter) c.*3291T>A (n.*3291T>A) c.3041T>A (p.Leu1014Ter) c.215T>A (p.Leu72Ter) c.1058T>A (p.Leu353Ter) c.49T>A c.1117T>A c.2249T>A (p.Leu750Ter) c.3377T>A (p.Leu1126Ter) c.292T>A c.3557T>A (p.Leu1186Ter) c.3224T>A (p.Leu1075Ter) | |
7 | g.117614712T>C | CA368993757 | CFTR | c.3467T>C (p.Leu1156Ser) c.*3181T>C (n.*3181T>C) c.3284T>C (p.Leu1095Ser) c.*1842T>C (n.*1842T>C) c.3461T>C (p.Leu1154Ser) c.*3291T>C (n.*3291T>C) c.3041T>C (p.Leu1014Ser) c.215T>C (p.Leu72Ser) c.1058T>C (p.Leu353Ser) c.49T>C c.1117T>C c.2249T>C (p.Leu750Ser) c.3377T>C (p.Leu1126Ser) c.292T>C c.3557T>C (p.Leu1186Ser) c.3224T>C (p.Leu1075Ser) | |
7 | g.117614712T>G | CA368993759 | CFTR | c.3467T>G (p.Leu1156Trp) c.*3181T>G (n.*3181T>G) c.3284T>G (p.Leu1095Trp) c.*1842T>G (n.*1842T>G) c.3461T>G (p.Leu1154Trp) c.*3291T>G (n.*3291T>G) c.3041T>G (p.Leu1014Trp) c.215T>G (p.Leu72Trp) c.1058T>G (p.Leu353Trp) c.49T>G c.1117T>G c.2249T>G (p.Leu750Trp) c.3377T>G (p.Leu1126Trp) c.292T>G c.3557T>G (p.Leu1186Trp) c.3224T>G (p.Leu1075Trp) | COSMIC |
7 | g.117614713G>A | CA242034 | CFTR | c.3468G>A (p.Leu1156=) c.*3182G>A (n.*3182G>A) c.3285G>A (p.Leu1095=) c.*1843G>A (n.*1843G>A) c.3462G>A (p.Leu1154=) c.*3292G>A (n.*3292G>A) c.3042G>A (p.Leu1014=) c.216G>A (p.Leu72=) c.1059G>A (p.Leu353=) c.50G>A c.1118G>A c.2250G>A (p.Leu750=) c.3378G>A (p.Leu1126=) c.293G>A c.3558G>A (p.Leu1186=) c.3225G>A (p.Leu1075=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614713G>C | CA368993763 | CFTR | c.3468G>C (p.Leu1156Phe) c.*3182G>C (n.*3182G>C) c.3285G>C (p.Leu1095Phe) c.*1843G>C (n.*1843G>C) c.3462G>C (p.Leu1154Phe) c.*3292G>C (n.*3292G>C) c.3042G>C (p.Leu1014Phe) c.216G>C (p.Leu72Phe) c.1059G>C (p.Leu353Phe) c.50G>C c.1118G>C c.2250G>C (p.Leu750Phe) c.3378G>C (p.Leu1126Phe) c.293G>C c.3558G>C (p.Leu1186Phe) c.3225G>C (p.Leu1075Phe) | |
7 | g.117614713G= | CA1737392261 | CFTR | c.3468G= (p.Leu1156=) c.*3182G= (n.*3182G=) c.3285G= (p.Leu1095=) c.*1843G= (n.*1843G=) c.3462G= (p.Leu1154=) c.*3292G= (n.*3292G=) c.3042G= (p.Leu1014=) c.216G= (p.Leu72=) c.1059G= (p.Leu353=) c.50G= c.1118G= c.2250G= (p.Leu750=) c.3378G= (p.Leu1126=) c.293G= c.3558G= (p.Leu1186=) c.3225G= (p.Leu1075=) | |
7 | g.117614713G>T | CA4451462 | CFTR | c.3468G>T (p.Leu1156Phe) c.*3182G>T (n.*3182G>T) c.3285G>T (p.Leu1095Phe) c.*1843G>T (n.*1843G>T) c.3462G>T (p.Leu1154Phe) c.*3292G>T (n.*3292G>T) c.3042G>T (p.Leu1014Phe) c.216G>T (p.Leu72Phe) c.1059G>T (p.Leu353Phe) c.50G>T c.1118G>T c.2250G>T (p.Leu750Phe) c.3378G>T (p.Leu1126Phe) c.293G>T c.3558G>T (p.Leu1186Phe) c.3225G>T (p.Leu1075Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614713_117614719delinsATAAAAAGCTTATAAAAAG | CA2580076400 | CFTR | c.3468_3468+6delinsATAAAAAGCTTATAAAAAG c.*3182_*3182+6delinsATAAAAAGCTTATAAAAAG c.3285_3285+6delinsATAAAAAGCTTATAAAAAG c.*1843_*1843+6delinsATAAAAAGCTTATAAAAAG c.3462_3462+6delinsATAAAAAGCTTATAAAAAG c.*3292_*3292+6delinsATAAAAAGCTTATAAAAAG c.3042_3042+6delinsATAAAAAGCTTATAAAAAG c.216_216+6delinsATAAAAAGCTTATAAAAAG c.1059_1059+6delinsATAAAAAGCTTATAAAAAG c.50_50+6delinsATAAAAAGCTTATAAAAAG c.1118_1118+6delinsATAAAAAGCTTATAAAAAG c.2250_2250+6delinsATAAAAAGCTTATAAAAAG c.3378_3378+6delinsATAAAAAGCTTATAAAAAG c.293_293+6delinsATAAAAAGCTTATAAAAAG c.3558_3558+6delinsATAAAAAGCTTATAAAAAG c.3225_3225+6delinsATAAAAAGCTTATAAAAAG | ClinVar |
7 | g.117614714G>A | CA368993767 | CFTR | c.3468+1G>A (n.3468+1G>A) c.*3182+1G>A (n.*3182+1G>A) c.3285+1G>A (n.3285+1G>A) c.*1843+1G>A (n.*1843+1G>A) c.3462+1G>A (n.3462+1G>A) c.*3292+1G>A (n.*3292+1G>A) c.3042+1G>A (n.3042+1G>A) c.216+1G>A (n.216+1G>A) c.1059+1G>A (n.1059+1G>A) c.50+1G>A c.1118+1G>A c.2250+1G>A (n.2250+1G>A) c.3378+1G>A (n.3378+1G>A) c.293+1G>A c.3558+1G>A (n.3558+1G>A) c.3225+1G>A (n.3225+1G>A) | ClinVar dbSNP |
7 | g.117614714G>C | CA368993771 | CFTR | c.3468+1G>C (n.3468+1G>C) c.*3182+1G>C (n.*3182+1G>C) c.3285+1G>C (n.3285+1G>C) c.*1843+1G>C (n.*1843+1G>C) c.3462+1G>C (n.3462+1G>C) c.*3292+1G>C (n.*3292+1G>C) c.3042+1G>C (n.3042+1G>C) c.216+1G>C (n.216+1G>C) c.1059+1G>C (n.1059+1G>C) c.50+1G>C c.1118+1G>C c.2250+1G>C (n.2250+1G>C) c.3378+1G>C (n.3378+1G>C) c.293+1G>C c.3558+1G>C (n.3558+1G>C) c.3225+1G>C (n.3225+1G>C) | |
7 | g.117614714G= | CA1737392263 | CFTR | c.3468+1G= (n.3468+1G=) c.*3182+1G= (n.*3182+1G=) c.3285+1G= (n.3285+1G=) c.*1843+1G= (n.*1843+1G=) c.3462+1G= (n.3462+1G=) c.*3292+1G= (n.*3292+1G=) c.3042+1G= (n.3042+1G=) c.216+1G= (n.216+1G=) c.1059+1G= (n.1059+1G=) c.50+1G= c.1118+1G= c.2250+1G= (n.2250+1G=) c.3378+1G= (n.3378+1G=) c.293+1G= c.3558+1G= (n.3558+1G=) c.3225+1G= (n.3225+1G=) | |
7 | g.117614714G>T | CA368993769 | CFTR | c.3468+1G>T (n.3468+1G>T) c.*3182+1G>T (n.*3182+1G>T) c.3285+1G>T (n.3285+1G>T) c.*1843+1G>T (n.*1843+1G>T) c.3462+1G>T (n.3462+1G>T) c.*3292+1G>T (n.*3292+1G>T) c.3042+1G>T (n.3042+1G>T) c.216+1G>T (n.216+1G>T) c.1059+1G>T (n.1059+1G>T) c.50+1G>T c.1118+1G>T c.2250+1G>T (n.2250+1G>T) c.3378+1G>T (n.3378+1G>T) c.293+1G>T c.3558+1G>T (n.3558+1G>T) c.3225+1G>T (n.3225+1G>T) | ClinVar dbSNP |
7 | g.117614715T>A | CA368993774 | CFTR | c.3468+2T>A (n.3468+2T>A) c.*3182+2T>A (n.*3182+2T>A) c.3285+2T>A (n.3285+2T>A) c.*1843+2T>A (n.*1843+2T>A) c.3462+2T>A (n.3462+2T>A) c.*3292+2T>A (n.*3292+2T>A) c.3042+2T>A (n.3042+2T>A) c.216+2T>A (n.216+2T>A) c.1059+2T>A (n.1059+2T>A) c.50+2T>A c.1118+2T>A c.2250+2T>A (n.2250+2T>A) c.3378+2T>A (n.3378+2T>A) c.293+2T>A c.3558+2T>A (n.3558+2T>A) c.3225+2T>A (n.3225+2T>A) | |
7 | g.117614715T>C | CA368993778 | CFTR | c.3468+2T>C (n.3468+2T>C) c.*3182+2T>C (n.*3182+2T>C) c.3285+2T>C (n.3285+2T>C) c.*1843+2T>C (n.*1843+2T>C) c.3462+2T>C (n.3462+2T>C) c.*3292+2T>C (n.*3292+2T>C) c.3042+2T>C (n.3042+2T>C) c.216+2T>C (n.216+2T>C) c.1059+2T>C (n.1059+2T>C) c.50+2T>C c.1118+2T>C c.2250+2T>C (n.2250+2T>C) c.3378+2T>C (n.3378+2T>C) c.293+2T>C c.3558+2T>C (n.3558+2T>C) c.3225+2T>C (n.3225+2T>C) | ClinVar dbSNP |
7 | g.117614715T>G | CA368993776 | CFTR | c.3468+2T>G (n.3468+2T>G) c.*3182+2T>G (n.*3182+2T>G) c.3285+2T>G (n.3285+2T>G) c.*1843+2T>G (n.*1843+2T>G) c.3462+2T>G (n.3462+2T>G) c.*3292+2T>G (n.*3292+2T>G) c.3042+2T>G (n.3042+2T>G) c.216+2T>G (n.216+2T>G) c.1059+2T>G (n.1059+2T>G) c.50+2T>G c.1118+2T>G c.2250+2T>G (n.2250+2T>G) c.3378+2T>G (n.3378+2T>G) c.293+2T>G c.3558+2T>G (n.3558+2T>G) c.3225+2T>G (n.3225+2T>G) | |
7 | g.117614715T= | CA1737392266 | CFTR | c.3468+2T= (n.3468+2T=) c.*3182+2T= (n.*3182+2T=) c.3285+2T= (n.3285+2T=) c.*1843+2T= (n.*1843+2T=) c.3462+2T= (n.3462+2T=) c.*3292+2T= (n.*3292+2T=) c.3042+2T= (n.3042+2T=) c.216+2T= (n.216+2T=) c.1059+2T= (n.1059+2T=) c.50+2T= c.1118+2T= c.2250+2T= (n.2250+2T=) c.3378+2T= (n.3378+2T=) c.293+2T= c.3558+2T= (n.3558+2T=) c.3225+2T= (n.3225+2T=) | |
7 | g.117614715dup | CA658657705 | CFTR | c.3468+2dup (n.3468+2dup) c.*3182+2dup (n.*3182+2dup) c.3285+2dup (n.3285+2dup) c.*1843+2dup (n.*1843+2dup) c.3462+2dup (n.3462+2dup) c.*3292+2dup (n.*3292+2dup) c.3042+2dup (n.3042+2dup) c.216+2dup (n.216+2dup) c.1059+2dup (n.1059+2dup) c.50+2dup c.1118+2dup c.2250+2dup (n.2250+2dup) c.3378+2dup (n.3378+2dup) c.293+2dup c.3558+2dup (n.3558+2dup) c.3225+2dup (n.3225+2dup) | ClinVar dbSNP gnomAD v4 |
7 | g.117614716A>G | CA2579000305 | CFTR | c.3468+3A>G (n.3468+3A>G) c.*3182+3A>G (n.*3182+3A>G) c.3285+3A>G (n.3285+3A>G) c.*1843+3A>G (n.*1843+3A>G) c.3462+3A>G (n.3462+3A>G) c.*3292+3A>G (n.*3292+3A>G) c.3042+3A>G (n.3042+3A>G) c.216+3A>G (n.216+3A>G) c.1059+3A>G (n.1059+3A>G) c.50+3A>G c.1118+3A>G c.2250+3A>G (n.2250+3A>G) c.3378+3A>G (n.3378+3A>G) c.293+3A>G c.3558+3A>G (n.3558+3A>G) c.3225+3A>G (n.3225+3A>G) | dbSNP |
7 | g.117614717A>C | CA2684619892 | CFTR | c.3468+4A>C (n.3468+4A>C) c.*3182+4A>C (n.*3182+4A>C) c.3285+4A>C (n.3285+4A>C) c.*1843+4A>C (n.*1843+4A>C) c.3462+4A>C (n.3462+4A>C) c.*3292+4A>C (n.*3292+4A>C) c.3042+4A>C (n.3042+4A>C) c.216+4A>C (n.216+4A>C) c.1059+4A>C (n.1059+4A>C) c.50+4A>C c.1118+4A>C c.2250+4A>C (n.2250+4A>C) c.3378+4A>C (n.3378+4A>C) c.293+4A>C c.3558+4A>C (n.3558+4A>C) c.3225+4A>C (n.3225+4A>C) | gnomAD v4 |
7 | g.117614718G>A | CA658657706 | CFTR | c.3468+5G>A (n.3468+5G>A) c.*3182+5G>A (n.*3182+5G>A) c.3285+5G>A (n.3285+5G>A) c.*1843+5G>A (n.*1843+5G>A) c.3462+5G>A (n.3462+5G>A) c.*3292+5G>A (n.*3292+5G>A) c.3042+5G>A (n.3042+5G>A) c.216+5G>A (n.216+5G>A) c.1059+5G>A (n.1059+5G>A) c.50+5G>A c.1118+5G>A c.2250+5G>A (n.2250+5G>A) c.3378+5G>A (n.3378+5G>A) c.293+5G>A c.3558+5G>A (n.3558+5G>A) c.3225+5G>A (n.3225+5G>A) | ClinVar dbSNP |
7 | g.117614718G= | CA1737392268 | CFTR | c.3468+5G= (n.3468+5G=) c.*3182+5G= (n.*3182+5G=) c.3285+5G= (n.3285+5G=) c.*1843+5G= (n.*1843+5G=) c.3462+5G= (n.3462+5G=) c.*3292+5G= (n.*3292+5G=) c.3042+5G= (n.3042+5G=) c.216+5G= (n.216+5G=) c.1059+5G= (n.1059+5G=) c.50+5G= c.1118+5G= c.2250+5G= (n.2250+5G=) c.3378+5G= (n.3378+5G=) c.293+5G= c.3558+5G= (n.3558+5G=) c.3225+5G= (n.3225+5G=) | |
7 | g.117614719T>A | CA10623102 | CFTR | c.3468+6T>A (n.3468+6T>A) c.*3182+6T>A (n.*3182+6T>A) c.3285+6T>A (n.3285+6T>A) c.*1843+6T>A (n.*1843+6T>A) c.3462+6T>A (n.3462+6T>A) c.*3292+6T>A (n.*3292+6T>A) c.3042+6T>A (n.3042+6T>A) c.216+6T>A (n.216+6T>A) c.1059+6T>A (n.1059+6T>A) c.50+6T>A c.1118+6T>A c.2250+6T>A (n.2250+6T>A) c.3378+6T>A (n.3378+6T>A) c.293+6T>A c.3558+6T>A (n.3558+6T>A) c.3225+6T>A (n.3225+6T>A) | ClinVar dbSNP |
7 | g.117614719T>C | CA4451463 | CFTR | c.3468+6T>C (n.3468+6T>C) c.*3182+6T>C (n.*3182+6T>C) c.3285+6T>C (n.3285+6T>C) c.*1843+6T>C (n.*1843+6T>C) c.3462+6T>C (n.3462+6T>C) c.*3292+6T>C (n.*3292+6T>C) c.3042+6T>C (n.3042+6T>C) c.216+6T>C (n.216+6T>C) c.1059+6T>C (n.1059+6T>C) c.50+6T>C c.1118+6T>C c.2250+6T>C (n.2250+6T>C) c.3378+6T>C (n.3378+6T>C) c.293+6T>C c.3558+6T>C (n.3558+6T>C) c.3225+6T>C (n.3225+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117614719T= | CA1737392270 | CFTR | c.3468+6T= (n.3468+6T=) c.*3182+6T= (n.*3182+6T=) c.3285+6T= (n.3285+6T=) c.*1843+6T= (n.*1843+6T=) c.3462+6T= (n.3462+6T=) c.*3292+6T= (n.*3292+6T=) c.3042+6T= (n.3042+6T=) c.216+6T= (n.216+6T=) c.1059+6T= (n.1059+6T=) c.50+6T= c.1118+6T= c.2250+6T= (n.2250+6T=) c.3378+6T= (n.3378+6T=) c.293+6T= c.3558+6T= (n.3558+6T=) c.3225+6T= (n.3225+6T=) | |
7 | g.117614720C>A | CA2684619893 | CFTR | c.3468+7C>A (n.3468+7C>A) c.*3182+7C>A (n.*3182+7C>A) c.3285+7C>A (n.3285+7C>A) c.*1843+7C>A (n.*1843+7C>A) c.3462+7C>A (n.3462+7C>A) c.*3292+7C>A (n.*3292+7C>A) c.3042+7C>A (n.3042+7C>A) c.216+7C>A (n.216+7C>A) c.1059+7C>A (n.1059+7C>A) c.50+7C>A c.1118+7C>A c.2250+7C>A (n.2250+7C>A) c.3378+7C>A (n.3378+7C>A) c.293+7C>A c.3558+7C>A (n.3558+7C>A) c.3225+7C>A (n.3225+7C>A) | gnomAD v4 |