| 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.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=) |