Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.*2334-674_*3081+198del
c.2437-674_3184+198del
c.*920-674_*1667+198del
c.*2444-674_*3191+198del
c.2194-674_2941+198del
c.211-674_958+198del
c.270-674_1017+198del
c.1402-674_2149+198del
c.2530-674_3277+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
7g.117602152_117612040delCA2499218685CFTRc.2620-674_3367+232del
c.*2334-674_*3081+232del
c.2437-674_3184+232del
c.*920-674_*1667+232del
c.*2444-674_*3191+232del
c.2194-674_2941+232del
c.211-674_958+232del
c.270-674_1017+232del
c.1402-674_2149+232del
c.2530-674_3277+232del
c.2710-674_3457+232del
c.2377-674_3124+232del
 ClinVar
7g.117604867_117612068delCA913190213CFTRc.2908+1085_3367+260del
c.*2622+1085_*3081+260del
c.2725+1085_3184+260del
c.*1208+1085_*1667+260del
c.*2732+1085_*3191+260del
c.2482+1085_2941+260del
c.499+1085_958+260del
c.558+1085_1017+260del
c.1690+1085_2149+260del
c.2818+1085_3277+260del
c.2998+1085_3457+260del
c.2665+1085_3124+260del
 ClinVar
7g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTGCA2580076402CFTRc.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
 ClinVar
7g.117606676_117611810delCA913190200CFTRc.2911_3367+2del
c.*2625_*3081+2del
c.2728_3184+2del
c.*1211_*1667+2del
c.*2735_*3191+2del
c.2485_2941+2del
c.502_958+2del
c.561_1017+2del
c.1693_2149+2del
c.2821_3277+2del
c.3001_3457+2del
c.2668_3124+2del
 ClinVar
7g.117607926_117616824delCA1139532136CFTRc.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
7g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCCCA2580076408CFTRc.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
 ClinVar
7g.117609542_117612056delCA325807CFTRc.2989-977_3367+248del
c.*2703-977_*3081+248del
c.2806-977_3184+248del
c.*1289-977_*1667+248del
c.*2813-977_*3191+248del
c.2563-977_2941+248del
c.580-977_958+248del
c.639-977_1017+248del
c.1771-977_2149+248del
c.2899-977_3277+248del
c.3079-977_3457+248del
c.2746-977_3124+248del
 ClinVar
7g.117610519_117611808delCA913189830CFTRc.2989_3367del
c.*2703_*3081del
c.2806_3184del
c.*1289_*1667del
c.*2813_*3191del
c.2563_2941del
c.580_958del
c.639_1017del
c.1771_2149del
c.2899_3277del
c.3079_3457del
c.2746_3124del
 ClinVar
7g.117610519_117614713delCA913189831CFTRc.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
7g.117611582_117614714delCA913189834CFTRc.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
7g.117611621delCA2580076368CFTRc.3180del (p.Gly1061AspfsTer22)
c.*2894del (n.*2894del)
c.2997del (p.Gly1000AspfsTer22)
c.*1480del (n.*1480del)
c.*3004del (n.*3004del)
c.2754del (p.Gly919AspfsTer22)
c.771del (p.Gly258AspfsTer22)
c.830del
c.1962del (p.Gly655AspfsTer22)
c.3090del (p.Gly1031AspfsTer22)
c.5del
c.3270del (p.Gly1091AspfsTer22)
c.2937del (p.Gly980AspfsTer22)
 ClinVar
7g.117611621A=CA1737386813CFTRc.3180A= (p.Lys1060=)
c.*2894A= (n.*2894A=)
c.2997A= (p.Lys999=)
c.*1480A= (n.*1480A=)
c.*3004A= (n.*3004A=)
c.2754A= (p.Lys918=)
c.771A= (p.Lys257=)
c.830A=
c.1962A= (p.Lys654=)
c.3090A= (p.Lys1030=)
c.5A=
c.3270A= (p.Lys1090=)
c.2937A= (p.Lys979=)
7g.117611621A>CCA368991966CFTRc.3180A>C (p.Lys1060Asn)
c.*2894A>C (n.*2894A>C)
c.2997A>C (p.Lys999Asn)
c.*1480A>C (n.*1480A>C)
c.*3004A>C (n.*3004A>C)
c.2754A>C (p.Lys918Asn)
c.771A>C (p.Lys257Asn)
c.830A>C
c.1962A>C (p.Lys654Asn)
c.3090A>C (p.Lys1030Asn)
c.5A>C
c.3270A>C (p.Lys1090Asn)
c.2937A>C (p.Lys979Asn)
 dbSNP
7g.117611621A>GCA10576717CFTRc.3180A>G (p.Lys1060=)
c.*2894A>G (n.*2894A>G)
c.2997A>G (p.Lys999=)
c.*1480A>G (n.*1480A>G)
c.*3004A>G (n.*3004A>G)
c.2754A>G (p.Lys918=)
c.771A>G (p.Lys257=)
c.830A>G
c.1962A>G (p.Lys654=)
c.3090A>G (p.Lys1030=)
c.5A>G
c.3270A>G (p.Lys1090=)
c.2937A>G (p.Lys979=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611621A>TCA368991968CFTRc.3180A>T (p.Lys1060Asn)
c.*2894A>T (n.*2894A>T)
c.2997A>T (p.Lys999Asn)
c.*1480A>T (n.*1480A>T)
c.*3004A>T (n.*3004A>T)
c.2754A>T (p.Lys918Asn)
c.771A>T (p.Lys257Asn)
c.830A>T
c.1962A>T (p.Lys654Asn)
c.3090A>T (p.Lys1030Asn)
c.5A>T
c.3270A>T (p.Lys1090Asn)
c.2937A>T (p.Lys979Asn)
7g.117611622G>ACA368991973CFTRc.3181G>A (p.Gly1061Arg)
c.*2895G>A (n.*2895G>A)
c.2998G>A (p.Gly1000Arg)
c.*1481G>A (n.*1481G>A)
c.*3005G>A (n.*3005G>A)
c.2755G>A (p.Gly919Arg)
c.772G>A (p.Gly258Arg)
c.831G>A
c.1963G>A (p.Gly655Arg)
c.3091G>A (p.Gly1031Arg)
c.6G>A
c.3271G>A (p.Gly1091Arg)
c.2938G>A (p.Gly980Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117611622G>CCA221023CFTRc.3181G>C (p.Gly1061Arg)
c.*2895G>C (n.*2895G>C)
c.2998G>C (p.Gly1000Arg)
c.*1481G>C (n.*1481G>C)
c.*3005G>C (n.*3005G>C)
c.2755G>C (p.Gly919Arg)
c.772G>C (p.Gly258Arg)
c.831G>C
c.1963G>C (p.Gly655Arg)
c.3091G>C (p.Gly1031Arg)
c.6G>C
c.3271G>C (p.Gly1091Arg)
c.2938G>C (p.Gly980Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611622G=CA1737386826CFTRc.3181G= (p.Gly1061=)
c.*2895G= (n.*2895G=)
c.2998G= (p.Gly1000=)
c.*1481G= (n.*1481G=)
c.*3005G= (n.*3005G=)
c.2755G= (p.Gly919=)
c.772G= (p.Gly258=)
c.831G=
c.1963G= (p.Gly655=)
c.3091G= (p.Gly1031=)
c.6G=
c.3271G= (p.Gly1091=)
c.2938G= (p.Gly980=)
7g.117611622G>TCA368991977CFTRc.3181G>T (p.Gly1061Ter)
c.*2895G>T (n.*2895G>T)
c.2998G>T (p.Gly1000Ter)
c.*1481G>T (n.*1481G>T)
c.*3005G>T (n.*3005G>T)
c.2755G>T (p.Gly919Ter)
c.772G>T (p.Gly258Ter)
c.831G>T
c.1963G>T (p.Gly655Ter)
c.3091G>T (p.Gly1031Ter)
c.6G>T
c.3271G>T (p.Gly1091Ter)
c.2938G>T (p.Gly980Ter)
7g.117611626_117611632delCA2573141588CFTRc.3185_3191del (p.Leu1062HisfsTer19)
c.*2899_*2905del (n.*2899_*2905del)
c.3002_3008del (p.Leu1001HisfsTer19)
c.*1485_*1491del (n.*1485_*1491del)
c.*3009_*3015del (n.*3009_*3015del)
c.2759_2765del (p.Leu920HisfsTer19)
c.776_782del (p.Leu259HisfsTer19)
c.835_841del
c.1967_1973del (p.Leu656HisfsTer19)
c.3095_3101del (p.Leu1032HisfsTer19)
c.10_16del
c.3275_3281del (p.Leu1092HisfsTer19)
c.2942_2948del (p.Leu981HisfsTer19)
 ClinVar dbSNP
7g.117611623G>ACA368991980CFTRc.3182G>A (p.Gly1061Glu)
c.*2896G>A (n.*2896G>A)
c.2999G>A (p.Gly1000Glu)
c.*1482G>A (n.*1482G>A)
c.*3006G>A (n.*3006G>A)
c.2756G>A (p.Gly919Glu)
c.773G>A (p.Gly258Glu)
c.832G>A
c.1964G>A (p.Gly655Glu)
c.3092G>A (p.Gly1031Glu)
c.7G>A
c.3272G>A (p.Gly1091Glu)
c.2939G>A (p.Gly980Glu)
 COSMIC
7g.117611623G>CCA368991983CFTRc.3182G>C (p.Gly1061Ala)
c.*2896G>C (n.*2896G>C)
c.2999G>C (p.Gly1000Ala)
c.*1482G>C (n.*1482G>C)
c.*3006G>C (n.*3006G>C)
c.2756G>C (p.Gly919Ala)
c.773G>C (p.Gly258Ala)
c.832G>C
c.1964G>C (p.Gly655Ala)
c.3092G>C (p.Gly1031Ala)
c.7G>C
c.3272G>C (p.Gly1091Ala)
c.2939G>C (p.Gly980Ala)
7g.117611623G=CA1737386834CFTRc.3182G= (p.Gly1061=)
c.*2896G= (n.*2896G=)
c.2999G= (p.Gly1000=)
c.*1482G= (n.*1482G=)
c.*3006G= (n.*3006G=)
c.2756G= (p.Gly919=)
c.773G= (p.Gly258=)
c.832G=
c.1964G= (p.Gly655=)
c.3092G= (p.Gly1031=)
c.7G=
c.3272G= (p.Gly1091=)
c.2939G= (p.Gly980=)
7g.117611623G>TCA368991985CFTRc.3182G>T (p.Gly1061Val)
c.*2896G>T (n.*2896G>T)
c.2999G>T (p.Gly1000Val)
c.*1482G>T (n.*1482G>T)
c.*3006G>T (n.*3006G>T)
c.2756G>T (p.Gly919Val)
c.773G>T (p.Gly258Val)
c.832G>T
c.1964G>T (p.Gly655Val)
c.3092G>T (p.Gly1031Val)
c.7G>T
c.3272G>T (p.Gly1091Val)
c.2939G>T (p.Gly980Val)
 dbSNP
7g.117611624A=CA1737386841CFTRc.3183A= (p.Gly1061=)
c.*2897A= (n.*2897A=)
c.3000A= (p.Gly1000=)
c.*1483A= (n.*1483A=)
c.*3007A= (n.*3007A=)
c.2757A= (p.Gly919=)
c.774A= (p.Gly258=)
c.833A=
c.1965A= (p.Gly655=)
c.3093A= (p.Gly1031=)
c.8A=
c.3273A= (p.Gly1091=)
c.2940A= (p.Gly980=)
7g.117611624A>CCA457229994CFTRc.3183A>C (p.Gly1061=)
c.*2897A>C (n.*2897A>C)
c.3000A>C (p.Gly1000=)
c.*1483A>C (n.*1483A>C)
c.*3007A>C (n.*3007A>C)
c.2757A>C (p.Gly919=)
c.774A>C (p.Gly258=)
c.833A>C
c.1965A>C (p.Gly655=)
c.3093A>C (p.Gly1031=)
c.8A>C
c.3273A>C (p.Gly1091=)
c.2940A>C (p.Gly980=)
7g.117611624A>GCA457229995CFTRc.3183A>G (p.Gly1061=)
c.*2897A>G (n.*2897A>G)
c.3000A>G (p.Gly1000=)
c.*1483A>G (n.*1483A>G)
c.*3007A>G (n.*3007A>G)
c.2757A>G (p.Gly919=)
c.774A>G (p.Gly258=)
c.833A>G
c.1965A>G (p.Gly655=)
c.3093A>G (p.Gly1031=)
c.8A>G
c.3273A>G (p.Gly1091=)
c.2940A>G (p.Gly980=)
 ClinVar dbSNP
7g.117611624A>TCA457229996CFTRc.3183A>T (p.Gly1061=)
c.*2897A>T (n.*2897A>T)
c.3000A>T (p.Gly1000=)
c.*1483A>T (n.*1483A>T)
c.*3007A>T (n.*3007A>T)
c.2757A>T (p.Gly919=)
c.774A>T (p.Gly258=)
c.833A>T
c.1965A>T (p.Gly655=)
c.3093A>T (p.Gly1031=)
c.8A>T
c.3273A>T (p.Gly1091=)
c.2940A>T (p.Gly980=)
7g.117611625C>ACA368991987CFTRc.3184C>A (p.Leu1062Ile)
c.*2898C>A (n.*2898C>A)
c.3001C>A (p.Leu1001Ile)
c.*1484C>A (n.*1484C>A)
c.*3008C>A (n.*3008C>A)
c.2758C>A (p.Leu920Ile)
c.775C>A (p.Leu259Ile)
c.834C>A
c.1966C>A (p.Leu656Ile)
c.3094C>A (p.Leu1032Ile)
c.9C>A
c.3274C>A (p.Leu1092Ile)
c.2941C>A (p.Leu981Ile)
7g.117611625C>GCA368991989CFTRc.3184C>G (p.Leu1062Val)
c.*2898C>G (n.*2898C>G)
c.3001C>G (p.Leu1001Val)
c.*1484C>G (n.*1484C>G)
c.*3008C>G (n.*3008C>G)
c.2758C>G (p.Leu920Val)
c.775C>G (p.Leu259Val)
c.834C>G
c.1966C>G (p.Leu656Val)
c.3094C>G (p.Leu1032Val)
c.9C>G
c.3274C>G (p.Leu1092Val)
c.2941C>G (p.Leu981Val)
7g.117611625C>TCA457229997CFTRc.3184C>T (p.Leu1062=)
c.*2898C>T (n.*2898C>T)
c.3001C>T (p.Leu1001=)
c.*1484C>T (n.*1484C>T)
c.*3008C>T (n.*3008C>T)
c.2758C>T (p.Leu920=)
c.775C>T (p.Leu259=)
c.834C>T
c.1966C>T (p.Leu656=)
c.3094C>T (p.Leu1032=)
c.9C>T
c.3274C>T (p.Leu1092=)
c.2941C>T (p.Leu981=)
 ClinVar
7g.117611625_117611629dupCA325557CFTRc.3184_3188dup (p.Trp1063CysfsTer22)
c.*2898_*2902dup (n.*2898_*2902dup)
c.3001_3005dup (p.Trp1002CysfsTer22)
c.*1484_*1488dup (n.*1484_*1488dup)
c.*3008_*3012dup (n.*3008_*3012dup)
c.2758_2762dup (p.Trp921CysfsTer22)
c.775_779dup (p.Trp260CysfsTer22)
c.834_838dup
c.1966_1970dup (p.Trp657CysfsTer22)
c.3094_3098dup (p.Trp1033CysfsTer22)
c.9_13dup
c.3274_3278dup (p.Trp1093CysfsTer22)
c.2941_2945dup (p.Trp982CysfsTer22)
 ClinVar dbSNP
7g.117611626T>ACA368991995CFTRc.3185T>A (p.Leu1062Gln)
c.*2899T>A (n.*2899T>A)
c.3002T>A (p.Leu1001Gln)
c.*1485T>A (n.*1485T>A)
c.*3009T>A (n.*3009T>A)
c.2759T>A (p.Leu920Gln)
c.776T>A (p.Leu259Gln)
c.835T>A
c.1967T>A (p.Leu656Gln)
c.3095T>A (p.Leu1032Gln)
c.10T>A
c.3275T>A (p.Leu1092Gln)
c.2942T>A (p.Leu981Gln)
7g.117611626T>CCA368991997CFTRc.3185T>C (p.Leu1062Pro)
c.*2899T>C (n.*2899T>C)
c.3002T>C (p.Leu1001Pro)
c.*1485T>C (n.*1485T>C)
c.*3009T>C (n.*3009T>C)
c.2759T>C (p.Leu920Pro)
c.776T>C (p.Leu259Pro)
c.835T>C
c.1967T>C (p.Leu656Pro)
c.3095T>C (p.Leu1032Pro)
c.10T>C
c.3275T>C (p.Leu1092Pro)
c.2942T>C (p.Leu981Pro)
 ClinVar dbSNP gnomAD v4
7g.117611626T>GCA368991993CFTRc.3185T>G (p.Leu1062Arg)
c.*2899T>G (n.*2899T>G)
c.3002T>G (p.Leu1001Arg)
c.*1485T>G (n.*1485T>G)
c.*3009T>G (n.*3009T>G)
c.2759T>G (p.Leu920Arg)
c.776T>G (p.Leu259Arg)
c.835T>G
c.1967T>G (p.Leu656Arg)
c.3095T>G (p.Leu1032Arg)
c.10T>G
c.3275T>G (p.Leu1092Arg)
c.2942T>G (p.Leu981Arg)
7g.117611627A=CA1737386855CFTRc.3186A= (p.Leu1062=)
c.*2900A= (n.*2900A=)
c.3003A= (p.Leu1001=)
c.*1486A= (n.*1486A=)
c.*3010A= (n.*3010A=)
c.2760A= (p.Leu920=)
c.777A= (p.Leu259=)
c.836A=
c.1968A= (p.Leu656=)
c.3096A= (p.Leu1032=)
c.11A=
c.3276A= (p.Leu1092=)
c.2943A= (p.Leu981=)
7g.117611627A>CCA457229998CFTRc.3186A>C (p.Leu1062=)
c.*2900A>C (n.*2900A>C)
c.3003A>C (p.Leu1001=)
c.*1486A>C (n.*1486A>C)
c.*3010A>C (n.*3010A>C)
c.2760A>C (p.Leu920=)
c.777A>C (p.Leu259=)
c.836A>C
c.1968A>C (p.Leu656=)
c.3096A>C (p.Leu1032=)
c.11A>C
c.3276A>C (p.Leu1092=)
c.2943A>C (p.Leu981=)
7g.117611627A>GCA457229999CFTRc.3186A>G (p.Leu1062=)
c.*2900A>G (n.*2900A>G)
c.3003A>G (p.Leu1001=)
c.*1486A>G (n.*1486A>G)
c.*3010A>G (n.*3010A>G)
c.2760A>G (p.Leu920=)
c.777A>G (p.Leu259=)
c.836A>G
c.1968A>G (p.Leu656=)
c.3096A>G (p.Leu1032=)
c.11A>G
c.3276A>G (p.Leu1092=)
c.2943A>G (p.Leu981=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611627A>TCA457230000CFTRc.3186A>T (p.Leu1062=)
c.*2900A>T (n.*2900A>T)
c.3003A>T (p.Leu1001=)
c.*1486A>T (n.*1486A>T)
c.*3010A>T (n.*3010A>T)
c.2760A>T (p.Leu920=)
c.777A>T (p.Leu259=)
c.836A>T
c.1968A>T (p.Leu656=)
c.3096A>T (p.Leu1032=)
c.11A>T
c.3276A>T (p.Leu1092=)
c.2943A>T (p.Leu981=)
 ClinVar
7g.117611628T>ACA368991999CFTRc.3187T>A (p.Trp1063Arg)
c.*2901T>A (n.*2901T>A)
c.3004T>A (p.Trp1002Arg)
c.*1487T>A (n.*1487T>A)
c.*3011T>A (n.*3011T>A)
c.2761T>A (p.Trp921Arg)
c.778T>A (p.Trp260Arg)
c.837T>A
c.1969T>A (p.Trp657Arg)
c.3097T>A (p.Trp1033Arg)
c.12T>A
c.3277T>A (p.Trp1093Arg)
c.2944T>A (p.Trp982Arg)
7g.117611628T>CCA368992001CFTRc.3187T>C (p.Trp1063Arg)
c.*2901T>C (n.*2901T>C)
c.3004T>C (p.Trp1002Arg)
c.*1487T>C (n.*1487T>C)
c.*3011T>C (n.*3011T>C)
c.2761T>C (p.Trp921Arg)
c.778T>C (p.Trp260Arg)
c.837T>C
c.1969T>C (p.Trp657Arg)
c.3097T>C (p.Trp1033Arg)
c.12T>C
c.3277T>C (p.Trp1093Arg)
c.2944T>C (p.Trp982Arg)
 gnomAD v4
7g.117611628T>GCA368992004CFTRc.3187T>G (p.Trp1063Gly)
c.*2901T>G (n.*2901T>G)
c.3004T>G (p.Trp1002Gly)
c.*1487T>G (n.*1487T>G)
c.*3011T>G (n.*3011T>G)
c.2761T>G (p.Trp921Gly)
c.778T>G (p.Trp260Gly)
c.837T>G
c.1969T>G (p.Trp657Gly)
c.3097T>G (p.Trp1033Gly)
c.12T>G
c.3277T>G (p.Trp1093Gly)
c.2944T>G (p.Trp982Gly)
7g.117611629G>ACA368992007CFTRc.3188G>A (p.Trp1063Ter)
c.*2902G>A (n.*2902G>A)
c.3005G>A (p.Trp1002Ter)
c.*1488G>A (n.*1488G>A)
c.*3012G>A (n.*3012G>A)
c.2762G>A (p.Trp921Ter)
c.779G>A (p.Trp260Ter)
c.838G>A
c.1970G>A (p.Trp657Ter)
c.3098G>A (p.Trp1033Ter)
c.13G>A
c.3278G>A (p.Trp1093Ter)
c.2945G>A (p.Trp982Ter)
 ClinVar dbSNP
7g.117611629G>CCA368992009CFTRc.3188G>C (p.Trp1063Ser)
c.*2902G>C (n.*2902G>C)
c.3005G>C (p.Trp1002Ser)
c.*1488G>C (n.*1488G>C)
c.*3012G>C (n.*3012G>C)
c.2762G>C (p.Trp921Ser)
c.779G>C (p.Trp260Ser)
c.838G>C
c.1970G>C (p.Trp657Ser)
c.3098G>C (p.Trp1033Ser)
c.13G>C
c.3278G>C (p.Trp1093Ser)
c.2945G>C (p.Trp982Ser)
7g.117611629G=CA1737386867CFTRc.3188G= (p.Trp1063=)
c.*2902G= (n.*2902G=)
c.3005G= (p.Trp1002=)
c.*1488G= (n.*1488G=)
c.*3012G= (n.*3012G=)
c.2762G= (p.Trp921=)
c.779G= (p.Trp260=)
c.838G=
c.1970G= (p.Trp657=)
c.3098G= (p.Trp1033=)
c.13G=
c.3278G= (p.Trp1093=)
c.2945G= (p.Trp982=)
7g.117611629G>TCA368992011CFTRc.3188G>T (p.Trp1063Leu)
c.*2902G>T (n.*2902G>T)
c.3005G>T (p.Trp1002Leu)
c.*1488G>T (n.*1488G>T)
c.*3012G>T (n.*3012G>T)
c.2762G>T (p.Trp921Leu)
c.779G>T (p.Trp260Leu)
c.838G>T
c.1970G>T (p.Trp657Leu)
c.3098G>T (p.Trp1033Leu)
c.13G>T
c.3278G>T (p.Trp1093Leu)
c.2945G>T (p.Trp982Leu)
7g.117611630delCA2695208433CFTRc.3189del (p.Trp1063Ter)
c.*2903del (n.*2903del)
c.3006del (p.Trp1002Ter)
c.*1489del (n.*1489del)
c.*3013del (n.*3013del)
c.2763del (p.Trp921Ter)
c.780del (p.Trp260Ter)
c.839del
c.1971del (p.Trp657Ter)
c.3099del (p.Trp1033Ter)
c.14del
c.3279del (p.Trp1093Ter)
c.2946del (p.Trp982Ter)
7g.117611630G>ACA327080CFTRc.3189G>A (p.Trp1063Ter)
c.*2903G>A (n.*2903G>A)
c.3006G>A (p.Trp1002Ter)
c.*1489G>A (n.*1489G>A)
c.*3013G>A (n.*3013G>A)
c.2763G>A (p.Trp921Ter)
c.780G>A (p.Trp260Ter)
c.839G>A
c.1971G>A (p.Trp657Ter)
c.3099G>A (p.Trp1033Ter)
c.14G>A
c.3279G>A (p.Trp1093Ter)
c.2946G>A (p.Trp982Ter)
 ClinVar dbSNP
7g.117611630G>CCA368992012CFTRc.3189G>C (p.Trp1063Cys)
c.*2903G>C (n.*2903G>C)
c.3006G>C (p.Trp1002Cys)
c.*1489G>C (n.*1489G>C)
c.*3013G>C (n.*3013G>C)
c.2763G>C (p.Trp921Cys)
c.780G>C (p.Trp260Cys)
c.839G>C
c.1971G>C (p.Trp657Cys)
c.3099G>C (p.Trp1033Cys)
c.14G>C
c.3279G>C (p.Trp1093Cys)
c.2946G>C (p.Trp982Cys)
7g.117611630G=CA1737386877CFTRc.3189G= (p.Trp1063=)
c.*2903G= (n.*2903G=)
c.3006G= (p.Trp1002=)
c.*1489G= (n.*1489G=)
c.*3013G= (n.*3013G=)
c.2763G= (p.Trp921=)
c.780G= (p.Trp260=)
c.839G=
c.1971G= (p.Trp657=)
c.3099G= (p.Trp1033=)
c.14G=
c.3279G= (p.Trp1093=)
c.2946G= (p.Trp982=)
7g.117611630G>TCA368992015CFTRc.3189G>T (p.Trp1063Cys)
c.*2903G>T (n.*2903G>T)
c.3006G>T (p.Trp1002Cys)
c.*1489G>T (n.*1489G>T)
c.*3013G>T (n.*3013G>T)
c.2763G>T (p.Trp921Cys)
c.780G>T (p.Trp260Cys)
c.839G>T
c.1971G>T (p.Trp657Cys)
c.3099G>T (p.Trp1033Cys)
c.14G>T
c.3279G>T (p.Trp1093Cys)
c.2946G>T (p.Trp982Cys)
 gnomAD v4
7g.117611631A=CA1737386881CFTRc.3190A= (p.Thr1064=)
c.*2904A= (n.*2904A=)
c.3007A= (p.Thr1003=)
c.*1490A= (n.*1490A=)
c.*3014A= (n.*3014A=)
c.2764A= (p.Thr922=)
c.781A= (p.Thr261=)
c.840A=
c.1972A= (p.Thr658=)
c.3100A= (p.Thr1034=)
c.15A=
c.3280A= (p.Thr1094=)
c.2947A= (p.Thr983=)
7g.117611631A>CCA368992017CFTRc.3190A>C (p.Thr1064Pro)
c.*2904A>C (n.*2904A>C)
c.3007A>C (p.Thr1003Pro)
c.*1490A>C (n.*1490A>C)
c.*3014A>C (n.*3014A>C)
c.2764A>C (p.Thr922Pro)
c.781A>C (p.Thr261Pro)
c.840A>C
c.1972A>C (p.Thr658Pro)
c.3100A>C (p.Thr1034Pro)
c.15A>C
c.3280A>C (p.Thr1094Pro)
c.2947A>C (p.Thr983Pro)
7g.117611631A>GCA368992019CFTRc.3190A>G (p.Thr1064Ala)
c.*2904A>G (n.*2904A>G)
c.3007A>G (p.Thr1003Ala)
c.*1490A>G (n.*1490A>G)
c.*3014A>G (n.*3014A>G)
c.2764A>G (p.Thr922Ala)
c.781A>G (p.Thr261Ala)
c.840A>G
c.1972A>G (p.Thr658Ala)
c.3100A>G (p.Thr1034Ala)
c.15A>G
c.3280A>G (p.Thr1094Ala)
c.2947A>G (p.Thr983Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611631A>TCA368992021CFTRc.3190A>T (p.Thr1064Ser)
c.*2904A>T (n.*2904A>T)
c.3007A>T (p.Thr1003Ser)
c.*1490A>T (n.*1490A>T)
c.*3014A>T (n.*3014A>T)
c.2764A>T (p.Thr922Ser)
c.781A>T (p.Thr261Ser)
c.840A>T
c.1972A>T (p.Thr658Ser)
c.3100A>T (p.Thr1034Ser)
c.15A>T
c.3280A>T (p.Thr1094Ser)
c.2947A>T (p.Thr983Ser)
7g.117611633_117611717delCA2697557585CFTRc.3192_3276del (p.Leu1065CysfsTer9)
c.*2906_*2990del (n.*2906_*2990del)
c.3009_3093del (p.Leu1004CysfsTer9)
c.*1492_*1576del (n.*1492_*1576del)
c.*3016_*3100del (n.*3016_*3100del)
c.2766_2850del (p.Leu923CysfsTer9)
c.783_867del (p.Leu262CysfsTer9)
c.842_926del
c.1974_2058del (p.Leu659CysfsTer9)
c.3102_3186del (p.Leu1035CysfsTer9)
c.17_101del
c.3282_3366del (p.Leu1095CysfsTer9)
c.2949_3033del (p.Leu984CysfsTer9)
 ClinVar
7g.117611632C>ACA368992027CFTRc.3191C>A (p.Thr1064Lys)
c.*2905C>A (n.*2905C>A)
c.3008C>A (p.Thr1003Lys)
c.*1491C>A (n.*1491C>A)
c.*3015C>A (n.*3015C>A)
c.2765C>A (p.Thr922Lys)
c.782C>A (p.Thr261Lys)
c.841C>A
c.1973C>A (p.Thr658Lys)
c.3101C>A (p.Thr1034Lys)
c.16C>A
c.3281C>A (p.Thr1094Lys)
c.2948C>A (p.Thr983Lys)
7g.117611632C=CA1737386885CFTRc.3191C= (p.Thr1064=)
c.*2905C= (n.*2905C=)
c.3008C= (p.Thr1003=)
c.*1491C= (n.*1491C=)
c.*3015C= (n.*3015C=)
c.2765C= (p.Thr922=)
c.782C= (p.Thr261=)
c.841C=
c.1973C= (p.Thr658=)
c.3101C= (p.Thr1034=)
c.16C=
c.3281C= (p.Thr1094=)
c.2948C= (p.Thr983=)
7g.117611632C>GCA368992024CFTRc.3191C>G (p.Thr1064Arg)
c.*2905C>G (n.*2905C>G)
c.3008C>G (p.Thr1003Arg)
c.*1491C>G (n.*1491C>G)
c.*3015C>G (n.*3015C>G)
c.2765C>G (p.Thr922Arg)
c.782C>G (p.Thr261Arg)
c.841C>G
c.1973C>G (p.Thr658Arg)
c.3101C>G (p.Thr1034Arg)
c.16C>G
c.3281C>G (p.Thr1094Arg)
c.2948C>G (p.Thr983Arg)
7g.117611632C>TCA368992026CFTRc.3191C>T (p.Thr1064Ile)
c.*2905C>T (n.*2905C>T)
c.3008C>T (p.Thr1003Ile)
c.*1491C>T (n.*1491C>T)
c.*3015C>T (n.*3015C>T)
c.2765C>T (p.Thr922Ile)
c.782C>T (p.Thr261Ile)
c.841C>T
c.1973C>T (p.Thr658Ile)
c.3101C>T (p.Thr1034Ile)
c.16C>T
c.3281C>T (p.Thr1094Ile)
c.2948C>T (p.Thr983Ile)
7g.117611632_117611633insTTTTAAGCTTAAAAGGCA915945437CFTRc.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065PhefsTer16)
c.*2905_*2906insTTTTAAGCTTAAAAGG (n.*2905_*2906insTTTTAAGCTTAAAAGG)
c.3008_3009insTTTTAAGCTTAAAAGG (p.Leu1004PhefsTer16)
c.*1491_*1492insTTTTAAGCTTAAAAGG (n.*1491_*1492insTTTTAAGCTTAAAAGG)
c.*3015_*3016insTTTTAAGCTTAAAAGG (n.*3015_*3016insTTTTAAGCTTAAAAGG)
c.2765_2766insTTTTAAGCTTAAAAGG (p.Leu923PhefsTer16)
c.782_783insTTTTAAGCTTAAAAGG (p.Leu262PhefsTer16)
c.841_842insTTTTAAGCTTAAAAGG
c.1973_1974insTTTTAAGCTTAAAAGG (p.Leu659PhefsTer16)
c.3101_3102insTTTTAAGCTTAAAAGG (p.Leu1035PhefsTer16)
c.16_17insTTTTAAGCTTAAAAGG
c.3281_3282insTTTTAAGCTTAAAAGG (p.Leu1095PhefsTer16)
c.2948_2949insTTTTAAGCTTAAAAGG (p.Leu984PhefsTer16)
 ClinVar dbSNP
7g.117611633A=CA1737386889CFTRc.3192A= (p.Thr1064=)
c.*2906A= (n.*2906A=)
c.3009A= (p.Thr1003=)
c.*1492A= (n.*1492A=)
c.*3016A= (n.*3016A=)
c.2766A= (p.Thr922=)
c.783A= (p.Thr261=)
c.842A=
c.1974A= (p.Thr658=)
c.3102A= (p.Thr1034=)
c.17A=
c.3282A= (p.Thr1094=)
c.2949A= (p.Thr983=)
7g.117611633A>CCA457230001CFTRc.3192A>C (p.Thr1064=)
c.*2906A>C (n.*2906A>C)
c.3009A>C (p.Thr1003=)
c.*1492A>C (n.*1492A>C)
c.*3016A>C (n.*3016A>C)
c.2766A>C (p.Thr922=)
c.783A>C (p.Thr261=)
c.842A>C
c.1974A>C (p.Thr658=)
c.3102A>C (p.Thr1034=)
c.17A>C
c.3282A>C (p.Thr1094=)
c.2949A>C (p.Thr983=)
 dbSNP
7g.117611633A>GCA457230002CFTRc.3192A>G (p.Thr1064=)
c.*2906A>G (n.*2906A>G)
c.3009A>G (p.Thr1003=)
c.*1492A>G (n.*1492A>G)
c.*3016A>G (n.*3016A>G)
c.2766A>G (p.Thr922=)
c.783A>G (p.Thr261=)
c.842A>G
c.1974A>G (p.Thr658=)
c.3102A>G (p.Thr1034=)
c.17A>G
c.3282A>G (p.Thr1094=)
c.2949A>G (p.Thr983=)
 dbSNP gnomAD v4
7g.117611633A>TCA457230003CFTRc.3192A>T (p.Thr1064=)
c.*2906A>T (n.*2906A>T)
c.3009A>T (p.Thr1003=)
c.*1492A>T (n.*1492A>T)
c.*3016A>T (n.*3016A>T)
c.2766A>T (p.Thr922=)
c.783A>T (p.Thr261=)
c.842A>T
c.1974A>T (p.Thr658=)
c.3102A>T (p.Thr1034=)
c.17A>T
c.3282A>T (p.Thr1094=)
c.2949A>T (p.Thr983=)
 ClinVar gnomAD v4
7g.117611634C>ACA368992030CFTRc.3193C>A (p.Leu1065Ile)
c.*2907C>A (n.*2907C>A)
c.3010C>A (p.Leu1004Ile)
c.*1493C>A (n.*1493C>A)
c.*3017C>A (n.*3017C>A)
c.2767C>A (p.Leu923Ile)
c.784C>A (p.Leu262Ile)
c.843C>A
c.1975C>A (p.Leu659Ile)
c.3103C>A (p.Leu1035Ile)
c.18C>A
c.3283C>A (p.Leu1095Ile)
c.2950C>A (p.Leu984Ile)
7g.117611634C=CA1737386896CFTRc.3193C= (p.Leu1065=)
c.*2907C= (n.*2907C=)
c.3010C= (p.Leu1004=)
c.*1493C= (n.*1493C=)
c.*3017C= (n.*3017C=)
c.2767C= (p.Leu923=)
c.784C= (p.Leu262=)
c.843C=
c.1975C= (p.Leu659=)
c.3103C= (p.Leu1035=)
c.18C=
c.3283C= (p.Leu1095=)
c.2950C= (p.Leu984=)
7g.117611634C>GCA368992032CFTRc.3193C>G (p.Leu1065Val)
c.*2907C>G (n.*2907C>G)
c.3010C>G (p.Leu1004Val)
c.*1493C>G (n.*1493C>G)
c.*3017C>G (n.*3017C>G)
c.2767C>G (p.Leu923Val)
c.784C>G (p.Leu262Val)
c.843C>G
c.1975C>G (p.Leu659Val)
c.3103C>G (p.Leu1035Val)
c.18C>G
c.3283C>G (p.Leu1095Val)
c.2950C>G (p.Leu984Val)
7g.117611634C>TCA327082CFTRc.3193C>T (p.Leu1065Phe)
c.*2907C>T (n.*2907C>T)
c.3010C>T (p.Leu1004Phe)
c.*1493C>T (n.*1493C>T)
c.*3017C>T (n.*3017C>T)
c.2767C>T (p.Leu923Phe)
c.784C>T (p.Leu262Phe)
c.843C>T
c.1975C>T (p.Leu659Phe)
c.3103C>T (p.Leu1035Phe)
c.18C>T
c.3283C>T (p.Leu1095Phe)
c.2950C>T (p.Leu984Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.117611635T>ACA368992036CFTRc.3194T>A (p.Leu1065His)
c.*2908T>A (n.*2908T>A)
c.3011T>A (p.Leu1004His)
c.*1494T>A (n.*1494T>A)
c.*3018T>A (n.*3018T>A)
c.2768T>A (p.Leu923His)
c.785T>A (p.Leu262His)
c.844T>A
c.1976T>A (p.Leu659His)
c.3104T>A (p.Leu1035His)
c.19T>A
c.3284T>A (p.Leu1095His)
c.2951T>A (p.Leu984His)
7g.117611635T>CCA325596CFTRc.3194T>C (p.Leu1065Pro)
c.*2908T>C (n.*2908T>C)
c.3011T>C (p.Leu1004Pro)
c.*1494T>C (n.*1494T>C)
c.*3018T>C (n.*3018T>C)
c.2768T>C (p.Leu923Pro)
c.785T>C (p.Leu262Pro)
c.844T>C
c.1976T>C (p.Leu659Pro)
c.3104T>C (p.Leu1035Pro)
c.19T>C
c.3284T>C (p.Leu1095Pro)
c.2951T>C (p.Leu984Pro)
 ClinVar dbSNP gnomAD v4
7g.117611635T>GCA327084CFTRc.3194T>G (p.Leu1065Arg)
c.*2908T>G (n.*2908T>G)
c.3011T>G (p.Leu1004Arg)
c.*1494T>G (n.*1494T>G)
c.*3018T>G (n.*3018T>G)
c.2768T>G (p.Leu923Arg)
c.785T>G (p.Leu262Arg)
c.844T>G
c.1976T>G (p.Leu659Arg)
c.3104T>G (p.Leu1035Arg)
c.19T>G
c.3284T>G (p.Leu1095Arg)
c.2951T>G (p.Leu984Arg)
 ClinVar dbSNP
7g.117611635T=CA1737386915CFTRc.3194T= (p.Leu1065=)
c.*2908T= (n.*2908T=)
c.3011T= (p.Leu1004=)
c.*1494T= (n.*1494T=)
c.*3018T= (n.*3018T=)
c.2768T= (p.Leu923=)
c.785T= (p.Leu262=)
c.844T=
c.1976T= (p.Leu659=)
c.3104T= (p.Leu1035=)
c.19T=
c.3284T= (p.Leu1095=)
c.2951T= (p.Leu984=)
7g.117611636T>ACA457230004CFTRc.3195T>A (p.Leu1065=)
c.*2909T>A (n.*2909T>A)
c.3012T>A (p.Leu1004=)
c.*1495T>A (n.*1495T>A)
c.*3019T>A (n.*3019T>A)
c.2769T>A (p.Leu923=)
c.786T>A (p.Leu262=)
c.845T>A
c.1977T>A (p.Leu659=)
c.3105T>A (p.Leu1035=)
c.20T>A
c.3285T>A (p.Leu1095=)
c.2952T>A (p.Leu984=)
7g.117611636T>CCA457230005CFTRc.3195T>C (p.Leu1065=)
c.*2909T>C (n.*2909T>C)
c.3012T>C (p.Leu1004=)
c.*1495T>C (n.*1495T>C)
c.*3019T>C (n.*3019T>C)
c.2769T>C (p.Leu923=)
c.786T>C (p.Leu262=)
c.845T>C
c.1977T>C (p.Leu659=)
c.3105T>C (p.Leu1035=)
c.20T>C
c.3285T>C (p.Leu1095=)
c.2952T>C (p.Leu984=)
7g.117611636T>GCA457230006CFTRc.3195T>G (p.Leu1065=)
c.*2909T>G (n.*2909T>G)
c.3012T>G (p.Leu1004=)
c.*1495T>G (n.*1495T>G)
c.*3019T>G (n.*3019T>G)
c.2769T>G (p.Leu923=)
c.786T>G (p.Leu262=)
c.845T>G
c.1977T>G (p.Leu659=)
c.3105T>G (p.Leu1035=)
c.20T>G
c.3285T>G (p.Leu1095=)
c.2952T>G (p.Leu984=)
 gnomAD v4
7g.117611637C>ACA327085CFTRc.3196C>A (p.Arg1066Ser)
c.*2910C>A (n.*2910C>A)
c.3013C>A (p.Arg1005Ser)
c.*1496C>A (n.*1496C>A)
c.*3020C>A (n.*3020C>A)
c.2770C>A (p.Arg924Ser)
c.787C>A (p.Arg263Ser)
c.846C>A
c.1978C>A (p.Arg660Ser)
c.3106C>A (p.Arg1036Ser)
c.21C>A
c.3286C>A (p.Arg1096Ser)
c.2953C>A (p.Arg985Ser)
 ClinVar dbSNP
7g.117611637C=CA1737386931CFTRc.3196C= (p.Arg1066=)
c.*2910C= (n.*2910C=)
c.3013C= (p.Arg1005=)
c.*1496C= (n.*1496C=)
c.*3020C= (n.*3020C=)
c.2770C= (p.Arg924=)
c.787C= (p.Arg263=)
c.846C=
c.1978C= (p.Arg660=)
c.3106C= (p.Arg1036=)
c.21C=
c.3286C= (p.Arg1096=)
c.2953C= (p.Arg985=)
7g.117611637C>GCA368992041CFTRc.3196C>G (p.Arg1066Gly)
c.*2910C>G (n.*2910C>G)
c.3013C>G (p.Arg1005Gly)
c.*1496C>G (n.*1496C>G)
c.*3020C>G (n.*3020C>G)
c.2770C>G (p.Arg924Gly)
c.787C>G (p.Arg263Gly)
c.846C>G
c.1978C>G (p.Arg660Gly)
c.3106C>G (p.Arg1036Gly)
c.21C>G
c.3286C>G (p.Arg1096Gly)
c.2953C>G (p.Arg985Gly)
7g.117611637C>TCA325558CFTRc.3196C>T (p.Arg1066Cys)
c.*2910C>T (n.*2910C>T)
c.3013C>T (p.Arg1005Cys)
c.*1496C>T (n.*1496C>T)
c.*3020C>T (n.*3020C>T)
c.2770C>T (p.Arg924Cys)
c.787C>T (p.Arg263Cys)
c.846C>T
c.1978C>T (p.Arg660Cys)
c.3106C>T (p.Arg1036Cys)
c.21C>T
c.3286C>T (p.Arg1096Cys)
c.2953C>T (p.Arg985Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611638G>ACA325555CFTRc.3197G>A (p.Arg1066His)
c.*2911G>A (n.*2911G>A)
c.3014G>A (p.Arg1005His)
c.*1497G>A (n.*1497G>A)
c.*3021G>A (n.*3021G>A)
c.2771G>A (p.Arg924His)
c.788G>A (p.Arg263His)
c.847G>A
c.1979G>A (p.Arg660His)
c.3107G>A (p.Arg1036His)
c.22G>A
c.3287G>A (p.Arg1096His)
c.2954G>A (p.Arg985His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611638G>CCA368992046CFTRc.3197G>C (p.Arg1066Pro)
c.*2911G>C (n.*2911G>C)
c.3014G>C (p.Arg1005Pro)
c.*1497G>C (n.*1497G>C)
c.*3021G>C (n.*3021G>C)
c.2771G>C (p.Arg924Pro)
c.788G>C (p.Arg263Pro)
c.847G>C
c.1979G>C (p.Arg660Pro)
c.3107G>C (p.Arg1036Pro)
c.22G>C
c.3287G>C (p.Arg1096Pro)
c.2954G>C (p.Arg985Pro)
7g.117611638G=CA1737386939CFTRc.3197G= (p.Arg1066=)
c.*2911G= (n.*2911G=)
c.3014G= (p.Arg1005=)
c.*1497G= (n.*1497G=)
c.*3021G= (n.*3021G=)
c.2771G= (p.Arg924=)
c.788G= (p.Arg263=)
c.847G=
c.1979G= (p.Arg660=)
c.3107G= (p.Arg1036=)
c.22G=
c.3287G= (p.Arg1096=)
c.2954G= (p.Arg985=)
7g.117611638G>TCA327087CFTRc.3197G>T (p.Arg1066Leu)
c.*2911G>T (n.*2911G>T)
c.3014G>T (p.Arg1005Leu)
c.*1497G>T (n.*1497G>T)
c.*3021G>T (n.*3021G>T)
c.2771G>T (p.Arg924Leu)
c.788G>T (p.Arg263Leu)
c.847G>T
c.1979G>T (p.Arg660Leu)
c.3107G>T (p.Arg1036Leu)
c.22G>T
c.3287G>T (p.Arg1096Leu)
c.2954G>T (p.Arg985Leu)
 ClinVar dbSNP
7g.117611639T>ACA457230007CFTRc.3198T>A (p.Arg1066=)
c.*2912T>A (n.*2912T>A)
c.3015T>A (p.Arg1005=)
c.*1498T>A (n.*1498T>A)
c.*3022T>A (n.*3022T>A)
c.2772T>A (p.Arg924=)
c.789T>A (p.Arg263=)
c.848T>A
c.1980T>A (p.Arg660=)
c.3108T>A (p.Arg1036=)
c.23T>A
c.3288T>A (p.Arg1096=)
c.2955T>A (p.Arg985=)
 dbSNP
7g.117611639T>CCA457230008CFTRc.3198T>C (p.Arg1066=)
c.*2912T>C (n.*2912T>C)
c.3015T>C (p.Arg1005=)
c.*1498T>C (n.*1498T>C)
c.*3022T>C (n.*3022T>C)
c.2772T>C (p.Arg924=)
c.789T>C (p.Arg263=)
c.848T>C
c.1980T>C (p.Arg660=)
c.3108T>C (p.Arg1036=)
c.23T>C
c.3288T>C (p.Arg1096=)
c.2955T>C (p.Arg985=)
 gnomAD v4
7g.117611639T>GCA457230009CFTRc.3198T>G (p.Arg1066=)
c.*2912T>G (n.*2912T>G)
c.3015T>G (p.Arg1005=)
c.*1498T>G (n.*1498T>G)
c.*3022T>G (n.*3022T>G)
c.2772T>G (p.Arg924=)
c.789T>G (p.Arg263=)
c.848T>G
c.1980T>G (p.Arg660=)
c.3108T>G (p.Arg1036=)
c.23T>G
c.3288T>G (p.Arg1096=)
c.2955T>G (p.Arg985=)
7g.117611639T=CA1737386945CFTRc.3198T= (p.Arg1066=)
c.*2912T= (n.*2912T=)
c.3015T= (p.Arg1005=)
c.*1498T= (n.*1498T=)
c.*3022T= (n.*3022T=)
c.2772T= (p.Arg924=)
c.789T= (p.Arg263=)
c.848T=
c.1980T= (p.Arg660=)
c.3108T= (p.Arg1036=)
c.23T=
c.3288T= (p.Arg1096=)
c.2955T= (p.Arg985=)
7g.117611640G>ACA221024CFTRc.3199G>A (p.Ala1067Thr)
c.*2913G>A (n.*2913G>A)
c.3016G>A (p.Ala1006Thr)
c.*1499G>A (n.*1499G>A)
c.*3023G>A (n.*3023G>A)
c.2773G>A (p.Ala925Thr)
c.790G>A (p.Ala264Thr)
c.849G>A
c.1981G>A (p.Ala661Thr)
c.3109G>A (p.Ala1037Thr)
c.24G>A
c.3289G>A (p.Ala1097Thr)
c.2956G>A (p.Ala986Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611640G>CCA327088CFTRc.3199G>C (p.Ala1067Pro)
c.*2913G>C (n.*2913G>C)
c.3016G>C (p.Ala1006Pro)
c.*1499G>C (n.*1499G>C)
c.*3023G>C (n.*3023G>C)
c.2773G>C (p.Ala925Pro)
c.790G>C (p.Ala264Pro)
c.849G>C
c.1981G>C (p.Ala661Pro)
c.3109G>C (p.Ala1037Pro)
c.24G>C
c.3289G>C (p.Ala1097Pro)
c.2956G>C (p.Ala986Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611640G=CA1737386955CFTRc.3199G= (p.Ala1067=)
c.*2913G= (n.*2913G=)
c.3016G= (p.Ala1006=)
c.*1499G= (n.*1499G=)
c.*3023G= (n.*3023G=)
c.2773G= (p.Ala925=)
c.790G= (p.Ala264=)
c.849G=
c.1981G= (p.Ala661=)
c.3109G= (p.Ala1037=)
c.24G=
c.3289G= (p.Ala1097=)
c.2956G= (p.Ala986=)
7g.117611640G>TCA368992049CFTRc.3199G>T (p.Ala1067Ser)
c.*2913G>T (n.*2913G>T)
c.3016G>T (p.Ala1006Ser)
c.*1499G>T (n.*1499G>T)
c.*3023G>T (n.*3023G>T)
c.2773G>T (p.Ala925Ser)
c.790G>T (p.Ala264Ser)
c.849G>T
c.1981G>T (p.Ala661Ser)
c.3109G>T (p.Ala1037Ser)
c.24G>T
c.3289G>T (p.Ala1097Ser)
c.2956G>T (p.Ala986Ser)
7g.117611641C>ACA327091CFTRc.3200C>A (p.Ala1067Asp)
c.*2914C>A (n.*2914C>A)
c.3017C>A (p.Ala1006Asp)
c.*1500C>A (n.*1500C>A)
c.*3024C>A (n.*3024C>A)
c.2774C>A (p.Ala925Asp)
c.791C>A (p.Ala264Asp)
c.850C>A
c.1982C>A (p.Ala661Asp)
c.3110C>A (p.Ala1037Asp)
c.25C>A
c.3290C>A (p.Ala1097Asp)
c.2957C>A (p.Ala986Asp)
 dbSNP gnomAD v4
7g.117611641C=CA1737386970CFTRc.3200C= (p.Ala1067=)
c.*2914C= (n.*2914C=)
c.3017C= (p.Ala1006=)
c.*1500C= (n.*1500C=)
c.*3024C= (n.*3024C=)
c.2774C= (p.Ala925=)
c.791C= (p.Ala264=)
c.850C=
c.1982C= (p.Ala661=)
c.3110C= (p.Ala1037=)
c.25C=
c.3290C= (p.Ala1097=)
c.2957C= (p.Ala986=)
7g.117611641C>GCA327093CFTRc.3200C>G (p.Ala1067Gly)
c.*2914C>G (n.*2914C>G)
c.3017C>G (p.Ala1006Gly)
c.*1500C>G (n.*1500C>G)
c.*3024C>G (n.*3024C>G)
c.2774C>G (p.Ala925Gly)
c.791C>G (p.Ala264Gly)
c.850C>G
c.1982C>G (p.Ala661Gly)
c.3110C>G (p.Ala1037Gly)
c.25C>G
c.3290C>G (p.Ala1097Gly)
c.2957C>G (p.Ala986Gly)
 ClinVar dbSNP gnomAD v4
7g.117611641C>TCA327095CFTRc.3200C>T (p.Ala1067Val)
c.*2914C>T (n.*2914C>T)
c.3017C>T (p.Ala1006Val)
c.*1500C>T (n.*1500C>T)
c.*3024C>T (n.*3024C>T)
c.2774C>T (p.Ala925Val)
c.791C>T (p.Ala264Val)
c.850C>T
c.1982C>T (p.Ala661Val)
c.3110C>T (p.Ala1037Val)
c.25C>T
c.3290C>T (p.Ala1097Val)
c.2957C>T (p.Ala986Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611642C>ACA457230010CFTRc.3201C>A (p.Ala1067=)
c.*2915C>A (n.*2915C>A)
c.3018C>A (p.Ala1006=)
c.*1501C>A (n.*1501C>A)
c.*3025C>A (n.*3025C>A)
c.2775C>A (p.Ala925=)
c.792C>A (p.Ala264=)
c.851C>A
c.1983C>A (p.Ala661=)
c.3111C>A (p.Ala1037=)
c.26C>A
c.3291C>A (p.Ala1097=)
c.2958C>A (p.Ala986=)
7g.117611642C=CA1737386979CFTRc.3201C= (p.Ala1067=)
c.*2915C= (n.*2915C=)
c.3018C= (p.Ala1006=)
c.*1501C= (n.*1501C=)
c.*3025C= (n.*3025C=)
c.2775C= (p.Ala925=)
c.792C= (p.Ala264=)
c.851C=
c.1983C= (p.Ala661=)
c.3111C= (p.Ala1037=)
c.26C=
c.3291C= (p.Ala1097=)
c.2958C= (p.Ala986=)
7g.117611642C>GCA457230011CFTRc.3201C>G (p.Ala1067=)
c.*2915C>G (n.*2915C>G)
c.3018C>G (p.Ala1006=)
c.*1501C>G (n.*1501C>G)
c.*3025C>G (n.*3025C>G)
c.2775C>G (p.Ala925=)
c.792C>G (p.Ala264=)
c.851C>G
c.1983C>G (p.Ala661=)
c.3111C>G (p.Ala1037=)
c.26C>G
c.3291C>G (p.Ala1097=)
c.2958C>G (p.Ala986=)
7g.117611642C>TCA4451407CFTRc.3201C>T (p.Ala1067=)
c.*2915C>T (n.*2915C>T)
c.3018C>T (p.Ala1006=)
c.*1501C>T (n.*1501C>T)
c.*3025C>T (n.*3025C>T)
c.2775C>T (p.Ala925=)
c.792C>T (p.Ala264=)
c.851C>T
c.1983C>T (p.Ala661=)
c.3111C>T (p.Ala1037=)
c.26C>T
c.3291C>T (p.Ala1097=)
c.2958C>T (p.Ala986=)
 dbSNP ExAC
7g.117611643T>ACA368992061CFTRc.3202T>A (p.Phe1068Ile)
c.*2916T>A (n.*2916T>A)
c.3019T>A (p.Phe1007Ile)
c.*1502T>A (n.*1502T>A)
c.*3026T>A (n.*3026T>A)
c.2776T>A (p.Phe926Ile)
c.793T>A (p.Phe265Ile)
c.852T>A
c.1984T>A (p.Phe662Ile)
c.3112T>A (p.Phe1038Ile)
c.27T>A
c.3292T>A (p.Phe1098Ile)
c.2959T>A (p.Phe987Ile)
7g.117611643T>CCA368992063CFTRc.3202T>C (p.Phe1068Leu)
c.*2916T>C (n.*2916T>C)
c.3019T>C (p.Phe1007Leu)
c.*1502T>C (n.*1502T>C)
c.*3026T>C (n.*3026T>C)
c.2776T>C (p.Phe926Leu)
c.793T>C (p.Phe265Leu)
c.852T>C
c.1984T>C (p.Phe662Leu)
c.3112T>C (p.Phe1038Leu)
c.27T>C
c.3292T>C (p.Phe1098Leu)
c.2959T>C (p.Phe987Leu)
7g.117611643T>GCA368992066CFTRc.3202T>G (p.Phe1068Val)
c.*2916T>G (n.*2916T>G)
c.3019T>G (p.Phe1007Val)
c.*1502T>G (n.*1502T>G)
c.*3026T>G (n.*3026T>G)
c.2776T>G (p.Phe926Val)
c.793T>G (p.Phe265Val)
c.852T>G
c.1984T>G (p.Phe662Val)
c.3112T>G (p.Phe1038Val)
c.27T>G
c.3292T>G (p.Phe1098Val)
c.2959T>G (p.Phe987Val)
 ClinVar gnomAD v4
7g.117611644T>ACA368992073CFTRc.3203T>A (p.Phe1068Tyr)
c.*2917T>A (n.*2917T>A)
c.3020T>A (p.Phe1007Tyr)
c.*1503T>A (n.*1503T>A)
c.*3027T>A (n.*3027T>A)
c.2777T>A (p.Phe926Tyr)
c.794T>A (p.Phe265Tyr)
c.853T>A
c.1985T>A (p.Phe662Tyr)
c.3113T>A (p.Phe1038Tyr)
c.28T>A
c.3293T>A (p.Phe1098Tyr)
c.2960T>A (p.Phe987Tyr)
7g.117611644T>CCA368992075CFTRc.3203T>C (p.Phe1068Ser)
c.*2917T>C (n.*2917T>C)
c.3020T>C (p.Phe1007Ser)
c.*1503T>C (n.*1503T>C)
c.*3027T>C (n.*3027T>C)
c.2777T>C (p.Phe926Ser)
c.794T>C (p.Phe265Ser)
c.853T>C
c.1985T>C (p.Phe662Ser)
c.3113T>C (p.Phe1038Ser)
c.28T>C
c.3293T>C (p.Phe1098Ser)
c.2960T>C (p.Phe987Ser)
7g.117611644T>GCA368992077CFTRc.3203T>G (p.Phe1068Cys)
c.*2917T>G (n.*2917T>G)
c.3020T>G (p.Phe1007Cys)
c.*1503T>G (n.*1503T>G)
c.*3027T>G (n.*3027T>G)
c.2777T>G (p.Phe926Cys)
c.794T>G (p.Phe265Cys)
c.853T>G
c.1985T>G (p.Phe662Cys)
c.3113T>G (p.Phe1038Cys)
c.28T>G
c.3293T>G (p.Phe1098Cys)
c.2960T>G (p.Phe987Cys)
7g.117611645C>ACA368992079CFTRc.3204C>A (p.Phe1068Leu)
c.*2918C>A (n.*2918C>A)
c.3021C>A (p.Phe1007Leu)
c.*1504C>A (n.*1504C>A)
c.*3028C>A (n.*3028C>A)
c.2778C>A (p.Phe926Leu)
c.795C>A (p.Phe265Leu)
c.854C>A
c.1986C>A (p.Phe662Leu)
c.3114C>A (p.Phe1038Leu)
c.29C>A
c.3294C>A (p.Phe1098Leu)
c.2961C>A (p.Phe987Leu)
 dbSNP
7g.117611645C=CA1737386989CFTRc.3204C= (p.Phe1068=)
c.*2918C= (n.*2918C=)
c.3021C= (p.Phe1007=)
c.*1504C= (n.*1504C=)
c.*3028C= (n.*3028C=)
c.2778C= (p.Phe926=)
c.795C= (p.Phe265=)
c.854C=
c.1986C= (p.Phe662=)
c.3114C= (p.Phe1038=)
c.29C=
c.3294C= (p.Phe1098=)
c.2961C= (p.Phe987=)
7g.117611645C>GCA368992081CFTRc.3204C>G (p.Phe1068Leu)
c.*2918C>G (n.*2918C>G)
c.3021C>G (p.Phe1007Leu)
c.*1504C>G (n.*1504C>G)
c.*3028C>G (n.*3028C>G)
c.2778C>G (p.Phe926Leu)
c.795C>G (p.Phe265Leu)
c.854C>G
c.1986C>G (p.Phe662Leu)
c.3114C>G (p.Phe1038Leu)
c.29C>G
c.3294C>G (p.Phe1098Leu)
c.2961C>G (p.Phe987Leu)
7g.117611645C>TCA4451408CFTRc.3204C>T (p.Phe1068=)
c.*2918C>T (n.*2918C>T)
c.3021C>T (p.Phe1007=)
c.*1504C>T (n.*1504C>T)
c.*3028C>T (n.*3028C>T)
c.2778C>T (p.Phe926=)
c.795C>T (p.Phe265=)
c.854C>T
c.1986C>T (p.Phe662=)
c.3114C>T (p.Phe1038=)
c.29C>T
c.3294C>T (p.Phe1098=)
c.2961C>T (p.Phe987=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611646G>ACA327097CFTRc.3205G>A (p.Gly1069Arg)
c.*2919G>A (n.*2919G>A)
c.3022G>A (p.Gly1008Arg)
c.*1505G>A (n.*1505G>A)
c.*3029G>A (n.*3029G>A)
c.2779G>A (p.Gly927Arg)
c.796G>A (p.Gly266Arg)
c.855G>A
c.1987G>A (p.Gly663Arg)
c.3115G>A (p.Gly1039Arg)
c.30G>A
c.3295G>A (p.Gly1099Arg)
c.2962G>A (p.Gly988Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611646G>CCA368992085CFTRc.3205G>C (p.Gly1069Arg)
c.*2919G>C (n.*2919G>C)
c.3022G>C (p.Gly1008Arg)
c.*1505G>C (n.*1505G>C)
c.*3029G>C (n.*3029G>C)
c.2779G>C (p.Gly927Arg)
c.796G>C (p.Gly266Arg)
c.855G>C
c.1987G>C (p.Gly663Arg)
c.3115G>C (p.Gly1039Arg)
c.30G>C
c.3295G>C (p.Gly1099Arg)
c.2962G>C (p.Gly988Arg)
7g.117611646G=CA1737386994CFTRc.3205G= (p.Gly1069=)
c.*2919G= (n.*2919G=)
c.3022G= (p.Gly1008=)
c.*1505G= (n.*1505G=)
c.*3029G= (n.*3029G=)
c.2779G= (p.Gly927=)
c.796G= (p.Gly266=)
c.855G=
c.1987G= (p.Gly663=)
c.3115G= (p.Gly1039=)
c.30G=
c.3295G= (p.Gly1099=)
c.2962G= (p.Gly988=)
7g.117611646G>TCA368992084CFTRc.3205G>T (p.Gly1069Ter)
c.*2919G>T (n.*2919G>T)
c.3022G>T (p.Gly1008Ter)
c.*1505G>T (n.*1505G>T)
c.*3029G>T (n.*3029G>T)
c.2779G>T (p.Gly927Ter)
c.796G>T (p.Gly266Ter)
c.855G>T
c.1987G>T (p.Gly663Ter)
c.3115G>T (p.Gly1039Ter)
c.30G>T
c.3295G>T (p.Gly1099Ter)
c.2962G>T (p.Gly988Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.117611647G>ACA368992086CFTRc.3206G>A (p.Gly1069Glu)
c.*2920G>A (n.*2920G>A)
c.3023G>A (p.Gly1008Glu)
c.*1506G>A (n.*1506G>A)
c.*3030G>A (n.*3030G>A)
c.2780G>A (p.Gly927Glu)
c.797G>A (p.Gly266Glu)
c.856G>A
c.1988G>A (p.Gly663Glu)
c.3116G>A (p.Gly1039Glu)
c.31G>A
c.3296G>A (p.Gly1099Glu)
c.2963G>A (p.Gly988Glu)
7g.117611647G>CCA368992087CFTRc.3206G>C (p.Gly1069Ala)
c.*2920G>C (n.*2920G>C)
c.3023G>C (p.Gly1008Ala)
c.*1506G>C (n.*1506G>C)
c.*3030G>C (n.*3030G>C)
c.2780G>C (p.Gly927Ala)
c.797G>C (p.Gly266Ala)
c.856G>C
c.1988G>C (p.Gly663Ala)
c.3116G>C (p.Gly1039Ala)
c.31G>C
c.3296G>C (p.Gly1099Ala)
c.2963G>C (p.Gly988Ala)
7g.117611647G>TCA368992088CFTRc.3206G>T (p.Gly1069Val)
c.*2920G>T (n.*2920G>T)
c.3023G>T (p.Gly1008Val)
c.*1506G>T (n.*1506G>T)
c.*3030G>T (n.*3030G>T)
c.2780G>T (p.Gly927Val)
c.797G>T (p.Gly266Val)
c.856G>T
c.1988G>T (p.Gly663Val)
c.3116G>T (p.Gly1039Val)
c.31G>T
c.3296G>T (p.Gly1099Val)
c.2963G>T (p.Gly988Val)
 gnomAD v4
7g.117611648A=CA1737386999CFTRc.3207A= (p.Gly1069=)
c.*2921A= (n.*2921A=)
c.3024A= (p.Gly1008=)
c.*1507A= (n.*1507A=)
c.*3031A= (n.*3031A=)
c.2781A= (p.Gly927=)
c.798A= (p.Gly266=)
c.857A=
c.1989A= (p.Gly663=)
c.3117A= (p.Gly1039=)
c.32A=
c.3297A= (p.Gly1099=)
c.2964A= (p.Gly988=)
7g.117611648A>CCA457230012CFTRc.3207A>C (p.Gly1069=)
c.*2921A>C (n.*2921A>C)
c.3024A>C (p.Gly1008=)
c.*1507A>C (n.*1507A>C)
c.*3031A>C (n.*3031A>C)
c.2781A>C (p.Gly927=)
c.798A>C (p.Gly266=)
c.857A>C
c.1989A>C (p.Gly663=)
c.3117A>C (p.Gly1039=)
c.32A>C
c.3297A>C (p.Gly1099=)
c.2964A>C (p.Gly988=)
7g.117611648A>GCA457230013CFTRc.3207A>G (p.Gly1069=)
c.*2921A>G (n.*2921A>G)
c.3024A>G (p.Gly1008=)
c.*1507A>G (n.*1507A>G)
c.*3031A>G (n.*3031A>G)
c.2781A>G (p.Gly927=)
c.798A>G (p.Gly266=)
c.857A>G
c.1989A>G (p.Gly663=)
c.3117A>G (p.Gly1039=)
c.32A>G
c.3297A>G (p.Gly1099=)
c.2964A>G (p.Gly988=)
 COSMIC
7g.117611648A>TCA457230014CFTRc.3207A>T (p.Gly1069=)
c.*2921A>T (n.*2921A>T)
c.3024A>T (p.Gly1008=)
c.*1507A>T (n.*1507A>T)
c.*3031A>T (n.*3031A>T)
c.2781A>T (p.Gly927=)
c.798A>T (p.Gly266=)
c.857A>T
c.1989A>T (p.Gly663=)
c.3117A>T (p.Gly1039=)
c.32A>T
c.3297A>T (p.Gly1099=)
c.2964A>T (p.Gly988=)
 dbSNP gnomAD v2 gnomAD v4
7g.117611649C>ACA457230015CFTRc.3208C>A (p.Arg1070=)
c.*2922C>A (n.*2922C>A)
c.3025C>A (p.Arg1009=)
c.*1508C>A (n.*1508C>A)
c.*3032C>A (n.*3032C>A)
c.2782C>A (p.Arg928=)
c.799C>A (p.Arg267=)
c.858C>A
c.1990C>A (p.Arg664=)
c.3118C>A (p.Arg1040=)
c.33C>A
c.3298C>A (p.Arg1100=)
c.2965C>A (p.Arg989=)
 gnomAD v4
7g.117611649C=CA1737387005CFTRc.3208C= (p.Arg1070=)
c.*2922C= (n.*2922C=)
c.3025C= (p.Arg1009=)
c.*1508C= (n.*1508C=)
c.*3032C= (n.*3032C=)
c.2782C= (p.Arg928=)
c.799C= (p.Arg267=)
c.858C=
c.1990C= (p.Arg664=)
c.3118C= (p.Arg1040=)
c.33C=
c.3298C= (p.Arg1100=)
c.2965C= (p.Arg989=)
7g.117611649C>GCA368992089CFTRc.3208C>G (p.Arg1070Gly)
c.*2922C>G (n.*2922C>G)
c.3025C>G (p.Arg1009Gly)
c.*1508C>G (n.*1508C>G)
c.*3032C>G (n.*3032C>G)
c.2782C>G (p.Arg928Gly)
c.799C>G (p.Arg267Gly)
c.858C>G
c.1990C>G (p.Arg664Gly)
c.3118C>G (p.Arg1040Gly)
c.33C>G
c.3298C>G (p.Arg1100Gly)
c.2965C>G (p.Arg989Gly)
7g.117611649C>TCA327099CFTRc.3208C>T (p.Arg1070Trp)
c.*2922C>T (n.*2922C>T)
c.3025C>T (p.Arg1009Trp)
c.*1508C>T (n.*1508C>T)
c.*3032C>T (n.*3032C>T)
c.2782C>T (p.Arg928Trp)
c.799C>T (p.Arg267Trp)
c.858C>T
c.1990C>T (p.Arg664Trp)
c.3118C>T (p.Arg1040Trp)
c.33C>T
c.3298C>T (p.Arg1100Trp)
c.2965C>T (p.Arg989Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611650G>ACA275095CFTRc.3209G>A (p.Arg1070Gln)
c.*2923G>A (n.*2923G>A)
c.3026G>A (p.Arg1009Gln)
c.*1509G>A (n.*1509G>A)
c.*3033G>A (n.*3033G>A)
c.2783G>A (p.Arg928Gln)
c.800G>A (p.Arg267Gln)
c.859G>A
c.1991G>A (p.Arg664Gln)
c.3119G>A (p.Arg1040Gln)
c.34G>A
c.3299G>A (p.Arg1100Gln)
c.2966G>A (p.Arg989Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611650G>CCA327100CFTRc.3209G>C (p.Arg1070Pro)
c.*2923G>C (n.*2923G>C)
c.3026G>C (p.Arg1009Pro)
c.*1509G>C (n.*1509G>C)
c.*3033G>C (n.*3033G>C)
c.2783G>C (p.Arg928Pro)
c.800G>C (p.Arg267Pro)
c.859G>C
c.1991G>C (p.Arg664Pro)
c.3119G>C (p.Arg1040Pro)
c.34G>C
c.3299G>C (p.Arg1100Pro)
c.2966G>C (p.Arg989Pro)
 ClinVar dbSNP
7g.117611650G=CA1737387022CFTRc.3209G= (p.Arg1070=)
c.*2923G= (n.*2923G=)
c.3026G= (p.Arg1009=)
c.*1509G= (n.*1509G=)
c.*3033G= (n.*3033G=)
c.2783G= (p.Arg928=)
c.800G= (p.Arg267=)
c.859G=
c.1991G= (p.Arg664=)
c.3119G= (p.Arg1040=)
c.34G=
c.3299G= (p.Arg1100=)
c.2966G= (p.Arg989=)
7g.117611650G>TCA368992092CFTRc.3209G>T (p.Arg1070Leu)
c.*2923G>T (n.*2923G>T)
c.3026G>T (p.Arg1009Leu)
c.*1509G>T (n.*1509G>T)
c.*3033G>T (n.*3033G>T)
c.2783G>T (p.Arg928Leu)
c.800G>T (p.Arg267Leu)
c.859G>T
c.1991G>T (p.Arg664Leu)
c.3119G>T (p.Arg1040Leu)
c.34G>T
c.3299G>T (p.Arg1100Leu)
c.2966G>T (p.Arg989Leu)
 COSMIC
7g.117611651G>ACA457230016CFTRc.3210G>A (p.Arg1070=)
c.*2924G>A (n.*2924G>A)
c.3027G>A (p.Arg1009=)
c.*1510G>A (n.*1510G>A)
c.*3034G>A (n.*3034G>A)
c.2784G>A (p.Arg928=)
c.801G>A (p.Arg267=)
c.860G>A
c.1992G>A (p.Arg664=)
c.3120G>A (p.Arg1040=)
c.35G>A
c.3300G>A (p.Arg1100=)
c.2967G>A (p.Arg989=)
 ClinVar dbSNP gnomAD v4
7g.117611651G>CCA457230017CFTRc.3210G>C (p.Arg1070=)
c.*2924G>C (n.*2924G>C)
c.3027G>C (p.Arg1009=)
c.*1510G>C (n.*1510G>C)
c.*3034G>C (n.*3034G>C)
c.2784G>C (p.Arg928=)
c.801G>C (p.Arg267=)
c.860G>C
c.1992G>C (p.Arg664=)
c.3120G>C (p.Arg1040=)
c.35G>C
c.3300G>C (p.Arg1100=)
c.2967G>C (p.Arg989=)
7g.117611651G=CA1737387026CFTRc.3210G= (p.Arg1070=)
c.*2924G= (n.*2924G=)
c.3027G= (p.Arg1009=)
c.*1510G= (n.*1510G=)
c.*3034G= (n.*3034G=)
c.2784G= (p.Arg928=)
c.801G= (p.Arg267=)
c.860G=
c.1992G= (p.Arg664=)
c.3120G= (p.Arg1040=)
c.35G=
c.3300G= (p.Arg1100=)
c.2967G= (p.Arg989=)
7g.117611651G>TCA457230018CFTRc.3210G>T (p.Arg1070=)
c.*2924G>T (n.*2924G>T)
c.3027G>T (p.Arg1009=)
c.*1510G>T (n.*1510G>T)
c.*3034G>T (n.*3034G>T)
c.2784G>T (p.Arg928=)
c.801G>T (p.Arg267=)
c.860G>T
c.1992G>T (p.Arg664=)
c.3120G>T (p.Arg1040=)
c.35G>T
c.3300G>T (p.Arg1100=)
c.2967G>T (p.Arg989=)
 dbSNP
7g.117611652C>ACA368992094CFTRc.3211C>A (p.Gln1071Lys)
c.*2925C>A (n.*2925C>A)
c.3028C>A (p.Gln1010Lys)
c.*1511C>A (n.*1511C>A)
c.*3035C>A (n.*3035C>A)
c.2785C>A (p.Gln929Lys)
c.802C>A (p.Gln268Lys)
c.861C>A
c.1993C>A (p.Gln665Lys)
c.3121C>A (p.Gln1041Lys)
c.36C>A
c.3301C>A (p.Gln1101Lys)
c.2968C>A (p.Gln990Lys)
7g.117611652C=CA1737387030CFTRc.3211C= (p.Gln1071=)
c.*2925C= (n.*2925C=)
c.3028C= (p.Gln1010=)
c.*1511C= (n.*1511C=)
c.*3035C= (n.*3035C=)
c.2785C= (p.Gln929=)
c.802C= (p.Gln268=)
c.861C=
c.1993C= (p.Gln665=)
c.3121C= (p.Gln1041=)
c.36C=
c.3301C= (p.Gln1101=)
c.2968C= (p.Gln990=)
7g.117611652C>GCA368992095CFTRc.3211C>G (p.Gln1071Glu)
c.*2925C>G (n.*2925C>G)
c.3028C>G (p.Gln1010Glu)
c.*1511C>G (n.*1511C>G)
c.*3035C>G (n.*3035C>G)
c.2785C>G (p.Gln929Glu)
c.802C>G (p.Gln268Glu)
c.861C>G
c.1993C>G (p.Gln665Glu)
c.3121C>G (p.Gln1041Glu)
c.36C>G
c.3301C>G (p.Gln1101Glu)
c.2968C>G (p.Gln990Glu)
7g.117611652C>TCA327101CFTRc.3211C>T (p.Gln1071Ter)
c.*2925C>T (n.*2925C>T)
c.3028C>T (p.Gln1010Ter)
c.*1511C>T (n.*1511C>T)
c.*3035C>T (n.*3035C>T)
c.2785C>T (p.Gln929Ter)
c.802C>T (p.Gln268Ter)
c.861C>T
c.1993C>T (p.Gln665Ter)
c.3121C>T (p.Gln1041Ter)
c.36C>T
c.3301C>T (p.Gln1101Ter)
c.2968C>T (p.Gln990Ter)
 ClinVar dbSNP COSMIC
7g.117611653A=CA1737387041CFTRc.3212A= (p.Gln1071=)
c.*2926A= (n.*2926A=)
c.3029A= (p.Gln1010=)
c.*1512A= (n.*1512A=)
c.*3036A= (n.*3036A=)
c.2786A= (p.Gln929=)
c.803A= (p.Gln268=)
c.862A=
c.1994A= (p.Gln665=)
c.3122A= (p.Gln1041=)
c.37A=
c.3302A= (p.Gln1101=)
c.2969A= (p.Gln990=)
7g.117611653A>CCA325597CFTRc.3212A>C (p.Gln1071Pro)
c.*2926A>C (n.*2926A>C)
c.3029A>C (p.Gln1010Pro)
c.*1512A>C (n.*1512A>C)
c.*3036A>C (n.*3036A>C)
c.2786A>C (p.Gln929Pro)
c.803A>C (p.Gln268Pro)
c.862A>C
c.1994A>C (p.Gln665Pro)
c.3122A>C (p.Gln1041Pro)
c.37A>C
c.3302A>C (p.Gln1101Pro)
c.2969A>C (p.Gln990Pro)
 ClinVar dbSNP
7g.117611653A>GCA368992101CFTRc.3212A>G (p.Gln1071Arg)
c.*2926A>G (n.*2926A>G)
c.3029A>G (p.Gln1010Arg)
c.*1512A>G (n.*1512A>G)
c.*3036A>G (n.*3036A>G)
c.2786A>G (p.Gln929Arg)
c.803A>G (p.Gln268Arg)
c.862A>G
c.1994A>G (p.Gln665Arg)
c.3122A>G (p.Gln1041Arg)
c.37A>G
c.3302A>G (p.Gln1101Arg)
c.2969A>G (p.Gln990Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611653A>TCA368992099CFTRc.3212A>T (p.Gln1071Leu)
c.*2926A>T (n.*2926A>T)
c.3029A>T (p.Gln1010Leu)
c.*1512A>T (n.*1512A>T)
c.*3036A>T (n.*3036A>T)
c.2786A>T (p.Gln929Leu)
c.803A>T (p.Gln268Leu)
c.862A>T
c.1994A>T (p.Gln665Leu)
c.3122A>T (p.Gln1041Leu)
c.37A>T
c.3302A>T (p.Gln1101Leu)
c.2969A>T (p.Gln990Leu)
7g.117611654G>ACA457230019CFTRc.3213G>A (p.Gln1071=)
c.*2927G>A (n.*2927G>A)
c.3030G>A (p.Gln1010=)
c.*1513G>A (n.*1513G>A)
c.*3037G>A (n.*3037G>A)
c.2787G>A (p.Gln929=)
c.804G>A (p.Gln268=)
c.863G>A
c.1995G>A (p.Gln665=)
c.3123G>A (p.Gln1041=)
c.38G>A
c.3303G>A (p.Gln1101=)
c.2970G>A (p.Gln990=)
 ClinVar gnomAD v4
7g.117611654G>CCA368992102CFTRc.3213G>C (p.Gln1071His)
c.*2927G>C (n.*2927G>C)
c.3030G>C (p.Gln1010His)
c.*1513G>C (n.*1513G>C)
c.*3037G>C (n.*3037G>C)
c.2787G>C (p.Gln929His)
c.804G>C (p.Gln268His)
c.863G>C
c.1995G>C (p.Gln665His)
c.3123G>C (p.Gln1041His)
c.38G>C
c.3303G>C (p.Gln1101His)
c.2970G>C (p.Gln990His)
7g.117611654G>TCA368992104CFTRc.3213G>T (p.Gln1071His)
c.*2927G>T (n.*2927G>T)
c.3030G>T (p.Gln1010His)
c.*1513G>T (n.*1513G>T)
c.*3037G>T (n.*3037G>T)
c.2787G>T (p.Gln929His)
c.804G>T (p.Gln268His)
c.863G>T
c.1995G>T (p.Gln665His)
c.3123G>T (p.Gln1041His)
c.38G>T
c.3303G>T (p.Gln1101His)
c.2970G>T (p.Gln990His)
 gnomAD v4
7g.117611655C>ACA368992106CFTRc.3214C>A (p.Pro1072Thr)
c.*2928C>A (n.*2928C>A)
c.3031C>A (p.Pro1011Thr)
c.*1514C>A (n.*1514C>A)
c.*3038C>A (n.*3038C>A)
c.2788C>A (p.Pro930Thr)
c.805C>A (p.Pro269Thr)
c.864C>A
c.1996C>A (p.Pro666Thr)
c.3124C>A (p.Pro1042Thr)
c.39C>A
c.3304C>A (p.Pro1102Thr)
c.2971C>A (p.Pro991Thr)
7g.117611655C=CA1737387053CFTRc.3214C= (p.Pro1072=)
c.*2928C= (n.*2928C=)
c.3031C= (p.Pro1011=)
c.*1514C= (n.*1514C=)
c.*3038C= (n.*3038C=)
c.2788C= (p.Pro930=)
c.805C= (p.Pro269=)
c.864C=
c.1996C= (p.Pro666=)
c.3124C= (p.Pro1042=)
c.39C=
c.3304C= (p.Pro1102=)
c.2971C= (p.Pro991=)
7g.117611655C>GCA368992108CFTRc.3214C>G (p.Pro1072Ala)
c.*2928C>G (n.*2928C>G)
c.3031C>G (p.Pro1011Ala)
c.*1514C>G (n.*1514C>G)
c.*3038C>G (n.*3038C>G)
c.2788C>G (p.Pro930Ala)
c.805C>G (p.Pro269Ala)
c.864C>G
c.1996C>G (p.Pro666Ala)
c.3124C>G (p.Pro1042Ala)
c.39C>G
c.3304C>G (p.Pro1102Ala)
c.2971C>G (p.Pro991Ala)
7g.117611655C>TCA368992109CFTRc.3214C>T (p.Pro1072Ser)
c.*2928C>T (n.*2928C>T)
c.3031C>T (p.Pro1011Ser)
c.*1514C>T (n.*1514C>T)
c.*3038C>T (n.*3038C>T)
c.2788C>T (p.Pro930Ser)
c.805C>T (p.Pro269Ser)
c.864C>T
c.1996C>T (p.Pro666Ser)
c.3124C>T (p.Pro1042Ser)
c.39C>T
c.3304C>T (p.Pro1102Ser)
c.2971C>T (p.Pro991Ser)
 ClinVar dbSNP
7g.117611656C>ACA368992113CFTRc.3215C>A (p.Pro1072His)
c.*2929C>A (n.*2929C>A)
c.3032C>A (p.Pro1011His)
c.*1515C>A (n.*1515C>A)
c.*3039C>A (n.*3039C>A)
c.2789C>A (p.Pro930His)
c.806C>A (p.Pro269His)
c.865C>A
c.1997C>A (p.Pro666His)
c.3125C>A (p.Pro1042His)
c.40C>A
c.3305C>A (p.Pro1102His)
c.2972C>A (p.Pro991His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611656C=CA1737387057CFTRc.3215C= (p.Pro1072=)
c.*2929C= (n.*2929C=)
c.3032C= (p.Pro1011=)
c.*1515C= (n.*1515C=)
c.*3039C= (n.*3039C=)
c.2789C= (p.Pro930=)
c.806C= (p.Pro269=)
c.865C=
c.1997C= (p.Pro666=)
c.3125C= (p.Pro1042=)
c.40C=
c.3305C= (p.Pro1102=)
c.2972C= (p.Pro991=)
7g.117611656C>GCA368992115CFTRc.3215C>G (p.Pro1072Arg)
c.*2929C>G (n.*2929C>G)
c.3032C>G (p.Pro1011Arg)
c.*1515C>G (n.*1515C>G)
c.*3039C>G (n.*3039C>G)
c.2789C>G (p.Pro930Arg)
c.806C>G (p.Pro269Arg)
c.865C>G
c.1997C>G (p.Pro666Arg)
c.3125C>G (p.Pro1042Arg)
c.40C>G
c.3305C>G (p.Pro1102Arg)
c.2972C>G (p.Pro991Arg)
7g.117611656C>TCA368992116CFTRc.3215C>T (p.Pro1072Leu)
c.*2929C>T (n.*2929C>T)
c.3032C>T (p.Pro1011Leu)
c.*1515C>T (n.*1515C>T)
c.*3039C>T (n.*3039C>T)
c.2789C>T (p.Pro930Leu)
c.806C>T (p.Pro269Leu)
c.865C>T
c.1997C>T (p.Pro666Leu)
c.3125C>T (p.Pro1042Leu)
c.40C>T
c.3305C>T (p.Pro1102Leu)
c.2972C>T (p.Pro991Leu)
7g.117611657T>ACA457230020CFTRc.3216T>A (p.Pro1072=)
c.*2930T>A (n.*2930T>A)
c.3033T>A (p.Pro1011=)
c.*1516T>A (n.*1516T>A)
c.*3040T>A (n.*3040T>A)
c.2790T>A (p.Pro930=)
c.807T>A (p.Pro269=)
c.866T>A
c.1998T>A (p.Pro666=)
c.3126T>A (p.Pro1042=)
c.41T>A
c.3306T>A (p.Pro1102=)
c.2973T>A (p.Pro991=)
7g.117611657T>CCA457230021CFTRc.3216T>C (p.Pro1072=)
c.*2930T>C (n.*2930T>C)
c.3033T>C (p.Pro1011=)
c.*1516T>C (n.*1516T>C)
c.*3040T>C (n.*3040T>C)
c.2790T>C (p.Pro930=)
c.807T>C (p.Pro269=)
c.866T>C
c.1998T>C (p.Pro666=)
c.3126T>C (p.Pro1042=)
c.41T>C
c.3306T>C (p.Pro1102=)
c.2973T>C (p.Pro991=)
7g.117611657T>GCA457230022CFTRc.3216T>G (p.Pro1072=)
c.*2930T>G (n.*2930T>G)
c.3033T>G (p.Pro1011=)
c.*1516T>G (n.*1516T>G)
c.*3040T>G (n.*3040T>G)
c.2790T>G (p.Pro930=)
c.807T>G (p.Pro269=)
c.866T>G
c.1998T>G (p.Pro666=)
c.3126T>G (p.Pro1042=)
c.41T>G
c.3306T>G (p.Pro1102=)
c.2973T>G (p.Pro991=)
7g.117611658dupCA4451409CFTRc.3217dup (p.Tyr1073LeufsTer3)
c.*2931dup (n.*2931dup)
c.3034dup (p.Tyr1012LeufsTer3)
c.*1517dup (n.*1517dup)
c.*3041dup (n.*3041dup)
c.2791dup (p.Tyr931LeufsTer3)
c.808dup (p.Tyr270LeufsTer3)
c.867dup
c.1999dup (p.Tyr667LeufsTer3)
c.3127dup (p.Tyr1043LeufsTer3)
c.42dup
c.3307dup (p.Tyr1103LeufsTer3)
c.2974dup (p.Tyr992LeufsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611658T>ACA368992118CFTRc.3217T>A (p.Tyr1073Asn)
c.*2931T>A (n.*2931T>A)
c.3034T>A (p.Tyr1012Asn)
c.*1517T>A (n.*1517T>A)
c.*3041T>A (n.*3041T>A)
c.2791T>A (p.Tyr931Asn)
c.808T>A (p.Tyr270Asn)
c.867T>A
c.1999T>A (p.Tyr667Asn)
c.3127T>A (p.Tyr1043Asn)
c.42T>A
c.3307T>A (p.Tyr1103Asn)
c.2974T>A (p.Tyr992Asn)
7g.117611658T>CCA368992120CFTRc.3217T>C (p.Tyr1073His)
c.*2931T>C (n.*2931T>C)
c.3034T>C (p.Tyr1012His)
c.*1517T>C (n.*1517T>C)
c.*3041T>C (n.*3041T>C)
c.2791T>C (p.Tyr931His)
c.808T>C (p.Tyr270His)
c.867T>C
c.1999T>C (p.Tyr667His)
c.3127T>C (p.Tyr1043His)
c.42T>C
c.3307T>C (p.Tyr1103His)
c.2974T>C (p.Tyr992His)
7g.117611658T>GCA368992122CFTRc.3217T>G (p.Tyr1073Asp)
c.*2931T>G (n.*2931T>G)
c.3034T>G (p.Tyr1012Asp)
c.*1517T>G (n.*1517T>G)
c.*3041T>G (n.*3041T>G)
c.2791T>G (p.Tyr931Asp)
c.808T>G (p.Tyr270Asp)
c.867T>G
c.1999T>G (p.Tyr667Asp)
c.3127T>G (p.Tyr1043Asp)
c.42T>G
c.3307T>G (p.Tyr1103Asp)
c.2974T>G (p.Tyr992Asp)
 gnomAD v4
7g.117611659A>CCA368992128CFTRc.3218A>C (p.Tyr1073Ser)
c.*2932A>C (n.*2932A>C)
c.3035A>C (p.Tyr1012Ser)
c.*1518A>C (n.*1518A>C)
c.*3042A>C (n.*3042A>C)
c.2792A>C (p.Tyr931Ser)
c.809A>C (p.Tyr270Ser)
c.868A>C
c.2000A>C (p.Tyr667Ser)
c.3128A>C (p.Tyr1043Ser)
c.43A>C
c.3308A>C (p.Tyr1103Ser)
c.2975A>C (p.Tyr992Ser)
7g.117611659A>GCA368992125CFTRc.3218A>G (p.Tyr1073Cys)
c.*2932A>G (n.*2932A>G)
c.3035A>G (p.Tyr1012Cys)
c.*1518A>G (n.*1518A>G)
c.*3042A>G (n.*3042A>G)
c.2792A>G (p.Tyr931Cys)
c.809A>G (p.Tyr270Cys)
c.868A>G
c.2000A>G (p.Tyr667Cys)
c.3128A>G (p.Tyr1043Cys)
c.43A>G
c.3308A>G (p.Tyr1103Cys)
c.2975A>G (p.Tyr992Cys)
7g.117611659A>TCA368992126CFTRc.3218A>T (p.Tyr1073Phe)
c.*2932A>T (n.*2932A>T)
c.3035A>T (p.Tyr1012Phe)
c.*1518A>T (n.*1518A>T)
c.*3042A>T (n.*3042A>T)
c.2792A>T (p.Tyr931Phe)
c.809A>T (p.Tyr270Phe)
c.868A>T
c.2000A>T (p.Tyr667Phe)
c.3128A>T (p.Tyr1043Phe)
c.43A>T
c.3308A>T (p.Tyr1103Phe)
c.2975A>T (p.Tyr992Phe)
7g.117611659_117611660delinsACCA1737387069CFTRc.3218_3219delinsAC (p.Tyr1073=)
c.*2932_*2933delinsAC (n.*2932_*2933delinsAC)
c.3035_3036delinsAC (p.Tyr1012=)
c.*1518_*1519delinsAC (n.*1518_*1519delinsAC)
c.*3042_*3043delinsAC (n.*3042_*3043delinsAC)
c.2792_2793delinsAC (p.Tyr931=)
c.809_810delinsAC (p.Tyr270=)
c.868_869delinsAC
c.2000_2001delinsAC (p.Tyr667=)
c.3128_3129delinsAC (p.Tyr1043=)
c.43_44delinsAC
c.3308_3309delinsAC (p.Tyr1103=)
c.2975_2976delinsAC (p.Tyr992=)
7g.117611660delCA918111983CFTRc.3219del (p.Phe1074LeufsTer9)
c.*2933del (n.*2933del)
c.3036del (p.Phe1013LeufsTer9)
c.*1519del (n.*1519del)
c.*3043del (n.*3043del)
c.2793del (p.Phe932LeufsTer9)
c.810del (p.Phe271LeufsTer9)
c.869del
c.2001del (p.Phe668LeufsTer9)
c.3129del (p.Phe1044LeufsTer9)
c.44del
c.3309del (p.Phe1104LeufsTer9)
c.2976del (p.Phe993LeufsTer9)
 dbSNP
7g.117611660C>ACA368992131CFTRc.3219C>A (p.Tyr1073Ter)
c.*2933C>A (n.*2933C>A)
c.3036C>A (p.Tyr1012Ter)
c.*1519C>A (n.*1519C>A)
c.*3043C>A (n.*3043C>A)
c.2793C>A (p.Tyr931Ter)
c.810C>A (p.Tyr270Ter)
c.869C>A
c.2001C>A (p.Tyr667Ter)
c.3129C>A (p.Tyr1043Ter)
c.44C>A
c.3309C>A (p.Tyr1103Ter)
c.2976C>A (p.Tyr992Ter)
7g.117611660C=CA1737387074CFTRc.3219C= (p.Tyr1073=)
c.*2933C= (n.*2933C=)
c.3036C= (p.Tyr1012=)
c.*1519C= (n.*1519C=)
c.*3043C= (n.*3043C=)
c.2793C= (p.Tyr931=)
c.810C= (p.Tyr270=)
c.869C=
c.2001C= (p.Tyr667=)
c.3129C= (p.Tyr1043=)
c.44C=
c.3309C= (p.Tyr1103=)
c.2976C= (p.Tyr992=)
7g.117611660C>GCA368992132CFTRc.3219C>G (p.Tyr1073Ter)
c.*2933C>G (n.*2933C>G)
c.3036C>G (p.Tyr1012Ter)
c.*1519C>G (n.*1519C>G)
c.*3043C>G (n.*3043C>G)
c.2793C>G (p.Tyr931Ter)
c.810C>G (p.Tyr270Ter)
c.869C>G
c.2001C>G (p.Tyr667Ter)
c.3129C>G (p.Tyr1043Ter)
c.44C>G
c.3309C>G (p.Tyr1103Ter)
c.2976C>G (p.Tyr992Ter)
7g.117611660C>TCA457230023CFTRc.3219C>T (p.Tyr1073=)
c.*2933C>T (n.*2933C>T)
c.3036C>T (p.Tyr1012=)
c.*1519C>T (n.*1519C>T)
c.*3043C>T (n.*3043C>T)
c.2793C>T (p.Tyr931=)
c.810C>T (p.Tyr270=)
c.869C>T
c.2001C>T (p.Tyr667=)
c.3129C>T (p.Tyr1043=)
c.44C>T
c.3309C>T (p.Tyr1103=)
c.2976C>T (p.Tyr992=)
 ClinVar dbSNP gnomAD v4
7g.117611661T>ACA368992134CFTRc.3220T>A (p.Phe1074Ile)
c.*2934T>A (n.*2934T>A)
c.3037T>A (p.Phe1013Ile)
c.*1520T>A (n.*1520T>A)
c.*3044T>A (n.*3044T>A)
c.2794T>A (p.Phe932Ile)
c.811T>A (p.Phe271Ile)
c.870T>A
c.2002T>A (p.Phe668Ile)
c.3130T>A (p.Phe1044Ile)
c.45T>A
c.3310T>A (p.Phe1104Ile)
c.2977T>A (p.Phe993Ile)
7g.117611661T>CCA368992136CFTRc.3220T>C (p.Phe1074Leu)
c.*2934T>C (n.*2934T>C)
c.3037T>C (p.Phe1013Leu)
c.*1520T>C (n.*1520T>C)
c.*3044T>C (n.*3044T>C)
c.2794T>C (p.Phe932Leu)
c.811T>C (p.Phe271Leu)
c.870T>C
c.2002T>C (p.Phe668Leu)
c.3130T>C (p.Phe1044Leu)
c.45T>C
c.3310T>C (p.Phe1104Leu)
c.2977T>C (p.Phe993Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611661T>GCA368992138CFTRc.3220T>G (p.Phe1074Val)
c.*2934T>G (n.*2934T>G)
c.3037T>G (p.Phe1013Val)
c.*1520T>G (n.*1520T>G)
c.*3044T>G (n.*3044T>G)
c.2794T>G (p.Phe932Val)
c.811T>G (p.Phe271Val)
c.870T>G
c.2002T>G (p.Phe668Val)
c.3130T>G (p.Phe1044Val)
c.45T>G
c.3310T>G (p.Phe1104Val)
c.2977T>G (p.Phe993Val)
7g.117611661T=CA1737387077CFTRc.3220T= (p.Phe1074=)
c.*2934T= (n.*2934T=)
c.3037T= (p.Phe1013=)
c.*1520T= (n.*1520T=)
c.*3044T= (n.*3044T=)
c.2794T= (p.Phe932=)
c.811T= (p.Phe271=)
c.870T=
c.2002T= (p.Phe668=)
c.3130T= (p.Phe1044=)
c.45T=
c.3310T= (p.Phe1104=)
c.2977T= (p.Phe993=)
7g.117611662T>ACA368992139CFTRc.3221T>A (p.Phe1074Tyr)
c.*2935T>A (n.*2935T>A)
c.3038T>A (p.Phe1013Tyr)
c.*1521T>A (n.*1521T>A)
c.*3045T>A (n.*3045T>A)
c.2795T>A (p.Phe932Tyr)
c.812T>A (p.Phe271Tyr)
c.871T>A
c.2003T>A (p.Phe668Tyr)
c.3131T>A (p.Phe1044Tyr)
c.46T>A
c.3311T>A (p.Phe1104Tyr)
c.2978T>A (p.Phe993Tyr)
7g.117611662T>CCA368992141CFTRc.3221T>C (p.Phe1074Ser)
c.*2935T>C (n.*2935T>C)
c.3038T>C (p.Phe1013Ser)
c.*1521T>C (n.*1521T>C)
c.*3045T>C (n.*3045T>C)
c.2795T>C (p.Phe932Ser)
c.812T>C (p.Phe271Ser)
c.871T>C
c.2003T>C (p.Phe668Ser)
c.3131T>C (p.Phe1044Ser)
c.46T>C
c.3311T>C (p.Phe1104Ser)
c.2978T>C (p.Phe993Ser)
7g.117611662T>GCA368992142CFTRc.3221T>G (p.Phe1074Cys)
c.*2935T>G (n.*2935T>G)
c.3038T>G (p.Phe1013Cys)
c.*1521T>G (n.*1521T>G)
c.*3045T>G (n.*3045T>G)
c.2795T>G (p.Phe932Cys)
c.812T>G (p.Phe271Cys)
c.871T>G
c.2003T>G (p.Phe668Cys)
c.3131T>G (p.Phe1044Cys)
c.46T>G
c.3311T>G (p.Phe1104Cys)
c.2978T>G (p.Phe993Cys)
7g.117611663T>ACA327103CFTRc.3222T>A (p.Phe1074Leu)
c.*2936T>A (n.*2936T>A)
c.3039T>A (p.Phe1013Leu)
c.*1522T>A (n.*1522T>A)
c.*3046T>A (n.*3046T>A)
c.2796T>A (p.Phe932Leu)
c.813T>A (p.Phe271Leu)
c.872T>A
c.2004T>A (p.Phe668Leu)
c.3132T>A (p.Phe1044Leu)
c.47T>A
c.3312T>A (p.Phe1104Leu)
c.2979T>A (p.Phe993Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611663T>CCA457230024CFTRc.3222T>C (p.Phe1074=)
c.*2936T>C (n.*2936T>C)
c.3039T>C (p.Phe1013=)
c.*1522T>C (n.*1522T>C)
c.*3046T>C (n.*3046T>C)
c.2796T>C (p.Phe932=)
c.813T>C (p.Phe271=)
c.872T>C
c.2004T>C (p.Phe668=)
c.3132T>C (p.Phe1044=)
c.47T>C
c.3312T>C (p.Phe1104=)
c.2979T>C (p.Phe993=)
7g.117611663T>GCA368992145CFTRc.3222T>G (p.Phe1074Leu)
c.*2936T>G (n.*2936T>G)
c.3039T>G (p.Phe1013Leu)
c.*1522T>G (n.*1522T>G)
c.*3046T>G (n.*3046T>G)
c.2796T>G (p.Phe932Leu)
c.813T>G (p.Phe271Leu)
c.872T>G
c.2004T>G (p.Phe668Leu)
c.3132T>G (p.Phe1044Leu)
c.47T>G
c.3312T>G (p.Phe1104Leu)
c.2979T>G (p.Phe993Leu)
 dbSNP
7g.117611663T=CA1737387082CFTRc.3222T= (p.Phe1074=)
c.*2936T= (n.*2936T=)
c.3039T= (p.Phe1013=)
c.*1522T= (n.*1522T=)
c.*3046T= (n.*3046T=)
c.2796T= (p.Phe932=)
c.813T= (p.Phe271=)
c.872T=
c.2004T= (p.Phe668=)
c.3132T= (p.Phe1044=)
c.47T=
c.3312T= (p.Phe1104=)
c.2979T= (p.Phe993=)
7g.117611664G>ACA368992146CFTRc.3223G>A (p.Glu1075Lys)
c.*2937G>A (n.*2937G>A)
c.3040G>A (p.Glu1014Lys)
c.*1523G>A (n.*1523G>A)
c.*3047G>A (n.*3047G>A)
c.2797G>A (p.Glu933Lys)
c.814G>A (p.Glu272Lys)
c.873G>A
c.2005G>A (p.Glu669Lys)
c.3133G>A (p.Glu1045Lys)
c.48G>A
c.3313G>A (p.Glu1105Lys)
c.2980G>A (p.Glu994Lys)
7g.117611664G>CCA368992147CFTRc.3223G>C (p.Glu1075Gln)
c.*2937G>C (n.*2937G>C)
c.3040G>C (p.Glu1014Gln)
c.*1523G>C (n.*1523G>C)
c.*3047G>C (n.*3047G>C)
c.2797G>C (p.Glu933Gln)
c.814G>C (p.Glu272Gln)
c.873G>C
c.2005G>C (p.Glu669Gln)
c.3133G>C (p.Glu1045Gln)
c.48G>C
c.3313G>C (p.Glu1105Gln)
c.2980G>C (p.Glu994Gln)
7g.117611664G>TCA368992149CFTRc.3223G>T (p.Glu1075Ter)
c.*2937G>T (n.*2937G>T)
c.3040G>T (p.Glu1014Ter)
c.*1523G>T (n.*1523G>T)
c.*3047G>T (n.*3047G>T)
c.2797G>T (p.Glu933Ter)
c.814G>T (p.Glu272Ter)
c.873G>T
c.2005G>T (p.Glu669Ter)
c.3133G>T (p.Glu1045Ter)
c.48G>T
c.3313G>T (p.Glu1105Ter)
c.2980G>T (p.Glu994Ter)
7g.117611665A>CCA368992153CFTRc.3224A>C (p.Glu1075Ala)
c.*2938A>C (n.*2938A>C)
c.3041A>C (p.Glu1014Ala)
c.*1524A>C (n.*1524A>C)
c.*3048A>C (n.*3048A>C)
c.2798A>C (p.Glu933Ala)
c.815A>C (p.Glu272Ala)
c.874A>C
c.2006A>C (p.Glu669Ala)
c.3134A>C (p.Glu1045Ala)
c.49A>C
c.3314A>C (p.Glu1105Ala)
c.2981A>C (p.Glu994Ala)
7g.117611665A>GCA368992154CFTRc.3224A>G (p.Glu1075Gly)
c.*2938A>G (n.*2938A>G)
c.3041A>G (p.Glu1014Gly)
c.*1524A>G (n.*1524A>G)
c.*3048A>G (n.*3048A>G)
c.2798A>G (p.Glu933Gly)
c.815A>G (p.Glu272Gly)
c.874A>G
c.2006A>G (p.Glu669Gly)
c.3134A>G (p.Glu1045Gly)
c.49A>G
c.3314A>G (p.Glu1105Gly)
c.2981A>G (p.Glu994Gly)
7g.117611665A>TCA368992151CFTRc.3224A>T (p.Glu1075Val)
c.*2938A>T (n.*2938A>T)
c.3041A>T (p.Glu1014Val)
c.*1524A>T (n.*1524A>T)
c.*3048A>T (n.*3048A>T)
c.2798A>T (p.Glu933Val)
c.815A>T (p.Glu272Val)
c.874A>T
c.2006A>T (p.Glu669Val)
c.3134A>T (p.Glu1045Val)
c.49A>T
c.3314A>T (p.Glu1105Val)
c.2981A>T (p.Glu994Val)
7g.117611666A>CCA368992158CFTRc.3225A>C (p.Glu1075Asp)
c.*2939A>C (n.*2939A>C)
c.3042A>C (p.Glu1014Asp)
c.*1525A>C (n.*1525A>C)
c.*3049A>C (n.*3049A>C)
c.2799A>C (p.Glu933Asp)
c.816A>C (p.Glu272Asp)
c.875A>C
c.2007A>C (p.Glu669Asp)
c.3135A>C (p.Glu1045Asp)
c.50A>C
c.3315A>C (p.Glu1105Asp)
c.2982A>C (p.Glu994Asp)
7g.117611666A>GCA457230025CFTRc.3225A>G (p.Glu1075=)
c.*2939A>G (n.*2939A>G)
c.3042A>G (p.Glu1014=)
c.*1525A>G (n.*1525A>G)
c.*3049A>G (n.*3049A>G)
c.2799A>G (p.Glu933=)
c.816A>G (p.Glu272=)
c.875A>G
c.2007A>G (p.Glu669=)
c.3135A>G (p.Glu1045=)
c.50A>G
c.3315A>G (p.Glu1105=)
c.2982A>G (p.Glu994=)
7g.117611666A>TCA368992156CFTRc.3225A>T (p.Glu1075Asp)
c.*2939A>T (n.*2939A>T)
c.3042A>T (p.Glu1014Asp)
c.*1525A>T (n.*1525A>T)
c.*3049A>T (n.*3049A>T)
c.2799A>T (p.Glu933Asp)
c.816A>T (p.Glu272Asp)
c.875A>T
c.2007A>T (p.Glu669Asp)
c.3135A>T (p.Glu1045Asp)
c.50A>T
c.3315A>T (p.Glu1105Asp)
c.2982A>T (p.Glu994Asp)
7g.117611667A>CCA368992164CFTRc.3226A>C (p.Thr1076Pro)
c.*2940A>C (n.*2940A>C)
c.3043A>C (p.Thr1015Pro)
c.*1526A>C (n.*1526A>C)
c.*3050A>C (n.*3050A>C)
c.2800A>C (p.Thr934Pro)
c.817A>C (p.Thr273Pro)
c.876A>C
c.2008A>C (p.Thr670Pro)
c.3136A>C (p.Thr1046Pro)
c.51A>C
c.3316A>C (p.Thr1106Pro)
c.2983A>C (p.Thr995Pro)
 ClinVar
7g.117611667A>GCA368992160CFTRc.3226A>G (p.Thr1076Ala)
c.*2940A>G (n.*2940A>G)
c.3043A>G (p.Thr1015Ala)
c.*1526A>G (n.*1526A>G)
c.*3050A>G (n.*3050A>G)
c.2800A>G (p.Thr934Ala)
c.817A>G (p.Thr273Ala)
c.876A>G
c.2008A>G (p.Thr670Ala)
c.3136A>G (p.Thr1046Ala)
c.51A>G
c.3316A>G (p.Thr1106Ala)
c.2983A>G (p.Thr995Ala)
 ClinVar
7g.117611667A>TCA368992162CFTRc.3226A>T (p.Thr1076Ser)
c.*2940A>T (n.*2940A>T)
c.3043A>T (p.Thr1015Ser)
c.*1526A>T (n.*1526A>T)
c.*3050A>T (n.*3050A>T)
c.2800A>T (p.Thr934Ser)
c.817A>T (p.Thr273Ser)
c.876A>T
c.2008A>T (p.Thr670Ser)
c.3136A>T (p.Thr1046Ser)
c.51A>T
c.3316A>T (p.Thr1106Ser)
c.2983A>T (p.Thr995Ser)
7g.117611667_117611668delCA2695208434CFTRc.3226_3227del (p.Thr1076SerfsTer?)
c.*2940_*2941del (n.*2940_*2941del)
c.3043_3044del (p.Thr1015SerfsTer?)
c.*1526_*1527del (n.*1526_*1527del)
c.*3050_*3051del (n.*3050_*3051del)
c.2800_2801del (p.Thr934SerfsTer?)
c.817_818del (p.Thr273SerfsTer?)
c.876_877del
c.2008_2009del (p.Thr670SerfsTer?)
c.3136_3137del (p.Thr1046SerfsTer?)
c.51_52del
c.3316_3317del (p.Thr1106SerfsTer?)
c.2983_2984del (p.Thr995SerfsTer?)
7g.117611667_117611669delinsACTCA1737387089CFTRc.3226_3228delinsACT (p.Thr1076=)
c.*2940_*2942delinsACT (n.*2940_*2942delinsACT)
c.3043_3045delinsACT (p.Thr1015=)
c.*1526_*1528delinsACT (n.*1526_*1528delinsACT)
c.*3050_*3052delinsACT (n.*3050_*3052delinsACT)
c.2800_2802delinsACT (p.Thr934=)
c.817_819delinsACT (p.Thr273=)
c.876_878delinsACT
c.2008_2010delinsACT (p.Thr670=)
c.3136_3138delinsACT (p.Thr1046=)
c.51_53delinsACT
c.3316_3318delinsACT (p.Thr1106=)
c.2983_2985delinsACT (p.Thr995=)
7g.117611668C>ACA368992165CFTRc.3227C>A (p.Thr1076Asn)
c.*2941C>A (n.*2941C>A)
c.3044C>A (p.Thr1015Asn)
c.*1527C>A (n.*1527C>A)
c.*3051C>A (n.*3051C>A)
c.2801C>A (p.Thr934Asn)
c.818C>A (p.Thr273Asn)
c.877C>A
c.2009C>A (p.Thr670Asn)
c.3137C>A (p.Thr1046Asn)
c.52C>A
c.3317C>A (p.Thr1106Asn)
c.2984C>A (p.Thr995Asn)
 COSMIC
7g.117611668C>GCA368992167CFTRc.3227C>G (p.Thr1076Ser)
c.*2941C>G (n.*2941C>G)
c.3044C>G (p.Thr1015Ser)
c.*1527C>G (n.*1527C>G)
c.*3051C>G (n.*3051C>G)
c.2801C>G (p.Thr934Ser)
c.818C>G (p.Thr273Ser)
c.877C>G
c.2009C>G (p.Thr670Ser)
c.3137C>G (p.Thr1046Ser)
c.52C>G
c.3317C>G (p.Thr1106Ser)
c.2984C>G (p.Thr995Ser)
7g.117611668C>TCA368992169CFTRc.3227C>T (p.Thr1076Ile)
c.*2941C>T (n.*2941C>T)
c.3044C>T (p.Thr1015Ile)
c.*1527C>T (n.*1527C>T)
c.*3051C>T (n.*3051C>T)
c.2801C>T (p.Thr934Ile)
c.818C>T (p.Thr273Ile)
c.877C>T
c.2009C>T (p.Thr670Ile)
c.3137C>T (p.Thr1046Ile)
c.52C>T
c.3317C>T (p.Thr1106Ile)
c.2984C>T (p.Thr995Ile)
7g.117611670_117611671delCA327105CFTRc.3229_3230del (p.Leu1077ValfsTer?)
c.*2943_*2944del (n.*2943_*2944del)
c.3046_3047del (p.Leu1016ValfsTer?)
c.*1529_*1530del (n.*1529_*1530del)
c.*3053_*3054del (n.*3053_*3054del)
c.2803_2804del (p.Leu935ValfsTer?)
c.820_821del (p.Leu274ValfsTer?)
c.879_880del
c.2011_2012del (p.Leu671ValfsTer?)
c.3139_3140del (p.Leu1047ValfsTer?)
c.54_55del
c.3319_3320del (p.Leu1107ValfsTer?)
c.2986_2987del (p.Leu996ValfsTer?)
 ClinVar dbSNP
7g.117611669T>ACA457230026CFTRc.3228T>A (p.Thr1076=)
c.*2942T>A (n.*2942T>A)
c.3045T>A (p.Thr1015=)
c.*1528T>A (n.*1528T>A)
c.*3052T>A (n.*3052T>A)
c.2802T>A (p.Thr934=)
c.819T>A (p.Thr273=)
c.878T>A
c.2010T>A (p.Thr670=)
c.3138T>A (p.Thr1046=)
c.53T>A
c.3318T>A (p.Thr1106=)
c.2985T>A (p.Thr995=)
7g.117611669T>CCA457230027CFTRc.3228T>C (p.Thr1076=)
c.*2942T>C (n.*2942T>C)
c.3045T>C (p.Thr1015=)
c.*1528T>C (n.*1528T>C)
c.*3052T>C (n.*3052T>C)
c.2802T>C (p.Thr934=)
c.819T>C (p.Thr273=)
c.878T>C
c.2010T>C (p.Thr670=)
c.3138T>C (p.Thr1046=)
c.53T>C
c.3318T>C (p.Thr1106=)
c.2985T>C (p.Thr995=)
7g.117611669T>GCA457230028CFTRc.3228T>G (p.Thr1076=)
c.*2942T>G (n.*2942T>G)
c.3045T>G (p.Thr1015=)
c.*1528T>G (n.*1528T>G)
c.*3052T>G (n.*3052T>G)
c.2802T>G (p.Thr934=)
c.819T>G (p.Thr273=)
c.878T>G
c.2010T>G (p.Thr670=)
c.3138T>G (p.Thr1046=)
c.53T>G
c.3318T>G (p.Thr1106=)
c.2985T>G (p.Thr995=)
7g.117611671_117611675delCA2695208435CFTRc.3230_3234del (p.Leu1077ProfsTer?)
c.*2944_*2948del (n.*2944_*2948del)
c.3047_3051del (p.Leu1016ProfsTer?)
c.*1530_*1534del (n.*1530_*1534del)
c.*3054_*3058del (n.*3054_*3058del)
c.2804_2808del (p.Leu935ProfsTer?)
c.821_825del (p.Leu274ProfsTer?)
c.880_884del
c.2012_2016del (p.Leu671ProfsTer?)
c.3140_3144del (p.Leu1047ProfsTer?)
c.55_59del
c.3320_3324del (p.Leu1107ProfsTer?)
c.2987_2991del (p.Leu996ProfsTer?)
7g.117611670C>ACA368992172CFTRc.3229C>A (p.Leu1077Met)
c.*2943C>A (n.*2943C>A)
c.3046C>A (p.Leu1016Met)
c.*1529C>A (n.*1529C>A)
c.*3053C>A (n.*3053C>A)
c.2803C>A (p.Leu935Met)
c.820C>A (p.Leu274Met)
c.879C>A
c.2011C>A (p.Leu671Met)
c.3139C>A (p.Leu1047Met)
c.54C>A
c.3319C>A (p.Leu1107Met)
c.2986C>A (p.Leu996Met)
7g.117611670C=CA1737387098CFTRc.3229C= (p.Leu1077=)
c.*2943C= (n.*2943C=)
c.3046C= (p.Leu1016=)
c.*1529C= (n.*1529C=)
c.*3053C= (n.*3053C=)
c.2803C= (p.Leu935=)
c.820C= (p.Leu274=)
c.879C=
c.2011C= (p.Leu671=)
c.3139C= (p.Leu1047=)
c.54C=
c.3319C= (p.Leu1107=)
c.2986C= (p.Leu996=)
7g.117611670C>GCA368992174CFTRc.3229C>G (p.Leu1077Val)
c.*2943C>G (n.*2943C>G)
c.3046C>G (p.Leu1016Val)
c.*1529C>G (n.*1529C>G)
c.*3053C>G (n.*3053C>G)
c.2803C>G (p.Leu935Val)
c.820C>G (p.Leu274Val)
c.879C>G
c.2011C>G (p.Leu671Val)
c.3139C>G (p.Leu1047Val)
c.54C>G
c.3319C>G (p.Leu1107Val)
c.2986C>G (p.Leu996Val)
 dbSNP
7g.117611670C>TCA457230029CFTRc.3229C>T (p.Leu1077=)
c.*2943C>T (n.*2943C>T)
c.3046C>T (p.Leu1016=)
c.*1529C>T (n.*1529C>T)
c.*3053C>T (n.*3053C>T)
c.2803C>T (p.Leu935=)
c.820C>T (p.Leu274=)
c.879C>T
c.2011C>T (p.Leu671=)
c.3139C>T (p.Leu1047=)
c.54C>T
c.3319C>T (p.Leu1107=)
c.2986C>T (p.Leu996=)
 dbSNP COSMIC
7g.117611670_117611672delinsCTGCA1737387099CFTRc.3229_3231delinsCTG (p.Leu1077=)
c.*2943_*2945delinsCTG (n.*2943_*2945delinsCTG)
c.3046_3048delinsCTG (p.Leu1016=)
c.*1529_*1531delinsCTG (n.*1529_*1531delinsCTG)
c.*3053_*3055delinsCTG (n.*3053_*3055delinsCTG)
c.2803_2805delinsCTG (p.Leu935=)
c.820_822delinsCTG (p.Leu274=)
c.879_881delinsCTG
c.2011_2013delinsCTG (p.Leu671=)
c.3139_3141delinsCTG (p.Leu1047=)
c.54_56delinsCTG
c.3319_3321delinsCTG (p.Leu1107=)
c.2986_2988delinsCTG (p.Leu996=)
7g.117611671T>ACA368992176CFTRc.3230T>A (p.Leu1077Gln)
c.*2944T>A (n.*2944T>A)
c.3047T>A (p.Leu1016Gln)
c.*1530T>A (n.*1530T>A)
c.*3054T>A (n.*3054T>A)
c.2804T>A (p.Leu935Gln)
c.821T>A (p.Leu274Gln)
c.880T>A
c.2012T>A (p.Leu671Gln)
c.3140T>A (p.Leu1047Gln)
c.55T>A
c.3320T>A (p.Leu1107Gln)
c.2987T>A (p.Leu996Gln)
7g.117611671T>CCA328111CFTRc.3230T>C (p.Leu1077Pro)
c.*2944T>C (n.*2944T>C)
c.3047T>C (p.Leu1016Pro)
c.*1530T>C (n.*1530T>C)
c.*3054T>C (n.*3054T>C)
c.2804T>C (p.Leu935Pro)
c.821T>C (p.Leu274Pro)
c.880T>C
c.2012T>C (p.Leu671Pro)
c.3140T>C (p.Leu1047Pro)
c.55T>C
c.3320T>C (p.Leu1107Pro)
c.2987T>C (p.Leu996Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611671T>GCA368992179CFTRc.3230T>G (p.Leu1077Arg)
c.*2944T>G (n.*2944T>G)
c.3047T>G (p.Leu1016Arg)
c.*1530T>G (n.*1530T>G)
c.*3054T>G (n.*3054T>G)
c.2804T>G (p.Leu935Arg)
c.821T>G (p.Leu274Arg)
c.880T>G
c.2012T>G (p.Leu671Arg)
c.3140T>G (p.Leu1047Arg)
c.55T>G
c.3320T>G (p.Leu1107Arg)
c.2987T>G (p.Leu996Arg)
7g.117611671T=CA1737387109CFTRc.3230T= (p.Leu1077=)
c.*2944T= (n.*2944T=)
c.3047T= (p.Leu1016=)
c.*1530T= (n.*1530T=)
c.*3054T= (n.*3054T=)
c.2804T= (p.Leu935=)
c.821T= (p.Leu274=)
c.880T=
c.2012T= (p.Leu671=)
c.3140T= (p.Leu1047=)
c.55T=
c.3320T= (p.Leu1107=)
c.2987T= (p.Leu996=)
7g.117611672_117611673delCA4451410CFTRc.3231_3232del (p.Phe1078ProfsTer?)
c.*2945_*2946del (n.*2945_*2946del)
c.3048_3049del (p.Phe1017ProfsTer?)
c.*1531_*1532del (n.*1531_*1532del)
c.*3055_*3056del (n.*3055_*3056del)
c.2805_2806del (p.Phe936ProfsTer?)
c.822_823del (p.Phe275ProfsTer?)
c.881_882del
c.2013_2014del (p.Phe672ProfsTer?)
c.3141_3142del (p.Phe1048ProfsTer?)
c.56_57del
c.3321_3322del (p.Phe1108ProfsTer?)
c.2988_2989del (p.Phe997ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611672G>ACA457230030CFTRc.3231G>A (p.Leu1077=)
c.*2945G>A (n.*2945G>A)
c.3048G>A (p.Leu1016=)
c.*1531G>A (n.*1531G>A)
c.*3055G>A (n.*3055G>A)
c.2805G>A (p.Leu935=)
c.822G>A (p.Leu274=)
c.881G>A
c.2013G>A (p.Leu671=)
c.3141G>A (p.Leu1047=)
c.56G>A
c.3321G>A (p.Leu1107=)
c.2988G>A (p.Leu996=)
7g.117611672G>CCA457230031CFTRc.3231G>C (p.Leu1077=)
c.*2945G>C (n.*2945G>C)
c.3048G>C (p.Leu1016=)
c.*1531G>C (n.*1531G>C)
c.*3055G>C (n.*3055G>C)
c.2805G>C (p.Leu935=)
c.822G>C (p.Leu274=)
c.881G>C
c.2013G>C (p.Leu671=)
c.3141G>C (p.Leu1047=)
c.56G>C
c.3321G>C (p.Leu1107=)
c.2988G>C (p.Leu996=)
7g.117611672G>TCA457230032CFTRc.3231G>T (p.Leu1077=)
c.*2945G>T (n.*2945G>T)
c.3048G>T (p.Leu1016=)
c.*1531G>T (n.*1531G>T)
c.*3055G>T (n.*3055G>T)
c.2805G>T (p.Leu935=)
c.822G>T (p.Leu274=)
c.881G>T
c.2013G>T (p.Leu671=)
c.3141G>T (p.Leu1047=)
c.56G>T
c.3321G>T (p.Leu1107=)
c.2988G>T (p.Leu996=)
7g.117611673T>ACA368992185CFTRc.3232T>A (p.Phe1078Ile)
c.*2946T>A (n.*2946T>A)
c.3049T>A (p.Phe1017Ile)
c.*1532T>A (n.*1532T>A)
c.*3056T>A (n.*3056T>A)
c.2806T>A (p.Phe936Ile)
c.823T>A (p.Phe275Ile)
c.882T>A
c.2014T>A (p.Phe672Ile)
c.3142T>A (p.Phe1048Ile)
c.57T>A
c.3322T>A (p.Phe1108Ile)
c.2989T>A (p.Phe997Ile)
7g.117611673T>CCA368992182CFTRc.3232T>C (p.Phe1078Leu)
c.*2946T>C (n.*2946T>C)
c.3049T>C (p.Phe1017Leu)
c.*1532T>C (n.*1532T>C)
c.*3056T>C (n.*3056T>C)
c.2806T>C (p.Phe936Leu)
c.823T>C (p.Phe275Leu)
c.882T>C
c.2014T>C (p.Phe672Leu)
c.3142T>C (p.Phe1048Leu)
c.57T>C
c.3322T>C (p.Phe1108Leu)
c.2989T>C (p.Phe997Leu)
7g.117611673T>GCA368992184CFTRc.3232T>G (p.Phe1078Val)
c.*2946T>G (n.*2946T>G)
c.3049T>G (p.Phe1017Val)
c.*1532T>G (n.*1532T>G)
c.*3056T>G (n.*3056T>G)
c.2806T>G (p.Phe936Val)
c.823T>G (p.Phe275Val)
c.882T>G
c.2014T>G (p.Phe672Val)
c.3142T>G (p.Phe1048Val)
c.57T>G
c.3322T>G (p.Phe1108Val)
c.2989T>G (p.Phe997Val)
7g.117611674T>ACA368992188CFTRc.3233T>A (p.Phe1078Tyr)
c.*2947T>A (n.*2947T>A)
c.3050T>A (p.Phe1017Tyr)
c.*1533T>A (n.*1533T>A)
c.*3057T>A (n.*3057T>A)
c.2807T>A (p.Phe936Tyr)
c.824T>A (p.Phe275Tyr)
c.883T>A
c.2015T>A (p.Phe672Tyr)
c.3143T>A (p.Phe1048Tyr)
c.58T>A
c.3323T>A (p.Phe1108Tyr)
c.2990T>A (p.Phe997Tyr)
7g.117611674T>CCA368992189CFTRc.3233T>C (p.Phe1078Ser)
c.*2947T>C (n.*2947T>C)
c.3050T>C (p.Phe1017Ser)
c.*1533T>C (n.*1533T>C)
c.*3057T>C (n.*3057T>C)
c.2807T>C (p.Phe936Ser)
c.824T>C (p.Phe275Ser)
c.883T>C
c.2015T>C (p.Phe672Ser)
c.3143T>C (p.Phe1048Ser)
c.58T>C
c.3323T>C (p.Phe1108Ser)
c.2990T>C (p.Phe997Ser)
7g.117611674T>GCA368992190CFTRc.3233T>G (p.Phe1078Cys)
c.*2947T>G (n.*2947T>G)
c.3050T>G (p.Phe1017Cys)
c.*1533T>G (n.*1533T>G)
c.*3057T>G (n.*3057T>G)
c.2807T>G (p.Phe936Cys)
c.824T>G (p.Phe275Cys)
c.883T>G
c.2015T>G (p.Phe672Cys)
c.3143T>G (p.Phe1048Cys)
c.58T>G
c.3323T>G (p.Phe1108Cys)
c.2990T>G (p.Phe997Cys)
7g.117611675C>ACA368992192CFTRc.3234C>A (p.Phe1078Leu)
c.*2948C>A (n.*2948C>A)
c.3051C>A (p.Phe1017Leu)
c.*1534C>A (n.*1534C>A)
c.*3058C>A (n.*3058C>A)
c.2808C>A (p.Phe936Leu)
c.825C>A (p.Phe275Leu)
c.884C>A
c.2016C>A (p.Phe672Leu)
c.3144C>A (p.Phe1048Leu)
c.59C>A
c.3324C>A (p.Phe1108Leu)
c.2991C>A (p.Phe997Leu)
7g.117611675C>GCA368992194CFTRc.3234C>G (p.Phe1078Leu)
c.*2948C>G (n.*2948C>G)
c.3051C>G (p.Phe1017Leu)
c.*1534C>G (n.*1534C>G)
c.*3058C>G (n.*3058C>G)
c.2808C>G (p.Phe936Leu)
c.825C>G (p.Phe275Leu)
c.884C>G
c.2016C>G (p.Phe672Leu)
c.3144C>G (p.Phe1048Leu)
c.59C>G
c.3324C>G (p.Phe1108Leu)
c.2991C>G (p.Phe997Leu)
7g.117611675C>TCA457230033CFTRc.3234C>T (p.Phe1078=)
c.*2948C>T (n.*2948C>T)
c.3051C>T (p.Phe1017=)
c.*1534C>T (n.*1534C>T)
c.*3058C>T (n.*3058C>T)
c.2808C>T (p.Phe936=)
c.825C>T (p.Phe275=)
c.884C>T
c.2016C>T (p.Phe672=)
c.3144C>T (p.Phe1048=)
c.59C>T
c.3324C>T (p.Phe1108=)
c.2991C>T (p.Phe997=)
 gnomAD v4
7g.117611676C>ACA368992196CFTRc.3235C>A (p.His1079Asn)
c.*2949C>A (n.*2949C>A)
c.3052C>A (p.His1018Asn)
c.*1535C>A (n.*1535C>A)
c.*3059C>A (n.*3059C>A)
c.2809C>A (p.His937Asn)
c.826C>A (p.His276Asn)
c.885C>A
c.2017C>A (p.His673Asn)
c.3145C>A (p.His1049Asn)
c.60C>A
c.3325C>A (p.His1109Asn)
c.2992C>A (p.His998Asn)
7g.117611676C>GCA368992197CFTRc.3235C>G (p.His1079Asp)
c.*2949C>G (n.*2949C>G)
c.3052C>G (p.His1018Asp)
c.*1535C>G (n.*1535C>G)
c.*3059C>G (n.*3059C>G)
c.2809C>G (p.His937Asp)
c.826C>G (p.His276Asp)
c.885C>G
c.2017C>G (p.His673Asp)
c.3145C>G (p.His1049Asp)
c.60C>G
c.3325C>G (p.His1109Asp)
c.2992C>G (p.His998Asp)
7g.117611676C>TCA368992199CFTRc.3235C>T (p.His1079Tyr)
c.*2949C>T (n.*2949C>T)
c.3052C>T (p.His1018Tyr)
c.*1535C>T (n.*1535C>T)
c.*3059C>T (n.*3059C>T)
c.2809C>T (p.His937Tyr)
c.826C>T (p.His276Tyr)
c.885C>T
c.2017C>T (p.His673Tyr)
c.3145C>T (p.His1049Tyr)
c.60C>T
c.3325C>T (p.His1109Tyr)
c.2992C>T (p.His998Tyr)
 ClinVar
7g.117611677A=CA1737387113CFTRc.3236A= (p.His1079=)
c.*2950A= (n.*2950A=)
c.3053A= (p.His1018=)
c.*1536A= (n.*1536A=)
c.*3060A= (n.*3060A=)
c.2810A= (p.His937=)
c.827A= (p.His276=)
c.886A=
c.2018A= (p.His673=)
c.3146A= (p.His1049=)
c.61A=
c.3326A= (p.His1109=)
c.2993A= (p.His998=)
7g.117611677A>CCA327106CFTRc.3236A>C (p.His1079Pro)
c.*2950A>C (n.*2950A>C)
c.3053A>C (p.His1018Pro)
c.*1536A>C (n.*1536A>C)
c.*3060A>C (n.*3060A>C)
c.2810A>C (p.His937Pro)
c.827A>C (p.His276Pro)
c.886A>C
c.2018A>C (p.His673Pro)
c.3146A>C (p.His1049Pro)
c.61A>C
c.3326A>C (p.His1109Pro)
c.2993A>C (p.His998Pro)
 dbSNP
7g.117611677A>GCA368992202CFTRc.3236A>G (p.His1079Arg)
c.*2950A>G (n.*2950A>G)
c.3053A>G (p.His1018Arg)
c.*1536A>G (n.*1536A>G)
c.*3060A>G (n.*3060A>G)
c.2810A>G (p.His937Arg)
c.827A>G (p.His276Arg)
c.886A>G
c.2018A>G (p.His673Arg)
c.3146A>G (p.His1049Arg)
c.61A>G
c.3326A>G (p.His1109Arg)
c.2993A>G (p.His998Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117611677A>TCA368992204CFTRc.3236A>T (p.His1079Leu)
c.*2950A>T (n.*2950A>T)
c.3053A>T (p.His1018Leu)
c.*1536A>T (n.*1536A>T)
c.*3060A>T (n.*3060A>T)
c.2810A>T (p.His937Leu)
c.827A>T (p.His276Leu)
c.886A>T
c.2018A>T (p.His673Leu)
c.3146A>T (p.His1049Leu)
c.61A>T
c.3326A>T (p.His1109Leu)
c.2993A>T (p.His998Leu)
7g.117611678C>ACA368992208CFTRc.3237C>A (p.His1079Gln)
c.*2951C>A (n.*2951C>A)
c.3054C>A (p.His1018Gln)
c.*1537C>A (n.*1537C>A)
c.*3061C>A (n.*3061C>A)
c.2811C>A (p.His937Gln)
c.828C>A (p.His276Gln)
c.887C>A
c.2019C>A (p.His673Gln)
c.3147C>A (p.His1049Gln)
c.62C>A
c.3327C>A (p.His1109Gln)
c.2994C>A (p.His998Gln)
7g.117611678C>GCA368992206CFTRc.3237C>G (p.His1079Gln)
c.*2951C>G (n.*2951C>G)
c.3054C>G (p.His1018Gln)
c.*1537C>G (n.*1537C>G)
c.*3061C>G (n.*3061C>G)
c.2811C>G (p.His937Gln)
c.828C>G (p.His276Gln)
c.887C>G
c.2019C>G (p.His673Gln)
c.3147C>G (p.His1049Gln)
c.62C>G
c.3327C>G (p.His1109Gln)
c.2994C>G (p.His998Gln)
7g.117611678C>TCA457230034CFTRc.3237C>T (p.His1079=)
c.*2951C>T (n.*2951C>T)
c.3054C>T (p.His1018=)
c.*1537C>T (n.*1537C>T)
c.*3061C>T (n.*3061C>T)
c.2811C>T (p.His937=)
c.828C>T (p.His276=)
c.887C>T
c.2019C>T (p.His673=)
c.3147C>T (p.His1049=)
c.62C>T
c.3327C>T (p.His1109=)
c.2994C>T (p.His998=)
 ClinVar dbSNP
7g.117611679A=CA1737387116CFTRc.3238A= (p.Lys1080=)
c.*2952A= (n.*2952A=)
c.3055A= (p.Lys1019=)
c.*1538A= (n.*1538A=)
c.*3062A= (n.*3062A=)
c.2812A= (p.Lys938=)
c.829A= (p.Lys277=)
c.888A=
c.2020A= (p.Lys674=)
c.3148A= (p.Lys1050=)
c.63A=
c.3328A= (p.Lys1110=)
c.2995A= (p.Lys999=)
7g.117611679A>CCA4451411CFTRc.3238A>C (p.Lys1080Gln)
c.*2952A>C (n.*2952A>C)
c.3055A>C (p.Lys1019Gln)
c.*1538A>C (n.*1538A>C)
c.*3062A>C (n.*3062A>C)
c.2812A>C (p.Lys938Gln)
c.829A>C (p.Lys277Gln)
c.888A>C
c.2020A>C (p.Lys674Gln)
c.3148A>C (p.Lys1050Gln)
c.63A>C
c.3328A>C (p.Lys1110Gln)
c.2995A>C (p.Lys999Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>GCA368992210CFTRc.3238A>G (p.Lys1080Glu)
c.*2952A>G (n.*2952A>G)
c.3055A>G (p.Lys1019Glu)
c.*1538A>G (n.*1538A>G)
c.*3062A>G (n.*3062A>G)
c.2812A>G (p.Lys938Glu)
c.829A>G (p.Lys277Glu)
c.888A>G
c.2020A>G (p.Lys674Glu)
c.3148A>G (p.Lys1050Glu)
c.63A>G
c.3328A>G (p.Lys1110Glu)
c.2995A>G (p.Lys999Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>TCA368992212CFTRc.3238A>T (p.Lys1080Ter)
c.*2952A>T (n.*2952A>T)
c.3055A>T (p.Lys1019Ter)
c.*1538A>T (n.*1538A>T)
c.*3062A>T (n.*3062A>T)
c.2812A>T (p.Lys938Ter)
c.829A>T (p.Lys277Ter)
c.888A>T
c.2020A>T (p.Lys674Ter)
c.3148A>T (p.Lys1050Ter)
c.63A>T
c.3328A>T (p.Lys1110Ter)
c.2995A>T (p.Lys999Ter)
7g.117611681dupCA2695208436CFTRc.3240dup (p.Ala1081SerfsTer?)
c.*2954dup (n.*2954dup)
c.3057dup (p.Ala1020SerfsTer?)
c.*1540dup (n.*1540dup)
c.*3064dup (n.*3064dup)
c.2814dup (p.Ala939SerfsTer?)
c.831dup (p.Ala278SerfsTer?)
c.890dup
c.2022dup (p.Ala675SerfsTer?)
c.3150dup (p.Ala1051SerfsTer?)
c.65dup
c.3330dup (p.Ala1111SerfsTer?)
c.2997dup (p.Ala1000SerfsTer?)
7g.117611680A=CA1737387121CFTRc.3239A= (p.Lys1080=)
c.*2953A= (n.*2953A=)
c.3056A= (p.Lys1019=)
c.*1539A= (n.*1539A=)
c.*3063A= (n.*3063A=)
c.2813A= (p.Lys938=)
c.830A= (p.Lys277=)
c.889A=
c.2021A= (p.Lys674=)
c.3149A= (p.Lys1050=)
c.64A=
c.3329A= (p.Lys1110=)
c.2996A= (p.Lys999=)
7g.117611680A>CCA368992214CFTRc.3239A>C (p.Lys1080Thr)
c.*2953A>C (n.*2953A>C)
c.3056A>C (p.Lys1019Thr)
c.*1539A>C (n.*1539A>C)
c.*3063A>C (n.*3063A>C)
c.2813A>C (p.Lys938Thr)
c.830A>C (p.Lys277Thr)
c.889A>C
c.2021A>C (p.Lys674Thr)
c.3149A>C (p.Lys1050Thr)
c.64A>C
c.3329A>C (p.Lys1110Thr)
c.2996A>C (p.Lys999Thr)
7g.117611680A>GCA4451412CFTRc.3239A>G (p.Lys1080Arg)
c.*2953A>G (n.*2953A>G)
c.3056A>G (p.Lys1019Arg)
c.*1539A>G (n.*1539A>G)
c.*3063A>G (n.*3063A>G)
c.2813A>G (p.Lys938Arg)
c.830A>G (p.Lys277Arg)
c.889A>G
c.2021A>G (p.Lys674Arg)
c.3149A>G (p.Lys1050Arg)
c.64A>G
c.3329A>G (p.Lys1110Arg)
c.2996A>G (p.Lys999Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611680A>TCA368992216CFTRc.3239A>T (p.Lys1080Ile)
c.*2953A>T (n.*2953A>T)
c.3056A>T (p.Lys1019Ile)
c.*1539A>T (n.*1539A>T)
c.*3063A>T (n.*3063A>T)
c.2813A>T (p.Lys938Ile)
c.830A>T (p.Lys277Ile)
c.889A>T
c.2021A>T (p.Lys674Ile)
c.3149A>T (p.Lys1050Ile)
c.64A>T
c.3329A>T (p.Lys1110Ile)
c.2996A>T (p.Lys999Ile)
7g.117611681A>CCA368992217CFTRc.3240A>C (p.Lys1080Asn)
c.*2954A>C (n.*2954A>C)
c.3057A>C (p.Lys1019Asn)
c.*1540A>C (n.*1540A>C)
c.*3064A>C (n.*3064A>C)
c.2814A>C (p.Lys938Asn)
c.831A>C (p.Lys277Asn)
c.890A>C
c.2022A>C (p.Lys674Asn)
c.3150A>C (p.Lys1050Asn)
c.65A>C
c.3330A>C (p.Lys1110Asn)
c.2997A>C (p.Lys999Asn)
 gnomAD v4
7g.117611681A>GCA457230035CFTRc.3240A>G (p.Lys1080=)
c.*2954A>G (n.*2954A>G)
c.3057A>G (p.Lys1019=)
c.*1540A>G (n.*1540A>G)
c.*3064A>G (n.*3064A>G)
c.2814A>G (p.Lys938=)
c.831A>G (p.Lys277=)
c.890A>G
c.2022A>G (p.Lys674=)
c.3150A>G (p.Lys1050=)
c.65A>G
c.3330A>G (p.Lys1110=)
c.2997A>G (p.Lys999=)
7g.117611681A>TCA368992218CFTRc.3240A>T (p.Lys1080Asn)
c.*2954A>T (n.*2954A>T)
c.3057A>T (p.Lys1019Asn)
c.*1540A>T (n.*1540A>T)
c.*3064A>T (n.*3064A>T)
c.2814A>T (p.Lys938Asn)
c.831A>T (p.Lys277Asn)
c.890A>T
c.2022A>T (p.Lys674Asn)
c.3150A>T (p.Lys1050Asn)
c.65A>T
c.3330A>T (p.Lys1110Asn)
c.2997A>T (p.Lys999Asn)
7g.117611682delCA2580610970CFTRc.3241del (p.Ala1081LeufsTer2)
c.*2955del (n.*2955del)
c.3058del (p.Ala1020LeufsTer2)
c.*1541del (n.*1541del)
c.*3065del (n.*3065del)
c.2815del (p.Ala939LeufsTer2)
c.832del (p.Ala278LeufsTer2)
c.891del
c.2023del (p.Ala675LeufsTer2)
c.3151del (p.Ala1051LeufsTer2)
c.66del
c.3331del (p.Ala1111LeufsTer2)
c.2998del (p.Ala1000LeufsTer2)
7g.117611682G>ACA368992220CFTRc.3241G>A (p.Ala1081Thr)
c.*2955G>A (n.*2955G>A)
c.3058G>A (p.Ala1020Thr)
c.*1541G>A (n.*1541G>A)
c.*3065G>A (n.*3065G>A)
c.2815G>A (p.Ala939Thr)
c.832G>A (p.Ala278Thr)
c.891G>A
c.2023G>A (p.Ala675Thr)
c.3151G>A (p.Ala1051Thr)
c.66G>A
c.3331G>A (p.Ala1111Thr)
c.2998G>A (p.Ala1000Thr)
7g.117611682G>CCA327110CFTRc.3241G>C (p.Ala1081Pro)
c.*2955G>C (n.*2955G>C)
c.3058G>C (p.Ala1020Pro)
c.*1541G>C (n.*1541G>C)
c.*3065G>C (n.*3065G>C)
c.2815G>C (p.Ala939Pro)
c.832G>C (p.Ala278Pro)
c.891G>C
c.2023G>C (p.Ala675Pro)
c.3151G>C (p.Ala1051Pro)
c.66G>C
c.3331G>C (p.Ala1111Pro)
c.2998G>C (p.Ala1000Pro)
 ClinVar dbSNP
7g.117611682G=CA1737387130CFTRc.3241G= (p.Ala1081=)
c.*2955G= (n.*2955G=)
c.3058G= (p.Ala1020=)
c.*1541G= (n.*1541G=)
c.*3065G= (n.*3065G=)
c.2815G= (p.Ala939=)
c.832G= (p.Ala278=)
c.891G=
c.2023G= (p.Ala675=)
c.3151G= (p.Ala1051=)
c.66G=
c.3331G= (p.Ala1111=)
c.2998G= (p.Ala1000=)
7g.117611682G>TCA368992222CFTRc.3241G>T (p.Ala1081Ser)
c.*2955G>T (n.*2955G>T)
c.3058G>T (p.Ala1020Ser)
c.*1541G>T (n.*1541G>T)
c.*3065G>T (n.*3065G>T)
c.2815G>T (p.Ala939Ser)
c.832G>T (p.Ala278Ser)
c.891G>T
c.2023G>T (p.Ala675Ser)
c.3151G>T (p.Ala1051Ser)
c.66G>T
c.3331G>T (p.Ala1111Ser)
c.2998G>T (p.Ala1000Ser)
7g.117611683C>ACA368992224CFTRc.3242C>A (p.Ala1081Asp)
c.*2956C>A (n.*2956C>A)
c.3059C>A (p.Ala1020Asp)
c.*1542C>A (n.*1542C>A)
c.*3066C>A (n.*3066C>A)
c.2816C>A (p.Ala939Asp)
c.833C>A (p.Ala278Asp)
c.892C>A
c.2024C>A (p.Ala675Asp)
c.3152C>A (p.Ala1051Asp)
c.67C>A
c.3332C>A (p.Ala1111Asp)
c.2999C>A (p.Ala1000Asp)
7g.117611683C=CA1737387139CFTRc.3242C= (p.Ala1081=)
c.*2956C= (n.*2956C=)
c.3059C= (p.Ala1020=)
c.*1542C= (n.*1542C=)
c.*3066C= (n.*3066C=)
c.2816C= (p.Ala939=)
c.833C= (p.Ala278=)
c.892C=
c.2024C= (p.Ala675=)
c.3152C= (p.Ala1051=)
c.67C=
c.3332C= (p.Ala1111=)
c.2999C= (p.Ala1000=)
7g.117611683C>GCA368992226CFTRc.3242C>G (p.Ala1081Gly)
c.*2956C>G (n.*2956C>G)
c.3059C>G (p.Ala1020Gly)
c.*1542C>G (n.*1542C>G)
c.*3066C>G (n.*3066C>G)
c.2816C>G (p.Ala939Gly)
c.833C>G (p.Ala278Gly)
c.892C>G
c.2024C>G (p.Ala675Gly)
c.3152C>G (p.Ala1051Gly)
c.67C>G
c.3332C>G (p.Ala1111Gly)
c.2999C>G (p.Ala1000Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117611683C>TCA368992228CFTRc.3242C>T (p.Ala1081Val)
c.*2956C>T (n.*2956C>T)
c.3059C>T (p.Ala1020Val)
c.*1542C>T (n.*1542C>T)
c.*3066C>T (n.*3066C>T)
c.2816C>T (p.Ala939Val)
c.833C>T (p.Ala278Val)
c.892C>T
c.2024C>T (p.Ala675Val)
c.3152C>T (p.Ala1051Val)
c.67C>T
c.3332C>T (p.Ala1111Val)
c.2999C>T (p.Ala1000Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117611684T>ACA457230036CFTRc.3243T>A (p.Ala1081=)
c.*2957T>A (n.*2957T>A)
c.3060T>A (p.Ala1020=)
c.*1543T>A (n.*1543T>A)
c.*3067T>A (n.*3067T>A)
c.2817T>A (p.Ala939=)
c.834T>A (p.Ala278=)
c.893T>A
c.2025T>A (p.Ala675=)
c.3153T>A (p.Ala1051=)
c.68T>A
c.3333T>A (p.Ala1111=)
c.3000T>A (p.Ala1000=)
7g.117611684T>CCA457230037CFTRc.3243T>C (p.Ala1081=)
c.*2957T>C (n.*2957T>C)
c.3060T>C (p.Ala1020=)
c.*1543T>C (n.*1543T>C)
c.*3067T>C (n.*3067T>C)
c.2817T>C (p.Ala939=)
c.834T>C (p.Ala278=)
c.893T>C
c.2025T>C (p.Ala675=)
c.3153T>C (p.Ala1051=)
c.68T>C
c.3333T>C (p.Ala1111=)
c.3000T>C (p.Ala1000=)
7g.117611684T>GCA457230038CFTRc.3243T>G (p.Ala1081=)
c.*2957T>G (n.*2957T>G)
c.3060T>G (p.Ala1020=)
c.*1543T>G (n.*1543T>G)
c.*3067T>G (n.*3067T>G)
c.2817T>G (p.Ala939=)
c.834T>G (p.Ala278=)
c.893T>G
c.2025T>G (p.Ala675=)
c.3153T>G (p.Ala1051=)
c.68T>G
c.3333T>G (p.Ala1111=)
c.3000T>G (p.Ala1000=)
7g.117611685C>ACA368992230CFTRc.3244C>A (p.Leu1082Met)
c.*2958C>A (n.*2958C>A)
c.3061C>A (p.Leu1021Met)
c.*1544C>A (n.*1544C>A)
c.*3068C>A (n.*3068C>A)
c.2818C>A (p.Leu940Met)
c.835C>A (p.Leu279Met)
c.894C>A
c.2026C>A (p.Leu676Met)
c.3154C>A (p.Leu1052Met)
c.69C>A
c.3334C>A (p.Leu1112Met)
c.3001C>A (p.Leu1001Met)
7g.117611685C>GCA368992232CFTRc.3244C>G (p.Leu1082Val)
c.*2958C>G (n.*2958C>G)
c.3061C>G (p.Leu1021Val)
c.*1544C>G (n.*1544C>G)
c.*3068C>G (n.*3068C>G)
c.2818C>G (p.Leu940Val)
c.835C>G (p.Leu279Val)
c.894C>G
c.2026C>G (p.Leu676Val)
c.3154C>G (p.Leu1052Val)
c.69C>G
c.3334C>G (p.Leu1112Val)
c.3001C>G (p.Leu1001Val)
7g.117611685C>TCA457230039CFTRc.3244C>T (p.Leu1082=)
c.*2958C>T (n.*2958C>T)
c.3061C>T (p.Leu1021=)
c.*1544C>T (n.*1544C>T)
c.*3068C>T (n.*3068C>T)
c.2818C>T (p.Leu940=)
c.835C>T (p.Leu279=)
c.894C>T
c.2026C>T (p.Leu676=)
c.3154C>T (p.Leu1052=)
c.69C>T
c.3334C>T (p.Leu1112=)
c.3001C>T (p.Leu1001=)
7g.117611686T>ACA368992233CFTRc.3245T>A (p.Leu1082Gln)
c.*2959T>A (n.*2959T>A)
c.3062T>A (p.Leu1021Gln)
c.*1545T>A (n.*1545T>A)
c.*3069T>A (n.*3069T>A)
c.2819T>A (p.Leu940Gln)
c.836T>A (p.Leu279Gln)
c.895T>A
c.2027T>A (p.Leu676Gln)
c.3155T>A (p.Leu1052Gln)
c.70T>A
c.3335T>A (p.Leu1112Gln)
c.3002T>A (p.Leu1001Gln)
7g.117611686T>CCA368992235CFTRc.3245T>C (p.Leu1082Pro)
c.*2959T>C (n.*2959T>C)
c.3062T>C (p.Leu1021Pro)
c.*1545T>C (n.*1545T>C)
c.*3069T>C (n.*3069T>C)
c.2819T>C (p.Leu940Pro)
c.836T>C (p.Leu279Pro)
c.895T>C
c.2027T>C (p.Leu676Pro)
c.3155T>C (p.Leu1052Pro)
c.70T>C
c.3335T>C (p.Leu1112Pro)
c.3002T>C (p.Leu1001Pro)
 gnomAD v4
7g.117611686T>GCA368992237CFTRc.3245T>G (p.Leu1082Arg)
c.*2959T>G (n.*2959T>G)
c.3062T>G (p.Leu1021Arg)
c.*1545T>G (n.*1545T>G)
c.*3069T>G (n.*3069T>G)
c.2819T>G (p.Leu940Arg)
c.836T>G (p.Leu279Arg)
c.895T>G
c.2027T>G (p.Leu676Arg)
c.3155T>G (p.Leu1052Arg)
c.70T>G
c.3335T>G (p.Leu1112Arg)
c.3002T>G (p.Leu1001Arg)
7g.117611687G>ACA457230040CFTRc.3246G>A (p.Leu1082=)
c.*2960G>A (n.*2960G>A)
c.3063G>A (p.Leu1021=)
c.*1546G>A (n.*1546G>A)
c.*3070G>A (n.*3070G>A)
c.2820G>A (p.Leu940=)
c.837G>A (p.Leu279=)
c.896G>A
c.2028G>A (p.Leu676=)
c.3156G>A (p.Leu1052=)
c.71G>A
c.3336G>A (p.Leu1112=)
c.3003G>A (p.Leu1001=)
7g.117611687G>CCA457230041CFTRc.3246G>C (p.Leu1082=)
c.*2960G>C (n.*2960G>C)
c.3063G>C (p.Leu1021=)
c.*1546G>C (n.*1546G>C)
c.*3070G>C (n.*3070G>C)
c.2820G>C (p.Leu940=)
c.837G>C (p.Leu279=)
c.896G>C
c.2028G>C (p.Leu676=)
c.3156G>C (p.Leu1052=)
c.71G>C
c.3336G>C (p.Leu1112=)
c.3003G>C (p.Leu1001=)
7g.117611687G=CA1737387142CFTRc.3246G= (p.Leu1082=)
c.*2960G= (n.*2960G=)
c.3063G= (p.Leu1021=)
c.*1546G= (n.*1546G=)
c.*3070G= (n.*3070G=)
c.2820G= (p.Leu940=)
c.837G= (p.Leu279=)
c.896G=
c.2028G= (p.Leu676=)
c.3156G= (p.Leu1052=)
c.71G=
c.3336G= (p.Leu1112=)
c.3003G= (p.Leu1001=)
7g.117611687G>TCA457230042CFTRc.3246G>T (p.Leu1082=)
c.*2960G>T (n.*2960G>T)
c.3063G>T (p.Leu1021=)
c.*1546G>T (n.*1546G>T)
c.*3070G>T (n.*3070G>T)
c.2820G>T (p.Leu940=)
c.837G>T (p.Leu279=)
c.896G>T
c.2028G>T (p.Leu676=)
c.3156G>T (p.Leu1052=)
c.71G>T
c.3336G>T (p.Leu1112=)
c.3003G>T (p.Leu1001=)
 dbSNP
7g.117611688A>CCA368992239CFTRc.3247A>C (p.Asn1083His)
c.*2961A>C (n.*2961A>C)
c.3064A>C (p.Asn1022His)
c.*1547A>C (n.*1547A>C)
c.*3071A>C (n.*3071A>C)
c.2821A>C (p.Asn941His)
c.838A>C (p.Asn280His)
c.897A>C
c.2029A>C (p.Asn677His)
c.3157A>C (p.Asn1053His)
c.72A>C
c.3337A>C (p.Asn1113His)
c.3004A>C (p.Asn1002His)
7g.117611688A>GCA368992240CFTRc.3247A>G (p.Asn1083Asp)
c.*2961A>G (n.*2961A>G)
c.3064A>G (p.Asn1022Asp)
c.*1547A>G (n.*1547A>G)
c.*3071A>G (n.*3071A>G)
c.2821A>G (p.Asn941Asp)
c.838A>G (p.Asn280Asp)
c.897A>G
c.2029A>G (p.Asn677Asp)
c.3157A>G (p.Asn1053Asp)
c.72A>G
c.3337A>G (p.Asn1113Asp)
c.3004A>G (p.Asn1002Asp)
 ClinVar
7g.117611688A>TCA368992242CFTRc.3247A>T (p.Asn1083Tyr)
c.*2961A>T (n.*2961A>T)
c.3064A>T (p.Asn1022Tyr)
c.*1547A>T (n.*1547A>T)
c.*3071A>T (n.*3071A>T)
c.2821A>T (p.Asn941Tyr)
c.838A>T (p.Asn280Tyr)
c.897A>T
c.2029A>T (p.Asn677Tyr)
c.3157A>T (p.Asn1053Tyr)
c.72A>T
c.3337A>T (p.Asn1113Tyr)
c.3004A>T (p.Asn1002Tyr)
7g.117611689A>CCA368992243CFTRc.3248A>C (p.Asn1083Thr)
c.*2962A>C (n.*2962A>C)
c.3065A>C (p.Asn1022Thr)
c.*1548A>C (n.*1548A>C)
c.*3072A>C (n.*3072A>C)
c.2822A>C (p.Asn941Thr)
c.839A>C (p.Asn280Thr)
c.898A>C
c.2030A>C (p.Asn677Thr)
c.3158A>C (p.Asn1053Thr)
c.73A>C
c.3338A>C (p.Asn1113Thr)
c.3005A>C (p.Asn1002Thr)
7g.117611689A>GCA368992245CFTRc.3248A>G (p.Asn1083Ser)
c.*2962A>G (n.*2962A>G)
c.3065A>G (p.Asn1022Ser)
c.*1548A>G (n.*1548A>G)
c.*3072A>G (n.*3072A>G)
c.2822A>G (p.Asn941Ser)
c.839A>G (p.Asn280Ser)
c.898A>G
c.2030A>G (p.Asn677Ser)
c.3158A>G (p.Asn1053Ser)
c.73A>G
c.3338A>G (p.Asn1113Ser)
c.3005A>G (p.Asn1002Ser)
7g.117611689A>TCA368992247CFTRc.3248A>T (p.Asn1083Ile)
c.*2962A>T (n.*2962A>T)
c.3065A>T (p.Asn1022Ile)
c.*1548A>T (n.*1548A>T)
c.*3072A>T (n.*3072A>T)
c.2822A>T (p.Asn941Ile)
c.839A>T (p.Asn280Ile)
c.898A>T
c.2030A>T (p.Asn677Ile)
c.3158A>T (p.Asn1053Ile)
c.73A>T
c.3338A>T (p.Asn1113Ile)
c.3005A>T (p.Asn1002Ile)
7g.117611690T>ACA368992248CFTRc.3249T>A (p.Asn1083Lys)
c.*2963T>A (n.*2963T>A)
c.3066T>A (p.Asn1022Lys)
c.*1549T>A (n.*1549T>A)
c.*3073T>A (n.*3073T>A)
c.2823T>A (p.Asn941Lys)
c.840T>A (p.Asn280Lys)
c.899T>A
c.2031T>A (p.Asn677Lys)
c.3159T>A (p.Asn1053Lys)
c.74T>A
c.3339T>A (p.Asn1113Lys)
c.3006T>A (p.Asn1002Lys)
 ClinVar dbSNP
7g.117611690T>CCA457230043CFTRc.3249T>C (p.Asn1083=)
c.*2963T>C (n.*2963T>C)
c.3066T>C (p.Asn1022=)
c.*1549T>C (n.*1549T>C)
c.*3073T>C (n.*3073T>C)
c.2823T>C (p.Asn941=)
c.840T>C (p.Asn280=)
c.899T>C
c.2031T>C (p.Asn677=)
c.3159T>C (p.Asn1053=)
c.74T>C
c.3339T>C (p.Asn1113=)
c.3006T>C (p.Asn1002=)
 ClinVar dbSNP
7g.117611690T>GCA368992250CFTRc.3249T>G (p.Asn1083Lys)
c.*2963T>G (n.*2963T>G)
c.3066T>G (p.Asn1022Lys)
c.*1549T>G (n.*1549T>G)
c.*3073T>G (n.*3073T>G)
c.2823T>G (p.Asn941Lys)
c.840T>G (p.Asn280Lys)
c.899T>G
c.2031T>G (p.Asn677Lys)
c.3159T>G (p.Asn1053Lys)
c.74T>G
c.3339T>G (p.Asn1113Lys)
c.3006T>G (p.Asn1002Lys)
7g.117611690T=CA1737387146CFTRc.3249T= (p.Asn1083=)
c.*2963T= (n.*2963T=)
c.3066T= (p.Asn1022=)
c.*1549T= (n.*1549T=)
c.*3073T= (n.*3073T=)
c.2823T= (p.Asn941=)
c.840T= (p.Asn280=)
c.899T=
c.2031T= (p.Asn677=)
c.3159T= (p.Asn1053=)
c.74T=
c.3339T= (p.Asn1113=)
c.3006T= (p.Asn1002=)
7g.117611691T>ACA368992252CFTRc.3250T>A (p.Leu1084Ile)
c.*2964T>A (n.*2964T>A)
c.3067T>A (p.Leu1023Ile)
c.*1550T>A (n.*1550T>A)
c.*3074T>A (n.*3074T>A)
c.2824T>A (p.Leu942Ile)
c.841T>A (p.Leu281Ile)
c.900T>A
c.2032T>A (p.Leu678Ile)
c.3160T>A (p.Leu1054Ile)
c.75T>A
c.3340T>A (p.Leu1114Ile)
c.3007T>A (p.Leu1003Ile)
7g.117611691T>CCA457230044CFTRc.3250T>C (p.Leu1084=)
c.*2964T>C (n.*2964T>C)
c.3067T>C (p.Leu1023=)
c.*1550T>C (n.*1550T>C)
c.*3074T>C (n.*3074T>C)
c.2824T>C (p.Leu942=)
c.841T>C (p.Leu281=)
c.900T>C
c.2032T>C (p.Leu678=)
c.3160T>C (p.Leu1054=)
c.75T>C
c.3340T>C (p.Leu1114=)
c.3007T>C (p.Leu1003=)
7g.117611691T>GCA368992253CFTRc.3250T>G (p.Leu1084Val)
c.*2964T>G (n.*2964T>G)
c.3067T>G (p.Leu1023Val)
c.*1550T>G (n.*1550T>G)
c.*3074T>G (n.*3074T>G)
c.2824T>G (p.Leu942Val)
c.841T>G (p.Leu281Val)
c.900T>G
c.2032T>G (p.Leu678Val)
c.3160T>G (p.Leu1054Val)
c.75T>G
c.3340T>G (p.Leu1114Val)
c.3007T>G (p.Leu1003Val)
7g.117611692T>ACA368992257CFTRc.3251T>A (p.Leu1084Ter)
c.*2965T>A (n.*2965T>A)
c.3068T>A (p.Leu1023Ter)
c.*1551T>A (n.*1551T>A)
c.*3075T>A (n.*3075T>A)
c.2825T>A (p.Leu942Ter)
c.842T>A (p.Leu281Ter)
c.901T>A
c.2033T>A (p.Leu678Ter)
c.3161T>A (p.Leu1054Ter)
c.76T>A
c.3341T>A (p.Leu1114Ter)
c.3008T>A (p.Leu1003Ter)
7g.117611692T>CCA368992258CFTRc.3251T>C (p.Leu1084Ser)
c.*2965T>C (n.*2965T>C)
c.3068T>C (p.Leu1023Ser)
c.*1551T>C (n.*1551T>C)
c.*3075T>C (n.*3075T>C)
c.2825T>C (p.Leu942Ser)
c.842T>C (p.Leu281Ser)
c.901T>C
c.2033T>C (p.Leu678Ser)
c.3161T>C (p.Leu1054Ser)
c.76T>C
c.3341T>C (p.Leu1114Ser)
c.3008T>C (p.Leu1003Ser)
7g.117611692T>GCA368992255CFTRc.3251T>G (p.Leu1084Ter)
c.*2965T>G (n.*2965T>G)
c.3068T>G (p.Leu1023Ter)
c.*1551T>G (n.*1551T>G)
c.*3075T>G (n.*3075T>G)
c.2825T>G (p.Leu942Ter)
c.842T>G (p.Leu281Ter)
c.901T>G
c.2033T>G (p.Leu678Ter)
c.3161T>G (p.Leu1054Ter)
c.76T>G
c.3341T>G (p.Leu1114Ter)
c.3008T>G (p.Leu1003Ter)
7g.117611693A=CA1737387150CFTRc.3252A= (p.Leu1084=)
c.*2966A= (n.*2966A=)
c.3069A= (p.Leu1023=)
c.*1552A= (n.*1552A=)
c.*3076A= (n.*3076A=)
c.2826A= (p.Leu942=)
c.843A= (p.Leu281=)
c.902A=
c.2034A= (p.Leu678=)
c.3162A= (p.Leu1054=)
c.77A=
c.3342A= (p.Leu1114=)
c.3009A= (p.Leu1003=)
7g.117611693A>CCA368992263CFTRc.3252A>C (p.Leu1084Phe)
c.*2966A>C (n.*2966A>C)
c.3069A>C (p.Leu1023Phe)
c.*1552A>C (n.*1552A>C)
c.*3076A>C (n.*3076A>C)
c.2826A>C (p.Leu942Phe)
c.843A>C (p.Leu281Phe)
c.902A>C
c.2034A>C (p.Leu678Phe)
c.3162A>C (p.Leu1054Phe)
c.77A>C
c.3342A>C (p.Leu1114Phe)
c.3009A>C (p.Leu1003Phe)
7g.117611693A>GCA164966497CFTRc.3252A>G (p.Leu1084=)
c.*2966A>G (n.*2966A>G)
c.3069A>G (p.Leu1023=)
c.*1552A>G (n.*1552A>G)
c.*3076A>G (n.*3076A>G)
c.2826A>G (p.Leu942=)
c.843A>G (p.Leu281=)
c.902A>G
c.2034A>G (p.Leu678=)
c.3162A>G (p.Leu1054=)
c.77A>G
c.3342A>G (p.Leu1114=)
c.3009A>G (p.Leu1003=)
 dbSNP
7g.117611693A>TCA368992261CFTRc.3252A>T (p.Leu1084Phe)
c.*2966A>T (n.*2966A>T)
c.3069A>T (p.Leu1023Phe)
c.*1552A>T (n.*1552A>T)
c.*3076A>T (n.*3076A>T)
c.2826A>T (p.Leu942Phe)
c.843A>T (p.Leu281Phe)
c.902A>T
c.2034A>T (p.Leu678Phe)
c.3162A>T (p.Leu1054Phe)
c.77A>T
c.3342A>T (p.Leu1114Phe)
c.3009A>T (p.Leu1003Phe)
7g.117611694C>ACA368992265CFTRc.3253C>A (p.His1085Asn)
c.*2967C>A (n.*2967C>A)
c.3070C>A (p.His1024Asn)
c.*1553C>A (n.*1553C>A)
c.*3077C>A (n.*3077C>A)
c.2827C>A (p.His943Asn)
c.1C>A (p.His1Asn)
c.844C>A (p.His282Asn)
c.903C>A
c.2035C>A (p.His679Asn)
c.3163C>A (p.His1055Asn)
c.78C>A
c.3343C>A (p.His1115Asn)
c.3010C>A (p.His1004Asn)
7g.117611694C>GCA368992267CFTRc.3253C>G (p.His1085Asp)
c.*2967C>G (n.*2967C>G)
c.3070C>G (p.His1024Asp)
c.*1553C>G (n.*1553C>G)
c.*3077C>G (n.*3077C>G)
c.2827C>G (p.His943Asp)
c.1C>G (p.His1Asp)
c.844C>G (p.His282Asp)
c.903C>G
c.2035C>G (p.His679Asp)
c.3163C>G (p.His1055Asp)
c.78C>G
c.3343C>G (p.His1115Asp)
c.3010C>G (p.His1004Asp)
7g.117611694C>TCA368992269CFTRc.3253C>T (p.His1085Tyr)
c.*2967C>T (n.*2967C>T)
c.3070C>T (p.His1024Tyr)
c.*1553C>T (n.*1553C>T)
c.*3077C>T (n.*3077C>T)
c.2827C>T (p.His943Tyr)
c.1C>T (p.His1Tyr)
c.844C>T (p.His282Tyr)
c.903C>T
c.2035C>T (p.His679Tyr)
c.3163C>T (p.His1055Tyr)
c.78C>T
c.3343C>T (p.His1115Tyr)
c.3010C>T (p.His1004Tyr)
7g.117611695A=CA1737387156CFTRc.3254A= (p.His1085=)
c.*2968A= (n.*2968A=)
c.3071A= (p.His1024=)
c.*1554A= (n.*1554A=)
c.*3078A= (n.*3078A=)
c.2828A= (p.His943=)
c.2A= (p.His1=)
c.845A= (p.His282=)
c.904A=
c.2036A= (p.His679=)
c.3164A= (p.His1055=)
c.79A=
c.3344A= (p.His1115=)
c.3011A= (p.His1004=)
7g.117611695A>CCA368992270CFTRc.3254A>C (p.His1085Pro)
c.*2968A>C (n.*2968A>C)
c.3071A>C (p.His1024Pro)
c.*1554A>C (n.*1554A>C)
c.*3078A>C (n.*3078A>C)
c.2828A>C (p.His943Pro)
c.2A>C (p.His1Pro)
c.845A>C (p.His282Pro)
c.904A>C
c.2036A>C (p.His679Pro)
c.3164A>C (p.His1055Pro)
c.79A>C
c.3344A>C (p.His1115Pro)
c.3011A>C (p.His1004Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611695A>GCA325598CFTRc.3254A>G (p.His1085Arg)
c.*2968A>G (n.*2968A>G)
c.3071A>G (p.His1024Arg)
c.*1554A>G (n.*1554A>G)
c.*3078A>G (n.*3078A>G)
c.2828A>G (p.His943Arg)
c.2A>G (p.His1Arg)
c.845A>G (p.His282Arg)
c.904A>G
c.2036A>G (p.His679Arg)
c.3164A>G (p.His1055Arg)
c.79A>G
c.3344A>G (p.His1115Arg)
c.3011A>G (p.His1004Arg)
 ClinVar dbSNP
7g.117611695A>TCA368992273CFTRc.3254A>T (p.His1085Leu)
c.*2968A>T (n.*2968A>T)
c.3071A>T (p.His1024Leu)
c.*1554A>T (n.*1554A>T)
c.*3078A>T (n.*3078A>T)
c.2828A>T (p.His943Leu)
c.2A>T (p.His1Leu)
c.845A>T (p.His282Leu)
c.904A>T
c.2036A>T (p.His679Leu)
c.3164A>T (p.His1055Leu)
c.79A>T
c.3344A>T (p.His1115Leu)
c.3011A>T (p.His1004Leu)
7g.117611696T>ACA368992275CFTRc.3255T>A (p.His1085Gln)
c.*2969T>A (n.*2969T>A)
c.3072T>A (p.His1024Gln)
c.*1555T>A (n.*1555T>A)
c.*3079T>A (n.*3079T>A)
c.2829T>A (p.His943Gln)
c.3T>A (p.His1Gln)
c.846T>A (p.His282Gln)
c.905T>A
c.2037T>A (p.His679Gln)
c.3165T>A (p.His1055Gln)
c.80T>A
c.3345T>A (p.His1115Gln)
c.3012T>A (p.His1004Gln)
7g.117611696T>CCA457230045CFTRc.3255T>C (p.His1085=)
c.*2969T>C (n.*2969T>C)
c.3072T>C (p.His1024=)
c.*1555T>C (n.*1555T>C)
c.*3079T>C (n.*3079T>C)
c.2829T>C (p.His943=)
c.3T>C (p.His1=)
c.846T>C (p.His282=)
c.905T>C
c.2037T>C (p.His679=)
c.3165T>C (p.His1055=)
c.80T>C
c.3345T>C (p.His1115=)
c.3012T>C (p.His1004=)
7g.117611696T>GCA368992276CFTRc.3255T>G (p.His1085Gln)
c.*2969T>G (n.*2969T>G)
c.3072T>G (p.His1024Gln)
c.*1555T>G (n.*1555T>G)
c.*3079T>G (n.*3079T>G)
c.2829T>G (p.His943Gln)
c.3T>G (p.His1Gln)
c.846T>G (p.His282Gln)
c.905T>G
c.2037T>G (p.His679Gln)
c.3165T>G (p.His1055Gln)
c.80T>G
c.3345T>G (p.His1115Gln)
c.3012T>G (p.His1004Gln)
7g.117611697A=CA1737387169CFTRc.3256A= (p.Thr1086=)
c.*2970A= (n.*2970A=)
c.3073A= (p.Thr1025=)
c.*1556A= (n.*1556A=)
c.*3080A= (n.*3080A=)
c.2830A= (p.Thr944=)
c.4A= (p.Thr2=)
c.847A= (p.Thr283=)
c.906A=
c.2038A= (p.Thr680=)
c.3166A= (p.Thr1056=)
c.81A=
c.3346A= (p.Thr1116=)
c.3013A= (p.Thr1005=)
7g.117611697A>CCA368992279CFTRc.3256A>C (p.Thr1086Pro)
c.*2970A>C (n.*2970A>C)
c.3073A>C (p.Thr1025Pro)
c.*1556A>C (n.*1556A>C)
c.*3080A>C (n.*3080A>C)
c.2830A>C (p.Thr944Pro)
c.4A>C (p.Thr2Pro)
c.847A>C (p.Thr283Pro)
c.906A>C
c.2038A>C (p.Thr680Pro)
c.3166A>C (p.Thr1056Pro)
c.81A>C
c.3346A>C (p.Thr1116Pro)
c.3013A>C (p.Thr1005Pro)
7g.117611697A>GCA368992280CFTRc.3256A>G (p.Thr1086Ala)
c.*2970A>G (n.*2970A>G)
c.3073A>G (p.Thr1025Ala)
c.*1556A>G (n.*1556A>G)
c.*3080A>G (n.*3080A>G)
c.2830A>G (p.Thr944Ala)
c.4A>G (p.Thr2Ala)
c.847A>G (p.Thr283Ala)
c.906A>G
c.2038A>G (p.Thr680Ala)
c.3166A>G (p.Thr1056Ala)
c.81A>G
c.3346A>G (p.Thr1116Ala)
c.3013A>G (p.Thr1005Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611697A>TCA16612278CFTRc.3256A>T (p.Thr1086Ser)
c.*2970A>T (n.*2970A>T)
c.3073A>T (p.Thr1025Ser)
c.*1556A>T (n.*1556A>T)
c.*3080A>T (n.*3080A>T)
c.2830A>T (p.Thr944Ser)
c.4A>T (p.Thr2Ser)
c.847A>T (p.Thr283Ser)
c.906A>T
c.2038A>T (p.Thr680Ser)
c.3166A>T (p.Thr1056Ser)
c.81A>T
c.3346A>T (p.Thr1116Ser)
c.3013A>T (p.Thr1005Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611698C>ACA368992286CFTRc.3257C>A (p.Thr1086Asn)
c.*2971C>A (n.*2971C>A)
c.3074C>A (p.Thr1025Asn)
c.*1557C>A (n.*1557C>A)
c.*3081C>A (n.*3081C>A)
c.2831C>A (p.Thr944Asn)
c.5C>A (p.Thr2Asn)
c.848C>A (p.Thr283Asn)
c.907C>A
c.2039C>A (p.Thr680Asn)
c.3167C>A (p.Thr1056Asn)
c.82C>A
c.3347C>A (p.Thr1116Asn)
c.3014C>A (p.Thr1005Asn)
7g.117611698C=CA1737387180CFTRc.3257C= (p.Thr1086=)
c.*2971C= (n.*2971C=)
c.3074C= (p.Thr1025=)
c.*1557C= (n.*1557C=)
c.*3081C= (n.*3081C=)
c.2831C= (p.Thr944=)
c.5C= (p.Thr2=)
c.848C= (p.Thr283=)
c.907C=
c.2039C= (p.Thr680=)
c.3167C= (p.Thr1056=)
c.82C=
c.3347C= (p.Thr1116=)
c.3014C= (p.Thr1005=)
7g.117611698C>GCA368992283CFTRc.3257C>G (p.Thr1086Ser)
c.*2971C>G (n.*2971C>G)
c.3074C>G (p.Thr1025Ser)
c.*1557C>G (n.*1557C>G)
c.*3081C>G (n.*3081C>G)
c.2831C>G (p.Thr944Ser)
c.5C>G (p.Thr2Ser)
c.848C>G (p.Thr283Ser)
c.907C>G
c.2039C>G (p.Thr680Ser)
c.3167C>G (p.Thr1056Ser)
c.82C>G
c.3347C>G (p.Thr1116Ser)
c.3014C>G (p.Thr1005Ser)
7g.117611698C>TCA327112CFTRc.3257C>T (p.Thr1086Ile)
c.*2971C>T (n.*2971C>T)
c.3074C>T (p.Thr1025Ile)
c.*1557C>T (n.*1557C>T)
c.*3081C>T (n.*3081C>T)
c.2831C>T (p.Thr944Ile)
c.5C>T (p.Thr2Ile)
c.848C>T (p.Thr283Ile)
c.907C>T
c.2039C>T (p.Thr680Ile)
c.3167C>T (p.Thr1056Ile)
c.82C>T
c.3347C>T (p.Thr1116Ile)
c.3014C>T (p.Thr1005Ile)
 ClinVar dbSNP
7g.117611699T>ACA457230047CFTRc.3258T>A (p.Thr1086=)
c.*2972T>A (n.*2972T>A)
c.3075T>A (p.Thr1025=)
c.*1558T>A (n.*1558T>A)
c.*3082T>A (n.*3082T>A)
c.2832T>A (p.Thr944=)
c.6T>A (p.Thr2=)
c.849T>A (p.Thr283=)
c.908T>A
c.2040T>A (p.Thr680=)
c.3168T>A (p.Thr1056=)
c.83T>A
c.3348T>A (p.Thr1116=)
c.3015T>A (p.Thr1005=)
7g.117611699T>CCA457230048CFTRc.3258T>C (p.Thr1086=)
c.*2972T>C (n.*2972T>C)
c.3075T>C (p.Thr1025=)
c.*1558T>C (n.*1558T>C)
c.*3082T>C (n.*3082T>C)
c.2832T>C (p.Thr944=)
c.6T>C (p.Thr2=)
c.849T>C (p.Thr283=)
c.908T>C
c.2040T>C (p.Thr680=)
c.3168T>C (p.Thr1056=)
c.83T>C
c.3348T>C (p.Thr1116=)
c.3015T>C (p.Thr1005=)
 dbSNP gnomAD v2 gnomAD v4
7g.117611699T>GCA457230046CFTRc.3258T>G (p.Thr1086=)
c.*2972T>G (n.*2972T>G)
c.3075T>G (p.Thr1025=)
c.*1558T>G (n.*1558T>G)
c.*3082T>G (n.*3082T>G)
c.2832T>G (p.Thr944=)
c.6T>G (p.Thr2=)
c.849T>G (p.Thr283=)
c.908T>G
c.2040T>G (p.Thr680=)
c.3168T>G (p.Thr1056=)
c.83T>G
c.3348T>G (p.Thr1116=)
c.3015T>G (p.Thr1005=)
7g.117611699T=CA1737387186CFTRc.3258T= (p.Thr1086=)
c.*2972T= (n.*2972T=)
c.3075T= (p.Thr1025=)
c.*1558T= (n.*1558T=)
c.*3082T= (n.*3082T=)
c.2832T= (p.Thr944=)
c.6T= (p.Thr2=)
c.849T= (p.Thr283=)
c.908T=
c.2040T= (p.Thr680=)
c.3168T= (p.Thr1056=)
c.83T=
c.3348T= (p.Thr1116=)
c.3015T= (p.Thr1005=)
7g.117611700G>ACA368992287CFTRc.3259G>A (p.Ala1087Thr)
c.*2973G>A (n.*2973G>A)
c.3076G>A (p.Ala1026Thr)
c.*1559G>A (n.*1559G>A)
c.*3083G>A (n.*3083G>A)
c.2833G>A (p.Ala945Thr)
c.7G>A (p.Ala3Thr)
c.850G>A (p.Ala284Thr)
c.909G>A
c.2041G>A (p.Ala681Thr)
c.3169G>A (p.Ala1057Thr)
c.84G>A
c.3349G>A (p.Ala1117Thr)
c.3016G>A (p.Ala1006Thr)
7g.117611700G>CCA368992288CFTRc.3259G>C (p.Ala1087Pro)
c.*2973G>C (n.*2973G>C)
c.3076G>C (p.Ala1026Pro)
c.*1559G>C (n.*1559G>C)
c.*3083G>C (n.*3083G>C)
c.2833G>C (p.Ala945Pro)
c.7G>C (p.Ala3Pro)
c.850G>C (p.Ala284Pro)
c.909G>C
c.2041G>C (p.Ala681Pro)
c.3169G>C (p.Ala1057Pro)
c.84G>C
c.3349G>C (p.Ala1117Pro)
c.3016G>C (p.Ala1006Pro)
 ClinVar dbSNP gnomAD v4
7g.117611700G=CA1737387190CFTRc.3259G= (p.Ala1087=)
c.*2973G= (n.*2973G=)
c.3076G= (p.Ala1026=)
c.*1559G= (n.*1559G=)
c.*3083G= (n.*3083G=)
c.2833G= (p.Ala945=)
c.7G= (p.Ala3=)
c.850G= (p.Ala284=)
c.909G=
c.2041G= (p.Ala681=)
c.3169G= (p.Ala1057=)
c.84G=
c.3349G= (p.Ala1117=)
c.3016G= (p.Ala1006=)
7g.117611700G>TCA164966526CFTRc.3259G>T (p.Ala1087Ser)
c.*2973G>T (n.*2973G>T)
c.3076G>T (p.Ala1026Ser)
c.*1559G>T (n.*1559G>T)
c.*3083G>T (n.*3083G>T)
c.2833G>T (p.Ala945Ser)
c.7G>T (p.Ala3Ser)
c.850G>T (p.Ala284Ser)
c.909G>T
c.2041G>T (p.Ala681Ser)
c.3169G>T (p.Ala1057Ser)
c.84G>T
c.3349G>T (p.Ala1117Ser)
c.3016G>T (p.Ala1006Ser)
 dbSNP
7g.117611701C>ACA368992290CFTRc.3260C>A (p.Ala1087Asp)
c.*2974C>A (n.*2974C>A)
c.3077C>A (p.Ala1026Asp)
c.*1560C>A (n.*1560C>A)
c.*3084C>A (n.*3084C>A)
c.2834C>A (p.Ala945Asp)
c.8C>A (p.Ala3Asp)
c.851C>A (p.Ala284Asp)
c.910C>A
c.2042C>A (p.Ala681Asp)
c.3170C>A (p.Ala1057Asp)
c.85C>A
c.3350C>A (p.Ala1117Asp)
c.3017C>A (p.Ala1006Asp)
7g.117611701C=CA1737387195CFTRc.3260C= (p.Ala1087=)
c.*2974C= (n.*2974C=)
c.3077C= (p.Ala1026=)
c.*1560C= (n.*1560C=)
c.*3084C= (n.*3084C=)
c.2834C= (p.Ala945=)
c.8C= (p.Ala3=)
c.851C= (p.Ala284=)
c.910C=
c.2042C= (p.Ala681=)
c.3170C= (p.Ala1057=)
c.85C=
c.3350C= (p.Ala1117=)
c.3017C= (p.Ala1006=)
7g.117611701C>GCA368992291CFTRc.3260C>G (p.Ala1087Gly)
c.*2974C>G (n.*2974C>G)
c.3077C>G (p.Ala1026Gly)
c.*1560C>G (n.*1560C>G)
c.*3084C>G (n.*3084C>G)
c.2834C>G (p.Ala945Gly)
c.8C>G (p.Ala3Gly)
c.851C>G (p.Ala284Gly)
c.910C>G
c.2042C>G (p.Ala681Gly)
c.3170C>G (p.Ala1057Gly)
c.85C>G
c.3350C>G (p.Ala1117Gly)
c.3017C>G (p.Ala1006Gly)
7g.117611701C>TCA164966544CFTRc.3260C>T (p.Ala1087Val)
c.*2974C>T (n.*2974C>T)
c.3077C>T (p.Ala1026Val)
c.*1560C>T (n.*1560C>T)
c.*3084C>T (n.*3084C>T)
c.2834C>T (p.Ala945Val)
c.8C>T (p.Ala3Val)
c.851C>T (p.Ala284Val)
c.910C>T
c.2042C>T (p.Ala681Val)
c.3170C>T (p.Ala1057Val)
c.85C>T
c.3350C>T (p.Ala1117Val)
c.3017C>T (p.Ala1006Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117611702C>ACA457230049CFTRc.3261C>A (p.Ala1087=)
c.*2975C>A (n.*2975C>A)
c.3078C>A (p.Ala1026=)
c.*1561C>A (n.*1561C>A)
c.*3085C>A (n.*3085C>A)
c.2835C>A (p.Ala945=)
c.9C>A (p.Ala3=)
c.852C>A (p.Ala284=)
c.911C>A
c.2043C>A (p.Ala681=)
c.3171C>A (p.Ala1057=)
c.86C>A
c.3351C>A (p.Ala1117=)
c.3018C>A (p.Ala1006=)
7g.117611702C=CA1737387198CFTRc.3261C= (p.Ala1087=)
c.*2975C= (n.*2975C=)
c.3078C= (p.Ala1026=)
c.*1561C= (n.*1561C=)
c.*3085C= (n.*3085C=)
c.2835C= (p.Ala945=)
c.9C= (p.Ala3=)
c.852C= (p.Ala284=)
c.911C=
c.2043C= (p.Ala681=)
c.3171C= (p.Ala1057=)
c.86C=
c.3351C= (p.Ala1117=)
c.3018C= (p.Ala1006=)
7g.117611702C>GCA457230050CFTRc.3261C>G (p.Ala1087=)
c.*2975C>G (n.*2975C>G)
c.3078C>G (p.Ala1026=)
c.*1561C>G (n.*1561C>G)
c.*3085C>G (n.*3085C>G)
c.2835C>G (p.Ala945=)
c.9C>G (p.Ala3=)
c.852C>G (p.Ala284=)
c.911C>G
c.2043C>G (p.Ala681=)
c.3171C>G (p.Ala1057=)
c.86C>G
c.3351C>G (p.Ala1117=)
c.3018C>G (p.Ala1006=)
7g.117611702C>TCA457230051CFTRc.3261C>T (p.Ala1087=)
c.*2975C>T (n.*2975C>T)
c.3078C>T (p.Ala1026=)
c.*1561C>T (n.*1561C>T)
c.*3085C>T (n.*3085C>T)
c.2835C>T (p.Ala945=)
c.9C>T (p.Ala3=)
c.852C>T (p.Ala284=)
c.911C>T
c.2043C>T (p.Ala681=)
c.3171C>T (p.Ala1057=)
c.86C>T
c.3351C>T (p.Ala1117=)
c.3018C>T (p.Ala1006=)
7g.117611703A=CA1737387204CFTRc.3262A= (p.Asn1088=)
c.*2976A= (n.*2976A=)
c.3079A= (p.Asn1027=)
c.*1562A= (n.*1562A=)
c.*3086A= (n.*3086A=)
c.2836A= (p.Asn946=)
c.10A= (p.Asn4=)
c.853A= (p.Asn285=)
c.912A=
c.2044A= (p.Asn682=)
c.3172A= (p.Asn1058=)
c.87A=
c.3352A= (p.Asn1118=)
c.3019A= (p.Asn1007=)
7g.117611703A>CCA368992294CFTRc.3262A>C (p.Asn1088His)
c.*2976A>C (n.*2976A>C)
c.3079A>C (p.Asn1027His)
c.*1562A>C (n.*1562A>C)
c.*3086A>C (n.*3086A>C)
c.2836A>C (p.Asn946His)
c.10A>C (p.Asn4His)
c.853A>C (p.Asn285His)
c.912A>C
c.2044A>C (p.Asn682His)
c.3172A>C (p.Asn1058His)
c.87A>C
c.3352A>C (p.Asn1118His)
c.3019A>C (p.Asn1007His)
 gnomAD v4
7g.117611703A>GCA327116CFTRc.3262A>G (p.Asn1088Asp)
c.*2976A>G (n.*2976A>G)
c.3079A>G (p.Asn1027Asp)
c.*1562A>G (n.*1562A>G)
c.*3086A>G (n.*3086A>G)
c.2836A>G (p.Asn946Asp)
c.10A>G (p.Asn4Asp)
c.853A>G (p.Asn285Asp)
c.912A>G
c.2044A>G (p.Asn682Asp)
c.3172A>G (p.Asn1058Asp)
c.87A>G
c.3352A>G (p.Asn1118Asp)
c.3019A>G (p.Asn1007Asp)
 ClinVar dbSNP gnomAD v4
7g.117611703A>TCA368992296CFTRc.3262A>T (p.Asn1088Tyr)
c.*2976A>T (n.*2976A>T)
c.3079A>T (p.Asn1027Tyr)
c.*1562A>T (n.*1562A>T)
c.*3086A>T (n.*3086A>T)
c.2836A>T (p.Asn946Tyr)
c.10A>T (p.Asn4Tyr)
c.853A>T (p.Asn285Tyr)
c.912A>T
c.2044A>T (p.Asn682Tyr)
c.3172A>T (p.Asn1058Tyr)
c.87A>T
c.3352A>T (p.Asn1118Tyr)
c.3019A>T (p.Asn1007Tyr)
7g.117611704dupCA327118CFTRc.3263dup (p.Asn1088LysfsTer?)
c.*2977dup (n.*2977dup)
c.3080dup (p.Asn1027LysfsTer?)
c.*1563dup (n.*1563dup)
c.*3087dup (n.*3087dup)
c.2837dup (p.Asn946LysfsTer?)
c.11dup (p.Asn4LysfsTer?)
c.854dup (p.Asn285LysfsTer?)
c.913dup
c.2045dup (p.Asn682LysfsTer?)
c.3173dup (p.Asn1058LysfsTer?)
c.88dup
c.3353dup (p.Asn1118LysfsTer?)
c.3020dup (p.Asn1007LysfsTer?)
 ClinVar dbSNP
7g.117611704A=CA1737387221CFTRc.3263A= (p.Asn1088=)
c.*2977A= (n.*2977A=)
c.3080A= (p.Asn1027=)
c.*1563A= (n.*1563A=)
c.*3087A= (n.*3087A=)
c.2837A= (p.Asn946=)
c.11A= (p.Asn4=)
c.854A= (p.Asn285=)
c.913A=
c.2045A= (p.Asn682=)
c.3173A= (p.Asn1058=)
c.88A=
c.3353A= (p.Asn1118=)
c.3020A= (p.Asn1007=)
7g.117611704A>CCA368992297CFTRc.3263A>C (p.Asn1088Thr)
c.*2977A>C (n.*2977A>C)
c.3080A>C (p.Asn1027Thr)
c.*1563A>C (n.*1563A>C)
c.*3087A>C (n.*3087A>C)
c.2837A>C (p.Asn946Thr)
c.11A>C (p.Asn4Thr)
c.854A>C (p.Asn285Thr)
c.913A>C
c.2045A>C (p.Asn682Thr)
c.3173A>C (p.Asn1058Thr)
c.88A>C
c.3353A>C (p.Asn1118Thr)
c.3020A>C (p.Asn1007Thr)
7g.117611704A>GCA368992298CFTRc.3263A>G (p.Asn1088Ser)
c.*2977A>G (n.*2977A>G)
c.3080A>G (p.Asn1027Ser)
c.*1563A>G (n.*1563A>G)
c.*3087A>G (n.*3087A>G)
c.2837A>G (p.Asn946Ser)
c.11A>G (p.Asn4Ser)
c.854A>G (p.Asn285Ser)
c.913A>G
c.2045A>G (p.Asn682Ser)
c.3173A>G (p.Asn1058Ser)
c.88A>G
c.3353A>G (p.Asn1118Ser)
c.3020A>G (p.Asn1007Ser)
 dbSNP gnomAD v4 COSMIC
7g.117611704A>TCA368992299CFTRc.3263A>T (p.Asn1088Ile)
c.*2977A>T (n.*2977A>T)
c.3080A>T (p.Asn1027Ile)
c.*1563A>T (n.*1563A>T)
c.*3087A>T (n.*3087A>T)
c.2837A>T (p.Asn946Ile)
c.11A>T (p.Asn4Ile)
c.854A>T (p.Asn285Ile)
c.913A>T
c.2045A>T (p.Asn682Ile)
c.3173A>T (p.Asn1058Ile)
c.88A>T
c.3353A>T (p.Asn1118Ile)
c.3020A>T (p.Asn1007Ile)
7g.117611704_117611705delinsACCA1737387218CFTRc.3263_3264delinsAC (p.Asn1088=)
c.*2977_*2978delinsAC (n.*2977_*2978delinsAC)
c.3080_3081delinsAC (p.Asn1027=)
c.*1563_*1564delinsAC (n.*1563_*1564delinsAC)
c.*3087_*3088delinsAC (n.*3087_*3088delinsAC)
c.2837_2838delinsAC (p.Asn946=)
c.11_12delinsAC (p.Asn4=)
c.854_855delinsAC (p.Asn285=)
c.913_914delinsAC
c.2045_2046delinsAC (p.Asn682=)
c.3173_3174delinsAC (p.Asn1058=)
c.88_89delinsAC
c.3353_3354delinsAC (p.Asn1118=)
c.3020_3021delinsAC (p.Asn1007=)
7g.117611705delCA327119CFTRc.3264del (p.Trp1089GlyfsTer13)
c.*2978del (n.*2978del)
c.3081del (p.Trp1028GlyfsTer13)
c.*1564del (n.*1564del)
c.*3088del (n.*3088del)
c.2838del (p.Trp947GlyfsTer13)
c.12del (p.Trp5GlyfsTer13)
c.855del (p.Trp286GlyfsTer13)
c.914del
c.2046del (p.Trp683GlyfsTer13)
c.3174del (p.Trp1059GlyfsTer13)
c.89del
c.3354del (p.Trp1119GlyfsTer13)
c.3021del (p.Trp1008GlyfsTer13)
 ClinVar dbSNP
7g.117611705C>ACA368992304CFTRc.3264C>A (p.Asn1088Lys)
c.*2978C>A (n.*2978C>A)
c.3081C>A (p.Asn1027Lys)
c.*1564C>A (n.*1564C>A)
c.*3088C>A (n.*3088C>A)
c.2838C>A (p.Asn946Lys)
c.12C>A (p.Asn4Lys)
c.855C>A (p.Asn285Lys)
c.914C>A
c.2046C>A (p.Asn682Lys)
c.3174C>A (p.Asn1058Lys)
c.89C>A
c.3354C>A (p.Asn1118Lys)
c.3021C>A (p.Asn1007Lys)
7g.117611705C>GCA368992302CFTRc.3264C>G (p.Asn1088Lys)
c.*2978C>G (n.*2978C>G)
c.3081C>G (p.Asn1027Lys)
c.*1564C>G (n.*1564C>G)
c.*3088C>G (n.*3088C>G)
c.2838C>G (p.Asn946Lys)
c.12C>G (p.Asn4Lys)
c.855C>G (p.Asn285Lys)
c.914C>G
c.2046C>G (p.Asn682Lys)
c.3174C>G (p.Asn1058Lys)
c.89C>G
c.3354C>G (p.Asn1118Lys)
c.3021C>G (p.Asn1007Lys)
7g.117611705C>TCA457230052CFTRc.3264C>T (p.Asn1088=)
c.*2978C>T (n.*2978C>T)
c.3081C>T (p.Asn1027=)
c.*1564C>T (n.*1564C>T)
c.*3088C>T (n.*3088C>T)
c.2838C>T (p.Asn946=)
c.12C>T (p.Asn4=)
c.855C>T (p.Asn285=)
c.914C>T
c.2046C>T (p.Asn682=)
c.3174C>T (p.Asn1058=)
c.89C>T
c.3354C>T (p.Asn1118=)
c.3021C>T (p.Asn1007=)
7g.117611706T>ACA368992305CFTRc.3265T>A (p.Trp1089Arg)
c.*2979T>A (n.*2979T>A)
c.3082T>A (p.Trp1028Arg)
c.*1565T>A (n.*1565T>A)
c.*3089T>A (n.*3089T>A)
c.2839T>A (p.Trp947Arg)
c.13T>A (p.Trp5Arg)
c.856T>A (p.Trp286Arg)
c.915T>A
c.2047T>A (p.Trp683Arg)
c.3175T>A (p.Trp1059Arg)
c.90T>A
c.3355T>A (p.Trp1119Arg)
c.3022T>A (p.Trp1008Arg)
7g.117611706T>CCA368992309CFTRc.3265T>C (p.Trp1089Arg)
c.*2979T>C (n.*2979T>C)
c.3082T>C (p.Trp1028Arg)
c.*1565T>C (n.*1565T>C)
c.*3089T>C (n.*3089T>C)
c.2839T>C (p.Trp947Arg)
c.13T>C (p.Trp5Arg)
c.856T>C (p.Trp286Arg)
c.915T>C
c.2047T>C (p.Trp683Arg)
c.3175T>C (p.Trp1059Arg)
c.90T>C
c.3355T>C (p.Trp1119Arg)
c.3022T>C (p.Trp1008Arg)
7g.117611706T>GCA368992307CFTRc.3265T>G (p.Trp1089Gly)
c.*2979T>G (n.*2979T>G)
c.3082T>G (p.Trp1028Gly)
c.*1565T>G (n.*1565T>G)
c.*3089T>G (n.*3089T>G)
c.2839T>G (p.Trp947Gly)
c.13T>G (p.Trp5Gly)
c.856T>G (p.Trp286Gly)
c.915T>G
c.2047T>G (p.Trp683Gly)
c.3175T>G (p.Trp1059Gly)
c.90T>G
c.3355T>G (p.Trp1119Gly)
c.3022T>G (p.Trp1008Gly)
7g.117611707G>ACA340653CFTRc.3266G>A (p.Trp1089Ter)
c.*2980G>A (n.*2980G>A)
c.3083G>A (p.Trp1028Ter)
c.*1566G>A (n.*1566G>A)
c.*3090G>A (n.*3090G>A)
c.2840G>A (p.Trp947Ter)
c.14G>A (p.Trp5Ter)
c.857G>A (p.Trp286Ter)
c.916G>A
c.2048G>A (p.Trp683Ter)
c.3176G>A (p.Trp1059Ter)
c.91G>A
c.3356G>A (p.Trp1119Ter)
c.3023G>A (p.Trp1008Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611707G>CCA368992312CFTRc.3266G>C (p.Trp1089Ser)
c.*2980G>C (n.*2980G>C)
c.3083G>C (p.Trp1028Ser)
c.*1566G>C (n.*1566G>C)
c.*3090G>C (n.*3090G>C)
c.2840G>C (p.Trp947Ser)
c.14G>C (p.Trp5Ser)
c.857G>C (p.Trp286Ser)
c.916G>C
c.2048G>C (p.Trp683Ser)
c.3176G>C (p.Trp1059Ser)
c.91G>C
c.3356G>C (p.Trp1119Ser)
c.3023G>C (p.Trp1008Ser)
7g.117611707G=CA1737387240CFTRc.3266G= (p.Trp1089=)
c.*2980G= (n.*2980G=)
c.3083G= (p.Trp1028=)
c.*1566G= (n.*1566G=)
c.*3090G= (n.*3090G=)
c.2840G= (p.Trp947=)
c.14G= (p.Trp5=)
c.857G= (p.Trp286=)
c.916G=
c.2048G= (p.Trp683=)
c.3176G= (p.Trp1059=)
c.91G=
c.3356G= (p.Trp1119=)
c.3023G= (p.Trp1008=)
7g.117611707G>TCA368992313CFTRc.3266G>T (p.Trp1089Leu)
c.*2980G>T (n.*2980G>T)
c.3083G>T (p.Trp1028Leu)
c.*1566G>T (n.*1566G>T)
c.*3090G>T (n.*3090G>T)
c.2840G>T (p.Trp947Leu)
c.14G>T (p.Trp5Leu)
c.857G>T (p.Trp286Leu)
c.916G>T
c.2048G>T (p.Trp683Leu)
c.3176G>T (p.Trp1059Leu)
c.91G>T
c.3356G>T (p.Trp1119Leu)
c.3023G>T (p.Trp1008Leu)
 ClinVar gnomAD v4
7g.117611708G>ACA368992315CFTRc.3267G>A (p.Trp1089Ter)
c.*2981G>A (n.*2981G>A)
c.3084G>A (p.Trp1028Ter)
c.*1567G>A (n.*1567G>A)
c.*3091G>A (n.*3091G>A)
c.2841G>A (p.Trp947Ter)
c.15G>A (p.Trp5Ter)
c.858G>A (p.Trp286Ter)
c.917G>A
c.2049G>A (p.Trp683Ter)
c.3177G>A (p.Trp1059Ter)
c.92G>A
c.3357G>A (p.Trp1119Ter)
c.3024G>A (p.Trp1008Ter)
 ClinVar dbSNP
7g.117611708G>CCA4451413CFTRc.3267G>C (p.Trp1089Cys)
c.*2981G>C (n.*2981G>C)
c.3084G>C (p.Trp1028Cys)
c.*1567G>C (n.*1567G>C)
c.*3091G>C (n.*3091G>C)
c.2841G>C (p.Trp947Cys)
c.15G>C (p.Trp5Cys)
c.858G>C (p.Trp286Cys)
c.917G>C
c.2049G>C (p.Trp683Cys)
c.3177G>C (p.Trp1059Cys)
c.92G>C
c.3357G>C (p.Trp1119Cys)
c.3024G>C (p.Trp1008Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611708G=CA1737387253CFTRc.3267G= (p.Trp1089=)
c.*2981G= (n.*2981G=)
c.3084G= (p.Trp1028=)
c.*1567G= (n.*1567G=)
c.*3091G= (n.*3091G=)
c.2841G= (p.Trp947=)
c.15G= (p.Trp5=)
c.858G= (p.Trp286=)
c.917G=
c.2049G= (p.Trp683=)
c.3177G= (p.Trp1059=)
c.92G=
c.3357G= (p.Trp1119=)
c.3024G= (p.Trp1008=)
7g.117611708G>TCA368992318CFTRc.3267G>T (p.Trp1089Cys)
c.*2981G>T (n.*2981G>T)
c.3084G>T (p.Trp1028Cys)
c.*1567G>T (n.*1567G>T)
c.*3091G>T (n.*3091G>T)
c.2841G>T (p.Trp947Cys)
c.15G>T (p.Trp5Cys)
c.858G>T (p.Trp286Cys)
c.917G>T
c.2049G>T (p.Trp683Cys)
c.3177G>T (p.Trp1059Cys)
c.92G>T
c.3357G>T (p.Trp1119Cys)
c.3024G>T (p.Trp1008Cys)
7g.117611709T>ACA368992319CFTRc.3268T>A (p.Phe1090Ile)
c.*2982T>A (n.*2982T>A)
c.3085T>A (p.Phe1029Ile)
c.*1568T>A (n.*1568T>A)
c.*3092T>A (n.*3092T>A)
c.2842T>A (p.Phe948Ile)
c.16T>A (p.Phe6Ile)
c.859T>A (p.Phe287Ile)
c.918T>A
c.2050T>A (p.Phe684Ile)
c.3178T>A (p.Phe1060Ile)
c.93T>A
c.3358T>A (p.Phe1120Ile)
c.3025T>A (p.Phe1009Ile)
7g.117611709T>CCA368992320CFTRc.3268T>C (p.Phe1090Leu)
c.*2982T>C (n.*2982T>C)
c.3085T>C (p.Phe1029Leu)
c.*1568T>C (n.*1568T>C)
c.*3092T>C (n.*3092T>C)
c.2842T>C (p.Phe948Leu)
c.16T>C (p.Phe6Leu)
c.859T>C (p.Phe287Leu)
c.918T>C
c.2050T>C (p.Phe684Leu)
c.3178T>C (p.Phe1060Leu)
c.93T>C
c.3358T>C (p.Phe1120Leu)
c.3025T>C (p.Phe1009Leu)
7g.117611709T>GCA368992322CFTRc.3268T>G (p.Phe1090Val)
c.*2982T>G (n.*2982T>G)
c.3085T>G (p.Phe1029Val)
c.*1568T>G (n.*1568T>G)
c.*3092T>G (n.*3092T>G)
c.2842T>G (p.Phe948Val)
c.16T>G (p.Phe6Val)
c.859T>G (p.Phe287Val)
c.918T>G
c.2050T>G (p.Phe684Val)
c.3178T>G (p.Phe1060Val)
c.93T>G
c.3358T>G (p.Phe1120Val)
c.3025T>G (p.Phe1009Val)
7g.117611710T>ACA368992325CFTRc.3269T>A (p.Phe1090Tyr)
c.*2983T>A (n.*2983T>A)
c.3086T>A (p.Phe1029Tyr)
c.*1569T>A (n.*1569T>A)
c.*3093T>A (n.*3093T>A)
c.2843T>A (p.Phe948Tyr)
c.17T>A (p.Phe6Tyr)
c.860T>A (p.Phe287Tyr)
c.919T>A
c.2051T>A (p.Phe684Tyr)
c.3179T>A (p.Phe1060Tyr)
c.94T>A
c.3359T>A (p.Phe1120Tyr)
c.3026T>A (p.Phe1009Tyr)
7g.117611710T>CCA368992326CFTRc.3269T>C (p.Phe1090Ser)
c.*2983T>C (n.*2983T>C)
c.3086T>C (p.Phe1029Ser)
c.*1569T>C (n.*1569T>C)
c.*3093T>C (n.*3093T>C)
c.2843T>C (p.Phe948Ser)
c.17T>C (p.Phe6Ser)
c.860T>C (p.Phe287Ser)
c.919T>C
c.2051T>C (p.Phe684Ser)
c.3179T>C (p.Phe1060Ser)
c.94T>C
c.3359T>C (p.Phe1120Ser)
c.3026T>C (p.Phe1009Ser)
7g.117611710T>GCA368992328CFTRc.3269T>G (p.Phe1090Cys)
c.*2983T>G (n.*2983T>G)
c.3086T>G (p.Phe1029Cys)
c.*1569T>G (n.*1569T>G)
c.*3093T>G (n.*3093T>G)
c.2843T>G (p.Phe948Cys)
c.17T>G (p.Phe6Cys)
c.860T>G (p.Phe287Cys)
c.919T>G
c.2051T>G (p.Phe684Cys)
c.3179T>G (p.Phe1060Cys)
c.94T>G
c.3359T>G (p.Phe1120Cys)
c.3026T>G (p.Phe1009Cys)
7g.117611711C>ACA368992330CFTRc.3270C>A (p.Phe1090Leu)
c.*2984C>A (n.*2984C>A)
c.3087C>A (p.Phe1029Leu)
c.*1570C>A (n.*1570C>A)
c.*3094C>A (n.*3094C>A)
c.2844C>A (p.Phe948Leu)
c.18C>A (p.Phe6Leu)
c.861C>A (p.Phe287Leu)
c.920C>A
c.2052C>A (p.Phe684Leu)
c.3180C>A (p.Phe1060Leu)
c.95C>A
c.3360C>A (p.Phe1120Leu)
c.3027C>A (p.Phe1009Leu)
7g.117611711C=CA1737387262CFTRc.3270C= (p.Phe1090=)
c.*2984C= (n.*2984C=)
c.3087C= (p.Phe1029=)
c.*1570C= (n.*1570C=)
c.*3094C= (n.*3094C=)
c.2844C= (p.Phe948=)
c.18C= (p.Phe6=)
c.861C= (p.Phe287=)
c.920C=
c.2052C= (p.Phe684=)
c.3180C= (p.Phe1060=)
c.95C=
c.3360C= (p.Phe1120=)
c.3027C= (p.Phe1009=)
7g.117611711C>GCA368992331CFTRc.3270C>G (p.Phe1090Leu)
c.*2984C>G (n.*2984C>G)
c.3087C>G (p.Phe1029Leu)
c.*1570C>G (n.*1570C>G)
c.*3094C>G (n.*3094C>G)
c.2844C>G (p.Phe948Leu)
c.18C>G (p.Phe6Leu)
c.861C>G (p.Phe287Leu)
c.920C>G
c.2052C>G (p.Phe684Leu)
c.3180C>G (p.Phe1060Leu)
c.95C>G
c.3360C>G (p.Phe1120Leu)
c.3027C>G (p.Phe1009Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611711C>TCA457230053CFTRc.3270C>T (p.Phe1090=)
c.*2984C>T (n.*2984C>T)
c.3087C>T (p.Phe1029=)
c.*1570C>T (n.*1570C>T)
c.*3094C>T (n.*3094C>T)
c.2844C>T (p.Phe948=)
c.18C>T (p.Phe6=)
c.861C>T (p.Phe287=)
c.920C>T
c.2052C>T (p.Phe684=)
c.3180C>T (p.Phe1060=)
c.95C>T
c.3360C>T (p.Phe1120=)
c.3027C>T (p.Phe1009=)
 gnomAD v4
7g.117611712T>ACA368992334CFTRc.3271T>A (p.Leu1091Met)
c.*2985T>A (n.*2985T>A)
c.3088T>A (p.Leu1030Met)
c.*1571T>A (n.*1571T>A)
c.*3095T>A (n.*3095T>A)
c.2845T>A (p.Leu949Met)
c.19T>A (p.Leu7Met)
c.862T>A (p.Leu288Met)
c.921T>A
c.2053T>A (p.Leu685Met)
c.3181T>A (p.Leu1061Met)
c.96T>A
c.3361T>A (p.Leu1121Met)
c.3028T>A (p.Leu1010Met)
7g.117611712T>CCA457230054CFTRc.3271T>C (p.Leu1091=)
c.*2985T>C (n.*2985T>C)
c.3088T>C (p.Leu1030=)
c.*1571T>C (n.*1571T>C)
c.*3095T>C (n.*3095T>C)
c.2845T>C (p.Leu949=)
c.19T>C (p.Leu7=)
c.862T>C (p.Leu288=)
c.921T>C
c.2053T>C (p.Leu685=)
c.3181T>C (p.Leu1061=)
c.96T>C
c.3361T>C (p.Leu1121=)
c.3028T>C (p.Leu1010=)
7g.117611712T>GCA368992335CFTRc.3271T>G (p.Leu1091Val)
c.*2985T>G (n.*2985T>G)
c.3088T>G (p.Leu1030Val)
c.*1571T>G (n.*1571T>G)
c.*3095T>G (n.*3095T>G)
c.2845T>G (p.Leu949Val)
c.19T>G (p.Leu7Val)
c.862T>G (p.Leu288Val)
c.921T>G
c.2053T>G (p.Leu685Val)
c.3181T>G (p.Leu1061Val)
c.96T>G
c.3361T>G (p.Leu1121Val)
c.3028T>G (p.Leu1010Val)
7g.117611713T>ACA368992337CFTRc.3272T>A (p.Leu1091Ter)
c.*2986T>A (n.*2986T>A)
c.3089T>A (p.Leu1030Ter)
c.*1572T>A (n.*1572T>A)
c.*3096T>A (n.*3096T>A)
c.2846T>A (p.Leu949Ter)
c.20T>A (p.Leu7Ter)
c.863T>A (p.Leu288Ter)
c.922T>A
c.2054T>A (p.Leu685Ter)
c.3182T>A (p.Leu1061Ter)
c.97T>A
c.3362T>A (p.Leu1121Ter)
c.3029T>A (p.Leu1010Ter)
7g.117611713T>CCA368992338CFTRc.3272T>C (p.Leu1091Ser)
c.*2986T>C (n.*2986T>C)
c.3089T>C (p.Leu1030Ser)
c.*1572T>C (n.*1572T>C)
c.*3096T>C (n.*3096T>C)
c.2846T>C (p.Leu949Ser)
c.20T>C (p.Leu7Ser)
c.863T>C (p.Leu288Ser)
c.922T>C
c.2054T>C (p.Leu685Ser)
c.3182T>C (p.Leu1061Ser)
c.97T>C
c.3362T>C (p.Leu1121Ser)
c.3029T>C (p.Leu1010Ser)
7g.117611713T>GCA368992341CFTRc.3272T>G (p.Leu1091Trp)
c.*2986T>G (n.*2986T>G)
c.3089T>G (p.Leu1030Trp)
c.*1572T>G (n.*1572T>G)
c.*3096T>G (n.*3096T>G)
c.2846T>G (p.Leu949Trp)
c.20T>G (p.Leu7Trp)
c.863T>G (p.Leu288Trp)
c.922T>G
c.2054T>G (p.Leu685Trp)
c.3182T>G (p.Leu1061Trp)
c.97T>G
c.3362T>G (p.Leu1121Trp)
c.3029T>G (p.Leu1010Trp)
7g.117611714G>ACA457230055CFTRc.3273G>A (p.Leu1091=)
c.*2987G>A (n.*2987G>A)
c.3090G>A (p.Leu1030=)
c.*1573G>A (n.*1573G>A)
c.*3097G>A (n.*3097G>A)
c.2847G>A (p.Leu949=)
c.21G>A (p.Leu7=)
c.864G>A (p.Leu288=)
c.923G>A
c.2055G>A (p.Leu685=)
c.3183G>A (p.Leu1061=)
c.98G>A
c.3363G>A (p.Leu1121=)
c.3030G>A (p.Leu1010=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611714G>CCA4451414CFTRc.3273G>C (p.Leu1091Phe)
c.*2987G>C (n.*2987G>C)
c.3090G>C (p.Leu1030Phe)
c.*1573G>C (n.*1573G>C)
c.*3097G>C (n.*3097G>C)
c.2847G>C (p.Leu949Phe)
c.21G>C (p.Leu7Phe)
c.864G>C (p.Leu288Phe)
c.923G>C
c.2055G>C (p.Leu685Phe)
c.3183G>C (p.Leu1061Phe)
c.98G>C
c.3363G>C (p.Leu1121Phe)
c.3030G>C (p.Leu1010Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611714G=CA1737387266CFTRc.3273G= (p.Leu1091=)
c.*2987G= (n.*2987G=)
c.3090G= (p.Leu1030=)
c.*1573G= (n.*1573G=)
c.*3097G= (n.*3097G=)
c.2847G= (p.Leu949=)
c.21G= (p.Leu7=)
c.864G= (p.Leu288=)
c.923G=
c.2055G= (p.Leu685=)
c.3183G= (p.Leu1061=)
c.98G=
c.3363G= (p.Leu1121=)
c.3030G= (p.Leu1010=)
7g.117611714G>TCA368992343CFTRc.3273G>T (p.Leu1091Phe)
c.*2987G>T (n.*2987G>T)
c.3090G>T (p.Leu1030Phe)
c.*1573G>T (n.*1573G>T)
c.*3097G>T (n.*3097G>T)
c.2847G>T (p.Leu949Phe)
c.21G>T (p.Leu7Phe)
c.864G>T (p.Leu288Phe)
c.923G>T
c.2055G>T (p.Leu685Phe)
c.3183G>T (p.Leu1061Phe)
c.98G>T
c.3363G>T (p.Leu1121Phe)
c.3030G>T (p.Leu1010Phe)
 ClinVar dbSNP gnomAD v4
7g.117611715T>ACA368992345CFTRc.3274T>A (p.Tyr1092Asn)
c.*2988T>A (n.*2988T>A)
c.3091T>A (p.Tyr1031Asn)
c.*1574T>A (n.*1574T>A)
c.*3098T>A (n.*3098T>A)
c.2848T>A (p.Tyr950Asn)
c.22T>A (p.Tyr8Asn)
c.865T>A (p.Tyr289Asn)
c.924T>A
c.2056T>A (p.Tyr686Asn)
c.3184T>A (p.Tyr1062Asn)
c.99T>A
c.3364T>A (p.Tyr1122Asn)
c.3031T>A (p.Tyr1011Asn)
7g.117611715T>CCA4451415CFTRc.3274T>C (p.Tyr1092His)
c.*2988T>C (n.*2988T>C)
c.3091T>C (p.Tyr1031His)
c.*1574T>C (n.*1574T>C)
c.*3098T>C (n.*3098T>C)
c.2848T>C (p.Tyr950His)
c.22T>C (p.Tyr8His)
c.865T>C (p.Tyr289His)
c.924T>C
c.2056T>C (p.Tyr686His)
c.3184T>C (p.Tyr1062His)
c.99T>C
c.3364T>C (p.Tyr1122His)
c.3031T>C (p.Tyr1011His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611715T>GCA368992347CFTRc.3274T>G (p.Tyr1092Asp)
c.*2988T>G (n.*2988T>G)
c.3091T>G (p.Tyr1031Asp)
c.*1574T>G (n.*1574T>G)
c.*3098T>G (n.*3098T>G)
c.2848T>G (p.Tyr950Asp)
c.22T>G (p.Tyr8Asp)
c.865T>G (p.Tyr289Asp)
c.924T>G
c.2056T>G (p.Tyr686Asp)
c.3184T>G (p.Tyr1062Asp)
c.99T>G
c.3364T>G (p.Tyr1122Asp)
c.3031T>G (p.Tyr1011Asp)
7g.117611715T=CA1737387275CFTRc.3274T= (p.Tyr1092=)
c.*2988T= (n.*2988T=)
c.3091T= (p.Tyr1031=)
c.*1574T= (n.*1574T=)
c.*3098T= (n.*3098T=)
c.2848T= (p.Tyr950=)
c.22T= (p.Tyr8=)
c.865T= (p.Tyr289=)
c.924T=
c.2056T= (p.Tyr686=)
c.3184T= (p.Tyr1062=)
c.99T=
c.3364T= (p.Tyr1122=)
c.3031T= (p.Tyr1011=)
7g.117611716A=CA1737387289CFTRc.3275A= (p.Tyr1092=)
c.*2989A= (n.*2989A=)
c.3092A= (p.Tyr1031=)
c.*1575A= (n.*1575A=)
c.*3099A= (n.*3099A=)
c.2849A= (p.Tyr950=)
c.23A= (p.Tyr8=)
c.866A= (p.Tyr289=)
c.925A=
c.2057A= (p.Tyr686=)
c.3185A= (p.Tyr1062=)
c.100A=
c.3365A= (p.Tyr1122=)
c.3032A= (p.Tyr1011=)
7g.117611716A>CCA368992349CFTRc.3275A>C (p.Tyr1092Ser)
c.*2989A>C (n.*2989A>C)
c.3092A>C (p.Tyr1031Ser)
c.*1575A>C (n.*1575A>C)
c.*3099A>C (n.*3099A>C)
c.2849A>C (p.Tyr950Ser)
c.23A>C (p.Tyr8Ser)
c.866A>C (p.Tyr289Ser)
c.925A>C
c.2057A>C (p.Tyr686Ser)
c.3185A>C (p.Tyr1062Ser)
c.100A>C
c.3365A>C (p.Tyr1122Ser)
c.3032A>C (p.Tyr1011Ser)
7g.117611716A>GCA4451416CFTRc.3275A>G (p.Tyr1092Cys)
c.*2989A>G (n.*2989A>G)
c.3092A>G (p.Tyr1031Cys)
c.*1575A>G (n.*1575A>G)
c.*3099A>G (n.*3099A>G)
c.2849A>G (p.Tyr950Cys)
c.23A>G (p.Tyr8Cys)
c.866A>G (p.Tyr289Cys)
c.925A>G
c.2057A>G (p.Tyr686Cys)
c.3185A>G (p.Tyr1062Cys)
c.100A>G
c.3365A>G (p.Tyr1122Cys)
c.3032A>G (p.Tyr1011Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611716A>TCA368992351CFTRc.3275A>T (p.Tyr1092Phe)
c.*2989A>T (n.*2989A>T)
c.3092A>T (p.Tyr1031Phe)
c.*1575A>T (n.*1575A>T)
c.*3099A>T (n.*3099A>T)
c.2849A>T (p.Tyr950Phe)
c.23A>T (p.Tyr8Phe)
c.866A>T (p.Tyr289Phe)
c.925A>T
c.2057A>T (p.Tyr686Phe)
c.3185A>T (p.Tyr1062Phe)
c.100A>T
c.3365A>T (p.Tyr1122Phe)
c.3032A>T (p.Tyr1011Phe)
7g.117611717C>ACA269813CFTRc.3276C>A (p.Tyr1092Ter)
c.*2990C>A (n.*2990C>A)
c.3093C>A (p.Tyr1031Ter)
c.*1576C>A (n.*1576C>A)
c.*3100C>A (n.*3100C>A)
c.2850C>A (p.Tyr950Ter)
c.24C>A (p.Tyr8Ter)
c.867C>A (p.Tyr289Ter)
c.926C>A
c.2058C>A (p.Tyr686Ter)
c.3186C>A (p.Tyr1062Ter)
c.101C>A
c.3366C>A (p.Tyr1122Ter)
c.3033C>A (p.Tyr1011Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611717C=CA1737387303CFTRc.3276C= (p.Tyr1092=)
c.*2990C= (n.*2990C=)
c.3093C= (p.Tyr1031=)
c.*1576C= (n.*1576C=)
c.*3100C= (n.*3100C=)
c.2850C= (p.Tyr950=)
c.24C= (p.Tyr8=)
c.867C= (p.Tyr289=)
c.926C=
c.2058C= (p.Tyr686=)
c.3186C= (p.Tyr1062=)
c.101C=
c.3366C= (p.Tyr1122=)
c.3033C= (p.Tyr1011=)
7g.117611717C>GCA269811CFTRc.3276C>G (p.Tyr1092Ter)
c.*2990C>G (n.*2990C>G)
c.3093C>G (p.Tyr1031Ter)
c.*1576C>G (n.*1576C>G)
c.*3100C>G (n.*3100C>G)
c.2850C>G (p.Tyr950Ter)
c.24C>G (p.Tyr8Ter)
c.867C>G (p.Tyr289Ter)
c.926C>G
c.2058C>G (p.Tyr686Ter)
c.3186C>G (p.Tyr1062Ter)
c.101C>G
c.3366C>G (p.Tyr1122Ter)
c.3033C>G (p.Tyr1011Ter)
 ClinVar dbSNP gnomAD v4
7g.117611717C>TCA457230056CFTRc.3276C>T (p.Tyr1092=)
c.*2990C>T (n.*2990C>T)
c.3093C>T (p.Tyr1031=)
c.*1576C>T (n.*1576C>T)
c.*3100C>T (n.*3100C>T)
c.2850C>T (p.Tyr950=)
c.24C>T (p.Tyr8=)
c.867C>T (p.Tyr289=)
c.926C>T
c.2058C>T (p.Tyr686=)
c.3186C>T (p.Tyr1062=)
c.101C>T
c.3366C>T (p.Tyr1122=)
c.3033C>T (p.Tyr1011=)
 dbSNP gnomAD v4
7g.117611718C>ACA368992353CFTRc.3277C>A (p.Leu1093Met)
c.*2991C>A (n.*2991C>A)
c.3094C>A (p.Leu1032Met)
c.*1577C>A (n.*1577C>A)
c.*3101C>A (n.*3101C>A)
c.2851C>A (p.Leu951Met)
c.25C>A (p.Leu9Met)
c.868C>A (p.Leu290Met)
c.927C>A
c.2059C>A (p.Leu687Met)
c.3187C>A (p.Leu1063Met)
c.102C>A
c.3367C>A (p.Leu1123Met)
c.3034C>A (p.Leu1012Met)
 gnomAD v4
7g.117611718C>GCA368992354CFTRc.3277C>G (p.Leu1093Val)
c.*2991C>G (n.*2991C>G)
c.3094C>G (p.Leu1032Val)
c.*1577C>G (n.*1577C>G)
c.*3101C>G (n.*3101C>G)
c.2851C>G (p.Leu951Val)
c.25C>G (p.Leu9Val)
c.868C>G (p.Leu290Val)
c.927C>G
c.2059C>G (p.Leu687Val)
c.3187C>G (p.Leu1063Val)
c.102C>G
c.3367C>G (p.Leu1123Val)
c.3034C>G (p.Leu1012Val)
 ClinVar dbSNP gnomAD v4
7g.117611718C>TCA457230057CFTRc.3277C>T (p.Leu1093=)
c.*2991C>T (n.*2991C>T)
c.3094C>T (p.Leu1032=)
c.*1577C>T (n.*1577C>T)
c.*3101C>T (n.*3101C>T)
c.2851C>T (p.Leu951=)
c.25C>T (p.Leu9=)
c.868C>T (p.Leu290=)
c.927C>T
c.2059C>T (p.Leu687=)
c.3187C>T (p.Leu1063=)
c.102C>T
c.3367C>T (p.Leu1123=)
c.3034C>T (p.Leu1012=)
7g.117611719T>ACA368992356CFTRc.3278T>A (p.Leu1093Gln)
c.*2992T>A (n.*2992T>A)
c.3095T>A (p.Leu1032Gln)
c.*1578T>A (n.*1578T>A)
c.*3102T>A (n.*3102T>A)
c.2852T>A (p.Leu951Gln)
c.26T>A (p.Leu9Gln)
c.869T>A (p.Leu290Gln)
c.928T>A
c.2060T>A (p.Leu687Gln)
c.3188T>A (p.Leu1063Gln)
c.103T>A
c.3368T>A (p.Leu1123Gln)
c.3035T>A (p.Leu1012Gln)
7g.117611719T>CCA327121CFTRc.3278T>C (p.Leu1093Pro)
c.*2992T>C (n.*2992T>C)
c.3095T>C (p.Leu1032Pro)
c.*1578T>C (n.*1578T>C)
c.*3102T>C (n.*3102T>C)
c.2852T>C (p.Leu951Pro)
c.26T>C (p.Leu9Pro)
c.869T>C (p.Leu290Pro)
c.928T>C
c.2060T>C (p.Leu687Pro)
c.3188T>C (p.Leu1063Pro)
c.103T>C
c.3368T>C (p.Leu1123Pro)
c.3035T>C (p.Leu1012Pro)
 ClinVar dbSNP
7g.117611719T>GCA368992357CFTRc.3278T>G (p.Leu1093Arg)
c.*2992T>G (n.*2992T>G)
c.3095T>G (p.Leu1032Arg)
c.*1578T>G (n.*1578T>G)
c.*3102T>G (n.*3102T>G)
c.2852T>G (p.Leu951Arg)
c.26T>G (p.Leu9Arg)
c.869T>G (p.Leu290Arg)
c.928T>G
c.2060T>G (p.Leu687Arg)
c.3188T>G (p.Leu1063Arg)
c.103T>G
c.3368T>G (p.Leu1123Arg)
c.3035T>G (p.Leu1012Arg)
7g.117611719T=CA1737387311CFTRc.3278T= (p.Leu1093=)
c.*2992T= (n.*2992T=)
c.3095T= (p.Leu1032=)
c.*1578T= (n.*1578T=)
c.*3102T= (n.*3102T=)
c.2852T= (p.Leu951=)
c.26T= (p.Leu9=)
c.869T= (p.Leu290=)
c.928T=
c.2060T= (p.Leu687=)
c.3188T= (p.Leu1063=)
c.103T=
c.3368T= (p.Leu1123=)
c.3035T= (p.Leu1012=)
7g.117611720G>ACA457230058CFTRc.3279G>A (p.Leu1093=)
c.*2993G>A (n.*2993G>A)
c.3096G>A (p.Leu1032=)
c.*1579G>A (n.*1579G>A)
c.*3103G>A (n.*3103G>A)
c.2853G>A (p.Leu951=)
c.27G>A (p.Leu9=)
c.870G>A (p.Leu290=)
c.929G>A
c.2061G>A (p.Leu687=)
c.3189G>A (p.Leu1063=)
c.104G>A
c.3369G>A (p.Leu1123=)
c.3036G>A (p.Leu1012=)
7g.117611720G>CCA457230060CFTRc.3279G>C (p.Leu1093=)
c.*2993G>C (n.*2993G>C)
c.3096G>C (p.Leu1032=)
c.*1579G>C (n.*1579G>C)
c.*3103G>C (n.*3103G>C)
c.2853G>C (p.Leu951=)
c.27G>C (p.Leu9=)
c.870G>C (p.Leu290=)
c.929G>C
c.2061G>C (p.Leu687=)
c.3189G>C (p.Leu1063=)
c.104G>C
c.3369G>C (p.Leu1123=)
c.3036G>C (p.Leu1012=)
7g.117611720G>TCA457230059CFTRc.3279G>T (p.Leu1093=)
c.*2993G>T (n.*2993G>T)
c.3096G>T (p.Leu1032=)
c.*1579G>T (n.*1579G>T)
c.*3103G>T (n.*3103G>T)
c.2853G>T (p.Leu951=)
c.27G>T (p.Leu9=)
c.870G>T (p.Leu290=)
c.929G>T
c.2061G>T (p.Leu687=)
c.3189G>T (p.Leu1063=)
c.104G>T
c.3369G>T (p.Leu1123=)
c.3036G>T (p.Leu1012=)
 ClinVar
7g.117611721T>ACA368992360CFTRc.3280T>A (p.Ser1094Thr)
c.*2994T>A (n.*2994T>A)
c.3097T>A (p.Ser1033Thr)
c.*1580T>A (n.*1580T>A)
c.*3104T>A (n.*3104T>A)
c.2854T>A (p.Ser952Thr)
c.28T>A (p.Ser10Thr)
c.871T>A (p.Ser291Thr)
c.930T>A
c.2062T>A (p.Ser688Thr)
c.3190T>A (p.Ser1064Thr)
c.105T>A
c.3370T>A (p.Ser1124Thr)
c.3037T>A (p.Ser1013Thr)
7g.117611721T>CCA368992363CFTRc.3280T>C (p.Ser1094Pro)
c.*2994T>C (n.*2994T>C)
c.3097T>C (p.Ser1033Pro)
c.*1580T>C (n.*1580T>C)
c.*3104T>C (n.*3104T>C)
c.2854T>C (p.Ser952Pro)
c.28T>C (p.Ser10Pro)
c.871T>C (p.Ser291Pro)
c.930T>C
c.2062T>C (p.Ser688Pro)
c.3190T>C (p.Ser1064Pro)
c.105T>C
c.3370T>C (p.Ser1124Pro)
c.3037T>C (p.Ser1013Pro)
 ClinVar
7g.117611721T>GCA368992361CFTRc.3280T>G (p.Ser1094Ala)
c.*2994T>G (n.*2994T>G)
c.3097T>G (p.Ser1033Ala)
c.*1580T>G (n.*1580T>G)
c.*3104T>G (n.*3104T>G)
c.2854T>G (p.Ser952Ala)
c.28T>G (p.Ser10Ala)
c.871T>G (p.Ser291Ala)
c.930T>G
c.2062T>G (p.Ser688Ala)
c.3190T>G (p.Ser1064Ala)
c.105T>G
c.3370T>G (p.Ser1124Ala)
c.3037T>G (p.Ser1013Ala)
7g.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCCCA1737387315CFTRc.3280_3367+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*2994_*3081+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3097_3184+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*1580_*1667+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*3104_*3191+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2854_2941+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.28_115+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.871_958+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.930_1017+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2062_2149+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3190_3277+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.105_192+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3370_3457+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3037_3124+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC

Number of alleles fetched