| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117624642_117629920del | CA915945441 | CFTR | c.3469-2880_3517+2350del c.*3183-2880_*3431+2150del c.3286-2880_3534+2150del c.3469-2880_3717+2150del c.3469-1362_*370+2150del c.3469-1362_*378+2150del c.*1844-2880_*2092+2150del c.3463-2880_3711+2150del c.*3293-2880_*3541+2150del c.3043-2880_3291+2150del c.217-2880_465+2150del c.1060-1362_1504+2150del c.51-2880_299+2150del c.1119-2880_1167+2350del c.3379-2880_3627+2150del c.3559-2880_3807+2150del c.3226-2880_3474+2150del | ClinVar |
| 7 | g.117627333_117631592del | CA915945443 | CFTR | c.3469-189_3517+4022del c.*3183-189_*3431+3822del c.3286-189_3534+3822del c.3469-189_3717+3822del c.*122-189_*370+3822del c.*130-189_*378+3822del c.*1844-189_*2092+3822del c.3463-189_3711+3822del c.*3293-189_*3541+3822del c.3043-189_3291+3822del c.217-189_465+3822del c.1256-189_1504+3822del c.51-189_299+3822del c.1119-189_1167+4022del c.3379-189_3627+3822del c.3559-189_3807+3822del c.3226-189_3474+3822del | |
| 7 | g.117627470_117632802dup | CA2580614241 | CFTR | c.3469-52_3517+5232dup c.*3183-52_*3431+5032dup c.3286-52_3534+5032dup c.3469-52_3717+5032dup c.*122-52_*370+5032dup c.*130-52_*378+5032dup c.*1844-52_*2092+5032dup c.3463-52_3711+5032dup c.*3293-52_*3541+5032dup c.3043-52_3291+5032dup c.217-52_465+5032dup c.1256-52_1504+5032dup c.51-52_299+5032dup c.1119-52_1167+5232dup c.3379-52_3627+5032dup c.3559-52_3807+5032dup c.3226-52_3474+5032dup | |
| 7 | g.117627522_117627770del | CA327202 | CFTR | c.3469_3517+200del c.*3183_*3431del c.3286_3534del c.3469_3717del c.*122_*370del c.*130_*378del c.*1844_*2092del c.3463_3711del c.*3293_*3541del c.3043_3291del c.217_465del c.1256_1504del c.51_299del c.1119_1167+200del c.2251_2499del c.3379_3627del c.294_542del c.3559_3807del c.3226_3474del | |
| 7 | g.117627657_117627658delinsGA | CA1737398677 | CFTR | c.3517+87_3517+88delinsGA (n.3517+87_3517+88delinsGA) c.*3318_*3319delinsGA (n.*3318_*3319delinsGA) c.3421_3422delinsGA (p.Asp1141=) c.3604_3605delinsGA (p.Asp1202=) c.*257_*258delinsGA (n.*257_*258delinsGA) c.*265_*266delinsGA (n.*265_*266delinsGA) c.*1979_*1980delinsGA (n.*1979_*1980delinsGA) c.3598_3599delinsGA (p.Asp1200=) c.*3428_*3429delinsGA (n.*3428_*3429delinsGA) c.3178_3179delinsGA (p.Asp1060=) c.352_353delinsGA (p.Asp118=) c.1391_1392delinsGA (n.1391_1392delinsGA) c.186_187delinsGA c.1167+87_1167+88delinsGA c.2386_2387delinsGA (p.Asp796=) c.3514_3515delinsGA (p.Asp1172=) c.429_430delinsGA c.3694_3695delinsGA (p.Asp1232=) c.3361_3362delinsGA (p.Asp1121=) | |
| 7 | g.117627658del | CA327239 | CFTR | c.3517+88del (n.3517+88del) c.*3319del (n.*3319del) c.3422del (p.Asp1141AlafsTer9) c.3605del (p.Asp1202AlafsTer9) c.*258del (n.*258del) c.*266del (n.*266del) c.*1980del (n.*1980del) c.3599del (p.Asp1200AlafsTer9) c.*3429del (n.*3429del) c.3179del (p.Asp1060AlafsTer9) c.353del (p.Asp118AlafsTer9) c.1392del (n.1392del) c.187del c.1167+88del c.2387del (p.Asp796AlafsTer9) c.3515del (p.Asp1172AlafsTer9) c.430del c.3695del (p.Asp1232AlafsTer9) c.3362del (p.Asp1121AlafsTer9) | ClinVar dbSNP |
| 7 | g.117627658A= | CA1737398678 | CFTR | c.3517+88A= (n.3517+88A=) c.*3319A= (n.*3319A=) c.3422A= (p.Asp1141=) c.3605A= (p.Asp1202=) c.*258A= (n.*258A=) c.*266A= (n.*266A=) c.*1980A= (n.*1980A=) c.3599A= (p.Asp1200=) c.*3429A= (n.*3429A=) c.3179A= (p.Asp1060=) c.353A= (p.Asp118=) c.1392A= (n.1392A=) c.187A= c.1167+88A= c.2387A= (p.Asp796=) c.3515A= (p.Asp1172=) c.430A= c.3695A= (p.Asp1232=) c.3362A= (p.Asp1121=) | |
| 7 | g.117627658A>C | CA368997145 | CFTR | c.3517+88A>C (n.3517+88A>C) c.*3319A>C (n.*3319A>C) c.3422A>C (p.Asp1141Ala) c.3605A>C (p.Asp1202Ala) c.*258A>C (n.*258A>C) c.*266A>C (n.*266A>C) c.*1980A>C (n.*1980A>C) c.3599A>C (p.Asp1200Ala) c.*3429A>C (n.*3429A>C) c.3179A>C (p.Asp1060Ala) c.353A>C (p.Asp118Ala) c.1392A>C (n.1392A>C) c.187A>C c.1167+88A>C c.2387A>C (p.Asp796Ala) c.3515A>C (p.Asp1172Ala) c.430A>C c.3695A>C (p.Asp1232Ala) c.3362A>C (p.Asp1121Ala) | |
| 7 | g.117627658A>G | CA368997147 | CFTR | c.3517+88A>G (n.3517+88A>G) c.*3319A>G (n.*3319A>G) c.3422A>G (p.Asp1141Gly) c.3605A>G (p.Asp1202Gly) c.*258A>G (n.*258A>G) c.*266A>G (n.*266A>G) c.*1980A>G (n.*1980A>G) c.3599A>G (p.Asp1200Gly) c.*3429A>G (n.*3429A>G) c.3179A>G (p.Asp1060Gly) c.353A>G (p.Asp118Gly) c.1392A>G (n.1392A>G) c.187A>G c.1167+88A>G c.2387A>G (p.Asp796Gly) c.3515A>G (p.Asp1172Gly) c.430A>G c.3695A>G (p.Asp1232Gly) c.3362A>G (p.Asp1121Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117627658A>T | CA368997149 | CFTR | c.3517+88A>T (n.3517+88A>T) c.*3319A>T (n.*3319A>T) c.3422A>T (p.Asp1141Val) c.3605A>T (p.Asp1202Val) c.*258A>T (n.*258A>T) c.*266A>T (n.*266A>T) c.*1980A>T (n.*1980A>T) c.3599A>T (p.Asp1200Val) c.*3429A>T (n.*3429A>T) c.3179A>T (p.Asp1060Val) c.353A>T (p.Asp118Val) c.1392A>T (n.1392A>T) c.187A>T c.1167+88A>T c.2387A>T (p.Asp796Val) c.3515A>T (p.Asp1172Val) c.430A>T c.3695A>T (p.Asp1232Val) c.3362A>T (p.Asp1121Val) | |
| 7 | g.117627659C>A | CA368997152 | CFTR | c.3517+89C>A (n.3517+89C>A) c.*3320C>A (n.*3320C>A) c.3423C>A (p.Asp1141Glu) c.3606C>A (p.Asp1202Glu) c.*259C>A (n.*259C>A) c.*267C>A (n.*267C>A) c.*1981C>A (n.*1981C>A) c.3600C>A (p.Asp1200Glu) c.*3430C>A (n.*3430C>A) c.3180C>A (p.Asp1060Glu) c.354C>A (p.Asp118Glu) c.1393C>A (n.1393C>A) c.188C>A c.1167+89C>A c.2388C>A (p.Asp796Glu) c.3516C>A (p.Asp1172Glu) c.431C>A c.3696C>A (p.Asp1232Glu) c.3363C>A (p.Asp1121Glu) | |
| 7 | g.117627659C>G | CA368997154 | CFTR | c.3517+89C>G (n.3517+89C>G) c.*3320C>G (n.*3320C>G) c.3423C>G (p.Asp1141Glu) c.3606C>G (p.Asp1202Glu) c.*259C>G (n.*259C>G) c.*267C>G (n.*267C>G) c.*1981C>G (n.*1981C>G) c.3600C>G (p.Asp1200Glu) c.*3430C>G (n.*3430C>G) c.3180C>G (p.Asp1060Glu) c.354C>G (p.Asp118Glu) c.1393C>G (n.1393C>G) c.188C>G c.1167+89C>G c.2388C>G (p.Asp796Glu) c.3516C>G (p.Asp1172Glu) c.431C>G c.3696C>G (p.Asp1232Glu) c.3363C>G (p.Asp1121Glu) | |
| 7 | g.117627659C>T | CA457231419 | CFTR | c.3517+89C>T (n.3517+89C>T) c.*3320C>T (n.*3320C>T) c.3423C>T (p.Asp1141=) c.3606C>T (p.Asp1202=) c.*259C>T (n.*259C>T) c.*267C>T (n.*267C>T) c.*1981C>T (n.*1981C>T) c.3600C>T (p.Asp1200=) c.*3430C>T (n.*3430C>T) c.3180C>T (p.Asp1060=) c.354C>T (p.Asp118=) c.1393C>T (n.1393C>T) c.188C>T c.1167+89C>T c.2388C>T (p.Asp796=) c.3516C>T (p.Asp1172=) c.431C>T c.3696C>T (p.Asp1232=) c.3363C>T (p.Asp1121=) | ClinVar dbSNP |
| 7 | g.117627660A= | CA1737398679 | CFTR | c.3517+90A= (n.3517+90A=) c.*3321A= (n.*3321A=) c.3424A= (p.Ile1142=) c.3607A= (p.Ile1203=) c.*260A= (n.*260A=) c.*268A= (n.*268A=) c.*1982A= (n.*1982A=) c.3601A= (p.Ile1201=) c.*3431A= (n.*3431A=) c.3181A= (p.Ile1061=) c.355A= (p.Ile119=) c.1394A= (n.1394A=) c.189A= c.1167+90A= c.2389A= (p.Ile797=) c.3517A= (p.Ile1173=) c.432A= c.3697A= (p.Ile1233=) c.3364A= (p.Ile1122=) | |
| 7 | g.117627660A>C | CA368997156 | CFTR | c.3517+90A>C (n.3517+90A>C) c.*3321A>C (n.*3321A>C) c.3424A>C (p.Ile1142Leu) c.3607A>C (p.Ile1203Leu) c.*260A>C (n.*260A>C) c.*268A>C (n.*268A>C) c.*1982A>C (n.*1982A>C) c.3601A>C (p.Ile1201Leu) c.*3431A>C (n.*3431A>C) c.3181A>C (p.Ile1061Leu) c.355A>C (p.Ile119Leu) c.1394A>C (n.1394A>C) c.189A>C c.1167+90A>C c.2389A>C (p.Ile797Leu) c.3517A>C (p.Ile1173Leu) c.432A>C c.3697A>C (p.Ile1233Leu) c.3364A>C (p.Ile1122Leu) | |
| 7 | g.117627660A>G | CA233702 | CFTR | c.3517+90A>G (n.3517+90A>G) c.*3321A>G (n.*3321A>G) c.3424A>G (p.Ile1142Val) c.3607A>G (p.Ile1203Val) c.*260A>G (n.*260A>G) c.*268A>G (n.*268A>G) c.*1982A>G (n.*1982A>G) c.3601A>G (p.Ile1201Val) c.*3431A>G (n.*3431A>G) c.3181A>G (p.Ile1061Val) c.355A>G (p.Ile119Val) c.1394A>G (n.1394A>G) c.189A>G c.1167+90A>G c.2389A>G (p.Ile797Val) c.3517A>G (p.Ile1173Val) c.432A>G c.3697A>G (p.Ile1233Val) c.3364A>G (p.Ile1122Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627660A>T | CA368997159 | CFTR | c.3517+90A>T (n.3517+90A>T) c.*3321A>T (n.*3321A>T) c.3424A>T (p.Ile1142Phe) c.3607A>T (p.Ile1203Phe) c.*260A>T (n.*260A>T) c.*268A>T (n.*268A>T) c.*1982A>T (n.*1982A>T) c.3601A>T (p.Ile1201Phe) c.*3431A>T (n.*3431A>T) c.3181A>T (p.Ile1061Phe) c.355A>T (p.Ile119Phe) c.1394A>T (n.1394A>T) c.189A>T c.1167+90A>T c.2389A>T (p.Ile797Phe) c.3517A>T (p.Ile1173Phe) c.432A>T c.3697A>T (p.Ile1233Phe) c.3364A>T (p.Ile1122Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627661T>A | CA368997161 | CFTR | c.3517+91T>A (n.3517+91T>A) c.*3322T>A (n.*3322T>A) c.3425T>A (p.Ile1142Asn) c.3608T>A (p.Ile1203Asn) c.*261T>A (n.*261T>A) c.*269T>A (n.*269T>A) c.*1983T>A (n.*1983T>A) c.3602T>A (p.Ile1201Asn) c.*3432T>A (n.*3432T>A) c.3182T>A (p.Ile1061Asn) c.356T>A (p.Ile119Asn) c.1395T>A (n.1395T>A) c.190T>A c.1167+91T>A c.2390T>A (p.Ile797Asn) c.3518T>A (p.Ile1173Asn) c.433T>A c.3698T>A (p.Ile1233Asn) c.3365T>A (p.Ile1122Asn) | |
| 7 | g.117627661T>C | CA368997162 | CFTR | c.3517+91T>C (n.3517+91T>C) c.*3322T>C (n.*3322T>C) c.3425T>C (p.Ile1142Thr) c.3608T>C (p.Ile1203Thr) c.*261T>C (n.*261T>C) c.*269T>C (n.*269T>C) c.*1983T>C (n.*1983T>C) c.3602T>C (p.Ile1201Thr) c.*3432T>C (n.*3432T>C) c.3182T>C (p.Ile1061Thr) c.356T>C (p.Ile119Thr) c.1395T>C (n.1395T>C) c.190T>C c.1167+91T>C c.2390T>C (p.Ile797Thr) c.3518T>C (p.Ile1173Thr) c.433T>C c.3698T>C (p.Ile1233Thr) c.3365T>C (p.Ile1122Thr) | |
| 7 | g.117627661T>G | CA368997164 | CFTR | c.3517+91T>G (n.3517+91T>G) c.*3322T>G (n.*3322T>G) c.3425T>G (p.Ile1142Ser) c.3608T>G (p.Ile1203Ser) c.*261T>G (n.*261T>G) c.*269T>G (n.*269T>G) c.*1983T>G (n.*1983T>G) c.3602T>G (p.Ile1201Ser) c.*3432T>G (n.*3432T>G) c.3182T>G (p.Ile1061Ser) c.356T>G (p.Ile119Ser) c.1395T>G (n.1395T>G) c.190T>G c.1167+91T>G c.2390T>G (p.Ile797Ser) c.3518T>G (p.Ile1173Ser) c.433T>G c.3698T>G (p.Ile1233Ser) c.3365T>G (p.Ile1122Ser) | |
| 7 | g.117627662C>A | CA457231420 | CFTR | c.3517+92C>A (n.3517+92C>A) c.*3323C>A (n.*3323C>A) c.3426C>A (p.Ile1142=) c.3609C>A (p.Ile1203=) c.*262C>A (n.*262C>A) c.*270C>A (n.*270C>A) c.*1984C>A (n.*1984C>A) c.3603C>A (p.Ile1201=) c.*3433C>A (n.*3433C>A) c.3183C>A (p.Ile1061=) c.357C>A (p.Ile119=) c.1396C>A (n.1396C>A) c.191C>A c.1167+92C>A c.2391C>A (p.Ile797=) c.3519C>A (p.Ile1173=) c.434C>A c.3699C>A (p.Ile1233=) c.3366C>A (p.Ile1122=) | |
| 7 | g.117627662C>G | CA368997165 | CFTR | c.3517+92C>G (n.3517+92C>G) c.*3323C>G (n.*3323C>G) c.3426C>G (p.Ile1142Met) c.3609C>G (p.Ile1203Met) c.*262C>G (n.*262C>G) c.*270C>G (n.*270C>G) c.*1984C>G (n.*1984C>G) c.3603C>G (p.Ile1201Met) c.*3433C>G (n.*3433C>G) c.3183C>G (p.Ile1061Met) c.357C>G (p.Ile119Met) c.1396C>G (n.1396C>G) c.191C>G c.1167+92C>G c.2391C>G (p.Ile797Met) c.3519C>G (p.Ile1173Met) c.434C>G c.3699C>G (p.Ile1233Met) c.3366C>G (p.Ile1122Met) | |
| 7 | g.117627662C>T | CA457231421 | CFTR | c.3517+92C>T (n.3517+92C>T) c.*3323C>T (n.*3323C>T) c.3426C>T (p.Ile1142=) c.3609C>T (p.Ile1203=) c.*262C>T (n.*262C>T) c.*270C>T (n.*270C>T) c.*1984C>T (n.*1984C>T) c.3603C>T (p.Ile1201=) c.*3433C>T (n.*3433C>T) c.3183C>T (p.Ile1061=) c.357C>T (p.Ile119=) c.1396C>T (n.1396C>T) c.191C>T c.1167+92C>T c.2391C>T (p.Ile797=) c.3519C>T (p.Ile1173=) c.434C>T c.3699C>T (p.Ile1233=) c.3366C>T (p.Ile1122=) | ClinVar COSMIC |
| 7 | g.117627663T>A | CA368997171 | CFTR | c.3517+93T>A (n.3517+93T>A) c.*3324T>A (n.*3324T>A) c.3427T>A (p.Trp1143Arg) c.3610T>A (p.Trp1204Arg) c.*263T>A (n.*263T>A) c.*271T>A (n.*271T>A) c.*1985T>A (n.*1985T>A) c.3604T>A (p.Trp1202Arg) c.*3434T>A (n.*3434T>A) c.3184T>A (p.Trp1062Arg) c.358T>A (p.Trp120Arg) c.1397T>A (n.1397T>A) c.192T>A c.1167+93T>A c.2392T>A (p.Trp798Arg) c.3520T>A (p.Trp1174Arg) c.435T>A c.3700T>A (p.Trp1234Arg) c.3367T>A (p.Trp1123Arg) | |
| 7 | g.117627663T>C | CA368997168 | CFTR | c.3517+93T>C (n.3517+93T>C) c.*3324T>C (n.*3324T>C) c.3427T>C (p.Trp1143Arg) c.3610T>C (p.Trp1204Arg) c.*263T>C (n.*263T>C) c.*271T>C (n.*271T>C) c.*1985T>C (n.*1985T>C) c.3604T>C (p.Trp1202Arg) c.*3434T>C (n.*3434T>C) c.3184T>C (p.Trp1062Arg) c.358T>C (p.Trp120Arg) c.1397T>C (n.1397T>C) c.192T>C c.1167+93T>C c.2392T>C (p.Trp798Arg) c.3520T>C (p.Trp1174Arg) c.435T>C c.3700T>C (p.Trp1234Arg) c.3367T>C (p.Trp1123Arg) | |
| 7 | g.117627663T>G | CA368997169 | CFTR | c.3517+93T>G (n.3517+93T>G) c.*3324T>G (n.*3324T>G) c.3427T>G (p.Trp1143Gly) c.3610T>G (p.Trp1204Gly) c.*263T>G (n.*263T>G) c.*271T>G (n.*271T>G) c.*1985T>G (n.*1985T>G) c.3604T>G (p.Trp1202Gly) c.*3434T>G (n.*3434T>G) c.3184T>G (p.Trp1062Gly) c.358T>G (p.Trp120Gly) c.1397T>G (n.1397T>G) c.192T>G c.1167+93T>G c.2392T>G (p.Trp798Gly) c.3520T>G (p.Trp1174Gly) c.435T>G c.3700T>G (p.Trp1234Gly) c.3367T>G (p.Trp1123Gly) | |
| 7 | g.117627664G>A | CA325599 | CFTR | c.3517+94G>A (n.3517+94G>A) c.*3325G>A (n.*3325G>A) c.3428G>A (p.Trp1143Ter) c.3611G>A (p.Trp1204Ter) c.*264G>A (n.*264G>A) c.*272G>A (n.*272G>A) c.*1986G>A (n.*1986G>A) c.3605G>A (p.Trp1202Ter) c.*3435G>A (n.*3435G>A) c.3185G>A (p.Trp1062Ter) c.359G>A (p.Trp120Ter) c.1398G>A (n.1398G>A) c.193G>A c.1167+94G>A c.2393G>A (p.Trp798Ter) c.3521G>A (p.Trp1174Ter) c.436G>A c.3701G>A (p.Trp1234Ter) c.3368G>A (p.Trp1123Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627664G>C | CA368997174 | CFTR | c.3517+94G>C (n.3517+94G>C) c.*3325G>C (n.*3325G>C) c.3428G>C (p.Trp1143Ser) c.3611G>C (p.Trp1204Ser) c.*264G>C (n.*264G>C) c.*272G>C (n.*272G>C) c.*1986G>C (n.*1986G>C) c.3605G>C (p.Trp1202Ser) c.*3435G>C (n.*3435G>C) c.3185G>C (p.Trp1062Ser) c.359G>C (p.Trp120Ser) c.1398G>C (n.1398G>C) c.193G>C c.1167+94G>C c.2393G>C (p.Trp798Ser) c.3521G>C (p.Trp1174Ser) c.436G>C c.3701G>C (p.Trp1234Ser) c.3368G>C (p.Trp1123Ser) | |
| 7 | g.117627664G= | CA1737398680 | CFTR | c.3517+94G= (n.3517+94G=) c.*3325G= (n.*3325G=) c.3428G= (p.Trp1143=) c.3611G= (p.Trp1204=) c.*264G= (n.*264G=) c.*272G= (n.*272G=) c.*1986G= (n.*1986G=) c.3605G= (p.Trp1202=) c.*3435G= (n.*3435G=) c.3185G= (p.Trp1062=) c.359G= (p.Trp120=) c.1398G= (n.1398G=) c.193G= c.1167+94G= c.2393G= (p.Trp798=) c.3521G= (p.Trp1174=) c.436G= c.3701G= (p.Trp1234=) c.3368G= (p.Trp1123=) | |
| 7 | g.117627664G>T | CA368997176 | CFTR | c.3517+94G>T (n.3517+94G>T) c.*3325G>T (n.*3325G>T) c.3428G>T (p.Trp1143Leu) c.3611G>T (p.Trp1204Leu) c.*264G>T (n.*264G>T) c.*272G>T (n.*272G>T) c.*1986G>T (n.*1986G>T) c.3605G>T (p.Trp1202Leu) c.*3435G>T (n.*3435G>T) c.3185G>T (p.Trp1062Leu) c.359G>T (p.Trp120Leu) c.1398G>T (n.1398G>T) c.193G>T c.1167+94G>T c.2393G>T (p.Trp798Leu) c.3521G>T (p.Trp1174Leu) c.436G>T c.3701G>T (p.Trp1234Leu) c.3368G>T (p.Trp1123Leu) | ClinVar |
| 7 | g.117627665G>A | CA221029 | CFTR | c.3517+95G>A (n.3517+95G>A) c.*3326G>A (n.*3326G>A) c.3429G>A (p.Trp1143Ter) c.3612G>A (p.Trp1204Ter) c.*265G>A (n.*265G>A) c.*273G>A (n.*273G>A) c.*1987G>A (n.*1987G>A) c.3606G>A (p.Trp1202Ter) c.*3436G>A (n.*3436G>A) c.3186G>A (p.Trp1062Ter) c.360G>A (p.Trp120Ter) c.1399G>A (n.1399G>A) c.194G>A c.1167+95G>A c.2394G>A (p.Trp798Ter) c.3522G>A (p.Trp1174Ter) c.437G>A c.3702G>A (p.Trp1234Ter) c.3369G>A (p.Trp1123Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627665G>C | CA368997179 | CFTR | c.3517+95G>C (n.3517+95G>C) c.*3326G>C (n.*3326G>C) c.3429G>C (p.Trp1143Cys) c.3612G>C (p.Trp1204Cys) c.*265G>C (n.*265G>C) c.*273G>C (n.*273G>C) c.*1987G>C (n.*1987G>C) c.3606G>C (p.Trp1202Cys) c.*3436G>C (n.*3436G>C) c.3186G>C (p.Trp1062Cys) c.360G>C (p.Trp120Cys) c.1399G>C (n.1399G>C) c.194G>C c.1167+95G>C c.2394G>C (p.Trp798Cys) c.3522G>C (p.Trp1174Cys) c.437G>C c.3702G>C (p.Trp1234Cys) c.3369G>C (p.Trp1123Cys) | |
| 7 | g.117627665G= | CA1737398681 | CFTR | c.3517+95G= (n.3517+95G=) c.*3326G= (n.*3326G=) c.3429G= (p.Trp1143=) c.3612G= (p.Trp1204=) c.*265G= (n.*265G=) c.*273G= (n.*273G=) c.*1987G= (n.*1987G=) c.3606G= (p.Trp1202=) c.*3436G= (n.*3436G=) c.3186G= (p.Trp1062=) c.360G= (p.Trp120=) c.1399G= (n.1399G=) c.194G= c.1167+95G= c.2394G= (p.Trp798=) c.3522G= (p.Trp1174=) c.437G= c.3702G= (p.Trp1234=) c.3369G= (p.Trp1123=) | |
| 7 | g.117627665G>T | CA368997180 | CFTR | c.3517+95G>T (n.3517+95G>T) c.*3326G>T (n.*3326G>T) c.3429G>T (p.Trp1143Cys) c.3612G>T (p.Trp1204Cys) c.*265G>T (n.*265G>T) c.*273G>T (n.*273G>T) c.*1987G>T (n.*1987G>T) c.3606G>T (p.Trp1202Cys) c.*3436G>T (n.*3436G>T) c.3186G>T (p.Trp1062Cys) c.360G>T (p.Trp120Cys) c.1399G>T (n.1399G>T) c.194G>T c.1167+95G>T c.2394G>T (p.Trp798Cys) c.3522G>T (p.Trp1174Cys) c.437G>T c.3702G>T (p.Trp1234Cys) c.3369G>T (p.Trp1123Cys) | dbSNP |
| 7 | g.117627666C>A | CA368997183 | CFTR | c.3517+96C>A (n.3517+96C>A) c.*3327C>A (n.*3327C>A) c.3430C>A (p.Pro1144Thr) c.3613C>A (p.Pro1205Thr) c.*266C>A (n.*266C>A) c.*274C>A (n.*274C>A) c.*1988C>A (n.*1988C>A) c.3607C>A (p.Pro1203Thr) c.*3437C>A (n.*3437C>A) c.3187C>A (p.Pro1063Thr) c.361C>A (p.Pro121Thr) c.1400C>A (n.1400C>A) c.195C>A c.1167+96C>A c.2395C>A (p.Pro799Thr) c.3523C>A (p.Pro1175Thr) c.438C>A c.3703C>A (p.Pro1235Thr) c.3370C>A (p.Pro1124Thr) | |
| 7 | g.117627666C>G | CA368997185 | CFTR | c.3517+96C>G (n.3517+96C>G) c.*3327C>G (n.*3327C>G) c.3430C>G (p.Pro1144Ala) c.3613C>G (p.Pro1205Ala) c.*266C>G (n.*266C>G) c.*274C>G (n.*274C>G) c.*1988C>G (n.*1988C>G) c.3607C>G (p.Pro1203Ala) c.*3437C>G (n.*3437C>G) c.3187C>G (p.Pro1063Ala) c.361C>G (p.Pro121Ala) c.1400C>G (n.1400C>G) c.195C>G c.1167+96C>G c.2395C>G (p.Pro799Ala) c.3523C>G (p.Pro1175Ala) c.438C>G c.3703C>G (p.Pro1235Ala) c.3370C>G (p.Pro1124Ala) | |
| 7 | g.117627666C>T | CA368997187 | CFTR | c.3517+96C>T (n.3517+96C>T) c.*3327C>T (n.*3327C>T) c.3430C>T (p.Pro1144Ser) c.3613C>T (p.Pro1205Ser) c.*266C>T (n.*266C>T) c.*274C>T (n.*274C>T) c.*1988C>T (n.*1988C>T) c.3607C>T (p.Pro1203Ser) c.*3437C>T (n.*3437C>T) c.3187C>T (p.Pro1063Ser) c.361C>T (p.Pro121Ser) c.1400C>T (n.1400C>T) c.195C>T c.1167+96C>T c.2395C>T (p.Pro799Ser) c.3523C>T (p.Pro1175Ser) c.438C>T c.3703C>T (p.Pro1235Ser) c.3370C>T (p.Pro1124Ser) | gnomAD v4 |
| 7 | g.117627667C>A | CA368997189 | CFTR | c.3517+97C>A (n.3517+97C>A) c.*3328C>A (n.*3328C>A) c.3431C>A (p.Pro1144His) c.3614C>A (p.Pro1205His) c.*267C>A (n.*267C>A) c.*275C>A (n.*275C>A) c.*1989C>A (n.*1989C>A) c.3608C>A (p.Pro1203His) c.*3438C>A (n.*3438C>A) c.3188C>A (p.Pro1063His) c.362C>A (p.Pro121His) c.1401C>A (n.1401C>A) c.196C>A c.1167+97C>A c.2396C>A (p.Pro799His) c.3524C>A (p.Pro1175His) c.439C>A c.3704C>A (p.Pro1235His) c.3371C>A (p.Pro1124His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627667C= | CA1737398682 | CFTR | c.3517+97C= (n.3517+97C=) c.*3328C= (n.*3328C=) c.3431C= (p.Pro1144=) c.3614C= (p.Pro1205=) c.*267C= (n.*267C=) c.*275C= (n.*275C=) c.*1989C= (n.*1989C=) c.3608C= (p.Pro1203=) c.*3438C= (n.*3438C=) c.3188C= (p.Pro1063=) c.362C= (p.Pro121=) c.1401C= (n.1401C=) c.196C= c.1167+97C= c.2396C= (p.Pro799=) c.3524C= (p.Pro1175=) c.439C= c.3704C= (p.Pro1235=) c.3371C= (p.Pro1124=) | |
| 7 | g.117627667C>G | CA368997191 | CFTR | c.3517+97C>G (n.3517+97C>G) c.*3328C>G (n.*3328C>G) c.3431C>G (p.Pro1144Arg) c.3614C>G (p.Pro1205Arg) c.*267C>G (n.*267C>G) c.*275C>G (n.*275C>G) c.*1989C>G (n.*1989C>G) c.3608C>G (p.Pro1203Arg) c.*3438C>G (n.*3438C>G) c.3188C>G (p.Pro1063Arg) c.362C>G (p.Pro121Arg) c.1401C>G (n.1401C>G) c.196C>G c.1167+97C>G c.2396C>G (p.Pro799Arg) c.3524C>G (p.Pro1175Arg) c.439C>G c.3704C>G (p.Pro1235Arg) c.3371C>G (p.Pro1124Arg) | ClinVar dbSNP |
| 7 | g.117627667C>T | CA368997194 | CFTR | c.3517+97C>T (n.3517+97C>T) c.*3328C>T (n.*3328C>T) c.3431C>T (p.Pro1144Leu) c.3614C>T (p.Pro1205Leu) c.*267C>T (n.*267C>T) c.*275C>T (n.*275C>T) c.*1989C>T (n.*1989C>T) c.3608C>T (p.Pro1203Leu) c.*3438C>T (n.*3438C>T) c.3188C>T (p.Pro1063Leu) c.362C>T (p.Pro121Leu) c.1401C>T (n.1401C>T) c.196C>T c.1167+97C>T c.2396C>T (p.Pro799Leu) c.3524C>T (p.Pro1175Leu) c.439C>T c.3704C>T (p.Pro1235Leu) c.3371C>T (p.Pro1124Leu) | |
| 7 | g.117627668C>A | CA457231425 | CFTR | c.3517+98C>A (n.3517+98C>A) c.*3329C>A (n.*3329C>A) c.3432C>A (p.Pro1144=) c.3615C>A (p.Pro1205=) c.*268C>A (n.*268C>A) c.*276C>A (n.*276C>A) c.*1990C>A (n.*1990C>A) c.3609C>A (p.Pro1203=) c.*3439C>A (n.*3439C>A) c.3189C>A (p.Pro1063=) c.363C>A (p.Pro121=) c.1402C>A (n.1402C>A) c.197C>A c.1167+98C>A c.2397C>A (p.Pro799=) c.3525C>A (p.Pro1175=) c.440C>A c.3705C>A (p.Pro1235=) c.3372C>A (p.Pro1124=) | |
| 7 | g.117627668C= | CA1737398683 | CFTR | c.3517+98C= (n.3517+98C=) c.*3329C= (n.*3329C=) c.3432C= (p.Pro1144=) c.3615C= (p.Pro1205=) c.*268C= (n.*268C=) c.*276C= (n.*276C=) c.*1990C= (n.*1990C=) c.3609C= (p.Pro1203=) c.*3439C= (n.*3439C=) c.3189C= (p.Pro1063=) c.363C= (p.Pro121=) c.1402C= (n.1402C=) c.197C= c.1167+98C= c.2397C= (p.Pro799=) c.3525C= (p.Pro1175=) c.440C= c.3705C= (p.Pro1235=) c.3372C= (p.Pro1124=) | |
| 7 | g.117627668C>G | CA457231424 | CFTR | c.3517+98C>G (n.3517+98C>G) c.*3329C>G (n.*3329C>G) c.3432C>G (p.Pro1144=) c.3615C>G (p.Pro1205=) c.*268C>G (n.*268C>G) c.*276C>G (n.*276C>G) c.*1990C>G (n.*1990C>G) c.3609C>G (p.Pro1203=) c.*3439C>G (n.*3439C>G) c.3189C>G (p.Pro1063=) c.363C>G (p.Pro121=) c.1402C>G (n.1402C>G) c.197C>G c.1167+98C>G c.2397C>G (p.Pro799=) c.3525C>G (p.Pro1175=) c.440C>G c.3705C>G (p.Pro1235=) c.3372C>G (p.Pro1124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627668C>T | CA457231423 | CFTR | c.3517+98C>T (n.3517+98C>T) c.*3329C>T (n.*3329C>T) c.3432C>T (p.Pro1144=) c.3615C>T (p.Pro1205=) c.*268C>T (n.*268C>T) c.*276C>T (n.*276C>T) c.*1990C>T (n.*1990C>T) c.3609C>T (p.Pro1203=) c.*3439C>T (n.*3439C>T) c.3189C>T (p.Pro1063=) c.363C>T (p.Pro121=) c.1402C>T (n.1402C>T) c.197C>T c.1167+98C>T c.2397C>T (p.Pro799=) c.3525C>T (p.Pro1175=) c.440C>T c.3705C>T (p.Pro1235=) c.3372C>T (p.Pro1124=) | ClinVar gnomAD v4 |
| 7 | g.117627669T>A | CA368997196 | CFTR | c.3517+99T>A (n.3517+99T>A) c.*3330T>A (n.*3330T>A) c.3433T>A (p.Ser1145Thr) c.3616T>A (p.Ser1206Thr) c.*269T>A (n.*269T>A) c.*277T>A (n.*277T>A) c.*1991T>A (n.*1991T>A) c.3610T>A (p.Ser1204Thr) c.*3440T>A (n.*3440T>A) c.3190T>A (p.Ser1064Thr) c.364T>A (p.Ser122Thr) c.1403T>A (n.1403T>A) c.198T>A c.1167+99T>A c.2398T>A (p.Ser800Thr) c.3526T>A (p.Ser1176Thr) c.441T>A c.3706T>A (p.Ser1236Thr) c.3373T>A (p.Ser1125Thr) | |
| 7 | g.117627669T>C | CA368997200 | CFTR | c.3517+99T>C (n.3517+99T>C) c.*3330T>C (n.*3330T>C) c.3433T>C (p.Ser1145Pro) c.3616T>C (p.Ser1206Pro) c.*269T>C (n.*269T>C) c.*277T>C (n.*277T>C) c.*1991T>C (n.*1991T>C) c.3610T>C (p.Ser1204Pro) c.*3440T>C (n.*3440T>C) c.3190T>C (p.Ser1064Pro) c.364T>C (p.Ser122Pro) c.1403T>C (n.1403T>C) c.198T>C c.1167+99T>C c.2398T>C (p.Ser800Pro) c.3526T>C (p.Ser1176Pro) c.441T>C c.3706T>C (p.Ser1236Pro) c.3373T>C (p.Ser1125Pro) | |
| 7 | g.117627669T>G | CA368997198 | CFTR | c.3517+99T>G (n.3517+99T>G) c.*3330T>G (n.*3330T>G) c.3433T>G (p.Ser1145Ala) c.3616T>G (p.Ser1206Ala) c.*269T>G (n.*269T>G) c.*277T>G (n.*277T>G) c.*1991T>G (n.*1991T>G) c.3610T>G (p.Ser1204Ala) c.*3440T>G (n.*3440T>G) c.3190T>G (p.Ser1064Ala) c.364T>G (p.Ser122Ala) c.1403T>G (n.1403T>G) c.198T>G c.1167+99T>G c.2398T>G (p.Ser800Ala) c.3526T>G (p.Ser1176Ala) c.441T>G c.3706T>G (p.Ser1236Ala) c.3373T>G (p.Ser1125Ala) | dbSNP gnomAD v4 |
| 7 | g.117627669T= | CA1737398684 | CFTR | c.3517+99T= (n.3517+99T=) c.*3330T= (n.*3330T=) c.3433T= (p.Ser1145=) c.3616T= (p.Ser1206=) c.*269T= (n.*269T=) c.*277T= (n.*277T=) c.*1991T= (n.*1991T=) c.3610T= (p.Ser1204=) c.*3440T= (n.*3440T=) c.3190T= (p.Ser1064=) c.364T= (p.Ser122=) c.1403T= (n.1403T=) c.198T= c.1167+99T= c.2398T= (p.Ser800=) c.3526T= (p.Ser1176=) c.441T= c.3706T= (p.Ser1236=) c.3373T= (p.Ser1125=) | |
| 7 | g.117627670C>A | CA327240 | CFTR | c.3517+100C>A (n.3517+100C>A) c.*3331C>A (n.*3331C>A) c.3434C>A (p.Ser1145Ter) c.3617C>A (p.Ser1206Ter) c.*270C>A (n.*270C>A) c.*278C>A (n.*278C>A) c.*1992C>A (n.*1992C>A) c.3611C>A (p.Ser1204Ter) c.*3441C>A (n.*3441C>A) c.3191C>A (p.Ser1064Ter) c.365C>A (p.Ser122Ter) c.1404C>A (n.1404C>A) c.199C>A c.1167+100C>A c.2399C>A (p.Ser800Ter) c.3527C>A (p.Ser1176Ter) c.442C>A c.3707C>A (p.Ser1236Ter) c.3374C>A (p.Ser1125Ter) | ClinVar dbSNP |