UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.117627578_117627590del | CA2580076327 | CFTR | c.3517+8_3517+20del (n.3517+8_3517+20del) c.*3239_*3251del (n.*3239_*3251del) c.3342_3354del (p.Thr1115AsnfsTer12) c.3525_3537del (p.Thr1176AsnfsTer12) c.*178_*190del (n.*178_*190del) c.*186_*198del (n.*186_*198del) c.*1900_*1912del (n.*1900_*1912del) c.3519_3531del (p.Thr1174AsnfsTer12) c.*3349_*3361del (n.*3349_*3361del) c.3099_3111del (p.Thr1034AsnfsTer12) c.273_285del (p.Thr92AsnfsTer12) c.1312_1324del (n.1312_1324del) c.107_119del c.1167+8_1167+20del c.2307_2319del (p.Thr770AsnfsTer12) c.3435_3447del (p.Thr1146AsnfsTer12) c.350_362del c.3615_3627del (p.Thr1206AsnfsTer12) c.3282_3294del (p.Thr1095AsnfsTer12) | ClinVar |
| 7 | g.117627576C>A | CA368996228 | CFTR | c.3517+6C>A (n.3517+6C>A) c.*3237C>A (n.*3237C>A) c.3340C>A (p.Pro1114Thr) c.3523C>A (p.Pro1175Thr) c.*176C>A (n.*176C>A) c.*184C>A (n.*184C>A) c.*1898C>A (n.*1898C>A) c.3517C>A (p.Pro1173Thr) c.*3347C>A (n.*3347C>A) c.3097C>A (p.Pro1033Thr) c.271C>A (p.Pro91Thr) c.1310C>A (n.1310C>A) c.105C>A c.1167+6C>A c.2305C>A (p.Pro769Thr) c.3433C>A (p.Pro1145Thr) c.348C>A c.3613C>A (p.Pro1205Thr) c.3280C>A (p.Pro1094Thr) | |
| 7 | g.117627576C>G | CA368996229 | CFTR | c.3517+6C>G (n.3517+6C>G) c.*3237C>G (n.*3237C>G) c.3340C>G (p.Pro1114Ala) c.3523C>G (p.Pro1175Ala) c.*176C>G (n.*176C>G) c.*184C>G (n.*184C>G) c.*1898C>G (n.*1898C>G) c.3517C>G (p.Pro1173Ala) c.*3347C>G (n.*3347C>G) c.3097C>G (p.Pro1033Ala) c.271C>G (p.Pro91Ala) c.1310C>G (n.1310C>G) c.105C>G c.1167+6C>G c.2305C>G (p.Pro769Ala) c.3433C>G (p.Pro1145Ala) c.348C>G c.3613C>G (p.Pro1205Ala) c.3280C>G (p.Pro1094Ala) | |
| 7 | g.117627576C>T | CA368996231 | CFTR | c.3517+6C>T (n.3517+6C>T) c.*3237C>T (n.*3237C>T) c.3340C>T (p.Pro1114Ser) c.3523C>T (p.Pro1175Ser) c.*176C>T (n.*176C>T) c.*184C>T (n.*184C>T) c.*1898C>T (n.*1898C>T) c.3517C>T (p.Pro1173Ser) c.*3347C>T (n.*3347C>T) c.3097C>T (p.Pro1033Ser) c.271C>T (p.Pro91Ser) c.1310C>T (n.1310C>T) c.105C>T c.1167+6C>T c.2305C>T (p.Pro769Ser) c.3433C>T (p.Pro1145Ser) c.348C>T c.3613C>T (p.Pro1205Ser) c.3280C>T (p.Pro1094Ser) | ClinVar |
| 7 | g.117627577C>A | CA368996234 | CFTR | c.3517+7C>A (n.3517+7C>A) c.*3238C>A (n.*3238C>A) c.3341C>A (p.Pro1114His) c.3524C>A (p.Pro1175His) c.*177C>A (n.*177C>A) c.*185C>A (n.*185C>A) c.*1899C>A (n.*1899C>A) c.3518C>A (p.Pro1173His) c.*3348C>A (n.*3348C>A) c.3098C>A (p.Pro1033His) c.272C>A (p.Pro91His) c.1311C>A (n.1311C>A) c.106C>A c.1167+7C>A c.2306C>A (p.Pro769His) c.3434C>A (p.Pro1145His) c.349C>A c.3614C>A (p.Pro1205His) c.3281C>A (p.Pro1094His) | |
| 7 | g.117627577C>G | CA368996239 | CFTR | c.3517+7C>G (n.3517+7C>G) c.*3238C>G (n.*3238C>G) c.3341C>G (p.Pro1114Arg) c.3524C>G (p.Pro1175Arg) c.*177C>G (n.*177C>G) c.*185C>G (n.*185C>G) c.*1899C>G (n.*1899C>G) c.3518C>G (p.Pro1173Arg) c.*3348C>G (n.*3348C>G) c.3098C>G (p.Pro1033Arg) c.272C>G (p.Pro91Arg) c.1311C>G (n.1311C>G) c.106C>G c.1167+7C>G c.2306C>G (p.Pro769Arg) c.3434C>G (p.Pro1145Arg) c.349C>G c.3614C>G (p.Pro1205Arg) c.3281C>G (p.Pro1094Arg) | |
| 7 | g.117627577C>T | CA368996238 | CFTR | c.3517+7C>T (n.3517+7C>T) c.*3238C>T (n.*3238C>T) c.3341C>T (p.Pro1114Leu) c.3524C>T (p.Pro1175Leu) c.*177C>T (n.*177C>T) c.*185C>T (n.*185C>T) c.*1899C>T (n.*1899C>T) c.3518C>T (p.Pro1173Leu) c.*3348C>T (n.*3348C>T) c.3098C>T (p.Pro1033Leu) c.272C>T (p.Pro91Leu) c.1311C>T (n.1311C>T) c.106C>T c.1167+7C>T c.2306C>T (p.Pro769Leu) c.3434C>T (p.Pro1145Leu) c.349C>T c.3614C>T (p.Pro1205Leu) c.3281C>T (p.Pro1094Leu) | ClinVar |
| 7 | g.117627578T>A | CA457231196 | CFTR | c.3517+8T>A (n.3517+8T>A) c.*3239T>A (n.*3239T>A) c.3342T>A (p.Pro1114=) c.3525T>A (p.Pro1175=) c.*178T>A (n.*178T>A) c.*186T>A (n.*186T>A) c.*1900T>A (n.*1900T>A) c.3519T>A (p.Pro1173=) c.*3349T>A (n.*3349T>A) c.3099T>A (p.Pro1033=) c.273T>A (p.Pro91=) c.1312T>A (n.1312T>A) c.107T>A c.1167+8T>A c.2307T>A (p.Pro769=) c.3435T>A (p.Pro1145=) c.350T>A c.3615T>A (p.Pro1205=) c.3282T>A (p.Pro1094=) | |
| 7 | g.117627578T>C | CA457231194 | CFTR | c.3517+8T>C (n.3517+8T>C) c.*3239T>C (n.*3239T>C) c.3342T>C (p.Pro1114=) c.3525T>C (p.Pro1175=) c.*178T>C (n.*178T>C) c.*186T>C (n.*186T>C) c.*1900T>C (n.*1900T>C) c.3519T>C (p.Pro1173=) c.*3349T>C (n.*3349T>C) c.3099T>C (p.Pro1033=) c.273T>C (p.Pro91=) c.1312T>C (n.1312T>C) c.107T>C c.1167+8T>C c.2307T>C (p.Pro769=) c.3435T>C (p.Pro1145=) c.350T>C c.3615T>C (p.Pro1205=) c.3282T>C (p.Pro1094=) | |
| 7 | g.117627578T>G | CA457231195 | CFTR | c.3517+8T>G (n.3517+8T>G) c.*3239T>G (n.*3239T>G) c.3342T>G (p.Pro1114=) c.3525T>G (p.Pro1175=) c.*178T>G (n.*178T>G) c.*186T>G (n.*186T>G) c.*1900T>G (n.*1900T>G) c.3519T>G (p.Pro1173=) c.*3349T>G (n.*3349T>G) c.3099T>G (p.Pro1033=) c.273T>G (p.Pro91=) c.1312T>G (n.1312T>G) c.107T>G c.1167+8T>G c.2307T>G (p.Pro769=) c.3435T>G (p.Pro1145=) c.350T>G c.3615T>G (p.Pro1205=) c.3282T>G (p.Pro1094=) | |
| 7 | g.117627579A>C | CA368996242 | CFTR | c.3517+9A>C (n.3517+9A>C) c.*3240A>C (n.*3240A>C) c.3343A>C (p.Thr1115Pro) c.3526A>C (p.Thr1176Pro) c.*179A>C (n.*179A>C) c.*187A>C (n.*187A>C) c.*1901A>C (n.*1901A>C) c.3520A>C (p.Thr1174Pro) c.*3350A>C (n.*3350A>C) c.3100A>C (p.Thr1034Pro) c.274A>C (p.Thr92Pro) c.1313A>C (n.1313A>C) c.108A>C c.1167+9A>C c.2308A>C (p.Thr770Pro) c.3436A>C (p.Thr1146Pro) c.351A>C c.3616A>C (p.Thr1206Pro) c.3283A>C (p.Thr1095Pro) | |
| 7 | g.117627579A>G | CA368996244 | CFTR | c.3517+9A>G (n.3517+9A>G) c.*3240A>G (n.*3240A>G) c.3343A>G (p.Thr1115Ala) c.3526A>G (p.Thr1176Ala) c.*179A>G (n.*179A>G) c.*187A>G (n.*187A>G) c.*1901A>G (n.*1901A>G) c.3520A>G (p.Thr1174Ala) c.*3350A>G (n.*3350A>G) c.3100A>G (p.Thr1034Ala) c.274A>G (p.Thr92Ala) c.1313A>G (n.1313A>G) c.108A>G c.1167+9A>G c.2308A>G (p.Thr770Ala) c.3436A>G (p.Thr1146Ala) c.351A>G c.3616A>G (p.Thr1206Ala) c.3283A>G (p.Thr1095Ala) | |
| 7 | g.117627579A>T | CA368996246 | CFTR | c.3517+9A>T (n.3517+9A>T) c.*3240A>T (n.*3240A>T) c.3343A>T (p.Thr1115Ser) c.3526A>T (p.Thr1176Ser) c.*179A>T (n.*179A>T) c.*187A>T (n.*187A>T) c.*1901A>T (n.*1901A>T) c.3520A>T (p.Thr1174Ser) c.*3350A>T (n.*3350A>T) c.3100A>T (p.Thr1034Ser) c.274A>T (p.Thr92Ser) c.1313A>T (n.1313A>T) c.108A>T c.1167+9A>T c.2308A>T (p.Thr770Ser) c.3436A>T (p.Thr1146Ser) c.351A>T c.3616A>T (p.Thr1206Ser) c.3283A>T (p.Thr1095Ser) | |
| 7 | g.117627579_117627580delinsAC | CA1737398629 | CFTR | c.3517+9_3517+10delinsAC (n.3517+9_3517+10delinsAC) c.*3240_*3241delinsAC (n.*3240_*3241delinsAC) c.3343_3344delinsAC (p.Thr1115=) c.3526_3527delinsAC (p.Thr1176=) c.*179_*180delinsAC (n.*179_*180delinsAC) c.*187_*188delinsAC (n.*187_*188delinsAC) c.*1901_*1902delinsAC (n.*1901_*1902delinsAC) c.3520_3521delinsAC (p.Thr1174=) c.*3350_*3351delinsAC (n.*3350_*3351delinsAC) c.3100_3101delinsAC (p.Thr1034=) c.274_275delinsAC (p.Thr92=) c.1313_1314delinsAC (n.1313_1314delinsAC) c.108_109delinsAC c.1167+9_1167+10delinsAC c.2308_2309delinsAC (p.Thr770=) c.3436_3437delinsAC (p.Thr1146=) c.351_352delinsAC c.3616_3617delinsAC (p.Thr1206=) c.3283_3284delinsAC (p.Thr1095=) | |
| 7 | g.117627580C>A | CA368996250 | CFTR | c.3517+10C>A (n.3517+10C>A) c.*3241C>A (n.*3241C>A) c.3344C>A (p.Thr1115Asn) c.3527C>A (p.Thr1176Asn) c.*180C>A (n.*180C>A) c.*188C>A (n.*188C>A) c.*1902C>A (n.*1902C>A) c.3521C>A (p.Thr1174Asn) c.*3351C>A (n.*3351C>A) c.3101C>A (p.Thr1034Asn) c.275C>A (p.Thr92Asn) c.1314C>A (n.1314C>A) c.109C>A c.1167+10C>A c.2309C>A (p.Thr770Asn) c.3437C>A (p.Thr1146Asn) c.352C>A c.3617C>A (p.Thr1206Asn) c.3284C>A (p.Thr1095Asn) | |
| 7 | g.117627580C>G | CA368996252 | CFTR | c.3517+10C>G (n.3517+10C>G) c.*3241C>G (n.*3241C>G) c.3344C>G (p.Thr1115Ser) c.3527C>G (p.Thr1176Ser) c.*180C>G (n.*180C>G) c.*188C>G (n.*188C>G) c.*1902C>G (n.*1902C>G) c.3521C>G (p.Thr1174Ser) c.*3351C>G (n.*3351C>G) c.3101C>G (p.Thr1034Ser) c.275C>G (p.Thr92Ser) c.1314C>G (n.1314C>G) c.109C>G c.1167+10C>G c.2309C>G (p.Thr770Ser) c.3437C>G (p.Thr1146Ser) c.352C>G c.3617C>G (p.Thr1206Ser) c.3284C>G (p.Thr1095Ser) | ClinVar |
| 7 | g.117627580C>T | CA368996254 | CFTR | c.3517+10C>T (n.3517+10C>T) c.*3241C>T (n.*3241C>T) c.3344C>T (p.Thr1115Ile) c.3527C>T (p.Thr1176Ile) c.*180C>T (n.*180C>T) c.*188C>T (n.*188C>T) c.*1902C>T (n.*1902C>T) c.3521C>T (p.Thr1174Ile) c.*3351C>T (n.*3351C>T) c.3101C>T (p.Thr1034Ile) c.275C>T (p.Thr92Ile) c.1314C>T (n.1314C>T) c.109C>T c.1167+10C>T c.2309C>T (p.Thr770Ile) c.3437C>T (p.Thr1146Ile) c.352C>T c.3617C>T (p.Thr1206Ile) c.3284C>T (p.Thr1095Ile) | |
| 7 | g.117627581dup | CA164976506 | CFTR | c.3517+11dup (n.3517+11dup) c.*3242dup (n.*3242dup) c.3345dup (p.Lys1116GlnfsTer18) c.3528dup (p.Lys1177GlnfsTer18) c.*181dup (n.*181dup) c.*189dup (n.*189dup) c.*1903dup (n.*1903dup) c.3522dup (p.Lys1175GlnfsTer18) c.*3352dup (n.*3352dup) c.3102dup (p.Lys1035GlnfsTer18) c.276dup (p.Lys93GlnfsTer18) c.1315dup (n.1315dup) c.110dup c.1167+11dup c.2310dup (p.Lys771GlnfsTer18) c.3438dup (p.Lys1147GlnfsTer18) c.353dup c.3618dup (p.Lys1207GlnfsTer18) c.3285dup (p.Lys1096GlnfsTer18) | |
| 7 | g.117627581del | CA342839 | CFTR | c.3517+11del (n.3517+11del) c.*3242del (n.*3242del) c.3345del (p.Lys1116SerfsTer15) c.3528del (p.Lys1177SerfsTer15) c.*181del (n.*181del) c.*189del (n.*189del) c.*1903del (n.*1903del) c.3522del (p.Lys1175SerfsTer15) c.*3352del (n.*3352del) c.3102del (p.Lys1035SerfsTer15) c.276del (p.Lys93SerfsTer15) c.1315del (n.1315del) c.110del c.1167+11del c.2310del (p.Lys771SerfsTer15) c.3438del (p.Lys1147SerfsTer15) c.353del c.3618del (p.Lys1207SerfsTer15) c.3285del (p.Lys1096SerfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627581C>A | CA457231197 | CFTR | c.3517+11C>A (n.3517+11C>A) c.*3242C>A (n.*3242C>A) c.3345C>A (p.Thr1115=) c.3528C>A (p.Thr1176=) c.*181C>A (n.*181C>A) c.*189C>A (n.*189C>A) c.*1903C>A (n.*1903C>A) c.3522C>A (p.Thr1174=) c.*3352C>A (n.*3352C>A) c.3102C>A (p.Thr1034=) c.276C>A (p.Thr92=) c.1315C>A (n.1315C>A) c.110C>A c.1167+11C>A c.2310C>A (p.Thr770=) c.3438C>A (p.Thr1146=) c.353C>A c.3618C>A (p.Thr1206=) c.3285C>A (p.Thr1095=) | |
| 7 | g.117627581C>G | CA457231198 | CFTR | c.3517+11C>G (n.3517+11C>G) c.*3242C>G (n.*3242C>G) c.3345C>G (p.Thr1115=) c.3528C>G (p.Thr1176=) c.*181C>G (n.*181C>G) c.*189C>G (n.*189C>G) c.*1903C>G (n.*1903C>G) c.3522C>G (p.Thr1174=) c.*3352C>G (n.*3352C>G) c.3102C>G (p.Thr1034=) c.276C>G (p.Thr92=) c.1315C>G (n.1315C>G) c.110C>G c.1167+11C>G c.2310C>G (p.Thr770=) c.3438C>G (p.Thr1146=) c.353C>G c.3618C>G (p.Thr1206=) c.3285C>G (p.Thr1095=) | |
| 7 | g.117627581C>T | CA457231199 | CFTR | c.3517+11C>T (n.3517+11C>T) c.*3242C>T (n.*3242C>T) c.3345C>T (p.Thr1115=) c.3528C>T (p.Thr1176=) c.*181C>T (n.*181C>T) c.*189C>T (n.*189C>T) c.*1903C>T (n.*1903C>T) c.3522C>T (p.Thr1174=) c.*3352C>T (n.*3352C>T) c.3102C>T (p.Thr1034=) c.276C>T (p.Thr92=) c.1315C>T (n.1315C>T) c.110C>T c.1167+11C>T c.2310C>T (p.Thr770=) c.3438C>T (p.Thr1146=) c.353C>T c.3618C>T (p.Thr1206=) c.3285C>T (p.Thr1095=) | ClinVar |
| 7 | g.117627581_117627582delinsCA | CA1737398630 | CFTR | c.3517+11_3517+12delinsCA (n.3517+11_3517+12delinsCA) c.*3242_*3243delinsCA (n.*3242_*3243delinsCA) c.3345_3346delinsCA (p.Thr1115=) c.3528_3529delinsCA (p.Thr1176=) c.*181_*182delinsCA (n.*181_*182delinsCA) c.*189_*190delinsCA (n.*189_*190delinsCA) c.*1903_*1904delinsCA (n.*1903_*1904delinsCA) c.3522_3523delinsCA (p.Thr1174=) c.*3352_*3353delinsCA (n.*3352_*3353delinsCA) c.3102_3103delinsCA (p.Thr1034=) c.276_277delinsCA (p.Thr92=) c.1315_1316delinsCA (n.1315_1316delinsCA) c.110_111delinsCA c.1167+11_1167+12delinsCA c.2310_2311delinsCA (p.Thr770=) c.3438_3439delinsCA (p.Thr1146=) c.353_354delinsCA c.3618_3619delinsCA (p.Thr1206=) c.3285_3286delinsCA (p.Thr1095=) | |
| 7 | g.117627582A= | CA1737398631 | CFTR | c.3517+12A= (n.3517+12A=) c.*3243A= (n.*3243A=) c.3346A= (p.Lys1116=) c.3529A= (p.Lys1177=) c.*182A= (n.*182A=) c.*190A= (n.*190A=) c.*1904A= (n.*1904A=) c.3523A= (p.Lys1175=) c.*3353A= (n.*3353A=) c.3103A= (p.Lys1035=) c.277A= (p.Lys93=) c.1316A= (n.1316A=) c.111A= c.1167+12A= c.2311A= (p.Lys771=) c.3439A= (p.Lys1147=) c.354A= c.3619A= (p.Lys1207=) c.3286A= (p.Lys1096=) | |
| 7 | g.117627582A>C | CA368996262 | CFTR | c.3517+12A>C (n.3517+12A>C) c.*3243A>C (n.*3243A>C) c.3346A>C (p.Lys1116Gln) c.3529A>C (p.Lys1177Gln) c.*182A>C (n.*182A>C) c.*190A>C (n.*190A>C) c.*1904A>C (n.*1904A>C) c.3523A>C (p.Lys1175Gln) c.*3353A>C (n.*3353A>C) c.3103A>C (p.Lys1035Gln) c.277A>C (p.Lys93Gln) c.1316A>C (n.1316A>C) c.111A>C c.1167+12A>C c.2311A>C (p.Lys771Gln) c.3439A>C (p.Lys1147Gln) c.354A>C c.3619A>C (p.Lys1207Gln) c.3286A>C (p.Lys1096Gln) | |
| 7 | g.117627582A>G | CA368996261 | CFTR | c.3517+12A>G (n.3517+12A>G) c.*3243A>G (n.*3243A>G) c.3346A>G (p.Lys1116Glu) c.3529A>G (p.Lys1177Glu) c.*182A>G (n.*182A>G) c.*190A>G (n.*190A>G) c.*1904A>G (n.*1904A>G) c.3523A>G (p.Lys1175Glu) c.*3353A>G (n.*3353A>G) c.3103A>G (p.Lys1035Glu) c.277A>G (p.Lys93Glu) c.1316A>G (n.1316A>G) c.111A>G c.1167+12A>G c.2311A>G (p.Lys771Glu) c.3439A>G (p.Lys1147Glu) c.354A>G c.3619A>G (p.Lys1207Glu) c.3286A>G (p.Lys1096Glu) | ClinVar dbSNP |
| 7 | g.117627582A>T | CA327223 | CFTR | c.3517+12A>T (n.3517+12A>T) c.*3243A>T (n.*3243A>T) c.3346A>T (p.Lys1116Ter) c.3529A>T (p.Lys1177Ter) c.*182A>T (n.*182A>T) c.*190A>T (n.*190A>T) c.*1904A>T (n.*1904A>T) c.3523A>T (p.Lys1175Ter) c.*3353A>T (n.*3353A>T) c.3103A>T (p.Lys1035Ter) c.277A>T (p.Lys93Ter) c.1316A>T (n.1316A>T) c.111A>T c.1167+12A>T c.2311A>T (p.Lys771Ter) c.3439A>T (p.Lys1147Ter) c.354A>T c.3619A>T (p.Lys1207Ter) c.3286A>T (p.Lys1096Ter) | ClinVar dbSNP |
| 7 | g.117627583del | CA327225 | CFTR | c.3517+13del (n.3517+13del) c.*3244del (n.*3244del) c.3347del (p.Lys1116SerfsTer15) c.3530del (p.Lys1177SerfsTer15) c.*183del (n.*183del) c.*191del (n.*191del) c.*1905del (n.*1905del) c.3524del (p.Lys1175SerfsTer15) c.*3354del (n.*3354del) c.3104del (p.Lys1035SerfsTer15) c.278del (p.Lys93SerfsTer15) c.1317del (n.1317del) c.112del c.1167+13del c.2312del (p.Lys771SerfsTer15) c.3440del (p.Lys1147SerfsTer15) c.355del c.3620del (p.Lys1207SerfsTer15) c.3287del (p.Lys1096SerfsTer15) | ClinVar dbSNP |
| 7 | g.117627583A= | CA1737398632 | CFTR | c.3517+13A= (n.3517+13A=) c.*3244A= (n.*3244A=) c.3347A= (p.Lys1116=) c.3530A= (p.Lys1177=) c.*183A= (n.*183A=) c.*191A= (n.*191A=) c.*1905A= (n.*1905A=) c.3524A= (p.Lys1175=) c.*3354A= (n.*3354A=) c.3104A= (p.Lys1035=) c.278A= (p.Lys93=) c.1317A= (n.1317A=) c.112A= c.1167+13A= c.2312A= (p.Lys771=) c.3440A= (p.Lys1147=) c.355A= c.3620A= (p.Lys1207=) c.3287A= (p.Lys1096=) | |
| 7 | g.117627583A>C | CA4451492 | CFTR | c.3517+13A>C (n.3517+13A>C) c.*3244A>C (n.*3244A>C) c.3347A>C (p.Lys1116Thr) c.3530A>C (p.Lys1177Thr) c.*183A>C (n.*183A>C) c.*191A>C (n.*191A>C) c.*1905A>C (n.*1905A>C) c.3524A>C (p.Lys1175Thr) c.*3354A>C (n.*3354A>C) c.3104A>C (p.Lys1035Thr) c.278A>C (p.Lys93Thr) c.1317A>C (n.1317A>C) c.112A>C c.1167+13A>C c.2312A>C (p.Lys771Thr) c.3440A>C (p.Lys1147Thr) c.355A>C c.3620A>C (p.Lys1207Thr) c.3287A>C (p.Lys1096Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627583A>G | CA4451491 | CFTR | c.3517+13A>G (n.3517+13A>G) c.*3244A>G (n.*3244A>G) c.3347A>G (p.Lys1116Arg) c.3530A>G (p.Lys1177Arg) c.*183A>G (n.*183A>G) c.*191A>G (n.*191A>G) c.*1905A>G (n.*1905A>G) c.3524A>G (p.Lys1175Arg) c.*3354A>G (n.*3354A>G) c.3104A>G (p.Lys1035Arg) c.278A>G (p.Lys93Arg) c.1317A>G (n.1317A>G) c.112A>G c.1167+13A>G c.2312A>G (p.Lys771Arg) c.3440A>G (p.Lys1147Arg) c.355A>G c.3620A>G (p.Lys1207Arg) c.3287A>G (p.Lys1096Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627583A>T | CA368996265 | CFTR | c.3517+13A>T (n.3517+13A>T) c.*3244A>T (n.*3244A>T) c.3347A>T (p.Lys1116Met) c.3530A>T (p.Lys1177Met) c.*183A>T (n.*183A>T) c.*191A>T (n.*191A>T) c.*1905A>T (n.*1905A>T) c.3524A>T (p.Lys1175Met) c.*3354A>T (n.*3354A>T) c.3104A>T (p.Lys1035Met) c.278A>T (p.Lys93Met) c.1317A>T (n.1317A>T) c.112A>T c.1167+13A>T c.2312A>T (p.Lys771Met) c.3440A>T (p.Lys1147Met) c.355A>T c.3620A>T (p.Lys1207Met) c.3287A>T (p.Lys1096Met) | |
| 7 | g.117627584G>A | CA4451493 | CFTR | c.3517+14G>A (n.3517+14G>A) c.*3245G>A (n.*3245G>A) c.3348G>A (p.Lys1116=) c.3531G>A (p.Lys1177=) c.*184G>A (n.*184G>A) c.*192G>A (n.*192G>A) c.*1906G>A (n.*1906G>A) c.3525G>A (p.Lys1175=) c.*3355G>A (n.*3355G>A) c.3105G>A (p.Lys1035=) c.279G>A (p.Lys93=) c.1318G>A (n.1318G>A) c.113G>A c.1167+14G>A c.2313G>A (p.Lys771=) c.3441G>A (p.Lys1147=) c.356G>A c.3621G>A (p.Lys1207=) c.3288G>A (p.Lys1096=) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117627584G>C | CA368996270 | CFTR | c.3517+14G>C (n.3517+14G>C) c.*3245G>C (n.*3245G>C) c.3348G>C (p.Lys1116Asn) c.3531G>C (p.Lys1177Asn) c.*184G>C (n.*184G>C) c.*192G>C (n.*192G>C) c.*1906G>C (n.*1906G>C) c.3525G>C (p.Lys1175Asn) c.*3355G>C (n.*3355G>C) c.3105G>C (p.Lys1035Asn) c.279G>C (p.Lys93Asn) c.1318G>C (n.1318G>C) c.113G>C c.1167+14G>C c.2313G>C (p.Lys771Asn) c.3441G>C (p.Lys1147Asn) c.356G>C c.3621G>C (p.Lys1207Asn) c.3288G>C (p.Lys1096Asn) | gnomAD v4 |
| 7 | g.117627584G= | CA1737398633 | CFTR | c.3517+14G= (n.3517+14G=) c.*3245G= (n.*3245G=) c.3348G= (p.Lys1116=) c.3531G= (p.Lys1177=) c.*184G= (n.*184G=) c.*192G= (n.*192G=) c.*1906G= (n.*1906G=) c.3525G= (p.Lys1175=) c.*3355G= (n.*3355G=) c.3105G= (p.Lys1035=) c.279G= (p.Lys93=) c.1318G= (n.1318G=) c.113G= c.1167+14G= c.2313G= (p.Lys771=) c.3441G= (p.Lys1147=) c.356G= c.3621G= (p.Lys1207=) c.3288G= (p.Lys1096=) | |
| 7 | g.117627584G>T | CA368996272 | CFTR | c.3517+14G>T (n.3517+14G>T) c.*3245G>T (n.*3245G>T) c.3348G>T (p.Lys1116Asn) c.3531G>T (p.Lys1177Asn) c.*184G>T (n.*184G>T) c.*192G>T (n.*192G>T) c.*1906G>T (n.*1906G>T) c.3525G>T (p.Lys1175Asn) c.*3355G>T (n.*3355G>T) c.3105G>T (p.Lys1035Asn) c.279G>T (p.Lys93Asn) c.1318G>T (n.1318G>T) c.113G>T c.1167+14G>T c.2313G>T (p.Lys771Asn) c.3441G>T (p.Lys1147Asn) c.356G>T c.3621G>T (p.Lys1207Asn) c.3288G>T (p.Lys1096Asn) | |
| 7 | g.117627585T>A | CA368996276 | CFTR | c.3517+15T>A (n.3517+15T>A) c.*3246T>A (n.*3246T>A) c.3349T>A (p.Ser1117Thr) c.3532T>A (p.Ser1178Thr) c.*185T>A (n.*185T>A) c.*193T>A (n.*193T>A) c.*1907T>A (n.*1907T>A) c.3526T>A (p.Ser1176Thr) c.*3356T>A (n.*3356T>A) c.3106T>A (p.Ser1036Thr) c.280T>A (p.Ser94Thr) c.1319T>A (n.1319T>A) c.114T>A c.1167+15T>A c.2314T>A (p.Ser772Thr) c.3442T>A (p.Ser1148Thr) c.357T>A c.3622T>A (p.Ser1208Thr) c.3289T>A (p.Ser1097Thr) | ClinVar |
| 7 | g.117627585T>C | CA368996278 | CFTR | c.3517+15T>C (n.3517+15T>C) c.*3246T>C (n.*3246T>C) c.3349T>C (p.Ser1117Pro) c.3532T>C (p.Ser1178Pro) c.*185T>C (n.*185T>C) c.*193T>C (n.*193T>C) c.*1907T>C (n.*1907T>C) c.3526T>C (p.Ser1176Pro) c.*3356T>C (n.*3356T>C) c.3106T>C (p.Ser1036Pro) c.280T>C (p.Ser94Pro) c.1319T>C (n.1319T>C) c.114T>C c.1167+15T>C c.2314T>C (p.Ser772Pro) c.3442T>C (p.Ser1148Pro) c.357T>C c.3622T>C (p.Ser1208Pro) c.3289T>C (p.Ser1097Pro) | |
| 7 | g.117627585T>G | CA368996280 | CFTR | c.3517+15T>G (n.3517+15T>G) c.*3246T>G (n.*3246T>G) c.3349T>G (p.Ser1117Ala) c.3532T>G (p.Ser1178Ala) c.*185T>G (n.*185T>G) c.*193T>G (n.*193T>G) c.*1907T>G (n.*1907T>G) c.3526T>G (p.Ser1176Ala) c.*3356T>G (n.*3356T>G) c.3106T>G (p.Ser1036Ala) c.280T>G (p.Ser94Ala) c.1319T>G (n.1319T>G) c.114T>G c.1167+15T>G c.2314T>G (p.Ser772Ala) c.3442T>G (p.Ser1148Ala) c.357T>G c.3622T>G (p.Ser1208Ala) c.3289T>G (p.Ser1097Ala) | |
| 7 | g.117627585_117627588dup | CA254117 | CFTR | c.3517+15_3517+18dup (n.3517+15_3517+18dup) c.*3246_*3249dup (n.*3246_*3249dup) c.3349_3352dup (p.Thr1118IlefsTer17) c.3532_3535dup (p.Thr1179IlefsTer17) c.*185_*188dup (n.*185_*188dup) c.*193_*196dup (n.*193_*196dup) c.*1907_*1910dup (n.*1907_*1910dup) c.3526_3529dup (p.Thr1177IlefsTer17) c.*3356_*3359dup (n.*3356_*3359dup) c.3106_3109dup (p.Thr1037IlefsTer17) c.280_283dup (p.Thr95IlefsTer17) c.1319_1322dup (n.1319_1322dup) c.114_117dup c.1167+15_1167+18dup c.2314_2317dup (p.Thr773IlefsTer17) c.3442_3445dup (p.Thr1149IlefsTer17) c.357_360dup c.3622_3625dup (p.Thr1209IlefsTer17) c.3289_3292dup (p.Thr1098IlefsTer17) | ClinVar dbSNP |
| 7 | g.117627585_117627589delinsTCAAC | CA1737398634 | CFTR | c.3517+15_3517+19delinsTCAAC (n.3517+15_3517+19delinsTCAAC) c.*3246_*3250delinsTCAAC (n.*3246_*3250delinsTCAAC) c.3349_3353delinsTCAAC (p.Ser1117=) c.3532_3536delinsTCAAC (p.Ser1178=) c.*185_*189delinsTCAAC (n.*185_*189delinsTCAAC) c.*193_*197delinsTCAAC (n.*193_*197delinsTCAAC) c.*1907_*1911delinsTCAAC (n.*1907_*1911delinsTCAAC) c.3526_3530delinsTCAAC (p.Ser1176=) c.*3356_*3360delinsTCAAC (n.*3356_*3360delinsTCAAC) c.3106_3110delinsTCAAC (p.Ser1036=) c.280_284delinsTCAAC (p.Ser94=) c.1319_1323delinsTCAAC (n.1319_1323delinsTCAAC) c.114_118delinsTCAAC c.1167+15_1167+19delinsTCAAC c.2314_2318delinsTCAAC (p.Ser772=) c.3442_3446delinsTCAAC (p.Ser1148=) c.357_361delinsTCAAC c.3622_3626delinsTCAAC (p.Ser1208=) c.3289_3293delinsTCAAC (p.Ser1097=) | |
| 7 | g.117627586C>A | CA16041137 | CFTR | c.3517+16C>A (n.3517+16C>A) c.*3247C>A (n.*3247C>A) c.3350C>A (p.Ser1117Ter) c.3533C>A (p.Ser1178Ter) c.*186C>A (n.*186C>A) c.*194C>A (n.*194C>A) c.*1908C>A (n.*1908C>A) c.3527C>A (p.Ser1176Ter) c.*3357C>A (n.*3357C>A) c.3107C>A (p.Ser1036Ter) c.281C>A (p.Ser94Ter) c.1320C>A (n.1320C>A) c.115C>A c.1167+16C>A c.2315C>A (p.Ser772Ter) c.3443C>A (p.Ser1148Ter) c.358C>A c.3623C>A (p.Ser1208Ter) c.3290C>A (p.Ser1097Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627586C= | CA1737398635 | CFTR | c.3517+16C= (n.3517+16C=) c.*3247C= (n.*3247C=) c.3350C= (p.Ser1117=) c.3533C= (p.Ser1178=) c.*186C= (n.*186C=) c.*194C= (n.*194C=) c.*1908C= (n.*1908C=) c.3527C= (p.Ser1176=) c.*3357C= (n.*3357C=) c.3107C= (p.Ser1036=) c.281C= (p.Ser94=) c.1320C= (n.1320C=) c.115C= c.1167+16C= c.2315C= (p.Ser772=) c.3443C= (p.Ser1148=) c.358C= c.3623C= (p.Ser1208=) c.3290C= (p.Ser1097=) | |
| 7 | g.117627586C>G | CA368996286 | CFTR | c.3517+16C>G (n.3517+16C>G) c.*3247C>G (n.*3247C>G) c.3350C>G (p.Ser1117Ter) c.3533C>G (p.Ser1178Ter) c.*186C>G (n.*186C>G) c.*194C>G (n.*194C>G) c.*1908C>G (n.*1908C>G) c.3527C>G (p.Ser1176Ter) c.*3357C>G (n.*3357C>G) c.3107C>G (p.Ser1036Ter) c.281C>G (p.Ser94Ter) c.1320C>G (n.1320C>G) c.115C>G c.1167+16C>G c.2315C>G (p.Ser772Ter) c.3443C>G (p.Ser1148Ter) c.358C>G c.3623C>G (p.Ser1208Ter) c.3290C>G (p.Ser1097Ter) | |
| 7 | g.117627586C>T | CA368996288 | CFTR | c.3517+16C>T (n.3517+16C>T) c.*3247C>T (n.*3247C>T) c.3350C>T (p.Ser1117Leu) c.3533C>T (p.Ser1178Leu) c.*186C>T (n.*186C>T) c.*194C>T (n.*194C>T) c.*1908C>T (n.*1908C>T) c.3527C>T (p.Ser1176Leu) c.*3357C>T (n.*3357C>T) c.3107C>T (p.Ser1036Leu) c.281C>T (p.Ser94Leu) c.1320C>T (n.1320C>T) c.115C>T c.1167+16C>T c.2315C>T (p.Ser772Leu) c.3443C>T (p.Ser1148Leu) c.358C>T c.3623C>T (p.Ser1208Leu) c.3290C>T (p.Ser1097Leu) | COSMIC |
| 7 | g.117627589_117627592del | CA327226 | CFTR | c.3517+19_3517+22del (n.3517+19_3517+22del) c.*3250_*3253del (n.*3250_*3253del) c.3353_3356del (p.Thr1118AsnfsTer12) c.3536_3539del (p.Thr1179AsnfsTer12) c.*189_*192del (n.*189_*192del) c.*197_*200del (n.*197_*200del) c.*1911_*1914del (n.*1911_*1914del) c.3530_3533del (p.Thr1177AsnfsTer12) c.*3360_*3363del (n.*3360_*3363del) c.3110_3113del (p.Thr1037AsnfsTer12) c.284_287del (p.Thr95AsnfsTer12) c.1323_1326del (n.1323_1326del) c.118_121del c.1167+19_1167+22del c.2318_2321del (p.Thr773AsnfsTer12) c.3446_3449del (p.Thr1149AsnfsTer12) c.361_364del c.3626_3629del (p.Thr1209AsnfsTer12) c.3293_3296del (p.Thr1098AsnfsTer12) | ClinVar dbSNP |