Lista patogennych mutacji CFTR powstała na podstawie bazy CFTR2 i została uzupełniona o dodatkowe dane zebrane w Polsce.
Uwaga! Lista ma charakter poglądowy i nie służy do leczenia, stawiania diagnozy czy dobierania leków.
| Nazwa mutacji | Nazwa wariantu cDNA | Nazwa wariantu białka | Inne nazwy mutacji | |
|---|---|---|---|---|
| 1078delT | c.948delT | p.Phe316LeufsX12 | ||
| 1119delA | c.987delA | p.Gly330GlufsX39 | ||
| 1138insG | c.1006_1007insG | p.Ile336SerfsX28 | ||
| 1154insTC | c.1021_1022dupTC | p.Phe342HisfsX28 | ||
| 1161delC | c.1029delC | p.Cys343X | ||
| 1213delT | c.1081delT | p.Trp361GlyfsX8 | ||
| 1248+1G->A | c.1116+1G>A | |||
| 1249-1G->A | c.1117-1G>A | |||
| 124del23bp | c.-9_14del23 | |||
| 1259insA | c.1130dupA | p.Gln378AlafsX4 | ||
| 1288insTA | c.1155_1156dupTA | p.Asn386IlefsX3 | ||
| 1341+1G->A | c.1209+1G>A | |||
| 1343delG | c.1211delG | p.Gly404AspfsX38 | ||
| 1429del7 | c.1301_1307delCACTTCT | p.Ser434LeufsX6 | ||
| 1461ins4 | c.1327_1330dupGATA | p.Ile444ArgfsX3 | ||
| 1471delA | c.1340delA | p.Lys447ArgfsX2 | ||
| 1497delGG | c.1365_1366delGG | p.Val456CysfsX25 | ||
| 1504delG | c.1373delG | p.Gly458AspfsX11 | ||
| 1525-1G->A | c.1393-1G>A | |||
| 1525-2A->G | c.1393-2A>G | |||
| 1548delG | c.1418delG | p.Gly473GlufsX54 | ||
| 1609delCA | c.1477_1478delCA | p.Gln493ValfsX10 | ||
| 1677delTA | c.1545_1546delTA | p.Tyr515X | ||
| 1716+1G->A | c.1584+1G>A | |||
| 1717-1G->A | c.1585-1G>A | |||
| 1717-8G->A | c.1585-8G>A | |||
| 1782delA | c.1650delA | p.Gly551ValfsX8 | ||
| 1802delC | c.1670delC | p.Ser557PhefsX2 | ||
| 1811+1634A->G or 1811+1.6kbA->G | c.1680-886A>G | |||
| 1811+1643G->T | c.1680-877G>T | |||
| 1811+1G->A | c.1679+1G>A | |||
| 1811+1G->C | c.1679+1G>C | |||
| 1812-1G->A | c.1680-1G>A | |||
| 1824delA | c.1692delA | p.Asp565MetfsX7 | ||
| 182delT | c.50delT | p.Phe17SerfsX8 | ||
| 1833delT | c.1703delT | p.Leu568CysfsX4 | ||
| 185+1G->T | c.53+1G>T | |||
| 1898+1G->A | c.1766+1G>A | |||
| 1898+1G->C | c.1766+1G>C | |||
| 1898+1G->T | c.1766+1G>T | |||
| 1898+3A->G | c.1766+3A>G | |||
| 1898+5G->T | c.1766+5G>T | |||
| 1924del7 | c.1792_1798delAAAACTA | p.Lys598GlyfsX11 | ||
| 2055del9->A | c.1923_1931del9insA | p.Ser641ArgfsX5 | ||
| 2075delA | c.1943delA | p.Asp648ValfsX15 | ||
| 2105-2117del13insAGAAA | c.1973_1985del13insAGAAA | p.Arg658LysfsX4 | ||
| 2118del4 | c.1986_1989delAACT | p.Thr663ArgfsX8 | ||
| 2143delT | c.2012delT | p.Leu671X | ||
| 2183AA->G | c.2051_2052delAAinsG | p.Lys684SerfsX38 | ||
| 2184delA | c.2052delA | p.Lys684AsnfsX38 | ||
| 2184insA | c.2052dupA | p.Gln685ThrfsX4 | ||
| 2185insC | c.2053dupC | p.Gln685ProfsX84 | ||
| 2307insA | c.2175dupA | p.Glu726ArgfsX4 | ||
| 2347delG | c.2215delG | p.Val739TyrfsX16 | ||
| 2372del8 | c.2241_2248delGATACTGC | p.Ile748SerfsX28 | ||
| 2556insAT | c.2423_2424dupAT | p.Ser809IlefsX13 | ||
| 2585delT | c.2453delT | p.Leu818TrpfsX3 | ||
| 2594delGT | c.2463_2464delTG | p.Ser821ArgfsX4 | ||
| 2622+1G->A | c.2490+1G>A | |||
| 2711delT | c.2583delT | p.Phe861LeufsX3 | ||
| 2721del11 | c.2589_2599delAATTTGGTGCT | p.Ile864SerfsX28 | ||
| 2732insA | c.2601dupA | p.Val868SerfsX28 | ||
| 2789+5G->A | c.2657+5G>A | |||
| 2790-1G->C | c.2658-1G>C | |||
| 2869insG | c.2737_2738insG | p.Tyr913X | ||
| 2896insAG | c.2763_2764dupAG | p.Val922GlufsX2 | ||
| 2942insT | c.2810dupT | p.Val938GlyfsX37 | ||
| 2957delT | c.2825delT | p.Ile942ThrfsX26 | ||
| 296+1G->A | c.164+1G>A | |||
| 296+1G->T | c.164+1G>T | |||
| 296+2T->C | c.164+2T>C | |||
| 296+3insT | c.164+3_164+4insT | |||
| 297-1G->A | c.165-1G>A | |||
| 2991del32 | c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC | p.Leu953PhefsX11 | ||
| 3007delG | c.2875delG | p.Ala959HisfsX9 | ||
| 3028delA | c.2896delA | p.Thr966ArgfsX2 | ||
| 306delTAGA | c.174_177delTAGA | p.Asp58GlufsX32 | ||
| 306insA | c.175dupA | p.Arg59LysfsX10 | ||
| 3120+1G->A | c.2988+1G>A | |||
| 3120G->A | c.2988G>A | |||
| 3121-1G->A | c.2989-1G>A | |||
| 3121-2A->G | c.2989-2A>G | |||
| 3121-977_3499+248del2515 | c.2989-977_3367+248del | |||
| 3132delTG | c.3002_3003delTG | p.Val1001AspfsX45 | ||
| 3143del9 | c.3011_3019delCTATAGCAG or c.3009_3017delAGCTATAGC | p.Ala1004_Ala1006del | ||
| 3171delC | c.3039delC | p.Tyr1014ThrfsX9 | ||
| 3171insC | c.3039dupC | p.Tyr1014LeufsX33 | ||
| 3271delGG | c.3139_3139+1delGG | p.Gly1047GlnfsX28 | ||
| 3272-26A->G | c.3140-26A>G | |||
| 3349insT | c.3217dupT | p.Tyr1073LeufsX3 | ||
| 3500-2A->G | c.3368-2A>G | |||
| 3600+2insT | c.3468+2dupT | |||
| 3600+5G->A | c.3468+5G>A | |||
| 3600G->A | c.3468G>A | |||
| 365-366insT | c.233dupT | p.Trp79LeufsX32 | ||
| 3659delC | c.3528delC | p.Lys1177SerfsX15 | ||
| 3667ins4 | c.3532_3535dupTCAA | p.Thr1179IlefsX17 | ||
| 3737delA | c.3605delA | p.Asp1202AlafsX9 | ||
| 3791delC | c.3659delC | p.Thr1220LysfsX8 | ||
| 3821delT | c.3691delT | p.Ser1231ProfsX4 | ||
| 3849+10kbC->T | c.3718-2477C>T | |||
| 3849+40A->G | c.3717+40A>G | |||
| 3849+4A->G | c.3717+4A>G | |||
| 3849+5G->A | c.3717+5G>A | |||
| 3849G->A | c.3717G>A | |||
| 3850-1G->A | c.3718-1G>A | |||
| 3850-3T->G | c.3718-3T>G | |||
| 3876delA | c.3744delA | p.Lys1250ArgfsX9 | ||
| 3878delG | c.3747delG | p.Lys1250ArgfsX9 | ||
| 3905insT | c.3773dupT | p.Leu1258PhefsX7 | ||
| 394delTT | c.262_263delTT | p.Leu88IlefsX22 | ||
| 4005+1G->A | c.3873+1G>A | |||
| 4005+2T->C | c.3873+2T>C | |||
| 4010del4 | c.3883_3886delATTT | p.Ile1295PhefsX32 | ||
| 4015delA | c.3883delA | p.Ile1295PhefsX33 | ||
| 4016insT | c.3889dupT | p.Ser1297PhefsX5 | ||
| 4022insT | c.3891dupT | p.Gly1298TrpfsX4 | ||
| 4040delA | c.3908delA | p.Asn1303ThrfsX25 | ||
| 405+1G->A | c.273+1G>A | |||
| 405+3A->C | c.273+3A>C | |||
| 406-1G->A | c.274-1G>A | |||
| 406-2A->G | c.274-2A>G | |||
| 4168delCTAAGCC | c.4036_4042del | p.Leu1346MetfsX6 | ||
| 4209TGTT->AA | c.4077_4080delTGTTinsAA | |||
| 4218insT | c.4086dupT | p.Lys1363X | ||
| 4259del5 | c.4127_4131delTGGAT | p.Leu1376SerfsX8 | ||
| 4279insA | c.4147dupA | p.Ile1383AsnfsX3 | ||
| 4326delTC | c.4197_4198delCT | p.Cys1400X | ||
| 4374+1G->A | c.4242+1G>A | |||
| 4374+1G->T | c.4242+1G>T | |||
| 4382delA | c.4251delA | p.Glu1418ArgfsX14 | ||
| 4428insGA | c.4300_4301dup | p.Ser1435GlyfsX14 | ||
| 442delA | c.310delA | p.Arg104GlufsX3 | ||
| 444delA | c.313delA | p.Ile105SerfsX2 | ||
| 457TAT->G | c.325_327delTATinsG | p.Tyr109GlyfsX4 | ||
| 541delC | c.409delC | p.Leu137SerfsX16 | ||
| 557delT | c.429delT | p.Phe143LeufsX10 | ||
| 574delA | c.442delA | p.Ile148LeufsX5 | ||
| 602del14 | c.470_483delTTAGTTTGATTTAT | p.Phe157X | ||
| 621+1G->T | c.489+1G>T | |||
| 663delT | c.531delT | p.Ile177MetfsX12 | ||
| 675del4 | c.543_546delTAGT | p.Leu183PhefsX5 | ||
| 711+1G->T | c.579+1G>T | |||
| 711+3A->G | c.579+3A>G | |||
| 711+5G->A | c.579+5G>A | |||
| 712-1G->T | c.580-1G>T | |||
| 849delG | c.717delG | p.Leu240X | ||
| 852del22 | c.722_743delGGAGAATGATGATGAAGTACAG | p.Gly241GlufsX13 | ||
| 935delA | c.803delA | p.Asn268IlefsX17 | ||
| 977insA | c.850dupA | p.Met284AsnfsX3 | ||
| 991del5 | c.861_865delCTTAA | p.Asn287LysfsX19 | ||
| A1006E | c.3017C>A | p.Ala1006Glu | ||
| A455E | c.1364C>A | p.Ala455Glu | ||
| A46D | c.137C>A | p.Ala46Asp | ||
| A559T | c.1675G>A | p.Ala559Thr | ||
| A561E | c.1682C>A | p.Ala561Glu | ||
| A613T | c.1837G>A | p.Ala613Thr | ||
| C276X | c.828C>A | p.Cys276X | ||
| C524X | c.1572C>A | p.Cys524X | ||
| CFTR50kbdel | c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del | |||
| CFTRdele1 | c.(?_1)_(53+1_54-1)del | p.Glu2GlyfsX17 | ||
| CFTRdele11 | c.(1584+1_1585-1)_(1679+1_1680-1)del | |||
| CFTRdele13,14a | c.(1766+1_1767-1)_(2619+1_2620-1)del | |||
| CFTRdele14b-17b | c.(2619+1_2620-1)_(3367+1_3368-1)del | |||
| CFTRdele16-17b | c.(2908+1_2909-1)_(3367+1_3368-1)del | |||
| CFTRdele17a,17b | c.(2988+1_2989-1)_(3367+1_3368-1)del | |||
| CFTRdele17a-18 | c.(2988+1_2989-1)_(3468+1_3469-1)del | |||
| CFTRdele18 | c.(3367+1+3368-1)_(3468+1_3469-1)del | |||
| CFTRdele19 | c.(3468+1_3469-1)_(3717+1_3718-1)del | |||
| CFTRdele19-21 | c.(3468+1_3469-1)_(3963+1_3964-1)del | |||
| CFTRdele2 | c.(53+1_54-1)_(164+1_165-1)del | |||
| CFTRdele2,3 | c.54-5940_273+10250del21kb | p.Ser18ArgfsX16 | dele2,3(21kb) | |
| CFTRdele21 | c.(3873+1_3874-1)_(3963+1_3964-1)del | |||
| CFTRdele22,23 | c.3964-78_4242+577del | |||
| CFTRdele22-24 | c.(3963+1_3964-1)_(*1_?)del | |||
| CFTRdele2-4 | c.(53+1_54-1)_(489+1_490-1)del | |||
| CFTRdele3-10,14b-16 | c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del | |||
| CFTRdele4-11 | c.(273+1_274-1)_(1679+1_1680-1)del | |||
| CFTRdele4-7 | c.(273+1_274-1)_(1116+1_1117-1)del | |||
| CFTRdup6b-10 | c.(743+1_744-1)_(1584+1_1585-1)dup | |||
| D110H | c.328G>C | p.Asp110His | ||
| D1152H | c.3454G>C | p.Asp1152His | ||
| D192G | c.575A>G | p.Asp192Gly | ||
| D513G | c.1538A>G | p.Asp513Gly | ||
| D979V | c.2936A>T | p.Asp979Val | ||
| E1104X | c.3310G>T | p.Glu1104X | ||
| E1371X | c.4111G>T | p.Glu1371X | ||
| E193K | c.577G>A | p.Glu193Lys | ||
| E193X | c.577G>T | p.Glu193X | ||
| E379X | c.1135G>T | p.Glu379X | ||
| E474K | c.1420G>A | p.Glu474Lys | ||
| E56K | c.166G>A | p.Glu56Lys | ||
| E585X | c.1753G>T | p.Glu585X | ||
| E60K | c.178G>A | p.Glu60Lys | ||
| E60X | c.178G>T | p.Glu60X | ||
| E656X | c.1966G>T | p.Glu656X | ||
| E664X | c.1990G>T | p.Glu664X | ||
| E822X | c.2464G>T | p.Glu822X | ||
| E831X | c.2491G>T | p.Glu831X | ||
| E92K | c.274G>A | p.Glu92Lys | ||
| E92X | c.274G>T | p.Glu92X | ||
| F191V | c.571T>G | p.Phe191Val | ||
| F311L | c.933C>G | p.Phe311Leu | ||
| F508C;S1251N | c.[1523T>G;3752G>A] | p.[Phe508Cys;Ser1251Asn] | ||
| F508del | c.1521_1523delCTT | p.Phe508del | ΔF508, delta F508, 1653delCTT, f508∆ | |
| F508del;I1027T | c.[1521_1523delCTT;3080T>C] | p.[Phe508del;Ile1027Thr] | ||
| G1061R | c.3181G>C | p.Gly1061Arg | ||
| G1244E | c.3731G>A | p.Gly1244Glu | ||
| G1249R | c.3745G>A | p.Gly1249Arg | ||
| G126D | c.377G>A | p.Gly126D | ||
| G1349D | c.4046G>A | p.Gly1349Asp | ||
| G178R | c.532G>A | p.Gly178Arg | ||
| G194R | c.580G>A | p.Gly194Arg | ||
| G27R | c.79G>A | p.Gly27Arg | ||
| G27X | c.79G>T | p.Gly27X | ||
| G330X | c.988G>T | p.Gly330X | ||
| G542X | c.1624G>T | p.Gly542X | ||
| G550X | c.1648G>T | p.Gly550X | ||
| G551D | c.1652G>A | p.Gly551Asp | ||
| G551S | c.1651G>A | p.Gly551Ser | ||
| G628R | c.1882G>C or c.1882G>A | p.Gly628Arg | ||
| G673X | c.2017G>T | p.Gly673X | ||
| G745X | c.2233G>T | p.Gly745X | ||
| G85E | c.254G>A | p.Gly85Glu | ||
| G91R | c.271G>A | p.Gly91Arg | ||
| G970D | c.2909G>A | p.Gly970Asp | ||
| G970R | c.2908G>C | p.Gly970Arg | ||
| H1054D | c.3160C>G | p.His1054Asp | ||
| H1375P | c.4124A>C | p.His1375Pro | ||
| H139R | c.416A>G | p.His139Arg | ||
| H199Y | c.595C>T | p.His199Tyr | ||
| H609R | c.1826A>G | p.His609Arg | ||
| I1234V | c.3700A>G | p.Ile1234Val | ||
| I1269N | c.3806T>A | p.Ile1269Asn | ||
| I1366N | c.4097T>A | p.Ile1366Asn | ||
| I336K | c.1007T>A | p.Ile336Lys | ||
| I502T | c.1505T>C | p.Ile502Thr | ||
| I507del | c.1519_1521delATC | p.Ile507del | ||
| I601F | c.1801A>T | p.Ile601Phe | ||
| K710X | c.2128A>T | p.Lys710X | ||
| L102R | c.305T>G | p.Leu102Arg | ||
| L1065P | c.3194T>C | p.Leu1065Pro | ||
| L1077P | c.3230T>C | p.Leu1077Pro | ||
| L1254X | c.3761T>G | p.Leu1254X | ||
| L1324P | c.3971T>C | p.Leu1324Pro | ||
| L1335P | c.4004T>C | p.Leu1335Pro | ||
| L138ins | c.413_415dupTAC | p.Leu138dup | ||
| L15P | c.44T>C | p.Leu15Pro | ||
| L165S | c.494T>C | p.Leu165Ser | ||
| L206W | c.617T>G | p.Leu206Trp | ||
| L227R | c.680T>G | p.Leu227Arg | ||
| L346P | c.1037T>C | p.Leu346Pro | ||
| L453S | c.1358T>C | p.Leu453Ser | ||
| L467P | c.1400T>C | p.Leu467Pro | ||
| L558S | c.1673T>C | p.Leu558Ser | ||
| L732X | c.2195T>G | p.Leu732X | ||
| L88X | c.263T>A or c.263T>G | p.Leu88X | ||
| L927P | c.2780T>C | p.Leu927Pro | ||
| M1101K | c.3302T>A | p.Met1101Lys | ||
| M1101R | c.3302T>G | p.Met1101Arg | ||
| M1V | c.1A>G | p.Met1Val | ||
| N1303K | c.3909C>G | p.Asn1303Lys | ||
| P205S | c.613C>T | p.Pro205Ser | ||
| P574H | c.1721C>A | p.Pro574His | ||
| P67L | c.200C>T | p.Pro67Leu | ||
| P99L | c.296C>T | p.Pro99Leu | ||
| Q1042X | c.3124C>T | p.Gln1042X | ||
| Q1313X | c.3937C>T | p.Gln1313X | ||
| Q1330X | c.3988C>T | p.Gln1330X | ||
| Q1382X | c.4144C>T | p.Gln1382X | ||
| Q1411X | c.4231C>T | p.Gln1411X | ||
| Q1412X | c.4234C>T | p.Gln1412X | ||
| Q220X | c.658C>T | p.Gln220X | ||
| Q2X | c.4C>T | p.Gln2X | ||
| Q30X | c.88C>T | p.Gln30X | ||
| Q359K/T360K | c.[1075C>A;1079C>A] | p.[Gln359Lys;Thr360Lys] | ||
| Q39X | c.115C>T | p.Gln39X | ||
| Q414X | c.1240C>T | p.Gln414X | ||
| Q493X | c.1477C>T | p.Gln493X | ||
| Q525X | c.1573C>T | p.Gln525X | ||
| Q552X | c.1654C>T | p.Gln552X | ||
| Q685X | c.2053C>T | p.Gln685X | ||
| Q715X | c.2143C>T | p.Gln715X | ||
| Q720X | c.2158C>T | p.Gln720X | ||
| Q890X | c.2668C>T | p.Gln890X | ||
| Q98R | c.293A>G | p.Gln98Arg | ||
| Q98X | c.292C>T | p.Gln98X | ||
| R1066C | c.3196C>T | p.Arg1066Cys | ||
| R1066H | c.3197G>A | p.Arg1066His | ||
| R1102X | c.3304A>T | p.Arg1102X | ||
| R1158X | c.3472C>T | p.Arg1158X | ||
| R1162X | c.3484C>T | p.Arg1162X | ||
| R117C | c.349C>T | p.Arg117Cys | ||
| R117H;5T | c.[350G>A;1210−12T[5]] | p[.Arg117His;] | ||
| R117P | c.350G>C | p.Arg117Pro | ||
| R1283M | c.3848G>T | p.Arg1283Met | ||
| R334L | c.1001G>T | p.Arg334Leu | ||
| R334W | c.1000C>T | p.Arg334Trp | ||
| R347H | c.1040G>A | p.Arg347His | ||
| R347P | c.1040G>C | p.Arg347Pro | ||
| R352Q | c.1055G>A | p.Arg352Gln | ||
| R553X | c.1657C>T | p.Arg553X | ||
| R560K | c.1679G>A | p.Arg560Lys | ||
| R560S | c.1680A>C | p.Arg560Ser | ||
| R560T | c.1679G>C | p.Arg560Thr | ||
| R709X | c.2125C>T | p.Arg709X | ||
| R75X | c.223C>T | p.Arg75X | ||
| R764X | c.2290C>T | p.Arg764X | ||
| R785X | c.2353C>T | p.Arg785X | ||
| R792X | c.2374C>T | p.Arg792X | ||
| R851X | c.2551C>T | p.Arg851X | ||
| S1118F | c.3353C>T | p.Ser1118Phe | ||
| S1159F | c.3476C>T | p.Ser1159Phe | ||
| S1159P | c.3475T>C | p.Ser1159Pro | ||
| S1196X | c.3587C>G | p.Ser1196X | ||
| S1251N | c.3752G>A | p.Ser1251Asn | ||
| S1255P | c.3763T>C | p.Ser1255Pro | ||
| S1255X | c.3764C>A | p.Ser1255X | ||
| S13F | c.38C>T | p.Ser13Phe | ||
| S341P | c.1021T>C | p.Ser341Pro | ||
| S434X | c.1301C>A or c.1301C>G | p.Ser434X | ||
| S466X | c.1397C>A or c.1397C>G | p.Ser466X | ||
| S466X;R1070Q | c.[1397C>G;3209G>A] | p.[Ser466X;Arg1070Gln] | ||
| S489X | c.1466C>A | p.Ser489X | ||
| S492F | c.1475C>T | p.Ser492Phe | ||
| S4X | c.11C>A | p.Ser4X | ||
| S549N | c.1646G>A | p.Ser549Asn | ||
| S549R | c.1645A>C or c.1647T>G or c.1647T>A | p.Ser549Arg | ||
| S912X | c.2735C>A | p.Ser912X | ||
| S945L | c.2834C>T | p.Ser945Leu | ||
| T1036N | c.3107C>A | p.Thr1036Asn | ||
| T338I | c.1013C>T | p.Thr338Ile | ||
| V1240G | c.3719T>G | p.Val1240Gly | ||
| V232D | c.695T>A | p.Val232Asp | ||
| V456A | c.1367T>C | p.Val456Ala | ||
| V520F | c.1558G>T | p.Val520Phe | ||
| W1089X | c.3266G>A | p.Trp1089X | ||
| W1098C | c.3294G>C or c.3294G>T | p.Trp1098Cys | ||
| W1098R | c.3292T>C | p.Trp1098Arg | ||
| W1098X | c.3293G>A or c.3294G>A | p.Trp1098X | ||
| W1145X | c.3435G>A | p.Trp1145X | ||
| W1204X | c.3611G>A or c.3612G>A | p.Trp1204X | ||
| W1282X | c.3846G>A | p.Trp1282X | ||
| W1282X;R1283M | c.[3846G>A;3848G>T] | p.[Trp1282X;Arg1283Met] | ||
| W19X | c.57G>A | p.Trp19X | ||
| W216X | c.647G>A | p.Trp216X | ||
| W401X | c.1202G>A or c.1203G>A | p.Trp401X | ||
| W496X | c.1487G>A | p.Trp496X | ||
| W57G | c.169T>G | p.Trp57Gly | ||
| W57X | c.170G>A or c.171G>A | p.Trp57X | ||
| W846X | c.2537G>A or c.2538G>A | p.Trp846X | ||
| W882X | c.2645G>A | p.Trp882X | ||
| Y1092X | c.3276C>A or c.3276C>G | p.Tyr1092X | ||
| Y122X | c.366T>A | p.Tyr122X | ||
| Y161D | c.481T>G | p.Tyr161Asp | ||
| Y275X | c.825C>G | p.Tyr275X | ||
| Y563D | c.1687T>G | p.Tyr563Asp | ||
| Y563N | c.1687T>A | p.Tyr563Asn | ||
| Y569D | c.1705T>G | p.Tyr569Asp | ||
| Y849X | c.2547C>A | p.Tyr849X | ||
| Y913X | c.2739T>A | p.Tyr913X |
Dane źródłowe:
- Baza CFTR2 https://cftr2.org/
- Dane Fundacji Oddech Życia
