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.117627682T>A | CA327245 | CFTR | c.3517+112T>A (n.3517+112T>A) c.*3343T>A (n.*3343T>A) c.3446T>A (p.Met1149Lys) c.3629T>A (p.Met1210Lys) c.*282T>A (n.*282T>A) c.*290T>A (n.*290T>A) c.*2004T>A (n.*2004T>A) c.3623T>A (p.Met1208Lys) c.*3453T>A (n.*3453T>A) c.3203T>A (p.Met1068Lys) c.377T>A (p.Met126Lys) c.1416T>A (n.1416T>A) c.211T>A c.1167+112T>A c.2411T>A (p.Met804Lys) c.3539T>A (p.Met1180Lys) c.454T>A c.3719T>A (p.Met1240Lys) c.3386T>A (p.Met1129Lys) | dbSNP |
| 7 | g.117627682T>C | CA368997253 | CFTR | c.3517+112T>C (n.3517+112T>C) c.*3343T>C (n.*3343T>C) c.3446T>C (p.Met1149Thr) c.3629T>C (p.Met1210Thr) c.*282T>C (n.*282T>C) c.*290T>C (n.*290T>C) c.*2004T>C (n.*2004T>C) c.3623T>C (p.Met1208Thr) c.*3453T>C (n.*3453T>C) c.3203T>C (p.Met1068Thr) c.377T>C (p.Met126Thr) c.1416T>C (n.1416T>C) c.211T>C c.1167+112T>C c.2411T>C (p.Met804Thr) c.3539T>C (p.Met1180Thr) c.454T>C c.3719T>C (p.Met1240Thr) c.3386T>C (p.Met1129Thr) | |
| 7 | g.117627682T>G | CA368997255 | CFTR | c.3517+112T>G (n.3517+112T>G) c.*3343T>G (n.*3343T>G) c.3446T>G (p.Met1149Arg) c.3629T>G (p.Met1210Arg) c.*282T>G (n.*282T>G) c.*290T>G (n.*290T>G) c.*2004T>G (n.*2004T>G) c.3623T>G (p.Met1208Arg) c.*3453T>G (n.*3453T>G) c.3203T>G (p.Met1068Arg) c.377T>G (p.Met126Arg) c.1416T>G (n.1416T>G) c.211T>G c.1167+112T>G c.2411T>G (p.Met804Arg) c.3539T>G (p.Met1180Arg) c.454T>G c.3719T>G (p.Met1240Arg) c.3386T>G (p.Met1129Arg) | |
| 7 | g.117627682T= | CA1737398693 | CFTR | c.3517+112T= (n.3517+112T=) c.*3343T= (n.*3343T=) c.3446T= (p.Met1149=) c.3629T= (p.Met1210=) c.*282T= (n.*282T=) c.*290T= (n.*290T=) c.*2004T= (n.*2004T=) c.3623T= (p.Met1208=) c.*3453T= (n.*3453T=) c.3203T= (p.Met1068=) c.377T= (p.Met126=) c.1416T= (n.1416T=) c.211T= c.1167+112T= c.2411T= (p.Met804=) c.3539T= (p.Met1180=) c.454T= c.3719T= (p.Met1240=) c.3386T= (p.Met1129=) | |
| 7 | g.117627683G>A | CA368997257 | CFTR | c.3517+113G>A (n.3517+113G>A) c.*3344G>A (n.*3344G>A) c.3447G>A (p.Met1149Ile) c.3630G>A (p.Met1210Ile) c.*283G>A (n.*283G>A) c.*291G>A (n.*291G>A) c.*2005G>A (n.*2005G>A) c.3624G>A (p.Met1208Ile) c.*3454G>A (n.*3454G>A) c.3204G>A (p.Met1068Ile) c.378G>A (p.Met126Ile) c.1417G>A (n.1417G>A) c.212G>A c.1167+113G>A c.2412G>A (p.Met804Ile) c.3540G>A (p.Met1180Ile) c.455G>A c.3720G>A (p.Met1240Ile) c.3387G>A (p.Met1129Ile) | |
| 7 | g.117627683G>C | CA368997259 | CFTR | c.3517+113G>C (n.3517+113G>C) c.*3344G>C (n.*3344G>C) c.3447G>C (p.Met1149Ile) c.3630G>C (p.Met1210Ile) c.*283G>C (n.*283G>C) c.*291G>C (n.*291G>C) c.*2005G>C (n.*2005G>C) c.3624G>C (p.Met1208Ile) c.*3454G>C (n.*3454G>C) c.3204G>C (p.Met1068Ile) c.378G>C (p.Met126Ile) c.1417G>C (n.1417G>C) c.212G>C c.1167+113G>C c.2412G>C (p.Met804Ile) c.3540G>C (p.Met1180Ile) c.455G>C c.3720G>C (p.Met1240Ile) c.3387G>C (p.Met1129Ile) | |
| 7 | g.117627683G>T | CA368997261 | CFTR | c.3517+113G>T (n.3517+113G>T) c.*3344G>T (n.*3344G>T) c.3447G>T (p.Met1149Ile) c.3630G>T (p.Met1210Ile) c.*283G>T (n.*283G>T) c.*291G>T (n.*291G>T) c.*2005G>T (n.*2005G>T) c.3624G>T (p.Met1208Ile) c.*3454G>T (n.*3454G>T) c.3204G>T (p.Met1068Ile) c.378G>T (p.Met126Ile) c.1417G>T (n.1417G>T) c.212G>T c.1167+113G>T c.2412G>T (p.Met804Ile) c.3540G>T (p.Met1180Ile) c.455G>T c.3720G>T (p.Met1240Ile) c.3387G>T (p.Met1129Ile) | gnomAD v4 |
| 7 | g.117627684A>C | CA368997263 | CFTR | c.3517+114A>C (n.3517+114A>C) c.*3345A>C (n.*3345A>C) c.3448A>C (p.Thr1150Pro) c.3631A>C (p.Thr1211Pro) c.*284A>C (n.*284A>C) c.*292A>C (n.*292A>C) c.*2006A>C (n.*2006A>C) c.3625A>C (p.Thr1209Pro) c.*3455A>C (n.*3455A>C) c.3205A>C (p.Thr1069Pro) c.379A>C (p.Thr127Pro) c.1418A>C (n.1418A>C) c.213A>C c.1167+114A>C c.2413A>C (p.Thr805Pro) c.3541A>C (p.Thr1181Pro) c.456A>C c.3721A>C (p.Thr1241Pro) c.3388A>C (p.Thr1130Pro) | |
| 7 | g.117627684A>G | CA368997265 | CFTR | c.3517+114A>G (n.3517+114A>G) c.*3345A>G (n.*3345A>G) c.3448A>G (p.Thr1150Ala) c.3631A>G (p.Thr1211Ala) c.*284A>G (n.*284A>G) c.*292A>G (n.*292A>G) c.*2006A>G (n.*2006A>G) c.3625A>G (p.Thr1209Ala) c.*3455A>G (n.*3455A>G) c.3205A>G (p.Thr1069Ala) c.379A>G (p.Thr127Ala) c.1418A>G (n.1418A>G) c.213A>G c.1167+114A>G c.2413A>G (p.Thr805Ala) c.3541A>G (p.Thr1181Ala) c.456A>G c.3721A>G (p.Thr1241Ala) c.3388A>G (p.Thr1130Ala) | |
| 7 | g.117627684A>T | CA368997267 | CFTR | c.3517+114A>T (n.3517+114A>T) c.*3345A>T (n.*3345A>T) c.3448A>T (p.Thr1150Ser) c.3631A>T (p.Thr1211Ser) c.*284A>T (n.*284A>T) c.*292A>T (n.*292A>T) c.*2006A>T (n.*2006A>T) c.3625A>T (p.Thr1209Ser) c.*3455A>T (n.*3455A>T) c.3205A>T (p.Thr1069Ser) c.379A>T (p.Thr127Ser) c.1418A>T (n.1418A>T) c.213A>T c.1167+114A>T c.2413A>T (p.Thr805Ser) c.3541A>T (p.Thr1181Ser) c.456A>T c.3721A>T (p.Thr1241Ser) c.3388A>T (p.Thr1130Ser) | |
| 7 | g.117627685C>A | CA368997271 | CFTR | c.3517+115C>A (n.3517+115C>A) c.*3346C>A (n.*3346C>A) c.3449C>A (p.Thr1150Asn) c.3632C>A (p.Thr1211Asn) c.*285C>A (n.*285C>A) c.*293C>A (n.*293C>A) c.*2007C>A (n.*2007C>A) c.3626C>A (p.Thr1209Asn) c.*3456C>A (n.*3456C>A) c.3206C>A (p.Thr1069Asn) c.380C>A (p.Thr127Asn) c.1419C>A (n.1419C>A) c.214C>A c.1167+115C>A c.2414C>A (p.Thr805Asn) c.3542C>A (p.Thr1181Asn) c.457C>A c.3722C>A (p.Thr1241Asn) c.3389C>A (p.Thr1130Asn) | |
| 7 | g.117627685C>G | CA368997268 | CFTR | c.3517+115C>G (n.3517+115C>G) c.*3346C>G (n.*3346C>G) c.3449C>G (p.Thr1150Ser) c.3632C>G (p.Thr1211Ser) c.*285C>G (n.*285C>G) c.*293C>G (n.*293C>G) c.*2007C>G (n.*2007C>G) c.3626C>G (p.Thr1209Ser) c.*3456C>G (n.*3456C>G) c.3206C>G (p.Thr1069Ser) c.380C>G (p.Thr127Ser) c.1419C>G (n.1419C>G) c.214C>G c.1167+115C>G c.2414C>G (p.Thr805Ser) c.3542C>G (p.Thr1181Ser) c.457C>G c.3722C>G (p.Thr1241Ser) c.3389C>G (p.Thr1130Ser) | |
| 7 | g.117627685C>T | CA368997269 | CFTR | c.3517+115C>T (n.3517+115C>T) c.*3346C>T (n.*3346C>T) c.3449C>T (p.Thr1150Ile) c.3632C>T (p.Thr1211Ile) c.*285C>T (n.*285C>T) c.*293C>T (n.*293C>T) c.*2007C>T (n.*2007C>T) c.3626C>T (p.Thr1209Ile) c.*3456C>T (n.*3456C>T) c.3206C>T (p.Thr1069Ile) c.380C>T (p.Thr127Ile) c.1419C>T (n.1419C>T) c.214C>T c.1167+115C>T c.2414C>T (p.Thr805Ile) c.3542C>T (p.Thr1181Ile) c.457C>T c.3722C>T (p.Thr1241Ile) c.3389C>T (p.Thr1130Ile) | |
| 7 | g.117627686T>A | CA457231437 | CFTR | c.3517+116T>A (n.3517+116T>A) c.*3347T>A (n.*3347T>A) c.3450T>A (p.Thr1150=) c.3633T>A (p.Thr1211=) c.*286T>A (n.*286T>A) c.*294T>A (n.*294T>A) c.*2008T>A (n.*2008T>A) c.3627T>A (p.Thr1209=) c.*3457T>A (n.*3457T>A) c.3207T>A (p.Thr1069=) c.381T>A (p.Thr127=) c.1420T>A (n.1420T>A) c.215T>A c.1167+116T>A c.2415T>A (p.Thr805=) c.3543T>A (p.Thr1181=) c.458T>A c.3723T>A (p.Thr1241=) c.3390T>A (p.Thr1130=) | |
| 7 | g.117627686T>C | CA457231435 | CFTR | c.3517+116T>C (n.3517+116T>C) c.*3347T>C (n.*3347T>C) c.3450T>C (p.Thr1150=) c.3633T>C (p.Thr1211=) c.*286T>C (n.*286T>C) c.*294T>C (n.*294T>C) c.*2008T>C (n.*2008T>C) c.3627T>C (p.Thr1209=) c.*3457T>C (n.*3457T>C) c.3207T>C (p.Thr1069=) c.381T>C (p.Thr127=) c.1420T>C (n.1420T>C) c.215T>C c.1167+116T>C c.2415T>C (p.Thr805=) c.3543T>C (p.Thr1181=) c.458T>C c.3723T>C (p.Thr1241=) c.3390T>C (p.Thr1130=) | |
| 7 | g.117627686T>G | CA457231436 | CFTR | c.3517+116T>G (n.3517+116T>G) c.*3347T>G (n.*3347T>G) c.3450T>G (p.Thr1150=) c.3633T>G (p.Thr1211=) c.*286T>G (n.*286T>G) c.*294T>G (n.*294T>G) c.*2008T>G (n.*2008T>G) c.3627T>G (p.Thr1209=) c.*3457T>G (n.*3457T>G) c.3207T>G (p.Thr1069=) c.381T>G (p.Thr127=) c.1420T>G (n.1420T>G) c.215T>G c.1167+116T>G c.2415T>G (p.Thr805=) c.3543T>G (p.Thr1181=) c.458T>G c.3723T>G (p.Thr1241=) c.3390T>G (p.Thr1130=) | |
| 7 | g.117627687G>A | CA327247 | CFTR | c.3517+117G>A (n.3517+117G>A) c.*3348G>A (n.*3348G>A) c.3451G>A (p.Val1151Ile) c.3634G>A (p.Val1212Ile) c.*287G>A (n.*287G>A) c.*295G>A (n.*295G>A) c.*2009G>A (n.*2009G>A) c.3628G>A (p.Val1210Ile) c.*3458G>A (n.*3458G>A) c.3208G>A (p.Val1070Ile) c.382G>A (p.Val128Ile) c.1421G>A (n.1421G>A) c.216G>A c.1167+117G>A c.2416G>A (p.Val806Ile) c.3544G>A (p.Val1182Ile) c.459G>A c.3724G>A (p.Val1242Ile) c.3391G>A (p.Val1131Ile) | dbSNP |
| 7 | g.117627687G>C | CA368997274 | CFTR | c.3517+117G>C (n.3517+117G>C) c.*3348G>C (n.*3348G>C) c.3451G>C (p.Val1151Leu) c.3634G>C (p.Val1212Leu) c.*287G>C (n.*287G>C) c.*295G>C (n.*295G>C) c.*2009G>C (n.*2009G>C) c.3628G>C (p.Val1210Leu) c.*3458G>C (n.*3458G>C) c.3208G>C (p.Val1070Leu) c.382G>C (p.Val128Leu) c.1421G>C (n.1421G>C) c.216G>C c.1167+117G>C c.2416G>C (p.Val806Leu) c.3544G>C (p.Val1182Leu) c.459G>C c.3724G>C (p.Val1242Leu) c.3391G>C (p.Val1131Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627687G= | CA1737398694 | CFTR | c.3517+117G= (n.3517+117G=) c.*3348G= (n.*3348G=) c.3451G= (p.Val1151=) c.3634G= (p.Val1212=) c.*287G= (n.*287G=) c.*295G= (n.*295G=) c.*2009G= (n.*2009G=) c.3628G= (p.Val1210=) c.*3458G= (n.*3458G=) c.3208G= (p.Val1070=) c.382G= (p.Val128=) c.1421G= (n.1421G=) c.216G= c.1167+117G= c.2416G= (p.Val806=) c.3544G= (p.Val1182=) c.459G= c.3724G= (p.Val1242=) c.3391G= (p.Val1131=) | |
| 7 | g.117627687G>T | CA368997275 | CFTR | c.3517+117G>T (n.3517+117G>T) c.*3348G>T (n.*3348G>T) c.3451G>T (p.Val1151Phe) c.3634G>T (p.Val1212Phe) c.*287G>T (n.*287G>T) c.*295G>T (n.*295G>T) c.*2009G>T (n.*2009G>T) c.3628G>T (p.Val1210Phe) c.*3458G>T (n.*3458G>T) c.3208G>T (p.Val1070Phe) c.382G>T (p.Val128Phe) c.1421G>T (n.1421G>T) c.216G>T c.1167+117G>T c.2416G>T (p.Val806Phe) c.3544G>T (p.Val1182Phe) c.459G>T c.3724G>T (p.Val1242Phe) c.3391G>T (p.Val1131Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627688del | CA2695208379 | CFTR | c.3517+118del (n.3517+118del) c.*3349del (n.*3349del) c.3452del (p.Val1151AlafsTer16) c.3635del (p.Val1212AlafsTer16) c.*288del (n.*288del) c.*296del (n.*296del) c.*2010del (n.*2010del) c.3629del (p.Val1210AlafsTer16) c.*3459del (n.*3459del) c.3209del (p.Val1070AlafsTer16) c.383del (p.Val128AlafsTer16) c.1422del (n.1422del) c.217del c.1167+118del c.2417del (p.Val806AlafsTer16) c.3545del (p.Val1182AlafsTer16) c.460del c.3725del (p.Val1242AlafsTer16) c.3392del (p.Val1131AlafsTer16) | |
| 7 | g.117627688T>A | CA368997277 | CFTR | c.3517+118T>A (n.3517+118T>A) c.*3349T>A (n.*3349T>A) c.3452T>A (p.Val1151Asp) c.3635T>A (p.Val1212Asp) c.*288T>A (n.*288T>A) c.*296T>A (n.*296T>A) c.*2010T>A (n.*2010T>A) c.3629T>A (p.Val1210Asp) c.*3459T>A (n.*3459T>A) c.3209T>A (p.Val1070Asp) c.383T>A (p.Val128Asp) c.1422T>A (n.1422T>A) c.217T>A c.1167+118T>A c.2417T>A (p.Val806Asp) c.3545T>A (p.Val1182Asp) c.460T>A c.3725T>A (p.Val1242Asp) c.3392T>A (p.Val1131Asp) | |
| 7 | g.117627688T>C | CA368997278 | CFTR | c.3517+118T>C (n.3517+118T>C) c.*3349T>C (n.*3349T>C) c.3452T>C (p.Val1151Ala) c.3635T>C (p.Val1212Ala) c.*288T>C (n.*288T>C) c.*296T>C (n.*296T>C) c.*2010T>C (n.*2010T>C) c.3629T>C (p.Val1210Ala) c.*3459T>C (n.*3459T>C) c.3209T>C (p.Val1070Ala) c.383T>C (p.Val128Ala) c.1422T>C (n.1422T>C) c.217T>C c.1167+118T>C c.2417T>C (p.Val806Ala) c.3545T>C (p.Val1182Ala) c.460T>C c.3725T>C (p.Val1242Ala) c.3392T>C (p.Val1131Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627688T>G | CA368997280 | CFTR | c.3517+118T>G (n.3517+118T>G) c.*3349T>G (n.*3349T>G) c.3452T>G (p.Val1151Gly) c.3635T>G (p.Val1212Gly) c.*288T>G (n.*288T>G) c.*296T>G (n.*296T>G) c.*2010T>G (n.*2010T>G) c.3629T>G (p.Val1210Gly) c.*3459T>G (n.*3459T>G) c.3209T>G (p.Val1070Gly) c.383T>G (p.Val128Gly) c.1422T>G (n.1422T>G) c.217T>G c.1167+118T>G c.2417T>G (p.Val806Gly) c.3545T>G (p.Val1182Gly) c.460T>G c.3725T>G (p.Val1242Gly) c.3392T>G (p.Val1131Gly) | |
| 7 | g.117627688T= | CA1737398695 | CFTR | c.3517+118T= (n.3517+118T=) c.*3349T= (n.*3349T=) c.3452T= (p.Val1151=) c.3635T= (p.Val1212=) c.*288T= (n.*288T=) c.*296T= (n.*296T=) c.*2010T= (n.*2010T=) c.3629T= (p.Val1210=) c.*3459T= (n.*3459T=) c.3209T= (p.Val1070=) c.383T= (p.Val128=) c.1422T= (n.1422T=) c.217T= c.1167+118T= c.2417T= (p.Val806=) c.3545T= (p.Val1182=) c.460T= c.3725T= (p.Val1242=) c.3392T= (p.Val1131=) | |
| 7 | g.117627689C>A | CA457231440 | CFTR | c.3517+119C>A (n.3517+119C>A) c.*3350C>A (n.*3350C>A) c.3453C>A (p.Val1151=) c.3636C>A (p.Val1212=) c.*289C>A (n.*289C>A) c.*297C>A (n.*297C>A) c.*2011C>A (n.*2011C>A) c.3630C>A (p.Val1210=) c.*3460C>A (n.*3460C>A) c.3210C>A (p.Val1070=) c.384C>A (p.Val128=) c.1423C>A (n.1423C>A) c.218C>A c.1167+119C>A c.2418C>A (p.Val806=) c.3546C>A (p.Val1182=) c.461C>A c.3726C>A (p.Val1242=) c.3393C>A (p.Val1131=) | |
| 7 | g.117627689C>G | CA457231439 | CFTR | c.3517+119C>G (n.3517+119C>G) c.*3350C>G (n.*3350C>G) c.3453C>G (p.Val1151=) c.3636C>G (p.Val1212=) c.*289C>G (n.*289C>G) c.*297C>G (n.*297C>G) c.*2011C>G (n.*2011C>G) c.3630C>G (p.Val1210=) c.*3460C>G (n.*3460C>G) c.3210C>G (p.Val1070=) c.384C>G (p.Val128=) c.1423C>G (n.1423C>G) c.218C>G c.1167+119C>G c.2418C>G (p.Val806=) c.3546C>G (p.Val1182=) c.461C>G c.3726C>G (p.Val1242=) c.3393C>G (p.Val1131=) | ClinVar |
| 7 | g.117627689C>T | CA457231438 | CFTR | c.3517+119C>T (n.3517+119C>T) c.*3350C>T (n.*3350C>T) c.3453C>T (p.Val1151=) c.3636C>T (p.Val1212=) c.*289C>T (n.*289C>T) c.*297C>T (n.*297C>T) c.*2011C>T (n.*2011C>T) c.3630C>T (p.Val1210=) c.*3460C>T (n.*3460C>T) c.3210C>T (p.Val1070=) c.384C>T (p.Val128=) c.1423C>T (n.1423C>T) c.218C>T c.1167+119C>T c.2418C>T (p.Val806=) c.3546C>T (p.Val1182=) c.461C>T c.3726C>T (p.Val1242=) c.3393C>T (p.Val1131=) | gnomAD v4 |
| 7 | g.117627690A= | CA1737398696 | CFTR | c.3517+120A= (n.3517+120A=) c.*3351A= (n.*3351A=) c.3454A= (p.Lys1152=) c.3637A= (p.Lys1213=) c.*290A= (n.*290A=) c.*298A= (n.*298A=) c.*2012A= (n.*2012A=) c.3631A= (p.Lys1211=) c.*3461A= (n.*3461A=) c.3211A= (p.Lys1071=) c.385A= (p.Lys129=) c.1424A= (n.1424A=) c.219A= c.1167+120A= c.2419A= (p.Lys807=) c.3547A= (p.Lys1183=) c.462A= c.3727A= (p.Lys1243=) c.3394A= (p.Lys1132=) | |
| 7 | g.117627690A>C | CA368997286 | CFTR | c.3517+120A>C (n.3517+120A>C) c.*3351A>C (n.*3351A>C) c.3454A>C (p.Lys1152Gln) c.3637A>C (p.Lys1213Gln) c.*290A>C (n.*290A>C) c.*298A>C (n.*298A>C) c.*2012A>C (n.*2012A>C) c.3631A>C (p.Lys1211Gln) c.*3461A>C (n.*3461A>C) c.3211A>C (p.Lys1071Gln) c.385A>C (p.Lys129Gln) c.1424A>C (n.1424A>C) c.219A>C c.1167+120A>C c.2419A>C (p.Lys807Gln) c.3547A>C (p.Lys1183Gln) c.462A>C c.3727A>C (p.Lys1243Gln) c.3394A>C (p.Lys1132Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627690A>G | CA368997282 | CFTR | c.3517+120A>G (n.3517+120A>G) c.*3351A>G (n.*3351A>G) c.3454A>G (p.Lys1152Glu) c.3637A>G (p.Lys1213Glu) c.*290A>G (n.*290A>G) c.*298A>G (n.*298A>G) c.*2012A>G (n.*2012A>G) c.3631A>G (p.Lys1211Glu) c.*3461A>G (n.*3461A>G) c.3211A>G (p.Lys1071Glu) c.385A>G (p.Lys129Glu) c.1424A>G (n.1424A>G) c.219A>G c.1167+120A>G c.2419A>G (p.Lys807Glu) c.3547A>G (p.Lys1183Glu) c.462A>G c.3727A>G (p.Lys1243Glu) c.3394A>G (p.Lys1132Glu) | ClinVar |
| 7 | g.117627690A>T | CA368997284 | CFTR | c.3517+120A>T (n.3517+120A>T) c.*3351A>T (n.*3351A>T) c.3454A>T (p.Lys1152Ter) c.3637A>T (p.Lys1213Ter) c.*290A>T (n.*290A>T) c.*298A>T (n.*298A>T) c.*2012A>T (n.*2012A>T) c.3631A>T (p.Lys1211Ter) c.*3461A>T (n.*3461A>T) c.3211A>T (p.Lys1071Ter) c.385A>T (p.Lys129Ter) c.1424A>T (n.1424A>T) c.219A>T c.1167+120A>T c.2419A>T (p.Lys807Ter) c.3547A>T (p.Lys1183Ter) c.462A>T c.3727A>T (p.Lys1243Ter) c.3394A>T (p.Lys1132Ter) | |
| 7 | g.117627692dup | CA2573141568 | CFTR | c.3517+122dup (n.3517+122dup) c.*3353dup (n.*3353dup) c.3456dup (p.Asp1153ArgfsTer?) c.3639dup (p.Asp1214ArgfsTer?) c.*292dup (n.*292dup) c.*300dup (n.*300dup) c.*2014dup (n.*2014dup) c.3633dup (p.Asp1212ArgfsTer?) c.*3463dup (n.*3463dup) c.3213dup (p.Asp1072ArgfsTer?) c.387dup (p.Asp130ArgfsTer?) c.1426dup (n.1426dup) c.221dup c.1167+122dup c.2421dup (p.Asp808ArgfsTer30) c.3456dup (p.Asp1153ArgfsTer30) c.3549dup (p.Asp1184ArgfsTer?) c.464dup c.3729dup (p.Asp1244ArgfsTer?) c.3396dup (p.Asp1133ArgfsTer?) | ClinVar dbSNP |
| 7 | g.117627692del | CA2695208380 | CFTR | c.3517+122del (n.3517+122del) c.*3353del (n.*3353del) c.3456del (p.Asp1153IlefsTer14) c.3639del (p.Asp1214IlefsTer14) c.*292del (n.*292del) c.*300del (n.*300del) c.*2014del (n.*2014del) c.3633del (p.Asp1212IlefsTer14) c.*3463del (n.*3463del) c.3213del (p.Asp1072IlefsTer14) c.387del (p.Asp130IlefsTer14) c.1426del (n.1426del) c.221del c.1167+122del c.2421del (p.Asp808IlefsTer14) c.3549del (p.Asp1184IlefsTer14) c.464del c.3729del (p.Asp1244IlefsTer14) c.3396del (p.Asp1133IlefsTer14) | |
| 7 | g.117627691A>C | CA368997288 | CFTR | c.3517+121A>C (n.3517+121A>C) c.*3352A>C (n.*3352A>C) c.3455A>C (p.Lys1152Thr) c.3638A>C (p.Lys1213Thr) c.*291A>C (n.*291A>C) c.*299A>C (n.*299A>C) c.*2013A>C (n.*2013A>C) c.3632A>C (p.Lys1211Thr) c.*3462A>C (n.*3462A>C) c.3212A>C (p.Lys1071Thr) c.386A>C (p.Lys129Thr) c.1425A>C (n.1425A>C) c.220A>C c.1167+121A>C c.2420A>C (p.Lys807Thr) c.3548A>C (p.Lys1183Thr) c.463A>C c.3728A>C (p.Lys1243Thr) c.3395A>C (p.Lys1132Thr) | |
| 7 | g.117627691A>G | CA368997290 | CFTR | c.3517+121A>G (n.3517+121A>G) c.*3352A>G (n.*3352A>G) c.3455A>G (p.Lys1152Arg) c.3638A>G (p.Lys1213Arg) c.*291A>G (n.*291A>G) c.*299A>G (n.*299A>G) c.*2013A>G (n.*2013A>G) c.3632A>G (p.Lys1211Arg) c.*3462A>G (n.*3462A>G) c.3212A>G (p.Lys1071Arg) c.386A>G (p.Lys129Arg) c.1425A>G (n.1425A>G) c.220A>G c.1167+121A>G c.2420A>G (p.Lys807Arg) c.3548A>G (p.Lys1183Arg) c.463A>G c.3728A>G (p.Lys1243Arg) c.3395A>G (p.Lys1132Arg) | |
| 7 | g.117627691A>T | CA368997292 | CFTR | c.3517+121A>T (n.3517+121A>T) c.*3352A>T (n.*3352A>T) c.3455A>T (p.Lys1152Ile) c.3638A>T (p.Lys1213Ile) c.*291A>T (n.*291A>T) c.*299A>T (n.*299A>T) c.*2013A>T (n.*2013A>T) c.3632A>T (p.Lys1211Ile) c.*3462A>T (n.*3462A>T) c.3212A>T (p.Lys1071Ile) c.386A>T (p.Lys129Ile) c.1425A>T (n.1425A>T) c.220A>T c.1167+121A>T c.2420A>T (p.Lys807Ile) c.3548A>T (p.Lys1183Ile) c.463A>T c.3728A>T (p.Lys1243Ile) c.3395A>T (p.Lys1132Ile) | |
| 7 | g.117627692A= | CA1737398697 | CFTR | c.3517+122A= (n.3517+122A=) c.*3353A= (n.*3353A=) c.3456A= (p.Lys1152=) c.3639A= (p.Lys1213=) c.*292A= (n.*292A=) c.*300A= (n.*300A=) c.*2014A= (n.*2014A=) c.3633A= (p.Lys1211=) c.*3463A= (n.*3463A=) c.3213A= (p.Lys1071=) c.387A= (p.Lys129=) c.1426A= (n.1426A=) c.221A= c.1167+122A= c.2421A= (p.Lys807=) c.3549A= (p.Lys1183=) c.464A= c.3729A= (p.Lys1243=) c.3396A= (p.Lys1132=) | |
| 7 | g.117627692A>C | CA368997294 | CFTR | c.3517+122A>C (n.3517+122A>C) c.*3353A>C (n.*3353A>C) c.3456A>C (p.Lys1152Asn) c.3639A>C (p.Lys1213Asn) c.*292A>C (n.*292A>C) c.*300A>C (n.*300A>C) c.*2014A>C (n.*2014A>C) c.3633A>C (p.Lys1211Asn) c.*3463A>C (n.*3463A>C) c.3213A>C (p.Lys1071Asn) c.387A>C (p.Lys129Asn) c.1426A>C (n.1426A>C) c.221A>C c.1167+122A>C c.2421A>C (p.Lys807Asn) c.3549A>C (p.Lys1183Asn) c.464A>C c.3729A>C (p.Lys1243Asn) c.3396A>C (p.Lys1132Asn) | |
| 7 | g.117627692A>G | CA457231441 | CFTR | c.3517+122A>G (n.3517+122A>G) c.*3353A>G (n.*3353A>G) c.3456A>G (p.Lys1152=) c.3639A>G (p.Lys1213=) c.*292A>G (n.*292A>G) c.*300A>G (n.*300A>G) c.*2014A>G (n.*2014A>G) c.3633A>G (p.Lys1211=) c.*3463A>G (n.*3463A>G) c.3213A>G (p.Lys1071=) c.387A>G (p.Lys129=) c.1426A>G (n.1426A>G) c.221A>G c.1167+122A>G c.2421A>G (p.Lys807=) c.3549A>G (p.Lys1183=) c.464A>G c.3729A>G (p.Lys1243=) c.3396A>G (p.Lys1132=) | gnomAD v4 |
| 7 | g.117627692A>T | CA368997295 | CFTR | c.3517+122A>T (n.3517+122A>T) c.*3353A>T (n.*3353A>T) c.3456A>T (p.Lys1152Asn) c.3639A>T (p.Lys1213Asn) c.*292A>T (n.*292A>T) c.*300A>T (n.*300A>T) c.*2014A>T (n.*2014A>T) c.3633A>T (p.Lys1211Asn) c.*3463A>T (n.*3463A>T) c.3213A>T (p.Lys1071Asn) c.387A>T (p.Lys129Asn) c.1426A>T (n.1426A>T) c.221A>T c.1167+122A>T c.2421A>T (p.Lys807Asn) c.3549A>T (p.Lys1183Asn) c.464A>T c.3729A>T (p.Lys1243Asn) c.3396A>T (p.Lys1132Asn) | dbSNP gnomAD v4 |
| 7 | g.117627693G>A | CA368997298 | CFTR | c.3517+123G>A (n.3517+123G>A) c.*3354G>A (n.*3354G>A) c.3457G>A (p.Asp1153Asn) c.3640G>A (p.Asp1214Asn) c.*293G>A (n.*293G>A) c.*301G>A (n.*301G>A) c.*2015G>A (n.*2015G>A) c.3634G>A (p.Asp1212Asn) c.*3464G>A (n.*3464G>A) c.3214G>A (p.Asp1072Asn) c.388G>A (p.Asp130Asn) c.1427G>A (n.1427G>A) c.222G>A c.1167+123G>A c.2422G>A (p.Asp808Asn) c.3550G>A (p.Asp1184Asn) c.465G>A c.3730G>A (p.Asp1244Asn) c.3397G>A (p.Asp1133Asn) | dbSNP |
| 7 | g.117627693G>C | CA368997301 | CFTR | c.3517+123G>C (n.3517+123G>C) c.*3354G>C (n.*3354G>C) c.3457G>C (p.Asp1153His) c.3640G>C (p.Asp1214His) c.*293G>C (n.*293G>C) c.*301G>C (n.*301G>C) c.*2015G>C (n.*2015G>C) c.3634G>C (p.Asp1212His) c.*3464G>C (n.*3464G>C) c.3214G>C (p.Asp1072His) c.388G>C (p.Asp130His) c.1427G>C (n.1427G>C) c.222G>C c.1167+123G>C c.2422G>C (p.Asp808His) c.3550G>C (p.Asp1184His) c.465G>C c.3730G>C (p.Asp1244His) c.3397G>C (p.Asp1133His) | |
| 7 | g.117627693G= | CA1737398698 | CFTR | c.3517+123G= (n.3517+123G=) c.*3354G= (n.*3354G=) c.3457G= (p.Asp1153=) c.3640G= (p.Asp1214=) c.*293G= (n.*293G=) c.*301G= (n.*301G=) c.*2015G= (n.*2015G=) c.3634G= (p.Asp1212=) c.*3464G= (n.*3464G=) c.3214G= (p.Asp1072=) c.388G= (p.Asp130=) c.1427G= (n.1427G=) c.222G= c.1167+123G= c.2422G= (p.Asp808=) c.3550G= (p.Asp1184=) c.465G= c.3730G= (p.Asp1244=) c.3397G= (p.Asp1133=) | |
| 7 | g.117627693G>T | CA368997299 | CFTR | c.3517+123G>T (n.3517+123G>T) c.*3354G>T (n.*3354G>T) c.3457G>T (p.Asp1153Tyr) c.3640G>T (p.Asp1214Tyr) c.*293G>T (n.*293G>T) c.*301G>T (n.*301G>T) c.*2015G>T (n.*2015G>T) c.3634G>T (p.Asp1212Tyr) c.*3464G>T (n.*3464G>T) c.3214G>T (p.Asp1072Tyr) c.388G>T (p.Asp130Tyr) c.1427G>T (n.1427G>T) c.222G>T c.1167+123G>T c.2422G>T (p.Asp808Tyr) c.3550G>T (p.Asp1184Tyr) c.465G>T c.3730G>T (p.Asp1244Tyr) c.3397G>T (p.Asp1133Tyr) | gnomAD v4 |
| 7 | g.117627694A= | CA1737398699 | CFTR | c.3517+124A= (n.3517+124A=) c.*3355A= (n.*3355A=) c.3458A= (p.Asp1153=) c.3641A= (p.Asp1214=) c.*294A= (n.*294A=) c.*302A= (n.*302A=) c.*2016A= (n.*2016A=) c.3635A= (p.Asp1212=) c.*3465A= (n.*3465A=) c.3215A= (p.Asp1072=) c.389A= (p.Asp130=) c.1428A= (n.1428A=) c.223A= c.1167+124A= c.2423A= (p.Asp808=) c.3551A= (p.Asp1184=) c.466A= c.3731A= (p.Asp1244=) c.3398A= (p.Asp1133=) |