WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117627592_117627607del | CA2580076335 | CFTR | c.3517+22_3517+37del (n.3517+22_3517+37del) c.*3253_*3268del (n.*3253_*3268del) c.3356_3371del (p.Lys1119ThrfsTer7) c.3539_3554del (p.Lys1180ThrfsTer7) c.*192_*207del (n.*192_*207del) c.*200_*215del (n.*200_*215del) c.*1914_*1929del (n.*1914_*1929del) c.3533_3548del (p.Lys1178ThrfsTer7) c.*3363_*3378del (n.*3363_*3378del) c.3113_3128del (p.Lys1038ThrfsTer7) c.287_302del (p.Lys96ThrfsTer7) c.1326_1341del (n.1326_1341del) c.121_136del c.1167+22_1167+37del c.2321_2336del (p.Lys774ThrfsTer7) c.3449_3464del (p.Lys1150ThrfsTer7) c.364_379del c.3629_3644del (p.Lys1210ThrfsTer7) c.3296_3311del (p.Lys1099ThrfsTer7) | ClinVar |
| 7 | g.117627595C>A | CA4451495 | CFTR | c.3517+25C>A (n.3517+25C>A) c.*3256C>A (n.*3256C>A) c.3359C>A (p.Pro1120Gln) c.3542C>A (p.Pro1181Gln) c.*195C>A (n.*195C>A) c.*203C>A (n.*203C>A) c.*1917C>A (n.*1917C>A) c.3536C>A (p.Pro1179Gln) c.*3366C>A (n.*3366C>A) c.3116C>A (p.Pro1039Gln) c.290C>A (p.Pro97Gln) c.1329C>A (n.1329C>A) c.124C>A c.1167+25C>A c.2324C>A (p.Pro775Gln) c.3452C>A (p.Pro1151Gln) c.367C>A c.3632C>A (p.Pro1211Gln) c.3299C>A (p.Pro1100Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627595C= | CA1737398639 | CFTR | c.3517+25C= (n.3517+25C=) c.*3256C= (n.*3256C=) c.3359C= (p.Pro1120=) c.3542C= (p.Pro1181=) c.*195C= (n.*195C=) c.*203C= (n.*203C=) c.*1917C= (n.*1917C=) c.3536C= (p.Pro1179=) c.*3366C= (n.*3366C=) c.3116C= (p.Pro1039=) c.290C= (p.Pro97=) c.1329C= (n.1329C=) c.124C= c.1167+25C= c.2324C= (p.Pro775=) c.3452C= (p.Pro1151=) c.367C= c.3632C= (p.Pro1211=) c.3299C= (p.Pro1100=) | |
| 7 | g.117627595C>G | CA368996329 | CFTR | c.3517+25C>G (n.3517+25C>G) c.*3256C>G (n.*3256C>G) c.3359C>G (p.Pro1120Arg) c.3542C>G (p.Pro1181Arg) c.*195C>G (n.*195C>G) c.*203C>G (n.*203C>G) c.*1917C>G (n.*1917C>G) c.3536C>G (p.Pro1179Arg) c.*3366C>G (n.*3366C>G) c.3116C>G (p.Pro1039Arg) c.290C>G (p.Pro97Arg) c.1329C>G (n.1329C>G) c.124C>G c.1167+25C>G c.2324C>G (p.Pro775Arg) c.3452C>G (p.Pro1151Arg) c.367C>G c.3632C>G (p.Pro1211Arg) c.3299C>G (p.Pro1100Arg) | gnomAD v4 |
| 7 | g.117627595C>T | CA368996331 | CFTR | c.3517+25C>T (n.3517+25C>T) c.*3256C>T (n.*3256C>T) c.3359C>T (p.Pro1120Leu) c.3542C>T (p.Pro1181Leu) c.*195C>T (n.*195C>T) c.*203C>T (n.*203C>T) c.*1917C>T (n.*1917C>T) c.3536C>T (p.Pro1179Leu) c.*3366C>T (n.*3366C>T) c.3116C>T (p.Pro1039Leu) c.290C>T (p.Pro97Leu) c.1329C>T (n.1329C>T) c.124C>T c.1167+25C>T c.2324C>T (p.Pro775Leu) c.3452C>T (p.Pro1151Leu) c.367C>T c.3632C>T (p.Pro1211Leu) c.3299C>T (p.Pro1100Leu) | gnomAD v4 |
| 7 | g.117627595_117627596insGTACATTTTATTATAATATACCGGTT | CA2684620079 | CFTR | c.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT (n.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT) c.*3256_*3257insGTACATTTTATTATAATATACCGGTT (n.*3256_*3257insGTACATTTTATTATAATATACCGGTT) c.3359_3360insGTACATTTTATTATAATATACCGGTT (p.Lys1122IlefsTer4) c.3542_3543insGTACATTTTATTATAATATACCGGTT (p.Lys1183IlefsTer4) c.*195_*196insGTACATTTTATTATAATATACCGGTT (n.*195_*196insGTACATTTTATTATAATATACCGGTT) c.*203_*204insGTACATTTTATTATAATATACCGGTT (n.*203_*204insGTACATTTTATTATAATATACCGGTT) c.*1917_*1918insGTACATTTTATTATAATATACCGGTT (n.*1917_*1918insGTACATTTTATTATAATATACCGGTT) c.3536_3537insGTACATTTTATTATAATATACCGGTT (p.Lys1181IlefsTer4) c.*3366_*3367insGTACATTTTATTATAATATACCGGTT (n.*3366_*3367insGTACATTTTATTATAATATACCGGTT) c.3116_3117insGTACATTTTATTATAATATACCGGTT (p.Lys1041IlefsTer4) c.290_291insGTACATTTTATTATAATATACCGGTT (p.Lys99IlefsTer4) c.1329_1330insGTACATTTTATTATAATATACCGGTT (n.1329_1330insGTACATTTTATTATAATATACCGGTT) c.124_125insGTACATTTTATTATAATATACCGGTT c.1167+25_1167+26insGTACATTTTATTATAATATACCGGTT c.2324_2325insGTACATTTTATTATAATATACCGGTT (p.Lys777IlefsTer4) c.3452_3453insGTACATTTTATTATAATATACCGGTT (p.Lys1153IlefsTer4) c.367_368insGTACATTTTATTATAATATACCGGTT c.3632_3633insGTACATTTTATTATAATATACCGGTT (p.Lys1213IlefsTer4) c.3299_3300insGTACATTTTATTATAATATACCGGTT (p.Lys1102IlefsTer4) | gnomAD v4 |
| 7 | g.117627596A= | CA1737398640 | CFTR | c.3517+26A= (n.3517+26A=) c.*3257A= (n.*3257A=) c.3360A= (p.Pro1120=) c.3543A= (p.Pro1181=) c.*196A= (n.*196A=) c.*204A= (n.*204A=) c.*1918A= (n.*1918A=) c.3537A= (p.Pro1179=) c.*3367A= (n.*3367A=) c.3117A= (p.Pro1039=) c.291A= (p.Pro97=) c.1330A= (n.1330A=) c.125A= c.1167+26A= c.2325A= (p.Pro775=) c.3453A= (p.Pro1151=) c.368A= c.3633A= (p.Pro1211=) c.3300A= (p.Pro1100=) | |
| 7 | g.117627596A>C | CA457231206 | CFTR | c.3517+26A>C (n.3517+26A>C) c.*3257A>C (n.*3257A>C) c.3360A>C (p.Pro1120=) c.3543A>C (p.Pro1181=) c.*196A>C (n.*196A>C) c.*204A>C (n.*204A>C) c.*1918A>C (n.*1918A>C) c.3537A>C (p.Pro1179=) c.*3367A>C (n.*3367A>C) c.3117A>C (p.Pro1039=) c.291A>C (p.Pro97=) c.1330A>C (n.1330A>C) c.125A>C c.1167+26A>C c.2325A>C (p.Pro775=) c.3453A>C (p.Pro1151=) c.368A>C c.3633A>C (p.Pro1211=) c.3300A>C (p.Pro1100=) | |
| 7 | g.117627596A>G | CA457231207 | CFTR | c.3517+26A>G (n.3517+26A>G) c.*3257A>G (n.*3257A>G) c.3360A>G (p.Pro1120=) c.3543A>G (p.Pro1181=) c.*196A>G (n.*196A>G) c.*204A>G (n.*204A>G) c.*1918A>G (n.*1918A>G) c.3537A>G (p.Pro1179=) c.*3367A>G (n.*3367A>G) c.3117A>G (p.Pro1039=) c.291A>G (p.Pro97=) c.1330A>G (n.1330A>G) c.125A>G c.1167+26A>G c.2325A>G (p.Pro775=) c.3453A>G (p.Pro1151=) c.368A>G c.3633A>G (p.Pro1211=) c.3300A>G (p.Pro1100=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627596A>T | CA457231208 | CFTR | c.3517+26A>T (n.3517+26A>T) c.*3257A>T (n.*3257A>T) c.3360A>T (p.Pro1120=) c.3543A>T (p.Pro1181=) c.*196A>T (n.*196A>T) c.*204A>T (n.*204A>T) c.*1918A>T (n.*1918A>T) c.3537A>T (p.Pro1179=) c.*3367A>T (n.*3367A>T) c.3117A>T (p.Pro1039=) c.291A>T (p.Pro97=) c.1330A>T (n.1330A>T) c.125A>T c.1167+26A>T c.2325A>T (p.Pro775=) c.3453A>T (p.Pro1151=) c.368A>T c.3633A>T (p.Pro1211=) c.3300A>T (p.Pro1100=) | |
| 7 | g.117627597T>A | CA368996333 | CFTR | c.3517+27T>A (n.3517+27T>A) c.*3258T>A (n.*3258T>A) c.3361T>A (p.Tyr1121Asn) c.3544T>A (p.Tyr1182Asn) c.*197T>A (n.*197T>A) c.*205T>A (n.*205T>A) c.*1919T>A (n.*1919T>A) c.3538T>A (p.Tyr1180Asn) c.*3368T>A (n.*3368T>A) c.3118T>A (p.Tyr1040Asn) c.292T>A (p.Tyr98Asn) c.1331T>A (n.1331T>A) c.126T>A c.1167+27T>A c.2326T>A (p.Tyr776Asn) c.3454T>A (p.Tyr1152Asn) c.369T>A c.3634T>A (p.Tyr1212Asn) c.3301T>A (p.Tyr1101Asn) | |
| 7 | g.117627597T>C | CA4451496 | CFTR | c.3517+27T>C (n.3517+27T>C) c.*3258T>C (n.*3258T>C) c.3361T>C (p.Tyr1121His) c.3544T>C (p.Tyr1182His) c.*197T>C (n.*197T>C) c.*205T>C (n.*205T>C) c.*1919T>C (n.*1919T>C) c.3538T>C (p.Tyr1180His) c.*3368T>C (n.*3368T>C) c.3118T>C (p.Tyr1040His) c.292T>C (p.Tyr98His) c.1331T>C (n.1331T>C) c.126T>C c.1167+27T>C c.2326T>C (p.Tyr776His) c.3454T>C (p.Tyr1152His) c.369T>C c.3634T>C (p.Tyr1212His) c.3301T>C (p.Tyr1101His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627597T>G | CA368996335 | CFTR | c.3517+27T>G (n.3517+27T>G) c.*3258T>G (n.*3258T>G) c.3361T>G (p.Tyr1121Asp) c.3544T>G (p.Tyr1182Asp) c.*197T>G (n.*197T>G) c.*205T>G (n.*205T>G) c.*1919T>G (n.*1919T>G) c.3538T>G (p.Tyr1180Asp) c.*3368T>G (n.*3368T>G) c.3118T>G (p.Tyr1040Asp) c.292T>G (p.Tyr98Asp) c.1331T>G (n.1331T>G) c.126T>G c.1167+27T>G c.2326T>G (p.Tyr776Asp) c.3454T>G (p.Tyr1152Asp) c.369T>G c.3634T>G (p.Tyr1212Asp) c.3301T>G (p.Tyr1101Asp) | |
| 7 | g.117627597T= | CA1737398641 | CFTR | c.3517+27T= (n.3517+27T=) c.*3258T= (n.*3258T=) c.3361T= (p.Tyr1121=) c.3544T= (p.Tyr1182=) c.*197T= (n.*197T=) c.*205T= (n.*205T=) c.*1919T= (n.*1919T=) c.3538T= (p.Tyr1180=) c.*3368T= (n.*3368T=) c.3118T= (p.Tyr1040=) c.292T= (p.Tyr98=) c.1331T= (n.1331T=) c.126T= c.1167+27T= c.2326T= (p.Tyr776=) c.3454T= (p.Tyr1152=) c.369T= c.3634T= (p.Tyr1212=) c.3301T= (p.Tyr1101=) | |
| 7 | g.117627598A>C | CA368996341 | CFTR | c.3517+28A>C (n.3517+28A>C) c.*3259A>C (n.*3259A>C) c.3362A>C (p.Tyr1121Ser) c.3545A>C (p.Tyr1182Ser) c.*198A>C (n.*198A>C) c.*206A>C (n.*206A>C) c.*1920A>C (n.*1920A>C) c.3539A>C (p.Tyr1180Ser) c.*3369A>C (n.*3369A>C) c.3119A>C (p.Tyr1040Ser) c.293A>C (p.Tyr98Ser) c.1332A>C (n.1332A>C) c.127A>C c.1167+28A>C c.2327A>C (p.Tyr776Ser) c.3455A>C (p.Tyr1152Ser) c.370A>C c.3635A>C (p.Tyr1212Ser) c.3302A>C (p.Tyr1101Ser) | |
| 7 | g.117627598A>G | CA368996338 | CFTR | c.3517+28A>G (n.3517+28A>G) c.*3259A>G (n.*3259A>G) c.3362A>G (p.Tyr1121Cys) c.3545A>G (p.Tyr1182Cys) c.*198A>G (n.*198A>G) c.*206A>G (n.*206A>G) c.*1920A>G (n.*1920A>G) c.3539A>G (p.Tyr1180Cys) c.*3369A>G (n.*3369A>G) c.3119A>G (p.Tyr1040Cys) c.293A>G (p.Tyr98Cys) c.1332A>G (n.1332A>G) c.127A>G c.1167+28A>G c.2327A>G (p.Tyr776Cys) c.3455A>G (p.Tyr1152Cys) c.370A>G c.3635A>G (p.Tyr1212Cys) c.3302A>G (p.Tyr1101Cys) | |
| 7 | g.117627598A>T | CA368996340 | CFTR | c.3517+28A>T (n.3517+28A>T) c.*3259A>T (n.*3259A>T) c.3362A>T (p.Tyr1121Phe) c.3545A>T (p.Tyr1182Phe) c.*198A>T (n.*198A>T) c.*206A>T (n.*206A>T) c.*1920A>T (n.*1920A>T) c.3539A>T (p.Tyr1180Phe) c.*3369A>T (n.*3369A>T) c.3119A>T (p.Tyr1040Phe) c.293A>T (p.Tyr98Phe) c.1332A>T (n.1332A>T) c.127A>T c.1167+28A>T c.2327A>T (p.Tyr776Phe) c.3455A>T (p.Tyr1152Phe) c.370A>T c.3635A>T (p.Tyr1212Phe) c.3302A>T (p.Tyr1101Phe) | |
| 7 | g.117627598_117627599delinsAC | CA1737398642 | CFTR | c.3517+28_3517+29delinsAC (n.3517+28_3517+29delinsAC) c.*3259_*3260delinsAC (n.*3259_*3260delinsAC) c.3362_3363delinsAC (p.Tyr1121=) c.3545_3546delinsAC (p.Tyr1182=) c.*198_*199delinsAC (n.*198_*199delinsAC) c.*206_*207delinsAC (n.*206_*207delinsAC) c.*1920_*1921delinsAC (n.*1920_*1921delinsAC) c.3539_3540delinsAC (p.Tyr1180=) c.*3369_*3370delinsAC (n.*3369_*3370delinsAC) c.3119_3120delinsAC (p.Tyr1040=) c.293_294delinsAC (p.Tyr98=) c.1332_1333delinsAC (n.1332_1333delinsAC) c.127_128delinsAC c.1167+28_1167+29delinsAC c.2327_2328delinsAC (p.Tyr776=) c.3455_3456delinsAC (p.Tyr1152=) c.370_371delinsAC c.3635_3636delinsAC (p.Tyr1212=) c.3302_3303delinsAC (p.Tyr1101=) | |
| 7 | g.117627599del | CA1139660069 | CFTR | c.3517+29del (n.3517+29del) c.*3260del (n.*3260del) c.3363del (p.Tyr1121Ter) c.3546del (p.Tyr1182Ter) c.*199del (n.*199del) c.*207del (n.*207del) c.*1921del (n.*1921del) c.3540del (p.Tyr1180Ter) c.*3370del (n.*3370del) c.3120del (p.Tyr1040Ter) c.294del (p.Tyr98Ter) c.1333del (n.1333del) c.128del c.1167+29del c.2328del (p.Tyr776Ter) c.3456del (p.Tyr1152Ter) c.371del c.3636del (p.Tyr1212Ter) c.3303del (p.Tyr1101Ter) | ClinVar dbSNP |
| 7 | g.117627599C>A | CA368996342 | CFTR | c.3517+29C>A (n.3517+29C>A) c.*3260C>A (n.*3260C>A) c.3363C>A (p.Tyr1121Ter) c.3546C>A (p.Tyr1182Ter) c.*199C>A (n.*199C>A) c.*207C>A (n.*207C>A) c.*1921C>A (n.*1921C>A) c.3540C>A (p.Tyr1180Ter) c.*3370C>A (n.*3370C>A) c.3120C>A (p.Tyr1040Ter) c.294C>A (p.Tyr98Ter) c.1333C>A (n.1333C>A) c.128C>A c.1167+29C>A c.2328C>A (p.Tyr776Ter) c.3456C>A (p.Tyr1152Ter) c.371C>A c.3636C>A (p.Tyr1212Ter) c.3303C>A (p.Tyr1101Ter) | dbSNP |
| 7 | g.117627599C= | CA1737398643 | CFTR | c.3517+29C= (n.3517+29C=) c.*3260C= (n.*3260C=) c.3363C= (p.Tyr1121=) c.3546C= (p.Tyr1182=) c.*199C= (n.*199C=) c.*207C= (n.*207C=) c.*1921C= (n.*1921C=) c.3540C= (p.Tyr1180=) c.*3370C= (n.*3370C=) c.3120C= (p.Tyr1040=) c.294C= (p.Tyr98=) c.1333C= (n.1333C=) c.128C= c.1167+29C= c.2328C= (p.Tyr776=) c.3456C= (p.Tyr1152=) c.371C= c.3636C= (p.Tyr1212=) c.3303C= (p.Tyr1101=) | |
| 7 | g.117627599C>G | CA327228 | CFTR | c.3517+29C>G (n.3517+29C>G) c.*3260C>G (n.*3260C>G) c.3363C>G (p.Tyr1121Ter) c.3546C>G (p.Tyr1182Ter) c.*199C>G (n.*199C>G) c.*207C>G (n.*207C>G) c.*1921C>G (n.*1921C>G) c.3540C>G (p.Tyr1180Ter) c.*3370C>G (n.*3370C>G) c.3120C>G (p.Tyr1040Ter) c.294C>G (p.Tyr98Ter) c.1333C>G (n.1333C>G) c.128C>G c.1167+29C>G c.2328C>G (p.Tyr776Ter) c.3456C>G (p.Tyr1152Ter) c.371C>G c.3636C>G (p.Tyr1212Ter) c.3303C>G (p.Tyr1101Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627599C>T | CA457231209 | CFTR | c.3517+29C>T (n.3517+29C>T) c.*3260C>T (n.*3260C>T) c.3363C>T (p.Tyr1121=) c.3546C>T (p.Tyr1182=) c.*199C>T (n.*199C>T) c.*207C>T (n.*207C>T) c.*1921C>T (n.*1921C>T) c.3540C>T (p.Tyr1180=) c.*3370C>T (n.*3370C>T) c.3120C>T (p.Tyr1040=) c.294C>T (p.Tyr98=) c.1333C>T (n.1333C>T) c.128C>T c.1167+29C>T c.2328C>T (p.Tyr776=) c.3456C>T (p.Tyr1152=) c.371C>T c.3636C>T (p.Tyr1212=) c.3303C>T (p.Tyr1101=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117627600A>C | CA368996346 | CFTR | c.3517+30A>C (n.3517+30A>C) c.*3261A>C (n.*3261A>C) c.3364A>C (p.Lys1122Gln) c.3547A>C (p.Lys1183Gln) c.*200A>C (n.*200A>C) c.*208A>C (n.*208A>C) c.*1922A>C (n.*1922A>C) c.3541A>C (p.Lys1181Gln) c.*3371A>C (n.*3371A>C) c.3121A>C (p.Lys1041Gln) c.295A>C (p.Lys99Gln) c.1334A>C (n.1334A>C) c.129A>C c.1167+30A>C c.2329A>C (p.Lys777Gln) c.3457A>C (p.Lys1153Gln) c.372A>C c.3637A>C (p.Lys1213Gln) c.3304A>C (p.Lys1102Gln) | |
| 7 | g.117627600A>G | CA368996347 | CFTR | c.3517+30A>G (n.3517+30A>G) c.*3261A>G (n.*3261A>G) c.3364A>G (p.Lys1122Glu) c.3547A>G (p.Lys1183Glu) c.*200A>G (n.*200A>G) c.*208A>G (n.*208A>G) c.*1922A>G (n.*1922A>G) c.3541A>G (p.Lys1181Glu) c.*3371A>G (n.*3371A>G) c.3121A>G (p.Lys1041Glu) c.295A>G (p.Lys99Glu) c.1334A>G (n.1334A>G) c.129A>G c.1167+30A>G c.2329A>G (p.Lys777Glu) c.3457A>G (p.Lys1153Glu) c.372A>G c.3637A>G (p.Lys1213Glu) c.3304A>G (p.Lys1102Glu) | gnomAD v4 |
| 7 | g.117627600A>T | CA368996349 | CFTR | c.3517+30A>T (n.3517+30A>T) c.*3261A>T (n.*3261A>T) c.3364A>T (p.Lys1122Ter) c.3547A>T (p.Lys1183Ter) c.*200A>T (n.*200A>T) c.*208A>T (n.*208A>T) c.*1922A>T (n.*1922A>T) c.3541A>T (p.Lys1181Ter) c.*3371A>T (n.*3371A>T) c.3121A>T (p.Lys1041Ter) c.295A>T (p.Lys99Ter) c.1334A>T (n.1334A>T) c.129A>T c.1167+30A>T c.2329A>T (p.Lys777Ter) c.3457A>T (p.Lys1153Ter) c.372A>T c.3637A>T (p.Lys1213Ter) c.3304A>T (p.Lys1102Ter) | ClinVar |
| 7 | g.117627601A>C | CA368996353 | CFTR | c.3517+31A>C (n.3517+31A>C) c.*3262A>C (n.*3262A>C) c.3365A>C (p.Lys1122Thr) c.3548A>C (p.Lys1183Thr) c.*201A>C (n.*201A>C) c.*209A>C (n.*209A>C) c.*1923A>C (n.*1923A>C) c.3542A>C (p.Lys1181Thr) c.*3372A>C (n.*3372A>C) c.3122A>C (p.Lys1041Thr) c.296A>C (p.Lys99Thr) c.1335A>C (n.1335A>C) c.130A>C c.1167+31A>C c.2330A>C (p.Lys777Thr) c.3458A>C (p.Lys1153Thr) c.373A>C c.3638A>C (p.Lys1213Thr) c.3305A>C (p.Lys1102Thr) | |
| 7 | g.117627601A>G | CA368996351 | CFTR | c.3517+31A>G (n.3517+31A>G) c.*3262A>G (n.*3262A>G) c.3365A>G (p.Lys1122Arg) c.3548A>G (p.Lys1183Arg) c.*201A>G (n.*201A>G) c.*209A>G (n.*209A>G) c.*1923A>G (n.*1923A>G) c.3542A>G (p.Lys1181Arg) c.*3372A>G (n.*3372A>G) c.3122A>G (p.Lys1041Arg) c.296A>G (p.Lys99Arg) c.1335A>G (n.1335A>G) c.130A>G c.1167+31A>G c.2330A>G (p.Lys777Arg) c.3458A>G (p.Lys1153Arg) c.373A>G c.3638A>G (p.Lys1213Arg) c.3305A>G (p.Lys1102Arg) | |
| 7 | g.117627601A>T | CA368996352 | CFTR | c.3517+31A>T (n.3517+31A>T) c.*3262A>T (n.*3262A>T) c.3365A>T (p.Lys1122Met) c.3548A>T (p.Lys1183Met) c.*201A>T (n.*201A>T) c.*209A>T (n.*209A>T) c.*1923A>T (n.*1923A>T) c.3542A>T (p.Lys1181Met) c.*3372A>T (n.*3372A>T) c.3122A>T (p.Lys1041Met) c.296A>T (p.Lys99Met) c.1335A>T (n.1335A>T) c.130A>T c.1167+31A>T c.2330A>T (p.Lys777Met) c.3458A>T (p.Lys1153Met) c.373A>T c.3638A>T (p.Lys1213Met) c.3305A>T (p.Lys1102Met) | |
| 7 | g.117627602G>A | CA457231210 | CFTR | c.3517+32G>A (n.3517+32G>A) c.*3263G>A (n.*3263G>A) c.3366G>A (p.Lys1122=) c.3549G>A (p.Lys1183=) c.*202G>A (n.*202G>A) c.*210G>A (n.*210G>A) c.*1924G>A (n.*1924G>A) c.3543G>A (p.Lys1181=) c.*3373G>A (n.*3373G>A) c.3123G>A (p.Lys1041=) c.297G>A (p.Lys99=) c.1336G>A (n.1336G>A) c.131G>A c.1167+32G>A c.2331G>A (p.Lys777=) c.3459G>A (p.Lys1153=) c.374G>A c.3639G>A (p.Lys1213=) c.3306G>A (p.Lys1102=) | |
| 7 | g.117627602G>C | CA368996354 | CFTR | c.3517+32G>C (n.3517+32G>C) c.*3263G>C (n.*3263G>C) c.3366G>C (p.Lys1122Asn) c.3549G>C (p.Lys1183Asn) c.*202G>C (n.*202G>C) c.*210G>C (n.*210G>C) c.*1924G>C (n.*1924G>C) c.3543G>C (p.Lys1181Asn) c.*3373G>C (n.*3373G>C) c.3123G>C (p.Lys1041Asn) c.297G>C (p.Lys99Asn) c.1336G>C (n.1336G>C) c.131G>C c.1167+32G>C c.2331G>C (p.Lys777Asn) c.3459G>C (p.Lys1153Asn) c.374G>C c.3639G>C (p.Lys1213Asn) c.3306G>C (p.Lys1102Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627602G= | CA1737398644 | CFTR | c.3517+32G= (n.3517+32G=) c.*3263G= (n.*3263G=) c.3366G= (p.Lys1122=) c.3549G= (p.Lys1183=) c.*202G= (n.*202G=) c.*210G= (n.*210G=) c.*1924G= (n.*1924G=) c.3543G= (p.Lys1181=) c.*3373G= (n.*3373G=) c.3123G= (p.Lys1041=) c.297G= (p.Lys99=) c.1336G= (n.1336G=) c.131G= c.1167+32G= c.2331G= (p.Lys777=) c.3459G= (p.Lys1153=) c.374G= c.3639G= (p.Lys1213=) c.3306G= (p.Lys1102=) | |
| 7 | g.117627602G>T | CA368996356 | CFTR | c.3517+32G>T (n.3517+32G>T) c.*3263G>T (n.*3263G>T) c.3366G>T (p.Lys1122Asn) c.3549G>T (p.Lys1183Asn) c.*202G>T (n.*202G>T) c.*210G>T (n.*210G>T) c.*1924G>T (n.*1924G>T) c.3543G>T (p.Lys1181Asn) c.*3373G>T (n.*3373G>T) c.3123G>T (p.Lys1041Asn) c.297G>T (p.Lys99Asn) c.1336G>T (n.1336G>T) c.131G>T c.1167+32G>T c.2331G>T (p.Lys777Asn) c.3459G>T (p.Lys1153Asn) c.374G>T c.3639G>T (p.Lys1213Asn) c.3306G>T (p.Lys1102Asn) | |
| 7 | g.117627603A>C | CA368996359 | CFTR | c.3517+33A>C (n.3517+33A>C) c.*3264A>C (n.*3264A>C) c.3367A>C (p.Asn1123His) c.3550A>C (p.Asn1184His) c.*203A>C (n.*203A>C) c.*211A>C (n.*211A>C) c.*1925A>C (n.*1925A>C) c.3544A>C (p.Asn1182His) c.*3374A>C (n.*3374A>C) c.3124A>C (p.Asn1042His) c.298A>C (p.Asn100His) c.1337A>C (n.1337A>C) c.132A>C c.1167+33A>C c.2332A>C (p.Asn778His) c.3460A>C (p.Asn1154His) c.375A>C c.3640A>C (p.Asn1214His) c.3307A>C (p.Asn1103His) | |
| 7 | g.117627603A>G | CA368996361 | CFTR | c.3517+33A>G (n.3517+33A>G) c.*3264A>G (n.*3264A>G) c.3367A>G (p.Asn1123Asp) c.3550A>G (p.Asn1184Asp) c.*203A>G (n.*203A>G) c.*211A>G (n.*211A>G) c.*1925A>G (n.*1925A>G) c.3544A>G (p.Asn1182Asp) c.*3374A>G (n.*3374A>G) c.3124A>G (p.Asn1042Asp) c.298A>G (p.Asn100Asp) c.1337A>G (n.1337A>G) c.132A>G c.1167+33A>G c.2332A>G (p.Asn778Asp) c.3460A>G (p.Asn1154Asp) c.375A>G c.3640A>G (p.Asn1214Asp) c.3307A>G (p.Asn1103Asp) | |
| 7 | g.117627603A>T | CA368996363 | CFTR | c.3517+33A>T (n.3517+33A>T) c.*3264A>T (n.*3264A>T) c.3367A>T (p.Asn1123Tyr) c.3550A>T (p.Asn1184Tyr) c.*203A>T (n.*203A>T) c.*211A>T (n.*211A>T) c.*1925A>T (n.*1925A>T) c.3544A>T (p.Asn1182Tyr) c.*3374A>T (n.*3374A>T) c.3124A>T (p.Asn1042Tyr) c.298A>T (p.Asn100Tyr) c.1337A>T (n.1337A>T) c.132A>T c.1167+33A>T c.2332A>T (p.Asn778Tyr) c.3460A>T (p.Asn1154Tyr) c.375A>T c.3640A>T (p.Asn1214Tyr) c.3307A>T (p.Asn1103Tyr) | |
| 7 | g.117627604A= | CA1737398645 | CFTR | c.3517+34A= (n.3517+34A=) c.*3265A= (n.*3265A=) c.3368A= (p.Asn1123=) c.3551A= (p.Asn1184=) c.*204A= (n.*204A=) c.*212A= (n.*212A=) c.*1926A= (n.*1926A=) c.3545A= (p.Asn1182=) c.*3375A= (n.*3375A=) c.3125A= (p.Asn1042=) c.299A= (p.Asn100=) c.1338A= (n.1338A=) c.133A= c.1167+34A= c.2333A= (p.Asn778=) c.3461A= (p.Asn1154=) c.376A= c.3641A= (p.Asn1214=) c.3308A= (p.Asn1103=) | |
| 7 | g.117627604A>C | CA368996365 | CFTR | c.3517+34A>C (n.3517+34A>C) c.*3265A>C (n.*3265A>C) c.3368A>C (p.Asn1123Thr) c.3551A>C (p.Asn1184Thr) c.*204A>C (n.*204A>C) c.*212A>C (n.*212A>C) c.*1926A>C (n.*1926A>C) c.3545A>C (p.Asn1182Thr) c.*3375A>C (n.*3375A>C) c.3125A>C (p.Asn1042Thr) c.299A>C (p.Asn100Thr) c.1338A>C (n.1338A>C) c.133A>C c.1167+34A>C c.2333A>C (p.Asn778Thr) c.3461A>C (p.Asn1154Thr) c.376A>C c.3641A>C (p.Asn1214Thr) c.3308A>C (p.Asn1103Thr) | |
| 7 | g.117627604A>G | CA368996367 | CFTR | c.3517+34A>G (n.3517+34A>G) c.*3265A>G (n.*3265A>G) c.3368A>G (p.Asn1123Ser) c.3551A>G (p.Asn1184Ser) c.*204A>G (n.*204A>G) c.*212A>G (n.*212A>G) c.*1926A>G (n.*1926A>G) c.3545A>G (p.Asn1182Ser) c.*3375A>G (n.*3375A>G) c.3125A>G (p.Asn1042Ser) c.299A>G (p.Asn100Ser) c.1338A>G (n.1338A>G) c.133A>G c.1167+34A>G c.2333A>G (p.Asn778Ser) c.3461A>G (p.Asn1154Ser) c.376A>G c.3641A>G (p.Asn1214Ser) c.3308A>G (p.Asn1103Ser) | |
| 7 | g.117627604A>T | CA368996368 | CFTR | c.3517+34A>T (n.3517+34A>T) c.*3265A>T (n.*3265A>T) c.3368A>T (p.Asn1123Ile) c.3551A>T (p.Asn1184Ile) c.*204A>T (n.*204A>T) c.*212A>T (n.*212A>T) c.*1926A>T (n.*1926A>T) c.3545A>T (p.Asn1182Ile) c.*3375A>T (n.*3375A>T) c.3125A>T (p.Asn1042Ile) c.299A>T (p.Asn100Ile) c.1338A>T (n.1338A>T) c.133A>T c.1167+34A>T c.2333A>T (p.Asn778Ile) c.3461A>T (p.Asn1154Ile) c.376A>T c.3641A>T (p.Asn1214Ile) c.3308A>T (p.Asn1103Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627605del | CA2579000254 | CFTR | c.3517+35del (n.3517+35del) c.*3266del (n.*3266del) c.3369del (p.Asn1123LysfsTer8) c.3552del (p.Asn1184LysfsTer8) c.*205del (n.*205del) c.*213del (n.*213del) c.*1927del (n.*1927del) c.3546del (p.Asn1182LysfsTer8) c.*3376del (n.*3376del) c.3126del (p.Asn1042LysfsTer8) c.300del (p.Asn100LysfsTer8) c.1339del (n.1339del) c.134del c.1167+35del c.2334del (p.Asn778LysfsTer8) c.3462del (p.Asn1154LysfsTer8) c.377del c.3642del (p.Asn1214LysfsTer8) c.3309del (p.Asn1103LysfsTer8) | |
| 7 | g.117627605T>A | CA368996369 | CFTR | c.3517+35T>A (n.3517+35T>A) c.*3266T>A (n.*3266T>A) c.3369T>A (p.Asn1123Lys) c.3552T>A (p.Asn1184Lys) c.*205T>A (n.*205T>A) c.*213T>A (n.*213T>A) c.*1927T>A (n.*1927T>A) c.3546T>A (p.Asn1182Lys) c.*3376T>A (n.*3376T>A) c.3126T>A (p.Asn1042Lys) c.300T>A (p.Asn100Lys) c.1339T>A (n.1339T>A) c.134T>A c.1167+35T>A c.2334T>A (p.Asn778Lys) c.3462T>A (p.Asn1154Lys) c.377T>A c.3642T>A (p.Asn1214Lys) c.3309T>A (p.Asn1103Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627605T>C | CA457231213 | CFTR | c.3517+35T>C (n.3517+35T>C) c.*3266T>C (n.*3266T>C) c.3369T>C (p.Asn1123=) c.3552T>C (p.Asn1184=) c.*205T>C (n.*205T>C) c.*213T>C (n.*213T>C) c.*1927T>C (n.*1927T>C) c.3546T>C (p.Asn1182=) c.*3376T>C (n.*3376T>C) c.3126T>C (p.Asn1042=) c.300T>C (p.Asn100=) c.1339T>C (n.1339T>C) c.134T>C c.1167+35T>C c.2334T>C (p.Asn778=) c.3462T>C (p.Asn1154=) c.377T>C c.3642T>C (p.Asn1214=) c.3309T>C (p.Asn1103=) | ClinVar |
| 7 | g.117627605T>G | CA368996371 | CFTR | c.3517+35T>G (n.3517+35T>G) c.*3266T>G (n.*3266T>G) c.3369T>G (p.Asn1123Lys) c.3552T>G (p.Asn1184Lys) c.*205T>G (n.*205T>G) c.*213T>G (n.*213T>G) c.*1927T>G (n.*1927T>G) c.3546T>G (p.Asn1182Lys) c.*3376T>G (n.*3376T>G) c.3126T>G (p.Asn1042Lys) c.300T>G (p.Asn100Lys) c.1339T>G (n.1339T>G) c.134T>G c.1167+35T>G c.2334T>G (p.Asn778Lys) c.3462T>G (p.Asn1154Lys) c.377T>G c.3642T>G (p.Asn1214Lys) c.3309T>G (p.Asn1103Lys) | |
| 7 | g.117627605T= | CA1737398646 | CFTR | c.3517+35T= (n.3517+35T=) c.*3266T= (n.*3266T=) c.3369T= (p.Asn1123=) c.3552T= (p.Asn1184=) c.*205T= (n.*205T=) c.*213T= (n.*213T=) c.*1927T= (n.*1927T=) c.3546T= (p.Asn1182=) c.*3376T= (n.*3376T=) c.3126T= (p.Asn1042=) c.300T= (p.Asn100=) c.1339T= (n.1339T=) c.134T= c.1167+35T= c.2334T= (p.Asn778=) c.3462T= (p.Asn1154=) c.377T= c.3642T= (p.Asn1214=) c.3309T= (p.Asn1103=) | |
| 7 | g.117627606G>A | CA368996373 | CFTR | c.3517+36G>A (n.3517+36G>A) c.*3267G>A (n.*3267G>A) c.3370G>A (p.Gly1124Ser) c.3553G>A (p.Gly1185Ser) c.*206G>A (n.*206G>A) c.*214G>A (n.*214G>A) c.*1928G>A (n.*1928G>A) c.3547G>A (p.Gly1183Ser) c.*3377G>A (n.*3377G>A) c.3127G>A (p.Gly1043Ser) c.301G>A (p.Gly101Ser) c.1340G>A (n.1340G>A) c.135G>A c.1167+36G>A c.2335G>A (p.Gly779Ser) c.3463G>A (p.Gly1155Ser) c.378G>A c.3643G>A (p.Gly1215Ser) c.3310G>A (p.Gly1104Ser) | gnomAD v4 |