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.117627525C>A | CA368995917 | CFTR | c.3472C>A (p.Arg1158=) c.*3186C>A (n.*3186C>A) c.3289C>A (p.Arg1097=) c.*125C>A (n.*125C>A) c.*133C>A (n.*133C>A) c.*1847C>A (n.*1847C>A) c.3466C>A (p.Arg1156=) c.*3296C>A (n.*3296C>A) c.3046C>A (p.Arg1016=) c.220C>A (p.Arg74=) c.1259C>A (n.1259C>A) c.54C>A c.1122C>A c.2254C>A (p.Arg752=) c.3382C>A (p.Arg1128=) c.297C>A c.3562C>A (p.Arg1188=) c.3229C>A (p.Arg1077=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627525C= | CA1737398601 | CFTR | c.3472C= (p.Arg1158=) c.*3186C= (n.*3186C=) c.3289C= (p.Arg1097=) c.*125C= (n.*125C=) c.*133C= (n.*133C=) c.*1847C= (n.*1847C=) c.3466C= (p.Arg1156=) c.*3296C= (n.*3296C=) c.3046C= (p.Arg1016=) c.220C= (p.Arg74=) c.1259C= (n.1259C=) c.54C= c.1122C= c.2254C= (p.Arg752=) c.3382C= (p.Arg1128=) c.297C= c.3562C= (p.Arg1188=) c.3229C= (p.Arg1077=) | |
| 7 | g.117627525C>G | CA368995920 | CFTR | c.3472C>G (p.Arg1158Gly) c.*3186C>G (n.*3186C>G) c.3289C>G (p.Arg1097Gly) c.*125C>G (n.*125C>G) c.*133C>G (n.*133C>G) c.*1847C>G (n.*1847C>G) c.3466C>G (p.Arg1156Gly) c.*3296C>G (n.*3296C>G) c.3046C>G (p.Arg1016Gly) c.220C>G (p.Arg74Gly) c.1259C>G (n.1259C>G) c.54C>G c.1122C>G c.2254C>G (p.Arg752Gly) c.3382C>G (p.Arg1128Gly) c.297C>G c.3562C>G (p.Arg1188Gly) c.3229C>G (p.Arg1077Gly) | |
| 7 | g.117627525C>T | CA325537 | CFTR | c.3472C>T (p.Arg1158Ter) c.*3186C>T (n.*3186C>T) c.3289C>T (p.Arg1097Ter) c.*125C>T (n.*125C>T) c.*133C>T (n.*133C>T) c.*1847C>T (n.*1847C>T) c.3466C>T (p.Arg1156Ter) c.*3296C>T (n.*3296C>T) c.3046C>T (p.Arg1016Ter) c.220C>T (p.Arg74Ter) c.1259C>T (n.1259C>T) c.54C>T c.1122C>T c.2254C>T (p.Arg752Ter) c.3382C>T (p.Arg1128Ter) c.297C>T c.3562C>T (p.Arg1188Ter) c.3229C>T (p.Arg1077Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117627526G>A | CA4451483 | CFTR | c.3473G>A (p.Arg1158Gln) c.*3187G>A (n.*3187G>A) c.3290G>A (p.Arg1097Gln) c.*126G>A (n.*126G>A) c.*134G>A (n.*134G>A) c.*1848G>A (n.*1848G>A) c.3467G>A (p.Arg1156Gln) c.*3297G>A (n.*3297G>A) c.3047G>A (p.Arg1016Gln) c.221G>A (p.Arg74Gln) c.1260G>A (n.1260G>A) c.55G>A c.1123G>A c.2255G>A (p.Arg752Gln) c.3383G>A (p.Arg1128Gln) c.298G>A c.3563G>A (p.Arg1188Gln) c.3230G>A (p.Arg1077Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117627526G>C | CA368995928 | CFTR | c.3473G>C (p.Arg1158Pro) c.*3187G>C (n.*3187G>C) c.3290G>C (p.Arg1097Pro) c.*126G>C (n.*126G>C) c.*134G>C (n.*134G>C) c.*1848G>C (n.*1848G>C) c.3467G>C (p.Arg1156Pro) c.*3297G>C (n.*3297G>C) c.3047G>C (p.Arg1016Pro) c.221G>C (p.Arg74Pro) c.1260G>C (n.1260G>C) c.55G>C c.1123G>C c.2255G>C (p.Arg752Pro) c.3383G>C (p.Arg1128Pro) c.298G>C c.3563G>C (p.Arg1188Pro) c.3230G>C (p.Arg1077Pro) | |
| 7 | g.117627526G= | CA1737398602 | CFTR | c.3473G= (p.Arg1158=) c.*3187G= (n.*3187G=) c.3290G= (p.Arg1097=) c.*126G= (n.*126G=) c.*134G= (n.*134G=) c.*1848G= (n.*1848G=) c.3467G= (p.Arg1156=) c.*3297G= (n.*3297G=) c.3047G= (p.Arg1016=) c.221G= (p.Arg74=) c.1260G= (n.1260G=) c.55G= c.1123G= c.2255G= (p.Arg752=) c.3383G= (p.Arg1128=) c.298G= c.3563G= (p.Arg1188=) c.3230G= (p.Arg1077=) | |
| 7 | g.117627526G>T | CA368995932 | CFTR | c.3473G>T (p.Arg1158Leu) c.*3187G>T (n.*3187G>T) c.3290G>T (p.Arg1097Leu) c.*126G>T (n.*126G>T) c.*134G>T (n.*134G>T) c.*1848G>T (n.*1848G>T) c.3467G>T (p.Arg1156Leu) c.*3297G>T (n.*3297G>T) c.3047G>T (p.Arg1016Leu) c.221G>T (p.Arg74Leu) c.1260G>T (n.1260G>T) c.55G>T c.1123G>T c.2255G>T (p.Arg752Leu) c.3383G>T (p.Arg1128Leu) c.298G>T c.3563G>T (p.Arg1188Leu) c.3230G>T (p.Arg1077Leu) | |
| 7 | g.117627527A>C | CA457231140 | CFTR | c.3474A>C (p.Arg1158=) c.*3188A>C (n.*3188A>C) c.3291A>C (p.Arg1097=) c.*127A>C (n.*127A>C) c.*135A>C (n.*135A>C) c.*1849A>C (n.*1849A>C) c.3468A>C (p.Arg1156=) c.*3298A>C (n.*3298A>C) c.3048A>C (p.Arg1016=) c.222A>C (p.Arg74=) c.1261A>C (n.1261A>C) c.56A>C c.1124A>C c.2256A>C (p.Arg752=) c.3384A>C (p.Arg1128=) c.299A>C c.3564A>C (p.Arg1188=) c.3231A>C (p.Arg1077=) | |
| 7 | g.117627527A>G | CA457231141 | CFTR | c.3474A>G (p.Arg1158=) c.*3188A>G (n.*3188A>G) c.3291A>G (p.Arg1097=) c.*127A>G (n.*127A>G) c.*135A>G (n.*135A>G) c.*1849A>G (n.*1849A>G) c.3468A>G (p.Arg1156=) c.*3298A>G (n.*3298A>G) c.3048A>G (p.Arg1016=) c.222A>G (p.Arg74=) c.1261A>G (n.1261A>G) c.56A>G c.1124A>G c.2256A>G (p.Arg752=) c.3384A>G (p.Arg1128=) c.299A>G c.3564A>G (p.Arg1188=) c.3231A>G (p.Arg1077=) | gnomAD v4 |
| 7 | g.117627527A>T | CA457231142 | CFTR | c.3474A>T (p.Arg1158=) c.*3188A>T (n.*3188A>T) c.3291A>T (p.Arg1097=) c.*127A>T (n.*127A>T) c.*135A>T (n.*135A>T) c.*1849A>T (n.*1849A>T) c.3468A>T (p.Arg1156=) c.*3298A>T (n.*3298A>T) c.3048A>T (p.Arg1016=) c.222A>T (p.Arg74=) c.1261A>T (n.1261A>T) c.56A>T c.1124A>T c.2256A>T (p.Arg752=) c.3384A>T (p.Arg1128=) c.299A>T c.3564A>T (p.Arg1188=) c.3231A>T (p.Arg1077=) | ClinVar dbSNP |
| 7 | g.117627528T>A | CA368995935 | CFTR | c.3475T>A (p.Ser1159Thr) c.*3189T>A (n.*3189T>A) c.3292T>A (p.Ser1098Thr) c.*128T>A (n.*128T>A) c.*136T>A (n.*136T>A) c.*1850T>A (n.*1850T>A) c.3469T>A (p.Ser1157Thr) c.*3299T>A (n.*3299T>A) c.3049T>A (p.Ser1017Thr) c.223T>A (p.Ser75Thr) c.1262T>A (n.1262T>A) c.57T>A c.1125T>A c.2257T>A (p.Ser753Thr) c.3385T>A (p.Ser1129Thr) c.300T>A c.3565T>A (p.Ser1189Thr) c.3232T>A (p.Ser1078Thr) | |
| 7 | g.117627528T>C | CA327208 | CFTR | c.3475T>C (p.Ser1159Pro) c.*3189T>C (n.*3189T>C) c.3292T>C (p.Ser1098Pro) c.*128T>C (n.*128T>C) c.*136T>C (n.*136T>C) c.*1850T>C (n.*1850T>C) c.3469T>C (p.Ser1157Pro) c.*3299T>C (n.*3299T>C) c.3049T>C (p.Ser1017Pro) c.223T>C (p.Ser75Pro) c.1262T>C (n.1262T>C) c.57T>C c.1125T>C c.2257T>C (p.Ser753Pro) c.3385T>C (p.Ser1129Pro) c.300T>C c.3565T>C (p.Ser1189Pro) c.3232T>C (p.Ser1078Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117627528T>G | CA368995938 | CFTR | c.3475T>G (p.Ser1159Ala) c.*3189T>G (n.*3189T>G) c.3292T>G (p.Ser1098Ala) c.*128T>G (n.*128T>G) c.*136T>G (n.*136T>G) c.*1850T>G (n.*1850T>G) c.3469T>G (p.Ser1157Ala) c.*3299T>G (n.*3299T>G) c.3049T>G (p.Ser1017Ala) c.223T>G (p.Ser75Ala) c.1262T>G (n.1262T>G) c.57T>G c.1125T>G c.2257T>G (p.Ser753Ala) c.3385T>G (p.Ser1129Ala) c.300T>G c.3565T>G (p.Ser1189Ala) c.3232T>G (p.Ser1078Ala) | |
| 7 | g.117627528T= | CA1737398603 | CFTR | c.3475T= (p.Ser1159=) c.*3189T= (n.*3189T=) c.3292T= (p.Ser1098=) c.*128T= (n.*128T=) c.*136T= (n.*136T=) c.*1850T= (n.*1850T=) c.3469T= (p.Ser1157=) c.*3299T= (n.*3299T=) c.3049T= (p.Ser1017=) c.223T= (p.Ser75=) c.1262T= (n.1262T=) c.57T= c.1125T= c.2257T= (p.Ser753=) c.3385T= (p.Ser1129=) c.300T= c.3565T= (p.Ser1189=) c.3232T= (p.Ser1078=) | |
| 7 | g.117627529C>A | CA368995941 | CFTR | c.3476C>A (p.Ser1159Tyr) c.*3190C>A (n.*3190C>A) c.3293C>A (p.Ser1098Tyr) c.*129C>A (n.*129C>A) c.*137C>A (n.*137C>A) c.*1851C>A (n.*1851C>A) c.3470C>A (p.Ser1157Tyr) c.*3300C>A (n.*3300C>A) c.3050C>A (p.Ser1017Tyr) c.224C>A (p.Ser75Tyr) c.1263C>A (n.1263C>A) c.58C>A c.1126C>A c.2258C>A (p.Ser753Tyr) c.3386C>A (p.Ser1129Tyr) c.301C>A c.3566C>A (p.Ser1189Tyr) c.3233C>A (p.Ser1078Tyr) | |
| 7 | g.117627529C= | CA1737398604 | CFTR | c.3476C= (p.Ser1159=) c.*3190C= (n.*3190C=) c.3293C= (p.Ser1098=) c.*129C= (n.*129C=) c.*137C= (n.*137C=) c.*1851C= (n.*1851C=) c.3470C= (p.Ser1157=) c.*3300C= (n.*3300C=) c.3050C= (p.Ser1017=) c.224C= (p.Ser75=) c.1263C= (n.1263C=) c.58C= c.1126C= c.2258C= (p.Ser753=) c.3386C= (p.Ser1129=) c.301C= c.3566C= (p.Ser1189=) c.3233C= (p.Ser1078=) | |
| 7 | g.117627529C>G | CA368995944 | CFTR | c.3476C>G (p.Ser1159Cys) c.*3190C>G (n.*3190C>G) c.3293C>G (p.Ser1098Cys) c.*129C>G (n.*129C>G) c.*137C>G (n.*137C>G) c.*1851C>G (n.*1851C>G) c.3470C>G (p.Ser1157Cys) c.*3300C>G (n.*3300C>G) c.3050C>G (p.Ser1017Cys) c.224C>G (p.Ser75Cys) c.1263C>G (n.1263C>G) c.58C>G c.1126C>G c.2258C>G (p.Ser753Cys) c.3386C>G (p.Ser1129Cys) c.301C>G c.3566C>G (p.Ser1189Cys) c.3233C>G (p.Ser1078Cys) | |
| 7 | g.117627529C>T | CA327210 | CFTR | c.3476C>T (p.Ser1159Phe) c.*3190C>T (n.*3190C>T) c.3293C>T (p.Ser1098Phe) c.*129C>T (n.*129C>T) c.*137C>T (n.*137C>T) c.*1851C>T (n.*1851C>T) c.3470C>T (p.Ser1157Phe) c.*3300C>T (n.*3300C>T) c.3050C>T (p.Ser1017Phe) c.224C>T (p.Ser75Phe) c.1263C>T (n.1263C>T) c.58C>T c.1126C>T c.2258C>T (p.Ser753Phe) c.3386C>T (p.Ser1129Phe) c.301C>T c.3566C>T (p.Ser1189Phe) c.3233C>T (p.Ser1078Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627530del | CA2695208374 | CFTR | c.3477del (p.Val1160Ter) c.*3191del (n.*3191del) c.3294del (p.Val1099Ter) c.*130del (n.*130del) c.*138del (n.*138del) c.*1852del (n.*1852del) c.3471del (p.Val1158Ter) c.*3301del (n.*3301del) c.3051del (p.Val1018Ter) c.225del (p.Val76Ter) c.1264del (n.1264del) c.59del c.1127del c.2259del (p.Val754Ter) c.3387del (p.Val1130Ter) c.302del c.3567del (p.Val1190Ter) c.3234del (p.Val1079Ter) | |
| 7 | g.117627530T>A | CA457231144 | CFTR | c.3477T>A (p.Ser1159=) c.*3191T>A (n.*3191T>A) c.3294T>A (p.Ser1098=) c.*130T>A (n.*130T>A) c.*138T>A (n.*138T>A) c.*1852T>A (n.*1852T>A) c.3471T>A (p.Ser1157=) c.*3301T>A (n.*3301T>A) c.3051T>A (p.Ser1017=) c.225T>A (p.Ser75=) c.1264T>A (n.1264T>A) c.59T>A c.1127T>A c.2259T>A (p.Ser753=) c.3387T>A (p.Ser1129=) c.302T>A c.3567T>A (p.Ser1189=) c.3234T>A (p.Ser1078=) | |
| 7 | g.117627530T>C | CA457231145 | CFTR | c.3477T>C (p.Ser1159=) c.*3191T>C (n.*3191T>C) c.3294T>C (p.Ser1098=) c.*130T>C (n.*130T>C) c.*138T>C (n.*138T>C) c.*1852T>C (n.*1852T>C) c.3471T>C (p.Ser1157=) c.*3301T>C (n.*3301T>C) c.3051T>C (p.Ser1017=) c.225T>C (p.Ser75=) c.1264T>C (n.1264T>C) c.59T>C c.1127T>C c.2259T>C (p.Ser753=) c.3387T>C (p.Ser1129=) c.302T>C c.3567T>C (p.Ser1189=) c.3234T>C (p.Ser1078=) | |
| 7 | g.117627530T>G | CA457231147 | CFTR | c.3477T>G (p.Ser1159=) c.*3191T>G (n.*3191T>G) c.3294T>G (p.Ser1098=) c.*130T>G (n.*130T>G) c.*138T>G (n.*138T>G) c.*1852T>G (n.*1852T>G) c.3471T>G (p.Ser1157=) c.*3301T>G (n.*3301T>G) c.3051T>G (p.Ser1017=) c.225T>G (p.Ser75=) c.1264T>G (n.1264T>G) c.59T>G c.1127T>G c.2259T>G (p.Ser753=) c.3387T>G (p.Ser1129=) c.302T>G c.3567T>G (p.Ser1189=) c.3234T>G (p.Ser1078=) | |
| 7 | g.117627531G>A | CA368995948 | CFTR | c.3478G>A (p.Val1160Met) c.*3192G>A (n.*3192G>A) c.3295G>A (p.Val1099Met) c.*131G>A (n.*131G>A) c.*139G>A (n.*139G>A) c.*1853G>A (n.*1853G>A) c.3472G>A (p.Val1158Met) c.*3302G>A (n.*3302G>A) c.3052G>A (p.Val1018Met) c.226G>A (p.Val76Met) c.1265G>A (n.1265G>A) c.60G>A c.1128G>A c.2260G>A (p.Val754Met) c.3388G>A (p.Val1130Met) c.303G>A c.3568G>A (p.Val1190Met) c.3235G>A (p.Val1079Met) | |
| 7 | g.117627531G>C | CA368995962 | CFTR | c.3478G>C (p.Val1160Leu) c.*3192G>C (n.*3192G>C) c.3295G>C (p.Val1099Leu) c.*131G>C (n.*131G>C) c.*139G>C (n.*139G>C) c.*1853G>C (n.*1853G>C) c.3472G>C (p.Val1158Leu) c.*3302G>C (n.*3302G>C) c.3052G>C (p.Val1018Leu) c.226G>C (p.Val76Leu) c.1265G>C (n.1265G>C) c.60G>C c.1128G>C c.2260G>C (p.Val754Leu) c.3388G>C (p.Val1130Leu) c.303G>C c.3568G>C (p.Val1190Leu) c.3235G>C (p.Val1079Leu) | |
| 7 | g.117627531G>T | CA368995951 | CFTR | c.3478G>T (p.Val1160Leu) c.*3192G>T (n.*3192G>T) c.3295G>T (p.Val1099Leu) c.*131G>T (n.*131G>T) c.*139G>T (n.*139G>T) c.*1853G>T (n.*1853G>T) c.3472G>T (p.Val1158Leu) c.*3302G>T (n.*3302G>T) c.3052G>T (p.Val1018Leu) c.226G>T (p.Val76Leu) c.1265G>T (n.1265G>T) c.60G>T c.1128G>T c.2260G>T (p.Val754Leu) c.3388G>T (p.Val1130Leu) c.303G>T c.3568G>T (p.Val1190Leu) c.3235G>T (p.Val1079Leu) | |
| 7 | g.117627532T>A | CA368995967 | CFTR | c.3479T>A (p.Val1160Glu) c.*3193T>A (n.*3193T>A) c.3296T>A (p.Val1099Glu) c.*132T>A (n.*132T>A) c.*140T>A (n.*140T>A) c.*1854T>A (n.*1854T>A) c.3473T>A (p.Val1158Glu) c.*3303T>A (n.*3303T>A) c.3053T>A (p.Val1018Glu) c.227T>A (p.Val76Glu) c.1266T>A (n.1266T>A) c.61T>A c.1129T>A c.2261T>A (p.Val754Glu) c.3389T>A (p.Val1130Glu) c.304T>A c.3569T>A (p.Val1190Glu) c.3236T>A (p.Val1079Glu) | |
| 7 | g.117627532T>C | CA368995970 | CFTR | c.3479T>C (p.Val1160Ala) c.*3193T>C (n.*3193T>C) c.3296T>C (p.Val1099Ala) c.*132T>C (n.*132T>C) c.*140T>C (n.*140T>C) c.*1854T>C (n.*1854T>C) c.3473T>C (p.Val1158Ala) c.*3303T>C (n.*3303T>C) c.3053T>C (p.Val1018Ala) c.227T>C (p.Val76Ala) c.1266T>C (n.1266T>C) c.61T>C c.1129T>C c.2261T>C (p.Val754Ala) c.3389T>C (p.Val1130Ala) c.304T>C c.3569T>C (p.Val1190Ala) c.3236T>C (p.Val1079Ala) | |
| 7 | g.117627532T>G | CA368995972 | CFTR | c.3479T>G (p.Val1160Gly) c.*3193T>G (n.*3193T>G) c.3296T>G (p.Val1099Gly) c.*132T>G (n.*132T>G) c.*140T>G (n.*140T>G) c.*1854T>G (n.*1854T>G) c.3473T>G (p.Val1158Gly) c.*3303T>G (n.*3303T>G) c.3053T>G (p.Val1018Gly) c.227T>G (p.Val76Gly) c.1266T>G (n.1266T>G) c.61T>G c.1129T>G c.2261T>G (p.Val754Gly) c.3389T>G (p.Val1130Gly) c.304T>G c.3569T>G (p.Val1190Gly) c.3236T>G (p.Val1079Gly) | |
| 7 | g.117627533G>A | CA457231151 | CFTR | c.3480G>A (p.Val1160=) c.*3194G>A (n.*3194G>A) c.3297G>A (p.Val1099=) c.*133G>A (n.*133G>A) c.*141G>A (n.*141G>A) c.*1855G>A (n.*1855G>A) c.3474G>A (p.Val1158=) c.*3304G>A (n.*3304G>A) c.3054G>A (p.Val1018=) c.228G>A (p.Val76=) c.1267G>A (n.1267G>A) c.62G>A c.1130G>A c.2262G>A (p.Val754=) c.3390G>A (p.Val1130=) c.305G>A c.3570G>A (p.Val1190=) c.3237G>A (p.Val1079=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627533G>C | CA457231152 | CFTR | c.3480G>C (p.Val1160=) c.*3194G>C (n.*3194G>C) c.3297G>C (p.Val1099=) c.*133G>C (n.*133G>C) c.*141G>C (n.*141G>C) c.*1855G>C (n.*1855G>C) c.3474G>C (p.Val1158=) c.*3304G>C (n.*3304G>C) c.3054G>C (p.Val1018=) c.228G>C (p.Val76=) c.1267G>C (n.1267G>C) c.62G>C c.1130G>C c.2262G>C (p.Val754=) c.3390G>C (p.Val1130=) c.305G>C c.3570G>C (p.Val1190=) c.3237G>C (p.Val1079=) | |
| 7 | g.117627533G= | CA1737398605 | CFTR | c.3480G= (p.Val1160=) c.*3194G= (n.*3194G=) c.3297G= (p.Val1099=) c.*133G= (n.*133G=) c.*141G= (n.*141G=) c.*1855G= (n.*1855G=) c.3474G= (p.Val1158=) c.*3304G= (n.*3304G=) c.3054G= (p.Val1018=) c.228G= (p.Val76=) c.1267G= (n.1267G=) c.62G= c.1130G= c.2262G= (p.Val754=) c.3390G= (p.Val1130=) c.305G= c.3570G= (p.Val1190=) c.3237G= (p.Val1079=) | |
| 7 | g.117627533G>T | CA457231153 | CFTR | c.3480G>T (p.Val1160=) c.*3194G>T (n.*3194G>T) c.3297G>T (p.Val1099=) c.*133G>T (n.*133G>T) c.*141G>T (n.*141G>T) c.*1855G>T (n.*1855G>T) c.3474G>T (p.Val1158=) c.*3304G>T (n.*3304G>T) c.3054G>T (p.Val1018=) c.228G>T (p.Val76=) c.1267G>T (n.1267G>T) c.62G>T c.1130G>T c.2262G>T (p.Val754=) c.3390G>T (p.Val1130=) c.305G>T c.3570G>T (p.Val1190=) c.3237G>T (p.Val1079=) | |
| 7 | g.117627534A= | CA1737398606 | CFTR | c.3481A= (p.Ser1161=) c.*3195A= (n.*3195A=) c.3298A= (p.Ser1100=) c.*134A= (n.*134A=) c.*142A= (n.*142A=) c.*1856A= (n.*1856A=) c.3475A= (p.Ser1159=) c.*3305A= (n.*3305A=) c.3055A= (p.Ser1019=) c.229A= (p.Ser77=) c.1268A= (n.1268A=) c.63A= c.1131A= c.2263A= (p.Ser755=) c.3391A= (p.Ser1131=) c.306A= c.3571A= (p.Ser1191=) c.3238A= (p.Ser1080=) | |
| 7 | g.117627534A>C | CA327212 | CFTR | c.3481A>C (p.Ser1161Arg) c.*3195A>C (n.*3195A>C) c.3298A>C (p.Ser1100Arg) c.*134A>C (n.*134A>C) c.*142A>C (n.*142A>C) c.*1856A>C (n.*1856A>C) c.3475A>C (p.Ser1159Arg) c.*3305A>C (n.*3305A>C) c.3055A>C (p.Ser1019Arg) c.229A>C (p.Ser77Arg) c.1268A>C (n.1268A>C) c.63A>C c.1131A>C c.2263A>C (p.Ser755Arg) c.3391A>C (p.Ser1131Arg) c.306A>C c.3571A>C (p.Ser1191Arg) c.3238A>C (p.Ser1080Arg) | ClinVar dbSNP |
| 7 | g.117627534A>G | CA368995977 | CFTR | c.3481A>G (p.Ser1161Gly) c.*3195A>G (n.*3195A>G) c.3298A>G (p.Ser1100Gly) c.*134A>G (n.*134A>G) c.*142A>G (n.*142A>G) c.*1856A>G (n.*1856A>G) c.3475A>G (p.Ser1159Gly) c.*3305A>G (n.*3305A>G) c.3055A>G (p.Ser1019Gly) c.229A>G (p.Ser77Gly) c.1268A>G (n.1268A>G) c.63A>G c.1131A>G c.2263A>G (p.Ser755Gly) c.3391A>G (p.Ser1131Gly) c.306A>G c.3571A>G (p.Ser1191Gly) c.3238A>G (p.Ser1080Gly) | ClinVar |
| 7 | g.117627534A>T | CA368995980 | CFTR | c.3481A>T (p.Ser1161Cys) c.*3195A>T (n.*3195A>T) c.3298A>T (p.Ser1100Cys) c.*134A>T (n.*134A>T) c.*142A>T (n.*142A>T) c.*1856A>T (n.*1856A>T) c.3475A>T (p.Ser1159Cys) c.*3305A>T (n.*3305A>T) c.3055A>T (p.Ser1019Cys) c.229A>T (p.Ser77Cys) c.1268A>T (n.1268A>T) c.63A>T c.1131A>T c.2263A>T (p.Ser755Cys) c.3391A>T (p.Ser1131Cys) c.306A>T c.3571A>T (p.Ser1191Cys) c.3238A>T (p.Ser1080Cys) | |
| 7 | g.117627535G>A | CA368995983 | CFTR | c.3482G>A (p.Ser1161Asn) c.*3196G>A (n.*3196G>A) c.3299G>A (p.Ser1100Asn) c.*135G>A (n.*135G>A) c.*143G>A (n.*143G>A) c.*1857G>A (n.*1857G>A) c.3476G>A (p.Ser1159Asn) c.*3306G>A (n.*3306G>A) c.3056G>A (p.Ser1019Asn) c.230G>A (p.Ser77Asn) c.1269G>A (n.1269G>A) c.64G>A c.1132G>A c.2264G>A (p.Ser755Asn) c.3392G>A (p.Ser1131Asn) c.307G>A c.3572G>A (p.Ser1191Asn) c.3239G>A (p.Ser1080Asn) | |
| 7 | g.117627535G>C | CA368995993 | CFTR | c.3482G>C (p.Ser1161Thr) c.*3196G>C (n.*3196G>C) c.3299G>C (p.Ser1100Thr) c.*135G>C (n.*135G>C) c.*143G>C (n.*143G>C) c.*1857G>C (n.*1857G>C) c.3476G>C (p.Ser1159Thr) c.*3306G>C (n.*3306G>C) c.3056G>C (p.Ser1019Thr) c.230G>C (p.Ser77Thr) c.1269G>C (n.1269G>C) c.64G>C c.1132G>C c.2264G>C (p.Ser755Thr) c.3392G>C (p.Ser1131Thr) c.307G>C c.3572G>C (p.Ser1191Thr) c.3239G>C (p.Ser1080Thr) | |
| 7 | g.117627535G= | CA1737398607 | CFTR | c.3482G= (p.Ser1161=) c.*3196G= (n.*3196G=) c.3299G= (p.Ser1100=) c.*135G= (n.*135G=) c.*143G= (n.*143G=) c.*1857G= (n.*1857G=) c.3476G= (p.Ser1159=) c.*3306G= (n.*3306G=) c.3056G= (p.Ser1019=) c.230G= (p.Ser77=) c.1269G= (n.1269G=) c.64G= c.1132G= c.2264G= (p.Ser755=) c.3392G= (p.Ser1131=) c.307G= c.3572G= (p.Ser1191=) c.3239G= (p.Ser1080=) | |
| 7 | g.117627535G>T | CA164976434 | CFTR | c.3482G>T (p.Ser1161Ile) c.*3196G>T (n.*3196G>T) c.3299G>T (p.Ser1100Ile) c.*135G>T (n.*135G>T) c.*143G>T (n.*143G>T) c.*1857G>T (n.*1857G>T) c.3476G>T (p.Ser1159Ile) c.*3306G>T (n.*3306G>T) c.3056G>T (p.Ser1019Ile) c.230G>T (p.Ser77Ile) c.1269G>T (n.1269G>T) c.64G>T c.1132G>T c.2264G>T (p.Ser755Ile) c.3392G>T (p.Ser1131Ile) c.307G>T c.3572G>T (p.Ser1191Ile) c.3239G>T (p.Ser1080Ile) | dbSNP |
| 7 | g.117627536C>A | CA368995997 | CFTR | c.3483C>A (p.Ser1161Arg) c.*3197C>A (n.*3197C>A) c.3300C>A (p.Ser1100Arg) c.*136C>A (n.*136C>A) c.*144C>A (n.*144C>A) c.*1858C>A (n.*1858C>A) c.3477C>A (p.Ser1159Arg) c.*3307C>A (n.*3307C>A) c.3057C>A (p.Ser1019Arg) c.231C>A (p.Ser77Arg) c.1270C>A (n.1270C>A) c.65C>A c.1133C>A c.2265C>A (p.Ser755Arg) c.3393C>A (p.Ser1131Arg) c.308C>A c.3573C>A (p.Ser1191Arg) c.3240C>A (p.Ser1080Arg) | |
| 7 | g.117627536C>G | CA368995999 | CFTR | c.3483C>G (p.Ser1161Arg) c.*3197C>G (n.*3197C>G) c.3300C>G (p.Ser1100Arg) c.*136C>G (n.*136C>G) c.*144C>G (n.*144C>G) c.*1858C>G (n.*1858C>G) c.3477C>G (p.Ser1159Arg) c.*3307C>G (n.*3307C>G) c.3057C>G (p.Ser1019Arg) c.231C>G (p.Ser77Arg) c.1270C>G (n.1270C>G) c.65C>G c.1133C>G c.2265C>G (p.Ser755Arg) c.3393C>G (p.Ser1131Arg) c.308C>G c.3573C>G (p.Ser1191Arg) c.3240C>G (p.Ser1080Arg) | |
| 7 | g.117627536C>T | CA457231155 | CFTR | c.3483C>T (p.Ser1161=) c.*3197C>T (n.*3197C>T) c.3300C>T (p.Ser1100=) c.*136C>T (n.*136C>T) c.*144C>T (n.*144C>T) c.*1858C>T (n.*1858C>T) c.3477C>T (p.Ser1159=) c.*3307C>T (n.*3307C>T) c.3057C>T (p.Ser1019=) c.231C>T (p.Ser77=) c.1270C>T (n.1270C>T) c.65C>T c.1133C>T c.2265C>T (p.Ser755=) c.3393C>T (p.Ser1131=) c.308C>T c.3573C>T (p.Ser1191=) c.3240C>T (p.Ser1080=) | |
| 7 | g.117627537C>A | CA457231156 | CFTR | c.3484C>A (p.Arg1162=) c.*3198C>A (n.*3198C>A) c.3301C>A (p.Arg1101=) c.*137C>A (n.*137C>A) c.*145C>A (n.*145C>A) c.*1859C>A (n.*1859C>A) c.3478C>A (p.Arg1160=) c.*3308C>A (n.*3308C>A) c.3058C>A (p.Arg1020=) c.232C>A (p.Arg78=) c.1271C>A (n.1271C>A) c.66C>A c.1134C>A c.2266C>A (p.Arg756=) c.3394C>A (p.Arg1132=) c.309C>A c.3574C>A (p.Arg1192=) c.3241C>A (p.Arg1081=) | |
| 7 | g.117627537C= | CA1737398608 | CFTR | c.3484C= (p.Arg1162=) c.*3198C= (n.*3198C=) c.3301C= (p.Arg1101=) c.*137C= (n.*137C=) c.*145C= (n.*145C=) c.*1859C= (n.*1859C=) c.3478C= (p.Arg1160=) c.*3308C= (n.*3308C=) c.3058C= (p.Arg1020=) c.232C= (p.Arg78=) c.1271C= (n.1271C=) c.66C= c.1134C= c.2266C= (p.Arg756=) c.3394C= (p.Arg1132=) c.309C= c.3574C= (p.Arg1192=) c.3241C= (p.Arg1081=) |