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.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=) | |
| 7 | g.117627537C>G | CA368996002 | CFTR | c.3484C>G (p.Arg1162Gly) c.*3198C>G (n.*3198C>G) c.3301C>G (p.Arg1101Gly) c.*137C>G (n.*137C>G) c.*145C>G (n.*145C>G) c.*1859C>G (n.*1859C>G) c.3478C>G (p.Arg1160Gly) c.*3308C>G (n.*3308C>G) c.3058C>G (p.Arg1020Gly) c.232C>G (p.Arg78Gly) c.1271C>G (n.1271C>G) c.66C>G c.1134C>G c.2266C>G (p.Arg756Gly) c.3394C>G (p.Arg1132Gly) c.309C>G c.3574C>G (p.Arg1192Gly) c.3241C>G (p.Arg1081Gly) | |
| 7 | g.117627537C>T | CA340642 | CFTR | c.3484C>T (p.Arg1162Ter) c.*3198C>T (n.*3198C>T) c.3301C>T (p.Arg1101Ter) c.*137C>T (n.*137C>T) c.*145C>T (n.*145C>T) c.*1859C>T (n.*1859C>T) c.3478C>T (p.Arg1160Ter) c.*3308C>T (n.*3308C>T) c.3058C>T (p.Arg1020Ter) c.232C>T (p.Arg78Ter) c.1271C>T (n.1271C>T) c.66C>T c.1134C>T c.2266C>T (p.Arg756Ter) c.3394C>T (p.Arg1132Ter) c.309C>T c.3574C>T (p.Arg1192Ter) c.3241C>T (p.Arg1081Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627537_117627539delinsCGA | CA1737398609 | CFTR | c.3484_3486delinsCGA (p.Arg1162=) c.*3198_*3200delinsCGA (n.*3198_*3200delinsCGA) c.3301_3303delinsCGA (p.Arg1101=) c.*137_*139delinsCGA (n.*137_*139delinsCGA) c.*145_*147delinsCGA (n.*145_*147delinsCGA) c.*1859_*1861delinsCGA (n.*1859_*1861delinsCGA) c.3478_3480delinsCGA (p.Arg1160=) c.*3308_*3310delinsCGA (n.*3308_*3310delinsCGA) c.3058_3060delinsCGA (p.Arg1020=) c.232_234delinsCGA (p.Arg78=) c.1271_1273delinsCGA (n.1271_1273delinsCGA) c.66_68delinsCGA c.1134_1136delinsCGA c.2266_2268delinsCGA (p.Arg756=) c.3394_3396delinsCGA (p.Arg1132=) c.309_311delinsCGA c.3574_3576delinsCGA (p.Arg1192=) c.3241_3243delinsCGA (p.Arg1081=) | |
| 7 | g.117627538G>A | CA4451485 | CFTR | c.3485G>A (p.Arg1162Gln) c.*3199G>A (n.*3199G>A) c.3302G>A (p.Arg1101Gln) c.*138G>A (n.*138G>A) c.*146G>A (n.*146G>A) c.*1860G>A (n.*1860G>A) c.3479G>A (p.Arg1160Gln) c.*3309G>A (n.*3309G>A) c.3059G>A (p.Arg1020Gln) c.233G>A (p.Arg78Gln) c.1272G>A (n.1272G>A) c.67G>A c.1135G>A c.2267G>A (p.Arg756Gln) c.3395G>A (p.Arg1132Gln) c.310G>A c.3575G>A (p.Arg1192Gln) c.3242G>A (p.Arg1081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627538G>C | CA164976465 | CFTR | c.3485G>C (p.Arg1162Pro) c.*3199G>C (n.*3199G>C) c.3302G>C (p.Arg1101Pro) c.*138G>C (n.*138G>C) c.*146G>C (n.*146G>C) c.*1860G>C (n.*1860G>C) c.3479G>C (p.Arg1160Pro) c.*3309G>C (n.*3309G>C) c.3059G>C (p.Arg1020Pro) c.233G>C (p.Arg78Pro) c.1272G>C (n.1272G>C) c.67G>C c.1135G>C c.2267G>C (p.Arg756Pro) c.3395G>C (p.Arg1132Pro) c.310G>C c.3575G>C (p.Arg1192Pro) c.3242G>C (p.Arg1081Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627538G= | CA1737398610 | CFTR | c.3485G= (p.Arg1162=) c.*3199G= (n.*3199G=) c.3302G= (p.Arg1101=) c.*138G= (n.*138G=) c.*146G= (n.*146G=) c.*1860G= (n.*1860G=) c.3479G= (p.Arg1160=) c.*3309G= (n.*3309G=) c.3059G= (p.Arg1020=) c.233G= (p.Arg78=) c.1272G= (n.1272G=) c.67G= c.1135G= c.2267G= (p.Arg756=) c.3395G= (p.Arg1132=) c.310G= c.3575G= (p.Arg1192=) c.3242G= (p.Arg1081=) | |
| 7 | g.117627538G>T | CA4451484 | CFTR | c.3485G>T (p.Arg1162Leu) c.*3199G>T (n.*3199G>T) c.3302G>T (p.Arg1101Leu) c.*138G>T (n.*138G>T) c.*146G>T (n.*146G>T) c.*1860G>T (n.*1860G>T) c.3479G>T (p.Arg1160Leu) c.*3309G>T (n.*3309G>T) c.3059G>T (p.Arg1020Leu) c.233G>T (p.Arg78Leu) c.1272G>T (n.1272G>T) c.67G>T c.1135G>T c.2267G>T (p.Arg756Leu) c.3395G>T (p.Arg1132Leu) c.310G>T c.3575G>T (p.Arg1192Leu) c.3242G>T (p.Arg1081Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627539_117627540del | CA327214 | CFTR | c.3486_3487del (p.Val1163LeufsTer2) c.*3200_*3201del (n.*3200_*3201del) c.3303_3304del (p.Val1102LeufsTer2) c.*139_*140del (n.*139_*140del) c.*147_*148del (n.*147_*148del) c.*1861_*1862del (n.*1861_*1862del) c.3480_3481del (p.Val1161LeufsTer2) c.*3310_*3311del (n.*3310_*3311del) c.3060_3061del (p.Val1021LeufsTer2) c.234_235del (p.Val79LeufsTer2) c.1273_1274del (n.1273_1274del) c.68_69del c.1136_1137del c.2268_2269del (p.Val757LeufsTer2) c.3396_3397del (p.Val1133LeufsTer2) c.311_312del c.3576_3577del (p.Val1193LeufsTer2) c.3243_3244del (p.Val1082LeufsTer2) | ClinVar dbSNP |
| 7 | g.117627539A>C | CA457231160 | CFTR | c.3486A>C (p.Arg1162=) c.*3200A>C (n.*3200A>C) c.3303A>C (p.Arg1101=) c.*139A>C (n.*139A>C) c.*147A>C (n.*147A>C) c.*1861A>C (n.*1861A>C) c.3480A>C (p.Arg1160=) c.*3310A>C (n.*3310A>C) c.3060A>C (p.Arg1020=) c.234A>C (p.Arg78=) c.1273A>C (n.1273A>C) c.68A>C c.1136A>C c.2268A>C (p.Arg756=) c.3396A>C (p.Arg1132=) c.311A>C c.3576A>C (p.Arg1192=) c.3243A>C (p.Arg1081=) | |
| 7 | g.117627539A>G | CA457231161 | CFTR | c.3486A>G (p.Arg1162=) c.*3200A>G (n.*3200A>G) c.3303A>G (p.Arg1101=) c.*139A>G (n.*139A>G) c.*147A>G (n.*147A>G) c.*1861A>G (n.*1861A>G) c.3480A>G (p.Arg1160=) c.*3310A>G (n.*3310A>G) c.3060A>G (p.Arg1020=) c.234A>G (p.Arg78=) c.1273A>G (n.1273A>G) c.68A>G c.1136A>G c.2268A>G (p.Arg756=) c.3396A>G (p.Arg1132=) c.311A>G c.3576A>G (p.Arg1192=) c.3243A>G (p.Arg1081=) | |
| 7 | g.117627539A>T | CA457231162 | CFTR | c.3486A>T (p.Arg1162=) c.*3200A>T (n.*3200A>T) c.3303A>T (p.Arg1101=) c.*139A>T (n.*139A>T) c.*147A>T (n.*147A>T) c.*1861A>T (n.*1861A>T) c.3480A>T (p.Arg1160=) c.*3310A>T (n.*3310A>T) c.3060A>T (p.Arg1020=) c.234A>T (p.Arg78=) c.1273A>T (n.1273A>T) c.68A>T c.1136A>T c.2268A>T (p.Arg756=) c.3396A>T (p.Arg1132=) c.311A>T c.3576A>T (p.Arg1192=) c.3243A>T (p.Arg1081=) | |
| 7 | g.117627540G>A | CA368996015 | CFTR | c.3487G>A (p.Val1163Ile) c.*3201G>A (n.*3201G>A) c.3304G>A (p.Val1102Ile) c.*140G>A (n.*140G>A) c.*148G>A (n.*148G>A) c.*1862G>A (n.*1862G>A) c.3481G>A (p.Val1161Ile) c.*3311G>A (n.*3311G>A) c.3061G>A (p.Val1021Ile) c.235G>A (p.Val79Ile) c.1274G>A (n.1274G>A) c.69G>A c.1137G>A c.2269G>A (p.Val757Ile) c.3397G>A (p.Val1133Ile) c.312G>A c.3577G>A (p.Val1193Ile) c.3244G>A (p.Val1082Ile) | ClinVar |
| 7 | g.117627540G>C | CA368996018 | CFTR | c.3487G>C (p.Val1163Leu) c.*3201G>C (n.*3201G>C) c.3304G>C (p.Val1102Leu) c.*140G>C (n.*140G>C) c.*148G>C (n.*148G>C) c.*1862G>C (n.*1862G>C) c.3481G>C (p.Val1161Leu) c.*3311G>C (n.*3311G>C) c.3061G>C (p.Val1021Leu) c.235G>C (p.Val79Leu) c.1274G>C (n.1274G>C) c.69G>C c.1137G>C c.2269G>C (p.Val757Leu) c.3397G>C (p.Val1133Leu) c.312G>C c.3577G>C (p.Val1193Leu) c.3244G>C (p.Val1082Leu) | |
| 7 | g.117627540G>T | CA368996020 | CFTR | c.3487G>T (p.Val1163Phe) c.*3201G>T (n.*3201G>T) c.3304G>T (p.Val1102Phe) c.*140G>T (n.*140G>T) c.*148G>T (n.*148G>T) c.*1862G>T (n.*1862G>T) c.3481G>T (p.Val1161Phe) c.*3311G>T (n.*3311G>T) c.3061G>T (p.Val1021Phe) c.235G>T (p.Val79Phe) c.1274G>T (n.1274G>T) c.69G>T c.1137G>T c.2269G>T (p.Val757Phe) c.3397G>T (p.Val1133Phe) c.312G>T c.3577G>T (p.Val1193Phe) c.3244G>T (p.Val1082Phe) | |
| 7 | g.117627541T>A | CA368996023 | CFTR | c.3488T>A (p.Val1163Asp) c.*3202T>A (n.*3202T>A) c.3305T>A (p.Val1102Asp) c.*141T>A (n.*141T>A) c.*149T>A (n.*149T>A) c.*1863T>A (n.*1863T>A) c.3482T>A (p.Val1161Asp) c.*3312T>A (n.*3312T>A) c.3062T>A (p.Val1021Asp) c.236T>A (p.Val79Asp) c.1275T>A (n.1275T>A) c.70T>A c.1138T>A c.2270T>A (p.Val757Asp) c.3398T>A (p.Val1133Asp) c.313T>A c.3578T>A (p.Val1193Asp) c.3245T>A (p.Val1082Asp) |