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.117627550del | CA2695208375 | CFTR | c.3497del (p.Phe1166SerfsTer?) c.*3211del (n.*3211del) c.3314del (p.Phe1105SerfsTer26) c.3497del (p.Phe1166SerfsTer26) c.*150del (n.*150del) c.*158del (n.*158del) c.*1872del (n.*1872del) c.3491del (p.Phe1164SerfsTer26) c.*3321del (n.*3321del) c.3071del (p.Phe1024SerfsTer26) c.245del (p.Phe82SerfsTer26) c.1284del (n.1284del) c.79del c.1147del c.2279del (p.Phe760SerfsTer26) c.3407del (p.Phe1136SerfsTer26) c.322del c.3587del (p.Phe1196SerfsTer26) c.3254del (p.Phe1085SerfsTer26) | |
| 7 | g.117627550T>A | CA368996086 | CFTR | c.3497T>A (p.Phe1166Tyr) c.*3211T>A (n.*3211T>A) c.3314T>A (p.Phe1105Tyr) c.*150T>A (n.*150T>A) c.*158T>A (n.*158T>A) c.*1872T>A (n.*1872T>A) c.3491T>A (p.Phe1164Tyr) c.*3321T>A (n.*3321T>A) c.3071T>A (p.Phe1024Tyr) c.245T>A (p.Phe82Tyr) c.1284T>A (n.1284T>A) c.79T>A c.1147T>A c.2279T>A (p.Phe760Tyr) c.3407T>A (p.Phe1136Tyr) c.322T>A c.3587T>A (p.Phe1196Tyr) c.3254T>A (p.Phe1085Tyr) | |
| 7 | g.117627550T>C | CA368996082 | CFTR | c.3497T>C (p.Phe1166Ser) c.*3211T>C (n.*3211T>C) c.3314T>C (p.Phe1105Ser) c.*150T>C (n.*150T>C) c.*158T>C (n.*158T>C) c.*1872T>C (n.*1872T>C) c.3491T>C (p.Phe1164Ser) c.*3321T>C (n.*3321T>C) c.3071T>C (p.Phe1024Ser) c.245T>C (p.Phe82Ser) c.1284T>C (n.1284T>C) c.79T>C c.1147T>C c.2279T>C (p.Phe760Ser) c.3407T>C (p.Phe1136Ser) c.322T>C c.3587T>C (p.Phe1196Ser) c.3254T>C (p.Phe1085Ser) | |
| 7 | g.117627550T>G | CA327215 | CFTR | c.3497T>G (p.Phe1166Cys) c.*3211T>G (n.*3211T>G) c.3314T>G (p.Phe1105Cys) c.*150T>G (n.*150T>G) c.*158T>G (n.*158T>G) c.*1872T>G (n.*1872T>G) c.3491T>G (p.Phe1164Cys) c.*3321T>G (n.*3321T>G) c.3071T>G (p.Phe1024Cys) c.245T>G (p.Phe82Cys) c.1284T>G (n.1284T>G) c.79T>G c.1147T>G c.2279T>G (p.Phe760Cys) c.3407T>G (p.Phe1136Cys) c.322T>G c.3587T>G (p.Phe1196Cys) c.3254T>G (p.Phe1085Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627550T= | CA1737398617 | CFTR | c.3497T= (p.Phe1166=) c.*3211T= (n.*3211T=) c.3314T= (p.Phe1105=) c.*150T= (n.*150T=) c.*158T= (n.*158T=) c.*1872T= (n.*1872T=) c.3491T= (p.Phe1164=) c.*3321T= (n.*3321T=) c.3071T= (p.Phe1024=) c.245T= (p.Phe82=) c.1284T= (n.1284T=) c.79T= c.1147T= c.2279T= (p.Phe760=) c.3407T= (p.Phe1136=) c.322T= c.3587T= (p.Phe1196=) c.3254T= (p.Phe1085=) | |
| 7 | g.117627551C>A | CA368996090 | CFTR | c.3498C>A (p.Phe1166Leu) c.*3212C>A (n.*3212C>A) c.3315C>A (p.Phe1105Leu) c.*151C>A (n.*151C>A) c.*159C>A (n.*159C>A) c.*1873C>A (n.*1873C>A) c.3492C>A (p.Phe1164Leu) c.*3322C>A (n.*3322C>A) c.3072C>A (p.Phe1024Leu) c.246C>A (p.Phe82Leu) c.1285C>A (n.1285C>A) c.80C>A c.1148C>A c.2280C>A (p.Phe760Leu) c.3408C>A (p.Phe1136Leu) c.323C>A c.3588C>A (p.Phe1196Leu) c.3255C>A (p.Phe1085Leu) | gnomAD v4 |
| 7 | g.117627551C= | CA1737398618 | CFTR | c.3498C= (p.Phe1166=) c.*3212C= (n.*3212C=) c.3315C= (p.Phe1105=) c.*151C= (n.*151C=) c.*159C= (n.*159C=) c.*1873C= (n.*1873C=) c.3492C= (p.Phe1164=) c.*3322C= (n.*3322C=) c.3072C= (p.Phe1024=) c.246C= (p.Phe82=) c.1285C= (n.1285C=) c.80C= c.1148C= c.2280C= (p.Phe760=) c.3408C= (p.Phe1136=) c.323C= c.3588C= (p.Phe1196=) c.3255C= (p.Phe1085=) | |
| 7 | g.117627551C>G | CA368996092 | CFTR | c.3498C>G (p.Phe1166Leu) c.*3212C>G (n.*3212C>G) c.3315C>G (p.Phe1105Leu) c.*151C>G (n.*151C>G) c.*159C>G (n.*159C>G) c.*1873C>G (n.*1873C>G) c.3492C>G (p.Phe1164Leu) c.*3322C>G (n.*3322C>G) c.3072C>G (p.Phe1024Leu) c.246C>G (p.Phe82Leu) c.1285C>G (n.1285C>G) c.80C>G c.1148C>G c.2280C>G (p.Phe760Leu) c.3408C>G (p.Phe1136Leu) c.323C>G c.3588C>G (p.Phe1196Leu) c.3255C>G (p.Phe1085Leu) | ClinVar dbSNP |
| 7 | g.117627551C>T | CA457231172 | CFTR | c.3498C>T (p.Phe1166=) c.*3212C>T (n.*3212C>T) c.3315C>T (p.Phe1105=) c.*151C>T (n.*151C>T) c.*159C>T (n.*159C>T) c.*1873C>T (n.*1873C>T) c.3492C>T (p.Phe1164=) c.*3322C>T (n.*3322C>T) c.3072C>T (p.Phe1024=) c.246C>T (p.Phe82=) c.1285C>T (n.1285C>T) c.80C>T c.1148C>T c.2280C>T (p.Phe760=) c.3408C>T (p.Phe1136=) c.323C>T c.3588C>T (p.Phe1196=) c.3255C>T (p.Phe1085=) | |
| 7 | g.117627552A= | CA1737398619 | CFTR | c.3499A= (p.Ile1167=) c.*3213A= (n.*3213A=) c.3316A= (p.Ile1106=) c.*152A= (n.*152A=) c.*160A= (n.*160A=) c.*1874A= (n.*1874A=) c.3493A= (p.Ile1165=) c.*3323A= (n.*3323A=) c.3073A= (p.Ile1025=) c.247A= (p.Ile83=) c.1286A= (n.1286A=) c.81A= c.1149A= c.2281A= (p.Ile761=) c.3409A= (p.Ile1137=) c.324A= c.3589A= (p.Ile1197=) c.3256A= (p.Ile1086=) | |
| 7 | g.117627552A>C | CA368996096 | CFTR | c.3499A>C (p.Ile1167Leu) c.*3213A>C (n.*3213A>C) c.3316A>C (p.Ile1106Leu) c.*152A>C (n.*152A>C) c.*160A>C (n.*160A>C) c.*1874A>C (n.*1874A>C) c.3493A>C (p.Ile1165Leu) c.*3323A>C (n.*3323A>C) c.3073A>C (p.Ile1025Leu) c.247A>C (p.Ile83Leu) c.1286A>C (n.1286A>C) c.81A>C c.1149A>C c.2281A>C (p.Ile761Leu) c.3409A>C (p.Ile1137Leu) c.324A>C c.3589A>C (p.Ile1197Leu) c.3256A>C (p.Ile1086Leu) | |
| 7 | g.117627552A>G | CA368996097 | CFTR | c.3499A>G (p.Ile1167Val) c.*3213A>G (n.*3213A>G) c.3316A>G (p.Ile1106Val) c.*152A>G (n.*152A>G) c.*160A>G (n.*160A>G) c.*1874A>G (n.*1874A>G) c.3493A>G (p.Ile1165Val) c.*3323A>G (n.*3323A>G) c.3073A>G (p.Ile1025Val) c.247A>G (p.Ile83Val) c.1286A>G (n.1286A>G) c.81A>G c.1149A>G c.2281A>G (p.Ile761Val) c.3409A>G (p.Ile1137Val) c.324A>G c.3589A>G (p.Ile1197Val) c.3256A>G (p.Ile1086Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117627552A>T | CA368996100 | CFTR | c.3499A>T (p.Ile1167Phe) c.*3213A>T (n.*3213A>T) c.3316A>T (p.Ile1106Phe) c.*152A>T (n.*152A>T) c.*160A>T (n.*160A>T) c.*1874A>T (n.*1874A>T) c.3493A>T (p.Ile1165Phe) c.*3323A>T (n.*3323A>T) c.3073A>T (p.Ile1025Phe) c.247A>T (p.Ile83Phe) c.1286A>T (n.1286A>T) c.81A>T c.1149A>T c.2281A>T (p.Ile761Phe) c.3409A>T (p.Ile1137Phe) c.324A>T c.3589A>T (p.Ile1197Phe) c.3256A>T (p.Ile1086Phe) | |
| 7 | g.117627553T>A | CA368996103 | CFTR | c.3500T>A (p.Ile1167Asn) c.*3214T>A (n.*3214T>A) c.3317T>A (p.Ile1106Asn) c.*153T>A (n.*153T>A) c.*161T>A (n.*161T>A) c.*1875T>A (n.*1875T>A) c.3494T>A (p.Ile1165Asn) c.*3324T>A (n.*3324T>A) c.3074T>A (p.Ile1025Asn) c.248T>A (p.Ile83Asn) c.1287T>A (n.1287T>A) c.82T>A c.1150T>A c.2282T>A (p.Ile761Asn) c.3410T>A (p.Ile1137Asn) c.325T>A c.3590T>A (p.Ile1197Asn) c.3257T>A (p.Ile1086Asn) | ClinVar dbSNP |
| 7 | g.117627553T>C | CA368996106 | CFTR | c.3500T>C (p.Ile1167Thr) c.*3214T>C (n.*3214T>C) c.3317T>C (p.Ile1106Thr) c.*153T>C (n.*153T>C) c.*161T>C (n.*161T>C) c.*1875T>C (n.*1875T>C) c.3494T>C (p.Ile1165Thr) c.*3324T>C (n.*3324T>C) c.3074T>C (p.Ile1025Thr) c.248T>C (p.Ile83Thr) c.1287T>C (n.1287T>C) c.82T>C c.1150T>C c.2282T>C (p.Ile761Thr) c.3410T>C (p.Ile1137Thr) c.325T>C c.3590T>C (p.Ile1197Thr) c.3257T>C (p.Ile1086Thr) | |
| 7 | g.117627553T>G | CA368996108 | CFTR | c.3500T>G (p.Ile1167Ser) c.*3214T>G (n.*3214T>G) c.3317T>G (p.Ile1106Ser) c.*153T>G (n.*153T>G) c.*161T>G (n.*161T>G) c.*1875T>G (n.*1875T>G) c.3494T>G (p.Ile1165Ser) c.*3324T>G (n.*3324T>G) c.3074T>G (p.Ile1025Ser) c.248T>G (p.Ile83Ser) c.1287T>G (n.1287T>G) c.82T>G c.1150T>G c.2282T>G (p.Ile761Ser) c.3410T>G (p.Ile1137Ser) c.325T>G c.3590T>G (p.Ile1197Ser) c.3257T>G (p.Ile1086Ser) | |
| 7 | g.117627554T>A | CA457231176 | CFTR | c.3501T>A (p.Ile1167=) c.*3215T>A (n.*3215T>A) c.3318T>A (p.Ile1106=) c.*154T>A (n.*154T>A) c.*162T>A (n.*162T>A) c.*1876T>A (n.*1876T>A) c.3495T>A (p.Ile1165=) c.*3325T>A (n.*3325T>A) c.3075T>A (p.Ile1025=) c.249T>A (p.Ile83=) c.1288T>A (n.1288T>A) c.83T>A c.1151T>A c.2283T>A (p.Ile761=) c.3411T>A (p.Ile1137=) c.326T>A c.3591T>A (p.Ile1197=) c.3258T>A (p.Ile1086=) | |
| 7 | g.117627554T>C | CA457231177 | CFTR | c.3501T>C (p.Ile1167=) c.*3215T>C (n.*3215T>C) c.3318T>C (p.Ile1106=) c.*154T>C (n.*154T>C) c.*162T>C (n.*162T>C) c.*1876T>C (n.*1876T>C) c.3495T>C (p.Ile1165=) c.*3325T>C (n.*3325T>C) c.3075T>C (p.Ile1025=) c.249T>C (p.Ile83=) c.1288T>C (n.1288T>C) c.83T>C c.1151T>C c.2283T>C (p.Ile761=) c.3411T>C (p.Ile1137=) c.326T>C c.3591T>C (p.Ile1197=) c.3258T>C (p.Ile1086=) | |
| 7 | g.117627554T>G | CA368996111 | CFTR | c.3501T>G (p.Ile1167Met) c.*3215T>G (n.*3215T>G) c.3318T>G (p.Ile1106Met) c.*154T>G (n.*154T>G) c.*162T>G (n.*162T>G) c.*1876T>G (n.*1876T>G) c.3495T>G (p.Ile1165Met) c.*3325T>G (n.*3325T>G) c.3075T>G (p.Ile1025Met) c.249T>G (p.Ile83Met) c.1288T>G (n.1288T>G) c.83T>G c.1151T>G c.2283T>G (p.Ile761Met) c.3411T>G (p.Ile1137Met) c.326T>G c.3591T>G (p.Ile1197Met) c.3258T>G (p.Ile1086Met) | |
| 7 | g.117627555G>A | CA368996114 | CFTR | c.3502G>A (p.Asp1168Asn) c.*3216G>A (n.*3216G>A) c.3319G>A (p.Asp1107Asn) c.*155G>A (n.*155G>A) c.*163G>A (n.*163G>A) c.*1877G>A (n.*1877G>A) c.3496G>A (p.Asp1166Asn) c.*3326G>A (n.*3326G>A) c.3076G>A (p.Asp1026Asn) c.250G>A (p.Asp84Asn) c.1289G>A (n.1289G>A) c.84G>A c.1152G>A c.2284G>A (p.Asp762Asn) c.3412G>A (p.Asp1138Asn) c.327G>A c.3592G>A (p.Asp1198Asn) c.3259G>A (p.Asp1087Asn) | |
| 7 | g.117627555G>C | CA368996116 | CFTR | c.3502G>C (p.Asp1168His) c.*3216G>C (n.*3216G>C) c.3319G>C (p.Asp1107His) c.*155G>C (n.*155G>C) c.*163G>C (n.*163G>C) c.*1877G>C (n.*1877G>C) c.3496G>C (p.Asp1166His) c.*3326G>C (n.*3326G>C) c.3076G>C (p.Asp1026His) c.250G>C (p.Asp84His) c.1289G>C (n.1289G>C) c.84G>C c.1152G>C c.2284G>C (p.Asp762His) c.3412G>C (p.Asp1138His) c.327G>C c.3592G>C (p.Asp1198His) c.3259G>C (p.Asp1087His) | |
| 7 | g.117627555G>T | CA368996119 | CFTR | c.3502G>T (p.Asp1168Tyr) c.*3216G>T (n.*3216G>T) c.3319G>T (p.Asp1107Tyr) c.*155G>T (n.*155G>T) c.*163G>T (n.*163G>T) c.*1877G>T (n.*1877G>T) c.3496G>T (p.Asp1166Tyr) c.*3326G>T (n.*3326G>T) c.3076G>T (p.Asp1026Tyr) c.250G>T (p.Asp84Tyr) c.1289G>T (n.1289G>T) c.84G>T c.1152G>T c.2284G>T (p.Asp762Tyr) c.3412G>T (p.Asp1138Tyr) c.327G>T c.3592G>T (p.Asp1198Tyr) c.3259G>T (p.Asp1087Tyr) | gnomAD v4 |
| 7 | g.117627556A= | CA1737398620 | CFTR | c.3503A= (p.Asp1168=) c.*3217A= (n.*3217A=) c.3320A= (p.Asp1107=) c.*156A= (n.*156A=) c.*164A= (n.*164A=) c.*1878A= (n.*1878A=) c.3497A= (p.Asp1166=) c.*3327A= (n.*3327A=) c.3077A= (p.Asp1026=) c.251A= (p.Asp84=) c.1290A= (n.1290A=) c.85A= c.1153A= c.2285A= (p.Asp762=) c.3413A= (p.Asp1138=) c.328A= c.3593A= (p.Asp1198=) c.3260A= (p.Asp1087=) | |
| 7 | g.117627556A>C | CA368996125 | CFTR | c.3503A>C (p.Asp1168Ala) c.*3217A>C (n.*3217A>C) c.3320A>C (p.Asp1107Ala) c.*156A>C (n.*156A>C) c.*164A>C (n.*164A>C) c.*1878A>C (n.*1878A>C) c.3497A>C (p.Asp1166Ala) c.*3327A>C (n.*3327A>C) c.3077A>C (p.Asp1026Ala) c.251A>C (p.Asp84Ala) c.1290A>C (n.1290A>C) c.85A>C c.1153A>C c.2285A>C (p.Asp762Ala) c.3413A>C (p.Asp1138Ala) c.328A>C c.3593A>C (p.Asp1198Ala) c.3260A>C (p.Asp1087Ala) | gnomAD v4 |
| 7 | g.117627556A>G | CA327219 | CFTR | c.3503A>G (p.Asp1168Gly) c.*3217A>G (n.*3217A>G) c.3320A>G (p.Asp1107Gly) c.*156A>G (n.*156A>G) c.*164A>G (n.*164A>G) c.*1878A>G (n.*1878A>G) c.3497A>G (p.Asp1166Gly) c.*3327A>G (n.*3327A>G) c.3077A>G (p.Asp1026Gly) c.251A>G (p.Asp84Gly) c.1290A>G (n.1290A>G) c.85A>G c.1153A>G c.2285A>G (p.Asp762Gly) c.3413A>G (p.Asp1138Gly) c.328A>G c.3593A>G (p.Asp1198Gly) c.3260A>G (p.Asp1087Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627556A>T | CA368996121 | CFTR | c.3503A>T (p.Asp1168Val) c.*3217A>T (n.*3217A>T) c.3320A>T (p.Asp1107Val) c.*156A>T (n.*156A>T) c.*164A>T (n.*164A>T) c.*1878A>T (n.*1878A>T) c.3497A>T (p.Asp1166Val) c.*3327A>T (n.*3327A>T) c.3077A>T (p.Asp1026Val) c.251A>T (p.Asp84Val) c.1290A>T (n.1290A>T) c.85A>T c.1153A>T c.2285A>T (p.Asp762Val) c.3413A>T (p.Asp1138Val) c.328A>T c.3593A>T (p.Asp1198Val) c.3260A>T (p.Asp1087Val) | |
| 7 | g.117627557C>A | CA368996128 | CFTR | c.3504C>A (p.Asp1168Glu) c.*3218C>A (n.*3218C>A) c.3321C>A (p.Asp1107Glu) c.*157C>A (n.*157C>A) c.*165C>A (n.*165C>A) c.*1879C>A (n.*1879C>A) c.3498C>A (p.Asp1166Glu) c.*3328C>A (n.*3328C>A) c.3078C>A (p.Asp1026Glu) c.252C>A (p.Asp84Glu) c.1291C>A (n.1291C>A) c.86C>A c.1154C>A c.2286C>A (p.Asp762Glu) c.3414C>A (p.Asp1138Glu) c.329C>A c.3594C>A (p.Asp1198Glu) c.3261C>A (p.Asp1087Glu) | |
| 7 | g.117627557C>G | CA368996131 | CFTR | c.3504C>G (p.Asp1168Glu) c.*3218C>G (n.*3218C>G) c.3321C>G (p.Asp1107Glu) c.*157C>G (n.*157C>G) c.*165C>G (n.*165C>G) c.*1879C>G (n.*1879C>G) c.3498C>G (p.Asp1166Glu) c.*3328C>G (n.*3328C>G) c.3078C>G (p.Asp1026Glu) c.252C>G (p.Asp84Glu) c.1291C>G (n.1291C>G) c.86C>G c.1154C>G c.2286C>G (p.Asp762Glu) c.3414C>G (p.Asp1138Glu) c.329C>G c.3594C>G (p.Asp1198Glu) c.3261C>G (p.Asp1087Glu) | |
| 7 | g.117627557C>T | CA457231179 | CFTR | c.3504C>T (p.Asp1168=) c.*3218C>T (n.*3218C>T) c.3321C>T (p.Asp1107=) c.*157C>T (n.*157C>T) c.*165C>T (n.*165C>T) c.*1879C>T (n.*1879C>T) c.3498C>T (p.Asp1166=) c.*3328C>T (n.*3328C>T) c.3078C>T (p.Asp1026=) c.252C>T (p.Asp84=) c.1291C>T (n.1291C>T) c.86C>T c.1154C>T c.2286C>T (p.Asp762=) c.3414C>T (p.Asp1138=) c.329C>T c.3594C>T (p.Asp1198=) c.3261C>T (p.Asp1087=) | ClinVar |
| 7 | g.117627558A= | CA1737398621 | CFTR | c.3505A= (p.Met1169=) c.*3219A= (n.*3219A=) c.3322A= (p.Met1108=) c.*158A= (n.*158A=) c.*166A= (n.*166A=) c.*1880A= (n.*1880A=) c.3499A= (p.Met1167=) c.*3329A= (n.*3329A=) c.3079A= (p.Met1027=) c.253A= (p.Met85=) c.1292A= (n.1292A=) c.87A= c.1155A= c.2287A= (p.Met763=) c.3415A= (p.Met1139=) c.330A= c.3595A= (p.Met1199=) c.3262A= (p.Met1088=) | |
| 7 | g.117627558A>C | CA368996133 | CFTR | c.3505A>C (p.Met1169Leu) c.*3219A>C (n.*3219A>C) c.3322A>C (p.Met1108Leu) c.*158A>C (n.*158A>C) c.*166A>C (n.*166A>C) c.*1880A>C (n.*1880A>C) c.3499A>C (p.Met1167Leu) c.*3329A>C (n.*3329A>C) c.3079A>C (p.Met1027Leu) c.253A>C (p.Met85Leu) c.1292A>C (n.1292A>C) c.87A>C c.1155A>C c.2287A>C (p.Met763Leu) c.3415A>C (p.Met1139Leu) c.330A>C c.3595A>C (p.Met1199Leu) c.3262A>C (p.Met1088Leu) | |
| 7 | g.117627558A>G | CA368996135 | CFTR | c.3505A>G (p.Met1169Val) c.*3219A>G (n.*3219A>G) c.3322A>G (p.Met1108Val) c.*158A>G (n.*158A>G) c.*166A>G (n.*166A>G) c.*1880A>G (n.*1880A>G) c.3499A>G (p.Met1167Val) c.*3329A>G (n.*3329A>G) c.3079A>G (p.Met1027Val) c.253A>G (p.Met85Val) c.1292A>G (n.1292A>G) c.87A>G c.1155A>G c.2287A>G (p.Met763Val) c.3415A>G (p.Met1139Val) c.330A>G c.3595A>G (p.Met1199Val) c.3262A>G (p.Met1088Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627558A>T | CA368996143 | CFTR | c.3505A>T (p.Met1169Leu) c.*3219A>T (n.*3219A>T) c.3322A>T (p.Met1108Leu) c.*158A>T (n.*158A>T) c.*166A>T (n.*166A>T) c.*1880A>T (n.*1880A>T) c.3499A>T (p.Met1167Leu) c.*3329A>T (n.*3329A>T) c.3079A>T (p.Met1027Leu) c.253A>T (p.Met85Leu) c.1292A>T (n.1292A>T) c.87A>T c.1155A>T c.2287A>T (p.Met763Leu) c.3415A>T (p.Met1139Leu) c.330A>T c.3595A>T (p.Met1199Leu) c.3262A>T (p.Met1088Leu) | gnomAD v4 |
| 7 | g.117627559T>A | CA368996151 | CFTR | c.3506T>A (p.Met1169Lys) c.*3220T>A (n.*3220T>A) c.3323T>A (p.Met1108Lys) c.*159T>A (n.*159T>A) c.*167T>A (n.*167T>A) c.*1881T>A (n.*1881T>A) c.3500T>A (p.Met1167Lys) c.*3330T>A (n.*3330T>A) c.3080T>A (p.Met1027Lys) c.254T>A (p.Met85Lys) c.1293T>A (n.1293T>A) c.88T>A c.1156T>A c.2288T>A (p.Met763Lys) c.3416T>A (p.Met1139Lys) c.331T>A c.3596T>A (p.Met1199Lys) c.3263T>A (p.Met1088Lys) | |
| 7 | g.117627559T>C | CA368996150 | CFTR | c.3506T>C (p.Met1169Thr) c.*3220T>C (n.*3220T>C) c.3323T>C (p.Met1108Thr) c.*159T>C (n.*159T>C) c.*167T>C (n.*167T>C) c.*1881T>C (n.*1881T>C) c.3500T>C (p.Met1167Thr) c.*3330T>C (n.*3330T>C) c.3080T>C (p.Met1027Thr) c.254T>C (p.Met85Thr) c.1293T>C (n.1293T>C) c.88T>C c.1156T>C c.2288T>C (p.Met763Thr) c.3416T>C (p.Met1139Thr) c.331T>C c.3596T>C (p.Met1199Thr) c.3263T>C (p.Met1088Thr) | |
| 7 | g.117627559T>G | CA368996147 | CFTR | c.3506T>G (p.Met1169Arg) c.*3220T>G (n.*3220T>G) c.3323T>G (p.Met1108Arg) c.*159T>G (n.*159T>G) c.*167T>G (n.*167T>G) c.*1881T>G (n.*1881T>G) c.3500T>G (p.Met1167Arg) c.*3330T>G (n.*3330T>G) c.3080T>G (p.Met1027Arg) c.254T>G (p.Met85Arg) c.1293T>G (n.1293T>G) c.88T>G c.1156T>G c.2288T>G (p.Met763Arg) c.3416T>G (p.Met1139Arg) c.331T>G c.3596T>G (p.Met1199Arg) c.3263T>G (p.Met1088Arg) | dbSNP gnomAD v2 |
| 7 | g.117627559T= | CA1737398622 | CFTR | c.3506T= (p.Met1169=) c.*3220T= (n.*3220T=) c.3323T= (p.Met1108=) c.*159T= (n.*159T=) c.*167T= (n.*167T=) c.*1881T= (n.*1881T=) c.3500T= (p.Met1167=) c.*3330T= (n.*3330T=) c.3080T= (p.Met1027=) c.254T= (p.Met85=) c.1293T= (n.1293T=) c.88T= c.1156T= c.2288T= (p.Met763=) c.3416T= (p.Met1139=) c.331T= c.3596T= (p.Met1199=) c.3263T= (p.Met1088=) | |
| 7 | g.117627560G>A | CA368996155 | CFTR | c.3507G>A (p.Met1169Ile) c.*3221G>A (n.*3221G>A) c.3324G>A (p.Met1108Ile) c.*160G>A (n.*160G>A) c.*168G>A (n.*168G>A) c.*1882G>A (n.*1882G>A) c.3501G>A (p.Met1167Ile) c.*3331G>A (n.*3331G>A) c.3081G>A (p.Met1027Ile) c.255G>A (p.Met85Ile) c.1294G>A (n.1294G>A) c.89G>A c.1157G>A c.2289G>A (p.Met763Ile) c.3417G>A (p.Met1139Ile) c.332G>A c.3597G>A (p.Met1199Ile) c.3264G>A (p.Met1088Ile) | |
| 7 | g.117627560G>C | CA368996157 | CFTR | c.3507G>C (p.Met1169Ile) c.*3221G>C (n.*3221G>C) c.3324G>C (p.Met1108Ile) c.*160G>C (n.*160G>C) c.*168G>C (n.*168G>C) c.*1882G>C (n.*1882G>C) c.3501G>C (p.Met1167Ile) c.*3331G>C (n.*3331G>C) c.3081G>C (p.Met1027Ile) c.255G>C (p.Met85Ile) c.1294G>C (n.1294G>C) c.89G>C c.1157G>C c.2289G>C (p.Met763Ile) c.3417G>C (p.Met1139Ile) c.332G>C c.3597G>C (p.Met1199Ile) c.3264G>C (p.Met1088Ile) | |
| 7 | g.117627560G>T | CA368996159 | CFTR | c.3507G>T (p.Met1169Ile) c.*3221G>T (n.*3221G>T) c.3324G>T (p.Met1108Ile) c.*160G>T (n.*160G>T) c.*168G>T (n.*168G>T) c.*1882G>T (n.*1882G>T) c.3501G>T (p.Met1167Ile) c.*3331G>T (n.*3331G>T) c.3081G>T (p.Met1027Ile) c.255G>T (p.Met85Ile) c.1294G>T (n.1294G>T) c.89G>T c.1157G>T c.2289G>T (p.Met763Ile) c.3417G>T (p.Met1139Ile) c.332G>T c.3597G>T (p.Met1199Ile) c.3264G>T (p.Met1088Ile) | gnomAD v4 |
| 7 | g.117627561C>A | CA368996164 | CFTR | c.3508C>A (p.Pro1170Thr) c.*3222C>A (n.*3222C>A) c.3325C>A (p.Pro1109Thr) c.*161C>A (n.*161C>A) c.*169C>A (n.*169C>A) c.*1883C>A (n.*1883C>A) c.3502C>A (p.Pro1168Thr) c.*3332C>A (n.*3332C>A) c.3082C>A (p.Pro1028Thr) c.256C>A (p.Pro86Thr) c.1295C>A (n.1295C>A) c.90C>A c.1158C>A c.2290C>A (p.Pro764Thr) c.3418C>A (p.Pro1140Thr) c.333C>A c.3598C>A (p.Pro1200Thr) c.3265C>A (p.Pro1089Thr) | gnomAD v4 |
| 7 | g.117627561C= | CA1737398623 | CFTR | c.3508C= (p.Pro1170=) c.*3222C= (n.*3222C=) c.3325C= (p.Pro1109=) c.*161C= (n.*161C=) c.*169C= (n.*169C=) c.*1883C= (n.*1883C=) c.3502C= (p.Pro1168=) c.*3332C= (n.*3332C=) c.3082C= (p.Pro1028=) c.256C= (p.Pro86=) c.1295C= (n.1295C=) c.90C= c.1158C= c.2290C= (p.Pro764=) c.3418C= (p.Pro1140=) c.333C= c.3598C= (p.Pro1200=) c.3265C= (p.Pro1089=) | |
| 7 | g.117627561C>G | CA368996167 | CFTR | c.3508C>G (p.Pro1170Ala) c.*3222C>G (n.*3222C>G) c.3325C>G (p.Pro1109Ala) c.*161C>G (n.*161C>G) c.*169C>G (n.*169C>G) c.*1883C>G (n.*1883C>G) c.3502C>G (p.Pro1168Ala) c.*3332C>G (n.*3332C>G) c.3082C>G (p.Pro1028Ala) c.256C>G (p.Pro86Ala) c.1295C>G (n.1295C>G) c.90C>G c.1158C>G c.2290C>G (p.Pro764Ala) c.3418C>G (p.Pro1140Ala) c.333C>G c.3598C>G (p.Pro1200Ala) c.3265C>G (p.Pro1089Ala) | |
| 7 | g.117627561C>T | CA368996169 | CFTR | c.3508C>T (p.Pro1170Ser) c.*3222C>T (n.*3222C>T) c.3325C>T (p.Pro1109Ser) c.*161C>T (n.*161C>T) c.*169C>T (n.*169C>T) c.*1883C>T (n.*1883C>T) c.3502C>T (p.Pro1168Ser) c.*3332C>T (n.*3332C>T) c.3082C>T (p.Pro1028Ser) c.256C>T (p.Pro86Ser) c.1295C>T (n.1295C>T) c.90C>T c.1158C>T c.2290C>T (p.Pro764Ser) c.3418C>T (p.Pro1140Ser) c.333C>T c.3598C>T (p.Pro1200Ser) c.3265C>T (p.Pro1089Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117627562C>A | CA368996173 | CFTR | c.3509C>A (p.Pro1170Gln) c.*3223C>A (n.*3223C>A) c.3326C>A (p.Pro1109Gln) c.*162C>A (n.*162C>A) c.*170C>A (n.*170C>A) c.*1884C>A (n.*1884C>A) c.3503C>A (p.Pro1168Gln) c.*3333C>A (n.*3333C>A) c.3083C>A (p.Pro1028Gln) c.257C>A (p.Pro86Gln) c.1296C>A (n.1296C>A) c.91C>A c.1159C>A c.2291C>A (p.Pro764Gln) c.3419C>A (p.Pro1140Gln) c.334C>A c.3599C>A (p.Pro1200Gln) c.3266C>A (p.Pro1089Gln) | |
| 7 | g.117627562C= | CA1737398624 | CFTR | c.3509C= (p.Pro1170=) c.*3223C= (n.*3223C=) c.3326C= (p.Pro1109=) c.*162C= (n.*162C=) c.*170C= (n.*170C=) c.*1884C= (n.*1884C=) c.3503C= (p.Pro1168=) c.*3333C= (n.*3333C=) c.3083C= (p.Pro1028=) c.257C= (p.Pro86=) c.1296C= (n.1296C=) c.91C= c.1159C= c.2291C= (p.Pro764=) c.3419C= (p.Pro1140=) c.334C= c.3599C= (p.Pro1200=) c.3266C= (p.Pro1089=) |