| 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.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=) | |
| 7 | g.117627562C>G | CA368996177 | CFTR | c.3509C>G (p.Pro1170Arg) c.*3223C>G (n.*3223C>G) c.3326C>G (p.Pro1109Arg) c.*162C>G (n.*162C>G) c.*170C>G (n.*170C>G) c.*1884C>G (n.*1884C>G) c.3503C>G (p.Pro1168Arg) c.*3333C>G (n.*3333C>G) c.3083C>G (p.Pro1028Arg) c.257C>G (p.Pro86Arg) c.1296C>G (n.1296C>G) c.91C>G c.1159C>G c.2291C>G (p.Pro764Arg) c.3419C>G (p.Pro1140Arg) c.334C>G c.3599C>G (p.Pro1200Arg) c.3266C>G (p.Pro1089Arg) | dbSNP |
| 7 | g.117627562C>T | CA368996175 | CFTR | c.3509C>T (p.Pro1170Leu) c.*3223C>T (n.*3223C>T) c.3326C>T (p.Pro1109Leu) c.*162C>T (n.*162C>T) c.*170C>T (n.*170C>T) c.*1884C>T (n.*1884C>T) c.3503C>T (p.Pro1168Leu) c.*3333C>T (n.*3333C>T) c.3083C>T (p.Pro1028Leu) c.257C>T (p.Pro86Leu) c.1296C>T (n.1296C>T) c.91C>T c.1159C>T c.2291C>T (p.Pro764Leu) c.3419C>T (p.Pro1140Leu) c.334C>T c.3599C>T (p.Pro1200Leu) c.3266C>T (p.Pro1089Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117627563A>C | CA457231183 | CFTR | c.3510A>C (p.Pro1170=) c.*3224A>C (n.*3224A>C) c.3327A>C (p.Pro1109=) c.*163A>C (n.*163A>C) c.*171A>C (n.*171A>C) c.*1885A>C (n.*1885A>C) c.3504A>C (p.Pro1168=) c.*3334A>C (n.*3334A>C) c.3084A>C (p.Pro1028=) c.258A>C (p.Pro86=) c.1297A>C (n.1297A>C) c.92A>C c.1160A>C c.2292A>C (p.Pro764=) c.3420A>C (p.Pro1140=) c.335A>C c.3600A>C (p.Pro1200=) c.3267A>C (p.Pro1089=) | |
| 7 | g.117627563A>G | CA457231184 | CFTR | c.3510A>G (p.Pro1170=) c.*3224A>G (n.*3224A>G) c.3327A>G (p.Pro1109=) c.*163A>G (n.*163A>G) c.*171A>G (n.*171A>G) c.*1885A>G (n.*1885A>G) c.3504A>G (p.Pro1168=) c.*3334A>G (n.*3334A>G) c.3084A>G (p.Pro1028=) c.258A>G (p.Pro86=) c.1297A>G (n.1297A>G) c.92A>G c.1160A>G c.2292A>G (p.Pro764=) c.3420A>G (p.Pro1140=) c.335A>G c.3600A>G (p.Pro1200=) c.3267A>G (p.Pro1089=) | |
| 7 | g.117627563A>T | CA457231185 | CFTR | c.3510A>T (p.Pro1170=) c.*3224A>T (n.*3224A>T) c.3327A>T (p.Pro1109=) c.*163A>T (n.*163A>T) c.*171A>T (n.*171A>T) c.*1885A>T (n.*1885A>T) c.3504A>T (p.Pro1168=) c.*3334A>T (n.*3334A>T) c.3084A>T (p.Pro1028=) c.258A>T (p.Pro86=) c.1297A>T (n.1297A>T) c.92A>T c.1160A>T c.2292A>T (p.Pro764=) c.3420A>T (p.Pro1140=) c.335A>T c.3600A>T (p.Pro1200=) c.3267A>T (p.Pro1089=) | |
| 7 | g.117627564A= | CA1737398625 | CFTR | c.3511A= (p.Thr1171=) c.*3225A= (n.*3225A=) c.3328A= (p.Thr1110=) c.*164A= (n.*164A=) c.*172A= (n.*172A=) c.*1886A= (n.*1886A=) c.3505A= (p.Thr1169=) c.*3335A= (n.*3335A=) c.3085A= (p.Thr1029=) c.259A= (p.Thr87=) c.1298A= (n.1298A=) c.93A= c.1161A= c.2293A= (p.Thr765=) c.3421A= (p.Thr1141=) c.336A= c.3601A= (p.Thr1201=) c.3268A= (p.Thr1090=) | |
| 7 | g.117627564A>C | CA368996180 | CFTR | c.3511A>C (p.Thr1171Pro) c.*3225A>C (n.*3225A>C) c.3328A>C (p.Thr1110Pro) c.*164A>C (n.*164A>C) c.*172A>C (n.*172A>C) c.*1886A>C (n.*1886A>C) c.3505A>C (p.Thr1169Pro) c.*3335A>C (n.*3335A>C) c.3085A>C (p.Thr1029Pro) c.259A>C (p.Thr87Pro) c.1298A>C (n.1298A>C) c.93A>C c.1161A>C c.2293A>C (p.Thr765Pro) c.3421A>C (p.Thr1141Pro) c.336A>C c.3601A>C (p.Thr1201Pro) c.3268A>C (p.Thr1090Pro) | gnomAD v4 |
| 7 | g.117627564A>G | CA4451488 | CFTR | c.3511A>G (p.Thr1171Ala) c.*3225A>G (n.*3225A>G) c.3328A>G (p.Thr1110Ala) c.*164A>G (n.*164A>G) c.*172A>G (n.*172A>G) c.*1886A>G (n.*1886A>G) c.3505A>G (p.Thr1169Ala) c.*3335A>G (n.*3335A>G) c.3085A>G (p.Thr1029Ala) c.259A>G (p.Thr87Ala) c.1298A>G (n.1298A>G) c.93A>G c.1161A>G c.2293A>G (p.Thr765Ala) c.3421A>G (p.Thr1141Ala) c.336A>G c.3601A>G (p.Thr1201Ala) c.3268A>G (p.Thr1090Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627564A>T | CA368996184 | CFTR | c.3511A>T (p.Thr1171Ser) c.*3225A>T (n.*3225A>T) c.3328A>T (p.Thr1110Ser) c.*164A>T (n.*164A>T) c.*172A>T (n.*172A>T) c.*1886A>T (n.*1886A>T) c.3505A>T (p.Thr1169Ser) c.*3335A>T (n.*3335A>T) c.3085A>T (p.Thr1029Ser) c.259A>T (p.Thr87Ser) c.1298A>T (n.1298A>T) c.93A>T c.1161A>T c.2293A>T (p.Thr765Ser) c.3421A>T (p.Thr1141Ser) c.336A>T c.3601A>T (p.Thr1201Ser) c.3268A>T (p.Thr1090Ser) | |
| 7 | g.117627565C>A | CA368996186 | CFTR | c.3512C>A (p.Thr1171Lys) c.*3226C>A (n.*3226C>A) c.3329C>A (p.Thr1110Lys) c.*165C>A (n.*165C>A) c.*173C>A (n.*173C>A) c.*1887C>A (n.*1887C>A) c.3506C>A (p.Thr1169Lys) c.*3336C>A (n.*3336C>A) c.3086C>A (p.Thr1029Lys) c.260C>A (p.Thr87Lys) c.1299C>A (n.1299C>A) c.94C>A c.1162C>A c.2294C>A (p.Thr765Lys) c.3422C>A (p.Thr1141Lys) c.337C>A c.3602C>A (p.Thr1201Lys) c.3269C>A (p.Thr1090Lys) | |
| 7 | g.117627565C>G | CA368996188 | CFTR | c.3512C>G (p.Thr1171Arg) c.*3226C>G (n.*3226C>G) c.3329C>G (p.Thr1110Arg) c.*165C>G (n.*165C>G) c.*173C>G (n.*173C>G) c.*1887C>G (n.*1887C>G) c.3506C>G (p.Thr1169Arg) c.*3336C>G (n.*3336C>G) c.3086C>G (p.Thr1029Arg) c.260C>G (p.Thr87Arg) c.1299C>G (n.1299C>G) c.94C>G c.1162C>G c.2294C>G (p.Thr765Arg) c.3422C>G (p.Thr1141Arg) c.337C>G c.3602C>G (p.Thr1201Arg) c.3269C>G (p.Thr1090Arg) | |
| 7 | g.117627565C>T | CA368996190 | CFTR | c.3512C>T (p.Thr1171Ile) c.*3226C>T (n.*3226C>T) c.3329C>T (p.Thr1110Ile) c.*165C>T (n.*165C>T) c.*173C>T (n.*173C>T) c.*1887C>T (n.*1887C>T) c.3506C>T (p.Thr1169Ile) c.*3336C>T (n.*3336C>T) c.3086C>T (p.Thr1029Ile) c.260C>T (p.Thr87Ile) c.1299C>T (n.1299C>T) c.94C>T c.1162C>T c.2294C>T (p.Thr765Ile) c.3422C>T (p.Thr1141Ile) c.337C>T c.3602C>T (p.Thr1201Ile) c.3269C>T (p.Thr1090Ile) | |
| 7 | g.117627566A>C | CA457231186 | CFTR | c.3513A>C (p.Thr1171=) c.*3227A>C (n.*3227A>C) c.3330A>C (p.Thr1110=) c.*166A>C (n.*166A>C) c.*174A>C (n.*174A>C) c.*1888A>C (n.*1888A>C) c.3507A>C (p.Thr1169=) c.*3337A>C (n.*3337A>C) c.3087A>C (p.Thr1029=) c.261A>C (p.Thr87=) c.1300A>C (n.1300A>C) c.95A>C c.1163A>C c.2295A>C (p.Thr765=) c.3423A>C (p.Thr1141=) c.338A>C c.3603A>C (p.Thr1201=) c.3270A>C (p.Thr1090=) | ClinVar |
| 7 | g.117627566A>G | CA457231187 | CFTR | c.3513A>G (p.Thr1171=) c.*3227A>G (n.*3227A>G) c.3330A>G (p.Thr1110=) c.*166A>G (n.*166A>G) c.*174A>G (n.*174A>G) c.*1888A>G (n.*1888A>G) c.3507A>G (p.Thr1169=) c.*3337A>G (n.*3337A>G) c.3087A>G (p.Thr1029=) c.261A>G (p.Thr87=) c.1300A>G (n.1300A>G) c.95A>G c.1163A>G c.2295A>G (p.Thr765=) c.3423A>G (p.Thr1141=) c.338A>G c.3603A>G (p.Thr1201=) c.3270A>G (p.Thr1090=) | gnomAD v4 |
| 7 | g.117627566A>T | CA457231188 | CFTR | c.3513A>T (p.Thr1171=) c.*3227A>T (n.*3227A>T) c.3330A>T (p.Thr1110=) c.*166A>T (n.*166A>T) c.*174A>T (n.*174A>T) c.*1888A>T (n.*1888A>T) c.3507A>T (p.Thr1169=) c.*3337A>T (n.*3337A>T) c.3087A>T (p.Thr1029=) c.261A>T (p.Thr87=) c.1300A>T (n.1300A>T) c.95A>T c.1163A>T c.2295A>T (p.Thr765=) c.3423A>T (p.Thr1141=) c.338A>T c.3603A>T (p.Thr1201=) c.3270A>T (p.Thr1090=) | |
| 7 | g.117627567G>A | CA368996192 | CFTR | c.3514G>A (p.Glu1172Lys) c.*3228G>A (n.*3228G>A) c.3331G>A (p.Glu1111Lys) c.*167G>A (n.*167G>A) c.*175G>A (n.*175G>A) c.*1889G>A (n.*1889G>A) c.3508G>A (p.Glu1170Lys) c.*3338G>A (n.*3338G>A) c.3088G>A (p.Glu1030Lys) c.262G>A (p.Glu88Lys) c.1301G>A (n.1301G>A) c.96G>A c.1164G>A c.2296G>A (p.Glu766Lys) c.3424G>A (p.Glu1142Lys) c.339G>A c.3604G>A (p.Glu1202Lys) c.3271G>A (p.Glu1091Lys) | COSMIC |
| 7 | g.117627567G>C | CA368996194 | CFTR | c.3514G>C (p.Glu1172Gln) c.*3228G>C (n.*3228G>C) c.3331G>C (p.Glu1111Gln) c.*167G>C (n.*167G>C) c.*175G>C (n.*175G>C) c.*1889G>C (n.*1889G>C) c.3508G>C (p.Glu1170Gln) c.*3338G>C (n.*3338G>C) c.3088G>C (p.Glu1030Gln) c.262G>C (p.Glu88Gln) c.1301G>C (n.1301G>C) c.96G>C c.1164G>C c.2296G>C (p.Glu766Gln) c.3424G>C (p.Glu1142Gln) c.339G>C c.3604G>C (p.Glu1202Gln) c.3271G>C (p.Glu1091Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117627567G= | CA1737398626 | CFTR | c.3514G= (p.Glu1172=) c.*3228G= (n.*3228G=) c.3331G= (p.Glu1111=) c.*167G= (n.*167G=) c.*175G= (n.*175G=) c.*1889G= (n.*1889G=) c.3508G= (p.Glu1170=) c.*3338G= (n.*3338G=) c.3088G= (p.Glu1030=) c.262G= (p.Glu88=) c.1301G= (n.1301G=) c.96G= c.1164G= c.2296G= (p.Glu766=) c.3424G= (p.Glu1142=) c.339G= c.3604G= (p.Glu1202=) c.3271G= (p.Glu1091=) | |
| 7 | g.117627567G>T | CA368996196 | CFTR | c.3514G>T (p.Glu1172Ter) c.*3228G>T (n.*3228G>T) c.3331G>T (p.Glu1111Ter) c.*167G>T (n.*167G>T) c.*175G>T (n.*175G>T) c.*1889G>T (n.*1889G>T) c.3508G>T (p.Glu1170Ter) c.*3338G>T (n.*3338G>T) c.3088G>T (p.Glu1030Ter) c.262G>T (p.Glu88Ter) c.1301G>T (n.1301G>T) c.96G>T c.1164G>T c.2296G>T (p.Glu766Ter) c.3424G>T (p.Glu1142Ter) c.339G>T c.3604G>T (p.Glu1202Ter) c.3271G>T (p.Glu1091Ter) | |
| 7 | g.117627568A>C | CA368996197 | CFTR | c.3515A>C (p.Glu1172Ala) c.*3229A>C (n.*3229A>C) c.3332A>C (p.Glu1111Ala) c.*168A>C (n.*168A>C) c.*176A>C (n.*176A>C) c.*1890A>C (n.*1890A>C) c.3509A>C (p.Glu1170Ala) c.*3339A>C (n.*3339A>C) c.3089A>C (p.Glu1030Ala) c.263A>C (p.Glu88Ala) c.1302A>C (n.1302A>C) c.97A>C c.1165A>C c.2297A>C (p.Glu766Ala) c.3425A>C (p.Glu1142Ala) c.340A>C c.3605A>C (p.Glu1202Ala) c.3272A>C (p.Glu1091Ala) | |
| 7 | g.117627568A>G | CA368996198 | CFTR | c.3515A>G (p.Glu1172Gly) c.*3229A>G (n.*3229A>G) c.3332A>G (p.Glu1111Gly) c.*168A>G (n.*168A>G) c.*176A>G (n.*176A>G) c.*1890A>G (n.*1890A>G) c.3509A>G (p.Glu1170Gly) c.*3339A>G (n.*3339A>G) c.3089A>G (p.Glu1030Gly) c.263A>G (p.Glu88Gly) c.1302A>G (n.1302A>G) c.97A>G c.1165A>G c.2297A>G (p.Glu766Gly) c.3425A>G (p.Glu1142Gly) c.340A>G c.3605A>G (p.Glu1202Gly) c.3272A>G (p.Glu1091Gly) | |
| 7 | g.117627568A>T | CA368996201 | CFTR | c.3515A>T (p.Glu1172Val) c.*3229A>T (n.*3229A>T) c.3332A>T (p.Glu1111Val) c.*168A>T (n.*168A>T) c.*176A>T (n.*176A>T) c.*1890A>T (n.*1890A>T) c.3509A>T (p.Glu1170Val) c.*3339A>T (n.*3339A>T) c.3089A>T (p.Glu1030Val) c.263A>T (p.Glu88Val) c.1302A>T (n.1302A>T) c.97A>T c.1165A>T c.2297A>T (p.Glu766Val) c.3425A>T (p.Glu1142Val) c.340A>T c.3605A>T (p.Glu1202Val) c.3272A>T (p.Glu1091Val) | |
| 7 | g.117627569A>C | CA368996204 | CFTR | c.3516A>C (p.Glu1172Asp) c.*3230A>C (n.*3230A>C) c.3333A>C (p.Glu1111Asp) c.*169A>C (n.*169A>C) c.*177A>C (n.*177A>C) c.*1891A>C (n.*1891A>C) c.3510A>C (p.Glu1170Asp) c.*3340A>C (n.*3340A>C) c.3090A>C (p.Glu1030Asp) c.264A>C (p.Glu88Asp) c.1303A>C (n.1303A>C) c.98A>C c.1166A>C c.2298A>C (p.Glu766Asp) c.3426A>C (p.Glu1142Asp) c.341A>C c.3606A>C (p.Glu1202Asp) c.3273A>C (p.Glu1091Asp) | |
| 7 | g.117627569A>G | CA457231189 | CFTR | c.3516A>G (p.Glu1172=) c.*3230A>G (n.*3230A>G) c.3333A>G (p.Glu1111=) c.*169A>G (n.*169A>G) c.*177A>G (n.*177A>G) c.*1891A>G (n.*1891A>G) c.3510A>G (p.Glu1170=) c.*3340A>G (n.*3340A>G) c.3090A>G (p.Glu1030=) c.264A>G (p.Glu88=) c.1303A>G (n.1303A>G) c.98A>G c.1166A>G c.2298A>G (p.Glu766=) c.3426A>G (p.Glu1142=) c.341A>G c.3606A>G (p.Glu1202=) c.3273A>G (p.Glu1091=) | |
| 7 | g.117627569A>T | CA368996203 | CFTR | c.3516A>T (p.Glu1172Asp) c.*3230A>T (n.*3230A>T) c.3333A>T (p.Glu1111Asp) c.*169A>T (n.*169A>T) c.*177A>T (n.*177A>T) c.*1891A>T (n.*1891A>T) c.3510A>T (p.Glu1170Asp) c.*3340A>T (n.*3340A>T) c.3090A>T (p.Glu1030Asp) c.264A>T (p.Glu88Asp) c.1303A>T (n.1303A>T) c.98A>T c.1166A>T c.2298A>T (p.Glu766Asp) c.3426A>T (p.Glu1142Asp) c.341A>T c.3606A>T (p.Glu1202Asp) c.3273A>T (p.Glu1091Asp) | |
| 7 | g.117627570G>A | CA4451489 | CFTR | c.3517G>A (p.Gly1173Ser) c.*3231G>A (n.*3231G>A) c.3334G>A (p.Gly1112Ser) c.*170G>A (n.*170G>A) c.*178G>A (n.*178G>A) c.*1892G>A (n.*1892G>A) c.3511G>A (p.Gly1171Ser) c.*3341G>A (n.*3341G>A) c.3091G>A (p.Gly1031Ser) c.265G>A (p.Gly89Ser) c.1304G>A (n.1304G>A) c.99G>A c.1167G>A c.2299G>A (p.Gly767Ser) c.3427G>A (p.Gly1143Ser) c.342G>A c.3607G>A (p.Gly1203Ser) c.3274G>A (p.Gly1092Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627570G>C | CA368996208 | CFTR | c.3517G>C (p.Gly1173Arg) c.*3231G>C (n.*3231G>C) c.3334G>C (p.Gly1112Arg) c.*170G>C (n.*170G>C) c.*178G>C (n.*178G>C) c.*1892G>C (n.*1892G>C) c.3511G>C (p.Gly1171Arg) c.*3341G>C (n.*3341G>C) c.3091G>C (p.Gly1031Arg) c.265G>C (p.Gly89Arg) c.1304G>C (n.1304G>C) c.99G>C c.1167G>C c.2299G>C (p.Gly767Arg) c.3427G>C (p.Gly1143Arg) c.342G>C c.3607G>C (p.Gly1203Arg) c.3274G>C (p.Gly1092Arg) | dbSNP |
| 7 | g.117627570G= | CA1737398627 | CFTR | c.3517G= (p.Gly1173=) c.*3231G= (n.*3231G=) c.3334G= (p.Gly1112=) c.*170G= (n.*170G=) c.*178G= (n.*178G=) c.*1892G= (n.*1892G=) c.3511G= (p.Gly1171=) c.*3341G= (n.*3341G=) c.3091G= (p.Gly1031=) c.265G= (p.Gly89=) c.1304G= (n.1304G=) c.99G= c.1167G= c.2299G= (p.Gly767=) c.3427G= (p.Gly1143=) c.342G= c.3607G= (p.Gly1203=) c.3274G= (p.Gly1092=) | |
| 7 | g.117627570G>T | CA368996206 | CFTR | c.3517G>T (p.Gly1173Cys) c.*3231G>T (n.*3231G>T) c.3334G>T (p.Gly1112Cys) c.*170G>T (n.*170G>T) c.*178G>T (n.*178G>T) c.*1892G>T (n.*1892G>T) c.3511G>T (p.Gly1171Cys) c.*3341G>T (n.*3341G>T) c.3091G>T (p.Gly1031Cys) c.265G>T (p.Gly89Cys) c.1304G>T (n.1304G>T) c.99G>T c.1167G>T c.2299G>T (p.Gly767Cys) c.3427G>T (p.Gly1143Cys) c.342G>T c.3607G>T (p.Gly1203Cys) c.3274G>T (p.Gly1092Cys) | dbSNP |