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.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117603491A= | CA1737374332 | CFTR | c.2658-41A= (n.2658-41A=) c.*2372-41A= (n.*2372-41A=) c.2475-41A= (n.2475-41A=) c.*958-41A= (n.*958-41A=) c.*2482-41A= (n.*2482-41A=) c.2232-41A= (n.2232-41A=) c.249-41A= (n.249-41A=) c.308-41A= c.1440-41A= (n.1440-41A=) c.2568-41A= (n.2568-41A=) c.2748-41A= (n.2748-41A=) c.2415-41A= (n.2415-41A=) | |
| 7 | g.117603491A>G | CA2684587816 | CFTR | c.2658-41A>G (n.2658-41A>G) c.*2372-41A>G (n.*2372-41A>G) c.2475-41A>G (n.2475-41A>G) c.*958-41A>G (n.*958-41A>G) c.*2482-41A>G (n.*2482-41A>G) c.2232-41A>G (n.2232-41A>G) c.249-41A>G (n.249-41A>G) c.308-41A>G c.1440-41A>G (n.1440-41A>G) c.2568-41A>G (n.2568-41A>G) c.2748-41A>G (n.2748-41A>G) c.2415-41A>G (n.2415-41A>G) | gnomAD v4 |
| 7 | g.117603491A>T | CA1737374333 | CFTR | c.2658-41A>T (n.2658-41A>T) c.*2372-41A>T (n.*2372-41A>T) c.2475-41A>T (n.2475-41A>T) c.*958-41A>T (n.*958-41A>T) c.*2482-41A>T (n.*2482-41A>T) c.2232-41A>T (n.2232-41A>T) c.249-41A>T (n.249-41A>T) c.308-41A>T c.1440-41A>T (n.1440-41A>T) c.2568-41A>T (n.2568-41A>T) c.2748-41A>T (n.2748-41A>T) c.2415-41A>T (n.2415-41A>T) | dbSNP |
| 7 | g.117603492A>G | CA2684587817 | CFTR | c.2658-40A>G (n.2658-40A>G) c.*2372-40A>G (n.*2372-40A>G) c.2475-40A>G (n.2475-40A>G) c.*958-40A>G (n.*958-40A>G) c.*2482-40A>G (n.*2482-40A>G) c.2232-40A>G (n.2232-40A>G) c.249-40A>G (n.249-40A>G) c.308-40A>G c.1440-40A>G (n.1440-40A>G) c.2568-40A>G (n.2568-40A>G) c.2748-40A>G (n.2748-40A>G) c.2415-40A>G (n.2415-40A>G) | gnomAD v4 |
| 7 | g.117603493C>T | CA2684587818 | CFTR | c.2658-39C>T (n.2658-39C>T) c.*2372-39C>T (n.*2372-39C>T) c.2475-39C>T (n.2475-39C>T) c.*958-39C>T (n.*958-39C>T) c.*2482-39C>T (n.*2482-39C>T) c.2232-39C>T (n.2232-39C>T) c.249-39C>T (n.249-39C>T) c.308-39C>T c.1440-39C>T (n.1440-39C>T) c.2568-39C>T (n.2568-39C>T) c.2748-39C>T (n.2748-39C>T) c.2415-39C>T (n.2415-39C>T) | gnomAD v4 |
| 7 | g.117603493_117603495delinsCTT | CA1737374334 | CFTR | c.2658-39_2658-37delinsCTT (n.2658-39_2658-37delinsCTT) c.*2372-39_*2372-37delinsCTT (n.*2372-39_*2372-37delinsCTT) c.2475-39_2475-37delinsCTT (n.2475-39_2475-37delinsCTT) c.*958-39_*958-37delinsCTT (n.*958-39_*958-37delinsCTT) c.*2482-39_*2482-37delinsCTT (n.*2482-39_*2482-37delinsCTT) c.2232-39_2232-37delinsCTT (n.2232-39_2232-37delinsCTT) c.249-39_249-37delinsCTT (n.249-39_249-37delinsCTT) c.308-39_308-37delinsCTT c.1440-39_1440-37delinsCTT (n.1440-39_1440-37delinsCTT) c.2568-39_2568-37delinsCTT (n.2568-39_2568-37delinsCTT) c.2748-39_2748-37delinsCTT (n.2748-39_2748-37delinsCTT) c.2415-39_2415-37delinsCTT (n.2415-39_2415-37delinsCTT) | |
| 7 | g.117603494T>A | CA4451263 | CFTR | c.2658-38T>A (n.2658-38T>A) c.*2372-38T>A (n.*2372-38T>A) c.2475-38T>A (n.2475-38T>A) c.*958-38T>A (n.*958-38T>A) c.*2482-38T>A (n.*2482-38T>A) c.2232-38T>A (n.2232-38T>A) c.249-38T>A (n.249-38T>A) c.308-38T>A c.1440-38T>A (n.1440-38T>A) c.2568-38T>A (n.2568-38T>A) c.2748-38T>A (n.2748-38T>A) c.2415-38T>A (n.2415-38T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603494T= | CA1737374337 | CFTR | c.2658-38T= (n.2658-38T=) c.*2372-38T= (n.*2372-38T=) c.2475-38T= (n.2475-38T=) c.*958-38T= (n.*958-38T=) c.*2482-38T= (n.*2482-38T=) c.2232-38T= (n.2232-38T=) c.249-38T= (n.249-38T=) c.308-38T= c.1440-38T= (n.1440-38T=) c.2568-38T= (n.2568-38T=) c.2748-38T= (n.2748-38T=) c.2415-38T= (n.2415-38T=) | |
| 7 | g.117603495_117603496del | CA4451262 | CFTR | c.2658-37_2658-36del (n.2658-37_2658-36del) c.*2372-37_*2372-36del (n.*2372-37_*2372-36del) c.2475-37_2475-36del (n.2475-37_2475-36del) c.*958-37_*958-36del (n.*958-37_*958-36del) c.*2482-37_*2482-36del (n.*2482-37_*2482-36del) c.2232-37_2232-36del (n.2232-37_2232-36del) c.249-37_249-36del (n.249-37_249-36del) c.308-37_308-36del c.1440-37_1440-36del (n.1440-37_1440-36del) c.2568-37_2568-36del (n.2568-37_2568-36del) c.2748-37_2748-36del (n.2748-37_2748-36del) c.2415-37_2415-36del (n.2415-37_2415-36del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603495T>C | CA2684587819 | CFTR | c.2658-37T>C (n.2658-37T>C) c.*2372-37T>C (n.*2372-37T>C) c.2475-37T>C (n.2475-37T>C) c.*958-37T>C (n.*958-37T>C) c.*2482-37T>C (n.*2482-37T>C) c.2232-37T>C (n.2232-37T>C) c.249-37T>C (n.249-37T>C) c.308-37T>C c.1440-37T>C (n.1440-37T>C) c.2568-37T>C (n.2568-37T>C) c.2748-37T>C (n.2748-37T>C) c.2415-37T>C (n.2415-37T>C) | gnomAD v4 |
| 7 | g.117603496T>G | CA2684587820 | CFTR | c.2658-36T>G (n.2658-36T>G) c.*2372-36T>G (n.*2372-36T>G) c.2475-36T>G (n.2475-36T>G) c.*958-36T>G (n.*958-36T>G) c.*2482-36T>G (n.*2482-36T>G) c.2232-36T>G (n.2232-36T>G) c.249-36T>G (n.249-36T>G) c.308-36T>G c.1440-36T>G (n.1440-36T>G) c.2568-36T>G (n.2568-36T>G) c.2748-36T>G (n.2748-36T>G) c.2415-36T>G (n.2415-36T>G) | gnomAD v4 |
| 7 | g.117603499C>T | CA2684587821 | CFTR | c.2658-33C>T (n.2658-33C>T) c.*2372-33C>T (n.*2372-33C>T) c.2475-33C>T (n.2475-33C>T) c.*958-33C>T (n.*958-33C>T) c.*2482-33C>T (n.*2482-33C>T) c.2232-33C>T (n.2232-33C>T) c.249-33C>T (n.249-33C>T) c.308-33C>T c.1440-33C>T (n.1440-33C>T) c.2568-33C>T (n.2568-33C>T) c.2748-33C>T (n.2748-33C>T) c.2415-33C>T (n.2415-33C>T) | gnomAD v4 |
| 7 | g.117603502C>A | CA2684587822 | CFTR | c.2658-30C>A (n.2658-30C>A) c.*2372-30C>A (n.*2372-30C>A) c.2475-30C>A (n.2475-30C>A) c.*958-30C>A (n.*958-30C>A) c.*2482-30C>A (n.*2482-30C>A) c.2232-30C>A (n.2232-30C>A) c.249-30C>A (n.249-30C>A) c.308-30C>A c.1440-30C>A (n.1440-30C>A) c.2568-30C>A (n.2568-30C>A) c.2748-30C>A (n.2748-30C>A) c.2415-30C>A (n.2415-30C>A) | gnomAD v4 |
| 7 | g.117603506A>G | CA2579000225 | CFTR | c.2658-26A>G (n.2658-26A>G) c.*2372-26A>G (n.*2372-26A>G) c.2475-26A>G (n.2475-26A>G) c.*958-26A>G (n.*958-26A>G) c.*2482-26A>G (n.*2482-26A>G) c.2232-26A>G (n.2232-26A>G) c.249-26A>G (n.249-26A>G) c.308-26A>G c.1440-26A>G (n.1440-26A>G) c.2568-26A>G (n.2568-26A>G) c.2748-26A>G (n.2748-26A>G) c.2415-26A>G (n.2415-26A>G) | |
| 7 | g.117603507T>C | CA577222428 | CFTR | c.2658-25T>C (n.2658-25T>C) c.*2372-25T>C (n.*2372-25T>C) c.2475-25T>C (n.2475-25T>C) c.*958-25T>C (n.*958-25T>C) c.*2482-25T>C (n.*2482-25T>C) c.2232-25T>C (n.2232-25T>C) c.249-25T>C (n.249-25T>C) c.308-25T>C c.1440-25T>C (n.1440-25T>C) c.2568-25T>C (n.2568-25T>C) c.2748-25T>C (n.2748-25T>C) c.2415-25T>C (n.2415-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603507T>G | CA2777585798 | CFTR | c.2658-25T>G (n.2658-25T>G) c.*2372-25T>G (n.*2372-25T>G) c.2475-25T>G (n.2475-25T>G) c.*958-25T>G (n.*958-25T>G) c.*2482-25T>G (n.*2482-25T>G) c.2232-25T>G (n.2232-25T>G) c.249-25T>G (n.249-25T>G) c.308-25T>G c.1440-25T>G (n.1440-25T>G) c.2568-25T>G (n.2568-25T>G) c.2748-25T>G (n.2748-25T>G) c.2415-25T>G (n.2415-25T>G) | |
| 7 | g.117603507T= | CA1737374340 | CFTR | c.2658-25T= (n.2658-25T=) c.*2372-25T= (n.*2372-25T=) c.2475-25T= (n.2475-25T=) c.*958-25T= (n.*958-25T=) c.*2482-25T= (n.*2482-25T=) c.2232-25T= (n.2232-25T=) c.249-25T= (n.249-25T=) c.308-25T= c.1440-25T= (n.1440-25T=) c.2568-25T= (n.2568-25T=) c.2748-25T= (n.2748-25T=) c.2415-25T= (n.2415-25T=) | |
| 7 | g.117603509A= | CA1737374341 | CFTR | c.2658-23A= (n.2658-23A=) c.*2372-23A= (n.*2372-23A=) c.2475-23A= (n.2475-23A=) c.*958-23A= (n.*958-23A=) c.*2482-23A= (n.*2482-23A=) c.2232-23A= (n.2232-23A=) c.249-23A= (n.249-23A=) c.308-23A= c.1440-23A= (n.1440-23A=) c.2568-23A= (n.2568-23A=) c.2748-23A= (n.2748-23A=) c.2415-23A= (n.2415-23A=) | |
| 7 | g.117603509A>G | CA577222429 | CFTR | c.2658-23A>G (n.2658-23A>G) c.*2372-23A>G (n.*2372-23A>G) c.2475-23A>G (n.2475-23A>G) c.*958-23A>G (n.*958-23A>G) c.*2482-23A>G (n.*2482-23A>G) c.2232-23A>G (n.2232-23A>G) c.249-23A>G (n.249-23A>G) c.308-23A>G c.1440-23A>G (n.1440-23A>G) c.2568-23A>G (n.2568-23A>G) c.2748-23A>G (n.2748-23A>G) c.2415-23A>G (n.2415-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603510C>A | CA164959868 | CFTR | c.2658-22C>A (n.2658-22C>A) c.*2372-22C>A (n.*2372-22C>A) c.2475-22C>A (n.2475-22C>A) c.*958-22C>A (n.*958-22C>A) c.*2482-22C>A (n.*2482-22C>A) c.2232-22C>A (n.2232-22C>A) c.249-22C>A (n.249-22C>A) c.308-22C>A c.1440-22C>A (n.1440-22C>A) c.2568-22C>A (n.2568-22C>A) c.2748-22C>A (n.2748-22C>A) c.2415-22C>A (n.2415-22C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603510C= | CA1737374346 | CFTR | c.2658-22C= (n.2658-22C=) c.*2372-22C= (n.*2372-22C=) c.2475-22C= (n.2475-22C=) c.*958-22C= (n.*958-22C=) c.*2482-22C= (n.*2482-22C=) c.2232-22C= (n.2232-22C=) c.249-22C= (n.249-22C=) c.308-22C= c.1440-22C= (n.1440-22C=) c.2568-22C= (n.2568-22C=) c.2748-22C= (n.2748-22C=) c.2415-22C= (n.2415-22C=) | |
| 7 | g.117603510C>G | CA577222430 | CFTR | c.2658-22C>G (n.2658-22C>G) c.*2372-22C>G (n.*2372-22C>G) c.2475-22C>G (n.2475-22C>G) c.*958-22C>G (n.*958-22C>G) c.*2482-22C>G (n.*2482-22C>G) c.2232-22C>G (n.2232-22C>G) c.249-22C>G (n.249-22C>G) c.308-22C>G c.1440-22C>G (n.1440-22C>G) c.2568-22C>G (n.2568-22C>G) c.2748-22C>G (n.2748-22C>G) c.2415-22C>G (n.2415-22C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603510C>T | CA4451264 | CFTR | c.2658-22C>T (n.2658-22C>T) c.*2372-22C>T (n.*2372-22C>T) c.2475-22C>T (n.2475-22C>T) c.*958-22C>T (n.*958-22C>T) c.*2482-22C>T (n.*2482-22C>T) c.2232-22C>T (n.2232-22C>T) c.249-22C>T (n.249-22C>T) c.308-22C>T c.1440-22C>T (n.1440-22C>T) c.2568-22C>T (n.2568-22C>T) c.2748-22C>T (n.2748-22C>T) c.2415-22C>T (n.2415-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603511G>A | CA4451265 | CFTR | c.2658-21G>A (n.2658-21G>A) c.*2372-21G>A (n.*2372-21G>A) c.2475-21G>A (n.2475-21G>A) c.*958-21G>A (n.*958-21G>A) c.*2482-21G>A (n.*2482-21G>A) c.2232-21G>A (n.2232-21G>A) c.249-21G>A (n.249-21G>A) c.308-21G>A c.1440-21G>A (n.1440-21G>A) c.2568-21G>A (n.2568-21G>A) c.2748-21G>A (n.2748-21G>A) c.2415-21G>A (n.2415-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603511G= | CA1737374352 | CFTR | c.2658-21G= (n.2658-21G=) c.*2372-21G= (n.*2372-21G=) c.2475-21G= (n.2475-21G=) c.*958-21G= (n.*958-21G=) c.*2482-21G= (n.*2482-21G=) c.2232-21G= (n.2232-21G=) c.249-21G= (n.249-21G=) c.308-21G= c.1440-21G= (n.1440-21G=) c.2568-21G= (n.2568-21G=) c.2748-21G= (n.2748-21G=) c.2415-21G= (n.2415-21G=) | |
| 7 | g.117603511G>T | CA2684587823 | CFTR | c.2658-21G>T (n.2658-21G>T) c.*2372-21G>T (n.*2372-21G>T) c.2475-21G>T (n.2475-21G>T) c.*958-21G>T (n.*958-21G>T) c.*2482-21G>T (n.*2482-21G>T) c.2232-21G>T (n.2232-21G>T) c.249-21G>T (n.249-21G>T) c.308-21G>T c.1440-21G>T (n.1440-21G>T) c.2568-21G>T (n.2568-21G>T) c.2748-21G>T (n.2748-21G>T) c.2415-21G>T (n.2415-21G>T) | gnomAD v4 |
| 7 | g.117603514T>C | CA651971672 | CFTR | c.2658-18T>C (n.2658-18T>C) c.*2372-18T>C (n.*2372-18T>C) c.2475-18T>C (n.2475-18T>C) c.*958-18T>C (n.*958-18T>C) c.*2482-18T>C (n.*2482-18T>C) c.2232-18T>C (n.2232-18T>C) c.249-18T>C (n.249-18T>C) c.308-18T>C c.1440-18T>C (n.1440-18T>C) c.2568-18T>C (n.2568-18T>C) c.2748-18T>C (n.2748-18T>C) c.2415-18T>C (n.2415-18T>C) | COSMIC COSMIC COSMIC |
| 7 | g.117603516C>T | CA2684587824 | CFTR | c.2658-16C>T (n.2658-16C>T) c.*2372-16C>T (n.*2372-16C>T) c.2475-16C>T (n.2475-16C>T) c.*958-16C>T (n.*958-16C>T) c.*2482-16C>T (n.*2482-16C>T) c.2232-16C>T (n.2232-16C>T) c.249-16C>T (n.249-16C>T) c.308-16C>T c.1440-16C>T (n.1440-16C>T) c.2568-16C>T (n.2568-16C>T) c.2748-16C>T (n.2748-16C>T) c.2415-16C>T (n.2415-16C>T) | ClinVar gnomAD v4 |
| 7 | g.117603518T>A | CA2684587825 | CFTR | c.2658-14T>A (n.2658-14T>A) c.*2372-14T>A (n.*2372-14T>A) c.2475-14T>A (n.2475-14T>A) c.*958-14T>A (n.*958-14T>A) c.*2482-14T>A (n.*2482-14T>A) c.2232-14T>A (n.2232-14T>A) c.249-14T>A (n.249-14T>A) c.308-14T>A c.1440-14T>A (n.1440-14T>A) c.2568-14T>A (n.2568-14T>A) c.2748-14T>A (n.2748-14T>A) c.2415-14T>A (n.2415-14T>A) | gnomAD v4 |
| 7 | g.117603518T>C | CA2684587826 | CFTR | c.2658-14T>C (n.2658-14T>C) c.*2372-14T>C (n.*2372-14T>C) c.2475-14T>C (n.2475-14T>C) c.*958-14T>C (n.*958-14T>C) c.*2482-14T>C (n.*2482-14T>C) c.2232-14T>C (n.2232-14T>C) c.249-14T>C (n.249-14T>C) c.308-14T>C c.1440-14T>C (n.1440-14T>C) c.2568-14T>C (n.2568-14T>C) c.2748-14T>C (n.2748-14T>C) c.2415-14T>C (n.2415-14T>C) | dbSNP gnomAD v4 |
| 7 | g.117603519A>G | CA2684587827 | CFTR | c.2658-13A>G (n.2658-13A>G) c.*2372-13A>G (n.*2372-13A>G) c.2475-13A>G (n.2475-13A>G) c.*958-13A>G (n.*958-13A>G) c.*2482-13A>G (n.*2482-13A>G) c.2232-13A>G (n.2232-13A>G) c.249-13A>G (n.249-13A>G) c.308-13A>G c.1440-13A>G (n.1440-13A>G) c.2568-13A>G (n.2568-13A>G) c.2748-13A>G (n.2748-13A>G) c.2415-13A>G (n.2415-13A>G) | ClinVar gnomAD v4 |
| 7 | g.117603519A>T | CA2715457340 | CFTR | c.2658-13A>T (n.2658-13A>T) c.*2372-13A>T (n.*2372-13A>T) c.2475-13A>T (n.2475-13A>T) c.*958-13A>T (n.*958-13A>T) c.*2482-13A>T (n.*2482-13A>T) c.2232-13A>T (n.2232-13A>T) c.249-13A>T (n.249-13A>T) c.308-13A>T c.1440-13A>T (n.1440-13A>T) c.2568-13A>T (n.2568-13A>T) c.2748-13A>T (n.2748-13A>T) c.2415-13A>T (n.2415-13A>T) | dbSNP |
| 7 | g.117603520T>C | CA164959884 | CFTR | c.2658-12T>C (n.2658-12T>C) c.*2372-12T>C (n.*2372-12T>C) c.2475-12T>C (n.2475-12T>C) c.*958-12T>C (n.*958-12T>C) c.*2482-12T>C (n.*2482-12T>C) c.2232-12T>C (n.2232-12T>C) c.249-12T>C (n.249-12T>C) c.308-12T>C c.1440-12T>C (n.1440-12T>C) c.2568-12T>C (n.2568-12T>C) c.2748-12T>C (n.2748-12T>C) c.2415-12T>C (n.2415-12T>C) | dbSNP gnomAD v4 |
| 7 | g.117603520T>G | CA2580076323 | CFTR | c.2658-12T>G (n.2658-12T>G) c.*2372-12T>G (n.*2372-12T>G) c.2475-12T>G (n.2475-12T>G) c.*958-12T>G (n.*958-12T>G) c.*2482-12T>G (n.*2482-12T>G) c.2232-12T>G (n.2232-12T>G) c.249-12T>G (n.249-12T>G) c.308-12T>G c.1440-12T>G (n.1440-12T>G) c.2568-12T>G (n.2568-12T>G) c.2748-12T>G (n.2748-12T>G) c.2415-12T>G (n.2415-12T>G) | ClinVar |
| 7 | g.117603520T= | CA1737374359 | CFTR | c.2658-12T= (n.2658-12T=) c.*2372-12T= (n.*2372-12T=) c.2475-12T= (n.2475-12T=) c.*958-12T= (n.*958-12T=) c.*2482-12T= (n.*2482-12T=) c.2232-12T= (n.2232-12T=) c.249-12T= (n.249-12T=) c.308-12T= c.1440-12T= (n.1440-12T=) c.2568-12T= (n.2568-12T=) c.2748-12T= (n.2748-12T=) c.2415-12T= (n.2415-12T=) | |
| 7 | g.117603522dup | CA2777585811 | CFTR | c.2658-10dup (n.2658-10dup) c.*2372-10dup (n.*2372-10dup) c.2475-10dup (n.2475-10dup) c.*958-10dup (n.*958-10dup) c.*2482-10dup (n.*2482-10dup) c.2232-10dup (n.2232-10dup) c.249-10dup (n.249-10dup) c.308-10dup c.1440-10dup (n.1440-10dup) c.2568-10dup (n.2568-10dup) c.2748-10dup (n.2748-10dup) c.2415-10dup (n.2415-10dup) | |
| 7 | g.117603522_117603523delinsTG | CA1737374367 | CFTR | c.2658-10_2658-9delinsTG (n.2658-10_2658-9delinsTG) c.*2372-10_*2372-9delinsTG (n.*2372-10_*2372-9delinsTG) c.2475-10_2475-9delinsTG (n.2475-10_2475-9delinsTG) c.*958-10_*958-9delinsTG (n.*958-10_*958-9delinsTG) c.*2482-10_*2482-9delinsTG (n.*2482-10_*2482-9delinsTG) c.2232-10_2232-9delinsTG (n.2232-10_2232-9delinsTG) c.249-10_249-9delinsTG (n.249-10_249-9delinsTG) c.308-10_308-9delinsTG c.1440-10_1440-9delinsTG (n.1440-10_1440-9delinsTG) c.2568-10_2568-9delinsTG (n.2568-10_2568-9delinsTG) c.2748-10_2748-9delinsTG (n.2748-10_2748-9delinsTG) c.2415-10_2415-9delinsTG (n.2415-10_2415-9delinsTG) | |
| 7 | g.117603523del | CA577222431 | CFTR | c.2658-9del (n.2658-9del) c.*2372-9del (n.*2372-9del) c.2475-9del (n.2475-9del) c.*958-9del (n.*958-9del) c.*2482-9del (n.*2482-9del) c.2232-9del (n.2232-9del) c.249-9del (n.249-9del) c.308-9del c.1440-9del (n.1440-9del) c.2568-9del (n.2568-9del) c.2748-9del (n.2748-9del) c.2415-9del (n.2415-9del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603524C>G | CA2695208417 | CFTR | c.2658-8C>G (n.2658-8C>G) c.*2372-8C>G (n.*2372-8C>G) c.2475-8C>G (n.2475-8C>G) c.*958-8C>G (n.*958-8C>G) c.*2482-8C>G (n.*2482-8C>G) c.2232-8C>G (n.2232-8C>G) c.249-8C>G (n.249-8C>G) c.308-8C>G c.1440-8C>G (n.1440-8C>G) c.2568-8C>G (n.2568-8C>G) c.2748-8C>G (n.2748-8C>G) c.2415-8C>G (n.2415-8C>G) | |
| 7 | g.117603524C>T | CA2499218687 | CFTR | c.2658-8C>T (n.2658-8C>T) c.*2372-8C>T (n.*2372-8C>T) c.2475-8C>T (n.2475-8C>T) c.*958-8C>T (n.*958-8C>T) c.*2482-8C>T (n.*2482-8C>T) c.2232-8C>T (n.2232-8C>T) c.249-8C>T (n.249-8C>T) c.308-8C>T c.1440-8C>T (n.1440-8C>T) c.2568-8C>T (n.2568-8C>T) c.2748-8C>T (n.2748-8C>T) c.2415-8C>T (n.2415-8C>T) | ClinVar dbSNP |
| 7 | g.117603525T>C | CA2684587828 | CFTR | c.2658-7T>C (n.2658-7T>C) c.*2372-7T>C (n.*2372-7T>C) c.2475-7T>C (n.2475-7T>C) c.*958-7T>C (n.*958-7T>C) c.*2482-7T>C (n.*2482-7T>C) c.2232-7T>C (n.2232-7T>C) c.249-7T>C (n.249-7T>C) c.308-7T>C c.1440-7T>C (n.1440-7T>C) c.2568-7T>C (n.2568-7T>C) c.2748-7T>C (n.2748-7T>C) c.2415-7T>C (n.2415-7T>C) | gnomAD v4 |
| 7 | g.117603526T>C | CA2499218688 | CFTR | c.2658-6T>C (n.2658-6T>C) c.*2372-6T>C (n.*2372-6T>C) c.2475-6T>C (n.2475-6T>C) c.*958-6T>C (n.*958-6T>C) c.*2482-6T>C (n.*2482-6T>C) c.2232-6T>C (n.2232-6T>C) c.249-6T>C (n.249-6T>C) c.308-6T>C c.1440-6T>C (n.1440-6T>C) c.2568-6T>C (n.2568-6T>C) c.2748-6T>C (n.2748-6T>C) c.2415-6T>C (n.2415-6T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603527T>C | CA2579000226 | CFTR | c.2658-5T>C (n.2658-5T>C) c.*2372-5T>C (n.*2372-5T>C) c.2475-5T>C (n.2475-5T>C) c.*958-5T>C (n.*958-5T>C) c.*2482-5T>C (n.*2482-5T>C) c.2232-5T>C (n.2232-5T>C) c.249-5T>C (n.249-5T>C) c.308-5T>C c.1440-5T>C (n.1440-5T>C) c.2568-5T>C (n.2568-5T>C) c.2748-5T>C (n.2748-5T>C) c.2415-5T>C (n.2415-5T>C) | ClinVar gnomAD v4 |
| 7 | g.117603528A>G | CA2573141556 | CFTR | c.2658-4A>G (n.2658-4A>G) c.*2372-4A>G (n.*2372-4A>G) c.2475-4A>G (n.2475-4A>G) c.*958-4A>G (n.*958-4A>G) c.*2482-4A>G (n.*2482-4A>G) c.2232-4A>G (n.2232-4A>G) c.249-4A>G (n.249-4A>G) c.308-4A>G c.1440-4A>G (n.1440-4A>G) c.2568-4A>G (n.2568-4A>G) c.2748-4A>G (n.2748-4A>G) c.2415-4A>G (n.2415-4A>G) | ClinVar dbSNP |
| 7 | g.117603529C>A | CA577222432 | CFTR | c.2658-3C>A (n.2658-3C>A) c.*2372-3C>A (n.*2372-3C>A) c.2475-3C>A (n.2475-3C>A) c.*958-3C>A (n.*958-3C>A) c.*2482-3C>A (n.*2482-3C>A) c.2232-3C>A (n.2232-3C>A) c.249-3C>A (n.249-3C>A) c.308-3C>A c.1440-3C>A (n.1440-3C>A) c.2568-3C>A (n.2568-3C>A) c.2748-3C>A (n.2748-3C>A) c.2415-3C>A (n.2415-3C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603529C= | CA1737374375 | CFTR | c.2658-3C= (n.2658-3C=) c.*2372-3C= (n.*2372-3C=) c.2475-3C= (n.2475-3C=) c.*958-3C= (n.*958-3C=) c.*2482-3C= (n.*2482-3C=) c.2232-3C= (n.2232-3C=) c.249-3C= (n.249-3C=) c.308-3C= c.1440-3C= (n.1440-3C=) c.2568-3C= (n.2568-3C=) c.2748-3C= (n.2748-3C=) c.2415-3C= (n.2415-3C=) | |
| 7 | g.117603529C>G | CA577222433 | CFTR | c.2658-3C>G (n.2658-3C>G) c.*2372-3C>G (n.*2372-3C>G) c.2475-3C>G (n.2475-3C>G) c.*958-3C>G (n.*958-3C>G) c.*2482-3C>G (n.*2482-3C>G) c.2232-3C>G (n.2232-3C>G) c.249-3C>G (n.249-3C>G) c.308-3C>G c.1440-3C>G (n.1440-3C>G) c.2568-3C>G (n.2568-3C>G) c.2748-3C>G (n.2748-3C>G) c.2415-3C>G (n.2415-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603529C>T | CA1106308497 | CFTR | c.2658-3C>T (n.2658-3C>T) c.*2372-3C>T (n.*2372-3C>T) c.2475-3C>T (n.2475-3C>T) c.*958-3C>T (n.*958-3C>T) c.*2482-3C>T (n.*2482-3C>T) c.2232-3C>T (n.2232-3C>T) c.249-3C>T (n.249-3C>T) c.308-3C>T c.1440-3C>T (n.1440-3C>T) c.2568-3C>T (n.2568-3C>T) c.2748-3C>T (n.2748-3C>T) c.2415-3C>T (n.2415-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603530A= | CA1737374382 | CFTR | c.2658-2A= (n.2658-2A=) c.*2372-2A= (n.*2372-2A=) c.2475-2A= (n.2475-2A=) c.*958-2A= (n.*958-2A=) c.*2482-2A= (n.*2482-2A=) c.2232-2A= (n.2232-2A=) c.249-2A= (n.249-2A=) c.308-2A= c.1440-2A= (n.1440-2A=) c.2568-2A= (n.2568-2A=) c.2748-2A= (n.2748-2A=) c.2415-2A= (n.2415-2A=) | |
| 7 | g.117603530A>C | CA368986368 | CFTR | c.2658-2A>C (n.2658-2A>C) c.*2372-2A>C (n.*2372-2A>C) c.2475-2A>C (n.2475-2A>C) c.*958-2A>C (n.*958-2A>C) c.*2482-2A>C (n.*2482-2A>C) c.2232-2A>C (n.2232-2A>C) c.249-2A>C (n.249-2A>C) c.308-2A>C c.1440-2A>C (n.1440-2A>C) c.2568-2A>C (n.2568-2A>C) c.2748-2A>C (n.2748-2A>C) c.2415-2A>C (n.2415-2A>C) | |
| 7 | g.117603530A>G | CA368986369 | CFTR | c.2658-2A>G (n.2658-2A>G) c.*2372-2A>G (n.*2372-2A>G) c.2475-2A>G (n.2475-2A>G) c.*958-2A>G (n.*958-2A>G) c.*2482-2A>G (n.*2482-2A>G) c.2232-2A>G (n.2232-2A>G) c.249-2A>G (n.249-2A>G) c.308-2A>G c.1440-2A>G (n.1440-2A>G) c.2568-2A>G (n.2568-2A>G) c.2748-2A>G (n.2748-2A>G) c.2415-2A>G (n.2415-2A>G) | ClinVar dbSNP |
| 7 | g.117603530A>T | CA368986370 | CFTR | c.2658-2A>T (n.2658-2A>T) c.*2372-2A>T (n.*2372-2A>T) c.2475-2A>T (n.2475-2A>T) c.*958-2A>T (n.*958-2A>T) c.*2482-2A>T (n.*2482-2A>T) c.2232-2A>T (n.2232-2A>T) c.249-2A>T (n.249-2A>T) c.308-2A>T c.1440-2A>T (n.1440-2A>T) c.2568-2A>T (n.2568-2A>T) c.2748-2A>T (n.2748-2A>T) c.2415-2A>T (n.2415-2A>T) | |
| 7 | g.117603531G>A | CA368986371 | CFTR | c.2658-1G>A (n.2658-1G>A) c.*2372-1G>A (n.*2372-1G>A) c.2475-1G>A (n.2475-1G>A) c.*958-1G>A (n.*958-1G>A) c.*2482-1G>A (n.*2482-1G>A) c.2232-1G>A (n.2232-1G>A) c.249-1G>A (n.249-1G>A) c.308-1G>A c.1440-1G>A (n.1440-1G>A) c.2568-1G>A (n.2568-1G>A) c.2748-1G>A (n.2748-1G>A) c.2415-1G>A (n.2415-1G>A) | gnomAD v4 |
| 7 | g.117603531G>C | CA276109 | CFTR | c.2658-1G>C (n.2658-1G>C) c.*2372-1G>C (n.*2372-1G>C) c.2475-1G>C (n.2475-1G>C) c.*958-1G>C (n.*958-1G>C) c.*2482-1G>C (n.*2482-1G>C) c.2232-1G>C (n.2232-1G>C) c.249-1G>C (n.249-1G>C) c.308-1G>C c.1440-1G>C (n.1440-1G>C) c.2568-1G>C (n.2568-1G>C) c.2748-1G>C (n.2748-1G>C) c.2415-1G>C (n.2415-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603531G= | CA1737374386 | CFTR | c.2658-1G= (n.2658-1G=) c.*2372-1G= (n.*2372-1G=) c.2475-1G= (n.2475-1G=) c.*958-1G= (n.*958-1G=) c.*2482-1G= (n.*2482-1G=) c.2232-1G= (n.2232-1G=) c.249-1G= (n.249-1G=) c.308-1G= c.1440-1G= (n.1440-1G=) c.2568-1G= (n.2568-1G=) c.2748-1G= (n.2748-1G=) c.2415-1G= (n.2415-1G=) | |
| 7 | g.117603531G>T | CA326881 | CFTR | c.2658-1G>T (n.2658-1G>T) c.*2372-1G>T (n.*2372-1G>T) c.2475-1G>T (n.2475-1G>T) c.*958-1G>T (n.*958-1G>T) c.*2482-1G>T (n.*2482-1G>T) c.2232-1G>T (n.2232-1G>T) c.249-1G>T (n.249-1G>T) c.308-1G>T c.1440-1G>T (n.1440-1G>T) c.2568-1G>T (n.2568-1G>T) c.2748-1G>T (n.2748-1G>T) c.2415-1G>T (n.2415-1G>T) | ClinVar dbSNP |
| 7 | g.117603532C>A | CA368986372 | CFTR | c.2658C>A (p.Asn886Lys) c.*2372C>A (n.*2372C>A) c.2475C>A (p.Asn825Lys) c.*958C>A (n.*958C>A) c.*2482C>A (n.*2482C>A) c.2232C>A (p.Asn744Lys) c.249C>A (p.Asn83Lys) c.308C>A c.1440C>A (p.Asn480Lys) c.2568C>A (p.Asn856Lys) c.2748C>A (p.Asn916Lys) c.2415C>A (p.Asn805Lys) | |
| 7 | g.117603532C>G | CA368986373 | CFTR | c.2658C>G (p.Asn886Lys) c.*2372C>G (n.*2372C>G) c.2475C>G (p.Asn825Lys) c.*958C>G (n.*958C>G) c.*2482C>G (n.*2482C>G) c.2232C>G (p.Asn744Lys) c.249C>G (p.Asn83Lys) c.308C>G c.1440C>G (p.Asn480Lys) c.2568C>G (p.Asn856Lys) c.2748C>G (p.Asn916Lys) c.2415C>G (p.Asn805Lys) | |
| 7 | g.117603532C>T | CA457227853 | CFTR | c.2658C>T (p.Asn886=) c.*2372C>T (n.*2372C>T) c.2475C>T (p.Asn825=) c.*958C>T (n.*958C>T) c.*2482C>T (n.*2482C>T) c.2232C>T (p.Asn744=) c.249C>T (p.Asn83=) c.308C>T c.1440C>T (p.Asn480=) c.2568C>T (p.Asn856=) c.2748C>T (p.Asn916=) c.2415C>T (p.Asn805=) | gnomAD v4 |
| 7 | g.117603533A= | CA1737374398 | CFTR | c.2659A= (p.Thr887=) c.*2373A= (n.*2373A=) c.2476A= (p.Thr826=) c.*959A= (n.*959A=) c.*2483A= (n.*2483A=) c.2233A= (p.Thr745=) c.250A= (p.Thr84=) c.309A= c.1441A= (p.Thr481=) c.2569A= (p.Thr857=) c.2749A= (p.Thr917=) c.2416A= (p.Thr806=) | |
| 7 | g.117603533A>C | CA4451266 | CFTR | c.2659A>C (p.Thr887Pro) c.*2373A>C (n.*2373A>C) c.2476A>C (p.Thr826Pro) c.*959A>C (n.*959A>C) c.*2483A>C (n.*2483A>C) c.2233A>C (p.Thr745Pro) c.250A>C (p.Thr84Pro) c.309A>C c.1441A>C (p.Thr481Pro) c.2569A>C (p.Thr857Pro) c.2749A>C (p.Thr917Pro) c.2416A>C (p.Thr806Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603533A>G | CA368986374 | CFTR | c.2659A>G (p.Thr887Ala) c.*2373A>G (n.*2373A>G) c.2476A>G (p.Thr826Ala) c.*959A>G (n.*959A>G) c.*2483A>G (n.*2483A>G) c.2233A>G (p.Thr745Ala) c.250A>G (p.Thr84Ala) c.309A>G c.1441A>G (p.Thr481Ala) c.2569A>G (p.Thr857Ala) c.2749A>G (p.Thr917Ala) c.2416A>G (p.Thr806Ala) | |
| 7 | g.117603533A>T | CA368986375 | CFTR | c.2659A>T (p.Thr887Ser) c.*2373A>T (n.*2373A>T) c.2476A>T (p.Thr826Ser) c.*959A>T (n.*959A>T) c.*2483A>T (n.*2483A>T) c.2233A>T (p.Thr745Ser) c.250A>T (p.Thr84Ser) c.309A>T c.1441A>T (p.Thr481Ser) c.2569A>T (p.Thr857Ser) c.2749A>T (p.Thr917Ser) c.2416A>T (p.Thr806Ser) | |
| 7 | g.117603534C>A | CA4451267 | CFTR | c.2660C>A (p.Thr887Asn) c.*2374C>A (n.*2374C>A) c.2477C>A (p.Thr826Asn) c.*960C>A (n.*960C>A) c.*2484C>A (n.*2484C>A) c.2234C>A (p.Thr745Asn) c.251C>A (p.Thr84Asn) c.310C>A c.1442C>A (p.Thr481Asn) c.2570C>A (p.Thr857Asn) c.2750C>A (p.Thr917Asn) c.2417C>A (p.Thr806Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603534C= | CA1737374402 | CFTR | c.2660C= (p.Thr887=) c.*2374C= (n.*2374C=) c.2477C= (p.Thr826=) c.*960C= (n.*960C=) c.*2484C= (n.*2484C=) c.2234C= (p.Thr745=) c.251C= (p.Thr84=) c.310C= c.1442C= (p.Thr481=) c.2570C= (p.Thr857=) c.2750C= (p.Thr917=) c.2417C= (p.Thr806=) | |
| 7 | g.117603534C>G | CA368986376 | CFTR | c.2660C>G (p.Thr887Ser) c.*2374C>G (n.*2374C>G) c.2477C>G (p.Thr826Ser) c.*960C>G (n.*960C>G) c.*2484C>G (n.*2484C>G) c.2234C>G (p.Thr745Ser) c.251C>G (p.Thr84Ser) c.310C>G c.1442C>G (p.Thr481Ser) c.2570C>G (p.Thr857Ser) c.2750C>G (p.Thr917Ser) c.2417C>G (p.Thr806Ser) | |
| 7 | g.117603534C>T | CA368986377 | CFTR | c.2660C>T (p.Thr887Ile) c.*2374C>T (n.*2374C>T) c.2477C>T (p.Thr826Ile) c.*960C>T (n.*960C>T) c.*2484C>T (n.*2484C>T) c.2234C>T (p.Thr745Ile) c.251C>T (p.Thr84Ile) c.310C>T c.1442C>T (p.Thr481Ile) c.2570C>T (p.Thr857Ile) c.2750C>T (p.Thr917Ile) c.2417C>T (p.Thr806Ile) | |
| 7 | g.117603535T>A | CA457227855 | CFTR | c.2661T>A (p.Thr887=) c.*2375T>A (n.*2375T>A) c.2478T>A (p.Thr826=) c.*961T>A (n.*961T>A) c.*2485T>A (n.*2485T>A) c.2235T>A (p.Thr745=) c.252T>A (p.Thr84=) c.311T>A c.1443T>A (p.Thr481=) c.2571T>A (p.Thr857=) c.2751T>A (p.Thr917=) c.2418T>A (p.Thr806=) | |
| 7 | g.117603535T>C | CA457227856 | CFTR | c.2661T>C (p.Thr887=) c.*2375T>C (n.*2375T>C) c.2478T>C (p.Thr826=) c.*961T>C (n.*961T>C) c.*2485T>C (n.*2485T>C) c.2235T>C (p.Thr745=) c.252T>C (p.Thr84=) c.311T>C c.1443T>C (p.Thr481=) c.2571T>C (p.Thr857=) c.2751T>C (p.Thr917=) c.2418T>C (p.Thr806=) | |
| 7 | g.117603535T>G | CA457227857 | CFTR | c.2661T>G (p.Thr887=) c.*2375T>G (n.*2375T>G) c.2478T>G (p.Thr826=) c.*961T>G (n.*961T>G) c.*2485T>G (n.*2485T>G) c.2235T>G (p.Thr745=) c.252T>G (p.Thr84=) c.311T>G c.1443T>G (p.Thr481=) c.2571T>G (p.Thr857=) c.2751T>G (p.Thr917=) c.2418T>G (p.Thr806=) | |
| 7 | g.117603536C>A | CA368986378 | CFTR | c.2662C>A (p.Pro888Thr) c.*2376C>A (n.*2376C>A) c.2479C>A (p.Pro827Thr) c.*962C>A (n.*962C>A) c.*2486C>A (n.*2486C>A) c.2236C>A (p.Pro746Thr) c.253C>A (p.Pro85Thr) c.312C>A c.1444C>A (p.Pro482Thr) c.2572C>A (p.Pro858Thr) c.2752C>A (p.Pro918Thr) c.2419C>A (p.Pro807Thr) | |
| 7 | g.117603536C>G | CA368986379 | CFTR | c.2662C>G (p.Pro888Ala) c.*2376C>G (n.*2376C>G) c.2479C>G (p.Pro827Ala) c.*962C>G (n.*962C>G) c.*2486C>G (n.*2486C>G) c.2236C>G (p.Pro746Ala) c.253C>G (p.Pro85Ala) c.312C>G c.1444C>G (p.Pro482Ala) c.2572C>G (p.Pro858Ala) c.2752C>G (p.Pro918Ala) c.2419C>G (p.Pro807Ala) | COSMIC |
| 7 | g.117603536C>T | CA368986380 | CFTR | c.2662C>T (p.Pro888Ser) c.*2376C>T (n.*2376C>T) c.2479C>T (p.Pro827Ser) c.*962C>T (n.*962C>T) c.*2486C>T (n.*2486C>T) c.2236C>T (p.Pro746Ser) c.253C>T (p.Pro85Ser) c.312C>T c.1444C>T (p.Pro482Ser) c.2572C>T (p.Pro858Ser) c.2752C>T (p.Pro918Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 |
| 7 | g.117603537C>A | CA4451268 | CFTR | c.2663C>A (p.Pro888His) c.*2377C>A (n.*2377C>A) c.2480C>A (p.Pro827His) c.*963C>A (n.*963C>A) c.*2487C>A (n.*2487C>A) c.2237C>A (p.Pro746His) c.254C>A (p.Pro85His) c.313C>A c.1445C>A (p.Pro482His) c.2573C>A (p.Pro858His) c.2753C>A (p.Pro918His) c.2420C>A (p.Pro807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603537C= | CA1737374406 | CFTR | c.2663C= (p.Pro888=) c.*2377C= (n.*2377C=) c.2480C= (p.Pro827=) c.*963C= (n.*963C=) c.*2487C= (n.*2487C=) c.2237C= (p.Pro746=) c.254C= (p.Pro85=) c.313C= c.1445C= (p.Pro482=) c.2573C= (p.Pro858=) c.2753C= (p.Pro918=) c.2420C= (p.Pro807=) | |
| 7 | g.117603537C>G | CA368986381 | CFTR | c.2663C>G (p.Pro888Arg) c.*2377C>G (n.*2377C>G) c.2480C>G (p.Pro827Arg) c.*963C>G (n.*963C>G) c.*2487C>G (n.*2487C>G) c.2237C>G (p.Pro746Arg) c.254C>G (p.Pro85Arg) c.313C>G c.1445C>G (p.Pro482Arg) c.2573C>G (p.Pro858Arg) c.2753C>G (p.Pro918Arg) c.2420C>G (p.Pro807Arg) | gnomAD v4 |
| 7 | g.117603537C>T | CA368986382 | CFTR | c.2663C>T (p.Pro888Leu) c.*2377C>T (n.*2377C>T) c.2480C>T (p.Pro827Leu) c.*963C>T (n.*963C>T) c.*2487C>T (n.*2487C>T) c.2237C>T (p.Pro746Leu) c.254C>T (p.Pro85Leu) c.313C>T c.1445C>T (p.Pro482Leu) c.2573C>T (p.Pro858Leu) c.2753C>T (p.Pro918Leu) c.2420C>T (p.Pro807Leu) | |
| 7 | g.117603538T>A | CA457227859 | CFTR | c.2664T>A (p.Pro888=) c.*2378T>A (n.*2378T>A) c.2481T>A (p.Pro827=) c.*964T>A (n.*964T>A) c.*2488T>A (n.*2488T>A) c.2238T>A (p.Pro746=) c.255T>A (p.Pro85=) c.314T>A c.1446T>A (p.Pro482=) c.2574T>A (p.Pro858=) c.2754T>A (p.Pro918=) c.2421T>A (p.Pro807=) | |
| 7 | g.117603538T>C | CA457227860 | CFTR | c.2664T>C (p.Pro888=) c.*2378T>C (n.*2378T>C) c.2481T>C (p.Pro827=) c.*964T>C (n.*964T>C) c.*2488T>C (n.*2488T>C) c.2238T>C (p.Pro746=) c.255T>C (p.Pro85=) c.314T>C c.1446T>C (p.Pro482=) c.2574T>C (p.Pro858=) c.2754T>C (p.Pro918=) c.2421T>C (p.Pro807=) | gnomAD v4 |
| 7 | g.117603538T>G | CA457227861 | CFTR | c.2664T>G (p.Pro888=) c.*2378T>G (n.*2378T>G) c.2481T>G (p.Pro827=) c.*964T>G (n.*964T>G) c.*2488T>G (n.*2488T>G) c.2238T>G (p.Pro746=) c.255T>G (p.Pro85=) c.314T>G c.1446T>G (p.Pro482=) c.2574T>G (p.Pro858=) c.2754T>G (p.Pro918=) c.2421T>G (p.Pro807=) | |
| 7 | g.117603540_117603542del | CA2579000227 | CFTR | c.2666_2668del (p.Leu889del) c.*2380_*2382del (n.*2380_*2382del) c.2483_2485del (p.Leu828del) c.*966_*968del (n.*966_*968del) c.*2490_*2492del (n.*2490_*2492del) c.2240_2242del (p.Leu747del) c.257_259del (p.Leu86del) c.316_318del c.1448_1450del (p.Leu483del) c.2576_2578del (p.Leu859del) c.2756_2758del (p.Leu919del) c.2423_2425del (p.Leu808del) | |
| 7 | g.117603539C>A | CA368986384 | CFTR | c.2665C>A (p.Leu889Ile) c.*2379C>A (n.*2379C>A) c.2482C>A (p.Leu828Ile) c.*965C>A (n.*965C>A) c.*2489C>A (n.*2489C>A) c.2239C>A (p.Leu747Ile) c.256C>A (p.Leu86Ile) c.315C>A c.1447C>A (p.Leu483Ile) c.2575C>A (p.Leu859Ile) c.2755C>A (p.Leu919Ile) c.2422C>A (p.Leu808Ile) | |
| 7 | g.117603539C= | CA1737374415 | CFTR | c.2665C= (p.Leu889=) c.*2379C= (n.*2379C=) c.2482C= (p.Leu828=) c.*965C= (n.*965C=) c.*2489C= (n.*2489C=) c.2239C= (p.Leu747=) c.256C= (p.Leu86=) c.315C= c.1447C= (p.Leu483=) c.2575C= (p.Leu859=) c.2755C= (p.Leu919=) c.2422C= (p.Leu808=) | |
| 7 | g.117603539C>G | CA368986383 | CFTR | c.2665C>G (p.Leu889Val) c.*2379C>G (n.*2379C>G) c.2482C>G (p.Leu828Val) c.*965C>G (n.*965C>G) c.*2489C>G (n.*2489C>G) c.2239C>G (p.Leu747Val) c.256C>G (p.Leu86Val) c.315C>G c.1447C>G (p.Leu483Val) c.2575C>G (p.Leu859Val) c.2755C>G (p.Leu919Val) c.2422C>G (p.Leu808Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603539C>T | CA4451269 | CFTR | c.2665C>T (p.Leu889Phe) c.*2379C>T (n.*2379C>T) c.2482C>T (p.Leu828Phe) c.*965C>T (n.*965C>T) c.*2489C>T (n.*2489C>T) c.2239C>T (p.Leu747Phe) c.256C>T (p.Leu86Phe) c.315C>T c.1447C>T (p.Leu483Phe) c.2575C>T (p.Leu859Phe) c.2755C>T (p.Leu919Phe) c.2422C>T (p.Leu808Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603540T>A | CA368986385 | CFTR | c.2666T>A (p.Leu889His) c.*2380T>A (n.*2380T>A) c.2483T>A (p.Leu828His) c.*966T>A (n.*966T>A) c.*2490T>A (n.*2490T>A) c.2240T>A (p.Leu747His) c.257T>A (p.Leu86His) c.316T>A c.1448T>A (p.Leu483His) c.2576T>A (p.Leu859His) c.2756T>A (p.Leu919His) c.2423T>A (p.Leu808His) | |
| 7 | g.117603540T>C | CA368986386 | CFTR | c.2666T>C (p.Leu889Pro) c.*2380T>C (n.*2380T>C) c.2483T>C (p.Leu828Pro) c.*966T>C (n.*966T>C) c.*2490T>C (n.*2490T>C) c.2240T>C (p.Leu747Pro) c.257T>C (p.Leu86Pro) c.316T>C c.1448T>C (p.Leu483Pro) c.2576T>C (p.Leu859Pro) c.2756T>C (p.Leu919Pro) c.2423T>C (p.Leu808Pro) | |
| 7 | g.117603540T>G | CA368986387 | CFTR | c.2666T>G (p.Leu889Arg) c.*2380T>G (n.*2380T>G) c.2483T>G (p.Leu828Arg) c.*966T>G (n.*966T>G) c.*2490T>G (n.*2490T>G) c.2240T>G (p.Leu747Arg) c.257T>G (p.Leu86Arg) c.316T>G c.1448T>G (p.Leu483Arg) c.2576T>G (p.Leu859Arg) c.2756T>G (p.Leu919Arg) c.2423T>G (p.Leu808Arg) | |
| 7 | g.117603541T>A | CA457227862 | CFTR | c.2667T>A (p.Leu889=) c.*2381T>A (n.*2381T>A) c.2484T>A (p.Leu828=) c.*967T>A (n.*967T>A) c.*2491T>A (n.*2491T>A) c.2241T>A (p.Leu747=) c.258T>A (p.Leu86=) c.317T>A c.1449T>A (p.Leu483=) c.2577T>A (p.Leu859=) c.2757T>A (p.Leu919=) c.2424T>A (p.Leu808=) | |
| 7 | g.117603541T>C | CA457227864 | CFTR | c.2667T>C (p.Leu889=) c.*2381T>C (n.*2381T>C) c.2484T>C (p.Leu828=) c.*967T>C (n.*967T>C) c.*2491T>C (n.*2491T>C) c.2241T>C (p.Leu747=) c.258T>C (p.Leu86=) c.317T>C c.1449T>C (p.Leu483=) c.2577T>C (p.Leu859=) c.2757T>C (p.Leu919=) c.2424T>C (p.Leu808=) | |
| 7 | g.117603541T>G | CA457227865 | CFTR | c.2667T>G (p.Leu889=) c.*2381T>G (n.*2381T>G) c.2484T>G (p.Leu828=) c.*967T>G (n.*967T>G) c.*2491T>G (n.*2491T>G) c.2241T>G (p.Leu747=) c.258T>G (p.Leu86=) c.317T>G c.1449T>G (p.Leu483=) c.2577T>G (p.Leu859=) c.2757T>G (p.Leu919=) c.2424T>G (p.Leu808=) | |
| 7 | g.117603542C>A | CA368986388 | CFTR | c.2668C>A (p.Gln890Lys) c.*2382C>A (n.*2382C>A) c.2485C>A (p.Gln829Lys) c.*968C>A (n.*968C>A) c.*2492C>A (n.*2492C>A) c.2242C>A (p.Gln748Lys) c.259C>A (p.Gln87Lys) c.318C>A c.1450C>A (p.Gln484Lys) c.2578C>A (p.Gln860Lys) c.2758C>A (p.Gln920Lys) c.2425C>A (p.Gln809Lys) | |
| 7 | g.117603542C= | CA1737374421 | CFTR | c.2668C= (p.Gln890=) c.*2382C= (n.*2382C=) c.2485C= (p.Gln829=) c.*968C= (n.*968C=) c.*2492C= (n.*2492C=) c.2242C= (p.Gln748=) c.259C= (p.Gln87=) c.318C= c.1450C= (p.Gln484=) c.2578C= (p.Gln860=) c.2758C= (p.Gln920=) c.2425C= (p.Gln809=) | |
| 7 | g.117603542C>G | CA368986389 | CFTR | c.2668C>G (p.Gln890Glu) c.*2382C>G (n.*2382C>G) c.2485C>G (p.Gln829Glu) c.*968C>G (n.*968C>G) c.*2492C>G (n.*2492C>G) c.2242C>G (p.Gln748Glu) c.259C>G (p.Gln87Glu) c.318C>G c.1450C>G (p.Gln484Glu) c.2578C>G (p.Gln860Glu) c.2758C>G (p.Gln920Glu) c.2425C>G (p.Gln809Glu) | |
| 7 | g.117603542C>T | CA325590 | CFTR | c.2668C>T (p.Gln890Ter) c.*2382C>T (n.*2382C>T) c.2485C>T (p.Gln829Ter) c.*968C>T (n.*968C>T) c.*2492C>T (n.*2492C>T) c.2242C>T (p.Gln748Ter) c.259C>T (p.Gln87Ter) c.318C>T c.1450C>T (p.Gln484Ter) c.2578C>T (p.Gln860Ter) c.2758C>T (p.Gln920Ter) c.2425C>T (p.Gln809Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603543A= | CA1737374427 | CFTR | c.2669A= (p.Gln890=) c.*2383A= (n.*2383A=) c.2486A= (p.Gln829=) c.*969A= (n.*969A=) c.*2493A= (n.*2493A=) c.2243A= (p.Gln748=) c.260A= (p.Gln87=) c.319A= c.1451A= (p.Gln484=) c.2579A= (p.Gln860=) c.2759A= (p.Gln920=) c.2426A= (p.Gln809=) | |
| 7 | g.117603543A>C | CA368986390 | CFTR | c.2669A>C (p.Gln890Pro) c.*2383A>C (n.*2383A>C) c.2486A>C (p.Gln829Pro) c.*969A>C (n.*969A>C) c.*2493A>C (n.*2493A>C) c.2243A>C (p.Gln748Pro) c.260A>C (p.Gln87Pro) c.319A>C c.1451A>C (p.Gln484Pro) c.2579A>C (p.Gln860Pro) c.2759A>C (p.Gln920Pro) c.2426A>C (p.Gln809Pro) | |
| 7 | g.117603543A>G | CA326882 | CFTR | c.2669A>G (p.Gln890Arg) c.*2383A>G (n.*2383A>G) c.2486A>G (p.Gln829Arg) c.*969A>G (n.*969A>G) c.*2493A>G (n.*2493A>G) c.2243A>G (p.Gln748Arg) c.260A>G (p.Gln87Arg) c.319A>G c.1451A>G (p.Gln484Arg) c.2579A>G (p.Gln860Arg) c.2759A>G (p.Gln920Arg) c.2426A>G (p.Gln809Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603543A>T | CA368986391 | CFTR | c.2669A>T (p.Gln890Leu) c.*2383A>T (n.*2383A>T) c.2486A>T (p.Gln829Leu) c.*969A>T (n.*969A>T) c.*2493A>T (n.*2493A>T) c.2243A>T (p.Gln748Leu) c.260A>T (p.Gln87Leu) c.319A>T c.1451A>T (p.Gln484Leu) c.2579A>T (p.Gln860Leu) c.2759A>T (p.Gln920Leu) c.2426A>T (p.Gln809Leu) | |
| 7 | g.117603544A>C | CA368986392 | CFTR | c.2670A>C (p.Gln890His) c.*2384A>C (n.*2384A>C) c.2487A>C (p.Gln829His) c.*970A>C (n.*970A>C) c.*2494A>C (n.*2494A>C) c.2244A>C (p.Gln748His) c.261A>C (p.Gln87His) c.320A>C c.1452A>C (p.Gln484His) c.2580A>C (p.Gln860His) c.2760A>C (p.Gln920His) c.2427A>C (p.Gln809His) | |
| 7 | g.117603544A>G | CA457227866 | CFTR | c.2670A>G (p.Gln890=) c.*2384A>G (n.*2384A>G) c.2487A>G (p.Gln829=) c.*970A>G (n.*970A>G) c.*2494A>G (n.*2494A>G) c.2244A>G (p.Gln748=) c.261A>G (p.Gln87=) c.320A>G c.1452A>G (p.Gln484=) c.2580A>G (p.Gln860=) c.2760A>G (p.Gln920=) c.2427A>G (p.Gln809=) | |
| 7 | g.117603544A>T | CA368986393 | CFTR | c.2670A>T (p.Gln890His) c.*2384A>T (n.*2384A>T) c.2487A>T (p.Gln829His) c.*970A>T (n.*970A>T) c.*2494A>T (n.*2494A>T) c.2244A>T (p.Gln748His) c.261A>T (p.Gln87His) c.320A>T c.1452A>T (p.Gln484His) c.2580A>T (p.Gln860His) c.2760A>T (p.Gln920His) c.2427A>T (p.Gln809His) | |
| 7 | g.117603545G>A | CA4451270 | CFTR | c.2671G>A (p.Asp891Asn) c.*2385G>A (n.*2385G>A) c.2488G>A (p.Asp830Asn) c.*971G>A (n.*971G>A) c.*2495G>A (n.*2495G>A) c.2245G>A (p.Asp749Asn) c.262G>A (p.Asp88Asn) c.321G>A c.1453G>A (p.Asp485Asn) c.2581G>A (p.Asp861Asn) c.2761G>A (p.Asp921Asn) c.2428G>A (p.Asp810Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603545G>C | CA368986394 | CFTR | c.2671G>C (p.Asp891His) c.*2385G>C (n.*2385G>C) c.2488G>C (p.Asp830His) c.*971G>C (n.*971G>C) c.*2495G>C (n.*2495G>C) c.2245G>C (p.Asp749His) c.262G>C (p.Asp88His) c.321G>C c.1453G>C (p.Asp485His) c.2581G>C (p.Asp861His) c.2761G>C (p.Asp921His) c.2428G>C (p.Asp810His) | |
| 7 | g.117603545G= | CA1737374430 | CFTR | c.2671G= (p.Asp891=) c.*2385G= (n.*2385G=) c.2488G= (p.Asp830=) c.*971G= (n.*971G=) c.*2495G= (n.*2495G=) c.2245G= (p.Asp749=) c.262G= (p.Asp88=) c.321G= c.1453G= (p.Asp485=) c.2581G= (p.Asp861=) c.2761G= (p.Asp921=) c.2428G= (p.Asp810=) | |
| 7 | g.117603545G>T | CA368986395 | CFTR | c.2671G>T (p.Asp891Tyr) c.*2385G>T (n.*2385G>T) c.2488G>T (p.Asp830Tyr) c.*971G>T (n.*971G>T) c.*2495G>T (n.*2495G>T) c.2245G>T (p.Asp749Tyr) c.262G>T (p.Asp88Tyr) c.321G>T c.1453G>T (p.Asp485Tyr) c.2581G>T (p.Asp861Tyr) c.2761G>T (p.Asp921Tyr) c.2428G>T (p.Asp810Tyr) | |
| 7 | g.117603546del | CA2695208418 | CFTR | c.2672del (p.Asp891AlafsTer15) c.*2386del (n.*2386del) c.2489del (p.Asp830AlafsTer15) c.*972del (n.*972del) c.*2496del (n.*2496del) c.2246del (p.Asp749AlafsTer15) c.263del (p.Asp88AlafsTer15) c.322del c.1454del (p.Asp485AlafsTer15) c.2582del (p.Asp861AlafsTer15) c.2762del (p.Asp921AlafsTer15) c.2429del (p.Asp810AlafsTer15) | |
| 7 | g.117603546A= | CA1737374437 | CFTR | c.2672A= (p.Asp891=) c.*2386A= (n.*2386A=) c.2489A= (p.Asp830=) c.*972A= (n.*972A=) c.*2496A= (n.*2496A=) c.2246A= (p.Asp749=) c.263A= (p.Asp88=) c.322A= c.1454A= (p.Asp485=) c.2582A= (p.Asp861=) c.2762A= (p.Asp921=) c.2429A= (p.Asp810=) | |
| 7 | g.117603546A>C | CA368986396 | CFTR | c.2672A>C (p.Asp891Ala) c.*2386A>C (n.*2386A>C) c.2489A>C (p.Asp830Ala) c.*972A>C (n.*972A>C) c.*2496A>C (n.*2496A>C) c.2246A>C (p.Asp749Ala) c.263A>C (p.Asp88Ala) c.322A>C c.1454A>C (p.Asp485Ala) c.2582A>C (p.Asp861Ala) c.2762A>C (p.Asp921Ala) c.2429A>C (p.Asp810Ala) | |
| 7 | g.117603546A>G | CA4451271 | CFTR | c.2672A>G (p.Asp891Gly) c.*2386A>G (n.*2386A>G) c.2489A>G (p.Asp830Gly) c.*972A>G (n.*972A>G) c.*2496A>G (n.*2496A>G) c.2246A>G (p.Asp749Gly) c.263A>G (p.Asp88Gly) c.322A>G c.1454A>G (p.Asp485Gly) c.2582A>G (p.Asp861Gly) c.2762A>G (p.Asp921Gly) c.2429A>G (p.Asp810Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603546A>T | CA368986397 | CFTR | c.2672A>T (p.Asp891Val) c.*2386A>T (n.*2386A>T) c.2489A>T (p.Asp830Val) c.*972A>T (n.*972A>T) c.*2496A>T (n.*2496A>T) c.2246A>T (p.Asp749Val) c.263A>T (p.Asp88Val) c.322A>T c.1454A>T (p.Asp485Val) c.2582A>T (p.Asp861Val) c.2762A>T (p.Asp921Val) c.2429A>T (p.Asp810Val) | |
| 7 | g.117603547C>A | CA368986398 | CFTR | c.2673C>A (p.Asp891Glu) c.*2387C>A (n.*2387C>A) c.2490C>A (p.Asp830Glu) c.*973C>A (n.*973C>A) c.*2497C>A (n.*2497C>A) c.2247C>A (p.Asp749Glu) c.264C>A (p.Asp88Glu) c.323C>A c.1455C>A (p.Asp485Glu) c.2583C>A (p.Asp861Glu) c.2763C>A (p.Asp921Glu) c.2430C>A (p.Asp810Glu) | |
| 7 | g.117603547C= | CA1737374448 | CFTR | c.2673C= (p.Asp891=) c.*2387C= (n.*2387C=) c.2490C= (p.Asp830=) c.*973C= (n.*973C=) c.*2497C= (n.*2497C=) c.2247C= (p.Asp749=) c.264C= (p.Asp88=) c.323C= c.1455C= (p.Asp485=) c.2583C= (p.Asp861=) c.2763C= (p.Asp921=) c.2430C= (p.Asp810=) | |
| 7 | g.117603547C>G | CA368986399 | CFTR | c.2673C>G (p.Asp891Glu) c.*2387C>G (n.*2387C>G) c.2490C>G (p.Asp830Glu) c.*973C>G (n.*973C>G) c.*2497C>G (n.*2497C>G) c.2247C>G (p.Asp749Glu) c.264C>G (p.Asp88Glu) c.323C>G c.1455C>G (p.Asp485Glu) c.2583C>G (p.Asp861Glu) c.2763C>G (p.Asp921Glu) c.2430C>G (p.Asp810Glu) | ClinVar dbSNP |
| 7 | g.117603547C>T | CA4451272 | CFTR | c.2673C>T (p.Asp891=) c.*2387C>T (n.*2387C>T) c.2490C>T (p.Asp830=) c.*973C>T (n.*973C>T) c.*2497C>T (n.*2497C>T) c.2247C>T (p.Asp749=) c.264C>T (p.Asp88=) c.323C>T c.1455C>T (p.Asp485=) c.2583C>T (p.Asp861=) c.2763C>T (p.Asp921=) c.2430C>T (p.Asp810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603548A>C | CA368986400 | CFTR | c.2674A>C (p.Lys892Gln) c.*2388A>C (n.*2388A>C) c.2491A>C (p.Lys831Gln) c.*974A>C (n.*974A>C) c.*2498A>C (n.*2498A>C) c.2248A>C (p.Lys750Gln) c.265A>C (p.Lys89Gln) c.324A>C c.1456A>C (p.Lys486Gln) c.2584A>C (p.Lys862Gln) c.2764A>C (p.Lys922Gln) c.2431A>C (p.Lys811Gln) | |
| 7 | g.117603548A>G | CA368986402 | CFTR | c.2674A>G (p.Lys892Glu) c.*2388A>G (n.*2388A>G) c.2491A>G (p.Lys831Glu) c.*974A>G (n.*974A>G) c.*2498A>G (n.*2498A>G) c.2248A>G (p.Lys750Glu) c.265A>G (p.Lys89Glu) c.324A>G c.1456A>G (p.Lys486Glu) c.2584A>G (p.Lys862Glu) c.2764A>G (p.Lys922Glu) c.2431A>G (p.Lys811Glu) | |
| 7 | g.117603548A>T | CA368986401 | CFTR | c.2674A>T (p.Lys892Ter) c.*2388A>T (n.*2388A>T) c.2491A>T (p.Lys831Ter) c.*974A>T (n.*974A>T) c.*2498A>T (n.*2498A>T) c.2248A>T (p.Lys750Ter) c.265A>T (p.Lys89Ter) c.324A>T c.1456A>T (p.Lys486Ter) c.2584A>T (p.Lys862Ter) c.2764A>T (p.Lys922Ter) c.2431A>T (p.Lys811Ter) | |
| 7 | g.117603550del | CA2684587829 | CFTR | c.2676del (p.Asn894IlefsTer12) c.*2390del (n.*2390del) c.2493del (p.Asn833IlefsTer12) c.*976del (n.*976del) c.*2500del (n.*2500del) c.2250del (p.Asn752IlefsTer12) c.267del (p.Asn91IlefsTer12) c.326del c.1458del (p.Asn488IlefsTer12) c.2586del (p.Asn864IlefsTer12) c.2766del (p.Asn924IlefsTer12) c.2433del (p.Asn813IlefsTer12) | gnomAD v4 |
| 7 | g.117603549A>C | CA368986403 | CFTR | c.2675A>C (p.Lys892Thr) c.*2389A>C (n.*2389A>C) c.2492A>C (p.Lys831Thr) c.*975A>C (n.*975A>C) c.*2499A>C (n.*2499A>C) c.2249A>C (p.Lys750Thr) c.266A>C (p.Lys89Thr) c.325A>C c.1457A>C (p.Lys486Thr) c.2585A>C (p.Lys862Thr) c.2765A>C (p.Lys922Thr) c.2432A>C (p.Lys811Thr) | |
| 7 | g.117603549A>G | CA368986405 | CFTR | c.2675A>G (p.Lys892Arg) c.*2389A>G (n.*2389A>G) c.2492A>G (p.Lys831Arg) c.*975A>G (n.*975A>G) c.*2499A>G (n.*2499A>G) c.2249A>G (p.Lys750Arg) c.266A>G (p.Lys89Arg) c.325A>G c.1457A>G (p.Lys486Arg) c.2585A>G (p.Lys862Arg) c.2765A>G (p.Lys922Arg) c.2432A>G (p.Lys811Arg) | |
| 7 | g.117603549A>T | CA368986404 | CFTR | c.2675A>T (p.Lys892Ile) c.*2389A>T (n.*2389A>T) c.2492A>T (p.Lys831Ile) c.*975A>T (n.*975A>T) c.*2499A>T (n.*2499A>T) c.2249A>T (p.Lys750Ile) c.266A>T (p.Lys89Ile) c.325A>T c.1457A>T (p.Lys486Ile) c.2585A>T (p.Lys862Ile) c.2765A>T (p.Lys922Ile) c.2432A>T (p.Lys811Ile) | |
| 7 | g.117603550A>C | CA368986406 | CFTR | c.2676A>C (p.Lys892Asn) c.*2390A>C (n.*2390A>C) c.2493A>C (p.Lys831Asn) c.*976A>C (n.*976A>C) c.*2500A>C (n.*2500A>C) c.2250A>C (p.Lys750Asn) c.267A>C (p.Lys89Asn) c.326A>C c.1458A>C (p.Lys486Asn) c.2586A>C (p.Lys862Asn) c.2766A>C (p.Lys922Asn) c.2433A>C (p.Lys811Asn) | |
| 7 | g.117603550A>G | CA457227870 | CFTR | c.2676A>G (p.Lys892=) c.*2390A>G (n.*2390A>G) c.2493A>G (p.Lys831=) c.*976A>G (n.*976A>G) c.*2500A>G (n.*2500A>G) c.2250A>G (p.Lys750=) c.267A>G (p.Lys89=) c.326A>G c.1458A>G (p.Lys486=) c.2586A>G (p.Lys862=) c.2766A>G (p.Lys922=) c.2433A>G (p.Lys811=) | |
| 7 | g.117603550A>T | CA368986407 | CFTR | c.2676A>T (p.Lys892Asn) c.*2390A>T (n.*2390A>T) c.2493A>T (p.Lys831Asn) c.*976A>T (n.*976A>T) c.*2500A>T (n.*2500A>T) c.2250A>T (p.Lys750Asn) c.267A>T (p.Lys89Asn) c.326A>T c.1458A>T (p.Lys486Asn) c.2586A>T (p.Lys862Asn) c.2766A>T (p.Lys922Asn) c.2433A>T (p.Lys811Asn) | |
| 7 | g.117603551G>A | CA368986408 | CFTR | c.2677G>A (p.Gly893Arg) c.*2391G>A (n.*2391G>A) c.2494G>A (p.Gly832Arg) c.*977G>A (n.*977G>A) c.*2501G>A (n.*2501G>A) c.2251G>A (p.Gly751Arg) c.268G>A (p.Gly90Arg) c.327G>A c.1459G>A (p.Gly487Arg) c.2587G>A (p.Gly863Arg) c.2767G>A (p.Gly923Arg) c.2434G>A (p.Gly812Arg) | ClinVar dbSNP COSMIC |
| 7 | g.117603551G>C | CA368986409 | CFTR | c.2677G>C (p.Gly893Arg) c.*2391G>C (n.*2391G>C) c.2494G>C (p.Gly832Arg) c.*977G>C (n.*977G>C) c.*2501G>C (n.*2501G>C) c.2251G>C (p.Gly751Arg) c.268G>C (p.Gly90Arg) c.327G>C c.1459G>C (p.Gly487Arg) c.2587G>C (p.Gly863Arg) c.2767G>C (p.Gly923Arg) c.2434G>C (p.Gly812Arg) | |
| 7 | g.117603551G= | CA1737374458 | CFTR | c.2677G= (p.Gly893=) c.*2391G= (n.*2391G=) c.2494G= (p.Gly832=) c.*977G= (n.*977G=) c.*2501G= (n.*2501G=) c.2251G= (p.Gly751=) c.268G= (p.Gly90=) c.327G= c.1459G= (p.Gly487=) c.2587G= (p.Gly863=) c.2767G= (p.Gly923=) c.2434G= (p.Gly812=) | |
| 7 | g.117603551G>T | CA368986410 | CFTR | c.2677G>T (p.Gly893Trp) c.*2391G>T (n.*2391G>T) c.2494G>T (p.Gly832Trp) c.*977G>T (n.*977G>T) c.*2501G>T (n.*2501G>T) c.2251G>T (p.Gly751Trp) c.268G>T (p.Gly90Trp) c.327G>T c.1459G>T (p.Gly487Trp) c.2587G>T (p.Gly863Trp) c.2767G>T (p.Gly923Trp) c.2434G>T (p.Gly812Trp) | |
| 7 | g.117603552G>A | CA368986411 | CFTR | c.2678G>A (p.Gly893Glu) c.*2392G>A (n.*2392G>A) c.2495G>A (p.Gly832Glu) c.*978G>A (n.*978G>A) c.*2502G>A (n.*2502G>A) c.2252G>A (p.Gly751Glu) c.269G>A (p.Gly90Glu) c.328G>A c.1460G>A (p.Gly487Glu) c.2588G>A (p.Gly863Glu) c.2768G>A (p.Gly923Glu) c.2435G>A (p.Gly812Glu) | |
| 7 | g.117603552G>C | CA368986412 | CFTR | c.2678G>C (p.Gly893Ala) c.*2392G>C (n.*2392G>C) c.2495G>C (p.Gly832Ala) c.*978G>C (n.*978G>C) c.*2502G>C (n.*2502G>C) c.2252G>C (p.Gly751Ala) c.269G>C (p.Gly90Ala) c.328G>C c.1460G>C (p.Gly487Ala) c.2588G>C (p.Gly863Ala) c.2768G>C (p.Gly923Ala) c.2435G>C (p.Gly812Ala) | |
| 7 | g.117603552G>T | CA368986413 | CFTR | c.2678G>T (p.Gly893Val) c.*2392G>T (n.*2392G>T) c.2495G>T (p.Gly832Val) c.*978G>T (n.*978G>T) c.*2502G>T (n.*2502G>T) c.2252G>T (p.Gly751Val) c.269G>T (p.Gly90Val) c.328G>T c.1460G>T (p.Gly487Val) c.2588G>T (p.Gly863Val) c.2768G>T (p.Gly923Val) c.2435G>T (p.Gly812Val) | COSMIC |
| 7 | g.117603553G>A | CA457227872 | CFTR | c.2679G>A (p.Gly893=) c.*2393G>A (n.*2393G>A) c.2496G>A (p.Gly832=) c.*979G>A (n.*979G>A) c.*2503G>A (n.*2503G>A) c.2253G>A (p.Gly751=) c.270G>A (p.Gly90=) c.329G>A c.1461G>A (p.Gly487=) c.2589G>A (p.Gly863=) c.2769G>A (p.Gly923=) c.2436G>A (p.Gly812=) | COSMIC |
| 7 | g.117603553G>C | CA457227873 | CFTR | c.2679G>C (p.Gly893=) c.*2393G>C (n.*2393G>C) c.2496G>C (p.Gly832=) c.*979G>C (n.*979G>C) c.*2503G>C (n.*2503G>C) c.2253G>C (p.Gly751=) c.270G>C (p.Gly90=) c.329G>C c.1461G>C (p.Gly487=) c.2589G>C (p.Gly863=) c.2769G>C (p.Gly923=) c.2436G>C (p.Gly812=) | gnomAD v4 |
| 7 | g.117603553G= | CA1737374466 | CFTR | c.2679G= (p.Gly893=) c.*2393G= (n.*2393G=) c.2496G= (p.Gly832=) c.*979G= (n.*979G=) c.*2503G= (n.*2503G=) c.2253G= (p.Gly751=) c.270G= (p.Gly90=) c.329G= c.1461G= (p.Gly487=) c.2589G= (p.Gly863=) c.2769G= (p.Gly923=) c.2436G= (p.Gly812=) | |
| 7 | g.117603553G>T | CA326886 | CFTR | c.2679G>T (p.Gly893=) c.*2393G>T (n.*2393G>T) c.2496G>T (p.Gly832=) c.*979G>T (n.*979G>T) c.*2503G>T (n.*2503G>T) c.2253G>T (p.Gly751=) c.270G>T (p.Gly90=) c.329G>T c.1461G>T (p.Gly487=) c.2589G>T (p.Gly863=) c.2769G>T (p.Gly923=) c.2436G>T (p.Gly812=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117603554A>C | CA368986414 | CFTR | c.2680A>C (p.Asn894His) c.*2394A>C (n.*2394A>C) c.2497A>C (p.Asn833His) c.*980A>C (n.*980A>C) c.*2504A>C (n.*2504A>C) c.2254A>C (p.Asn752His) c.271A>C (p.Asn91His) c.330A>C c.1462A>C (p.Asn488His) c.2590A>C (p.Asn864His) c.2770A>C (p.Asn924His) c.2437A>C (p.Asn813His) | |
| 7 | g.117603554A>G | CA368986415 | CFTR | c.2680A>G (p.Asn894Asp) c.*2394A>G (n.*2394A>G) c.2497A>G (p.Asn833Asp) c.*980A>G (n.*980A>G) c.*2504A>G (n.*2504A>G) c.2254A>G (p.Asn752Asp) c.271A>G (p.Asn91Asp) c.330A>G c.1462A>G (p.Asn488Asp) c.2590A>G (p.Asn864Asp) c.2770A>G (p.Asn924Asp) c.2437A>G (p.Asn813Asp) | |
| 7 | g.117603554A>T | CA368986416 | CFTR | c.2680A>T (p.Asn894Tyr) c.*2394A>T (n.*2394A>T) c.2497A>T (p.Asn833Tyr) c.*980A>T (n.*980A>T) c.*2504A>T (n.*2504A>T) c.2254A>T (p.Asn752Tyr) c.271A>T (p.Asn91Tyr) c.330A>T c.1462A>T (p.Asn488Tyr) c.2590A>T (p.Asn864Tyr) c.2770A>T (p.Asn924Tyr) c.2437A>T (p.Asn813Tyr) | |
| 7 | g.117603555A= | CA1737374475 | CFTR | c.2681A= (p.Asn894=) c.*2395A= (n.*2395A=) c.2498A= (p.Asn833=) c.*981A= (n.*981A=) c.*2505A= (n.*2505A=) c.2255A= (p.Asn752=) c.272A= (p.Asn91=) c.331A= c.1463A= (p.Asn488=) c.2591A= (p.Asn864=) c.2771A= (p.Asn924=) c.2438A= (p.Asn813=) | |
| 7 | g.117603555A>C | CA368986419 | CFTR | c.2681A>C (p.Asn894Thr) c.*2395A>C (n.*2395A>C) c.2498A>C (p.Asn833Thr) c.*981A>C (n.*981A>C) c.*2505A>C (n.*2505A>C) c.2255A>C (p.Asn752Thr) c.272A>C (p.Asn91Thr) c.331A>C c.1463A>C (p.Asn488Thr) c.2591A>C (p.Asn864Thr) c.2771A>C (p.Asn924Thr) c.2438A>C (p.Asn813Thr) | ClinVar dbSNP |
| 7 | g.117603555A>G | CA368986417 | CFTR | c.2681A>G (p.Asn894Ser) c.*2395A>G (n.*2395A>G) c.2498A>G (p.Asn833Ser) c.*981A>G (n.*981A>G) c.*2505A>G (n.*2505A>G) c.2255A>G (p.Asn752Ser) c.272A>G (p.Asn91Ser) c.331A>G c.1463A>G (p.Asn488Ser) c.2591A>G (p.Asn864Ser) c.2771A>G (p.Asn924Ser) c.2438A>G (p.Asn813Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603555A>T | CA368986418 | CFTR | c.2681A>T (p.Asn894Ile) c.*2395A>T (n.*2395A>T) c.2498A>T (p.Asn833Ile) c.*981A>T (n.*981A>T) c.*2505A>T (n.*2505A>T) c.2255A>T (p.Asn752Ile) c.272A>T (p.Asn91Ile) c.331A>T c.1463A>T (p.Asn488Ile) c.2591A>T (p.Asn864Ile) c.2771A>T (p.Asn924Ile) c.2438A>T (p.Asn813Ile) | |
| 7 | g.117603556T>A | CA368986420 | CFTR | c.2682T>A (p.Asn894Lys) c.*2396T>A (n.*2396T>A) c.2499T>A (p.Asn833Lys) c.*982T>A (n.*982T>A) c.*2506T>A (n.*2506T>A) c.2256T>A (p.Asn752Lys) c.273T>A (p.Asn91Lys) c.332T>A c.1464T>A (p.Asn488Lys) c.2592T>A (p.Asn864Lys) c.2772T>A (p.Asn924Lys) c.2439T>A (p.Asn813Lys) | |
| 7 | g.117603556T>C | CA457227874 | CFTR | c.2682T>C (p.Asn894=) c.*2396T>C (n.*2396T>C) c.2499T>C (p.Asn833=) c.*982T>C (n.*982T>C) c.*2506T>C (n.*2506T>C) c.2256T>C (p.Asn752=) c.273T>C (p.Asn91=) c.332T>C c.1464T>C (p.Asn488=) c.2592T>C (p.Asn864=) c.2772T>C (p.Asn924=) c.2439T>C (p.Asn813=) | |
| 7 | g.117603556T>G | CA368986421 | CFTR | c.2682T>G (p.Asn894Lys) c.*2396T>G (n.*2396T>G) c.2499T>G (p.Asn833Lys) c.*982T>G (n.*982T>G) c.*2506T>G (n.*2506T>G) c.2256T>G (p.Asn752Lys) c.273T>G (p.Asn91Lys) c.332T>G c.1464T>G (p.Asn488Lys) c.2592T>G (p.Asn864Lys) c.2772T>G (p.Asn924Lys) c.2439T>G (p.Asn813Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603556T= | CA1737374477 | CFTR | c.2682T= (p.Asn894=) c.*2396T= (n.*2396T=) c.2499T= (p.Asn833=) c.*982T= (n.*982T=) c.*2506T= (n.*2506T=) c.2256T= (p.Asn752=) c.273T= (p.Asn91=) c.332T= c.1464T= (p.Asn488=) c.2592T= (p.Asn864=) c.2772T= (p.Asn924=) c.2439T= (p.Asn813=) | |
| 7 | g.117603557A= | CA1737374479 | CFTR | c.2683A= (p.Ser895=) c.*2397A= (n.*2397A=) c.2500A= (p.Ser834=) c.*983A= (n.*983A=) c.*2507A= (n.*2507A=) c.2257A= (p.Ser753=) c.274A= (p.Ser92=) c.333A= c.1465A= (p.Ser489=) c.2593A= (p.Ser865=) c.2773A= (p.Ser925=) c.2440A= (p.Ser814=) | |
| 7 | g.117603557A>C | CA368986422 | CFTR | c.2683A>C (p.Ser895Arg) c.*2397A>C (n.*2397A>C) c.2500A>C (p.Ser834Arg) c.*983A>C (n.*983A>C) c.*2507A>C (n.*2507A>C) c.2257A>C (p.Ser753Arg) c.274A>C (p.Ser92Arg) c.333A>C c.1465A>C (p.Ser489Arg) c.2593A>C (p.Ser865Arg) c.2773A>C (p.Ser925Arg) c.2440A>C (p.Ser814Arg) | gnomAD v4 |
| 7 | g.117603557A>G | CA368986423 | CFTR | c.2683A>G (p.Ser895Gly) c.*2397A>G (n.*2397A>G) c.2500A>G (p.Ser834Gly) c.*983A>G (n.*983A>G) c.*2507A>G (n.*2507A>G) c.2257A>G (p.Ser753Gly) c.274A>G (p.Ser92Gly) c.333A>G c.1465A>G (p.Ser489Gly) c.2593A>G (p.Ser865Gly) c.2773A>G (p.Ser925Gly) c.2440A>G (p.Ser814Gly) | ClinVar dbSNP |
| 7 | g.117603557A>T | CA368986424 | CFTR | c.2683A>T (p.Ser895Cys) c.*2397A>T (n.*2397A>T) c.2500A>T (p.Ser834Cys) c.*983A>T (n.*983A>T) c.*2507A>T (n.*2507A>T) c.2257A>T (p.Ser753Cys) c.274A>T (p.Ser92Cys) c.333A>T c.1465A>T (p.Ser489Cys) c.2593A>T (p.Ser865Cys) c.2773A>T (p.Ser925Cys) c.2440A>T (p.Ser814Cys) | |
| 7 | g.117603558G>A | CA326888 | CFTR | c.2684G>A (p.Ser895Asn) c.*2398G>A (n.*2398G>A) c.2501G>A (p.Ser834Asn) c.*984G>A (n.*984G>A) c.*2508G>A (n.*2508G>A) c.2258G>A (p.Ser753Asn) c.275G>A (p.Ser92Asn) c.334G>A c.1466G>A (p.Ser489Asn) c.2594G>A (p.Ser865Asn) c.2774G>A (p.Ser925Asn) c.2441G>A (p.Ser814Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603558G>C | CA4451273 | CFTR | c.2684G>C (p.Ser895Thr) c.*2398G>C (n.*2398G>C) c.2501G>C (p.Ser834Thr) c.*984G>C (n.*984G>C) c.*2508G>C (n.*2508G>C) c.2258G>C (p.Ser753Thr) c.275G>C (p.Ser92Thr) c.334G>C c.1466G>C (p.Ser489Thr) c.2594G>C (p.Ser865Thr) c.2774G>C (p.Ser925Thr) c.2441G>C (p.Ser814Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603558G= | CA1737374486 | CFTR | c.2684G= (p.Ser895=) c.*2398G= (n.*2398G=) c.2501G= (p.Ser834=) c.*984G= (n.*984G=) c.*2508G= (n.*2508G=) c.2258G= (p.Ser753=) c.275G= (p.Ser92=) c.334G= c.1466G= (p.Ser489=) c.2594G= (p.Ser865=) c.2774G= (p.Ser925=) c.2441G= (p.Ser814=) | |
| 7 | g.117603558G>T | CA368986425 | CFTR | c.2684G>T (p.Ser895Ile) c.*2398G>T (n.*2398G>T) c.2501G>T (p.Ser834Ile) c.*984G>T (n.*984G>T) c.*2508G>T (n.*2508G>T) c.2258G>T (p.Ser753Ile) c.275G>T (p.Ser92Ile) c.334G>T c.1466G>T (p.Ser489Ile) c.2594G>T (p.Ser865Ile) c.2774G>T (p.Ser925Ile) c.2441G>T (p.Ser814Ile) | |
| 7 | g.117603559T>A | CA368986426 | CFTR | c.2685T>A (p.Ser895Arg) c.*2399T>A (n.*2399T>A) c.2502T>A (p.Ser834Arg) c.*985T>A (n.*985T>A) c.*2509T>A (n.*2509T>A) c.2259T>A (p.Ser753Arg) c.276T>A (p.Ser92Arg) c.335T>A c.1467T>A (p.Ser489Arg) c.2595T>A (p.Ser865Arg) c.2775T>A (p.Ser925Arg) c.2442T>A (p.Ser814Arg) | |
| 7 | g.117603559T>C | CA457227876 | CFTR | c.2685T>C (p.Ser895=) c.*2399T>C (n.*2399T>C) c.2502T>C (p.Ser834=) c.*985T>C (n.*985T>C) c.*2509T>C (n.*2509T>C) c.2259T>C (p.Ser753=) c.276T>C (p.Ser92=) c.335T>C c.1467T>C (p.Ser489=) c.2595T>C (p.Ser865=) c.2775T>C (p.Ser925=) c.2442T>C (p.Ser814=) | COSMIC |
| 7 | g.117603559T>G | CA368986427 | CFTR | c.2685T>G (p.Ser895Arg) c.*2399T>G (n.*2399T>G) c.2502T>G (p.Ser834Arg) c.*985T>G (n.*985T>G) c.*2509T>G (n.*2509T>G) c.2259T>G (p.Ser753Arg) c.276T>G (p.Ser92Arg) c.335T>G c.1467T>G (p.Ser489Arg) c.2595T>G (p.Ser865Arg) c.2775T>G (p.Ser925Arg) c.2442T>G (p.Ser814Arg) | |
| 7 | g.117603560A>C | CA368986430 | CFTR | c.2686A>C (p.Thr896Pro) c.*2400A>C (n.*2400A>C) c.2503A>C (p.Thr835Pro) c.*986A>C (n.*986A>C) c.*2510A>C (n.*2510A>C) c.2260A>C (p.Thr754Pro) c.277A>C (p.Thr93Pro) c.336A>C c.1468A>C (p.Thr490Pro) c.2596A>C (p.Thr866Pro) c.2776A>C (p.Thr926Pro) c.2443A>C (p.Thr815Pro) | |
| 7 | g.117603560A>G | CA368986429 | CFTR | c.2686A>G (p.Thr896Ala) c.*2400A>G (n.*2400A>G) c.2503A>G (p.Thr835Ala) c.*986A>G (n.*986A>G) c.*2510A>G (n.*2510A>G) c.2260A>G (p.Thr754Ala) c.277A>G (p.Thr93Ala) c.336A>G c.1468A>G (p.Thr490Ala) c.2596A>G (p.Thr866Ala) c.2776A>G (p.Thr926Ala) c.2443A>G (p.Thr815Ala) | |
| 7 | g.117603560A>T | CA368986428 | CFTR | c.2686A>T (p.Thr896Ser) c.*2400A>T (n.*2400A>T) c.2503A>T (p.Thr835Ser) c.*986A>T (n.*986A>T) c.*2510A>T (n.*2510A>T) c.2260A>T (p.Thr754Ser) c.277A>T (p.Thr93Ser) c.336A>T c.1468A>T (p.Thr490Ser) c.2596A>T (p.Thr866Ser) c.2776A>T (p.Thr926Ser) c.2443A>T (p.Thr815Ser) | |
| 7 | g.117603560_117603564delinsACTCA | CA1737374498 | CFTR | c.2686_2690delinsACTCA (p.Thr896=) c.*2400_*2404delinsACTCA (n.*2400_*2404delinsACTCA) c.2503_2507delinsACTCA (p.Thr835=) c.*986_*990delinsACTCA (n.*986_*990delinsACTCA) c.*2510_*2514delinsACTCA (n.*2510_*2514delinsACTCA) c.2260_2264delinsACTCA (p.Thr754=) c.277_281delinsACTCA (p.Thr93=) c.336_340delinsACTCA c.1468_1472delinsACTCA (p.Thr490=) c.2596_2600delinsACTCA (p.Thr866=) c.2776_2780delinsACTCA (p.Thr926=) c.2443_2447delinsACTCA (p.Thr815=) | |
| 7 | g.117603561del | CA2579000228 | CFTR | c.2687del (p.Thr896IlefsTer10) c.*2401del (n.*2401del) c.2504del (p.Thr835IlefsTer10) c.*987del (n.*987del) c.*2511del (n.*2511del) c.2261del (p.Thr754IlefsTer10) c.278del (p.Thr93IlefsTer10) c.337del c.1469del (p.Thr490IlefsTer10) c.2597del (p.Thr866IlefsTer10) c.2777del (p.Thr926IlefsTer10) c.2444del (p.Thr815IlefsTer10) | |
| 7 | g.117603561C>A | CA368986431 | CFTR | c.2687C>A (p.Thr896Asn) c.*2401C>A (n.*2401C>A) c.2504C>A (p.Thr835Asn) c.*987C>A (n.*987C>A) c.*2511C>A (n.*2511C>A) c.2261C>A (p.Thr754Asn) c.278C>A (p.Thr93Asn) c.337C>A c.1469C>A (p.Thr490Asn) c.2597C>A (p.Thr866Asn) c.2777C>A (p.Thr926Asn) c.2444C>A (p.Thr815Asn) | |
| 7 | g.117603561C= | CA1737374506 | CFTR | c.2687C= (p.Thr896=) c.*2401C= (n.*2401C=) c.2504C= (p.Thr835=) c.*987C= (n.*987C=) c.*2511C= (n.*2511C=) c.2261C= (p.Thr754=) c.278C= (p.Thr93=) c.337C= c.1469C= (p.Thr490=) c.2597C= (p.Thr866=) c.2777C= (p.Thr926=) c.2444C= (p.Thr815=) | |
| 7 | g.117603561C>G | CA368986432 | CFTR | c.2687C>G (p.Thr896Ser) c.*2401C>G (n.*2401C>G) c.2504C>G (p.Thr835Ser) c.*987C>G (n.*987C>G) c.*2511C>G (n.*2511C>G) c.2261C>G (p.Thr754Ser) c.278C>G (p.Thr93Ser) c.337C>G c.1469C>G (p.Thr490Ser) c.2597C>G (p.Thr866Ser) c.2777C>G (p.Thr926Ser) c.2444C>G (p.Thr815Ser) | |
| 7 | g.117603561C>T | CA4451274 | CFTR | c.2687C>T (p.Thr896Ile) c.*2401C>T (n.*2401C>T) c.2504C>T (p.Thr835Ile) c.*987C>T (n.*987C>T) c.*2511C>T (n.*2511C>T) c.2261C>T (p.Thr754Ile) c.278C>T (p.Thr93Ile) c.337C>T c.1469C>T (p.Thr490Ile) c.2597C>T (p.Thr866Ile) c.2777C>T (p.Thr926Ile) c.2444C>T (p.Thr815Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117603561_117603564delinsTGAGTACTATGAG | CA326890 | CFTR | c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) c.*2401_*2404delinsTGAGTACTATGAG (n.*2401_*2404delinsTGAGTACTATGAG) c.2504_2507delinsTGAGTACTATGAG (p.Thr835_His836delinsMetSerThrMetSer) c.*987_*990delinsTGAGTACTATGAG (n.*987_*990delinsTGAGTACTATGAG) c.*2511_*2514delinsTGAGTACTATGAG (n.*2511_*2514delinsTGAGTACTATGAG) c.2261_2264delinsTGAGTACTATGAG (p.Thr754_His755delinsMetSerThrMetSer) c.278_281delinsTGAGTACTATGAG (p.Thr93_His94delinsMetSerThrMetSer) c.337_340delinsTGAGTACTATGAG c.1469_1472delinsTGAGTACTATGAG (p.Thr490_His491delinsMetSerThrMetSer) c.2597_2600delinsTGAGTACTATGAG (p.Thr866_His867delinsMetSerThrMetSer) c.2777_2780delinsTGAGTACTATGAG (p.Thr926_His927delinsMetSerThrMetSer) c.2444_2447delinsTGAGTACTATGAG (p.Thr815_His816delinsMetSerThrMetSer) | ClinVar dbSNP |
| 7 | g.117603562T>A | CA457227879 | CFTR | c.2688T>A (p.Thr896=) c.*2402T>A (n.*2402T>A) c.2505T>A (p.Thr835=) c.*988T>A (n.*988T>A) c.*2512T>A (n.*2512T>A) c.2262T>A (p.Thr754=) c.279T>A (p.Thr93=) c.338T>A c.1470T>A (p.Thr490=) c.2598T>A (p.Thr866=) c.2778T>A (p.Thr926=) c.2445T>A (p.Thr815=) | |
| 7 | g.117603562T>C | CA457227880 | CFTR | c.2688T>C (p.Thr896=) c.*2402T>C (n.*2402T>C) c.2505T>C (p.Thr835=) c.*988T>C (n.*988T>C) c.*2512T>C (n.*2512T>C) c.2262T>C (p.Thr754=) c.279T>C (p.Thr93=) c.338T>C c.1470T>C (p.Thr490=) c.2598T>C (p.Thr866=) c.2778T>C (p.Thr926=) c.2445T>C (p.Thr815=) | |
| 7 | g.117603562T>G | CA457227881 | CFTR | c.2688T>G (p.Thr896=) c.*2402T>G (n.*2402T>G) c.2505T>G (p.Thr835=) c.*988T>G (n.*988T>G) c.*2512T>G (n.*2512T>G) c.2262T>G (p.Thr754=) c.279T>G (p.Thr93=) c.338T>G c.1470T>G (p.Thr490=) c.2598T>G (p.Thr866=) c.2778T>G (p.Thr926=) c.2445T>G (p.Thr815=) | |
| 7 | g.117603563C>A | CA368986433 | CFTR | c.2689C>A (p.His897Asn) c.*2403C>A (n.*2403C>A) c.2506C>A (p.His836Asn) c.*989C>A (n.*989C>A) c.*2513C>A (n.*2513C>A) c.2263C>A (p.His755Asn) c.280C>A (p.His94Asn) c.339C>A c.1471C>A (p.His491Asn) c.2599C>A (p.His867Asn) c.2779C>A (p.His927Asn) c.2446C>A (p.His816Asn) | |
| 7 | g.117603563C= | CA1737374515 | CFTR | c.2689C= (p.His897=) c.*2403C= (n.*2403C=) c.2506C= (p.His836=) c.*989C= (n.*989C=) c.*2513C= (n.*2513C=) c.2263C= (p.His755=) c.280C= (p.His94=) c.339C= c.1471C= (p.His491=) c.2599C= (p.His867=) c.2779C= (p.His927=) c.2446C= (p.His816=) | |
| 7 | g.117603563C>G | CA368986434 | CFTR | c.2689C>G (p.His897Asp) c.*2403C>G (n.*2403C>G) c.2506C>G (p.His836Asp) c.*989C>G (n.*989C>G) c.*2513C>G (n.*2513C>G) c.2263C>G (p.His755Asp) c.280C>G (p.His94Asp) c.339C>G c.1471C>G (p.His491Asp) c.2599C>G (p.His867Asp) c.2779C>G (p.His927Asp) c.2446C>G (p.His816Asp) | |
| 7 | g.117603563C>T | CA4451275 | CFTR | c.2689C>T (p.His897Tyr) c.*2403C>T (n.*2403C>T) c.2506C>T (p.His836Tyr) c.*989C>T (n.*989C>T) c.*2513C>T (n.*2513C>T) c.2263C>T (p.His755Tyr) c.280C>T (p.His94Tyr) c.339C>T c.1471C>T (p.His491Tyr) c.2599C>T (p.His867Tyr) c.2779C>T (p.His927Tyr) c.2446C>T (p.His816Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603564A>C | CA368986435 | CFTR | c.2690A>C (p.His897Pro) c.*2404A>C (n.*2404A>C) c.2507A>C (p.His836Pro) c.*990A>C (n.*990A>C) c.*2514A>C (n.*2514A>C) c.2264A>C (p.His755Pro) c.281A>C (p.His94Pro) c.340A>C c.1472A>C (p.His491Pro) c.2600A>C (p.His867Pro) c.2780A>C (p.His927Pro) c.2447A>C (p.His816Pro) | |
| 7 | g.117603564A>G | CA368986436 | CFTR | c.2690A>G (p.His897Arg) c.*2404A>G (n.*2404A>G) c.2507A>G (p.His836Arg) c.*990A>G (n.*990A>G) c.*2514A>G (n.*2514A>G) c.2264A>G (p.His755Arg) c.281A>G (p.His94Arg) c.340A>G c.1472A>G (p.His491Arg) c.2600A>G (p.His867Arg) c.2780A>G (p.His927Arg) c.2447A>G (p.His816Arg) | gnomAD v4 |
| 7 | g.117603564A>T | CA368986437 | CFTR | c.2690A>T (p.His897Leu) c.*2404A>T (n.*2404A>T) c.2507A>T (p.His836Leu) c.*990A>T (n.*990A>T) c.*2514A>T (n.*2514A>T) c.2264A>T (p.His755Leu) c.281A>T (p.His94Leu) c.340A>T c.1472A>T (p.His491Leu) c.2600A>T (p.His867Leu) c.2780A>T (p.His927Leu) c.2447A>T (p.His816Leu) | |
| 7 | g.117603564_117603565insGTACTATGAG | CA2579000229 | CFTR | c.2690_2691insGTACTATGAG (p.His897GlnfsTer5) c.*2404_*2405insGTACTATGAG (n.*2404_*2405insGTACTATGAG) c.2507_2508insGTACTATGAG (p.His836GlnfsTer5) c.*990_*991insGTACTATGAG (n.*990_*991insGTACTATGAG) c.*2514_*2515insGTACTATGAG (n.*2514_*2515insGTACTATGAG) c.2264_2265insGTACTATGAG (p.His755GlnfsTer5) c.281_282insGTACTATGAG (p.His94GlnfsTer5) c.340_341insGTACTATGAG c.1472_1473insGTACTATGAG (p.His491GlnfsTer5) c.2600_2601insGTACTATGAG (p.His867GlnfsTer5) c.2780_2781insGTACTATGAG (p.His927GlnfsTer5) c.2447_2448insGTACTATGAG (p.His816GlnfsTer5) | |
| 7 | g.117603565T>A | CA368986438 | CFTR | c.2691T>A (p.His897Gln) c.*2405T>A (n.*2405T>A) c.2508T>A (p.His836Gln) c.*991T>A (n.*991T>A) c.*2515T>A (n.*2515T>A) c.2265T>A (p.His755Gln) c.282T>A (p.His94Gln) c.341T>A c.1473T>A (p.His491Gln) c.2601T>A (p.His867Gln) c.2781T>A (p.His927Gln) c.2448T>A (p.His816Gln) | |
| 7 | g.117603565T>C | CA457227884 | CFTR | c.2691T>C (p.His897=) c.*2405T>C (n.*2405T>C) c.2508T>C (p.His836=) c.*991T>C (n.*991T>C) c.*2515T>C (n.*2515T>C) c.2265T>C (p.His755=) c.282T>C (p.His94=) c.341T>C c.1473T>C (p.His491=) c.2601T>C (p.His867=) c.2781T>C (p.His927=) c.2448T>C (p.His816=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603565T>G | CA368986439 | CFTR | c.2691T>G (p.His897Gln) c.*2405T>G (n.*2405T>G) c.2508T>G (p.His836Gln) c.*991T>G (n.*991T>G) c.*2515T>G (n.*2515T>G) c.2265T>G (p.His755Gln) c.282T>G (p.His94Gln) c.341T>G c.1473T>G (p.His491Gln) c.2601T>G (p.His867Gln) c.2781T>G (p.His927Gln) c.2448T>G (p.His816Gln) | |
| 7 | g.117603565T= | CA1737374520 | CFTR | c.2691T= (p.His897=) c.*2405T= (n.*2405T=) c.2508T= (p.His836=) c.*991T= (n.*991T=) c.*2515T= (n.*2515T=) c.2265T= (p.His755=) c.282T= (p.His94=) c.341T= c.1473T= (p.His491=) c.2601T= (p.His867=) c.2781T= (p.His927=) c.2448T= (p.His816=) | |
| 7 | g.117603566A= | CA1737374525 | CFTR | c.2692A= (p.Ser898=) c.*2406A= (n.*2406A=) c.2509A= (p.Ser837=) c.*992A= (n.*992A=) c.*2516A= (n.*2516A=) c.2266A= (p.Ser756=) c.283A= (p.Ser95=) c.342A= c.1474A= (p.Ser492=) c.2602A= (p.Ser868=) c.2782A= (p.Ser928=) c.2449A= (p.Ser817=) | |
| 7 | g.117603566A>C | CA368986442 | CFTR | c.2692A>C (p.Ser898Arg) c.*2406A>C (n.*2406A>C) c.2509A>C (p.Ser837Arg) c.*992A>C (n.*992A>C) c.*2516A>C (n.*2516A>C) c.2266A>C (p.Ser756Arg) c.283A>C (p.Ser95Arg) c.342A>C c.1474A>C (p.Ser492Arg) c.2602A>C (p.Ser868Arg) c.2782A>C (p.Ser928Arg) c.2449A>C (p.Ser817Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603566A>G | CA368986441 | CFTR | c.2692A>G (p.Ser898Gly) c.*2406A>G (n.*2406A>G) c.2509A>G (p.Ser837Gly) c.*992A>G (n.*992A>G) c.*2516A>G (n.*2516A>G) c.2266A>G (p.Ser756Gly) c.283A>G (p.Ser95Gly) c.342A>G c.1474A>G (p.Ser492Gly) c.2602A>G (p.Ser868Gly) c.2782A>G (p.Ser928Gly) c.2449A>G (p.Ser817Gly) | ClinVar |
| 7 | g.117603566A>T | CA368986440 | CFTR | c.2692A>T (p.Ser898Cys) c.*2406A>T (n.*2406A>T) c.2509A>T (p.Ser837Cys) c.*992A>T (n.*992A>T) c.*2516A>T (n.*2516A>T) c.2266A>T (p.Ser756Cys) c.283A>T (p.Ser95Cys) c.342A>T c.1474A>T (p.Ser492Cys) c.2602A>T (p.Ser868Cys) c.2782A>T (p.Ser928Cys) c.2449A>T (p.Ser817Cys) | |
| 7 | g.117603567G>A | CA368986443 | CFTR | c.2693G>A (p.Ser898Asn) c.*2407G>A (n.*2407G>A) c.2510G>A (p.Ser837Asn) c.*993G>A (n.*993G>A) c.*2517G>A (n.*2517G>A) c.2267G>A (p.Ser756Asn) c.284G>A (p.Ser95Asn) c.343G>A c.1475G>A (p.Ser492Asn) c.2603G>A (p.Ser868Asn) c.2783G>A (p.Ser928Asn) c.2450G>A (p.Ser817Asn) | gnomAD v4 |
| 7 | g.117603567G>C | CA368986444 | CFTR | c.2693G>C (p.Ser898Thr) c.*2407G>C (n.*2407G>C) c.2510G>C (p.Ser837Thr) c.*993G>C (n.*993G>C) c.*2517G>C (n.*2517G>C) c.2267G>C (p.Ser756Thr) c.284G>C (p.Ser95Thr) c.343G>C c.1475G>C (p.Ser492Thr) c.2603G>C (p.Ser868Thr) c.2783G>C (p.Ser928Thr) c.2450G>C (p.Ser817Thr) | |
| 7 | g.117603567G>T | CA368986445 | CFTR | c.2693G>T (p.Ser898Ile) c.*2407G>T (n.*2407G>T) c.2510G>T (p.Ser837Ile) c.*993G>T (n.*993G>T) c.*2517G>T (n.*2517G>T) c.2267G>T (p.Ser756Ile) c.284G>T (p.Ser95Ile) c.343G>T c.1475G>T (p.Ser492Ile) c.2603G>T (p.Ser868Ile) c.2783G>T (p.Ser928Ile) c.2450G>T (p.Ser817Ile) | |
| 7 | g.117603568T>A | CA368986446 | CFTR | c.2694T>A (p.Ser898Arg) c.*2408T>A (n.*2408T>A) c.2511T>A (p.Ser837Arg) c.*994T>A (n.*994T>A) c.*2518T>A (n.*2518T>A) c.2268T>A (p.Ser756Arg) c.285T>A (p.Ser95Arg) c.344T>A c.1476T>A (p.Ser492Arg) c.2604T>A (p.Ser868Arg) c.2784T>A (p.Ser928Arg) c.2451T>A (p.Ser817Arg) | |
| 7 | g.117603568T>C | CA457227886 | CFTR | c.2694T>C (p.Ser898=) c.*2408T>C (n.*2408T>C) c.2511T>C (p.Ser837=) c.*994T>C (n.*994T>C) c.*2518T>C (n.*2518T>C) c.2268T>C (p.Ser756=) c.285T>C (p.Ser95=) c.344T>C c.1476T>C (p.Ser492=) c.2604T>C (p.Ser868=) c.2784T>C (p.Ser928=) c.2451T>C (p.Ser817=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603568T>G | CA368986447 | CFTR | c.2694T>G (p.Ser898Arg) c.*2408T>G (n.*2408T>G) c.2511T>G (p.Ser837Arg) c.*994T>G (n.*994T>G) c.*2518T>G (n.*2518T>G) c.2268T>G (p.Ser756Arg) c.285T>G (p.Ser95Arg) c.344T>G c.1476T>G (p.Ser492Arg) c.2604T>G (p.Ser868Arg) c.2784T>G (p.Ser928Arg) c.2451T>G (p.Ser817Arg) | |
| 7 | g.117603569A>C | CA457227921 | CFTR | c.2695A>C (p.Arg899=) c.*2409A>C (n.*2409A>C) c.2512A>C (p.Arg838=) c.*995A>C (n.*995A>C) c.*2519A>C (n.*2519A>C) c.2269A>C (p.Arg757=) c.286A>C (p.Arg96=) c.345A>C c.1477A>C (p.Arg493=) c.2605A>C (p.Arg869=) c.2785A>C (p.Arg929=) c.2452A>C (p.Arg818=) | |
| 7 | g.117603569A>G | CA368986448 | CFTR | c.2695A>G (p.Arg899Gly) c.*2409A>G (n.*2409A>G) c.2512A>G (p.Arg838Gly) c.*995A>G (n.*995A>G) c.*2519A>G (n.*2519A>G) c.2269A>G (p.Arg757Gly) c.286A>G (p.Arg96Gly) c.345A>G c.1477A>G (p.Arg493Gly) c.2605A>G (p.Arg869Gly) c.2785A>G (p.Arg929Gly) c.2452A>G (p.Arg818Gly) | ClinVar |
| 7 | g.117603569A>T | CA368986449 | CFTR | c.2695A>T (p.Arg899Ter) c.*2409A>T (n.*2409A>T) c.2512A>T (p.Arg838Ter) c.*995A>T (n.*995A>T) c.*2519A>T (n.*2519A>T) c.2269A>T (p.Arg757Ter) c.286A>T (p.Arg96Ter) c.345A>T c.1477A>T (p.Arg493Ter) c.2605A>T (p.Arg869Ter) c.2785A>T (p.Arg929Ter) c.2452A>T (p.Arg818Ter) | |
| 7 | g.117603570G>A | CA368986450 | CFTR | c.2696G>A (p.Arg899Lys) c.*2410G>A (n.*2410G>A) c.2513G>A (p.Arg838Lys) c.*996G>A (n.*996G>A) c.*2520G>A (n.*2520G>A) c.2270G>A (p.Arg757Lys) c.287G>A (p.Arg96Lys) c.346G>A c.1478G>A (p.Arg493Lys) c.2606G>A (p.Arg869Lys) c.2786G>A (p.Arg929Lys) c.2453G>A (p.Arg818Lys) | |
| 7 | g.117603570G>C | CA368986451 | CFTR | c.2696G>C (p.Arg899Thr) c.*2410G>C (n.*2410G>C) c.2513G>C (p.Arg838Thr) c.*996G>C (n.*996G>C) c.*2520G>C (n.*2520G>C) c.2270G>C (p.Arg757Thr) c.287G>C (p.Arg96Thr) c.346G>C c.1478G>C (p.Arg493Thr) c.2606G>C (p.Arg869Thr) c.2786G>C (p.Arg929Thr) c.2453G>C (p.Arg818Thr) | |
| 7 | g.117603570G>T | CA368986452 | CFTR | c.2696G>T (p.Arg899Ile) c.*2410G>T (n.*2410G>T) c.2513G>T (p.Arg838Ile) c.*996G>T (n.*996G>T) c.*2520G>T (n.*2520G>T) c.2270G>T (p.Arg757Ile) c.287G>T (p.Arg96Ile) c.346G>T c.1478G>T (p.Arg493Ile) c.2606G>T (p.Arg869Ile) c.2786G>T (p.Arg929Ile) c.2453G>T (p.Arg818Ile) | |
| 7 | g.117603571A>C | CA368986453 | CFTR | c.2697A>C (p.Arg899Ser) c.*2411A>C (n.*2411A>C) c.2514A>C (p.Arg838Ser) c.*997A>C (n.*997A>C) c.*2521A>C (n.*2521A>C) c.2271A>C (p.Arg757Ser) c.288A>C (p.Arg96Ser) c.347A>C c.1479A>C (p.Arg493Ser) c.2607A>C (p.Arg869Ser) c.2787A>C (p.Arg929Ser) c.2454A>C (p.Arg818Ser) | |
| 7 | g.117603571A>G | CA457227922 | CFTR | c.2697A>G (p.Arg899=) c.*2411A>G (n.*2411A>G) c.2514A>G (p.Arg838=) c.*997A>G (n.*997A>G) c.*2521A>G (n.*2521A>G) c.2271A>G (p.Arg757=) c.288A>G (p.Arg96=) c.347A>G c.1479A>G (p.Arg493=) c.2607A>G (p.Arg869=) c.2787A>G (p.Arg929=) c.2454A>G (p.Arg818=) | ClinVar dbSNP |
| 7 | g.117603571A>T | CA368986454 | CFTR | c.2697A>T (p.Arg899Ser) c.*2411A>T (n.*2411A>T) c.2514A>T (p.Arg838Ser) c.*997A>T (n.*997A>T) c.*2521A>T (n.*2521A>T) c.2271A>T (p.Arg757Ser) c.288A>T (p.Arg96Ser) c.347A>T c.1479A>T (p.Arg493Ser) c.2607A>T (p.Arg869Ser) c.2787A>T (p.Arg929Ser) c.2454A>T (p.Arg818Ser) | |
| 7 | g.117603572A>C | CA368986457 | CFTR | c.2698A>C (p.Asn900His) c.*2412A>C (n.*2412A>C) c.2515A>C (p.Asn839His) c.*998A>C (n.*998A>C) c.*2522A>C (n.*2522A>C) c.2272A>C (p.Asn758His) c.289A>C (p.Asn97His) c.348A>C c.1480A>C (p.Asn494His) c.2608A>C (p.Asn870His) c.2788A>C (p.Asn930His) c.2455A>C (p.Asn819His) | |
| 7 | g.117603572A>G | CA368986456 | CFTR | c.2698A>G (p.Asn900Asp) c.*2412A>G (n.*2412A>G) c.2515A>G (p.Asn839Asp) c.*998A>G (n.*998A>G) c.*2522A>G (n.*2522A>G) c.2272A>G (p.Asn758Asp) c.289A>G (p.Asn97Asp) c.348A>G c.1480A>G (p.Asn494Asp) c.2608A>G (p.Asn870Asp) c.2788A>G (p.Asn930Asp) c.2455A>G (p.Asn819Asp) | |
| 7 | g.117603572A>T | CA368986455 | CFTR | c.2698A>T (p.Asn900Tyr) c.*2412A>T (n.*2412A>T) c.2515A>T (p.Asn839Tyr) c.*998A>T (n.*998A>T) c.*2522A>T (n.*2522A>T) c.2272A>T (p.Asn758Tyr) c.289A>T (p.Asn97Tyr) c.348A>T c.1480A>T (p.Asn494Tyr) c.2608A>T (p.Asn870Tyr) c.2788A>T (p.Asn930Tyr) c.2455A>T (p.Asn819Tyr) | |
| 7 | g.117603573A>C | CA368986458 | CFTR | c.2699A>C (p.Asn900Thr) c.*2413A>C (n.*2413A>C) c.2516A>C (p.Asn839Thr) c.*999A>C (n.*999A>C) c.*2523A>C (n.*2523A>C) c.2273A>C (p.Asn758Thr) c.290A>C (p.Asn97Thr) c.349A>C c.1481A>C (p.Asn494Thr) c.2609A>C (p.Asn870Thr) c.2789A>C (p.Asn930Thr) c.2456A>C (p.Asn819Thr) | |
| 7 | g.117603573A>G | CA368986460 | CFTR | c.2699A>G (p.Asn900Ser) c.*2413A>G (n.*2413A>G) c.2516A>G (p.Asn839Ser) c.*999A>G (n.*999A>G) c.*2523A>G (n.*2523A>G) c.2273A>G (p.Asn758Ser) c.290A>G (p.Asn97Ser) c.349A>G c.1481A>G (p.Asn494Ser) c.2609A>G (p.Asn870Ser) c.2789A>G (p.Asn930Ser) c.2456A>G (p.Asn819Ser) | |
| 7 | g.117603573A>T | CA368986459 | CFTR | c.2699A>T (p.Asn900Ile) c.*2413A>T (n.*2413A>T) c.2516A>T (p.Asn839Ile) c.*999A>T (n.*999A>T) c.*2523A>T (n.*2523A>T) c.2273A>T (p.Asn758Ile) c.290A>T (p.Asn97Ile) c.349A>T c.1481A>T (p.Asn494Ile) c.2609A>T (p.Asn870Ile) c.2789A>T (p.Asn930Ile) c.2456A>T (p.Asn819Ile) | |
| 7 | g.117603574T>A | CA273030 | CFTR | c.2700T>A (p.Asn900Lys) c.*2414T>A (n.*2414T>A) c.2517T>A (p.Asn839Lys) c.*1000T>A (n.*1000T>A) c.*2524T>A (n.*2524T>A) c.2274T>A (p.Asn758Lys) c.291T>A (p.Asn97Lys) c.350T>A c.1482T>A (p.Asn494Lys) c.2610T>A (p.Asn870Lys) c.2790T>A (p.Asn930Lys) c.2457T>A (p.Asn819Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117603574T>C | CA164959969 | CFTR | c.2700T>C (p.Asn900=) c.*2414T>C (n.*2414T>C) c.2517T>C (p.Asn839=) c.*1000T>C (n.*1000T>C) c.*2524T>C (n.*2524T>C) c.2274T>C (p.Asn758=) c.291T>C (p.Asn97=) c.350T>C c.1482T>C (p.Asn494=) c.2610T>C (p.Asn870=) c.2790T>C (p.Asn930=) c.2457T>C (p.Asn819=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603574T>G | CA368986461 | CFTR | c.2700T>G (p.Asn900Lys) c.*2414T>G (n.*2414T>G) c.2517T>G (p.Asn839Lys) c.*1000T>G (n.*1000T>G) c.*2524T>G (n.*2524T>G) c.2274T>G (p.Asn758Lys) c.291T>G (p.Asn97Lys) c.350T>G c.1482T>G (p.Asn494Lys) c.2610T>G (p.Asn870Lys) c.2790T>G (p.Asn930Lys) c.2457T>G (p.Asn819Lys) | |
| 7 | g.117603574T= | CA1737374534 | CFTR | c.2700T= (p.Asn900=) c.*2414T= (n.*2414T=) c.2517T= (p.Asn839=) c.*1000T= (n.*1000T=) c.*2524T= (n.*2524T=) c.2274T= (p.Asn758=) c.291T= (p.Asn97=) c.350T= c.1482T= (p.Asn494=) c.2610T= (p.Asn870=) c.2790T= (p.Asn930=) c.2457T= (p.Asn819=) | |
| 7 | g.117603575A>C | CA368986462 | CFTR | c.2701A>C (p.Asn901His) c.*2415A>C (n.*2415A>C) c.2518A>C (p.Asn840His) c.*1001A>C (n.*1001A>C) c.*2525A>C (n.*2525A>C) c.2275A>C (p.Asn759His) c.292A>C (p.Asn98His) c.351A>C c.1483A>C (p.Asn495His) c.2611A>C (p.Asn871His) c.2791A>C (p.Asn931His) c.2458A>C (p.Asn820His) | |
| 7 | g.117603575A>G | CA368986463 | CFTR | c.2701A>G (p.Asn901Asp) c.*2415A>G (n.*2415A>G) c.2518A>G (p.Asn840Asp) c.*1001A>G (n.*1001A>G) c.*2525A>G (n.*2525A>G) c.2275A>G (p.Asn759Asp) c.292A>G (p.Asn98Asp) c.351A>G c.1483A>G (p.Asn495Asp) c.2611A>G (p.Asn871Asp) c.2791A>G (p.Asn931Asp) c.2458A>G (p.Asn820Asp) | gnomAD v4 |
| 7 | g.117603575A>T | CA368986464 | CFTR | c.2701A>T (p.Asn901Tyr) c.*2415A>T (n.*2415A>T) c.2518A>T (p.Asn840Tyr) c.*1001A>T (n.*1001A>T) c.*2525A>T (n.*2525A>T) c.2275A>T (p.Asn759Tyr) c.292A>T (p.Asn98Tyr) c.351A>T c.1483A>T (p.Asn495Tyr) c.2611A>T (p.Asn871Tyr) c.2791A>T (p.Asn931Tyr) c.2458A>T (p.Asn820Tyr) | |
| 7 | g.117603576A= | CA1737374542 | CFTR | c.2702A= (p.Asn901=) c.*2416A= (n.*2416A=) c.2519A= (p.Asn840=) c.*1002A= (n.*1002A=) c.*2526A= (n.*2526A=) c.2276A= (p.Asn759=) c.293A= (p.Asn98=) c.352A= c.1484A= (p.Asn495=) c.2612A= (p.Asn871=) c.2792A= (p.Asn931=) c.2459A= (p.Asn820=) | |
| 7 | g.117603576A>C | CA368986465 | CFTR | c.2702A>C (p.Asn901Thr) c.*2416A>C (n.*2416A>C) c.2519A>C (p.Asn840Thr) c.*1002A>C (n.*1002A>C) c.*2526A>C (n.*2526A>C) c.2276A>C (p.Asn759Thr) c.293A>C (p.Asn98Thr) c.352A>C c.1484A>C (p.Asn495Thr) c.2612A>C (p.Asn871Thr) c.2792A>C (p.Asn931Thr) c.2459A>C (p.Asn820Thr) | |
| 7 | g.117603576A>G | CA368986466 | CFTR | c.2702A>G (p.Asn901Ser) c.*2416A>G (n.*2416A>G) c.2519A>G (p.Asn840Ser) c.*1002A>G (n.*1002A>G) c.*2526A>G (n.*2526A>G) c.2276A>G (p.Asn759Ser) c.293A>G (p.Asn98Ser) c.352A>G c.1484A>G (p.Asn495Ser) c.2612A>G (p.Asn871Ser) c.2792A>G (p.Asn931Ser) c.2459A>G (p.Asn820Ser) | |
| 7 | g.117603576A>T | CA368986467 | CFTR | c.2702A>T (p.Asn901Ile) c.*2416A>T (n.*2416A>T) c.2519A>T (p.Asn840Ile) c.*1002A>T (n.*1002A>T) c.*2526A>T (n.*2526A>T) c.2276A>T (p.Asn759Ile) c.293A>T (p.Asn98Ile) c.352A>T c.1484A>T (p.Asn495Ile) c.2612A>T (p.Asn871Ile) c.2792A>T (p.Asn931Ile) c.2459A>T (p.Asn820Ile) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117603577C>A | CA368986468 | CFTR | c.2703C>A (p.Asn901Lys) c.*2417C>A (n.*2417C>A) c.2520C>A (p.Asn840Lys) c.*1003C>A (n.*1003C>A) c.*2527C>A (n.*2527C>A) c.2277C>A (p.Asn759Lys) c.294C>A (p.Asn98Lys) c.353C>A c.1485C>A (p.Asn495Lys) c.2613C>A (p.Asn871Lys) c.2793C>A (p.Asn931Lys) c.2460C>A (p.Asn820Lys) | |
| 7 | g.117603577C= | CA1737374555 | CFTR | c.2703C= (p.Asn901=) c.*2417C= (n.*2417C=) c.2520C= (p.Asn840=) c.*1003C= (n.*1003C=) c.*2527C= (n.*2527C=) c.2277C= (p.Asn759=) c.294C= (p.Asn98=) c.353C= c.1485C= (p.Asn495=) c.2613C= (p.Asn871=) c.2793C= (p.Asn931=) c.2460C= (p.Asn820=) | |
| 7 | g.117603577C>G | CA368986469 | CFTR | c.2703C>G (p.Asn901Lys) c.*2417C>G (n.*2417C>G) c.2520C>G (p.Asn840Lys) c.*1003C>G (n.*1003C>G) c.*2527C>G (n.*2527C>G) c.2277C>G (p.Asn759Lys) c.294C>G (p.Asn98Lys) c.353C>G c.1485C>G (p.Asn495Lys) c.2613C>G (p.Asn871Lys) c.2793C>G (p.Asn931Lys) c.2460C>G (p.Asn820Lys) | |
| 7 | g.117603577C>T | CA4451276 | CFTR | c.2703C>T (p.Asn901=) c.*2417C>T (n.*2417C>T) c.2520C>T (p.Asn840=) c.*1003C>T (n.*1003C>T) c.*2527C>T (n.*2527C>T) c.2277C>T (p.Asn759=) c.294C>T (p.Asn98=) c.353C>T c.1485C>T (p.Asn495=) c.2613C>T (p.Asn871=) c.2793C>T (p.Asn931=) c.2460C>T (p.Asn820=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117603578A>C | CA368986470 | CFTR | c.2704A>C (p.Ser902Arg) c.*2418A>C (n.*2418A>C) c.2521A>C (p.Ser841Arg) c.*1004A>C (n.*1004A>C) c.*2528A>C (n.*2528A>C) c.2278A>C (p.Ser760Arg) c.295A>C (p.Ser99Arg) c.354A>C c.1486A>C (p.Ser496Arg) c.2614A>C (p.Ser872Arg) c.2794A>C (p.Ser932Arg) c.2461A>C (p.Ser821Arg) | |
| 7 | g.117603578A>G | CA368986471 | CFTR | c.2704A>G (p.Ser902Gly) c.*2418A>G (n.*2418A>G) c.2521A>G (p.Ser841Gly) c.*1004A>G (n.*1004A>G) c.*2528A>G (n.*2528A>G) c.2278A>G (p.Ser760Gly) c.295A>G (p.Ser99Gly) c.354A>G c.1486A>G (p.Ser496Gly) c.2614A>G (p.Ser872Gly) c.2794A>G (p.Ser932Gly) c.2461A>G (p.Ser821Gly) | |
| 7 | g.117603578A>T | CA368986472 | CFTR | c.2704A>T (p.Ser902Cys) c.*2418A>T (n.*2418A>T) c.2521A>T (p.Ser841Cys) c.*1004A>T (n.*1004A>T) c.*2528A>T (n.*2528A>T) c.2278A>T (p.Ser760Cys) c.295A>T (p.Ser99Cys) c.354A>T c.1486A>T (p.Ser496Cys) c.2614A>T (p.Ser872Cys) c.2794A>T (p.Ser932Cys) c.2461A>T (p.Ser821Cys) | |
| 7 | g.117603579del | CA2580076329 | CFTR | c.2705del (p.Ser902ThrfsTer4) c.*2419del (n.*2419del) c.2522del (p.Ser841ThrfsTer4) c.*1005del (n.*1005del) c.*2529del (n.*2529del) c.2279del (p.Ser760ThrfsTer4) c.296del (p.Ser99ThrfsTer4) c.355del c.1487del (p.Ser496ThrfsTer4) c.2615del (p.Ser872ThrfsTer4) c.2795del (p.Ser932ThrfsTer4) c.2462del (p.Ser821ThrfsTer4) | ClinVar |
| 7 | g.117603579G>A | CA368986475 | CFTR | c.2705G>A (p.Ser902Asn) c.*2419G>A (n.*2419G>A) c.2522G>A (p.Ser841Asn) c.*1005G>A (n.*1005G>A) c.*2529G>A (n.*2529G>A) c.2279G>A (p.Ser760Asn) c.296G>A (p.Ser99Asn) c.355G>A c.1487G>A (p.Ser496Asn) c.2615G>A (p.Ser872Asn) c.2795G>A (p.Ser932Asn) c.2462G>A (p.Ser821Asn) | |
| 7 | g.117603579G>C | CA368986474 | CFTR | c.2705G>C (p.Ser902Thr) c.*2419G>C (n.*2419G>C) c.2522G>C (p.Ser841Thr) c.*1005G>C (n.*1005G>C) c.*2529G>C (n.*2529G>C) c.2279G>C (p.Ser760Thr) c.296G>C (p.Ser99Thr) c.355G>C c.1487G>C (p.Ser496Thr) c.2615G>C (p.Ser872Thr) c.2795G>C (p.Ser932Thr) c.2462G>C (p.Ser821Thr) | ClinVar dbSNP |
| 7 | g.117603579G>T | CA368986473 | CFTR | c.2705G>T (p.Ser902Ile) c.*2419G>T (n.*2419G>T) c.2522G>T (p.Ser841Ile) c.*1005G>T (n.*1005G>T) c.*2529G>T (n.*2529G>T) c.2279G>T (p.Ser760Ile) c.296G>T (p.Ser99Ile) c.355G>T c.1487G>T (p.Ser496Ile) c.2615G>T (p.Ser872Ile) c.2795G>T (p.Ser932Ile) c.2462G>T (p.Ser821Ile) | |
| 7 | g.117603580C>A | CA368986476 | CFTR | c.2706C>A (p.Ser902Arg) c.*2420C>A (n.*2420C>A) c.2523C>A (p.Ser841Arg) c.*1006C>A (n.*1006C>A) c.*2530C>A (n.*2530C>A) c.2280C>A (p.Ser760Arg) c.297C>A (p.Ser99Arg) c.356C>A c.1488C>A (p.Ser496Arg) c.2616C>A (p.Ser872Arg) c.2796C>A (p.Ser932Arg) c.2463C>A (p.Ser821Arg) | |
| 7 | g.117603580C= | CA1737374563 | CFTR | c.2706C= (p.Ser902=) c.*2420C= (n.*2420C=) c.2523C= (p.Ser841=) c.*1006C= (n.*1006C=) c.*2530C= (n.*2530C=) c.2280C= (p.Ser760=) c.297C= (p.Ser99=) c.356C= c.1488C= (p.Ser496=) c.2616C= (p.Ser872=) c.2796C= (p.Ser932=) c.2463C= (p.Ser821=) | |
| 7 | g.117603580C>G | CA326894 | CFTR | c.2706C>G (p.Ser902Arg) c.*2420C>G (n.*2420C>G) c.2523C>G (p.Ser841Arg) c.*1006C>G (n.*1006C>G) c.*2530C>G (n.*2530C>G) c.2280C>G (p.Ser760Arg) c.297C>G (p.Ser99Arg) c.356C>G c.1488C>G (p.Ser496Arg) c.2616C>G (p.Ser872Arg) c.2796C>G (p.Ser932Arg) c.2463C>G (p.Ser821Arg) | ClinVar dbSNP |
| 7 | g.117603580C>T | CA457227923 | CFTR | c.2706C>T (p.Ser902=) c.*2420C>T (n.*2420C>T) c.2523C>T (p.Ser841=) c.*1006C>T (n.*1006C>T) c.*2530C>T (n.*2530C>T) c.2280C>T (p.Ser760=) c.297C>T (p.Ser99=) c.356C>T c.1488C>T (p.Ser496=) c.2616C>T (p.Ser872=) c.2796C>T (p.Ser932=) c.2463C>T (p.Ser821=) | ClinVar gnomAD v4 |
| 7 | g.117603581T>A | CA368986477 | CFTR | c.2707T>A (p.Tyr903Asn) c.*2421T>A (n.*2421T>A) c.2524T>A (p.Tyr842Asn) c.*1007T>A (n.*1007T>A) c.*2531T>A (n.*2531T>A) c.2281T>A (p.Tyr761Asn) c.298T>A (p.Tyr100Asn) c.357T>A c.1489T>A (p.Tyr497Asn) c.2617T>A (p.Tyr873Asn) c.2797T>A (p.Tyr933Asn) c.2464T>A (p.Tyr822Asn) | |
| 7 | g.117603581T>C | CA164959996 | CFTR | c.2707T>C (p.Tyr903His) c.*2421T>C (n.*2421T>C) c.2524T>C (p.Tyr842His) c.*1007T>C (n.*1007T>C) c.*2531T>C (n.*2531T>C) c.2281T>C (p.Tyr761His) c.298T>C (p.Tyr100His) c.357T>C c.1489T>C (p.Tyr497His) c.2617T>C (p.Tyr873His) c.2797T>C (p.Tyr933His) c.2464T>C (p.Tyr822His) | dbSNP |
| 7 | g.117603581T>G | CA368986478 | CFTR | c.2707T>G (p.Tyr903Asp) c.*2421T>G (n.*2421T>G) c.2524T>G (p.Tyr842Asp) c.*1007T>G (n.*1007T>G) c.*2531T>G (n.*2531T>G) c.2281T>G (p.Tyr761Asp) c.298T>G (p.Tyr100Asp) c.357T>G c.1489T>G (p.Tyr497Asp) c.2617T>G (p.Tyr873Asp) c.2797T>G (p.Tyr933Asp) c.2464T>G (p.Tyr822Asp) | |
| 7 | g.117603581T= | CA1737374573 | CFTR | c.2707T= (p.Tyr903=) c.*2421T= (n.*2421T=) c.2524T= (p.Tyr842=) c.*1007T= (n.*1007T=) c.*2531T= (n.*2531T=) c.2281T= (p.Tyr761=) c.298T= (p.Tyr100=) c.357T= c.1489T= (p.Tyr497=) c.2617T= (p.Tyr873=) c.2797T= (p.Tyr933=) c.2464T= (p.Tyr822=) | |
| 7 | g.117603582A= | CA1737374582 | CFTR | c.2708A= (p.Tyr903=) c.*2422A= (n.*2422A=) c.2525A= (p.Tyr842=) c.*1008A= (n.*1008A=) c.*2532A= (n.*2532A=) c.2282A= (p.Tyr761=) c.299A= (p.Tyr100=) c.358A= c.1490A= (p.Tyr497=) c.2618A= (p.Tyr873=) c.2798A= (p.Tyr933=) c.2465A= (p.Tyr822=) | |
| 7 | g.117603582A>C | CA368986479 | CFTR | c.2708A>C (p.Tyr903Ser) c.*2422A>C (n.*2422A>C) c.2525A>C (p.Tyr842Ser) c.*1008A>C (n.*1008A>C) c.*2532A>C (n.*2532A>C) c.2282A>C (p.Tyr761Ser) c.299A>C (p.Tyr100Ser) c.358A>C c.1490A>C (p.Tyr497Ser) c.2618A>C (p.Tyr873Ser) c.2798A>C (p.Tyr933Ser) c.2465A>C (p.Tyr822Ser) | |
| 7 | g.117603582A>G | CA4451277 | CFTR | c.2708A>G (p.Tyr903Cys) c.*2422A>G (n.*2422A>G) c.2525A>G (p.Tyr842Cys) c.*1008A>G (n.*1008A>G) c.*2532A>G (n.*2532A>G) c.2282A>G (p.Tyr761Cys) c.299A>G (p.Tyr100Cys) c.358A>G c.1490A>G (p.Tyr497Cys) c.2618A>G (p.Tyr873Cys) c.2798A>G (p.Tyr933Cys) c.2465A>G (p.Tyr822Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603582A>T | CA368986480 | CFTR | c.2708A>T (p.Tyr903Phe) c.*2422A>T (n.*2422A>T) c.2525A>T (p.Tyr842Phe) c.*1008A>T (n.*1008A>T) c.*2532A>T (n.*2532A>T) c.2282A>T (p.Tyr761Phe) c.299A>T (p.Tyr100Phe) c.358A>T c.1490A>T (p.Tyr497Phe) c.2618A>T (p.Tyr873Phe) c.2798A>T (p.Tyr933Phe) c.2465A>T (p.Tyr822Phe) | gnomAD v4 |
| 7 | g.117603582_117603583delinsAT | CA1737374585 | CFTR | c.2708_2709delinsAT (p.Tyr903=) c.*2422_*2423delinsAT (n.*2422_*2423delinsAT) c.2525_2526delinsAT (p.Tyr842=) c.*1008_*1009delinsAT (n.*1008_*1009delinsAT) c.*2532_*2533delinsAT (n.*2532_*2533delinsAT) c.2282_2283delinsAT (p.Tyr761=) c.299_300delinsAT (p.Tyr100=) c.358_359delinsAT c.1490_1491delinsAT (p.Tyr497=) c.2618_2619delinsAT (p.Tyr873=) c.2798_2799delinsAT (p.Tyr933=) c.2465_2466delinsAT (p.Tyr822=) | |
| 7 | g.117603583del | CA1737374587 | CFTR | c.2709del (p.Tyr903Ter) c.*2423del (n.*2423del) c.2526del (p.Tyr842Ter) c.*1009del (n.*1009del) c.*2533del (n.*2533del) c.2283del (p.Tyr761Ter) c.300del (p.Tyr100Ter) c.359del c.1491del (p.Tyr497Ter) c.2619del (p.Tyr873Ter) c.2799del (p.Tyr933Ter) c.2466del (p.Tyr822Ter) | dbSNP |
| 7 | g.117603583T>A | CA368986481 | CFTR | c.2709T>A (p.Tyr903Ter) c.*2423T>A (n.*2423T>A) c.2526T>A (p.Tyr842Ter) c.*1009T>A (n.*1009T>A) c.*2533T>A (n.*2533T>A) c.2283T>A (p.Tyr761Ter) c.300T>A (p.Tyr100Ter) c.359T>A c.1491T>A (p.Tyr497Ter) c.2619T>A (p.Tyr873Ter) c.2799T>A (p.Tyr933Ter) c.2466T>A (p.Tyr822Ter) | |
| 7 | g.117603583T>C | CA457227924 | CFTR | c.2709T>C (p.Tyr903=) c.*2423T>C (n.*2423T>C) c.2526T>C (p.Tyr842=) c.*1009T>C (n.*1009T>C) c.*2533T>C (n.*2533T>C) c.2283T>C (p.Tyr761=) c.300T>C (p.Tyr100=) c.359T>C c.1491T>C (p.Tyr497=) c.2619T>C (p.Tyr873=) c.2799T>C (p.Tyr933=) c.2466T>C (p.Tyr822=) | ClinVar |
| 7 | g.117603583T>G | CA368986482 | CFTR | c.2709T>G (p.Tyr903Ter) c.*2423T>G (n.*2423T>G) c.2526T>G (p.Tyr842Ter) c.*1009T>G (n.*1009T>G) c.*2533T>G (n.*2533T>G) c.2283T>G (p.Tyr761Ter) c.300T>G (p.Tyr100Ter) c.359T>G c.1491T>G (p.Tyr497Ter) c.2619T>G (p.Tyr873Ter) c.2799T>G (p.Tyr933Ter) c.2466T>G (p.Tyr822Ter) | |
| 7 | g.117603584G>A | CA368986483 | CFTR | c.2710G>A (p.Ala904Thr) c.*2424G>A (n.*2424G>A) c.2527G>A (p.Ala843Thr) c.*1010G>A (n.*1010G>A) c.*2534G>A (n.*2534G>A) c.2284G>A (p.Ala762Thr) c.301G>A (p.Ala101Thr) c.360G>A c.1492G>A (p.Ala498Thr) c.2620G>A (p.Ala874Thr) c.2800G>A (p.Ala934Thr) c.2467G>A (p.Ala823Thr) | |
| 7 | g.117603584G>C | CA368986484 | CFTR | c.2710G>C (p.Ala904Pro) c.*2424G>C (n.*2424G>C) c.2527G>C (p.Ala843Pro) c.*1010G>C (n.*1010G>C) c.*2534G>C (n.*2534G>C) c.2284G>C (p.Ala762Pro) c.301G>C (p.Ala101Pro) c.360G>C c.1492G>C (p.Ala498Pro) c.2620G>C (p.Ala874Pro) c.2800G>C (p.Ala934Pro) c.2467G>C (p.Ala823Pro) | |
| 7 | g.117603584G>T | CA368986485 | CFTR | c.2710G>T (p.Ala904Ser) c.*2424G>T (n.*2424G>T) c.2527G>T (p.Ala843Ser) c.*1010G>T (n.*1010G>T) c.*2534G>T (n.*2534G>T) c.2284G>T (p.Ala762Ser) c.301G>T (p.Ala101Ser) c.360G>T c.1492G>T (p.Ala498Ser) c.2620G>T (p.Ala874Ser) c.2800G>T (p.Ala934Ser) c.2467G>T (p.Ala823Ser) | |
| 7 | g.117603585C>A | CA368986487 | CFTR | c.2711C>A (p.Ala904Glu) c.*2425C>A (n.*2425C>A) c.2528C>A (p.Ala843Glu) c.*1011C>A (n.*1011C>A) c.*2535C>A (n.*2535C>A) c.2285C>A (p.Ala762Glu) c.302C>A (p.Ala101Glu) c.361C>A c.1493C>A (p.Ala498Glu) c.2621C>A (p.Ala874Glu) c.2801C>A (p.Ala934Glu) c.2468C>A (p.Ala823Glu) | |
| 7 | g.117603585C= | CA1737374590 | CFTR | c.2711C= (p.Ala904=) c.*2425C= (n.*2425C=) c.2528C= (p.Ala843=) c.*1011C= (n.*1011C=) c.*2535C= (n.*2535C=) c.2285C= (p.Ala762=) c.302C= (p.Ala101=) c.361C= c.1493C= (p.Ala498=) c.2621C= (p.Ala874=) c.2801C= (p.Ala934=) c.2468C= (p.Ala823=) | |
| 7 | g.117603585C>G | CA368986488 | CFTR | c.2711C>G (p.Ala904Gly) c.*2425C>G (n.*2425C>G) c.2528C>G (p.Ala843Gly) c.*1011C>G (n.*1011C>G) c.*2535C>G (n.*2535C>G) c.2285C>G (p.Ala762Gly) c.302C>G (p.Ala101Gly) c.361C>G c.1493C>G (p.Ala498Gly) c.2621C>G (p.Ala874Gly) c.2801C>G (p.Ala934Gly) c.2468C>G (p.Ala823Gly) | |
| 7 | g.117603585C>T | CA368986486 | CFTR | c.2711C>T (p.Ala904Val) c.*2425C>T (n.*2425C>T) c.2528C>T (p.Ala843Val) c.*1011C>T (n.*1011C>T) c.*2535C>T (n.*2535C>T) c.2285C>T (p.Ala762Val) c.302C>T (p.Ala101Val) c.361C>T c.1493C>T (p.Ala498Val) c.2621C>T (p.Ala874Val) c.2801C>T (p.Ala934Val) c.2468C>T (p.Ala823Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603586A>C | CA457227925 | CFTR | c.2712A>C (p.Ala904=) c.*2426A>C (n.*2426A>C) c.2529A>C (p.Ala843=) c.*1012A>C (n.*1012A>C) c.*2536A>C (n.*2536A>C) c.2286A>C (p.Ala762=) c.303A>C (p.Ala101=) c.362A>C c.1494A>C (p.Ala498=) c.2622A>C (p.Ala874=) c.2802A>C (p.Ala934=) c.2469A>C (p.Ala823=) | |
| 7 | g.117603586A>G | CA457227926 | CFTR | c.2712A>G (p.Ala904=) c.*2426A>G (n.*2426A>G) c.2529A>G (p.Ala843=) c.*1012A>G (n.*1012A>G) c.*2536A>G (n.*2536A>G) c.2286A>G (p.Ala762=) c.303A>G (p.Ala101=) c.362A>G c.1494A>G (p.Ala498=) c.2622A>G (p.Ala874=) c.2802A>G (p.Ala934=) c.2469A>G (p.Ala823=) | |
| 7 | g.117603586A>T | CA457227927 | CFTR | c.2712A>T (p.Ala904=) c.*2426A>T (n.*2426A>T) c.2529A>T (p.Ala843=) c.*1012A>T (n.*1012A>T) c.*2536A>T (n.*2536A>T) c.2286A>T (p.Ala762=) c.303A>T (p.Ala101=) c.362A>T c.1494A>T (p.Ala498=) c.2622A>T (p.Ala874=) c.2802A>T (p.Ala934=) c.2469A>T (p.Ala823=) | |
| 7 | g.117603587G>A | CA368986489 | CFTR | c.2713G>A (p.Val905Met) c.*2427G>A (n.*2427G>A) c.2530G>A (p.Val844Met) c.*1013G>A (n.*1013G>A) c.*2537G>A (n.*2537G>A) c.2287G>A (p.Val763Met) c.304G>A (p.Val102Met) c.363G>A c.1495G>A (p.Val499Met) c.2623G>A (p.Val875Met) c.2803G>A (p.Val935Met) c.2470G>A (p.Val824Met) | |
| 7 | g.117603587G>C | CA164960001 | CFTR | c.2713G>C (p.Val905Leu) c.*2427G>C (n.*2427G>C) c.2530G>C (p.Val844Leu) c.*1013G>C (n.*1013G>C) c.*2537G>C (n.*2537G>C) c.2287G>C (p.Val763Leu) c.304G>C (p.Val102Leu) c.363G>C c.1495G>C (p.Val499Leu) c.2623G>C (p.Val875Leu) c.2803G>C (p.Val935Leu) c.2470G>C (p.Val824Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117603587G= | CA1737374594 | CFTR | c.2713G= (p.Val905=) c.*2427G= (n.*2427G=) c.2530G= (p.Val844=) c.*1013G= (n.*1013G=) c.*2537G= (n.*2537G=) c.2287G= (p.Val763=) c.304G= (p.Val102=) c.363G= c.1495G= (p.Val499=) c.2623G= (p.Val875=) c.2803G= (p.Val935=) c.2470G= (p.Val824=) | |
| 7 | g.117603587G>T | CA368986490 | CFTR | c.2713G>T (p.Val905Leu) c.*2427G>T (n.*2427G>T) c.2530G>T (p.Val844Leu) c.*1013G>T (n.*1013G>T) c.*2537G>T (n.*2537G>T) c.2287G>T (p.Val763Leu) c.304G>T (p.Val102Leu) c.363G>T c.1495G>T (p.Val499Leu) c.2623G>T (p.Val875Leu) c.2803G>T (p.Val935Leu) c.2470G>T (p.Val824Leu) | |
| 7 | g.117603588T>A | CA368986491 | CFTR | c.2714T>A (p.Val905Glu) c.*2428T>A (n.*2428T>A) c.2531T>A (p.Val844Glu) c.*1014T>A (n.*1014T>A) c.*2538T>A (n.*2538T>A) c.2288T>A (p.Val763Glu) c.305T>A (p.Val102Glu) c.364T>A c.1496T>A (p.Val499Glu) c.2624T>A (p.Val875Glu) c.2804T>A (p.Val935Glu) c.2471T>A (p.Val824Glu) | |
| 7 | g.117603588T>C | CA368986492 | CFTR | c.2714T>C (p.Val905Ala) c.*2428T>C (n.*2428T>C) c.2531T>C (p.Val844Ala) c.*1014T>C (n.*1014T>C) c.*2538T>C (n.*2538T>C) c.2288T>C (p.Val763Ala) c.305T>C (p.Val102Ala) c.364T>C c.1496T>C (p.Val499Ala) c.2624T>C (p.Val875Ala) c.2804T>C (p.Val935Ala) c.2471T>C (p.Val824Ala) | |
| 7 | g.117603588T>G | CA368986493 | CFTR | c.2714T>G (p.Val905Gly) c.*2428T>G (n.*2428T>G) c.2531T>G (p.Val844Gly) c.*1014T>G (n.*1014T>G) c.*2538T>G (n.*2538T>G) c.2288T>G (p.Val763Gly) c.305T>G (p.Val102Gly) c.364T>G c.1496T>G (p.Val499Gly) c.2624T>G (p.Val875Gly) c.2804T>G (p.Val935Gly) c.2471T>G (p.Val824Gly) | |
| 7 | g.117603589G>A | CA457227928 | CFTR | c.2715G>A (p.Val905=) c.*2429G>A (n.*2429G>A) c.2532G>A (p.Val844=) c.*1015G>A (n.*1015G>A) c.*2539G>A (n.*2539G>A) c.2289G>A (p.Val763=) c.306G>A (p.Val102=) c.365G>A c.1497G>A (p.Val499=) c.2625G>A (p.Val875=) c.2805G>A (p.Val935=) c.2472G>A (p.Val824=) | ClinVar |
| 7 | g.117603589G>C | CA457227929 | CFTR | c.2715G>C (p.Val905=) c.*2429G>C (n.*2429G>C) c.2532G>C (p.Val844=) c.*1015G>C (n.*1015G>C) c.*2539G>C (n.*2539G>C) c.2289G>C (p.Val763=) c.306G>C (p.Val102=) c.365G>C c.1497G>C (p.Val499=) c.2625G>C (p.Val875=) c.2805G>C (p.Val935=) c.2472G>C (p.Val824=) | |
| 7 | g.117603589G>T | CA457227930 | CFTR | c.2715G>T (p.Val905=) c.*2429G>T (n.*2429G>T) c.2532G>T (p.Val844=) c.*1015G>T (n.*1015G>T) c.*2539G>T (n.*2539G>T) c.2289G>T (p.Val763=) c.306G>T (p.Val102=) c.365G>T c.1497G>T (p.Val499=) c.2625G>T (p.Val875=) c.2805G>T (p.Val935=) c.2472G>T (p.Val824=) | |
| 7 | g.117603590A>C | CA368986494 | CFTR | c.2716A>C (p.Ile906Leu) c.*2430A>C (n.*2430A>C) c.2533A>C (p.Ile845Leu) c.*1016A>C (n.*1016A>C) c.*2540A>C (n.*2540A>C) c.2290A>C (p.Ile764Leu) c.307A>C (p.Ile103Leu) c.366A>C c.1498A>C (p.Ile500Leu) c.2626A>C (p.Ile876Leu) c.2806A>C (p.Ile936Leu) c.2473A>C (p.Ile825Leu) | |
| 7 | g.117603590A>G | CA368986495 | CFTR | c.2716A>G (p.Ile906Val) c.*2430A>G (n.*2430A>G) c.2533A>G (p.Ile845Val) c.*1016A>G (n.*1016A>G) c.*2540A>G (n.*2540A>G) c.2290A>G (p.Ile764Val) c.307A>G (p.Ile103Val) c.366A>G c.1498A>G (p.Ile500Val) c.2626A>G (p.Ile876Val) c.2806A>G (p.Ile936Val) c.2473A>G (p.Ile825Val) | |
| 7 | g.117603590A>T | CA368986496 | CFTR | c.2716A>T (p.Ile906Phe) c.*2430A>T (n.*2430A>T) c.2533A>T (p.Ile845Phe) c.*1016A>T (n.*1016A>T) c.*2540A>T (n.*2540A>T) c.2290A>T (p.Ile764Phe) c.307A>T (p.Ile103Phe) c.366A>T c.1498A>T (p.Ile500Phe) c.2626A>T (p.Ile876Phe) c.2806A>T (p.Ile936Phe) c.2473A>T (p.Ile825Phe) |