Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
7 | g.117593484_117599275del | CA2580076573 | CFTR | c.2490+827_2620-3551del c.*2204+827_*2334-3551del c.2307+827_2437-3551del c.*790+827_*920-3551del c.*2314+827_*2444-3551del c.2064+827_2194-3551del c.81+827_211-3551del c.140+827_270-3551del c.1402-9342_1402-3551del (n.1402-9342_1402-3551del) c.2400+827_2530-3551del c.2580+827_2710-3551del c.2247+827_2377-3551del | ClinVar |
7 | g.117593794_117597288del | CA1139660206 | CFTR | c.2491-1136_2619+2230del c.*2205-1136_*2333+2230del c.2308-1136_2436+2230del c.*791-1136_*919+2230del c.*2315-1136_*2443+2230del c.2065-1136_2193+2230del c.82-1136_210+2230del c.141-1136_269+2230del c.1402-9032_1402-5538del (n.1402-9032_1402-5538del) c.2401-1136_2529+2230del c.2581-1136_2709+2230del c.2248-1136_2376+2230del | ClinVar |
7 | g.117594895T>G | CA2777587080 | CFTR | c.2491-35T>G (n.2491-35T>G) c.*2205-35T>G (n.*2205-35T>G) c.2308-35T>G (n.2308-35T>G) c.*791-35T>G (n.*791-35T>G) c.*2315-35T>G (n.*2315-35T>G) c.2065-35T>G (n.2065-35T>G) c.82-35T>G (n.82-35T>G) c.141-35T>G c.1402-7931T>G (n.1402-7931T>G) c.2401-35T>G (n.2401-35T>G) c.2581-35T>G (n.2581-35T>G) c.2248-35T>G (n.2248-35T>G) | |
7 | g.117594896G>C | CA2684619524 | CFTR | c.2491-34G>C (n.2491-34G>C) c.*2205-34G>C (n.*2205-34G>C) c.2308-34G>C (n.2308-34G>C) c.*791-34G>C (n.*791-34G>C) c.*2315-34G>C (n.*2315-34G>C) c.2065-34G>C (n.2065-34G>C) c.82-34G>C (n.82-34G>C) c.141-34G>C c.1402-7930G>C (n.1402-7930G>C) c.2401-34G>C (n.2401-34G>C) c.2581-34G>C (n.2581-34G>C) c.2248-34G>C (n.2248-34G>C) | gnomAD v4 |
7 | g.117594897T>C | CA2684619525 | CFTR | c.2491-33T>C (n.2491-33T>C) c.*2205-33T>C (n.*2205-33T>C) c.2308-33T>C (n.2308-33T>C) c.*791-33T>C (n.*791-33T>C) c.*2315-33T>C (n.*2315-33T>C) c.2065-33T>C (n.2065-33T>C) c.82-33T>C (n.82-33T>C) c.141-33T>C c.1402-7929T>C (n.1402-7929T>C) c.2401-33T>C (n.2401-33T>C) c.2581-33T>C (n.2581-33T>C) c.2248-33T>C (n.2248-33T>C) | gnomAD v4 |
7 | g.117594897T= | CA1737397608 | CFTR | c.2491-33T= (n.2491-33T=) c.*2205-33T= (n.*2205-33T=) c.2308-33T= (n.2308-33T=) c.*791-33T= (n.*791-33T=) c.*2315-33T= (n.*2315-33T=) c.2065-33T= (n.2065-33T=) c.82-33T= (n.82-33T=) c.141-33T= c.1402-7929T= (n.1402-7929T=) c.2401-33T= (n.2401-33T=) c.2581-33T= (n.2581-33T=) c.2248-33T= (n.2248-33T=) | |
7 | g.117594898dup | CA4451209 | CFTR | c.2491-32dup (n.2491-32dup) c.*2205-32dup (n.*2205-32dup) c.2308-32dup (n.2308-32dup) c.*791-32dup (n.*791-32dup) c.*2315-32dup (n.*2315-32dup) c.2065-32dup (n.2065-32dup) c.82-32dup (n.82-32dup) c.141-32dup c.1402-7928dup (n.1402-7928dup) c.2401-32dup (n.2401-32dup) c.2581-32dup (n.2581-32dup) c.2248-32dup (n.2248-32dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594902T>C | CA577222123 | CFTR | c.2491-28T>C (n.2491-28T>C) c.*2205-28T>C (n.*2205-28T>C) c.2308-28T>C (n.2308-28T>C) c.*791-28T>C (n.*791-28T>C) c.*2315-28T>C (n.*2315-28T>C) c.2065-28T>C (n.2065-28T>C) c.82-28T>C (n.82-28T>C) c.141-28T>C c.1402-7924T>C (n.1402-7924T>C) c.2401-28T>C (n.2401-28T>C) c.2581-28T>C (n.2581-28T>C) c.2248-28T>C (n.2248-28T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117594902T>G | CA1737397612 | CFTR | c.2491-28T>G (n.2491-28T>G) c.*2205-28T>G (n.*2205-28T>G) c.2308-28T>G (n.2308-28T>G) c.*791-28T>G (n.*791-28T>G) c.*2315-28T>G (n.*2315-28T>G) c.2065-28T>G (n.2065-28T>G) c.82-28T>G (n.82-28T>G) c.141-28T>G c.1402-7924T>G (n.1402-7924T>G) c.2401-28T>G (n.2401-28T>G) c.2581-28T>G (n.2581-28T>G) c.2248-28T>G (n.2248-28T>G) | dbSNP gnomAD v4 |
7 | g.117594902T= | CA1737397610 | CFTR | c.2491-28T= (n.2491-28T=) c.*2205-28T= (n.*2205-28T=) c.2308-28T= (n.2308-28T=) c.*791-28T= (n.*791-28T=) c.*2315-28T= (n.*2315-28T=) c.2065-28T= (n.2065-28T=) c.82-28T= (n.82-28T=) c.141-28T= c.1402-7924T= (n.1402-7924T=) c.2401-28T= (n.2401-28T=) c.2581-28T= (n.2581-28T=) c.2248-28T= (n.2248-28T=) | |
7 | g.117594904G>T | CA2684619526 | CFTR | c.2491-26G>T (n.2491-26G>T) c.*2205-26G>T (n.*2205-26G>T) c.2308-26G>T (n.2308-26G>T) c.*791-26G>T (n.*791-26G>T) c.*2315-26G>T (n.*2315-26G>T) c.2065-26G>T (n.2065-26G>T) c.82-26G>T (n.82-26G>T) c.141-26G>T c.1402-7922G>T (n.1402-7922G>T) c.2401-26G>T (n.2401-26G>T) c.2581-26G>T (n.2581-26G>T) c.2248-26G>T (n.2248-26G>T) | gnomAD v4 |
7 | g.117594906A= | CA1737397613 | CFTR | c.2491-24A= (n.2491-24A=) c.*2205-24A= (n.*2205-24A=) c.2308-24A= (n.2308-24A=) c.*791-24A= (n.*791-24A=) c.*2315-24A= (n.*2315-24A=) c.2065-24A= (n.2065-24A=) c.82-24A= (n.82-24A=) c.141-24A= c.1402-7920A= (n.1402-7920A=) c.2401-24A= (n.2401-24A=) c.2581-24A= (n.2581-24A=) c.2248-24A= (n.2248-24A=) | |
7 | g.117594906A>G | CA164949556 | CFTR | c.2491-24A>G (n.2491-24A>G) c.*2205-24A>G (n.*2205-24A>G) c.2308-24A>G (n.2308-24A>G) c.*791-24A>G (n.*791-24A>G) c.*2315-24A>G (n.*2315-24A>G) c.2065-24A>G (n.2065-24A>G) c.82-24A>G (n.82-24A>G) c.141-24A>G c.1402-7920A>G (n.1402-7920A>G) c.2401-24A>G (n.2401-24A>G) c.2581-24A>G (n.2581-24A>G) c.2248-24A>G (n.2248-24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594907A= | CA1737397618 | CFTR | c.2491-23A= (n.2491-23A=) c.*2205-23A= (n.*2205-23A=) c.2308-23A= (n.2308-23A=) c.*791-23A= (n.*791-23A=) c.*2315-23A= (n.*2315-23A=) c.2065-23A= (n.2065-23A=) c.82-23A= (n.82-23A=) c.141-23A= c.1402-7919A= (n.1402-7919A=) c.2401-23A= (n.2401-23A=) c.2581-23A= (n.2581-23A=) c.2248-23A= (n.2248-23A=) | |
7 | g.117594907A>G | CA326830 | CFTR | c.2491-23A>G (n.2491-23A>G) c.*2205-23A>G (n.*2205-23A>G) c.2308-23A>G (n.2308-23A>G) c.*791-23A>G (n.*791-23A>G) c.*2315-23A>G (n.*2315-23A>G) c.2065-23A>G (n.2065-23A>G) c.82-23A>G (n.82-23A>G) c.141-23A>G c.1402-7919A>G (n.1402-7919A>G) c.2401-23A>G (n.2401-23A>G) c.2581-23A>G (n.2581-23A>G) c.2248-23A>G (n.2248-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117594908T>C | CA2684619527 | CFTR | c.2491-22T>C (n.2491-22T>C) c.*2205-22T>C (n.*2205-22T>C) c.2308-22T>C (n.2308-22T>C) c.*791-22T>C (n.*791-22T>C) c.*2315-22T>C (n.*2315-22T>C) c.2065-22T>C (n.2065-22T>C) c.82-22T>C (n.82-22T>C) c.141-22T>C c.1402-7918T>C (n.1402-7918T>C) c.2401-22T>C (n.2401-22T>C) c.2581-22T>C (n.2581-22T>C) c.2248-22T>C (n.2248-22T>C) | gnomAD v4 |
7 | g.117594910G>A | CA2684619528 | CFTR | c.2491-20G>A (n.2491-20G>A) c.*2205-20G>A (n.*2205-20G>A) c.2308-20G>A (n.2308-20G>A) c.*791-20G>A (n.*791-20G>A) c.*2315-20G>A (n.*2315-20G>A) c.2065-20G>A (n.2065-20G>A) c.82-20G>A (n.82-20G>A) c.141-20G>A c.1402-7916G>A (n.1402-7916G>A) c.2401-20G>A (n.2401-20G>A) c.2581-20G>A (n.2581-20G>A) c.2248-20G>A (n.2248-20G>A) | gnomAD v4 |
7 | g.117594911C>A | CA2697557579 | CFTR | c.2491-19C>A (n.2491-19C>A) c.*2205-19C>A (n.*2205-19C>A) c.2308-19C>A (n.2308-19C>A) c.*791-19C>A (n.*791-19C>A) c.*2315-19C>A (n.*2315-19C>A) c.2065-19C>A (n.2065-19C>A) c.82-19C>A (n.82-19C>A) c.141-19C>A c.1402-7915C>A (n.1402-7915C>A) c.2401-19C>A (n.2401-19C>A) c.2581-19C>A (n.2581-19C>A) c.2248-19C>A (n.2248-19C>A) | ClinVar |
7 | g.117594912C= | CA1737397621 | CFTR | c.2491-18C= (n.2491-18C=) c.*2205-18C= (n.*2205-18C=) c.2308-18C= (n.2308-18C=) c.*791-18C= (n.*791-18C=) c.*2315-18C= (n.*2315-18C=) c.2065-18C= (n.2065-18C=) c.82-18C= (n.82-18C=) c.141-18C= c.1402-7914C= (n.1402-7914C=) c.2401-18C= (n.2401-18C=) c.2581-18C= (n.2581-18C=) c.2248-18C= (n.2248-18C=) | |
7 | g.117594912C>T | CA4451210 | CFTR | c.2491-18C>T (n.2491-18C>T) c.*2205-18C>T (n.*2205-18C>T) c.2308-18C>T (n.2308-18C>T) c.*791-18C>T (n.*791-18C>T) c.*2315-18C>T (n.*2315-18C>T) c.2065-18C>T (n.2065-18C>T) c.82-18C>T (n.82-18C>T) c.141-18C>T c.1402-7914C>T (n.1402-7914C>T) c.2401-18C>T (n.2401-18C>T) c.2581-18C>T (n.2581-18C>T) c.2248-18C>T (n.2248-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594913A>G | CA2684619529 | CFTR | c.2491-17A>G (n.2491-17A>G) c.*2205-17A>G (n.*2205-17A>G) c.2308-17A>G (n.2308-17A>G) c.*791-17A>G (n.*791-17A>G) c.*2315-17A>G (n.*2315-17A>G) c.2065-17A>G (n.2065-17A>G) c.82-17A>G (n.82-17A>G) c.141-17A>G c.1402-7913A>G (n.1402-7913A>G) c.2401-17A>G (n.2401-17A>G) c.2581-17A>G (n.2581-17A>G) c.2248-17A>G (n.2248-17A>G) | gnomAD v4 |
7 | g.117594916A>C | CA2684619530 | CFTR | c.2491-14A>C (n.2491-14A>C) c.*2205-14A>C (n.*2205-14A>C) c.2308-14A>C (n.2308-14A>C) c.*791-14A>C (n.*791-14A>C) c.*2315-14A>C (n.*2315-14A>C) c.2065-14A>C (n.2065-14A>C) c.82-14A>C (n.82-14A>C) c.141-14A>C c.1402-7910A>C (n.1402-7910A>C) c.2401-14A>C (n.2401-14A>C) c.2581-14A>C (n.2581-14A>C) c.2248-14A>C (n.2248-14A>C) | gnomAD v4 |
7 | g.117594919C>A | CA164949569 | CFTR | c.2491-11C>A (n.2491-11C>A) c.*2205-11C>A (n.*2205-11C>A) c.2308-11C>A (n.2308-11C>A) c.*791-11C>A (n.*791-11C>A) c.*2315-11C>A (n.*2315-11C>A) c.2065-11C>A (n.2065-11C>A) c.82-11C>A (n.82-11C>A) c.141-11C>A c.1402-7907C>A (n.1402-7907C>A) c.2401-11C>A (n.2401-11C>A) c.2581-11C>A (n.2581-11C>A) c.2248-11C>A (n.2248-11C>A) | ClinVar dbSNP gnomAD v4 |
7 | g.117594919C= | CA1737397624 | CFTR | c.2491-11C= (n.2491-11C=) c.*2205-11C= (n.*2205-11C=) c.2308-11C= (n.2308-11C=) c.*791-11C= (n.*791-11C=) c.*2315-11C= (n.*2315-11C=) c.2065-11C= (n.2065-11C=) c.82-11C= (n.82-11C=) c.141-11C= c.1402-7907C= (n.1402-7907C=) c.2401-11C= (n.2401-11C=) c.2581-11C= (n.2581-11C=) c.2248-11C= (n.2248-11C=) | |
7 | g.117594919C>T | CA326829 | CFTR | c.2491-11C>T (n.2491-11C>T) c.*2205-11C>T (n.*2205-11C>T) c.2308-11C>T (n.2308-11C>T) c.*791-11C>T (n.*791-11C>T) c.*2315-11C>T (n.*2315-11C>T) c.2065-11C>T (n.2065-11C>T) c.82-11C>T (n.82-11C>T) c.141-11C>T c.1402-7907C>T (n.1402-7907C>T) c.2401-11C>T (n.2401-11C>T) c.2581-11C>T (n.2581-11C>T) c.2248-11C>T (n.2248-11C>T) | dbSNP |
7 | g.117594920T>C | CA2580076578 | CFTR | c.2491-10T>C (n.2491-10T>C) c.*2205-10T>C (n.*2205-10T>C) c.2308-10T>C (n.2308-10T>C) c.*791-10T>C (n.*791-10T>C) c.*2315-10T>C (n.*2315-10T>C) c.2065-10T>C (n.2065-10T>C) c.82-10T>C (n.82-10T>C) c.141-10T>C c.1402-7906T>C (n.1402-7906T>C) c.2401-10T>C (n.2401-10T>C) c.2581-10T>C (n.2581-10T>C) c.2248-10T>C (n.2248-10T>C) | ClinVar gnomAD v4 |
7 | g.117594921T>C | CA2684619531 | CFTR | c.2491-9T>C (n.2491-9T>C) c.*2205-9T>C (n.*2205-9T>C) c.2308-9T>C (n.2308-9T>C) c.*791-9T>C (n.*791-9T>C) c.*2315-9T>C (n.*2315-9T>C) c.2065-9T>C (n.2065-9T>C) c.82-9T>C (n.82-9T>C) c.141-9T>C c.1402-7905T>C (n.1402-7905T>C) c.2401-9T>C (n.2401-9T>C) c.2581-9T>C (n.2581-9T>C) c.2248-9T>C (n.2248-9T>C) | gnomAD v4 |
7 | g.117594922T>C | CA4451211 | CFTR | c.2491-8T>C (n.2491-8T>C) c.*2205-8T>C (n.*2205-8T>C) c.2308-8T>C (n.2308-8T>C) c.*791-8T>C (n.*791-8T>C) c.*2315-8T>C (n.*2315-8T>C) c.2065-8T>C (n.2065-8T>C) c.82-8T>C (n.82-8T>C) c.141-8T>C c.1402-7904T>C (n.1402-7904T>C) c.2401-8T>C (n.2401-8T>C) c.2581-8T>C (n.2581-8T>C) c.2248-8T>C (n.2248-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594922T= | CA1737397627 | CFTR | c.2491-8T= (n.2491-8T=) c.*2205-8T= (n.*2205-8T=) c.2308-8T= (n.2308-8T=) c.*791-8T= (n.*791-8T=) c.*2315-8T= (n.*2315-8T=) c.2065-8T= (n.2065-8T=) c.82-8T= (n.82-8T=) c.141-8T= c.1402-7904T= (n.1402-7904T=) c.2401-8T= (n.2401-8T=) c.2581-8T= (n.2581-8T=) c.2248-8T= (n.2248-8T=) | |
7 | g.117594923T>A | CA2580076579 | CFTR | c.2491-7T>A (n.2491-7T>A) c.*2205-7T>A (n.*2205-7T>A) c.2308-7T>A (n.2308-7T>A) c.*791-7T>A (n.*791-7T>A) c.*2315-7T>A (n.*2315-7T>A) c.2065-7T>A (n.2065-7T>A) c.82-7T>A (n.82-7T>A) c.141-7T>A c.1402-7903T>A (n.1402-7903T>A) c.2401-7T>A (n.2401-7T>A) c.2581-7T>A (n.2581-7T>A) c.2248-7T>A (n.2248-7T>A) | ClinVar |
7 | g.117594925T>C | CA2580076580 | CFTR | c.2491-5T>C (n.2491-5T>C) c.*2205-5T>C (n.*2205-5T>C) c.2308-5T>C (n.2308-5T>C) c.*791-5T>C (n.*791-5T>C) c.*2315-5T>C (n.*2315-5T>C) c.2065-5T>C (n.2065-5T>C) c.82-5T>C (n.82-5T>C) c.141-5T>C c.1402-7901T>C (n.1402-7901T>C) c.2401-5T>C (n.2401-5T>C) c.2581-5T>C (n.2581-5T>C) c.2248-5T>C (n.2248-5T>C) | ClinVar gnomAD v4 |
7 | g.117594926T>A | CA4451212 | CFTR | c.2491-4T>A (n.2491-4T>A) c.*2205-4T>A (n.*2205-4T>A) c.2308-4T>A (n.2308-4T>A) c.*791-4T>A (n.*791-4T>A) c.*2315-4T>A (n.*2315-4T>A) c.2065-4T>A (n.2065-4T>A) c.82-4T>A (n.82-4T>A) c.141-4T>A c.1402-7900T>A (n.1402-7900T>A) c.2401-4T>A (n.2401-4T>A) c.2581-4T>A (n.2581-4T>A) c.2248-4T>A (n.2248-4T>A) | dbSNP ExAC gnomAD v4 |
7 | g.117594926T= | CA1737397629 | CFTR | c.2491-4T= (n.2491-4T=) c.*2205-4T= (n.*2205-4T=) c.2308-4T= (n.2308-4T=) c.*791-4T= (n.*791-4T=) c.*2315-4T= (n.*2315-4T=) c.2065-4T= (n.2065-4T=) c.82-4T= (n.82-4T=) c.141-4T= c.1402-7900T= (n.1402-7900T=) c.2401-4T= (n.2401-4T=) c.2581-4T= (n.2581-4T=) c.2248-4T= (n.2248-4T=) | |
7 | g.117594927_117595056delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | CA1737397630 | CFTR | c.2491-3_2617delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2205-3_*2331delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2308-3_2434delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*791-3_*917delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.*2315-3_*2441delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2065-3_2191delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.82-3_208delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.141-3_267delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG (n.1402-7899_1402-7770delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG) c.2401-3_2527delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2581-3_2707delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG c.2248-3_2374delinsCAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG | |
7 | g.117594928A= | CA1737397637 | CFTR | c.2491-2A= (n.2491-2A=) c.*2205-2A= (n.*2205-2A=) c.2308-2A= (n.2308-2A=) c.*791-2A= (n.*791-2A=) c.*2315-2A= (n.*2315-2A=) c.2065-2A= (n.2065-2A=) c.82-2A= (n.82-2A=) c.141-2A= c.1402-7898A= (n.1402-7898A=) c.2401-2A= (n.2401-2A=) c.2581-2A= (n.2581-2A=) c.2248-2A= (n.2248-2A=) | |
7 | g.117594928A>C | CA368983756 | CFTR | c.2491-2A>C (n.2491-2A>C) c.*2205-2A>C (n.*2205-2A>C) c.2308-2A>C (n.2308-2A>C) c.*791-2A>C (n.*791-2A>C) c.*2315-2A>C (n.*2315-2A>C) c.2065-2A>C (n.2065-2A>C) c.82-2A>C (n.82-2A>C) c.141-2A>C c.1402-7898A>C (n.1402-7898A>C) c.2401-2A>C (n.2401-2A>C) c.2581-2A>C (n.2581-2A>C) c.2248-2A>C (n.2248-2A>C) | ClinVar dbSNP |
7 | g.117594928A>G | CA326831 | CFTR | c.2491-2A>G (n.2491-2A>G) c.*2205-2A>G (n.*2205-2A>G) c.2308-2A>G (n.2308-2A>G) c.*791-2A>G (n.*791-2A>G) c.*2315-2A>G (n.*2315-2A>G) c.2065-2A>G (n.2065-2A>G) c.82-2A>G (n.82-2A>G) c.141-2A>G c.1402-7898A>G (n.1402-7898A>G) c.2401-2A>G (n.2401-2A>G) c.2581-2A>G (n.2581-2A>G) c.2248-2A>G (n.2248-2A>G) | dbSNP |
7 | g.117594928A>T | CA368983759 | CFTR | c.2491-2A>T (n.2491-2A>T) c.*2205-2A>T (n.*2205-2A>T) c.2308-2A>T (n.2308-2A>T) c.*791-2A>T (n.*791-2A>T) c.*2315-2A>T (n.*2315-2A>T) c.2065-2A>T (n.2065-2A>T) c.82-2A>T (n.82-2A>T) c.141-2A>T c.1402-7898A>T (n.1402-7898A>T) c.2401-2A>T (n.2401-2A>T) c.2581-2A>T (n.2581-2A>T) c.2248-2A>T (n.2248-2A>T) | |
7 | g.117594931_117595059del | CA913190196 | CFTR | c.2492_2619+1del c.*2206_*2333+1del c.2309_2436+1del c.*792_*919+1del c.*2316_*2443+1del c.2066_2193+1del c.83_210+1del c.142_269+1del c.1402-7895_1402-7767del (n.1402-7895_1402-7767del) c.2402_2529+1del c.2582_2709+1del c.2249_2376+1del | ClinVar dbSNP |
7 | g.117594929G>A | CA368983762 | CFTR | c.2491-1G>A (n.2491-1G>A) c.*2205-1G>A (n.*2205-1G>A) c.2308-1G>A (n.2308-1G>A) c.*791-1G>A (n.*791-1G>A) c.*2315-1G>A (n.*2315-1G>A) c.2065-1G>A (n.2065-1G>A) c.82-1G>A (n.82-1G>A) c.141-1G>A c.1402-7897G>A (n.1402-7897G>A) c.2401-1G>A (n.2401-1G>A) c.2581-1G>A (n.2581-1G>A) c.2248-1G>A (n.2248-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117594929G>C | CA368983763 | CFTR | c.2491-1G>C (n.2491-1G>C) c.*2205-1G>C (n.*2205-1G>C) c.2308-1G>C (n.2308-1G>C) c.*791-1G>C (n.*791-1G>C) c.*2315-1G>C (n.*2315-1G>C) c.2065-1G>C (n.2065-1G>C) c.82-1G>C (n.82-1G>C) c.141-1G>C c.1402-7897G>C (n.1402-7897G>C) c.2401-1G>C (n.2401-1G>C) c.2581-1G>C (n.2581-1G>C) c.2248-1G>C (n.2248-1G>C) | |
7 | g.117594929G= | CA1737397644 | CFTR | c.2491-1G= (n.2491-1G=) c.*2205-1G= (n.*2205-1G=) c.2308-1G= (n.2308-1G=) c.*791-1G= (n.*791-1G=) c.*2315-1G= (n.*2315-1G=) c.2065-1G= (n.2065-1G=) c.82-1G= (n.82-1G=) c.141-1G= c.1402-7897G= (n.1402-7897G=) c.2401-1G= (n.2401-1G=) c.2581-1G= (n.2581-1G=) c.2248-1G= (n.2248-1G=) | |
7 | g.117594929G>T | CA368983764 | CFTR | c.2491-1G>T (n.2491-1G>T) c.*2205-1G>T (n.*2205-1G>T) c.2308-1G>T (n.2308-1G>T) c.*791-1G>T (n.*791-1G>T) c.*2315-1G>T (n.*2315-1G>T) c.2065-1G>T (n.2065-1G>T) c.82-1G>T (n.82-1G>T) c.141-1G>T c.1402-7897G>T (n.1402-7897G>T) c.2401-1G>T (n.2401-1G>T) c.2581-1G>T (n.2581-1G>T) c.2248-1G>T (n.2248-1G>T) | |
7 | g.117594930G>A | CA368983767 | CFTR | c.2491G>A (p.Glu831Lys) c.*2205G>A (n.*2205G>A) c.2308G>A (p.Glu770Lys) c.*791G>A (n.*791G>A) c.*2315G>A (n.*2315G>A) c.2065G>A (p.Glu689Lys) c.82G>A (p.Glu28Lys) c.141G>A c.1402-7896G>A (n.1402-7896G>A) c.2401G>A (p.Glu801Lys) c.2581G>A (p.Glu861Lys) c.2248G>A (p.Glu750Lys) | COSMIC |
7 | g.117594930G>C | CA368983768 | CFTR | c.2491G>C (p.Glu831Gln) c.*2205G>C (n.*2205G>C) c.2308G>C (p.Glu770Gln) c.*791G>C (n.*791G>C) c.*2315G>C (n.*2315G>C) c.2065G>C (p.Glu689Gln) c.82G>C (p.Glu28Gln) c.141G>C c.1402-7896G>C (n.1402-7896G>C) c.2401G>C (p.Glu801Gln) c.2581G>C (p.Glu861Gln) c.2248G>C (p.Glu750Gln) | COSMIC |
7 | g.117594930G= | CA1737397649 | CFTR | c.2491G= (p.Glu831=) c.*2205G= (n.*2205G=) c.2308G= (p.Glu770=) c.*791G= (n.*791G=) c.*2315G= (n.*2315G=) c.2065G= (p.Glu689=) c.82G= (p.Glu28=) c.141G= c.1402-7896G= (n.1402-7896G=) c.2401G= (p.Glu801=) c.2581G= (p.Glu861=) c.2248G= (p.Glu750=) | |
7 | g.117594930G>T | CA345311 | CFTR | c.2491G>T (p.Glu831Ter) c.*2205G>T (n.*2205G>T) c.2308G>T (p.Glu770Ter) c.*791G>T (n.*791G>T) c.*2315G>T (n.*2315G>T) c.2065G>T (p.Glu689Ter) c.82G>T (p.Glu28Ter) c.141G>T c.1402-7896G>T (n.1402-7896G>T) c.2401G>T (p.Glu801Ter) c.2581G>T (p.Glu861Ter) c.2248G>T (p.Glu750Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594931A= | CA1737397656 | CFTR | c.2492A= (p.Glu831=) c.*2206A= (n.*2206A=) c.2309A= (p.Glu770=) c.*792A= (n.*792A=) c.*2316A= (n.*2316A=) c.2066A= (p.Glu689=) c.83A= (p.Glu28=) c.142A= c.1402-7895A= (n.1402-7895A=) c.2402A= (p.Glu801=) c.2582A= (p.Glu861=) c.2249A= (p.Glu750=) | |
7 | g.117594931A>C | CA368983773 | CFTR | c.2492A>C (p.Glu831Ala) c.*2206A>C (n.*2206A>C) c.2309A>C (p.Glu770Ala) c.*792A>C (n.*792A>C) c.*2316A>C (n.*2316A>C) c.2066A>C (p.Glu689Ala) c.83A>C (p.Glu28Ala) c.142A>C c.1402-7895A>C (n.1402-7895A>C) c.2402A>C (p.Glu801Ala) c.2582A>C (p.Glu861Ala) c.2249A>C (p.Glu750Ala) | |
7 | g.117594931A>G | CA164949594 | CFTR | c.2492A>G (p.Glu831Gly) c.*2206A>G (n.*2206A>G) c.2309A>G (p.Glu770Gly) c.*792A>G (n.*792A>G) c.*2316A>G (n.*2316A>G) c.2066A>G (p.Glu689Gly) c.83A>G (p.Glu28Gly) c.142A>G c.1402-7895A>G (n.1402-7895A>G) c.2402A>G (p.Glu801Gly) c.2582A>G (p.Glu861Gly) c.2249A>G (p.Glu750Gly) | dbSNP gnomAD v4 |
7 | g.117594931A>T | CA368983772 | CFTR | c.2492A>T (p.Glu831Val) c.*2206A>T (n.*2206A>T) c.2309A>T (p.Glu770Val) c.*792A>T (n.*792A>T) c.*2316A>T (n.*2316A>T) c.2066A>T (p.Glu689Val) c.83A>T (p.Glu28Val) c.142A>T c.1402-7895A>T (n.1402-7895A>T) c.2402A>T (p.Glu801Val) c.2582A>T (p.Glu861Val) c.2249A>T (p.Glu750Val) | |
7 | g.117594932G>A | CA457227558 | CFTR | c.2493G>A (p.Glu831=) c.*2207G>A (n.*2207G>A) c.2310G>A (p.Glu770=) c.*793G>A (n.*793G>A) c.*2317G>A (n.*2317G>A) c.2067G>A (p.Glu689=) c.84G>A (p.Glu28=) c.143G>A c.1402-7894G>A (n.1402-7894G>A) c.2403G>A (p.Glu801=) c.2583G>A (p.Glu861=) c.2250G>A (p.Glu750=) | ClinVar dbSNP gnomAD v4 |
7 | g.117594932G>C | CA368983775 | CFTR | c.2493G>C (p.Glu831Asp) c.*2207G>C (n.*2207G>C) c.2310G>C (p.Glu770Asp) c.*793G>C (n.*793G>C) c.*2317G>C (n.*2317G>C) c.2067G>C (p.Glu689Asp) c.84G>C (p.Glu28Asp) c.143G>C c.1402-7894G>C (n.1402-7894G>C) c.2403G>C (p.Glu801Asp) c.2583G>C (p.Glu861Asp) c.2250G>C (p.Glu750Asp) | |
7 | g.117594932G= | CA1737397659 | CFTR | c.2493G= (p.Glu831=) c.*2207G= (n.*2207G=) c.2310G= (p.Glu770=) c.*793G= (n.*793G=) c.*2317G= (n.*2317G=) c.2067G= (p.Glu689=) c.84G= (p.Glu28=) c.143G= c.1402-7894G= (n.1402-7894G=) c.2403G= (p.Glu801=) c.2583G= (p.Glu861=) c.2250G= (p.Glu750=) | |
7 | g.117594932G>T | CA368983777 | CFTR | c.2493G>T (p.Glu831Asp) c.*2207G>T (n.*2207G>T) c.2310G>T (p.Glu770Asp) c.*793G>T (n.*793G>T) c.*2317G>T (n.*2317G>T) c.2067G>T (p.Glu689Asp) c.84G>T (p.Glu28Asp) c.143G>T c.1402-7894G>T (n.1402-7894G>T) c.2403G>T (p.Glu801Asp) c.2583G>T (p.Glu861Asp) c.2250G>T (p.Glu750Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117594933T>A | CA164949600 | CFTR | c.2494T>A (p.Cys832Ser) c.*2208T>A (n.*2208T>A) c.2311T>A (p.Cys771Ser) c.*794T>A (n.*794T>A) c.*2318T>A (n.*2318T>A) c.2068T>A (p.Cys690Ser) c.85T>A (p.Cys29Ser) c.144T>A c.1402-7893T>A (n.1402-7893T>A) c.2404T>A (p.Cys802Ser) c.2584T>A (p.Cys862Ser) c.2251T>A (p.Cys751Ser) | dbSNP |
7 | g.117594933T>C | CA368983780 | CFTR | c.2494T>C (p.Cys832Arg) c.*2208T>C (n.*2208T>C) c.2311T>C (p.Cys771Arg) c.*794T>C (n.*794T>C) c.*2318T>C (n.*2318T>C) c.2068T>C (p.Cys690Arg) c.85T>C (p.Cys29Arg) c.144T>C c.1402-7893T>C (n.1402-7893T>C) c.2404T>C (p.Cys802Arg) c.2584T>C (p.Cys862Arg) c.2251T>C (p.Cys751Arg) | |
7 | g.117594933T>G | CA368983782 | CFTR | c.2494T>G (p.Cys832Gly) c.*2208T>G (n.*2208T>G) c.2311T>G (p.Cys771Gly) c.*794T>G (n.*794T>G) c.*2318T>G (n.*2318T>G) c.2068T>G (p.Cys690Gly) c.85T>G (p.Cys29Gly) c.144T>G c.1402-7893T>G (n.1402-7893T>G) c.2404T>G (p.Cys802Gly) c.2584T>G (p.Cys862Gly) c.2251T>G (p.Cys751Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117594933T= | CA1737397663 | CFTR | c.2494T= (p.Cys832=) c.*2208T= (n.*2208T=) c.2311T= (p.Cys771=) c.*794T= (n.*794T=) c.*2318T= (n.*2318T=) c.2068T= (p.Cys690=) c.85T= (p.Cys29=) c.144T= c.1402-7893T= (n.1402-7893T=) c.2404T= (p.Cys802=) c.2584T= (p.Cys862=) c.2251T= (p.Cys751=) | |
7 | g.117594934G>A | CA4451213 | CFTR | c.2495G>A (p.Cys832Tyr) c.*2209G>A (n.*2209G>A) c.2312G>A (p.Cys771Tyr) c.*795G>A (n.*795G>A) c.*2319G>A (n.*2319G>A) c.2069G>A (p.Cys690Tyr) c.86G>A (p.Cys29Tyr) c.145G>A c.1402-7892G>A (n.1402-7892G>A) c.2405G>A (p.Cys802Tyr) c.2585G>A (p.Cys862Tyr) c.2252G>A (p.Cys751Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594934G>C | CA368983784 | CFTR | c.2495G>C (p.Cys832Ser) c.*2209G>C (n.*2209G>C) c.2312G>C (p.Cys771Ser) c.*795G>C (n.*795G>C) c.*2319G>C (n.*2319G>C) c.2069G>C (p.Cys690Ser) c.86G>C (p.Cys29Ser) c.145G>C c.1402-7892G>C (n.1402-7892G>C) c.2405G>C (p.Cys802Ser) c.2585G>C (p.Cys862Ser) c.2252G>C (p.Cys751Ser) | gnomAD v4 |
7 | g.117594934G= | CA1737397666 | CFTR | c.2495G= (p.Cys832=) c.*2209G= (n.*2209G=) c.2312G= (p.Cys771=) c.*795G= (n.*795G=) c.*2319G= (n.*2319G=) c.2069G= (p.Cys690=) c.86G= (p.Cys29=) c.145G= c.1402-7892G= (n.1402-7892G=) c.2405G= (p.Cys802=) c.2585G= (p.Cys862=) c.2252G= (p.Cys751=) | |
7 | g.117594934G>T | CA368983786 | CFTR | c.2495G>T (p.Cys832Phe) c.*2209G>T (n.*2209G>T) c.2312G>T (p.Cys771Phe) c.*795G>T (n.*795G>T) c.*2319G>T (n.*2319G>T) c.2069G>T (p.Cys690Phe) c.86G>T (p.Cys29Phe) c.145G>T c.1402-7892G>T (n.1402-7892G>T) c.2405G>T (p.Cys802Phe) c.2585G>T (p.Cys862Phe) c.2252G>T (p.Cys751Phe) | |
7 | g.117594935C>A | CA326832 | CFTR | c.2496C>A (p.Cys832Ter) c.*2210C>A (n.*2210C>A) c.2313C>A (p.Cys771Ter) c.*796C>A (n.*796C>A) c.*2320C>A (n.*2320C>A) c.2070C>A (p.Cys690Ter) c.87C>A (p.Cys29Ter) c.146C>A c.1402-7891C>A (n.1402-7891C>A) c.2406C>A (p.Cys802Ter) c.2586C>A (p.Cys862Ter) c.2253C>A (p.Cys751Ter) | ClinVar dbSNP |
7 | g.117594935C= | CA1737397670 | CFTR | c.2496C= (p.Cys832=) c.*2210C= (n.*2210C=) c.2313C= (p.Cys771=) c.*796C= (n.*796C=) c.*2320C= (n.*2320C=) c.2070C= (p.Cys690=) c.87C= (p.Cys29=) c.146C= c.1402-7891C= (n.1402-7891C=) c.2406C= (p.Cys802=) c.2586C= (p.Cys862=) c.2253C= (p.Cys751=) | |
7 | g.117594935C>G | CA368983790 | CFTR | c.2496C>G (p.Cys832Trp) c.*2210C>G (n.*2210C>G) c.2313C>G (p.Cys771Trp) c.*796C>G (n.*796C>G) c.*2320C>G (n.*2320C>G) c.2070C>G (p.Cys690Trp) c.87C>G (p.Cys29Trp) c.146C>G c.1402-7891C>G (n.1402-7891C>G) c.2406C>G (p.Cys802Trp) c.2586C>G (p.Cys862Trp) c.2253C>G (p.Cys751Trp) | |
7 | g.117594935C>T | CA457227559 | CFTR | c.2496C>T (p.Cys832=) c.*2210C>T (n.*2210C>T) c.2313C>T (p.Cys771=) c.*796C>T (n.*796C>T) c.*2320C>T (n.*2320C>T) c.2070C>T (p.Cys690=) c.87C>T (p.Cys29=) c.146C>T c.1402-7891C>T (n.1402-7891C>T) c.2406C>T (p.Cys802=) c.2586C>T (p.Cys862=) c.2253C>T (p.Cys751=) | ClinVar dbSNP gnomAD v4 |
7 | g.117594935_117594936delinsCT | CA1737397673 | CFTR | c.2496_2497delinsCT (p.Cys832=) c.*2210_*2211delinsCT (n.*2210_*2211delinsCT) c.2313_2314delinsCT (p.Cys771=) c.*796_*797delinsCT (n.*796_*797delinsCT) c.*2320_*2321delinsCT (n.*2320_*2321delinsCT) c.2070_2071delinsCT (p.Cys690=) c.87_88delinsCT (p.Cys29=) c.146_147delinsCT c.1402-7891_1402-7890delinsCT (n.1402-7891_1402-7890delinsCT) c.2406_2407delinsCT (p.Cys802=) c.2586_2587delinsCT (p.Cys862=) c.2253_2254delinsCT (p.Cys751=) | |
7 | g.117594936T>A | CA368983792 | CFTR | c.2497T>A (p.Phe833Ile) c.*2211T>A (n.*2211T>A) c.2314T>A (p.Phe772Ile) c.*797T>A (n.*797T>A) c.*2321T>A (n.*2321T>A) c.2071T>A (p.Phe691Ile) c.88T>A (p.Phe30Ile) c.147T>A c.1402-7890T>A (n.1402-7890T>A) c.2407T>A (p.Phe803Ile) c.2587T>A (p.Phe863Ile) c.2254T>A (p.Phe752Ile) | |
7 | g.117594936T>C | CA368983794 | CFTR | c.2497T>C (p.Phe833Leu) c.*2211T>C (n.*2211T>C) c.2314T>C (p.Phe772Leu) c.*797T>C (n.*797T>C) c.*2321T>C (n.*2321T>C) c.2071T>C (p.Phe691Leu) c.88T>C (p.Phe30Leu) c.147T>C c.1402-7890T>C (n.1402-7890T>C) c.2407T>C (p.Phe803Leu) c.2587T>C (p.Phe863Leu) c.2254T>C (p.Phe752Leu) | COSMIC |
7 | g.117594936T>G | CA368983795 | CFTR | c.2497T>G (p.Phe833Val) c.*2211T>G (n.*2211T>G) c.2314T>G (p.Phe772Val) c.*797T>G (n.*797T>G) c.*2321T>G (n.*2321T>G) c.2071T>G (p.Phe691Val) c.88T>G (p.Phe30Val) c.147T>G c.1402-7890T>G (n.1402-7890T>G) c.2407T>G (p.Phe803Val) c.2587T>G (p.Phe863Val) c.2254T>G (p.Phe752Val) | |
7 | g.117594941dup | CA326834 | CFTR | c.2502dup (p.Asp835Ter) c.*2216dup (n.*2216dup) c.2319dup (p.Asp774Ter) c.*802dup (n.*802dup) c.*2326dup (n.*2326dup) c.2076dup (p.Asp693Ter) c.93dup (p.Asp32Ter) c.152dup c.1402-7885dup (n.1402-7885dup) c.2412dup (p.Asp805Ter) c.2592dup (p.Asp865Ter) c.2259dup (p.Asp754Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.117594941del | CA326835 | CFTR | c.2502del (p.Phe834LeufsTer10) c.*2216del (n.*2216del) c.2319del (p.Phe773LeufsTer10) c.*802del (n.*802del) c.*2326del (n.*2326del) c.2076del (p.Phe692LeufsTer10) c.93del (p.Phe31LeufsTer10) c.152del c.1402-7885del (n.1402-7885del) c.2412del (p.Phe804LeufsTer10) c.2592del (p.Phe864LeufsTer10) c.2259del (p.Phe753LeufsTer10) | ClinVar dbSNP gnomAD v4 |
7 | g.117594937T>A | CA368983797 | CFTR | c.2498T>A (p.Phe833Tyr) c.*2212T>A (n.*2212T>A) c.2315T>A (p.Phe772Tyr) c.*798T>A (n.*798T>A) c.*2322T>A (n.*2322T>A) c.2072T>A (p.Phe691Tyr) c.89T>A (p.Phe30Tyr) c.148T>A c.1402-7889T>A (n.1402-7889T>A) c.2408T>A (p.Phe803Tyr) c.2588T>A (p.Phe863Tyr) c.2255T>A (p.Phe752Tyr) | |
7 | g.117594937T>C | CA368983800 | CFTR | c.2498T>C (p.Phe833Ser) c.*2212T>C (n.*2212T>C) c.2315T>C (p.Phe772Ser) c.*798T>C (n.*798T>C) c.*2322T>C (n.*2322T>C) c.2072T>C (p.Phe691Ser) c.89T>C (p.Phe30Ser) c.148T>C c.1402-7889T>C (n.1402-7889T>C) c.2408T>C (p.Phe803Ser) c.2588T>C (p.Phe863Ser) c.2255T>C (p.Phe752Ser) | |
7 | g.117594937T>G | CA368983799 | CFTR | c.2498T>G (p.Phe833Cys) c.*2212T>G (n.*2212T>G) c.2315T>G (p.Phe772Cys) c.*798T>G (n.*798T>G) c.*2322T>G (n.*2322T>G) c.2072T>G (p.Phe691Cys) c.89T>G (p.Phe30Cys) c.148T>G c.1402-7889T>G (n.1402-7889T>G) c.2408T>G (p.Phe803Cys) c.2588T>G (p.Phe863Cys) c.2255T>G (p.Phe752Cys) | |
7 | g.117594938T>A | CA368983803 | CFTR | c.2499T>A (p.Phe833Leu) c.*2213T>A (n.*2213T>A) c.2316T>A (p.Phe772Leu) c.*799T>A (n.*799T>A) c.*2323T>A (n.*2323T>A) c.2073T>A (p.Phe691Leu) c.90T>A (p.Phe30Leu) c.149T>A c.1402-7888T>A (n.1402-7888T>A) c.2409T>A (p.Phe803Leu) c.2589T>A (p.Phe863Leu) c.2256T>A (p.Phe752Leu) | |
7 | g.117594938T>C | CA457227560 | CFTR | c.2499T>C (p.Phe833=) c.*2213T>C (n.*2213T>C) c.2316T>C (p.Phe772=) c.*799T>C (n.*799T>C) c.*2323T>C (n.*2323T>C) c.2073T>C (p.Phe691=) c.90T>C (p.Phe30=) c.149T>C c.1402-7888T>C (n.1402-7888T>C) c.2409T>C (p.Phe803=) c.2589T>C (p.Phe863=) c.2256T>C (p.Phe752=) | |
7 | g.117594938T>G | CA368983804 | CFTR | c.2499T>G (p.Phe833Leu) c.*2213T>G (n.*2213T>G) c.2316T>G (p.Phe772Leu) c.*799T>G (n.*799T>G) c.*2323T>G (n.*2323T>G) c.2073T>G (p.Phe691Leu) c.90T>G (p.Phe30Leu) c.149T>G c.1402-7888T>G (n.1402-7888T>G) c.2409T>G (p.Phe803Leu) c.2589T>G (p.Phe863Leu) c.2256T>G (p.Phe752Leu) | gnomAD v4 |
7 | g.117594939T>A | CA368983807 | CFTR | c.2500T>A (p.Phe834Ile) c.*2214T>A (n.*2214T>A) c.2317T>A (p.Phe773Ile) c.*800T>A (n.*800T>A) c.*2324T>A (n.*2324T>A) c.2074T>A (p.Phe692Ile) c.91T>A (p.Phe31Ile) c.150T>A c.1402-7887T>A (n.1402-7887T>A) c.2410T>A (p.Phe804Ile) c.2590T>A (p.Phe864Ile) c.2257T>A (p.Phe753Ile) | |
7 | g.117594939T>C | CA368983808 | CFTR | c.2500T>C (p.Phe834Leu) c.*2214T>C (n.*2214T>C) c.2317T>C (p.Phe773Leu) c.*800T>C (n.*800T>C) c.*2324T>C (n.*2324T>C) c.2074T>C (p.Phe692Leu) c.91T>C (p.Phe31Leu) c.150T>C c.1402-7887T>C (n.1402-7887T>C) c.2410T>C (p.Phe804Leu) c.2590T>C (p.Phe864Leu) c.2257T>C (p.Phe753Leu) | |
7 | g.117594939T>G | CA368983809 | CFTR | c.2500T>G (p.Phe834Val) c.*2214T>G (n.*2214T>G) c.2317T>G (p.Phe773Val) c.*800T>G (n.*800T>G) c.*2324T>G (n.*2324T>G) c.2074T>G (p.Phe692Val) c.91T>G (p.Phe31Val) c.150T>G c.1402-7887T>G (n.1402-7887T>G) c.2410T>G (p.Phe804Val) c.2590T>G (p.Phe864Val) c.2257T>G (p.Phe753Val) | |
7 | g.117594940T>A | CA368983811 | CFTR | c.2501T>A (p.Phe834Tyr) c.*2215T>A (n.*2215T>A) c.2318T>A (p.Phe773Tyr) c.*801T>A (n.*801T>A) c.*2325T>A (n.*2325T>A) c.2075T>A (p.Phe692Tyr) c.92T>A (p.Phe31Tyr) c.151T>A c.1402-7886T>A (n.1402-7886T>A) c.2411T>A (p.Phe804Tyr) c.2591T>A (p.Phe864Tyr) c.2258T>A (p.Phe753Tyr) | |
7 | g.117594940T>C | CA368983813 | CFTR | c.2501T>C (p.Phe834Ser) c.*2215T>C (n.*2215T>C) c.2318T>C (p.Phe773Ser) c.*801T>C (n.*801T>C) c.*2325T>C (n.*2325T>C) c.2075T>C (p.Phe692Ser) c.92T>C (p.Phe31Ser) c.151T>C c.1402-7886T>C (n.1402-7886T>C) c.2411T>C (p.Phe804Ser) c.2591T>C (p.Phe864Ser) c.2258T>C (p.Phe753Ser) | gnomAD v4 |
7 | g.117594940T>G | CA368983815 | CFTR | c.2501T>G (p.Phe834Cys) c.*2215T>G (n.*2215T>G) c.2318T>G (p.Phe773Cys) c.*801T>G (n.*801T>G) c.*2325T>G (n.*2325T>G) c.2075T>G (p.Phe692Cys) c.92T>G (p.Phe31Cys) c.151T>G c.1402-7886T>G (n.1402-7886T>G) c.2411T>G (p.Phe804Cys) c.2591T>G (p.Phe864Cys) c.2258T>G (p.Phe753Cys) | |
7 | g.117594941T>A | CA368983817 | CFTR | c.2502T>A (p.Phe834Leu) c.*2216T>A (n.*2216T>A) c.2319T>A (p.Phe773Leu) c.*802T>A (n.*802T>A) c.*2326T>A (n.*2326T>A) c.2076T>A (p.Phe692Leu) c.93T>A (p.Phe31Leu) c.152T>A c.1402-7885T>A (n.1402-7885T>A) c.2412T>A (p.Phe804Leu) c.2592T>A (p.Phe864Leu) c.2259T>A (p.Phe753Leu) | |
7 | g.117594941T>C | CA457227561 | CFTR | c.2502T>C (p.Phe834=) c.*2216T>C (n.*2216T>C) c.2319T>C (p.Phe773=) c.*802T>C (n.*802T>C) c.*2326T>C (n.*2326T>C) c.2076T>C (p.Phe692=) c.93T>C (p.Phe31=) c.152T>C c.1402-7885T>C (n.1402-7885T>C) c.2412T>C (p.Phe804=) c.2592T>C (p.Phe864=) c.2259T>C (p.Phe753=) | |
7 | g.117594941T>G | CA4451214 | CFTR | c.2502T>G (p.Phe834Leu) c.*2216T>G (n.*2216T>G) c.2319T>G (p.Phe773Leu) c.*802T>G (n.*802T>G) c.*2326T>G (n.*2326T>G) c.2076T>G (p.Phe692Leu) c.93T>G (p.Phe31Leu) c.152T>G c.1402-7885T>G (n.1402-7885T>G) c.2412T>G (p.Phe804Leu) c.2592T>G (p.Phe864Leu) c.2259T>G (p.Phe753Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594941T= | CA1737397689 | CFTR | c.2502T= (p.Phe834=) c.*2216T= (n.*2216T=) c.2319T= (p.Phe773=) c.*802T= (n.*802T=) c.*2326T= (n.*2326T=) c.2076T= (p.Phe692=) c.93T= (p.Phe31=) c.152T= c.1402-7885T= (n.1402-7885T=) c.2412T= (p.Phe804=) c.2592T= (p.Phe864=) c.2259T= (p.Phe753=) | |
7 | g.117594942G>A | CA368983819 | CFTR | c.2503G>A (p.Asp835Asn) c.*2217G>A (n.*2217G>A) c.2320G>A (p.Asp774Asn) c.*803G>A (n.*803G>A) c.*2327G>A (n.*2327G>A) c.2077G>A (p.Asp693Asn) c.94G>A (p.Asp32Asn) c.153G>A c.1402-7884G>A (n.1402-7884G>A) c.2413G>A (p.Asp805Asn) c.2593G>A (p.Asp865Asn) c.2260G>A (p.Asp754Asn) | ClinVar dbSNP |
7 | g.117594942G>C | CA368983822 | CFTR | c.2503G>C (p.Asp835His) c.*2217G>C (n.*2217G>C) c.2320G>C (p.Asp774His) c.*803G>C (n.*803G>C) c.*2327G>C (n.*2327G>C) c.2077G>C (p.Asp693His) c.94G>C (p.Asp32His) c.153G>C c.1402-7884G>C (n.1402-7884G>C) c.2413G>C (p.Asp805His) c.2593G>C (p.Asp865His) c.2260G>C (p.Asp754His) | |
7 | g.117594942G>T | CA368983821 | CFTR | c.2503G>T (p.Asp835Tyr) c.*2217G>T (n.*2217G>T) c.2320G>T (p.Asp774Tyr) c.*803G>T (n.*803G>T) c.*2327G>T (n.*2327G>T) c.2077G>T (p.Asp693Tyr) c.94G>T (p.Asp32Tyr) c.153G>T c.1402-7884G>T (n.1402-7884G>T) c.2413G>T (p.Asp805Tyr) c.2593G>T (p.Asp865Tyr) c.2260G>T (p.Asp754Tyr) | ClinVar |
7 | g.117594943A>C | CA368983824 | CFTR | c.2504A>C (p.Asp835Ala) c.*2218A>C (n.*2218A>C) c.2321A>C (p.Asp774Ala) c.*804A>C (n.*804A>C) c.*2328A>C (n.*2328A>C) c.2078A>C (p.Asp693Ala) c.95A>C (p.Asp32Ala) c.154A>C c.1402-7883A>C (n.1402-7883A>C) c.2414A>C (p.Asp805Ala) c.2594A>C (p.Asp865Ala) c.2261A>C (p.Asp754Ala) | |
7 | g.117594943A>G | CA368983825 | CFTR | c.2504A>G (p.Asp835Gly) c.*2218A>G (n.*2218A>G) c.2321A>G (p.Asp774Gly) c.*804A>G (n.*804A>G) c.*2328A>G (n.*2328A>G) c.2078A>G (p.Asp693Gly) c.95A>G (p.Asp32Gly) c.154A>G c.1402-7883A>G (n.1402-7883A>G) c.2414A>G (p.Asp805Gly) c.2594A>G (p.Asp865Gly) c.2261A>G (p.Asp754Gly) | |
7 | g.117594943A>T | CA368983827 | CFTR | c.2504A>T (p.Asp835Val) c.*2218A>T (n.*2218A>T) c.2321A>T (p.Asp774Val) c.*804A>T (n.*804A>T) c.*2328A>T (n.*2328A>T) c.2078A>T (p.Asp693Val) c.95A>T (p.Asp32Val) c.154A>T c.1402-7883A>T (n.1402-7883A>T) c.2414A>T (p.Asp805Val) c.2594A>T (p.Asp865Val) c.2261A>T (p.Asp754Val) | |
7 | g.117594944T>A | CA368983830 | CFTR | c.2505T>A (p.Asp835Glu) c.*2219T>A (n.*2219T>A) c.2322T>A (p.Asp774Glu) c.*805T>A (n.*805T>A) c.*2329T>A (n.*2329T>A) c.2079T>A (p.Asp693Glu) c.96T>A (p.Asp32Glu) c.155T>A c.1402-7882T>A (n.1402-7882T>A) c.2415T>A (p.Asp805Glu) c.2595T>A (p.Asp865Glu) c.2262T>A (p.Asp754Glu) | |
7 | g.117594944T>C | CA4451215 | CFTR | c.2505T>C (p.Asp835=) c.*2219T>C (n.*2219T>C) c.2322T>C (p.Asp774=) c.*805T>C (n.*805T>C) c.*2329T>C (n.*2329T>C) c.2079T>C (p.Asp693=) c.96T>C (p.Asp32=) c.155T>C c.1402-7882T>C (n.1402-7882T>C) c.2415T>C (p.Asp805=) c.2595T>C (p.Asp865=) c.2262T>C (p.Asp754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594944T>G | CA368983833 | CFTR | c.2505T>G (p.Asp835Glu) c.*2219T>G (n.*2219T>G) c.2322T>G (p.Asp774Glu) c.*805T>G (n.*805T>G) c.*2329T>G (n.*2329T>G) c.2079T>G (p.Asp693Glu) c.96T>G (p.Asp32Glu) c.155T>G c.1402-7882T>G (n.1402-7882T>G) c.2415T>G (p.Asp805Glu) c.2595T>G (p.Asp865Glu) c.2262T>G (p.Asp754Glu) | |
7 | g.117594944T= | CA1737397693 | CFTR | c.2505T= (p.Asp835=) c.*2219T= (n.*2219T=) c.2322T= (p.Asp774=) c.*805T= (n.*805T=) c.*2329T= (n.*2329T=) c.2079T= (p.Asp693=) c.96T= (p.Asp32=) c.155T= c.1402-7882T= (n.1402-7882T=) c.2415T= (p.Asp805=) c.2595T= (p.Asp865=) c.2262T= (p.Asp754=) | |
7 | g.117594945G>A | CA368983834 | CFTR | c.2506G>A (p.Asp836Asn) c.*2220G>A (n.*2220G>A) c.2323G>A (p.Asp775Asn) c.*806G>A (n.*806G>A) c.*2330G>A (n.*2330G>A) c.2080G>A (p.Asp694Asn) c.97G>A (p.Asp33Asn) c.156G>A c.1402-7881G>A (n.1402-7881G>A) c.2416G>A (p.Asp806Asn) c.2596G>A (p.Asp866Asn) c.2263G>A (p.Asp755Asn) | gnomAD v4 |
7 | g.117594945G>C | CA368983836 | CFTR | c.2506G>C (p.Asp836His) c.*2220G>C (n.*2220G>C) c.2323G>C (p.Asp775His) c.*806G>C (n.*806G>C) c.*2330G>C (n.*2330G>C) c.2080G>C (p.Asp694His) c.97G>C (p.Asp33His) c.156G>C c.1402-7881G>C (n.1402-7881G>C) c.2416G>C (p.Asp806His) c.2596G>C (p.Asp866His) c.2263G>C (p.Asp755His) | |
7 | g.117594945G= | CA1737397698 | CFTR | c.2506G= (p.Asp836=) c.*2220G= (n.*2220G=) c.2323G= (p.Asp775=) c.*806G= (n.*806G=) c.*2330G= (n.*2330G=) c.2080G= (p.Asp694=) c.97G= (p.Asp33=) c.156G= c.1402-7881G= (n.1402-7881G=) c.2416G= (p.Asp806=) c.2596G= (p.Asp866=) c.2263G= (p.Asp755=) | |
7 | g.117594945G>T | CA326836 | CFTR | c.2506G>T (p.Asp836Tyr) c.*2220G>T (n.*2220G>T) c.2323G>T (p.Asp775Tyr) c.*806G>T (n.*806G>T) c.*2330G>T (n.*2330G>T) c.2080G>T (p.Asp694Tyr) c.97G>T (p.Asp33Tyr) c.156G>T c.1402-7881G>T (n.1402-7881G>T) c.2416G>T (p.Asp806Tyr) c.2596G>T (p.Asp866Tyr) c.2263G>T (p.Asp755Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594946A>C | CA368983838 | CFTR | c.2507A>C (p.Asp836Ala) c.*2221A>C (n.*2221A>C) c.2324A>C (p.Asp775Ala) c.*807A>C (n.*807A>C) c.*2331A>C (n.*2331A>C) c.2081A>C (p.Asp694Ala) c.98A>C (p.Asp33Ala) c.157A>C c.1402-7880A>C (n.1402-7880A>C) c.2417A>C (p.Asp806Ala) c.2597A>C (p.Asp866Ala) c.2264A>C (p.Asp755Ala) | |
7 | g.117594946A>G | CA368983840 | CFTR | c.2507A>G (p.Asp836Gly) c.*2221A>G (n.*2221A>G) c.2324A>G (p.Asp775Gly) c.*807A>G (n.*807A>G) c.*2331A>G (n.*2331A>G) c.2081A>G (p.Asp694Gly) c.98A>G (p.Asp33Gly) c.157A>G c.1402-7880A>G (n.1402-7880A>G) c.2417A>G (p.Asp806Gly) c.2597A>G (p.Asp866Gly) c.2264A>G (p.Asp755Gly) | |
7 | g.117594946A>T | CA368983841 | CFTR | c.2507A>T (p.Asp836Val) c.*2221A>T (n.*2221A>T) c.2324A>T (p.Asp775Val) c.*807A>T (n.*807A>T) c.*2331A>T (n.*2331A>T) c.2081A>T (p.Asp694Val) c.98A>T (p.Asp33Val) c.157A>T c.1402-7880A>T (n.1402-7880A>T) c.2417A>T (p.Asp806Val) c.2597A>T (p.Asp866Val) c.2264A>T (p.Asp755Val) | |
7 | g.117594946_117594947delinsAT | CA1737397704 | CFTR | c.2507_2508delinsAT (p.Asp836=) c.*2221_*2222delinsAT (n.*2221_*2222delinsAT) c.2324_2325delinsAT (p.Asp775=) c.*807_*808delinsAT (n.*807_*808delinsAT) c.*2331_*2332delinsAT (n.*2331_*2332delinsAT) c.2081_2082delinsAT (p.Asp694=) c.98_99delinsAT (p.Asp33=) c.157_158delinsAT c.1402-7880_1402-7879delinsAT (n.1402-7880_1402-7879delinsAT) c.2417_2418delinsAT (p.Asp806=) c.2597_2598delinsAT (p.Asp866=) c.2264_2265delinsAT (p.Asp755=) | |
7 | g.117594947del | CA326838 | CFTR | c.2508del (p.Asp836GlufsTer8) c.*2222del (n.*2222del) c.2325del (p.Asp775GlufsTer8) c.*808del (n.*808del) c.*2332del (n.*2332del) c.2082del (p.Asp694GlufsTer8) c.99del (p.Asp33GlufsTer8) c.158del c.1402-7879del (n.1402-7879del) c.2418del (p.Asp806GlufsTer8) c.2598del (p.Asp866GlufsTer8) c.2265del (p.Asp755GlufsTer8) | ClinVar dbSNP |
7 | g.117594947T>A | CA368983846 | CFTR | c.2508T>A (p.Asp836Glu) c.*2222T>A (n.*2222T>A) c.2325T>A (p.Asp775Glu) c.*808T>A (n.*808T>A) c.*2332T>A (n.*2332T>A) c.2082T>A (p.Asp694Glu) c.99T>A (p.Asp33Glu) c.158T>A c.1402-7879T>A (n.1402-7879T>A) c.2418T>A (p.Asp806Glu) c.2598T>A (p.Asp866Glu) c.2265T>A (p.Asp755Glu) | |
7 | g.117594947T>C | CA457227562 | CFTR | c.2508T>C (p.Asp836=) c.*2222T>C (n.*2222T>C) c.2325T>C (p.Asp775=) c.*808T>C (n.*808T>C) c.*2332T>C (n.*2332T>C) c.2082T>C (p.Asp694=) c.99T>C (p.Asp33=) c.158T>C c.1402-7879T>C (n.1402-7879T>C) c.2418T>C (p.Asp806=) c.2598T>C (p.Asp866=) c.2265T>C (p.Asp755=) | ClinVar |
7 | g.117594947T>G | CA368983843 | CFTR | c.2508T>G (p.Asp836Glu) c.*2222T>G (n.*2222T>G) c.2325T>G (p.Asp775Glu) c.*808T>G (n.*808T>G) c.*2332T>G (n.*2332T>G) c.2082T>G (p.Asp694Glu) c.99T>G (p.Asp33Glu) c.158T>G c.1402-7879T>G (n.1402-7879T>G) c.2418T>G (p.Asp806Glu) c.2598T>G (p.Asp866Glu) c.2265T>G (p.Asp755Glu) | |
7 | g.117594948A>C | CA368983847 | CFTR | c.2509A>C (p.Met837Leu) c.*2223A>C (n.*2223A>C) c.2326A>C (p.Met776Leu) c.*809A>C (n.*809A>C) c.*2333A>C (n.*2333A>C) c.2083A>C (p.Met695Leu) c.100A>C (p.Met34Leu) c.159A>C c.1402-7878A>C (n.1402-7878A>C) c.2419A>C (p.Met807Leu) c.2599A>C (p.Met867Leu) c.2266A>C (p.Met756Leu) | |
7 | g.117594948A>G | CA368983849 | CFTR | c.2509A>G (p.Met837Val) c.*2223A>G (n.*2223A>G) c.2326A>G (p.Met776Val) c.*809A>G (n.*809A>G) c.*2333A>G (n.*2333A>G) c.2083A>G (p.Met695Val) c.100A>G (p.Met34Val) c.159A>G c.1402-7878A>G (n.1402-7878A>G) c.2419A>G (p.Met807Val) c.2599A>G (p.Met867Val) c.2266A>G (p.Met756Val) | |
7 | g.117594948A>T | CA368983850 | CFTR | c.2509A>T (p.Met837Leu) c.*2223A>T (n.*2223A>T) c.2326A>T (p.Met776Leu) c.*809A>T (n.*809A>T) c.*2333A>T (n.*2333A>T) c.2083A>T (p.Met695Leu) c.100A>T (p.Met34Leu) c.159A>T c.1402-7878A>T (n.1402-7878A>T) c.2419A>T (p.Met807Leu) c.2599A>T (p.Met867Leu) c.2266A>T (p.Met756Leu) | |
7 | g.117594949T>A | CA368983852 | CFTR | c.2510T>A (p.Met837Lys) c.*2224T>A (n.*2224T>A) c.2327T>A (p.Met776Lys) c.*810T>A (n.*810T>A) c.*2334T>A (n.*2334T>A) c.2084T>A (p.Met695Lys) c.101T>A (p.Met34Lys) c.160T>A c.1402-7877T>A (n.1402-7877T>A) c.2420T>A (p.Met807Lys) c.2600T>A (p.Met867Lys) c.2267T>A (p.Met756Lys) | |
7 | g.117594949T>C | CA4451216 | CFTR | c.2510T>C (p.Met837Thr) c.*2224T>C (n.*2224T>C) c.2327T>C (p.Met776Thr) c.*810T>C (n.*810T>C) c.*2334T>C (n.*2334T>C) c.2084T>C (p.Met695Thr) c.101T>C (p.Met34Thr) c.160T>C c.1402-7877T>C (n.1402-7877T>C) c.2420T>C (p.Met807Thr) c.2600T>C (p.Met867Thr) c.2267T>C (p.Met756Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594949T>G | CA368983853 | CFTR | c.2510T>G (p.Met837Arg) c.*2224T>G (n.*2224T>G) c.2327T>G (p.Met776Arg) c.*810T>G (n.*810T>G) c.*2334T>G (n.*2334T>G) c.2084T>G (p.Met695Arg) c.101T>G (p.Met34Arg) c.160T>G c.1402-7877T>G (n.1402-7877T>G) c.2420T>G (p.Met807Arg) c.2600T>G (p.Met867Arg) c.2267T>G (p.Met756Arg) | |
7 | g.117594949T= | CA1737397710 | CFTR | c.2510T= (p.Met837=) c.*2224T= (n.*2224T=) c.2327T= (p.Met776=) c.*810T= (n.*810T=) c.*2334T= (n.*2334T=) c.2084T= (p.Met695=) c.101T= (p.Met34=) c.160T= c.1402-7877T= (n.1402-7877T=) c.2420T= (p.Met807=) c.2600T= (p.Met867=) c.2267T= (p.Met756=) | |
7 | g.117594950G>A | CA164949878 | CFTR | c.2511G>A (p.Met837Ile) c.*2225G>A (n.*2225G>A) c.2328G>A (p.Met776Ile) c.*811G>A (n.*811G>A) c.*2335G>A (n.*2335G>A) c.2085G>A (p.Met695Ile) c.102G>A (p.Met34Ile) c.161G>A c.1402-7876G>A (n.1402-7876G>A) c.2421G>A (p.Met807Ile) c.2601G>A (p.Met867Ile) c.2268G>A (p.Met756Ile) | ClinVar dbSNP |
7 | g.117594950G>C | CA368983855 | CFTR | c.2511G>C (p.Met837Ile) c.*2225G>C (n.*2225G>C) c.2328G>C (p.Met776Ile) c.*811G>C (n.*811G>C) c.*2335G>C (n.*2335G>C) c.2085G>C (p.Met695Ile) c.102G>C (p.Met34Ile) c.161G>C c.1402-7876G>C (n.1402-7876G>C) c.2421G>C (p.Met807Ile) c.2601G>C (p.Met867Ile) c.2268G>C (p.Met756Ile) | |
7 | g.117594950G= | CA1737397714 | CFTR | c.2511G= (p.Met837=) c.*2225G= (n.*2225G=) c.2328G= (p.Met776=) c.*811G= (n.*811G=) c.*2335G= (n.*2335G=) c.2085G= (p.Met695=) c.102G= (p.Met34=) c.161G= c.1402-7876G= (n.1402-7876G=) c.2421G= (p.Met807=) c.2601G= (p.Met867=) c.2268G= (p.Met756=) | |
7 | g.117594950G>T | CA368983856 | CFTR | c.2511G>T (p.Met837Ile) c.*2225G>T (n.*2225G>T) c.2328G>T (p.Met776Ile) c.*811G>T (n.*811G>T) c.*2335G>T (n.*2335G>T) c.2085G>T (p.Met695Ile) c.102G>T (p.Met34Ile) c.161G>T c.1402-7876G>T (n.1402-7876G>T) c.2421G>T (p.Met807Ile) c.2601G>T (p.Met867Ile) c.2268G>T (p.Met756Ile) | |
7 | g.117594951G>A | CA368983857 | CFTR | c.2512G>A (p.Glu838Lys) c.*2226G>A (n.*2226G>A) c.2329G>A (p.Glu777Lys) c.*812G>A (n.*812G>A) c.*2336G>A (n.*2336G>A) c.2086G>A (p.Glu696Lys) c.103G>A (p.Glu35Lys) c.162G>A c.1402-7875G>A (n.1402-7875G>A) c.2422G>A (p.Glu808Lys) c.2602G>A (p.Glu868Lys) c.2269G>A (p.Glu757Lys) | dbSNP |
7 | g.117594951G>C | CA368983858 | CFTR | c.2512G>C (p.Glu838Gln) c.*2226G>C (n.*2226G>C) c.2329G>C (p.Glu777Gln) c.*812G>C (n.*812G>C) c.*2336G>C (n.*2336G>C) c.2086G>C (p.Glu696Gln) c.103G>C (p.Glu35Gln) c.162G>C c.1402-7875G>C (n.1402-7875G>C) c.2422G>C (p.Glu808Gln) c.2602G>C (p.Glu868Gln) c.2269G>C (p.Glu757Gln) | |
7 | g.117594951G= | CA1737397719 | CFTR | c.2512G= (p.Glu838=) c.*2226G= (n.*2226G=) c.2329G= (p.Glu777=) c.*812G= (n.*812G=) c.*2336G= (n.*2336G=) c.2086G= (p.Glu696=) c.103G= (p.Glu35=) c.162G= c.1402-7875G= (n.1402-7875G=) c.2422G= (p.Glu808=) c.2602G= (p.Glu868=) c.2269G= (p.Glu757=) | |
7 | g.117594951G>T | CA368983859 | CFTR | c.2512G>T (p.Glu838Ter) c.*2226G>T (n.*2226G>T) c.2329G>T (p.Glu777Ter) c.*812G>T (n.*812G>T) c.*2336G>T (n.*2336G>T) c.2086G>T (p.Glu696Ter) c.103G>T (p.Glu35Ter) c.162G>T c.1402-7875G>T (n.1402-7875G>T) c.2422G>T (p.Glu808Ter) c.2602G>T (p.Glu868Ter) c.2269G>T (p.Glu757Ter) | gnomAD v4 |
7 | g.117594952A>C | CA368983861 | CFTR | c.2513A>C (p.Glu838Ala) c.*2227A>C (n.*2227A>C) c.2330A>C (p.Glu777Ala) c.*813A>C (n.*813A>C) c.*2337A>C (n.*2337A>C) c.2087A>C (p.Glu696Ala) c.104A>C (p.Glu35Ala) c.163A>C c.1402-7874A>C (n.1402-7874A>C) c.2423A>C (p.Glu808Ala) c.2603A>C (p.Glu868Ala) c.2270A>C (p.Glu757Ala) | |
7 | g.117594952A>G | CA368983862 | CFTR | c.2513A>G (p.Glu838Gly) c.*2227A>G (n.*2227A>G) c.2330A>G (p.Glu777Gly) c.*813A>G (n.*813A>G) c.*2337A>G (n.*2337A>G) c.2087A>G (p.Glu696Gly) c.104A>G (p.Glu35Gly) c.163A>G c.1402-7874A>G (n.1402-7874A>G) c.2423A>G (p.Glu808Gly) c.2603A>G (p.Glu868Gly) c.2270A>G (p.Glu757Gly) | |
7 | g.117594952A>T | CA368983860 | CFTR | c.2513A>T (p.Glu838Val) c.*2227A>T (n.*2227A>T) c.2330A>T (p.Glu777Val) c.*813A>T (n.*813A>T) c.*2337A>T (n.*2337A>T) c.2087A>T (p.Glu696Val) c.104A>T (p.Glu35Val) c.163A>T c.1402-7874A>T (n.1402-7874A>T) c.2423A>T (p.Glu808Val) c.2603A>T (p.Glu868Val) c.2270A>T (p.Glu757Val) | gnomAD v4 |
7 | g.117594953G>A | CA457227563 | CFTR | c.2514G>A (p.Glu838=) c.*2228G>A (n.*2228G>A) c.2331G>A (p.Glu777=) c.*814G>A (n.*814G>A) c.*2338G>A (n.*2338G>A) c.2088G>A (p.Glu696=) c.105G>A (p.Glu35=) c.164G>A c.1402-7873G>A (n.1402-7873G>A) c.2424G>A (p.Glu808=) c.2604G>A (p.Glu868=) c.2271G>A (p.Glu757=) | dbSNP COSMIC |
7 | g.117594953G>C | CA368983864 | CFTR | c.2514G>C (p.Glu838Asp) c.*2228G>C (n.*2228G>C) c.2331G>C (p.Glu777Asp) c.*814G>C (n.*814G>C) c.*2338G>C (n.*2338G>C) c.2088G>C (p.Glu696Asp) c.105G>C (p.Glu35Asp) c.164G>C c.1402-7873G>C (n.1402-7873G>C) c.2424G>C (p.Glu808Asp) c.2604G>C (p.Glu868Asp) c.2271G>C (p.Glu757Asp) | |
7 | g.117594953G= | CA1737397722 | CFTR | c.2514G= (p.Glu838=) c.*2228G= (n.*2228G=) c.2331G= (p.Glu777=) c.*814G= (n.*814G=) c.*2338G= (n.*2338G=) c.2088G= (p.Glu696=) c.105G= (p.Glu35=) c.164G= c.1402-7873G= (n.1402-7873G=) c.2424G= (p.Glu808=) c.2604G= (p.Glu868=) c.2271G= (p.Glu757=) | |
7 | g.117594953G>T | CA368983863 | CFTR | c.2514G>T (p.Glu838Asp) c.*2228G>T (n.*2228G>T) c.2331G>T (p.Glu777Asp) c.*814G>T (n.*814G>T) c.*2338G>T (n.*2338G>T) c.2088G>T (p.Glu696Asp) c.105G>T (p.Glu35Asp) c.164G>T c.1402-7873G>T (n.1402-7873G>T) c.2424G>T (p.Glu808Asp) c.2604G>T (p.Glu868Asp) c.2271G>T (p.Glu757Asp) | |
7 | g.117594954A>C | CA368983865 | CFTR | c.2515A>C (p.Ser839Arg) c.*2229A>C (n.*2229A>C) c.2332A>C (p.Ser778Arg) c.*815A>C (n.*815A>C) c.*2339A>C (n.*2339A>C) c.2089A>C (p.Ser697Arg) c.106A>C (p.Ser36Arg) c.165A>C c.1402-7872A>C (n.1402-7872A>C) c.2425A>C (p.Ser809Arg) c.2605A>C (p.Ser869Arg) c.2272A>C (p.Ser758Arg) | ClinVar dbSNP |
7 | g.117594954A>G | CA368983866 | CFTR | c.2515A>G (p.Ser839Gly) c.*2229A>G (n.*2229A>G) c.2332A>G (p.Ser778Gly) c.*815A>G (n.*815A>G) c.*2339A>G (n.*2339A>G) c.2089A>G (p.Ser697Gly) c.106A>G (p.Ser36Gly) c.165A>G c.1402-7872A>G (n.1402-7872A>G) c.2425A>G (p.Ser809Gly) c.2605A>G (p.Ser869Gly) c.2272A>G (p.Ser758Gly) | ClinVar |
7 | g.117594954A>T | CA368983867 | CFTR | c.2515A>T (p.Ser839Cys) c.*2229A>T (n.*2229A>T) c.2332A>T (p.Ser778Cys) c.*815A>T (n.*815A>T) c.*2339A>T (n.*2339A>T) c.2089A>T (p.Ser697Cys) c.106A>T (p.Ser36Cys) c.165A>T c.1402-7872A>T (n.1402-7872A>T) c.2425A>T (p.Ser809Cys) c.2605A>T (p.Ser869Cys) c.2272A>T (p.Ser758Cys) | |
7 | g.117594955G>A | CA368983868 | CFTR | c.2516G>A (p.Ser839Asn) c.*2230G>A (n.*2230G>A) c.2333G>A (p.Ser778Asn) c.*816G>A (n.*816G>A) c.*2340G>A (n.*2340G>A) c.2090G>A (p.Ser697Asn) c.107G>A (p.Ser36Asn) c.166G>A c.1402-7871G>A (n.1402-7871G>A) c.2426G>A (p.Ser809Asn) c.2606G>A (p.Ser869Asn) c.2273G>A (p.Ser758Asn) | |
7 | g.117594955G>C | CA368983869 | CFTR | c.2516G>C (p.Ser839Thr) c.*2230G>C (n.*2230G>C) c.2333G>C (p.Ser778Thr) c.*816G>C (n.*816G>C) c.*2340G>C (n.*2340G>C) c.2090G>C (p.Ser697Thr) c.107G>C (p.Ser36Thr) c.166G>C c.1402-7871G>C (n.1402-7871G>C) c.2426G>C (p.Ser809Thr) c.2606G>C (p.Ser869Thr) c.2273G>C (p.Ser758Thr) | gnomAD v4 |
7 | g.117594955G>T | CA368983870 | CFTR | c.2516G>T (p.Ser839Ile) c.*2230G>T (n.*2230G>T) c.2333G>T (p.Ser778Ile) c.*816G>T (n.*816G>T) c.*2340G>T (n.*2340G>T) c.2090G>T (p.Ser697Ile) c.107G>T (p.Ser36Ile) c.166G>T c.1402-7871G>T (n.1402-7871G>T) c.2426G>T (p.Ser809Ile) c.2606G>T (p.Ser869Ile) c.2273G>T (p.Ser758Ile) | |
7 | g.117594956C>A | CA368983871 | CFTR | c.2517C>A (p.Ser839Arg) c.*2231C>A (n.*2231C>A) c.2334C>A (p.Ser778Arg) c.*817C>A (n.*817C>A) c.*2341C>A (n.*2341C>A) c.2091C>A (p.Ser697Arg) c.108C>A (p.Ser36Arg) c.167C>A c.1402-7870C>A (n.1402-7870C>A) c.2427C>A (p.Ser809Arg) c.2607C>A (p.Ser869Arg) c.2274C>A (p.Ser758Arg) | |
7 | g.117594956C>G | CA368983872 | CFTR | c.2517C>G (p.Ser839Arg) c.*2231C>G (n.*2231C>G) c.2334C>G (p.Ser778Arg) c.*817C>G (n.*817C>G) c.*2341C>G (n.*2341C>G) c.2091C>G (p.Ser697Arg) c.108C>G (p.Ser36Arg) c.167C>G c.1402-7870C>G (n.1402-7870C>G) c.2427C>G (p.Ser809Arg) c.2607C>G (p.Ser869Arg) c.2274C>G (p.Ser758Arg) | |
7 | g.117594956C>T | CA457227564 | CFTR | c.2517C>T (p.Ser839=) c.*2231C>T (n.*2231C>T) c.2334C>T (p.Ser778=) c.*817C>T (n.*817C>T) c.*2341C>T (n.*2341C>T) c.2091C>T (p.Ser697=) c.108C>T (p.Ser36=) c.167C>T c.1402-7870C>T (n.1402-7870C>T) c.2427C>T (p.Ser809=) c.2607C>T (p.Ser869=) c.2274C>T (p.Ser758=) | |
7 | g.117594957A>C | CA368983873 | CFTR | c.2518A>C (p.Ile840Leu) c.*2232A>C (n.*2232A>C) c.2335A>C (p.Ile779Leu) c.*818A>C (n.*818A>C) c.*2342A>C (n.*2342A>C) c.2092A>C (p.Ile698Leu) c.109A>C (p.Ile37Leu) c.168A>C c.1402-7869A>C (n.1402-7869A>C) c.2428A>C (p.Ile810Leu) c.2608A>C (p.Ile870Leu) c.2275A>C (p.Ile759Leu) | |
7 | g.117594957A>G | CA368983874 | CFTR | c.2518A>G (p.Ile840Val) c.*2232A>G (n.*2232A>G) c.2335A>G (p.Ile779Val) c.*818A>G (n.*818A>G) c.*2342A>G (n.*2342A>G) c.2092A>G (p.Ile698Val) c.109A>G (p.Ile37Val) c.168A>G c.1402-7869A>G (n.1402-7869A>G) c.2428A>G (p.Ile810Val) c.2608A>G (p.Ile870Val) c.2275A>G (p.Ile759Val) | |
7 | g.117594957A>T | CA368983875 | CFTR | c.2518A>T (p.Ile840Leu) c.*2232A>T (n.*2232A>T) c.2335A>T (p.Ile779Leu) c.*818A>T (n.*818A>T) c.*2342A>T (n.*2342A>T) c.2092A>T (p.Ile698Leu) c.109A>T (p.Ile37Leu) c.168A>T c.1402-7869A>T (n.1402-7869A>T) c.2428A>T (p.Ile810Leu) c.2608A>T (p.Ile870Leu) c.2275A>T (p.Ile759Leu) | |
7 | g.117594958T>A | CA368983876 | CFTR | c.2519T>A (p.Ile840Lys) c.*2233T>A (n.*2233T>A) c.2336T>A (p.Ile779Lys) c.*819T>A (n.*819T>A) c.*2343T>A (n.*2343T>A) c.2093T>A (p.Ile698Lys) c.110T>A (p.Ile37Lys) c.169T>A c.1402-7868T>A (n.1402-7868T>A) c.2429T>A (p.Ile810Lys) c.2609T>A (p.Ile870Lys) c.2276T>A (p.Ile759Lys) | |
7 | g.117594958T>C | CA368983877 | CFTR | c.2519T>C (p.Ile840Thr) c.*2233T>C (n.*2233T>C) c.2336T>C (p.Ile779Thr) c.*819T>C (n.*819T>C) c.*2343T>C (n.*2343T>C) c.2093T>C (p.Ile698Thr) c.110T>C (p.Ile37Thr) c.169T>C c.1402-7868T>C (n.1402-7868T>C) c.2429T>C (p.Ile810Thr) c.2609T>C (p.Ile870Thr) c.2276T>C (p.Ile759Thr) | ClinVar gnomAD v4 |
7 | g.117594958T>G | CA368983878 | CFTR | c.2519T>G (p.Ile840Arg) c.*2233T>G (n.*2233T>G) c.2336T>G (p.Ile779Arg) c.*819T>G (n.*819T>G) c.*2343T>G (n.*2343T>G) c.2093T>G (p.Ile698Arg) c.110T>G (p.Ile37Arg) c.169T>G c.1402-7868T>G (n.1402-7868T>G) c.2429T>G (p.Ile810Arg) c.2609T>G (p.Ile870Arg) c.2276T>G (p.Ile759Arg) | |
7 | g.117594959A>C | CA457227565 | CFTR | c.2520A>C (p.Ile840=) c.*2234A>C (n.*2234A>C) c.2337A>C (p.Ile779=) c.*820A>C (n.*820A>C) c.*2344A>C (n.*2344A>C) c.2094A>C (p.Ile698=) c.111A>C (p.Ile37=) c.170A>C c.1402-7867A>C (n.1402-7867A>C) c.2430A>C (p.Ile810=) c.2610A>C (p.Ile870=) c.2277A>C (p.Ile759=) | |
7 | g.117594959A>G | CA368983879 | CFTR | c.2520A>G (p.Ile840Met) c.*2234A>G (n.*2234A>G) c.2337A>G (p.Ile779Met) c.*820A>G (n.*820A>G) c.*2344A>G (n.*2344A>G) c.2094A>G (p.Ile698Met) c.111A>G (p.Ile37Met) c.170A>G c.1402-7867A>G (n.1402-7867A>G) c.2430A>G (p.Ile810Met) c.2610A>G (p.Ile870Met) c.2277A>G (p.Ile759Met) | |
7 | g.117594959A>T | CA457227566 | CFTR | c.2520A>T (p.Ile840=) c.*2234A>T (n.*2234A>T) c.2337A>T (p.Ile779=) c.*820A>T (n.*820A>T) c.*2344A>T (n.*2344A>T) c.2094A>T (p.Ile698=) c.111A>T (p.Ile37=) c.170A>T c.1402-7867A>T (n.1402-7867A>T) c.2430A>T (p.Ile810=) c.2610A>T (p.Ile870=) c.2277A>T (p.Ile759=) | |
7 | g.117594960C>A | CA368983880 | CFTR | c.2521C>A (p.Pro841Thr) c.*2235C>A (n.*2235C>A) c.2338C>A (p.Pro780Thr) c.*821C>A (n.*821C>A) c.*2345C>A (n.*2345C>A) c.2095C>A (p.Pro699Thr) c.112C>A (p.Pro38Thr) c.171C>A c.1402-7866C>A (n.1402-7866C>A) c.2431C>A (p.Pro811Thr) c.2611C>A (p.Pro871Thr) c.2278C>A (p.Pro760Thr) | dbSNP |
7 | g.117594960C= | CA1737397726 | CFTR | c.2521C= (p.Pro841=) c.*2235C= (n.*2235C=) c.2338C= (p.Pro780=) c.*821C= (n.*821C=) c.*2345C= (n.*2345C=) c.2095C= (p.Pro699=) c.112C= (p.Pro38=) c.171C= c.1402-7866C= (n.1402-7866C=) c.2431C= (p.Pro811=) c.2611C= (p.Pro871=) c.2278C= (p.Pro760=) | |
7 | g.117594960C>G | CA368983881 | CFTR | c.2521C>G (p.Pro841Ala) c.*2235C>G (n.*2235C>G) c.2338C>G (p.Pro780Ala) c.*821C>G (n.*821C>G) c.*2345C>G (n.*2345C>G) c.2095C>G (p.Pro699Ala) c.112C>G (p.Pro38Ala) c.171C>G c.1402-7866C>G (n.1402-7866C>G) c.2431C>G (p.Pro811Ala) c.2611C>G (p.Pro871Ala) c.2278C>G (p.Pro760Ala) | |
7 | g.117594960C>T | CA368983882 | CFTR | c.2521C>T (p.Pro841Ser) c.*2235C>T (n.*2235C>T) c.2338C>T (p.Pro780Ser) c.*821C>T (n.*821C>T) c.*2345C>T (n.*2345C>T) c.2095C>T (p.Pro699Ser) c.112C>T (p.Pro38Ser) c.171C>T c.1402-7866C>T (n.1402-7866C>T) c.2431C>T (p.Pro811Ser) c.2611C>T (p.Pro871Ser) c.2278C>T (p.Pro760Ser) | dbSNP COSMIC |
7 | g.117594961C>A | CA368983883 | CFTR | c.2522C>A (p.Pro841Gln) c.*2236C>A (n.*2236C>A) c.2339C>A (p.Pro780Gln) c.*822C>A (n.*822C>A) c.*2346C>A (n.*2346C>A) c.2096C>A (p.Pro699Gln) c.113C>A (p.Pro38Gln) c.172C>A c.1402-7865C>A (n.1402-7865C>A) c.2432C>A (p.Pro811Gln) c.2612C>A (p.Pro871Gln) c.2279C>A (p.Pro760Gln) | |
7 | g.117594961C= | CA1737397732 | CFTR | c.2522C= (p.Pro841=) c.*2236C= (n.*2236C=) c.2339C= (p.Pro780=) c.*822C= (n.*822C=) c.*2346C= (n.*2346C=) c.2096C= (p.Pro699=) c.113C= (p.Pro38=) c.172C= c.1402-7865C= (n.1402-7865C=) c.2432C= (p.Pro811=) c.2612C= (p.Pro871=) c.2279C= (p.Pro760=) | |
7 | g.117594961C>G | CA326839 | CFTR | c.2522C>G (p.Pro841Arg) c.*2236C>G (n.*2236C>G) c.2339C>G (p.Pro780Arg) c.*822C>G (n.*822C>G) c.*2346C>G (n.*2346C>G) c.2096C>G (p.Pro699Arg) c.113C>G (p.Pro38Arg) c.172C>G c.1402-7865C>G (n.1402-7865C>G) c.2432C>G (p.Pro811Arg) c.2612C>G (p.Pro871Arg) c.2279C>G (p.Pro760Arg) | ClinVar dbSNP |
7 | g.117594961C>T | CA368983884 | CFTR | c.2522C>T (p.Pro841Leu) c.*2236C>T (n.*2236C>T) c.2339C>T (p.Pro780Leu) c.*822C>T (n.*822C>T) c.*2346C>T (n.*2346C>T) c.2096C>T (p.Pro699Leu) c.113C>T (p.Pro38Leu) c.172C>T c.1402-7865C>T (n.1402-7865C>T) c.2432C>T (p.Pro811Leu) c.2612C>T (p.Pro871Leu) c.2279C>T (p.Pro760Leu) | dbSNP |
7 | g.117594962A= | CA1737397738 | CFTR | c.2523A= (p.Pro841=) c.*2237A= (n.*2237A=) c.2340A= (p.Pro780=) c.*823A= (n.*823A=) c.*2347A= (n.*2347A=) c.2097A= (p.Pro699=) c.114A= (p.Pro38=) c.173A= c.1402-7864A= (n.1402-7864A=) c.2433A= (p.Pro811=) c.2613A= (p.Pro871=) c.2280A= (p.Pro760=) | |
7 | g.117594962A>C | CA457227568 | CFTR | c.2523A>C (p.Pro841=) c.*2237A>C (n.*2237A>C) c.2340A>C (p.Pro780=) c.*823A>C (n.*823A>C) c.*2347A>C (n.*2347A>C) c.2097A>C (p.Pro699=) c.114A>C (p.Pro38=) c.173A>C c.1402-7864A>C (n.1402-7864A>C) c.2433A>C (p.Pro811=) c.2613A>C (p.Pro871=) c.2280A>C (p.Pro760=) | |
7 | g.117594962A>G | CA457227569 | CFTR | c.2523A>G (p.Pro841=) c.*2237A>G (n.*2237A>G) c.2340A>G (p.Pro780=) c.*823A>G (n.*823A>G) c.*2347A>G (n.*2347A>G) c.2097A>G (p.Pro699=) c.114A>G (p.Pro38=) c.173A>G c.1402-7864A>G (n.1402-7864A>G) c.2433A>G (p.Pro811=) c.2613A>G (p.Pro871=) c.2280A>G (p.Pro760=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117594962A>T | CA457227567 | CFTR | c.2523A>T (p.Pro841=) c.*2237A>T (n.*2237A>T) c.2340A>T (p.Pro780=) c.*823A>T (n.*823A>T) c.*2347A>T (n.*2347A>T) c.2097A>T (p.Pro699=) c.114A>T (p.Pro38=) c.173A>T c.1402-7864A>T (n.1402-7864A>T) c.2433A>T (p.Pro811=) c.2613A>T (p.Pro871=) c.2280A>T (p.Pro760=) | COSMIC |
7 | g.117594963G>A | CA368983885 | CFTR | c.2524G>A (p.Ala842Thr) c.*2238G>A (n.*2238G>A) c.2341G>A (p.Ala781Thr) c.*824G>A (n.*824G>A) c.*2348G>A (n.*2348G>A) c.2098G>A (p.Ala700Thr) c.115G>A (p.Ala39Thr) c.174G>A c.1402-7863G>A (n.1402-7863G>A) c.2434G>A (p.Ala812Thr) c.2614G>A (p.Ala872Thr) c.2281G>A (p.Ala761Thr) | |
7 | g.117594963G>C | CA368983886 | CFTR | c.2524G>C (p.Ala842Pro) c.*2238G>C (n.*2238G>C) c.2341G>C (p.Ala781Pro) c.*824G>C (n.*824G>C) c.*2348G>C (n.*2348G>C) c.2098G>C (p.Ala700Pro) c.115G>C (p.Ala39Pro) c.174G>C c.1402-7863G>C (n.1402-7863G>C) c.2434G>C (p.Ala812Pro) c.2614G>C (p.Ala872Pro) c.2281G>C (p.Ala761Pro) | |
7 | g.117594963G>T | CA368983887 | CFTR | c.2524G>T (p.Ala842Ser) c.*2238G>T (n.*2238G>T) c.2341G>T (p.Ala781Ser) c.*824G>T (n.*824G>T) c.*2348G>T (n.*2348G>T) c.2098G>T (p.Ala700Ser) c.115G>T (p.Ala39Ser) c.174G>T c.1402-7863G>T (n.1402-7863G>T) c.2434G>T (p.Ala812Ser) c.2614G>T (p.Ala872Ser) c.2281G>T (p.Ala761Ser) | |
7 | g.117594964C>A | CA368983888 | CFTR | c.2525C>A (p.Ala842Glu) c.*2239C>A (n.*2239C>A) c.2342C>A (p.Ala781Glu) c.*825C>A (n.*825C>A) c.*2349C>A (n.*2349C>A) c.2099C>A (p.Ala700Glu) c.116C>A (p.Ala39Glu) c.175C>A c.1402-7862C>A (n.1402-7862C>A) c.2435C>A (p.Ala812Glu) c.2615C>A (p.Ala872Glu) c.2282C>A (p.Ala761Glu) | |
7 | g.117594964C>G | CA368983889 | CFTR | c.2525C>G (p.Ala842Gly) c.*2239C>G (n.*2239C>G) c.2342C>G (p.Ala781Gly) c.*825C>G (n.*825C>G) c.*2349C>G (n.*2349C>G) c.2099C>G (p.Ala700Gly) c.116C>G (p.Ala39Gly) c.175C>G c.1402-7862C>G (n.1402-7862C>G) c.2435C>G (p.Ala812Gly) c.2615C>G (p.Ala872Gly) c.2282C>G (p.Ala761Gly) | |
7 | g.117594964C>T | CA368983890 | CFTR | c.2525C>T (p.Ala842Val) c.*2239C>T (n.*2239C>T) c.2342C>T (p.Ala781Val) c.*825C>T (n.*825C>T) c.*2349C>T (n.*2349C>T) c.2099C>T (p.Ala700Val) c.116C>T (p.Ala39Val) c.175C>T c.1402-7862C>T (n.1402-7862C>T) c.2435C>T (p.Ala812Val) c.2615C>T (p.Ala872Val) c.2282C>T (p.Ala761Val) | |
7 | g.117594965A= | CA1737397744 | CFTR | c.2526A= (p.Ala842=) c.*2240A= (n.*2240A=) c.2343A= (p.Ala781=) c.*826A= (n.*826A=) c.*2350A= (n.*2350A=) c.2100A= (p.Ala700=) c.117A= (p.Ala39=) c.176A= c.1402-7861A= (n.1402-7861A=) c.2436A= (p.Ala812=) c.2616A= (p.Ala872=) c.2283A= (p.Ala761=) | |
7 | g.117594965A>C | CA457227570 | CFTR | c.2526A>C (p.Ala842=) c.*2240A>C (n.*2240A>C) c.2343A>C (p.Ala781=) c.*826A>C (n.*826A>C) c.*2350A>C (n.*2350A>C) c.2100A>C (p.Ala700=) c.117A>C (p.Ala39=) c.176A>C c.1402-7861A>C (n.1402-7861A>C) c.2436A>C (p.Ala812=) c.2616A>C (p.Ala872=) c.2283A>C (p.Ala761=) | |
7 | g.117594965A>G | CA4451217 | CFTR | c.2526A>G (p.Ala842=) c.*2240A>G (n.*2240A>G) c.2343A>G (p.Ala781=) c.*826A>G (n.*826A>G) c.*2350A>G (n.*2350A>G) c.2100A>G (p.Ala700=) c.117A>G (p.Ala39=) c.176A>G c.1402-7861A>G (n.1402-7861A>G) c.2436A>G (p.Ala812=) c.2616A>G (p.Ala872=) c.2283A>G (p.Ala761=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594965A>T | CA457227571 | CFTR | c.2526A>T (p.Ala842=) c.*2240A>T (n.*2240A>T) c.2343A>T (p.Ala781=) c.*826A>T (n.*826A>T) c.*2350A>T (n.*2350A>T) c.2100A>T (p.Ala700=) c.117A>T (p.Ala39=) c.176A>T c.1402-7861A>T (n.1402-7861A>T) c.2436A>T (p.Ala812=) c.2616A>T (p.Ala872=) c.2283A>T (p.Ala761=) | |
7 | g.117594966G>A | CA368983893 | CFTR | c.2527G>A (p.Val843Met) c.*2241G>A (n.*2241G>A) c.2344G>A (p.Val782Met) c.*827G>A (n.*827G>A) c.*2351G>A (n.*2351G>A) c.2101G>A (p.Val701Met) c.118G>A (p.Val40Met) c.177G>A c.1402-7860G>A (n.1402-7860G>A) c.2437G>A (p.Val813Met) c.2617G>A (p.Val873Met) c.2284G>A (p.Val762Met) | |
7 | g.117594966G>C | CA368983892 | CFTR | c.2527G>C (p.Val843Leu) c.*2241G>C (n.*2241G>C) c.2344G>C (p.Val782Leu) c.*827G>C (n.*827G>C) c.*2351G>C (n.*2351G>C) c.2101G>C (p.Val701Leu) c.118G>C (p.Val40Leu) c.177G>C c.1402-7860G>C (n.1402-7860G>C) c.2437G>C (p.Val813Leu) c.2617G>C (p.Val873Leu) c.2284G>C (p.Val762Leu) | |
7 | g.117594966G>T | CA368983891 | CFTR | c.2527G>T (p.Val843Leu) c.*2241G>T (n.*2241G>T) c.2344G>T (p.Val782Leu) c.*827G>T (n.*827G>T) c.*2351G>T (n.*2351G>T) c.2101G>T (p.Val701Leu) c.118G>T (p.Val40Leu) c.177G>T c.1402-7860G>T (n.1402-7860G>T) c.2437G>T (p.Val813Leu) c.2617G>T (p.Val873Leu) c.2284G>T (p.Val762Leu) | |
7 | g.117594967T>A | CA368983894 | CFTR | c.2528T>A (p.Val843Glu) c.*2242T>A (n.*2242T>A) c.2345T>A (p.Val782Glu) c.*828T>A (n.*828T>A) c.*2352T>A (n.*2352T>A) c.2102T>A (p.Val701Glu) c.119T>A (p.Val40Glu) c.178T>A c.1402-7859T>A (n.1402-7859T>A) c.2438T>A (p.Val813Glu) c.2618T>A (p.Val873Glu) c.2285T>A (p.Val762Glu) | ClinVar |
7 | g.117594967T>C | CA368983895 | CFTR | c.2528T>C (p.Val843Ala) c.*2242T>C (n.*2242T>C) c.2345T>C (p.Val782Ala) c.*828T>C (n.*828T>C) c.*2352T>C (n.*2352T>C) c.2102T>C (p.Val701Ala) c.119T>C (p.Val40Ala) c.178T>C c.1402-7859T>C (n.1402-7859T>C) c.2438T>C (p.Val813Ala) c.2618T>C (p.Val873Ala) c.2285T>C (p.Val762Ala) | |
7 | g.117594967T>G | CA368983896 | CFTR | c.2528T>G (p.Val843Gly) c.*2242T>G (n.*2242T>G) c.2345T>G (p.Val782Gly) c.*828T>G (n.*828T>G) c.*2352T>G (n.*2352T>G) c.2102T>G (p.Val701Gly) c.119T>G (p.Val40Gly) c.178T>G c.1402-7859T>G (n.1402-7859T>G) c.2438T>G (p.Val813Gly) c.2618T>G (p.Val873Gly) c.2285T>G (p.Val762Gly) | |
7 | g.117594968G>A | CA457227572 | CFTR | c.2529G>A (p.Val843=) c.*2243G>A (n.*2243G>A) c.2346G>A (p.Val782=) c.*829G>A (n.*829G>A) c.*2353G>A (n.*2353G>A) c.2103G>A (p.Val701=) c.120G>A (p.Val40=) c.179G>A c.1402-7858G>A (n.1402-7858G>A) c.2439G>A (p.Val813=) c.2619G>A (p.Val873=) c.2286G>A (p.Val762=) | ClinVar |
7 | g.117594968G>C | CA457227573 | CFTR | c.2529G>C (p.Val843=) c.*2243G>C (n.*2243G>C) c.2346G>C (p.Val782=) c.*829G>C (n.*829G>C) c.*2353G>C (n.*2353G>C) c.2103G>C (p.Val701=) c.120G>C (p.Val40=) c.179G>C c.1402-7858G>C (n.1402-7858G>C) c.2439G>C (p.Val813=) c.2619G>C (p.Val873=) c.2286G>C (p.Val762=) | |
7 | g.117594968G>T | CA457227574 | CFTR | c.2529G>T (p.Val843=) c.*2243G>T (n.*2243G>T) c.2346G>T (p.Val782=) c.*829G>T (n.*829G>T) c.*2353G>T (n.*2353G>T) c.2103G>T (p.Val701=) c.120G>T (p.Val40=) c.179G>T c.1402-7858G>T (n.1402-7858G>T) c.2439G>T (p.Val813=) c.2619G>T (p.Val873=) c.2286G>T (p.Val762=) | ClinVar gnomAD v4 |
7 | g.117594969A>C | CA368983897 | CFTR | c.2530A>C (p.Thr844Pro) c.*2244A>C (n.*2244A>C) c.2347A>C (p.Thr783Pro) c.*830A>C (n.*830A>C) c.*2354A>C (n.*2354A>C) c.2104A>C (p.Thr702Pro) c.121A>C (p.Thr41Pro) c.180A>C c.1402-7857A>C (n.1402-7857A>C) c.2440A>C (p.Thr814Pro) c.2620A>C (p.Thr874Pro) c.2287A>C (p.Thr763Pro) | |
7 | g.117594969A>G | CA368983898 | CFTR | c.2530A>G (p.Thr844Ala) c.*2244A>G (n.*2244A>G) c.2347A>G (p.Thr783Ala) c.*830A>G (n.*830A>G) c.*2354A>G (n.*2354A>G) c.2104A>G (p.Thr702Ala) c.121A>G (p.Thr41Ala) c.180A>G c.1402-7857A>G (n.1402-7857A>G) c.2440A>G (p.Thr814Ala) c.2620A>G (p.Thr874Ala) c.2287A>G (p.Thr763Ala) | |
7 | g.117594969A>T | CA368983899 | CFTR | c.2530A>T (p.Thr844Ser) c.*2244A>T (n.*2244A>T) c.2347A>T (p.Thr783Ser) c.*830A>T (n.*830A>T) c.*2354A>T (n.*2354A>T) c.2104A>T (p.Thr702Ser) c.121A>T (p.Thr41Ser) c.180A>T c.1402-7857A>T (n.1402-7857A>T) c.2440A>T (p.Thr814Ser) c.2620A>T (p.Thr874Ser) c.2287A>T (p.Thr763Ser) | |
7 | g.117594970C>A | CA368983902 | CFTR | c.2531C>A (p.Thr844Asn) c.*2245C>A (n.*2245C>A) c.2348C>A (p.Thr783Asn) c.*831C>A (n.*831C>A) c.*2355C>A (n.*2355C>A) c.2105C>A (p.Thr702Asn) c.122C>A (p.Thr41Asn) c.181C>A c.1402-7856C>A (n.1402-7856C>A) c.2441C>A (p.Thr814Asn) c.2621C>A (p.Thr874Asn) c.2288C>A (p.Thr763Asn) | |
7 | g.117594970C= | CA1737397747 | CFTR | c.2531C= (p.Thr844=) c.*2245C= (n.*2245C=) c.2348C= (p.Thr783=) c.*831C= (n.*831C=) c.*2355C= (n.*2355C=) c.2105C= (p.Thr702=) c.122C= (p.Thr41=) c.181C= c.1402-7856C= (n.1402-7856C=) c.2441C= (p.Thr814=) c.2621C= (p.Thr874=) c.2288C= (p.Thr763=) | |
7 | g.117594970C>G | CA368983901 | CFTR | c.2531C>G (p.Thr844Ser) c.*2245C>G (n.*2245C>G) c.2348C>G (p.Thr783Ser) c.*831C>G (n.*831C>G) c.*2355C>G (n.*2355C>G) c.2105C>G (p.Thr702Ser) c.122C>G (p.Thr41Ser) c.181C>G c.1402-7856C>G (n.1402-7856C>G) c.2441C>G (p.Thr814Ser) c.2621C>G (p.Thr874Ser) c.2288C>G (p.Thr763Ser) | |
7 | g.117594970C>T | CA368983900 | CFTR | c.2531C>T (p.Thr844Ile) c.*2245C>T (n.*2245C>T) c.2348C>T (p.Thr783Ile) c.*831C>T (n.*831C>T) c.*2355C>T (n.*2355C>T) c.2105C>T (p.Thr702Ile) c.122C>T (p.Thr41Ile) c.181C>T c.1402-7856C>T (n.1402-7856C>T) c.2441C>T (p.Thr814Ile) c.2621C>T (p.Thr874Ile) c.2288C>T (p.Thr763Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117594971T>A | CA457227575 | CFTR | c.2532T>A (p.Thr844=) c.*2246T>A (n.*2246T>A) c.2349T>A (p.Thr783=) c.*832T>A (n.*832T>A) c.*2356T>A (n.*2356T>A) c.2106T>A (p.Thr702=) c.123T>A (p.Thr41=) c.182T>A c.1402-7855T>A (n.1402-7855T>A) c.2442T>A (p.Thr814=) c.2622T>A (p.Thr874=) c.2289T>A (p.Thr763=) | |
7 | g.117594971T>C | CA164949899 | CFTR | c.2532T>C (p.Thr844=) c.*2246T>C (n.*2246T>C) c.2349T>C (p.Thr783=) c.*832T>C (n.*832T>C) c.*2356T>C (n.*2356T>C) c.2106T>C (p.Thr702=) c.123T>C (p.Thr41=) c.182T>C c.1402-7855T>C (n.1402-7855T>C) c.2442T>C (p.Thr814=) c.2622T>C (p.Thr874=) c.2289T>C (p.Thr763=) | dbSNP |
7 | g.117594971T>G | CA457227576 | CFTR | c.2532T>G (p.Thr844=) c.*2246T>G (n.*2246T>G) c.2349T>G (p.Thr783=) c.*832T>G (n.*832T>G) c.*2356T>G (n.*2356T>G) c.2106T>G (p.Thr702=) c.123T>G (p.Thr41=) c.182T>G c.1402-7855T>G (n.1402-7855T>G) c.2442T>G (p.Thr814=) c.2622T>G (p.Thr874=) c.2289T>G (p.Thr763=) | ClinVar |
7 | g.117594971T= | CA1737397750 | CFTR | c.2532T= (p.Thr844=) c.*2246T= (n.*2246T=) c.2349T= (p.Thr783=) c.*832T= (n.*832T=) c.*2356T= (n.*2356T=) c.2106T= (p.Thr702=) c.123T= (p.Thr41=) c.182T= c.1402-7855T= (n.1402-7855T=) c.2442T= (p.Thr814=) c.2622T= (p.Thr874=) c.2289T= (p.Thr763=) | |
7 | g.117594972A>C | CA368983903 | CFTR | c.2533A>C (p.Thr845Pro) c.*2247A>C (n.*2247A>C) c.2350A>C (p.Thr784Pro) c.*833A>C (n.*833A>C) c.*2357A>C (n.*2357A>C) c.2107A>C (p.Thr703Pro) c.124A>C (p.Thr42Pro) c.183A>C c.1402-7854A>C (n.1402-7854A>C) c.2443A>C (p.Thr815Pro) c.2623A>C (p.Thr875Pro) c.2290A>C (p.Thr764Pro) | ClinVar |
7 | g.117594972A>G | CA368983904 | CFTR | c.2533A>G (p.Thr845Ala) c.*2247A>G (n.*2247A>G) c.2350A>G (p.Thr784Ala) c.*833A>G (n.*833A>G) c.*2357A>G (n.*2357A>G) c.2107A>G (p.Thr703Ala) c.124A>G (p.Thr42Ala) c.183A>G c.1402-7854A>G (n.1402-7854A>G) c.2443A>G (p.Thr815Ala) c.2623A>G (p.Thr875Ala) c.2290A>G (p.Thr764Ala) | |
7 | g.117594972A>T | CA368983905 | CFTR | c.2533A>T (p.Thr845Ser) c.*2247A>T (n.*2247A>T) c.2350A>T (p.Thr784Ser) c.*833A>T (n.*833A>T) c.*2357A>T (n.*2357A>T) c.2107A>T (p.Thr703Ser) c.124A>T (p.Thr42Ser) c.183A>T c.1402-7854A>T (n.1402-7854A>T) c.2443A>T (p.Thr815Ser) c.2623A>T (p.Thr875Ser) c.2290A>T (p.Thr764Ser) | |
7 | g.117594973C>A | CA368983906 | CFTR | c.2534C>A (p.Thr845Lys) c.*2248C>A (n.*2248C>A) c.2351C>A (p.Thr784Lys) c.*834C>A (n.*834C>A) c.*2358C>A (n.*2358C>A) c.2108C>A (p.Thr703Lys) c.125C>A (p.Thr42Lys) c.184C>A c.1402-7853C>A (n.1402-7853C>A) c.2444C>A (p.Thr815Lys) c.2624C>A (p.Thr875Lys) c.2291C>A (p.Thr764Lys) | |
7 | g.117594973C>G | CA368983907 | CFTR | c.2534C>G (p.Thr845Arg) c.*2248C>G (n.*2248C>G) c.2351C>G (p.Thr784Arg) c.*834C>G (n.*834C>G) c.*2358C>G (n.*2358C>G) c.2108C>G (p.Thr703Arg) c.125C>G (p.Thr42Arg) c.184C>G c.1402-7853C>G (n.1402-7853C>G) c.2444C>G (p.Thr815Arg) c.2624C>G (p.Thr875Arg) c.2291C>G (p.Thr764Arg) | |
7 | g.117594973C>T | CA368983908 | CFTR | c.2534C>T (p.Thr845Ile) c.*2248C>T (n.*2248C>T) c.2351C>T (p.Thr784Ile) c.*834C>T (n.*834C>T) c.*2358C>T (n.*2358C>T) c.2108C>T (p.Thr703Ile) c.125C>T (p.Thr42Ile) c.184C>T c.1402-7853C>T (n.1402-7853C>T) c.2444C>T (p.Thr815Ile) c.2624C>T (p.Thr875Ile) c.2291C>T (p.Thr764Ile) | gnomAD v4 |
7 | g.117594974A>C | CA457227578 | CFTR | c.2535A>C (p.Thr845=) c.*2249A>C (n.*2249A>C) c.2352A>C (p.Thr784=) c.*835A>C (n.*835A>C) c.*2359A>C (n.*2359A>C) c.2109A>C (p.Thr703=) c.126A>C (p.Thr42=) c.185A>C c.1402-7852A>C (n.1402-7852A>C) c.2445A>C (p.Thr815=) c.2625A>C (p.Thr875=) c.2292A>C (p.Thr764=) | |
7 | g.117594974A>G | CA457227577 | CFTR | c.2535A>G (p.Thr845=) c.*2249A>G (n.*2249A>G) c.2352A>G (p.Thr784=) c.*835A>G (n.*835A>G) c.*2359A>G (n.*2359A>G) c.2109A>G (p.Thr703=) c.126A>G (p.Thr42=) c.185A>G c.1402-7852A>G (n.1402-7852A>G) c.2445A>G (p.Thr815=) c.2625A>G (p.Thr875=) c.2292A>G (p.Thr764=) | |
7 | g.117594974A>T | CA457227579 | CFTR | c.2535A>T (p.Thr845=) c.*2249A>T (n.*2249A>T) c.2352A>T (p.Thr784=) c.*835A>T (n.*835A>T) c.*2359A>T (n.*2359A>T) c.2109A>T (p.Thr703=) c.126A>T (p.Thr42=) c.185A>T c.1402-7852A>T (n.1402-7852A>T) c.2445A>T (p.Thr815=) c.2625A>T (p.Thr875=) c.2292A>T (p.Thr764=) | |
7 | g.117594975T>A | CA368983909 | CFTR | c.2536T>A (p.Trp846Arg) c.*2250T>A (n.*2250T>A) c.2353T>A (p.Trp785Arg) c.*836T>A (n.*836T>A) c.*2360T>A (n.*2360T>A) c.2110T>A (p.Trp704Arg) c.127T>A (p.Trp43Arg) c.186T>A c.1402-7851T>A (n.1402-7851T>A) c.2446T>A (p.Trp816Arg) c.2626T>A (p.Trp876Arg) c.2293T>A (p.Trp765Arg) | |
7 | g.117594975T>C | CA368983911 | CFTR | c.2536T>C (p.Trp846Arg) c.*2250T>C (n.*2250T>C) c.2353T>C (p.Trp785Arg) c.*836T>C (n.*836T>C) c.*2360T>C (n.*2360T>C) c.2110T>C (p.Trp704Arg) c.127T>C (p.Trp43Arg) c.186T>C c.1402-7851T>C (n.1402-7851T>C) c.2446T>C (p.Trp816Arg) c.2626T>C (p.Trp876Arg) c.2293T>C (p.Trp765Arg) | |
7 | g.117594975T>G | CA368983910 | CFTR | c.2536T>G (p.Trp846Gly) c.*2250T>G (n.*2250T>G) c.2353T>G (p.Trp785Gly) c.*836T>G (n.*836T>G) c.*2360T>G (n.*2360T>G) c.2110T>G (p.Trp704Gly) c.127T>G (p.Trp43Gly) c.186T>G c.1402-7851T>G (n.1402-7851T>G) c.2446T>G (p.Trp816Gly) c.2626T>G (p.Trp876Gly) c.2293T>G (p.Trp765Gly) | |
7 | g.117594976G>A | CA328104 | CFTR | c.2537G>A (p.Trp846Ter) c.*2251G>A (n.*2251G>A) c.2354G>A (p.Trp785Ter) c.*837G>A (n.*837G>A) c.*2361G>A (n.*2361G>A) c.2111G>A (p.Trp704Ter) c.128G>A (p.Trp43Ter) c.187G>A c.1402-7850G>A (n.1402-7850G>A) c.2447G>A (p.Trp816Ter) c.2627G>A (p.Trp876Ter) c.2294G>A (p.Trp765Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117594976G>C | CA368983912 | CFTR | c.2537G>C (p.Trp846Ser) c.*2251G>C (n.*2251G>C) c.2354G>C (p.Trp785Ser) c.*837G>C (n.*837G>C) c.*2361G>C (n.*2361G>C) c.2111G>C (p.Trp704Ser) c.128G>C (p.Trp43Ser) c.187G>C c.1402-7850G>C (n.1402-7850G>C) c.2447G>C (p.Trp816Ser) c.2627G>C (p.Trp876Ser) c.2294G>C (p.Trp765Ser) | |
7 | g.117594976G= | CA1737397752 | CFTR | c.2537G= (p.Trp846=) c.*2251G= (n.*2251G=) c.2354G= (p.Trp785=) c.*837G= (n.*837G=) c.*2361G= (n.*2361G=) c.2111G= (p.Trp704=) c.128G= (p.Trp43=) c.187G= c.1402-7850G= (n.1402-7850G=) c.2447G= (p.Trp816=) c.2627G= (p.Trp876=) c.2294G= (p.Trp765=) | |
7 | g.117594976G>T | CA368983913 | CFTR | c.2537G>T (p.Trp846Leu) c.*2251G>T (n.*2251G>T) c.2354G>T (p.Trp785Leu) c.*837G>T (n.*837G>T) c.*2361G>T (n.*2361G>T) c.2111G>T (p.Trp704Leu) c.128G>T (p.Trp43Leu) c.187G>T c.1402-7850G>T (n.1402-7850G>T) c.2447G>T (p.Trp816Leu) c.2627G>T (p.Trp876Leu) c.2294G>T (p.Trp765Leu) | gnomAD v4 |
7 | g.117594977G>A | CA325527 | CFTR | c.2538G>A (p.Trp846Ter) c.*2252G>A (n.*2252G>A) c.2355G>A (p.Trp785Ter) c.*838G>A (n.*838G>A) c.*2362G>A (n.*2362G>A) c.2112G>A (p.Trp704Ter) c.129G>A (p.Trp43Ter) c.188G>A c.1402-7849G>A (n.1402-7849G>A) c.2448G>A (p.Trp816Ter) c.2628G>A (p.Trp876Ter) c.2295G>A (p.Trp765Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117594977G>C | CA368983914 | CFTR | c.2538G>C (p.Trp846Cys) c.*2252G>C (n.*2252G>C) c.2355G>C (p.Trp785Cys) c.*838G>C (n.*838G>C) c.*2362G>C (n.*2362G>C) c.2112G>C (p.Trp704Cys) c.129G>C (p.Trp43Cys) c.188G>C c.1402-7849G>C (n.1402-7849G>C) c.2448G>C (p.Trp816Cys) c.2628G>C (p.Trp876Cys) c.2295G>C (p.Trp765Cys) | |
7 | g.117594977G= | CA1737397758 | CFTR | c.2538G= (p.Trp846=) c.*2252G= (n.*2252G=) c.2355G= (p.Trp785=) c.*838G= (n.*838G=) c.*2362G= (n.*2362G=) c.2112G= (p.Trp704=) c.129G= (p.Trp43=) c.188G= c.1402-7849G= (n.1402-7849G=) c.2448G= (p.Trp816=) c.2628G= (p.Trp876=) c.2295G= (p.Trp765=) | |
7 | g.117594977G>T | CA368983915 | CFTR | c.2538G>T (p.Trp846Cys) c.*2252G>T (n.*2252G>T) c.2355G>T (p.Trp785Cys) c.*838G>T (n.*838G>T) c.*2362G>T (n.*2362G>T) c.2112G>T (p.Trp704Cys) c.129G>T (p.Trp43Cys) c.188G>T c.1402-7849G>T (n.1402-7849G>T) c.2448G>T (p.Trp816Cys) c.2628G>T (p.Trp876Cys) c.2295G>T (p.Trp765Cys) | |
7 | g.117594978A= | CA1737397760 | CFTR | c.2539A= (p.Asn847=) c.*2253A= (n.*2253A=) c.2356A= (p.Asn786=) c.*839A= (n.*839A=) c.*2363A= (n.*2363A=) c.2113A= (p.Asn705=) c.130A= (p.Asn44=) c.189A= c.1402-7848A= (n.1402-7848A=) c.2449A= (p.Asn817=) c.2629A= (p.Asn877=) c.2296A= (p.Asn766=) | |
7 | g.117594978A>C | CA368983916 | CFTR | c.2539A>C (p.Asn847His) c.*2253A>C (n.*2253A>C) c.2356A>C (p.Asn786His) c.*839A>C (n.*839A>C) c.*2363A>C (n.*2363A>C) c.2113A>C (p.Asn705His) c.130A>C (p.Asn44His) c.189A>C c.1402-7848A>C (n.1402-7848A>C) c.2449A>C (p.Asn817His) c.2629A>C (p.Asn877His) c.2296A>C (p.Asn766His) | |
7 | g.117594978A>G | CA368983917 | CFTR | c.2539A>G (p.Asn847Asp) c.*2253A>G (n.*2253A>G) c.2356A>G (p.Asn786Asp) c.*839A>G (n.*839A>G) c.*2363A>G (n.*2363A>G) c.2113A>G (p.Asn705Asp) c.130A>G (p.Asn44Asp) c.189A>G c.1402-7848A>G (n.1402-7848A>G) c.2449A>G (p.Asn817Asp) c.2629A>G (p.Asn877Asp) c.2296A>G (p.Asn766Asp) | dbSNP |
7 | g.117594978A>T | CA368983918 | CFTR | c.2539A>T (p.Asn847Tyr) c.*2253A>T (n.*2253A>T) c.2356A>T (p.Asn786Tyr) c.*839A>T (n.*839A>T) c.*2363A>T (n.*2363A>T) c.2113A>T (p.Asn705Tyr) c.130A>T (p.Asn44Tyr) c.189A>T c.1402-7848A>T (n.1402-7848A>T) c.2449A>T (p.Asn817Tyr) c.2629A>T (p.Asn877Tyr) c.2296A>T (p.Asn766Tyr) | |
7 | g.117594979A= | CA1737397763 | CFTR | c.2540A= (p.Asn847=) c.*2254A= (n.*2254A=) c.2357A= (p.Asn786=) c.*840A= (n.*840A=) c.*2364A= (n.*2364A=) c.2114A= (p.Asn705=) c.131A= (p.Asn44=) c.190A= c.1402-7847A= (n.1402-7847A=) c.2450A= (p.Asn817=) c.2630A= (p.Asn877=) c.2297A= (p.Asn766=) | |
7 | g.117594979A>C | CA368983919 | CFTR | c.2540A>C (p.Asn847Thr) c.*2254A>C (n.*2254A>C) c.2357A>C (p.Asn786Thr) c.*840A>C (n.*840A>C) c.*2364A>C (n.*2364A>C) c.2114A>C (p.Asn705Thr) c.131A>C (p.Asn44Thr) c.190A>C c.1402-7847A>C (n.1402-7847A>C) c.2450A>C (p.Asn817Thr) c.2630A>C (p.Asn877Thr) c.2297A>C (p.Asn766Thr) | |
7 | g.117594979A>G | CA4451218 | CFTR | c.2540A>G (p.Asn847Ser) c.*2254A>G (n.*2254A>G) c.2357A>G (p.Asn786Ser) c.*840A>G (n.*840A>G) c.*2364A>G (n.*2364A>G) c.2114A>G (p.Asn705Ser) c.131A>G (p.Asn44Ser) c.190A>G c.1402-7847A>G (n.1402-7847A>G) c.2450A>G (p.Asn817Ser) c.2630A>G (p.Asn877Ser) c.2297A>G (p.Asn766Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594979A>T | CA368983920 | CFTR | c.2540A>T (p.Asn847Ile) c.*2254A>T (n.*2254A>T) c.2357A>T (p.Asn786Ile) c.*840A>T (n.*840A>T) c.*2364A>T (n.*2364A>T) c.2114A>T (p.Asn705Ile) c.131A>T (p.Asn44Ile) c.190A>T c.1402-7847A>T (n.1402-7847A>T) c.2450A>T (p.Asn817Ile) c.2630A>T (p.Asn877Ile) c.2297A>T (p.Asn766Ile) | |
7 | g.117594980C>A | CA368983921 | CFTR | c.2541C>A (p.Asn847Lys) c.*2255C>A (n.*2255C>A) c.2358C>A (p.Asn786Lys) c.*841C>A (n.*841C>A) c.*2365C>A (n.*2365C>A) c.2115C>A (p.Asn705Lys) c.132C>A (p.Asn44Lys) c.191C>A c.1402-7846C>A (n.1402-7846C>A) c.2451C>A (p.Asn817Lys) c.2631C>A (p.Asn877Lys) c.2298C>A (p.Asn766Lys) | gnomAD v4 |
7 | g.117594980C>G | CA368983922 | CFTR | c.2541C>G (p.Asn847Lys) c.*2255C>G (n.*2255C>G) c.2358C>G (p.Asn786Lys) c.*841C>G (n.*841C>G) c.*2365C>G (n.*2365C>G) c.2115C>G (p.Asn705Lys) c.132C>G (p.Asn44Lys) c.191C>G c.1402-7846C>G (n.1402-7846C>G) c.2451C>G (p.Asn817Lys) c.2631C>G (p.Asn877Lys) c.2298C>G (p.Asn766Lys) | |
7 | g.117594980C>T | CA457227580 | CFTR | c.2541C>T (p.Asn847=) c.*2255C>T (n.*2255C>T) c.2358C>T (p.Asn786=) c.*841C>T (n.*841C>T) c.*2365C>T (n.*2365C>T) c.2115C>T (p.Asn705=) c.132C>T (p.Asn44=) c.191C>T c.1402-7846C>T (n.1402-7846C>T) c.2451C>T (p.Asn817=) c.2631C>T (p.Asn877=) c.2298C>T (p.Asn766=) | |
7 | g.117594981A>C | CA368983923 | CFTR | c.2542A>C (p.Thr848Pro) c.*2256A>C (n.*2256A>C) c.2359A>C (p.Thr787Pro) c.*842A>C (n.*842A>C) c.*2366A>C (n.*2366A>C) c.2116A>C (p.Thr706Pro) c.133A>C (p.Thr45Pro) c.192A>C c.1402-7845A>C (n.1402-7845A>C) c.2452A>C (p.Thr818Pro) c.2632A>C (p.Thr878Pro) c.2299A>C (p.Thr767Pro) | |
7 | g.117594981A>G | CA368983925 | CFTR | c.2542A>G (p.Thr848Ala) c.*2256A>G (n.*2256A>G) c.2359A>G (p.Thr787Ala) c.*842A>G (n.*842A>G) c.*2366A>G (n.*2366A>G) c.2116A>G (p.Thr706Ala) c.133A>G (p.Thr45Ala) c.192A>G c.1402-7845A>G (n.1402-7845A>G) c.2452A>G (p.Thr818Ala) c.2632A>G (p.Thr878Ala) c.2299A>G (p.Thr767Ala) | |
7 | g.117594981A>T | CA368983924 | CFTR | c.2542A>T (p.Thr848Ser) c.*2256A>T (n.*2256A>T) c.2359A>T (p.Thr787Ser) c.*842A>T (n.*842A>T) c.*2366A>T (n.*2366A>T) c.2116A>T (p.Thr706Ser) c.133A>T (p.Thr45Ser) c.192A>T c.1402-7845A>T (n.1402-7845A>T) c.2452A>T (p.Thr818Ser) c.2632A>T (p.Thr878Ser) c.2299A>T (p.Thr767Ser) | |
7 | g.117594982C>A | CA368983926 | CFTR | c.2543C>A (p.Thr848Lys) c.*2257C>A (n.*2257C>A) c.2360C>A (p.Thr787Lys) c.*843C>A (n.*843C>A) c.*2367C>A (n.*2367C>A) c.2117C>A (p.Thr706Lys) c.134C>A (p.Thr45Lys) c.193C>A c.1402-7844C>A (n.1402-7844C>A) c.2453C>A (p.Thr818Lys) c.2633C>A (p.Thr878Lys) c.2300C>A (p.Thr767Lys) | |
7 | g.117594982C>G | CA368983928 | CFTR | c.2543C>G (p.Thr848Arg) c.*2257C>G (n.*2257C>G) c.2360C>G (p.Thr787Arg) c.*843C>G (n.*843C>G) c.*2367C>G (n.*2367C>G) c.2117C>G (p.Thr706Arg) c.134C>G (p.Thr45Arg) c.193C>G c.1402-7844C>G (n.1402-7844C>G) c.2453C>G (p.Thr818Arg) c.2633C>G (p.Thr878Arg) c.2300C>G (p.Thr767Arg) | ClinVar |
7 | g.117594982C>T | CA368983927 | CFTR | c.2543C>T (p.Thr848Ile) c.*2257C>T (n.*2257C>T) c.2360C>T (p.Thr787Ile) c.*843C>T (n.*843C>T) c.*2367C>T (n.*2367C>T) c.2117C>T (p.Thr706Ile) c.134C>T (p.Thr45Ile) c.193C>T c.1402-7844C>T (n.1402-7844C>T) c.2453C>T (p.Thr818Ile) c.2633C>T (p.Thr878Ile) c.2300C>T (p.Thr767Ile) | |
7 | g.117594982_117594983insTGTATACCTTCGTAAT | CA2684619532 | CFTR | c.2543_2544insTGTATACCTTCGTAAT (p.Tyr849ValfsTer?) c.*2257_*2258insTGTATACCTTCGTAAT (n.*2257_*2258insTGTATACCTTCGTAAT) c.2360_2361insTGTATACCTTCGTAAT (p.Tyr788ValfsTer?) c.*843_*844insTGTATACCTTCGTAAT (n.*843_*844insTGTATACCTTCGTAAT) c.*2367_*2368insTGTATACCTTCGTAAT (n.*2367_*2368insTGTATACCTTCGTAAT) c.2117_2118insTGTATACCTTCGTAAT (p.Tyr707ValfsTer?) c.134_135insTGTATACCTTCGTAAT (p.Tyr46ValfsTer?) c.193_194insTGTATACCTTCGTAAT c.1402-7844_1402-7843insTGTATACCTTCGTAAT (n.1402-7844_1402-7843insTGTATACCTTCGTAAT) c.2453_2454insTGTATACCTTCGTAAT (p.Tyr819ValfsTer?) c.2633_2634insTGTATACCTTCGTAAT (p.Tyr879ValfsTer?) c.2300_2301insTGTATACCTTCGTAAT (p.Tyr768ValfsTer?) | gnomAD v4 |
7 | g.117594983A= | CA1737397771 | CFTR | c.2544A= (p.Thr848=) c.*2258A= (n.*2258A=) c.2361A= (p.Thr787=) c.*844A= (n.*844A=) c.*2368A= (n.*2368A=) c.2118A= (p.Thr706=) c.135A= (p.Thr45=) c.194A= c.1402-7843A= (n.1402-7843A=) c.2454A= (p.Thr818=) c.2634A= (p.Thr878=) c.2301A= (p.Thr767=) | |
7 | g.117594983A>C | CA457227581 | CFTR | c.2544A>C (p.Thr848=) c.*2258A>C (n.*2258A>C) c.2361A>C (p.Thr787=) c.*844A>C (n.*844A>C) c.*2368A>C (n.*2368A>C) c.2118A>C (p.Thr706=) c.135A>C (p.Thr45=) c.194A>C c.1402-7843A>C (n.1402-7843A>C) c.2454A>C (p.Thr818=) c.2634A>C (p.Thr878=) c.2301A>C (p.Thr767=) | |
7 | g.117594983A>G | CA457227582 | CFTR | c.2544A>G (p.Thr848=) c.*2258A>G (n.*2258A>G) c.2361A>G (p.Thr787=) c.*844A>G (n.*844A>G) c.*2368A>G (n.*2368A>G) c.2118A>G (p.Thr706=) c.135A>G (p.Thr45=) c.194A>G c.1402-7843A>G (n.1402-7843A>G) c.2454A>G (p.Thr818=) c.2634A>G (p.Thr878=) c.2301A>G (p.Thr767=) | |
7 | g.117594983A>T | CA4451219 | CFTR | c.2544A>T (p.Thr848=) c.*2258A>T (n.*2258A>T) c.2361A>T (p.Thr787=) c.*844A>T (n.*844A>T) c.*2368A>T (n.*2368A>T) c.2118A>T (p.Thr706=) c.135A>T (p.Thr45=) c.194A>T c.1402-7843A>T (n.1402-7843A>T) c.2454A>T (p.Thr818=) c.2634A>T (p.Thr878=) c.2301A>T (p.Thr767=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117594984T>A | CA368983929 | CFTR | c.2545T>A (p.Tyr849Asn) c.*2259T>A (n.*2259T>A) c.2362T>A (p.Tyr788Asn) c.*845T>A (n.*845T>A) c.*2369T>A (n.*2369T>A) c.2119T>A (p.Tyr707Asn) c.136T>A (p.Tyr46Asn) c.195T>A c.1402-7842T>A (n.1402-7842T>A) c.2455T>A (p.Tyr819Asn) c.2635T>A (p.Tyr879Asn) c.2302T>A (p.Tyr768Asn) | ClinVar dbSNP |
7 | g.117594984T>C | CA4451220 | CFTR | c.2545T>C (p.Tyr849His) c.*2259T>C (n.*2259T>C) c.2362T>C (p.Tyr788His) c.*845T>C (n.*845T>C) c.*2369T>C (n.*2369T>C) c.2119T>C (p.Tyr707His) c.136T>C (p.Tyr46His) c.195T>C c.1402-7842T>C (n.1402-7842T>C) c.2455T>C (p.Tyr819His) c.2635T>C (p.Tyr879His) c.2302T>C (p.Tyr768His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594984T>G | CA368983930 | CFTR | c.2545T>G (p.Tyr849Asp) c.*2259T>G (n.*2259T>G) c.2362T>G (p.Tyr788Asp) c.*845T>G (n.*845T>G) c.*2369T>G (n.*2369T>G) c.2119T>G (p.Tyr707Asp) c.136T>G (p.Tyr46Asp) c.195T>G c.1402-7842T>G (n.1402-7842T>G) c.2455T>G (p.Tyr819Asp) c.2635T>G (p.Tyr879Asp) c.2302T>G (p.Tyr768Asp) | |
7 | g.117594984T= | CA1737397777 | CFTR | c.2545T= (p.Tyr849=) c.*2259T= (n.*2259T=) c.2362T= (p.Tyr788=) c.*845T= (n.*845T=) c.*2369T= (n.*2369T=) c.2119T= (p.Tyr707=) c.136T= (p.Tyr46=) c.195T= c.1402-7842T= (n.1402-7842T=) c.2455T= (p.Tyr819=) c.2635T= (p.Tyr879=) c.2302T= (p.Tyr768=) | |
7 | g.117594985A= | CA1737397780 | CFTR | c.2546A= (p.Tyr849=) c.*2260A= (n.*2260A=) c.2363A= (p.Tyr788=) c.*846A= (n.*846A=) c.*2370A= (n.*2370A=) c.2120A= (p.Tyr707=) c.137A= (p.Tyr46=) c.196A= c.1402-7841A= (n.1402-7841A=) c.2456A= (p.Tyr819=) c.2636A= (p.Tyr879=) c.2303A= (p.Tyr768=) | |
7 | g.117594985A>C | CA368983931 | CFTR | c.2546A>C (p.Tyr849Ser) c.*2260A>C (n.*2260A>C) c.2363A>C (p.Tyr788Ser) c.*846A>C (n.*846A>C) c.*2370A>C (n.*2370A>C) c.2120A>C (p.Tyr707Ser) c.137A>C (p.Tyr46Ser) c.196A>C c.1402-7841A>C (n.1402-7841A>C) c.2456A>C (p.Tyr819Ser) c.2636A>C (p.Tyr879Ser) c.2303A>C (p.Tyr768Ser) | |
7 | g.117594985A>G | CA4451221 | CFTR | c.2546A>G (p.Tyr849Cys) c.*2260A>G (n.*2260A>G) c.2363A>G (p.Tyr788Cys) c.*846A>G (n.*846A>G) c.*2370A>G (n.*2370A>G) c.2120A>G (p.Tyr707Cys) c.137A>G (p.Tyr46Cys) c.196A>G c.1402-7841A>G (n.1402-7841A>G) c.2456A>G (p.Tyr819Cys) c.2636A>G (p.Tyr879Cys) c.2303A>G (p.Tyr768Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117594985A>T | CA368983932 | CFTR | c.2546A>T (p.Tyr849Phe) c.*2260A>T (n.*2260A>T) c.2363A>T (p.Tyr788Phe) c.*846A>T (n.*846A>T) c.*2370A>T (n.*2370A>T) c.2120A>T (p.Tyr707Phe) c.137A>T (p.Tyr46Phe) c.196A>T c.1402-7841A>T (n.1402-7841A>T) c.2456A>T (p.Tyr819Phe) c.2636A>T (p.Tyr879Phe) c.2303A>T (p.Tyr768Phe) | |
7 | g.117594986C>A | CA326841 | CFTR | c.2547C>A (p.Tyr849Ter) c.*2261C>A (n.*2261C>A) c.2364C>A (p.Tyr788Ter) c.*847C>A (n.*847C>A) c.*2371C>A (n.*2371C>A) c.2121C>A (p.Tyr707Ter) c.138C>A (p.Tyr46Ter) c.197C>A c.1402-7840C>A (n.1402-7840C>A) c.2457C>A (p.Tyr819Ter) c.2637C>A (p.Tyr879Ter) c.2304C>A (p.Tyr768Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117594986C= | CA1737397785 | CFTR | c.2547C= (p.Tyr849=) c.*2261C= (n.*2261C=) c.2364C= (p.Tyr788=) c.*847C= (n.*847C=) c.*2371C= (n.*2371C=) c.2121C= (p.Tyr707=) c.138C= (p.Tyr46=) c.197C= c.1402-7840C= (n.1402-7840C=) c.2457C= (p.Tyr819=) c.2637C= (p.Tyr879=) c.2304C= (p.Tyr768=) | |
7 | g.117594986C>G | CA368983933 | CFTR | c.2547C>G (p.Tyr849Ter) c.*2261C>G (n.*2261C>G) c.2364C>G (p.Tyr788Ter) c.*847C>G (n.*847C>G) c.*2371C>G (n.*2371C>G) c.2121C>G (p.Tyr707Ter) c.138C>G (p.Tyr46Ter) c.197C>G c.1402-7840C>G (n.1402-7840C>G) c.2457C>G (p.Tyr819Ter) c.2637C>G (p.Tyr879Ter) c.2304C>G (p.Tyr768Ter) | |
7 | g.117594986C>T | CA457227583 | CFTR | c.2547C>T (p.Tyr849=) c.*2261C>T (n.*2261C>T) c.2364C>T (p.Tyr788=) c.*847C>T (n.*847C>T) c.*2371C>T (n.*2371C>T) c.2121C>T (p.Tyr707=) c.138C>T (p.Tyr46=) c.197C>T c.1402-7840C>T (n.1402-7840C>T) c.2457C>T (p.Tyr819=) c.2637C>T (p.Tyr879=) c.2304C>T (p.Tyr768=) | ClinVar dbSNP gnomAD v4 |
7 | g.117594987C>A | CA368983934 | CFTR | c.2548C>A (p.Leu850Ile) c.*2262C>A (n.*2262C>A) c.2365C>A (p.Leu789Ile) c.*848C>A (n.*848C>A) c.*2372C>A (n.*2372C>A) c.2122C>A (p.Leu708Ile) c.139C>A (p.Leu47Ile) c.198C>A c.1402-7839C>A (n.1402-7839C>A) c.2458C>A (p.Leu820Ile) c.2638C>A (p.Leu880Ile) c.2305C>A (p.Leu769Ile) | |
7 | g.117594987C>G | CA368983935 | CFTR | c.2548C>G (p.Leu850Val) c.*2262C>G (n.*2262C>G) c.2365C>G (p.Leu789Val) c.*848C>G (n.*848C>G) c.*2372C>G (n.*2372C>G) c.2122C>G (p.Leu708Val) c.139C>G (p.Leu47Val) c.198C>G c.1402-7839C>G (n.1402-7839C>G) c.2458C>G (p.Leu820Val) c.2638C>G (p.Leu880Val) c.2305C>G (p.Leu769Val) | |
7 | g.117594987C>T | CA368983936 | CFTR | c.2548C>T (p.Leu850Phe) c.*2262C>T (n.*2262C>T) c.2365C>T (p.Leu789Phe) c.*848C>T (n.*848C>T) c.*2372C>T (n.*2372C>T) c.2122C>T (p.Leu708Phe) c.139C>T (p.Leu47Phe) c.198C>T c.1402-7839C>T (n.1402-7839C>T) c.2458C>T (p.Leu820Phe) c.2638C>T (p.Leu880Phe) c.2305C>T (p.Leu769Phe) | gnomAD v3 gnomAD v4 COSMIC |
7 | g.117594988T>A | CA368983937 | CFTR | c.2549T>A (p.Leu850His) c.*2263T>A (n.*2263T>A) c.2366T>A (p.Leu789His) c.*849T>A (n.*849T>A) c.*2373T>A (n.*2373T>A) c.2123T>A (p.Leu708His) c.140T>A (p.Leu47His) c.199T>A c.1402-7838T>A (n.1402-7838T>A) c.2459T>A (p.Leu820His) c.2639T>A (p.Leu880His) c.2306T>A (p.Leu769His) | |
7 | g.117594988T>C | CA368983938 | CFTR | c.2549T>C (p.Leu850Pro) c.*2263T>C (n.*2263T>C) c.2366T>C (p.Leu789Pro) c.*849T>C (n.*849T>C) c.*2373T>C (n.*2373T>C) c.2123T>C (p.Leu708Pro) c.140T>C (p.Leu47Pro) c.199T>C c.1402-7838T>C (n.1402-7838T>C) c.2459T>C (p.Leu820Pro) c.2639T>C (p.Leu880Pro) c.2306T>C (p.Leu769Pro) | |
7 | g.117594988T>G | CA368983939 | CFTR | c.2549T>G (p.Leu850Arg) c.*2263T>G (n.*2263T>G) c.2366T>G (p.Leu789Arg) c.*849T>G (n.*849T>G) c.*2373T>G (n.*2373T>G) c.2123T>G (p.Leu708Arg) c.140T>G (p.Leu47Arg) c.199T>G c.1402-7838T>G (n.1402-7838T>G) c.2459T>G (p.Leu820Arg) c.2639T>G (p.Leu880Arg) c.2306T>G (p.Leu769Arg) | ClinVar gnomAD v4 |
7 | g.117594989T>A | CA457227584 | CFTR | c.2550T>A (p.Leu850=) c.*2264T>A (n.*2264T>A) c.2367T>A (p.Leu789=) c.*850T>A (n.*850T>A) c.*2374T>A (n.*2374T>A) c.2124T>A (p.Leu708=) c.141T>A (p.Leu47=) c.200T>A c.1402-7837T>A (n.1402-7837T>A) c.2460T>A (p.Leu820=) c.2640T>A (p.Leu880=) c.2307T>A (p.Leu769=) | |
7 | g.117594989T>C | CA457227585 | CFTR | c.2550T>C (p.Leu850=) c.*2264T>C (n.*2264T>C) c.2367T>C (p.Leu789=) c.*850T>C (n.*850T>C) c.*2374T>C (n.*2374T>C) c.2124T>C (p.Leu708=) c.141T>C (p.Leu47=) c.200T>C c.1402-7837T>C (n.1402-7837T>C) c.2460T>C (p.Leu820=) c.2640T>C (p.Leu880=) c.2307T>C (p.Leu769=) | |
7 | g.117594989T>G | CA457227586 | CFTR | c.2550T>G (p.Leu850=) c.*2264T>G (n.*2264T>G) c.2367T>G (p.Leu789=) c.*850T>G (n.*850T>G) c.*2374T>G (n.*2374T>G) c.2124T>G (p.Leu708=) c.141T>G (p.Leu47=) c.200T>G c.1402-7837T>G (n.1402-7837T>G) c.2460T>G (p.Leu820=) c.2640T>G (p.Leu880=) c.2307T>G (p.Leu769=) | |
7 | g.117594990C>A | CA457227587 | CFTR | c.2551C>A (p.Arg851=) c.*2265C>A (n.*2265C>A) c.2368C>A (p.Arg790=) c.*851C>A (n.*851C>A) c.*2375C>A (n.*2375C>A) c.2125C>A (p.Arg709=) c.142C>A (p.Arg48=) c.201C>A c.1402-7836C>A (n.1402-7836C>A) c.2461C>A (p.Arg821=) c.2641C>A (p.Arg881=) c.2308C>A (p.Arg770=) | gnomAD v4 |
7 | g.117594990C= | CA1737397791 | CFTR | c.2551C= (p.Arg851=) c.*2265C= (n.*2265C=) c.2368C= (p.Arg790=) c.*851C= (n.*851C=) c.*2375C= (n.*2375C=) c.2125C= (p.Arg709=) c.142C= (p.Arg48=) c.201C= c.1402-7836C= (n.1402-7836C=) c.2461C= (p.Arg821=) c.2641C= (p.Arg881=) c.2308C= (p.Arg770=) | |
7 | g.117594990C>G | CA368983940 | CFTR | c.2551C>G (p.Arg851Gly) c.*2265C>G (n.*2265C>G) c.2368C>G (p.Arg790Gly) c.*851C>G (n.*851C>G) c.*2375C>G (n.*2375C>G) c.2125C>G (p.Arg709Gly) c.142C>G (p.Arg48Gly) c.201C>G c.1402-7836C>G (n.1402-7836C>G) c.2461C>G (p.Arg821Gly) c.2641C>G (p.Arg881Gly) c.2308C>G (p.Arg770Gly) | |
7 | g.117594990C>T | CA340645 | CFTR | c.2551C>T (p.Arg851Ter) c.*2265C>T (n.*2265C>T) c.2368C>T (p.Arg790Ter) c.*851C>T (n.*851C>T) c.*2375C>T (n.*2375C>T) c.2125C>T (p.Arg709Ter) c.142C>T (p.Arg48Ter) c.201C>T c.1402-7836C>T (n.1402-7836C>T) c.2461C>T (p.Arg821Ter) c.2641C>T (p.Arg881Ter) c.2308C>T (p.Arg770Ter) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.117594991G>A | CA4451222 | CFTR | c.2552G>A (p.Arg851Gln) c.*2266G>A (n.*2266G>A) c.2369G>A (p.Arg790Gln) c.*852G>A (n.*852G>A) c.*2376G>A (n.*2376G>A) c.2126G>A (p.Arg709Gln) c.143G>A (p.Arg48Gln) c.202G>A c.1402-7835G>A (n.1402-7835G>A) c.2462G>A (p.Arg821Gln) c.2642G>A (p.Arg881Gln) c.2309G>A (p.Arg770Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117594991G>C | CA368983941 | CFTR | c.2552G>C (p.Arg851Pro) c.*2266G>C (n.*2266G>C) c.2369G>C (p.Arg790Pro) c.*852G>C (n.*852G>C) c.*2376G>C (n.*2376G>C) c.2126G>C (p.Arg709Pro) c.143G>C (p.Arg48Pro) c.202G>C c.1402-7835G>C (n.1402-7835G>C) c.2462G>C (p.Arg821Pro) c.2642G>C (p.Arg881Pro) c.2309G>C (p.Arg770Pro) | |
7 | g.117594991G= | CA1737397799 | CFTR | c.2552G= (p.Arg851=) c.*2266G= (n.*2266G=) c.2369G= (p.Arg790=) c.*852G= (n.*852G=) c.*2376G= (n.*2376G=) c.2126G= (p.Arg709=) c.143G= (p.Arg48=) c.202G= c.1402-7835G= (n.1402-7835G=) c.2462G= (p.Arg821=) c.2642G= (p.Arg881=) c.2309G= (p.Arg770=) | |
7 | g.117594991G>T | CA326845 | CFTR | c.2552G>T (p.Arg851Leu) c.*2266G>T (n.*2266G>T) c.2369G>T (p.Arg790Leu) c.*852G>T (n.*852G>T) c.*2376G>T (n.*2376G>T) c.2126G>T (p.Arg709Leu) c.143G>T (p.Arg48Leu) c.202G>T c.1402-7835G>T (n.1402-7835G>T) c.2462G>T (p.Arg821Leu) c.2642G>T (p.Arg881Leu) c.2309G>T (p.Arg770Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117594992A= | CA1737397806 | CFTR | c.2553A= (p.Arg851=) c.*2267A= (n.*2267A=) c.2370A= (p.Arg790=) c.*853A= (n.*853A=) c.*2377A= (n.*2377A=) c.2127A= (p.Arg709=) c.144A= (p.Arg48=) c.203A= c.1402-7834A= (n.1402-7834A=) c.2463A= (p.Arg821=) c.2643A= (p.Arg881=) c.2310A= (p.Arg770=) | |
7 | g.117594992A>C | CA457227589 | CFTR | c.2553A>C (p.Arg851=) c.*2267A>C (n.*2267A>C) c.2370A>C (p.Arg790=) c.*853A>C (n.*853A>C) c.*2377A>C (n.*2377A>C) c.2127A>C (p.Arg709=) c.144A>C (p.Arg48=) c.203A>C c.1402-7834A>C (n.1402-7834A>C) c.2463A>C (p.Arg821=) c.2643A>C (p.Arg881=) c.2310A>C (p.Arg770=) | |
7 | g.117594992A>G | CA457227590 | CFTR | c.2553A>G (p.Arg851=) c.*2267A>G (n.*2267A>G) c.2370A>G (p.Arg790=) c.*853A>G (n.*853A>G) c.*2377A>G (n.*2377A>G) c.2127A>G (p.Arg709=) c.144A>G (p.Arg48=) c.203A>G c.1402-7834A>G (n.1402-7834A>G) c.2463A>G (p.Arg821=) c.2643A>G (p.Arg881=) c.2310A>G (p.Arg770=) | |
7 | g.117594992A>T | CA457227591 | CFTR | c.2553A>T (p.Arg851=) c.*2267A>T (n.*2267A>T) c.2370A>T (p.Arg790=) c.*853A>T (n.*853A>T) c.*2377A>T (n.*2377A>T) c.2127A>T (p.Arg709=) c.144A>T (p.Arg48=) c.203A>T c.1402-7834A>T (n.1402-7834A>T) c.2463A>T (p.Arg821=) c.2643A>T (p.Arg881=) c.2310A>T (p.Arg770=) | |
7 | g.117594993T>A | CA368983942 | CFTR | c.2554T>A (p.Tyr852Asn) c.*2268T>A (n.*2268T>A) c.2371T>A (p.Tyr791Asn) c.*854T>A (n.*854T>A) c.*2378T>A (n.*2378T>A) c.2128T>A (p.Tyr710Asn) c.145T>A (p.Tyr49Asn) c.204T>A c.1402-7833T>A (n.1402-7833T>A) c.2464T>A (p.Tyr822Asn) c.2644T>A (p.Tyr882Asn) c.2311T>A (p.Tyr771Asn) | |
7 | g.117594993T>C | CA368983943 | CFTR | c.2554T>C (p.Tyr852His) c.*2268T>C (n.*2268T>C) c.2371T>C (p.Tyr791His) c.*854T>C (n.*854T>C) c.*2378T>C (n.*2378T>C) c.2128T>C (p.Tyr710His) c.145T>C (p.Tyr49His) c.204T>C c.1402-7833T>C (n.1402-7833T>C) c.2464T>C (p.Tyr822His) c.2644T>C (p.Tyr882His) c.2311T>C (p.Tyr771His) | |
7 | g.117594993T>G | CA368983944 | CFTR | c.2554T>G (p.Tyr852Asp) c.*2268T>G (n.*2268T>G) c.2371T>G (p.Tyr791Asp) c.*854T>G (n.*854T>G) c.*2378T>G (n.*2378T>G) c.2128T>G (p.Tyr710Asp) c.145T>G (p.Tyr49Asp) c.204T>G c.1402-7833T>G (n.1402-7833T>G) c.2464T>G (p.Tyr822Asp) c.2644T>G (p.Tyr882Asp) c.2311T>G (p.Tyr771Asp) | |
7 | g.117594993dup | CA16041133 | CFTR | c.2554dup (p.Tyr852LeufsTer?) c.*2268dup (n.*2268dup) c.2371dup (p.Tyr791LeufsTer?) c.*854dup (n.*854dup) c.*2378dup (n.*2378dup) c.2128dup (p.Tyr710LeufsTer?) c.145dup (p.Tyr49LeufsTer?) c.204dup c.1402-7833dup (n.1402-7833dup) c.2464dup (p.Tyr822LeufsTer?) c.2644dup (p.Tyr882LeufsTer?) c.2311dup (p.Tyr771LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117594994del | CA2580076590 | CFTR | c.2555del (p.Tyr852LeufsTer8) c.*2269del (n.*2269del) c.2372del (p.Tyr791LeufsTer8) c.*855del (n.*855del) c.*2379del (n.*2379del) c.2129del (p.Tyr710LeufsTer8) c.146del (p.Tyr49LeufsTer8) c.205del c.1402-7832del (n.1402-7832del) c.2465del (p.Tyr822LeufsTer8) c.2645del (p.Tyr882LeufsTer8) c.2312del (p.Tyr771LeufsTer8) | ClinVar |
7 | g.117594994A>C | CA368983945 | CFTR | c.2555A>C (p.Tyr852Ser) c.*2269A>C (n.*2269A>C) c.2372A>C (p.Tyr791Ser) c.*855A>C (n.*855A>C) c.*2379A>C (n.*2379A>C) c.2129A>C (p.Tyr710Ser) c.146A>C (p.Tyr49Ser) c.205A>C c.1402-7832A>C (n.1402-7832A>C) c.2465A>C (p.Tyr822Ser) c.2645A>C (p.Tyr882Ser) c.2312A>C (p.Tyr771Ser) | |
7 | g.117594994A>G | CA368983946 | CFTR | c.2555A>G (p.Tyr852Cys) c.*2269A>G (n.*2269A>G) c.2372A>G (p.Tyr791Cys) c.*855A>G (n.*855A>G) c.*2379A>G (n.*2379A>G) c.2129A>G (p.Tyr710Cys) c.146A>G (p.Tyr49Cys) c.205A>G c.1402-7832A>G (n.1402-7832A>G) c.2465A>G (p.Tyr822Cys) c.2645A>G (p.Tyr882Cys) c.2312A>G (p.Tyr771Cys) | |
7 | g.117594994A>T | CA368983947 | CFTR | c.2555A>T (p.Tyr852Phe) c.*2269A>T (n.*2269A>T) c.2372A>T (p.Tyr791Phe) c.*855A>T (n.*855A>T) c.*2379A>T (n.*2379A>T) c.2129A>T (p.Tyr710Phe) c.146A>T (p.Tyr49Phe) c.205A>T c.1402-7832A>T (n.1402-7832A>T) c.2465A>T (p.Tyr822Phe) c.2645A>T (p.Tyr882Phe) c.2312A>T (p.Tyr771Phe) | |
7 | g.117594995T>A | CA368983948 | CFTR | c.2556T>A (p.Tyr852Ter) c.*2270T>A (n.*2270T>A) c.2373T>A (p.Tyr791Ter) c.*856T>A (n.*856T>A) c.*2380T>A (n.*2380T>A) c.2130T>A (p.Tyr710Ter) c.147T>A (p.Tyr49Ter) c.206T>A c.1402-7831T>A (n.1402-7831T>A) c.2466T>A (p.Tyr822Ter) c.2646T>A (p.Tyr882Ter) c.2313T>A (p.Tyr771Ter) | |
7 | g.117594995T>C | CA457227594 | CFTR | c.2556T>C (p.Tyr852=) c.*2270T>C (n.*2270T>C) c.2373T>C (p.Tyr791=) c.*856T>C (n.*856T>C) c.*2380T>C (n.*2380T>C) c.2130T>C (p.Tyr710=) c.147T>C (p.Tyr49=) c.206T>C c.1402-7831T>C (n.1402-7831T>C) c.2466T>C (p.Tyr822=) c.2646T>C (p.Tyr882=) c.2313T>C (p.Tyr771=) | ClinVar gnomAD v4 |
7 | g.117594995T>G | CA368983949 | CFTR | c.2556T>G (p.Tyr852Ter) c.*2270T>G (n.*2270T>G) c.2373T>G (p.Tyr791Ter) c.*856T>G (n.*856T>G) c.*2380T>G (n.*2380T>G) c.2130T>G (p.Tyr710Ter) c.147T>G (p.Tyr49Ter) c.206T>G c.1402-7831T>G (n.1402-7831T>G) c.2466T>G (p.Tyr822Ter) c.2646T>G (p.Tyr882Ter) c.2313T>G (p.Tyr771Ter) | ClinVar dbSNP |
7 | g.117594995T= | CA1737397813 | CFTR | c.2556T= (p.Tyr852=) c.*2270T= (n.*2270T=) c.2373T= (p.Tyr791=) c.*856T= (n.*856T=) c.*2380T= (n.*2380T=) c.2130T= (p.Tyr710=) c.147T= (p.Tyr49=) c.206T= c.1402-7831T= (n.1402-7831T=) c.2466T= (p.Tyr822=) c.2646T= (p.Tyr882=) c.2313T= (p.Tyr771=) |