UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.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.117592537_117592543delinsCACACGA | CA1737395339 | CFTR | c.2370_2376delinsCACACGA (p.Ser790=) c.*2084_*2090delinsCACACGA (n.*2084_*2090delinsCACACGA) c.2187_2193delinsCACACGA (p.Ser729=) c.*670_*676delinsCACACGA (n.*670_*676delinsCACACGA) c.*2194_*2200delinsCACACGA (n.*2194_*2200delinsCACACGA) c.1944_1950delinsCACACGA (p.Ser648=) c.20_26delinsCACACGA c.1402-10289_1402-10283delinsCACACGA (n.1402-10289_1402-10283delinsCACACGA) c.2280_2286delinsCACACGA (p.Ser760=) c.2460_2466delinsCACACGA (p.Ser820=) c.2127_2133delinsCACACGA (p.Ser709=) | |
| 7 | g.117592539_117592544del | CA913190195 | CFTR | c.2372_2377del (p.Thr791_Arg792del) c.*2086_*2091del (n.*2086_*2091del) c.2189_2194del (p.Thr730_Arg731del) c.*672_*677del (n.*672_*677del) c.*2196_*2201del (n.*2196_*2201del) c.1946_1951del (p.Thr649_Arg650del) c.22_27del c.1402-10287_1402-10282del (n.1402-10287_1402-10282del) c.2282_2287del (p.Thr761_Arg762del) c.2462_2467del (p.Thr821_Arg822del) c.2129_2134del (p.Thr710_Arg711del) | ClinVar dbSNP |
| 7 | g.117592539C>A | CA368981077 | CFTR | c.2372C>A (p.Thr791Lys) c.*2086C>A (n.*2086C>A) c.2189C>A (p.Thr730Lys) c.*672C>A (n.*672C>A) c.*2196C>A (n.*2196C>A) c.1946C>A (p.Thr649Lys) c.22C>A c.1402-10287C>A (n.1402-10287C>A) c.2282C>A (p.Thr761Lys) c.2462C>A (p.Thr821Lys) c.2129C>A (p.Thr710Lys) | |
| 7 | g.117592539C= | CA1737395348 | CFTR | c.2372C= (p.Thr791=) c.*2086C= (n.*2086C=) c.2189C= (p.Thr730=) c.*672C= (n.*672C=) c.*2196C= (n.*2196C=) c.1946C= (p.Thr649=) c.22C= c.1402-10287C= (n.1402-10287C=) c.2282C= (p.Thr761=) c.2462C= (p.Thr821=) c.2129C= (p.Thr710=) | |
| 7 | g.117592539C>G | CA368981078 | CFTR | c.2372C>G (p.Thr791Arg) c.*2086C>G (n.*2086C>G) c.2189C>G (p.Thr730Arg) c.*672C>G (n.*672C>G) c.*2196C>G (n.*2196C>G) c.1946C>G (p.Thr649Arg) c.22C>G c.1402-10287C>G (n.1402-10287C>G) c.2282C>G (p.Thr761Arg) c.2462C>G (p.Thr821Arg) c.2129C>G (p.Thr710Arg) | |
| 7 | g.117592539C>T | CA368981079 | CFTR | c.2372C>T (p.Thr791Ile) c.*2086C>T (n.*2086C>T) c.2189C>T (p.Thr730Ile) c.*672C>T (n.*672C>T) c.*2196C>T (n.*2196C>T) c.1946C>T (p.Thr649Ile) c.22C>T c.1402-10287C>T (n.1402-10287C>T) c.2282C>T (p.Thr761Ile) c.2462C>T (p.Thr821Ile) c.2129C>T (p.Thr710Ile) | dbSNP |
| 7 | g.117592539_117592540delinsCA | CA1737395346 | CFTR | c.2372_2373delinsCA (p.Thr791=) c.*2086_*2087delinsCA (n.*2086_*2087delinsCA) c.2189_2190delinsCA (p.Thr730=) c.*672_*673delinsCA (n.*672_*673delinsCA) c.*2196_*2197delinsCA (n.*2196_*2197delinsCA) c.1946_1947delinsCA (p.Thr649=) c.22_23delinsCA c.1402-10287_1402-10286delinsCA (n.1402-10287_1402-10286delinsCA) c.2282_2283delinsCA (p.Thr761=) c.2462_2463delinsCA (p.Thr821=) c.2129_2130delinsCA (p.Thr710=) | |
| 7 | g.117592540del | CA915945427 | CFTR | c.2373del (p.Arg792GlufsTer11) c.*2087del (n.*2087del) c.2190del (p.Arg731GlufsTer11) c.*673del (n.*673del) c.*2197del (n.*2197del) c.1947del (p.Arg650GlufsTer11) c.23del c.1402-10286del (n.1402-10286del) c.2283del (p.Arg762GlufsTer11) c.2463del (p.Arg822GlufsTer11) c.2130del (p.Arg711GlufsTer11) | ClinVar dbSNP |
| 7 | g.117592540A= | CA1737395358 | CFTR | c.2373A= (p.Thr791=) c.*2087A= (n.*2087A=) c.2190A= (p.Thr730=) c.*673A= (n.*673A=) c.*2197A= (n.*2197A=) c.1947A= (p.Thr649=) c.23A= c.1402-10286A= (n.1402-10286A=) c.2283A= (p.Thr761=) c.2463A= (p.Thr821=) c.2130A= (p.Thr710=) | |
| 7 | g.117592540A>C | CA457449909 | CFTR | c.2373A>C (p.Thr791=) c.*2087A>C (n.*2087A>C) c.2190A>C (p.Thr730=) c.*673A>C (n.*673A>C) c.*2197A>C (n.*2197A>C) c.1947A>C (p.Thr649=) c.23A>C c.1402-10286A>C (n.1402-10286A>C) c.2283A>C (p.Thr761=) c.2463A>C (p.Thr821=) c.2130A>C (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592540A>G | CA164948251 | CFTR | c.2373A>G (p.Thr791=) c.*2087A>G (n.*2087A>G) c.2190A>G (p.Thr730=) c.*673A>G (n.*673A>G) c.*2197A>G (n.*2197A>G) c.1947A>G (p.Thr649=) c.23A>G c.1402-10286A>G (n.1402-10286A>G) c.2283A>G (p.Thr761=) c.2463A>G (p.Thr821=) c.2130A>G (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117592540A>T | CA457449911 | CFTR | c.2373A>T (p.Thr791=) c.*2087A>T (n.*2087A>T) c.2190A>T (p.Thr730=) c.*673A>T (n.*673A>T) c.*2197A>T (n.*2197A>T) c.1947A>T (p.Thr649=) c.23A>T c.1402-10286A>T (n.1402-10286A>T) c.2283A>T (p.Thr761=) c.2463A>T (p.Thr821=) c.2130A>T (p.Thr710=) | |
| 7 | g.117592540_117592544delinsCC | CA2580614249 | CFTR | c.2373_2377delinsCC (p.Arg792_Lys793delinsGln) c.*2087_*2091delinsCC (n.*2087_*2091delinsCC) c.2190_2194delinsCC (p.Arg731_Lys732delinsGln) c.*673_*677delinsCC (n.*673_*677delinsCC) c.*2197_*2201delinsCC (n.*2197_*2201delinsCC) c.1947_1951delinsCC (p.Arg650_Lys651delinsGln) c.23_27delinsCC c.1402-10286_1402-10282delinsCC (n.1402-10286_1402-10282delinsCC) c.2283_2287delinsCC (p.Arg762_Lys763delinsGln) c.2463_2467delinsCC (p.Arg822_Lys823delinsGln) c.2130_2134delinsCC (p.Arg711_Lys712delinsGln) | ClinVar |
| 7 | g.117592541C>A | CA457449914 | CFTR | c.2374C>A (p.Arg792=) c.*2088C>A (n.*2088C>A) c.2191C>A (p.Arg731=) c.*674C>A (n.*674C>A) c.*2198C>A (n.*2198C>A) c.1948C>A (p.Arg650=) c.24C>A c.1402-10285C>A (n.1402-10285C>A) c.2284C>A (p.Arg762=) c.2464C>A (p.Arg822=) c.2131C>A (p.Arg711=) | ClinVar |
| 7 | g.117592541C= | CA1737395455 | CFTR | c.2374C= (p.Arg792=) c.*2088C= (n.*2088C=) c.2191C= (p.Arg731=) c.*674C= (n.*674C=) c.*2198C= (n.*2198C=) c.1948C= (p.Arg650=) c.24C= c.1402-10285C= (n.1402-10285C=) c.2284C= (p.Arg762=) c.2464C= (p.Arg822=) c.2131C= (p.Arg711=) | |
| 7 | g.117592541C>G | CA326806 | CFTR | c.2374C>G (p.Arg792Gly) c.*2088C>G (n.*2088C>G) c.2191C>G (p.Arg731Gly) c.*674C>G (n.*674C>G) c.*2198C>G (n.*2198C>G) c.1948C>G (p.Arg650Gly) c.24C>G c.1402-10285C>G (n.1402-10285C>G) c.2284C>G (p.Arg762Gly) c.2464C>G (p.Arg822Gly) c.2131C>G (p.Arg711Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592541C>T | CA326807 | CFTR | c.2374C>T (p.Arg792Ter) c.*2088C>T (n.*2088C>T) c.2191C>T (p.Arg731Ter) c.*674C>T (n.*674C>T) c.*2198C>T (n.*2198C>T) c.1948C>T (p.Arg650Ter) c.24C>T c.1402-10285C>T (n.1402-10285C>T) c.2284C>T (p.Arg762Ter) c.2464C>T (p.Arg822Ter) c.2131C>T (p.Arg711Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592542G>A | CA4451178 | CFTR | c.2375G>A (p.Arg792Gln) c.*2089G>A (n.*2089G>A) c.2192G>A (p.Arg731Gln) c.*675G>A (n.*675G>A) c.*2199G>A (n.*2199G>A) c.1949G>A (p.Arg650Gln) c.25G>A c.1402-10284G>A (n.1402-10284G>A) c.2285G>A (p.Arg762Gln) c.2465G>A (p.Arg822Gln) c.2132G>A (p.Arg711Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592542G>C | CA368981080 | CFTR | c.2375G>C (p.Arg792Pro) c.*2089G>C (n.*2089G>C) c.2192G>C (p.Arg731Pro) c.*675G>C (n.*675G>C) c.*2199G>C (n.*2199G>C) c.1949G>C (p.Arg650Pro) c.25G>C c.1402-10284G>C (n.1402-10284G>C) c.2285G>C (p.Arg762Pro) c.2465G>C (p.Arg822Pro) c.2132G>C (p.Arg711Pro) | |
| 7 | g.117592542G= | CA1737395468 | CFTR | c.2375G= (p.Arg792=) c.*2089G= (n.*2089G=) c.2192G= (p.Arg731=) c.*675G= (n.*675G=) c.*2199G= (n.*2199G=) c.1949G= (p.Arg650=) c.25G= c.1402-10284G= (n.1402-10284G=) c.2285G= (p.Arg762=) c.2465G= (p.Arg822=) c.2132G= (p.Arg711=) | |
| 7 | g.117592542G>T | CA368981081 | CFTR | c.2375G>T (p.Arg792Leu) c.*2089G>T (n.*2089G>T) c.2192G>T (p.Arg731Leu) c.*675G>T (n.*675G>T) c.*2199G>T (n.*2199G>T) c.1949G>T (p.Arg650Leu) c.25G>T c.1402-10284G>T (n.1402-10284G>T) c.2285G>T (p.Arg762Leu) c.2465G>T (p.Arg822Leu) c.2132G>T (p.Arg711Leu) | |
| 7 | g.117592542_117592544del | CA577680773 | CFTR | c.2375_2377del (p.Arg792_Lys793delinsGln) c.*2089_*2091del (n.*2089_*2091del) c.2192_2194del (p.Arg731_Lys732delinsGln) c.*675_*677del (n.*675_*677del) c.*2199_*2201del (n.*2199_*2201del) c.1949_1951del (p.Arg650_Lys651delinsGln) c.25_27del c.1402-10284_1402-10282del (n.1402-10284_1402-10282del) c.2285_2287del (p.Arg762_Lys763delinsGln) c.2465_2467del (p.Arg822_Lys823delinsGln) c.2132_2134del (p.Arg711_Lys712delinsGln) | gnomAD v2 gnomAD v4 |
| 7 | g.117592543A>C | CA457449919 | CFTR | c.2376A>C (p.Arg792=) c.*2090A>C (n.*2090A>C) c.2193A>C (p.Arg731=) c.*676A>C (n.*676A>C) c.*2200A>C (n.*2200A>C) c.1950A>C (p.Arg650=) c.26A>C c.1402-10283A>C (n.1402-10283A>C) c.2286A>C (p.Arg762=) c.2466A>C (p.Arg822=) c.2133A>C (p.Arg711=) | |
| 7 | g.117592543A>G | CA457449920 | CFTR | c.2376A>G (p.Arg792=) c.*2090A>G (n.*2090A>G) c.2193A>G (p.Arg731=) c.*676A>G (n.*676A>G) c.*2200A>G (n.*2200A>G) c.1950A>G (p.Arg650=) c.26A>G c.1402-10283A>G (n.1402-10283A>G) c.2286A>G (p.Arg762=) c.2466A>G (p.Arg822=) c.2133A>G (p.Arg711=) | |
| 7 | g.117592543A>T | CA457449922 | CFTR | c.2376A>T (p.Arg792=) c.*2090A>T (n.*2090A>T) c.2193A>T (p.Arg731=) c.*676A>T (n.*676A>T) c.*2200A>T (n.*2200A>T) c.1950A>T (p.Arg650=) c.26A>T c.1402-10283A>T (n.1402-10283A>T) c.2286A>T (p.Arg762=) c.2466A>T (p.Arg822=) c.2133A>T (p.Arg711=) | |
| 7 | g.117592546del | CA2580076555 | CFTR | c.2379del (p.Val794CysfsTer9) c.*2093del (n.*2093del) c.2196del (p.Val733CysfsTer9) c.*679del (n.*679del) c.*2203del (n.*2203del) c.1953del (p.Val652CysfsTer9) c.29del c.1402-10280del (n.1402-10280del) c.2289del (p.Val764CysfsTer9) c.2469del (p.Val824CysfsTer9) c.2136del (p.Val713CysfsTer9) | ClinVar |
| 7 | g.117592544A>C | CA368981082 | CFTR | c.2377A>C (p.Lys793Gln) c.*2091A>C (n.*2091A>C) c.2194A>C (p.Lys732Gln) c.*677A>C (n.*677A>C) c.*2201A>C (n.*2201A>C) c.1951A>C (p.Lys651Gln) c.27A>C c.1402-10282A>C (n.1402-10282A>C) c.2287A>C (p.Lys763Gln) c.2467A>C (p.Lys823Gln) c.2134A>C (p.Lys712Gln) | |
| 7 | g.117592544A>G | CA368981083 | CFTR | c.2377A>G (p.Lys793Glu) c.*2091A>G (n.*2091A>G) c.2194A>G (p.Lys732Glu) c.*677A>G (n.*677A>G) c.*2201A>G (n.*2201A>G) c.1951A>G (p.Lys651Glu) c.27A>G c.1402-10282A>G (n.1402-10282A>G) c.2287A>G (p.Lys763Glu) c.2467A>G (p.Lys823Glu) c.2134A>G (p.Lys712Glu) | |
| 7 | g.117592544A>T | CA368981084 | CFTR | c.2377A>T (p.Lys793Ter) c.*2091A>T (n.*2091A>T) c.2194A>T (p.Lys732Ter) c.*677A>T (n.*677A>T) c.*2201A>T (n.*2201A>T) c.1951A>T (p.Lys651Ter) c.27A>T c.1402-10282A>T (n.1402-10282A>T) c.2287A>T (p.Lys763Ter) c.2467A>T (p.Lys823Ter) c.2134A>T (p.Lys712Ter) | |
| 7 | g.117592545A>C | CA368981087 | CFTR | c.2378A>C (p.Lys793Thr) c.*2092A>C (n.*2092A>C) c.2195A>C (p.Lys732Thr) c.*678A>C (n.*678A>C) c.*2202A>C (n.*2202A>C) c.1952A>C (p.Lys651Thr) c.28A>C c.1402-10281A>C (n.1402-10281A>C) c.2288A>C (p.Lys763Thr) c.2468A>C (p.Lys823Thr) c.2135A>C (p.Lys712Thr) | |
| 7 | g.117592545A>G | CA368981085 | CFTR | c.2378A>G (p.Lys793Arg) c.*2092A>G (n.*2092A>G) c.2195A>G (p.Lys732Arg) c.*678A>G (n.*678A>G) c.*2202A>G (n.*2202A>G) c.1952A>G (p.Lys651Arg) c.28A>G c.1402-10281A>G (n.1402-10281A>G) c.2288A>G (p.Lys763Arg) c.2468A>G (p.Lys823Arg) c.2135A>G (p.Lys712Arg) | gnomAD v4 |
| 7 | g.117592545A>T | CA368981086 | CFTR | c.2378A>T (p.Lys793Ile) c.*2092A>T (n.*2092A>T) c.2195A>T (p.Lys732Ile) c.*678A>T (n.*678A>T) c.*2202A>T (n.*2202A>T) c.1952A>T (p.Lys651Ile) c.28A>T c.1402-10281A>T (n.1402-10281A>T) c.2288A>T (p.Lys763Ile) c.2468A>T (p.Lys823Ile) c.2135A>T (p.Lys712Ile) | |
| 7 | g.117592546A>C | CA368981088 | CFTR | c.2379A>C (p.Lys793Asn) c.*2093A>C (n.*2093A>C) c.2196A>C (p.Lys732Asn) c.*679A>C (n.*679A>C) c.*2203A>C (n.*2203A>C) c.1953A>C (p.Lys651Asn) c.29A>C c.1402-10280A>C (n.1402-10280A>C) c.2289A>C (p.Lys763Asn) c.2469A>C (p.Lys823Asn) c.2136A>C (p.Lys712Asn) | |
| 7 | g.117592546A>G | CA457449926 | CFTR | c.2379A>G (p.Lys793=) c.*2093A>G (n.*2093A>G) c.2196A>G (p.Lys732=) c.*679A>G (n.*679A>G) c.*2203A>G (n.*2203A>G) c.1953A>G (p.Lys651=) c.29A>G c.1402-10280A>G (n.1402-10280A>G) c.2289A>G (p.Lys763=) c.2469A>G (p.Lys823=) c.2136A>G (p.Lys712=) | |
| 7 | g.117592546A>T | CA368981089 | CFTR | c.2379A>T (p.Lys793Asn) c.*2093A>T (n.*2093A>T) c.2196A>T (p.Lys732Asn) c.*679A>T (n.*679A>T) c.*2203A>T (n.*2203A>T) c.1953A>T (p.Lys651Asn) c.29A>T c.1402-10280A>T (n.1402-10280A>T) c.2289A>T (p.Lys763Asn) c.2469A>T (p.Lys823Asn) c.2136A>T (p.Lys712Asn) | ClinVar |
| 7 | g.117592547G>A | CA368981090 | CFTR | c.2380G>A (p.Val794Met) c.*2094G>A (n.*2094G>A) c.2197G>A (p.Val733Met) c.*680G>A (n.*680G>A) c.*2204G>A (n.*2204G>A) c.1954G>A (p.Val652Met) c.30G>A c.1402-10279G>A (n.1402-10279G>A) c.2290G>A (p.Val764Met) c.2470G>A (p.Val824Met) c.2137G>A (p.Val713Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592547G>C | CA368981091 | CFTR | c.2380G>C (p.Val794Leu) c.*2094G>C (n.*2094G>C) c.2197G>C (p.Val733Leu) c.*680G>C (n.*680G>C) c.*2204G>C (n.*2204G>C) c.1954G>C (p.Val652Leu) c.30G>C c.1402-10279G>C (n.1402-10279G>C) c.2290G>C (p.Val764Leu) c.2470G>C (p.Val824Leu) c.2137G>C (p.Val713Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592547G= | CA1737395470 | CFTR | c.2380G= (p.Val794=) c.*2094G= (n.*2094G=) c.2197G= (p.Val733=) c.*680G= (n.*680G=) c.*2204G= (n.*2204G=) c.1954G= (p.Val652=) c.30G= c.1402-10279G= (n.1402-10279G=) c.2290G= (p.Val764=) c.2470G= (p.Val824=) c.2137G= (p.Val713=) | |
| 7 | g.117592547G>T | CA368981092 | CFTR | c.2380G>T (p.Val794Leu) c.*2094G>T (n.*2094G>T) c.2197G>T (p.Val733Leu) c.*680G>T (n.*680G>T) c.*2204G>T (n.*2204G>T) c.1954G>T (p.Val652Leu) c.30G>T c.1402-10279G>T (n.1402-10279G>T) c.2290G>T (p.Val764Leu) c.2470G>T (p.Val824Leu) c.2137G>T (p.Val713Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592549_117592550del | CA2580617857 | CFTR | c.2382_2383del (p.Ser795ThrfsTer9) c.*2096_*2097del (n.*2096_*2097del) c.2199_2200del (p.Ser734ThrfsTer9) c.*682_*683del (n.*682_*683del) c.*2206_*2207del (n.*2206_*2207del) c.1956_1957del (p.Ser653ThrfsTer9) c.32_33del c.1402-10277_1402-10276del (n.1402-10277_1402-10276del) c.2292_2293del (p.Ser765ThrfsTer9) c.2472_2473del (p.Ser825ThrfsTer9) c.2139_2140del (p.Ser714ThrfsTer9) | ClinVar |
| 7 | g.117592548_117592617del | CA2695199624 | CFTR | c.2381_2450del (p.Val794AlafsTer4) c.*2095_*2164del (n.*2095_*2164del) c.2198_2267del (p.Val733AlafsTer4) c.*681_*750del (n.*681_*750del) c.*2205_*2274del (n.*2205_*2274del) c.1955_2024del (p.Val652AlafsTer4) c.31_100del c.1402-10278_1402-10209del (n.1402-10278_1402-10209del) c.2291_2360del (p.Val764AlafsTer4) c.2471_2540del (p.Val824AlafsTer4) c.2138_2207del (p.Val713AlafsTer4) | ClinVar |
| 7 | g.117592548T>A | CA368981093 | CFTR | c.2381T>A (p.Val794Glu) c.*2095T>A (n.*2095T>A) c.2198T>A (p.Val733Glu) c.*681T>A (n.*681T>A) c.*2205T>A (n.*2205T>A) c.1955T>A (p.Val652Glu) c.31T>A c.1402-10278T>A (n.1402-10278T>A) c.2291T>A (p.Val764Glu) c.2471T>A (p.Val824Glu) c.2138T>A (p.Val713Glu) | ClinVar |
| 7 | g.117592548T>C | CA368981094 | CFTR | c.2381T>C (p.Val794Ala) c.*2095T>C (n.*2095T>C) c.2198T>C (p.Val733Ala) c.*681T>C (n.*681T>C) c.*2205T>C (n.*2205T>C) c.1955T>C (p.Val652Ala) c.31T>C c.1402-10278T>C (n.1402-10278T>C) c.2291T>C (p.Val764Ala) c.2471T>C (p.Val824Ala) c.2138T>C (p.Val713Ala) | |
| 7 | g.117592548T>G | CA368981095 | CFTR | c.2381T>G (p.Val794Gly) c.*2095T>G (n.*2095T>G) c.2198T>G (p.Val733Gly) c.*681T>G (n.*681T>G) c.*2205T>G (n.*2205T>G) c.1955T>G (p.Val652Gly) c.31T>G c.1402-10278T>G (n.1402-10278T>G) c.2291T>G (p.Val764Gly) c.2471T>G (p.Val824Gly) c.2138T>G (p.Val713Gly) | |
| 7 | g.117592549G>A | CA457449937 | CFTR | c.2382G>A (p.Val794=) c.*2096G>A (n.*2096G>A) c.2199G>A (p.Val733=) c.*682G>A (n.*682G>A) c.*2206G>A (n.*2206G>A) c.1956G>A (p.Val652=) c.32G>A c.1402-10277G>A (n.1402-10277G>A) c.2292G>A (p.Val764=) c.2472G>A (p.Val824=) c.2139G>A (p.Val713=) | |
| 7 | g.117592549G>C | CA457449936 | CFTR | c.2382G>C (p.Val794=) c.*2096G>C (n.*2096G>C) c.2199G>C (p.Val733=) c.*682G>C (n.*682G>C) c.*2206G>C (n.*2206G>C) c.1956G>C (p.Val652=) c.32G>C c.1402-10277G>C (n.1402-10277G>C) c.2292G>C (p.Val764=) c.2472G>C (p.Val824=) c.2139G>C (p.Val713=) | |
| 7 | g.117592549G>T | CA457449935 | CFTR | c.2382G>T (p.Val794=) c.*2096G>T (n.*2096G>T) c.2199G>T (p.Val733=) c.*682G>T (n.*682G>T) c.*2206G>T (n.*2206G>T) c.1956G>T (p.Val652=) c.32G>T c.1402-10277G>T (n.1402-10277G>T) c.2292G>T (p.Val764=) c.2472G>T (p.Val824=) c.2139G>T (p.Val713=) | |
| 7 | g.117592550T>A | CA368981096 | CFTR | c.2383T>A (p.Ser795Thr) c.*2097T>A (n.*2097T>A) c.2200T>A (p.Ser734Thr) c.*683T>A (n.*683T>A) c.*2207T>A (n.*2207T>A) c.1957T>A (p.Ser653Thr) c.33T>A c.1402-10276T>A (n.1402-10276T>A) c.2293T>A (p.Ser765Thr) c.2473T>A (p.Ser825Thr) c.2140T>A (p.Ser714Thr) | |
| 7 | g.117592550T>C | CA368981097 | CFTR | c.2383T>C (p.Ser795Pro) c.*2097T>C (n.*2097T>C) c.2200T>C (p.Ser734Pro) c.*683T>C (n.*683T>C) c.*2207T>C (n.*2207T>C) c.1957T>C (p.Ser653Pro) c.33T>C c.1402-10276T>C (n.1402-10276T>C) c.2293T>C (p.Ser765Pro) c.2473T>C (p.Ser825Pro) c.2140T>C (p.Ser714Pro) |