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.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.117592569A= | CA1737395533 | CFTR | c.2402A= (p.Asn801=) c.*2116A= (n.*2116A=) c.2219A= (p.Asn740=) c.*702A= (n.*702A=) c.*2226A= (n.*2226A=) c.1976A= (p.Asn659=) c.52A= c.1402-10257A= (n.1402-10257A=) c.2312A= (p.Asn771=) c.2492A= (p.Asn831=) c.2159A= (p.Asn720=) | |
| 7 | g.117592569A>C | CA368981142 | CFTR | c.2402A>C (p.Asn801Thr) c.*2116A>C (n.*2116A>C) c.2219A>C (p.Asn740Thr) c.*702A>C (n.*702A>C) c.*2226A>C (n.*2226A>C) c.1976A>C (p.Asn659Thr) c.52A>C c.1402-10257A>C (n.1402-10257A>C) c.2312A>C (p.Asn771Thr) c.2492A>C (p.Asn831Thr) c.2159A>C (p.Asn720Thr) | |
| 7 | g.117592569A>G | CA368981144 | CFTR | c.2402A>G (p.Asn801Ser) c.*2116A>G (n.*2116A>G) c.2219A>G (p.Asn740Ser) c.*702A>G (n.*702A>G) c.*2226A>G (n.*2226A>G) c.1976A>G (p.Asn659Ser) c.52A>G c.1402-10257A>G (n.1402-10257A>G) c.2312A>G (p.Asn771Ser) c.2492A>G (p.Asn831Ser) c.2159A>G (p.Asn720Ser) | ClinVar dbSNP |
| 7 | g.117592569A>T | CA368981146 | CFTR | c.2402A>T (p.Asn801Ile) c.*2116A>T (n.*2116A>T) c.2219A>T (p.Asn740Ile) c.*702A>T (n.*702A>T) c.*2226A>T (n.*2226A>T) c.1976A>T (p.Asn659Ile) c.52A>T c.1402-10257A>T (n.1402-10257A>T) c.2312A>T (p.Asn771Ile) c.2492A>T (p.Asn831Ile) c.2159A>T (p.Asn720Ile) | ClinVar gnomAD v4 |
| 7 | g.117592570C>A | CA368981147 | CFTR | c.2403C>A (p.Asn801Lys) c.*2117C>A (n.*2117C>A) c.2220C>A (p.Asn740Lys) c.*703C>A (n.*703C>A) c.*2227C>A (n.*2227C>A) c.1977C>A (p.Asn659Lys) c.53C>A c.1402-10256C>A (n.1402-10256C>A) c.2313C>A (p.Asn771Lys) c.2493C>A (p.Asn831Lys) c.2160C>A (p.Asn720Lys) | |
| 7 | g.117592570C= | CA1737395537 | CFTR | c.2403C= (p.Asn801=) c.*2117C= (n.*2117C=) c.2220C= (p.Asn740=) c.*703C= (n.*703C=) c.*2227C= (n.*2227C=) c.1977C= (p.Asn659=) c.53C= c.1402-10256C= (n.1402-10256C=) c.2313C= (p.Asn771=) c.2493C= (p.Asn831=) c.2160C= (p.Asn720=) | |
| 7 | g.117592570C>G | CA368981148 | CFTR | c.2403C>G (p.Asn801Lys) c.*2117C>G (n.*2117C>G) c.2220C>G (p.Asn740Lys) c.*703C>G (n.*703C>G) c.*2227C>G (n.*2227C>G) c.1977C>G (p.Asn659Lys) c.53C>G c.1402-10256C>G (n.1402-10256C>G) c.2313C>G (p.Asn771Lys) c.2493C>G (p.Asn831Lys) c.2160C>G (p.Asn720Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592570C>T | CA4451180 | CFTR | c.2403C>T (p.Asn801=) c.*2117C>T (n.*2117C>T) c.2220C>T (p.Asn740=) c.*703C>T (n.*703C>T) c.*2227C>T (n.*2227C>T) c.1977C>T (p.Asn659=) c.53C>T c.1402-10256C>T (n.1402-10256C>T) c.2313C>T (p.Asn771=) c.2493C>T (p.Asn831=) c.2160C>T (p.Asn720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592571T>A | CA368981149 | CFTR | c.2404T>A (p.Leu802Met) c.*2118T>A (n.*2118T>A) c.2221T>A (p.Leu741Met) c.*704T>A (n.*704T>A) c.*2228T>A (n.*2228T>A) c.1978T>A (p.Leu660Met) c.54T>A c.1402-10255T>A (n.1402-10255T>A) c.2314T>A (p.Leu772Met) c.2494T>A (p.Leu832Met) c.2161T>A (p.Leu721Met) | |
| 7 | g.117592571T>C | CA457448929 | CFTR | c.2404T>C (p.Leu802=) c.*2118T>C (n.*2118T>C) c.2221T>C (p.Leu741=) c.*704T>C (n.*704T>C) c.*2228T>C (n.*2228T>C) c.1978T>C (p.Leu660=) c.54T>C c.1402-10255T>C (n.1402-10255T>C) c.2314T>C (p.Leu772=) c.2494T>C (p.Leu832=) c.2161T>C (p.Leu721=) | |
| 7 | g.117592571T>G | CA368981151 | CFTR | c.2404T>G (p.Leu802Val) c.*2118T>G (n.*2118T>G) c.2221T>G (p.Leu741Val) c.*704T>G (n.*704T>G) c.*2228T>G (n.*2228T>G) c.1978T>G (p.Leu660Val) c.54T>G c.1402-10255T>G (n.1402-10255T>G) c.2314T>G (p.Leu772Val) c.2494T>G (p.Leu832Val) c.2161T>G (p.Leu721Val) | ClinVar |
| 7 | g.117592572T>A | CA368981152 | CFTR | c.2405T>A (p.Leu802Ter) c.*2119T>A (n.*2119T>A) c.2222T>A (p.Leu741Ter) c.*705T>A (n.*705T>A) c.*2229T>A (n.*2229T>A) c.1979T>A (p.Leu660Ter) c.55T>A c.1402-10254T>A (n.1402-10254T>A) c.2315T>A (p.Leu772Ter) c.2495T>A (p.Leu832Ter) c.2162T>A (p.Leu721Ter) | |
| 7 | g.117592572T>C | CA368981153 | CFTR | c.2405T>C (p.Leu802Ser) c.*2119T>C (n.*2119T>C) c.2222T>C (p.Leu741Ser) c.*705T>C (n.*705T>C) c.*2229T>C (n.*2229T>C) c.1979T>C (p.Leu660Ser) c.55T>C c.1402-10254T>C (n.1402-10254T>C) c.2315T>C (p.Leu772Ser) c.2495T>C (p.Leu832Ser) c.2162T>C (p.Leu721Ser) | gnomAD v4 |
| 7 | g.117592572T>G | CA368981155 | CFTR | c.2405T>G (p.Leu802Trp) c.*2119T>G (n.*2119T>G) c.2222T>G (p.Leu741Trp) c.*705T>G (n.*705T>G) c.*2229T>G (n.*2229T>G) c.1979T>G (p.Leu660Trp) c.55T>G c.1402-10254T>G (n.1402-10254T>G) c.2315T>G (p.Leu772Trp) c.2495T>G (p.Leu832Trp) c.2162T>G (p.Leu721Trp) | |
| 7 | g.117592573G>A | CA457448932 | CFTR | c.2406G>A (p.Leu802=) c.*2120G>A (n.*2120G>A) c.2223G>A (p.Leu741=) c.*706G>A (n.*706G>A) c.*2230G>A (n.*2230G>A) c.1980G>A (p.Leu660=) c.56G>A c.1402-10253G>A (n.1402-10253G>A) c.2316G>A (p.Leu772=) c.2496G>A (p.Leu832=) c.2163G>A (p.Leu721=) | |
| 7 | g.117592573G>C | CA368981156 | CFTR | c.2406G>C (p.Leu802Phe) c.*2120G>C (n.*2120G>C) c.2223G>C (p.Leu741Phe) c.*706G>C (n.*706G>C) c.*2230G>C (n.*2230G>C) c.1980G>C (p.Leu660Phe) c.56G>C c.1402-10253G>C (n.1402-10253G>C) c.2316G>C (p.Leu772Phe) c.2496G>C (p.Leu832Phe) c.2163G>C (p.Leu721Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592573G= | CA1737395540 | CFTR | c.2406G= (p.Leu802=) c.*2120G= (n.*2120G=) c.2223G= (p.Leu741=) c.*706G= (n.*706G=) c.*2230G= (n.*2230G=) c.1980G= (p.Leu660=) c.56G= c.1402-10253G= (n.1402-10253G=) c.2316G= (p.Leu772=) c.2496G= (p.Leu832=) c.2163G= (p.Leu721=) | |
| 7 | g.117592573G>T | CA368981157 | CFTR | c.2406G>T (p.Leu802Phe) c.*2120G>T (n.*2120G>T) c.2223G>T (p.Leu741Phe) c.*706G>T (n.*706G>T) c.*2230G>T (n.*2230G>T) c.1980G>T (p.Leu660Phe) c.56G>T c.1402-10253G>T (n.1402-10253G>T) c.2316G>T (p.Leu772Phe) c.2496G>T (p.Leu832Phe) c.2163G>T (p.Leu721Phe) | gnomAD v4 |
| 7 | g.117592574A= | CA1737395543 | CFTR | c.2407A= (p.Thr803=) c.*2121A= (n.*2121A=) c.2224A= (p.Thr742=) c.*707A= (n.*707A=) c.*2231A= (n.*2231A=) c.1981A= (p.Thr661=) c.57A= c.1402-10252A= (n.1402-10252A=) c.2317A= (p.Thr773=) c.2497A= (p.Thr833=) c.2164A= (p.Thr722=) | |
| 7 | g.117592574A>C | CA368981159 | CFTR | c.2407A>C (p.Thr803Pro) c.*2121A>C (n.*2121A>C) c.2224A>C (p.Thr742Pro) c.*707A>C (n.*707A>C) c.*2231A>C (n.*2231A>C) c.1981A>C (p.Thr661Pro) c.57A>C c.1402-10252A>C (n.1402-10252A>C) c.2317A>C (p.Thr773Pro) c.2497A>C (p.Thr833Pro) c.2164A>C (p.Thr722Pro) | |
| 7 | g.117592574A>G | CA368981163 | CFTR | c.2407A>G (p.Thr803Ala) c.*2121A>G (n.*2121A>G) c.2224A>G (p.Thr742Ala) c.*707A>G (n.*707A>G) c.*2231A>G (n.*2231A>G) c.1981A>G (p.Thr661Ala) c.57A>G c.1402-10252A>G (n.1402-10252A>G) c.2317A>G (p.Thr773Ala) c.2497A>G (p.Thr833Ala) c.2164A>G (p.Thr722Ala) | |
| 7 | g.117592574A>T | CA368981161 | CFTR | c.2407A>T (p.Thr803Ser) c.*2121A>T (n.*2121A>T) c.2224A>T (p.Thr742Ser) c.*707A>T (n.*707A>T) c.*2231A>T (n.*2231A>T) c.1981A>T (p.Thr661Ser) c.57A>T c.1402-10252A>T (n.1402-10252A>T) c.2317A>T (p.Thr773Ser) c.2497A>T (p.Thr833Ser) c.2164A>T (p.Thr722Ser) | ClinVar dbSNP |
| 7 | g.117592575C>A | CA368981165 | CFTR | c.2408C>A (p.Thr803Asn) c.*2122C>A (n.*2122C>A) c.2225C>A (p.Thr742Asn) c.*708C>A (n.*708C>A) c.*2232C>A (n.*2232C>A) c.1982C>A (p.Thr661Asn) c.58C>A c.1402-10251C>A (n.1402-10251C>A) c.2318C>A (p.Thr773Asn) c.2498C>A (p.Thr833Asn) c.2165C>A (p.Thr722Asn) | |
| 7 | g.117592575C>G | CA368981167 | CFTR | c.2408C>G (p.Thr803Ser) c.*2122C>G (n.*2122C>G) c.2225C>G (p.Thr742Ser) c.*708C>G (n.*708C>G) c.*2232C>G (n.*2232C>G) c.1982C>G (p.Thr661Ser) c.58C>G c.1402-10251C>G (n.1402-10251C>G) c.2318C>G (p.Thr773Ser) c.2498C>G (p.Thr833Ser) c.2165C>G (p.Thr722Ser) | |
| 7 | g.117592575C>T | CA368981168 | CFTR | c.2408C>T (p.Thr803Ile) c.*2122C>T (n.*2122C>T) c.2225C>T (p.Thr742Ile) c.*708C>T (n.*708C>T) c.*2232C>T (n.*2232C>T) c.1982C>T (p.Thr661Ile) c.58C>T c.1402-10251C>T (n.1402-10251C>T) c.2318C>T (p.Thr773Ile) c.2498C>T (p.Thr833Ile) c.2165C>T (p.Thr722Ile) | gnomAD v4 |
| 7 | g.117592576T>A | CA457448935 | CFTR | c.2409T>A (p.Thr803=) c.*2123T>A (n.*2123T>A) c.2226T>A (p.Thr742=) c.*709T>A (n.*709T>A) c.*2233T>A (n.*2233T>A) c.1983T>A (p.Thr661=) c.59T>A c.1402-10250T>A (n.1402-10250T>A) c.2319T>A (p.Thr773=) c.2499T>A (p.Thr833=) c.2166T>A (p.Thr722=) | |
| 7 | g.117592576T>C | CA457448936 | CFTR | c.2409T>C (p.Thr803=) c.*2123T>C (n.*2123T>C) c.2226T>C (p.Thr742=) c.*709T>C (n.*709T>C) c.*2233T>C (n.*2233T>C) c.1983T>C (p.Thr661=) c.59T>C c.1402-10250T>C (n.1402-10250T>C) c.2319T>C (p.Thr773=) c.2499T>C (p.Thr833=) c.2166T>C (p.Thr722=) | gnomAD v4 |
| 7 | g.117592576T>G | CA457448938 | CFTR | c.2409T>G (p.Thr803=) c.*2123T>G (n.*2123T>G) c.2226T>G (p.Thr742=) c.*709T>G (n.*709T>G) c.*2233T>G (n.*2233T>G) c.1983T>G (p.Thr661=) c.59T>G c.1402-10250T>G (n.1402-10250T>G) c.2319T>G (p.Thr773=) c.2499T>G (p.Thr833=) c.2166T>G (p.Thr722=) | gnomAD v4 |
| 7 | g.117592577G>A | CA368981169 | CFTR | c.2410G>A (p.Glu804Lys) c.*2124G>A (n.*2124G>A) c.2227G>A (p.Glu743Lys) c.*710G>A (n.*710G>A) c.*2234G>A (n.*2234G>A) c.1984G>A (p.Glu662Lys) c.1G>A (p.Glu1Lys) c.60G>A c.1402-10249G>A (n.1402-10249G>A) c.2320G>A (p.Glu774Lys) c.2500G>A (p.Glu834Lys) c.2167G>A (p.Glu723Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592577G>C | CA368981171 | CFTR | c.2410G>C (p.Glu804Gln) c.*2124G>C (n.*2124G>C) c.2227G>C (p.Glu743Gln) c.*710G>C (n.*710G>C) c.*2234G>C (n.*2234G>C) c.1984G>C (p.Glu662Gln) c.1G>C (p.Glu1Gln) c.60G>C c.1402-10249G>C (n.1402-10249G>C) c.2320G>C (p.Glu774Gln) c.2500G>C (p.Glu834Gln) c.2167G>C (p.Glu723Gln) | |
| 7 | g.117592577G= | CA1737395553 | CFTR | c.2410G= (p.Glu804=) c.*2124G= (n.*2124G=) c.2227G= (p.Glu743=) c.*710G= (n.*710G=) c.*2234G= (n.*2234G=) c.1984G= (p.Glu662=) c.1G= (p.Glu1=) c.60G= c.1402-10249G= (n.1402-10249G=) c.2320G= (p.Glu774=) c.2500G= (p.Glu834=) c.2167G= (p.Glu723=) | |
| 7 | g.117592577G>T | CA368981172 | CFTR | c.2410G>T (p.Glu804Ter) c.*2124G>T (n.*2124G>T) c.2227G>T (p.Glu743Ter) c.*710G>T (n.*710G>T) c.*2234G>T (n.*2234G>T) c.1984G>T (p.Glu662Ter) c.1G>T (p.Glu1Ter) c.60G>T c.1402-10249G>T (n.1402-10249G>T) c.2320G>T (p.Glu774Ter) c.2500G>T (p.Glu834Ter) c.2167G>T (p.Glu723Ter) | ClinVar dbSNP |
| 7 | g.117592578A= | CA1737395556 | CFTR | c.2411A= (p.Glu804=) c.*2125A= (n.*2125A=) c.2228A= (p.Glu743=) c.*711A= (n.*711A=) c.*2235A= (n.*2235A=) c.1985A= (p.Glu662=) c.2A= (p.Glu1=) c.61A= c.1402-10248A= (n.1402-10248A=) c.2321A= (p.Glu774=) c.2501A= (p.Glu834=) c.2168A= (p.Glu723=) | |
| 7 | g.117592578A>C | CA368981173 | CFTR | c.2411A>C (p.Glu804Ala) c.*2125A>C (n.*2125A>C) c.2228A>C (p.Glu743Ala) c.*711A>C (n.*711A>C) c.*2235A>C (n.*2235A>C) c.1985A>C (p.Glu662Ala) c.2A>C (p.Glu1Ala) c.61A>C c.1402-10248A>C (n.1402-10248A>C) c.2321A>C (p.Glu774Ala) c.2501A>C (p.Glu834Ala) c.2168A>C (p.Glu723Ala) | |
| 7 | g.117592578A>G | CA368981175 | CFTR | c.2411A>G (p.Glu804Gly) c.*2125A>G (n.*2125A>G) c.2228A>G (p.Glu743Gly) c.*711A>G (n.*711A>G) c.*2235A>G (n.*2235A>G) c.1985A>G (p.Glu662Gly) c.2A>G (p.Glu1Gly) c.61A>G c.1402-10248A>G (n.1402-10248A>G) c.2321A>G (p.Glu774Gly) c.2501A>G (p.Glu834Gly) c.2168A>G (p.Glu723Gly) | |
| 7 | g.117592578A>T | CA326811 | CFTR | c.2411A>T (p.Glu804Val) c.*2125A>T (n.*2125A>T) c.2228A>T (p.Glu743Val) c.*711A>T (n.*711A>T) c.*2235A>T (n.*2235A>T) c.1985A>T (p.Glu662Val) c.2A>T (p.Glu1Val) c.61A>T c.1402-10248A>T (n.1402-10248A>T) c.2321A>T (p.Glu774Val) c.2501A>T (p.Glu834Val) c.2168A>T (p.Glu723Val) | ClinVar dbSNP |
| 7 | g.117592579A= | CA1737395559 | CFTR | c.2412A= (p.Glu804=) c.*2126A= (n.*2126A=) c.2229A= (p.Glu743=) c.*712A= (n.*712A=) c.*2236A= (n.*2236A=) c.1986A= (p.Glu662=) c.3A= (p.Glu1=) c.62A= c.1402-10247A= (n.1402-10247A=) c.2322A= (p.Glu774=) c.2502A= (p.Glu834=) c.2169A= (p.Glu723=) | |
| 7 | g.117592579A>C | CA368981178 | CFTR | c.2412A>C (p.Glu804Asp) c.*2126A>C (n.*2126A>C) c.2229A>C (p.Glu743Asp) c.*712A>C (n.*712A>C) c.*2236A>C (n.*2236A>C) c.1986A>C (p.Glu662Asp) c.3A>C (p.Glu1Asp) c.62A>C c.1402-10247A>C (n.1402-10247A>C) c.2322A>C (p.Glu774Asp) c.2502A>C (p.Glu834Asp) c.2169A>C (p.Glu723Asp) | dbSNP |
| 7 | g.117592579A>G | CA457448940 | CFTR | c.2412A>G (p.Glu804=) c.*2126A>G (n.*2126A>G) c.2229A>G (p.Glu743=) c.*712A>G (n.*712A>G) c.*2236A>G (n.*2236A>G) c.1986A>G (p.Glu662=) c.3A>G (p.Glu1=) c.62A>G c.1402-10247A>G (n.1402-10247A>G) c.2322A>G (p.Glu774=) c.2502A>G (p.Glu834=) c.2169A>G (p.Glu723=) | dbSNP gnomAD v4 |
| 7 | g.117592579A>T | CA368981179 | CFTR | c.2412A>T (p.Glu804Asp) c.*2126A>T (n.*2126A>T) c.2229A>T (p.Glu743Asp) c.*712A>T (n.*712A>T) c.*2236A>T (n.*2236A>T) c.1986A>T (p.Glu662Asp) c.3A>T (p.Glu1Asp) c.62A>T c.1402-10247A>T (n.1402-10247A>T) c.2322A>T (p.Glu774Asp) c.2502A>T (p.Glu834Asp) c.2169A>T (p.Glu723Asp) | |
| 7 | g.117592580C>A | CA368981182 | CFTR | c.2413C>A (p.Leu805Met) c.*2127C>A (n.*2127C>A) c.2230C>A (p.Leu744Met) c.*713C>A (n.*713C>A) c.*2237C>A (n.*2237C>A) c.1987C>A (p.Leu663Met) c.4C>A (p.Leu2Met) c.63C>A c.1402-10246C>A (n.1402-10246C>A) c.2323C>A (p.Leu775Met) c.2503C>A (p.Leu835Met) c.2170C>A (p.Leu724Met) | gnomAD v4 |
| 7 | g.117592580C>G | CA368981181 | CFTR | c.2413C>G (p.Leu805Val) c.*2127C>G (n.*2127C>G) c.2230C>G (p.Leu744Val) c.*713C>G (n.*713C>G) c.*2237C>G (n.*2237C>G) c.1987C>G (p.Leu663Val) c.4C>G (p.Leu2Val) c.63C>G c.1402-10246C>G (n.1402-10246C>G) c.2323C>G (p.Leu775Val) c.2503C>G (p.Leu835Val) c.2170C>G (p.Leu724Val) | |
| 7 | g.117592580C>T | CA457448942 | CFTR | c.2413C>T (p.Leu805=) c.*2127C>T (n.*2127C>T) c.2230C>T (p.Leu744=) c.*713C>T (n.*713C>T) c.*2237C>T (n.*2237C>T) c.1987C>T (p.Leu663=) c.4C>T (p.Leu2=) c.63C>T c.1402-10246C>T (n.1402-10246C>T) c.2323C>T (p.Leu775=) c.2503C>T (p.Leu835=) c.2170C>T (p.Leu724=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592581T>A | CA368981183 | CFTR | c.2414T>A (p.Leu805Gln) c.*2128T>A (n.*2128T>A) c.2231T>A (p.Leu744Gln) c.*714T>A (n.*714T>A) c.*2238T>A (n.*2238T>A) c.1988T>A (p.Leu663Gln) c.5T>A (p.Leu2Gln) c.64T>A c.1402-10245T>A (n.1402-10245T>A) c.2324T>A (p.Leu775Gln) c.2504T>A (p.Leu835Gln) c.2171T>A (p.Leu724Gln) | |
| 7 | g.117592581T>C | CA368981184 | CFTR | c.2414T>C (p.Leu805Pro) c.*2128T>C (n.*2128T>C) c.2231T>C (p.Leu744Pro) c.*714T>C (n.*714T>C) c.*2238T>C (n.*2238T>C) c.1988T>C (p.Leu663Pro) c.5T>C (p.Leu2Pro) c.64T>C c.1402-10245T>C (n.1402-10245T>C) c.2324T>C (p.Leu775Pro) c.2504T>C (p.Leu835Pro) c.2171T>C (p.Leu724Pro) | |
| 7 | g.117592581T>G | CA368981187 | CFTR | c.2414T>G (p.Leu805Arg) c.*2128T>G (n.*2128T>G) c.2231T>G (p.Leu744Arg) c.*714T>G (n.*714T>G) c.*2238T>G (n.*2238T>G) c.1988T>G (p.Leu663Arg) c.5T>G (p.Leu2Arg) c.64T>G c.1402-10245T>G (n.1402-10245T>G) c.2324T>G (p.Leu775Arg) c.2504T>G (p.Leu835Arg) c.2171T>G (p.Leu724Arg) | |
| 7 | g.117592582G>A | CA457448943 | CFTR | c.2415G>A (p.Leu805=) c.*2129G>A (n.*2129G>A) c.2232G>A (p.Leu744=) c.*715G>A (n.*715G>A) c.*2239G>A (n.*2239G>A) c.1989G>A (p.Leu663=) c.6G>A (p.Leu2=) c.65G>A c.1402-10244G>A (n.1402-10244G>A) c.2325G>A (p.Leu775=) c.2505G>A (p.Leu835=) c.2172G>A (p.Leu724=) | |
| 7 | g.117592582G>C | CA457448944 | CFTR | c.2415G>C (p.Leu805=) c.*2129G>C (n.*2129G>C) c.2232G>C (p.Leu744=) c.*715G>C (n.*715G>C) c.*2239G>C (n.*2239G>C) c.1989G>C (p.Leu663=) c.6G>C (p.Leu2=) c.65G>C c.1402-10244G>C (n.1402-10244G>C) c.2325G>C (p.Leu775=) c.2505G>C (p.Leu835=) c.2172G>C (p.Leu724=) | ClinVar |