WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894841A>C | CA352174956 | SCN11A | c.2527T>G (p.Phe843Val) c.2347T>G (p.Phe783Val) c.2571T>G (n.2571T>G) c.2146T>G (p.Phe716Val) c.1864T>G (p.Phe622Val) c.1075T>G (p.Phe359Val) c.2902T>G (p.Phe968Val) c.2329T>G (p.Phe777Val) c.2254T>G (p.Phe752Val) c.931T>G (p.Phe311Val) | |
| 3 | g.38894841A>G | CA352174957 | SCN11A | c.2527T>C (p.Phe843Leu) c.2347T>C (p.Phe783Leu) c.2571T>C (n.2571T>C) c.2146T>C (p.Phe716Leu) c.1864T>C (p.Phe622Leu) c.1075T>C (p.Phe359Leu) c.2902T>C (p.Phe968Leu) c.2329T>C (p.Phe777Leu) c.2254T>C (p.Phe752Leu) c.931T>C (p.Phe311Leu) | |
| 3 | g.38894841A>T | CA352174958 | SCN11A | c.2527T>A (p.Phe843Ile) c.2347T>A (p.Phe783Ile) c.2571T>A (n.2571T>A) c.2146T>A (p.Phe716Ile) c.1864T>A (p.Phe622Ile) c.1075T>A (p.Phe359Ile) c.2902T>A (p.Phe968Ile) c.2329T>A (p.Phe777Ile) c.2254T>A (p.Phe752Ile) c.931T>A (p.Phe311Ile) | |
| 3 | g.38894842A>C | CA433336156 | SCN11A | c.2526T>G (p.Ala842=) c.2346T>G (p.Ala782=) c.2570T>G (n.2570T>G) c.2145T>G (p.Ala715=) c.1863T>G (p.Ala621=) c.1074T>G (p.Ala358=) c.2901T>G (p.Ala967=) c.2328T>G (p.Ala776=) c.2253T>G (p.Ala751=) c.930T>G (p.Ala310=) | |
| 3 | g.38894842A>G | CA433336157 | SCN11A | c.2526T>C (p.Ala842=) c.2346T>C (p.Ala782=) c.2570T>C (n.2570T>C) c.2145T>C (p.Ala715=) c.1863T>C (p.Ala621=) c.1074T>C (p.Ala358=) c.2901T>C (p.Ala967=) c.2328T>C (p.Ala776=) c.2253T>C (p.Ala751=) c.930T>C (p.Ala310=) | |
| 3 | g.38894842A>T | CA433336158 | SCN11A | c.2526T>A (p.Ala842=) c.2346T>A (p.Ala782=) c.2570T>A (n.2570T>A) c.2145T>A (p.Ala715=) c.1863T>A (p.Ala621=) c.1074T>A (p.Ala358=) c.2901T>A (p.Ala967=) c.2328T>A (p.Ala776=) c.2253T>A (p.Ala751=) c.930T>A (p.Ala310=) | |
| 3 | g.38894843G>A | CA352174961 | SCN11A | c.2525C>T (p.Ala842Val) c.2345C>T (p.Ala782Val) c.2569C>T (n.2569C>T) c.2144C>T (p.Ala715Val) c.1862C>T (p.Ala621Val) c.1073C>T (p.Ala358Val) c.2900C>T (p.Ala967Val) c.2327C>T (p.Ala776Val) c.2252C>T (p.Ala751Val) c.929C>T (p.Ala310Val) | gnomAD v4 COSMIC |
| 3 | g.38894843G>C | CA352174960 | SCN11A | c.2525C>G (p.Ala842Gly) c.2345C>G (p.Ala782Gly) c.2569C>G (n.2569C>G) c.2144C>G (p.Ala715Gly) c.1862C>G (p.Ala621Gly) c.1073C>G (p.Ala358Gly) c.2900C>G (p.Ala967Gly) c.2327C>G (p.Ala776Gly) c.2252C>G (p.Ala751Gly) c.929C>G (p.Ala310Gly) | |
| 3 | g.38894843G>T | CA352174959 | SCN11A | c.2525C>A (p.Ala842Asp) c.2345C>A (p.Ala782Asp) c.2569C>A (n.2569C>A) c.2144C>A (p.Ala715Asp) c.1862C>A (p.Ala621Asp) c.1073C>A (p.Ala358Asp) c.2900C>A (p.Ala967Asp) c.2327C>A (p.Ala776Asp) c.2252C>A (p.Ala751Asp) c.929C>A (p.Ala310Asp) | |
| 3 | g.38894844C>A | CA352174962 | SCN11A | c.2524G>T (p.Ala842Ser) c.2344G>T (p.Ala782Ser) c.2568G>T (n.2568G>T) c.2143G>T (p.Ala715Ser) c.1861G>T (p.Ala621Ser) c.1072G>T (p.Ala358Ser) c.2899G>T (p.Ala967Ser) c.2326G>T (p.Ala776Ser) c.2251G>T (p.Ala751Ser) c.928G>T (p.Ala310Ser) | |
| 3 | g.38894844C= | CA1358718252 | SCN11A | c.2524G= (p.Ala842=) c.2344G= (p.Ala782=) c.2568G= (n.2568G=) c.2143G= (p.Ala715=) c.1861G= (p.Ala621=) c.1072G= (p.Ala358=) c.2899G= (p.Ala967=) c.2326G= (p.Ala776=) c.2251G= (p.Ala751=) c.928G= (p.Ala310=) | |
| 3 | g.38894844C>G | CA352174963 | SCN11A | c.2524G>C (p.Ala842Pro) c.2344G>C (p.Ala782Pro) c.2568G>C (n.2568G>C) c.2143G>C (p.Ala715Pro) c.1861G>C (p.Ala621Pro) c.1072G>C (p.Ala358Pro) c.2899G>C (p.Ala967Pro) c.2326G>C (p.Ala776Pro) c.2251G>C (p.Ala751Pro) c.928G>C (p.Ala310Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894844C>T | CA352174964 | SCN11A | c.2524G>A (p.Ala842Thr) c.2344G>A (p.Ala782Thr) c.2568G>A (n.2568G>A) c.2143G>A (p.Ala715Thr) c.1861G>A (p.Ala621Thr) c.1072G>A (p.Ala358Thr) c.2899G>A (p.Ala967Thr) c.2326G>A (p.Ala776Thr) c.2251G>A (p.Ala751Thr) c.928G>A (p.Ala310Thr) | gnomAD v4 |
| 3 | g.38894845C>A | CA433336160 | SCN11A | c.2523G>T (p.Arg841=) c.2343G>T (p.Arg781=) c.2567G>T (n.2567G>T) c.2142G>T (p.Arg714=) c.1860G>T (p.Arg620=) c.1071G>T (p.Arg357=) c.2898G>T (p.Arg966=) c.2325G>T (p.Arg775=) c.2250G>T (p.Arg750=) c.927G>T (p.Arg309=) | |
| 3 | g.38894845C= | CA1358718253 | SCN11A | c.2523G= (p.Arg841=) c.2343G= (p.Arg781=) c.2567G= (n.2567G=) c.2142G= (p.Arg714=) c.1860G= (p.Arg620=) c.1071G= (p.Arg357=) c.2898G= (p.Arg966=) c.2325G= (p.Arg775=) c.2250G= (p.Arg750=) c.927G= (p.Arg309=) | |
| 3 | g.38894845C>G | CA433336161 | SCN11A | c.2523G>C (p.Arg841=) c.2343G>C (p.Arg781=) c.2567G>C (n.2567G>C) c.2142G>C (p.Arg714=) c.1860G>C (p.Arg620=) c.1071G>C (p.Arg357=) c.2898G>C (p.Arg966=) c.2325G>C (p.Arg775=) c.2250G>C (p.Arg750=) c.927G>C (p.Arg309=) | |
| 3 | g.38894845C>T | CA433336162 | SCN11A | c.2523G>A (p.Arg841=) c.2343G>A (p.Arg781=) c.2567G>A (n.2567G>A) c.2142G>A (p.Arg714=) c.1860G>A (p.Arg620=) c.1071G>A (p.Arg357=) c.2898G>A (p.Arg966=) c.2325G>A (p.Arg775=) c.2250G>A (p.Arg750=) c.927G>A (p.Arg309=) | dbSNP gnomAD v4 |
| 3 | g.38894846C>A | CA352174965 | SCN11A | c.2522G>T (p.Arg841Leu) c.2342G>T (p.Arg781Leu) c.2566G>T (n.2566G>T) c.2141G>T (p.Arg714Leu) c.1859G>T (p.Arg620Leu) c.1070G>T (p.Arg357Leu) c.2897G>T (p.Arg966Leu) c.2324G>T (p.Arg775Leu) c.2249G>T (p.Arg750Leu) c.926G>T (p.Arg309Leu) | |
| 3 | g.38894846C= | CA1358718254 | SCN11A | c.2522G= (p.Arg841=) c.2342G= (p.Arg781=) c.2566G= (n.2566G=) c.2141G= (p.Arg714=) c.1859G= (p.Arg620=) c.1070G= (p.Arg357=) c.2897G= (p.Arg966=) c.2324G= (p.Arg775=) c.2249G= (p.Arg750=) c.926G= (p.Arg309=) | |
| 3 | g.38894846C>G | CA352174966 | SCN11A | c.2522G>C (p.Arg841Pro) c.2342G>C (p.Arg781Pro) c.2566G>C (n.2566G>C) c.2141G>C (p.Arg714Pro) c.1859G>C (p.Arg620Pro) c.1070G>C (p.Arg357Pro) c.2897G>C (p.Arg966Pro) c.2324G>C (p.Arg775Pro) c.2249G>C (p.Arg750Pro) c.926G>C (p.Arg309Pro) | |
| 3 | g.38894846C>T | CA2322022 | SCN11A | c.2522G>A (p.Arg841Gln) c.2342G>A (p.Arg781Gln) c.2566G>A (n.2566G>A) c.2141G>A (p.Arg714Gln) c.1859G>A (p.Arg620Gln) c.1070G>A (p.Arg357Gln) c.2897G>A (p.Arg966Gln) c.2324G>A (p.Arg775Gln) c.2249G>A (p.Arg750Gln) c.926G>A (p.Arg309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894847G>A | CA2322023 | SCN11A | c.2521C>T (p.Arg841Trp) c.2341C>T (p.Arg781Trp) c.2565C>T (n.2565C>T) c.2140C>T (p.Arg714Trp) c.1858C>T (p.Arg620Trp) c.1069C>T (p.Arg357Trp) c.2896C>T (p.Arg966Trp) c.2323C>T (p.Arg775Trp) c.2248C>T (p.Arg750Trp) c.925C>T (p.Arg309Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894847G>C | CA352174967 | SCN11A | c.2521C>G (p.Arg841Gly) c.2341C>G (p.Arg781Gly) c.2565C>G (n.2565C>G) c.2140C>G (p.Arg714Gly) c.1858C>G (p.Arg620Gly) c.1069C>G (p.Arg357Gly) c.2896C>G (p.Arg966Gly) c.2323C>G (p.Arg775Gly) c.2248C>G (p.Arg750Gly) c.925C>G (p.Arg309Gly) | |
| 3 | g.38894847G= | CA1358718255 | SCN11A | c.2521C= (p.Arg841=) c.2341C= (p.Arg781=) c.2565C= (n.2565C=) c.2140C= (p.Arg714=) c.1858C= (p.Arg620=) c.1069C= (p.Arg357=) c.2896C= (p.Arg966=) c.2323C= (p.Arg775=) c.2248C= (p.Arg750=) c.925C= (p.Arg309=) | |
| 3 | g.38894847G>T | CA433336165 | SCN11A | c.2521C>A (p.Arg841=) c.2341C>A (p.Arg781=) c.2565C>A (n.2565C>A) c.2140C>A (p.Arg714=) c.1858C>A (p.Arg620=) c.1069C>A (p.Arg357=) c.2896C>A (p.Arg966=) c.2323C>A (p.Arg775=) c.2248C>A (p.Arg750=) c.925C>A (p.Arg309=) | |
| 3 | g.38894848G>A | CA433336167 | SCN11A | c.2520C>T (p.Arg840=) c.2340C>T (p.Arg780=) c.2564C>T (n.2564C>T) c.2139C>T (p.Arg713=) c.1857C>T (p.Arg619=) c.1068C>T (p.Arg356=) c.2895C>T (p.Arg965=) c.2322C>T (p.Arg774=) c.2247C>T (p.Arg749=) c.924C>T (p.Arg308=) | gnomAD v4 |
| 3 | g.38894848G>C | CA433336168 | SCN11A | c.2520C>G (p.Arg840=) c.2340C>G (p.Arg780=) c.2564C>G (n.2564C>G) c.2139C>G (p.Arg713=) c.1857C>G (p.Arg619=) c.1068C>G (p.Arg356=) c.2895C>G (p.Arg965=) c.2322C>G (p.Arg774=) c.2247C>G (p.Arg749=) c.924C>G (p.Arg308=) | |
| 3 | g.38894848G>T | CA433336166 | SCN11A | c.2520C>A (p.Arg840=) c.2340C>A (p.Arg780=) c.2564C>A (n.2564C>A) c.2139C>A (p.Arg713=) c.1857C>A (p.Arg619=) c.1068C>A (p.Arg356=) c.2895C>A (p.Arg965=) c.2322C>A (p.Arg774=) c.2247C>A (p.Arg749=) c.924C>A (p.Arg308=) | |
| 3 | g.38894849C>A | CA2322025 | SCN11A | c.2519G>T (p.Arg840Leu) c.2339G>T (p.Arg780Leu) c.2563G>T (n.2563G>T) c.2138G>T (p.Arg713Leu) c.1856G>T (p.Arg619Leu) c.1067G>T (p.Arg356Leu) c.2894G>T (p.Arg965Leu) c.2321G>T (p.Arg774Leu) c.2246G>T (p.Arg749Leu) c.923G>T (p.Arg308Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894849C= | CA1358718256 | SCN11A | c.2519G= (p.Arg840=) c.2339G= (p.Arg780=) c.2563G= (n.2563G=) c.2138G= (p.Arg713=) c.1856G= (p.Arg619=) c.1067G= (p.Arg356=) c.2894G= (p.Arg965=) c.2321G= (p.Arg774=) c.2246G= (p.Arg749=) c.923G= (p.Arg308=) | |
| 3 | g.38894849C>G | CA352174968 | SCN11A | c.2519G>C (p.Arg840Pro) c.2339G>C (p.Arg780Pro) c.2563G>C (n.2563G>C) c.2138G>C (p.Arg713Pro) c.1856G>C (p.Arg619Pro) c.1067G>C (p.Arg356Pro) c.2894G>C (p.Arg965Pro) c.2321G>C (p.Arg774Pro) c.2246G>C (p.Arg749Pro) c.923G>C (p.Arg308Pro) | |
| 3 | g.38894849C>T | CA2322024 | SCN11A | c.2519G>A (p.Arg840His) c.2339G>A (p.Arg780His) c.2563G>A (n.2563G>A) c.2138G>A (p.Arg713His) c.1856G>A (p.Arg619His) c.1067G>A (p.Arg356His) c.2894G>A (p.Arg965His) c.2321G>A (p.Arg774His) c.2246G>A (p.Arg749His) c.923G>A (p.Arg308His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894850G>A | CA2322026 | SCN11A | c.2518C>T (p.Arg840Cys) c.2338C>T (p.Arg780Cys) c.2562C>T (n.2562C>T) c.2137C>T (p.Arg713Cys) c.1855C>T (p.Arg619Cys) c.1066C>T (p.Arg356Cys) c.2893C>T (p.Arg965Cys) c.2320C>T (p.Arg774Cys) c.2245C>T (p.Arg749Cys) c.922C>T (p.Arg308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38894850G>C | CA352174969 | SCN11A | c.2518C>G (p.Arg840Gly) c.2338C>G (p.Arg780Gly) c.2562C>G (n.2562C>G) c.2137C>G (p.Arg713Gly) c.1855C>G (p.Arg619Gly) c.1066C>G (p.Arg356Gly) c.2893C>G (p.Arg965Gly) c.2320C>G (p.Arg774Gly) c.2245C>G (p.Arg749Gly) c.922C>G (p.Arg308Gly) | |
| 3 | g.38894850G= | CA1358718257 | SCN11A | c.2518C= (p.Arg840=) c.2338C= (p.Arg780=) c.2562C= (n.2562C=) c.2137C= (p.Arg713=) c.1855C= (p.Arg619=) c.1066C= (p.Arg356=) c.2893C= (p.Arg965=) c.2320C= (p.Arg774=) c.2245C= (p.Arg749=) c.922C= (p.Arg308=) | |
| 3 | g.38894850G>T | CA352174970 | SCN11A | c.2518C>A (p.Arg840Ser) c.2338C>A (p.Arg780Ser) c.2562C>A (n.2562C>A) c.2137C>A (p.Arg713Ser) c.1855C>A (p.Arg619Ser) c.1066C>A (p.Arg356Ser) c.2893C>A (p.Arg965Ser) c.2320C>A (p.Arg774Ser) c.2245C>A (p.Arg749Ser) c.922C>A (p.Arg308Ser) | |
| 3 | g.38894851G>A | CA433336169 | SCN11A | c.2517C>T (p.Phe839=) c.2337C>T (p.Phe779=) c.2561C>T (n.2561C>T) c.2136C>T (p.Phe712=) c.1854C>T (p.Phe618=) c.1065C>T (p.Phe355=) c.2892C>T (p.Phe964=) c.2319C>T (p.Phe773=) c.2244C>T (p.Phe748=) c.921C>T (p.Phe307=) | ClinVar dbSNP |
| 3 | g.38894851G>C | CA352174972 | SCN11A | c.2517C>G (p.Phe839Leu) c.2337C>G (p.Phe779Leu) c.2561C>G (n.2561C>G) c.2136C>G (p.Phe712Leu) c.1854C>G (p.Phe618Leu) c.1065C>G (p.Phe355Leu) c.2892C>G (p.Phe964Leu) c.2319C>G (p.Phe773Leu) c.2244C>G (p.Phe748Leu) c.921C>G (p.Phe307Leu) | ClinVar dbSNP |
| 3 | g.38894851G= | CA1358718258 | SCN11A | c.2517C= (p.Phe839=) c.2337C= (p.Phe779=) c.2561C= (n.2561C=) c.2136C= (p.Phe712=) c.1854C= (p.Phe618=) c.1065C= (p.Phe355=) c.2892C= (p.Phe964=) c.2319C= (p.Phe773=) c.2244C= (p.Phe748=) c.921C= (p.Phe307=) | |
| 3 | g.38894851G>T | CA352174971 | SCN11A | c.2517C>A (p.Phe839Leu) c.2337C>A (p.Phe779Leu) c.2561C>A (n.2561C>A) c.2136C>A (p.Phe712Leu) c.1854C>A (p.Phe618Leu) c.1065C>A (p.Phe355Leu) c.2892C>A (p.Phe964Leu) c.2319C>A (p.Phe773Leu) c.2244C>A (p.Phe748Leu) c.921C>A (p.Phe307Leu) | |
| 3 | g.38894852A= | CA1358718259 | SCN11A | c.2516T= (p.Phe839=) c.2336T= (p.Phe779=) c.2560T= (n.2560T=) c.2135T= (p.Phe712=) c.1853T= (p.Phe618=) c.1064T= (p.Phe355=) c.2891T= (p.Phe964=) c.2318T= (p.Phe773=) c.2243T= (p.Phe748=) c.920T= (p.Phe307=) | |
| 3 | g.38894852A>C | CA352174973 | SCN11A | c.2516T>G (p.Phe839Cys) c.2336T>G (p.Phe779Cys) c.2560T>G (n.2560T>G) c.2135T>G (p.Phe712Cys) c.1853T>G (p.Phe618Cys) c.1064T>G (p.Phe355Cys) c.2891T>G (p.Phe964Cys) c.2318T>G (p.Phe773Cys) c.2243T>G (p.Phe748Cys) c.920T>G (p.Phe307Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894852A>G | CA352174974 | SCN11A | c.2516T>C (p.Phe839Ser) c.2336T>C (p.Phe779Ser) c.2560T>C (n.2560T>C) c.2135T>C (p.Phe712Ser) c.1853T>C (p.Phe618Ser) c.1064T>C (p.Phe355Ser) c.2891T>C (p.Phe964Ser) c.2318T>C (p.Phe773Ser) c.2243T>C (p.Phe748Ser) c.920T>C (p.Phe307Ser) | gnomAD v4 |
| 3 | g.38894852A>T | CA352174975 | SCN11A | c.2516T>A (p.Phe839Tyr) c.2336T>A (p.Phe779Tyr) c.2560T>A (n.2560T>A) c.2135T>A (p.Phe712Tyr) c.1853T>A (p.Phe618Tyr) c.1064T>A (p.Phe355Tyr) c.2891T>A (p.Phe964Tyr) c.2318T>A (p.Phe773Tyr) c.2243T>A (p.Phe748Tyr) c.920T>A (p.Phe307Tyr) | |
| 3 | g.38894853A>C | CA352174976 | SCN11A | c.2515T>G (p.Phe839Val) c.2335T>G (p.Phe779Val) c.2559T>G (n.2559T>G) c.2134T>G (p.Phe712Val) c.1852T>G (p.Phe618Val) c.1063T>G (p.Phe355Val) c.2890T>G (p.Phe964Val) c.2317T>G (p.Phe773Val) c.2242T>G (p.Phe748Val) c.919T>G (p.Phe307Val) | |
| 3 | g.38894853A>G | CA352174977 | SCN11A | c.2515T>C (p.Phe839Leu) c.2335T>C (p.Phe779Leu) c.2559T>C (n.2559T>C) c.2134T>C (p.Phe712Leu) c.1852T>C (p.Phe618Leu) c.1063T>C (p.Phe355Leu) c.2890T>C (p.Phe964Leu) c.2317T>C (p.Phe773Leu) c.2242T>C (p.Phe748Leu) c.919T>C (p.Phe307Leu) | |
| 3 | g.38894853A>T | CA352174978 | SCN11A | c.2515T>A (p.Phe839Ile) c.2335T>A (p.Phe779Ile) c.2559T>A (n.2559T>A) c.2134T>A (p.Phe712Ile) c.1852T>A (p.Phe618Ile) c.1063T>A (p.Phe355Ile) c.2890T>A (p.Phe964Ile) c.2317T>A (p.Phe773Ile) c.2242T>A (p.Phe748Ile) c.919T>A (p.Phe307Ile) | |
| 3 | g.38894854T>A | CA433336170 | SCN11A | c.2514A>T (p.Arg838=) c.2334A>T (p.Arg778=) c.2558A>T (n.2558A>T) c.2133A>T (p.Arg711=) c.1851A>T (p.Arg617=) c.1062A>T (p.Arg354=) c.2889A>T (p.Arg963=) c.2316A>T (p.Arg772=) c.2241A>T (p.Arg747=) c.918A>T (p.Arg306=) | gnomAD v4 |
| 3 | g.38894854T>C | CA433336171 | SCN11A | c.2514A>G (p.Arg838=) c.2334A>G (p.Arg778=) c.2558A>G (n.2558A>G) c.2133A>G (p.Arg711=) c.1851A>G (p.Arg617=) c.1062A>G (p.Arg354=) c.2889A>G (p.Arg963=) c.2316A>G (p.Arg772=) c.2241A>G (p.Arg747=) c.918A>G (p.Arg306=) | |
| 3 | g.38894854T>G | CA433336173 | SCN11A | c.2514A>C (p.Arg838=) c.2334A>C (p.Arg778=) c.2558A>C (n.2558A>C) c.2133A>C (p.Arg711=) c.1851A>C (p.Arg617=) c.1062A>C (p.Arg354=) c.2889A>C (p.Arg963=) c.2316A>C (p.Arg772=) c.2241A>C (p.Arg747=) c.918A>C (p.Arg306=) |