Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38894852A=CA1358718259SCN11Ac.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=)
3g.38894852A>CCA352174973SCN11Ac.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
3g.38894852A>GCA352174974SCN11Ac.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
3g.38894852A>TCA352174975SCN11Ac.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)
3g.38894853A>CCA352174976SCN11Ac.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)
3g.38894853A>GCA352174977SCN11Ac.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)
3g.38894853A>TCA352174978SCN11Ac.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)
3g.38894854T>ACA433336170SCN11Ac.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
3g.38894854T>CCA433336171SCN11Ac.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=)
3g.38894854T>GCA433336173SCN11Ac.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=)
3g.38894855C>ACA352174979SCN11Ac.2513G>T (p.Arg838Leu)
c.2333G>T (p.Arg778Leu)
c.2557G>T (n.2557G>T)
c.2132G>T (p.Arg711Leu)
c.1850G>T (p.Arg617Leu)
c.1061G>T (p.Arg354Leu)
c.2888G>T (p.Arg963Leu)
c.2315G>T (p.Arg772Leu)
c.2240G>T (p.Arg747Leu)
c.917G>T (p.Arg306Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.38894855C=CA1358718260SCN11Ac.2513G= (p.Arg838=)
c.2333G= (p.Arg778=)
c.2557G= (n.2557G=)
c.2132G= (p.Arg711=)
c.1850G= (p.Arg617=)
c.1061G= (p.Arg354=)
c.2888G= (p.Arg963=)
c.2315G= (p.Arg772=)
c.2240G= (p.Arg747=)
c.917G= (p.Arg306=)
3g.38894855C>GCA352174980SCN11Ac.2513G>C (p.Arg838Pro)
c.2333G>C (p.Arg778Pro)
c.2557G>C (n.2557G>C)
c.2132G>C (p.Arg711Pro)
c.1850G>C (p.Arg617Pro)
c.1061G>C (p.Arg354Pro)
c.2888G>C (p.Arg963Pro)
c.2315G>C (p.Arg772Pro)
c.2240G>C (p.Arg747Pro)
c.917G>C (p.Arg306Pro)
3g.38894855C>TCA2322027SCN11Ac.2513G>A (p.Arg838Gln)
c.2333G>A (p.Arg778Gln)
c.2557G>A (n.2557G>A)
c.2132G>A (p.Arg711Gln)
c.1850G>A (p.Arg617Gln)
c.1061G>A (p.Arg354Gln)
c.2888G>A (p.Arg963Gln)
c.2315G>A (p.Arg772Gln)
c.2240G>A (p.Arg747Gln)
c.917G>A (p.Arg306Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894856G>ACA2322028SCN11Ac.2512C>T (p.Arg838Ter)
c.2332C>T (p.Arg778Ter)
c.2556C>T (n.2556C>T)
c.2131C>T (p.Arg711Ter)
c.1849C>T (p.Arg617Ter)
c.1060C>T (p.Arg354Ter)
c.2887C>T (p.Arg963Ter)
c.2314C>T (p.Arg772Ter)
c.2239C>T (p.Arg747Ter)
c.916C>T (p.Arg306Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894856G>CCA352174981SCN11Ac.2512C>G (p.Arg838Gly)
c.2332C>G (p.Arg778Gly)
c.2556C>G (n.2556C>G)
c.2131C>G (p.Arg711Gly)
c.1849C>G (p.Arg617Gly)
c.1060C>G (p.Arg354Gly)
c.2887C>G (p.Arg963Gly)
c.2314C>G (p.Arg772Gly)
c.2239C>G (p.Arg747Gly)
c.916C>G (p.Arg306Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.38894856G=CA1358718261SCN11Ac.2512C= (p.Arg838=)
c.2332C= (p.Arg778=)
c.2556C= (n.2556C=)
c.2131C= (p.Arg711=)
c.1849C= (p.Arg617=)
c.1060C= (p.Arg354=)
c.2887C= (p.Arg963=)
c.2314C= (p.Arg772=)
c.2239C= (p.Arg747=)
c.916C= (p.Arg306=)
3g.38894856G>TCA433336175SCN11Ac.2512C>A (p.Arg838=)
c.2332C>A (p.Arg778=)
c.2556C>A (n.2556C>A)
c.2131C>A (p.Arg711=)
c.1849C>A (p.Arg617=)
c.1060C>A (p.Arg354=)
c.2887C>A (p.Arg963=)
c.2314C>A (p.Arg772=)
c.2239C>A (p.Arg747=)
c.916C>A (p.Arg306=)
 gnomAD v4
3g.38894857A=CA1358718262SCN11Ac.2511T= (p.Asp837=)
c.2331T= (p.Asp777=)
c.2555T= (n.2555T=)
c.2130T= (p.Asp710=)
c.1848T= (p.Asp616=)
c.1059T= (p.Asp353=)
c.2886T= (p.Asp962=)
c.2313T= (p.Asp771=)
c.2238T= (p.Asp746=)
c.915T= (p.Asp305=)
3g.38894857A>CCA352174982SCN11Ac.2511T>G (p.Asp837Glu)
c.2331T>G (p.Asp777Glu)
c.2555T>G (n.2555T>G)
c.2130T>G (p.Asp710Glu)
c.1848T>G (p.Asp616Glu)
c.1059T>G (p.Asp353Glu)
c.2886T>G (p.Asp962Glu)
c.2313T>G (p.Asp771Glu)
c.2238T>G (p.Asp746Glu)
c.915T>G (p.Asp305Glu)
3g.38894857A>GCA433336176SCN11Ac.2511T>C (p.Asp837=)
c.2331T>C (p.Asp777=)
c.2555T>C (n.2555T>C)
c.2130T>C (p.Asp710=)
c.1848T>C (p.Asp616=)
c.1059T>C (p.Asp353=)
c.2886T>C (p.Asp962=)
c.2313T>C (p.Asp771=)
c.2238T>C (p.Asp746=)
c.915T>C (p.Asp305=)
 dbSNP
3g.38894857A>TCA352174983SCN11Ac.2511T>A (p.Asp837Glu)
c.2331T>A (p.Asp777Glu)
c.2555T>A (n.2555T>A)
c.2130T>A (p.Asp710Glu)
c.1848T>A (p.Asp616Glu)
c.1059T>A (p.Asp353Glu)
c.2886T>A (p.Asp962Glu)
c.2313T>A (p.Asp771Glu)
c.2238T>A (p.Asp746Glu)
c.915T>A (p.Asp305Glu)
3g.38894858T>ACA352174984SCN11Ac.2510A>T (p.Asp837Val)
c.2330A>T (p.Asp777Val)
c.2554A>T (n.2554A>T)
c.2129A>T (p.Asp710Val)
c.1847A>T (p.Asp616Val)
c.1058A>T (p.Asp353Val)
c.2885A>T (p.Asp962Val)
c.2312A>T (p.Asp771Val)
c.2237A>T (p.Asp746Val)
c.914A>T (p.Asp305Val)
3g.38894858T>CCA352174986SCN11Ac.2510A>G (p.Asp837Gly)
c.2330A>G (p.Asp777Gly)
c.2554A>G (n.2554A>G)
c.2129A>G (p.Asp710Gly)
c.1847A>G (p.Asp616Gly)
c.1058A>G (p.Asp353Gly)
c.2885A>G (p.Asp962Gly)
c.2312A>G (p.Asp771Gly)
c.2237A>G (p.Asp746Gly)
c.914A>G (p.Asp305Gly)
 gnomAD v4
3g.38894858T>GCA352174985SCN11Ac.2510A>C (p.Asp837Ala)
c.2330A>C (p.Asp777Ala)
c.2554A>C (n.2554A>C)
c.2129A>C (p.Asp710Ala)
c.1847A>C (p.Asp616Ala)
c.1058A>C (p.Asp353Ala)
c.2885A>C (p.Asp962Ala)
c.2312A>C (p.Asp771Ala)
c.2237A>C (p.Asp746Ala)
c.914A>C (p.Asp305Ala)
3g.38894859C>ACA352174987SCN11Ac.2509G>T (p.Asp837Tyr)
c.2329G>T (p.Asp777Tyr)
c.2553G>T (n.2553G>T)
c.2128G>T (p.Asp710Tyr)
c.1846G>T (p.Asp616Tyr)
c.1057G>T (p.Asp353Tyr)
c.2884G>T (p.Asp962Tyr)
c.2311G>T (p.Asp771Tyr)
c.2236G>T (p.Asp746Tyr)
c.913G>T (p.Asp305Tyr)
3g.38894859C=CA1358718263SCN11Ac.2509G= (p.Asp837=)
c.2329G= (p.Asp777=)
c.2553G= (n.2553G=)
c.2128G= (p.Asp710=)
c.1846G= (p.Asp616=)
c.1057G= (p.Asp353=)
c.2884G= (p.Asp962=)
c.2311G= (p.Asp771=)
c.2236G= (p.Asp746=)
c.913G= (p.Asp305=)
3g.38894859C>GCA352174988SCN11Ac.2509G>C (p.Asp837His)
c.2329G>C (p.Asp777His)
c.2553G>C (n.2553G>C)
c.2128G>C (p.Asp710His)
c.1846G>C (p.Asp616His)
c.1057G>C (p.Asp353His)
c.2884G>C (p.Asp962His)
c.2311G>C (p.Asp771His)
c.2236G>C (p.Asp746His)
c.913G>C (p.Asp305His)
 dbSNP gnomAD v2 gnomAD v4
3g.38894859C>TCA352174989SCN11Ac.2509G>A (p.Asp837Asn)
c.2329G>A (p.Asp777Asn)
c.2553G>A (n.2553G>A)
c.2128G>A (p.Asp710Asn)
c.1846G>A (p.Asp616Asn)
c.1057G>A (p.Asp353Asn)
c.2884G>A (p.Asp962Asn)
c.2311G>A (p.Asp771Asn)
c.2236G>A (p.Asp746Asn)
c.913G>A (p.Asp305Asn)
3g.38894860_38894869delCA2577554818SCN11Ac.2500_2509del (p.Leu834IlefsTer10)
c.2320_2329del (p.Leu774IlefsTer10)
c.2544_2553del (n.2544_2553del)
c.2119_2128del (p.Leu707IlefsTer10)
c.1837_1846del (p.Leu613IlefsTer10)
c.1048_1057del (p.Leu350IlefsTer10)
c.2875_2884del (p.Leu959IlefsTer10)
c.2302_2311del (p.Leu768IlefsTer10)
c.2227_2236del (p.Leu743IlefsTer10)
c.904_913del (p.Leu302IlefsTer10)
3g.38894860C>ACA72997821SCN11Ac.2508G>T (p.Leu836=)
c.2328G>T (p.Leu776=)
c.2552G>T (n.2552G>T)
c.2127G>T (p.Leu709=)
c.1845G>T (p.Leu615=)
c.1056G>T (p.Leu352=)
c.2883G>T (p.Leu961=)
c.2310G>T (p.Leu770=)
c.2235G>T (p.Leu745=)
c.912G>T (p.Leu304=)
 dbSNP
3g.38894860C=CA1358718264SCN11Ac.2508G= (p.Leu836=)
c.2328G= (p.Leu776=)
c.2552G= (n.2552G=)
c.2127G= (p.Leu709=)
c.1845G= (p.Leu615=)
c.1056G= (p.Leu352=)
c.2883G= (p.Leu961=)
c.2310G= (p.Leu770=)
c.2235G= (p.Leu745=)
c.912G= (p.Leu304=)
3g.38894860C>GCA433336178SCN11Ac.2508G>C (p.Leu836=)
c.2328G>C (p.Leu776=)
c.2552G>C (n.2552G>C)
c.2127G>C (p.Leu709=)
c.1845G>C (p.Leu615=)
c.1056G>C (p.Leu352=)
c.2883G>C (p.Leu961=)
c.2310G>C (p.Leu770=)
c.2235G>C (p.Leu745=)
c.912G>C (p.Leu304=)
3g.38894860C>TCA433336179SCN11Ac.2508G>A (p.Leu836=)
c.2328G>A (p.Leu776=)
c.2552G>A (n.2552G>A)
c.2127G>A (p.Leu709=)
c.1845G>A (p.Leu615=)
c.1056G>A (p.Leu352=)
c.2883G>A (p.Leu961=)
c.2310G>A (p.Leu770=)
c.2235G>A (p.Leu745=)
c.912G>A (p.Leu304=)
3g.38894861A>CCA352174990SCN11Ac.2507T>G (p.Leu836Arg)
c.2327T>G (p.Leu776Arg)
c.2551T>G (n.2551T>G)
c.2126T>G (p.Leu709Arg)
c.1844T>G (p.Leu615Arg)
c.1055T>G (p.Leu352Arg)
c.2882T>G (p.Leu961Arg)
c.2309T>G (p.Leu770Arg)
c.2234T>G (p.Leu745Arg)
c.911T>G (p.Leu304Arg)
3g.38894861A>GCA352174991SCN11Ac.2507T>C (p.Leu836Pro)
c.2327T>C (p.Leu776Pro)
c.2551T>C (n.2551T>C)
c.2126T>C (p.Leu709Pro)
c.1844T>C (p.Leu615Pro)
c.1055T>C (p.Leu352Pro)
c.2882T>C (p.Leu961Pro)
c.2309T>C (p.Leu770Pro)
c.2234T>C (p.Leu745Pro)
c.911T>C (p.Leu304Pro)
3g.38894861A>TCA352174992SCN11Ac.2507T>A (p.Leu836Gln)
c.2327T>A (p.Leu776Gln)
c.2551T>A (n.2551T>A)
c.2126T>A (p.Leu709Gln)
c.1844T>A (p.Leu615Gln)
c.1055T>A (p.Leu352Gln)
c.2882T>A (p.Leu961Gln)
c.2309T>A (p.Leu770Gln)
c.2234T>A (p.Leu745Gln)
c.911T>A (p.Leu304Gln)
3g.38894862G>ACA433336180SCN11Ac.2506C>T (p.Leu836=)
c.2326C>T (p.Leu776=)
c.2550C>T (n.2550C>T)
c.2125C>T (p.Leu709=)
c.1843C>T (p.Leu615=)
c.1054C>T (p.Leu352=)
c.2881C>T (p.Leu961=)
c.2308C>T (p.Leu770=)
c.2233C>T (p.Leu745=)
c.910C>T (p.Leu304=)
 gnomAD v4
3g.38894862G>CCA352174993SCN11Ac.2506C>G (p.Leu836Val)
c.2326C>G (p.Leu776Val)
c.2550C>G (n.2550C>G)
c.2125C>G (p.Leu709Val)
c.1843C>G (p.Leu615Val)
c.1054C>G (p.Leu352Val)
c.2881C>G (p.Leu961Val)
c.2308C>G (p.Leu770Val)
c.2233C>G (p.Leu745Val)
c.910C>G (p.Leu304Val)
3g.38894862G=CA1358718265SCN11Ac.2506C= (p.Leu836=)
c.2326C= (p.Leu776=)
c.2550C= (n.2550C=)
c.2125C= (p.Leu709=)
c.1843C= (p.Leu615=)
c.1054C= (p.Leu352=)
c.2881C= (p.Leu961=)
c.2308C= (p.Leu770=)
c.2233C= (p.Leu745=)
c.910C= (p.Leu304=)
3g.38894862G>TCA2322029SCN11Ac.2506C>A (p.Leu836Met)
c.2326C>A (p.Leu776Met)
c.2550C>A (n.2550C>A)
c.2125C>A (p.Leu709Met)
c.1843C>A (p.Leu615Met)
c.1054C>A (p.Leu352Met)
c.2881C>A (p.Leu961Met)
c.2308C>A (p.Leu770Met)
c.2233C>A (p.Leu745Met)
c.910C>A (p.Leu304Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894863delCA2665127322SCN11Ac.2505del (p.Leu836TrpfsTer11)
c.2325del (p.Leu776TrpfsTer11)
c.2549del (n.2549del)
c.2124del (p.Leu709TrpfsTer11)
c.1842del (p.Leu615TrpfsTer11)
c.1053del (p.Leu352TrpfsTer11)
c.2880del (p.Leu961TrpfsTer11)
c.2307del (p.Leu770TrpfsTer11)
c.2232del (p.Leu745TrpfsTer11)
c.909del (p.Leu304TrpfsTer11)
 gnomAD v4
3g.38894863T>ACA433336181SCN11Ac.2505A>T (p.Ala835=)
c.2325A>T (p.Ala775=)
c.2549A>T (n.2549A>T)
c.2124A>T (p.Ala708=)
c.1842A>T (p.Ala614=)
c.1053A>T (p.Ala351=)
c.2880A>T (p.Ala960=)
c.2307A>T (p.Ala769=)
c.2232A>T (p.Ala744=)
c.909A>T (p.Ala303=)
3g.38894863T>CCA433336182SCN11Ac.2505A>G (p.Ala835=)
c.2325A>G (p.Ala775=)
c.2549A>G (n.2549A>G)
c.2124A>G (p.Ala708=)
c.1842A>G (p.Ala614=)
c.1053A>G (p.Ala351=)
c.2880A>G (p.Ala960=)
c.2307A>G (p.Ala769=)
c.2232A>G (p.Ala744=)
c.909A>G (p.Ala303=)
3g.38894863T>GCA433336183SCN11Ac.2505A>C (p.Ala835=)
c.2325A>C (p.Ala775=)
c.2549A>C (n.2549A>C)
c.2124A>C (p.Ala708=)
c.1842A>C (p.Ala614=)
c.1053A>C (p.Ala351=)
c.2880A>C (p.Ala960=)
c.2307A>C (p.Ala769=)
c.2232A>C (p.Ala744=)
c.909A>C (p.Ala303=)
 ClinVar
3g.38894863_38894864insTAGCACTGGATCCA2665127323SCN11Ac.2504_2505insGATCCAGTGCTA (p.Ala836IlefsTer4)
c.2324_2325insGATCCAGTGCTA (p.Ala776IlefsTer4)
c.2548_2549insGATCCAGTGCTA (n.2548_2549insGATCCAGTGCTA)
c.2123_2124insGATCCAGTGCTA (p.Ala709IlefsTer4)
c.1841_1842insGATCCAGTGCTA (p.Ala615IlefsTer4)
c.1052_1053insGATCCAGTGCTA (p.Ala352IlefsTer4)
c.2879_2880insGATCCAGTGCTA (p.Ala961IlefsTer4)
c.2306_2307insGATCCAGTGCTA (p.Ala770IlefsTer4)
c.2231_2232insGATCCAGTGCTA (p.Ala745IlefsTer4)
c.908_909insGATCCAGTGCTA (p.Ala304IlefsTer4)
 gnomAD v4
3g.38894864G>ACA352174994SCN11Ac.2504C>T (p.Ala835Val)
c.2324C>T (p.Ala775Val)
c.2548C>T (n.2548C>T)
c.2123C>T (p.Ala708Val)
c.1841C>T (p.Ala614Val)
c.1052C>T (p.Ala351Val)
c.2879C>T (p.Ala960Val)
c.2306C>T (p.Ala769Val)
c.2231C>T (p.Ala744Val)
c.908C>T (p.Ala303Val)
 gnomAD v4
3g.38894864G>CCA352174995SCN11Ac.2504C>G (p.Ala835Gly)
c.2324C>G (p.Ala775Gly)
c.2548C>G (n.2548C>G)
c.2123C>G (p.Ala708Gly)
c.1841C>G (p.Ala614Gly)
c.1052C>G (p.Ala351Gly)
c.2879C>G (p.Ala960Gly)
c.2306C>G (p.Ala769Gly)
c.2231C>G (p.Ala744Gly)
c.908C>G (p.Ala303Gly)
3g.38894864G>TCA352174996SCN11Ac.2504C>A (p.Ala835Glu)
c.2324C>A (p.Ala775Glu)
c.2548C>A (n.2548C>A)
c.2123C>A (p.Ala708Glu)
c.1841C>A (p.Ala614Glu)
c.1052C>A (p.Ala351Glu)
c.2879C>A (p.Ala960Glu)
c.2306C>A (p.Ala769Glu)
c.2231C>A (p.Ala744Glu)
c.908C>A (p.Ala303Glu)
3g.38894865C>ACA352174999SCN11Ac.2503G>T (p.Ala835Ser)
c.2323G>T (p.Ala775Ser)
c.2547G>T (n.2547G>T)
c.2122G>T (p.Ala708Ser)
c.1840G>T (p.Ala614Ser)
c.1051G>T (p.Ala351Ser)
c.2878G>T (p.Ala960Ser)
c.2305G>T (p.Ala769Ser)
c.2230G>T (p.Ala744Ser)
c.907G>T (p.Ala303Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38894865C=CA1358718266SCN11Ac.2503G= (p.Ala835=)
c.2323G= (p.Ala775=)
c.2547G= (n.2547G=)
c.2122G= (p.Ala708=)
c.1840G= (p.Ala614=)
c.1051G= (p.Ala351=)
c.2878G= (p.Ala960=)
c.2305G= (p.Ala769=)
c.2230G= (p.Ala744=)
c.907G= (p.Ala303=)
3g.38894865C>GCA352174998SCN11Ac.2503G>C (p.Ala835Pro)
c.2323G>C (p.Ala775Pro)
c.2547G>C (n.2547G>C)
c.2122G>C (p.Ala708Pro)
c.1840G>C (p.Ala614Pro)
c.1051G>C (p.Ala351Pro)
c.2878G>C (p.Ala960Pro)
c.2305G>C (p.Ala769Pro)
c.2230G>C (p.Ala744Pro)
c.907G>C (p.Ala303Pro)
3g.38894865C>TCA352174997SCN11Ac.2503G>A (p.Ala835Thr)
c.2323G>A (p.Ala775Thr)
c.2547G>A (n.2547G>A)
c.2122G>A (p.Ala708Thr)
c.1840G>A (p.Ala614Thr)
c.1051G>A (p.Ala351Thr)
c.2878G>A (p.Ala960Thr)
c.2305G>A (p.Ala769Thr)
c.2230G>A (p.Ala744Thr)
c.907G>A (p.Ala303Thr)
 dbSNP
3g.38894866T>ACA352175000SCN11Ac.2502A>T (p.Leu834Phe)
c.2322A>T (p.Leu774Phe)
c.2546A>T (n.2546A>T)
c.2121A>T (p.Leu707Phe)
c.1839A>T (p.Leu613Phe)
c.1050A>T (p.Leu350Phe)
c.2877A>T (p.Leu959Phe)
c.2304A>T (p.Leu768Phe)
c.2229A>T (p.Leu743Phe)
c.906A>T (p.Leu302Phe)
3g.38894866T>CCA433336184SCN11Ac.2502A>G (p.Leu834=)
c.2322A>G (p.Leu774=)
c.2546A>G (n.2546A>G)
c.2121A>G (p.Leu707=)
c.1839A>G (p.Leu613=)
c.1050A>G (p.Leu350=)
c.2877A>G (p.Leu959=)
c.2304A>G (p.Leu768=)
c.2229A>G (p.Leu743=)
c.906A>G (p.Leu302=)
3g.38894866T>GCA352175001SCN11Ac.2502A>C (p.Leu834Phe)
c.2322A>C (p.Leu774Phe)
c.2546A>C (n.2546A>C)
c.2121A>C (p.Leu707Phe)
c.1839A>C (p.Leu613Phe)
c.1050A>C (p.Leu350Phe)
c.2877A>C (p.Leu959Phe)
c.2304A>C (p.Leu768Phe)
c.2229A>C (p.Leu743Phe)
c.906A>C (p.Leu302Phe)
 gnomAD v4
3g.38894867A=CA1358718267SCN11Ac.2501T= (p.Leu834=)
c.2321T= (p.Leu774=)
c.2545T= (n.2545T=)
c.2120T= (p.Leu707=)
c.1838T= (p.Leu613=)
c.1049T= (p.Leu350=)
c.2876T= (p.Leu959=)
c.2303T= (p.Leu768=)
c.2228T= (p.Leu743=)
c.905T= (p.Leu302=)
3g.38894867A>CCA352175002SCN11Ac.2501T>G (p.Leu834Ter)
c.2321T>G (p.Leu774Ter)
c.2545T>G (n.2545T>G)
c.2120T>G (p.Leu707Ter)
c.1838T>G (p.Leu613Ter)
c.1049T>G (p.Leu350Ter)
c.2876T>G (p.Leu959Ter)
c.2303T>G (p.Leu768Ter)
c.2228T>G (p.Leu743Ter)
c.905T>G (p.Leu302Ter)
 ClinVar dbSNP gnomAD v4
3g.38894867A>GCA352175003SCN11Ac.2501T>C (p.Leu834Ser)
c.2321T>C (p.Leu774Ser)
c.2545T>C (n.2545T>C)
c.2120T>C (p.Leu707Ser)
c.1838T>C (p.Leu613Ser)
c.1049T>C (p.Leu350Ser)
c.2876T>C (p.Leu959Ser)
c.2303T>C (p.Leu768Ser)
c.2228T>C (p.Leu743Ser)
c.905T>C (p.Leu302Ser)
3g.38894867A>TCA352175004SCN11Ac.2501T>A (p.Leu834Ter)
c.2321T>A (p.Leu774Ter)
c.2545T>A (n.2545T>A)
c.2120T>A (p.Leu707Ter)
c.1838T>A (p.Leu613Ter)
c.1049T>A (p.Leu350Ter)
c.2876T>A (p.Leu959Ter)
c.2303T>A (p.Leu768Ter)
c.2228T>A (p.Leu743Ter)
c.905T>A (p.Leu302Ter)
3g.38894868A>CCA352175005SCN11Ac.2500T>G (p.Leu834Val)
c.2320T>G (p.Leu774Val)
c.2544T>G (n.2544T>G)
c.2119T>G (p.Leu707Val)
c.1837T>G (p.Leu613Val)
c.1048T>G (p.Leu350Val)
c.2875T>G (p.Leu959Val)
c.2302T>G (p.Leu768Val)
c.2227T>G (p.Leu743Val)
c.904T>G (p.Leu302Val)
3g.38894868A>GCA433336185SCN11Ac.2500T>C (p.Leu834=)
c.2320T>C (p.Leu774=)
c.2544T>C (n.2544T>C)
c.2119T>C (p.Leu707=)
c.1837T>C (p.Leu613=)
c.1048T>C (p.Leu350=)
c.2875T>C (p.Leu959=)
c.2302T>C (p.Leu768=)
c.2227T>C (p.Leu743=)
c.904T>C (p.Leu302=)
3g.38894868A>TCA352175006SCN11Ac.2500T>A (p.Leu834Ile)
c.2320T>A (p.Leu774Ile)
c.2544T>A (n.2544T>A)
c.2119T>A (p.Leu707Ile)
c.1837T>A (p.Leu613Ile)
c.1048T>A (p.Leu350Ile)
c.2875T>A (p.Leu959Ile)
c.2302T>A (p.Leu768Ile)
c.2227T>A (p.Leu743Ile)
c.904T>A (p.Leu302Ile)
3g.38894869C>ACA352175007SCN11Ac.2499G>T (p.Gln833His)
c.2319G>T (p.Gln773His)
c.2543G>T (n.2543G>T)
c.2118G>T (p.Gln706His)
c.1836G>T (p.Gln612His)
c.1047G>T (p.Gln349His)
c.2874G>T (p.Gln958His)
c.2301G>T (p.Gln767His)
c.2226G>T (p.Gln742His)
c.903G>T (p.Gln301His)
3g.38894869C>GCA352175008SCN11Ac.2499G>C (p.Gln833His)
c.2319G>C (p.Gln773His)
c.2543G>C (n.2543G>C)
c.2118G>C (p.Gln706His)
c.1836G>C (p.Gln612His)
c.1047G>C (p.Gln349His)
c.2874G>C (p.Gln958His)
c.2301G>C (p.Gln767His)
c.2226G>C (p.Gln742His)
c.903G>C (p.Gln301His)
3g.38894869C>TCA433336189SCN11Ac.2499G>A (p.Gln833=)
c.2319G>A (p.Gln773=)
c.2543G>A (n.2543G>A)
c.2118G>A (p.Gln706=)
c.1836G>A (p.Gln612=)
c.1047G>A (p.Gln349=)
c.2874G>A (p.Gln958=)
c.2301G>A (p.Gln767=)
c.2226G>A (p.Gln742=)
c.903G>A (p.Gln301=)
3g.38894870T>ACA352175009SCN11Ac.2498A>T (p.Gln833Leu)
c.2318A>T (p.Gln773Leu)
c.2542A>T (n.2542A>T)
c.2117A>T (p.Gln706Leu)
c.1835A>T (p.Gln612Leu)
c.1046A>T (p.Gln349Leu)
c.2873A>T (p.Gln958Leu)
c.2300A>T (p.Gln767Leu)
c.2225A>T (p.Gln742Leu)
c.902A>T (p.Gln301Leu)
 gnomAD v4
3g.38894870T>CCA352175010SCN11Ac.2498A>G (p.Gln833Arg)
c.2318A>G (p.Gln773Arg)
c.2542A>G (n.2542A>G)
c.2117A>G (p.Gln706Arg)
c.1835A>G (p.Gln612Arg)
c.1046A>G (p.Gln349Arg)
c.2873A>G (p.Gln958Arg)
c.2300A>G (p.Gln767Arg)
c.2225A>G (p.Gln742Arg)
c.902A>G (p.Gln301Arg)
3g.38894870T>GCA352175011SCN11Ac.2498A>C (p.Gln833Pro)
c.2318A>C (p.Gln773Pro)
c.2542A>C (n.2542A>C)
c.2117A>C (p.Gln706Pro)
c.1835A>C (p.Gln612Pro)
c.1046A>C (p.Gln349Pro)
c.2873A>C (p.Gln958Pro)
c.2300A>C (p.Gln767Pro)
c.2225A>C (p.Gln742Pro)
c.902A>C (p.Gln301Pro)
3g.38894871G>ACA352175014SCN11Ac.2497C>T (p.Gln833Ter)
c.2317C>T (p.Gln773Ter)
c.2541C>T (n.2541C>T)
c.2116C>T (p.Gln706Ter)
c.1834C>T (p.Gln612Ter)
c.1045C>T (p.Gln349Ter)
c.2872C>T (p.Gln958Ter)
c.2299C>T (p.Gln767Ter)
c.2224C>T (p.Gln742Ter)
c.901C>T (p.Gln301Ter)
 COSMIC
3g.38894871G>CCA352175013SCN11Ac.2497C>G (p.Gln833Glu)
c.2317C>G (p.Gln773Glu)
c.2541C>G (n.2541C>G)
c.2116C>G (p.Gln706Glu)
c.1834C>G (p.Gln612Glu)
c.1045C>G (p.Gln349Glu)
c.2872C>G (p.Gln958Glu)
c.2299C>G (p.Gln767Glu)
c.2224C>G (p.Gln742Glu)
c.901C>G (p.Gln301Glu)
3g.38894871G>TCA352175012SCN11Ac.2497C>A (p.Gln833Lys)
c.2317C>A (p.Gln773Lys)
c.2541C>A (n.2541C>A)
c.2116C>A (p.Gln706Lys)
c.1834C>A (p.Gln612Lys)
c.1045C>A (p.Gln349Lys)
c.2872C>A (p.Gln958Lys)
c.2299C>A (p.Gln767Lys)
c.2224C>A (p.Gln742Lys)
c.901C>A (p.Gln301Lys)
3g.38894872G>ACA433336191SCN11Ac.2496C>T (p.Val832=)
c.2316C>T (p.Val772=)
c.2540C>T (n.2540C>T)
c.2115C>T (p.Val705=)
c.1833C>T (p.Val611=)
c.1044C>T (p.Val348=)
c.2871C>T (p.Val957=)
c.2298C>T (p.Val766=)
c.2223C>T (p.Val741=)
c.900C>T (p.Val300=)
3g.38894872G>CCA72997830SCN11Ac.2496C>G (p.Val832=)
c.2316C>G (p.Val772=)
c.2540C>G (n.2540C>G)
c.2115C>G (p.Val705=)
c.1833C>G (p.Val611=)
c.1044C>G (p.Val348=)
c.2871C>G (p.Val957=)
c.2298C>G (p.Val766=)
c.2223C>G (p.Val741=)
c.900C>G (p.Val300=)
 dbSNP
3g.38894872G=CA1358718268SCN11Ac.2496C= (p.Val832=)
c.2316C= (p.Val772=)
c.2540C= (n.2540C=)
c.2115C= (p.Val705=)
c.1833C= (p.Val611=)
c.1044C= (p.Val348=)
c.2871C= (p.Val957=)
c.2298C= (p.Val766=)
c.2223C= (p.Val741=)
c.900C= (p.Val300=)
3g.38894872G>TCA433336192SCN11Ac.2496C>A (p.Val832=)
c.2316C>A (p.Val772=)
c.2540C>A (n.2540C>A)
c.2115C>A (p.Val705=)
c.1833C>A (p.Val611=)
c.1044C>A (p.Val348=)
c.2871C>A (p.Val957=)
c.2298C>A (p.Val766=)
c.2223C>A (p.Val741=)
c.900C>A (p.Val300=)
3g.38894873A>CCA352175015SCN11Ac.2495T>G (p.Val832Gly)
c.2315T>G (p.Val772Gly)
c.2539T>G (n.2539T>G)
c.2114T>G (p.Val705Gly)
c.1832T>G (p.Val611Gly)
c.1043T>G (p.Val348Gly)
c.2870T>G (p.Val957Gly)
c.2297T>G (p.Val766Gly)
c.2222T>G (p.Val741Gly)
c.899T>G (p.Val300Gly)
3g.38894873A>GCA352175017SCN11Ac.2495T>C (p.Val832Ala)
c.2315T>C (p.Val772Ala)
c.2539T>C (n.2539T>C)
c.2114T>C (p.Val705Ala)
c.1832T>C (p.Val611Ala)
c.1043T>C (p.Val348Ala)
c.2870T>C (p.Val957Ala)
c.2297T>C (p.Val766Ala)
c.2222T>C (p.Val741Ala)
c.899T>C (p.Val300Ala)
3g.38894873A>TCA352175016SCN11Ac.2495T>A (p.Val832Asp)
c.2315T>A (p.Val772Asp)
c.2539T>A (n.2539T>A)
c.2114T>A (p.Val705Asp)
c.1832T>A (p.Val611Asp)
c.1043T>A (p.Val348Asp)
c.2870T>A (p.Val957Asp)
c.2297T>A (p.Val766Asp)
c.2222T>A (p.Val741Asp)
c.899T>A (p.Val300Asp)
3g.38894874C>ACA352175018SCN11Ac.2494G>T (p.Val832Phe)
c.2314G>T (p.Val772Phe)
c.2538G>T (n.2538G>T)
c.2113G>T (p.Val705Phe)
c.1831G>T (p.Val611Phe)
c.1042G>T (p.Val348Phe)
c.2869G>T (p.Val957Phe)
c.2296G>T (p.Val766Phe)
c.2221G>T (p.Val741Phe)
c.898G>T (p.Val300Phe)
3g.38894874C>GCA352175020SCN11Ac.2494G>C (p.Val832Leu)
c.2314G>C (p.Val772Leu)
c.2538G>C (n.2538G>C)
c.2113G>C (p.Val705Leu)
c.1831G>C (p.Val611Leu)
c.1042G>C (p.Val348Leu)
c.2869G>C (p.Val957Leu)
c.2296G>C (p.Val766Leu)
c.2221G>C (p.Val741Leu)
c.898G>C (p.Val300Leu)
3g.38894874C>TCA352175019SCN11Ac.2494G>A (p.Val832Ile)
c.2314G>A (p.Val772Ile)
c.2538G>A (n.2538G>A)
c.2113G>A (p.Val705Ile)
c.1831G>A (p.Val611Ile)
c.1042G>A (p.Val348Ile)
c.2869G>A (p.Val957Ile)
c.2296G>A (p.Val766Ile)
c.2221G>A (p.Val741Ile)
c.898G>A (p.Val300Ile)
3g.38894875T>ACA352175021SCN11Ac.2493A>T (p.Lys831Asn)
c.2313A>T (p.Lys771Asn)
c.2537A>T (n.2537A>T)
c.2112A>T (p.Lys704Asn)
c.1830A>T (p.Lys610Asn)
c.1041A>T (p.Lys347Asn)
c.2868A>T (p.Lys956Asn)
c.2295A>T (p.Lys765Asn)
c.2220A>T (p.Lys740Asn)
c.897A>T (p.Lys299Asn)
3g.38894875T>CCA433336195SCN11Ac.2493A>G (p.Lys831=)
c.2313A>G (p.Lys771=)
c.2537A>G (n.2537A>G)
c.2112A>G (p.Lys704=)
c.1830A>G (p.Lys610=)
c.1041A>G (p.Lys347=)
c.2868A>G (p.Lys956=)
c.2295A>G (p.Lys765=)
c.2220A>G (p.Lys740=)
c.897A>G (p.Lys299=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38894875T>GCA352175022SCN11Ac.2493A>C (p.Lys831Asn)
c.2313A>C (p.Lys771Asn)
c.2537A>C (n.2537A>C)
c.2112A>C (p.Lys704Asn)
c.1830A>C (p.Lys610Asn)
c.1041A>C (p.Lys347Asn)
c.2868A>C (p.Lys956Asn)
c.2295A>C (p.Lys765Asn)
c.2220A>C (p.Lys740Asn)
c.897A>C (p.Lys299Asn)
 dbSNP
3g.38894875T=CA1358718269SCN11Ac.2493A= (p.Lys831=)
c.2313A= (p.Lys771=)
c.2537A= (n.2537A=)
c.2112A= (p.Lys704=)
c.1830A= (p.Lys610=)
c.1041A= (p.Lys347=)
c.2868A= (p.Lys956=)
c.2295A= (p.Lys765=)
c.2220A= (p.Lys740=)
c.897A= (p.Lys299=)
3g.38894877delCA2577554821SCN11Ac.2493del (p.Val832SerfsTer3)
c.2313del (p.Val772SerfsTer3)
c.2537del (n.2537del)
c.2112del (p.Val705SerfsTer3)
c.1830del (p.Val611SerfsTer3)
c.1041del (p.Val348SerfsTer3)
c.2868del (p.Val957SerfsTer3)
c.2295del (p.Val766SerfsTer3)
c.2220del (p.Val741SerfsTer3)
c.897del (p.Val300SerfsTer3)
3g.38894876T>ACA352175023SCN11Ac.2492A>T (p.Lys831Ile)
c.2312A>T (p.Lys771Ile)
c.2536A>T (n.2536A>T)
c.2111A>T (p.Lys704Ile)
c.1829A>T (p.Lys610Ile)
c.1040A>T (p.Lys347Ile)
c.2867A>T (p.Lys956Ile)
c.2294A>T (p.Lys765Ile)
c.2219A>T (p.Lys740Ile)
c.896A>T (p.Lys299Ile)
3g.38894876T>CCA352175024SCN11Ac.2492A>G (p.Lys831Arg)
c.2312A>G (p.Lys771Arg)
c.2536A>G (n.2536A>G)
c.2111A>G (p.Lys704Arg)
c.1829A>G (p.Lys610Arg)
c.1040A>G (p.Lys347Arg)
c.2867A>G (p.Lys956Arg)
c.2294A>G (p.Lys765Arg)
c.2219A>G (p.Lys740Arg)
c.896A>G (p.Lys299Arg)
3g.38894876T>GCA352175025SCN11Ac.2492A>C (p.Lys831Thr)
c.2312A>C (p.Lys771Thr)
c.2536A>C (n.2536A>C)
c.2111A>C (p.Lys704Thr)
c.1829A>C (p.Lys610Thr)
c.1040A>C (p.Lys347Thr)
c.2867A>C (p.Lys956Thr)
c.2294A>C (p.Lys765Thr)
c.2219A>C (p.Lys740Thr)
c.896A>C (p.Lys299Thr)
 dbSNP gnomAD v2
3g.38894876T=CA1358718270SCN11Ac.2492A= (p.Lys831=)
c.2312A= (p.Lys771=)
c.2536A= (n.2536A=)
c.2111A= (p.Lys704=)
c.1829A= (p.Lys610=)
c.1040A= (p.Lys347=)
c.2867A= (p.Lys956=)
c.2294A= (p.Lys765=)
c.2219A= (p.Lys740=)
c.896A= (p.Lys299=)
3g.38894877T>ACA352175026SCN11Ac.2491A>T (p.Lys831Ter)
c.2311A>T (p.Lys771Ter)
c.2535A>T (n.2535A>T)
c.2110A>T (p.Lys704Ter)
c.1828A>T (p.Lys610Ter)
c.1039A>T (p.Lys347Ter)
c.2866A>T (p.Lys956Ter)
c.2293A>T (p.Lys765Ter)
c.2218A>T (p.Lys740Ter)
c.895A>T (p.Lys299Ter)
 dbSNP
3g.38894877T>CCA352175027SCN11Ac.2491A>G (p.Lys831Glu)
c.2311A>G (p.Lys771Glu)
c.2535A>G (n.2535A>G)
c.2110A>G (p.Lys704Glu)
c.1828A>G (p.Lys610Glu)
c.1039A>G (p.Lys347Glu)
c.2866A>G (p.Lys956Glu)
c.2293A>G (p.Lys765Glu)
c.2218A>G (p.Lys740Glu)
c.895A>G (p.Lys299Glu)
 dbSNP gnomAD v4
3g.38894877T>GCA352175028SCN11Ac.2491A>C (p.Lys831Gln)
c.2311A>C (p.Lys771Gln)
c.2535A>C (n.2535A>C)
c.2110A>C (p.Lys704Gln)
c.1828A>C (p.Lys610Gln)
c.1039A>C (p.Lys347Gln)
c.2866A>C (p.Lys956Gln)
c.2293A>C (p.Lys765Gln)
c.2218A>C (p.Lys740Gln)
c.895A>C (p.Lys299Gln)
3g.38894877T=CA1358718271SCN11Ac.2491A= (p.Lys831=)
c.2311A= (p.Lys771=)
c.2535A= (n.2535A=)
c.2110A= (p.Lys704=)
c.1828A= (p.Lys610=)
c.1039A= (p.Lys347=)
c.2866A= (p.Lys956=)
c.2293A= (p.Lys765=)
c.2218A= (p.Lys740=)
c.895A= (p.Lys299=)
3g.38894878A=CA1358718272SCN11Ac.2490T= (p.Thr830=)
c.2310T= (p.Thr770=)
c.2534T= (n.2534T=)
c.2109T= (p.Thr703=)
c.1827T= (p.Thr609=)
c.1038T= (p.Thr346=)
c.2865T= (p.Thr955=)
c.2292T= (p.Thr764=)
c.2217T= (p.Thr739=)
c.894T= (p.Thr298=)
3g.38894878A>CCA433336199SCN11Ac.2490T>G (p.Thr830=)
c.2310T>G (p.Thr770=)
c.2534T>G (n.2534T>G)
c.2109T>G (p.Thr703=)
c.1827T>G (p.Thr609=)
c.1038T>G (p.Thr346=)
c.2865T>G (p.Thr955=)
c.2292T>G (p.Thr764=)
c.2217T>G (p.Thr739=)
c.894T>G (p.Thr298=)
3g.38894878A>GCA433336200SCN11Ac.2490T>C (p.Thr830=)
c.2310T>C (p.Thr770=)
c.2534T>C (n.2534T>C)
c.2109T>C (p.Thr703=)
c.1827T>C (p.Thr609=)
c.1038T>C (p.Thr346=)
c.2865T>C (p.Thr955=)
c.2292T>C (p.Thr764=)
c.2217T>C (p.Thr739=)
c.894T>C (p.Thr298=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38894878A>TCA433336201SCN11Ac.2490T>A (p.Thr830=)
c.2310T>A (p.Thr770=)
c.2534T>A (n.2534T>A)
c.2109T>A (p.Thr703=)
c.1827T>A (p.Thr609=)
c.1038T>A (p.Thr346=)
c.2865T>A (p.Thr955=)
c.2292T>A (p.Thr764=)
c.2217T>A (p.Thr739=)
c.894T>A (p.Thr298=)
 gnomAD v4
3g.38894879G>ACA352175029SCN11Ac.2489C>T (p.Thr830Ile)
c.2309C>T (p.Thr770Ile)
c.2533C>T (n.2533C>T)
c.2108C>T (p.Thr703Ile)
c.1826C>T (p.Thr609Ile)
c.1037C>T (p.Thr346Ile)
c.2864C>T (p.Thr955Ile)
c.2291C>T (p.Thr764Ile)
c.2216C>T (p.Thr739Ile)
c.893C>T (p.Thr298Ile)
3g.38894879G>CCA352175030SCN11Ac.2489C>G (p.Thr830Ser)
c.2309C>G (p.Thr770Ser)
c.2533C>G (n.2533C>G)
c.2108C>G (p.Thr703Ser)
c.1826C>G (p.Thr609Ser)
c.1037C>G (p.Thr346Ser)
c.2864C>G (p.Thr955Ser)
c.2291C>G (p.Thr764Ser)
c.2216C>G (p.Thr739Ser)
c.893C>G (p.Thr298Ser)
3g.38894879G>TCA352175031SCN11Ac.2489C>A (p.Thr830Asn)
c.2309C>A (p.Thr770Asn)
c.2533C>A (n.2533C>A)
c.2108C>A (p.Thr703Asn)
c.1826C>A (p.Thr609Asn)
c.1037C>A (p.Thr346Asn)
c.2864C>A (p.Thr955Asn)
c.2291C>A (p.Thr764Asn)
c.2216C>A (p.Thr739Asn)
c.893C>A (p.Thr298Asn)
3g.38894880T>ACA352175034SCN11Ac.2488A>T (p.Thr830Ser)
c.2308A>T (p.Thr770Ser)
c.2532A>T (n.2532A>T)
c.2107A>T (p.Thr703Ser)
c.1825A>T (p.Thr609Ser)
c.1036A>T (p.Thr346Ser)
c.2863A>T (p.Thr955Ser)
c.2290A>T (p.Thr764Ser)
c.2215A>T (p.Thr739Ser)
c.892A>T (p.Thr298Ser)
 dbSNP
3g.38894880T>CCA352175032SCN11Ac.2488A>G (p.Thr830Ala)
c.2308A>G (p.Thr770Ala)
c.2532A>G (n.2532A>G)
c.2107A>G (p.Thr703Ala)
c.1825A>G (p.Thr609Ala)
c.1036A>G (p.Thr346Ala)
c.2863A>G (p.Thr955Ala)
c.2290A>G (p.Thr764Ala)
c.2215A>G (p.Thr739Ala)
c.892A>G (p.Thr298Ala)
 dbSNP
3g.38894880T>GCA352175033SCN11Ac.2488A>C (p.Thr830Pro)
c.2308A>C (p.Thr770Pro)
c.2532A>C (n.2532A>C)
c.2107A>C (p.Thr703Pro)
c.1825A>C (p.Thr609Pro)
c.1036A>C (p.Thr346Pro)
c.2863A>C (p.Thr955Pro)
c.2290A>C (p.Thr764Pro)
c.2215A>C (p.Thr739Pro)
c.892A>C (p.Thr298Pro)
3g.38894880T=CA1358718273SCN11Ac.2488A= (p.Thr830=)
c.2308A= (p.Thr770=)
c.2532A= (n.2532A=)
c.2107A= (p.Thr703=)
c.1825A= (p.Thr609=)
c.1036A= (p.Thr346=)
c.2863A= (p.Thr955=)
c.2290A= (p.Thr764=)
c.2215A= (p.Thr739=)
c.892A= (p.Thr298=)
3g.38894881T>ACA352175035SCN11Ac.2487A>T (p.Lys829Asn)
c.2307A>T (p.Lys769Asn)
c.2531A>T (n.2531A>T)
c.2106A>T (p.Lys702Asn)
c.1824A>T (p.Lys608Asn)
c.1035A>T (p.Lys345Asn)
c.2862A>T (p.Lys954Asn)
c.2289A>T (p.Lys763Asn)
c.2214A>T (p.Lys738Asn)
c.891A>T (p.Lys297Asn)
3g.38894881T>CCA433336205SCN11Ac.2487A>G (p.Lys829=)
c.2307A>G (p.Lys769=)
c.2531A>G (n.2531A>G)
c.2106A>G (p.Lys702=)
c.1824A>G (p.Lys608=)
c.1035A>G (p.Lys345=)
c.2862A>G (p.Lys954=)
c.2289A>G (p.Lys763=)
c.2214A>G (p.Lys738=)
c.891A>G (p.Lys297=)
3g.38894881T>GCA352175036SCN11Ac.2487A>C (p.Lys829Asn)
c.2307A>C (p.Lys769Asn)
c.2531A>C (n.2531A>C)
c.2106A>C (p.Lys702Asn)
c.1824A>C (p.Lys608Asn)
c.1035A>C (p.Lys345Asn)
c.2862A>C (p.Lys954Asn)
c.2289A>C (p.Lys763Asn)
c.2214A>C (p.Lys738Asn)
c.891A>C (p.Lys297Asn)
3g.38894882T>ACA352175037SCN11Ac.2486A>T (p.Lys829Ile)
c.2306A>T (p.Lys769Ile)
c.2530A>T (n.2530A>T)
c.2105A>T (p.Lys702Ile)
c.1823A>T (p.Lys608Ile)
c.1034A>T (p.Lys345Ile)
c.2861A>T (p.Lys954Ile)
c.2288A>T (p.Lys763Ile)
c.2213A>T (p.Lys738Ile)
c.890A>T (p.Lys297Ile)
3g.38894882T>CCA352175038SCN11Ac.2486A>G (p.Lys829Arg)
c.2306A>G (p.Lys769Arg)
c.2530A>G (n.2530A>G)
c.2105A>G (p.Lys702Arg)
c.1823A>G (p.Lys608Arg)
c.1034A>G (p.Lys345Arg)
c.2861A>G (p.Lys954Arg)
c.2288A>G (p.Lys763Arg)
c.2213A>G (p.Lys738Arg)
c.890A>G (p.Lys297Arg)
3g.38894882T>GCA352175039SCN11Ac.2486A>C (p.Lys829Thr)
c.2306A>C (p.Lys769Thr)
c.2530A>C (n.2530A>C)
c.2105A>C (p.Lys702Thr)
c.1823A>C (p.Lys608Thr)
c.1034A>C (p.Lys345Thr)
c.2861A>C (p.Lys954Thr)
c.2288A>C (p.Lys763Thr)
c.2213A>C (p.Lys738Thr)
c.890A>C (p.Lys297Thr)
3g.38894883T>ACA352175040SCN11Ac.2485A>T (p.Lys829Ter)
c.2305A>T (p.Lys769Ter)
c.2529A>T (n.2529A>T)
c.2104A>T (p.Lys702Ter)
c.1822A>T (p.Lys608Ter)
c.1033A>T (p.Lys345Ter)
c.2860A>T (p.Lys954Ter)
c.2287A>T (p.Lys763Ter)
c.2212A>T (p.Lys738Ter)
c.889A>T (p.Lys297Ter)
 dbSNP
3g.38894883T>CCA72997831SCN11Ac.2485A>G (p.Lys829Glu)
c.2305A>G (p.Lys769Glu)
c.2529A>G (n.2529A>G)
c.2104A>G (p.Lys702Glu)
c.1822A>G (p.Lys608Glu)
c.1033A>G (p.Lys345Glu)
c.2860A>G (p.Lys954Glu)
c.2287A>G (p.Lys763Glu)
c.2212A>G (p.Lys738Glu)
c.889A>G (p.Lys297Glu)
 ClinVar dbSNP
3g.38894883T>GCA352175041SCN11Ac.2485A>C (p.Lys829Gln)
c.2305A>C (p.Lys769Gln)
c.2529A>C (n.2529A>C)
c.2104A>C (p.Lys702Gln)
c.1822A>C (p.Lys608Gln)
c.1033A>C (p.Lys345Gln)
c.2860A>C (p.Lys954Gln)
c.2287A>C (p.Lys763Gln)
c.2212A>C (p.Lys738Gln)
c.889A>C (p.Lys297Gln)
3g.38894883T=CA1358718274SCN11Ac.2485A= (p.Lys829=)
c.2305A= (p.Lys769=)
c.2529A= (n.2529A=)
c.2104A= (p.Lys702=)
c.1822A= (p.Lys608=)
c.1033A= (p.Lys345=)
c.2860A= (p.Lys954=)
c.2287A= (p.Lys763=)
c.2212A= (p.Lys738=)
c.889A= (p.Lys297=)
3g.38894884C>ACA352175042SCN11Ac.2484G>T (p.Arg828Ser)
c.2304G>T (p.Arg768Ser)
c.2528G>T (n.2528G>T)
c.2103G>T (p.Arg701Ser)
c.1821G>T (p.Arg607Ser)
c.1032G>T (p.Arg344Ser)
c.2859G>T (p.Arg953Ser)
c.2286G>T (p.Arg762Ser)
c.2211G>T (p.Arg737Ser)
c.888G>T (p.Arg296Ser)
3g.38894884C=CA1358718275SCN11Ac.2484G= (p.Arg828=)
c.2304G= (p.Arg768=)
c.2528G= (n.2528G=)
c.2103G= (p.Arg701=)
c.1821G= (p.Arg607=)
c.1032G= (p.Arg344=)
c.2859G= (p.Arg953=)
c.2286G= (p.Arg762=)
c.2211G= (p.Arg737=)
c.888G= (p.Arg296=)
3g.38894884C>GCA352175043SCN11Ac.2484G>C (p.Arg828Ser)
c.2304G>C (p.Arg768Ser)
c.2528G>C (n.2528G>C)
c.2103G>C (p.Arg701Ser)
c.1821G>C (p.Arg607Ser)
c.1032G>C (p.Arg344Ser)
c.2859G>C (p.Arg953Ser)
c.2286G>C (p.Arg762Ser)
c.2211G>C (p.Arg737Ser)
c.888G>C (p.Arg296Ser)
3g.38894884C>TCA433336207SCN11Ac.2484G>A (p.Arg828=)
c.2304G>A (p.Arg768=)
c.2528G>A (n.2528G>A)
c.2103G>A (p.Arg701=)
c.1821G>A (p.Arg607=)
c.1032G>A (p.Arg344=)
c.2859G>A (p.Arg953=)
c.2286G>A (p.Arg762=)
c.2211G>A (p.Arg737=)
c.888G>A (p.Arg296=)
 dbSNP gnomAD v4 COSMIC
3g.38894885C>ACA352175045SCN11Ac.2483G>T (p.Arg828Met)
c.2303G>T (p.Arg768Met)
c.2527G>T (n.2527G>T)
c.2102G>T (p.Arg701Met)
c.1820G>T (p.Arg607Met)
c.1031G>T (p.Arg344Met)
c.2858G>T (p.Arg953Met)
c.2285G>T (p.Arg762Met)
c.2210G>T (p.Arg737Met)
c.887G>T (p.Arg296Met)
3g.38894885C=CA1358718276SCN11Ac.2483G= (p.Arg828=)
c.2303G= (p.Arg768=)
c.2527G= (n.2527G=)
c.2102G= (p.Arg701=)
c.1820G= (p.Arg607=)
c.1031G= (p.Arg344=)
c.2858G= (p.Arg953=)
c.2285G= (p.Arg762=)
c.2210G= (p.Arg737=)
c.887G= (p.Arg296=)
3g.38894885C>GCA352175046SCN11Ac.2483G>C (p.Arg828Thr)
c.2303G>C (p.Arg768Thr)
c.2527G>C (n.2527G>C)
c.2102G>C (p.Arg701Thr)
c.1820G>C (p.Arg607Thr)
c.1031G>C (p.Arg344Thr)
c.2858G>C (p.Arg953Thr)
c.2285G>C (p.Arg762Thr)
c.2210G>C (p.Arg737Thr)
c.887G>C (p.Arg296Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.38894885C>TCA352175044SCN11Ac.2483G>A (p.Arg828Lys)
c.2303G>A (p.Arg768Lys)
c.2527G>A (n.2527G>A)
c.2102G>A (p.Arg701Lys)
c.1820G>A (p.Arg607Lys)
c.1031G>A (p.Arg344Lys)
c.2858G>A (p.Arg953Lys)
c.2285G>A (p.Arg762Lys)
c.2210G>A (p.Arg737Lys)
c.887G>A (p.Arg296Lys)
3g.38894886T>ACA352175047SCN11Ac.2482A>T (p.Arg828Trp)
c.2302A>T (p.Arg768Trp)
c.2526A>T (n.2526A>T)
c.2101A>T (p.Arg701Trp)
c.1819A>T (p.Arg607Trp)
c.1030A>T (p.Arg344Trp)
c.2857A>T (p.Arg953Trp)
c.2284A>T (p.Arg762Trp)
c.2209A>T (p.Arg737Trp)
c.886A>T (p.Arg296Trp)
3g.38894886T>CCA352175048SCN11Ac.2482A>G (p.Arg828Gly)
c.2302A>G (p.Arg768Gly)
c.2526A>G (n.2526A>G)
c.2101A>G (p.Arg701Gly)
c.1819A>G (p.Arg607Gly)
c.1030A>G (p.Arg344Gly)
c.2857A>G (p.Arg953Gly)
c.2284A>G (p.Arg762Gly)
c.2209A>G (p.Arg737Gly)
c.886A>G (p.Arg296Gly)
3g.38894886T>GCA433336208SCN11Ac.2482A>C (p.Arg828=)
c.2302A>C (p.Arg768=)
c.2526A>C (n.2526A>C)
c.2101A>C (p.Arg701=)
c.1819A>C (p.Arg607=)
c.1030A>C (p.Arg344=)
c.2857A>C (p.Arg953=)
c.2284A>C (p.Arg762=)
c.2209A>C (p.Arg737=)
c.886A>C (p.Arg296=)
3g.38894887G>ACA433336209SCN11Ac.2481C>T (p.Ala827=)
c.2301C>T (p.Ala767=)
c.2525C>T (n.2525C>T)
c.2100C>T (p.Ala700=)
c.1818C>T (p.Ala606=)
c.1029C>T (p.Ala343=)
c.2856C>T (p.Ala952=)
c.2283C>T (p.Ala761=)
c.2208C>T (p.Ala736=)
c.885C>T (p.Ala295=)
 gnomAD v4
3g.38894887G>CCA433336210SCN11Ac.2481C>G (p.Ala827=)
c.2301C>G (p.Ala767=)
c.2525C>G (n.2525C>G)
c.2100C>G (p.Ala700=)
c.1818C>G (p.Ala606=)
c.1029C>G (p.Ala343=)
c.2856C>G (p.Ala952=)
c.2283C>G (p.Ala761=)
c.2208C>G (p.Ala736=)
c.885C>G (p.Ala295=)
3g.38894887G>TCA433336211SCN11Ac.2481C>A (p.Ala827=)
c.2301C>A (p.Ala767=)
c.2525C>A (n.2525C>A)
c.2100C>A (p.Ala700=)
c.1818C>A (p.Ala606=)
c.1029C>A (p.Ala343=)
c.2856C>A (p.Ala952=)
c.2283C>A (p.Ala761=)
c.2208C>A (p.Ala736=)
c.885C>A (p.Ala295=)
3g.38894888delCA2577554822SCN11Ac.2481del (p.Arg828GlyfsTer7)
c.2301del (p.Arg768GlyfsTer7)
c.2525del (n.2525del)
c.2100del (p.Arg701GlyfsTer7)
c.1818del (p.Arg607GlyfsTer7)
c.1029del (p.Arg344GlyfsTer7)
c.2856del (p.Arg953GlyfsTer7)
c.2283del (p.Arg762GlyfsTer7)
c.2208del (p.Arg737GlyfsTer7)
c.885del (p.Arg296GlyfsTer7)
3g.38894888G>ACA2322030SCN11Ac.2480C>T (p.Ala827Val)
c.2300C>T (p.Ala767Val)
c.2524C>T (n.2524C>T)
c.2099C>T (p.Ala700Val)
c.1817C>T (p.Ala606Val)
c.1028C>T (p.Ala343Val)
c.2855C>T (p.Ala952Val)
c.2282C>T (p.Ala761Val)
c.2207C>T (p.Ala736Val)
c.884C>T (p.Ala295Val)
 ClinVar dbSNP ExAC gnomAD v2
3g.38894888G>CCA352175049SCN11Ac.2480C>G (p.Ala827Gly)
c.2300C>G (p.Ala767Gly)
c.2524C>G (n.2524C>G)
c.2099C>G (p.Ala700Gly)
c.1817C>G (p.Ala606Gly)
c.1028C>G (p.Ala343Gly)
c.2855C>G (p.Ala952Gly)
c.2282C>G (p.Ala761Gly)
c.2207C>G (p.Ala736Gly)
c.884C>G (p.Ala295Gly)
3g.38894888G=CA1358718277SCN11Ac.2480C= (p.Ala827=)
c.2300C= (p.Ala767=)
c.2524C= (n.2524C=)
c.2099C= (p.Ala700=)
c.1817C= (p.Ala606=)
c.1028C= (p.Ala343=)
c.2855C= (p.Ala952=)
c.2282C= (p.Ala761=)
c.2207C= (p.Ala736=)
c.884C= (p.Ala295=)
3g.38894888G>TCA352175050SCN11Ac.2480C>A (p.Ala827Asp)
c.2300C>A (p.Ala767Asp)
c.2524C>A (n.2524C>A)
c.2099C>A (p.Ala700Asp)
c.1817C>A (p.Ala606Asp)
c.1028C>A (p.Ala343Asp)
c.2855C>A (p.Ala952Asp)
c.2282C>A (p.Ala761Asp)
c.2207C>A (p.Ala736Asp)
c.884C>A (p.Ala295Asp)
3g.38894889C>ACA2322031SCN11Ac.2479G>T (p.Ala827Ser)
c.2299G>T (p.Ala767Ser)
c.2523G>T (n.2523G>T)
c.2098G>T (p.Ala700Ser)
c.1816G>T (p.Ala606Ser)
c.1027G>T (p.Ala343Ser)
c.2854G>T (p.Ala952Ser)
c.2281G>T (p.Ala761Ser)
c.2206G>T (p.Ala736Ser)
c.883G>T (p.Ala295Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894889C=CA1358718278SCN11Ac.2479G= (p.Ala827=)
c.2299G= (p.Ala767=)
c.2523G= (n.2523G=)
c.2098G= (p.Ala700=)
c.1816G= (p.Ala606=)
c.1027G= (p.Ala343=)
c.2854G= (p.Ala952=)
c.2281G= (p.Ala761=)
c.2206G= (p.Ala736=)
c.883G= (p.Ala295=)
3g.38894889C>GCA352175052SCN11Ac.2479G>C (p.Ala827Pro)
c.2299G>C (p.Ala767Pro)
c.2523G>C (n.2523G>C)
c.2098G>C (p.Ala700Pro)
c.1816G>C (p.Ala606Pro)
c.1027G>C (p.Ala343Pro)
c.2854G>C (p.Ala952Pro)
c.2281G>C (p.Ala761Pro)
c.2206G>C (p.Ala736Pro)
c.883G>C (p.Ala295Pro)
3g.38894889C>TCA352175051SCN11Ac.2479G>A (p.Ala827Thr)
c.2299G>A (p.Ala767Thr)
c.2523G>A (n.2523G>A)
c.2098G>A (p.Ala700Thr)
c.1816G>A (p.Ala606Thr)
c.1027G>A (p.Ala343Thr)
c.2854G>A (p.Ala952Thr)
c.2281G>A (p.Ala761Thr)
c.2206G>A (p.Ala736Thr)
c.883G>A (p.Ala295Thr)
 gnomAD v4
3g.38894890C>ACA352175053SCN11Ac.2478G>T (p.Glu826Asp)
c.2298G>T (p.Glu766Asp)
c.2522G>T (n.2522G>T)
c.2097G>T (p.Glu699Asp)
c.1815G>T (p.Glu605Asp)
c.1026G>T (p.Glu342Asp)
c.2853G>T (p.Glu951Asp)
c.2280G>T (p.Glu760Asp)
c.2205G>T (p.Glu735Asp)
c.882G>T (p.Glu294Asp)
3g.38894890C=CA1358718279SCN11Ac.2478G= (p.Glu826=)
c.2298G= (p.Glu766=)
c.2522G= (n.2522G=)
c.2097G= (p.Glu699=)
c.1815G= (p.Glu605=)
c.1026G= (p.Glu342=)
c.2853G= (p.Glu951=)
c.2280G= (p.Glu760=)
c.2205G= (p.Glu735=)
c.882G= (p.Glu294=)
3g.38894890C>GCA352175054SCN11Ac.2478G>C (p.Glu826Asp)
c.2298G>C (p.Glu766Asp)
c.2522G>C (n.2522G>C)
c.2097G>C (p.Glu699Asp)
c.1815G>C (p.Glu605Asp)
c.1026G>C (p.Glu342Asp)
c.2853G>C (p.Glu951Asp)
c.2280G>C (p.Glu760Asp)
c.2205G>C (p.Glu735Asp)
c.882G>C (p.Glu294Asp)
3g.38894890C>TCA2322032SCN11Ac.2478G>A (p.Glu826=)
c.2298G>A (p.Glu766=)
c.2522G>A (n.2522G>A)
c.2097G>A (p.Glu699=)
c.1815G>A (p.Glu605=)
c.1026G>A (p.Glu342=)
c.2853G>A (p.Glu951=)
c.2280G>A (p.Glu760=)
c.2205G>A (p.Glu735=)
c.882G>A (p.Glu294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894891T>ACA352175055SCN11Ac.2477A>T (p.Glu826Val)
c.2297A>T (p.Glu766Val)
c.2521A>T (n.2521A>T)
c.2096A>T (p.Glu699Val)
c.1814A>T (p.Glu605Val)
c.1025A>T (p.Glu342Val)
c.2852A>T (p.Glu951Val)
c.2279A>T (p.Glu760Val)
c.2204A>T (p.Glu735Val)
c.881A>T (p.Glu294Val)
3g.38894891T>CCA352175056SCN11Ac.2477A>G (p.Glu826Gly)
c.2297A>G (p.Glu766Gly)
c.2521A>G (n.2521A>G)
c.2096A>G (p.Glu699Gly)
c.1814A>G (p.Glu605Gly)
c.1025A>G (p.Glu342Gly)
c.2852A>G (p.Glu951Gly)
c.2279A>G (p.Glu760Gly)
c.2204A>G (p.Glu735Gly)
c.881A>G (p.Glu294Gly)
3g.38894891T>GCA352175057SCN11Ac.2477A>C (p.Glu826Ala)
c.2297A>C (p.Glu766Ala)
c.2521A>C (n.2521A>C)
c.2096A>C (p.Glu699Ala)
c.1814A>C (p.Glu605Ala)
c.1025A>C (p.Glu342Ala)
c.2852A>C (p.Glu951Ala)
c.2279A>C (p.Glu760Ala)
c.2204A>C (p.Glu735Ala)
c.881A>C (p.Glu294Ala)
3g.38894892C>ACA352175058SCN11Ac.2476G>T (p.Glu826Ter)
c.2296G>T (p.Glu766Ter)
c.2520G>T (n.2520G>T)
c.2095G>T (p.Glu699Ter)
c.1813G>T (p.Glu605Ter)
c.1024G>T (p.Glu342Ter)
c.2851G>T (p.Glu951Ter)
c.2278G>T (p.Glu760Ter)
c.2203G>T (p.Glu735Ter)
c.880G>T (p.Glu294Ter)
 dbSNP gnomAD v4
3g.38894892C=CA1358718280SCN11Ac.2476G= (p.Glu826=)
c.2296G= (p.Glu766=)
c.2520G= (n.2520G=)
c.2095G= (p.Glu699=)
c.1813G= (p.Glu605=)
c.1024G= (p.Glu342=)
c.2851G= (p.Glu951=)
c.2278G= (p.Glu760=)
c.2203G= (p.Glu735=)
c.880G= (p.Glu294=)
3g.38894892C>GCA352175060SCN11Ac.2476G>C (p.Glu826Gln)
c.2296G>C (p.Glu766Gln)
c.2520G>C (n.2520G>C)
c.2095G>C (p.Glu699Gln)
c.1813G>C (p.Glu605Gln)
c.1024G>C (p.Glu342Gln)
c.2851G>C (p.Glu951Gln)
c.2278G>C (p.Glu760Gln)
c.2203G>C (p.Glu735Gln)
c.880G>C (p.Glu294Gln)
3g.38894892C>TCA352175059SCN11Ac.2476G>A (p.Glu826Lys)
c.2296G>A (p.Glu766Lys)
c.2520G>A (n.2520G>A)
c.2095G>A (p.Glu699Lys)
c.1813G>A (p.Glu605Lys)
c.1024G>A (p.Glu342Lys)
c.2851G>A (p.Glu951Lys)
c.2278G>A (p.Glu760Lys)
c.2203G>A (p.Glu735Lys)
c.880G>A (p.Glu294Lys)
3g.38894893T>ACA433336214SCN11Ac.2475A>T (p.Gly825=)
c.2295A>T (p.Gly765=)
c.2519A>T (n.2519A>T)
c.2094A>T (p.Gly698=)
c.1812A>T (p.Gly604=)
c.1023A>T (p.Gly341=)
c.2850A>T (p.Gly950=)
c.2277A>T (p.Gly759=)
c.2202A>T (p.Gly734=)
c.879A>T (p.Gly293=)
3g.38894893T>CCA433336213SCN11Ac.2475A>G (p.Gly825=)
c.2295A>G (p.Gly765=)
c.2519A>G (n.2519A>G)
c.2094A>G (p.Gly698=)
c.1812A>G (p.Gly604=)
c.1023A>G (p.Gly341=)
c.2850A>G (p.Gly950=)
c.2277A>G (p.Gly759=)
c.2202A>G (p.Gly734=)
c.879A>G (p.Gly293=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894893T>GCA433336212SCN11Ac.2475A>C (p.Gly825=)
c.2295A>C (p.Gly765=)
c.2519A>C (n.2519A>C)
c.2094A>C (p.Gly698=)
c.1812A>C (p.Gly604=)
c.1023A>C (p.Gly341=)
c.2850A>C (p.Gly950=)
c.2277A>C (p.Gly759=)
c.2202A>C (p.Gly734=)
c.879A>C (p.Gly293=)
3g.38894893T=CA1358718281SCN11Ac.2475A= (p.Gly825=)
c.2295A= (p.Gly765=)
c.2519A= (n.2519A=)
c.2094A= (p.Gly698=)
c.1812A= (p.Gly604=)
c.1023A= (p.Gly341=)
c.2850A= (p.Gly950=)
c.2277A= (p.Gly759=)
c.2202A= (p.Gly734=)
c.879A= (p.Gly293=)
3g.38894894C>ACA352175061SCN11Ac.2474G>T (p.Gly825Val)
c.2294G>T (p.Gly765Val)
c.2518G>T (n.2518G>T)
c.2093G>T (p.Gly698Val)
c.1811G>T (p.Gly604Val)
c.1022G>T (p.Gly341Val)
c.2849G>T (p.Gly950Val)
c.2276G>T (p.Gly759Val)
c.2201G>T (p.Gly734Val)
c.878G>T (p.Gly293Val)
3g.38894894C=CA1358718282SCN11Ac.2474G= (p.Gly825=)
c.2294G= (p.Gly765=)
c.2518G= (n.2518G=)
c.2093G= (p.Gly698=)
c.1811G= (p.Gly604=)
c.1022G= (p.Gly341=)
c.2849G= (p.Gly950=)
c.2276G= (p.Gly759=)
c.2201G= (p.Gly734=)
c.878G= (p.Gly293=)
3g.38894894C>GCA352175062SCN11Ac.2474G>C (p.Gly825Ala)
c.2294G>C (p.Gly765Ala)
c.2518G>C (n.2518G>C)
c.2093G>C (p.Gly698Ala)
c.1811G>C (p.Gly604Ala)
c.1022G>C (p.Gly341Ala)
c.2849G>C (p.Gly950Ala)
c.2276G>C (p.Gly759Ala)
c.2201G>C (p.Gly734Ala)
c.878G>C (p.Gly293Ala)
3g.38894894C>TCA352175063SCN11Ac.2474G>A (p.Gly825Glu)
c.2294G>A (p.Gly765Glu)
c.2518G>A (n.2518G>A)
c.2093G>A (p.Gly698Glu)
c.1811G>A (p.Gly604Glu)
c.1022G>A (p.Gly341Glu)
c.2849G>A (p.Gly950Glu)
c.2276G>A (p.Gly759Glu)
c.2201G>A (p.Gly734Glu)
c.878G>A (p.Gly293Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894894_38894897delinsCCTTCA1358718283SCN11Ac.2471_2474delinsAAGG (p.Glu824=)
c.2291_2294delinsAAGG (p.Glu764=)
c.2515_2518delinsAAGG (n.2515_2518delinsAAGG)
c.2090_2093delinsAAGG (p.Glu697=)
c.1808_1811delinsAAGG (p.Glu603=)
c.1019_1022delinsAAGG (p.Glu340=)
c.2846_2849delinsAAGG (p.Glu949=)
c.2273_2276delinsAAGG (p.Glu758=)
c.2198_2201delinsAAGG (p.Glu733=)
c.875_878delinsAAGG (p.Glu292=)
3g.38894895C>ACA352175064SCN11Ac.2473G>T (p.Gly825Ter)
c.2293G>T (p.Gly765Ter)
c.2517G>T (n.2517G>T)
c.2092G>T (p.Gly698Ter)
c.1810G>T (p.Gly604Ter)
c.1021G>T (p.Gly341Ter)
c.2848G>T (p.Gly950Ter)
c.2275G>T (p.Gly759Ter)
c.2200G>T (p.Gly734Ter)
c.877G>T (p.Gly293Ter)
 dbSNP COSMIC
3g.38894895C=CA1358718284SCN11Ac.2473G= (p.Gly825=)
c.2293G= (p.Gly765=)
c.2517G= (n.2517G=)
c.2092G= (p.Gly698=)
c.1810G= (p.Gly604=)
c.1021G= (p.Gly341=)
c.2848G= (p.Gly950=)
c.2275G= (p.Gly759=)
c.2200G= (p.Gly734=)
c.877G= (p.Gly293=)
3g.38894895C>GCA352175065SCN11Ac.2473G>C (p.Gly825Arg)
c.2293G>C (p.Gly765Arg)
c.2517G>C (n.2517G>C)
c.2092G>C (p.Gly698Arg)
c.1810G>C (p.Gly604Arg)
c.1021G>C (p.Gly341Arg)
c.2848G>C (p.Gly950Arg)
c.2275G>C (p.Gly759Arg)
c.2200G>C (p.Gly734Arg)
c.877G>C (p.Gly293Arg)
3g.38894895C>TCA352175066SCN11Ac.2473G>A (p.Gly825Arg)
c.2293G>A (p.Gly765Arg)
c.2517G>A (n.2517G>A)
c.2092G>A (p.Gly698Arg)
c.1810G>A (p.Gly604Arg)
c.1021G>A (p.Gly341Arg)
c.2848G>A (p.Gly950Arg)
c.2275G>A (p.Gly759Arg)
c.2200G>A (p.Gly734Arg)
c.877G>A (p.Gly293Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894897_38894899delCA906910322SCN11Ac.2471_2473del (p.Glu824del)
c.2291_2293del (p.Glu764del)
c.2515_2517del (n.2515_2517del)
c.2090_2092del (p.Glu697del)
c.1808_1810del (p.Glu603del)
c.1019_1021del (p.Glu340del)
c.2846_2848del (p.Glu949del)
c.2273_2275del (p.Glu758del)
c.2198_2200del (p.Glu733del)
c.875_877del (p.Glu292del)
 dbSNP
3g.38894896T>ACA352175067SCN11Ac.2472A>T (p.Glu824Asp)
c.2292A>T (p.Glu764Asp)
c.2516A>T (n.2516A>T)
c.2091A>T (p.Glu697Asp)
c.1809A>T (p.Glu603Asp)
c.1020A>T (p.Glu340Asp)
c.2847A>T (p.Glu949Asp)
c.2274A>T (p.Glu758Asp)
c.2199A>T (p.Glu733Asp)
c.876A>T (p.Glu292Asp)
3g.38894896T>CCA433336215SCN11Ac.2472A>G (p.Glu824=)
c.2292A>G (p.Glu764=)
c.2516A>G (n.2516A>G)
c.2091A>G (p.Glu697=)
c.1809A>G (p.Glu603=)
c.1020A>G (p.Glu340=)
c.2847A>G (p.Glu949=)
c.2274A>G (p.Glu758=)
c.2199A>G (p.Glu733=)
c.876A>G (p.Glu292=)
3g.38894896T>GCA352175068SCN11Ac.2472A>C (p.Glu824Asp)
c.2292A>C (p.Glu764Asp)
c.2516A>C (n.2516A>C)
c.2091A>C (p.Glu697Asp)
c.1809A>C (p.Glu603Asp)
c.1020A>C (p.Glu340Asp)
c.2847A>C (p.Glu949Asp)
c.2274A>C (p.Glu758Asp)
c.2199A>C (p.Glu733Asp)
c.876A>C (p.Glu292Asp)
3g.38894897T>ACA352175069SCN11Ac.2471A>T (p.Glu824Val)
c.2291A>T (p.Glu764Val)
c.2515A>T (n.2515A>T)
c.2090A>T (p.Glu697Val)
c.1808A>T (p.Glu603Val)
c.1019A>T (p.Glu340Val)
c.2846A>T (p.Glu949Val)
c.2273A>T (p.Glu758Val)
c.2198A>T (p.Glu733Val)
c.875A>T (p.Glu292Val)
3g.38894897T>CCA352175070SCN11Ac.2471A>G (p.Glu824Gly)
c.2291A>G (p.Glu764Gly)
c.2515A>G (n.2515A>G)
c.2090A>G (p.Glu697Gly)
c.1808A>G (p.Glu603Gly)
c.1019A>G (p.Glu340Gly)
c.2846A>G (p.Glu949Gly)
c.2273A>G (p.Glu758Gly)
c.2198A>G (p.Glu733Gly)
c.875A>G (p.Glu292Gly)
 gnomAD v4
3g.38894897T>GCA352175071SCN11Ac.2471A>C (p.Glu824Ala)
c.2291A>C (p.Glu764Ala)
c.2515A>C (n.2515A>C)
c.2090A>C (p.Glu697Ala)
c.1808A>C (p.Glu603Ala)
c.1019A>C (p.Glu340Ala)
c.2846A>C (p.Glu949Ala)
c.2273A>C (p.Glu758Ala)
c.2198A>C (p.Glu733Ala)
c.875A>C (p.Glu292Ala)
3g.38894898C>ACA352175073SCN11Ac.2470G>T (p.Glu824Ter)
c.2290G>T (p.Glu764Ter)
c.2514G>T (n.2514G>T)
c.2089G>T (p.Glu697Ter)
c.1807G>T (p.Glu603Ter)
c.1018G>T (p.Glu340Ter)
c.2845G>T (p.Glu949Ter)
c.2272G>T (p.Glu758Ter)
c.2197G>T (p.Glu733Ter)
c.874G>T (p.Glu292Ter)
 dbSNP
3g.38894898C=CA1358718285SCN11Ac.2470G= (p.Glu824=)
c.2290G= (p.Glu764=)
c.2514G= (n.2514G=)
c.2089G= (p.Glu697=)
c.1807G= (p.Glu603=)
c.1018G= (p.Glu340=)
c.2845G= (p.Glu949=)
c.2272G= (p.Glu758=)
c.2197G= (p.Glu733=)
c.874G= (p.Glu292=)
3g.38894898C>GCA352175072SCN11Ac.2470G>C (p.Glu824Gln)
c.2290G>C (p.Glu764Gln)
c.2514G>C (n.2514G>C)
c.2089G>C (p.Glu697Gln)
c.1807G>C (p.Glu603Gln)
c.1018G>C (p.Glu340Gln)
c.2845G>C (p.Glu949Gln)
c.2272G>C (p.Glu758Gln)
c.2197G>C (p.Glu733Gln)
c.874G>C (p.Glu292Gln)
 gnomAD v4
3g.38894898C>TCA72997863SCN11Ac.2470G>A (p.Glu824Lys)
c.2290G>A (p.Glu764Lys)
c.2514G>A (n.2514G>A)
c.2089G>A (p.Glu697Lys)
c.1807G>A (p.Glu603Lys)
c.1018G>A (p.Glu340Lys)
c.2845G>A (p.Glu949Lys)
c.2272G>A (p.Glu758Lys)
c.2197G>A (p.Glu733Lys)
c.874G>A (p.Glu292Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.38894899T>ACA352175074SCN11Ac.2469A>T (p.Leu823Phe)
c.2289A>T (p.Leu763Phe)
c.2513A>T (n.2513A>T)
c.2088A>T (p.Leu696Phe)
c.1806A>T (p.Leu602Phe)
c.1017A>T (p.Leu339Phe)
c.2844A>T (p.Leu948Phe)
c.2271A>T (p.Leu757Phe)
c.2196A>T (p.Leu732Phe)
c.873A>T (p.Leu291Phe)
3g.38894899T>CCA433336216SCN11Ac.2469A>G (p.Leu823=)
c.2289A>G (p.Leu763=)
c.2513A>G (n.2513A>G)
c.2088A>G (p.Leu696=)
c.1806A>G (p.Leu602=)
c.1017A>G (p.Leu339=)
c.2844A>G (p.Leu948=)
c.2271A>G (p.Leu757=)
c.2196A>G (p.Leu732=)
c.873A>G (p.Leu291=)
3g.38894899T>GCA352175075SCN11Ac.2469A>C (p.Leu823Phe)
c.2289A>C (p.Leu763Phe)
c.2513A>C (n.2513A>C)
c.2088A>C (p.Leu696Phe)
c.1806A>C (p.Leu602Phe)
c.1017A>C (p.Leu339Phe)
c.2844A>C (p.Leu948Phe)
c.2271A>C (p.Leu757Phe)
c.2196A>C (p.Leu732Phe)
c.873A>C (p.Leu291Phe)
 dbSNP
3g.38894899T=CA1358718286SCN11Ac.2469A= (p.Leu823=)
c.2289A= (p.Leu763=)
c.2513A= (n.2513A=)
c.2088A= (p.Leu696=)
c.1806A= (p.Leu602=)
c.1017A= (p.Leu339=)
c.2844A= (p.Leu948=)
c.2271A= (p.Leu757=)
c.2196A= (p.Leu732=)
c.873A= (p.Leu291=)
3g.38894900A=CA1358718287SCN11Ac.2468T= (p.Leu823=)
c.2288T= (p.Leu763=)
c.2512T= (n.2512T=)
c.2087T= (p.Leu696=)
c.1805T= (p.Leu602=)
c.1016T= (p.Leu339=)
c.2843T= (p.Leu948=)
c.2270T= (p.Leu757=)
c.2195T= (p.Leu732=)
c.872T= (p.Leu291=)
3g.38894900A>CCA352175076SCN11Ac.2468T>G (p.Leu823Ter)
c.2288T>G (p.Leu763Ter)
c.2512T>G (n.2512T>G)
c.2087T>G (p.Leu696Ter)
c.1805T>G (p.Leu602Ter)
c.1016T>G (p.Leu339Ter)
c.2843T>G (p.Leu948Ter)
c.2270T>G (p.Leu757Ter)
c.2195T>G (p.Leu732Ter)
c.872T>G (p.Leu291Ter)
3g.38894900A>GCA352175077SCN11Ac.2468T>C (p.Leu823Ser)
c.2288T>C (p.Leu763Ser)
c.2512T>C (n.2512T>C)
c.2087T>C (p.Leu696Ser)
c.1805T>C (p.Leu602Ser)
c.1016T>C (p.Leu339Ser)
c.2843T>C (p.Leu948Ser)
c.2270T>C (p.Leu757Ser)
c.2195T>C (p.Leu732Ser)
c.872T>C (p.Leu291Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.38894900A>TCA352175078SCN11Ac.2468T>A (p.Leu823Ter)
c.2288T>A (p.Leu763Ter)
c.2512T>A (n.2512T>A)
c.2087T>A (p.Leu696Ter)
c.1805T>A (p.Leu602Ter)
c.1016T>A (p.Leu339Ter)
c.2843T>A (p.Leu948Ter)
c.2270T>A (p.Leu757Ter)
c.2195T>A (p.Leu732Ter)
c.872T>A (p.Leu291Ter)
3g.38894901A>CCA352175079SCN11Ac.2467T>G (p.Leu823Val)
c.2287T>G (p.Leu763Val)
c.2511T>G (n.2511T>G)
c.2086T>G (p.Leu696Val)
c.1804T>G (p.Leu602Val)
c.1015T>G (p.Leu339Val)
c.2842T>G (p.Leu948Val)
c.2269T>G (p.Leu757Val)
c.2194T>G (p.Leu732Val)
c.871T>G (p.Leu291Val)
3g.38894901A>GCA433336217SCN11Ac.2467T>C (p.Leu823=)
c.2287T>C (p.Leu763=)
c.2511T>C (n.2511T>C)
c.2086T>C (p.Leu696=)
c.1804T>C (p.Leu602=)
c.1015T>C (p.Leu339=)
c.2842T>C (p.Leu948=)
c.2269T>C (p.Leu757=)
c.2194T>C (p.Leu732=)
c.871T>C (p.Leu291=)
3g.38894901A>TCA352175080SCN11Ac.2467T>A (p.Leu823Ile)
c.2287T>A (p.Leu763Ile)
c.2511T>A (n.2511T>A)
c.2086T>A (p.Leu696Ile)
c.1804T>A (p.Leu602Ile)
c.1015T>A (p.Leu339Ile)
c.2842T>A (p.Leu948Ile)
c.2269T>A (p.Leu757Ile)
c.2194T>A (p.Leu732Ile)
c.871T>A (p.Leu291Ile)
3g.38894902G>ACA433336218SCN11Ac.2466C>T (p.Asn822=)
c.2286C>T (p.Asn762=)
c.2510C>T (n.2510C>T)
c.2085C>T (p.Asn695=)
c.1803C>T (p.Asn601=)
c.1014C>T (p.Asn338=)
c.2841C>T (p.Asn947=)
c.2268C>T (p.Asn756=)
c.2193C>T (p.Asn731=)
c.870C>T (p.Asn290=)
 gnomAD v4
3g.38894902G>CCA352175081SCN11Ac.2466C>G (p.Asn822Lys)
c.2286C>G (p.Asn762Lys)
c.2510C>G (n.2510C>G)
c.2085C>G (p.Asn695Lys)
c.1803C>G (p.Asn601Lys)
c.1014C>G (p.Asn338Lys)
c.2841C>G (p.Asn947Lys)
c.2268C>G (p.Asn756Lys)
c.2193C>G (p.Asn731Lys)
c.870C>G (p.Asn290Lys)
3g.38894902G>TCA352175082SCN11Ac.2466C>A (p.Asn822Lys)
c.2286C>A (p.Asn762Lys)
c.2510C>A (n.2510C>A)
c.2085C>A (p.Asn695Lys)
c.1803C>A (p.Asn601Lys)
c.1014C>A (p.Asn338Lys)
c.2841C>A (p.Asn947Lys)
c.2268C>A (p.Asn756Lys)
c.2193C>A (p.Asn731Lys)
c.870C>A (p.Asn290Lys)
3g.38894903T>ACA352175083SCN11Ac.2465A>T (p.Asn822Ile)
c.2285A>T (p.Asn762Ile)
c.2509A>T (n.2509A>T)
c.2084A>T (p.Asn695Ile)
c.1802A>T (p.Asn601Ile)
c.1013A>T (p.Asn338Ile)
c.2840A>T (p.Asn947Ile)
c.2267A>T (p.Asn756Ile)
c.2192A>T (p.Asn731Ile)
c.869A>T (p.Asn290Ile)
3g.38894903T>CCA352175084SCN11Ac.2465A>G (p.Asn822Ser)
c.2285A>G (p.Asn762Ser)
c.2509A>G (n.2509A>G)
c.2084A>G (p.Asn695Ser)
c.1802A>G (p.Asn601Ser)
c.1013A>G (p.Asn338Ser)
c.2840A>G (p.Asn947Ser)
c.2267A>G (p.Asn756Ser)
c.2192A>G (p.Asn731Ser)
c.869A>G (p.Asn290Ser)
3g.38894903T>GCA352175085SCN11Ac.2465A>C (p.Asn822Thr)
c.2285A>C (p.Asn762Thr)
c.2509A>C (n.2509A>C)
c.2084A>C (p.Asn695Thr)
c.1802A>C (p.Asn601Thr)
c.1013A>C (p.Asn338Thr)
c.2840A>C (p.Asn947Thr)
c.2267A>C (p.Asn756Thr)
c.2192A>C (p.Asn731Thr)
c.869A>C (p.Asn290Thr)
3g.38894904T>ACA352175086SCN11Ac.2464A>T (p.Asn822Tyr)
c.2284A>T (p.Asn762Tyr)
c.2508A>T (n.2508A>T)
c.2083A>T (p.Asn695Tyr)
c.1801A>T (p.Asn601Tyr)
c.1012A>T (p.Asn338Tyr)
c.2839A>T (p.Asn947Tyr)
c.2266A>T (p.Asn756Tyr)
c.2191A>T (p.Asn731Tyr)
c.868A>T (p.Asn290Tyr)
3g.38894904T>CCA352175087SCN11Ac.2464A>G (p.Asn822Asp)
c.2284A>G (p.Asn762Asp)
c.2508A>G (n.2508A>G)
c.2083A>G (p.Asn695Asp)
c.1801A>G (p.Asn601Asp)
c.1012A>G (p.Asn338Asp)
c.2839A>G (p.Asn947Asp)
c.2266A>G (p.Asn756Asp)
c.2191A>G (p.Asn731Asp)
c.868A>G (p.Asn290Asp)
 COSMIC
3g.38894904T>GCA352175088SCN11Ac.2464A>C (p.Asn822His)
c.2284A>C (p.Asn762His)
c.2508A>C (n.2508A>C)
c.2083A>C (p.Asn695His)
c.1801A>C (p.Asn601His)
c.1012A>C (p.Asn338His)
c.2839A>C (p.Asn947His)
c.2266A>C (p.Asn756His)
c.2191A>C (p.Asn731His)
c.868A>C (p.Asn290His)
3g.38894905T>ACA433336219SCN11Ac.2463A>T (p.Gly821=)
c.2283A>T (p.Gly761=)
c.2507A>T (n.2507A>T)
c.2082A>T (p.Gly694=)
c.1800A>T (p.Gly600=)
c.1011A>T (p.Gly337=)
c.2838A>T (p.Gly946=)
c.2265A>T (p.Gly755=)
c.2190A>T (p.Gly730=)
c.867A>T (p.Gly289=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894905T>CCA433336220SCN11Ac.2463A>G (p.Gly821=)
c.2283A>G (p.Gly761=)
c.2507A>G (n.2507A>G)
c.2082A>G (p.Gly694=)
c.1800A>G (p.Gly600=)
c.1011A>G (p.Gly337=)
c.2838A>G (p.Gly946=)
c.2265A>G (p.Gly755=)
c.2190A>G (p.Gly730=)
c.867A>G (p.Gly289=)
 gnomAD v4
3g.38894905T>GCA433336221SCN11Ac.2463A>C (p.Gly821=)
c.2283A>C (p.Gly761=)
c.2507A>C (n.2507A>C)
c.2082A>C (p.Gly694=)
c.1800A>C (p.Gly600=)
c.1011A>C (p.Gly337=)
c.2838A>C (p.Gly946=)
c.2265A>C (p.Gly755=)
c.2190A>C (p.Gly730=)
c.867A>C (p.Gly289=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894905T=CA1358718288SCN11Ac.2463A= (p.Gly821=)
c.2283A= (p.Gly761=)
c.2507A= (n.2507A=)
c.2082A= (p.Gly694=)
c.1800A= (p.Gly600=)
c.1011A= (p.Gly337=)
c.2838A= (p.Gly946=)
c.2265A= (p.Gly755=)
c.2190A= (p.Gly730=)
c.867A= (p.Gly289=)
3g.38894906C>ACA352175089SCN11Ac.2462G>T (p.Gly821Val)
c.2282G>T (p.Gly761Val)
c.2506G>T (n.2506G>T)
c.2081G>T (p.Gly694Val)
c.1799G>T (p.Gly600Val)
c.1010G>T (p.Gly337Val)
c.2837G>T (p.Gly946Val)
c.2264G>T (p.Gly755Val)
c.2189G>T (p.Gly730Val)
c.866G>T (p.Gly289Val)
 gnomAD v4
3g.38894906C>GCA352175091SCN11Ac.2462G>C (p.Gly821Ala)
c.2282G>C (p.Gly761Ala)
c.2506G>C (n.2506G>C)
c.2081G>C (p.Gly694Ala)
c.1799G>C (p.Gly600Ala)
c.1010G>C (p.Gly337Ala)
c.2837G>C (p.Gly946Ala)
c.2264G>C (p.Gly755Ala)
c.2189G>C (p.Gly730Ala)
c.866G>C (p.Gly289Ala)
3g.38894906C>TCA352175090SCN11Ac.2462G>A (p.Gly821Glu)
c.2282G>A (p.Gly761Glu)
c.2506G>A (n.2506G>A)
c.2081G>A (p.Gly694Glu)
c.1799G>A (p.Gly600Glu)
c.1010G>A (p.Gly337Glu)
c.2837G>A (p.Gly946Glu)
c.2264G>A (p.Gly755Glu)
c.2189G>A (p.Gly730Glu)
c.866G>A (p.Gly289Glu)
 ClinVar gnomAD v4 COSMIC
3g.38894907C>ACA352175092SCN11Ac.2461G>T (p.Gly821Ter)
c.2281G>T (p.Gly761Ter)
c.2505G>T (n.2505G>T)
c.2080G>T (p.Gly694Ter)
c.1798G>T (p.Gly600Ter)
c.1009G>T (p.Gly337Ter)
c.2836G>T (p.Gly946Ter)
c.2263G>T (p.Gly755Ter)
c.2188G>T (p.Gly730Ter)
c.865G>T (p.Gly289Ter)
 dbSNP
3g.38894907C=CA1358718289SCN11Ac.2461G= (p.Gly821=)
c.2281G= (p.Gly761=)
c.2505G= (n.2505G=)
c.2080G= (p.Gly694=)
c.1798G= (p.Gly600=)
c.1009G= (p.Gly337=)
c.2836G= (p.Gly946=)
c.2263G= (p.Gly755=)
c.2188G= (p.Gly730=)
c.865G= (p.Gly289=)
3g.38894907C>GCA352175093SCN11Ac.2461G>C (p.Gly821Arg)
c.2281G>C (p.Gly761Arg)
c.2505G>C (n.2505G>C)
c.2080G>C (p.Gly694Arg)
c.1798G>C (p.Gly600Arg)
c.1009G>C (p.Gly337Arg)
c.2836G>C (p.Gly946Arg)
c.2263G>C (p.Gly755Arg)
c.2188G>C (p.Gly730Arg)
c.865G>C (p.Gly289Arg)
3g.38894907C>TCA352175094SCN11Ac.2461G>A (p.Gly821Arg)
c.2281G>A (p.Gly761Arg)
c.2505G>A (n.2505G>A)
c.2080G>A (p.Gly694Arg)
c.1798G>A (p.Gly600Arg)
c.1009G>A (p.Gly337Arg)
c.2836G>A (p.Gly946Arg)
c.2263G>A (p.Gly755Arg)
c.2188G>A (p.Gly730Arg)
c.865G>A (p.Gly289Arg)
3g.38894908A>CCA352175095SCN11Ac.2460T>G (p.Asn820Lys)
c.2280T>G (p.Asn760Lys)
c.2504T>G (n.2504T>G)
c.2079T>G (p.Asn693Lys)
c.1797T>G (p.Asn599Lys)
c.1008T>G (p.Asn336Lys)
c.2835T>G (p.Asn945Lys)
c.2262T>G (p.Asn754Lys)
c.2187T>G (p.Asn729Lys)
c.864T>G (p.Asn288Lys)
3g.38894908A>GCA433336222SCN11Ac.2460T>C (p.Asn820=)
c.2280T>C (p.Asn760=)
c.2504T>C (n.2504T>C)
c.2079T>C (p.Asn693=)
c.1797T>C (p.Asn599=)
c.1008T>C (p.Asn336=)
c.2835T>C (p.Asn945=)
c.2262T>C (p.Asn754=)
c.2187T>C (p.Asn729=)
c.864T>C (p.Asn288=)
3g.38894908A>TCA352175096SCN11Ac.2460T>A (p.Asn820Lys)
c.2280T>A (p.Asn760Lys)
c.2504T>A (n.2504T>A)
c.2079T>A (p.Asn693Lys)
c.1797T>A (p.Asn599Lys)
c.1008T>A (p.Asn336Lys)
c.2835T>A (p.Asn945Lys)
c.2262T>A (p.Asn754Lys)
c.2187T>A (p.Asn729Lys)
c.864T>A (p.Asn288Lys)
3g.38894909T>ACA352175097SCN11Ac.2459A>T (p.Asn820Ile)
c.2279A>T (p.Asn760Ile)
c.2503A>T (n.2503A>T)
c.2078A>T (p.Asn693Ile)
c.1796A>T (p.Asn599Ile)
c.1007A>T (p.Asn336Ile)
c.2834A>T (p.Asn945Ile)
c.2261A>T (p.Asn754Ile)
c.2186A>T (p.Asn729Ile)
c.863A>T (p.Asn288Ile)
 dbSNP
3g.38894909T>CCA352175098SCN11Ac.2459A>G (p.Asn820Ser)
c.2279A>G (p.Asn760Ser)
c.2503A>G (n.2503A>G)
c.2078A>G (p.Asn693Ser)
c.1796A>G (p.Asn599Ser)
c.1007A>G (p.Asn336Ser)
c.2834A>G (p.Asn945Ser)
c.2261A>G (p.Asn754Ser)
c.2186A>G (p.Asn729Ser)
c.863A>G (p.Asn288Ser)
 ClinVar
3g.38894909T>GCA352175099SCN11Ac.2459A>C (p.Asn820Thr)
c.2279A>C (p.Asn760Thr)
c.2503A>C (n.2503A>C)
c.2078A>C (p.Asn693Thr)
c.1796A>C (p.Asn599Thr)
c.1007A>C (p.Asn336Thr)
c.2834A>C (p.Asn945Thr)
c.2261A>C (p.Asn754Thr)
c.2186A>C (p.Asn729Thr)
c.863A>C (p.Asn288Thr)
3g.38894909T=CA1358718290SCN11Ac.2459A= (p.Asn820=)
c.2279A= (p.Asn760=)
c.2503A= (n.2503A=)
c.2078A= (p.Asn693=)
c.1796A= (p.Asn599=)
c.1007A= (p.Asn336=)
c.2834A= (p.Asn945=)
c.2261A= (p.Asn754=)
c.2186A= (p.Asn729=)
c.863A= (p.Asn288=)
3g.38894909_38894911delCA2665127324SCN11Ac.2457_2459del (p.Arg819_Asn820delinsSer)
c.2277_2279del (p.Arg759_Asn760delinsSer)
c.2501_2503del (n.2501_2503del)
c.2076_2078del (p.Arg692_Asn693delinsSer)
c.1794_1796del (p.Arg598_Asn599delinsSer)
c.1005_1007del (p.Arg335_Asn336delinsSer)
c.2832_2834del (p.Arg944_Asn945delinsSer)
c.2259_2261del (p.Arg753_Asn754delinsSer)
c.2184_2186del (p.Arg728_Asn729delinsSer)
c.861_863del (p.Arg287_Asn288delinsSer)
 gnomAD v4
3g.38894910T>ACA2322033SCN11Ac.2458A>T (p.Asn820Tyr)
c.2278A>T (p.Asn760Tyr)
c.2502A>T (n.2502A>T)
c.2077A>T (p.Asn693Tyr)
c.1795A>T (p.Asn599Tyr)
c.1006A>T (p.Asn336Tyr)
c.2833A>T (p.Asn945Tyr)
c.2260A>T (p.Asn754Tyr)
c.2185A>T (p.Asn729Tyr)
c.862A>T (p.Asn288Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894910T>CCA352175100SCN11Ac.2458A>G (p.Asn820Asp)
c.2278A>G (p.Asn760Asp)
c.2502A>G (n.2502A>G)
c.2077A>G (p.Asn693Asp)
c.1795A>G (p.Asn599Asp)
c.1006A>G (p.Asn336Asp)
c.2833A>G (p.Asn945Asp)
c.2260A>G (p.Asn754Asp)
c.2185A>G (p.Asn729Asp)
c.862A>G (p.Asn288Asp)
3g.38894910T>GCA352175101SCN11Ac.2458A>C (p.Asn820His)
c.2278A>C (p.Asn760His)
c.2502A>C (n.2502A>C)
c.2077A>C (p.Asn693His)
c.1795A>C (p.Asn599His)
c.1006A>C (p.Asn336His)
c.2833A>C (p.Asn945His)
c.2260A>C (p.Asn754His)
c.2185A>C (p.Asn729His)
c.862A>C (p.Asn288His)
3g.38894910T=CA1358718291SCN11Ac.2458A= (p.Asn820=)
c.2278A= (p.Asn760=)
c.2502A= (n.2502A=)
c.2077A= (p.Asn693=)
c.1795A= (p.Asn599=)
c.1006A= (p.Asn336=)
c.2833A= (p.Asn945=)
c.2260A= (p.Asn754=)
c.2185A= (p.Asn729=)
c.862A= (p.Asn288=)
3g.38894911T>ACA352175103SCN11Ac.2457A>T (p.Arg819Ser)
c.2277A>T (p.Arg759Ser)
c.2501A>T (n.2501A>T)
c.2076A>T (p.Arg692Ser)
c.1794A>T (p.Arg598Ser)
c.1005A>T (p.Arg335Ser)
c.2832A>T (p.Arg944Ser)
c.2259A>T (p.Arg753Ser)
c.2184A>T (p.Arg728Ser)
c.861A>T (p.Arg287Ser)
3g.38894911T>CCA433336223SCN11Ac.2457A>G (p.Arg819=)
c.2277A>G (p.Arg759=)
c.2501A>G (n.2501A>G)
c.2076A>G (p.Arg692=)
c.1794A>G (p.Arg598=)
c.1005A>G (p.Arg335=)
c.2832A>G (p.Arg944=)
c.2259A>G (p.Arg753=)
c.2184A>G (p.Arg728=)
c.861A>G (p.Arg287=)
3g.38894911T>GCA352175102SCN11Ac.2457A>C (p.Arg819Ser)
c.2277A>C (p.Arg759Ser)
c.2501A>C (n.2501A>C)
c.2076A>C (p.Arg692Ser)
c.1794A>C (p.Arg598Ser)
c.1005A>C (p.Arg335Ser)
c.2832A>C (p.Arg944Ser)
c.2259A>C (p.Arg753Ser)
c.2184A>C (p.Arg728Ser)
c.861A>C (p.Arg287Ser)
3g.38894912C>ACA352175104SCN11Ac.2456G>T (p.Arg819Ile)
c.2276G>T (p.Arg759Ile)
c.2500G>T (n.2500G>T)
c.2075G>T (p.Arg692Ile)
c.1793G>T (p.Arg598Ile)
c.1004G>T (p.Arg335Ile)
c.2831G>T (p.Arg944Ile)
c.2258G>T (p.Arg753Ile)
c.2183G>T (p.Arg728Ile)
c.860G>T (p.Arg287Ile)
 gnomAD v4 COSMIC
3g.38894912C>GCA352175105SCN11Ac.2456G>C (p.Arg819Thr)
c.2276G>C (p.Arg759Thr)
c.2500G>C (n.2500G>C)
c.2075G>C (p.Arg692Thr)
c.1793G>C (p.Arg598Thr)
c.1004G>C (p.Arg335Thr)
c.2831G>C (p.Arg944Thr)
c.2258G>C (p.Arg753Thr)
c.2183G>C (p.Arg728Thr)
c.860G>C (p.Arg287Thr)
3g.38894912C>TCA352175106SCN11Ac.2456G>A (p.Arg819Lys)
c.2276G>A (p.Arg759Lys)
c.2500G>A (n.2500G>A)
c.2075G>A (p.Arg692Lys)
c.1793G>A (p.Arg598Lys)
c.1004G>A (p.Arg335Lys)
c.2831G>A (p.Arg944Lys)
c.2258G>A (p.Arg753Lys)
c.2183G>A (p.Arg728Lys)
c.860G>A (p.Arg287Lys)
 COSMIC
3g.38894913T>ACA352175107SCN11Ac.2455A>T (p.Arg819Ter)
c.2275A>T (p.Arg759Ter)
c.2499A>T (n.2499A>T)
c.2074A>T (p.Arg692Ter)
c.1792A>T (p.Arg598Ter)
c.1003A>T (p.Arg335Ter)
c.2830A>T (p.Arg944Ter)
c.2257A>T (p.Arg753Ter)
c.2182A>T (p.Arg728Ter)
c.859A>T (p.Arg287Ter)
 dbSNP
3g.38894913T>CCA352175108SCN11Ac.2455A>G (p.Arg819Gly)
c.2275A>G (p.Arg759Gly)
c.2499A>G (n.2499A>G)
c.2074A>G (p.Arg692Gly)
c.1792A>G (p.Arg598Gly)
c.1003A>G (p.Arg335Gly)
c.2830A>G (p.Arg944Gly)
c.2257A>G (p.Arg753Gly)
c.2182A>G (p.Arg728Gly)
c.859A>G (p.Arg287Gly)
 ClinVar dbSNP gnomAD v4
3g.38894913T>GCA433336224SCN11Ac.2455A>C (p.Arg819=)
c.2275A>C (p.Arg759=)
c.2499A>C (n.2499A>C)
c.2074A>C (p.Arg692=)
c.1792A>C (p.Arg598=)
c.1003A>C (p.Arg335=)
c.2830A>C (p.Arg944=)
c.2257A>C (p.Arg753=)
c.2182A>C (p.Arg728=)
c.859A>C (p.Arg287=)
3g.38894913T=CA1358718292SCN11Ac.2455A= (p.Arg819=)
c.2275A= (p.Arg759=)
c.2499A= (n.2499A=)
c.2074A= (p.Arg692=)
c.1792A= (p.Arg598=)
c.1003A= (p.Arg335=)
c.2830A= (p.Arg944=)
c.2257A= (p.Arg753=)
c.2182A= (p.Arg728=)
c.859A= (p.Arg287=)
3g.38894915dupCA645525913SCN11Ac.2455dup (p.Arg819LysfsTer13)
c.2275dup (p.Arg759LysfsTer13)
c.2499dup (n.2499dup)
c.2074dup (p.Arg692LysfsTer13)
c.1792dup (p.Arg598LysfsTer13)
c.1003dup (p.Arg335LysfsTer13)
c.2830dup (p.Arg944LysfsTer13)
c.2257dup (p.Arg753LysfsTer13)
c.2182dup (p.Arg728LysfsTer13)
c.859dup (p.Arg287LysfsTer13)
 COSMIC
3g.38894915delCA2665127325SCN11Ac.2455del (p.Arg819GlufsTer5)
c.2275del (p.Arg759GlufsTer5)
c.2499del (n.2499del)
c.2074del (p.Arg692GlufsTer5)
c.1792del (p.Arg598GlufsTer5)
c.1003del (p.Arg335GlufsTer5)
c.2830del (p.Arg944GlufsTer5)
c.2257del (p.Arg753GlufsTer5)
c.2182del (p.Arg728GlufsTer5)
c.859del (p.Arg287GlufsTer5)
 gnomAD v4
3g.38894914T>ACA352175109SCN11Ac.2454A>T (p.Glu818Asp)
c.2274A>T (p.Glu758Asp)
c.2498A>T (n.2498A>T)
c.2073A>T (p.Glu691Asp)
c.1791A>T (p.Glu597Asp)
c.1002A>T (p.Glu334Asp)
c.2829A>T (p.Glu943Asp)
c.2256A>T (p.Glu752Asp)
c.2181A>T (p.Glu727Asp)
c.858A>T (p.Glu286Asp)
3g.38894914T>CCA433336225SCN11Ac.2454A>G (p.Glu818=)
c.2274A>G (p.Glu758=)
c.2498A>G (n.2498A>G)
c.2073A>G (p.Glu691=)
c.1791A>G (p.Glu597=)
c.1002A>G (p.Glu334=)
c.2829A>G (p.Glu943=)
c.2256A>G (p.Glu752=)
c.2181A>G (p.Glu727=)
c.858A>G (p.Glu286=)
 gnomAD v4
3g.38894914T>GCA352175110SCN11Ac.2454A>C (p.Glu818Asp)
c.2274A>C (p.Glu758Asp)
c.2498A>C (n.2498A>C)
c.2073A>C (p.Glu691Asp)
c.1791A>C (p.Glu597Asp)
c.1002A>C (p.Glu334Asp)
c.2829A>C (p.Glu943Asp)
c.2256A>C (p.Glu752Asp)
c.2181A>C (p.Glu727Asp)
c.858A>C (p.Glu286Asp)
3g.38894915T>ACA352175111SCN11Ac.2453A>T (p.Glu818Val)
c.2273A>T (p.Glu758Val)
c.2497A>T (n.2497A>T)
c.2072A>T (p.Glu691Val)
c.1790A>T (p.Glu597Val)
c.1001A>T (p.Glu334Val)
c.2828A>T (p.Glu943Val)
c.2255A>T (p.Glu752Val)
c.2180A>T (p.Glu727Val)
c.857A>T (p.Glu286Val)
3g.38894915T>CCA352175112SCN11Ac.2453A>G (p.Glu818Gly)
c.2273A>G (p.Glu758Gly)
c.2497A>G (n.2497A>G)
c.2072A>G (p.Glu691Gly)
c.1790A>G (p.Glu597Gly)
c.1001A>G (p.Glu334Gly)
c.2828A>G (p.Glu943Gly)
c.2255A>G (p.Glu752Gly)
c.2180A>G (p.Glu727Gly)
c.857A>G (p.Glu286Gly)
3g.38894915T>GCA352175113SCN11Ac.2453A>C (p.Glu818Ala)
c.2273A>C (p.Glu758Ala)
c.2497A>C (n.2497A>C)
c.2072A>C (p.Glu691Ala)
c.1790A>C (p.Glu597Ala)
c.1001A>C (p.Glu334Ala)
c.2828A>C (p.Glu943Ala)
c.2255A>C (p.Glu752Ala)
c.2180A>C (p.Glu727Ala)
c.857A>C (p.Glu286Ala)
3g.38894916C>ACA352175114SCN11Ac.2452G>T (p.Glu818Ter)
c.2272G>T (p.Glu758Ter)
c.2496G>T (n.2496G>T)
c.2071G>T (p.Glu691Ter)
c.1789G>T (p.Glu597Ter)
c.1000G>T (p.Glu334Ter)
c.2827G>T (p.Glu943Ter)
c.2254G>T (p.Glu752Ter)
c.2179G>T (p.Glu727Ter)
c.856G>T (p.Glu286Ter)
 ClinVar dbSNP gnomAD v4
3g.38894916C=CA1358718293SCN11Ac.2452G= (p.Glu818=)
c.2272G= (p.Glu758=)
c.2496G= (n.2496G=)
c.2071G= (p.Glu691=)
c.1789G= (p.Glu597=)
c.1000G= (p.Glu334=)
c.2827G= (p.Glu943=)
c.2254G= (p.Glu752=)
c.2179G= (p.Glu727=)
c.856G= (p.Glu286=)
3g.38894916C>GCA352175115SCN11Ac.2452G>C (p.Glu818Gln)
c.2272G>C (p.Glu758Gln)
c.2496G>C (n.2496G>C)
c.2071G>C (p.Glu691Gln)
c.1789G>C (p.Glu597Gln)
c.1000G>C (p.Glu334Gln)
c.2827G>C (p.Glu943Gln)
c.2254G>C (p.Glu752Gln)
c.2179G>C (p.Glu727Gln)
c.856G>C (p.Glu286Gln)
3g.38894916C>TCA352175116SCN11Ac.2452G>A (p.Glu818Lys)
c.2272G>A (p.Glu758Lys)
c.2496G>A (n.2496G>A)
c.2071G>A (p.Glu691Lys)
c.1789G>A (p.Glu597Lys)
c.1000G>A (p.Glu334Lys)
c.2827G>A (p.Glu943Lys)
c.2254G>A (p.Glu752Lys)
c.2179G>A (p.Glu727Lys)
c.856G>A (p.Glu286Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.38894917C>ACA352175118SCN11Ac.2451G>T (p.Glu817Asp)
c.2271G>T (p.Glu757Asp)
c.2495G>T (n.2495G>T)
c.2070G>T (p.Glu690Asp)
c.1788G>T (p.Glu596Asp)
c.999G>T (p.Glu333Asp)
c.2826G>T (p.Glu942Asp)
c.2253G>T (p.Glu751Asp)
c.2178G>T (p.Glu726Asp)
c.855G>T (p.Glu285Asp)
 gnomAD v4
3g.38894917C>GCA352175117SCN11Ac.2451G>C (p.Glu817Asp)
c.2271G>C (p.Glu757Asp)
c.2495G>C (n.2495G>C)
c.2070G>C (p.Glu690Asp)
c.1788G>C (p.Glu596Asp)
c.999G>C (p.Glu333Asp)
c.2826G>C (p.Glu942Asp)
c.2253G>C (p.Glu751Asp)
c.2178G>C (p.Glu726Asp)
c.855G>C (p.Glu285Asp)
3g.38894917C>TCA433336226SCN11Ac.2451G>A (p.Glu817=)
c.2271G>A (p.Glu757=)
c.2495G>A (n.2495G>A)
c.2070G>A (p.Glu690=)
c.1788G>A (p.Glu596=)
c.999G>A (p.Glu333=)
c.2826G>A (p.Glu942=)
c.2253G>A (p.Glu751=)
c.2178G>A (p.Glu726=)
c.855G>A (p.Glu285=)
3g.38894918T>ACA352175119SCN11Ac.2450A>T (p.Glu817Val)
c.2270A>T (p.Glu757Val)
c.2494A>T (n.2494A>T)
c.2069A>T (p.Glu690Val)
c.1787A>T (p.Glu596Val)
c.998A>T (p.Glu333Val)
c.2825A>T (p.Glu942Val)
c.2252A>T (p.Glu751Val)
c.2177A>T (p.Glu726Val)
c.854A>T (p.Glu285Val)
3g.38894918T>CCA352175120SCN11Ac.2450A>G (p.Glu817Gly)
c.2270A>G (p.Glu757Gly)
c.2494A>G (n.2494A>G)
c.2069A>G (p.Glu690Gly)
c.1787A>G (p.Glu596Gly)
c.998A>G (p.Glu333Gly)
c.2825A>G (p.Glu942Gly)
c.2252A>G (p.Glu751Gly)
c.2177A>G (p.Glu726Gly)
c.854A>G (p.Glu285Gly)
3g.38894918T>GCA352175121SCN11Ac.2450A>C (p.Glu817Ala)
c.2270A>C (p.Glu757Ala)
c.2494A>C (n.2494A>C)
c.2069A>C (p.Glu690Ala)
c.1787A>C (p.Glu596Ala)
c.998A>C (p.Glu333Ala)
c.2825A>C (p.Glu942Ala)
c.2252A>C (p.Glu751Ala)
c.2177A>C (p.Glu726Ala)
c.854A>C (p.Glu285Ala)
3g.38894919C>ACA352175122SCN11Ac.2449G>T (p.Glu817Ter)
c.2269G>T (p.Glu757Ter)
c.2493G>T (n.2493G>T)
c.2068G>T (p.Glu690Ter)
c.1786G>T (p.Glu596Ter)
c.997G>T (p.Glu333Ter)
c.2824G>T (p.Glu942Ter)
c.2251G>T (p.Glu751Ter)
c.2176G>T (p.Glu726Ter)
c.853G>T (p.Glu285Ter)
 dbSNP
3g.38894919C=CA1358718294SCN11Ac.2449G= (p.Glu817=)
c.2269G= (p.Glu757=)
c.2493G= (n.2493G=)
c.2068G= (p.Glu690=)
c.1786G= (p.Glu596=)
c.997G= (p.Glu333=)
c.2824G= (p.Glu942=)
c.2251G= (p.Glu751=)
c.2176G= (p.Glu726=)
c.853G= (p.Glu285=)
3g.38894919C>GCA352175123SCN11Ac.2449G>C (p.Glu817Gln)
c.2269G>C (p.Glu757Gln)
c.2493G>C (n.2493G>C)
c.2068G>C (p.Glu690Gln)
c.1786G>C (p.Glu596Gln)
c.997G>C (p.Glu333Gln)
c.2824G>C (p.Glu942Gln)
c.2251G>C (p.Glu751Gln)
c.2176G>C (p.Glu726Gln)
c.853G>C (p.Glu285Gln)
3g.38894919C>TCA352175124SCN11Ac.2449G>A (p.Glu817Lys)
c.2269G>A (p.Glu757Lys)
c.2493G>A (n.2493G>A)
c.2068G>A (p.Glu690Lys)
c.1786G>A (p.Glu596Lys)
c.997G>A (p.Glu333Lys)
c.2824G>A (p.Glu942Lys)
c.2251G>A (p.Glu751Lys)
c.2176G>A (p.Glu726Lys)
c.853G>A (p.Glu285Lys)
 gnomAD v4
3g.38894920A=CA1358718295SCN11Ac.2448T= (p.Asn816=)
c.2268T= (p.Asn756=)
c.2492T= (n.2492T=)
c.2067T= (p.Asn689=)
c.1785T= (p.Asn595=)
c.996T= (p.Asn332=)
c.2823T= (p.Asn941=)
c.2250T= (p.Asn750=)
c.2175T= (p.Asn725=)
c.852T= (p.Asn284=)
3g.38894920A>CCA352175125SCN11Ac.2448T>G (p.Asn816Lys)
c.2268T>G (p.Asn756Lys)
c.2492T>G (n.2492T>G)
c.2067T>G (p.Asn689Lys)
c.1785T>G (p.Asn595Lys)
c.996T>G (p.Asn332Lys)
c.2823T>G (p.Asn941Lys)
c.2250T>G (p.Asn750Lys)
c.2175T>G (p.Asn725Lys)
c.852T>G (p.Asn284Lys)
3g.38894920A>GCA433336227SCN11Ac.2448T>C (p.Asn816=)
c.2268T>C (p.Asn756=)
c.2492T>C (n.2492T>C)
c.2067T>C (p.Asn689=)
c.1785T>C (p.Asn595=)
c.996T>C (p.Asn332=)
c.2823T>C (p.Asn941=)
c.2250T>C (p.Asn750=)
c.2175T>C (p.Asn725=)
c.852T>C (p.Asn284=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894920A>TCA2322034SCN11Ac.2448T>A (p.Asn816Lys)
c.2268T>A (p.Asn756Lys)
c.2492T>A (n.2492T>A)
c.2067T>A (p.Asn689Lys)
c.1785T>A (p.Asn595Lys)
c.996T>A (p.Asn332Lys)
c.2823T>A (p.Asn941Lys)
c.2250T>A (p.Asn750Lys)
c.2175T>A (p.Asn725Lys)
c.852T>A (p.Asn284Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894921T>ACA352175126SCN11Ac.2447A>T (p.Asn816Ile)
c.2267A>T (p.Asn756Ile)
c.2491A>T (n.2491A>T)
c.2066A>T (p.Asn689Ile)
c.1784A>T (p.Asn595Ile)
c.995A>T (p.Asn332Ile)
c.2822A>T (p.Asn941Ile)
c.2249A>T (p.Asn750Ile)
c.2174A>T (p.Asn725Ile)
c.851A>T (p.Asn284Ile)
3g.38894921T>CCA352175127SCN11Ac.2447A>G (p.Asn816Ser)
c.2267A>G (p.Asn756Ser)
c.2491A>G (n.2491A>G)
c.2066A>G (p.Asn689Ser)
c.1784A>G (p.Asn595Ser)
c.995A>G (p.Asn332Ser)
c.2822A>G (p.Asn941Ser)
c.2249A>G (p.Asn750Ser)
c.2174A>G (p.Asn725Ser)
c.851A>G (p.Asn284Ser)
3g.38894921T>GCA352175128SCN11Ac.2447A>C (p.Asn816Thr)
c.2267A>C (p.Asn756Thr)
c.2491A>C (n.2491A>C)
c.2066A>C (p.Asn689Thr)
c.1784A>C (p.Asn595Thr)
c.995A>C (p.Asn332Thr)
c.2822A>C (p.Asn941Thr)
c.2249A>C (p.Asn750Thr)
c.2174A>C (p.Asn725Thr)
c.851A>C (p.Asn284Thr)
3g.38894922T>ACA352175129SCN11Ac.2446A>T (p.Asn816Tyr)
c.2266A>T (p.Asn756Tyr)
c.2490A>T (n.2490A>T)
c.2065A>T (p.Asn689Tyr)
c.1783A>T (p.Asn595Tyr)
c.994A>T (p.Asn332Tyr)
c.2821A>T (p.Asn941Tyr)
c.2248A>T (p.Asn750Tyr)
c.2173A>T (p.Asn725Tyr)
c.850A>T (p.Asn284Tyr)
3g.38894922T>CCA352175130SCN11Ac.2446A>G (p.Asn816Asp)
c.2266A>G (p.Asn756Asp)
c.2490A>G (n.2490A>G)
c.2065A>G (p.Asn689Asp)
c.1783A>G (p.Asn595Asp)
c.994A>G (p.Asn332Asp)
c.2821A>G (p.Asn941Asp)
c.2248A>G (p.Asn750Asp)
c.2173A>G (p.Asn725Asp)
c.850A>G (p.Asn284Asp)
3g.38894922T>GCA352175131SCN11Ac.2446A>C (p.Asn816His)
c.2266A>C (p.Asn756His)
c.2490A>C (n.2490A>C)
c.2065A>C (p.Asn689His)
c.1783A>C (p.Asn595His)
c.994A>C (p.Asn332His)
c.2821A>C (p.Asn941His)
c.2248A>C (p.Asn750His)
c.2173A>C (p.Asn725His)
c.850A>C (p.Asn284His)
3g.38894923G>ACA433336228SCN11Ac.2445C>T (p.Ser815=)
c.2265C>T (p.Ser755=)
c.2489C>T (n.2489C>T)
c.2064C>T (p.Ser688=)
c.1782C>T (p.Ser594=)
c.993C>T (p.Ser331=)
c.2820C>T (p.Ser940=)
c.2247C>T (p.Ser749=)
c.2172C>T (p.Ser724=)
c.849C>T (p.Ser283=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894923G>CCA352175132SCN11Ac.2445C>G (p.Ser815Arg)
c.2265C>G (p.Ser755Arg)
c.2489C>G (n.2489C>G)
c.2064C>G (p.Ser688Arg)
c.1782C>G (p.Ser594Arg)
c.993C>G (p.Ser331Arg)
c.2820C>G (p.Ser940Arg)
c.2247C>G (p.Ser749Arg)
c.2172C>G (p.Ser724Arg)
c.849C>G (p.Ser283Arg)
3g.38894923G=CA1358718296SCN11Ac.2445C= (p.Ser815=)
c.2265C= (p.Ser755=)
c.2489C= (n.2489C=)
c.2064C= (p.Ser688=)
c.1782C= (p.Ser594=)
c.993C= (p.Ser331=)
c.2820C= (p.Ser940=)
c.2247C= (p.Ser749=)
c.2172C= (p.Ser724=)
c.849C= (p.Ser283=)
3g.38894923G>TCA352175133SCN11Ac.2445C>A (p.Ser815Arg)
c.2265C>A (p.Ser755Arg)
c.2489C>A (n.2489C>A)
c.2064C>A (p.Ser688Arg)
c.1782C>A (p.Ser594Arg)
c.993C>A (p.Ser331Arg)
c.2820C>A (p.Ser940Arg)
c.2247C>A (p.Ser749Arg)
c.2172C>A (p.Ser724Arg)
c.849C>A (p.Ser283Arg)
3g.38894924C>ACA352175134SCN11Ac.2444G>T (p.Ser815Ile)
c.2264G>T (p.Ser755Ile)
c.2488G>T (n.2488G>T)
c.2063G>T (p.Ser688Ile)
c.1781G>T (p.Ser594Ile)
c.992G>T (p.Ser331Ile)
c.2819G>T (p.Ser940Ile)
c.2246G>T (p.Ser749Ile)
c.2171G>T (p.Ser724Ile)
c.848G>T (p.Ser283Ile)
3g.38894924C=CA1358718297SCN11Ac.2444G= (p.Ser815=)
c.2264G= (p.Ser755=)
c.2488G= (n.2488G=)
c.2063G= (p.Ser688=)
c.1781G= (p.Ser594=)
c.992G= (p.Ser331=)
c.2819G= (p.Ser940=)
c.2246G= (p.Ser749=)
c.2171G= (p.Ser724=)
c.848G= (p.Ser283=)
3g.38894924C>GCA352175136SCN11Ac.2444G>C (p.Ser815Thr)
c.2264G>C (p.Ser755Thr)
c.2488G>C (n.2488G>C)
c.2063G>C (p.Ser688Thr)
c.1781G>C (p.Ser594Thr)
c.992G>C (p.Ser331Thr)
c.2819G>C (p.Ser940Thr)
c.2246G>C (p.Ser749Thr)
c.2171G>C (p.Ser724Thr)
c.848G>C (p.Ser283Thr)
3g.38894924C>TCA352175135SCN11Ac.2444G>A (p.Ser815Asn)
c.2264G>A (p.Ser755Asn)
c.2488G>A (n.2488G>A)
c.2063G>A (p.Ser688Asn)
c.1781G>A (p.Ser594Asn)
c.992G>A (p.Ser331Asn)
c.2819G>A (p.Ser940Asn)
c.2246G>A (p.Ser749Asn)
c.2171G>A (p.Ser724Asn)
c.848G>A (p.Ser283Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.38894925T>ACA352175137SCN11Ac.2443A>T (p.Ser815Cys)
c.2263A>T (p.Ser755Cys)
c.2487A>T (n.2487A>T)
c.2062A>T (p.Ser688Cys)
c.1780A>T (p.Ser594Cys)
c.991A>T (p.Ser331Cys)
c.2818A>T (p.Ser940Cys)
c.2245A>T (p.Ser749Cys)
c.2170A>T (p.Ser724Cys)
c.847A>T (p.Ser283Cys)
3g.38894925T>CCA352175138SCN11Ac.2443A>G (p.Ser815Gly)
c.2263A>G (p.Ser755Gly)
c.2487A>G (n.2487A>G)
c.2062A>G (p.Ser688Gly)
c.1780A>G (p.Ser594Gly)
c.991A>G (p.Ser331Gly)
c.2818A>G (p.Ser940Gly)
c.2245A>G (p.Ser749Gly)
c.2170A>G (p.Ser724Gly)
c.847A>G (p.Ser283Gly)
3g.38894925T>GCA2322035SCN11Ac.2443A>C (p.Ser815Arg)
c.2263A>C (p.Ser755Arg)
c.2487A>C (n.2487A>C)
c.2062A>C (p.Ser688Arg)
c.1780A>C (p.Ser594Arg)
c.991A>C (p.Ser331Arg)
c.2818A>C (p.Ser940Arg)
c.2245A>C (p.Ser749Arg)
c.2170A>C (p.Ser724Arg)
c.847A>C (p.Ser283Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894925T=CA1358718298SCN11Ac.2443A= (p.Ser815=)
c.2263A= (p.Ser755=)
c.2487A= (n.2487A=)
c.2062A= (p.Ser688=)
c.1780A= (p.Ser594=)
c.991A= (p.Ser331=)
c.2818A= (p.Ser940=)
c.2245A= (p.Ser749=)
c.2170A= (p.Ser724=)
c.847A= (p.Ser283=)
3g.38894926A>CCA352175139SCN11Ac.2442T>G (p.Phe814Leu)
c.2262T>G (p.Phe754Leu)
c.2486T>G (n.2486T>G)
c.2061T>G (p.Phe687Leu)
c.1779T>G (p.Phe593Leu)
c.990T>G (p.Phe330Leu)
c.2817T>G (p.Phe939Leu)
c.2244T>G (p.Phe748Leu)
c.2169T>G (p.Phe723Leu)
c.846T>G (p.Phe282Leu)
3g.38894926A>GCA433336229SCN11Ac.2442T>C (p.Phe814=)
c.2262T>C (p.Phe754=)
c.2486T>C (n.2486T>C)
c.2061T>C (p.Phe687=)
c.1779T>C (p.Phe593=)
c.990T>C (p.Phe330=)
c.2817T>C (p.Phe939=)
c.2244T>C (p.Phe748=)
c.2169T>C (p.Phe723=)
c.846T>C (p.Phe282=)
3g.38894926A>TCA352175140SCN11Ac.2442T>A (p.Phe814Leu)
c.2262T>A (p.Phe754Leu)
c.2486T>A (n.2486T>A)
c.2061T>A (p.Phe687Leu)
c.1779T>A (p.Phe593Leu)
c.990T>A (p.Phe330Leu)
c.2817T>A (p.Phe939Leu)
c.2244T>A (p.Phe748Leu)
c.2169T>A (p.Phe723Leu)
c.846T>A (p.Phe282Leu)
3g.38894927A>CCA352175141SCN11Ac.2441T>G (p.Phe814Cys)
c.2261T>G (p.Phe754Cys)
c.2485T>G (n.2485T>G)
c.2060T>G (p.Phe687Cys)
c.1778T>G (p.Phe593Cys)
c.989T>G (p.Phe330Cys)
c.2816T>G (p.Phe939Cys)
c.2243T>G (p.Phe748Cys)
c.2168T>G (p.Phe723Cys)
c.845T>G (p.Phe282Cys)
3g.38894927A>GCA352175142SCN11Ac.2441T>C (p.Phe814Ser)
c.2261T>C (p.Phe754Ser)
c.2485T>C (n.2485T>C)
c.2060T>C (p.Phe687Ser)
c.1778T>C (p.Phe593Ser)
c.989T>C (p.Phe330Ser)
c.2816T>C (p.Phe939Ser)
c.2243T>C (p.Phe748Ser)
c.2168T>C (p.Phe723Ser)
c.845T>C (p.Phe282Ser)
3g.38894927A>TCA352175143SCN11Ac.2441T>A (p.Phe814Tyr)
c.2261T>A (p.Phe754Tyr)
c.2485T>A (n.2485T>A)
c.2060T>A (p.Phe687Tyr)
c.1778T>A (p.Phe593Tyr)
c.989T>A (p.Phe330Tyr)
c.2816T>A (p.Phe939Tyr)
c.2243T>A (p.Phe748Tyr)
c.2168T>A (p.Phe723Tyr)
c.845T>A (p.Phe282Tyr)
3g.38894928A>CCA352175144SCN11Ac.2440T>G (p.Phe814Val)
c.2260T>G (p.Phe754Val)
c.2484T>G (n.2484T>G)
c.2059T>G (p.Phe687Val)
c.1777T>G (p.Phe593Val)
c.988T>G (p.Phe330Val)
c.2815T>G (p.Phe939Val)
c.2242T>G (p.Phe748Val)
c.2167T>G (p.Phe723Val)
c.844T>G (p.Phe282Val)
3g.38894928A>GCA352175145SCN11Ac.2440T>C (p.Phe814Leu)
c.2260T>C (p.Phe754Leu)
c.2484T>C (n.2484T>C)
c.2059T>C (p.Phe687Leu)
c.1777T>C (p.Phe593Leu)
c.988T>C (p.Phe330Leu)
c.2815T>C (p.Phe939Leu)
c.2242T>C (p.Phe748Leu)
c.2167T>C (p.Phe723Leu)
c.844T>C (p.Phe282Leu)
3g.38894928A>TCA352175146SCN11Ac.2440T>A (p.Phe814Ile)
c.2260T>A (p.Phe754Ile)
c.2484T>A (n.2484T>A)
c.2059T>A (p.Phe687Ile)
c.1777T>A (p.Phe593Ile)
c.988T>A (p.Phe330Ile)
c.2815T>A (p.Phe939Ile)
c.2242T>A (p.Phe748Ile)
c.2167T>A (p.Phe723Ile)
c.844T>A (p.Phe282Ile)
3g.38894929G>ACA433336230SCN11Ac.2439C>T (p.Ser813=)
c.2259C>T (p.Ser753=)
c.2483C>T (n.2483C>T)
c.2058C>T (p.Ser686=)
c.1776C>T (p.Ser592=)
c.987C>T (p.Ser329=)
c.2814C>T (p.Ser938=)
c.2241C>T (p.Ser747=)
c.2166C>T (p.Ser722=)
c.843C>T (p.Ser281=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894929G>CCA433336232SCN11Ac.2439C>G (p.Ser813=)
c.2259C>G (p.Ser753=)
c.2483C>G (n.2483C>G)
c.2058C>G (p.Ser686=)
c.1776C>G (p.Ser592=)
c.987C>G (p.Ser329=)
c.2814C>G (p.Ser938=)
c.2241C>G (p.Ser747=)
c.2166C>G (p.Ser722=)
c.843C>G (p.Ser281=)
 gnomAD v4
3g.38894929G=CA1358718299SCN11Ac.2439C= (p.Ser813=)
c.2259C= (p.Ser753=)
c.2483C= (n.2483C=)
c.2058C= (p.Ser686=)
c.1776C= (p.Ser592=)
c.987C= (p.Ser329=)
c.2814C= (p.Ser938=)
c.2241C= (p.Ser747=)
c.2166C= (p.Ser722=)
c.843C= (p.Ser281=)
3g.38894929G>TCA433336231SCN11Ac.2439C>A (p.Ser813=)
c.2259C>A (p.Ser753=)
c.2483C>A (n.2483C>A)
c.2058C>A (p.Ser686=)
c.1776C>A (p.Ser592=)
c.987C>A (p.Ser329=)
c.2814C>A (p.Ser938=)
c.2241C>A (p.Ser747=)
c.2166C>A (p.Ser722=)
c.843C>A (p.Ser281=)
3g.38894930G>ACA352175147SCN11Ac.2438C>T (p.Ser813Phe)
c.2258C>T (p.Ser753Phe)
c.2482C>T (n.2482C>T)
c.2057C>T (p.Ser686Phe)
c.1775C>T (p.Ser592Phe)
c.986C>T (p.Ser329Phe)
c.2813C>T (p.Ser938Phe)
c.2240C>T (p.Ser747Phe)
c.2165C>T (p.Ser722Phe)
c.842C>T (p.Ser281Phe)
 dbSNP COSMIC
3g.38894930G>CCA352175148SCN11Ac.2438C>G (p.Ser813Cys)
c.2258C>G (p.Ser753Cys)
c.2482C>G (n.2482C>G)
c.2057C>G (p.Ser686Cys)
c.1775C>G (p.Ser592Cys)
c.986C>G (p.Ser329Cys)
c.2813C>G (p.Ser938Cys)
c.2240C>G (p.Ser747Cys)
c.2165C>G (p.Ser722Cys)
c.842C>G (p.Ser281Cys)
3g.38894930G>TCA352175149SCN11Ac.2438C>A (p.Ser813Tyr)
c.2258C>A (p.Ser753Tyr)
c.2482C>A (n.2482C>A)
c.2057C>A (p.Ser686Tyr)
c.1775C>A (p.Ser592Tyr)
c.986C>A (p.Ser329Tyr)
c.2813C>A (p.Ser938Tyr)
c.2240C>A (p.Ser747Tyr)
c.2165C>A (p.Ser722Tyr)
c.842C>A (p.Ser281Tyr)
3g.38894931A>CCA352175150SCN11Ac.2437T>G (p.Ser813Ala)
c.2257T>G (p.Ser753Ala)
c.2481T>G (n.2481T>G)
c.2056T>G (p.Ser686Ala)
c.1774T>G (p.Ser592Ala)
c.985T>G (p.Ser329Ala)
c.2812T>G (p.Ser938Ala)
c.2239T>G (p.Ser747Ala)
c.2164T>G (p.Ser722Ala)
c.841T>G (p.Ser281Ala)
3g.38894931A>GCA352175151SCN11Ac.2437T>C (p.Ser813Pro)
c.2257T>C (p.Ser753Pro)
c.2481T>C (n.2481T>C)
c.2056T>C (p.Ser686Pro)
c.1774T>C (p.Ser592Pro)
c.985T>C (p.Ser329Pro)
c.2812T>C (p.Ser938Pro)
c.2239T>C (p.Ser747Pro)
c.2164T>C (p.Ser722Pro)
c.841T>C (p.Ser281Pro)
3g.38894931A>TCA352175152SCN11Ac.2437T>A (p.Ser813Thr)
c.2257T>A (p.Ser753Thr)
c.2481T>A (n.2481T>A)
c.2056T>A (p.Ser686Thr)
c.1774T>A (p.Ser592Thr)
c.985T>A (p.Ser329Thr)
c.2812T>A (p.Ser938Thr)
c.2239T>A (p.Ser747Thr)
c.2164T>A (p.Ser722Thr)
c.841T>A (p.Ser281Thr)
3g.38894932A>CCA352175154SCN11Ac.2436T>G (p.Asn812Lys)
c.2256T>G (p.Asn752Lys)
c.2480T>G (n.2480T>G)
c.2055T>G (p.Asn685Lys)
c.1773T>G (p.Asn591Lys)
c.984T>G (p.Asn328Lys)
c.2811T>G (p.Asn937Lys)
c.2238T>G (p.Asn746Lys)
c.2163T>G (p.Asn721Lys)
c.840T>G (p.Asn280Lys)
3g.38894932A>GCA433336233SCN11Ac.2436T>C (p.Asn812=)
c.2256T>C (p.Asn752=)
c.2480T>C (n.2480T>C)
c.2055T>C (p.Asn685=)
c.1773T>C (p.Asn591=)
c.984T>C (p.Asn328=)
c.2811T>C (p.Asn937=)
c.2238T>C (p.Asn746=)
c.2163T>C (p.Asn721=)
c.840T>C (p.Asn280=)
3g.38894932A>TCA352175153SCN11Ac.2436T>A (p.Asn812Lys)
c.2256T>A (p.Asn752Lys)
c.2480T>A (n.2480T>A)
c.2055T>A (p.Asn685Lys)
c.1773T>A (p.Asn591Lys)
c.984T>A (p.Asn328Lys)
c.2811T>A (p.Asn937Lys)
c.2238T>A (p.Asn746Lys)
c.2163T>A (p.Asn721Lys)
c.840T>A (p.Asn280Lys)
3g.38894933T>ACA352175155SCN11Ac.2435A>T (p.Asn812Ile)
c.2255A>T (p.Asn752Ile)
c.2479A>T (n.2479A>T)
c.2054A>T (p.Asn685Ile)
c.1772A>T (p.Asn591Ile)
c.983A>T (p.Asn328Ile)
c.2810A>T (p.Asn937Ile)
c.2237A>T (p.Asn746Ile)
c.2162A>T (p.Asn721Ile)
c.839A>T (p.Asn280Ile)
3g.38894933T>CCA352175156SCN11Ac.2435A>G (p.Asn812Ser)
c.2255A>G (p.Asn752Ser)
c.2479A>G (n.2479A>G)
c.2054A>G (p.Asn685Ser)
c.1772A>G (p.Asn591Ser)
c.983A>G (p.Asn328Ser)
c.2810A>G (p.Asn937Ser)
c.2237A>G (p.Asn746Ser)
c.2162A>G (p.Asn721Ser)
c.839A>G (p.Asn280Ser)
 ClinVar dbSNP
3g.38894933T>GCA352175157SCN11Ac.2435A>C (p.Asn812Thr)
c.2255A>C (p.Asn752Thr)
c.2479A>C (n.2479A>C)
c.2054A>C (p.Asn685Thr)
c.1772A>C (p.Asn591Thr)
c.983A>C (p.Asn328Thr)
c.2810A>C (p.Asn937Thr)
c.2237A>C (p.Asn746Thr)
c.2162A>C (p.Asn721Thr)
c.839A>C (p.Asn280Thr)
3g.38894934T>ACA352175158SCN11Ac.2434A>T (p.Asn812Tyr)
c.2254A>T (p.Asn752Tyr)
c.2478A>T (n.2478A>T)
c.2053A>T (p.Asn685Tyr)
c.1771A>T (p.Asn591Tyr)
c.982A>T (p.Asn328Tyr)
c.2809A>T (p.Asn937Tyr)
c.2236A>T (p.Asn746Tyr)
c.2161A>T (p.Asn721Tyr)
c.838A>T (p.Asn280Tyr)
 ClinVar
3g.38894934T>CCA352175159SCN11Ac.2434A>G (p.Asn812Asp)
c.2254A>G (p.Asn752Asp)
c.2478A>G (n.2478A>G)
c.2053A>G (p.Asn685Asp)
c.1771A>G (p.Asn591Asp)
c.982A>G (p.Asn328Asp)
c.2809A>G (p.Asn937Asp)
c.2236A>G (p.Asn746Asp)
c.2161A>G (p.Asn721Asp)
c.838A>G (p.Asn280Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.38894934T>GCA352175160SCN11Ac.2434A>C (p.Asn812His)
c.2254A>C (p.Asn752His)
c.2478A>C (n.2478A>C)
c.2053A>C (p.Asn685His)
c.1771A>C (p.Asn591His)
c.982A>C (p.Asn328His)
c.2809A>C (p.Asn937His)
c.2236A>C (p.Asn746His)
c.2161A>C (p.Asn721His)
c.838A>C (p.Asn280His)
 gnomAD v4
3g.38894934T=CA1358718300SCN11Ac.2434A= (p.Asn812=)
c.2254A= (p.Asn752=)
c.2478A= (n.2478A=)
c.2053A= (p.Asn685=)
c.1771A= (p.Asn591=)
c.982A= (p.Asn328=)
c.2809A= (p.Asn937=)
c.2236A= (p.Asn746=)
c.2161A= (p.Asn721=)
c.838A= (p.Asn280=)
3g.38894935G>ACA433336234SCN11Ac.2433C>T (p.Leu811=)
c.2253C>T (p.Leu751=)
c.2477C>T (n.2477C>T)
c.2052C>T (p.Leu684=)
c.1770C>T (p.Leu590=)
c.981C>T (p.Leu327=)
c.2808C>T (p.Leu936=)
c.2235C>T (p.Leu745=)
c.2160C>T (p.Leu720=)
c.837C>T (p.Leu279=)
 gnomAD v4
3g.38894935G>CCA2322036SCN11Ac.2433C>G (p.Leu811=)
c.2253C>G (p.Leu751=)
c.2477C>G (n.2477C>G)
c.2052C>G (p.Leu684=)
c.1770C>G (p.Leu590=)
c.981C>G (p.Leu327=)
c.2808C>G (p.Leu936=)
c.2235C>G (p.Leu745=)
c.2160C>G (p.Leu720=)
c.837C>G (p.Leu279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894935G=CA1358718301SCN11Ac.2433C= (p.Leu811=)
c.2253C= (p.Leu751=)
c.2477C= (n.2477C=)
c.2052C= (p.Leu684=)
c.1770C= (p.Leu590=)
c.981C= (p.Leu327=)
c.2808C= (p.Leu936=)
c.2235C= (p.Leu745=)
c.2160C= (p.Leu720=)
c.837C= (p.Leu279=)
3g.38894935G>TCA433336235SCN11Ac.2433C>A (p.Leu811=)
c.2253C>A (p.Leu751=)
c.2477C>A (n.2477C>A)
c.2052C>A (p.Leu684=)
c.1770C>A (p.Leu590=)
c.981C>A (p.Leu327=)
c.2808C>A (p.Leu936=)
c.2235C>A (p.Leu745=)
c.2160C>A (p.Leu720=)
c.837C>A (p.Leu279=)
 gnomAD v4
3g.38894936A=CA1358718302SCN11Ac.2432T= (p.Leu811=)
c.2252T= (p.Leu751=)
c.2476T= (n.2476T=)
c.2051T= (p.Leu684=)
c.1769T= (p.Leu590=)
c.980T= (p.Leu327=)
c.2807T= (p.Leu936=)
c.2234T= (p.Leu745=)
c.2159T= (p.Leu720=)
c.836T= (p.Leu279=)
3g.38894936A>CCA352175161SCN11Ac.2432T>G (p.Leu811Arg)
c.2252T>G (p.Leu751Arg)
c.2476T>G (n.2476T>G)
c.2051T>G (p.Leu684Arg)
c.1769T>G (p.Leu590Arg)
c.980T>G (p.Leu327Arg)
c.2807T>G (p.Leu936Arg)
c.2234T>G (p.Leu745Arg)
c.2159T>G (p.Leu720Arg)
c.836T>G (p.Leu279Arg)
3g.38894936A>GCA145432SCN11Ac.2432T>C (p.Leu811Pro)
c.2252T>C (p.Leu751Pro)
c.2476T>C (n.2476T>C)
c.2051T>C (p.Leu684Pro)
c.1769T>C (p.Leu590Pro)
c.980T>C (p.Leu327Pro)
c.2807T>C (p.Leu936Pro)
c.2234T>C (p.Leu745Pro)
c.2159T>C (p.Leu720Pro)
c.836T>C (p.Leu279Pro)
 ClinVar dbSNP
3g.38894936A>TCA352175162SCN11Ac.2432T>A (p.Leu811His)
c.2252T>A (p.Leu751His)
c.2476T>A (n.2476T>A)
c.2051T>A (p.Leu684His)
c.1769T>A (p.Leu590His)
c.980T>A (p.Leu327His)
c.2807T>A (p.Leu936His)
c.2234T>A (p.Leu745His)
c.2159T>A (p.Leu720His)
c.836T>A (p.Leu279His)
3g.38894937G>ACA352175163SCN11Ac.2431C>T (p.Leu811Phe)
c.2251C>T (p.Leu751Phe)
c.2475C>T (n.2475C>T)
c.2050C>T (p.Leu684Phe)
c.1768C>T (p.Leu590Phe)
c.979C>T (p.Leu327Phe)
c.2806C>T (p.Leu936Phe)
c.2233C>T (p.Leu745Phe)
c.2158C>T (p.Leu720Phe)
c.835C>T (p.Leu279Phe)
3g.38894937G>CCA352175164SCN11Ac.2431C>G (p.Leu811Val)
c.2251C>G (p.Leu751Val)
c.2475C>G (n.2475C>G)
c.2050C>G (p.Leu684Val)
c.1768C>G (p.Leu590Val)
c.979C>G (p.Leu327Val)
c.2806C>G (p.Leu936Val)
c.2233C>G (p.Leu745Val)
c.2158C>G (p.Leu720Val)
c.835C>G (p.Leu279Val)
3g.38894937G>TCA352175165SCN11Ac.2431C>A (p.Leu811Ile)
c.2251C>A (p.Leu751Ile)
c.2475C>A (n.2475C>A)
c.2050C>A (p.Leu684Ile)
c.1768C>A (p.Leu590Ile)
c.979C>A (p.Leu327Ile)
c.2806C>A (p.Leu936Ile)
c.2233C>A (p.Leu745Ile)
c.2158C>A (p.Leu720Ile)
c.835C>A (p.Leu279Ile)
3g.38894938C>ACA433336238SCN11Ac.2430G>T (p.Leu810=)
c.2250G>T (p.Leu750=)
c.2474G>T (n.2474G>T)
c.2049G>T (p.Leu683=)
c.1767G>T (p.Leu589=)
c.978G>T (p.Leu326=)
c.2805G>T (p.Leu935=)
c.2232G>T (p.Leu744=)
c.2157G>T (p.Leu719=)
c.834G>T (p.Leu278=)
3g.38894938C>GCA433336236SCN11Ac.2430G>C (p.Leu810=)
c.2250G>C (p.Leu750=)
c.2474G>C (n.2474G>C)
c.2049G>C (p.Leu683=)
c.1767G>C (p.Leu589=)
c.978G>C (p.Leu326=)
c.2805G>C (p.Leu935=)
c.2232G>C (p.Leu744=)
c.2157G>C (p.Leu719=)
c.834G>C (p.Leu278=)
3g.38894938C>TCA433336237SCN11Ac.2430G>A (p.Leu810=)
c.2250G>A (p.Leu750=)
c.2474G>A (n.2474G>A)
c.2049G>A (p.Leu683=)
c.1767G>A (p.Leu589=)
c.978G>A (p.Leu326=)
c.2805G>A (p.Leu935=)
c.2232G>A (p.Leu744=)
c.2157G>A (p.Leu719=)
c.834G>A (p.Leu278=)
3g.38894939A>CCA352175166SCN11Ac.2429T>G (p.Leu810Arg)
c.2249T>G (p.Leu750Arg)
c.2473T>G (n.2473T>G)
c.2048T>G (p.Leu683Arg)
c.1766T>G (p.Leu589Arg)
c.977T>G (p.Leu326Arg)
c.2804T>G (p.Leu935Arg)
c.2231T>G (p.Leu744Arg)
c.2156T>G (p.Leu719Arg)
c.833T>G (p.Leu278Arg)
3g.38894939A>GCA352175168SCN11Ac.2429T>C (p.Leu810Pro)
c.2249T>C (p.Leu750Pro)
c.2473T>C (n.2473T>C)
c.2048T>C (p.Leu683Pro)
c.1766T>C (p.Leu589Pro)
c.977T>C (p.Leu326Pro)
c.2804T>C (p.Leu935Pro)
c.2231T>C (p.Leu744Pro)
c.2156T>C (p.Leu719Pro)
c.833T>C (p.Leu278Pro)
3g.38894939A>TCA352175167SCN11Ac.2429T>A (p.Leu810Gln)
c.2249T>A (p.Leu750Gln)
c.2473T>A (n.2473T>A)
c.2048T>A (p.Leu683Gln)
c.1766T>A (p.Leu589Gln)
c.977T>A (p.Leu326Gln)
c.2804T>A (p.Leu935Gln)
c.2231T>A (p.Leu744Gln)
c.2156T>A (p.Leu719Gln)
c.833T>A (p.Leu278Gln)
 gnomAD v4
3g.38894940G>ACA433336239SCN11Ac.2428C>T (p.Leu810=)
c.2248C>T (p.Leu750=)
c.2472C>T (n.2472C>T)
c.2047C>T (p.Leu683=)
c.1765C>T (p.Leu589=)
c.976C>T (p.Leu326=)
c.2803C>T (p.Leu935=)
c.2230C>T (p.Leu744=)
c.2155C>T (p.Leu719=)
c.832C>T (p.Leu278=)
3g.38894940G>CCA352175169SCN11Ac.2428C>G (p.Leu810Val)
c.2248C>G (p.Leu750Val)
c.2472C>G (n.2472C>G)
c.2047C>G (p.Leu683Val)
c.1765C>G (p.Leu589Val)
c.976C>G (p.Leu326Val)
c.2803C>G (p.Leu935Val)
c.2230C>G (p.Leu744Val)
c.2155C>G (p.Leu719Val)
c.832C>G (p.Leu278Val)
3g.38894940G>TCA352175170SCN11Ac.2428C>A (p.Leu810Met)
c.2248C>A (p.Leu750Met)
c.2472C>A (n.2472C>A)
c.2047C>A (p.Leu683Met)
c.1765C>A (p.Leu589Met)
c.976C>A (p.Leu326Met)
c.2803C>A (p.Leu935Met)
c.2230C>A (p.Leu744Met)
c.2155C>A (p.Leu719Met)
c.832C>A (p.Leu278Met)
3g.38894941T>ACA352175171SCN11Ac.2427A>T (p.Leu809Phe)
c.2247A>T (p.Leu749Phe)
c.2471A>T (n.2471A>T)
c.2046A>T (p.Leu682Phe)
c.1764A>T (p.Leu588Phe)
c.975A>T (p.Leu325Phe)
c.2802A>T (p.Leu934Phe)
c.2229A>T (p.Leu743Phe)
c.2154A>T (p.Leu718Phe)
c.831A>T (p.Leu277Phe)
3g.38894941T>CCA433336240SCN11Ac.2427A>G (p.Leu809=)
c.2247A>G (p.Leu749=)
c.2471A>G (n.2471A>G)
c.2046A>G (p.Leu682=)
c.1764A>G (p.Leu588=)
c.975A>G (p.Leu325=)
c.2802A>G (p.Leu934=)
c.2229A>G (p.Leu743=)
c.2154A>G (p.Leu718=)
c.831A>G (p.Leu277=)
3g.38894941T>GCA352175172SCN11Ac.2427A>C (p.Leu809Phe)
c.2247A>C (p.Leu749Phe)
c.2471A>C (n.2471A>C)
c.2046A>C (p.Leu682Phe)
c.1764A>C (p.Leu588Phe)
c.975A>C (p.Leu325Phe)
c.2802A>C (p.Leu934Phe)
c.2229A>C (p.Leu743Phe)
c.2154A>C (p.Leu718Phe)
c.831A>C (p.Leu277Phe)
3g.38894942A>CCA352175173SCN11Ac.2426T>G (p.Leu809Ter)
c.2246T>G (p.Leu749Ter)
c.2470T>G (n.2470T>G)
c.2045T>G (p.Leu682Ter)
c.1763T>G (p.Leu588Ter)
c.974T>G (p.Leu325Ter)
c.2801T>G (p.Leu934Ter)
c.2228T>G (p.Leu743Ter)
c.2153T>G (p.Leu718Ter)
c.830T>G (p.Leu277Ter)
3g.38894942A>GCA352175174SCN11Ac.2426T>C (p.Leu809Ser)
c.2246T>C (p.Leu749Ser)
c.2470T>C (n.2470T>C)
c.2045T>C (p.Leu682Ser)
c.1763T>C (p.Leu588Ser)
c.974T>C (p.Leu325Ser)
c.2801T>C (p.Leu934Ser)
c.2228T>C (p.Leu743Ser)
c.2153T>C (p.Leu718Ser)
c.830T>C (p.Leu277Ser)
3g.38894942A>TCA352175175SCN11Ac.2426T>A (p.Leu809Ter)
c.2246T>A (p.Leu749Ter)
c.2470T>A (n.2470T>A)
c.2045T>A (p.Leu682Ter)
c.1763T>A (p.Leu588Ter)
c.974T>A (p.Leu325Ter)
c.2801T>A (p.Leu934Ter)
c.2228T>A (p.Leu743Ter)
c.2153T>A (p.Leu718Ter)
c.830T>A (p.Leu277Ter)
3g.38894943A=CA1358718303SCN11Ac.2425T= (p.Leu809=)
c.2245T= (p.Leu749=)
c.2469T= (n.2469T=)
c.2044T= (p.Leu682=)
c.1762T= (p.Leu588=)
c.973T= (p.Leu325=)
c.2800T= (p.Leu934=)
c.2227T= (p.Leu743=)
c.2152T= (p.Leu718=)
c.829T= (p.Leu277=)
3g.38894943A>CCA72997896SCN11Ac.2425T>G (p.Leu809Val)
c.2245T>G (p.Leu749Val)
c.2469T>G (n.2469T>G)
c.2044T>G (p.Leu682Val)
c.1762T>G (p.Leu588Val)
c.973T>G (p.Leu325Val)
c.2800T>G (p.Leu934Val)
c.2227T>G (p.Leu743Val)
c.2152T>G (p.Leu718Val)
c.829T>G (p.Leu277Val)
 dbSNP
3g.38894943A>GCA433336241SCN11Ac.2425T>C (p.Leu809=)
c.2245T>C (p.Leu749=)
c.2469T>C (n.2469T>C)
c.2044T>C (p.Leu682=)
c.1762T>C (p.Leu588=)
c.973T>C (p.Leu325=)
c.2800T>C (p.Leu934=)
c.2227T>C (p.Leu743=)
c.2152T>C (p.Leu718=)
c.829T>C (p.Leu277=)
3g.38894943A>TCA352175176SCN11Ac.2425T>A (p.Leu809Ile)
c.2245T>A (p.Leu749Ile)
c.2469T>A (n.2469T>A)
c.2044T>A (p.Leu682Ile)
c.1762T>A (p.Leu588Ile)
c.973T>A (p.Leu325Ile)
c.2800T>A (p.Leu934Ile)
c.2227T>A (p.Leu743Ile)
c.2152T>A (p.Leu718Ile)
c.829T>A (p.Leu277Ile)
3g.38894944G>ACA433336244SCN11Ac.2424C>T (p.Ala808=)
c.2244C>T (p.Ala748=)
c.2468C>T (n.2468C>T)
c.2043C>T (p.Ala681=)
c.1761C>T (p.Ala587=)
c.972C>T (p.Ala324=)
c.2799C>T (p.Ala933=)
c.2226C>T (p.Ala742=)
c.2151C>T (p.Ala717=)
c.828C>T (p.Ala276=)
3g.38894944G>CCA433336242SCN11Ac.2424C>G (p.Ala808=)
c.2244C>G (p.Ala748=)
c.2468C>G (n.2468C>G)
c.2043C>G (p.Ala681=)
c.1761C>G (p.Ala587=)
c.972C>G (p.Ala324=)
c.2799C>G (p.Ala933=)
c.2226C>G (p.Ala742=)
c.2151C>G (p.Ala717=)
c.828C>G (p.Ala276=)
3g.38894944G>TCA433336243SCN11Ac.2424C>A (p.Ala808=)
c.2244C>A (p.Ala748=)
c.2468C>A (n.2468C>A)
c.2043C>A (p.Ala681=)
c.1761C>A (p.Ala587=)
c.972C>A (p.Ala324=)
c.2799C>A (p.Ala933=)
c.2226C>A (p.Ala742=)
c.2151C>A (p.Ala717=)
c.828C>A (p.Ala276=)
3g.38894945G>ACA352175177SCN11Ac.2423C>T (p.Ala808Val)
c.2243C>T (p.Ala748Val)
c.2467C>T (n.2467C>T)
c.2042C>T (p.Ala681Val)
c.1760C>T (p.Ala587Val)
c.971C>T (p.Ala324Val)
c.2798C>T (p.Ala933Val)
c.2225C>T (p.Ala742Val)
c.2150C>T (p.Ala717Val)
c.827C>T (p.Ala276Val)
 gnomAD v4
3g.38894945G>CCA145435SCN11Ac.2423C>G (p.Ala808Gly)
c.2243C>G (p.Ala748Gly)
c.2467C>G (n.2467C>G)
c.2042C>G (p.Ala681Gly)
c.1760C>G (p.Ala587Gly)
c.971C>G (p.Ala324Gly)
c.2798C>G (p.Ala933Gly)
c.2225C>G (p.Ala742Gly)
c.2150C>G (p.Ala717Gly)
c.827C>G (p.Ala276Gly)
 ClinVar dbSNP
3g.38894945G=CA1358718304SCN11Ac.2423C= (p.Ala808=)
c.2243C= (p.Ala748=)
c.2467C= (n.2467C=)
c.2042C= (p.Ala681=)
c.1760C= (p.Ala587=)
c.971C= (p.Ala324=)
c.2798C= (p.Ala933=)
c.2225C= (p.Ala742=)
c.2150C= (p.Ala717=)
c.827C= (p.Ala276=)
3g.38894945G>TCA352175178SCN11Ac.2423C>A (p.Ala808Asp)
c.2243C>A (p.Ala748Asp)
c.2467C>A (n.2467C>A)
c.2042C>A (p.Ala681Asp)
c.1760C>A (p.Ala587Asp)
c.971C>A (p.Ala324Asp)
c.2798C>A (p.Ala933Asp)
c.2225C>A (p.Ala742Asp)
c.2150C>A (p.Ala717Asp)
c.827C>A (p.Ala276Asp)
 ClinVar dbSNP
3g.38894946C>ACA352175181SCN11Ac.2422G>T (p.Ala808Ser)
c.2242G>T (p.Ala748Ser)
c.2466G>T (n.2466G>T)
c.2041G>T (p.Ala681Ser)
c.1759G>T (p.Ala587Ser)
c.970G>T (p.Ala324Ser)
c.2797G>T (p.Ala933Ser)
c.2224G>T (p.Ala742Ser)
c.2149G>T (p.Ala717Ser)
c.826G>T (p.Ala276Ser)
 gnomAD v4
3g.38894946C>GCA352175179SCN11Ac.2422G>C (p.Ala808Pro)
c.2242G>C (p.Ala748Pro)
c.2466G>C (n.2466G>C)
c.2041G>C (p.Ala681Pro)
c.1759G>C (p.Ala587Pro)
c.970G>C (p.Ala324Pro)
c.2797G>C (p.Ala933Pro)
c.2224G>C (p.Ala742Pro)
c.2149G>C (p.Ala717Pro)
c.826G>C (p.Ala276Pro)
3g.38894946C>TCA352175180SCN11Ac.2422G>A (p.Ala808Thr)
c.2242G>A (p.Ala748Thr)
c.2466G>A (n.2466G>A)
c.2041G>A (p.Ala681Thr)
c.1759G>A (p.Ala587Thr)
c.970G>A (p.Ala324Thr)
c.2797G>A (p.Ala933Thr)
c.2224G>A (p.Ala742Thr)
c.2149G>A (p.Ala717Thr)
c.826G>A (p.Ala276Thr)
3g.38894947A>CCA352175182SCN11Ac.2421T>G (p.Ile807Met)
c.2241T>G (p.Ile747Met)
c.2465T>G (n.2465T>G)
c.2040T>G (p.Ile680Met)
c.1758T>G (p.Ile586Met)
c.969T>G (p.Ile323Met)
c.2796T>G (p.Ile932Met)
c.2223T>G (p.Ile741Met)
c.2148T>G (p.Ile716Met)
c.825T>G (p.Ile275Met)
3g.38894947A>GCA433336245SCN11Ac.2421T>C (p.Ile807=)
c.2241T>C (p.Ile747=)
c.2465T>C (n.2465T>C)
c.2040T>C (p.Ile680=)
c.1758T>C (p.Ile586=)
c.969T>C (p.Ile323=)
c.2796T>C (p.Ile932=)
c.2223T>C (p.Ile741=)
c.2148T>C (p.Ile716=)
c.825T>C (p.Ile275=)
3g.38894947A>TCA433336246SCN11Ac.2421T>A (p.Ile807=)
c.2241T>A (p.Ile747=)
c.2465T>A (n.2465T>A)
c.2040T>A (p.Ile680=)
c.1758T>A (p.Ile586=)
c.969T>A (p.Ile323=)
c.2796T>A (p.Ile932=)
c.2223T>A (p.Ile741=)
c.2148T>A (p.Ile716=)
c.825T>A (p.Ile275=)
 gnomAD v4
3g.38894948A>CCA352175183SCN11Ac.2420T>G (p.Ile807Ser)
c.2240T>G (p.Ile747Ser)
c.2464T>G (n.2464T>G)
c.2039T>G (p.Ile680Ser)
c.1757T>G (p.Ile586Ser)
c.968T>G (p.Ile323Ser)
c.2795T>G (p.Ile932Ser)
c.2222T>G (p.Ile741Ser)
c.2147T>G (p.Ile716Ser)
c.824T>G (p.Ile275Ser)
3g.38894948A>GCA352175184SCN11Ac.2420T>C (p.Ile807Thr)
c.2240T>C (p.Ile747Thr)
c.2464T>C (n.2464T>C)
c.2039T>C (p.Ile680Thr)
c.1757T>C (p.Ile586Thr)
c.968T>C (p.Ile323Thr)
c.2795T>C (p.Ile932Thr)
c.2222T>C (p.Ile741Thr)
c.2147T>C (p.Ile716Thr)
c.824T>C (p.Ile275Thr)
3g.38894948A>TCA352175185SCN11Ac.2420T>A (p.Ile807Asn)
c.2240T>A (p.Ile747Asn)
c.2464T>A (n.2464T>A)
c.2039T>A (p.Ile680Asn)
c.1757T>A (p.Ile586Asn)
c.968T>A (p.Ile323Asn)
c.2795T>A (p.Ile932Asn)
c.2222T>A (p.Ile741Asn)
c.2147T>A (p.Ile716Asn)
c.824T>A (p.Ile275Asn)
3g.38894949T>ACA352175186SCN11Ac.2419A>T (p.Ile807Phe)
c.2239A>T (p.Ile747Phe)
c.2463A>T (n.2463A>T)
c.2038A>T (p.Ile680Phe)
c.1756A>T (p.Ile586Phe)
c.967A>T (p.Ile323Phe)
c.2794A>T (p.Ile932Phe)
c.2221A>T (p.Ile741Phe)
c.2146A>T (p.Ile716Phe)
c.823A>T (p.Ile275Phe)
3g.38894949T>CCA72997931SCN11Ac.2419A>G (p.Ile807Val)
c.2239A>G (p.Ile747Val)
c.2463A>G (n.2463A>G)
c.2038A>G (p.Ile680Val)
c.1756A>G (p.Ile586Val)
c.967A>G (p.Ile323Val)
c.2794A>G (p.Ile932Val)
c.2221A>G (p.Ile741Val)
c.2146A>G (p.Ile716Val)
c.823A>G (p.Ile275Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894949T>GCA352175187SCN11Ac.2419A>C (p.Ile807Leu)
c.2239A>C (p.Ile747Leu)
c.2463A>C (n.2463A>C)
c.2038A>C (p.Ile680Leu)
c.1756A>C (p.Ile586Leu)
c.967A>C (p.Ile323Leu)
c.2794A>C (p.Ile932Leu)
c.2221A>C (p.Ile741Leu)
c.2146A>C (p.Ile716Leu)
c.823A>C (p.Ile275Leu)
3g.38894949T=CA1358718306SCN11Ac.2419A= (p.Ile807=)
c.2239A= (p.Ile747=)
c.2463A= (n.2463A=)
c.2038A= (p.Ile680=)
c.1756A= (p.Ile586=)
c.967A= (p.Ile323=)
c.2794A= (p.Ile932=)
c.2221A= (p.Ile741=)
c.2146A= (p.Ile716=)
c.823A= (p.Ile275=)
3g.38894949_38894952delinsTGAACA1358718305SCN11Ac.2416_2419delinsTTCA (p.Phe806=)
c.2236_2239delinsTTCA (p.Phe746=)
c.2460_2463delinsTTCA (n.2460_2463delinsTTCA)
c.2035_2038delinsTTCA (p.Phe679=)
c.1753_1756delinsTTCA (p.Phe585=)
c.964_967delinsTTCA (p.Phe322=)
c.2791_2794delinsTTCA (p.Phe931=)
c.2218_2221delinsTTCA (p.Phe740=)
c.2143_2146delinsTTCA (p.Phe715=)
c.820_823delinsTTCA (p.Phe274=)
3g.38894950G>ACA433336247SCN11Ac.2418C>T (p.Phe806=)
c.2238C>T (p.Phe746=)
c.2462C>T (n.2462C>T)
c.2037C>T (p.Phe679=)
c.1755C>T (p.Phe585=)
c.966C>T (p.Phe322=)
c.2793C>T (p.Phe931=)
c.2220C>T (p.Phe740=)
c.2145C>T (p.Phe715=)
c.822C>T (p.Phe274=)
3g.38894950G>CCA352175188SCN11Ac.2418C>G (p.Phe806Leu)
c.2238C>G (p.Phe746Leu)
c.2462C>G (n.2462C>G)
c.2037C>G (p.Phe679Leu)
c.1755C>G (p.Phe585Leu)
c.966C>G (p.Phe322Leu)
c.2793C>G (p.Phe931Leu)
c.2220C>G (p.Phe740Leu)
c.2145C>G (p.Phe715Leu)
c.822C>G (p.Phe274Leu)
3g.38894950G>TCA352175189SCN11Ac.2418C>A (p.Phe806Leu)
c.2238C>A (p.Phe746Leu)
c.2462C>A (n.2462C>A)
c.2037C>A (p.Phe679Leu)
c.1755C>A (p.Phe585Leu)
c.966C>A (p.Phe322Leu)
c.2793C>A (p.Phe931Leu)
c.2220C>A (p.Phe740Leu)
c.2145C>A (p.Phe715Leu)
c.822C>A (p.Phe274Leu)
3g.38894952_38894954delCA2322037SCN11Ac.2416_2418del (p.Phe806del)
c.2236_2238del (p.Phe746del)
c.2460_2462del (n.2460_2462del)
c.2035_2037del (p.Phe679del)
c.1753_1755del (p.Phe585del)
c.964_966del (p.Phe322del)
c.2791_2793del (p.Phe931del)
c.2218_2220del (p.Phe740del)
c.2143_2145del (p.Phe715del)
c.820_822del (p.Phe274del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894951A>CCA352175192SCN11Ac.2417T>G (p.Phe806Cys)
c.2237T>G (p.Phe746Cys)
c.2461T>G (n.2461T>G)
c.2036T>G (p.Phe679Cys)
c.1754T>G (p.Phe585Cys)
c.965T>G (p.Phe322Cys)
c.2792T>G (p.Phe931Cys)
c.2219T>G (p.Phe740Cys)
c.2144T>G (p.Phe715Cys)
c.821T>G (p.Phe274Cys)
3g.38894951A>GCA352175191SCN11Ac.2417T>C (p.Phe806Ser)
c.2237T>C (p.Phe746Ser)
c.2461T>C (n.2461T>C)
c.2036T>C (p.Phe679Ser)
c.1754T>C (p.Phe585Ser)
c.965T>C (p.Phe322Ser)
c.2792T>C (p.Phe931Ser)
c.2219T>C (p.Phe740Ser)
c.2144T>C (p.Phe715Ser)
c.821T>C (p.Phe274Ser)
3g.38894951A>TCA352175190SCN11Ac.2417T>A (p.Phe806Tyr)
c.2237T>A (p.Phe746Tyr)
c.2461T>A (n.2461T>A)
c.2036T>A (p.Phe679Tyr)
c.1754T>A (p.Phe585Tyr)
c.965T>A (p.Phe322Tyr)
c.2792T>A (p.Phe931Tyr)
c.2219T>A (p.Phe740Tyr)
c.2144T>A (p.Phe715Tyr)
c.821T>A (p.Phe274Tyr)
3g.38894952A>CCA352175193SCN11Ac.2416T>G (p.Phe806Val)
c.2236T>G (p.Phe746Val)
c.2460T>G (n.2460T>G)
c.2035T>G (p.Phe679Val)
c.1753T>G (p.Phe585Val)
c.964T>G (p.Phe322Val)
c.2791T>G (p.Phe931Val)
c.2218T>G (p.Phe740Val)
c.2143T>G (p.Phe715Val)
c.820T>G (p.Phe274Val)
3g.38894952A>GCA352175194SCN11Ac.2416T>C (p.Phe806Leu)
c.2236T>C (p.Phe746Leu)
c.2460T>C (n.2460T>C)
c.2035T>C (p.Phe679Leu)
c.1753T>C (p.Phe585Leu)
c.964T>C (p.Phe322Leu)
c.2791T>C (p.Phe931Leu)
c.2218T>C (p.Phe740Leu)
c.2143T>C (p.Phe715Leu)
c.820T>C (p.Phe274Leu)
3g.38894952A>TCA352175195SCN11Ac.2416T>A (p.Phe806Ile)
c.2236T>A (p.Phe746Ile)
c.2460T>A (n.2460T>A)
c.2035T>A (p.Phe679Ile)
c.1753T>A (p.Phe585Ile)
c.964T>A (p.Phe322Ile)
c.2791T>A (p.Phe931Ile)
c.2218T>A (p.Phe740Ile)
c.2143T>A (p.Phe715Ile)
c.820T>A (p.Phe274Ile)

Number of alleles fetched