Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38894753C>ACA2322008SCN11Ac.2615G>T (p.Gly872Val)
c.2435G>T (p.Gly812Val)
c.2659G>T (n.2659G>T)
c.2234G>T (p.Gly745Val)
c.1952G>T (p.Gly651Val)
c.1163G>T (p.Gly388Val)
c.2990G>T (p.Gly997Val)
c.2417G>T (p.Gly806Val)
c.2342G>T (p.Gly781Val)
c.1019G>T (p.Gly340Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894753C=CA1358718204SCN11Ac.2615G= (p.Gly872=)
c.2435G= (p.Gly812=)
c.2659G= (n.2659G=)
c.2234G= (p.Gly745=)
c.1952G= (p.Gly651=)
c.1163G= (p.Gly388=)
c.2990G= (p.Gly997=)
c.2417G= (p.Gly806=)
c.2342G= (p.Gly781=)
c.1019G= (p.Gly340=)
3g.38894753C>GCA352174751SCN11Ac.2615G>C (p.Gly872Ala)
c.2435G>C (p.Gly812Ala)
c.2659G>C (n.2659G>C)
c.2234G>C (p.Gly745Ala)
c.1952G>C (p.Gly651Ala)
c.1163G>C (p.Gly388Ala)
c.2990G>C (p.Gly997Ala)
c.2417G>C (p.Gly806Ala)
c.2342G>C (p.Gly781Ala)
c.1019G>C (p.Gly340Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.38894753C>TCA352174750SCN11Ac.2615G>A (p.Gly872Asp)
c.2435G>A (p.Gly812Asp)
c.2659G>A (n.2659G>A)
c.2234G>A (p.Gly745Asp)
c.1952G>A (p.Gly651Asp)
c.1163G>A (p.Gly388Asp)
c.2990G>A (p.Gly997Asp)
c.2417G>A (p.Gly806Asp)
c.2342G>A (p.Gly781Asp)
c.1019G>A (p.Gly340Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.38894754C>ACA352174752SCN11Ac.2614G>T (p.Gly872Cys)
c.2434G>T (p.Gly812Cys)
c.2658G>T (n.2658G>T)
c.2233G>T (p.Gly745Cys)
c.1951G>T (p.Gly651Cys)
c.1162G>T (p.Gly388Cys)
c.2989G>T (p.Gly997Cys)
c.2416G>T (p.Gly806Cys)
c.2341G>T (p.Gly781Cys)
c.1018G>T (p.Gly340Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894754C=CA1358718205SCN11Ac.2614G= (p.Gly872=)
c.2434G= (p.Gly812=)
c.2658G= (n.2658G=)
c.2233G= (p.Gly745=)
c.1951G= (p.Gly651=)
c.1162G= (p.Gly388=)
c.2989G= (p.Gly997=)
c.2416G= (p.Gly806=)
c.2341G= (p.Gly781=)
c.1018G= (p.Gly340=)
3g.38894754C>GCA352174753SCN11Ac.2614G>C (p.Gly872Arg)
c.2434G>C (p.Gly812Arg)
c.2658G>C (n.2658G>C)
c.2233G>C (p.Gly745Arg)
c.1951G>C (p.Gly651Arg)
c.1162G>C (p.Gly388Arg)
c.2989G>C (p.Gly997Arg)
c.2416G>C (p.Gly806Arg)
c.2341G>C (p.Gly781Arg)
c.1018G>C (p.Gly340Arg)
3g.38894754C>TCA352174754SCN11Ac.2614G>A (p.Gly872Ser)
c.2434G>A (p.Gly812Ser)
c.2658G>A (n.2658G>A)
c.2233G>A (p.Gly745Ser)
c.1951G>A (p.Gly651Ser)
c.1162G>A (p.Gly388Ser)
c.2989G>A (p.Gly997Ser)
c.2416G>A (p.Gly806Ser)
c.2341G>A (p.Gly781Ser)
c.1018G>A (p.Gly340Ser)
3g.38894755T>ACA433336103SCN11Ac.2613A>T (p.Gly871=)
c.2433A>T (p.Gly811=)
c.2657A>T (n.2657A>T)
c.2232A>T (p.Gly744=)
c.1950A>T (p.Gly650=)
c.1161A>T (p.Gly387=)
c.2988A>T (p.Gly996=)
c.2415A>T (p.Gly805=)
c.2340A>T (p.Gly780=)
c.1017A>T (p.Gly339=)
3g.38894755T>CCA433336104SCN11Ac.2613A>G (p.Gly871=)
c.2433A>G (p.Gly811=)
c.2657A>G (n.2657A>G)
c.2232A>G (p.Gly744=)
c.1950A>G (p.Gly650=)
c.1161A>G (p.Gly387=)
c.2988A>G (p.Gly996=)
c.2415A>G (p.Gly805=)
c.2340A>G (p.Gly780=)
c.1017A>G (p.Gly339=)
3g.38894755T>GCA433336105SCN11Ac.2613A>C (p.Gly871=)
c.2433A>C (p.Gly811=)
c.2657A>C (n.2657A>C)
c.2232A>C (p.Gly744=)
c.1950A>C (p.Gly650=)
c.1161A>C (p.Gly387=)
c.2988A>C (p.Gly996=)
c.2415A>C (p.Gly805=)
c.2340A>C (p.Gly780=)
c.1017A>C (p.Gly339=)
3g.38894756C>ACA352174755SCN11Ac.2612G>T (p.Gly871Val)
c.2432G>T (p.Gly811Val)
c.2656G>T (n.2656G>T)
c.2231G>T (p.Gly744Val)
c.1949G>T (p.Gly650Val)
c.1160G>T (p.Gly387Val)
c.2987G>T (p.Gly996Val)
c.2414G>T (p.Gly805Val)
c.2339G>T (p.Gly780Val)
c.1016G>T (p.Gly339Val)
3g.38894756C=CA1358718206SCN11Ac.2612G= (p.Gly871=)
c.2432G= (p.Gly811=)
c.2656G= (n.2656G=)
c.2231G= (p.Gly744=)
c.1949G= (p.Gly650=)
c.1160G= (p.Gly387=)
c.2987G= (p.Gly996=)
c.2414G= (p.Gly805=)
c.2339G= (p.Gly780=)
c.1016G= (p.Gly339=)
3g.38894756C>GCA352174756SCN11Ac.2612G>C (p.Gly871Ala)
c.2432G>C (p.Gly811Ala)
c.2656G>C (n.2656G>C)
c.2231G>C (p.Gly744Ala)
c.1949G>C (p.Gly650Ala)
c.1160G>C (p.Gly387Ala)
c.2987G>C (p.Gly996Ala)
c.2414G>C (p.Gly805Ala)
c.2339G>C (p.Gly780Ala)
c.1016G>C (p.Gly339Ala)
3g.38894756C>TCA352174757SCN11Ac.2612G>A (p.Gly871Glu)
c.2432G>A (p.Gly811Glu)
c.2656G>A (n.2656G>A)
c.2231G>A (p.Gly744Glu)
c.1949G>A (p.Gly650Glu)
c.1160G>A (p.Gly387Glu)
c.2987G>A (p.Gly996Glu)
c.2414G>A (p.Gly805Glu)
c.2339G>A (p.Gly780Glu)
c.1016G>A (p.Gly339Glu)
 dbSNP gnomAD v4
3g.38894757C>ACA352174758SCN11Ac.2611G>T (p.Gly871Ter)
c.2431G>T (p.Gly811Ter)
c.2655G>T (n.2655G>T)
c.2230G>T (p.Gly744Ter)
c.1948G>T (p.Gly650Ter)
c.1159G>T (p.Gly387Ter)
c.2986G>T (p.Gly996Ter)
c.2413G>T (p.Gly805Ter)
c.2338G>T (p.Gly780Ter)
c.1015G>T (p.Gly339Ter)
 dbSNP
3g.38894757C=CA1358718207SCN11Ac.2611G= (p.Gly871=)
c.2431G= (p.Gly811=)
c.2655G= (n.2655G=)
c.2230G= (p.Gly744=)
c.1948G= (p.Gly650=)
c.1159G= (p.Gly387=)
c.2986G= (p.Gly996=)
c.2413G= (p.Gly805=)
c.2338G= (p.Gly780=)
c.1015G= (p.Gly339=)
3g.38894757C>GCA352174759SCN11Ac.2611G>C (p.Gly871Arg)
c.2431G>C (p.Gly811Arg)
c.2655G>C (n.2655G>C)
c.2230G>C (p.Gly744Arg)
c.1948G>C (p.Gly650Arg)
c.1159G>C (p.Gly387Arg)
c.2986G>C (p.Gly996Arg)
c.2413G>C (p.Gly805Arg)
c.2338G>C (p.Gly780Arg)
c.1015G>C (p.Gly339Arg)
3g.38894757C>TCA352174760SCN11Ac.2611G>A (p.Gly871Arg)
c.2431G>A (p.Gly811Arg)
c.2655G>A (n.2655G>A)
c.2230G>A (p.Gly744Arg)
c.1948G>A (p.Gly650Arg)
c.1159G>A (p.Gly387Arg)
c.2986G>A (p.Gly996Arg)
c.2413G>A (p.Gly805Arg)
c.2338G>A (p.Gly780Arg)
c.1015G>A (p.Gly339Arg)
 dbSNP gnomAD v4
3g.38894758T>ACA433336106SCN11Ac.2610A>T (p.Ala870=)
c.2430A>T (p.Ala810=)
c.2654A>T (n.2654A>T)
c.2229A>T (p.Ala743=)
c.1947A>T (p.Ala649=)
c.1158A>T (p.Ala386=)
c.2985A>T (p.Ala995=)
c.2412A>T (p.Ala804=)
c.2337A>T (p.Ala779=)
c.1014A>T (p.Ala338=)
3g.38894758T>CCA433336107SCN11Ac.2610A>G (p.Ala870=)
c.2430A>G (p.Ala810=)
c.2654A>G (n.2654A>G)
c.2229A>G (p.Ala743=)
c.1947A>G (p.Ala649=)
c.1158A>G (p.Ala386=)
c.2985A>G (p.Ala995=)
c.2412A>G (p.Ala804=)
c.2337A>G (p.Ala779=)
c.1014A>G (p.Ala338=)
 gnomAD v4
3g.38894758T>GCA433336108SCN11Ac.2610A>C (p.Ala870=)
c.2430A>C (p.Ala810=)
c.2654A>C (n.2654A>C)
c.2229A>C (p.Ala743=)
c.1947A>C (p.Ala649=)
c.1158A>C (p.Ala386=)
c.2985A>C (p.Ala995=)
c.2412A>C (p.Ala804=)
c.2337A>C (p.Ala779=)
c.1014A>C (p.Ala338=)
3g.38894759G>ACA352174761SCN11Ac.2609C>T (p.Ala870Val)
c.2429C>T (p.Ala810Val)
c.2653C>T (n.2653C>T)
c.2228C>T (p.Ala743Val)
c.1946C>T (p.Ala649Val)
c.1157C>T (p.Ala386Val)
c.2984C>T (p.Ala995Val)
c.2411C>T (p.Ala804Val)
c.2336C>T (p.Ala779Val)
c.1013C>T (p.Ala338Val)
 dbSNP
3g.38894759G>CCA352174762SCN11Ac.2609C>G (p.Ala870Gly)
c.2429C>G (p.Ala810Gly)
c.2653C>G (n.2653C>G)
c.2228C>G (p.Ala743Gly)
c.1946C>G (p.Ala649Gly)
c.1157C>G (p.Ala386Gly)
c.2984C>G (p.Ala995Gly)
c.2411C>G (p.Ala804Gly)
c.2336C>G (p.Ala779Gly)
c.1013C>G (p.Ala338Gly)
3g.38894759G=CA1358718208SCN11Ac.2609C= (p.Ala870=)
c.2429C= (p.Ala810=)
c.2653C= (n.2653C=)
c.2228C= (p.Ala743=)
c.1946C= (p.Ala649=)
c.1157C= (p.Ala386=)
c.2984C= (p.Ala995=)
c.2411C= (p.Ala804=)
c.2336C= (p.Ala779=)
c.1013C= (p.Ala338=)
3g.38894759G>TCA352174763SCN11Ac.2609C>A (p.Ala870Glu)
c.2429C>A (p.Ala810Glu)
c.2653C>A (n.2653C>A)
c.2228C>A (p.Ala743Glu)
c.1946C>A (p.Ala649Glu)
c.1157C>A (p.Ala386Glu)
c.2984C>A (p.Ala995Glu)
c.2411C>A (p.Ala804Glu)
c.2336C>A (p.Ala779Glu)
c.1013C>A (p.Ala338Glu)
3g.38894760C>ACA352174765SCN11Ac.2608G>T (p.Ala870Ser)
c.2428G>T (p.Ala810Ser)
c.2652G>T (n.2652G>T)
c.2227G>T (p.Ala743Ser)
c.1945G>T (p.Ala649Ser)
c.1156G>T (p.Ala386Ser)
c.2983G>T (p.Ala995Ser)
c.2410G>T (p.Ala804Ser)
c.2335G>T (p.Ala779Ser)
c.1012G>T (p.Ala338Ser)
3g.38894760C>GCA352174766SCN11Ac.2608G>C (p.Ala870Pro)
c.2428G>C (p.Ala810Pro)
c.2652G>C (n.2652G>C)
c.2227G>C (p.Ala743Pro)
c.1945G>C (p.Ala649Pro)
c.1156G>C (p.Ala386Pro)
c.2983G>C (p.Ala995Pro)
c.2410G>C (p.Ala804Pro)
c.2335G>C (p.Ala779Pro)
c.1012G>C (p.Ala338Pro)
3g.38894760C>TCA352174764SCN11Ac.2608G>A (p.Ala870Thr)
c.2428G>A (p.Ala810Thr)
c.2652G>A (n.2652G>A)
c.2227G>A (p.Ala743Thr)
c.1945G>A (p.Ala649Thr)
c.1156G>A (p.Ala386Thr)
c.2983G>A (p.Ala995Thr)
c.2410G>A (p.Ala804Thr)
c.2335G>A (p.Ala779Thr)
c.1012G>A (p.Ala338Thr)
 dbSNP gnomAD v4
3g.38894761C>ACA433336109SCN11Ac.2607G>T (p.Val869=)
c.2427G>T (p.Val809=)
c.2651G>T (n.2651G>T)
c.2226G>T (p.Val742=)
c.1944G>T (p.Val648=)
c.1155G>T (p.Val385=)
c.2982G>T (p.Val994=)
c.2409G>T (p.Val803=)
c.2334G>T (p.Val778=)
c.1011G>T (p.Val337=)
3g.38894761C>GCA433336110SCN11Ac.2607G>C (p.Val869=)
c.2427G>C (p.Val809=)
c.2651G>C (n.2651G>C)
c.2226G>C (p.Val742=)
c.1944G>C (p.Val648=)
c.1155G>C (p.Val385=)
c.2982G>C (p.Val994=)
c.2409G>C (p.Val803=)
c.2334G>C (p.Val778=)
c.1011G>C (p.Val337=)
3g.38894761C>TCA433336111SCN11Ac.2607G>A (p.Val869=)
c.2427G>A (p.Val809=)
c.2651G>A (n.2651G>A)
c.2226G>A (p.Val742=)
c.1944G>A (p.Val648=)
c.1155G>A (p.Val385=)
c.2982G>A (p.Val994=)
c.2409G>A (p.Val803=)
c.2334G>A (p.Val778=)
c.1011G>A (p.Val337=)
 gnomAD v4
3g.38894762A>CCA352174767SCN11Ac.2606T>G (p.Val869Gly)
c.2426T>G (p.Val809Gly)
c.2650T>G (n.2650T>G)
c.2225T>G (p.Val742Gly)
c.1943T>G (p.Val648Gly)
c.1154T>G (p.Val385Gly)
c.2981T>G (p.Val994Gly)
c.2408T>G (p.Val803Gly)
c.2333T>G (p.Val778Gly)
c.1010T>G (p.Val337Gly)
3g.38894762A>GCA352174768SCN11Ac.2606T>C (p.Val869Ala)
c.2426T>C (p.Val809Ala)
c.2650T>C (n.2650T>C)
c.2225T>C (p.Val742Ala)
c.1943T>C (p.Val648Ala)
c.1154T>C (p.Val385Ala)
c.2981T>C (p.Val994Ala)
c.2408T>C (p.Val803Ala)
c.2333T>C (p.Val778Ala)
c.1010T>C (p.Val337Ala)
3g.38894762A>TCA352174769SCN11Ac.2606T>A (p.Val869Glu)
c.2426T>A (p.Val809Glu)
c.2650T>A (n.2650T>A)
c.2225T>A (p.Val742Glu)
c.1943T>A (p.Val648Glu)
c.1154T>A (p.Val385Glu)
c.2981T>A (p.Val994Glu)
c.2408T>A (p.Val803Glu)
c.2333T>A (p.Val778Glu)
c.1010T>A (p.Val337Glu)
3g.38894763C>ACA352174770SCN11Ac.2605G>T (p.Val869Leu)
c.2425G>T (p.Val809Leu)
c.2649G>T (n.2649G>T)
c.2224G>T (p.Val742Leu)
c.1942G>T (p.Val648Leu)
c.1153G>T (p.Val385Leu)
c.2980G>T (p.Val994Leu)
c.2407G>T (p.Val803Leu)
c.2332G>T (p.Val778Leu)
c.1009G>T (p.Val337Leu)
3g.38894763C>GCA352174771SCN11Ac.2605G>C (p.Val869Leu)
c.2425G>C (p.Val809Leu)
c.2649G>C (n.2649G>C)
c.2224G>C (p.Val742Leu)
c.1942G>C (p.Val648Leu)
c.1153G>C (p.Val385Leu)
c.2980G>C (p.Val994Leu)
c.2407G>C (p.Val803Leu)
c.2332G>C (p.Val778Leu)
c.1009G>C (p.Val337Leu)
3g.38894763C>TCA352174772SCN11Ac.2605G>A (p.Val869Met)
c.2425G>A (p.Val809Met)
c.2649G>A (n.2649G>A)
c.2224G>A (p.Val742Met)
c.1942G>A (p.Val648Met)
c.1153G>A (p.Val385Met)
c.2980G>A (p.Val994Met)
c.2407G>A (p.Val803Met)
c.2332G>A (p.Val778Met)
c.1009G>A (p.Val337Met)
3g.38894764C>ACA352174773SCN11Ac.2604G>T (p.Glu868Asp)
c.2424G>T (p.Glu808Asp)
c.2648G>T (n.2648G>T)
c.2223G>T (p.Glu741Asp)
c.1941G>T (p.Glu647Asp)
c.1152G>T (p.Glu384Asp)
c.2979G>T (p.Glu993Asp)
c.2406G>T (p.Glu802Asp)
c.2331G>T (p.Glu777Asp)
c.1008G>T (p.Glu336Asp)
3g.38894764C>GCA352174774SCN11Ac.2604G>C (p.Glu868Asp)
c.2424G>C (p.Glu808Asp)
c.2648G>C (n.2648G>C)
c.2223G>C (p.Glu741Asp)
c.1941G>C (p.Glu647Asp)
c.1152G>C (p.Glu384Asp)
c.2979G>C (p.Glu993Asp)
c.2406G>C (p.Glu802Asp)
c.2331G>C (p.Glu777Asp)
c.1008G>C (p.Glu336Asp)
3g.38894764C>TCA433336112SCN11Ac.2604G>A (p.Glu868=)
c.2424G>A (p.Glu808=)
c.2648G>A (n.2648G>A)
c.2223G>A (p.Glu741=)
c.1941G>A (p.Glu647=)
c.1152G>A (p.Glu384=)
c.2979G>A (p.Glu993=)
c.2406G>A (p.Glu802=)
c.2331G>A (p.Glu777=)
c.1008G>A (p.Glu336=)
3g.38894765T>ACA352174775SCN11Ac.2603A>T (p.Glu868Val)
c.2423A>T (p.Glu808Val)
c.2647A>T (n.2647A>T)
c.2222A>T (p.Glu741Val)
c.1940A>T (p.Glu647Val)
c.1151A>T (p.Glu384Val)
c.2978A>T (p.Glu993Val)
c.2405A>T (p.Glu802Val)
c.2330A>T (p.Glu777Val)
c.1007A>T (p.Glu336Val)
3g.38894765T>CCA352174776SCN11Ac.2603A>G (p.Glu868Gly)
c.2423A>G (p.Glu808Gly)
c.2647A>G (n.2647A>G)
c.2222A>G (p.Glu741Gly)
c.1940A>G (p.Glu647Gly)
c.1151A>G (p.Glu384Gly)
c.2978A>G (p.Glu993Gly)
c.2405A>G (p.Glu802Gly)
c.2330A>G (p.Glu777Gly)
c.1007A>G (p.Glu336Gly)
 ClinVar gnomAD v4
3g.38894765T>GCA352174777SCN11Ac.2603A>C (p.Glu868Ala)
c.2423A>C (p.Glu808Ala)
c.2647A>C (n.2647A>C)
c.2222A>C (p.Glu741Ala)
c.1940A>C (p.Glu647Ala)
c.1151A>C (p.Glu384Ala)
c.2978A>C (p.Glu993Ala)
c.2405A>C (p.Glu802Ala)
c.2330A>C (p.Glu777Ala)
c.1007A>C (p.Glu336Ala)
3g.38894766C>ACA352174778SCN11Ac.2602G>T (p.Glu868Ter)
c.2422G>T (p.Glu808Ter)
c.2646G>T (n.2646G>T)
c.2221G>T (p.Glu741Ter)
c.1939G>T (p.Glu647Ter)
c.1150G>T (p.Glu384Ter)
c.2977G>T (p.Glu993Ter)
c.2404G>T (p.Glu802Ter)
c.2329G>T (p.Glu777Ter)
c.1006G>T (p.Glu336Ter)
 dbSNP
3g.38894766C=CA1358718209SCN11Ac.2602G= (p.Glu868=)
c.2422G= (p.Glu808=)
c.2646G= (n.2646G=)
c.2221G= (p.Glu741=)
c.1939G= (p.Glu647=)
c.1150G= (p.Glu384=)
c.2977G= (p.Glu993=)
c.2404G= (p.Glu802=)
c.2329G= (p.Glu777=)
c.1006G= (p.Glu336=)
3g.38894766C>GCA352174779SCN11Ac.2602G>C (p.Glu868Gln)
c.2422G>C (p.Glu808Gln)
c.2646G>C (n.2646G>C)
c.2221G>C (p.Glu741Gln)
c.1939G>C (p.Glu647Gln)
c.1150G>C (p.Glu384Gln)
c.2977G>C (p.Glu993Gln)
c.2404G>C (p.Glu802Gln)
c.2329G>C (p.Glu777Gln)
c.1006G>C (p.Glu336Gln)
 dbSNP gnomAD v4
3g.38894766C>TCA352174780SCN11Ac.2602G>A (p.Glu868Lys)
c.2422G>A (p.Glu808Lys)
c.2646G>A (n.2646G>A)
c.2221G>A (p.Glu741Lys)
c.1939G>A (p.Glu647Lys)
c.1150G>A (p.Glu384Lys)
c.2977G>A (p.Glu993Lys)
c.2404G>A (p.Glu802Lys)
c.2329G>A (p.Glu777Lys)
c.1006G>A (p.Glu336Lys)
3g.38894767T>ACA352174782SCN11Ac.2601A>T (p.Lys867Asn)
c.2421A>T (p.Lys807Asn)
c.2645A>T (n.2645A>T)
c.2220A>T (p.Lys740Asn)
c.1938A>T (p.Lys646Asn)
c.1149A>T (p.Lys383Asn)
c.2976A>T (p.Lys992Asn)
c.2403A>T (p.Lys801Asn)
c.2328A>T (p.Lys776Asn)
c.1005A>T (p.Lys335Asn)
3g.38894767T>CCA433336113SCN11Ac.2601A>G (p.Lys867=)
c.2421A>G (p.Lys807=)
c.2645A>G (n.2645A>G)
c.2220A>G (p.Lys740=)
c.1938A>G (p.Lys646=)
c.1149A>G (p.Lys383=)
c.2976A>G (p.Lys992=)
c.2403A>G (p.Lys801=)
c.2328A>G (p.Lys776=)
c.1005A>G (p.Lys335=)
3g.38894767T>GCA352174781SCN11Ac.2601A>C (p.Lys867Asn)
c.2421A>C (p.Lys807Asn)
c.2645A>C (n.2645A>C)
c.2220A>C (p.Lys740Asn)
c.1938A>C (p.Lys646Asn)
c.1149A>C (p.Lys383Asn)
c.2976A>C (p.Lys992Asn)
c.2403A>C (p.Lys801Asn)
c.2328A>C (p.Lys776Asn)
c.1005A>C (p.Lys335Asn)
3g.38894768T>ACA352174783SCN11Ac.2600A>T (p.Lys867Ile)
c.2420A>T (p.Lys807Ile)
c.2644A>T (n.2644A>T)
c.2219A>T (p.Lys740Ile)
c.1937A>T (p.Lys646Ile)
c.1148A>T (p.Lys383Ile)
c.2975A>T (p.Lys992Ile)
c.2402A>T (p.Lys801Ile)
c.2327A>T (p.Lys776Ile)
c.1004A>T (p.Lys335Ile)
3g.38894768T>CCA352174784SCN11Ac.2600A>G (p.Lys867Arg)
c.2420A>G (p.Lys807Arg)
c.2644A>G (n.2644A>G)
c.2219A>G (p.Lys740Arg)
c.1937A>G (p.Lys646Arg)
c.1148A>G (p.Lys383Arg)
c.2975A>G (p.Lys992Arg)
c.2402A>G (p.Lys801Arg)
c.2327A>G (p.Lys776Arg)
c.1004A>G (p.Lys335Arg)
3g.38894768T>GCA352174785SCN11Ac.2600A>C (p.Lys867Thr)
c.2420A>C (p.Lys807Thr)
c.2644A>C (n.2644A>C)
c.2219A>C (p.Lys740Thr)
c.1937A>C (p.Lys646Thr)
c.1148A>C (p.Lys383Thr)
c.2975A>C (p.Lys992Thr)
c.2402A>C (p.Lys801Thr)
c.2327A>C (p.Lys776Thr)
c.1004A>C (p.Lys335Thr)
3g.38894769T>ACA352174786SCN11Ac.2599A>T (p.Lys867Ter)
c.2419A>T (p.Lys807Ter)
c.2643A>T (n.2643A>T)
c.2218A>T (p.Lys740Ter)
c.1936A>T (p.Lys646Ter)
c.1147A>T (p.Lys383Ter)
c.2974A>T (p.Lys992Ter)
c.2401A>T (p.Lys801Ter)
c.2326A>T (p.Lys776Ter)
c.1003A>T (p.Lys335Ter)
 dbSNP
3g.38894769T>CCA352174787SCN11Ac.2599A>G (p.Lys867Glu)
c.2419A>G (p.Lys807Glu)
c.2643A>G (n.2643A>G)
c.2218A>G (p.Lys740Glu)
c.1936A>G (p.Lys646Glu)
c.1147A>G (p.Lys383Glu)
c.2974A>G (p.Lys992Glu)
c.2401A>G (p.Lys801Glu)
c.2326A>G (p.Lys776Glu)
c.1003A>G (p.Lys335Glu)
3g.38894769T>GCA352174788SCN11Ac.2599A>C (p.Lys867Gln)
c.2419A>C (p.Lys807Gln)
c.2643A>C (n.2643A>C)
c.2218A>C (p.Lys740Gln)
c.1936A>C (p.Lys646Gln)
c.1147A>C (p.Lys383Gln)
c.2974A>C (p.Lys992Gln)
c.2401A>C (p.Lys801Gln)
c.2326A>C (p.Lys776Gln)
c.1003A>C (p.Lys335Gln)
 COSMIC
3g.38894769T=CA1358718210SCN11Ac.2599A= (p.Lys867=)
c.2419A= (p.Lys807=)
c.2643A= (n.2643A=)
c.2218A= (p.Lys740=)
c.1936A= (p.Lys646=)
c.1147A= (p.Lys383=)
c.2974A= (p.Lys992=)
c.2401A= (p.Lys801=)
c.2326A= (p.Lys776=)
c.1003A= (p.Lys335=)
3g.38894770T>ACA352174789SCN11Ac.2598A>T (p.Gln866His)
c.2418A>T (p.Gln806His)
c.2642A>T (n.2642A>T)
c.2217A>T (p.Gln739His)
c.1935A>T (p.Gln645His)
c.1146A>T (p.Gln382His)
c.2973A>T (p.Gln991His)
c.2400A>T (p.Gln800His)
c.2325A>T (p.Gln775His)
c.1002A>T (p.Gln334His)
3g.38894770T>CCA433336114SCN11Ac.2598A>G (p.Gln866=)
c.2418A>G (p.Gln806=)
c.2642A>G (n.2642A>G)
c.2217A>G (p.Gln739=)
c.1935A>G (p.Gln645=)
c.1146A>G (p.Gln382=)
c.2973A>G (p.Gln991=)
c.2400A>G (p.Gln800=)
c.2325A>G (p.Gln775=)
c.1002A>G (p.Gln334=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894770T>GCA352174790SCN11Ac.2598A>C (p.Gln866His)
c.2418A>C (p.Gln806His)
c.2642A>C (n.2642A>C)
c.2217A>C (p.Gln739His)
c.1935A>C (p.Gln645His)
c.1146A>C (p.Gln382His)
c.2973A>C (p.Gln991His)
c.2400A>C (p.Gln800His)
c.2325A>C (p.Gln775His)
c.1002A>C (p.Gln334His)
 COSMIC
3g.38894770T=CA1358718211SCN11Ac.2598A= (p.Gln866=)
c.2418A= (p.Gln806=)
c.2642A= (n.2642A=)
c.2217A= (p.Gln739=)
c.1935A= (p.Gln645=)
c.1146A= (p.Gln382=)
c.2973A= (p.Gln991=)
c.2400A= (p.Gln800=)
c.2325A= (p.Gln775=)
c.1002A= (p.Gln334=)
3g.38894771T>ACA352174791SCN11Ac.2597A>T (p.Gln866Leu)
c.2417A>T (p.Gln806Leu)
c.2641A>T (n.2641A>T)
c.2216A>T (p.Gln739Leu)
c.1934A>T (p.Gln645Leu)
c.1145A>T (p.Gln382Leu)
c.2972A>T (p.Gln991Leu)
c.2399A>T (p.Gln800Leu)
c.2324A>T (p.Gln775Leu)
c.1001A>T (p.Gln334Leu)
3g.38894771T>CCA352174792SCN11Ac.2597A>G (p.Gln866Arg)
c.2417A>G (p.Gln806Arg)
c.2641A>G (n.2641A>G)
c.2216A>G (p.Gln739Arg)
c.1934A>G (p.Gln645Arg)
c.1145A>G (p.Gln382Arg)
c.2972A>G (p.Gln991Arg)
c.2399A>G (p.Gln800Arg)
c.2324A>G (p.Gln775Arg)
c.1001A>G (p.Gln334Arg)
3g.38894771T>GCA352174793SCN11Ac.2597A>C (p.Gln866Pro)
c.2417A>C (p.Gln806Pro)
c.2641A>C (n.2641A>C)
c.2216A>C (p.Gln739Pro)
c.1934A>C (p.Gln645Pro)
c.1145A>C (p.Gln382Pro)
c.2972A>C (p.Gln991Pro)
c.2399A>C (p.Gln800Pro)
c.2324A>C (p.Gln775Pro)
c.1001A>C (p.Gln334Pro)
3g.38894772G>ACA352174794SCN11Ac.2596C>T (p.Gln866Ter)
c.2416C>T (p.Gln806Ter)
c.2640C>T (n.2640C>T)
c.2215C>T (p.Gln739Ter)
c.1933C>T (p.Gln645Ter)
c.1144C>T (p.Gln382Ter)
c.2971C>T (p.Gln991Ter)
c.2398C>T (p.Gln800Ter)
c.2323C>T (p.Gln775Ter)
c.1000C>T (p.Gln334Ter)
 ClinVar dbSNP
3g.38894772G>CCA2322009SCN11Ac.2596C>G (p.Gln866Glu)
c.2416C>G (p.Gln806Glu)
c.2640C>G (n.2640C>G)
c.2215C>G (p.Gln739Glu)
c.1933C>G (p.Gln645Glu)
c.1144C>G (p.Gln382Glu)
c.2971C>G (p.Gln991Glu)
c.2398C>G (p.Gln800Glu)
c.2323C>G (p.Gln775Glu)
c.1000C>G (p.Gln334Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894772G=CA1358718212SCN11Ac.2596C= (p.Gln866=)
c.2416C= (p.Gln806=)
c.2640C= (n.2640C=)
c.2215C= (p.Gln739=)
c.1933C= (p.Gln645=)
c.1144C= (p.Gln382=)
c.2971C= (p.Gln991=)
c.2398C= (p.Gln800=)
c.2323C= (p.Gln775=)
c.1000C= (p.Gln334=)
3g.38894772G>TCA352174795SCN11Ac.2596C>A (p.Gln866Lys)
c.2416C>A (p.Gln806Lys)
c.2640C>A (n.2640C>A)
c.2215C>A (p.Gln739Lys)
c.1933C>A (p.Gln645Lys)
c.1144C>A (p.Gln382Lys)
c.2971C>A (p.Gln991Lys)
c.2398C>A (p.Gln800Lys)
c.2323C>A (p.Gln775Lys)
c.1000C>A (p.Gln334Lys)
 gnomAD v4
3g.38894773C>ACA352174797SCN11Ac.2595G>T (p.Gln865His)
c.2415G>T (p.Gln805His)
c.2639G>T (n.2639G>T)
c.2214G>T (p.Gln738His)
c.1932G>T (p.Gln644His)
c.1143G>T (p.Gln381His)
c.2970G>T (p.Gln990His)
c.2397G>T (p.Gln799His)
c.2322G>T (p.Gln774His)
c.999G>T (p.Gln333His)
3g.38894773C=CA1358718213SCN11Ac.2595G= (p.Gln865=)
c.2415G= (p.Gln805=)
c.2639G= (n.2639G=)
c.2214G= (p.Gln738=)
c.1932G= (p.Gln644=)
c.1143G= (p.Gln381=)
c.2970G= (p.Gln990=)
c.2397G= (p.Gln799=)
c.2322G= (p.Gln774=)
c.999G= (p.Gln333=)
3g.38894773C>GCA352174796SCN11Ac.2595G>C (p.Gln865His)
c.2415G>C (p.Gln805His)
c.2639G>C (n.2639G>C)
c.2214G>C (p.Gln738His)
c.1932G>C (p.Gln644His)
c.1143G>C (p.Gln381His)
c.2970G>C (p.Gln990His)
c.2397G>C (p.Gln799His)
c.2322G>C (p.Gln774His)
c.999G>C (p.Gln333His)
3g.38894773C>TCA2322010SCN11Ac.2595G>A (p.Gln865=)
c.2415G>A (p.Gln805=)
c.2639G>A (n.2639G>A)
c.2214G>A (p.Gln738=)
c.1932G>A (p.Gln644=)
c.1143G>A (p.Gln381=)
c.2970G>A (p.Gln990=)
c.2397G>A (p.Gln799=)
c.2322G>A (p.Gln774=)
c.999G>A (p.Gln333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894774T>ACA352174798SCN11Ac.2594A>T (p.Gln865Leu)
c.2414A>T (p.Gln805Leu)
c.2638A>T (n.2638A>T)
c.2213A>T (p.Gln738Leu)
c.1931A>T (p.Gln644Leu)
c.1142A>T (p.Gln381Leu)
c.2969A>T (p.Gln990Leu)
c.2396A>T (p.Gln799Leu)
c.2321A>T (p.Gln774Leu)
c.998A>T (p.Gln333Leu)
3g.38894774T>CCA352174799SCN11Ac.2594A>G (p.Gln865Arg)
c.2414A>G (p.Gln805Arg)
c.2638A>G (n.2638A>G)
c.2213A>G (p.Gln738Arg)
c.1931A>G (p.Gln644Arg)
c.1142A>G (p.Gln381Arg)
c.2969A>G (p.Gln990Arg)
c.2396A>G (p.Gln799Arg)
c.2321A>G (p.Gln774Arg)
c.998A>G (p.Gln333Arg)
 dbSNP gnomAD v4
3g.38894774T>GCA352174800SCN11Ac.2594A>C (p.Gln865Pro)
c.2414A>C (p.Gln805Pro)
c.2638A>C (n.2638A>C)
c.2213A>C (p.Gln738Pro)
c.1931A>C (p.Gln644Pro)
c.1142A>C (p.Gln381Pro)
c.2969A>C (p.Gln990Pro)
c.2396A>C (p.Gln799Pro)
c.2321A>C (p.Gln774Pro)
c.998A>C (p.Gln333Pro)
 dbSNP
3g.38894774T=CA1358718214SCN11Ac.2594A= (p.Gln865=)
c.2414A= (p.Gln805=)
c.2638A= (n.2638A=)
c.2213A= (p.Gln738=)
c.1931A= (p.Gln644=)
c.1142A= (p.Gln381=)
c.2969A= (p.Gln990=)
c.2396A= (p.Gln799=)
c.2321A= (p.Gln774=)
c.998A= (p.Gln333=)
3g.38894775G>ACA352174801SCN11Ac.2593C>T (p.Gln865Ter)
c.2413C>T (p.Gln805Ter)
c.2637C>T (n.2637C>T)
c.2212C>T (p.Gln738Ter)
c.1930C>T (p.Gln644Ter)
c.1141C>T (p.Gln381Ter)
c.2968C>T (p.Gln990Ter)
c.2395C>T (p.Gln799Ter)
c.2320C>T (p.Gln774Ter)
c.997C>T (p.Gln333Ter)
 dbSNP
3g.38894775G>CCA352174802SCN11Ac.2593C>G (p.Gln865Glu)
c.2413C>G (p.Gln805Glu)
c.2637C>G (n.2637C>G)
c.2212C>G (p.Gln738Glu)
c.1930C>G (p.Gln644Glu)
c.1141C>G (p.Gln381Glu)
c.2968C>G (p.Gln990Glu)
c.2395C>G (p.Gln799Glu)
c.2320C>G (p.Gln774Glu)
c.997C>G (p.Gln333Glu)
3g.38894775G=CA1358718215SCN11Ac.2593C= (p.Gln865=)
c.2413C= (p.Gln805=)
c.2637C= (n.2637C=)
c.2212C= (p.Gln738=)
c.1930C= (p.Gln644=)
c.1141C= (p.Gln381=)
c.2968C= (p.Gln990=)
c.2395C= (p.Gln799=)
c.2320C= (p.Gln774=)
c.997C= (p.Gln333=)
3g.38894775G>TCA352174803SCN11Ac.2593C>A (p.Gln865Lys)
c.2413C>A (p.Gln805Lys)
c.2637C>A (n.2637C>A)
c.2212C>A (p.Gln738Lys)
c.1930C>A (p.Gln644Lys)
c.1141C>A (p.Gln381Lys)
c.2968C>A (p.Gln990Lys)
c.2395C>A (p.Gln799Lys)
c.2320C>A (p.Gln774Lys)
c.997C>A (p.Gln333Lys)
3g.38894776T>ACA433336117SCN11Ac.2592A>T (p.Pro864=)
c.2412A>T (p.Pro804=)
c.2636A>T (n.2636A>T)
c.2211A>T (p.Pro737=)
c.1929A>T (p.Pro643=)
c.1140A>T (p.Pro380=)
c.2967A>T (p.Pro989=)
c.2394A>T (p.Pro798=)
c.2319A>T (p.Pro773=)
c.996A>T (p.Pro332=)
 gnomAD v4
3g.38894776T>CCA433336115SCN11Ac.2592A>G (p.Pro864=)
c.2412A>G (p.Pro804=)
c.2636A>G (n.2636A>G)
c.2211A>G (p.Pro737=)
c.1929A>G (p.Pro643=)
c.1140A>G (p.Pro380=)
c.2967A>G (p.Pro989=)
c.2394A>G (p.Pro798=)
c.2319A>G (p.Pro773=)
c.996A>G (p.Pro332=)
3g.38894776T>GCA433336116SCN11Ac.2592A>C (p.Pro864=)
c.2412A>C (p.Pro804=)
c.2636A>C (n.2636A>C)
c.2211A>C (p.Pro737=)
c.1929A>C (p.Pro643=)
c.1140A>C (p.Pro380=)
c.2967A>C (p.Pro989=)
c.2394A>C (p.Pro798=)
c.2319A>C (p.Pro773=)
c.996A>C (p.Pro332=)
3g.38894777G>ACA352174804SCN11Ac.2591C>T (p.Pro864Leu)
c.2411C>T (p.Pro804Leu)
c.2635C>T (n.2635C>T)
c.2210C>T (p.Pro737Leu)
c.1928C>T (p.Pro643Leu)
c.1139C>T (p.Pro380Leu)
c.2966C>T (p.Pro989Leu)
c.2393C>T (p.Pro798Leu)
c.2318C>T (p.Pro773Leu)
c.995C>T (p.Pro332Leu)
 gnomAD v4
3g.38894777G>CCA352174805SCN11Ac.2591C>G (p.Pro864Arg)
c.2411C>G (p.Pro804Arg)
c.2635C>G (n.2635C>G)
c.2210C>G (p.Pro737Arg)
c.1928C>G (p.Pro643Arg)
c.1139C>G (p.Pro380Arg)
c.2966C>G (p.Pro989Arg)
c.2393C>G (p.Pro798Arg)
c.2318C>G (p.Pro773Arg)
c.995C>G (p.Pro332Arg)
3g.38894777G>TCA352174806SCN11Ac.2591C>A (p.Pro864Gln)
c.2411C>A (p.Pro804Gln)
c.2635C>A (n.2635C>A)
c.2210C>A (p.Pro737Gln)
c.1928C>A (p.Pro643Gln)
c.1139C>A (p.Pro380Gln)
c.2966C>A (p.Pro989Gln)
c.2393C>A (p.Pro798Gln)
c.2318C>A (p.Pro773Gln)
c.995C>A (p.Pro332Gln)
3g.38894778G>ACA2322011SCN11Ac.2590C>T (p.Pro864Ser)
c.2410C>T (p.Pro804Ser)
c.2634C>T (n.2634C>T)
c.2209C>T (p.Pro737Ser)
c.1927C>T (p.Pro643Ser)
c.1138C>T (p.Pro380Ser)
c.2965C>T (p.Pro989Ser)
c.2392C>T (p.Pro798Ser)
c.2317C>T (p.Pro773Ser)
c.994C>T (p.Pro332Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894778G>CCA352174807SCN11Ac.2590C>G (p.Pro864Ala)
c.2410C>G (p.Pro804Ala)
c.2634C>G (n.2634C>G)
c.2209C>G (p.Pro737Ala)
c.1927C>G (p.Pro643Ala)
c.1138C>G (p.Pro380Ala)
c.2965C>G (p.Pro989Ala)
c.2392C>G (p.Pro798Ala)
c.2317C>G (p.Pro773Ala)
c.994C>G (p.Pro332Ala)
3g.38894778G=CA1358718216SCN11Ac.2590C= (p.Pro864=)
c.2410C= (p.Pro804=)
c.2634C= (n.2634C=)
c.2209C= (p.Pro737=)
c.1927C= (p.Pro643=)
c.1138C= (p.Pro380=)
c.2965C= (p.Pro989=)
c.2392C= (p.Pro798=)
c.2317C= (p.Pro773=)
c.994C= (p.Pro332=)
3g.38894778G>TCA352174808SCN11Ac.2590C>A (p.Pro864Thr)
c.2410C>A (p.Pro804Thr)
c.2634C>A (n.2634C>A)
c.2209C>A (p.Pro737Thr)
c.1927C>A (p.Pro643Thr)
c.1138C>A (p.Pro380Thr)
c.2965C>A (p.Pro989Thr)
c.2392C>A (p.Pro798Thr)
c.2317C>A (p.Pro773Thr)
c.994C>A (p.Pro332Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894779T>ACA352174809SCN11Ac.2589A>T (p.Leu863Phe)
c.2409A>T (p.Leu803Phe)
c.2633A>T (n.2633A>T)
c.2208A>T (p.Leu736Phe)
c.1926A>T (p.Leu642Phe)
c.1137A>T (p.Leu379Phe)
c.2964A>T (p.Leu988Phe)
c.2391A>T (p.Leu797Phe)
c.2316A>T (p.Leu772Phe)
c.993A>T (p.Leu331Phe)
3g.38894779T>CCA433336118SCN11Ac.2589A>G (p.Leu863=)
c.2409A>G (p.Leu803=)
c.2633A>G (n.2633A>G)
c.2208A>G (p.Leu736=)
c.1926A>G (p.Leu642=)
c.1137A>G (p.Leu379=)
c.2964A>G (p.Leu988=)
c.2391A>G (p.Leu797=)
c.2316A>G (p.Leu772=)
c.993A>G (p.Leu331=)
3g.38894779T>GCA352174810SCN11Ac.2589A>C (p.Leu863Phe)
c.2409A>C (p.Leu803Phe)
c.2633A>C (n.2633A>C)
c.2208A>C (p.Leu736Phe)
c.1926A>C (p.Leu642Phe)
c.1137A>C (p.Leu379Phe)
c.2964A>C (p.Leu988Phe)
c.2391A>C (p.Leu797Phe)
c.2316A>C (p.Leu772Phe)
c.993A>C (p.Leu331Phe)
3g.38894780A>CCA352174812SCN11Ac.2588T>G (p.Leu863Ter)
c.2408T>G (p.Leu803Ter)
c.2632T>G (n.2632T>G)
c.2207T>G (p.Leu736Ter)
c.1925T>G (p.Leu642Ter)
c.1136T>G (p.Leu379Ter)
c.2963T>G (p.Leu988Ter)
c.2390T>G (p.Leu797Ter)
c.2315T>G (p.Leu772Ter)
c.992T>G (p.Leu331Ter)
3g.38894780A>GCA352174813SCN11Ac.2588T>C (p.Leu863Ser)
c.2408T>C (p.Leu803Ser)
c.2632T>C (n.2632T>C)
c.2207T>C (p.Leu736Ser)
c.1925T>C (p.Leu642Ser)
c.1136T>C (p.Leu379Ser)
c.2963T>C (p.Leu988Ser)
c.2390T>C (p.Leu797Ser)
c.2315T>C (p.Leu772Ser)
c.992T>C (p.Leu331Ser)
3g.38894780A>TCA352174811SCN11Ac.2588T>A (p.Leu863Ter)
c.2408T>A (p.Leu803Ter)
c.2632T>A (n.2632T>A)
c.2207T>A (p.Leu736Ter)
c.1925T>A (p.Leu642Ter)
c.1136T>A (p.Leu379Ter)
c.2963T>A (p.Leu988Ter)
c.2390T>A (p.Leu797Ter)
c.2315T>A (p.Leu772Ter)
c.992T>A (p.Leu331Ter)
3g.38894781A>CCA352174814SCN11Ac.2587T>G (p.Leu863Val)
c.2407T>G (p.Leu803Val)
c.2631T>G (n.2631T>G)
c.2206T>G (p.Leu736Val)
c.1924T>G (p.Leu642Val)
c.1135T>G (p.Leu379Val)
c.2962T>G (p.Leu988Val)
c.2389T>G (p.Leu797Val)
c.2314T>G (p.Leu772Val)
c.991T>G (p.Leu331Val)
3g.38894781A>GCA433336119SCN11Ac.2587T>C (p.Leu863=)
c.2407T>C (p.Leu803=)
c.2631T>C (n.2631T>C)
c.2206T>C (p.Leu736=)
c.1924T>C (p.Leu642=)
c.1135T>C (p.Leu379=)
c.2962T>C (p.Leu988=)
c.2389T>C (p.Leu797=)
c.2314T>C (p.Leu772=)
c.991T>C (p.Leu331=)
 gnomAD v4
3g.38894781A>TCA352174815SCN11Ac.2587T>A (p.Leu863Ile)
c.2407T>A (p.Leu803Ile)
c.2631T>A (n.2631T>A)
c.2206T>A (p.Leu736Ile)
c.1924T>A (p.Leu642Ile)
c.1135T>A (p.Leu379Ile)
c.2962T>A (p.Leu988Ile)
c.2389T>A (p.Leu797Ile)
c.2314T>A (p.Leu772Ile)
c.991T>A (p.Leu331Ile)
3g.38894782G>ACA433336120SCN11Ac.2586C>T (p.Asn862=)
c.2406C>T (p.Asn802=)
c.2630C>T (n.2630C>T)
c.2205C>T (p.Asn735=)
c.1923C>T (p.Asn641=)
c.1134C>T (p.Asn378=)
c.2961C>T (p.Asn987=)
c.2388C>T (p.Asn796=)
c.2313C>T (p.Asn771=)
c.990C>T (p.Asn330=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894782G>CCA352174816SCN11Ac.2586C>G (p.Asn862Lys)
c.2406C>G (p.Asn802Lys)
c.2630C>G (n.2630C>G)
c.2205C>G (p.Asn735Lys)
c.1923C>G (p.Asn641Lys)
c.1134C>G (p.Asn378Lys)
c.2961C>G (p.Asn987Lys)
c.2388C>G (p.Asn796Lys)
c.2313C>G (p.Asn771Lys)
c.990C>G (p.Asn330Lys)
3g.38894782G=CA1358718217SCN11Ac.2586C= (p.Asn862=)
c.2406C= (p.Asn802=)
c.2630C= (n.2630C=)
c.2205C= (p.Asn735=)
c.1923C= (p.Asn641=)
c.1134C= (p.Asn378=)
c.2961C= (p.Asn987=)
c.2388C= (p.Asn796=)
c.2313C= (p.Asn771=)
c.990C= (p.Asn330=)
3g.38894782G>TCA352174817SCN11Ac.2586C>A (p.Asn862Lys)
c.2406C>A (p.Asn802Lys)
c.2630C>A (n.2630C>A)
c.2205C>A (p.Asn735Lys)
c.1923C>A (p.Asn641Lys)
c.1134C>A (p.Asn378Lys)
c.2961C>A (p.Asn987Lys)
c.2388C>A (p.Asn796Lys)
c.2313C>A (p.Asn771Lys)
c.990C>A (p.Asn330Lys)
3g.38894783T>ACA352174818SCN11Ac.2585A>T (p.Asn862Ile)
c.2405A>T (p.Asn802Ile)
c.2629A>T (n.2629A>T)
c.2204A>T (p.Asn735Ile)
c.1922A>T (p.Asn641Ile)
c.1133A>T (p.Asn378Ile)
c.2960A>T (p.Asn987Ile)
c.2387A>T (p.Asn796Ile)
c.2312A>T (p.Asn771Ile)
c.989A>T (p.Asn330Ile)
3g.38894783T>CCA352174819SCN11Ac.2585A>G (p.Asn862Ser)
c.2405A>G (p.Asn802Ser)
c.2629A>G (n.2629A>G)
c.2204A>G (p.Asn735Ser)
c.1922A>G (p.Asn641Ser)
c.1133A>G (p.Asn378Ser)
c.2960A>G (p.Asn987Ser)
c.2387A>G (p.Asn796Ser)
c.2312A>G (p.Asn771Ser)
c.989A>G (p.Asn330Ser)
3g.38894783T>GCA352174820SCN11Ac.2585A>C (p.Asn862Thr)
c.2405A>C (p.Asn802Thr)
c.2629A>C (n.2629A>C)
c.2204A>C (p.Asn735Thr)
c.1922A>C (p.Asn641Thr)
c.1133A>C (p.Asn378Thr)
c.2960A>C (p.Asn987Thr)
c.2387A>C (p.Asn796Thr)
c.2312A>C (p.Asn771Thr)
c.989A>C (p.Asn330Thr)
3g.38894784T>ACA352174821SCN11Ac.2584A>T (p.Asn862Tyr)
c.2404A>T (p.Asn802Tyr)
c.2628A>T (n.2628A>T)
c.2203A>T (p.Asn735Tyr)
c.1921A>T (p.Asn641Tyr)
c.1132A>T (p.Asn378Tyr)
c.2959A>T (p.Asn987Tyr)
c.2386A>T (p.Asn796Tyr)
c.2311A>T (p.Asn771Tyr)
c.988A>T (p.Asn330Tyr)
3g.38894784T>CCA352174822SCN11Ac.2584A>G (p.Asn862Asp)
c.2404A>G (p.Asn802Asp)
c.2628A>G (n.2628A>G)
c.2203A>G (p.Asn735Asp)
c.1921A>G (p.Asn641Asp)
c.1132A>G (p.Asn378Asp)
c.2959A>G (p.Asn987Asp)
c.2386A>G (p.Asn796Asp)
c.2311A>G (p.Asn771Asp)
c.988A>G (p.Asn330Asp)
3g.38894784T>GCA352174823SCN11Ac.2584A>C (p.Asn862His)
c.2404A>C (p.Asn802His)
c.2628A>C (n.2628A>C)
c.2203A>C (p.Asn735His)
c.1921A>C (p.Asn641His)
c.1132A>C (p.Asn378His)
c.2959A>C (p.Asn987His)
c.2386A>C (p.Asn796His)
c.2311A>C (p.Asn771His)
c.988A>C (p.Asn330His)
3g.38894785T>ACA352174824SCN11Ac.2583A>T (p.Gln861His)
c.2403A>T (p.Gln801His)
c.2627A>T (n.2627A>T)
c.2202A>T (p.Gln734His)
c.1920A>T (p.Gln640His)
c.1131A>T (p.Gln377His)
c.2958A>T (p.Gln986His)
c.2385A>T (p.Gln795His)
c.2310A>T (p.Gln770His)
c.987A>T (p.Gln329His)
3g.38894785T>CCA433336121SCN11Ac.2583A>G (p.Gln861=)
c.2403A>G (p.Gln801=)
c.2627A>G (n.2627A>G)
c.2202A>G (p.Gln734=)
c.1920A>G (p.Gln640=)
c.1131A>G (p.Gln377=)
c.2958A>G (p.Gln986=)
c.2385A>G (p.Gln795=)
c.2310A>G (p.Gln770=)
c.987A>G (p.Gln329=)
3g.38894785T>GCA352174825SCN11Ac.2583A>C (p.Gln861His)
c.2403A>C (p.Gln801His)
c.2627A>C (n.2627A>C)
c.2202A>C (p.Gln734His)
c.1920A>C (p.Gln640His)
c.1131A>C (p.Gln377His)
c.2958A>C (p.Gln986His)
c.2385A>C (p.Gln795His)
c.2310A>C (p.Gln770His)
c.987A>C (p.Gln329His)
3g.38894786T>ACA352174827SCN11Ac.2582A>T (p.Gln861Leu)
c.2402A>T (p.Gln801Leu)
c.2626A>T (n.2626A>T)
c.2201A>T (p.Gln734Leu)
c.1919A>T (p.Gln640Leu)
c.1130A>T (p.Gln377Leu)
c.2957A>T (p.Gln986Leu)
c.2384A>T (p.Gln795Leu)
c.2309A>T (p.Gln770Leu)
c.986A>T (p.Gln329Leu)
3g.38894786T>CCA72997654SCN11Ac.2582A>G (p.Gln861Arg)
c.2402A>G (p.Gln801Arg)
c.2626A>G (n.2626A>G)
c.2201A>G (p.Gln734Arg)
c.1919A>G (p.Gln640Arg)
c.1130A>G (p.Gln377Arg)
c.2957A>G (p.Gln986Arg)
c.2384A>G (p.Gln795Arg)
c.2309A>G (p.Gln770Arg)
c.986A>G (p.Gln329Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.38894786T>GCA352174826SCN11Ac.2582A>C (p.Gln861Pro)
c.2402A>C (p.Gln801Pro)
c.2626A>C (n.2626A>C)
c.2201A>C (p.Gln734Pro)
c.1919A>C (p.Gln640Pro)
c.1130A>C (p.Gln377Pro)
c.2957A>C (p.Gln986Pro)
c.2384A>C (p.Gln795Pro)
c.2309A>C (p.Gln770Pro)
c.986A>C (p.Gln329Pro)
3g.38894786T=CA1358718218SCN11Ac.2582A= (p.Gln861=)
c.2402A= (p.Gln801=)
c.2626A= (n.2626A=)
c.2201A= (p.Gln734=)
c.1919A= (p.Gln640=)
c.1130A= (p.Gln377=)
c.2957A= (p.Gln986=)
c.2384A= (p.Gln795=)
c.2309A= (p.Gln770=)
c.986A= (p.Gln329=)
3g.38894787G>ACA352174828SCN11Ac.2581C>T (p.Gln861Ter)
c.2401C>T (p.Gln801Ter)
c.2625C>T (n.2625C>T)
c.2200C>T (p.Gln734Ter)
c.1918C>T (p.Gln640Ter)
c.1129C>T (p.Gln377Ter)
c.2956C>T (p.Gln986Ter)
c.2383C>T (p.Gln795Ter)
c.2308C>T (p.Gln770Ter)
c.985C>T (p.Gln329Ter)
3g.38894787G>CCA352174829SCN11Ac.2581C>G (p.Gln861Glu)
c.2401C>G (p.Gln801Glu)
c.2625C>G (n.2625C>G)
c.2200C>G (p.Gln734Glu)
c.1918C>G (p.Gln640Glu)
c.1129C>G (p.Gln377Glu)
c.2956C>G (p.Gln986Glu)
c.2383C>G (p.Gln795Glu)
c.2308C>G (p.Gln770Glu)
c.985C>G (p.Gln329Glu)
3g.38894787G>TCA352174830SCN11Ac.2581C>A (p.Gln861Lys)
c.2401C>A (p.Gln801Lys)
c.2625C>A (n.2625C>A)
c.2200C>A (p.Gln734Lys)
c.1918C>A (p.Gln640Lys)
c.1129C>A (p.Gln377Lys)
c.2956C>A (p.Gln986Lys)
c.2383C>A (p.Gln795Lys)
c.2308C>A (p.Gln770Lys)
c.985C>A (p.Gln329Lys)
 COSMIC
3g.38894788C>ACA352174831SCN11Ac.2580G>T (p.Lys860Asn)
c.2400G>T (p.Lys800Asn)
c.2624G>T (n.2624G>T)
c.2199G>T (p.Lys733Asn)
c.1917G>T (p.Lys639Asn)
c.1128G>T (p.Lys376Asn)
c.2955G>T (p.Lys985Asn)
c.2382G>T (p.Lys794Asn)
c.2307G>T (p.Lys769Asn)
c.984G>T (p.Lys328Asn)
 dbSNP gnomAD v4
3g.38894788C=CA1358718219SCN11Ac.2580G= (p.Lys860=)
c.2400G= (p.Lys800=)
c.2624G= (n.2624G=)
c.2199G= (p.Lys733=)
c.1917G= (p.Lys639=)
c.1128G= (p.Lys376=)
c.2955G= (p.Lys985=)
c.2382G= (p.Lys794=)
c.2307G= (p.Lys769=)
c.984G= (p.Lys328=)
3g.38894788C>GCA352174832SCN11Ac.2580G>C (p.Lys860Asn)
c.2400G>C (p.Lys800Asn)
c.2624G>C (n.2624G>C)
c.2199G>C (p.Lys733Asn)
c.1917G>C (p.Lys639Asn)
c.1128G>C (p.Lys376Asn)
c.2955G>C (p.Lys985Asn)
c.2382G>C (p.Lys794Asn)
c.2307G>C (p.Lys769Asn)
c.984G>C (p.Lys328Asn)
3g.38894788C>TCA433336122SCN11Ac.2580G>A (p.Lys860=)
c.2400G>A (p.Lys800=)
c.2624G>A (n.2624G>A)
c.2199G>A (p.Lys733=)
c.1917G>A (p.Lys639=)
c.1128G>A (p.Lys376=)
c.2955G>A (p.Lys985=)
c.2382G>A (p.Lys794=)
c.2307G>A (p.Lys769=)
c.984G>A (p.Lys328=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894789T>ACA352174835SCN11Ac.2579A>T (p.Lys860Met)
c.2399A>T (p.Lys800Met)
c.2623A>T (n.2623A>T)
c.2198A>T (p.Lys733Met)
c.1916A>T (p.Lys639Met)
c.1127A>T (p.Lys376Met)
c.2954A>T (p.Lys985Met)
c.2381A>T (p.Lys794Met)
c.2306A>T (p.Lys769Met)
c.983A>T (p.Lys328Met)
3g.38894789T>CCA352174833SCN11Ac.2579A>G (p.Lys860Arg)
c.2399A>G (p.Lys800Arg)
c.2623A>G (n.2623A>G)
c.2198A>G (p.Lys733Arg)
c.1916A>G (p.Lys639Arg)
c.1127A>G (p.Lys376Arg)
c.2954A>G (p.Lys985Arg)
c.2381A>G (p.Lys794Arg)
c.2306A>G (p.Lys769Arg)
c.983A>G (p.Lys328Arg)
 COSMIC
3g.38894789T>GCA352174834SCN11Ac.2579A>C (p.Lys860Thr)
c.2399A>C (p.Lys800Thr)
c.2623A>C (n.2623A>C)
c.2198A>C (p.Lys733Thr)
c.1916A>C (p.Lys639Thr)
c.1127A>C (p.Lys376Thr)
c.2954A>C (p.Lys985Thr)
c.2381A>C (p.Lys794Thr)
c.2306A>C (p.Lys769Thr)
c.983A>C (p.Lys328Thr)
3g.38894790T>ACA352174836SCN11Ac.2578A>T (p.Lys860Ter)
c.2398A>T (p.Lys800Ter)
c.2622A>T (n.2622A>T)
c.2197A>T (p.Lys733Ter)
c.1915A>T (p.Lys639Ter)
c.1126A>T (p.Lys376Ter)
c.2953A>T (p.Lys985Ter)
c.2380A>T (p.Lys794Ter)
c.2305A>T (p.Lys769Ter)
c.982A>T (p.Lys328Ter)
 dbSNP
3g.38894790T>CCA352174837SCN11Ac.2578A>G (p.Lys860Glu)
c.2398A>G (p.Lys800Glu)
c.2622A>G (n.2622A>G)
c.2197A>G (p.Lys733Glu)
c.1915A>G (p.Lys639Glu)
c.1126A>G (p.Lys376Glu)
c.2953A>G (p.Lys985Glu)
c.2380A>G (p.Lys794Glu)
c.2305A>G (p.Lys769Glu)
c.982A>G (p.Lys328Glu)
 gnomAD v4
3g.38894790T>GCA352174838SCN11Ac.2578A>C (p.Lys860Gln)
c.2398A>C (p.Lys800Gln)
c.2622A>C (n.2622A>C)
c.2197A>C (p.Lys733Gln)
c.1915A>C (p.Lys639Gln)
c.1126A>C (p.Lys376Gln)
c.2953A>C (p.Lys985Gln)
c.2380A>C (p.Lys794Gln)
c.2305A>C (p.Lys769Gln)
c.982A>C (p.Lys328Gln)
 gnomAD v4
3g.38894790T=CA1358718220SCN11Ac.2578A= (p.Lys860=)
c.2398A= (p.Lys800=)
c.2622A= (n.2622A=)
c.2197A= (p.Lys733=)
c.1915A= (p.Lys639=)
c.1126A= (p.Lys376=)
c.2953A= (p.Lys985=)
c.2380A= (p.Lys794=)
c.2305A= (p.Lys769=)
c.982A= (p.Lys328=)
3g.38894791C>ACA352174839SCN11Ac.2577G>T (p.Arg859Ser)
c.2397G>T (p.Arg799Ser)
c.2621G>T (n.2621G>T)
c.2196G>T (p.Arg732Ser)
c.1914G>T (p.Arg638Ser)
c.1125G>T (p.Arg375Ser)
c.2952G>T (p.Arg984Ser)
c.2379G>T (p.Arg793Ser)
c.2304G>T (p.Arg768Ser)
c.981G>T (p.Arg327Ser)
3g.38894791C>GCA352174840SCN11Ac.2577G>C (p.Arg859Ser)
c.2397G>C (p.Arg799Ser)
c.2621G>C (n.2621G>C)
c.2196G>C (p.Arg732Ser)
c.1914G>C (p.Arg638Ser)
c.1125G>C (p.Arg375Ser)
c.2952G>C (p.Arg984Ser)
c.2379G>C (p.Arg793Ser)
c.2304G>C (p.Arg768Ser)
c.981G>C (p.Arg327Ser)
3g.38894791C>TCA433336123SCN11Ac.2577G>A (p.Arg859=)
c.2397G>A (p.Arg799=)
c.2621G>A (n.2621G>A)
c.2196G>A (p.Arg732=)
c.1914G>A (p.Arg638=)
c.1125G>A (p.Arg375=)
c.2952G>A (p.Arg984=)
c.2379G>A (p.Arg793=)
c.2304G>A (p.Arg768=)
c.981G>A (p.Arg327=)
3g.38894792C>ACA352174841SCN11Ac.2576G>T (p.Arg859Met)
c.2396G>T (p.Arg799Met)
c.2620G>T (n.2620G>T)
c.2195G>T (p.Arg732Met)
c.1913G>T (p.Arg638Met)
c.1124G>T (p.Arg375Met)
c.2951G>T (p.Arg984Met)
c.2378G>T (p.Arg793Met)
c.2303G>T (p.Arg768Met)
c.980G>T (p.Arg327Met)
3g.38894792C=CA1358718221SCN11Ac.2576G= (p.Arg859=)
c.2396G= (p.Arg799=)
c.2620G= (n.2620G=)
c.2195G= (p.Arg732=)
c.1913G= (p.Arg638=)
c.1124G= (p.Arg375=)
c.2951G= (p.Arg984=)
c.2378G= (p.Arg793=)
c.2303G= (p.Arg768=)
c.980G= (p.Arg327=)
3g.38894792C>GCA352174842SCN11Ac.2576G>C (p.Arg859Thr)
c.2396G>C (p.Arg799Thr)
c.2620G>C (n.2620G>C)
c.2195G>C (p.Arg732Thr)
c.1913G>C (p.Arg638Thr)
c.1124G>C (p.Arg375Thr)
c.2951G>C (p.Arg984Thr)
c.2378G>C (p.Arg793Thr)
c.2303G>C (p.Arg768Thr)
c.980G>C (p.Arg327Thr)
3g.38894792C>TCA2322012SCN11Ac.2576G>A (p.Arg859Lys)
c.2396G>A (p.Arg799Lys)
c.2620G>A (n.2620G>A)
c.2195G>A (p.Arg732Lys)
c.1913G>A (p.Arg638Lys)
c.1124G>A (p.Arg375Lys)
c.2951G>A (p.Arg984Lys)
c.2378G>A (p.Arg793Lys)
c.2303G>A (p.Arg768Lys)
c.980G>A (p.Arg327Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894793T>ACA352174843SCN11Ac.2575A>T (p.Arg859Trp)
c.2395A>T (p.Arg799Trp)
c.2619A>T (n.2619A>T)
c.2194A>T (p.Arg732Trp)
c.1912A>T (p.Arg638Trp)
c.1123A>T (p.Arg375Trp)
c.2950A>T (p.Arg984Trp)
c.2377A>T (p.Arg793Trp)
c.2302A>T (p.Arg768Trp)
c.979A>T (p.Arg327Trp)
3g.38894793T>CCA352174844SCN11Ac.2575A>G (p.Arg859Gly)
c.2395A>G (p.Arg799Gly)
c.2619A>G (n.2619A>G)
c.2194A>G (p.Arg732Gly)
c.1912A>G (p.Arg638Gly)
c.1123A>G (p.Arg375Gly)
c.2950A>G (p.Arg984Gly)
c.2377A>G (p.Arg793Gly)
c.2302A>G (p.Arg768Gly)
c.979A>G (p.Arg327Gly)
3g.38894793T>GCA2322013SCN11Ac.2575A>C (p.Arg859=)
c.2395A>C (p.Arg799=)
c.2619A>C (n.2619A>C)
c.2194A>C (p.Arg732=)
c.1912A>C (p.Arg638=)
c.1123A>C (p.Arg375=)
c.2950A>C (p.Arg984=)
c.2377A>C (p.Arg793=)
c.2302A>C (p.Arg768=)
c.979A>C (p.Arg327=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894793T=CA1358718222SCN11Ac.2575A= (p.Arg859=)
c.2395A= (p.Arg799=)
c.2619A= (n.2619A=)
c.2194A= (p.Arg732=)
c.1912A= (p.Arg638=)
c.1123A= (p.Arg375=)
c.2950A= (p.Arg984=)
c.2377A= (p.Arg793=)
c.2302A= (p.Arg768=)
c.979A= (p.Arg327=)
3g.38894794G>ACA433336124SCN11Ac.2574C>T (p.Cys858=)
c.2394C>T (p.Cys798=)
c.2618C>T (n.2618C>T)
c.2193C>T (p.Cys731=)
c.1911C>T (p.Cys637=)
c.1122C>T (p.Cys374=)
c.2949C>T (p.Cys983=)
c.2376C>T (p.Cys792=)
c.2301C>T (p.Cys767=)
c.978C>T (p.Cys326=)
3g.38894794G>CCA352174845SCN11Ac.2574C>G (p.Cys858Trp)
c.2394C>G (p.Cys798Trp)
c.2618C>G (n.2618C>G)
c.2193C>G (p.Cys731Trp)
c.1911C>G (p.Cys637Trp)
c.1122C>G (p.Cys374Trp)
c.2949C>G (p.Cys983Trp)
c.2376C>G (p.Cys792Trp)
c.2301C>G (p.Cys767Trp)
c.978C>G (p.Cys326Trp)
3g.38894794G=CA1358718223SCN11Ac.2574C= (p.Cys858=)
c.2394C= (p.Cys798=)
c.2618C= (n.2618C=)
c.2193C= (p.Cys731=)
c.1911C= (p.Cys637=)
c.1122C= (p.Cys374=)
c.2949C= (p.Cys983=)
c.2376C= (p.Cys792=)
c.2301C= (p.Cys767=)
c.978C= (p.Cys326=)
3g.38894794G>TCA352174846SCN11Ac.2574C>A (p.Cys858Ter)
c.2394C>A (p.Cys798Ter)
c.2618C>A (n.2618C>A)
c.2193C>A (p.Cys731Ter)
c.1911C>A (p.Cys637Ter)
c.1122C>A (p.Cys374Ter)
c.2949C>A (p.Cys983Ter)
c.2376C>A (p.Cys792Ter)
c.2301C>A (p.Cys767Ter)
c.978C>A (p.Cys326Ter)
 dbSNP gnomAD v4
3g.38894795C>ACA352174848SCN11Ac.2573G>T (p.Cys858Phe)
c.2393G>T (p.Cys798Phe)
c.2617G>T (n.2617G>T)
c.2192G>T (p.Cys731Phe)
c.1910G>T (p.Cys637Phe)
c.1121G>T (p.Cys374Phe)
c.2948G>T (p.Cys983Phe)
c.2375G>T (p.Cys792Phe)
c.2300G>T (p.Cys767Phe)
c.977G>T (p.Cys326Phe)
 dbSNP gnomAD v4
3g.38894795C=CA1358718224SCN11Ac.2573G= (p.Cys858=)
c.2393G= (p.Cys798=)
c.2617G= (n.2617G=)
c.2192G= (p.Cys731=)
c.1910G= (p.Cys637=)
c.1121G= (p.Cys374=)
c.2948G= (p.Cys983=)
c.2375G= (p.Cys792=)
c.2300G= (p.Cys767=)
c.977G= (p.Cys326=)
3g.38894795C>GCA352174847SCN11Ac.2573G>C (p.Cys858Ser)
c.2393G>C (p.Cys798Ser)
c.2617G>C (n.2617G>C)
c.2192G>C (p.Cys731Ser)
c.1910G>C (p.Cys637Ser)
c.1121G>C (p.Cys374Ser)
c.2948G>C (p.Cys983Ser)
c.2375G>C (p.Cys792Ser)
c.2300G>C (p.Cys767Ser)
c.977G>C (p.Cys326Ser)
3g.38894795C>TCA72997666SCN11Ac.2573G>A (p.Cys858Tyr)
c.2393G>A (p.Cys798Tyr)
c.2617G>A (n.2617G>A)
c.2192G>A (p.Cys731Tyr)
c.1910G>A (p.Cys637Tyr)
c.1121G>A (p.Cys374Tyr)
c.2948G>A (p.Cys983Tyr)
c.2375G>A (p.Cys792Tyr)
c.2300G>A (p.Cys767Tyr)
c.977G>A (p.Cys326Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.38894796A=CA1358718225SCN11Ac.2572T= (p.Cys858=)
c.2392T= (p.Cys798=)
c.2616T= (n.2616T=)
c.2191T= (p.Cys731=)
c.1909T= (p.Cys637=)
c.1120T= (p.Cys374=)
c.2947T= (p.Cys983=)
c.2374T= (p.Cys792=)
c.2299T= (p.Cys767=)
c.976T= (p.Cys326=)
3g.38894796A>CCA352174849SCN11Ac.2572T>G (p.Cys858Gly)
c.2392T>G (p.Cys798Gly)
c.2616T>G (n.2616T>G)
c.2191T>G (p.Cys731Gly)
c.1909T>G (p.Cys637Gly)
c.1120T>G (p.Cys374Gly)
c.2947T>G (p.Cys983Gly)
c.2374T>G (p.Cys792Gly)
c.2299T>G (p.Cys767Gly)
c.976T>G (p.Cys326Gly)
3g.38894796A>GCA352174850SCN11Ac.2572T>C (p.Cys858Arg)
c.2392T>C (p.Cys798Arg)
c.2616T>C (n.2616T>C)
c.2191T>C (p.Cys731Arg)
c.1909T>C (p.Cys637Arg)
c.1120T>C (p.Cys374Arg)
c.2947T>C (p.Cys983Arg)
c.2374T>C (p.Cys792Arg)
c.2299T>C (p.Cys767Arg)
c.976T>C (p.Cys326Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38894796A>TCA352174851SCN11Ac.2572T>A (p.Cys858Ser)
c.2392T>A (p.Cys798Ser)
c.2616T>A (n.2616T>A)
c.2191T>A (p.Cys731Ser)
c.1909T>A (p.Cys637Ser)
c.1120T>A (p.Cys374Ser)
c.2947T>A (p.Cys983Ser)
c.2374T>A (p.Cys792Ser)
c.2299T>A (p.Cys767Ser)
c.976T>A (p.Cys326Ser)
3g.38894797C>ACA352174852SCN11Ac.2571G>T (p.Trp857Cys)
c.2391G>T (p.Trp797Cys)
c.2615G>T (n.2615G>T)
c.2190G>T (p.Trp730Cys)
c.1908G>T (p.Trp636Cys)
c.1119G>T (p.Trp373Cys)
c.2946G>T (p.Trp982Cys)
c.2373G>T (p.Trp791Cys)
c.2298G>T (p.Trp766Cys)
c.975G>T (p.Trp325Cys)
3g.38894797C=CA1358718226SCN11Ac.2571G= (p.Trp857=)
c.2391G= (p.Trp797=)
c.2615G= (n.2615G=)
c.2190G= (p.Trp730=)
c.1908G= (p.Trp636=)
c.1119G= (p.Trp373=)
c.2946G= (p.Trp982=)
c.2373G= (p.Trp791=)
c.2298G= (p.Trp766=)
c.975G= (p.Trp325=)
3g.38894797C>GCA352174853SCN11Ac.2571G>C (p.Trp857Cys)
c.2391G>C (p.Trp797Cys)
c.2615G>C (n.2615G>C)
c.2190G>C (p.Trp730Cys)
c.1908G>C (p.Trp636Cys)
c.1119G>C (p.Trp373Cys)
c.2946G>C (p.Trp982Cys)
c.2373G>C (p.Trp791Cys)
c.2298G>C (p.Trp766Cys)
c.975G>C (p.Trp325Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38894797C>TCA352174854SCN11Ac.2571G>A (p.Trp857Ter)
c.2391G>A (p.Trp797Ter)
c.2615G>A (n.2615G>A)
c.2190G>A (p.Trp730Ter)
c.1908G>A (p.Trp636Ter)
c.1119G>A (p.Trp373Ter)
c.2946G>A (p.Trp982Ter)
c.2373G>A (p.Trp791Ter)
c.2298G>A (p.Trp766Ter)
c.975G>A (p.Trp325Ter)
 dbSNP
3g.38894798C>ACA352174857SCN11Ac.2570G>T (p.Trp857Leu)
c.2390G>T (p.Trp797Leu)
c.2614G>T (n.2614G>T)
c.2189G>T (p.Trp730Leu)
c.1907G>T (p.Trp636Leu)
c.1118G>T (p.Trp373Leu)
c.2945G>T (p.Trp982Leu)
c.2372G>T (p.Trp791Leu)
c.2297G>T (p.Trp766Leu)
c.974G>T (p.Trp325Leu)
3g.38894798C>GCA352174855SCN11Ac.2570G>C (p.Trp857Ser)
c.2390G>C (p.Trp797Ser)
c.2614G>C (n.2614G>C)
c.2189G>C (p.Trp730Ser)
c.1907G>C (p.Trp636Ser)
c.1118G>C (p.Trp373Ser)
c.2945G>C (p.Trp982Ser)
c.2372G>C (p.Trp791Ser)
c.2297G>C (p.Trp766Ser)
c.974G>C (p.Trp325Ser)
3g.38894798C>TCA352174856SCN11Ac.2570G>A (p.Trp857Ter)
c.2390G>A (p.Trp797Ter)
c.2614G>A (n.2614G>A)
c.2189G>A (p.Trp730Ter)
c.1907G>A (p.Trp636Ter)
c.1118G>A (p.Trp373Ter)
c.2945G>A (p.Trp982Ter)
c.2372G>A (p.Trp791Ter)
c.2297G>A (p.Trp766Ter)
c.974G>A (p.Trp325Ter)
 gnomAD v4
3g.38894799A>CCA352174858SCN11Ac.2569T>G (p.Trp857Gly)
c.2389T>G (p.Trp797Gly)
c.2613T>G (n.2613T>G)
c.2188T>G (p.Trp730Gly)
c.1906T>G (p.Trp636Gly)
c.1117T>G (p.Trp373Gly)
c.2944T>G (p.Trp982Gly)
c.2371T>G (p.Trp791Gly)
c.2296T>G (p.Trp766Gly)
c.973T>G (p.Trp325Gly)
3g.38894799A>GCA352174859SCN11Ac.2569T>C (p.Trp857Arg)
c.2389T>C (p.Trp797Arg)
c.2613T>C (n.2613T>C)
c.2188T>C (p.Trp730Arg)
c.1906T>C (p.Trp636Arg)
c.1117T>C (p.Trp373Arg)
c.2944T>C (p.Trp982Arg)
c.2371T>C (p.Trp791Arg)
c.2296T>C (p.Trp766Arg)
c.973T>C (p.Trp325Arg)
3g.38894799A>TCA352174860SCN11Ac.2569T>A (p.Trp857Arg)
c.2389T>A (p.Trp797Arg)
c.2613T>A (n.2613T>A)
c.2188T>A (p.Trp730Arg)
c.1906T>A (p.Trp636Arg)
c.1117T>A (p.Trp373Arg)
c.2944T>A (p.Trp982Arg)
c.2371T>A (p.Trp791Arg)
c.2296T>A (p.Trp766Arg)
c.973T>A (p.Trp325Arg)
3g.38894800C>ACA352174861SCN11Ac.2568G>T (p.Lys856Asn)
c.2388G>T (p.Lys796Asn)
c.2612G>T (n.2612G>T)
c.2187G>T (p.Lys729Asn)
c.1905G>T (p.Lys635Asn)
c.1116G>T (p.Lys372Asn)
c.2943G>T (p.Lys981Asn)
c.2370G>T (p.Lys790Asn)
c.2295G>T (p.Lys765Asn)
c.972G>T (p.Lys324Asn)
3g.38894800C=CA1358718227SCN11Ac.2568G= (p.Lys856=)
c.2388G= (p.Lys796=)
c.2612G= (n.2612G=)
c.2187G= (p.Lys729=)
c.1905G= (p.Lys635=)
c.1116G= (p.Lys372=)
c.2943G= (p.Lys981=)
c.2370G= (p.Lys790=)
c.2295G= (p.Lys765=)
c.972G= (p.Lys324=)
3g.38894800C>GCA352174862SCN11Ac.2568G>C (p.Lys856Asn)
c.2388G>C (p.Lys796Asn)
c.2612G>C (n.2612G>C)
c.2187G>C (p.Lys729Asn)
c.1905G>C (p.Lys635Asn)
c.1116G>C (p.Lys372Asn)
c.2943G>C (p.Lys981Asn)
c.2370G>C (p.Lys790Asn)
c.2295G>C (p.Lys765Asn)
c.972G>C (p.Lys324Asn)
3g.38894800C>TCA433336125SCN11Ac.2568G>A (p.Lys856=)
c.2388G>A (p.Lys796=)
c.2612G>A (n.2612G>A)
c.2187G>A (p.Lys729=)
c.1905G>A (p.Lys635=)
c.1116G>A (p.Lys372=)
c.2943G>A (p.Lys981=)
c.2370G>A (p.Lys790=)
c.2295G>A (p.Lys765=)
c.972G>A (p.Lys324=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894801T>ACA352174863SCN11Ac.2567A>T (p.Lys856Met)
c.2387A>T (p.Lys796Met)
c.2611A>T (n.2611A>T)
c.2186A>T (p.Lys729Met)
c.1904A>T (p.Lys635Met)
c.1115A>T (p.Lys372Met)
c.2942A>T (p.Lys981Met)
c.2369A>T (p.Lys790Met)
c.2294A>T (p.Lys765Met)
c.971A>T (p.Lys324Met)
3g.38894801T>CCA352174864SCN11Ac.2567A>G (p.Lys856Arg)
c.2387A>G (p.Lys796Arg)
c.2611A>G (n.2611A>G)
c.2186A>G (p.Lys729Arg)
c.1904A>G (p.Lys635Arg)
c.1115A>G (p.Lys372Arg)
c.2942A>G (p.Lys981Arg)
c.2369A>G (p.Lys790Arg)
c.2294A>G (p.Lys765Arg)
c.971A>G (p.Lys324Arg)
3g.38894801T>GCA352174865SCN11Ac.2567A>C (p.Lys856Thr)
c.2387A>C (p.Lys796Thr)
c.2611A>C (n.2611A>C)
c.2186A>C (p.Lys729Thr)
c.1904A>C (p.Lys635Thr)
c.1115A>C (p.Lys372Thr)
c.2942A>C (p.Lys981Thr)
c.2369A>C (p.Lys790Thr)
c.2294A>C (p.Lys765Thr)
c.971A>C (p.Lys324Thr)
3g.38894802T>ACA352174866SCN11Ac.2566A>T (p.Lys856Ter)
c.2386A>T (p.Lys796Ter)
c.2610A>T (n.2610A>T)
c.2185A>T (p.Lys729Ter)
c.1903A>T (p.Lys635Ter)
c.1114A>T (p.Lys372Ter)
c.2941A>T (p.Lys981Ter)
c.2368A>T (p.Lys790Ter)
c.2293A>T (p.Lys765Ter)
c.970A>T (p.Lys324Ter)
 dbSNP
3g.38894802T>CCA352174867SCN11Ac.2566A>G (p.Lys856Glu)
c.2386A>G (p.Lys796Glu)
c.2610A>G (n.2610A>G)
c.2185A>G (p.Lys729Glu)
c.1903A>G (p.Lys635Glu)
c.1114A>G (p.Lys372Glu)
c.2941A>G (p.Lys981Glu)
c.2368A>G (p.Lys790Glu)
c.2293A>G (p.Lys765Glu)
c.970A>G (p.Lys324Glu)
3g.38894802T>GCA352174868SCN11Ac.2566A>C (p.Lys856Gln)
c.2386A>C (p.Lys796Gln)
c.2610A>C (n.2610A>C)
c.2185A>C (p.Lys729Gln)
c.1903A>C (p.Lys635Gln)
c.1114A>C (p.Lys372Gln)
c.2941A>C (p.Lys981Gln)
c.2368A>C (p.Lys790Gln)
c.2293A>C (p.Lys765Gln)
c.970A>C (p.Lys324Gln)
3g.38894802T=CA1358718228SCN11Ac.2566A= (p.Lys856=)
c.2386A= (p.Lys796=)
c.2610A= (n.2610A=)
c.2185A= (p.Lys729=)
c.1903A= (p.Lys635=)
c.1114A= (p.Lys372=)
c.2941A= (p.Lys981=)
c.2368A= (p.Lys790=)
c.2293A= (p.Lys765=)
c.970A= (p.Lys324=)
3g.38894803G>ACA433336126SCN11Ac.2565C>T (p.His855=)
c.2385C>T (p.His795=)
c.2609C>T (n.2609C>T)
c.2184C>T (p.His728=)
c.1902C>T (p.His634=)
c.1113C>T (p.His371=)
c.2940C>T (p.His980=)
c.2367C>T (p.His789=)
c.2292C>T (p.His764=)
c.969C>T (p.His323=)
3g.38894803G>CCA352174869SCN11Ac.2565C>G (p.His855Gln)
c.2385C>G (p.His795Gln)
c.2609C>G (n.2609C>G)
c.2184C>G (p.His728Gln)
c.1902C>G (p.His634Gln)
c.1113C>G (p.His371Gln)
c.2940C>G (p.His980Gln)
c.2367C>G (p.His789Gln)
c.2292C>G (p.His764Gln)
c.969C>G (p.His323Gln)
3g.38894803G>TCA352174870SCN11Ac.2565C>A (p.His855Gln)
c.2385C>A (p.His795Gln)
c.2609C>A (n.2609C>A)
c.2184C>A (p.His728Gln)
c.1902C>A (p.His634Gln)
c.1113C>A (p.His371Gln)
c.2940C>A (p.His980Gln)
c.2367C>A (p.His789Gln)
c.2292C>A (p.His764Gln)
c.969C>A (p.His323Gln)
3g.38894804T>ACA352174871SCN11Ac.2564A>T (p.His855Leu)
c.2384A>T (p.His795Leu)
c.2608A>T (n.2608A>T)
c.2183A>T (p.His728Leu)
c.1901A>T (p.His634Leu)
c.1112A>T (p.His371Leu)
c.2939A>T (p.His980Leu)
c.2366A>T (p.His789Leu)
c.2291A>T (p.His764Leu)
c.968A>T (p.His323Leu)
3g.38894804T>CCA352174873SCN11Ac.2564A>G (p.His855Arg)
c.2384A>G (p.His795Arg)
c.2608A>G (n.2608A>G)
c.2183A>G (p.His728Arg)
c.1901A>G (p.His634Arg)
c.1112A>G (p.His371Arg)
c.2939A>G (p.His980Arg)
c.2366A>G (p.His789Arg)
c.2291A>G (p.His764Arg)
c.968A>G (p.His323Arg)
3g.38894804T>GCA352174872SCN11Ac.2564A>C (p.His855Pro)
c.2384A>C (p.His795Pro)
c.2608A>C (n.2608A>C)
c.2183A>C (p.His728Pro)
c.1901A>C (p.His634Pro)
c.1112A>C (p.His371Pro)
c.2939A>C (p.His980Pro)
c.2366A>C (p.His789Pro)
c.2291A>C (p.His764Pro)
c.968A>C (p.His323Pro)
3g.38894805G>ACA352174874SCN11Ac.2563C>T (p.His855Tyr)
c.2383C>T (p.His795Tyr)
c.2607C>T (n.2607C>T)
c.2182C>T (p.His728Tyr)
c.1900C>T (p.His634Tyr)
c.1111C>T (p.His371Tyr)
c.2938C>T (p.His980Tyr)
c.2365C>T (p.His789Tyr)
c.2290C>T (p.His764Tyr)
c.967C>T (p.His323Tyr)
3g.38894805G>CCA352174875SCN11Ac.2563C>G (p.His855Asp)
c.2383C>G (p.His795Asp)
c.2607C>G (n.2607C>G)
c.2182C>G (p.His728Asp)
c.1900C>G (p.His634Asp)
c.1111C>G (p.His371Asp)
c.2938C>G (p.His980Asp)
c.2365C>G (p.His789Asp)
c.2290C>G (p.His764Asp)
c.967C>G (p.His323Asp)
3g.38894805G>TCA352174876SCN11Ac.2563C>A (p.His855Asn)
c.2383C>A (p.His795Asn)
c.2607C>A (n.2607C>A)
c.2182C>A (p.His728Asn)
c.1900C>A (p.His634Asn)
c.1111C>A (p.His371Asn)
c.2938C>A (p.His980Asn)
c.2365C>A (p.His789Asn)
c.2290C>A (p.His764Asn)
c.967C>A (p.His323Asn)
3g.38894806A=CA1358718229SCN11Ac.2562T= (p.Cys854=)
c.2382T= (p.Cys794=)
c.2606T= (n.2606T=)
c.2181T= (p.Cys727=)
c.1899T= (p.Cys633=)
c.1110T= (p.Cys370=)
c.2937T= (p.Cys979=)
c.2364T= (p.Cys788=)
c.2289T= (p.Cys763=)
c.966T= (p.Cys322=)
3g.38894806A>CCA352174877SCN11Ac.2562T>G (p.Cys854Trp)
c.2382T>G (p.Cys794Trp)
c.2606T>G (n.2606T>G)
c.2181T>G (p.Cys727Trp)
c.1899T>G (p.Cys633Trp)
c.1110T>G (p.Cys370Trp)
c.2937T>G (p.Cys979Trp)
c.2364T>G (p.Cys788Trp)
c.2289T>G (p.Cys763Trp)
c.966T>G (p.Cys322Trp)
3g.38894806A>GCA433336127SCN11Ac.2562T>C (p.Cys854=)
c.2382T>C (p.Cys794=)
c.2606T>C (n.2606T>C)
c.2181T>C (p.Cys727=)
c.1899T>C (p.Cys633=)
c.1110T>C (p.Cys370=)
c.2937T>C (p.Cys979=)
c.2364T>C (p.Cys788=)
c.2289T>C (p.Cys763=)
c.966T>C (p.Cys322=)
3g.38894806A>TCA352174878SCN11Ac.2562T>A (p.Cys854Ter)
c.2382T>A (p.Cys794Ter)
c.2606T>A (n.2606T>A)
c.2181T>A (p.Cys727Ter)
c.1899T>A (p.Cys633Ter)
c.1110T>A (p.Cys370Ter)
c.2937T>A (p.Cys979Ter)
c.2364T>A (p.Cys788Ter)
c.2289T>A (p.Cys763Ter)
c.966T>A (p.Cys322Ter)
 dbSNP
3g.38894807C>ACA352174879SCN11Ac.2561G>T (p.Cys854Phe)
c.2381G>T (p.Cys794Phe)
c.2605G>T (n.2605G>T)
c.2180G>T (p.Cys727Phe)
c.1898G>T (p.Cys633Phe)
c.1109G>T (p.Cys370Phe)
c.2936G>T (p.Cys979Phe)
c.2363G>T (p.Cys788Phe)
c.2288G>T (p.Cys763Phe)
c.965G>T (p.Cys322Phe)
3g.38894807C>GCA352174880SCN11Ac.2561G>C (p.Cys854Ser)
c.2381G>C (p.Cys794Ser)
c.2605G>C (n.2605G>C)
c.2180G>C (p.Cys727Ser)
c.1898G>C (p.Cys633Ser)
c.1109G>C (p.Cys370Ser)
c.2936G>C (p.Cys979Ser)
c.2363G>C (p.Cys788Ser)
c.2288G>C (p.Cys763Ser)
c.965G>C (p.Cys322Ser)
3g.38894807C>TCA352174881SCN11Ac.2561G>A (p.Cys854Tyr)
c.2381G>A (p.Cys794Tyr)
c.2605G>A (n.2605G>A)
c.2180G>A (p.Cys727Tyr)
c.1898G>A (p.Cys633Tyr)
c.1109G>A (p.Cys370Tyr)
c.2936G>A (p.Cys979Tyr)
c.2363G>A (p.Cys788Tyr)
c.2288G>A (p.Cys763Tyr)
c.965G>A (p.Cys322Tyr)
3g.38894808A>CCA352174882SCN11Ac.2560T>G (p.Cys854Gly)
c.2380T>G (p.Cys794Gly)
c.2604T>G (n.2604T>G)
c.2179T>G (p.Cys727Gly)
c.1897T>G (p.Cys633Gly)
c.1108T>G (p.Cys370Gly)
c.2935T>G (p.Cys979Gly)
c.2362T>G (p.Cys788Gly)
c.2287T>G (p.Cys763Gly)
c.964T>G (p.Cys322Gly)
3g.38894808A>GCA352174883SCN11Ac.2560T>C (p.Cys854Arg)
c.2380T>C (p.Cys794Arg)
c.2604T>C (n.2604T>C)
c.2179T>C (p.Cys727Arg)
c.1897T>C (p.Cys633Arg)
c.1108T>C (p.Cys370Arg)
c.2935T>C (p.Cys979Arg)
c.2362T>C (p.Cys788Arg)
c.2287T>C (p.Cys763Arg)
c.964T>C (p.Cys322Arg)
3g.38894808A>TCA352174884SCN11Ac.2560T>A (p.Cys854Ser)
c.2380T>A (p.Cys794Ser)
c.2604T>A (n.2604T>A)
c.2179T>A (p.Cys727Ser)
c.1897T>A (p.Cys633Ser)
c.1108T>A (p.Cys370Ser)
c.2935T>A (p.Cys979Ser)
c.2362T>A (p.Cys788Ser)
c.2287T>A (p.Cys763Ser)
c.964T>A (p.Cys322Ser)
3g.38894809G>ACA433336128SCN11Ac.2559C>T (p.Phe853=)
c.2379C>T (p.Phe793=)
c.2603C>T (n.2603C>T)
c.2178C>T (p.Phe726=)
c.1896C>T (p.Phe632=)
c.1107C>T (p.Phe369=)
c.2934C>T (p.Phe978=)
c.2361C>T (p.Phe787=)
c.2286C>T (p.Phe762=)
c.963C>T (p.Phe321=)
 gnomAD v4
3g.38894809G>CCA352174885SCN11Ac.2559C>G (p.Phe853Leu)
c.2379C>G (p.Phe793Leu)
c.2603C>G (n.2603C>G)
c.2178C>G (p.Phe726Leu)
c.1896C>G (p.Phe632Leu)
c.1107C>G (p.Phe369Leu)
c.2934C>G (p.Phe978Leu)
c.2361C>G (p.Phe787Leu)
c.2286C>G (p.Phe762Leu)
c.963C>G (p.Phe321Leu)
3g.38894809G>TCA352174886SCN11Ac.2559C>A (p.Phe853Leu)
c.2379C>A (p.Phe793Leu)
c.2603C>A (n.2603C>A)
c.2178C>A (p.Phe726Leu)
c.1896C>A (p.Phe632Leu)
c.1107C>A (p.Phe369Leu)
c.2934C>A (p.Phe978Leu)
c.2361C>A (p.Phe787Leu)
c.2286C>A (p.Phe762Leu)
c.963C>A (p.Phe321Leu)
3g.38894810A=CA1358718230SCN11Ac.2558T= (p.Phe853=)
c.2378T= (p.Phe793=)
c.2602T= (n.2602T=)
c.2177T= (p.Phe726=)
c.1895T= (p.Phe632=)
c.1106T= (p.Phe369=)
c.2933T= (p.Phe978=)
c.2360T= (p.Phe787=)
c.2285T= (p.Phe762=)
c.962T= (p.Phe321=)
3g.38894810A>CCA352174887SCN11Ac.2558T>G (p.Phe853Cys)
c.2378T>G (p.Phe793Cys)
c.2602T>G (n.2602T>G)
c.2177T>G (p.Phe726Cys)
c.1895T>G (p.Phe632Cys)
c.1106T>G (p.Phe369Cys)
c.2933T>G (p.Phe978Cys)
c.2360T>G (p.Phe787Cys)
c.2285T>G (p.Phe762Cys)
c.962T>G (p.Phe321Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894810A>GCA352174889SCN11Ac.2558T>C (p.Phe853Ser)
c.2378T>C (p.Phe793Ser)
c.2602T>C (n.2602T>C)
c.2177T>C (p.Phe726Ser)
c.1895T>C (p.Phe632Ser)
c.1106T>C (p.Phe369Ser)
c.2933T>C (p.Phe978Ser)
c.2360T>C (p.Phe787Ser)
c.2285T>C (p.Phe762Ser)
c.962T>C (p.Phe321Ser)
3g.38894810A>TCA352174888SCN11Ac.2558T>A (p.Phe853Tyr)
c.2378T>A (p.Phe793Tyr)
c.2602T>A (n.2602T>A)
c.2177T>A (p.Phe726Tyr)
c.1895T>A (p.Phe632Tyr)
c.1106T>A (p.Phe369Tyr)
c.2933T>A (p.Phe978Tyr)
c.2360T>A (p.Phe787Tyr)
c.2285T>A (p.Phe762Tyr)
c.962T>A (p.Phe321Tyr)
3g.38894811A=CA1358718231SCN11Ac.2557T= (p.Phe853=)
c.2377T= (p.Phe793=)
c.2601T= (n.2601T=)
c.2176T= (p.Phe726=)
c.1894T= (p.Phe632=)
c.1105T= (p.Phe369=)
c.2932T= (p.Phe978=)
c.2359T= (p.Phe787=)
c.2284T= (p.Phe762=)
c.961T= (p.Phe321=)
3g.38894811A>CCA352174890SCN11Ac.2557T>G (p.Phe853Val)
c.2377T>G (p.Phe793Val)
c.2601T>G (n.2601T>G)
c.2176T>G (p.Phe726Val)
c.1894T>G (p.Phe632Val)
c.1105T>G (p.Phe369Val)
c.2932T>G (p.Phe978Val)
c.2359T>G (p.Phe787Val)
c.2284T>G (p.Phe762Val)
c.961T>G (p.Phe321Val)
3g.38894811A>GCA352174891SCN11Ac.2557T>C (p.Phe853Leu)
c.2377T>C (p.Phe793Leu)
c.2601T>C (n.2601T>C)
c.2176T>C (p.Phe726Leu)
c.1894T>C (p.Phe632Leu)
c.1105T>C (p.Phe369Leu)
c.2932T>C (p.Phe978Leu)
c.2359T>C (p.Phe787Leu)
c.2284T>C (p.Phe762Leu)
c.961T>C (p.Phe321Leu)
 dbSNP
3g.38894811A>TCA352174892SCN11Ac.2557T>A (p.Phe853Ile)
c.2377T>A (p.Phe793Ile)
c.2601T>A (n.2601T>A)
c.2176T>A (p.Phe726Ile)
c.1894T>A (p.Phe632Ile)
c.1105T>A (p.Phe369Ile)
c.2932T>A (p.Phe978Ile)
c.2359T>A (p.Phe787Ile)
c.2284T>A (p.Phe762Ile)
c.961T>A (p.Phe321Ile)
3g.38894812A>CCA352174893SCN11Ac.2556T>G (p.His852Gln)
c.2376T>G (p.His792Gln)
c.2600T>G (n.2600T>G)
c.2175T>G (p.His725Gln)
c.1893T>G (p.His631Gln)
c.1104T>G (p.His368Gln)
c.2931T>G (p.His977Gln)
c.2358T>G (p.His786Gln)
c.2283T>G (p.His761Gln)
c.960T>G (p.His320Gln)
3g.38894812A>GCA433336129SCN11Ac.2556T>C (p.His852=)
c.2376T>C (p.His792=)
c.2600T>C (n.2600T>C)
c.2175T>C (p.His725=)
c.1893T>C (p.His631=)
c.1104T>C (p.His368=)
c.2931T>C (p.His977=)
c.2358T>C (p.His786=)
c.2283T>C (p.His761=)
c.960T>C (p.His320=)
3g.38894812A>TCA352174894SCN11Ac.2556T>A (p.His852Gln)
c.2376T>A (p.His792Gln)
c.2600T>A (n.2600T>A)
c.2175T>A (p.His725Gln)
c.1893T>A (p.His631Gln)
c.1104T>A (p.His368Gln)
c.2931T>A (p.His977Gln)
c.2358T>A (p.His786Gln)
c.2283T>A (p.His761Gln)
c.960T>A (p.His320Gln)
3g.38894813T>ACA352174895SCN11Ac.2555A>T (p.His852Leu)
c.2375A>T (p.His792Leu)
c.2599A>T (n.2599A>T)
c.2174A>T (p.His725Leu)
c.1892A>T (p.His631Leu)
c.1103A>T (p.His368Leu)
c.2930A>T (p.His977Leu)
c.2357A>T (p.His786Leu)
c.2282A>T (p.His761Leu)
c.959A>T (p.His320Leu)
3g.38894813T>CCA352174896SCN11Ac.2555A>G (p.His852Arg)
c.2375A>G (p.His792Arg)
c.2599A>G (n.2599A>G)
c.2174A>G (p.His725Arg)
c.1892A>G (p.His631Arg)
c.1103A>G (p.His368Arg)
c.2930A>G (p.His977Arg)
c.2357A>G (p.His786Arg)
c.2282A>G (p.His761Arg)
c.959A>G (p.His320Arg)
3g.38894813T>GCA352174897SCN11Ac.2555A>C (p.His852Pro)
c.2375A>C (p.His792Pro)
c.2599A>C (n.2599A>C)
c.2174A>C (p.His725Pro)
c.1892A>C (p.His631Pro)
c.1103A>C (p.His368Pro)
c.2930A>C (p.His977Pro)
c.2357A>C (p.His786Pro)
c.2282A>C (p.His761Pro)
c.959A>C (p.His320Pro)
3g.38894814G>ACA352174898SCN11Ac.2554C>T (p.His852Tyr)
c.2374C>T (p.His792Tyr)
c.2598C>T (n.2598C>T)
c.2173C>T (p.His725Tyr)
c.1891C>T (p.His631Tyr)
c.1102C>T (p.His368Tyr)
c.2929C>T (p.His977Tyr)
c.2356C>T (p.His786Tyr)
c.2281C>T (p.His761Tyr)
c.958C>T (p.His320Tyr)
 gnomAD v4
3g.38894814G>CCA352174899SCN11Ac.2554C>G (p.His852Asp)
c.2374C>G (p.His792Asp)
c.2598C>G (n.2598C>G)
c.2173C>G (p.His725Asp)
c.1891C>G (p.His631Asp)
c.1102C>G (p.His368Asp)
c.2929C>G (p.His977Asp)
c.2356C>G (p.His786Asp)
c.2281C>G (p.His761Asp)
c.958C>G (p.His320Asp)
3g.38894814G>TCA352174900SCN11Ac.2554C>A (p.His852Asn)
c.2374C>A (p.His792Asn)
c.2598C>A (n.2598C>A)
c.2173C>A (p.His725Asn)
c.1891C>A (p.His631Asn)
c.1102C>A (p.His368Asn)
c.2929C>A (p.His977Asn)
c.2356C>A (p.His786Asn)
c.2281C>A (p.His761Asn)
c.958C>A (p.His320Asn)
3g.38894815C>ACA352174902SCN11Ac.2553G>T (p.Glu851Asp)
c.2373G>T (p.Glu791Asp)
c.2597G>T (n.2597G>T)
c.2172G>T (p.Glu724Asp)
c.1890G>T (p.Glu630Asp)
c.1101G>T (p.Glu367Asp)
c.2928G>T (p.Glu976Asp)
c.2355G>T (p.Glu785Asp)
c.2280G>T (p.Glu760Asp)
c.957G>T (p.Glu319Asp)
3g.38894815C=CA1358718232SCN11Ac.2553G= (p.Glu851=)
c.2373G= (p.Glu791=)
c.2597G= (n.2597G=)
c.2172G= (p.Glu724=)
c.1890G= (p.Glu630=)
c.1101G= (p.Glu367=)
c.2928G= (p.Glu976=)
c.2355G= (p.Glu785=)
c.2280G= (p.Glu760=)
c.957G= (p.Glu319=)
3g.38894815C>GCA352174901SCN11Ac.2553G>C (p.Glu851Asp)
c.2373G>C (p.Glu791Asp)
c.2597G>C (n.2597G>C)
c.2172G>C (p.Glu724Asp)
c.1890G>C (p.Glu630Asp)
c.1101G>C (p.Glu367Asp)
c.2928G>C (p.Glu976Asp)
c.2355G>C (p.Glu785Asp)
c.2280G>C (p.Glu760Asp)
c.957G>C (p.Glu319Asp)
3g.38894815C>TCA433336130SCN11Ac.2553G>A (p.Glu851=)
c.2373G>A (p.Glu791=)
c.2597G>A (n.2597G>A)
c.2172G>A (p.Glu724=)
c.1890G>A (p.Glu630=)
c.1101G>A (p.Glu367=)
c.2928G>A (p.Glu976=)
c.2355G>A (p.Glu785=)
c.2280G>A (p.Glu760=)
c.957G>A (p.Glu319=)
 dbSNP
3g.38894816T>ACA352174903SCN11Ac.2552A>T (p.Glu851Val)
c.2372A>T (p.Glu791Val)
c.2596A>T (n.2596A>T)
c.2171A>T (p.Glu724Val)
c.1889A>T (p.Glu630Val)
c.1100A>T (p.Glu367Val)
c.2927A>T (p.Glu976Val)
c.2354A>T (p.Glu785Val)
c.2279A>T (p.Glu760Val)
c.956A>T (p.Glu319Val)
3g.38894816T>CCA352174905SCN11Ac.2552A>G (p.Glu851Gly)
c.2372A>G (p.Glu791Gly)
c.2596A>G (n.2596A>G)
c.2171A>G (p.Glu724Gly)
c.1889A>G (p.Glu630Gly)
c.1100A>G (p.Glu367Gly)
c.2927A>G (p.Glu976Gly)
c.2354A>G (p.Glu785Gly)
c.2279A>G (p.Glu760Gly)
c.956A>G (p.Glu319Gly)
3g.38894816T>GCA352174904SCN11Ac.2552A>C (p.Glu851Ala)
c.2372A>C (p.Glu791Ala)
c.2596A>C (n.2596A>C)
c.2171A>C (p.Glu724Ala)
c.1889A>C (p.Glu630Ala)
c.1100A>C (p.Glu367Ala)
c.2927A>C (p.Glu976Ala)
c.2354A>C (p.Glu785Ala)
c.2279A>C (p.Glu760Ala)
c.956A>C (p.Glu319Ala)
3g.38894817C>ACA352174906SCN11Ac.2551G>T (p.Glu851Ter)
c.2371G>T (p.Glu791Ter)
c.2595G>T (n.2595G>T)
c.2170G>T (p.Glu724Ter)
c.1888G>T (p.Glu630Ter)
c.1099G>T (p.Glu367Ter)
c.2926G>T (p.Glu976Ter)
c.2353G>T (p.Glu785Ter)
c.2278G>T (p.Glu760Ter)
c.955G>T (p.Glu319Ter)
 dbSNP
3g.38894817C=CA1358718234SCN11Ac.2551G= (p.Glu851=)
c.2371G= (p.Glu791=)
c.2595G= (n.2595G=)
c.2170G= (p.Glu724=)
c.1888G= (p.Glu630=)
c.1099G= (p.Glu367=)
c.2926G= (p.Glu976=)
c.2353G= (p.Glu785=)
c.2278G= (p.Glu760=)
c.955G= (p.Glu319=)
3g.38894817C>GCA352174908SCN11Ac.2551G>C (p.Glu851Gln)
c.2371G>C (p.Glu791Gln)
c.2595G>C (n.2595G>C)
c.2170G>C (p.Glu724Gln)
c.1888G>C (p.Glu630Gln)
c.1099G>C (p.Glu367Gln)
c.2926G>C (p.Glu976Gln)
c.2353G>C (p.Glu785Gln)
c.2278G>C (p.Glu760Gln)
c.955G>C (p.Glu319Gln)
3g.38894817C>TCA352174907SCN11Ac.2551G>A (p.Glu851Lys)
c.2371G>A (p.Glu791Lys)
c.2595G>A (n.2595G>A)
c.2170G>A (p.Glu724Lys)
c.1888G>A (p.Glu630Lys)
c.1099G>A (p.Glu367Lys)
c.2926G>A (p.Glu976Lys)
c.2353G>A (p.Glu785Lys)
c.2278G>A (p.Glu760Lys)
c.955G>A (p.Glu319Lys)
 COSMIC
3g.38894817_38894819delinsCAACA1358718233SCN11Ac.2549_2551delinsTTG (p.Leu850=)
c.2369_2371delinsTTG (p.Leu790=)
c.2593_2595delinsTTG (n.2593_2595delinsTTG)
c.2168_2170delinsTTG (p.Leu723=)
c.1886_1888delinsTTG (p.Leu629=)
c.1097_1099delinsTTG (p.Leu366=)
c.2924_2926delinsTTG (p.Leu975=)
c.2351_2353delinsTTG (p.Leu784=)
c.2276_2278delinsTTG (p.Leu759=)
c.953_955delinsTTG (p.Leu318=)
3g.38894818A=CA1358718236SCN11Ac.2550T= (p.Leu850=)
c.2370T= (p.Leu790=)
c.2594T= (n.2594T=)
c.2169T= (p.Leu723=)
c.1887T= (p.Leu629=)
c.1098T= (p.Leu366=)
c.2925T= (p.Leu975=)
c.2352T= (p.Leu784=)
c.2277T= (p.Leu759=)
c.954T= (p.Leu318=)
3g.38894818A>CCA433336133SCN11Ac.2550T>G (p.Leu850=)
c.2370T>G (p.Leu790=)
c.2594T>G (n.2594T>G)
c.2169T>G (p.Leu723=)
c.1887T>G (p.Leu629=)
c.1098T>G (p.Leu366=)
c.2925T>G (p.Leu975=)
c.2352T>G (p.Leu784=)
c.2277T>G (p.Leu759=)
c.954T>G (p.Leu318=)
 dbSNP
3g.38894818A>GCA433336135SCN11Ac.2550T>C (p.Leu850=)
c.2370T>C (p.Leu790=)
c.2594T>C (n.2594T>C)
c.2169T>C (p.Leu723=)
c.1887T>C (p.Leu629=)
c.1098T>C (p.Leu366=)
c.2925T>C (p.Leu975=)
c.2352T>C (p.Leu784=)
c.2277T>C (p.Leu759=)
c.954T>C (p.Leu318=)
 COSMIC
3g.38894818A>TCA433336134SCN11Ac.2550T>A (p.Leu850=)
c.2370T>A (p.Leu790=)
c.2594T>A (n.2594T>A)
c.2169T>A (p.Leu723=)
c.1887T>A (p.Leu629=)
c.1098T>A (p.Leu366=)
c.2925T>A (p.Leu975=)
c.2352T>A (p.Leu784=)
c.2277T>A (p.Leu759=)
c.954T>A (p.Leu318=)
3g.38894818_38894819delCA1358718235SCN11Ac.2549_2550del (p.Leu850ArgfsTer?)
c.2369_2370del (p.Leu790ArgfsTer?)
c.2593_2594del (n.2593_2594del)
c.2168_2169del (p.Leu723ArgfsTer?)
c.1886_1887del (p.Leu629ArgfsTer?)
c.1097_1098del (p.Leu366ArgfsTer?)
c.2924_2925del (p.Leu975ArgfsTer?)
c.2351_2352del (p.Leu784ArgfsTer?)
c.2276_2277del (p.Leu759ArgfsTer?)
c.953_954del (p.Leu318ArgfsTer?)
 dbSNP gnomAD v4
3g.38894819A=CA1358718237SCN11Ac.2549T= (p.Leu850=)
c.2369T= (p.Leu790=)
c.2593T= (n.2593T=)
c.2168T= (p.Leu723=)
c.1886T= (p.Leu629=)
c.1097T= (p.Leu366=)
c.2924T= (p.Leu975=)
c.2351T= (p.Leu784=)
c.2276T= (p.Leu759=)
c.953T= (p.Leu318=)
3g.38894819A>CCA352174909SCN11Ac.2549T>G (p.Leu850Arg)
c.2369T>G (p.Leu790Arg)
c.2593T>G (n.2593T>G)
c.2168T>G (p.Leu723Arg)
c.1886T>G (p.Leu629Arg)
c.1097T>G (p.Leu366Arg)
c.2924T>G (p.Leu975Arg)
c.2351T>G (p.Leu784Arg)
c.2276T>G (p.Leu759Arg)
c.953T>G (p.Leu318Arg)
3g.38894819A>GCA2322014SCN11Ac.2549T>C (p.Leu850Pro)
c.2369T>C (p.Leu790Pro)
c.2593T>C (n.2593T>C)
c.2168T>C (p.Leu723Pro)
c.1886T>C (p.Leu629Pro)
c.1097T>C (p.Leu366Pro)
c.2924T>C (p.Leu975Pro)
c.2351T>C (p.Leu784Pro)
c.2276T>C (p.Leu759Pro)
c.953T>C (p.Leu318Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894819A>TCA352174910SCN11Ac.2549T>A (p.Leu850His)
c.2369T>A (p.Leu790His)
c.2593T>A (n.2593T>A)
c.2168T>A (p.Leu723His)
c.1886T>A (p.Leu629His)
c.1097T>A (p.Leu366His)
c.2924T>A (p.Leu975His)
c.2351T>A (p.Leu784His)
c.2276T>A (p.Leu759His)
c.953T>A (p.Leu318His)
3g.38894820G>ACA352174911SCN11Ac.2548C>T (p.Leu850Phe)
c.2368C>T (p.Leu790Phe)
c.2592C>T (n.2592C>T)
c.2167C>T (p.Leu723Phe)
c.1885C>T (p.Leu629Phe)
c.1096C>T (p.Leu366Phe)
c.2923C>T (p.Leu975Phe)
c.2350C>T (p.Leu784Phe)
c.2275C>T (p.Leu759Phe)
c.952C>T (p.Leu318Phe)
3g.38894820G>CCA352174912SCN11Ac.2548C>G (p.Leu850Val)
c.2368C>G (p.Leu790Val)
c.2592C>G (n.2592C>G)
c.2167C>G (p.Leu723Val)
c.1885C>G (p.Leu629Val)
c.1096C>G (p.Leu366Val)
c.2923C>G (p.Leu975Val)
c.2350C>G (p.Leu784Val)
c.2275C>G (p.Leu759Val)
c.952C>G (p.Leu318Val)
3g.38894820G>TCA352174913SCN11Ac.2548C>A (p.Leu850Ile)
c.2368C>A (p.Leu790Ile)
c.2592C>A (n.2592C>A)
c.2167C>A (p.Leu723Ile)
c.1885C>A (p.Leu629Ile)
c.1096C>A (p.Leu366Ile)
c.2923C>A (p.Leu975Ile)
c.2350C>A (p.Leu784Ile)
c.2275C>A (p.Leu759Ile)
c.952C>A (p.Leu318Ile)
3g.38894821A>CCA433336137SCN11Ac.2547T>G (p.Thr849=)
c.2367T>G (p.Thr789=)
c.2591T>G (n.2591T>G)
c.2166T>G (p.Thr722=)
c.1884T>G (p.Thr628=)
c.1095T>G (p.Thr365=)
c.2922T>G (p.Thr974=)
c.2349T>G (p.Thr783=)
c.2274T>G (p.Thr758=)
c.951T>G (p.Thr317=)
3g.38894821A>GCA433336139SCN11Ac.2547T>C (p.Thr849=)
c.2367T>C (p.Thr789=)
c.2591T>C (n.2591T>C)
c.2166T>C (p.Thr722=)
c.1884T>C (p.Thr628=)
c.1095T>C (p.Thr365=)
c.2922T>C (p.Thr974=)
c.2349T>C (p.Thr783=)
c.2274T>C (p.Thr758=)
c.951T>C (p.Thr317=)
3g.38894821A>TCA433336141SCN11Ac.2547T>A (p.Thr849=)
c.2367T>A (p.Thr789=)
c.2591T>A (n.2591T>A)
c.2166T>A (p.Thr722=)
c.1884T>A (p.Thr628=)
c.1095T>A (p.Thr365=)
c.2922T>A (p.Thr974=)
c.2349T>A (p.Thr783=)
c.2274T>A (p.Thr758=)
c.951T>A (p.Thr317=)
 gnomAD v4
3g.38894822G>ACA352174914SCN11Ac.2546C>T (p.Thr849Ile)
c.2366C>T (p.Thr789Ile)
c.2590C>T (n.2590C>T)
c.2165C>T (p.Thr722Ile)
c.1883C>T (p.Thr628Ile)
c.1094C>T (p.Thr365Ile)
c.2921C>T (p.Thr974Ile)
c.2348C>T (p.Thr783Ile)
c.2273C>T (p.Thr758Ile)
c.950C>T (p.Thr317Ile)
3g.38894822G>CCA2322015SCN11Ac.2546C>G (p.Thr849Ser)
c.2366C>G (p.Thr789Ser)
c.2590C>G (n.2590C>G)
c.2165C>G (p.Thr722Ser)
c.1883C>G (p.Thr628Ser)
c.1094C>G (p.Thr365Ser)
c.2921C>G (p.Thr974Ser)
c.2348C>G (p.Thr783Ser)
c.2273C>G (p.Thr758Ser)
c.950C>G (p.Thr317Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894822G=CA1358718238SCN11Ac.2546C= (p.Thr849=)
c.2366C= (p.Thr789=)
c.2590C= (n.2590C=)
c.2165C= (p.Thr722=)
c.1883C= (p.Thr628=)
c.1094C= (p.Thr365=)
c.2921C= (p.Thr974=)
c.2348C= (p.Thr783=)
c.2273C= (p.Thr758=)
c.950C= (p.Thr317=)
3g.38894822G>TCA352174915SCN11Ac.2546C>A (p.Thr849Asn)
c.2366C>A (p.Thr789Asn)
c.2590C>A (n.2590C>A)
c.2165C>A (p.Thr722Asn)
c.1883C>A (p.Thr628Asn)
c.1094C>A (p.Thr365Asn)
c.2921C>A (p.Thr974Asn)
c.2348C>A (p.Thr783Asn)
c.2273C>A (p.Thr758Asn)
c.950C>A (p.Thr317Asn)
3g.38894823T>ACA352174917SCN11Ac.2545A>T (p.Thr849Ser)
c.2365A>T (p.Thr789Ser)
c.2589A>T (n.2589A>T)
c.2164A>T (p.Thr722Ser)
c.1882A>T (p.Thr628Ser)
c.1093A>T (p.Thr365Ser)
c.2920A>T (p.Thr974Ser)
c.2347A>T (p.Thr783Ser)
c.2272A>T (p.Thr758Ser)
c.949A>T (p.Thr317Ser)
3g.38894823T>CCA72997672SCN11Ac.2545A>G (p.Thr849Ala)
c.2365A>G (p.Thr789Ala)
c.2589A>G (n.2589A>G)
c.2164A>G (p.Thr722Ala)
c.1882A>G (p.Thr628Ala)
c.1093A>G (p.Thr365Ala)
c.2920A>G (p.Thr974Ala)
c.2347A>G (p.Thr783Ala)
c.2272A>G (p.Thr758Ala)
c.949A>G (p.Thr317Ala)
 ClinVar dbSNP gnomAD v4
3g.38894823T>GCA352174916SCN11Ac.2545A>C (p.Thr849Pro)
c.2365A>C (p.Thr789Pro)
c.2589A>C (n.2589A>C)
c.2164A>C (p.Thr722Pro)
c.1882A>C (p.Thr628Pro)
c.1093A>C (p.Thr365Pro)
c.2920A>C (p.Thr974Pro)
c.2347A>C (p.Thr783Pro)
c.2272A>C (p.Thr758Pro)
c.949A>C (p.Thr317Pro)
3g.38894823T=CA1358718239SCN11Ac.2545A= (p.Thr849=)
c.2365A= (p.Thr789=)
c.2589A= (n.2589A=)
c.2164A= (p.Thr722=)
c.1882A= (p.Thr628=)
c.1093A= (p.Thr365=)
c.2920A= (p.Thr974=)
c.2347A= (p.Thr783=)
c.2272A= (p.Thr758=)
c.949A= (p.Thr317=)
3g.38894824G>ACA433336142SCN11Ac.2544C>T (p.His848=)
c.2364C>T (p.His788=)
c.2588C>T (n.2588C>T)
c.2163C>T (p.His721=)
c.1881C>T (p.His627=)
c.1092C>T (p.His364=)
c.2919C>T (p.His973=)
c.2346C>T (p.His782=)
c.2271C>T (p.His757=)
c.948C>T (p.His316=)
3g.38894824G>CCA2322016SCN11Ac.2544C>G (p.His848Gln)
c.2364C>G (p.His788Gln)
c.2588C>G (n.2588C>G)
c.2163C>G (p.His721Gln)
c.1881C>G (p.His627Gln)
c.1092C>G (p.His364Gln)
c.2919C>G (p.His973Gln)
c.2346C>G (p.His782Gln)
c.2271C>G (p.His757Gln)
c.948C>G (p.His316Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894824G=CA1358718240SCN11Ac.2544C= (p.His848=)
c.2364C= (p.His788=)
c.2588C= (n.2588C=)
c.2163C= (p.His721=)
c.1881C= (p.His627=)
c.1092C= (p.His364=)
c.2919C= (p.His973=)
c.2346C= (p.His782=)
c.2271C= (p.His757=)
c.948C= (p.His316=)
3g.38894824G>TCA352174918SCN11Ac.2544C>A (p.His848Gln)
c.2364C>A (p.His788Gln)
c.2588C>A (n.2588C>A)
c.2163C>A (p.His721Gln)
c.1881C>A (p.His627Gln)
c.1092C>A (p.His364Gln)
c.2919C>A (p.His973Gln)
c.2346C>A (p.His782Gln)
c.2271C>A (p.His757Gln)
c.948C>A (p.His316Gln)
3g.38894825T>ACA352174919SCN11Ac.2543A>T (p.His848Leu)
c.2363A>T (p.His788Leu)
c.2587A>T (n.2587A>T)
c.2162A>T (p.His721Leu)
c.1880A>T (p.His627Leu)
c.1091A>T (p.His364Leu)
c.2918A>T (p.His973Leu)
c.2345A>T (p.His782Leu)
c.2270A>T (p.His757Leu)
c.947A>T (p.His316Leu)
3g.38894825T>CCA352174920SCN11Ac.2543A>G (p.His848Arg)
c.2363A>G (p.His788Arg)
c.2587A>G (n.2587A>G)
c.2162A>G (p.His721Arg)
c.1880A>G (p.His627Arg)
c.1091A>G (p.His364Arg)
c.2918A>G (p.His973Arg)
c.2345A>G (p.His782Arg)
c.2270A>G (p.His757Arg)
c.947A>G (p.His316Arg)
 gnomAD v4
3g.38894825T>GCA352174921SCN11Ac.2543A>C (p.His848Pro)
c.2363A>C (p.His788Pro)
c.2587A>C (n.2587A>C)
c.2162A>C (p.His721Pro)
c.1880A>C (p.His627Pro)
c.1091A>C (p.His364Pro)
c.2918A>C (p.His973Pro)
c.2345A>C (p.His782Pro)
c.2270A>C (p.His757Pro)
c.947A>C (p.His316Pro)
3g.38894826G>ACA352174924SCN11Ac.2542C>T (p.His848Tyr)
c.2362C>T (p.His788Tyr)
c.2586C>T (n.2586C>T)
c.2161C>T (p.His721Tyr)
c.1879C>T (p.His627Tyr)
c.1090C>T (p.His364Tyr)
c.2917C>T (p.His973Tyr)
c.2344C>T (p.His782Tyr)
c.2269C>T (p.His757Tyr)
c.946C>T (p.His316Tyr)
3g.38894826G>CCA352174922SCN11Ac.2542C>G (p.His848Asp)
c.2362C>G (p.His788Asp)
c.2586C>G (n.2586C>G)
c.2161C>G (p.His721Asp)
c.1879C>G (p.His627Asp)
c.1090C>G (p.His364Asp)
c.2917C>G (p.His973Asp)
c.2344C>G (p.His782Asp)
c.2269C>G (p.His757Asp)
c.946C>G (p.His316Asp)
3g.38894826G>TCA352174923SCN11Ac.2542C>A (p.His848Asn)
c.2362C>A (p.His788Asn)
c.2586C>A (n.2586C>A)
c.2161C>A (p.His721Asn)
c.1879C>A (p.His627Asn)
c.1090C>A (p.His364Asn)
c.2917C>A (p.His973Asn)
c.2344C>A (p.His782Asn)
c.2269C>A (p.His757Asn)
c.946C>A (p.His316Asn)
3g.38894827T>ACA352174925SCN11Ac.2541A>T (p.Arg847Ser)
c.2361A>T (p.Arg787Ser)
c.2585A>T (n.2585A>T)
c.2160A>T (p.Arg720Ser)
c.1878A>T (p.Arg626Ser)
c.1089A>T (p.Arg363Ser)
c.2916A>T (p.Arg972Ser)
c.2343A>T (p.Arg781Ser)
c.2268A>T (p.Arg756Ser)
c.945A>T (p.Arg315Ser)
3g.38894827T>CCA2322017SCN11Ac.2541A>G (p.Arg847=)
c.2361A>G (p.Arg787=)
c.2585A>G (n.2585A>G)
c.2160A>G (p.Arg720=)
c.1878A>G (p.Arg626=)
c.1089A>G (p.Arg363=)
c.2916A>G (p.Arg972=)
c.2343A>G (p.Arg781=)
c.2268A>G (p.Arg756=)
c.945A>G (p.Arg315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894827T>GCA352174926SCN11Ac.2541A>C (p.Arg847Ser)
c.2361A>C (p.Arg787Ser)
c.2585A>C (n.2585A>C)
c.2160A>C (p.Arg720Ser)
c.1878A>C (p.Arg626Ser)
c.1089A>C (p.Arg363Ser)
c.2916A>C (p.Arg972Ser)
c.2343A>C (p.Arg781Ser)
c.2268A>C (p.Arg756Ser)
c.945A>C (p.Arg315Ser)
3g.38894827T=CA1358718241SCN11Ac.2541A= (p.Arg847=)
c.2361A= (p.Arg787=)
c.2585A= (n.2585A=)
c.2160A= (p.Arg720=)
c.1878A= (p.Arg626=)
c.1089A= (p.Arg363=)
c.2916A= (p.Arg972=)
c.2343A= (p.Arg781=)
c.2268A= (p.Arg756=)
c.945A= (p.Arg315=)
3g.38894828C>ACA352174927SCN11Ac.2540G>T (p.Arg847Ile)
c.2360G>T (p.Arg787Ile)
c.2584G>T (n.2584G>T)
c.2159G>T (p.Arg720Ile)
c.1877G>T (p.Arg626Ile)
c.1088G>T (p.Arg363Ile)
c.2915G>T (p.Arg972Ile)
c.2342G>T (p.Arg781Ile)
c.2267G>T (p.Arg756Ile)
c.944G>T (p.Arg315Ile)
3g.38894828C>GCA352174928SCN11Ac.2540G>C (p.Arg847Thr)
c.2360G>C (p.Arg787Thr)
c.2584G>C (n.2584G>C)
c.2159G>C (p.Arg720Thr)
c.1877G>C (p.Arg626Thr)
c.1088G>C (p.Arg363Thr)
c.2915G>C (p.Arg972Thr)
c.2342G>C (p.Arg781Thr)
c.2267G>C (p.Arg756Thr)
c.944G>C (p.Arg315Thr)
3g.38894828C>TCA352174929SCN11Ac.2540G>A (p.Arg847Lys)
c.2360G>A (p.Arg787Lys)
c.2584G>A (n.2584G>A)
c.2159G>A (p.Arg720Lys)
c.1877G>A (p.Arg626Lys)
c.1088G>A (p.Arg363Lys)
c.2915G>A (p.Arg972Lys)
c.2342G>A (p.Arg781Lys)
c.2267G>A (p.Arg756Lys)
c.944G>A (p.Arg315Lys)
3g.38894829T>ACA352174930SCN11Ac.2539A>T (p.Arg847Ter)
c.2359A>T (p.Arg787Ter)
c.2583A>T (n.2583A>T)
c.2158A>T (p.Arg720Ter)
c.1876A>T (p.Arg626Ter)
c.1087A>T (p.Arg363Ter)
c.2914A>T (p.Arg972Ter)
c.2341A>T (p.Arg781Ter)
c.2266A>T (p.Arg756Ter)
c.943A>T (p.Arg315Ter)
 dbSNP gnomAD v4
3g.38894829T>CCA352174931SCN11Ac.2539A>G (p.Arg847Gly)
c.2359A>G (p.Arg787Gly)
c.2583A>G (n.2583A>G)
c.2158A>G (p.Arg720Gly)
c.1876A>G (p.Arg626Gly)
c.1087A>G (p.Arg363Gly)
c.2914A>G (p.Arg972Gly)
c.2341A>G (p.Arg781Gly)
c.2266A>G (p.Arg756Gly)
c.943A>G (p.Arg315Gly)
3g.38894829T>GCA433336146SCN11Ac.2539A>C (p.Arg847=)
c.2359A>C (p.Arg787=)
c.2583A>C (n.2583A>C)
c.2158A>C (p.Arg720=)
c.1876A>C (p.Arg626=)
c.1087A>C (p.Arg363=)
c.2914A>C (p.Arg972=)
c.2341A>C (p.Arg781=)
c.2266A>C (p.Arg756=)
c.943A>C (p.Arg315=)
3g.38894829T=CA1358718242SCN11Ac.2539A= (p.Arg847=)
c.2359A= (p.Arg787=)
c.2583A= (n.2583A=)
c.2158A= (p.Arg720=)
c.1876A= (p.Arg626=)
c.1087A= (p.Arg363=)
c.2914A= (p.Arg972=)
c.2341A= (p.Arg781=)
c.2266A= (p.Arg756=)
c.943A= (p.Arg315=)
3g.38894830C>ACA433336147SCN11Ac.2538G>T (p.Val846=)
c.2358G>T (p.Val786=)
c.2582G>T (n.2582G>T)
c.2157G>T (p.Val719=)
c.1875G>T (p.Val625=)
c.1086G>T (p.Val362=)
c.2913G>T (p.Val971=)
c.2340G>T (p.Val780=)
c.2265G>T (p.Val755=)
c.942G>T (p.Val314=)
3g.38894830C=CA1358718243SCN11Ac.2538G= (p.Val846=)
c.2358G= (p.Val786=)
c.2582G= (n.2582G=)
c.2157G= (p.Val719=)
c.1875G= (p.Val625=)
c.1086G= (p.Val362=)
c.2913G= (p.Val971=)
c.2340G= (p.Val780=)
c.2265G= (p.Val755=)
c.942G= (p.Val314=)
3g.38894830C>GCA433336149SCN11Ac.2538G>C (p.Val846=)
c.2358G>C (p.Val786=)
c.2582G>C (n.2582G>C)
c.2157G>C (p.Val719=)
c.1875G>C (p.Val625=)
c.1086G>C (p.Val362=)
c.2913G>C (p.Val971=)
c.2340G>C (p.Val780=)
c.2265G>C (p.Val755=)
c.942G>C (p.Val314=)
3g.38894830C>TCA2322018SCN11Ac.2538G>A (p.Val846=)
c.2358G>A (p.Val786=)
c.2582G>A (n.2582G>A)
c.2157G>A (p.Val719=)
c.1875G>A (p.Val625=)
c.1086G>A (p.Val362=)
c.2913G>A (p.Val971=)
c.2340G>A (p.Val780=)
c.2265G>A (p.Val755=)
c.942G>A (p.Val314=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894831A=CA1358718244SCN11Ac.2537T= (p.Val846=)
c.2357T= (p.Val786=)
c.2581T= (n.2581T=)
c.2156T= (p.Val719=)
c.1874T= (p.Val625=)
c.1085T= (p.Val362=)
c.2912T= (p.Val971=)
c.2339T= (p.Val780=)
c.2264T= (p.Val755=)
c.941T= (p.Val314=)
3g.38894831A>CCA352174932SCN11Ac.2537T>G (p.Val846Gly)
c.2357T>G (p.Val786Gly)
c.2581T>G (n.2581T>G)
c.2156T>G (p.Val719Gly)
c.1874T>G (p.Val625Gly)
c.1085T>G (p.Val362Gly)
c.2912T>G (p.Val971Gly)
c.2339T>G (p.Val780Gly)
c.2264T>G (p.Val755Gly)
c.941T>G (p.Val314Gly)
3g.38894831A>GCA352174933SCN11Ac.2537T>C (p.Val846Ala)
c.2357T>C (p.Val786Ala)
c.2581T>C (n.2581T>C)
c.2156T>C (p.Val719Ala)
c.1874T>C (p.Val625Ala)
c.1085T>C (p.Val362Ala)
c.2912T>C (p.Val971Ala)
c.2339T>C (p.Val780Ala)
c.2264T>C (p.Val755Ala)
c.941T>C (p.Val314Ala)
3g.38894831A>TCA352174934SCN11Ac.2537T>A (p.Val846Glu)
c.2357T>A (p.Val786Glu)
c.2581T>A (n.2581T>A)
c.2156T>A (p.Val719Glu)
c.1874T>A (p.Val625Glu)
c.1085T>A (p.Val362Glu)
c.2912T>A (p.Val971Glu)
c.2339T>A (p.Val780Glu)
c.2264T>A (p.Val755Glu)
c.941T>A (p.Val314Glu)
 dbSNP
3g.38894832C>ACA352174935SCN11Ac.2536G>T (p.Val846Leu)
c.2356G>T (p.Val786Leu)
c.2580G>T (n.2580G>T)
c.2155G>T (p.Val719Leu)
c.1873G>T (p.Val625Leu)
c.1084G>T (p.Val362Leu)
c.2911G>T (p.Val971Leu)
c.2338G>T (p.Val780Leu)
c.2263G>T (p.Val755Leu)
c.940G>T (p.Val314Leu)
3g.38894832C=CA1358718245SCN11Ac.2536G= (p.Val846=)
c.2356G= (p.Val786=)
c.2580G= (n.2580G=)
c.2155G= (p.Val719=)
c.1873G= (p.Val625=)
c.1084G= (p.Val362=)
c.2911G= (p.Val971=)
c.2338G= (p.Val780=)
c.2263G= (p.Val755=)
c.940G= (p.Val314=)
3g.38894832C>GCA352174936SCN11Ac.2536G>C (p.Val846Leu)
c.2356G>C (p.Val786Leu)
c.2580G>C (n.2580G>C)
c.2155G>C (p.Val719Leu)
c.1873G>C (p.Val625Leu)
c.1084G>C (p.Val362Leu)
c.2911G>C (p.Val971Leu)
c.2338G>C (p.Val780Leu)
c.2263G>C (p.Val755Leu)
c.940G>C (p.Val314Leu)
3g.38894832C>TCA72997691SCN11Ac.2536G>A (p.Val846Met)
c.2356G>A (p.Val786Met)
c.2580G>A (n.2580G>A)
c.2155G>A (p.Val719Met)
c.1873G>A (p.Val625Met)
c.1084G>A (p.Val362Met)
c.2911G>A (p.Val971Met)
c.2338G>A (p.Val780Met)
c.2263G>A (p.Val755Met)
c.940G>A (p.Val314Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38894833A=CA1358718246SCN11Ac.2535T= (p.Phe845=)
c.2355T= (p.Phe785=)
c.2579T= (n.2579T=)
c.2154T= (p.Phe718=)
c.1872T= (p.Phe624=)
c.1083T= (p.Phe361=)
c.2910T= (p.Phe970=)
c.2337T= (p.Phe779=)
c.2262T= (p.Phe754=)
c.939T= (p.Phe313=)
3g.38894833A>CCA352174937SCN11Ac.2535T>G (p.Phe845Leu)
c.2355T>G (p.Phe785Leu)
c.2579T>G (n.2579T>G)
c.2154T>G (p.Phe718Leu)
c.1872T>G (p.Phe624Leu)
c.1083T>G (p.Phe361Leu)
c.2910T>G (p.Phe970Leu)
c.2337T>G (p.Phe779Leu)
c.2262T>G (p.Phe754Leu)
c.939T>G (p.Phe313Leu)
3g.38894833A>GCA433336151SCN11Ac.2535T>C (p.Phe845=)
c.2355T>C (p.Phe785=)
c.2579T>C (n.2579T>C)
c.2154T>C (p.Phe718=)
c.1872T>C (p.Phe624=)
c.1083T>C (p.Phe361=)
c.2910T>C (p.Phe970=)
c.2337T>C (p.Phe779=)
c.2262T>C (p.Phe754=)
c.939T>C (p.Phe313=)
3g.38894833A>TCA352174938SCN11Ac.2535T>A (p.Phe845Leu)
c.2355T>A (p.Phe785Leu)
c.2579T>A (n.2579T>A)
c.2154T>A (p.Phe718Leu)
c.1872T>A (p.Phe624Leu)
c.1083T>A (p.Phe361Leu)
c.2910T>A (p.Phe970Leu)
c.2337T>A (p.Phe779Leu)
c.2262T>A (p.Phe754Leu)
c.939T>A (p.Phe313Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.38894836delCA2577554804SCN11Ac.2535del (p.Phe845LeufsTer2)
c.2355del (p.Phe785LeufsTer2)
c.2579del (n.2579del)
c.2154del (p.Phe718LeufsTer2)
c.1872del (p.Phe624LeufsTer2)
c.1083del (p.Phe361LeufsTer2)
c.2910del (p.Phe970LeufsTer2)
c.2337del (p.Phe779LeufsTer2)
c.2262del (p.Phe754LeufsTer2)
c.939del (p.Phe313LeufsTer2)
 gnomAD v4
3g.38894834A>CCA352174939SCN11Ac.2534T>G (p.Phe845Cys)
c.2354T>G (p.Phe785Cys)
c.2578T>G (n.2578T>G)
c.2153T>G (p.Phe718Cys)
c.1871T>G (p.Phe624Cys)
c.1082T>G (p.Phe361Cys)
c.2909T>G (p.Phe970Cys)
c.2336T>G (p.Phe779Cys)
c.2261T>G (p.Phe754Cys)
c.938T>G (p.Phe313Cys)
3g.38894834A>GCA352174940SCN11Ac.2534T>C (p.Phe845Ser)
c.2354T>C (p.Phe785Ser)
c.2578T>C (n.2578T>C)
c.2153T>C (p.Phe718Ser)
c.1871T>C (p.Phe624Ser)
c.1082T>C (p.Phe361Ser)
c.2909T>C (p.Phe970Ser)
c.2336T>C (p.Phe779Ser)
c.2261T>C (p.Phe754Ser)
c.938T>C (p.Phe313Ser)
3g.38894834A>TCA352174941SCN11Ac.2534T>A (p.Phe845Tyr)
c.2354T>A (p.Phe785Tyr)
c.2578T>A (n.2578T>A)
c.2153T>A (p.Phe718Tyr)
c.1871T>A (p.Phe624Tyr)
c.1082T>A (p.Phe361Tyr)
c.2909T>A (p.Phe970Tyr)
c.2336T>A (p.Phe779Tyr)
c.2261T>A (p.Phe754Tyr)
c.938T>A (p.Phe313Tyr)
3g.38894835A>CCA352174942SCN11Ac.2533T>G (p.Phe845Val)
c.2353T>G (p.Phe785Val)
c.2577T>G (n.2577T>G)
c.2152T>G (p.Phe718Val)
c.1870T>G (p.Phe624Val)
c.1081T>G (p.Phe361Val)
c.2908T>G (p.Phe970Val)
c.2335T>G (p.Phe779Val)
c.2260T>G (p.Phe754Val)
c.937T>G (p.Phe313Val)
3g.38894835A>GCA352174943SCN11Ac.2533T>C (p.Phe845Leu)
c.2353T>C (p.Phe785Leu)
c.2577T>C (n.2577T>C)
c.2152T>C (p.Phe718Leu)
c.1870T>C (p.Phe624Leu)
c.1081T>C (p.Phe361Leu)
c.2908T>C (p.Phe970Leu)
c.2335T>C (p.Phe779Leu)
c.2260T>C (p.Phe754Leu)
c.937T>C (p.Phe313Leu)
3g.38894835A>TCA352174944SCN11Ac.2533T>A (p.Phe845Ile)
c.2353T>A (p.Phe785Ile)
c.2577T>A (n.2577T>A)
c.2152T>A (p.Phe718Ile)
c.1870T>A (p.Phe624Ile)
c.1081T>A (p.Phe361Ile)
c.2908T>A (p.Phe970Ile)
c.2335T>A (p.Phe779Ile)
c.2260T>A (p.Phe754Ile)
c.937T>A (p.Phe313Ile)
3g.38894836A=CA1358718247SCN11Ac.2532T= (p.Cys844=)
c.2352T= (p.Cys784=)
c.2576T= (n.2576T=)
c.2151T= (p.Cys717=)
c.1869T= (p.Cys623=)
c.1080T= (p.Cys360=)
c.2907T= (p.Cys969=)
c.2334T= (p.Cys778=)
c.2259T= (p.Cys753=)
c.936T= (p.Cys312=)
3g.38894836A>CCA352174945SCN11Ac.2532T>G (p.Cys844Trp)
c.2352T>G (p.Cys784Trp)
c.2576T>G (n.2576T>G)
c.2151T>G (p.Cys717Trp)
c.1869T>G (p.Cys623Trp)
c.1080T>G (p.Cys360Trp)
c.2907T>G (p.Cys969Trp)
c.2334T>G (p.Cys778Trp)
c.2259T>G (p.Cys753Trp)
c.936T>G (p.Cys312Trp)
3g.38894836A>GCA433336153SCN11Ac.2532T>C (p.Cys844=)
c.2352T>C (p.Cys784=)
c.2576T>C (n.2576T>C)
c.2151T>C (p.Cys717=)
c.1869T>C (p.Cys623=)
c.1080T>C (p.Cys360=)
c.2907T>C (p.Cys969=)
c.2334T>C (p.Cys778=)
c.2259T>C (p.Cys753=)
c.936T>C (p.Cys312=)
3g.38894836A>TCA352174946SCN11Ac.2532T>A (p.Cys844Ter)
c.2352T>A (p.Cys784Ter)
c.2576T>A (n.2576T>A)
c.2151T>A (p.Cys717Ter)
c.1869T>A (p.Cys623Ter)
c.1080T>A (p.Cys360Ter)
c.2907T>A (p.Cys969Ter)
c.2334T>A (p.Cys778Ter)
c.2259T>A (p.Cys753Ter)
c.936T>A (p.Cys312Ter)
 dbSNP
3g.38894837C>ACA352174947SCN11Ac.2531G>T (p.Cys844Phe)
c.2351G>T (p.Cys784Phe)
c.2575G>T (n.2575G>T)
c.2150G>T (p.Cys717Phe)
c.1868G>T (p.Cys623Phe)
c.1079G>T (p.Cys360Phe)
c.2906G>T (p.Cys969Phe)
c.2333G>T (p.Cys778Phe)
c.2258G>T (p.Cys753Phe)
c.935G>T (p.Cys312Phe)
 gnomAD v4
3g.38894837C=CA1358718248SCN11Ac.2531G= (p.Cys844=)
c.2351G= (p.Cys784=)
c.2575G= (n.2575G=)
c.2150G= (p.Cys717=)
c.1868G= (p.Cys623=)
c.1079G= (p.Cys360=)
c.2906G= (p.Cys969=)
c.2333G= (p.Cys778=)
c.2258G= (p.Cys753=)
c.935G= (p.Cys312=)
3g.38894837C>GCA352174948SCN11Ac.2531G>C (p.Cys844Ser)
c.2351G>C (p.Cys784Ser)
c.2575G>C (n.2575G>C)
c.2150G>C (p.Cys717Ser)
c.1868G>C (p.Cys623Ser)
c.1079G>C (p.Cys360Ser)
c.2906G>C (p.Cys969Ser)
c.2333G>C (p.Cys778Ser)
c.2258G>C (p.Cys753Ser)
c.935G>C (p.Cys312Ser)
3g.38894837C>TCA2322019SCN11Ac.2531G>A (p.Cys844Tyr)
c.2351G>A (p.Cys784Tyr)
c.2575G>A (n.2575G>A)
c.2150G>A (p.Cys717Tyr)
c.1868G>A (p.Cys623Tyr)
c.1079G>A (p.Cys360Tyr)
c.2906G>A (p.Cys969Tyr)
c.2333G>A (p.Cys778Tyr)
c.2258G>A (p.Cys753Tyr)
c.935G>A (p.Cys312Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894838A=CA1358718249SCN11Ac.2530T= (p.Cys844=)
c.2350T= (p.Cys784=)
c.2574T= (n.2574T=)
c.2149T= (p.Cys717=)
c.1867T= (p.Cys623=)
c.1078T= (p.Cys360=)
c.2905T= (p.Cys969=)
c.2332T= (p.Cys778=)
c.2257T= (p.Cys753=)
c.934T= (p.Cys312=)
3g.38894838A>CCA352174949SCN11Ac.2530T>G (p.Cys844Gly)
c.2350T>G (p.Cys784Gly)
c.2574T>G (n.2574T>G)
c.2149T>G (p.Cys717Gly)
c.1867T>G (p.Cys623Gly)
c.1078T>G (p.Cys360Gly)
c.2905T>G (p.Cys969Gly)
c.2332T>G (p.Cys778Gly)
c.2257T>G (p.Cys753Gly)
c.934T>G (p.Cys312Gly)
3g.38894838A>GCA2322020SCN11Ac.2530T>C (p.Cys844Arg)
c.2350T>C (p.Cys784Arg)
c.2574T>C (n.2574T>C)
c.2149T>C (p.Cys717Arg)
c.1867T>C (p.Cys623Arg)
c.1078T>C (p.Cys360Arg)
c.2905T>C (p.Cys969Arg)
c.2332T>C (p.Cys778Arg)
c.2257T>C (p.Cys753Arg)
c.934T>C (p.Cys312Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894838A>TCA352174950SCN11Ac.2530T>A (p.Cys844Ser)
c.2350T>A (p.Cys784Ser)
c.2574T>A (n.2574T>A)
c.2149T>A (p.Cys717Ser)
c.1867T>A (p.Cys623Ser)
c.1078T>A (p.Cys360Ser)
c.2905T>A (p.Cys969Ser)
c.2332T>A (p.Cys778Ser)
c.2257T>A (p.Cys753Ser)
c.934T>A (p.Cys312Ser)
3g.38894838_38894839insCACCAAACACACCCAACACCA2755906863SCN11Ac.2529_2530insGTGTTGGGTGTGTTTGGTG (p.Cys844ValfsTer14)
c.2349_2350insGTGTTGGGTGTGTTTGGTG (p.Cys784ValfsTer14)
c.2573_2574insGTGTTGGGTGTGTTTGGTG (n.2573_2574insGTGTTGGGTGTGTTTGGTG)
c.2148_2149insGTGTTGGGTGTGTTTGGTG (p.Cys717ValfsTer14)
c.1866_1867insGTGTTGGGTGTGTTTGGTG (p.Cys623ValfsTer14)
c.1077_1078insGTGTTGGGTGTGTTTGGTG (p.Cys360ValfsTer14)
c.2904_2905insGTGTTGGGTGTGTTTGGTG (p.Cys969ValfsTer14)
c.2331_2332insGTGTTGGGTGTGTTTGGTG (p.Cys778ValfsTer14)
c.2256_2257insGTGTTGGGTGTGTTTGGTG (p.Cys753ValfsTer14)
c.933_934insGTGTTGGGTGTGTTTGGTG (p.Cys312ValfsTer14)
3g.38894839A=CA1358718250SCN11Ac.2529T= (p.Phe843=)
c.2349T= (p.Phe783=)
c.2573T= (n.2573T=)
c.2148T= (p.Phe716=)
c.1866T= (p.Phe622=)
c.1077T= (p.Phe359=)
c.2904T= (p.Phe968=)
c.2331T= (p.Phe777=)
c.2256T= (p.Phe752=)
c.933T= (p.Phe311=)
3g.38894839A>CCA352174951SCN11Ac.2529T>G (p.Phe843Leu)
c.2349T>G (p.Phe783Leu)
c.2573T>G (n.2573T>G)
c.2148T>G (p.Phe716Leu)
c.1866T>G (p.Phe622Leu)
c.1077T>G (p.Phe359Leu)
c.2904T>G (p.Phe968Leu)
c.2331T>G (p.Phe777Leu)
c.2256T>G (p.Phe752Leu)
c.933T>G (p.Phe311Leu)
3g.38894839A>GCA2322021SCN11Ac.2529T>C (p.Phe843=)
c.2349T>C (p.Phe783=)
c.2573T>C (n.2573T>C)
c.2148T>C (p.Phe716=)
c.1866T>C (p.Phe622=)
c.1077T>C (p.Phe359=)
c.2904T>C (p.Phe968=)
c.2331T>C (p.Phe777=)
c.2256T>C (p.Phe752=)
c.933T>C (p.Phe311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894839A>TCA352174952SCN11Ac.2529T>A (p.Phe843Leu)
c.2349T>A (p.Phe783Leu)
c.2573T>A (n.2573T>A)
c.2148T>A (p.Phe716Leu)
c.1866T>A (p.Phe622Leu)
c.1077T>A (p.Phe359Leu)
c.2904T>A (p.Phe968Leu)
c.2331T>A (p.Phe777Leu)
c.2256T>A (p.Phe752Leu)
c.933T>A (p.Phe311Leu)
3g.38894840A=CA1358718251SCN11Ac.2528T= (p.Phe843=)
c.2348T= (p.Phe783=)
c.2572T= (n.2572T=)
c.2147T= (p.Phe716=)
c.1865T= (p.Phe622=)
c.1076T= (p.Phe359=)
c.2903T= (p.Phe968=)
c.2330T= (p.Phe777=)
c.2255T= (p.Phe752=)
c.932T= (p.Phe311=)
3g.38894840A>CCA352174953SCN11Ac.2528T>G (p.Phe843Cys)
c.2348T>G (p.Phe783Cys)
c.2572T>G (n.2572T>G)
c.2147T>G (p.Phe716Cys)
c.1865T>G (p.Phe622Cys)
c.1076T>G (p.Phe359Cys)
c.2903T>G (p.Phe968Cys)
c.2330T>G (p.Phe777Cys)
c.2255T>G (p.Phe752Cys)
c.932T>G (p.Phe311Cys)
3g.38894840A>GCA352174954SCN11Ac.2528T>C (p.Phe843Ser)
c.2348T>C (p.Phe783Ser)
c.2572T>C (n.2572T>C)
c.2147T>C (p.Phe716Ser)
c.1865T>C (p.Phe622Ser)
c.1076T>C (p.Phe359Ser)
c.2903T>C (p.Phe968Ser)
c.2330T>C (p.Phe777Ser)
c.2255T>C (p.Phe752Ser)
c.932T>C (p.Phe311Ser)
 dbSNP
3g.38894840A>TCA352174955SCN11Ac.2528T>A (p.Phe843Tyr)
c.2348T>A (p.Phe783Tyr)
c.2572T>A (n.2572T>A)
c.2147T>A (p.Phe716Tyr)
c.1865T>A (p.Phe622Tyr)
c.1076T>A (p.Phe359Tyr)
c.2903T>A (p.Phe968Tyr)
c.2330T>A (p.Phe777Tyr)
c.2255T>A (p.Phe752Tyr)
c.932T>A (p.Phe311Tyr)
3g.38894841A>CCA352174956SCN11Ac.2527T>G (p.Phe843Val)
c.2347T>G (p.Phe783Val)
c.2571T>G (n.2571T>G)
c.2146T>G (p.Phe716Val)
c.1864T>G (p.Phe622Val)
c.1075T>G (p.Phe359Val)
c.2902T>G (p.Phe968Val)
c.2329T>G (p.Phe777Val)
c.2254T>G (p.Phe752Val)
c.931T>G (p.Phe311Val)
3g.38894841A>GCA352174957SCN11Ac.2527T>C (p.Phe843Leu)
c.2347T>C (p.Phe783Leu)
c.2571T>C (n.2571T>C)
c.2146T>C (p.Phe716Leu)
c.1864T>C (p.Phe622Leu)
c.1075T>C (p.Phe359Leu)
c.2902T>C (p.Phe968Leu)
c.2329T>C (p.Phe777Leu)
c.2254T>C (p.Phe752Leu)
c.931T>C (p.Phe311Leu)
3g.38894841A>TCA352174958SCN11Ac.2527T>A (p.Phe843Ile)
c.2347T>A (p.Phe783Ile)
c.2571T>A (n.2571T>A)
c.2146T>A (p.Phe716Ile)
c.1864T>A (p.Phe622Ile)
c.1075T>A (p.Phe359Ile)
c.2902T>A (p.Phe968Ile)
c.2329T>A (p.Phe777Ile)
c.2254T>A (p.Phe752Ile)
c.931T>A (p.Phe311Ile)
3g.38894842A>CCA433336156SCN11Ac.2526T>G (p.Ala842=)
c.2346T>G (p.Ala782=)
c.2570T>G (n.2570T>G)
c.2145T>G (p.Ala715=)
c.1863T>G (p.Ala621=)
c.1074T>G (p.Ala358=)
c.2901T>G (p.Ala967=)
c.2328T>G (p.Ala776=)
c.2253T>G (p.Ala751=)
c.930T>G (p.Ala310=)
3g.38894842A>GCA433336157SCN11Ac.2526T>C (p.Ala842=)
c.2346T>C (p.Ala782=)
c.2570T>C (n.2570T>C)
c.2145T>C (p.Ala715=)
c.1863T>C (p.Ala621=)
c.1074T>C (p.Ala358=)
c.2901T>C (p.Ala967=)
c.2328T>C (p.Ala776=)
c.2253T>C (p.Ala751=)
c.930T>C (p.Ala310=)
3g.38894842A>TCA433336158SCN11Ac.2526T>A (p.Ala842=)
c.2346T>A (p.Ala782=)
c.2570T>A (n.2570T>A)
c.2145T>A (p.Ala715=)
c.1863T>A (p.Ala621=)
c.1074T>A (p.Ala358=)
c.2901T>A (p.Ala967=)
c.2328T>A (p.Ala776=)
c.2253T>A (p.Ala751=)
c.930T>A (p.Ala310=)
3g.38894843G>ACA352174961SCN11Ac.2525C>T (p.Ala842Val)
c.2345C>T (p.Ala782Val)
c.2569C>T (n.2569C>T)
c.2144C>T (p.Ala715Val)
c.1862C>T (p.Ala621Val)
c.1073C>T (p.Ala358Val)
c.2900C>T (p.Ala967Val)
c.2327C>T (p.Ala776Val)
c.2252C>T (p.Ala751Val)
c.929C>T (p.Ala310Val)
 gnomAD v4 COSMIC
3g.38894843G>CCA352174960SCN11Ac.2525C>G (p.Ala842Gly)
c.2345C>G (p.Ala782Gly)
c.2569C>G (n.2569C>G)
c.2144C>G (p.Ala715Gly)
c.1862C>G (p.Ala621Gly)
c.1073C>G (p.Ala358Gly)
c.2900C>G (p.Ala967Gly)
c.2327C>G (p.Ala776Gly)
c.2252C>G (p.Ala751Gly)
c.929C>G (p.Ala310Gly)
3g.38894843G>TCA352174959SCN11Ac.2525C>A (p.Ala842Asp)
c.2345C>A (p.Ala782Asp)
c.2569C>A (n.2569C>A)
c.2144C>A (p.Ala715Asp)
c.1862C>A (p.Ala621Asp)
c.1073C>A (p.Ala358Asp)
c.2900C>A (p.Ala967Asp)
c.2327C>A (p.Ala776Asp)
c.2252C>A (p.Ala751Asp)
c.929C>A (p.Ala310Asp)
3g.38894844C>ACA352174962SCN11Ac.2524G>T (p.Ala842Ser)
c.2344G>T (p.Ala782Ser)
c.2568G>T (n.2568G>T)
c.2143G>T (p.Ala715Ser)
c.1861G>T (p.Ala621Ser)
c.1072G>T (p.Ala358Ser)
c.2899G>T (p.Ala967Ser)
c.2326G>T (p.Ala776Ser)
c.2251G>T (p.Ala751Ser)
c.928G>T (p.Ala310Ser)
3g.38894844C=CA1358718252SCN11Ac.2524G= (p.Ala842=)
c.2344G= (p.Ala782=)
c.2568G= (n.2568G=)
c.2143G= (p.Ala715=)
c.1861G= (p.Ala621=)
c.1072G= (p.Ala358=)
c.2899G= (p.Ala967=)
c.2326G= (p.Ala776=)
c.2251G= (p.Ala751=)
c.928G= (p.Ala310=)
3g.38894844C>GCA352174963SCN11Ac.2524G>C (p.Ala842Pro)
c.2344G>C (p.Ala782Pro)
c.2568G>C (n.2568G>C)
c.2143G>C (p.Ala715Pro)
c.1861G>C (p.Ala621Pro)
c.1072G>C (p.Ala358Pro)
c.2899G>C (p.Ala967Pro)
c.2326G>C (p.Ala776Pro)
c.2251G>C (p.Ala751Pro)
c.928G>C (p.Ala310Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38894844C>TCA352174964SCN11Ac.2524G>A (p.Ala842Thr)
c.2344G>A (p.Ala782Thr)
c.2568G>A (n.2568G>A)
c.2143G>A (p.Ala715Thr)
c.1861G>A (p.Ala621Thr)
c.1072G>A (p.Ala358Thr)
c.2899G>A (p.Ala967Thr)
c.2326G>A (p.Ala776Thr)
c.2251G>A (p.Ala751Thr)
c.928G>A (p.Ala310Thr)
 gnomAD v4
3g.38894845C>ACA433336160SCN11Ac.2523G>T (p.Arg841=)
c.2343G>T (p.Arg781=)
c.2567G>T (n.2567G>T)
c.2142G>T (p.Arg714=)
c.1860G>T (p.Arg620=)
c.1071G>T (p.Arg357=)
c.2898G>T (p.Arg966=)
c.2325G>T (p.Arg775=)
c.2250G>T (p.Arg750=)
c.927G>T (p.Arg309=)
3g.38894845C=CA1358718253SCN11Ac.2523G= (p.Arg841=)
c.2343G= (p.Arg781=)
c.2567G= (n.2567G=)
c.2142G= (p.Arg714=)
c.1860G= (p.Arg620=)
c.1071G= (p.Arg357=)
c.2898G= (p.Arg966=)
c.2325G= (p.Arg775=)
c.2250G= (p.Arg750=)
c.927G= (p.Arg309=)
3g.38894845C>GCA433336161SCN11Ac.2523G>C (p.Arg841=)
c.2343G>C (p.Arg781=)
c.2567G>C (n.2567G>C)
c.2142G>C (p.Arg714=)
c.1860G>C (p.Arg620=)
c.1071G>C (p.Arg357=)
c.2898G>C (p.Arg966=)
c.2325G>C (p.Arg775=)
c.2250G>C (p.Arg750=)
c.927G>C (p.Arg309=)
3g.38894845C>TCA433336162SCN11Ac.2523G>A (p.Arg841=)
c.2343G>A (p.Arg781=)
c.2567G>A (n.2567G>A)
c.2142G>A (p.Arg714=)
c.1860G>A (p.Arg620=)
c.1071G>A (p.Arg357=)
c.2898G>A (p.Arg966=)
c.2325G>A (p.Arg775=)
c.2250G>A (p.Arg750=)
c.927G>A (p.Arg309=)
 dbSNP gnomAD v4
3g.38894846C>ACA352174965SCN11Ac.2522G>T (p.Arg841Leu)
c.2342G>T (p.Arg781Leu)
c.2566G>T (n.2566G>T)
c.2141G>T (p.Arg714Leu)
c.1859G>T (p.Arg620Leu)
c.1070G>T (p.Arg357Leu)
c.2897G>T (p.Arg966Leu)
c.2324G>T (p.Arg775Leu)
c.2249G>T (p.Arg750Leu)
c.926G>T (p.Arg309Leu)
3g.38894846C=CA1358718254SCN11Ac.2522G= (p.Arg841=)
c.2342G= (p.Arg781=)
c.2566G= (n.2566G=)
c.2141G= (p.Arg714=)
c.1859G= (p.Arg620=)
c.1070G= (p.Arg357=)
c.2897G= (p.Arg966=)
c.2324G= (p.Arg775=)
c.2249G= (p.Arg750=)
c.926G= (p.Arg309=)
3g.38894846C>GCA352174966SCN11Ac.2522G>C (p.Arg841Pro)
c.2342G>C (p.Arg781Pro)
c.2566G>C (n.2566G>C)
c.2141G>C (p.Arg714Pro)
c.1859G>C (p.Arg620Pro)
c.1070G>C (p.Arg357Pro)
c.2897G>C (p.Arg966Pro)
c.2324G>C (p.Arg775Pro)
c.2249G>C (p.Arg750Pro)
c.926G>C (p.Arg309Pro)
3g.38894846C>TCA2322022SCN11Ac.2522G>A (p.Arg841Gln)
c.2342G>A (p.Arg781Gln)
c.2566G>A (n.2566G>A)
c.2141G>A (p.Arg714Gln)
c.1859G>A (p.Arg620Gln)
c.1070G>A (p.Arg357Gln)
c.2897G>A (p.Arg966Gln)
c.2324G>A (p.Arg775Gln)
c.2249G>A (p.Arg750Gln)
c.926G>A (p.Arg309Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894847G>ACA2322023SCN11Ac.2521C>T (p.Arg841Trp)
c.2341C>T (p.Arg781Trp)
c.2565C>T (n.2565C>T)
c.2140C>T (p.Arg714Trp)
c.1858C>T (p.Arg620Trp)
c.1069C>T (p.Arg357Trp)
c.2896C>T (p.Arg966Trp)
c.2323C>T (p.Arg775Trp)
c.2248C>T (p.Arg750Trp)
c.925C>T (p.Arg309Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894847G>CCA352174967SCN11Ac.2521C>G (p.Arg841Gly)
c.2341C>G (p.Arg781Gly)
c.2565C>G (n.2565C>G)
c.2140C>G (p.Arg714Gly)
c.1858C>G (p.Arg620Gly)
c.1069C>G (p.Arg357Gly)
c.2896C>G (p.Arg966Gly)
c.2323C>G (p.Arg775Gly)
c.2248C>G (p.Arg750Gly)
c.925C>G (p.Arg309Gly)
3g.38894847G=CA1358718255SCN11Ac.2521C= (p.Arg841=)
c.2341C= (p.Arg781=)
c.2565C= (n.2565C=)
c.2140C= (p.Arg714=)
c.1858C= (p.Arg620=)
c.1069C= (p.Arg357=)
c.2896C= (p.Arg966=)
c.2323C= (p.Arg775=)
c.2248C= (p.Arg750=)
c.925C= (p.Arg309=)
3g.38894847G>TCA433336165SCN11Ac.2521C>A (p.Arg841=)
c.2341C>A (p.Arg781=)
c.2565C>A (n.2565C>A)
c.2140C>A (p.Arg714=)
c.1858C>A (p.Arg620=)
c.1069C>A (p.Arg357=)
c.2896C>A (p.Arg966=)
c.2323C>A (p.Arg775=)
c.2248C>A (p.Arg750=)
c.925C>A (p.Arg309=)
3g.38894848G>ACA433336167SCN11Ac.2520C>T (p.Arg840=)
c.2340C>T (p.Arg780=)
c.2564C>T (n.2564C>T)
c.2139C>T (p.Arg713=)
c.1857C>T (p.Arg619=)
c.1068C>T (p.Arg356=)
c.2895C>T (p.Arg965=)
c.2322C>T (p.Arg774=)
c.2247C>T (p.Arg749=)
c.924C>T (p.Arg308=)
 gnomAD v4
3g.38894848G>CCA433336168SCN11Ac.2520C>G (p.Arg840=)
c.2340C>G (p.Arg780=)
c.2564C>G (n.2564C>G)
c.2139C>G (p.Arg713=)
c.1857C>G (p.Arg619=)
c.1068C>G (p.Arg356=)
c.2895C>G (p.Arg965=)
c.2322C>G (p.Arg774=)
c.2247C>G (p.Arg749=)
c.924C>G (p.Arg308=)
3g.38894848G>TCA433336166SCN11Ac.2520C>A (p.Arg840=)
c.2340C>A (p.Arg780=)
c.2564C>A (n.2564C>A)
c.2139C>A (p.Arg713=)
c.1857C>A (p.Arg619=)
c.1068C>A (p.Arg356=)
c.2895C>A (p.Arg965=)
c.2322C>A (p.Arg774=)
c.2247C>A (p.Arg749=)
c.924C>A (p.Arg308=)
3g.38894849C>ACA2322025SCN11Ac.2519G>T (p.Arg840Leu)
c.2339G>T (p.Arg780Leu)
c.2563G>T (n.2563G>T)
c.2138G>T (p.Arg713Leu)
c.1856G>T (p.Arg619Leu)
c.1067G>T (p.Arg356Leu)
c.2894G>T (p.Arg965Leu)
c.2321G>T (p.Arg774Leu)
c.2246G>T (p.Arg749Leu)
c.923G>T (p.Arg308Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894849C=CA1358718256SCN11Ac.2519G= (p.Arg840=)
c.2339G= (p.Arg780=)
c.2563G= (n.2563G=)
c.2138G= (p.Arg713=)
c.1856G= (p.Arg619=)
c.1067G= (p.Arg356=)
c.2894G= (p.Arg965=)
c.2321G= (p.Arg774=)
c.2246G= (p.Arg749=)
c.923G= (p.Arg308=)
3g.38894849C>GCA352174968SCN11Ac.2519G>C (p.Arg840Pro)
c.2339G>C (p.Arg780Pro)
c.2563G>C (n.2563G>C)
c.2138G>C (p.Arg713Pro)
c.1856G>C (p.Arg619Pro)
c.1067G>C (p.Arg356Pro)
c.2894G>C (p.Arg965Pro)
c.2321G>C (p.Arg774Pro)
c.2246G>C (p.Arg749Pro)
c.923G>C (p.Arg308Pro)
3g.38894849C>TCA2322024SCN11Ac.2519G>A (p.Arg840His)
c.2339G>A (p.Arg780His)
c.2563G>A (n.2563G>A)
c.2138G>A (p.Arg713His)
c.1856G>A (p.Arg619His)
c.1067G>A (p.Arg356His)
c.2894G>A (p.Arg965His)
c.2321G>A (p.Arg774His)
c.2246G>A (p.Arg749His)
c.923G>A (p.Arg308His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894850G>ACA2322026SCN11Ac.2518C>T (p.Arg840Cys)
c.2338C>T (p.Arg780Cys)
c.2562C>T (n.2562C>T)
c.2137C>T (p.Arg713Cys)
c.1855C>T (p.Arg619Cys)
c.1066C>T (p.Arg356Cys)
c.2893C>T (p.Arg965Cys)
c.2320C>T (p.Arg774Cys)
c.2245C>T (p.Arg749Cys)
c.922C>T (p.Arg308Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894850G>CCA352174969SCN11Ac.2518C>G (p.Arg840Gly)
c.2338C>G (p.Arg780Gly)
c.2562C>G (n.2562C>G)
c.2137C>G (p.Arg713Gly)
c.1855C>G (p.Arg619Gly)
c.1066C>G (p.Arg356Gly)
c.2893C>G (p.Arg965Gly)
c.2320C>G (p.Arg774Gly)
c.2245C>G (p.Arg749Gly)
c.922C>G (p.Arg308Gly)
3g.38894850G=CA1358718257SCN11Ac.2518C= (p.Arg840=)
c.2338C= (p.Arg780=)
c.2562C= (n.2562C=)
c.2137C= (p.Arg713=)
c.1855C= (p.Arg619=)
c.1066C= (p.Arg356=)
c.2893C= (p.Arg965=)
c.2320C= (p.Arg774=)
c.2245C= (p.Arg749=)
c.922C= (p.Arg308=)
3g.38894850G>TCA352174970SCN11Ac.2518C>A (p.Arg840Ser)
c.2338C>A (p.Arg780Ser)
c.2562C>A (n.2562C>A)
c.2137C>A (p.Arg713Ser)
c.1855C>A (p.Arg619Ser)
c.1066C>A (p.Arg356Ser)
c.2893C>A (p.Arg965Ser)
c.2320C>A (p.Arg774Ser)
c.2245C>A (p.Arg749Ser)
c.922C>A (p.Arg308Ser)
3g.38894851G>ACA433336169SCN11Ac.2517C>T (p.Phe839=)
c.2337C>T (p.Phe779=)
c.2561C>T (n.2561C>T)
c.2136C>T (p.Phe712=)
c.1854C>T (p.Phe618=)
c.1065C>T (p.Phe355=)
c.2892C>T (p.Phe964=)
c.2319C>T (p.Phe773=)
c.2244C>T (p.Phe748=)
c.921C>T (p.Phe307=)
 ClinVar dbSNP
3g.38894851G>CCA352174972SCN11Ac.2517C>G (p.Phe839Leu)
c.2337C>G (p.Phe779Leu)
c.2561C>G (n.2561C>G)
c.2136C>G (p.Phe712Leu)
c.1854C>G (p.Phe618Leu)
c.1065C>G (p.Phe355Leu)
c.2892C>G (p.Phe964Leu)
c.2319C>G (p.Phe773Leu)
c.2244C>G (p.Phe748Leu)
c.921C>G (p.Phe307Leu)
 ClinVar dbSNP
3g.38894851G=CA1358718258SCN11Ac.2517C= (p.Phe839=)
c.2337C= (p.Phe779=)
c.2561C= (n.2561C=)
c.2136C= (p.Phe712=)
c.1854C= (p.Phe618=)
c.1065C= (p.Phe355=)
c.2892C= (p.Phe964=)
c.2319C= (p.Phe773=)
c.2244C= (p.Phe748=)
c.921C= (p.Phe307=)
3g.38894851G>TCA352174971SCN11Ac.2517C>A (p.Phe839Leu)
c.2337C>A (p.Phe779Leu)
c.2561C>A (n.2561C>A)
c.2136C>A (p.Phe712Leu)
c.1854C>A (p.Phe618Leu)
c.1065C>A (p.Phe355Leu)
c.2892C>A (p.Phe964Leu)
c.2319C>A (p.Phe773Leu)
c.2244C>A (p.Phe748Leu)
c.921C>A (p.Phe307Leu)
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)

Number of alleles fetched