Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38894638C>ACA352174515SCN11Ac.2730G>T (p.Arg910Ser)
c.2550G>T (p.Arg850Ser)
c.2774G>T (n.2774G>T)
c.2349G>T (p.Arg783Ser)
c.2067G>T (p.Arg689Ser)
c.1278G>T (p.Arg426Ser)
c.3105G>T (p.Arg1035Ser)
c.2532G>T (p.Arg844Ser)
c.2457G>T (p.Arg819Ser)
c.1134G>T (p.Arg378Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.38894638C=CA1358718136SCN11Ac.2730G= (p.Arg910=)
c.2550G= (p.Arg850=)
c.2774G= (n.2774G=)
c.2349G= (p.Arg783=)
c.2067G= (p.Arg689=)
c.1278G= (p.Arg426=)
c.3105G= (p.Arg1035=)
c.2532G= (p.Arg844=)
c.2457G= (p.Arg819=)
c.1134G= (p.Arg378=)
3g.38894638C>GCA352174516SCN11Ac.2730G>C (p.Arg910Ser)
c.2550G>C (p.Arg850Ser)
c.2774G>C (n.2774G>C)
c.2349G>C (p.Arg783Ser)
c.2067G>C (p.Arg689Ser)
c.1278G>C (p.Arg426Ser)
c.3105G>C (p.Arg1035Ser)
c.2532G>C (p.Arg844Ser)
c.2457G>C (p.Arg819Ser)
c.1134G>C (p.Arg378Ser)
3g.38894638C>TCA72997391SCN11Ac.2730G>A (p.Arg910=)
c.2550G>A (p.Arg850=)
c.2774G>A (n.2774G>A)
c.2349G>A (p.Arg783=)
c.2067G>A (p.Arg689=)
c.1278G>A (p.Arg426=)
c.3105G>A (p.Arg1035=)
c.2532G>A (p.Arg844=)
c.2457G>A (p.Arg819=)
c.1134G>A (p.Arg378=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894639C>ACA352174518SCN11Ac.2729G>T (p.Arg910Met)
c.2549G>T (p.Arg850Met)
c.2773G>T (n.2773G>T)
c.2348G>T (p.Arg783Met)
c.2066G>T (p.Arg689Met)
c.1277G>T (p.Arg426Met)
c.3104G>T (p.Arg1035Met)
c.2531G>T (p.Arg844Met)
c.2456G>T (p.Arg819Met)
c.1133G>T (p.Arg378Met)
 gnomAD v4
3g.38894639C=CA1358718137SCN11Ac.2729G= (p.Arg910=)
c.2549G= (p.Arg850=)
c.2773G= (n.2773G=)
c.2348G= (p.Arg783=)
c.2066G= (p.Arg689=)
c.1277G= (p.Arg426=)
c.3104G= (p.Arg1035=)
c.2531G= (p.Arg844=)
c.2456G= (p.Arg819=)
c.1133G= (p.Arg378=)
3g.38894639C>GCA2321983SCN11Ac.2729G>C (p.Arg910Thr)
c.2549G>C (p.Arg850Thr)
c.2773G>C (n.2773G>C)
c.2348G>C (p.Arg783Thr)
c.2066G>C (p.Arg689Thr)
c.1277G>C (p.Arg426Thr)
c.3104G>C (p.Arg1035Thr)
c.2531G>C (p.Arg844Thr)
c.2456G>C (p.Arg819Thr)
c.1133G>C (p.Arg378Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894639C>TCA352174517SCN11Ac.2729G>A (p.Arg910Lys)
c.2549G>A (p.Arg850Lys)
c.2773G>A (n.2773G>A)
c.2348G>A (p.Arg783Lys)
c.2066G>A (p.Arg689Lys)
c.1277G>A (p.Arg426Lys)
c.3104G>A (p.Arg1035Lys)
c.2531G>A (p.Arg844Lys)
c.2456G>A (p.Arg819Lys)
c.1133G>A (p.Arg378Lys)
3g.38894640T>ACA352174519SCN11Ac.2728A>T (p.Arg910Trp)
c.2548A>T (p.Arg850Trp)
c.2772A>T (n.2772A>T)
c.2347A>T (p.Arg783Trp)
c.2065A>T (p.Arg689Trp)
c.1276A>T (p.Arg426Trp)
c.3103A>T (p.Arg1035Trp)
c.2530A>T (p.Arg844Trp)
c.2455A>T (p.Arg819Trp)
c.1132A>T (p.Arg378Trp)
3g.38894640T>CCA352174520SCN11Ac.2728A>G (p.Arg910Gly)
c.2548A>G (p.Arg850Gly)
c.2772A>G (n.2772A>G)
c.2347A>G (p.Arg783Gly)
c.2065A>G (p.Arg689Gly)
c.1276A>G (p.Arg426Gly)
c.3103A>G (p.Arg1035Gly)
c.2530A>G (p.Arg844Gly)
c.2455A>G (p.Arg819Gly)
c.1132A>G (p.Arg378Gly)
3g.38894640T>GCA433336025SCN11Ac.2728A>C (p.Arg910=)
c.2548A>C (p.Arg850=)
c.2772A>C (n.2772A>C)
c.2347A>C (p.Arg783=)
c.2065A>C (p.Arg689=)
c.1276A>C (p.Arg426=)
c.3103A>C (p.Arg1035=)
c.2530A>C (p.Arg844=)
c.2455A>C (p.Arg819=)
c.1132A>C (p.Arg378=)
3g.38894641G>ACA433336026SCN11Ac.2727C>T (p.Val909=)
c.2547C>T (p.Val849=)
c.2771C>T (n.2771C>T)
c.2346C>T (p.Val782=)
c.2064C>T (p.Val688=)
c.1275C>T (p.Val425=)
c.3102C>T (p.Val1034=)
c.2529C>T (p.Val843=)
c.2454C>T (p.Val818=)
c.1131C>T (p.Val377=)
3g.38894641G>CCA433336027SCN11Ac.2727C>G (p.Val909=)
c.2547C>G (p.Val849=)
c.2771C>G (n.2771C>G)
c.2346C>G (p.Val782=)
c.2064C>G (p.Val688=)
c.1275C>G (p.Val425=)
c.3102C>G (p.Val1034=)
c.2529C>G (p.Val843=)
c.2454C>G (p.Val818=)
c.1131C>G (p.Val377=)
 dbSNP
3g.38894641G=CA1358718138SCN11Ac.2727C= (p.Val909=)
c.2547C= (p.Val849=)
c.2771C= (n.2771C=)
c.2346C= (p.Val782=)
c.2064C= (p.Val688=)
c.1275C= (p.Val425=)
c.3102C= (p.Val1034=)
c.2529C= (p.Val843=)
c.2454C= (p.Val818=)
c.1131C= (p.Val377=)
3g.38894641G>TCA433336028SCN11Ac.2727C>A (p.Val909=)
c.2547C>A (p.Val849=)
c.2771C>A (n.2771C>A)
c.2346C>A (p.Val782=)
c.2064C>A (p.Val688=)
c.1275C>A (p.Val425=)
c.3102C>A (p.Val1034=)
c.2529C>A (p.Val843=)
c.2454C>A (p.Val818=)
c.1131C>A (p.Val377=)
3g.38894642A>CCA352174521SCN11Ac.2726T>G (p.Val909Gly)
c.2546T>G (p.Val849Gly)
c.2770T>G (n.2770T>G)
c.2345T>G (p.Val782Gly)
c.2063T>G (p.Val688Gly)
c.1274T>G (p.Val425Gly)
c.3101T>G (p.Val1034Gly)
c.2528T>G (p.Val843Gly)
c.2453T>G (p.Val818Gly)
c.1130T>G (p.Val377Gly)
3g.38894642A>GCA352174522SCN11Ac.2726T>C (p.Val909Ala)
c.2546T>C (p.Val849Ala)
c.2770T>C (n.2770T>C)
c.2345T>C (p.Val782Ala)
c.2063T>C (p.Val688Ala)
c.1274T>C (p.Val425Ala)
c.3101T>C (p.Val1034Ala)
c.2528T>C (p.Val843Ala)
c.2453T>C (p.Val818Ala)
c.1130T>C (p.Val377Ala)
3g.38894642A>TCA352174523SCN11Ac.2726T>A (p.Val909Asp)
c.2546T>A (p.Val849Asp)
c.2770T>A (n.2770T>A)
c.2345T>A (p.Val782Asp)
c.2063T>A (p.Val688Asp)
c.1274T>A (p.Val425Asp)
c.3101T>A (p.Val1034Asp)
c.2528T>A (p.Val843Asp)
c.2453T>A (p.Val818Asp)
c.1130T>A (p.Val377Asp)
3g.38894643C>ACA2321985SCN11Ac.2725G>T (p.Val909Phe)
c.2545G>T (p.Val849Phe)
c.2769G>T (n.2769G>T)
c.2344G>T (p.Val782Phe)
c.2062G>T (p.Val688Phe)
c.1273G>T (p.Val425Phe)
c.3100G>T (p.Val1034Phe)
c.2527G>T (p.Val843Phe)
c.2452G>T (p.Val818Phe)
c.1129G>T (p.Val377Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894643C=CA1358718139SCN11Ac.2725G= (p.Val909=)
c.2545G= (p.Val849=)
c.2769G= (n.2769G=)
c.2344G= (p.Val782=)
c.2062G= (p.Val688=)
c.1273G= (p.Val425=)
c.3100G= (p.Val1034=)
c.2527G= (p.Val843=)
c.2452G= (p.Val818=)
c.1129G= (p.Val377=)
3g.38894643C>GCA352174524SCN11Ac.2725G>C (p.Val909Leu)
c.2545G>C (p.Val849Leu)
c.2769G>C (n.2769G>C)
c.2344G>C (p.Val782Leu)
c.2062G>C (p.Val688Leu)
c.1273G>C (p.Val425Leu)
c.3100G>C (p.Val1034Leu)
c.2527G>C (p.Val843Leu)
c.2452G>C (p.Val818Leu)
c.1129G>C (p.Val377Leu)
3g.38894643C>TCA2321984SCN11Ac.2725G>A (p.Val909Ile)
c.2545G>A (p.Val849Ile)
c.2769G>A (n.2769G>A)
c.2344G>A (p.Val782Ile)
c.2062G>A (p.Val688Ile)
c.1273G>A (p.Val425Ile)
c.3100G>A (p.Val1034Ile)
c.2527G>A (p.Val843Ile)
c.2452G>A (p.Val818Ile)
c.1129G>A (p.Val377Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894644G>ACA2321986SCN11Ac.2724C>T (p.Gly908=)
c.2544C>T (p.Gly848=)
c.2768C>T (n.2768C>T)
c.2343C>T (p.Gly781=)
c.2061C>T (p.Gly687=)
c.1272C>T (p.Gly424=)
c.3099C>T (p.Gly1033=)
c.2526C>T (p.Gly842=)
c.2451C>T (p.Gly817=)
c.1128C>T (p.Gly376=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38894644G>CCA433336029SCN11Ac.2724C>G (p.Gly908=)
c.2544C>G (p.Gly848=)
c.2768C>G (n.2768C>G)
c.2343C>G (p.Gly781=)
c.2061C>G (p.Gly687=)
c.1272C>G (p.Gly424=)
c.3099C>G (p.Gly1033=)
c.2526C>G (p.Gly842=)
c.2451C>G (p.Gly817=)
c.1128C>G (p.Gly376=)
3g.38894644G=CA1358718140SCN11Ac.2724C= (p.Gly908=)
c.2544C= (p.Gly848=)
c.2768C= (n.2768C=)
c.2343C= (p.Gly781=)
c.2061C= (p.Gly687=)
c.1272C= (p.Gly424=)
c.3099C= (p.Gly1033=)
c.2526C= (p.Gly842=)
c.2451C= (p.Gly817=)
c.1128C= (p.Gly376=)
3g.38894644G>TCA433336030SCN11Ac.2724C>A (p.Gly908=)
c.2544C>A (p.Gly848=)
c.2768C>A (n.2768C>A)
c.2343C>A (p.Gly781=)
c.2061C>A (p.Gly687=)
c.1272C>A (p.Gly424=)
c.3099C>A (p.Gly1033=)
c.2526C>A (p.Gly842=)
c.2451C>A (p.Gly817=)
c.1128C>A (p.Gly376=)
3g.38894645C>ACA352174525SCN11Ac.2723G>T (p.Gly908Val)
c.2543G>T (p.Gly848Val)
c.2767G>T (n.2767G>T)
c.2342G>T (p.Gly781Val)
c.2060G>T (p.Gly687Val)
c.1271G>T (p.Gly424Val)
c.3098G>T (p.Gly1033Val)
c.2525G>T (p.Gly842Val)
c.2450G>T (p.Gly817Val)
c.1127G>T (p.Gly376Val)
3g.38894645C=CA1358718141SCN11Ac.2723G= (p.Gly908=)
c.2543G= (p.Gly848=)
c.2767G= (n.2767G=)
c.2342G= (p.Gly781=)
c.2060G= (p.Gly687=)
c.1271G= (p.Gly424=)
c.3098G= (p.Gly1033=)
c.2525G= (p.Gly842=)
c.2450G= (p.Gly817=)
c.1127G= (p.Gly376=)
3g.38894645C>GCA352174526SCN11Ac.2723G>C (p.Gly908Ala)
c.2543G>C (p.Gly848Ala)
c.2767G>C (n.2767G>C)
c.2342G>C (p.Gly781Ala)
c.2060G>C (p.Gly687Ala)
c.1271G>C (p.Gly424Ala)
c.3098G>C (p.Gly1033Ala)
c.2525G>C (p.Gly842Ala)
c.2450G>C (p.Gly817Ala)
c.1127G>C (p.Gly376Ala)
3g.38894645C>TCA352174527SCN11Ac.2723G>A (p.Gly908Asp)
c.2543G>A (p.Gly848Asp)
c.2767G>A (n.2767G>A)
c.2342G>A (p.Gly781Asp)
c.2060G>A (p.Gly687Asp)
c.1271G>A (p.Gly424Asp)
c.3098G>A (p.Gly1033Asp)
c.2525G>A (p.Gly842Asp)
c.2450G>A (p.Gly817Asp)
c.1127G>A (p.Gly376Asp)
 dbSNP COSMIC
3g.38894646C>ACA352174528SCN11Ac.2722G>T (p.Gly908Cys)
c.2542G>T (p.Gly848Cys)
c.2766G>T (n.2766G>T)
c.2341G>T (p.Gly781Cys)
c.2059G>T (p.Gly687Cys)
c.1270G>T (p.Gly424Cys)
c.3097G>T (p.Gly1033Cys)
c.2524G>T (p.Gly842Cys)
c.2449G>T (p.Gly817Cys)
c.1126G>T (p.Gly376Cys)
3g.38894646C>GCA352174530SCN11Ac.2722G>C (p.Gly908Arg)
c.2542G>C (p.Gly848Arg)
c.2766G>C (n.2766G>C)
c.2341G>C (p.Gly781Arg)
c.2059G>C (p.Gly687Arg)
c.1270G>C (p.Gly424Arg)
c.3097G>C (p.Gly1033Arg)
c.2524G>C (p.Gly842Arg)
c.2449G>C (p.Gly817Arg)
c.1126G>C (p.Gly376Arg)
3g.38894646C>TCA352174529SCN11Ac.2722G>A (p.Gly908Ser)
c.2542G>A (p.Gly848Ser)
c.2766G>A (n.2766G>A)
c.2341G>A (p.Gly781Ser)
c.2059G>A (p.Gly687Ser)
c.1270G>A (p.Gly424Ser)
c.3097G>A (p.Gly1033Ser)
c.2524G>A (p.Gly842Ser)
c.2449G>A (p.Gly817Ser)
c.1126G>A (p.Gly376Ser)
3g.38894647C>ACA433336031SCN11Ac.2721G>T (p.Leu907=)
c.2541G>T (p.Leu847=)
c.2765G>T (n.2765G>T)
c.2340G>T (p.Leu780=)
c.2058G>T (p.Leu686=)
c.1269G>T (p.Leu423=)
c.3096G>T (p.Leu1032=)
c.2523G>T (p.Leu841=)
c.2448G>T (p.Leu816=)
c.1125G>T (p.Leu375=)
3g.38894647C>GCA433336032SCN11Ac.2721G>C (p.Leu907=)
c.2541G>C (p.Leu847=)
c.2765G>C (n.2765G>C)
c.2340G>C (p.Leu780=)
c.2058G>C (p.Leu686=)
c.1269G>C (p.Leu423=)
c.3096G>C (p.Leu1032=)
c.2523G>C (p.Leu841=)
c.2448G>C (p.Leu816=)
c.1125G>C (p.Leu375=)
3g.38894647C>TCA433336033SCN11Ac.2721G>A (p.Leu907=)
c.2541G>A (p.Leu847=)
c.2765G>A (n.2765G>A)
c.2340G>A (p.Leu780=)
c.2058G>A (p.Leu686=)
c.1269G>A (p.Leu423=)
c.3096G>A (p.Leu1032=)
c.2523G>A (p.Leu841=)
c.2448G>A (p.Leu816=)
c.1125G>A (p.Leu375=)
3g.38894648A=CA1358718142SCN11Ac.2720T= (p.Leu907=)
c.2540T= (p.Leu847=)
c.2764T= (n.2764T=)
c.2339T= (p.Leu780=)
c.2057T= (p.Leu686=)
c.1268T= (p.Leu423=)
c.3095T= (p.Leu1032=)
c.2522T= (p.Leu841=)
c.2447T= (p.Leu816=)
c.1124T= (p.Leu375=)
3g.38894648A>CCA352174531SCN11Ac.2720T>G (p.Leu907Arg)
c.2540T>G (p.Leu847Arg)
c.2764T>G (n.2764T>G)
c.2339T>G (p.Leu780Arg)
c.2057T>G (p.Leu686Arg)
c.1268T>G (p.Leu423Arg)
c.3095T>G (p.Leu1032Arg)
c.2522T>G (p.Leu841Arg)
c.2447T>G (p.Leu816Arg)
c.1124T>G (p.Leu375Arg)
3g.38894648A>GCA352174532SCN11Ac.2720T>C (p.Leu907Pro)
c.2540T>C (p.Leu847Pro)
c.2764T>C (n.2764T>C)
c.2339T>C (p.Leu780Pro)
c.2057T>C (p.Leu686Pro)
c.1268T>C (p.Leu423Pro)
c.3095T>C (p.Leu1032Pro)
c.2522T>C (p.Leu841Pro)
c.2447T>C (p.Leu816Pro)
c.1124T>C (p.Leu375Pro)
3g.38894648A>TCA352174533SCN11Ac.2720T>A (p.Leu907Gln)
c.2540T>A (p.Leu847Gln)
c.2764T>A (n.2764T>A)
c.2339T>A (p.Leu780Gln)
c.2057T>A (p.Leu686Gln)
c.1268T>A (p.Leu423Gln)
c.3095T>A (p.Leu1032Gln)
c.2522T>A (p.Leu841Gln)
c.2447T>A (p.Leu816Gln)
c.1124T>A (p.Leu375Gln)
3g.38894648_38894658delinsAGGGTCTTTGGCA1358718143SCN11Ac.2710_2720delinsCCAAAGACCCT (p.Pro904=)
c.2530_2540delinsCCAAAGACCCT (p.Pro844=)
c.2754_2764delinsCCAAAGACCCT (n.2754_2764delinsCCAAAGACCCT)
c.2329_2339delinsCCAAAGACCCT (p.Pro777=)
c.2047_2057delinsCCAAAGACCCT (p.Pro683=)
c.1258_1268delinsCCAAAGACCCT (p.Pro420=)
c.3085_3095delinsCCAAAGACCCT (p.Pro1029=)
c.2512_2522delinsCCAAAGACCCT (p.Pro838=)
c.2437_2447delinsCCAAAGACCCT (p.Pro813=)
c.1114_1124delinsCCAAAGACCCT (p.Pro372=)
3g.38894649G>ACA433336034SCN11Ac.2719C>T (p.Leu907=)
c.2539C>T (p.Leu847=)
c.2763C>T (n.2763C>T)
c.2338C>T (p.Leu780=)
c.2056C>T (p.Leu686=)
c.1267C>T (p.Leu423=)
c.3094C>T (p.Leu1032=)
c.2521C>T (p.Leu841=)
c.2446C>T (p.Leu816=)
c.1123C>T (p.Leu375=)
 gnomAD v4
3g.38894649G>CCA352174534SCN11Ac.2719C>G (p.Leu907Val)
c.2539C>G (p.Leu847Val)
c.2763C>G (n.2763C>G)
c.2338C>G (p.Leu780Val)
c.2056C>G (p.Leu686Val)
c.1267C>G (p.Leu423Val)
c.3094C>G (p.Leu1032Val)
c.2521C>G (p.Leu841Val)
c.2446C>G (p.Leu816Val)
c.1123C>G (p.Leu375Val)
 gnomAD v4
3g.38894649G=CA1358718146SCN11Ac.2719C= (p.Leu907=)
c.2539C= (p.Leu847=)
c.2763C= (n.2763C=)
c.2338C= (p.Leu780=)
c.2056C= (p.Leu686=)
c.1267C= (p.Leu423=)
c.3094C= (p.Leu1032=)
c.2521C= (p.Leu841=)
c.2446C= (p.Leu816=)
c.1123C= (p.Leu375=)
3g.38894649G>TCA352174535SCN11Ac.2719C>A (p.Leu907Met)
c.2539C>A (p.Leu847Met)
c.2763C>A (n.2763C>A)
c.2338C>A (p.Leu780Met)
c.2056C>A (p.Leu686Met)
c.1267C>A (p.Leu423Met)
c.3094C>A (p.Leu1032Met)
c.2521C>A (p.Leu841Met)
c.2446C>A (p.Leu816Met)
c.1123C>A (p.Leu375Met)
3g.38894649_38894655dupCA1358718144SCN11Ac.2713_2719dup (p.Leu907GlnfsTer8)
c.2533_2539dup (p.Leu847GlnfsTer8)
c.2757_2763dup (n.2757_2763dup)
c.2332_2338dup (p.Leu780GlnfsTer8)
c.2050_2056dup (p.Leu686GlnfsTer8)
c.1261_1267dup (p.Leu423GlnfsTer8)
c.3088_3094dup (p.Leu1032GlnfsTer8)
c.2515_2521dup (p.Leu841GlnfsTer8)
c.2440_2446dup (p.Leu816GlnfsTer8)
c.1117_1123dup (p.Leu375GlnfsTer8)
 ClinVar dbSNP
3g.38894649_38894658delCA1358718145SCN11Ac.2710_2719del (p.Pro904TrpfsTer?)
c.2530_2539del (p.Pro844TrpfsTer?)
c.2754_2763del (n.2754_2763del)
c.2329_2338del (p.Pro777TrpfsTer?)
c.2047_2056del (p.Pro683TrpfsTer?)
c.1258_1267del (p.Pro420TrpfsTer?)
c.3085_3094del (p.Pro1029TrpfsTer?)
c.2512_2521del (p.Pro838TrpfsTer?)
c.2437_2446del (p.Pro813TrpfsTer?)
c.1114_1123del (p.Pro372TrpfsTer?)
 ClinVar dbSNP gnomAD v4
3g.38894650G>ACA433336035SCN11Ac.2718C>T (p.Thr906=)
c.2538C>T (p.Thr846=)
c.2762C>T (n.2762C>T)
c.2337C>T (p.Thr779=)
c.2055C>T (p.Thr685=)
c.1266C>T (p.Thr422=)
c.3093C>T (p.Thr1031=)
c.2520C>T (p.Thr840=)
c.2445C>T (p.Thr815=)
c.1122C>T (p.Thr374=)
 gnomAD v4
3g.38894650G>CCA433336036SCN11Ac.2718C>G (p.Thr906=)
c.2538C>G (p.Thr846=)
c.2762C>G (n.2762C>G)
c.2337C>G (p.Thr779=)
c.2055C>G (p.Thr685=)
c.1266C>G (p.Thr422=)
c.3093C>G (p.Thr1031=)
c.2520C>G (p.Thr840=)
c.2445C>G (p.Thr815=)
c.1122C>G (p.Thr374=)
3g.38894650G>TCA433336037SCN11Ac.2718C>A (p.Thr906=)
c.2538C>A (p.Thr846=)
c.2762C>A (n.2762C>A)
c.2337C>A (p.Thr779=)
c.2055C>A (p.Thr685=)
c.1266C>A (p.Thr422=)
c.3093C>A (p.Thr1031=)
c.2520C>A (p.Thr840=)
c.2445C>A (p.Thr815=)
c.1122C>A (p.Thr374=)
3g.38894650_38894651insAGGAGCTTGCA1358718147SCN11Ac.2718_2719insAAGCTCCTC (p.Thr906_Leu907insLysLeuLeu)
c.2538_2539insAAGCTCCTC (p.Thr846_Leu847insLysLeuLeu)
c.2762_2763insAAGCTCCTC (n.2762_2763insAAGCTCCTC)
c.2337_2338insAAGCTCCTC (p.Thr779_Leu780insLysLeuLeu)
c.2055_2056insAAGCTCCTC (p.Thr685_Leu686insLysLeuLeu)
c.1266_1267insAAGCTCCTC (p.Thr422_Leu423insLysLeuLeu)
c.3093_3094insAAGCTCCTC (p.Thr1031_Leu1032insLysLeuLeu)
c.2520_2521insAAGCTCCTC (p.Thr840_Leu841insLysLeuLeu)
c.2445_2446insAAGCTCCTC (p.Thr815_Leu816insLysLeuLeu)
c.1122_1123insAAGCTCCTC (p.Thr374_Leu375insLysLeuLeu)
 dbSNP
3g.38894651G>ACA72997427SCN11Ac.2717C>T (p.Thr906Ile)
c.2537C>T (p.Thr846Ile)
c.2761C>T (n.2761C>T)
c.2336C>T (p.Thr779Ile)
c.2054C>T (p.Thr685Ile)
c.1265C>T (p.Thr422Ile)
c.3092C>T (p.Thr1031Ile)
c.2519C>T (p.Thr840Ile)
c.2444C>T (p.Thr815Ile)
c.1121C>T (p.Thr374Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.38894651G>CCA352174536SCN11Ac.2717C>G (p.Thr906Ser)
c.2537C>G (p.Thr846Ser)
c.2761C>G (n.2761C>G)
c.2336C>G (p.Thr779Ser)
c.2054C>G (p.Thr685Ser)
c.1265C>G (p.Thr422Ser)
c.3092C>G (p.Thr1031Ser)
c.2519C>G (p.Thr840Ser)
c.2444C>G (p.Thr815Ser)
c.1121C>G (p.Thr374Ser)
3g.38894651G=CA1358718148SCN11Ac.2717C= (p.Thr906=)
c.2537C= (p.Thr846=)
c.2761C= (n.2761C=)
c.2336C= (p.Thr779=)
c.2054C= (p.Thr685=)
c.1265C= (p.Thr422=)
c.3092C= (p.Thr1031=)
c.2519C= (p.Thr840=)
c.2444C= (p.Thr815=)
c.1121C= (p.Thr374=)
3g.38894651G>TCA352174537SCN11Ac.2717C>A (p.Thr906Asn)
c.2537C>A (p.Thr846Asn)
c.2761C>A (n.2761C>A)
c.2336C>A (p.Thr779Asn)
c.2054C>A (p.Thr685Asn)
c.1265C>A (p.Thr422Asn)
c.3092C>A (p.Thr1031Asn)
c.2519C>A (p.Thr840Asn)
c.2444C>A (p.Thr815Asn)
c.1121C>A (p.Thr374Asn)
 gnomAD v4 COSMIC
3g.38894652T>ACA352174538SCN11Ac.2716A>T (p.Thr906Ser)
c.2536A>T (p.Thr846Ser)
c.2760A>T (n.2760A>T)
c.2335A>T (p.Thr779Ser)
c.2053A>T (p.Thr685Ser)
c.1264A>T (p.Thr422Ser)
c.3091A>T (p.Thr1031Ser)
c.2518A>T (p.Thr840Ser)
c.2443A>T (p.Thr815Ser)
c.1120A>T (p.Thr374Ser)
3g.38894652T>CCA352174539SCN11Ac.2716A>G (p.Thr906Ala)
c.2536A>G (p.Thr846Ala)
c.2760A>G (n.2760A>G)
c.2335A>G (p.Thr779Ala)
c.2053A>G (p.Thr685Ala)
c.1264A>G (p.Thr422Ala)
c.3091A>G (p.Thr1031Ala)
c.2518A>G (p.Thr840Ala)
c.2443A>G (p.Thr815Ala)
c.1120A>G (p.Thr374Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38894652T>GCA352174540SCN11Ac.2716A>C (p.Thr906Pro)
c.2536A>C (p.Thr846Pro)
c.2760A>C (n.2760A>C)
c.2335A>C (p.Thr779Pro)
c.2053A>C (p.Thr685Pro)
c.1264A>C (p.Thr422Pro)
c.3091A>C (p.Thr1031Pro)
c.2518A>C (p.Thr840Pro)
c.2443A>C (p.Thr815Pro)
c.1120A>C (p.Thr374Pro)
3g.38894652T=CA1358718149SCN11Ac.2716A= (p.Thr906=)
c.2536A= (p.Thr846=)
c.2760A= (n.2760A=)
c.2335A= (p.Thr779=)
c.2053A= (p.Thr685=)
c.1264A= (p.Thr422=)
c.3091A= (p.Thr1031=)
c.2518A= (p.Thr840=)
c.2443A= (p.Thr815=)
c.1120A= (p.Thr374=)
3g.38894652_38894653insATACA1358718150SCN11Ac.2715_2716insTAT (p.Lys905_Thr906insTyr)
c.2535_2536insTAT (p.Lys845_Thr846insTyr)
c.2759_2760insTAT (n.2759_2760insTAT)
c.2334_2335insTAT (p.Lys778_Thr779insTyr)
c.2052_2053insTAT (p.Lys684_Thr685insTyr)
c.1263_1264insTAT (p.Lys421_Thr422insTyr)
c.3090_3091insTAT (p.Lys1030_Thr1031insTyr)
c.2517_2518insTAT (p.Lys839_Thr840insTyr)
c.2442_2443insTAT (p.Lys814_Thr815insTyr)
c.1119_1120insTAT (p.Lys373_Thr374insTyr)
 dbSNP
3g.38894653C>ACA352174541SCN11Ac.2715G>T (p.Lys905Asn)
c.2535G>T (p.Lys845Asn)
c.2759G>T (n.2759G>T)
c.2334G>T (p.Lys778Asn)
c.2052G>T (p.Lys684Asn)
c.1263G>T (p.Lys421Asn)
c.3090G>T (p.Lys1030Asn)
c.2517G>T (p.Lys839Asn)
c.2442G>T (p.Lys814Asn)
c.1119G>T (p.Lys373Asn)
3g.38894653C=CA1358718151SCN11Ac.2715G= (p.Lys905=)
c.2535G= (p.Lys845=)
c.2759G= (n.2759G=)
c.2334G= (p.Lys778=)
c.2052G= (p.Lys684=)
c.1263G= (p.Lys421=)
c.3090G= (p.Lys1030=)
c.2517G= (p.Lys839=)
c.2442G= (p.Lys814=)
c.1119G= (p.Lys373=)
3g.38894653C>GCA352174542SCN11Ac.2715G>C (p.Lys905Asn)
c.2535G>C (p.Lys845Asn)
c.2759G>C (n.2759G>C)
c.2334G>C (p.Lys778Asn)
c.2052G>C (p.Lys684Asn)
c.1263G>C (p.Lys421Asn)
c.3090G>C (p.Lys1030Asn)
c.2517G>C (p.Lys839Asn)
c.2442G>C (p.Lys814Asn)
c.1119G>C (p.Lys373Asn)
3g.38894653C>TCA433336038SCN11Ac.2715G>A (p.Lys905=)
c.2535G>A (p.Lys845=)
c.2759G>A (n.2759G>A)
c.2334G>A (p.Lys778=)
c.2052G>A (p.Lys684=)
c.1263G>A (p.Lys421=)
c.3090G>A (p.Lys1030=)
c.2517G>A (p.Lys839=)
c.2442G>A (p.Lys814=)
c.1119G>A (p.Lys373=)
 COSMIC
3g.38894654T>ACA72997437SCN11Ac.2714A>T (p.Lys905Met)
c.2534A>T (p.Lys845Met)
c.2758A>T (n.2758A>T)
c.2333A>T (p.Lys778Met)
c.2051A>T (p.Lys684Met)
c.1262A>T (p.Lys421Met)
c.3089A>T (p.Lys1030Met)
c.2516A>T (p.Lys839Met)
c.2441A>T (p.Lys814Met)
c.1118A>T (p.Lys373Met)
 dbSNP gnomAD v4
3g.38894654T>CCA352174544SCN11Ac.2714A>G (p.Lys905Arg)
c.2534A>G (p.Lys845Arg)
c.2758A>G (n.2758A>G)
c.2333A>G (p.Lys778Arg)
c.2051A>G (p.Lys684Arg)
c.1262A>G (p.Lys421Arg)
c.3089A>G (p.Lys1030Arg)
c.2516A>G (p.Lys839Arg)
c.2441A>G (p.Lys814Arg)
c.1118A>G (p.Lys373Arg)
3g.38894654T>GCA352174543SCN11Ac.2714A>C (p.Lys905Thr)
c.2534A>C (p.Lys845Thr)
c.2758A>C (n.2758A>C)
c.2333A>C (p.Lys778Thr)
c.2051A>C (p.Lys684Thr)
c.1262A>C (p.Lys421Thr)
c.3089A>C (p.Lys1030Thr)
c.2516A>C (p.Lys839Thr)
c.2441A>C (p.Lys814Thr)
c.1118A>C (p.Lys373Thr)
3g.38894654T=CA1358718153SCN11Ac.2714A= (p.Lys905=)
c.2534A= (p.Lys845=)
c.2758A= (n.2758A=)
c.2333A= (p.Lys778=)
c.2051A= (p.Lys684=)
c.1262A= (p.Lys421=)
c.3089A= (p.Lys1030=)
c.2516A= (p.Lys839=)
c.2441A= (p.Lys814=)
c.1118A= (p.Lys373=)
3g.38894654_38894655insAACCTCTGTACCAAATCA1358718152SCN11Ac.2714_2715insTTTGGTACAGAGGTTA (p.Lys905AsnfsTer13)
c.2534_2535insTTTGGTACAGAGGTTA (p.Lys845AsnfsTer13)
c.2758_2759insTTTGGTACAGAGGTTA (n.2758_2759insTTTGGTACAGAGGTTA)
c.2333_2334insTTTGGTACAGAGGTTA (p.Lys778AsnfsTer13)
c.2051_2052insTTTGGTACAGAGGTTA (p.Lys684AsnfsTer13)
c.1262_1263insTTTGGTACAGAGGTTA (p.Lys421AsnfsTer13)
c.3089_3090insTTTGGTACAGAGGTTA (p.Lys1030AsnfsTer13)
c.2516_2517insTTTGGTACAGAGGTTA (p.Lys839AsnfsTer13)
c.2441_2442insTTTGGTACAGAGGTTA (p.Lys814AsnfsTer13)
c.1118_1119insTTTGGTACAGAGGTTA (p.Lys373AsnfsTer13)
 dbSNP
3g.38894655T>ACA352174545SCN11Ac.2713A>T (p.Lys905Ter)
c.2533A>T (p.Lys845Ter)
c.2757A>T (n.2757A>T)
c.2332A>T (p.Lys778Ter)
c.2050A>T (p.Lys684Ter)
c.1261A>T (p.Lys421Ter)
c.3088A>T (p.Lys1030Ter)
c.2515A>T (p.Lys839Ter)
c.2440A>T (p.Lys814Ter)
c.1117A>T (p.Lys373Ter)
 dbSNP
3g.38894655T>CCA352174546SCN11Ac.2713A>G (p.Lys905Glu)
c.2533A>G (p.Lys845Glu)
c.2757A>G (n.2757A>G)
c.2332A>G (p.Lys778Glu)
c.2050A>G (p.Lys684Glu)
c.1261A>G (p.Lys421Glu)
c.3088A>G (p.Lys1030Glu)
c.2515A>G (p.Lys839Glu)
c.2440A>G (p.Lys814Glu)
c.1117A>G (p.Lys373Glu)
3g.38894655T>GCA352174547SCN11Ac.2713A>C (p.Lys905Gln)
c.2533A>C (p.Lys845Gln)
c.2757A>C (n.2757A>C)
c.2332A>C (p.Lys778Gln)
c.2050A>C (p.Lys684Gln)
c.1261A>C (p.Lys421Gln)
c.3088A>C (p.Lys1030Gln)
c.2515A>C (p.Lys839Gln)
c.2440A>C (p.Lys814Gln)
c.1117A>C (p.Lys373Gln)
3g.38894655T=CA1358718154SCN11Ac.2713A= (p.Lys905=)
c.2533A= (p.Lys845=)
c.2757A= (n.2757A=)
c.2332A= (p.Lys778=)
c.2050A= (p.Lys684=)
c.1261A= (p.Lys421=)
c.3088A= (p.Lys1030=)
c.2515A= (p.Lys839=)
c.2440A= (p.Lys814=)
c.1117A= (p.Lys373=)
3g.38894656T>ACA433336039SCN11Ac.2712A>T (p.Pro904=)
c.2532A>T (p.Pro844=)
c.2756A>T (n.2756A>T)
c.2331A>T (p.Pro777=)
c.2049A>T (p.Pro683=)
c.1260A>T (p.Pro420=)
c.3087A>T (p.Pro1029=)
c.2514A>T (p.Pro838=)
c.2439A>T (p.Pro813=)
c.1116A>T (p.Pro372=)
3g.38894656T>CCA72997439SCN11Ac.2712A>G (p.Pro904=)
c.2532A>G (p.Pro844=)
c.2756A>G (n.2756A>G)
c.2331A>G (p.Pro777=)
c.2049A>G (p.Pro683=)
c.1260A>G (p.Pro420=)
c.3087A>G (p.Pro1029=)
c.2514A>G (p.Pro838=)
c.2439A>G (p.Pro813=)
c.1116A>G (p.Pro372=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38894656T>GCA433336040SCN11Ac.2712A>C (p.Pro904=)
c.2532A>C (p.Pro844=)
c.2756A>C (n.2756A>C)
c.2331A>C (p.Pro777=)
c.2049A>C (p.Pro683=)
c.1260A>C (p.Pro420=)
c.3087A>C (p.Pro1029=)
c.2514A>C (p.Pro838=)
c.2439A>C (p.Pro813=)
c.1116A>C (p.Pro372=)
3g.38894656T=CA1358718155SCN11Ac.2712A= (p.Pro904=)
c.2532A= (p.Pro844=)
c.2756A= (n.2756A=)
c.2331A= (p.Pro777=)
c.2049A= (p.Pro683=)
c.1260A= (p.Pro420=)
c.3087A= (p.Pro1029=)
c.2514A= (p.Pro838=)
c.2439A= (p.Pro813=)
c.1116A= (p.Pro372=)
3g.38894657G>ACA352174548SCN11Ac.2711C>T (p.Pro904Leu)
c.2531C>T (p.Pro844Leu)
c.2755C>T (n.2755C>T)
c.2330C>T (p.Pro777Leu)
c.2048C>T (p.Pro683Leu)
c.1259C>T (p.Pro420Leu)
c.3086C>T (p.Pro1029Leu)
c.2513C>T (p.Pro838Leu)
c.2438C>T (p.Pro813Leu)
c.1115C>T (p.Pro372Leu)
3g.38894657G>CCA352174549SCN11Ac.2711C>G (p.Pro904Arg)
c.2531C>G (p.Pro844Arg)
c.2755C>G (n.2755C>G)
c.2330C>G (p.Pro777Arg)
c.2048C>G (p.Pro683Arg)
c.1259C>G (p.Pro420Arg)
c.3086C>G (p.Pro1029Arg)
c.2513C>G (p.Pro838Arg)
c.2438C>G (p.Pro813Arg)
c.1115C>G (p.Pro372Arg)
3g.38894657G>TCA352174550SCN11Ac.2711C>A (p.Pro904Gln)
c.2531C>A (p.Pro844Gln)
c.2755C>A (n.2755C>A)
c.2330C>A (p.Pro777Gln)
c.2048C>A (p.Pro683Gln)
c.1259C>A (p.Pro420Gln)
c.3086C>A (p.Pro1029Gln)
c.2513C>A (p.Pro838Gln)
c.2438C>A (p.Pro813Gln)
c.1115C>A (p.Pro372Gln)
3g.38894658delCA2665127319SCN11Ac.2711del (p.Pro904GlnfsTer?)
c.2531del (p.Pro844GlnfsTer?)
c.2755del (n.2755del)
c.2330del (p.Pro777GlnfsTer?)
c.2048del (p.Pro683GlnfsTer?)
c.1259del (p.Pro420GlnfsTer?)
c.3086del (p.Pro1029GlnfsTer?)
c.2513del (p.Pro838GlnfsTer?)
c.2438del (p.Pro813GlnfsTer?)
c.1115del (p.Pro372GlnfsTer?)
 gnomAD v4
3g.38894658G>ACA352174551SCN11Ac.2710C>T (p.Pro904Ser)
c.2530C>T (p.Pro844Ser)
c.2754C>T (n.2754C>T)
c.2329C>T (p.Pro777Ser)
c.2047C>T (p.Pro683Ser)
c.1258C>T (p.Pro420Ser)
c.3085C>T (p.Pro1029Ser)
c.2512C>T (p.Pro838Ser)
c.2437C>T (p.Pro813Ser)
c.1114C>T (p.Pro372Ser)
3g.38894658G>CCA352174552SCN11Ac.2710C>G (p.Pro904Ala)
c.2530C>G (p.Pro844Ala)
c.2754C>G (n.2754C>G)
c.2329C>G (p.Pro777Ala)
c.2047C>G (p.Pro683Ala)
c.1258C>G (p.Pro420Ala)
c.3085C>G (p.Pro1029Ala)
c.2512C>G (p.Pro838Ala)
c.2437C>G (p.Pro813Ala)
c.1114C>G (p.Pro372Ala)
3g.38894658G>TCA352174553SCN11Ac.2710C>A (p.Pro904Thr)
c.2530C>A (p.Pro844Thr)
c.2754C>A (n.2754C>A)
c.2329C>A (p.Pro777Thr)
c.2047C>A (p.Pro683Thr)
c.1258C>A (p.Pro420Thr)
c.3085C>A (p.Pro1029Thr)
c.2512C>A (p.Pro838Thr)
c.2437C>A (p.Pro813Thr)
c.1114C>A (p.Pro372Thr)
3g.38894659T>ACA433336041SCN11Ac.2709A>T (p.Val903=)
c.2529A>T (p.Val843=)
c.2753A>T (n.2753A>T)
c.2328A>T (p.Val776=)
c.2046A>T (p.Val682=)
c.1257A>T (p.Val419=)
c.3084A>T (p.Val1028=)
c.2511A>T (p.Val837=)
c.2436A>T (p.Val812=)
c.1113A>T (p.Val371=)
3g.38894659T>CCA433336042SCN11Ac.2709A>G (p.Val903=)
c.2529A>G (p.Val843=)
c.2753A>G (n.2753A>G)
c.2328A>G (p.Val776=)
c.2046A>G (p.Val682=)
c.1257A>G (p.Val419=)
c.3084A>G (p.Val1028=)
c.2511A>G (p.Val837=)
c.2436A>G (p.Val812=)
c.1113A>G (p.Val371=)
3g.38894659T>GCA433336043SCN11Ac.2709A>C (p.Val903=)
c.2529A>C (p.Val843=)
c.2753A>C (n.2753A>C)
c.2328A>C (p.Val776=)
c.2046A>C (p.Val682=)
c.1257A>C (p.Val419=)
c.3084A>C (p.Val1028=)
c.2511A>C (p.Val837=)
c.2436A>C (p.Val812=)
c.1113A>C (p.Val371=)
3g.38894660A>CCA352174556SCN11Ac.2708T>G (p.Val903Gly)
c.2528T>G (p.Val843Gly)
c.2752T>G (n.2752T>G)
c.2327T>G (p.Val776Gly)
c.2045T>G (p.Val682Gly)
c.1256T>G (p.Val419Gly)
c.3083T>G (p.Val1028Gly)
c.2510T>G (p.Val837Gly)
c.2435T>G (p.Val812Gly)
c.1112T>G (p.Val371Gly)
3g.38894660A>GCA352174555SCN11Ac.2708T>C (p.Val903Ala)
c.2528T>C (p.Val843Ala)
c.2752T>C (n.2752T>C)
c.2327T>C (p.Val776Ala)
c.2045T>C (p.Val682Ala)
c.1256T>C (p.Val419Ala)
c.3083T>C (p.Val1028Ala)
c.2510T>C (p.Val837Ala)
c.2435T>C (p.Val812Ala)
c.1112T>C (p.Val371Ala)
3g.38894660A>TCA352174554SCN11Ac.2708T>A (p.Val903Glu)
c.2528T>A (p.Val843Glu)
c.2752T>A (n.2752T>A)
c.2327T>A (p.Val776Glu)
c.2045T>A (p.Val682Glu)
c.1256T>A (p.Val419Glu)
c.3083T>A (p.Val1028Glu)
c.2510T>A (p.Val837Glu)
c.2435T>A (p.Val812Glu)
c.1112T>A (p.Val371Glu)
3g.38894661C>ACA352174557SCN11Ac.2707G>T (p.Val903Leu)
c.2527G>T (p.Val843Leu)
c.2751G>T (n.2751G>T)
c.2326G>T (p.Val776Leu)
c.2044G>T (p.Val682Leu)
c.1255G>T (p.Val419Leu)
c.3082G>T (p.Val1028Leu)
c.2509G>T (p.Val837Leu)
c.2434G>T (p.Val812Leu)
c.1111G>T (p.Val371Leu)
3g.38894661C>GCA352174558SCN11Ac.2707G>C (p.Val903Leu)
c.2527G>C (p.Val843Leu)
c.2751G>C (n.2751G>C)
c.2326G>C (p.Val776Leu)
c.2044G>C (p.Val682Leu)
c.1255G>C (p.Val419Leu)
c.3082G>C (p.Val1028Leu)
c.2509G>C (p.Val837Leu)
c.2434G>C (p.Val812Leu)
c.1111G>C (p.Val371Leu)
3g.38894661C>TCA352174559SCN11Ac.2707G>A (p.Val903Ile)
c.2527G>A (p.Val843Ile)
c.2751G>A (n.2751G>A)
c.2326G>A (p.Val776Ile)
c.2044G>A (p.Val682Ile)
c.1255G>A (p.Val419Ile)
c.3082G>A (p.Val1028Ile)
c.2509G>A (p.Val837Ile)
c.2434G>A (p.Val812Ile)
c.1111G>A (p.Val371Ile)
3g.38894662A>CCA433336044SCN11Ac.2706T>G (p.Ser902=)
c.2526T>G (p.Ser842=)
c.2750T>G (n.2750T>G)
c.2325T>G (p.Ser775=)
c.2043T>G (p.Ser681=)
c.1254T>G (p.Ser418=)
c.3081T>G (p.Ser1027=)
c.2508T>G (p.Ser836=)
c.2433T>G (p.Ser811=)
c.1110T>G (p.Ser370=)
3g.38894662A>GCA433336045SCN11Ac.2706T>C (p.Ser902=)
c.2526T>C (p.Ser842=)
c.2750T>C (n.2750T>C)
c.2325T>C (p.Ser775=)
c.2043T>C (p.Ser681=)
c.1254T>C (p.Ser418=)
c.3081T>C (p.Ser1027=)
c.2508T>C (p.Ser836=)
c.2433T>C (p.Ser811=)
c.1110T>C (p.Ser370=)
 gnomAD v4
3g.38894662A>TCA433336046SCN11Ac.2706T>A (p.Ser902=)
c.2526T>A (p.Ser842=)
c.2750T>A (n.2750T>A)
c.2325T>A (p.Ser775=)
c.2043T>A (p.Ser681=)
c.1254T>A (p.Ser418=)
c.3081T>A (p.Ser1027=)
c.2508T>A (p.Ser836=)
c.2433T>A (p.Ser811=)
c.1110T>A (p.Ser370=)
3g.38894663G>ACA352174560SCN11Ac.2705C>T (p.Ser902Phe)
c.2525C>T (p.Ser842Phe)
c.2749C>T (n.2749C>T)
c.2324C>T (p.Ser775Phe)
c.2042C>T (p.Ser681Phe)
c.1253C>T (p.Ser418Phe)
c.3080C>T (p.Ser1027Phe)
c.2507C>T (p.Ser836Phe)
c.2432C>T (p.Ser811Phe)
c.1109C>T (p.Ser370Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894663G>CCA352174561SCN11Ac.2705C>G (p.Ser902Cys)
c.2525C>G (p.Ser842Cys)
c.2749C>G (n.2749C>G)
c.2324C>G (p.Ser775Cys)
c.2042C>G (p.Ser681Cys)
c.1253C>G (p.Ser418Cys)
c.3080C>G (p.Ser1027Cys)
c.2507C>G (p.Ser836Cys)
c.2432C>G (p.Ser811Cys)
c.1109C>G (p.Ser370Cys)
3g.38894663G=CA1358718156SCN11Ac.2705C= (p.Ser902=)
c.2525C= (p.Ser842=)
c.2749C= (n.2749C=)
c.2324C= (p.Ser775=)
c.2042C= (p.Ser681=)
c.1253C= (p.Ser418=)
c.3080C= (p.Ser1027=)
c.2507C= (p.Ser836=)
c.2432C= (p.Ser811=)
c.1109C= (p.Ser370=)
3g.38894663G>TCA2321987SCN11Ac.2705C>A (p.Ser902Tyr)
c.2525C>A (p.Ser842Tyr)
c.2749C>A (n.2749C>A)
c.2324C>A (p.Ser775Tyr)
c.2042C>A (p.Ser681Tyr)
c.1253C>A (p.Ser418Tyr)
c.3080C>A (p.Ser1027Tyr)
c.2507C>A (p.Ser836Tyr)
c.2432C>A (p.Ser811Tyr)
c.1109C>A (p.Ser370Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894664A=CA1358718157SCN11Ac.2704T= (p.Ser902=)
c.2524T= (p.Ser842=)
c.2748T= (n.2748T=)
c.2323T= (p.Ser775=)
c.2041T= (p.Ser681=)
c.1252T= (p.Ser418=)
c.3079T= (p.Ser1027=)
c.2506T= (p.Ser836=)
c.2431T= (p.Ser811=)
c.1108T= (p.Ser370=)
3g.38894664A>CCA352174564SCN11Ac.2704T>G (p.Ser902Ala)
c.2524T>G (p.Ser842Ala)
c.2748T>G (n.2748T>G)
c.2323T>G (p.Ser775Ala)
c.2041T>G (p.Ser681Ala)
c.1252T>G (p.Ser418Ala)
c.3079T>G (p.Ser1027Ala)
c.2506T>G (p.Ser836Ala)
c.2431T>G (p.Ser811Ala)
c.1108T>G (p.Ser370Ala)
3g.38894664A>GCA352174563SCN11Ac.2704T>C (p.Ser902Pro)
c.2524T>C (p.Ser842Pro)
c.2748T>C (n.2748T>C)
c.2323T>C (p.Ser775Pro)
c.2041T>C (p.Ser681Pro)
c.1252T>C (p.Ser418Pro)
c.3079T>C (p.Ser1027Pro)
c.2506T>C (p.Ser836Pro)
c.2431T>C (p.Ser811Pro)
c.1108T>C (p.Ser370Pro)
 dbSNP
3g.38894664A>TCA352174562SCN11Ac.2704T>A (p.Ser902Thr)
c.2524T>A (p.Ser842Thr)
c.2748T>A (n.2748T>A)
c.2323T>A (p.Ser775Thr)
c.2041T>A (p.Ser681Thr)
c.1252T>A (p.Ser418Thr)
c.3079T>A (p.Ser1027Thr)
c.2506T>A (p.Ser836Thr)
c.2431T>A (p.Ser811Thr)
c.1108T>A (p.Ser370Thr)
 dbSNP
3g.38894665G>ACA2321988SCN11Ac.2703C>T (p.Thr901=)
c.2523C>T (p.Thr841=)
c.2747C>T (n.2747C>T)
c.2322C>T (p.Thr774=)
c.2040C>T (p.Thr680=)
c.1251C>T (p.Thr417=)
c.3078C>T (p.Thr1026=)
c.2505C>T (p.Thr835=)
c.2430C>T (p.Thr810=)
c.1107C>T (p.Thr369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894665G>CCA433336047SCN11Ac.2703C>G (p.Thr901=)
c.2523C>G (p.Thr841=)
c.2747C>G (n.2747C>G)
c.2322C>G (p.Thr774=)
c.2040C>G (p.Thr680=)
c.1251C>G (p.Thr417=)
c.3078C>G (p.Thr1026=)
c.2505C>G (p.Thr835=)
c.2430C>G (p.Thr810=)
c.1107C>G (p.Thr369=)
3g.38894665G=CA1358718158SCN11Ac.2703C= (p.Thr901=)
c.2523C= (p.Thr841=)
c.2747C= (n.2747C=)
c.2322C= (p.Thr774=)
c.2040C= (p.Thr680=)
c.1251C= (p.Thr417=)
c.3078C= (p.Thr1026=)
c.2505C= (p.Thr835=)
c.2430C= (p.Thr810=)
c.1107C= (p.Thr369=)
3g.38894665G>TCA433336048SCN11Ac.2703C>A (p.Thr901=)
c.2523C>A (p.Thr841=)
c.2747C>A (n.2747C>A)
c.2322C>A (p.Thr774=)
c.2040C>A (p.Thr680=)
c.1251C>A (p.Thr417=)
c.3078C>A (p.Thr1026=)
c.2505C>A (p.Thr835=)
c.2430C>A (p.Thr810=)
c.1107C>A (p.Thr369=)
 gnomAD v4
3g.38894666G>ACA352174565SCN11Ac.2702C>T (p.Thr901Ile)
c.2522C>T (p.Thr841Ile)
c.2746C>T (n.2746C>T)
c.2321C>T (p.Thr774Ile)
c.2039C>T (p.Thr680Ile)
c.1250C>T (p.Thr417Ile)
c.3077C>T (p.Thr1026Ile)
c.2504C>T (p.Thr835Ile)
c.2429C>T (p.Thr810Ile)
c.1106C>T (p.Thr369Ile)
 gnomAD v4
3g.38894666G>CCA352174566SCN11Ac.2702C>G (p.Thr901Ser)
c.2522C>G (p.Thr841Ser)
c.2746C>G (n.2746C>G)
c.2321C>G (p.Thr774Ser)
c.2039C>G (p.Thr680Ser)
c.1250C>G (p.Thr417Ser)
c.3077C>G (p.Thr1026Ser)
c.2504C>G (p.Thr835Ser)
c.2429C>G (p.Thr810Ser)
c.1106C>G (p.Thr369Ser)
3g.38894666G=CA1358718159SCN11Ac.2702C= (p.Thr901=)
c.2522C= (p.Thr841=)
c.2746C= (n.2746C=)
c.2321C= (p.Thr774=)
c.2039C= (p.Thr680=)
c.1250C= (p.Thr417=)
c.3077C= (p.Thr1026=)
c.2504C= (p.Thr835=)
c.2429C= (p.Thr810=)
c.1106C= (p.Thr369=)
3g.38894666G>TCA352174567SCN11Ac.2702C>A (p.Thr901Asn)
c.2522C>A (p.Thr841Asn)
c.2746C>A (n.2746C>A)
c.2321C>A (p.Thr774Asn)
c.2039C>A (p.Thr680Asn)
c.1250C>A (p.Thr417Asn)
c.3077C>A (p.Thr1026Asn)
c.2504C>A (p.Thr835Asn)
c.2429C>A (p.Thr810Asn)
c.1106C>A (p.Thr369Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38894667T>ACA352174568SCN11Ac.2701A>T (p.Thr901Ser)
c.2521A>T (p.Thr841Ser)
c.2745A>T (n.2745A>T)
c.2320A>T (p.Thr774Ser)
c.2038A>T (p.Thr680Ser)
c.1249A>T (p.Thr417Ser)
c.3076A>T (p.Thr1026Ser)
c.2503A>T (p.Thr835Ser)
c.2428A>T (p.Thr810Ser)
c.1105A>T (p.Thr369Ser)
3g.38894667T>CCA352174569SCN11Ac.2701A>G (p.Thr901Ala)
c.2521A>G (p.Thr841Ala)
c.2745A>G (n.2745A>G)
c.2320A>G (p.Thr774Ala)
c.2038A>G (p.Thr680Ala)
c.1249A>G (p.Thr417Ala)
c.3076A>G (p.Thr1026Ala)
c.2503A>G (p.Thr835Ala)
c.2428A>G (p.Thr810Ala)
c.1105A>G (p.Thr369Ala)
3g.38894667T>GCA352174570SCN11Ac.2701A>C (p.Thr901Pro)
c.2521A>C (p.Thr841Pro)
c.2745A>C (n.2745A>C)
c.2320A>C (p.Thr774Pro)
c.2038A>C (p.Thr680Pro)
c.1249A>C (p.Thr417Pro)
c.3076A>C (p.Thr1026Pro)
c.2503A>C (p.Thr835Pro)
c.2428A>C (p.Thr810Pro)
c.1105A>C (p.Thr369Pro)
 dbSNP gnomAD v4
3g.38894667T=CA1358718160SCN11Ac.2701A= (p.Thr901=)
c.2521A= (p.Thr841=)
c.2745A= (n.2745A=)
c.2320A= (p.Thr774=)
c.2038A= (p.Thr680=)
c.1249A= (p.Thr417=)
c.3076A= (p.Thr1026=)
c.2503A= (p.Thr835=)
c.2428A= (p.Thr810=)
c.1105A= (p.Thr369=)
3g.38894668T>ACA433336049SCN11Ac.2700A>T (p.Leu900=)
c.2520A>T (p.Leu840=)
c.2744A>T (n.2744A>T)
c.2319A>T (p.Leu773=)
c.2037A>T (p.Leu679=)
c.1248A>T (p.Leu416=)
c.3075A>T (p.Leu1025=)
c.2502A>T (p.Leu834=)
c.2427A>T (p.Leu809=)
c.1104A>T (p.Leu368=)
3g.38894668T>CCA433336050SCN11Ac.2700A>G (p.Leu900=)
c.2520A>G (p.Leu840=)
c.2744A>G (n.2744A>G)
c.2319A>G (p.Leu773=)
c.2037A>G (p.Leu679=)
c.1248A>G (p.Leu416=)
c.3075A>G (p.Leu1025=)
c.2502A>G (p.Leu834=)
c.2427A>G (p.Leu809=)
c.1104A>G (p.Leu368=)
3g.38894668T>GCA433336051SCN11Ac.2700A>C (p.Leu900=)
c.2520A>C (p.Leu840=)
c.2744A>C (n.2744A>C)
c.2319A>C (p.Leu773=)
c.2037A>C (p.Leu679=)
c.1248A>C (p.Leu416=)
c.3075A>C (p.Leu1025=)
c.2502A>C (p.Leu834=)
c.2427A>C (p.Leu809=)
c.1104A>C (p.Leu368=)
3g.38894669A>CCA352174571SCN11Ac.2699T>G (p.Leu900Arg)
c.2519T>G (p.Leu840Arg)
c.2743T>G (n.2743T>G)
c.2318T>G (p.Leu773Arg)
c.2036T>G (p.Leu679Arg)
c.1247T>G (p.Leu416Arg)
c.3074T>G (p.Leu1025Arg)
c.2501T>G (p.Leu834Arg)
c.2426T>G (p.Leu809Arg)
c.1103T>G (p.Leu368Arg)
3g.38894669A>GCA352174573SCN11Ac.2699T>C (p.Leu900Pro)
c.2519T>C (p.Leu840Pro)
c.2743T>C (n.2743T>C)
c.2318T>C (p.Leu773Pro)
c.2036T>C (p.Leu679Pro)
c.1247T>C (p.Leu416Pro)
c.3074T>C (p.Leu1025Pro)
c.2501T>C (p.Leu834Pro)
c.2426T>C (p.Leu809Pro)
c.1103T>C (p.Leu368Pro)
 gnomAD v4
3g.38894669A>TCA352174572SCN11Ac.2699T>A (p.Leu900Gln)
c.2519T>A (p.Leu840Gln)
c.2743T>A (n.2743T>A)
c.2318T>A (p.Leu773Gln)
c.2036T>A (p.Leu679Gln)
c.1247T>A (p.Leu416Gln)
c.3074T>A (p.Leu1025Gln)
c.2501T>A (p.Leu834Gln)
c.2426T>A (p.Leu809Gln)
c.1103T>A (p.Leu368Gln)
3g.38894670G>ACA433336052SCN11Ac.2698C>T (p.Leu900=)
c.2518C>T (p.Leu840=)
c.2742C>T (n.2742C>T)
c.2317C>T (p.Leu773=)
c.2035C>T (p.Leu679=)
c.1246C>T (p.Leu416=)
c.3073C>T (p.Leu1025=)
c.2500C>T (p.Leu834=)
c.2425C>T (p.Leu809=)
c.1102C>T (p.Leu368=)
3g.38894670G>CCA352174574SCN11Ac.2698C>G (p.Leu900Val)
c.2518C>G (p.Leu840Val)
c.2742C>G (n.2742C>G)
c.2317C>G (p.Leu773Val)
c.2035C>G (p.Leu679Val)
c.1246C>G (p.Leu416Val)
c.3073C>G (p.Leu1025Val)
c.2500C>G (p.Leu834Val)
c.2425C>G (p.Leu809Val)
c.1102C>G (p.Leu368Val)
3g.38894670G>TCA352174575SCN11Ac.2698C>A (p.Leu900Ile)
c.2518C>A (p.Leu840Ile)
c.2742C>A (n.2742C>A)
c.2317C>A (p.Leu773Ile)
c.2035C>A (p.Leu679Ile)
c.1246C>A (p.Leu416Ile)
c.3073C>A (p.Leu1025Ile)
c.2500C>A (p.Leu834Ile)
c.2425C>A (p.Leu809Ile)
c.1102C>A (p.Leu368Ile)
3g.38894671T>ACA433336053SCN11Ac.2697A>T (p.Ile899=)
c.2517A>T (p.Ile839=)
c.2741A>T (n.2741A>T)
c.2316A>T (p.Ile772=)
c.2034A>T (p.Ile678=)
c.1245A>T (p.Ile415=)
c.3072A>T (p.Ile1024=)
c.2499A>T (p.Ile833=)
c.2424A>T (p.Ile808=)
c.1101A>T (p.Ile367=)
 gnomAD v4
3g.38894671T>CCA352174576SCN11Ac.2697A>G (p.Ile899Met)
c.2517A>G (p.Ile839Met)
c.2741A>G (n.2741A>G)
c.2316A>G (p.Ile772Met)
c.2034A>G (p.Ile678Met)
c.1245A>G (p.Ile415Met)
c.3072A>G (p.Ile1024Met)
c.2499A>G (p.Ile833Met)
c.2424A>G (p.Ile808Met)
c.1101A>G (p.Ile367Met)
 dbSNP
3g.38894671T>GCA433336054SCN11Ac.2697A>C (p.Ile899=)
c.2517A>C (p.Ile839=)
c.2741A>C (n.2741A>C)
c.2316A>C (p.Ile772=)
c.2034A>C (p.Ile678=)
c.1245A>C (p.Ile415=)
c.3072A>C (p.Ile1024=)
c.2499A>C (p.Ile833=)
c.2424A>C (p.Ile808=)
c.1101A>C (p.Ile367=)
3g.38894671T=CA1358718161SCN11Ac.2697A= (p.Ile899=)
c.2517A= (p.Ile839=)
c.2741A= (n.2741A=)
c.2316A= (p.Ile772=)
c.2034A= (p.Ile678=)
c.1245A= (p.Ile415=)
c.3072A= (p.Ile1024=)
c.2499A= (p.Ile833=)
c.2424A= (p.Ile808=)
c.1101A= (p.Ile367=)
3g.38894672A>CCA352174577SCN11Ac.2696T>G (p.Ile899Arg)
c.2516T>G (p.Ile839Arg)
c.2740T>G (n.2740T>G)
c.2315T>G (p.Ile772Arg)
c.2033T>G (p.Ile678Arg)
c.1244T>G (p.Ile415Arg)
c.3071T>G (p.Ile1024Arg)
c.2498T>G (p.Ile833Arg)
c.2423T>G (p.Ile808Arg)
c.1100T>G (p.Ile367Arg)
3g.38894672A>GCA352174578SCN11Ac.2696T>C (p.Ile899Thr)
c.2516T>C (p.Ile839Thr)
c.2740T>C (n.2740T>C)
c.2315T>C (p.Ile772Thr)
c.2033T>C (p.Ile678Thr)
c.1244T>C (p.Ile415Thr)
c.3071T>C (p.Ile1024Thr)
c.2498T>C (p.Ile833Thr)
c.2423T>C (p.Ile808Thr)
c.1100T>C (p.Ile367Thr)
3g.38894672A>TCA352174579SCN11Ac.2696T>A (p.Ile899Lys)
c.2516T>A (p.Ile839Lys)
c.2740T>A (n.2740T>A)
c.2315T>A (p.Ile772Lys)
c.2033T>A (p.Ile678Lys)
c.1244T>A (p.Ile415Lys)
c.3071T>A (p.Ile1024Lys)
c.2498T>A (p.Ile833Lys)
c.2423T>A (p.Ile808Lys)
c.1100T>A (p.Ile367Lys)
3g.38894672_38894673delinsATCA1358718162SCN11Ac.2695_2696delinsAT (p.Ile899=)
c.2515_2516delinsAT (p.Ile839=)
c.2739_2740delinsAT (n.2739_2740delinsAT)
c.2314_2315delinsAT (p.Ile772=)
c.2032_2033delinsAT (p.Ile678=)
c.1243_1244delinsAT (p.Ile415=)
c.3070_3071delinsAT (p.Ile1024=)
c.2497_2498delinsAT (p.Ile833=)
c.2422_2423delinsAT (p.Ile808=)
c.1099_1100delinsAT (p.Ile367=)
3g.38894673delCA16617959SCN11Ac.2695del (p.Ile899TyrfsTer2)
c.2515del (p.Ile839TyrfsTer2)
c.2739del (n.2739del)
c.2314del (p.Ile772TyrfsTer2)
c.2032del (p.Ile678TyrfsTer2)
c.1243del (p.Ile415TyrfsTer2)
c.3070del (p.Ile1024TyrfsTer2)
c.2497del (p.Ile833TyrfsTer2)
c.2422del (p.Ile808TyrfsTer2)
c.1099del (p.Ile367TyrfsTer2)
 ClinVar dbSNP gnomAD v4
3g.38894673T>ACA352174580SCN11Ac.2695A>T (p.Ile899Leu)
c.2515A>T (p.Ile839Leu)
c.2739A>T (n.2739A>T)
c.2314A>T (p.Ile772Leu)
c.2032A>T (p.Ile678Leu)
c.1243A>T (p.Ile415Leu)
c.3070A>T (p.Ile1024Leu)
c.2497A>T (p.Ile833Leu)
c.2422A>T (p.Ile808Leu)
c.1099A>T (p.Ile367Leu)
3g.38894673T>CCA2321989SCN11Ac.2695A>G (p.Ile899Val)
c.2515A>G (p.Ile839Val)
c.2739A>G (n.2739A>G)
c.2314A>G (p.Ile772Val)
c.2032A>G (p.Ile678Val)
c.1243A>G (p.Ile415Val)
c.3070A>G (p.Ile1024Val)
c.2497A>G (p.Ile833Val)
c.2422A>G (p.Ile808Val)
c.1099A>G (p.Ile367Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894673T>GCA352174581SCN11Ac.2695A>C (p.Ile899Leu)
c.2515A>C (p.Ile839Leu)
c.2739A>C (n.2739A>C)
c.2314A>C (p.Ile772Leu)
c.2032A>C (p.Ile678Leu)
c.1243A>C (p.Ile415Leu)
c.3070A>C (p.Ile1024Leu)
c.2497A>C (p.Ile833Leu)
c.2422A>C (p.Ile808Leu)
c.1099A>C (p.Ile367Leu)
3g.38894673T=CA1358718163SCN11Ac.2695A= (p.Ile899=)
c.2515A= (p.Ile839=)
c.2739A= (n.2739A=)
c.2314A= (p.Ile772=)
c.2032A= (p.Ile678=)
c.1243A= (p.Ile415=)
c.3070A= (p.Ile1024=)
c.2497A= (p.Ile833=)
c.2422A= (p.Ile808=)
c.1099A= (p.Ile367=)
3g.38894674A>CCA433336055SCN11Ac.2694T>G (p.Gly898=)
c.2514T>G (p.Gly838=)
c.2738T>G (n.2738T>G)
c.2313T>G (p.Gly771=)
c.2031T>G (p.Gly677=)
c.1242T>G (p.Gly414=)
c.3069T>G (p.Gly1023=)
c.2496T>G (p.Gly832=)
c.2421T>G (p.Gly807=)
c.1098T>G (p.Gly366=)
3g.38894674A>GCA433336056SCN11Ac.2694T>C (p.Gly898=)
c.2514T>C (p.Gly838=)
c.2738T>C (n.2738T>C)
c.2313T>C (p.Gly771=)
c.2031T>C (p.Gly677=)
c.1242T>C (p.Gly414=)
c.3069T>C (p.Gly1023=)
c.2496T>C (p.Gly832=)
c.2421T>C (p.Gly807=)
c.1098T>C (p.Gly366=)
3g.38894674A>TCA433336057SCN11Ac.2694T>A (p.Gly898=)
c.2514T>A (p.Gly838=)
c.2738T>A (n.2738T>A)
c.2313T>A (p.Gly771=)
c.2031T>A (p.Gly677=)
c.1242T>A (p.Gly414=)
c.3069T>A (p.Gly1023=)
c.2496T>A (p.Gly832=)
c.2421T>A (p.Gly807=)
c.1098T>A (p.Gly366=)
3g.38894675C>ACA352174582SCN11Ac.2693G>T (p.Gly898Val)
c.2513G>T (p.Gly838Val)
c.2737G>T (n.2737G>T)
c.2312G>T (p.Gly771Val)
c.2030G>T (p.Gly677Val)
c.1241G>T (p.Gly414Val)
c.3068G>T (p.Gly1023Val)
c.2495G>T (p.Gly832Val)
c.2420G>T (p.Gly807Val)
c.1097G>T (p.Gly366Val)
3g.38894675C=CA1358718164SCN11Ac.2693G= (p.Gly898=)
c.2513G= (p.Gly838=)
c.2737G= (n.2737G=)
c.2312G= (p.Gly771=)
c.2030G= (p.Gly677=)
c.1241G= (p.Gly414=)
c.3068G= (p.Gly1023=)
c.2495G= (p.Gly832=)
c.2420G= (p.Gly807=)
c.1097G= (p.Gly366=)
3g.38894675C>GCA352174583SCN11Ac.2693G>C (p.Gly898Ala)
c.2513G>C (p.Gly838Ala)
c.2737G>C (n.2737G>C)
c.2312G>C (p.Gly771Ala)
c.2030G>C (p.Gly677Ala)
c.1241G>C (p.Gly414Ala)
c.3068G>C (p.Gly1023Ala)
c.2495G>C (p.Gly832Ala)
c.2420G>C (p.Gly807Ala)
c.1097G>C (p.Gly366Ala)
3g.38894675C>TCA352174584SCN11Ac.2693G>A (p.Gly898Asp)
c.2513G>A (p.Gly838Asp)
c.2737G>A (n.2737G>A)
c.2312G>A (p.Gly771Asp)
c.2030G>A (p.Gly677Asp)
c.1241G>A (p.Gly414Asp)
c.3068G>A (p.Gly1023Asp)
c.2495G>A (p.Gly832Asp)
c.2420G>A (p.Gly807Asp)
c.1097G>A (p.Gly366Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38894676C>ACA352174585SCN11Ac.2692G>T (p.Gly898Cys)
c.2512G>T (p.Gly838Cys)
c.2736G>T (n.2736G>T)
c.2311G>T (p.Gly771Cys)
c.2029G>T (p.Gly677Cys)
c.1240G>T (p.Gly414Cys)
c.3067G>T (p.Gly1023Cys)
c.2494G>T (p.Gly832Cys)
c.2419G>T (p.Gly807Cys)
c.1096G>T (p.Gly366Cys)
3g.38894676C>GCA352174587SCN11Ac.2692G>C (p.Gly898Arg)
c.2512G>C (p.Gly838Arg)
c.2736G>C (n.2736G>C)
c.2311G>C (p.Gly771Arg)
c.2029G>C (p.Gly677Arg)
c.1240G>C (p.Gly414Arg)
c.3067G>C (p.Gly1023Arg)
c.2494G>C (p.Gly832Arg)
c.2419G>C (p.Gly807Arg)
c.1096G>C (p.Gly366Arg)
3g.38894676C>TCA352174586SCN11Ac.2692G>A (p.Gly898Ser)
c.2512G>A (p.Gly838Ser)
c.2736G>A (n.2736G>A)
c.2311G>A (p.Gly771Ser)
c.2029G>A (p.Gly677Ser)
c.1240G>A (p.Gly414Ser)
c.3067G>A (p.Gly1023Ser)
c.2494G>A (p.Gly832Ser)
c.2419G>A (p.Gly807Ser)
c.1096G>A (p.Gly366Ser)
3g.38894677A>CCA433336060SCN11Ac.2691T>G (p.Leu897=)
c.2511T>G (p.Leu837=)
c.2735T>G (n.2735T>G)
c.2310T>G (p.Leu770=)
c.2028T>G (p.Leu676=)
c.1239T>G (p.Leu413=)
c.3066T>G (p.Leu1022=)
c.2493T>G (p.Leu831=)
c.2418T>G (p.Leu806=)
c.1095T>G (p.Leu365=)
3g.38894677A>GCA433336059SCN11Ac.2691T>C (p.Leu897=)
c.2511T>C (p.Leu837=)
c.2735T>C (n.2735T>C)
c.2310T>C (p.Leu770=)
c.2028T>C (p.Leu676=)
c.1239T>C (p.Leu413=)
c.3066T>C (p.Leu1022=)
c.2493T>C (p.Leu831=)
c.2418T>C (p.Leu806=)
c.1095T>C (p.Leu365=)
3g.38894677A>TCA433336058SCN11Ac.2691T>A (p.Leu897=)
c.2511T>A (p.Leu837=)
c.2735T>A (n.2735T>A)
c.2310T>A (p.Leu770=)
c.2028T>A (p.Leu676=)
c.1239T>A (p.Leu413=)
c.3066T>A (p.Leu1022=)
c.2493T>A (p.Leu831=)
c.2418T>A (p.Leu806=)
c.1095T>A (p.Leu365=)
3g.38894678A=CA1358718165SCN11Ac.2690T= (p.Leu897=)
c.2510T= (p.Leu837=)
c.2734T= (n.2734T=)
c.2309T= (p.Leu770=)
c.2027T= (p.Leu676=)
c.1238T= (p.Leu413=)
c.3065T= (p.Leu1022=)
c.2492T= (p.Leu831=)
c.2417T= (p.Leu806=)
c.1094T= (p.Leu365=)
3g.38894678A>CCA2321990SCN11Ac.2690T>G (p.Leu897Arg)
c.2510T>G (p.Leu837Arg)
c.2734T>G (n.2734T>G)
c.2309T>G (p.Leu770Arg)
c.2027T>G (p.Leu676Arg)
c.1238T>G (p.Leu413Arg)
c.3065T>G (p.Leu1022Arg)
c.2492T>G (p.Leu831Arg)
c.2417T>G (p.Leu806Arg)
c.1094T>G (p.Leu365Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894678A>GCA352174588SCN11Ac.2690T>C (p.Leu897Pro)
c.2510T>C (p.Leu837Pro)
c.2734T>C (n.2734T>C)
c.2309T>C (p.Leu770Pro)
c.2027T>C (p.Leu676Pro)
c.1238T>C (p.Leu413Pro)
c.3065T>C (p.Leu1022Pro)
c.2492T>C (p.Leu831Pro)
c.2417T>C (p.Leu806Pro)
c.1094T>C (p.Leu365Pro)
3g.38894678A>TCA352174589SCN11Ac.2690T>A (p.Leu897His)
c.2510T>A (p.Leu837His)
c.2734T>A (n.2734T>A)
c.2309T>A (p.Leu770His)
c.2027T>A (p.Leu676His)
c.1238T>A (p.Leu413His)
c.3065T>A (p.Leu1022His)
c.2492T>A (p.Leu831His)
c.2417T>A (p.Leu806His)
c.1094T>A (p.Leu365His)
3g.38894679G>ACA352174590SCN11Ac.2689C>T (p.Leu897Phe)
c.2509C>T (p.Leu837Phe)
c.2733C>T (n.2733C>T)
c.2308C>T (p.Leu770Phe)
c.2026C>T (p.Leu676Phe)
c.1237C>T (p.Leu413Phe)
c.3064C>T (p.Leu1022Phe)
c.2491C>T (p.Leu831Phe)
c.2416C>T (p.Leu806Phe)
c.1093C>T (p.Leu365Phe)
 gnomAD v4
3g.38894679G>CCA352174591SCN11Ac.2689C>G (p.Leu897Val)
c.2509C>G (p.Leu837Val)
c.2733C>G (n.2733C>G)
c.2308C>G (p.Leu770Val)
c.2026C>G (p.Leu676Val)
c.1237C>G (p.Leu413Val)
c.3064C>G (p.Leu1022Val)
c.2491C>G (p.Leu831Val)
c.2416C>G (p.Leu806Val)
c.1093C>G (p.Leu365Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38894679G=CA1358718166SCN11Ac.2689C= (p.Leu897=)
c.2509C= (p.Leu837=)
c.2733C= (n.2733C=)
c.2308C= (p.Leu770=)
c.2026C= (p.Leu676=)
c.1237C= (p.Leu413=)
c.3064C= (p.Leu1022=)
c.2491C= (p.Leu831=)
c.2416C= (p.Leu806=)
c.1093C= (p.Leu365=)
3g.38894679G>TCA352174592SCN11Ac.2689C>A (p.Leu897Ile)
c.2509C>A (p.Leu837Ile)
c.2733C>A (n.2733C>A)
c.2308C>A (p.Leu770Ile)
c.2026C>A (p.Leu676Ile)
c.1237C>A (p.Leu413Ile)
c.3064C>A (p.Leu1022Ile)
c.2491C>A (p.Leu831Ile)
c.2416C>A (p.Leu806Ile)
c.1093C>A (p.Leu365Ile)
3g.38894680C>ACA2321991SCN11Ac.2688G>T (p.Glu896Asp)
c.2508G>T (p.Glu836Asp)
c.2732G>T (n.2732G>T)
c.2307G>T (p.Glu769Asp)
c.2025G>T (p.Glu675Asp)
c.1236G>T (p.Glu412Asp)
c.3063G>T (p.Glu1021Asp)
c.2490G>T (p.Glu830Asp)
c.2415G>T (p.Glu805Asp)
c.1092G>T (p.Glu364Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894680C=CA1358718167SCN11Ac.2688G= (p.Glu896=)
c.2508G= (p.Glu836=)
c.2732G= (n.2732G=)
c.2307G= (p.Glu769=)
c.2025G= (p.Glu675=)
c.1236G= (p.Glu412=)
c.3063G= (p.Glu1021=)
c.2490G= (p.Glu830=)
c.2415G= (p.Glu805=)
c.1092G= (p.Glu364=)
3g.38894680C>GCA352174593SCN11Ac.2688G>C (p.Glu896Asp)
c.2508G>C (p.Glu836Asp)
c.2732G>C (n.2732G>C)
c.2307G>C (p.Glu769Asp)
c.2025G>C (p.Glu675Asp)
c.1236G>C (p.Glu412Asp)
c.3063G>C (p.Glu1021Asp)
c.2490G>C (p.Glu830Asp)
c.2415G>C (p.Glu805Asp)
c.1092G>C (p.Glu364Asp)
3g.38894680C>TCA433336061SCN11Ac.2688G>A (p.Glu896=)
c.2508G>A (p.Glu836=)
c.2732G>A (n.2732G>A)
c.2307G>A (p.Glu769=)
c.2025G>A (p.Glu675=)
c.1236G>A (p.Glu412=)
c.3063G>A (p.Glu1021=)
c.2490G>A (p.Glu830=)
c.2415G>A (p.Glu805=)
c.1092G>A (p.Glu364=)
3g.38894681T>ACA352174594SCN11Ac.2687A>T (p.Glu896Val)
c.2507A>T (p.Glu836Val)
c.2731A>T (n.2731A>T)
c.2306A>T (p.Glu769Val)
c.2024A>T (p.Glu675Val)
c.1235A>T (p.Glu412Val)
c.3062A>T (p.Glu1021Val)
c.2489A>T (p.Glu830Val)
c.2414A>T (p.Glu805Val)
c.1091A>T (p.Glu364Val)
3g.38894681T>CCA352174595SCN11Ac.2687A>G (p.Glu896Gly)
c.2507A>G (p.Glu836Gly)
c.2731A>G (n.2731A>G)
c.2306A>G (p.Glu769Gly)
c.2024A>G (p.Glu675Gly)
c.1235A>G (p.Glu412Gly)
c.3062A>G (p.Glu1021Gly)
c.2489A>G (p.Glu830Gly)
c.2414A>G (p.Glu805Gly)
c.1091A>G (p.Glu364Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.38894681T>GCA352174596SCN11Ac.2687A>C (p.Glu896Ala)
c.2507A>C (p.Glu836Ala)
c.2731A>C (n.2731A>C)
c.2306A>C (p.Glu769Ala)
c.2024A>C (p.Glu675Ala)
c.1235A>C (p.Glu412Ala)
c.3062A>C (p.Glu1021Ala)
c.2489A>C (p.Glu830Ala)
c.2414A>C (p.Glu805Ala)
c.1091A>C (p.Glu364Ala)
3g.38894681T=CA1358718168SCN11Ac.2687A= (p.Glu896=)
c.2507A= (p.Glu836=)
c.2731A= (n.2731A=)
c.2306A= (p.Glu769=)
c.2024A= (p.Glu675=)
c.1235A= (p.Glu412=)
c.3062A= (p.Glu1021=)
c.2489A= (p.Glu830=)
c.2414A= (p.Glu805=)
c.1091A= (p.Glu364=)
3g.38894682C>ACA352174597SCN11Ac.2686G>T (p.Glu896Ter)
c.2506G>T (p.Glu836Ter)
c.2730G>T (n.2730G>T)
c.2305G>T (p.Glu769Ter)
c.2023G>T (p.Glu675Ter)
c.1234G>T (p.Glu412Ter)
c.3061G>T (p.Glu1021Ter)
c.2488G>T (p.Glu830Ter)
c.2413G>T (p.Glu805Ter)
c.1090G>T (p.Glu364Ter)
 dbSNP COSMIC
3g.38894682C=CA1358718169SCN11Ac.2686G= (p.Glu896=)
c.2506G= (p.Glu836=)
c.2730G= (n.2730G=)
c.2305G= (p.Glu769=)
c.2023G= (p.Glu675=)
c.1234G= (p.Glu412=)
c.3061G= (p.Glu1021=)
c.2488G= (p.Glu830=)
c.2413G= (p.Glu805=)
c.1090G= (p.Glu364=)
3g.38894682C>GCA352174598SCN11Ac.2686G>C (p.Glu896Gln)
c.2506G>C (p.Glu836Gln)
c.2730G>C (n.2730G>C)
c.2305G>C (p.Glu769Gln)
c.2023G>C (p.Glu675Gln)
c.1234G>C (p.Glu412Gln)
c.3061G>C (p.Glu1021Gln)
c.2488G>C (p.Glu830Gln)
c.2413G>C (p.Glu805Gln)
c.1090G>C (p.Glu364Gln)
3g.38894682C>TCA352174599SCN11Ac.2686G>A (p.Glu896Lys)
c.2506G>A (p.Glu836Lys)
c.2730G>A (n.2730G>A)
c.2305G>A (p.Glu769Lys)
c.2023G>A (p.Glu675Lys)
c.1234G>A (p.Glu412Lys)
c.3061G>A (p.Glu1021Lys)
c.2488G>A (p.Glu830Lys)
c.2413G>A (p.Glu805Lys)
c.1090G>A (p.Glu364Lys)
 COSMIC
3g.38894683C>ACA352174600SCN11Ac.2685G>T (p.Glu895Asp)
c.2505G>T (p.Glu835Asp)
c.2729G>T (n.2729G>T)
c.2304G>T (p.Glu768Asp)
c.2022G>T (p.Glu674Asp)
c.1233G>T (p.Glu411Asp)
c.3060G>T (p.Glu1020Asp)
c.2487G>T (p.Glu829Asp)
c.2412G>T (p.Glu804Asp)
c.1089G>T (p.Glu363Asp)
3g.38894683C=CA1358718170SCN11Ac.2685G= (p.Glu895=)
c.2505G= (p.Glu835=)
c.2729G= (n.2729G=)
c.2304G= (p.Glu768=)
c.2022G= (p.Glu674=)
c.1233G= (p.Glu411=)
c.3060G= (p.Glu1020=)
c.2487G= (p.Glu829=)
c.2412G= (p.Glu804=)
c.1089G= (p.Glu363=)
3g.38894683C>GCA352174601SCN11Ac.2685G>C (p.Glu895Asp)
c.2505G>C (p.Glu835Asp)
c.2729G>C (n.2729G>C)
c.2304G>C (p.Glu768Asp)
c.2022G>C (p.Glu674Asp)
c.1233G>C (p.Glu411Asp)
c.3060G>C (p.Glu1020Asp)
c.2487G>C (p.Glu829Asp)
c.2412G>C (p.Glu804Asp)
c.1089G>C (p.Glu363Asp)
3g.38894683C>TCA433336062SCN11Ac.2685G>A (p.Glu895=)
c.2505G>A (p.Glu835=)
c.2729G>A (n.2729G>A)
c.2304G>A (p.Glu768=)
c.2022G>A (p.Glu674=)
c.1233G>A (p.Glu411=)
c.3060G>A (p.Glu1020=)
c.2487G>A (p.Glu829=)
c.2412G>A (p.Glu804=)
c.1089G>A (p.Glu363=)
3g.38894684T>ACA352174602SCN11Ac.2684A>T (p.Glu895Val)
c.2504A>T (p.Glu835Val)
c.2728A>T (n.2728A>T)
c.2303A>T (p.Glu768Val)
c.2021A>T (p.Glu674Val)
c.1232A>T (p.Glu411Val)
c.3059A>T (p.Glu1020Val)
c.2486A>T (p.Glu829Val)
c.2411A>T (p.Glu804Val)
c.1088A>T (p.Glu363Val)
3g.38894684T>CCA352174603SCN11Ac.2684A>G (p.Glu895Gly)
c.2504A>G (p.Glu835Gly)
c.2728A>G (n.2728A>G)
c.2303A>G (p.Glu768Gly)
c.2021A>G (p.Glu674Gly)
c.1232A>G (p.Glu411Gly)
c.3059A>G (p.Glu1020Gly)
c.2486A>G (p.Glu829Gly)
c.2411A>G (p.Glu804Gly)
c.1088A>G (p.Glu363Gly)
3g.38894684T>GCA352174604SCN11Ac.2684A>C (p.Glu895Ala)
c.2504A>C (p.Glu835Ala)
c.2728A>C (n.2728A>C)
c.2303A>C (p.Glu768Ala)
c.2021A>C (p.Glu674Ala)
c.1232A>C (p.Glu411Ala)
c.3059A>C (p.Glu1020Ala)
c.2486A>C (p.Glu829Ala)
c.2411A>C (p.Glu804Ala)
c.1088A>C (p.Glu363Ala)
3g.38894684dupCA906910035SCN11Ac.2684dup (p.Glu896GlyfsTer17)
c.2504dup (p.Glu836GlyfsTer17)
c.2728dup (n.2728dup)
c.2303dup (p.Glu769GlyfsTer17)
c.2021dup (p.Glu675GlyfsTer17)
c.1232dup (p.Glu412GlyfsTer17)
c.3059dup (p.Glu1021GlyfsTer17)
c.2486dup (p.Glu830GlyfsTer17)
c.2411dup (p.Glu805GlyfsTer17)
c.1088dup (p.Glu364GlyfsTer17)
 dbSNP gnomAD v3 gnomAD v4
3g.38894685C>ACA352174605SCN11Ac.2683G>T (p.Glu895Ter)
c.2503G>T (p.Glu835Ter)
c.2727G>T (n.2727G>T)
c.2302G>T (p.Glu768Ter)
c.2020G>T (p.Glu674Ter)
c.1231G>T (p.Glu411Ter)
c.3058G>T (p.Glu1020Ter)
c.2485G>T (p.Glu829Ter)
c.2410G>T (p.Glu804Ter)
c.1087G>T (p.Glu363Ter)
 dbSNP
3g.38894685C=CA1358718171SCN11Ac.2683G= (p.Glu895=)
c.2503G= (p.Glu835=)
c.2727G= (n.2727G=)
c.2302G= (p.Glu768=)
c.2020G= (p.Glu674=)
c.1231G= (p.Glu411=)
c.3058G= (p.Glu1020=)
c.2485G= (p.Glu829=)
c.2410G= (p.Glu804=)
c.1087G= (p.Glu363=)
3g.38894685C>GCA352174606SCN11Ac.2683G>C (p.Glu895Gln)
c.2503G>C (p.Glu835Gln)
c.2727G>C (n.2727G>C)
c.2302G>C (p.Glu768Gln)
c.2020G>C (p.Glu674Gln)
c.1231G>C (p.Glu411Gln)
c.3058G>C (p.Glu1020Gln)
c.2485G>C (p.Glu829Gln)
c.2410G>C (p.Glu804Gln)
c.1087G>C (p.Glu363Gln)
3g.38894685C>TCA352174607SCN11Ac.2683G>A (p.Glu895Lys)
c.2503G>A (p.Glu835Lys)
c.2727G>A (n.2727G>A)
c.2302G>A (p.Glu768Lys)
c.2020G>A (p.Glu674Lys)
c.1231G>A (p.Glu411Lys)
c.3058G>A (p.Glu1020Lys)
c.2485G>A (p.Glu829Lys)
c.2410G>A (p.Glu804Lys)
c.1087G>A (p.Glu363Lys)
 gnomAD v4
3g.38894686C>ACA352174608SCN11Ac.2682G>T (p.Gln894His)
c.2502G>T (p.Gln834His)
c.2726G>T (n.2726G>T)
c.2301G>T (p.Gln767His)
c.2019G>T (p.Gln673His)
c.1230G>T (p.Gln410His)
c.3057G>T (p.Gln1019His)
c.2484G>T (p.Gln828His)
c.2409G>T (p.Gln803His)
c.1086G>T (p.Gln362His)
3g.38894686C>GCA352174609SCN11Ac.2682G>C (p.Gln894His)
c.2502G>C (p.Gln834His)
c.2726G>C (n.2726G>C)
c.2301G>C (p.Gln767His)
c.2019G>C (p.Gln673His)
c.1230G>C (p.Gln410His)
c.3057G>C (p.Gln1019His)
c.2484G>C (p.Gln828His)
c.2409G>C (p.Gln803His)
c.1086G>C (p.Gln362His)
3g.38894686C>TCA433336063SCN11Ac.2682G>A (p.Gln894=)
c.2502G>A (p.Gln834=)
c.2726G>A (n.2726G>A)
c.2301G>A (p.Gln767=)
c.2019G>A (p.Gln673=)
c.1230G>A (p.Gln410=)
c.3057G>A (p.Gln1019=)
c.2484G>A (p.Gln828=)
c.2409G>A (p.Gln803=)
c.1086G>A (p.Gln362=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894687T>ACA352174610SCN11Ac.2681A>T (p.Gln894Leu)
c.2501A>T (p.Gln834Leu)
c.2725A>T (n.2725A>T)
c.2300A>T (p.Gln767Leu)
c.2018A>T (p.Gln673Leu)
c.1229A>T (p.Gln410Leu)
c.3056A>T (p.Gln1019Leu)
c.2483A>T (p.Gln828Leu)
c.2408A>T (p.Gln803Leu)
c.1085A>T (p.Gln362Leu)
3g.38894687T>CCA352174611SCN11Ac.2681A>G (p.Gln894Arg)
c.2501A>G (p.Gln834Arg)
c.2725A>G (n.2725A>G)
c.2300A>G (p.Gln767Arg)
c.2018A>G (p.Gln673Arg)
c.1229A>G (p.Gln410Arg)
c.3056A>G (p.Gln1019Arg)
c.2483A>G (p.Gln828Arg)
c.2408A>G (p.Gln803Arg)
c.1085A>G (p.Gln362Arg)
3g.38894687T>GCA352174612SCN11Ac.2681A>C (p.Gln894Pro)
c.2501A>C (p.Gln834Pro)
c.2725A>C (n.2725A>C)
c.2300A>C (p.Gln767Pro)
c.2018A>C (p.Gln673Pro)
c.1229A>C (p.Gln410Pro)
c.3056A>C (p.Gln1019Pro)
c.2483A>C (p.Gln828Pro)
c.2408A>C (p.Gln803Pro)
c.1085A>C (p.Gln362Pro)
3g.38894688G>ACA352174613SCN11Ac.2680C>T (p.Gln894Ter)
c.2500C>T (p.Gln834Ter)
c.2724C>T (n.2724C>T)
c.2299C>T (p.Gln767Ter)
c.2017C>T (p.Gln673Ter)
c.1228C>T (p.Gln410Ter)
c.3055C>T (p.Gln1019Ter)
c.2482C>T (p.Gln828Ter)
c.2407C>T (p.Gln803Ter)
c.1084C>T (p.Gln362Ter)
 gnomAD v4
3g.38894688G>CCA352174615SCN11Ac.2680C>G (p.Gln894Glu)
c.2500C>G (p.Gln834Glu)
c.2724C>G (n.2724C>G)
c.2299C>G (p.Gln767Glu)
c.2017C>G (p.Gln673Glu)
c.1228C>G (p.Gln410Glu)
c.3055C>G (p.Gln1019Glu)
c.2482C>G (p.Gln828Glu)
c.2407C>G (p.Gln803Glu)
c.1084C>G (p.Gln362Glu)
3g.38894688G>TCA352174614SCN11Ac.2680C>A (p.Gln894Lys)
c.2500C>A (p.Gln834Lys)
c.2724C>A (n.2724C>A)
c.2299C>A (p.Gln767Lys)
c.2017C>A (p.Gln673Lys)
c.1228C>A (p.Gln410Lys)
c.3055C>A (p.Gln1019Lys)
c.2482C>A (p.Gln828Lys)
c.2407C>A (p.Gln803Lys)
c.1084C>A (p.Gln362Lys)
3g.38894689G>ACA433336064SCN11Ac.2679C>T (p.Thr893=)
c.2499C>T (p.Thr833=)
c.2723C>T (n.2723C>T)
c.2298C>T (p.Thr766=)
c.2016C>T (p.Thr672=)
c.1227C>T (p.Thr409=)
c.3054C>T (p.Thr1018=)
c.2481C>T (p.Thr827=)
c.2406C>T (p.Thr802=)
c.1083C>T (p.Thr361=)
 dbSNP gnomAD v2 gnomAD v4
3g.38894689G>CCA433336065SCN11Ac.2679C>G (p.Thr893=)
c.2499C>G (p.Thr833=)
c.2723C>G (n.2723C>G)
c.2298C>G (p.Thr766=)
c.2016C>G (p.Thr672=)
c.1227C>G (p.Thr409=)
c.3054C>G (p.Thr1018=)
c.2481C>G (p.Thr827=)
c.2406C>G (p.Thr802=)
c.1083C>G (p.Thr361=)
3g.38894689G=CA1358718172SCN11Ac.2679C= (p.Thr893=)
c.2499C= (p.Thr833=)
c.2723C= (n.2723C=)
c.2298C= (p.Thr766=)
c.2016C= (p.Thr672=)
c.1227C= (p.Thr409=)
c.3054C= (p.Thr1018=)
c.2481C= (p.Thr827=)
c.2406C= (p.Thr802=)
c.1083C= (p.Thr361=)
3g.38894689G>TCA433336066SCN11Ac.2679C>A (p.Thr893=)
c.2499C>A (p.Thr833=)
c.2723C>A (n.2723C>A)
c.2298C>A (p.Thr766=)
c.2016C>A (p.Thr672=)
c.1227C>A (p.Thr409=)
c.3054C>A (p.Thr1018=)
c.2481C>A (p.Thr827=)
c.2406C>A (p.Thr802=)
c.1083C>A (p.Thr361=)
3g.38894690G>ACA352174616SCN11Ac.2678C>T (p.Thr893Ile)
c.2498C>T (p.Thr833Ile)
c.2722C>T (n.2722C>T)
c.2297C>T (p.Thr766Ile)
c.2015C>T (p.Thr672Ile)
c.1226C>T (p.Thr409Ile)
c.3053C>T (p.Thr1018Ile)
c.2480C>T (p.Thr827Ile)
c.2405C>T (p.Thr802Ile)
c.1082C>T (p.Thr361Ile)
3g.38894690G>CCA352174618SCN11Ac.2678C>G (p.Thr893Ser)
c.2498C>G (p.Thr833Ser)
c.2722C>G (n.2722C>G)
c.2297C>G (p.Thr766Ser)
c.2015C>G (p.Thr672Ser)
c.1226C>G (p.Thr409Ser)
c.3053C>G (p.Thr1018Ser)
c.2480C>G (p.Thr827Ser)
c.2405C>G (p.Thr802Ser)
c.1082C>G (p.Thr361Ser)
3g.38894690G>TCA352174617SCN11Ac.2678C>A (p.Thr893Asn)
c.2498C>A (p.Thr833Asn)
c.2722C>A (n.2722C>A)
c.2297C>A (p.Thr766Asn)
c.2015C>A (p.Thr672Asn)
c.1226C>A (p.Thr409Asn)
c.3053C>A (p.Thr1018Asn)
c.2480C>A (p.Thr827Asn)
c.2405C>A (p.Thr802Asn)
c.1082C>A (p.Thr361Asn)
3g.38894691T>ACA352174619SCN11Ac.2677A>T (p.Thr893Ser)
c.2497A>T (p.Thr833Ser)
c.2721A>T (n.2721A>T)
c.2296A>T (p.Thr766Ser)
c.2014A>T (p.Thr672Ser)
c.1225A>T (p.Thr409Ser)
c.3052A>T (p.Thr1018Ser)
c.2479A>T (p.Thr827Ser)
c.2404A>T (p.Thr802Ser)
c.1081A>T (p.Thr361Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.38894691T>CCA352174620SCN11Ac.2677A>G (p.Thr893Ala)
c.2497A>G (p.Thr833Ala)
c.2721A>G (n.2721A>G)
c.2296A>G (p.Thr766Ala)
c.2014A>G (p.Thr672Ala)
c.1225A>G (p.Thr409Ala)
c.3052A>G (p.Thr1018Ala)
c.2479A>G (p.Thr827Ala)
c.2404A>G (p.Thr802Ala)
c.1081A>G (p.Thr361Ala)
3g.38894691T>GCA352174621SCN11Ac.2677A>C (p.Thr893Pro)
c.2497A>C (p.Thr833Pro)
c.2721A>C (n.2721A>C)
c.2296A>C (p.Thr766Pro)
c.2014A>C (p.Thr672Pro)
c.1225A>C (p.Thr409Pro)
c.3052A>C (p.Thr1018Pro)
c.2479A>C (p.Thr827Pro)
c.2404A>C (p.Thr802Pro)
c.1081A>C (p.Thr361Pro)
3g.38894691T=CA1358718173SCN11Ac.2677A= (p.Thr893=)
c.2497A= (p.Thr833=)
c.2721A= (n.2721A=)
c.2296A= (p.Thr766=)
c.2014A= (p.Thr672=)
c.1225A= (p.Thr409=)
c.3052A= (p.Thr1018=)
c.2479A= (p.Thr827=)
c.2404A= (p.Thr802=)
c.1081A= (p.Thr361=)
3g.38894692C>ACA352174622SCN11Ac.2676G>T (p.Glu892Asp)
c.2496G>T (p.Glu832Asp)
c.2720G>T (n.2720G>T)
c.2295G>T (p.Glu765Asp)
c.2013G>T (p.Glu671Asp)
c.1224G>T (p.Glu408Asp)
c.3051G>T (p.Glu1017Asp)
c.2478G>T (p.Glu826Asp)
c.2403G>T (p.Glu801Asp)
c.1080G>T (p.Glu360Asp)
3g.38894692C>GCA352174623SCN11Ac.2676G>C (p.Glu892Asp)
c.2496G>C (p.Glu832Asp)
c.2720G>C (n.2720G>C)
c.2295G>C (p.Glu765Asp)
c.2013G>C (p.Glu671Asp)
c.1224G>C (p.Glu408Asp)
c.3051G>C (p.Glu1017Asp)
c.2478G>C (p.Glu826Asp)
c.2403G>C (p.Glu801Asp)
c.1080G>C (p.Glu360Asp)
3g.38894692C>TCA433336069SCN11Ac.2676G>A (p.Glu892=)
c.2496G>A (p.Glu832=)
c.2720G>A (n.2720G>A)
c.2295G>A (p.Glu765=)
c.2013G>A (p.Glu671=)
c.1224G>A (p.Glu408=)
c.3051G>A (p.Glu1017=)
c.2478G>A (p.Glu826=)
c.2403G>A (p.Glu801=)
c.1080G>A (p.Glu360=)
3g.38894693T>ACA352174624SCN11Ac.2675A>T (p.Glu892Val)
c.2495A>T (p.Glu832Val)
c.2719A>T (n.2719A>T)
c.2294A>T (p.Glu765Val)
c.2012A>T (p.Glu671Val)
c.1223A>T (p.Glu408Val)
c.3050A>T (p.Glu1017Val)
c.2477A>T (p.Glu826Val)
c.2402A>T (p.Glu801Val)
c.1079A>T (p.Glu360Val)
3g.38894693T>CCA352174625SCN11Ac.2675A>G (p.Glu892Gly)
c.2495A>G (p.Glu832Gly)
c.2719A>G (n.2719A>G)
c.2294A>G (p.Glu765Gly)
c.2012A>G (p.Glu671Gly)
c.1223A>G (p.Glu408Gly)
c.3050A>G (p.Glu1017Gly)
c.2477A>G (p.Glu826Gly)
c.2402A>G (p.Glu801Gly)
c.1079A>G (p.Glu360Gly)
3g.38894693T>GCA352174626SCN11Ac.2675A>C (p.Glu892Ala)
c.2495A>C (p.Glu832Ala)
c.2719A>C (n.2719A>C)
c.2294A>C (p.Glu765Ala)
c.2012A>C (p.Glu671Ala)
c.1223A>C (p.Glu408Ala)
c.3050A>C (p.Glu1017Ala)
c.2477A>C (p.Glu826Ala)
c.2402A>C (p.Glu801Ala)
c.1079A>C (p.Glu360Ala)
3g.38894694C>ACA352174627SCN11Ac.2674G>T (p.Glu892Ter)
c.2494G>T (p.Glu832Ter)
c.2718G>T (n.2718G>T)
c.2293G>T (p.Glu765Ter)
c.2011G>T (p.Glu671Ter)
c.1222G>T (p.Glu408Ter)
c.3049G>T (p.Glu1017Ter)
c.2476G>T (p.Glu826Ter)
c.2401G>T (p.Glu801Ter)
c.1078G>T (p.Glu360Ter)
 dbSNP
3g.38894694C=CA1358718174SCN11Ac.2674G= (p.Glu892=)
c.2494G= (p.Glu832=)
c.2718G= (n.2718G=)
c.2293G= (p.Glu765=)
c.2011G= (p.Glu671=)
c.1222G= (p.Glu408=)
c.3049G= (p.Glu1017=)
c.2476G= (p.Glu826=)
c.2401G= (p.Glu801=)
c.1078G= (p.Glu360=)
3g.38894694C>GCA352174628SCN11Ac.2674G>C (p.Glu892Gln)
c.2494G>C (p.Glu832Gln)
c.2718G>C (n.2718G>C)
c.2293G>C (p.Glu765Gln)
c.2011G>C (p.Glu671Gln)
c.1222G>C (p.Glu408Gln)
c.3049G>C (p.Glu1017Gln)
c.2476G>C (p.Glu826Gln)
c.2401G>C (p.Glu801Gln)
c.1078G>C (p.Glu360Gln)
3g.38894694C>TCA352174629SCN11Ac.2674G>A (p.Glu892Lys)
c.2494G>A (p.Glu832Lys)
c.2718G>A (n.2718G>A)
c.2293G>A (p.Glu765Lys)
c.2011G>A (p.Glu671Lys)
c.1222G>A (p.Glu408Lys)
c.3049G>A (p.Glu1017Lys)
c.2476G>A (p.Glu826Lys)
c.2401G>A (p.Glu801Lys)
c.1078G>A (p.Glu360Lys)
3g.38894695T>ACA433336072SCN11Ac.2673A>T (p.Ser891=)
c.2493A>T (p.Ser831=)
c.2717A>T (n.2717A>T)
c.2292A>T (p.Ser764=)
c.2010A>T (p.Ser670=)
c.1221A>T (p.Ser407=)
c.3048A>T (p.Ser1016=)
c.2475A>T (p.Ser825=)
c.2400A>T (p.Ser800=)
c.1077A>T (p.Ser359=)
3g.38894695T>CCA433336073SCN11Ac.2673A>G (p.Ser891=)
c.2493A>G (p.Ser831=)
c.2717A>G (n.2717A>G)
c.2292A>G (p.Ser764=)
c.2010A>G (p.Ser670=)
c.1221A>G (p.Ser407=)
c.3048A>G (p.Ser1016=)
c.2475A>G (p.Ser825=)
c.2400A>G (p.Ser800=)
c.1077A>G (p.Ser359=)
3g.38894695T>GCA433336074SCN11Ac.2673A>C (p.Ser891=)
c.2493A>C (p.Ser831=)
c.2717A>C (n.2717A>C)
c.2292A>C (p.Ser764=)
c.2010A>C (p.Ser670=)
c.1221A>C (p.Ser407=)
c.3048A>C (p.Ser1016=)
c.2475A>C (p.Ser825=)
c.2400A>C (p.Ser800=)
c.1077A>C (p.Ser359=)
 gnomAD v4
3g.38894696G>ACA352174631SCN11Ac.2672C>T (p.Ser891Leu)
c.2492C>T (p.Ser831Leu)
c.2716C>T (n.2716C>T)
c.2291C>T (p.Ser764Leu)
c.2009C>T (p.Ser670Leu)
c.1220C>T (p.Ser407Leu)
c.3047C>T (p.Ser1016Leu)
c.2474C>T (p.Ser825Leu)
c.2399C>T (p.Ser800Leu)
c.1076C>T (p.Ser359Leu)
3g.38894696G>CCA72997490SCN11Ac.2672C>G (p.Ser891Ter)
c.2492C>G (p.Ser831Ter)
c.2716C>G (n.2716C>G)
c.2291C>G (p.Ser764Ter)
c.2009C>G (p.Ser670Ter)
c.1220C>G (p.Ser407Ter)
c.3047C>G (p.Ser1016Ter)
c.2474C>G (p.Ser825Ter)
c.2399C>G (p.Ser800Ter)
c.1076C>G (p.Ser359Ter)
 dbSNP gnomAD v4
3g.38894696G=CA1358718175SCN11Ac.2672C= (p.Ser891=)
c.2492C= (p.Ser831=)
c.2716C= (n.2716C=)
c.2291C= (p.Ser764=)
c.2009C= (p.Ser670=)
c.1220C= (p.Ser407=)
c.3047C= (p.Ser1016=)
c.2474C= (p.Ser825=)
c.2399C= (p.Ser800=)
c.1076C= (p.Ser359=)
3g.38894696G>TCA352174630SCN11Ac.2672C>A (p.Ser891Ter)
c.2492C>A (p.Ser831Ter)
c.2716C>A (n.2716C>A)
c.2291C>A (p.Ser764Ter)
c.2009C>A (p.Ser670Ter)
c.1220C>A (p.Ser407Ter)
c.3047C>A (p.Ser1016Ter)
c.2474C>A (p.Ser825Ter)
c.2399C>A (p.Ser800Ter)
c.1076C>A (p.Ser359Ter)
3g.38894697A>CCA352174632SCN11Ac.2671T>G (p.Ser891Ala)
c.2491T>G (p.Ser831Ala)
c.2715T>G (n.2715T>G)
c.2290T>G (p.Ser764Ala)
c.2008T>G (p.Ser670Ala)
c.1219T>G (p.Ser407Ala)
c.3046T>G (p.Ser1016Ala)
c.2473T>G (p.Ser825Ala)
c.2398T>G (p.Ser800Ala)
c.1075T>G (p.Ser359Ala)
3g.38894697A>GCA352174633SCN11Ac.2671T>C (p.Ser891Pro)
c.2491T>C (p.Ser831Pro)
c.2715T>C (n.2715T>C)
c.2290T>C (p.Ser764Pro)
c.2008T>C (p.Ser670Pro)
c.1219T>C (p.Ser407Pro)
c.3046T>C (p.Ser1016Pro)
c.2473T>C (p.Ser825Pro)
c.2398T>C (p.Ser800Pro)
c.1075T>C (p.Ser359Pro)
 ClinVar
3g.38894697A>TCA352174634SCN11Ac.2671T>A (p.Ser891Thr)
c.2491T>A (p.Ser831Thr)
c.2715T>A (n.2715T>A)
c.2290T>A (p.Ser764Thr)
c.2008T>A (p.Ser670Thr)
c.1219T>A (p.Ser407Thr)
c.3046T>A (p.Ser1016Thr)
c.2473T>A (p.Ser825Thr)
c.2398T>A (p.Ser800Thr)
c.1075T>A (p.Ser359Thr)
3g.38894698G>ACA433336076SCN11Ac.2670C>T (p.Gly890=)
c.2490C>T (p.Gly830=)
c.2714C>T (n.2714C>T)
c.2289C>T (p.Gly763=)
c.2007C>T (p.Gly669=)
c.1218C>T (p.Gly406=)
c.3045C>T (p.Gly1015=)
c.2472C>T (p.Gly824=)
c.2397C>T (p.Gly799=)
c.1074C>T (p.Gly358=)
3g.38894698G>CCA433336077SCN11Ac.2670C>G (p.Gly890=)
c.2490C>G (p.Gly830=)
c.2714C>G (n.2714C>G)
c.2289C>G (p.Gly763=)
c.2007C>G (p.Gly669=)
c.1218C>G (p.Gly406=)
c.3045C>G (p.Gly1015=)
c.2472C>G (p.Gly824=)
c.2397C>G (p.Gly799=)
c.1074C>G (p.Gly358=)
3g.38894698G>TCA433336078SCN11Ac.2670C>A (p.Gly890=)
c.2490C>A (p.Gly830=)
c.2714C>A (n.2714C>A)
c.2289C>A (p.Gly763=)
c.2007C>A (p.Gly669=)
c.1218C>A (p.Gly406=)
c.3045C>A (p.Gly1015=)
c.2472C>A (p.Gly824=)
c.2397C>A (p.Gly799=)
c.1074C>A (p.Gly358=)
3g.38894699C>ACA352174635SCN11Ac.2669G>T (p.Gly890Val)
c.2489G>T (p.Gly830Val)
c.2713G>T (n.2713G>T)
c.2288G>T (p.Gly763Val)
c.2006G>T (p.Gly669Val)
c.1217G>T (p.Gly406Val)
c.3044G>T (p.Gly1015Val)
c.2471G>T (p.Gly824Val)
c.2396G>T (p.Gly799Val)
c.1073G>T (p.Gly358Val)
3g.38894699C=CA1358718176SCN11Ac.2669G= (p.Gly890=)
c.2489G= (p.Gly830=)
c.2713G= (n.2713G=)
c.2288G= (p.Gly763=)
c.2006G= (p.Gly669=)
c.1217G= (p.Gly406=)
c.3044G= (p.Gly1015=)
c.2471G= (p.Gly824=)
c.2396G= (p.Gly799=)
c.1073G= (p.Gly358=)
3g.38894699C>GCA352174636SCN11Ac.2669G>C (p.Gly890Ala)
c.2489G>C (p.Gly830Ala)
c.2713G>C (n.2713G>C)
c.2288G>C (p.Gly763Ala)
c.2006G>C (p.Gly669Ala)
c.1217G>C (p.Gly406Ala)
c.3044G>C (p.Gly1015Ala)
c.2471G>C (p.Gly824Ala)
c.2396G>C (p.Gly799Ala)
c.1073G>C (p.Gly358Ala)
3g.38894699C>TCA2321992SCN11Ac.2669G>A (p.Gly890Asp)
c.2489G>A (p.Gly830Asp)
c.2713G>A (n.2713G>A)
c.2288G>A (p.Gly763Asp)
c.2006G>A (p.Gly669Asp)
c.1217G>A (p.Gly406Asp)
c.3044G>A (p.Gly1015Asp)
c.2471G>A (p.Gly824Asp)
c.2396G>A (p.Gly799Asp)
c.1073G>A (p.Gly358Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894700C>ACA352174637SCN11Ac.2668G>T (p.Gly890Cys)
c.2488G>T (p.Gly830Cys)
c.2712G>T (n.2712G>T)
c.2287G>T (p.Gly763Cys)
c.2005G>T (p.Gly669Cys)
c.1216G>T (p.Gly406Cys)
c.3043G>T (p.Gly1015Cys)
c.2470G>T (p.Gly824Cys)
c.2395G>T (p.Gly799Cys)
c.1072G>T (p.Gly358Cys)
 dbSNP
3g.38894700C=CA1358718177SCN11Ac.2668G= (p.Gly890=)
c.2488G= (p.Gly830=)
c.2712G= (n.2712G=)
c.2287G= (p.Gly763=)
c.2005G= (p.Gly669=)
c.1216G= (p.Gly406=)
c.3043G= (p.Gly1015=)
c.2470G= (p.Gly824=)
c.2395G= (p.Gly799=)
c.1072G= (p.Gly358=)
3g.38894700C>GCA352174638SCN11Ac.2668G>C (p.Gly890Arg)
c.2488G>C (p.Gly830Arg)
c.2712G>C (n.2712G>C)
c.2287G>C (p.Gly763Arg)
c.2005G>C (p.Gly669Arg)
c.1216G>C (p.Gly406Arg)
c.3043G>C (p.Gly1015Arg)
c.2470G>C (p.Gly824Arg)
c.2395G>C (p.Gly799Arg)
c.1072G>C (p.Gly358Arg)
3g.38894700C>TCA352174639SCN11Ac.2668G>A (p.Gly890Ser)
c.2488G>A (p.Gly830Ser)
c.2712G>A (n.2712G>A)
c.2287G>A (p.Gly763Ser)
c.2005G>A (p.Gly669Ser)
c.1216G>A (p.Gly406Ser)
c.3043G>A (p.Gly1015Ser)
c.2470G>A (p.Gly824Ser)
c.2395G>A (p.Gly799Ser)
c.1072G>A (p.Gly358Ser)
 gnomAD v4
3g.38894701C>ACA352174640SCN11Ac.2667G>T (p.Arg889Ser)
c.2487G>T (p.Arg829Ser)
c.2711G>T (n.2711G>T)
c.2286G>T (p.Arg762Ser)
c.2004G>T (p.Arg668Ser)
c.1215G>T (p.Arg405Ser)
c.3042G>T (p.Arg1014Ser)
c.2469G>T (p.Arg823Ser)
c.2394G>T (p.Arg798Ser)
c.1071G>T (p.Arg357Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.38894701C=CA1358718178SCN11Ac.2667G= (p.Arg889=)
c.2487G= (p.Arg829=)
c.2711G= (n.2711G=)
c.2286G= (p.Arg762=)
c.2004G= (p.Arg668=)
c.1215G= (p.Arg405=)
c.3042G= (p.Arg1014=)
c.2469G= (p.Arg823=)
c.2394G= (p.Arg798=)
c.1071G= (p.Arg357=)
3g.38894701C>GCA352174641SCN11Ac.2667G>C (p.Arg889Ser)
c.2487G>C (p.Arg829Ser)
c.2711G>C (n.2711G>C)
c.2286G>C (p.Arg762Ser)
c.2004G>C (p.Arg668Ser)
c.1215G>C (p.Arg405Ser)
c.3042G>C (p.Arg1014Ser)
c.2469G>C (p.Arg823Ser)
c.2394G>C (p.Arg798Ser)
c.1071G>C (p.Arg357Ser)
3g.38894701C>TCA433336080SCN11Ac.2667G>A (p.Arg889=)
c.2487G>A (p.Arg829=)
c.2711G>A (n.2711G>A)
c.2286G>A (p.Arg762=)
c.2004G>A (p.Arg668=)
c.1215G>A (p.Arg405=)
c.3042G>A (p.Arg1014=)
c.2469G>A (p.Arg823=)
c.2394G>A (p.Arg798=)
c.1071G>A (p.Arg357=)
 COSMIC
3g.38894702C>ACA352174642SCN11Ac.2666G>T (p.Arg889Met)
c.2486G>T (p.Arg829Met)
c.2710G>T (n.2710G>T)
c.2285G>T (p.Arg762Met)
c.2003G>T (p.Arg668Met)
c.1214G>T (p.Arg405Met)
c.3041G>T (p.Arg1014Met)
c.2468G>T (p.Arg823Met)
c.2393G>T (p.Arg798Met)
c.1070G>T (p.Arg357Met)
3g.38894702C=CA1358718179SCN11Ac.2666G= (p.Arg889=)
c.2486G= (p.Arg829=)
c.2710G= (n.2710G=)
c.2285G= (p.Arg762=)
c.2003G= (p.Arg668=)
c.1214G= (p.Arg405=)
c.3041G= (p.Arg1014=)
c.2468G= (p.Arg823=)
c.2393G= (p.Arg798=)
c.1070G= (p.Arg357=)
3g.38894702C>GCA2321993SCN11Ac.2666G>C (p.Arg889Thr)
c.2486G>C (p.Arg829Thr)
c.2710G>C (n.2710G>C)
c.2285G>C (p.Arg762Thr)
c.2003G>C (p.Arg668Thr)
c.1214G>C (p.Arg405Thr)
c.3041G>C (p.Arg1014Thr)
c.2468G>C (p.Arg823Thr)
c.2393G>C (p.Arg798Thr)
c.1070G>C (p.Arg357Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894702C>TCA72997513SCN11Ac.2666G>A (p.Arg889Lys)
c.2486G>A (p.Arg829Lys)
c.2710G>A (n.2710G>A)
c.2285G>A (p.Arg762Lys)
c.2003G>A (p.Arg668Lys)
c.1214G>A (p.Arg405Lys)
c.3041G>A (p.Arg1014Lys)
c.2468G>A (p.Arg823Lys)
c.2393G>A (p.Arg798Lys)
c.1070G>A (p.Arg357Lys)
 dbSNP gnomAD v4
3g.38894703T>ACA352174643SCN11Ac.2665A>T (p.Arg889Trp)
c.2485A>T (p.Arg829Trp)
c.2709A>T (n.2709A>T)
c.2284A>T (p.Arg762Trp)
c.2002A>T (p.Arg668Trp)
c.1213A>T (p.Arg405Trp)
c.3040A>T (p.Arg1014Trp)
c.2467A>T (p.Arg823Trp)
c.2392A>T (p.Arg798Trp)
c.1069A>T (p.Arg357Trp)
3g.38894703T>CCA352174644SCN11Ac.2665A>G (p.Arg889Gly)
c.2485A>G (p.Arg829Gly)
c.2709A>G (n.2709A>G)
c.2284A>G (p.Arg762Gly)
c.2002A>G (p.Arg668Gly)
c.1213A>G (p.Arg405Gly)
c.3040A>G (p.Arg1014Gly)
c.2467A>G (p.Arg823Gly)
c.2392A>G (p.Arg798Gly)
c.1069A>G (p.Arg357Gly)
3g.38894703T>GCA433336082SCN11Ac.2665A>C (p.Arg889=)
c.2485A>C (p.Arg829=)
c.2709A>C (n.2709A>C)
c.2284A>C (p.Arg762=)
c.2002A>C (p.Arg668=)
c.1213A>C (p.Arg405=)
c.3040A>C (p.Arg1014=)
c.2467A>C (p.Arg823=)
c.2392A>C (p.Arg798=)
c.1069A>C (p.Arg357=)
3g.38894704T>ACA352174645SCN11Ac.2664A>T (p.Lys888Asn)
c.2484A>T (p.Lys828Asn)
c.2708A>T (n.2708A>T)
c.2283A>T (p.Lys761Asn)
c.2001A>T (p.Lys667Asn)
c.1212A>T (p.Lys404Asn)
c.3039A>T (p.Lys1013Asn)
c.2466A>T (p.Lys822Asn)
c.2391A>T (p.Lys797Asn)
c.1068A>T (p.Lys356Asn)
3g.38894704T>CCA433336083SCN11Ac.2664A>G (p.Lys888=)
c.2484A>G (p.Lys828=)
c.2708A>G (n.2708A>G)
c.2283A>G (p.Lys761=)
c.2001A>G (p.Lys667=)
c.1212A>G (p.Lys404=)
c.3039A>G (p.Lys1013=)
c.2466A>G (p.Lys822=)
c.2391A>G (p.Lys797=)
c.1068A>G (p.Lys356=)
 gnomAD v4
3g.38894704T>GCA352174646SCN11Ac.2664A>C (p.Lys888Asn)
c.2484A>C (p.Lys828Asn)
c.2708A>C (n.2708A>C)
c.2283A>C (p.Lys761Asn)
c.2001A>C (p.Lys667Asn)
c.1212A>C (p.Lys404Asn)
c.3039A>C (p.Lys1013Asn)
c.2466A>C (p.Lys822Asn)
c.2391A>C (p.Lys797Asn)
c.1068A>C (p.Lys356Asn)
3g.38894705T>ACA352174647SCN11Ac.2663A>T (p.Lys888Ile)
c.2483A>T (p.Lys828Ile)
c.2707A>T (n.2707A>T)
c.2282A>T (p.Lys761Ile)
c.2000A>T (p.Lys667Ile)
c.1211A>T (p.Lys404Ile)
c.3038A>T (p.Lys1013Ile)
c.2465A>T (p.Lys822Ile)
c.2390A>T (p.Lys797Ile)
c.1067A>T (p.Lys356Ile)
3g.38894705T>CCA352174648SCN11Ac.2663A>G (p.Lys888Arg)
c.2483A>G (p.Lys828Arg)
c.2707A>G (n.2707A>G)
c.2282A>G (p.Lys761Arg)
c.2000A>G (p.Lys667Arg)
c.1211A>G (p.Lys404Arg)
c.3038A>G (p.Lys1013Arg)
c.2465A>G (p.Lys822Arg)
c.2390A>G (p.Lys797Arg)
c.1067A>G (p.Lys356Arg)
3g.38894705T>GCA352174649SCN11Ac.2663A>C (p.Lys888Thr)
c.2483A>C (p.Lys828Thr)
c.2707A>C (n.2707A>C)
c.2282A>C (p.Lys761Thr)
c.2000A>C (p.Lys667Thr)
c.1211A>C (p.Lys404Thr)
c.3038A>C (p.Lys1013Thr)
c.2465A>C (p.Lys822Thr)
c.2390A>C (p.Lys797Thr)
c.1067A>C (p.Lys356Thr)
3g.38894706T>ACA352174650SCN11Ac.2662A>T (p.Lys888Ter)
c.2482A>T (p.Lys828Ter)
c.2706A>T (n.2706A>T)
c.2281A>T (p.Lys761Ter)
c.1999A>T (p.Lys667Ter)
c.1210A>T (p.Lys404Ter)
c.3037A>T (p.Lys1013Ter)
c.2464A>T (p.Lys822Ter)
c.2389A>T (p.Lys797Ter)
c.1066A>T (p.Lys356Ter)
 dbSNP
3g.38894706T>CCA2321994SCN11Ac.2662A>G (p.Lys888Glu)
c.2482A>G (p.Lys828Glu)
c.2706A>G (n.2706A>G)
c.2281A>G (p.Lys761Glu)
c.1999A>G (p.Lys667Glu)
c.1210A>G (p.Lys404Glu)
c.3037A>G (p.Lys1013Glu)
c.2464A>G (p.Lys822Glu)
c.2389A>G (p.Lys797Glu)
c.1066A>G (p.Lys356Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894706T>GCA352174651SCN11Ac.2662A>C (p.Lys888Gln)
c.2482A>C (p.Lys828Gln)
c.2706A>C (n.2706A>C)
c.2281A>C (p.Lys761Gln)
c.1999A>C (p.Lys667Gln)
c.1210A>C (p.Lys404Gln)
c.3037A>C (p.Lys1013Gln)
c.2464A>C (p.Lys822Gln)
c.2389A>C (p.Lys797Gln)
c.1066A>C (p.Lys356Gln)
3g.38894706T=CA1358718180SCN11Ac.2662A= (p.Lys888=)
c.2482A= (p.Lys828=)
c.2706A= (n.2706A=)
c.2281A= (p.Lys761=)
c.1999A= (p.Lys667=)
c.1210A= (p.Lys404=)
c.3037A= (p.Lys1013=)
c.2464A= (p.Lys822=)
c.2389A= (p.Lys797=)
c.1066A= (p.Lys356=)
3g.38894707C>ACA352174652SCN11Ac.2661G>T (p.Met887Ile)
c.2481G>T (p.Met827Ile)
c.2705G>T (n.2705G>T)
c.2280G>T (p.Met760Ile)
c.1998G>T (p.Met666Ile)
c.1209G>T (p.Met403Ile)
c.3036G>T (p.Met1012Ile)
c.2463G>T (p.Met821Ile)
c.2388G>T (p.Met796Ile)
c.1065G>T (p.Met355Ile)
3g.38894707C=CA1358718181SCN11Ac.2661G= (p.Met887=)
c.2481G= (p.Met827=)
c.2705G= (n.2705G=)
c.2280G= (p.Met760=)
c.1998G= (p.Met666=)
c.1209G= (p.Met403=)
c.3036G= (p.Met1012=)
c.2463G= (p.Met821=)
c.2388G= (p.Met796=)
c.1065G= (p.Met355=)
3g.38894707C>GCA352174653SCN11Ac.2661G>C (p.Met887Ile)
c.2481G>C (p.Met827Ile)
c.2705G>C (n.2705G>C)
c.2280G>C (p.Met760Ile)
c.1998G>C (p.Met666Ile)
c.1209G>C (p.Met403Ile)
c.3036G>C (p.Met1012Ile)
c.2463G>C (p.Met821Ile)
c.2388G>C (p.Met796Ile)
c.1065G>C (p.Met355Ile)
3g.38894707C>TCA2321995SCN11Ac.2661G>A (p.Met887Ile)
c.2481G>A (p.Met827Ile)
c.2705G>A (n.2705G>A)
c.2280G>A (p.Met760Ile)
c.1998G>A (p.Met666Ile)
c.1209G>A (p.Met403Ile)
c.3036G>A (p.Met1012Ile)
c.2463G>A (p.Met821Ile)
c.2388G>A (p.Met796Ile)
c.1065G>A (p.Met355Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894708A=CA1358718182SCN11Ac.2660T= (p.Met887=)
c.2480T= (p.Met827=)
c.2704T= (n.2704T=)
c.2279T= (p.Met760=)
c.1997T= (p.Met666=)
c.1208T= (p.Met403=)
c.3035T= (p.Met1012=)
c.2462T= (p.Met821=)
c.2387T= (p.Met796=)
c.1064T= (p.Met355=)
3g.38894708A>CCA352174655SCN11Ac.2660T>G (p.Met887Arg)
c.2480T>G (p.Met827Arg)
c.2704T>G (n.2704T>G)
c.2279T>G (p.Met760Arg)
c.1997T>G (p.Met666Arg)
c.1208T>G (p.Met403Arg)
c.3035T>G (p.Met1012Arg)
c.2462T>G (p.Met821Arg)
c.2387T>G (p.Met796Arg)
c.1064T>G (p.Met355Arg)
 dbSNP
3g.38894708A>GCA2321996SCN11Ac.2660T>C (p.Met887Thr)
c.2480T>C (p.Met827Thr)
c.2704T>C (n.2704T>C)
c.2279T>C (p.Met760Thr)
c.1997T>C (p.Met666Thr)
c.1208T>C (p.Met403Thr)
c.3035T>C (p.Met1012Thr)
c.2462T>C (p.Met821Thr)
c.2387T>C (p.Met796Thr)
c.1064T>C (p.Met355Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894708A>TCA352174654SCN11Ac.2660T>A (p.Met887Lys)
c.2480T>A (p.Met827Lys)
c.2704T>A (n.2704T>A)
c.2279T>A (p.Met760Lys)
c.1997T>A (p.Met666Lys)
c.1208T>A (p.Met403Lys)
c.3035T>A (p.Met1012Lys)
c.2462T>A (p.Met821Lys)
c.2387T>A (p.Met796Lys)
c.1064T>A (p.Met355Lys)
 ClinVar dbSNP
3g.38894709T>ACA352174656SCN11Ac.2659A>T (p.Met887Leu)
c.2479A>T (p.Met827Leu)
c.2703A>T (n.2703A>T)
c.2278A>T (p.Met760Leu)
c.1996A>T (p.Met666Leu)
c.1207A>T (p.Met403Leu)
c.3034A>T (p.Met1012Leu)
c.2461A>T (p.Met821Leu)
c.2386A>T (p.Met796Leu)
c.1063A>T (p.Met355Leu)
3g.38894709T>CCA352174657SCN11Ac.2659A>G (p.Met887Val)
c.2479A>G (p.Met827Val)
c.2703A>G (n.2703A>G)
c.2278A>G (p.Met760Val)
c.1996A>G (p.Met666Val)
c.1207A>G (p.Met403Val)
c.3034A>G (p.Met1012Val)
c.2461A>G (p.Met821Val)
c.2386A>G (p.Met796Val)
c.1063A>G (p.Met355Val)
3g.38894709T>GCA352174658SCN11Ac.2659A>C (p.Met887Leu)
c.2479A>C (p.Met827Leu)
c.2703A>C (n.2703A>C)
c.2278A>C (p.Met760Leu)
c.1996A>C (p.Met666Leu)
c.1207A>C (p.Met403Leu)
c.3034A>C (p.Met1012Leu)
c.2461A>C (p.Met821Leu)
c.2386A>C (p.Met796Leu)
c.1063A>C (p.Met355Leu)
3g.38894710C>ACA352174659SCN11Ac.2658G>T (p.Glu886Asp)
c.2478G>T (p.Glu826Asp)
c.2702G>T (n.2702G>T)
c.2277G>T (p.Glu759Asp)
c.1995G>T (p.Glu665Asp)
c.1206G>T (p.Glu402Asp)
c.3033G>T (p.Glu1011Asp)
c.2460G>T (p.Glu820Asp)
c.2385G>T (p.Glu795Asp)
c.1062G>T (p.Glu354Asp)
3g.38894710C>GCA352174660SCN11Ac.2658G>C (p.Glu886Asp)
c.2478G>C (p.Glu826Asp)
c.2702G>C (n.2702G>C)
c.2277G>C (p.Glu759Asp)
c.1995G>C (p.Glu665Asp)
c.1206G>C (p.Glu402Asp)
c.3033G>C (p.Glu1011Asp)
c.2460G>C (p.Glu820Asp)
c.2385G>C (p.Glu795Asp)
c.1062G>C (p.Glu354Asp)
3g.38894710C>TCA433336085SCN11Ac.2658G>A (p.Glu886=)
c.2478G>A (p.Glu826=)
c.2702G>A (n.2702G>A)
c.2277G>A (p.Glu759=)
c.1995G>A (p.Glu665=)
c.1206G>A (p.Glu402=)
c.3033G>A (p.Glu1011=)
c.2460G>A (p.Glu820=)
c.2385G>A (p.Glu795=)
c.1062G>A (p.Glu354=)
3g.38894711T>ACA352174661SCN11Ac.2657A>T (p.Glu886Val)
c.2477A>T (p.Glu826Val)
c.2701A>T (n.2701A>T)
c.2276A>T (p.Glu759Val)
c.1994A>T (p.Glu665Val)
c.1205A>T (p.Glu402Val)
c.3032A>T (p.Glu1011Val)
c.2459A>T (p.Glu820Val)
c.2384A>T (p.Glu795Val)
c.1061A>T (p.Glu354Val)
3g.38894711T>CCA352174662SCN11Ac.2657A>G (p.Glu886Gly)
c.2477A>G (p.Glu826Gly)
c.2701A>G (n.2701A>G)
c.2276A>G (p.Glu759Gly)
c.1994A>G (p.Glu665Gly)
c.1205A>G (p.Glu402Gly)
c.3032A>G (p.Glu1011Gly)
c.2459A>G (p.Glu820Gly)
c.2384A>G (p.Glu795Gly)
c.1061A>G (p.Glu354Gly)
3g.38894711T>GCA352174663SCN11Ac.2657A>C (p.Glu886Ala)
c.2477A>C (p.Glu826Ala)
c.2701A>C (n.2701A>C)
c.2276A>C (p.Glu759Ala)
c.1994A>C (p.Glu665Ala)
c.1205A>C (p.Glu402Ala)
c.3032A>C (p.Glu1011Ala)
c.2459A>C (p.Glu820Ala)
c.2384A>C (p.Glu795Ala)
c.1061A>C (p.Glu354Ala)
3g.38894712C>ACA2321997SCN11Ac.2656G>T (p.Glu886Ter)
c.2476G>T (p.Glu826Ter)
c.2700G>T (n.2700G>T)
c.2275G>T (p.Glu759Ter)
c.1993G>T (p.Glu665Ter)
c.1204G>T (p.Glu402Ter)
c.3031G>T (p.Glu1011Ter)
c.2458G>T (p.Glu820Ter)
c.2383G>T (p.Glu795Ter)
c.1060G>T (p.Glu354Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894712C=CA1358718183SCN11Ac.2656G= (p.Glu886=)
c.2476G= (p.Glu826=)
c.2700G= (n.2700G=)
c.2275G= (p.Glu759=)
c.1993G= (p.Glu665=)
c.1204G= (p.Glu402=)
c.3031G= (p.Glu1011=)
c.2458G= (p.Glu820=)
c.2383G= (p.Glu795=)
c.1060G= (p.Glu354=)
3g.38894712C>GCA352174664SCN11Ac.2656G>C (p.Glu886Gln)
c.2476G>C (p.Glu826Gln)
c.2700G>C (n.2700G>C)
c.2275G>C (p.Glu759Gln)
c.1993G>C (p.Glu665Gln)
c.1204G>C (p.Glu402Gln)
c.3031G>C (p.Glu1011Gln)
c.2458G>C (p.Glu820Gln)
c.2383G>C (p.Glu795Gln)
c.1060G>C (p.Glu354Gln)
3g.38894712C>TCA352174665SCN11Ac.2656G>A (p.Glu886Lys)
c.2476G>A (p.Glu826Lys)
c.2700G>A (n.2700G>A)
c.2275G>A (p.Glu759Lys)
c.1993G>A (p.Glu665Lys)
c.1204G>A (p.Glu402Lys)
c.3031G>A (p.Glu1011Lys)
c.2458G>A (p.Glu820Lys)
c.2383G>A (p.Glu795Lys)
c.1060G>A (p.Glu354Lys)
 COSMIC
3g.38894713C>ACA352174668SCN11Ac.2655G>T (p.Met885Ile)
c.2475G>T (p.Met825Ile)
c.2699G>T (n.2699G>T)
c.2274G>T (p.Met758Ile)
c.1992G>T (p.Met664Ile)
c.1203G>T (p.Met401Ile)
c.3030G>T (p.Met1010Ile)
c.2457G>T (p.Met819Ile)
c.2382G>T (p.Met794Ile)
c.1059G>T (p.Met353Ile)
3g.38894713C=CA1358718184SCN11Ac.2655G= (p.Met885=)
c.2475G= (p.Met825=)
c.2699G= (n.2699G=)
c.2274G= (p.Met758=)
c.1992G= (p.Met664=)
c.1203G= (p.Met401=)
c.3030G= (p.Met1010=)
c.2457G= (p.Met819=)
c.2382G= (p.Met794=)
c.1059G= (p.Met353=)
3g.38894713C>GCA352174667SCN11Ac.2655G>C (p.Met885Ile)
c.2475G>C (p.Met825Ile)
c.2699G>C (n.2699G>C)
c.2274G>C (p.Met758Ile)
c.1992G>C (p.Met664Ile)
c.1203G>C (p.Met401Ile)
c.3030G>C (p.Met1010Ile)
c.2457G>C (p.Met819Ile)
c.2382G>C (p.Met794Ile)
c.1059G>C (p.Met353Ile)
3g.38894713C>TCA352174666SCN11Ac.2655G>A (p.Met885Ile)
c.2475G>A (p.Met825Ile)
c.2699G>A (n.2699G>A)
c.2274G>A (p.Met758Ile)
c.1992G>A (p.Met664Ile)
c.1203G>A (p.Met401Ile)
c.3030G>A (p.Met1010Ile)
c.2457G>A (p.Met819Ile)
c.2382G>A (p.Met794Ile)
c.1059G>A (p.Met353Ile)
 ClinVar dbSNP
3g.38894714A=CA1358718185SCN11Ac.2654T= (p.Met885=)
c.2474T= (p.Met825=)
c.2698T= (n.2698T=)
c.2273T= (p.Met758=)
c.1991T= (p.Met664=)
c.1202T= (p.Met401=)
c.3029T= (p.Met1010=)
c.2456T= (p.Met819=)
c.2381T= (p.Met794=)
c.1058T= (p.Met353=)
3g.38894714A>CCA352174669SCN11Ac.2654T>G (p.Met885Arg)
c.2474T>G (p.Met825Arg)
c.2698T>G (n.2698T>G)
c.2273T>G (p.Met758Arg)
c.1991T>G (p.Met664Arg)
c.1202T>G (p.Met401Arg)
c.3029T>G (p.Met1010Arg)
c.2456T>G (p.Met819Arg)
c.2381T>G (p.Met794Arg)
c.1058T>G (p.Met353Arg)
3g.38894714A>GCA352174671SCN11Ac.2654T>C (p.Met885Thr)
c.2474T>C (p.Met825Thr)
c.2698T>C (n.2698T>C)
c.2273T>C (p.Met758Thr)
c.1991T>C (p.Met664Thr)
c.1202T>C (p.Met401Thr)
c.3029T>C (p.Met1010Thr)
c.2456T>C (p.Met819Thr)
c.2381T>C (p.Met794Thr)
c.1058T>C (p.Met353Thr)
 ClinVar dbSNP gnomAD v4
3g.38894714A>TCA352174670SCN11Ac.2654T>A (p.Met885Lys)
c.2474T>A (p.Met825Lys)
c.2698T>A (n.2698T>A)
c.2273T>A (p.Met758Lys)
c.1991T>A (p.Met664Lys)
c.1202T>A (p.Met401Lys)
c.3029T>A (p.Met1010Lys)
c.2456T>A (p.Met819Lys)
c.2381T>A (p.Met794Lys)
c.1058T>A (p.Met353Lys)
3g.38894715T>ACA2321998SCN11Ac.2653A>T (p.Met885Leu)
c.2473A>T (p.Met825Leu)
c.2697A>T (n.2697A>T)
c.2272A>T (p.Met758Leu)
c.1990A>T (p.Met664Leu)
c.1201A>T (p.Met401Leu)
c.3028A>T (p.Met1010Leu)
c.2455A>T (p.Met819Leu)
c.2380A>T (p.Met794Leu)
c.1057A>T (p.Met353Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894715T>CCA2321999SCN11Ac.2653A>G (p.Met885Val)
c.2473A>G (p.Met825Val)
c.2697A>G (n.2697A>G)
c.2272A>G (p.Met758Val)
c.1990A>G (p.Met664Val)
c.1201A>G (p.Met401Val)
c.3028A>G (p.Met1010Val)
c.2455A>G (p.Met819Val)
c.2380A>G (p.Met794Val)
c.1057A>G (p.Met353Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894715T>GCA352174672SCN11Ac.2653A>C (p.Met885Leu)
c.2473A>C (p.Met825Leu)
c.2697A>C (n.2697A>C)
c.2272A>C (p.Met758Leu)
c.1990A>C (p.Met664Leu)
c.1201A>C (p.Met401Leu)
c.3028A>C (p.Met1010Leu)
c.2455A>C (p.Met819Leu)
c.2380A>C (p.Met794Leu)
c.1057A>C (p.Met353Leu)
3g.38894715T=CA1358718186SCN11Ac.2653A= (p.Met885=)
c.2473A= (p.Met825=)
c.2697A= (n.2697A=)
c.2272A= (p.Met758=)
c.1990A= (p.Met664=)
c.1201A= (p.Met401=)
c.3028A= (p.Met1010=)
c.2455A= (p.Met819=)
c.2380A= (p.Met794=)
c.1057A= (p.Met353=)
3g.38894716G>ACA433336092SCN11Ac.2652C>T (p.Val884=)
c.2472C>T (p.Val824=)
c.2696C>T (n.2696C>T)
c.2271C>T (p.Val757=)
c.1989C>T (p.Val663=)
c.1200C>T (p.Val400=)
c.3027C>T (p.Val1009=)
c.2454C>T (p.Val818=)
c.2379C>T (p.Val793=)
c.1056C>T (p.Val352=)
3g.38894716G>CCA433336093SCN11Ac.2652C>G (p.Val884=)
c.2472C>G (p.Val824=)
c.2696C>G (n.2696C>G)
c.2271C>G (p.Val757=)
c.1989C>G (p.Val663=)
c.1200C>G (p.Val400=)
c.3027C>G (p.Val1009=)
c.2454C>G (p.Val818=)
c.2379C>G (p.Val793=)
c.1056C>G (p.Val352=)
3g.38894716G>TCA433336094SCN11Ac.2652C>A (p.Val884=)
c.2472C>A (p.Val824=)
c.2696C>A (n.2696C>A)
c.2271C>A (p.Val757=)
c.1989C>A (p.Val663=)
c.1200C>A (p.Val400=)
c.3027C>A (p.Val1009=)
c.2454C>A (p.Val818=)
c.2379C>A (p.Val793=)
c.1056C>A (p.Val352=)
 gnomAD v4
3g.38894717A>CCA352174673SCN11Ac.2651T>G (p.Val884Gly)
c.2471T>G (p.Val824Gly)
c.2695T>G (n.2695T>G)
c.2270T>G (p.Val757Gly)
c.1988T>G (p.Val663Gly)
c.1199T>G (p.Val400Gly)
c.3026T>G (p.Val1009Gly)
c.2453T>G (p.Val818Gly)
c.2378T>G (p.Val793Gly)
c.1055T>G (p.Val352Gly)
3g.38894717A>GCA352174675SCN11Ac.2651T>C (p.Val884Ala)
c.2471T>C (p.Val824Ala)
c.2695T>C (n.2695T>C)
c.2270T>C (p.Val757Ala)
c.1988T>C (p.Val663Ala)
c.1199T>C (p.Val400Ala)
c.3026T>C (p.Val1009Ala)
c.2453T>C (p.Val818Ala)
c.2378T>C (p.Val793Ala)
c.1055T>C (p.Val352Ala)
 COSMIC
3g.38894717A>TCA352174674SCN11Ac.2651T>A (p.Val884Asp)
c.2471T>A (p.Val824Asp)
c.2695T>A (n.2695T>A)
c.2270T>A (p.Val757Asp)
c.1988T>A (p.Val663Asp)
c.1199T>A (p.Val400Asp)
c.3026T>A (p.Val1009Asp)
c.2453T>A (p.Val818Asp)
c.2378T>A (p.Val793Asp)
c.1055T>A (p.Val352Asp)
 gnomAD v4
3g.38894718C>ACA352174676SCN11Ac.2650G>T (p.Val884Phe)
c.2470G>T (p.Val824Phe)
c.2694G>T (n.2694G>T)
c.2269G>T (p.Val757Phe)
c.1987G>T (p.Val663Phe)
c.1198G>T (p.Val400Phe)
c.3025G>T (p.Val1009Phe)
c.2452G>T (p.Val818Phe)
c.2377G>T (p.Val793Phe)
c.1054G>T (p.Val352Phe)
3g.38894718C=CA1358718187SCN11Ac.2650G= (p.Val884=)
c.2470G= (p.Val824=)
c.2694G= (n.2694G=)
c.2269G= (p.Val757=)
c.1987G= (p.Val663=)
c.1198G= (p.Val400=)
c.3025G= (p.Val1009=)
c.2452G= (p.Val818=)
c.2377G= (p.Val793=)
c.1054G= (p.Val352=)
3g.38894718C>GCA72997541SCN11Ac.2650G>C (p.Val884Leu)
c.2470G>C (p.Val824Leu)
c.2694G>C (n.2694G>C)
c.2269G>C (p.Val757Leu)
c.1987G>C (p.Val663Leu)
c.1198G>C (p.Val400Leu)
c.3025G>C (p.Val1009Leu)
c.2452G>C (p.Val818Leu)
c.2377G>C (p.Val793Leu)
c.1054G>C (p.Val352Leu)
 dbSNP
3g.38894718C>TCA352174677SCN11Ac.2650G>A (p.Val884Ile)
c.2470G>A (p.Val824Ile)
c.2694G>A (n.2694G>A)
c.2269G>A (p.Val757Ile)
c.1987G>A (p.Val663Ile)
c.1198G>A (p.Val400Ile)
c.3025G>A (p.Val1009Ile)
c.2452G>A (p.Val818Ile)
c.2377G>A (p.Val793Ile)
c.1054G>A (p.Val352Ile)
 COSMIC
3g.38894719C>ACA2322001SCN11Ac.2649G>T (p.Leu883=)
c.2469G>T (p.Leu823=)
c.2693G>T (n.2693G>T)
c.2268G>T (p.Leu756=)
c.1986G>T (p.Leu662=)
c.1197G>T (p.Leu399=)
c.3024G>T (p.Leu1008=)
c.2451G>T (p.Leu817=)
c.2376G>T (p.Leu792=)
c.1053G>T (p.Leu351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894719C=CA1358718188SCN11Ac.2649G= (p.Leu883=)
c.2469G= (p.Leu823=)
c.2693G= (n.2693G=)
c.2268G= (p.Leu756=)
c.1986G= (p.Leu662=)
c.1197G= (p.Leu399=)
c.3024G= (p.Leu1008=)
c.2451G= (p.Leu817=)
c.2376G= (p.Leu792=)
c.1053G= (p.Leu351=)
3g.38894719C>GCA2322000SCN11Ac.2649G>C (p.Leu883=)
c.2469G>C (p.Leu823=)
c.2693G>C (n.2693G>C)
c.2268G>C (p.Leu756=)
c.1986G>C (p.Leu662=)
c.1197G>C (p.Leu399=)
c.3024G>C (p.Leu1008=)
c.2451G>C (p.Leu817=)
c.2376G>C (p.Leu792=)
c.1053G>C (p.Leu351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894719C>TCA433336096SCN11Ac.2649G>A (p.Leu883=)
c.2469G>A (p.Leu823=)
c.2693G>A (n.2693G>A)
c.2268G>A (p.Leu756=)
c.1986G>A (p.Leu662=)
c.1197G>A (p.Leu399=)
c.3024G>A (p.Leu1008=)
c.2451G>A (p.Leu817=)
c.2376G>A (p.Leu792=)
c.1053G>A (p.Leu351=)
3g.38894720delCA2665127320SCN11Ac.2648del (p.Leu883ArgfsTer5)
c.2468del (p.Leu823ArgfsTer5)
c.2692del (n.2692del)
c.2267del (p.Leu756ArgfsTer5)
c.1985del (p.Leu662ArgfsTer5)
c.1196del (p.Leu399ArgfsTer5)
c.3023del (p.Leu1008ArgfsTer5)
c.2450del (p.Leu817ArgfsTer5)
c.2375del (p.Leu792ArgfsTer5)
c.1052del (p.Leu351ArgfsTer5)
 gnomAD v4
3g.38894720A>CCA352174678SCN11Ac.2648T>G (p.Leu883Arg)
c.2468T>G (p.Leu823Arg)
c.2692T>G (n.2692T>G)
c.2267T>G (p.Leu756Arg)
c.1985T>G (p.Leu662Arg)
c.1196T>G (p.Leu399Arg)
c.3023T>G (p.Leu1008Arg)
c.2450T>G (p.Leu817Arg)
c.2375T>G (p.Leu792Arg)
c.1052T>G (p.Leu351Arg)
3g.38894720A>GCA352174679SCN11Ac.2648T>C (p.Leu883Pro)
c.2468T>C (p.Leu823Pro)
c.2692T>C (n.2692T>C)
c.2267T>C (p.Leu756Pro)
c.1985T>C (p.Leu662Pro)
c.1196T>C (p.Leu399Pro)
c.3023T>C (p.Leu1008Pro)
c.2450T>C (p.Leu817Pro)
c.2375T>C (p.Leu792Pro)
c.1052T>C (p.Leu351Pro)
3g.38894720A>TCA352174680SCN11Ac.2648T>A (p.Leu883Gln)
c.2468T>A (p.Leu823Gln)
c.2692T>A (n.2692T>A)
c.2267T>A (p.Leu756Gln)
c.1985T>A (p.Leu662Gln)
c.1196T>A (p.Leu399Gln)
c.3023T>A (p.Leu1008Gln)
c.2450T>A (p.Leu817Gln)
c.2375T>A (p.Leu792Gln)
c.1052T>A (p.Leu351Gln)
3g.38894721G>ACA433336097SCN11Ac.2647C>T (p.Leu883=)
c.2467C>T (p.Leu823=)
c.2691C>T (n.2691C>T)
c.2266C>T (p.Leu756=)
c.1984C>T (p.Leu662=)
c.1195C>T (p.Leu399=)
c.3022C>T (p.Leu1008=)
c.2449C>T (p.Leu817=)
c.2374C>T (p.Leu792=)
c.1051C>T (p.Leu351=)
 dbSNP gnomAD v3 gnomAD v4
3g.38894721G>CCA352174681SCN11Ac.2647C>G (p.Leu883Val)
c.2467C>G (p.Leu823Val)
c.2691C>G (n.2691C>G)
c.2266C>G (p.Leu756Val)
c.1984C>G (p.Leu662Val)
c.1195C>G (p.Leu399Val)
c.3022C>G (p.Leu1008Val)
c.2449C>G (p.Leu817Val)
c.2374C>G (p.Leu792Val)
c.1051C>G (p.Leu351Val)
3g.38894721G=CA1358718189SCN11Ac.2647C= (p.Leu883=)
c.2467C= (p.Leu823=)
c.2691C= (n.2691C=)
c.2266C= (p.Leu756=)
c.1984C= (p.Leu662=)
c.1195C= (p.Leu399=)
c.3022C= (p.Leu1008=)
c.2449C= (p.Leu817=)
c.2374C= (p.Leu792=)
c.1051C= (p.Leu351=)
3g.38894721G>TCA352174682SCN11Ac.2647C>A (p.Leu883Met)
c.2467C>A (p.Leu823Met)
c.2691C>A (n.2691C>A)
c.2266C>A (p.Leu756Met)
c.1984C>A (p.Leu662Met)
c.1195C>A (p.Leu399Met)
c.3022C>A (p.Leu1008Met)
c.2449C>A (p.Leu817Met)
c.2374C>A (p.Leu792Met)
c.1051C>A (p.Leu351Met)
3g.38894722G>ACA2322002SCN11Ac.2646C>T (p.Pro882=)
c.2466C>T (p.Pro822=)
c.2690C>T (n.2690C>T)
c.2265C>T (p.Pro755=)
c.1983C>T (p.Pro661=)
c.1194C>T (p.Pro398=)
c.3021C>T (p.Pro1007=)
c.2448C>T (p.Pro816=)
c.2373C>T (p.Pro791=)
c.1050C>T (p.Pro350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894722G>CCA433336098SCN11Ac.2646C>G (p.Pro882=)
c.2466C>G (p.Pro822=)
c.2690C>G (n.2690C>G)
c.2265C>G (p.Pro755=)
c.1983C>G (p.Pro661=)
c.1194C>G (p.Pro398=)
c.3021C>G (p.Pro1007=)
c.2448C>G (p.Pro816=)
c.2373C>G (p.Pro791=)
c.1050C>G (p.Pro350=)
3g.38894722G=CA1358718190SCN11Ac.2646C= (p.Pro882=)
c.2466C= (p.Pro822=)
c.2690C= (n.2690C=)
c.2265C= (p.Pro755=)
c.1983C= (p.Pro661=)
c.1194C= (p.Pro398=)
c.3021C= (p.Pro1007=)
c.2448C= (p.Pro816=)
c.2373C= (p.Pro791=)
c.1050C= (p.Pro350=)
3g.38894722G>TCA433336099SCN11Ac.2646C>A (p.Pro882=)
c.2466C>A (p.Pro822=)
c.2690C>A (n.2690C>A)
c.2265C>A (p.Pro755=)
c.1983C>A (p.Pro661=)
c.1194C>A (p.Pro398=)
c.3021C>A (p.Pro1007=)
c.2448C>A (p.Pro816=)
c.2373C>A (p.Pro791=)
c.1050C>A (p.Pro350=)
3g.38894722_38894723delinsAACA72997563SCN11Ac.2645_2646delinsTT (p.Pro882Leu)
c.2465_2466delinsTT (p.Pro822Leu)
c.2689_2690delinsTT (n.2689_2690delinsTT)
c.2264_2265delinsTT (p.Pro755Leu)
c.1982_1983delinsTT (p.Pro661Leu)
c.1193_1194delinsTT (p.Pro398Leu)
c.3020_3021delinsTT (p.Pro1007Leu)
c.2447_2448delinsTT (p.Pro816Leu)
c.2372_2373delinsTT (p.Pro791Leu)
c.1049_1050delinsTT (p.Pro350Leu)
 dbSNP
3g.38894722_38894723delinsGGCA1358718191SCN11Ac.2645_2646delinsCC (p.Pro882=)
c.2465_2466delinsCC (p.Pro822=)
c.2689_2690delinsCC (n.2689_2690delinsCC)
c.2264_2265delinsCC (p.Pro755=)
c.1982_1983delinsCC (p.Pro661=)
c.1193_1194delinsCC (p.Pro398=)
c.3020_3021delinsCC (p.Pro1007=)
c.2447_2448delinsCC (p.Pro816=)
c.2372_2373delinsCC (p.Pro791=)
c.1049_1050delinsCC (p.Pro350=)
3g.38894723G>ACA352174685SCN11Ac.2645C>T (p.Pro882Leu)
c.2465C>T (p.Pro822Leu)
c.2689C>T (n.2689C>T)
c.2264C>T (p.Pro755Leu)
c.1982C>T (p.Pro661Leu)
c.1193C>T (p.Pro398Leu)
c.3020C>T (p.Pro1007Leu)
c.2447C>T (p.Pro816Leu)
c.2372C>T (p.Pro791Leu)
c.1049C>T (p.Pro350Leu)
 gnomAD v4 COSMIC
3g.38894723G>CCA352174683SCN11Ac.2645C>G (p.Pro882Arg)
c.2465C>G (p.Pro822Arg)
c.2689C>G (n.2689C>G)
c.2264C>G (p.Pro755Arg)
c.1982C>G (p.Pro661Arg)
c.1193C>G (p.Pro398Arg)
c.3020C>G (p.Pro1007Arg)
c.2447C>G (p.Pro816Arg)
c.2372C>G (p.Pro791Arg)
c.1049C>G (p.Pro350Arg)
 gnomAD v4
3g.38894723G>TCA352174684SCN11Ac.2645C>A (p.Pro882His)
c.2465C>A (p.Pro822His)
c.2689C>A (n.2689C>A)
c.2264C>A (p.Pro755His)
c.1982C>A (p.Pro661His)
c.1193C>A (p.Pro398His)
c.3020C>A (p.Pro1007His)
c.2447C>A (p.Pro816His)
c.2372C>A (p.Pro791His)
c.1049C>A (p.Pro350His)
3g.38894723_38894724delinsAACA645525912SCN11Ac.2644_2645delinsTT (p.Pro882Phe)
c.2464_2465delinsTT (p.Pro822Phe)
c.2688_2689delinsTT (n.2688_2689delinsTT)
c.2263_2264delinsTT (p.Pro755Phe)
c.1981_1982delinsTT (p.Pro661Phe)
c.1192_1193delinsTT (p.Pro398Phe)
c.3019_3020delinsTT (p.Pro1007Phe)
c.2446_2447delinsTT (p.Pro816Phe)
c.2371_2372delinsTT (p.Pro791Phe)
c.1048_1049delinsTT (p.Pro350Phe)
 COSMIC
3g.38894724G>ACA352174686SCN11Ac.2644C>T (p.Pro882Ser)
c.2464C>T (p.Pro822Ser)
c.2688C>T (n.2688C>T)
c.2263C>T (p.Pro755Ser)
c.1981C>T (p.Pro661Ser)
c.1192C>T (p.Pro398Ser)
c.3019C>T (p.Pro1007Ser)
c.2446C>T (p.Pro816Ser)
c.2371C>T (p.Pro791Ser)
c.1048C>T (p.Pro350Ser)
 ClinVar dbSNP COSMIC
3g.38894724G>CCA352174687SCN11Ac.2644C>G (p.Pro882Ala)
c.2464C>G (p.Pro822Ala)
c.2688C>G (n.2688C>G)
c.2263C>G (p.Pro755Ala)
c.1981C>G (p.Pro661Ala)
c.1192C>G (p.Pro398Ala)
c.3019C>G (p.Pro1007Ala)
c.2446C>G (p.Pro816Ala)
c.2371C>G (p.Pro791Ala)
c.1048C>G (p.Pro350Ala)
3g.38894724G=CA1358718192SCN11Ac.2644C= (p.Pro882=)
c.2464C= (p.Pro822=)
c.2688C= (n.2688C=)
c.2263C= (p.Pro755=)
c.1981C= (p.Pro661=)
c.1192C= (p.Pro398=)
c.3019C= (p.Pro1007=)
c.2446C= (p.Pro816=)
c.2371C= (p.Pro791=)
c.1048C= (p.Pro350=)
3g.38894724G>TCA352174688SCN11Ac.2644C>A (p.Pro882Thr)
c.2464C>A (p.Pro822Thr)
c.2688C>A (n.2688C>A)
c.2263C>A (p.Pro755Thr)
c.1981C>A (p.Pro661Thr)
c.1192C>A (p.Pro398Thr)
c.3019C>A (p.Pro1007Thr)
c.2446C>A (p.Pro816Thr)
c.2371C>A (p.Pro791Thr)
c.1048C>A (p.Pro350Thr)
3g.38894725A>CCA352174689SCN11Ac.2643T>G (p.Ile881Met)
c.2463T>G (p.Ile821Met)
c.2687T>G (n.2687T>G)
c.2262T>G (p.Ile754Met)
c.1980T>G (p.Ile660Met)
c.1191T>G (p.Ile397Met)
c.3018T>G (p.Ile1006Met)
c.2445T>G (p.Ile815Met)
c.2370T>G (p.Ile790Met)
c.1047T>G (p.Ile349Met)
3g.38894725A>GCA433336067SCN11Ac.2643T>C (p.Ile881=)
c.2463T>C (p.Ile821=)
c.2687T>C (n.2687T>C)
c.2262T>C (p.Ile754=)
c.1980T>C (p.Ile660=)
c.1191T>C (p.Ile397=)
c.3018T>C (p.Ile1006=)
c.2445T>C (p.Ile815=)
c.2370T>C (p.Ile790=)
c.1047T>C (p.Ile349=)
3g.38894725A>TCA433336068SCN11Ac.2643T>A (p.Ile881=)
c.2463T>A (p.Ile821=)
c.2687T>A (n.2687T>A)
c.2262T>A (p.Ile754=)
c.1980T>A (p.Ile660=)
c.1191T>A (p.Ile397=)
c.3018T>A (p.Ile1006=)
c.2445T>A (p.Ile815=)
c.2370T>A (p.Ile790=)
c.1047T>A (p.Ile349=)
3g.38894726A>CCA352174690SCN11Ac.2642T>G (p.Ile881Ser)
c.2462T>G (p.Ile821Ser)
c.2686T>G (n.2686T>G)
c.2261T>G (p.Ile754Ser)
c.1979T>G (p.Ile660Ser)
c.1190T>G (p.Ile397Ser)
c.3017T>G (p.Ile1006Ser)
c.2444T>G (p.Ile815Ser)
c.2369T>G (p.Ile790Ser)
c.1046T>G (p.Ile349Ser)
3g.38894726A>GCA352174691SCN11Ac.2642T>C (p.Ile881Thr)
c.2462T>C (p.Ile821Thr)
c.2686T>C (n.2686T>C)
c.2261T>C (p.Ile754Thr)
c.1979T>C (p.Ile660Thr)
c.1190T>C (p.Ile397Thr)
c.3017T>C (p.Ile1006Thr)
c.2444T>C (p.Ile815Thr)
c.2369T>C (p.Ile790Thr)
c.1046T>C (p.Ile349Thr)
3g.38894726A>TCA352174692SCN11Ac.2642T>A (p.Ile881Asn)
c.2462T>A (p.Ile821Asn)
c.2686T>A (n.2686T>A)
c.2261T>A (p.Ile754Asn)
c.1979T>A (p.Ile660Asn)
c.1190T>A (p.Ile397Asn)
c.3017T>A (p.Ile1006Asn)
c.2444T>A (p.Ile815Asn)
c.2369T>A (p.Ile790Asn)
c.1046T>A (p.Ile349Asn)
3g.38894727T>ACA352174693SCN11Ac.2641A>T (p.Ile881Phe)
c.2461A>T (p.Ile821Phe)
c.2685A>T (n.2685A>T)
c.2260A>T (p.Ile754Phe)
c.1978A>T (p.Ile660Phe)
c.1189A>T (p.Ile397Phe)
c.3016A>T (p.Ile1006Phe)
c.2443A>T (p.Ile815Phe)
c.2368A>T (p.Ile790Phe)
c.1045A>T (p.Ile349Phe)
 gnomAD v4
3g.38894727T>CCA2322003SCN11Ac.2641A>G (p.Ile881Val)
c.2461A>G (p.Ile821Val)
c.2685A>G (n.2685A>G)
c.2260A>G (p.Ile754Val)
c.1978A>G (p.Ile660Val)
c.1189A>G (p.Ile397Val)
c.3016A>G (p.Ile1006Val)
c.2443A>G (p.Ile815Val)
c.2368A>G (p.Ile790Val)
c.1045A>G (p.Ile349Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894727T>GCA352174694SCN11Ac.2641A>C (p.Ile881Leu)
c.2461A>C (p.Ile821Leu)
c.2685A>C (n.2685A>C)
c.2260A>C (p.Ile754Leu)
c.1978A>C (p.Ile660Leu)
c.1189A>C (p.Ile397Leu)
c.3016A>C (p.Ile1006Leu)
c.2443A>C (p.Ile815Leu)
c.2368A>C (p.Ile790Leu)
c.1045A>C (p.Ile349Leu)
3g.38894727T=CA1358718193SCN11Ac.2641A= (p.Ile881=)
c.2461A= (p.Ile821=)
c.2685A= (n.2685A=)
c.2260A= (p.Ile754=)
c.1978A= (p.Ile660=)
c.1189A= (p.Ile397=)
c.3016A= (p.Ile1006=)
c.2443A= (p.Ile815=)
c.2368A= (p.Ile790=)
c.1045A= (p.Ile349=)
3g.38894728G>ACA433336070SCN11Ac.2640C>T (p.Ile880=)
c.2460C>T (p.Ile820=)
c.2684C>T (n.2684C>T)
c.2259C>T (p.Ile753=)
c.1977C>T (p.Ile659=)
c.1188C>T (p.Ile396=)
c.3015C>T (p.Ile1005=)
c.2442C>T (p.Ile814=)
c.2367C>T (p.Ile789=)
c.1044C>T (p.Ile348=)
3g.38894728G>CCA352174695SCN11Ac.2640C>G (p.Ile880Met)
c.2460C>G (p.Ile820Met)
c.2684C>G (n.2684C>G)
c.2259C>G (p.Ile753Met)
c.1977C>G (p.Ile659Met)
c.1188C>G (p.Ile396Met)
c.3015C>G (p.Ile1005Met)
c.2442C>G (p.Ile814Met)
c.2367C>G (p.Ile789Met)
c.1044C>G (p.Ile348Met)
3g.38894728G>TCA433336071SCN11Ac.2640C>A (p.Ile880=)
c.2460C>A (p.Ile820=)
c.2684C>A (n.2684C>A)
c.2259C>A (p.Ile753=)
c.1977C>A (p.Ile659=)
c.1188C>A (p.Ile396=)
c.3015C>A (p.Ile1005=)
c.2442C>A (p.Ile814=)
c.2367C>A (p.Ile789=)
c.1044C>A (p.Ile348=)
 gnomAD v4
3g.38894729A>CCA352174698SCN11Ac.2639T>G (p.Ile880Ser)
c.2459T>G (p.Ile820Ser)
c.2683T>G (n.2683T>G)
c.2258T>G (p.Ile753Ser)
c.1976T>G (p.Ile659Ser)
c.1187T>G (p.Ile396Ser)
c.3014T>G (p.Ile1005Ser)
c.2441T>G (p.Ile814Ser)
c.2366T>G (p.Ile789Ser)
c.1043T>G (p.Ile348Ser)
3g.38894729A>GCA352174696SCN11Ac.2639T>C (p.Ile880Thr)
c.2459T>C (p.Ile820Thr)
c.2683T>C (n.2683T>C)
c.2258T>C (p.Ile753Thr)
c.1976T>C (p.Ile659Thr)
c.1187T>C (p.Ile396Thr)
c.3014T>C (p.Ile1005Thr)
c.2441T>C (p.Ile814Thr)
c.2366T>C (p.Ile789Thr)
c.1043T>C (p.Ile348Thr)
3g.38894729A>TCA352174697SCN11Ac.2639T>A (p.Ile880Asn)
c.2459T>A (p.Ile820Asn)
c.2683T>A (n.2683T>A)
c.2258T>A (p.Ile753Asn)
c.1976T>A (p.Ile659Asn)
c.1187T>A (p.Ile396Asn)
c.3014T>A (p.Ile1005Asn)
c.2441T>A (p.Ile814Asn)
c.2366T>A (p.Ile789Asn)
c.1043T>A (p.Ile348Asn)
3g.38894730T>ACA2322004SCN11Ac.2638A>T (p.Ile880Phe)
c.2458A>T (p.Ile820Phe)
c.2682A>T (n.2682A>T)
c.2257A>T (p.Ile753Phe)
c.1975A>T (p.Ile659Phe)
c.1186A>T (p.Ile396Phe)
c.3013A>T (p.Ile1005Phe)
c.2440A>T (p.Ile814Phe)
c.2365A>T (p.Ile789Phe)
c.1042A>T (p.Ile348Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894730T>CCA352174699SCN11Ac.2638A>G (p.Ile880Val)
c.2458A>G (p.Ile820Val)
c.2682A>G (n.2682A>G)
c.2257A>G (p.Ile753Val)
c.1975A>G (p.Ile659Val)
c.1186A>G (p.Ile396Val)
c.3013A>G (p.Ile1005Val)
c.2440A>G (p.Ile814Val)
c.2365A>G (p.Ile789Val)
c.1042A>G (p.Ile348Val)
3g.38894730T>GCA352174700SCN11Ac.2638A>C (p.Ile880Leu)
c.2458A>C (p.Ile820Leu)
c.2682A>C (n.2682A>C)
c.2257A>C (p.Ile753Leu)
c.1975A>C (p.Ile659Leu)
c.1186A>C (p.Ile396Leu)
c.3013A>C (p.Ile1005Leu)
c.2440A>C (p.Ile814Leu)
c.2365A>C (p.Ile789Leu)
c.1042A>C (p.Ile348Leu)
3g.38894730T=CA1358718194SCN11Ac.2638A= (p.Ile880=)
c.2458A= (p.Ile820=)
c.2682A= (n.2682A=)
c.2257A= (p.Ile753=)
c.1975A= (p.Ile659=)
c.1186A= (p.Ile396=)
c.3013A= (p.Ile1005=)
c.2440A= (p.Ile814=)
c.2365A= (p.Ile789=)
c.1042A= (p.Ile348=)
3g.38894731G>ACA433336075SCN11Ac.2637C>T (p.Asp879=)
c.2457C>T (p.Asp819=)
c.2681C>T (n.2681C>T)
c.2256C>T (p.Asp752=)
c.1974C>T (p.Asp658=)
c.1185C>T (p.Asp395=)
c.3012C>T (p.Asp1004=)
c.2439C>T (p.Asp813=)
c.2364C>T (p.Asp788=)
c.1041C>T (p.Asp347=)
3g.38894731G>CCA352174701SCN11Ac.2637C>G (p.Asp879Glu)
c.2457C>G (p.Asp819Glu)
c.2681C>G (n.2681C>G)
c.2256C>G (p.Asp752Glu)
c.1974C>G (p.Asp658Glu)
c.1185C>G (p.Asp395Glu)
c.3012C>G (p.Asp1004Glu)
c.2439C>G (p.Asp813Glu)
c.2364C>G (p.Asp788Glu)
c.1041C>G (p.Asp347Glu)
3g.38894731G>TCA352174702SCN11Ac.2637C>A (p.Asp879Glu)
c.2457C>A (p.Asp819Glu)
c.2681C>A (n.2681C>A)
c.2256C>A (p.Asp752Glu)
c.1974C>A (p.Asp658Glu)
c.1185C>A (p.Asp395Glu)
c.3012C>A (p.Asp1004Glu)
c.2439C>A (p.Asp813Glu)
c.2364C>A (p.Asp788Glu)
c.1041C>A (p.Asp347Glu)
3g.38894732T>ACA352174703SCN11Ac.2636A>T (p.Asp879Val)
c.2456A>T (p.Asp819Val)
c.2680A>T (n.2680A>T)
c.2255A>T (p.Asp752Val)
c.1973A>T (p.Asp658Val)
c.1184A>T (p.Asp395Val)
c.3011A>T (p.Asp1004Val)
c.2438A>T (p.Asp813Val)
c.2363A>T (p.Asp788Val)
c.1040A>T (p.Asp347Val)
3g.38894732T>CCA352174704SCN11Ac.2636A>G (p.Asp879Gly)
c.2456A>G (p.Asp819Gly)
c.2680A>G (n.2680A>G)
c.2255A>G (p.Asp752Gly)
c.1973A>G (p.Asp658Gly)
c.1184A>G (p.Asp395Gly)
c.3011A>G (p.Asp1004Gly)
c.2438A>G (p.Asp813Gly)
c.2363A>G (p.Asp788Gly)
c.1040A>G (p.Asp347Gly)
3g.38894732T>GCA352174705SCN11Ac.2636A>C (p.Asp879Ala)
c.2456A>C (p.Asp819Ala)
c.2680A>C (n.2680A>C)
c.2255A>C (p.Asp752Ala)
c.1973A>C (p.Asp658Ala)
c.1184A>C (p.Asp395Ala)
c.3011A>C (p.Asp1004Ala)
c.2438A>C (p.Asp813Ala)
c.2363A>C (p.Asp788Ala)
c.1040A>C (p.Asp347Ala)
3g.38894733delCA2755906858SCN11Ac.2635del (p.Asp879ThrfsTer9)
c.2455del (p.Asp819ThrfsTer9)
c.2679del (n.2679del)
c.2254del (p.Asp752ThrfsTer9)
c.1972del (p.Asp658ThrfsTer9)
c.1183del (p.Asp395ThrfsTer9)
c.3010del (p.Asp1004ThrfsTer9)
c.2437del (p.Asp813ThrfsTer9)
c.2362del (p.Asp788ThrfsTer9)
c.1039del (p.Asp347ThrfsTer9)
3g.38894733C>ACA352174706SCN11Ac.2635G>T (p.Asp879Tyr)
c.2455G>T (p.Asp819Tyr)
c.2679G>T (n.2679G>T)
c.2254G>T (p.Asp752Tyr)
c.1972G>T (p.Asp658Tyr)
c.1183G>T (p.Asp395Tyr)
c.3010G>T (p.Asp1004Tyr)
c.2437G>T (p.Asp813Tyr)
c.2362G>T (p.Asp788Tyr)
c.1039G>T (p.Asp347Tyr)
 gnomAD v4
3g.38894733C>GCA352174707SCN11Ac.2635G>C (p.Asp879His)
c.2455G>C (p.Asp819His)
c.2679G>C (n.2679G>C)
c.2254G>C (p.Asp752His)
c.1972G>C (p.Asp658His)
c.1183G>C (p.Asp395His)
c.3010G>C (p.Asp1004His)
c.2437G>C (p.Asp813His)
c.2362G>C (p.Asp788His)
c.1039G>C (p.Asp347His)
3g.38894733C>TCA352174708SCN11Ac.2635G>A (p.Asp879Asn)
c.2455G>A (p.Asp819Asn)
c.2679G>A (n.2679G>A)
c.2254G>A (p.Asp752Asn)
c.1972G>A (p.Asp658Asn)
c.1183G>A (p.Asp395Asn)
c.3010G>A (p.Asp1004Asn)
c.2437G>A (p.Asp813Asn)
c.2362G>A (p.Asp788Asn)
c.1039G>A (p.Asp347Asn)
 COSMIC
3g.38894738_38894742delCA2665127321SCN11Ac.2631_2635del (p.Ser877ArgfsTer?)
c.2451_2455del (p.Ser817ArgfsTer?)
c.2675_2679del (n.2675_2679del)
c.2250_2254del (p.Ser750ArgfsTer?)
c.1968_1972del (p.Ser656ArgfsTer?)
c.1179_1183del (p.Ser393ArgfsTer?)
c.3006_3010del (p.Ser1002ArgfsTer?)
c.2433_2437del (p.Ser811ArgfsTer?)
c.2358_2362del (p.Ser786ArgfsTer?)
c.1035_1039del (p.Ser345ArgfsTer?)
 gnomAD v4
3g.38894734T>ACA352174709SCN11Ac.2634A>T (p.Lys878Asn)
c.2454A>T (p.Lys818Asn)
c.2678A>T (n.2678A>T)
c.2253A>T (p.Lys751Asn)
c.1971A>T (p.Lys657Asn)
c.1182A>T (p.Lys394Asn)
c.3009A>T (p.Lys1003Asn)
c.2436A>T (p.Lys812Asn)
c.2361A>T (p.Lys787Asn)
c.1038A>T (p.Lys346Asn)
3g.38894734T>CCA433336079SCN11Ac.2634A>G (p.Lys878=)
c.2454A>G (p.Lys818=)
c.2678A>G (n.2678A>G)
c.2253A>G (p.Lys751=)
c.1971A>G (p.Lys657=)
c.1182A>G (p.Lys394=)
c.3009A>G (p.Lys1003=)
c.2436A>G (p.Lys812=)
c.2361A>G (p.Lys787=)
c.1038A>G (p.Lys346=)
3g.38894734T>GCA352174710SCN11Ac.2634A>C (p.Lys878Asn)
c.2454A>C (p.Lys818Asn)
c.2678A>C (n.2678A>C)
c.2253A>C (p.Lys751Asn)
c.1971A>C (p.Lys657Asn)
c.1182A>C (p.Lys394Asn)
c.3009A>C (p.Lys1003Asn)
c.2436A>C (p.Lys812Asn)
c.2361A>C (p.Lys787Asn)
c.1038A>C (p.Lys346Asn)
3g.38894735T>ACA352174711SCN11Ac.2633A>T (p.Lys878Ile)
c.2453A>T (p.Lys818Ile)
c.2677A>T (n.2677A>T)
c.2252A>T (p.Lys751Ile)
c.1970A>T (p.Lys657Ile)
c.1181A>T (p.Lys394Ile)
c.3008A>T (p.Lys1003Ile)
c.2435A>T (p.Lys812Ile)
c.2360A>T (p.Lys787Ile)
c.1037A>T (p.Lys346Ile)
3g.38894735T>CCA352174712SCN11Ac.2633A>G (p.Lys878Arg)
c.2453A>G (p.Lys818Arg)
c.2677A>G (n.2677A>G)
c.2252A>G (p.Lys751Arg)
c.1970A>G (p.Lys657Arg)
c.1181A>G (p.Lys394Arg)
c.3008A>G (p.Lys1003Arg)
c.2435A>G (p.Lys812Arg)
c.2360A>G (p.Lys787Arg)
c.1037A>G (p.Lys346Arg)
3g.38894735T>GCA352174713SCN11Ac.2633A>C (p.Lys878Thr)
c.2453A>C (p.Lys818Thr)
c.2677A>C (n.2677A>C)
c.2252A>C (p.Lys751Thr)
c.1970A>C (p.Lys657Thr)
c.1181A>C (p.Lys394Thr)
c.3008A>C (p.Lys1003Thr)
c.2435A>C (p.Lys812Thr)
c.2360A>C (p.Lys787Thr)
c.1037A>C (p.Lys346Thr)
3g.38894736T>ACA352174714SCN11Ac.2632A>T (p.Lys878Ter)
c.2452A>T (p.Lys818Ter)
c.2676A>T (n.2676A>T)
c.2251A>T (p.Lys751Ter)
c.1969A>T (p.Lys657Ter)
c.1180A>T (p.Lys394Ter)
c.3007A>T (p.Lys1003Ter)
c.2434A>T (p.Lys812Ter)
c.2359A>T (p.Lys787Ter)
c.1036A>T (p.Lys346Ter)
 dbSNP
3g.38894736T>CCA352174715SCN11Ac.2632A>G (p.Lys878Glu)
c.2452A>G (p.Lys818Glu)
c.2676A>G (n.2676A>G)
c.2251A>G (p.Lys751Glu)
c.1969A>G (p.Lys657Glu)
c.1180A>G (p.Lys394Glu)
c.3007A>G (p.Lys1003Glu)
c.2434A>G (p.Lys812Glu)
c.2359A>G (p.Lys787Glu)
c.1036A>G (p.Lys346Glu)
3g.38894736T>GCA352174716SCN11Ac.2632A>C (p.Lys878Gln)
c.2452A>C (p.Lys818Gln)
c.2676A>C (n.2676A>C)
c.2251A>C (p.Lys751Gln)
c.1969A>C (p.Lys657Gln)
c.1180A>C (p.Lys394Gln)
c.3007A>C (p.Lys1003Gln)
c.2434A>C (p.Lys812Gln)
c.2359A>C (p.Lys787Gln)
c.1036A>C (p.Lys346Gln)
3g.38894736T=CA1358718195SCN11Ac.2632A= (p.Lys878=)
c.2452A= (p.Lys818=)
c.2676A= (n.2676A=)
c.2251A= (p.Lys751=)
c.1969A= (p.Lys657=)
c.1180A= (p.Lys394=)
c.3007A= (p.Lys1003=)
c.2434A= (p.Lys812=)
c.2359A= (p.Lys787=)
c.1036A= (p.Lys346=)
3g.38894737G>ACA433336081SCN11Ac.2631C>T (p.Ser877=)
c.2451C>T (p.Ser817=)
c.2675C>T (n.2675C>T)
c.2250C>T (p.Ser750=)
c.1968C>T (p.Ser656=)
c.1179C>T (p.Ser393=)
c.3006C>T (p.Ser1002=)
c.2433C>T (p.Ser811=)
c.2358C>T (p.Ser786=)
c.1035C>T (p.Ser345=)
3g.38894737G>CCA352174717SCN11Ac.2631C>G (p.Ser877Arg)
c.2451C>G (p.Ser817Arg)
c.2675C>G (n.2675C>G)
c.2250C>G (p.Ser750Arg)
c.1968C>G (p.Ser656Arg)
c.1179C>G (p.Ser393Arg)
c.3006C>G (p.Ser1002Arg)
c.2433C>G (p.Ser811Arg)
c.2358C>G (p.Ser786Arg)
c.1035C>G (p.Ser345Arg)
 gnomAD v4
3g.38894737G>TCA352174718SCN11Ac.2631C>A (p.Ser877Arg)
c.2451C>A (p.Ser817Arg)
c.2675C>A (n.2675C>A)
c.2250C>A (p.Ser750Arg)
c.1968C>A (p.Ser656Arg)
c.1179C>A (p.Ser393Arg)
c.3006C>A (p.Ser1002Arg)
c.2433C>A (p.Ser811Arg)
c.2358C>A (p.Ser786Arg)
c.1035C>A (p.Ser345Arg)
3g.38894738C>ACA352174719SCN11Ac.2630G>T (p.Ser877Ile)
c.2450G>T (p.Ser817Ile)
c.2674G>T (n.2674G>T)
c.2249G>T (p.Ser750Ile)
c.1967G>T (p.Ser656Ile)
c.1178G>T (p.Ser393Ile)
c.3005G>T (p.Ser1002Ile)
c.2432G>T (p.Ser811Ile)
c.2357G>T (p.Ser786Ile)
c.1034G>T (p.Ser345Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38894738C=CA1358718196SCN11Ac.2630G= (p.Ser877=)
c.2450G= (p.Ser817=)
c.2674G= (n.2674G=)
c.2249G= (p.Ser750=)
c.1967G= (p.Ser656=)
c.1178G= (p.Ser393=)
c.3005G= (p.Ser1002=)
c.2432G= (p.Ser811=)
c.2357G= (p.Ser786=)
c.1034G= (p.Ser345=)
3g.38894738C>GCA352174720SCN11Ac.2630G>C (p.Ser877Thr)
c.2450G>C (p.Ser817Thr)
c.2674G>C (n.2674G>C)
c.2249G>C (p.Ser750Thr)
c.1967G>C (p.Ser656Thr)
c.1178G>C (p.Ser393Thr)
c.3005G>C (p.Ser1002Thr)
c.2432G>C (p.Ser811Thr)
c.2357G>C (p.Ser786Thr)
c.1034G>C (p.Ser345Thr)
3g.38894738C>TCA352174721SCN11Ac.2630G>A (p.Ser877Asn)
c.2450G>A (p.Ser817Asn)
c.2674G>A (n.2674G>A)
c.2249G>A (p.Ser750Asn)
c.1967G>A (p.Ser656Asn)
c.1178G>A (p.Ser393Asn)
c.3005G>A (p.Ser1002Asn)
c.2432G>A (p.Ser811Asn)
c.2357G>A (p.Ser786Asn)
c.1034G>A (p.Ser345Asn)
 gnomAD v4

Number of alleles fetched