Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7827419A>CCA338149074PER3c.2490A>C (p.Glu830Asp)
c.2466A>C (p.Glu822Asp)
c.2469A>C (p.Glu823Asp)
c.1533A>C (p.Glu511Asp)
c.2487A>C (p.Glu829Asp)
c.1965A>C (p.Glu655Asp)
c.2322A>C (p.Glu774Asp)
c.2142A>C (p.Glu714Asp)
c.2127A>C (p.Glu709Asp)
c.2121A>C (p.Glu707Asp)
c.1098A>C (p.Glu366Asp)
c.1944A>C (p.Glu648Asp)
1g.7827419A>GCA416028147PER3c.2490A>G (p.Glu830=)
c.2466A>G (p.Glu822=)
c.2469A>G (p.Glu823=)
c.1533A>G (p.Glu511=)
c.2487A>G (p.Glu829=)
c.1965A>G (p.Glu655=)
c.2322A>G (p.Glu774=)
c.2142A>G (p.Glu714=)
c.2127A>G (p.Glu709=)
c.2121A>G (p.Glu707=)
c.1098A>G (p.Glu366=)
c.1944A>G (p.Glu648=)
1g.7827419A>TCA338149075PER3c.2490A>T (p.Glu830Asp)
c.2466A>T (p.Glu822Asp)
c.2469A>T (p.Glu823Asp)
c.1533A>T (p.Glu511Asp)
c.2487A>T (p.Glu829Asp)
c.1965A>T (p.Glu655Asp)
c.2322A>T (p.Glu774Asp)
c.2142A>T (p.Glu714Asp)
c.2127A>T (p.Glu709Asp)
c.2121A>T (p.Glu707Asp)
c.1098A>T (p.Glu366Asp)
c.1944A>T (p.Glu648Asp)
1g.7827420G>ACA568421PER3c.2491G>A (p.Gly831Ser)
c.2467G>A (p.Gly823Ser)
c.2470G>A (p.Gly824Ser)
c.1534G>A (p.Gly512Ser)
c.2488G>A (p.Gly830Ser)
c.1966G>A (p.Gly656Ser)
c.2323G>A (p.Gly775Ser)
c.2143G>A (p.Gly715Ser)
c.2128G>A (p.Gly710Ser)
c.2122G>A (p.Gly708Ser)
c.1099G>A (p.Gly367Ser)
c.1945G>A (p.Gly649Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7827420G>CCA338149076PER3c.2491G>C (p.Gly831Arg)
c.2467G>C (p.Gly823Arg)
c.2470G>C (p.Gly824Arg)
c.1534G>C (p.Gly512Arg)
c.2488G>C (p.Gly830Arg)
c.1966G>C (p.Gly656Arg)
c.2323G>C (p.Gly775Arg)
c.2143G>C (p.Gly715Arg)
c.2128G>C (p.Gly710Arg)
c.2122G>C (p.Gly708Arg)
c.1099G>C (p.Gly367Arg)
c.1945G>C (p.Gly649Arg)
1g.7827420G=CA1152110890PER3c.2491G= (p.Gly831=)
c.2467G= (p.Gly823=)
c.2470G= (p.Gly824=)
c.1534G= (p.Gly512=)
c.2488G= (p.Gly830=)
c.1966G= (p.Gly656=)
c.2323G= (p.Gly775=)
c.2143G= (p.Gly715=)
c.2128G= (p.Gly710=)
c.2122G= (p.Gly708=)
c.1099G= (p.Gly367=)
c.1945G= (p.Gly649=)
1g.7827420G>TCA338149077PER3c.2491G>T (p.Gly831Cys)
c.2467G>T (p.Gly823Cys)
c.2470G>T (p.Gly824Cys)
c.1534G>T (p.Gly512Cys)
c.2488G>T (p.Gly830Cys)
c.1966G>T (p.Gly656Cys)
c.2323G>T (p.Gly775Cys)
c.2143G>T (p.Gly715Cys)
c.2128G>T (p.Gly710Cys)
c.2122G>T (p.Gly708Cys)
c.1099G>T (p.Gly367Cys)
c.1945G>T (p.Gly649Cys)
1g.7827421G>ACA17265613PER3c.2492G>A (p.Gly831Asp)
c.2468G>A (p.Gly823Asp)
c.2471G>A (p.Gly824Asp)
c.1535G>A (p.Gly512Asp)
c.2489G>A (p.Gly830Asp)
c.1967G>A (p.Gly656Asp)
c.2324G>A (p.Gly775Asp)
c.2144G>A (p.Gly715Asp)
c.2129G>A (p.Gly710Asp)
c.2123G>A (p.Gly708Asp)
c.1100G>A (p.Gly367Asp)
c.1946G>A (p.Gly649Asp)
dbSNP
1g.7827421G>CCA338149079PER3c.2492G>C (p.Gly831Ala)
c.2468G>C (p.Gly823Ala)
c.2471G>C (p.Gly824Ala)
c.1535G>C (p.Gly512Ala)
c.2489G>C (p.Gly830Ala)
c.1967G>C (p.Gly656Ala)
c.2324G>C (p.Gly775Ala)
c.2144G>C (p.Gly715Ala)
c.2129G>C (p.Gly710Ala)
c.2123G>C (p.Gly708Ala)
c.1100G>C (p.Gly367Ala)
c.1946G>C (p.Gly649Ala)
1g.7827421G=CA1152110896PER3c.2492G= (p.Gly831=)
c.2468G= (p.Gly823=)
c.2471G= (p.Gly824=)
c.1535G= (p.Gly512=)
c.2489G= (p.Gly830=)
c.1967G= (p.Gly656=)
c.2324G= (p.Gly775=)
c.2144G= (p.Gly715=)
c.2129G= (p.Gly710=)
c.2123G= (p.Gly708=)
c.1100G= (p.Gly367=)
c.1946G= (p.Gly649=)
1g.7827421G>TCA338149078PER3c.2492G>T (p.Gly831Val)
c.2468G>T (p.Gly823Val)
c.2471G>T (p.Gly824Val)
c.1535G>T (p.Gly512Val)
c.2489G>T (p.Gly830Val)
c.1967G>T (p.Gly656Val)
c.2324G>T (p.Gly775Val)
c.2144G>T (p.Gly715Val)
c.2129G>T (p.Gly710Val)
c.2123G>T (p.Gly708Val)
c.1100G>T (p.Gly367Val)
c.1946G>T (p.Gly649Val)
1g.7827422C>ACA416028148PER3c.2493C>A (p.Gly831=)
c.2469C>A (p.Gly823=)
c.2472C>A (p.Gly824=)
c.1536C>A (p.Gly512=)
c.2490C>A (p.Gly830=)
c.1968C>A (p.Gly656=)
c.2325C>A (p.Gly775=)
c.2145C>A (p.Gly715=)
c.2130C>A (p.Gly710=)
c.2124C>A (p.Gly708=)
c.1101C>A (p.Gly367=)
c.1947C>A (p.Gly649=)
1g.7827422C=CA1152110900PER3c.2493C= (p.Gly831=)
c.2469C= (p.Gly823=)
c.2472C= (p.Gly824=)
c.1536C= (p.Gly512=)
c.2490C= (p.Gly830=)
c.1968C= (p.Gly656=)
c.2325C= (p.Gly775=)
c.2145C= (p.Gly715=)
c.2130C= (p.Gly710=)
c.2124C= (p.Gly708=)
c.1101C= (p.Gly367=)
c.1947C= (p.Gly649=)
1g.7827422C>GCA416028149PER3c.2493C>G (p.Gly831=)
c.2469C>G (p.Gly823=)
c.2472C>G (p.Gly824=)
c.1536C>G (p.Gly512=)
c.2490C>G (p.Gly830=)
c.1968C>G (p.Gly656=)
c.2325C>G (p.Gly775=)
c.2145C>G (p.Gly715=)
c.2130C>G (p.Gly710=)
c.2124C>G (p.Gly708=)
c.1101C>G (p.Gly367=)
c.1947C>G (p.Gly649=)
1g.7827422C>TCA416028150PER3c.2493C>T (p.Gly831=)
c.2469C>T (p.Gly823=)
c.2472C>T (p.Gly824=)
c.1536C>T (p.Gly512=)
c.2490C>T (p.Gly830=)
c.1968C>T (p.Gly656=)
c.2325C>T (p.Gly775=)
c.2145C>T (p.Gly715=)
c.2130C>T (p.Gly710=)
c.2124C>T (p.Gly708=)
c.1101C>T (p.Gly367=)
c.1947C>T (p.Gly649=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7827423C>ACA338149080PER3c.2494C>A (p.Leu832Met)
c.2470C>A (p.Leu824Met)
c.2473C>A (p.Leu825Met)
c.1537C>A (p.Leu513Met)
c.2491C>A (p.Leu831Met)
c.1969C>A (p.Leu657Met)
c.2326C>A (p.Leu776Met)
c.2146C>A (p.Leu716Met)
c.2131C>A (p.Leu711Met)
c.2125C>A (p.Leu709Met)
c.1102C>A (p.Leu368Met)
c.1948C>A (p.Leu650Met)
1g.7827423C=CA1152110904PER3c.2494C= (p.Leu832=)
c.2470C= (p.Leu824=)
c.2473C= (p.Leu825=)
c.1537C= (p.Leu513=)
c.2491C= (p.Leu831=)
c.1969C= (p.Leu657=)
c.2326C= (p.Leu776=)
c.2146C= (p.Leu716=)
c.2131C= (p.Leu711=)
c.2125C= (p.Leu709=)
c.1102C= (p.Leu368=)
c.1948C= (p.Leu650=)
1g.7827423C>GCA338149081PER3c.2494C>G (p.Leu832Val)
c.2470C>G (p.Leu824Val)
c.2473C>G (p.Leu825Val)
c.1537C>G (p.Leu513Val)
c.2491C>G (p.Leu831Val)
c.1969C>G (p.Leu657Val)
c.2326C>G (p.Leu776Val)
c.2146C>G (p.Leu716Val)
c.2131C>G (p.Leu711Val)
c.2125C>G (p.Leu709Val)
c.1102C>G (p.Leu368Val)
c.1948C>G (p.Leu650Val)
1g.7827423C>TCA17265616PER3c.2494C>T (p.Leu832=)
c.2470C>T (p.Leu824=)
c.2473C>T (p.Leu825=)
c.1537C>T (p.Leu513=)
c.2491C>T (p.Leu831=)
c.1969C>T (p.Leu657=)
c.2326C>T (p.Leu776=)
c.2146C>T (p.Leu716=)
c.2131C>T (p.Leu711=)
c.2125C>T (p.Leu709=)
c.1102C>T (p.Leu368=)
c.1948C>T (p.Leu650=)
dbSNP
1g.7827424T>ACA338149082PER3c.2495T>A (p.Leu832Gln)
c.2471T>A (p.Leu824Gln)
c.2474T>A (p.Leu825Gln)
c.1538T>A (p.Leu513Gln)
c.2492T>A (p.Leu831Gln)
c.1970T>A (p.Leu657Gln)
c.2327T>A (p.Leu776Gln)
c.2147T>A (p.Leu716Gln)
c.2132T>A (p.Leu711Gln)
c.2126T>A (p.Leu709Gln)
c.1103T>A (p.Leu368Gln)
c.1949T>A (p.Leu650Gln)
1g.7827424T>CCA338149083PER3c.2495T>C (p.Leu832Pro)
c.2471T>C (p.Leu824Pro)
c.2474T>C (p.Leu825Pro)
c.1538T>C (p.Leu513Pro)
c.2492T>C (p.Leu831Pro)
c.1970T>C (p.Leu657Pro)
c.2327T>C (p.Leu776Pro)
c.2147T>C (p.Leu716Pro)
c.2132T>C (p.Leu711Pro)
c.2126T>C (p.Leu709Pro)
c.1103T>C (p.Leu368Pro)
c.1949T>C (p.Leu650Pro)
gnomAD v4
1g.7827424T>GCA338149084PER3c.2495T>G (p.Leu832Arg)
c.2471T>G (p.Leu824Arg)
c.2474T>G (p.Leu825Arg)
c.1538T>G (p.Leu513Arg)
c.2492T>G (p.Leu831Arg)
c.1970T>G (p.Leu657Arg)
c.2327T>G (p.Leu776Arg)
c.2147T>G (p.Leu716Arg)
c.2132T>G (p.Leu711Arg)
c.2126T>G (p.Leu709Arg)
c.1103T>G (p.Leu368Arg)
c.1949T>G (p.Leu650Arg)
gnomAD v4
1g.7827425G>ACA416028151PER3c.2496G>A (p.Leu832=)
c.2472G>A (p.Leu824=)
c.2475G>A (p.Leu825=)
c.1539G>A (p.Leu513=)
c.2493G>A (p.Leu831=)
c.1971G>A (p.Leu657=)
c.2328G>A (p.Leu776=)
c.2148G>A (p.Leu716=)
c.2133G>A (p.Leu711=)
c.2127G>A (p.Leu709=)
c.1104G>A (p.Leu368=)
c.1950G>A (p.Leu650=)
gnomAD v4
1g.7827425G>CCA416028153PER3c.2496G>C (p.Leu832=)
c.2472G>C (p.Leu824=)
c.2475G>C (p.Leu825=)
c.1539G>C (p.Leu513=)
c.2493G>C (p.Leu831=)
c.1971G>C (p.Leu657=)
c.2328G>C (p.Leu776=)
c.2148G>C (p.Leu716=)
c.2133G>C (p.Leu711=)
c.2127G>C (p.Leu709=)
c.1104G>C (p.Leu368=)
c.1950G>C (p.Leu650=)
1g.7827425G>TCA416028152PER3c.2496G>T (p.Leu832=)
c.2472G>T (p.Leu824=)
c.2475G>T (p.Leu825=)
c.1539G>T (p.Leu513=)
c.2493G>T (p.Leu831=)
c.1971G>T (p.Leu657=)
c.2328G>T (p.Leu776=)
c.2148G>T (p.Leu716=)
c.2133G>T (p.Leu711=)
c.2127G>T (p.Leu709=)
c.1104G>T (p.Leu368=)
c.1950G>T (p.Leu650=)
gnomAD v4
1g.7827426C>ACA338149086PER3c.2497C>A (p.His833Asn)
c.2473C>A (p.His825Asn)
c.2476C>A (p.His826Asn)
c.1540C>A (p.His514Asn)
c.2494C>A (p.His832Asn)
c.1972C>A (p.His658Asn)
c.2329C>A (p.His777Asn)
c.2149C>A (p.His717Asn)
c.2134C>A (p.His712Asn)
c.2128C>A (p.His710Asn)
c.1105C>A (p.His369Asn)
c.1951C>A (p.His651Asn)
1g.7827426C=CA1152110907PER3c.2497C= (p.His833=)
c.2473C= (p.His825=)
c.2476C= (p.His826=)
c.1540C= (p.His514=)
c.2494C= (p.His832=)
c.1972C= (p.His658=)
c.2329C= (p.His777=)
c.2149C= (p.His717=)
c.2134C= (p.His712=)
c.2128C= (p.His710=)
c.1105C= (p.His369=)
c.1951C= (p.His651=)
1g.7827426C>GCA17265619PER3c.2497C>G (p.His833Asp)
c.2473C>G (p.His825Asp)
c.2476C>G (p.His826Asp)
c.1540C>G (p.His514Asp)
c.2494C>G (p.His832Asp)
c.1972C>G (p.His658Asp)
c.2329C>G (p.His777Asp)
c.2149C>G (p.His717Asp)
c.2134C>G (p.His712Asp)
c.2128C>G (p.His710Asp)
c.1105C>G (p.His369Asp)
c.1951C>G (p.His651Asp)
dbSNP gnomAD v3 gnomAD v4
1g.7827426C>TCA338149085PER3c.2497C>T (p.His833Tyr)
c.2473C>T (p.His825Tyr)
c.2476C>T (p.His826Tyr)
c.1540C>T (p.His514Tyr)
c.2494C>T (p.His832Tyr)
c.1972C>T (p.His658Tyr)
c.2329C>T (p.His777Tyr)
c.2149C>T (p.His717Tyr)
c.2134C>T (p.His712Tyr)
c.2128C>T (p.His710Tyr)
c.1105C>T (p.His369Tyr)
c.1951C>T (p.His651Tyr)
dbSNP gnomAD v4
1g.7827427A=CA1152110919PER3c.2498A= (p.His833=)
c.2474A= (p.His825=)
c.2477A= (p.His826=)
c.1541A= (p.His514=)
c.2495A= (p.His832=)
c.1973A= (p.His658=)
c.2330A= (p.His777=)
c.2150A= (p.His717=)
c.2135A= (p.His712=)
c.2129A= (p.His710=)
c.1106A= (p.His369=)
c.1952A= (p.His651=)
1g.7827427A>CCA338149087PER3c.2498A>C (p.His833Pro)
c.2474A>C (p.His825Pro)
c.2477A>C (p.His826Pro)
c.1541A>C (p.His514Pro)
c.2495A>C (p.His832Pro)
c.1973A>C (p.His658Pro)
c.2330A>C (p.His777Pro)
c.2150A>C (p.His717Pro)
c.2135A>C (p.His712Pro)
c.2129A>C (p.His710Pro)
c.1106A>C (p.His369Pro)
c.1952A>C (p.His651Pro)
1g.7827427A>GCA338149088PER3c.2498A>G (p.His833Arg)
c.2474A>G (p.His825Arg)
c.2477A>G (p.His826Arg)
c.1541A>G (p.His514Arg)
c.2495A>G (p.His832Arg)
c.1973A>G (p.His658Arg)
c.2330A>G (p.His777Arg)
c.2150A>G (p.His717Arg)
c.2135A>G (p.His712Arg)
c.2129A>G (p.His710Arg)
c.1106A>G (p.His369Arg)
c.1952A>G (p.His651Arg)
dbSNP gnomAD v2 gnomAD v4
1g.7827427A>TCA338149089PER3c.2498A>T (p.His833Leu)
c.2474A>T (p.His825Leu)
c.2477A>T (p.His826Leu)
c.1541A>T (p.His514Leu)
c.2495A>T (p.His832Leu)
c.1973A>T (p.His658Leu)
c.2330A>T (p.His777Leu)
c.2150A>T (p.His717Leu)
c.2135A>T (p.His712Leu)
c.2129A>T (p.His710Leu)
c.1106A>T (p.His369Leu)
c.1952A>T (p.His651Leu)
1g.7827427dupCA739059492PER3c.2498dup (p.His833GlnfsTer30)
c.2474dup (p.His825GlnfsTer30)
c.2477dup (p.His826GlnfsTer30)
c.1541dup (p.His514GlnfsTer30)
c.2495dup (p.His832GlnfsTer30)
c.1973dup (p.His658GlnfsTer30)
c.2330dup (p.His777GlnfsTer30)
c.2150dup (p.His717GlnfsTer30)
c.2135dup (p.His712GlnfsTer30)
c.2129dup (p.His710GlnfsTer30)
c.1106dup (p.His369GlnfsTer30)
c.1952dup (p.His651GlnfsTer30)
dbSNP gnomAD v3 gnomAD v4
1g.7827428T>ACA338149090PER3c.2499T>A (p.His833Gln)
c.2475T>A (p.His825Gln)
c.2478T>A (p.His826Gln)
c.1542T>A (p.His514Gln)
c.2496T>A (p.His832Gln)
c.1974T>A (p.His658Gln)
c.2331T>A (p.His777Gln)
c.2151T>A (p.His717Gln)
c.2136T>A (p.His712Gln)
c.2130T>A (p.His710Gln)
c.1107T>A (p.His369Gln)
c.1953T>A (p.His651Gln)
dbSNP gnomAD v4
1g.7827428T>CCA568422PER3c.2499T>C (p.His833=)
c.2475T>C (p.His825=)
c.2478T>C (p.His826=)
c.1542T>C (p.His514=)
c.2496T>C (p.His832=)
c.1974T>C (p.His658=)
c.2331T>C (p.His777=)
c.2151T>C (p.His717=)
c.2136T>C (p.His712=)
c.2130T>C (p.His710=)
c.1107T>C (p.His369=)
c.1953T>C (p.His651=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7827428T>GCA338149091PER3c.2499T>G (p.His833Gln)
c.2475T>G (p.His825Gln)
c.2478T>G (p.His826Gln)
c.1542T>G (p.His514Gln)
c.2496T>G (p.His832Gln)
c.1974T>G (p.His658Gln)
c.2331T>G (p.His777Gln)
c.2151T>G (p.His717Gln)
c.2136T>G (p.His712Gln)
c.2130T>G (p.His710Gln)
c.1107T>G (p.His369Gln)
c.1953T>G (p.His651Gln)
1g.7827428T=CA1152110925PER3c.2499T= (p.His833=)
c.2475T= (p.His825=)
c.2478T= (p.His826=)
c.1542T= (p.His514=)
c.2496T= (p.His832=)
c.1974T= (p.His658=)
c.2331T= (p.His777=)
c.2151T= (p.His717=)
c.2136T= (p.His712=)
c.2130T= (p.His710=)
c.1107T= (p.His369=)
c.1953T= (p.His651=)
1g.7827429G>ACA338149093PER3c.2500G>A (p.Gly834Arg)
c.2476G>A (p.Gly826Arg)
c.2479G>A (p.Gly827Arg)
c.1543G>A (p.Gly515Arg)
c.2497G>A (p.Gly833Arg)
c.1975G>A (p.Gly659Arg)
c.2332G>A (p.Gly778Arg)
c.2152G>A (p.Gly718Arg)
c.2137G>A (p.Gly713Arg)
c.2131G>A (p.Gly711Arg)
c.1108G>A (p.Gly370Arg)
c.1954G>A (p.Gly652Arg)
1g.7827429G>CCA338149094PER3c.2500G>C (p.Gly834Arg)
c.2476G>C (p.Gly826Arg)
c.2479G>C (p.Gly827Arg)
c.1543G>C (p.Gly515Arg)
c.2497G>C (p.Gly833Arg)
c.1975G>C (p.Gly659Arg)
c.2332G>C (p.Gly778Arg)
c.2152G>C (p.Gly718Arg)
c.2137G>C (p.Gly713Arg)
c.2131G>C (p.Gly711Arg)
c.1108G>C (p.Gly370Arg)
c.1954G>C (p.Gly652Arg)
1g.7827429G>TCA338149092PER3c.2500G>T (p.Gly834Trp)
c.2476G>T (p.Gly826Trp)
c.2479G>T (p.Gly827Trp)
c.1543G>T (p.Gly515Trp)
c.2497G>T (p.Gly833Trp)
c.1975G>T (p.Gly659Trp)
c.2332G>T (p.Gly778Trp)
c.2152G>T (p.Gly718Trp)
c.2137G>T (p.Gly713Trp)
c.2131G>T (p.Gly711Trp)
c.1108G>T (p.Gly370Trp)
c.1954G>T (p.Gly652Trp)
1g.7827431dupCA1152110931PER3c.2502dup (p.Leu835AlafsTer28)
c.2478dup (p.Leu827AlafsTer28)
c.2481dup (p.Leu828AlafsTer28)
c.1545dup (p.Leu516AlafsTer28)
c.2499dup (p.Leu834AlafsTer28)
c.1977dup (p.Leu660AlafsTer28)
c.2334dup (p.Leu779AlafsTer28)
c.2154dup (p.Leu719AlafsTer28)
c.2139dup (p.Leu714AlafsTer28)
c.2133dup (p.Leu712AlafsTer28)
c.1110dup (p.Leu371AlafsTer28)
c.1956dup (p.Leu653AlafsTer28)
dbSNP
1g.7827430G>ACA338149096PER3c.2501G>A (p.Gly834Glu)
c.2477G>A (p.Gly826Glu)
c.2480G>A (p.Gly827Glu)
c.1544G>A (p.Gly515Glu)
c.2498G>A (p.Gly833Glu)
c.1976G>A (p.Gly659Glu)
c.2333G>A (p.Gly778Glu)
c.2153G>A (p.Gly718Glu)
c.2138G>A (p.Gly713Glu)
c.2132G>A (p.Gly711Glu)
c.1109G>A (p.Gly370Glu)
c.1955G>A (p.Gly652Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.7827430G>CCA338149095PER3c.2501G>C (p.Gly834Ala)
c.2477G>C (p.Gly826Ala)
c.2480G>C (p.Gly827Ala)
c.1544G>C (p.Gly515Ala)
c.2498G>C (p.Gly833Ala)
c.1976G>C (p.Gly659Ala)
c.2333G>C (p.Gly778Ala)
c.2153G>C (p.Gly718Ala)
c.2138G>C (p.Gly713Ala)
c.2132G>C (p.Gly711Ala)
c.1109G>C (p.Gly370Ala)
c.1955G>C (p.Gly652Ala)
1g.7827430G=CA1152110936PER3c.2501G= (p.Gly834=)
c.2477G= (p.Gly826=)
c.2480G= (p.Gly827=)
c.1544G= (p.Gly515=)
c.2498G= (p.Gly833=)
c.1976G= (p.Gly659=)
c.2333G= (p.Gly778=)
c.2153G= (p.Gly718=)
c.2138G= (p.Gly713=)
c.2132G= (p.Gly711=)
c.1109G= (p.Gly370=)
c.1955G= (p.Gly652=)
1g.7827430G>TCA338149097PER3c.2501G>T (p.Gly834Val)
c.2477G>T (p.Gly826Val)
c.2480G>T (p.Gly827Val)
c.1544G>T (p.Gly515Val)
c.2498G>T (p.Gly833Val)
c.1976G>T (p.Gly659Val)
c.2333G>T (p.Gly778Val)
c.2153G>T (p.Gly718Val)
c.2138G>T (p.Gly713Val)
c.2132G>T (p.Gly711Val)
c.1109G>T (p.Gly370Val)
c.1955G>T (p.Gly652Val)
1g.7827431G>ACA416028154PER3c.2502G>A (p.Gly834=)
c.2478G>A (p.Gly826=)
c.2481G>A (p.Gly827=)
c.1545G>A (p.Gly515=)
c.2499G>A (p.Gly833=)
c.1977G>A (p.Gly659=)
c.2334G>A (p.Gly778=)
c.2154G>A (p.Gly718=)
c.2139G>A (p.Gly713=)
c.2133G>A (p.Gly711=)
c.1110G>A (p.Gly370=)
c.1956G>A (p.Gly652=)
1g.7827431G>CCA416028155PER3c.2502G>C (p.Gly834=)
c.2478G>C (p.Gly826=)
c.2481G>C (p.Gly827=)
c.1545G>C (p.Gly515=)
c.2499G>C (p.Gly833=)
c.1977G>C (p.Gly659=)
c.2334G>C (p.Gly778=)
c.2154G>C (p.Gly718=)
c.2139G>C (p.Gly713=)
c.2133G>C (p.Gly711=)
c.1110G>C (p.Gly370=)
c.1956G>C (p.Gly652=)
1g.7827431G>TCA416028156PER3c.2502G>T (p.Gly834=)
c.2478G>T (p.Gly826=)
c.2481G>T (p.Gly827=)
c.1545G>T (p.Gly515=)
c.2499G>T (p.Gly833=)
c.1977G>T (p.Gly659=)
c.2334G>T (p.Gly778=)
c.2154G>T (p.Gly718=)
c.2139G>T (p.Gly713=)
c.2133G>T (p.Gly711=)
c.1110G>T (p.Gly370=)
c.1956G>T (p.Gly652=)
1g.7827432C>ACA338149098PER3c.2503C>A (p.Leu835Met)
c.2479C>A (p.Leu827Met)
c.2482C>A (p.Leu828Met)
c.1546C>A (p.Leu516Met)
c.2500C>A (p.Leu834Met)
c.1978C>A (p.Leu660Met)
c.2335C>A (p.Leu779Met)
c.2155C>A (p.Leu719Met)
c.2140C>A (p.Leu714Met)
c.2134C>A (p.Leu712Met)
c.1111C>A (p.Leu371Met)
c.1957C>A (p.Leu653Met)

Number of alleles fetched