Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21573518_21573686delCA2580061452ALPLc.863-147_884del
c.73-2215_73-2047del
c.632-147_653del
c.698-147_719del
c.707-147_728del
 ClinVar
1g.21573587G>ACA19067826ALPLc.863-78G>A (n.863-78G>A)
c.73-2146G>A
c.632-78G>A (n.632-78G>A)
c.698-78G>A (n.698-78G>A)
c.707-78G>A (n.707-78G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573587G=CA1158018277ALPLc.863-78G= (n.863-78G=)
c.73-2146G=
c.632-78G= (n.632-78G=)
c.698-78G= (n.698-78G=)
c.707-78G= (n.707-78G=)
1g.21573587G>TCA2643930926ALPLc.863-78G>T (n.863-78G>T)
c.73-2146G>T
c.632-78G>T (n.632-78G>T)
c.698-78G>T (n.698-78G>T)
c.707-78G>T (n.707-78G>T)
 gnomAD v4
1g.21573588A=CA1158018279ALPLc.863-77A= (n.863-77A=)
c.73-2145A=
c.632-77A= (n.632-77A=)
c.698-77A= (n.698-77A=)
c.707-77A= (n.707-77A=)
1g.21573588A>GCA2643930927ALPLc.863-77A>G (n.863-77A>G)
c.73-2145A>G
c.632-77A>G (n.632-77A>G)
c.698-77A>G (n.698-77A>G)
c.707-77A>G (n.707-77A>G)
 gnomAD v4
1g.21573588A>TCA1158018278ALPLc.863-77A>T (n.863-77A>T)
c.73-2145A>T
c.632-77A>T (n.632-77A>T)
c.698-77A>T (n.698-77A>T)
c.707-77A>T (n.707-77A>T)
 dbSNP gnomAD v4
1g.21573589C>ACA2574252862ALPLc.863-76C>A (n.863-76C>A)
c.73-2144C>A
c.632-76C>A (n.632-76C>A)
c.698-76C>A (n.698-76C>A)
c.707-76C>A (n.707-76C>A)
 gnomAD v4
1g.21573589C>TCA2643930928ALPLc.863-76C>T (n.863-76C>T)
c.73-2144C>T
c.632-76C>T (n.632-76C>T)
c.698-76C>T (n.698-76C>T)
c.707-76C>T (n.707-76C>T)
 gnomAD v4
1g.21573590A=CA1158018280ALPLc.863-75A= (n.863-75A=)
c.73-2143A=
c.632-75A= (n.632-75A=)
c.698-75A= (n.698-75A=)
c.707-75A= (n.707-75A=)
1g.21573590A>CCA1158018281ALPLc.863-75A>C (n.863-75A>C)
c.73-2143A>C
c.632-75A>C (n.632-75A>C)
c.698-75A>C (n.698-75A>C)
c.707-75A>C (n.707-75A>C)
 dbSNP
1g.21573591C>ACA19067845ALPLc.863-74C>A (n.863-74C>A)
c.73-2142C>A
c.632-74C>A (n.632-74C>A)
c.698-74C>A (n.698-74C>A)
c.707-74C>A (n.707-74C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573591C=CA1142586436ALPLc.863-74C= (n.863-74C=)
c.73-2142C=
c.632-74C= (n.632-74C=)
c.698-74C= (n.698-74C=)
c.707-74C= (n.707-74C=)
1g.21573591C>GCA19067836ALPLc.863-74C>G (n.863-74C>G)
c.73-2142C>G
c.632-74C>G (n.632-74C>G)
c.698-74C>G (n.698-74C>G)
c.707-74C>G (n.707-74C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573591C>TCA19067830ALPLc.863-74C>T (n.863-74C>T)
c.73-2142C>T
c.632-74C>T (n.632-74C>T)
c.698-74C>T (n.698-74C>T)
c.707-74C>T (n.707-74C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573594delCA2643930929ALPLc.863-71del (n.863-71del)
c.73-2139del
c.632-71del (n.632-71del)
c.698-71del (n.698-71del)
c.707-71del (n.707-71del)
 gnomAD v4
1g.21573592C>ACA2643930930ALPLc.863-73C>A (n.863-73C>A)
c.73-2141C>A
c.632-73C>A (n.632-73C>A)
c.698-73C>A (n.698-73C>A)
c.707-73C>A (n.707-73C>A)
 gnomAD v4
1g.21573593C>ACA2643930931ALPLc.863-72C>A (n.863-72C>A)
c.73-2140C>A
c.632-72C>A (n.632-72C>A)
c.698-72C>A (n.698-72C>A)
c.707-72C>A (n.707-72C>A)
 gnomAD v4
1g.21573593C>GCA2574252879ALPLc.863-72C>G (n.863-72C>G)
c.73-2140C>G
c.632-72C>G (n.632-72C>G)
c.698-72C>G (n.698-72C>G)
c.707-72C>G (n.707-72C>G)
 gnomAD v4
1g.21573594C>ACA2643930932ALPLc.863-71C>A (n.863-71C>A)
c.73-2139C>A
c.632-71C>A (n.632-71C>A)
c.698-71C>A (n.698-71C>A)
c.707-71C>A (n.707-71C>A)
 gnomAD v4
1g.21573594C=CA1158018282ALPLc.863-71C= (n.863-71C=)
c.73-2139C=
c.632-71C= (n.632-71C=)
c.698-71C= (n.698-71C=)
c.707-71C= (n.707-71C=)
1g.21573594C>GCA19067853ALPLc.863-71C>G (n.863-71C>G)
c.73-2139C>G
c.632-71C>G (n.632-71C>G)
c.698-71C>G (n.698-71C>G)
c.707-71C>G (n.707-71C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573596G>ACA2643930933ALPLc.863-69G>A (n.863-69G>A)
c.73-2137G>A
c.632-69G>A (n.632-69G>A)
c.698-69G>A (n.698-69G>A)
c.707-69G>A (n.707-69G>A)
 gnomAD v4
1g.21573596G>TCA2643930934ALPLc.863-69G>T (n.863-69G>T)
c.73-2137G>T
c.632-69G>T (n.632-69G>T)
c.698-69G>T (n.698-69G>T)
c.707-69G>T (n.707-69G>T)
 gnomAD v4
1g.21573597C>ACA2643930935ALPLc.863-68C>A (n.863-68C>A)
c.73-2136C>A
c.632-68C>A (n.632-68C>A)
c.698-68C>A (n.698-68C>A)
c.707-68C>A (n.707-68C>A)
 gnomAD v4
1g.21573597C>TCA2643930936ALPLc.863-68C>T (n.863-68C>T)
c.73-2136C>T
c.632-68C>T (n.632-68C>T)
c.698-68C>T (n.698-68C>T)
c.707-68C>T (n.707-68C>T)
 gnomAD v4
1g.21573598T>CCA2643930937ALPLc.863-67T>C (n.863-67T>C)
c.73-2135T>C
c.632-67T>C (n.632-67T>C)
c.698-67T>C (n.698-67T>C)
c.707-67T>C (n.707-67T>C)
 gnomAD v4
1g.21573599T>ACA999409633ALPLc.863-66T>A (n.863-66T>A)
c.73-2134T>A
c.632-66T>A (n.632-66T>A)
c.698-66T>A (n.698-66T>A)
c.707-66T>A (n.707-66T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.21573599T=CA1158018283ALPLc.863-66T= (n.863-66T=)
c.73-2134T=
c.632-66T= (n.632-66T=)
c.698-66T= (n.698-66T=)
c.707-66T= (n.707-66T=)
1g.21573600C=CA1158018284ALPLc.863-65C= (n.863-65C=)
c.73-2133C=
c.632-65C= (n.632-65C=)
c.698-65C= (n.698-65C=)
c.707-65C= (n.707-65C=)
1g.21573600C>TCA1158018285ALPLc.863-65C>T (n.863-65C>T)
c.73-2133C>T
c.632-65C>T (n.632-65C>T)
c.698-65C>T (n.698-65C>T)
c.707-65C>T (n.707-65C>T)
 dbSNP
1g.21573601C=CA1158018286ALPLc.863-64C= (n.863-64C=)
c.73-2132C=
c.632-64C= (n.632-64C=)
c.698-64C= (n.698-64C=)
c.707-64C= (n.707-64C=)
1g.21573601C>TCA731322467ALPLc.863-64C>T (n.863-64C>T)
c.73-2132C>T
c.632-64C>T (n.632-64C>T)
c.698-64C>T (n.698-64C>T)
c.707-64C>T (n.707-64C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21573602T>CCA2574252882ALPLc.863-63T>C (n.863-63T>C)
c.73-2131T>C
c.632-63T>C (n.632-63T>C)
c.698-63T>C (n.698-63T>C)
c.707-63T>C (n.707-63T>C)
 gnomAD v4
1g.21573603T>GCA2643930938ALPLc.863-62T>G (n.863-62T>G)
c.73-2130T>G
c.632-62T>G (n.632-62T>G)
c.698-62T>G (n.698-62T>G)
c.707-62T>G (n.707-62T>G)
 gnomAD v4
1g.21573604G>ACA19067861ALPLc.863-61G>A (n.863-61G>A)
c.73-2129G>A
c.632-61G>A (n.632-61G>A)
c.698-61G>A (n.698-61G>A)
c.707-61G>A (n.707-61G>A)
 dbSNP
1g.21573604G=CA1158018287ALPLc.863-61G= (n.863-61G=)
c.73-2129G=
c.632-61G= (n.632-61G=)
c.698-61G= (n.698-61G=)
c.707-61G= (n.707-61G=)
1g.21573604G>TCA2643930939ALPLc.863-61G>T (n.863-61G>T)
c.73-2129G>T
c.632-61G>T (n.632-61G>T)
c.698-61G>T (n.698-61G>T)
c.707-61G>T (n.707-61G>T)
 gnomAD v4
1g.21573605G>ACA2643930940ALPLc.863-60G>A (n.863-60G>A)
c.73-2128G>A
c.632-60G>A (n.632-60G>A)
c.698-60G>A (n.698-60G>A)
c.707-60G>A (n.707-60G>A)
 gnomAD v4
1g.21573605G>TCA2643930941ALPLc.863-60G>T (n.863-60G>T)
c.73-2128G>T
c.632-60G>T (n.632-60G>T)
c.698-60G>T (n.698-60G>T)
c.707-60G>T (n.707-60G>T)
 gnomAD v4
1g.21573606A>GCA2643930942ALPLc.863-59A>G (n.863-59A>G)
c.73-2127A>G
c.632-59A>G (n.632-59A>G)
c.698-59A>G (n.698-59A>G)
c.707-59A>G (n.707-59A>G)
 gnomAD v4
1g.21573607_21573610delinsGTCCCA1158018288ALPLc.863-58_863-55delinsGTCC (n.863-58_863-55delinsGTCC)
c.73-2126_73-2123delinsGTCC
c.632-58_632-55delinsGTCC (n.632-58_632-55delinsGTCC)
c.698-58_698-55delinsGTCC (n.698-58_698-55delinsGTCC)
c.707-58_707-55delinsGTCC (n.707-58_707-55delinsGTCC)
1g.21573608T>GCA2643930943ALPLc.863-57T>G (n.863-57T>G)
c.73-2125T>G
c.632-57T>G (n.632-57T>G)
c.698-57T>G (n.698-57T>G)
c.707-57T>G (n.707-57T>G)
 gnomAD v4
1g.21573612_21573614delCA19067881ALPLc.863-53_863-51del (n.863-53_863-51del)
c.73-2121_73-2119del
c.632-53_632-51del (n.632-53_632-51del)
c.698-53_698-51del (n.698-53_698-51del)
c.707-53_707-51del (n.707-53_707-51del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573609C>ACA731322474ALPLc.863-56C>A (n.863-56C>A)
c.73-2124C>A
c.632-56C>A (n.632-56C>A)
c.698-56C>A (n.698-56C>A)
c.707-56C>A (n.707-56C>A)
 dbSNP gnomAD v4
1g.21573609C=CA1158018289ALPLc.863-56C= (n.863-56C=)
c.73-2124C=
c.632-56C= (n.632-56C=)
c.698-56C= (n.698-56C=)
c.707-56C= (n.707-56C=)
1g.21573610C>ACA2643930944ALPLc.863-55C>A (n.863-55C>A)
c.73-2123C>A
c.632-55C>A (n.632-55C>A)
c.698-55C>A (n.698-55C>A)
c.707-55C>A (n.707-55C>A)
 gnomAD v4
1g.21573610C=CA1158018290ALPLc.863-55C= (n.863-55C=)
c.73-2123C=
c.632-55C= (n.632-55C=)
c.698-55C= (n.698-55C=)
c.707-55C= (n.707-55C=)
1g.21573610C>TCA19067884ALPLc.863-55C>T (n.863-55C>T)
c.73-2123C>T
c.632-55C>T (n.632-55C>T)
c.698-55C>T (n.698-55C>T)
c.707-55C>T (n.707-55C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21573612_21573670delCA2594140248ALPLc.863-53_868del
c.73-2121_73-2063del
c.632-53_637del
c.698-53_703del
c.707-53_712del
 gnomAD v3 gnomAD v4
1g.21573611T>CCA1158018292ALPLc.863-54T>C (n.863-54T>C)
c.73-2122T>C
c.632-54T>C (n.632-54T>C)
c.698-54T>C (n.698-54T>C)
c.707-54T>C (n.707-54T>C)
 dbSNP gnomAD v4
1g.21573611T=CA1158018291ALPLc.863-54T= (n.863-54T=)
c.73-2122T=
c.632-54T= (n.632-54T=)
c.698-54T= (n.698-54T=)
c.707-54T= (n.707-54T=)
1g.21573612C>ACA19067885ALPLc.863-53C>A (n.863-53C>A)
c.73-2121C>A
c.632-53C>A (n.632-53C>A)
c.698-53C>A (n.698-53C>A)
c.707-53C>A (n.707-53C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573612C=CA1141623351ALPLc.863-53C= (n.863-53C=)
c.73-2121C=
c.632-53C= (n.632-53C=)
c.698-53C= (n.698-53C=)
c.707-53C= (n.707-53C=)
1g.21573613delCA2643930945ALPLc.863-52del (n.863-52del)
c.73-2120del
c.632-52del (n.632-52del)
c.698-52del (n.698-52del)
c.707-52del (n.707-52del)
 gnomAD v4
1g.21573617C>TCA2643930947ALPLc.863-48C>T (n.863-48C>T)
c.73-2116C>T
c.632-48C>T (n.632-48C>T)
c.698-48C>T (n.698-48C>T)
c.707-48C>T (n.707-48C>T)
 gnomAD v4
1g.21573618C=CA1148396074ALPLc.863-47C= (n.863-47C=)
c.73-2115C=
c.632-47C= (n.632-47C=)
c.698-47C= (n.698-47C=)
c.707-47C= (n.707-47C=)
1g.21573618C>TCA666651ALPLc.863-47C>T (n.863-47C>T)
c.73-2115C>T
c.632-47C>T (n.632-47C>T)
c.698-47C>T (n.698-47C>T)
c.707-47C>T (n.707-47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573619G>ACA666652ALPLc.863-46G>A (n.863-46G>A)
c.73-2114G>A
c.632-46G>A (n.632-46G>A)
c.698-46G>A (n.698-46G>A)
c.707-46G>A (n.707-46G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573619G>CCA1158018293ALPLc.863-46G>C (n.863-46G>C)
c.73-2114G>C
c.632-46G>C (n.632-46G>C)
c.698-46G>C (n.698-46G>C)
c.707-46G>C (n.707-46G>C)
 dbSNP
1g.21573619G=CA1140862467ALPLc.863-46G= (n.863-46G=)
c.73-2114G=
c.632-46G= (n.632-46G=)
c.698-46G= (n.698-46G=)
c.707-46G= (n.707-46G=)
1g.21573619G>TCA666653ALPLc.863-46G>T (n.863-46G>T)
c.73-2114G>T
c.632-46G>T (n.632-46G>T)
c.698-46G>T (n.698-46G>T)
c.707-46G>T (n.707-46G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573620G>CCA1158018295ALPLc.863-45G>C (n.863-45G>C)
c.73-2113G>C
c.632-45G>C (n.632-45G>C)
c.698-45G>C (n.698-45G>C)
c.707-45G>C (n.707-45G>C)
 dbSNP gnomAD v4
1g.21573620G=CA1158018294ALPLc.863-45G= (n.863-45G=)
c.73-2113G=
c.632-45G= (n.632-45G=)
c.698-45G= (n.698-45G=)
c.707-45G= (n.707-45G=)
1g.21573620G>TCA521577856ALPLc.863-45G>T (n.863-45G>T)
c.73-2113G>T
c.632-45G>T (n.632-45G>T)
c.698-45G>T (n.698-45G>T)
c.707-45G>T (n.707-45G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.21573621G=CA1148483394ALPLc.863-44G= (n.863-44G=)
c.73-2112G=
c.632-44G= (n.632-44G=)
c.698-44G= (n.698-44G=)
c.707-44G= (n.707-44G=)
1g.21573621G>TCA666654ALPLc.863-44G>T (n.863-44G>T)
c.73-2112G>T
c.632-44G>T (n.632-44G>T)
c.698-44G>T (n.698-44G>T)
c.707-44G>T (n.707-44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573622T>CCA521577857ALPLc.863-43T>C (n.863-43T>C)
c.73-2111T>C
c.632-43T>C (n.632-43T>C)
c.698-43T>C (n.698-43T>C)
c.707-43T>C (n.707-43T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.21573622T=CA1158018296ALPLc.863-43T= (n.863-43T=)
c.73-2111T=
c.632-43T= (n.632-43T=)
c.698-43T= (n.698-43T=)
c.707-43T= (n.707-43T=)
1g.21573623C>ACA2643930948ALPLc.863-42C>A (n.863-42C>A)
c.73-2110C>A
c.632-42C>A (n.632-42C>A)
c.698-42C>A (n.698-42C>A)
c.707-42C>A (n.707-42C>A)
 gnomAD v4
1g.21573623C=CA1158018297ALPLc.863-42C= (n.863-42C=)
c.73-2110C=
c.632-42C= (n.632-42C=)
c.698-42C= (n.698-42C=)
c.707-42C= (n.707-42C=)
1g.21573623C>TCA521577858ALPLc.863-42C>T (n.863-42C>T)
c.73-2110C>T
c.632-42C>T (n.632-42C>T)
c.698-42C>T (n.698-42C>T)
c.707-42C>T (n.707-42C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.21573624A>GCA2643930949ALPLc.863-41A>G (n.863-41A>G)
c.73-2109A>G
c.632-41A>G (n.632-41A>G)
c.698-41A>G (n.698-41A>G)
c.707-41A>G (n.707-41A>G)
 gnomAD v4
1g.21573625C=CA1158018298ALPLc.863-40C= (n.863-40C=)
c.73-2108C=
c.632-40C= (n.632-40C=)
c.698-40C= (n.698-40C=)
c.707-40C= (n.707-40C=)
1g.21573625C>TCA521577859ALPLc.863-40C>T (n.863-40C>T)
c.73-2108C>T
c.632-40C>T (n.632-40C>T)
c.698-40C>T (n.698-40C>T)
c.707-40C>T (n.707-40C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.21573626A>GCA2643930950ALPLc.863-39A>G (n.863-39A>G)
c.73-2107A>G
c.632-39A>G (n.632-39A>G)
c.698-39A>G (n.698-39A>G)
c.707-39A>G (n.707-39A>G)
 gnomAD v4
1g.21573627G>TCA2643930952ALPLc.863-38G>T (n.863-38G>T)
c.73-2106G>T
c.632-38G>T (n.632-38G>T)
c.698-38G>T (n.698-38G>T)
c.707-38G>T (n.707-38G>T)
 gnomAD v4
1g.21573628_21573630delinsCCTCA1158018299ALPLc.863-37_863-35delinsCCT (n.863-37_863-35delinsCCT)
c.73-2105_73-2103delinsCCT
c.632-37_632-35delinsCCT (n.632-37_632-35delinsCCT)
c.698-37_698-35delinsCCT (n.698-37_698-35delinsCCT)
c.707-37_707-35delinsCCT (n.707-37_707-35delinsCCT)
1g.21573629C=CA1158018300ALPLc.863-36C= (n.863-36C=)
c.73-2104C=
c.632-36C= (n.632-36C=)
c.698-36C= (n.698-36C=)
c.707-36C= (n.707-36C=)
1g.21573629C>GCA731322506ALPLc.863-36C>G (n.863-36C>G)
c.73-2104C>G
c.632-36C>G (n.632-36C>G)
c.698-36C>G (n.698-36C>G)
c.707-36C>G (n.707-36C>G)
 dbSNP
1g.21573629C>TCA666656ALPLc.863-36C>T (n.863-36C>T)
c.73-2104C>T
c.632-36C>T (n.632-36C>T)
c.698-36C>T (n.698-36C>T)
c.707-36C>T (n.707-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573632_21573633delCA666655ALPLc.863-33_863-32del (n.863-33_863-32del)
c.73-2101_73-2100del
c.632-33_632-32del (n.632-33_632-32del)
c.698-33_698-32del (n.698-33_698-32del)
c.707-33_707-32del (n.707-33_707-32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573630T>CCA2643930953ALPLc.863-35T>C (n.863-35T>C)
c.73-2103T>C
c.632-35T>C (n.632-35T>C)
c.698-35T>C (n.698-35T>C)
c.707-35T>C (n.707-35T>C)
 gnomAD v4
1g.21573631C>ACA19067931ALPLc.863-34C>A (n.863-34C>A)
c.73-2102C>A
c.632-34C>A (n.632-34C>A)
c.698-34C>A (n.698-34C>A)
c.707-34C>A (n.707-34C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573631C=CA1143441236ALPLc.863-34C= (n.863-34C=)
c.73-2102C=
c.632-34C= (n.632-34C=)
c.698-34C= (n.698-34C=)
c.707-34C= (n.707-34C=)
1g.21573631C>GCA521577860ALPLc.863-34C>G (n.863-34C>G)
c.73-2102C>G
c.632-34C>G (n.632-34C>G)
c.698-34C>G (n.698-34C>G)
c.707-34C>G (n.707-34C>G)
 dbSNP gnomAD v2
1g.21573631C>TCA1158018301ALPLc.863-34C>T (n.863-34C>T)
c.73-2102C>T
c.632-34C>T (n.632-34C>T)
c.698-34C>T (n.698-34C>T)
c.707-34C>T (n.707-34C>T)
 dbSNP
1g.21573633C>ACA2501398492ALPLc.863-32C>A (n.863-32C>A)
c.73-2100C>A
c.632-32C>A (n.632-32C>A)
c.698-32C>A (n.698-32C>A)
c.707-32C>A (n.707-32C>A)
1g.21573635G>ACA731322510ALPLc.863-30G>A (n.863-30G>A)
c.73-2098G>A
c.632-30G>A (n.632-30G>A)
c.698-30G>A (n.698-30G>A)
c.707-30G>A (n.707-30G>A)
 dbSNP
1g.21573635G>CCA1158018303ALPLc.863-30G>C (n.863-30G>C)
c.73-2098G>C
c.632-30G>C (n.632-30G>C)
c.698-30G>C (n.698-30G>C)
c.707-30G>C (n.707-30G>C)
 dbSNP
1g.21573635G=CA1158018302ALPLc.863-30G= (n.863-30G=)
c.73-2098G=
c.632-30G= (n.632-30G=)
c.698-30G= (n.698-30G=)
c.707-30G= (n.707-30G=)
1g.21573637A>CCA2643930954ALPLc.863-28A>C (n.863-28A>C)
c.73-2096A>C
c.632-28A>C (n.632-28A>C)
c.698-28A>C (n.698-28A>C)
c.707-28A>C (n.707-28A>C)
 gnomAD v4
1g.21573638T>ACA2643930955ALPLc.863-27T>A (n.863-27T>A)
c.73-2095T>A
c.632-27T>A (n.632-27T>A)
c.698-27T>A (n.698-27T>A)
c.707-27T>A (n.707-27T>A)
 gnomAD v4
1g.21573640C>GCA2643930956ALPLc.863-25C>G (n.863-25C>G)
c.73-2093C>G
c.632-25C>G (n.632-25C>G)
c.698-25C>G (n.698-25C>G)
c.707-25C>G (n.707-25C>G)
 gnomAD v4
1g.21573640C>TCA2643930957ALPLc.863-25C>T (n.863-25C>T)
c.73-2093C>T
c.632-25C>T (n.632-25C>T)
c.698-25C>T (n.698-25C>T)
c.707-25C>T (n.707-25C>T)
 gnomAD v4
1g.21573642C>TCA2742754132ALPLc.863-23C>T (n.863-23C>T)
c.73-2091C>T
c.632-23C>T (n.632-23C>T)
c.698-23C>T (n.698-23C>T)
c.707-23C>T (n.707-23C>T)
1g.21573643_21573653delCA2740090515ALPLc.863-22_863-12del (n.863-22_863-12del)
c.73-2090_73-2080del
c.632-22_632-12del (n.632-22_632-12del)
c.698-22_698-12del (n.698-22_698-12del)
c.707-22_707-12del (n.707-22_707-12del)
 ClinVar
1g.21573643A=CA1158018304ALPLc.863-22A= (n.863-22A=)
c.73-2090A=
c.632-22A= (n.632-22A=)
c.698-22A= (n.698-22A=)
c.707-22A= (n.707-22A=)
1g.21573643A>GCA521577929ALPLc.863-22A>G (n.863-22A>G)
c.73-2090A>G
c.632-22A>G (n.632-22A>G)
c.698-22A>G (n.698-22A>G)
c.707-22A>G (n.707-22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573645C>ACA2643930958ALPLc.863-20C>A (n.863-20C>A)
c.73-2088C>A
c.632-20C>A (n.632-20C>A)
c.698-20C>A (n.698-20C>A)
c.707-20C>A (n.707-20C>A)
 gnomAD v4
1g.21573645C=CA1143626712ALPLc.863-20C= (n.863-20C=)
c.73-2088C=
c.632-20C= (n.632-20C=)
c.698-20C= (n.698-20C=)
c.707-20C= (n.707-20C=)
1g.21573645C>TCA666657ALPLc.863-20C>T (n.863-20C>T)
c.73-2088C>T
c.632-20C>T (n.632-20C>T)
c.698-20C>T (n.698-20C>T)
c.707-20C>T (n.707-20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573646C=CA1144192802ALPLc.863-19C= (n.863-19C=)
c.73-2087C=
c.632-19C= (n.632-19C=)
c.698-19C= (n.698-19C=)
c.707-19C= (n.707-19C=)
1g.21573646C>TCA666658ALPLc.863-19C>T (n.863-19C>T)
c.73-2087C>T
c.632-19C>T (n.632-19C>T)
c.698-19C>T (n.698-19C>T)
c.707-19C>T (n.707-19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573648C>TCA2739272346ALPLc.863-17C>T (n.863-17C>T)
c.73-2085C>T
c.632-17C>T (n.632-17C>T)
c.698-17C>T (n.698-17C>T)
c.707-17C>T (n.707-17C>T)
 ClinVar
1g.21573650T>ACA10586723ALPLc.863-15T>A (n.863-15T>A)
c.73-2083T>A
c.632-15T>A (n.632-15T>A)
c.698-15T>A (n.698-15T>A)
c.707-15T>A (n.707-15T>A)
 ClinVar dbSNP
1g.21573650T>CCA19067939ALPLc.863-15T>C (n.863-15T>C)
c.73-2083T>C
c.632-15T>C (n.632-15T>C)
c.698-15T>C (n.698-15T>C)
c.707-15T>C (n.707-15T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573650T=CA1143963639ALPLc.863-15T= (n.863-15T=)
c.73-2083T=
c.632-15T= (n.632-15T=)
c.698-15T= (n.698-15T=)
c.707-15T= (n.707-15T=)
1g.21573652G>ACA2574252888ALPLc.863-13G>A (n.863-13G>A)
c.73-2081G>A
c.632-13G>A (n.632-13G>A)
c.698-13G>A (n.698-13G>A)
c.707-13G>A (n.707-13G>A)
1g.21573652G=CA1158018305ALPLc.863-13G= (n.863-13G=)
c.73-2081G=
c.632-13G= (n.632-13G=)
c.698-13G= (n.698-13G=)
c.707-13G= (n.707-13G=)
1g.21573652G>TCA666659ALPLc.863-13G>T (n.863-13G>T)
c.73-2081G>T
c.632-13G>T (n.632-13G>T)
c.698-13G>T (n.698-13G>T)
c.707-13G>T (n.707-13G>T)
 dbSNP ExAC
1g.21573652_21573653insGGTCA999409671ALPLc.863-13_863-12insGGT (n.863-13_863-12insGGT)
c.73-2081_73-2080insGGT
c.632-13_632-12insGGT (n.632-13_632-12insGGT)
c.698-13_698-12insGGT (n.698-13_698-12insGGT)
c.707-13_707-12insGGT (n.707-13_707-12insGGT)
 dbSNP gnomAD v3 gnomAD v4
1g.21573652_21573653insGGTCCCCCA1158018306ALPLc.863-13_863-12insGGTCCCC (n.863-13_863-12insGGTCCCC)
c.73-2081_73-2080insGGTCCCC
c.632-13_632-12insGGTCCCC (n.632-13_632-12insGGTCCCC)
c.698-13_698-12insGGTCCCC (n.698-13_698-12insGGTCCCC)
c.707-13_707-12insGGTCCCC (n.707-13_707-12insGGTCCCC)
 ClinVar dbSNP
1g.21573653C>ACA2581649601ALPLc.863-12C>A (n.863-12C>A)
c.73-2080C>A
c.632-12C>A (n.632-12C>A)
c.698-12C>A (n.698-12C>A)
c.707-12C>A (n.707-12C>A)
 gnomAD v4
1g.21573653C=CA1140961937ALPLc.863-12C= (n.863-12C=)
c.73-2080C=
c.632-12C= (n.632-12C=)
c.698-12C= (n.698-12C=)
c.707-12C= (n.707-12C=)
1g.21573653C>GCA666660ALPLc.863-12C>G (n.863-12C>G)
c.73-2080C>G
c.632-12C>G (n.632-12C>G)
c.698-12C>G (n.698-12C>G)
c.707-12C>G (n.707-12C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573653C>TCA521577930ALPLc.863-12C>T (n.863-12C>T)
c.73-2080C>T
c.632-12C>T (n.632-12C>T)
c.698-12C>T (n.698-12C>T)
c.707-12C>T (n.707-12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573653_21573654insCCCGCA999409684ALPLc.863-12_863-11insCCCG (n.863-12_863-11insCCCG)
c.73-2080_73-2079insCCCG
c.632-12_632-11insCCCG (n.632-12_632-11insCCCG)
c.698-12_698-11insCCCG (n.698-12_698-11insCCCG)
c.707-12_707-11insCCCG (n.707-12_707-11insCCCG)
 dbSNP gnomAD v3 gnomAD v4
1g.21573654G>ACA666661ALPLc.863-11G>A (n.863-11G>A)
c.73-2079G>A
c.632-11G>A (n.632-11G>A)
c.698-11G>A (n.698-11G>A)
c.707-11G>A (n.707-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573654G=CA1158018307ALPLc.863-11G= (n.863-11G=)
c.73-2079G=
c.632-11G= (n.632-11G=)
c.698-11G= (n.698-11G=)
c.707-11G= (n.707-11G=)
1g.21573654G>TCA2643930959ALPLc.863-11G>T (n.863-11G>T)
c.73-2079G>T
c.632-11G>T (n.632-11G>T)
c.698-11G>T (n.698-11G>T)
c.707-11G>T (n.707-11G>T)
 ClinVar gnomAD v4
1g.21573654_21573657delinsGTCCCA1158018308ALPLc.863-11_863-8delinsGTCC (n.863-11_863-8delinsGTCC)
c.73-2079_73-2076delinsGTCC
c.632-11_632-8delinsGTCC (n.632-11_632-8delinsGTCC)
c.698-11_698-8delinsGTCC (n.698-11_698-8delinsGTCC)
c.707-11_707-8delinsGTCC (n.707-11_707-8delinsGTCC)
1g.21573655T>CCA2643930961ALPLc.863-10T>C (n.863-10T>C)
c.73-2078T>C
c.632-10T>C (n.632-10T>C)
c.698-10T>C (n.698-10T>C)
c.707-10T>C (n.707-10T>C)
 gnomAD v4
1g.21573655T>GCA2695501596ALPLc.863-10T>G (n.863-10T>G)
c.73-2078T>G
c.632-10T>G (n.632-10T>G)
c.698-10T>G (n.698-10T>G)
c.707-10T>G (n.707-10T>G)
 dbSNP
1g.21573660_21573662delCA999409686ALPLc.863-5_863-3del (n.863-5_863-3del)
c.73-2073_73-2071del
c.632-5_632-3del (n.632-5_632-3del)
c.698-5_698-3del (n.698-5_698-3del)
c.707-5_707-3del (n.707-5_707-3del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573656C=CA1158018309ALPLc.863-9C= (n.863-9C=)
c.73-2077C=
c.632-9C= (n.632-9C=)
c.698-9C= (n.698-9C=)
c.707-9C= (n.707-9C=)
1g.21573656C>TCA666662ALPLc.863-9C>T (n.863-9C>T)
c.73-2077C>T
c.632-9C>T (n.632-9C>T)
c.698-9C>T (n.698-9C>T)
c.707-9C>T (n.707-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573657C=CA1158018310ALPLc.863-8C= (n.863-8C=)
c.73-2076C=
c.632-8C= (n.632-8C=)
c.698-8C= (n.698-8C=)
c.707-8C= (n.707-8C=)
1g.21573657C>TCA666663ALPLc.863-8C>T (n.863-8C>T)
c.73-2076C>T
c.632-8C>T (n.632-8C>T)
c.698-8C>T (n.698-8C>T)
c.707-8C>T (n.707-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573658T>ACA2581649602ALPLc.863-7T>A (n.863-7T>A)
c.73-2075T>A
c.632-7T>A (n.632-7T>A)
c.698-7T>A (n.698-7T>A)
c.707-7T>A (n.707-7T>A)
1g.21573658T>CCA666664ALPLc.863-7T>C (n.863-7T>C)
c.73-2075T>C
c.632-7T>C (n.632-7T>C)
c.698-7T>C (n.698-7T>C)
c.707-7T>C (n.707-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573658T>GCA1158018311ALPLc.863-7T>G (n.863-7T>G)
c.73-2075T>G
c.632-7T>G (n.632-7T>G)
c.698-7T>G (n.698-7T>G)
c.707-7T>G (n.707-7T>G)
 dbSNP
1g.21573658T=CA1140862468ALPLc.863-7T= (n.863-7T=)
c.73-2075T=
c.632-7T= (n.632-7T=)
c.698-7T= (n.698-7T=)
c.707-7T= (n.707-7T=)
1g.21573659C=CA1158018312ALPLc.863-6C= (n.863-6C=)
c.73-2074C=
c.632-6C= (n.632-6C=)
c.698-6C= (n.698-6C=)
c.707-6C= (n.707-6C=)
1g.21573659C>TCA1158018313ALPLc.863-6C>T (n.863-6C>T)
c.73-2074C>T
c.632-6C>T (n.632-6C>T)
c.698-6C>T (n.698-6C>T)
c.707-6C>T (n.707-6C>T)
 ClinVar dbSNP gnomAD v4
1g.21573660C=CA1158018314ALPLc.863-5C= (n.863-5C=)
c.73-2073C=
c.632-5C= (n.632-5C=)
c.698-5C= (n.698-5C=)
c.707-5C= (n.707-5C=)
1g.21573660C>TCA521577931ALPLc.863-5C>T (n.863-5C>T)
c.73-2073C>T
c.632-5C>T (n.632-5C>T)
c.698-5C>T (n.698-5C>T)
c.707-5C>T (n.707-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573662C=CA1158018315ALPLc.863-3C= (n.863-3C=)
c.73-2071C=
c.632-3C= (n.632-3C=)
c.698-3C= (n.698-3C=)
c.707-3C= (n.707-3C=)
1g.21573662C>TCA666665ALPLc.863-3C>T (n.863-3C>T)
c.73-2071C>T
c.632-3C>T (n.632-3C>T)
c.698-3C>T (n.698-3C>T)
c.707-3C>T (n.707-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573663A=CA1158018316ALPLc.863-2A= (n.863-2A=)
c.73-2070A=
c.632-2A= (n.632-2A=)
c.698-2A= (n.698-2A=)
c.707-2A= (n.707-2A=)
1g.21573663A>CCA338880154ALPLc.863-2A>C (n.863-2A>C)
c.73-2070A>C
c.632-2A>C (n.632-2A>C)
c.698-2A>C (n.698-2A>C)
c.707-2A>C (n.707-2A>C)
 dbSNP
1g.21573663A>GCA338880155ALPLc.863-2A>G (n.863-2A>G)
c.73-2070A>G
c.632-2A>G (n.632-2A>G)
c.698-2A>G (n.698-2A>G)
c.707-2A>G (n.707-2A>G)
1g.21573663A>TCA338880156ALPLc.863-2A>T (n.863-2A>T)
c.73-2070A>T
c.632-2A>T (n.632-2A>T)
c.698-2A>T (n.698-2A>T)
c.707-2A>T (n.707-2A>T)
 gnomAD v4
1g.21573664G>ACA338880159ALPLc.863-1G>A (n.863-1G>A)
c.73-2069G>A
c.632-1G>A (n.632-1G>A)
c.698-1G>A (n.698-1G>A)
c.707-1G>A (n.707-1G>A)
 dbSNP
1g.21573664G>CCA338880158ALPLc.863-1G>C (n.863-1G>C)
c.73-2069G>C
c.632-1G>C (n.632-1G>C)
c.698-1G>C (n.698-1G>C)
c.707-1G>C (n.707-1G>C)
 COSMIC
1g.21573664G=CA1158018317ALPLc.863-1G= (n.863-1G=)
c.73-2069G=
c.632-1G= (n.632-1G=)
c.698-1G= (n.698-1G=)
c.707-1G= (n.707-1G=)
1g.21573664G>TCA338880157ALPLc.863-1G>T (n.863-1G>T)
c.73-2069G>T
c.632-1G>T (n.632-1G>T)
c.698-1G>T (n.698-1G>T)
c.707-1G>T (n.707-1G>T)
 dbSNP COSMIC
1g.21573665G>ACA338880160ALPLc.863G>A (p.Gly288Asp)
c.73-2068G>A
c.632G>A (p.Gly211Asp)
c.698G>A (p.Gly233Asp)
c.707G>A (p.Gly236Asp)
 ClinVar dbSNP
1g.21573665G>CCA338880161ALPLc.863G>C (p.Gly288Ala)
c.73-2068G>C
c.632G>C (p.Gly211Ala)
c.698G>C (p.Gly233Ala)
c.707G>C (p.Gly236Ala)
1g.21573665G>TCA338880162ALPLc.863G>T (p.Gly288Val)
c.73-2068G>T
c.632G>T (p.Gly211Val)
c.698G>T (p.Gly233Val)
c.707G>T (p.Gly236Val)
1g.21573666T>ACA416532278ALPLc.864T>A (p.Gly288=)
c.73-2067T>A
c.633T>A (p.Gly211=)
c.699T>A (p.Gly233=)
c.708T>A (p.Gly236=)
1g.21573666T>CCA666666ALPLc.864T>C (p.Gly288=)
c.73-2067T>C
c.633T>C (p.Gly211=)
c.699T>C (p.Gly233=)
c.708T>C (p.Gly236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573666T>GCA416532280ALPLc.864T>G (p.Gly288=)
c.73-2067T>G
c.633T>G (p.Gly211=)
c.699T>G (p.Gly233=)
c.708T>G (p.Gly236=)
1g.21573666T=CA1158018318ALPLc.864T= (p.Gly288=)
c.73-2067T=
c.633T= (p.Gly211=)
c.699T= (p.Gly233=)
c.708T= (p.Gly236=)
1g.21573667C>ACA338880163ALPLc.865C>A (p.Leu289Ile)
c.73-2066C>A
c.634C>A (p.Leu212Ile)
c.700C>A (p.Leu234Ile)
c.709C>A (p.Leu237Ile)
1g.21573667C>GCA338880164ALPLc.865C>G (p.Leu289Val)
c.73-2066C>G
c.634C>G (p.Leu212Val)
c.700C>G (p.Leu234Val)
c.709C>G (p.Leu237Val)
1g.21573667C>TCA338880165ALPLc.865C>T (p.Leu289Phe)
c.73-2066C>T
c.634C>T (p.Leu212Phe)
c.700C>T (p.Leu234Phe)
c.709C>T (p.Leu237Phe)
 gnomAD v4
1g.21573668_21573688delCA2643930962ALPLc.866_886del (p.Leu289_Met295del)
c.73-2065_73-2045del
c.635_655del (p.Leu212_Met218del)
c.701_721del (p.Leu234_Met240del)
c.710_730del (p.Leu237_Met243del)
 gnomAD v4
1g.21573668T>ACA338880166ALPLc.866T>A (p.Leu289His)
c.73-2065T>A
c.635T>A (p.Leu212His)
c.701T>A (p.Leu234His)
c.710T>A (p.Leu237His)
1g.21573668T>CCA338880167ALPLc.866T>C (p.Leu289Pro)
c.73-2065T>C
c.635T>C (p.Leu212Pro)
c.701T>C (p.Leu234Pro)
c.710T>C (p.Leu237Pro)
1g.21573668T>GCA338880168ALPLc.866T>G (p.Leu289Arg)
c.73-2065T>G
c.635T>G (p.Leu212Arg)
c.701T>G (p.Leu234Arg)
c.710T>G (p.Leu237Arg)
1g.21573669C>ACA416532297ALPLc.867C>A (p.Leu289=)
c.73-2064C>A
c.636C>A (p.Leu212=)
c.702C>A (p.Leu234=)
c.711C>A (p.Leu237=)
1g.21573669C>GCA416532301ALPLc.867C>G (p.Leu289=)
c.73-2064C>G
c.636C>G (p.Leu212=)
c.702C>G (p.Leu234=)
c.711C>G (p.Leu237=)
1g.21573669C>TCA416532299ALPLc.867C>T (p.Leu289=)
c.73-2064C>T
c.636C>T (p.Leu212=)
c.702C>T (p.Leu234=)
c.711C>T (p.Leu237=)
 ClinVar gnomAD v4
1g.21573670T>ACA338880169ALPLc.868T>A (p.Phe290Ile)
c.73-2063T>A
c.637T>A (p.Phe213Ile)
c.703T>A (p.Phe235Ile)
c.712T>A (p.Phe238Ile)
1g.21573670T>CCA338880170ALPLc.868T>C (p.Phe290Leu)
c.73-2063T>C
c.637T>C (p.Phe213Leu)
c.703T>C (p.Phe235Leu)
c.712T>C (p.Phe238Leu)
1g.21573670T>GCA338880171ALPLc.868T>G (p.Phe290Val)
c.73-2063T>G
c.637T>G (p.Phe213Val)
c.703T>G (p.Phe235Val)
c.712T>G (p.Phe238Val)
1g.21573671T>ACA338880174ALPLc.869T>A (p.Phe290Tyr)
c.73-2062T>A
c.638T>A (p.Phe213Tyr)
c.704T>A (p.Phe235Tyr)
c.713T>A (p.Phe238Tyr)
1g.21573671T>CCA338880172ALPLc.869T>C (p.Phe290Ser)
c.73-2062T>C
c.638T>C (p.Phe213Ser)
c.704T>C (p.Phe235Ser)
c.713T>C (p.Phe238Ser)
1g.21573671T>GCA338880173ALPLc.869T>G (p.Phe290Cys)
c.73-2062T>G
c.638T>G (p.Phe213Cys)
c.704T>G (p.Phe235Cys)
c.713T>G (p.Phe238Cys)
1g.21573672C>ACA338880175ALPLc.870C>A (p.Phe290Leu)
c.73-2061C>A
c.639C>A (p.Phe213Leu)
c.705C>A (p.Phe235Leu)
c.714C>A (p.Phe238Leu)
1g.21573672C=CA1158018319ALPLc.870C= (p.Phe290=)
c.73-2061C=
c.639C= (p.Phe213=)
c.705C= (p.Phe235=)
c.714C= (p.Phe238=)
1g.21573672C>GCA338880176ALPLc.870C>G (p.Phe290Leu)
c.73-2061C>G
c.639C>G (p.Phe213Leu)
c.705C>G (p.Phe235Leu)
c.714C>G (p.Phe238Leu)
1g.21573672C>TCA666667ALPLc.870C>T (p.Phe290=)
c.73-2061C>T
c.639C>T (p.Phe213=)
c.705C>T (p.Phe235=)
c.714C>T (p.Phe238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21573673G>ACA273965ALPLc.871G>A (p.Glu291Lys)
c.73-2060G>A
c.640G>A (p.Glu214Lys)
c.706G>A (p.Glu236Lys)
c.715G>A (p.Glu239Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573673G>CCA338880177ALPLc.871G>C (p.Glu291Gln)
c.73-2060G>C
c.640G>C (p.Glu214Gln)
c.706G>C (p.Glu236Gln)
c.715G>C (p.Glu239Gln)
 ClinVar
1g.21573673G=CA1158018320ALPLc.871G= (p.Glu291=)
c.73-2060G=
c.640G= (p.Glu214=)
c.706G= (p.Glu236=)
c.715G= (p.Glu239=)
1g.21573673G>TCA338880178ALPLc.871G>T (p.Glu291Ter)
c.73-2060G>T
c.640G>T (p.Glu214Ter)
c.706G>T (p.Glu236Ter)
c.715G>T (p.Glu239Ter)
 ClinVar
1g.21573674A>CCA338880179ALPLc.872A>C (p.Glu291Ala)
c.73-2059A>C
c.641A>C (p.Glu214Ala)
c.707A>C (p.Glu236Ala)
c.716A>C (p.Glu239Ala)
1g.21573674A>GCA338880180ALPLc.872A>G (p.Glu291Gly)
c.73-2059A>G
c.641A>G (p.Glu214Gly)
c.707A>G (p.Glu236Gly)
c.716A>G (p.Glu239Gly)
1g.21573674A>TCA338880181ALPLc.872A>T (p.Glu291Val)
c.73-2059A>T
c.641A>T (p.Glu214Val)
c.707A>T (p.Glu236Val)
c.716A>T (p.Glu239Val)
1g.21573675G>ACA416532326ALPLc.873G>A (p.Glu291=)
c.73-2058G>A
c.642G>A (p.Glu214=)
c.708G>A (p.Glu236=)
c.717G>A (p.Glu239=)
 gnomAD v4
1g.21573675G>CCA338880182ALPLc.873G>C (p.Glu291Asp)
c.73-2058G>C
c.642G>C (p.Glu214Asp)
c.708G>C (p.Glu236Asp)
c.717G>C (p.Glu239Asp)
1g.21573675G>TCA338880183ALPLc.873G>T (p.Glu291Asp)
c.73-2058G>T
c.642G>T (p.Glu214Asp)
c.708G>T (p.Glu236Asp)
c.717G>T (p.Glu239Asp)
 gnomAD v4
1g.21573676C>ACA666669ALPLc.874C>A (p.Pro292Thr)
c.73-2057C>A
c.643C>A (p.Pro215Thr)
c.709C>A (p.Pro237Thr)
c.718C>A (p.Pro240Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573676C=CA1158018321ALPLc.874C= (p.Pro292=)
c.73-2057C=
c.643C= (p.Pro215=)
c.709C= (p.Pro237=)
c.718C= (p.Pro240=)
1g.21573676C>GCA338880184ALPLc.874C>G (p.Pro292Ala)
c.73-2057C>G
c.643C>G (p.Pro215Ala)
c.709C>G (p.Pro237Ala)
c.718C>G (p.Pro240Ala)
1g.21573676C>TCA666668ALPLc.874C>T (p.Pro292Ser)
c.73-2057C>T
c.643C>T (p.Pro215Ser)
c.709C>T (p.Pro237Ser)
c.718C>T (p.Pro240Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573677C>ACA338880185ALPLc.875C>A (p.Pro292Gln)
c.73-2056C>A
c.644C>A (p.Pro215Gln)
c.710C>A (p.Pro237Gln)
c.719C>A (p.Pro240Gln)
 gnomAD v4
1g.21573677C=CA1158018324ALPLc.875C= (p.Pro292=)
c.73-2056C=
c.644C= (p.Pro215=)
c.710C= (p.Pro237=)
c.719C= (p.Pro240=)
1g.21573677C>GCA338880187ALPLc.875C>G (p.Pro292Arg)
c.73-2056C>G
c.644C>G (p.Pro215Arg)
c.710C>G (p.Pro237Arg)
c.719C>G (p.Pro240Arg)
1g.21573677C>TCA338880186ALPLc.875C>T (p.Pro292Leu)
c.73-2056C>T
c.644C>T (p.Pro215Leu)
c.710C>T (p.Pro237Leu)
c.719C>T (p.Pro240Leu)
 dbSNP gnomAD v4
1g.21573677_21573683delinsTCA2586964054ALPLc.875_881delinsT (p.Pro292_Asp294delinsLeu)
c.73-2056_73-2050delinsT
c.644_650delinsT (p.Pro215_Asp217delinsLeu)
c.710_716delinsT (p.Pro237_Asp239delinsLeu)
c.719_725delinsT (p.Pro240_Asp242delinsLeu)
1g.21573677_21573683delinsCAGGGGACA1158018322ALPLc.875_881delinsCAGGGGA (p.Pro292=)
c.73-2056_73-2050delinsCAGGGGA
c.644_650delinsCAGGGGA (p.Pro215=)
c.710_716delinsCAGGGGA (p.Pro237=)
c.719_725delinsCAGGGGA (p.Pro240=)
1g.21573677_21573684delinsCAGGGGACCA1158018323ALPLc.875_882delinsCAGGGGAC (p.Pro292=)
c.73-2056_73-2049delinsCAGGGGAC
c.644_651delinsCAGGGGAC (p.Pro215=)
c.710_717delinsCAGGGGAC (p.Pro237=)
c.719_726delinsCAGGGGAC (p.Pro240=)
1g.21573679_21573685delCA2586964055ALPLc.877_883del (p.Gly293CysfsTer5)
c.73-2054_73-2048del
c.646_652del (p.Gly216CysfsTer5)
c.712_718del (p.Gly238CysfsTer5)
c.721_727del (p.Gly241CysfsTer5)
1g.21573678A=CA1139989381ALPLc.876A= (p.Pro292=)
c.73-2055A=
c.645A= (p.Pro215=)
c.711A= (p.Pro237=)
c.720A= (p.Pro240=)
1g.21573678A>CCA416532353ALPLc.876A>C (p.Pro292=)
c.73-2055A>C
c.645A>C (p.Pro215=)
c.711A>C (p.Pro237=)
c.720A>C (p.Pro240=)
 dbSNP gnomAD v3 gnomAD v4
1g.21573678A>GCA666670ALPLc.876A>G (p.Pro292=)
c.73-2055A>G
c.645A>G (p.Pro215=)
c.711A>G (p.Pro237=)
c.720A>G (p.Pro240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573678A>TCA416532351ALPLc.876A>T (p.Pro292=)
c.73-2055A>T
c.645A>T (p.Pro215=)
c.711A>T (p.Pro237=)
c.720A>T (p.Pro240=)
 dbSNP
1g.21573678_21573683delCA416532345ALPLc.876_881del (p.Gly293_Asp294del)
c.73-2055_73-2050del
c.645_650del (p.Gly216_Asp217del)
c.711_716del (p.Gly238_Asp239del)
c.720_725del (p.Gly241_Asp242del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573678_21573684delinsTCA658656891ALPLc.876_882delinsT (p.Gly293_Asp294del)
c.73-2055_73-2049delinsT
c.645_651delinsT (p.Gly216_Asp217del)
c.711_717delinsT (p.Gly238_Asp239del)
c.720_726delinsT (p.Gly241_Asp242del)
 ClinVar dbSNP
1g.21573679G>ACA338880191ALPLc.877G>A (p.Gly293Arg)
c.73-2054G>A
c.646G>A (p.Gly216Arg)
c.712G>A (p.Gly238Arg)
c.721G>A (p.Gly241Arg)
1g.21573679G>CCA338880188ALPLc.877G>C (p.Gly293Arg)
c.73-2054G>C
c.646G>C (p.Gly216Arg)
c.712G>C (p.Gly238Arg)
c.721G>C (p.Gly241Arg)
1g.21573679G>TCA338880189ALPLc.877G>T (p.Gly293Trp)
c.73-2054G>T
c.646G>T (p.Gly216Trp)
c.712G>T (p.Gly238Trp)
c.721G>T (p.Gly241Trp)
1g.21573682delCA2574252925ALPLc.880del (p.Asp294ThrfsTer6)
c.73-2051del
c.649del (p.Asp217ThrfsTer6)
c.715del (p.Asp239ThrfsTer6)
c.724del (p.Asp242ThrfsTer6)
 ClinVar
1g.21573679_21573684delCA338880190ALPLc.877_882del (p.Gly293_Asp294del)
c.73-2054_73-2049del
c.646_651del (p.Gly216_Asp217del)
c.712_717del (p.Gly238_Asp239del)
c.721_726del (p.Gly241_Asp242del)
 ClinVar
1g.21573680G>ACA338880192ALPLc.878G>A (p.Gly293Glu)
c.73-2053G>A
c.647G>A (p.Gly216Glu)
c.713G>A (p.Gly238Glu)
c.722G>A (p.Gly241Glu)
1g.21573680G>CCA338880193ALPLc.878G>C (p.Gly293Ala)
c.73-2053G>C
c.647G>C (p.Gly216Ala)
c.713G>C (p.Gly238Ala)
c.722G>C (p.Gly241Ala)
1g.21573680G>TCA338880194ALPLc.878G>T (p.Gly293Val)
c.73-2053G>T
c.647G>T (p.Gly216Val)
c.713G>T (p.Gly238Val)
c.722G>T (p.Gly241Val)
1g.21573681G>ACA416532370ALPLc.879G>A (p.Gly293=)
c.73-2052G>A
c.648G>A (p.Gly216=)
c.714G>A (p.Gly238=)
c.723G>A (p.Gly241=)
 ClinVar gnomAD v4
1g.21573681G>CCA416532367ALPLc.879G>C (p.Gly293=)
c.73-2052G>C
c.648G>C (p.Gly216=)
c.714G>C (p.Gly238=)
c.723G>C (p.Gly241=)
1g.21573681G>TCA416532373ALPLc.879G>T (p.Gly293=)
c.73-2052G>T
c.648G>T (p.Gly216=)
c.714G>T (p.Gly238=)
c.723G>T (p.Gly241=)
 ClinVar
1g.21573682G>ACA338880195ALPLc.880G>A (p.Asp294Asn)
c.73-2051G>A
c.649G>A (p.Asp217Asn)
c.715G>A (p.Asp239Asn)
c.724G>A (p.Asp242Asn)
 ClinVar
1g.21573682G>CCA338880196ALPLc.880G>C (p.Asp294His)
c.73-2051G>C
c.649G>C (p.Asp217His)
c.715G>C (p.Asp239His)
c.724G>C (p.Asp242His)
 gnomAD v4
1g.21573682G=CA1158018325ALPLc.880G= (p.Asp294=)
c.73-2051G=
c.649G= (p.Asp217=)
c.715G= (p.Asp239=)
c.724G= (p.Asp242=)
1g.21573682G>TCA338880197ALPLc.880G>T (p.Asp294Tyr)
c.73-2051G>T
c.649G>T (p.Asp217Tyr)
c.715G>T (p.Asp239Tyr)
c.724G>T (p.Asp242Tyr)
 ClinVar dbSNP gnomAD v4
1g.21573683A=CA1141580643ALPLc.881A= (p.Asp294=)
c.73-2050A=
c.650A= (p.Asp217=)
c.716A= (p.Asp239=)
c.725A= (p.Asp242=)
1g.21573683A>CCA256921ALPLc.881A>C (p.Asp294Ala)
c.73-2050A>C
c.650A>C (p.Asp217Ala)
c.716A>C (p.Asp239Ala)
c.725A>C (p.Asp242Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573683A>GCA338880198ALPLc.881A>G (p.Asp294Gly)
c.73-2050A>G
c.650A>G (p.Asp217Gly)
c.716A>G (p.Asp239Gly)
c.725A>G (p.Asp242Gly)
 ClinVar
1g.21573683A>TCA338880199ALPLc.881A>T (p.Asp294Val)
c.73-2050A>T
c.650A>T (p.Asp217Val)
c.716A>T (p.Asp239Val)
c.725A>T (p.Asp242Val)
1g.21573684C>ACA338880201ALPLc.882C>A (p.Asp294Glu)
c.73-2049C>A
c.651C>A (p.Asp217Glu)
c.717C>A (p.Asp239Glu)
c.726C>A (p.Asp242Glu)
 dbSNP gnomAD v4
1g.21573684C=CA1158018326ALPLc.882C= (p.Asp294=)
c.73-2049C=
c.651C= (p.Asp217=)
c.717C= (p.Asp239=)
c.726C= (p.Asp242=)
1g.21573684C>GCA338880200ALPLc.882C>G (p.Asp294Glu)
c.73-2049C>G
c.651C>G (p.Asp217Glu)
c.717C>G (p.Asp239Glu)
c.726C>G (p.Asp242Glu)
1g.21573684C>TCA416532406ALPLc.882C>T (p.Asp294=)
c.73-2049C>T
c.651C>T (p.Asp217=)
c.717C>T (p.Asp239=)
c.726C>T (p.Asp242=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573685A=CA1158018327ALPLc.883A= (p.Met295=)
c.73-2048A=
c.652A= (p.Met218=)
c.718A= (p.Met240=)
c.727A= (p.Met243=)
1g.21573685A>CCA338880202ALPLc.883A>C (p.Met295Leu)
c.73-2048A>C
c.652A>C (p.Met218Leu)
c.718A>C (p.Met240Leu)
c.727A>C (p.Met243Leu)
1g.21573685A>GCA338880203ALPLc.883A>G (p.Met295Val)
c.73-2048A>G
c.652A>G (p.Met218Val)
c.718A>G (p.Met240Val)
c.727A>G (p.Met243Val)
 ClinVar gnomAD v4
1g.21573685A>TCA338880204ALPLc.883A>T (p.Met295Leu)
c.73-2048A>T
c.652A>T (p.Met218Leu)
c.718A>T (p.Met240Leu)
c.727A>T (p.Met243Leu)
 dbSNP
1g.21573686T>ACA338880205ALPLc.884T>A (p.Met295Lys)
c.73-2047T>A
c.653T>A (p.Met218Lys)
c.719T>A (p.Met240Lys)
c.728T>A (p.Met243Lys)
1g.21573686T>CCA338880206ALPLc.884T>C (p.Met295Thr)
c.73-2047T>C
c.653T>C (p.Met218Thr)
c.719T>C (p.Met240Thr)
c.728T>C (p.Met243Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573686T>GCA338880207ALPLc.884T>G (p.Met295Arg)
c.73-2047T>G
c.653T>G (p.Met218Arg)
c.719T>G (p.Met240Arg)
c.728T>G (p.Met243Arg)
1g.21573686T=CA1158018328ALPLc.884T= (p.Met295=)
c.73-2047T=
c.653T= (p.Met218=)
c.719T= (p.Met240=)
c.728T= (p.Met243=)
1g.21573687G>ACA338880208ALPLc.885G>A (p.Met295Ile)
c.73-2046G>A
c.654G>A (p.Met218Ile)
c.720G>A (p.Met240Ile)
c.729G>A (p.Met243Ile)
1g.21573687G>CCA338880209ALPLc.885G>C (p.Met295Ile)
c.73-2046G>C
c.654G>C (p.Met218Ile)
c.720G>C (p.Met240Ile)
c.729G>C (p.Met243Ile)
1g.21573687G>TCA338880210ALPLc.885G>T (p.Met295Ile)
c.73-2046G>T
c.654G>T (p.Met218Ile)
c.720G>T (p.Met240Ile)
c.729G>T (p.Met243Ile)

Number of alleles fetched