Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219489175dupCA2843203625ASIC4-AS1,SPEGc.8271dup (p.Pro2758AlafsTer7)
n.7514dup
c.7989dup (p.Pro2664AlafsTer7)
c.5895dup (p.Pro1966AlafsTer7)
c.5724dup (p.Pro1909AlafsTer7)
c.5910dup (p.Pro1971AlafsTer7)
c.7959dup (p.Pro2654AlafsTer7)
c.8301dup (p.Pro2768AlafsTer7)
c.8133dup (p.Pro2712AlafsTer7)
c.8124dup (p.Pro2709AlafsTer7)
c.8118dup (p.Pro2707AlafsTer7)
c.8040dup (p.Pro2681AlafsTer7)
c.7956dup (p.Pro2653AlafsTer7)
n.353-6763dup
c.8019dup (p.Pro2674AlafsTer7)
c.3279dup (p.Pro1094AlafsTer7)
n.392-6763dup
2g.219489174G>ACA350708766ASIC4-AS1,SPEGc.8270G>A (p.Gly2757Glu)
n.7513G>A
c.7988G>A (p.Gly2663Glu)
c.5894G>A (p.Gly1965Glu)
c.5723G>A (p.Gly1908Glu)
c.5909G>A (p.Gly1970Glu)
c.7958G>A (p.Gly2653Glu)
c.8300G>A (p.Gly2767Glu)
c.8132G>A (p.Gly2711Glu)
c.8123G>A (p.Gly2708Glu)
c.8117G>A (p.Gly2706Glu)
c.8039G>A (p.Gly2680Glu)
c.7955G>A (p.Gly2652Glu)
n.353-6765C>T
c.8018G>A (p.Gly2673Glu)
c.3278G>A (p.Gly1093Glu)
n.392-6765C>T
 gnomAD v4
2g.219489174G>CCA350708767ASIC4-AS1,SPEGc.8270G>C (p.Gly2757Ala)
n.7513G>C
c.7988G>C (p.Gly2663Ala)
c.5894G>C (p.Gly1965Ala)
c.5723G>C (p.Gly1908Ala)
c.5909G>C (p.Gly1970Ala)
c.7958G>C (p.Gly2653Ala)
c.8300G>C (p.Gly2767Ala)
c.8132G>C (p.Gly2711Ala)
c.8123G>C (p.Gly2708Ala)
c.8117G>C (p.Gly2706Ala)
c.8039G>C (p.Gly2680Ala)
c.7955G>C (p.Gly2652Ala)
n.353-6765C>G
c.8018G>C (p.Gly2673Ala)
c.3278G>C (p.Gly1093Ala)
n.392-6765C>G
2g.219489174G=CA1329242233ASIC4-AS1,SPEGc.8270G= (p.Gly2757=)
n.7513G=
c.7988G= (p.Gly2663=)
c.5894G= (p.Gly1965=)
c.5723G= (p.Gly1908=)
c.5909G= (p.Gly1970=)
c.7958G= (p.Gly2653=)
c.8300G= (p.Gly2767=)
c.8132G= (p.Gly2711=)
c.8123G= (p.Gly2708=)
c.8117G= (p.Gly2706=)
c.8039G= (p.Gly2680=)
c.7955G= (p.Gly2652=)
n.353-6765C=
c.8018G= (p.Gly2673=)
c.3278G= (p.Gly1093=)
n.392-6765C=
2g.219489174G>TCA170646ASIC4-AS1,SPEGc.8270G>T (p.Gly2757Val)
n.7513G>T
c.7988G>T (p.Gly2663Val)
c.5894G>T (p.Gly1965Val)
c.5723G>T (p.Gly1908Val)
c.5909G>T (p.Gly1970Val)
c.7958G>T (p.Gly2653Val)
c.8300G>T (p.Gly2767Val)
c.8132G>T (p.Gly2711Val)
c.8123G>T (p.Gly2708Val)
c.8117G>T (p.Gly2706Val)
c.8039G>T (p.Gly2680Val)
c.7955G>T (p.Gly2652Val)
n.353-6765C>A
c.8018G>T (p.Gly2673Val)
c.3278G>T (p.Gly1093Val)
n.392-6765C>A
 ClinVar dbSNP
2g.219489175G>ACA2127438ASIC4-AS1,SPEGc.8271G>A (p.Gly2757=)
n.7514G>A
c.7989G>A (p.Gly2663=)
c.5895G>A (p.Gly1965=)
c.5724G>A (p.Gly1908=)
c.5910G>A (p.Gly1970=)
c.7959G>A (p.Gly2653=)
c.8301G>A (p.Gly2767=)
c.8133G>A (p.Gly2711=)
c.8124G>A (p.Gly2708=)
c.8118G>A (p.Gly2706=)
c.8040G>A (p.Gly2680=)
c.7956G>A (p.Gly2652=)
n.353-6766C>T
c.8019G>A (p.Gly2673=)
c.3279G>A (p.Gly1093=)
n.392-6766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489175G>CCA431431436ASIC4-AS1,SPEGc.8271G>C (p.Gly2757=)
n.7514G>C
c.7989G>C (p.Gly2663=)
c.5895G>C (p.Gly1965=)
c.5724G>C (p.Gly1908=)
c.5910G>C (p.Gly1970=)
c.7959G>C (p.Gly2653=)
c.8301G>C (p.Gly2767=)
c.8133G>C (p.Gly2711=)
c.8124G>C (p.Gly2708=)
c.8118G>C (p.Gly2706=)
c.8040G>C (p.Gly2680=)
c.7956G>C (p.Gly2652=)
n.353-6766C>G
c.8019G>C (p.Gly2673=)
c.3279G>C (p.Gly1093=)
n.392-6766C>G
2g.219489175G=CA1329242234ASIC4-AS1,SPEGc.8271G= (p.Gly2757=)
n.7514G=
c.7989G= (p.Gly2663=)
c.5895G= (p.Gly1965=)
c.5724G= (p.Gly1908=)
c.5910G= (p.Gly1970=)
c.7959G= (p.Gly2653=)
c.8301G= (p.Gly2767=)
c.8133G= (p.Gly2711=)
c.8124G= (p.Gly2708=)
c.8118G= (p.Gly2706=)
c.8040G= (p.Gly2680=)
c.7956G= (p.Gly2652=)
n.353-6766C=
c.8019G= (p.Gly2673=)
c.3279G= (p.Gly1093=)
n.392-6766C=
2g.219489175G>TCA431431438ASIC4-AS1,SPEGc.8271G>T (p.Gly2757=)
n.7514G>T
c.7989G>T (p.Gly2663=)
c.5895G>T (p.Gly1965=)
c.5724G>T (p.Gly1908=)
c.5910G>T (p.Gly1970=)
c.7959G>T (p.Gly2653=)
c.8301G>T (p.Gly2767=)
c.8133G>T (p.Gly2711=)
c.8124G>T (p.Gly2708=)
c.8118G>T (p.Gly2706=)
c.8040G>T (p.Gly2680=)
c.7956G>T (p.Gly2652=)
n.353-6766C>A
c.8019G>T (p.Gly2673=)
c.3279G>T (p.Gly1093=)
n.392-6766C>A
 ClinVar
2g.219489176C>ACA350708768ASIC4-AS1,SPEGc.8272C>A (p.Pro2758Thr)
n.7515C>A
c.7990C>A (p.Pro2664Thr)
c.5896C>A (p.Pro1966Thr)
c.5725C>A (p.Pro1909Thr)
c.5911C>A (p.Pro1971Thr)
c.7960C>A (p.Pro2654Thr)
c.8302C>A (p.Pro2768Thr)
c.8134C>A (p.Pro2712Thr)
c.8125C>A (p.Pro2709Thr)
c.8119C>A (p.Pro2707Thr)
c.8041C>A (p.Pro2681Thr)
c.7957C>A (p.Pro2653Thr)
n.353-6767G>T
c.8020C>A (p.Pro2674Thr)
c.3280C>A (p.Pro1094Thr)
n.392-6767G>T
2g.219489176C>GCA350708769ASIC4-AS1,SPEGc.8272C>G (p.Pro2758Ala)
n.7515C>G
c.7990C>G (p.Pro2664Ala)
c.5896C>G (p.Pro1966Ala)
c.5725C>G (p.Pro1909Ala)
c.5911C>G (p.Pro1971Ala)
c.7960C>G (p.Pro2654Ala)
c.8302C>G (p.Pro2768Ala)
c.8134C>G (p.Pro2712Ala)
c.8125C>G (p.Pro2709Ala)
c.8119C>G (p.Pro2707Ala)
c.8041C>G (p.Pro2681Ala)
c.7957C>G (p.Pro2653Ala)
n.353-6767G>C
c.8020C>G (p.Pro2674Ala)
c.3280C>G (p.Pro1094Ala)
n.392-6767G>C
2g.219489176C>TCA350708770ASIC4-AS1,SPEGc.8272C>T (p.Pro2758Ser)
n.7515C>T
c.7990C>T (p.Pro2664Ser)
c.5896C>T (p.Pro1966Ser)
c.5725C>T (p.Pro1909Ser)
c.5911C>T (p.Pro1971Ser)
c.7960C>T (p.Pro2654Ser)
c.8302C>T (p.Pro2768Ser)
c.8134C>T (p.Pro2712Ser)
c.8125C>T (p.Pro2709Ser)
c.8119C>T (p.Pro2707Ser)
c.8041C>T (p.Pro2681Ser)
c.7957C>T (p.Pro2653Ser)
n.353-6767G>A
c.8020C>T (p.Pro2674Ser)
c.3280C>T (p.Pro1094Ser)
n.392-6767G>A
 gnomAD v4
2g.219489177C>ACA350708771ASIC4-AS1,SPEGc.8273C>A (p.Pro2758His)
n.7516C>A
c.7991C>A (p.Pro2664His)
c.5897C>A (p.Pro1966His)
c.5726C>A (p.Pro1909His)
c.5912C>A (p.Pro1971His)
c.7961C>A (p.Pro2654His)
c.8303C>A (p.Pro2768His)
c.8135C>A (p.Pro2712His)
c.8126C>A (p.Pro2709His)
c.8120C>A (p.Pro2707His)
c.8042C>A (p.Pro2681His)
c.7958C>A (p.Pro2653His)
n.353-6768G>T
c.8021C>A (p.Pro2674His)
c.3281C>A (p.Pro1094His)
n.392-6768G>T
2g.219489177C=CA1329242235ASIC4-AS1,SPEGc.8273C= (p.Pro2758=)
n.7516C=
c.7991C= (p.Pro2664=)
c.5897C= (p.Pro1966=)
c.5726C= (p.Pro1909=)
c.5912C= (p.Pro1971=)
c.7961C= (p.Pro2654=)
c.8303C= (p.Pro2768=)
c.8135C= (p.Pro2712=)
c.8126C= (p.Pro2709=)
c.8120C= (p.Pro2707=)
c.8042C= (p.Pro2681=)
c.7958C= (p.Pro2653=)
n.353-6768G=
c.8021C= (p.Pro2674=)
c.3281C= (p.Pro1094=)
n.392-6768G=
2g.219489177C>GCA350708772ASIC4-AS1,SPEGc.8273C>G (p.Pro2758Arg)
n.7516C>G
c.7991C>G (p.Pro2664Arg)
c.5897C>G (p.Pro1966Arg)
c.5726C>G (p.Pro1909Arg)
c.5912C>G (p.Pro1971Arg)
c.7961C>G (p.Pro2654Arg)
c.8303C>G (p.Pro2768Arg)
c.8135C>G (p.Pro2712Arg)
c.8126C>G (p.Pro2709Arg)
c.8120C>G (p.Pro2707Arg)
c.8042C>G (p.Pro2681Arg)
c.7958C>G (p.Pro2653Arg)
n.353-6768G>C
c.8021C>G (p.Pro2674Arg)
c.3281C>G (p.Pro1094Arg)
n.392-6768G>C
 dbSNP gnomAD v4
2g.219489177C>TCA2127439ASIC4-AS1,SPEGc.8273C>T (p.Pro2758Leu)
n.7516C>T
c.7991C>T (p.Pro2664Leu)
c.5897C>T (p.Pro1966Leu)
c.5726C>T (p.Pro1909Leu)
c.5912C>T (p.Pro1971Leu)
c.7961C>T (p.Pro2654Leu)
c.8303C>T (p.Pro2768Leu)
c.8135C>T (p.Pro2712Leu)
c.8126C>T (p.Pro2709Leu)
c.8120C>T (p.Pro2707Leu)
c.8042C>T (p.Pro2681Leu)
c.7958C>T (p.Pro2653Leu)
n.353-6768G>A
c.8021C>T (p.Pro2674Leu)
c.3281C>T (p.Pro1094Leu)
n.392-6768G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489178C>ACA431431443ASIC4-AS1,SPEGc.8274C>A (p.Pro2758=)
n.7517C>A
c.7992C>A (p.Pro2664=)
c.5898C>A (p.Pro1966=)
c.5727C>A (p.Pro1909=)
c.5913C>A (p.Pro1971=)
c.7962C>A (p.Pro2654=)
c.8304C>A (p.Pro2768=)
c.8136C>A (p.Pro2712=)
c.8127C>A (p.Pro2709=)
c.8121C>A (p.Pro2707=)
c.8043C>A (p.Pro2681=)
c.7959C>A (p.Pro2653=)
n.353-6769G>T
c.8022C>A (p.Pro2674=)
c.3282C>A (p.Pro1094=)
n.392-6769G>T
2g.219489178C>GCA431431446ASIC4-AS1,SPEGc.8274C>G (p.Pro2758=)
n.7517C>G
c.7992C>G (p.Pro2664=)
c.5898C>G (p.Pro1966=)
c.5727C>G (p.Pro1909=)
c.5913C>G (p.Pro1971=)
c.7962C>G (p.Pro2654=)
c.8304C>G (p.Pro2768=)
c.8136C>G (p.Pro2712=)
c.8127C>G (p.Pro2709=)
c.8121C>G (p.Pro2707=)
c.8043C>G (p.Pro2681=)
c.7959C>G (p.Pro2653=)
n.353-6769G>C
c.8022C>G (p.Pro2674=)
c.3282C>G (p.Pro1094=)
n.392-6769G>C
 gnomAD v4
2g.219489178C>TCA431431445ASIC4-AS1,SPEGc.8274C>T (p.Pro2758=)
n.7517C>T
c.7992C>T (p.Pro2664=)
c.5898C>T (p.Pro1966=)
c.5727C>T (p.Pro1909=)
c.5913C>T (p.Pro1971=)
c.7962C>T (p.Pro2654=)
c.8304C>T (p.Pro2768=)
c.8136C>T (p.Pro2712=)
c.8127C>T (p.Pro2709=)
c.8121C>T (p.Pro2707=)
c.8043C>T (p.Pro2681=)
c.7959C>T (p.Pro2653=)
n.353-6769G>A
c.8022C>T (p.Pro2674=)
c.3282C>T (p.Pro1094=)
n.392-6769G>A
2g.219489179T>ACA350708773ASIC4-AS1,SPEGc.8275T>A (p.Phe2759Ile)
n.7518T>A
c.7993T>A (p.Phe2665Ile)
c.5899T>A (p.Phe1967Ile)
c.5728T>A (p.Phe1910Ile)
c.5914T>A (p.Phe1972Ile)
c.7963T>A (p.Phe2655Ile)
c.8305T>A (p.Phe2769Ile)
c.8137T>A (p.Phe2713Ile)
c.8128T>A (p.Phe2710Ile)
c.8122T>A (p.Phe2708Ile)
c.8044T>A (p.Phe2682Ile)
c.7960T>A (p.Phe2654Ile)
n.353-6770A>T
c.8023T>A (p.Phe2675Ile)
c.3283T>A (p.Phe1095Ile)
n.392-6770A>T
2g.219489179T>CCA350708774ASIC4-AS1,SPEGc.8275T>C (p.Phe2759Leu)
n.7518T>C
c.7993T>C (p.Phe2665Leu)
c.5899T>C (p.Phe1967Leu)
c.5728T>C (p.Phe1910Leu)
c.5914T>C (p.Phe1972Leu)
c.7963T>C (p.Phe2655Leu)
c.8305T>C (p.Phe2769Leu)
c.8137T>C (p.Phe2713Leu)
c.8128T>C (p.Phe2710Leu)
c.8122T>C (p.Phe2708Leu)
c.8044T>C (p.Phe2682Leu)
c.7960T>C (p.Phe2654Leu)
n.353-6770A>G
c.8023T>C (p.Phe2675Leu)
c.3283T>C (p.Phe1095Leu)
n.392-6770A>G
2g.219489179T>GCA350708775ASIC4-AS1,SPEGc.8275T>G (p.Phe2759Val)
n.7518T>G
c.7993T>G (p.Phe2665Val)
c.5899T>G (p.Phe1967Val)
c.5728T>G (p.Phe1910Val)
c.5914T>G (p.Phe1972Val)
c.7963T>G (p.Phe2655Val)
c.8305T>G (p.Phe2769Val)
c.8137T>G (p.Phe2713Val)
c.8128T>G (p.Phe2710Val)
c.8122T>G (p.Phe2708Val)
c.8044T>G (p.Phe2682Val)
c.7960T>G (p.Phe2654Val)
n.353-6770A>C
c.8023T>G (p.Phe2675Val)
c.3283T>G (p.Phe1095Val)
n.392-6770A>C
2g.219489180T>ACA350708776ASIC4-AS1,SPEGc.8276T>A (p.Phe2759Tyr)
n.7519T>A
c.7994T>A (p.Phe2665Tyr)
c.5900T>A (p.Phe1967Tyr)
c.5729T>A (p.Phe1910Tyr)
c.5915T>A (p.Phe1972Tyr)
c.7964T>A (p.Phe2655Tyr)
c.8306T>A (p.Phe2769Tyr)
c.8138T>A (p.Phe2713Tyr)
c.8129T>A (p.Phe2710Tyr)
c.8123T>A (p.Phe2708Tyr)
c.8045T>A (p.Phe2682Tyr)
c.7961T>A (p.Phe2654Tyr)
n.353-6771A>T
c.8024T>A (p.Phe2675Tyr)
c.3284T>A (p.Phe1095Tyr)
n.392-6771A>T
2g.219489180T>CCA350708778ASIC4-AS1,SPEGc.8276T>C (p.Phe2759Ser)
n.7519T>C
c.7994T>C (p.Phe2665Ser)
c.5900T>C (p.Phe1967Ser)
c.5729T>C (p.Phe1910Ser)
c.5915T>C (p.Phe1972Ser)
c.7964T>C (p.Phe2655Ser)
c.8306T>C (p.Phe2769Ser)
c.8138T>C (p.Phe2713Ser)
c.8129T>C (p.Phe2710Ser)
c.8123T>C (p.Phe2708Ser)
c.8045T>C (p.Phe2682Ser)
c.7961T>C (p.Phe2654Ser)
n.353-6771A>G
c.8024T>C (p.Phe2675Ser)
c.3284T>C (p.Phe1095Ser)
n.392-6771A>G
2g.219489180T>GCA350708777ASIC4-AS1,SPEGc.8276T>G (p.Phe2759Cys)
n.7519T>G
c.7994T>G (p.Phe2665Cys)
c.5900T>G (p.Phe1967Cys)
c.5729T>G (p.Phe1910Cys)
c.5915T>G (p.Phe1972Cys)
c.7964T>G (p.Phe2655Cys)
c.8306T>G (p.Phe2769Cys)
c.8138T>G (p.Phe2713Cys)
c.8129T>G (p.Phe2710Cys)
c.8123T>G (p.Phe2708Cys)
c.8045T>G (p.Phe2682Cys)
c.7961T>G (p.Phe2654Cys)
n.353-6771A>C
c.8024T>G (p.Phe2675Cys)
c.3284T>G (p.Phe1095Cys)
n.392-6771A>C
2g.219489181C>ACA350708779ASIC4-AS1,SPEGc.8277C>A (p.Phe2759Leu)
n.7520C>A
c.7995C>A (p.Phe2665Leu)
c.5901C>A (p.Phe1967Leu)
c.5730C>A (p.Phe1910Leu)
c.5916C>A (p.Phe1972Leu)
c.7965C>A (p.Phe2655Leu)
c.8307C>A (p.Phe2769Leu)
c.8139C>A (p.Phe2713Leu)
c.8130C>A (p.Phe2710Leu)
c.8124C>A (p.Phe2708Leu)
c.8046C>A (p.Phe2682Leu)
c.7962C>A (p.Phe2654Leu)
n.353-6772G>T
c.8025C>A (p.Phe2675Leu)
c.3285C>A (p.Phe1095Leu)
n.392-6772G>T
2g.219489181C>GCA350708780ASIC4-AS1,SPEGc.8277C>G (p.Phe2759Leu)
n.7520C>G
c.7995C>G (p.Phe2665Leu)
c.5901C>G (p.Phe1967Leu)
c.5730C>G (p.Phe1910Leu)
c.5916C>G (p.Phe1972Leu)
c.7965C>G (p.Phe2655Leu)
c.8307C>G (p.Phe2769Leu)
c.8139C>G (p.Phe2713Leu)
c.8130C>G (p.Phe2710Leu)
c.8124C>G (p.Phe2708Leu)
c.8046C>G (p.Phe2682Leu)
c.7962C>G (p.Phe2654Leu)
n.353-6772G>C
c.8025C>G (p.Phe2675Leu)
c.3285C>G (p.Phe1095Leu)
n.392-6772G>C
2g.219489181C>TCA431431447ASIC4-AS1,SPEGc.8277C>T (p.Phe2759=)
n.7520C>T
c.7995C>T (p.Phe2665=)
c.5901C>T (p.Phe1967=)
c.5730C>T (p.Phe1910=)
c.5916C>T (p.Phe1972=)
c.7965C>T (p.Phe2655=)
c.8307C>T (p.Phe2769=)
c.8139C>T (p.Phe2713=)
c.8130C>T (p.Phe2710=)
c.8124C>T (p.Phe2708=)
c.8046C>T (p.Phe2682=)
c.7962C>T (p.Phe2654=)
n.353-6772G>A
c.8025C>T (p.Phe2675=)
c.3285C>T (p.Phe1095=)
n.392-6772G>A
 gnomAD v4
2g.219489182A>CCA350708781ASIC4-AS1,SPEGc.8278A>C (p.Ser2760Arg)
n.7521A>C
c.7996A>C (p.Ser2666Arg)
c.5902A>C (p.Ser1968Arg)
c.5731A>C (p.Ser1911Arg)
c.5917A>C (p.Ser1973Arg)
c.7966A>C (p.Ser2656Arg)
c.8308A>C (p.Ser2770Arg)
c.8140A>C (p.Ser2714Arg)
c.8131A>C (p.Ser2711Arg)
c.8125A>C (p.Ser2709Arg)
c.8047A>C (p.Ser2683Arg)
c.7963A>C (p.Ser2655Arg)
n.353-6773T>G
c.8026A>C (p.Ser2676Arg)
c.3286A>C (p.Ser1096Arg)
n.392-6773T>G
2g.219489182A>GCA350708782ASIC4-AS1,SPEGc.8278A>G (p.Ser2760Gly)
n.7521A>G
c.7996A>G (p.Ser2666Gly)
c.5902A>G (p.Ser1968Gly)
c.5731A>G (p.Ser1911Gly)
c.5917A>G (p.Ser1973Gly)
c.7966A>G (p.Ser2656Gly)
c.8308A>G (p.Ser2770Gly)
c.8140A>G (p.Ser2714Gly)
c.8131A>G (p.Ser2711Gly)
c.8125A>G (p.Ser2709Gly)
c.8047A>G (p.Ser2683Gly)
c.7963A>G (p.Ser2655Gly)
n.353-6773T>C
c.8026A>G (p.Ser2676Gly)
c.3286A>G (p.Ser1096Gly)
n.392-6773T>C
2g.219489182A>TCA350708783ASIC4-AS1,SPEGc.8278A>T (p.Ser2760Cys)
n.7521A>T
c.7996A>T (p.Ser2666Cys)
c.5902A>T (p.Ser1968Cys)
c.5731A>T (p.Ser1911Cys)
c.5917A>T (p.Ser1973Cys)
c.7966A>T (p.Ser2656Cys)
c.8308A>T (p.Ser2770Cys)
c.8140A>T (p.Ser2714Cys)
c.8131A>T (p.Ser2711Cys)
c.8125A>T (p.Ser2709Cys)
c.8047A>T (p.Ser2683Cys)
c.7963A>T (p.Ser2655Cys)
n.353-6773T>A
c.8026A>T (p.Ser2676Cys)
c.3286A>T (p.Ser1096Cys)
n.392-6773T>A
2g.219489183G>ACA350708784ASIC4-AS1,SPEGc.8279G>A (p.Ser2760Asn)
n.7522G>A
c.7997G>A (p.Ser2666Asn)
c.5903G>A (p.Ser1968Asn)
c.5732G>A (p.Ser1911Asn)
c.5918G>A (p.Ser1973Asn)
c.7967G>A (p.Ser2656Asn)
c.8309G>A (p.Ser2770Asn)
c.8141G>A (p.Ser2714Asn)
c.8132G>A (p.Ser2711Asn)
c.8126G>A (p.Ser2709Asn)
c.8048G>A (p.Ser2683Asn)
c.7964G>A (p.Ser2655Asn)
n.353-6774C>T
c.8027G>A (p.Ser2676Asn)
c.3287G>A (p.Ser1096Asn)
n.392-6774C>T
2g.219489183G>CCA350708785ASIC4-AS1,SPEGc.8279G>C (p.Ser2760Thr)
n.7522G>C
c.7997G>C (p.Ser2666Thr)
c.5903G>C (p.Ser1968Thr)
c.5732G>C (p.Ser1911Thr)
c.5918G>C (p.Ser1973Thr)
c.7967G>C (p.Ser2656Thr)
c.8309G>C (p.Ser2770Thr)
c.8141G>C (p.Ser2714Thr)
c.8132G>C (p.Ser2711Thr)
c.8126G>C (p.Ser2709Thr)
c.8048G>C (p.Ser2683Thr)
c.7964G>C (p.Ser2655Thr)
n.353-6774C>G
c.8027G>C (p.Ser2676Thr)
c.3287G>C (p.Ser1096Thr)
n.392-6774C>G
2g.219489183G>TCA350708786ASIC4-AS1,SPEGc.8279G>T (p.Ser2760Ile)
n.7522G>T
c.7997G>T (p.Ser2666Ile)
c.5903G>T (p.Ser1968Ile)
c.5732G>T (p.Ser1911Ile)
c.5918G>T (p.Ser1973Ile)
c.7967G>T (p.Ser2656Ile)
c.8309G>T (p.Ser2770Ile)
c.8141G>T (p.Ser2714Ile)
c.8132G>T (p.Ser2711Ile)
c.8126G>T (p.Ser2709Ile)
c.8048G>T (p.Ser2683Ile)
c.7964G>T (p.Ser2655Ile)
n.353-6774C>A
c.8027G>T (p.Ser2676Ile)
c.3287G>T (p.Ser1096Ile)
n.392-6774C>A
2g.219489184C>ACA350708787ASIC4-AS1,SPEGc.8280C>A (p.Ser2760Arg)
n.7523C>A
c.7998C>A (p.Ser2666Arg)
c.5904C>A (p.Ser1968Arg)
c.5733C>A (p.Ser1911Arg)
c.5919C>A (p.Ser1973Arg)
c.7968C>A (p.Ser2656Arg)
c.8310C>A (p.Ser2770Arg)
c.8142C>A (p.Ser2714Arg)
c.8133C>A (p.Ser2711Arg)
c.8127C>A (p.Ser2709Arg)
c.8049C>A (p.Ser2683Arg)
c.7965C>A (p.Ser2655Arg)
n.353-6775G>T
c.8028C>A (p.Ser2676Arg)
c.3288C>A (p.Ser1096Arg)
n.392-6775G>T
2g.219489184C>GCA350708788ASIC4-AS1,SPEGc.8280C>G (p.Ser2760Arg)
n.7523C>G
c.7998C>G (p.Ser2666Arg)
c.5904C>G (p.Ser1968Arg)
c.5733C>G (p.Ser1911Arg)
c.5919C>G (p.Ser1973Arg)
c.7968C>G (p.Ser2656Arg)
c.8310C>G (p.Ser2770Arg)
c.8142C>G (p.Ser2714Arg)
c.8133C>G (p.Ser2711Arg)
c.8127C>G (p.Ser2709Arg)
c.8049C>G (p.Ser2683Arg)
c.7965C>G (p.Ser2655Arg)
n.353-6775G>C
c.8028C>G (p.Ser2676Arg)
c.3288C>G (p.Ser1096Arg)
n.392-6775G>C
2g.219489184C>TCA431431448ASIC4-AS1,SPEGc.8280C>T (p.Ser2760=)
n.7523C>T
c.7998C>T (p.Ser2666=)
c.5904C>T (p.Ser1968=)
c.5733C>T (p.Ser1911=)
c.5919C>T (p.Ser1973=)
c.7968C>T (p.Ser2656=)
c.8310C>T (p.Ser2770=)
c.8142C>T (p.Ser2714=)
c.8133C>T (p.Ser2711=)
c.8127C>T (p.Ser2709=)
c.8049C>T (p.Ser2683=)
c.7965C>T (p.Ser2655=)
n.353-6775G>A
c.8028C>T (p.Ser2676=)
c.3288C>T (p.Ser1096=)
n.392-6775G>A
2g.219489185A=CA1329242236ASIC4-AS1,SPEGc.8281A= (p.Asn2761=)
n.7524A=
c.7999A= (p.Asn2667=)
c.5905A= (p.Asn1969=)
c.5734A= (p.Asn1912=)
c.5920A= (p.Asn1974=)
c.7969A= (p.Asn2657=)
c.8311A= (p.Asn2771=)
c.8143A= (p.Asn2715=)
c.8134A= (p.Asn2712=)
c.8128A= (p.Asn2710=)
c.8050A= (p.Asn2684=)
c.7966A= (p.Asn2656=)
n.353-6776T=
c.8029A= (p.Asn2677=)
c.3289A= (p.Asn1097=)
n.392-6776T=
2g.219489185A>CCA2127440ASIC4-AS1,SPEGc.8281A>C (p.Asn2761His)
n.7524A>C
c.7999A>C (p.Asn2667His)
c.5905A>C (p.Asn1969His)
c.5734A>C (p.Asn1912His)
c.5920A>C (p.Asn1974His)
c.7969A>C (p.Asn2657His)
c.8311A>C (p.Asn2771His)
c.8143A>C (p.Asn2715His)
c.8134A>C (p.Asn2712His)
c.8128A>C (p.Asn2710His)
c.8050A>C (p.Asn2684His)
c.7966A>C (p.Asn2656His)
n.353-6776T>G
c.8029A>C (p.Asn2677His)
c.3289A>C (p.Asn1097His)
n.392-6776T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489185A>GCA350708790ASIC4-AS1,SPEGc.8281A>G (p.Asn2761Asp)
n.7524A>G
c.7999A>G (p.Asn2667Asp)
c.5905A>G (p.Asn1969Asp)
c.5734A>G (p.Asn1912Asp)
c.5920A>G (p.Asn1974Asp)
c.7969A>G (p.Asn2657Asp)
c.8311A>G (p.Asn2771Asp)
c.8143A>G (p.Asn2715Asp)
c.8134A>G (p.Asn2712Asp)
c.8128A>G (p.Asn2710Asp)
c.8050A>G (p.Asn2684Asp)
c.7966A>G (p.Asn2656Asp)
n.353-6776T>C
c.8029A>G (p.Asn2677Asp)
c.3289A>G (p.Asn1097Asp)
n.392-6776T>C
 gnomAD v4
2g.219489185A>TCA350708789ASIC4-AS1,SPEGc.8281A>T (p.Asn2761Tyr)
n.7524A>T
c.7999A>T (p.Asn2667Tyr)
c.5905A>T (p.Asn1969Tyr)
c.5734A>T (p.Asn1912Tyr)
c.5920A>T (p.Asn1974Tyr)
c.7969A>T (p.Asn2657Tyr)
c.8311A>T (p.Asn2771Tyr)
c.8143A>T (p.Asn2715Tyr)
c.8134A>T (p.Asn2712Tyr)
c.8128A>T (p.Asn2710Tyr)
c.8050A>T (p.Asn2684Tyr)
c.7966A>T (p.Asn2656Tyr)
n.353-6776T>A
c.8029A>T (p.Asn2677Tyr)
c.3289A>T (p.Asn1097Tyr)
n.392-6776T>A
 gnomAD v4
2g.219489186A=CA1329242237ASIC4-AS1,SPEGc.8282A= (p.Asn2761=)
n.7525A=
c.8000A= (p.Asn2667=)
c.5906A= (p.Asn1969=)
c.5735A= (p.Asn1912=)
c.5921A= (p.Asn1974=)
c.7970A= (p.Asn2657=)
c.8312A= (p.Asn2771=)
c.8144A= (p.Asn2715=)
c.8135A= (p.Asn2712=)
c.8129A= (p.Asn2710=)
c.8051A= (p.Asn2684=)
c.7967A= (p.Asn2656=)
n.353-6777T=
c.8030A= (p.Asn2677=)
c.3290A= (p.Asn1097=)
n.392-6777T=
2g.219489186A>CCA350708791ASIC4-AS1,SPEGc.8282A>C (p.Asn2761Thr)
n.7525A>C
c.8000A>C (p.Asn2667Thr)
c.5906A>C (p.Asn1969Thr)
c.5735A>C (p.Asn1912Thr)
c.5921A>C (p.Asn1974Thr)
c.7970A>C (p.Asn2657Thr)
c.8312A>C (p.Asn2771Thr)
c.8144A>C (p.Asn2715Thr)
c.8135A>C (p.Asn2712Thr)
c.8129A>C (p.Asn2710Thr)
c.8051A>C (p.Asn2684Thr)
c.7967A>C (p.Asn2656Thr)
n.353-6777T>G
c.8030A>C (p.Asn2677Thr)
c.3290A>C (p.Asn1097Thr)
n.392-6777T>G
2g.219489186A>GCA350708793ASIC4-AS1,SPEGc.8282A>G (p.Asn2761Ser)
n.7525A>G
c.8000A>G (p.Asn2667Ser)
c.5906A>G (p.Asn1969Ser)
c.5735A>G (p.Asn1912Ser)
c.5921A>G (p.Asn1974Ser)
c.7970A>G (p.Asn2657Ser)
c.8312A>G (p.Asn2771Ser)
c.8144A>G (p.Asn2715Ser)
c.8135A>G (p.Asn2712Ser)
c.8129A>G (p.Asn2710Ser)
c.8051A>G (p.Asn2684Ser)
c.7967A>G (p.Asn2656Ser)
n.353-6777T>C
c.8030A>G (p.Asn2677Ser)
c.3290A>G (p.Asn1097Ser)
n.392-6777T>C
 dbSNP gnomAD v2
2g.219489186A>TCA350708792ASIC4-AS1,SPEGc.8282A>T (p.Asn2761Ile)
n.7525A>T
c.8000A>T (p.Asn2667Ile)
c.5906A>T (p.Asn1969Ile)
c.5735A>T (p.Asn1912Ile)
c.5921A>T (p.Asn1974Ile)
c.7970A>T (p.Asn2657Ile)
c.8312A>T (p.Asn2771Ile)
c.8144A>T (p.Asn2715Ile)
c.8135A>T (p.Asn2712Ile)
c.8129A>T (p.Asn2710Ile)
c.8051A>T (p.Asn2684Ile)
c.7967A>T (p.Asn2656Ile)
n.353-6777T>A
c.8030A>T (p.Asn2677Ile)
c.3290A>T (p.Asn1097Ile)
n.392-6777T>A
2g.219489187C>ACA350708794ASIC4-AS1,SPEGc.8283C>A (p.Asn2761Lys)
n.7526C>A
c.8001C>A (p.Asn2667Lys)
c.5907C>A (p.Asn1969Lys)
c.5736C>A (p.Asn1912Lys)
c.5922C>A (p.Asn1974Lys)
c.7971C>A (p.Asn2657Lys)
c.8313C>A (p.Asn2771Lys)
c.8145C>A (p.Asn2715Lys)
c.8136C>A (p.Asn2712Lys)
c.8130C>A (p.Asn2710Lys)
c.8052C>A (p.Asn2684Lys)
c.7968C>A (p.Asn2656Lys)
n.353-6778G>T
c.8031C>A (p.Asn2677Lys)
c.3291C>A (p.Asn1097Lys)
n.392-6778G>T
2g.219489187C>GCA350708795ASIC4-AS1,SPEGc.8283C>G (p.Asn2761Lys)
n.7526C>G
c.8001C>G (p.Asn2667Lys)
c.5907C>G (p.Asn1969Lys)
c.5736C>G (p.Asn1912Lys)
c.5922C>G (p.Asn1974Lys)
c.7971C>G (p.Asn2657Lys)
c.8313C>G (p.Asn2771Lys)
c.8145C>G (p.Asn2715Lys)
c.8136C>G (p.Asn2712Lys)
c.8130C>G (p.Asn2710Lys)
c.8052C>G (p.Asn2684Lys)
c.7968C>G (p.Asn2656Lys)
n.353-6778G>C
c.8031C>G (p.Asn2677Lys)
c.3291C>G (p.Asn1097Lys)
n.392-6778G>C
2g.219489187C>TCA431431455ASIC4-AS1,SPEGc.8283C>T (p.Asn2761=)
n.7526C>T
c.8001C>T (p.Asn2667=)
c.5907C>T (p.Asn1969=)
c.5736C>T (p.Asn1912=)
c.5922C>T (p.Asn1974=)
c.7971C>T (p.Asn2657=)
c.8313C>T (p.Asn2771=)
c.8145C>T (p.Asn2715=)
c.8136C>T (p.Asn2712=)
c.8130C>T (p.Asn2710=)
c.8052C>T (p.Asn2684=)
c.7968C>T (p.Asn2656=)
n.353-6778G>A
c.8031C>T (p.Asn2677=)
c.3291C>T (p.Asn1097=)
n.392-6778G>A
2g.219489188T>ACA350708796ASIC4-AS1,SPEGc.8284T>A (p.Ser2762Thr)
n.7527T>A
c.8002T>A (p.Ser2668Thr)
c.5908T>A (p.Ser1970Thr)
c.5737T>A (p.Ser1913Thr)
c.5923T>A (p.Ser1975Thr)
c.7972T>A (p.Ser2658Thr)
c.8314T>A (p.Ser2772Thr)
c.8146T>A (p.Ser2716Thr)
c.8137T>A (p.Ser2713Thr)
c.8131T>A (p.Ser2711Thr)
c.8053T>A (p.Ser2685Thr)
c.7969T>A (p.Ser2657Thr)
n.353-6779A>T
c.8032T>A (p.Ser2678Thr)
c.3292T>A (p.Ser1098Thr)
n.392-6779A>T
2g.219489188T>CCA350708797ASIC4-AS1,SPEGc.8284T>C (p.Ser2762Pro)
n.7527T>C
c.8002T>C (p.Ser2668Pro)
c.5908T>C (p.Ser1970Pro)
c.5737T>C (p.Ser1913Pro)
c.5923T>C (p.Ser1975Pro)
c.7972T>C (p.Ser2658Pro)
c.8314T>C (p.Ser2772Pro)
c.8146T>C (p.Ser2716Pro)
c.8137T>C (p.Ser2713Pro)
c.8131T>C (p.Ser2711Pro)
c.8053T>C (p.Ser2685Pro)
c.7969T>C (p.Ser2657Pro)
n.353-6779A>G
c.8032T>C (p.Ser2678Pro)
c.3292T>C (p.Ser1098Pro)
n.392-6779A>G
 dbSNP
2g.219489188T>GCA350708798ASIC4-AS1,SPEGc.8284T>G (p.Ser2762Ala)
n.7527T>G
c.8002T>G (p.Ser2668Ala)
c.5908T>G (p.Ser1970Ala)
c.5737T>G (p.Ser1913Ala)
c.5923T>G (p.Ser1975Ala)
c.7972T>G (p.Ser2658Ala)
c.8314T>G (p.Ser2772Ala)
c.8146T>G (p.Ser2716Ala)
c.8137T>G (p.Ser2713Ala)
c.8131T>G (p.Ser2711Ala)
c.8053T>G (p.Ser2685Ala)
c.7969T>G (p.Ser2657Ala)
n.353-6779A>C
c.8032T>G (p.Ser2678Ala)
c.3292T>G (p.Ser1098Ala)
n.392-6779A>C
2g.219489189C>ACA350708799ASIC4-AS1,SPEGc.8285C>A (p.Ser2762Tyr)
n.7528C>A
c.8003C>A (p.Ser2668Tyr)
c.5909C>A (p.Ser1970Tyr)
c.5738C>A (p.Ser1913Tyr)
c.5924C>A (p.Ser1975Tyr)
c.7973C>A (p.Ser2658Tyr)
c.8315C>A (p.Ser2772Tyr)
c.8147C>A (p.Ser2716Tyr)
c.8138C>A (p.Ser2713Tyr)
c.8132C>A (p.Ser2711Tyr)
c.8054C>A (p.Ser2685Tyr)
c.7970C>A (p.Ser2657Tyr)
n.353-6780G>T
c.8033C>A (p.Ser2678Tyr)
c.3293C>A (p.Ser1098Tyr)
n.392-6780G>T
2g.219489189C>GCA350708800ASIC4-AS1,SPEGc.8285C>G (p.Ser2762Cys)
n.7528C>G
c.8003C>G (p.Ser2668Cys)
c.5909C>G (p.Ser1970Cys)
c.5738C>G (p.Ser1913Cys)
c.5924C>G (p.Ser1975Cys)
c.7973C>G (p.Ser2658Cys)
c.8315C>G (p.Ser2772Cys)
c.8147C>G (p.Ser2716Cys)
c.8138C>G (p.Ser2713Cys)
c.8132C>G (p.Ser2711Cys)
c.8054C>G (p.Ser2685Cys)
c.7970C>G (p.Ser2657Cys)
n.353-6780G>C
c.8033C>G (p.Ser2678Cys)
c.3293C>G (p.Ser1098Cys)
n.392-6780G>C
 gnomAD v4
2g.219489189C>TCA350708801ASIC4-AS1,SPEGc.8285C>T (p.Ser2762Phe)
n.7528C>T
c.8003C>T (p.Ser2668Phe)
c.5909C>T (p.Ser1970Phe)
c.5738C>T (p.Ser1913Phe)
c.5924C>T (p.Ser1975Phe)
c.7973C>T (p.Ser2658Phe)
c.8315C>T (p.Ser2772Phe)
c.8147C>T (p.Ser2716Phe)
c.8138C>T (p.Ser2713Phe)
c.8132C>T (p.Ser2711Phe)
c.8054C>T (p.Ser2685Phe)
c.7970C>T (p.Ser2657Phe)
n.353-6780G>A
c.8033C>T (p.Ser2678Phe)
c.3293C>T (p.Ser1098Phe)
n.392-6780G>A
2g.219489190T>ACA431431456ASIC4-AS1,SPEGc.8286T>A (p.Ser2762=)
n.7529T>A
c.8004T>A (p.Ser2668=)
c.5910T>A (p.Ser1970=)
c.5739T>A (p.Ser1913=)
c.5925T>A (p.Ser1975=)
c.7974T>A (p.Ser2658=)
c.8316T>A (p.Ser2772=)
c.8148T>A (p.Ser2716=)
c.8139T>A (p.Ser2713=)
c.8133T>A (p.Ser2711=)
c.8055T>A (p.Ser2685=)
c.7971T>A (p.Ser2657=)
n.353-6781A>T
c.8034T>A (p.Ser2678=)
c.3294T>A (p.Ser1098=)
n.392-6781A>T
2g.219489190T>CCA431431457ASIC4-AS1,SPEGc.8286T>C (p.Ser2762=)
n.7529T>C
c.8004T>C (p.Ser2668=)
c.5910T>C (p.Ser1970=)
c.5739T>C (p.Ser1913=)
c.5925T>C (p.Ser1975=)
c.7974T>C (p.Ser2658=)
c.8316T>C (p.Ser2772=)
c.8148T>C (p.Ser2716=)
c.8139T>C (p.Ser2713=)
c.8133T>C (p.Ser2711=)
c.8055T>C (p.Ser2685=)
c.7971T>C (p.Ser2657=)
n.353-6781A>G
c.8034T>C (p.Ser2678=)
c.3294T>C (p.Ser1098=)
n.392-6781A>G
 gnomAD v4
2g.219489190T>GCA431431458ASIC4-AS1,SPEGc.8286T>G (p.Ser2762=)
n.7529T>G
c.8004T>G (p.Ser2668=)
c.5910T>G (p.Ser1970=)
c.5739T>G (p.Ser1913=)
c.5925T>G (p.Ser1975=)
c.7974T>G (p.Ser2658=)
c.8316T>G (p.Ser2772=)
c.8148T>G (p.Ser2716=)
c.8139T>G (p.Ser2713=)
c.8133T>G (p.Ser2711=)
c.8055T>G (p.Ser2685=)
c.7971T>G (p.Ser2657=)
n.353-6781A>C
c.8034T>G (p.Ser2678=)
c.3294T>G (p.Ser1098=)
n.392-6781A>C
2g.219489191T>ACA350708802ASIC4-AS1,SPEGc.8287T>A (p.Ser2763Thr)
n.7530T>A
c.8005T>A (p.Ser2669Thr)
c.5911T>A (p.Ser1971Thr)
c.5740T>A (p.Ser1914Thr)
c.5926T>A (p.Ser1976Thr)
c.7975T>A (p.Ser2659Thr)
c.8317T>A (p.Ser2773Thr)
c.8149T>A (p.Ser2717Thr)
c.8140T>A (p.Ser2714Thr)
c.8134T>A (p.Ser2712Thr)
c.8056T>A (p.Ser2686Thr)
c.7972T>A (p.Ser2658Thr)
n.353-6782A>T
c.8035T>A (p.Ser2679Thr)
c.3295T>A (p.Ser1099Thr)
n.392-6782A>T
2g.219489191T>CCA350708803ASIC4-AS1,SPEGc.8287T>C (p.Ser2763Pro)
n.7530T>C
c.8005T>C (p.Ser2669Pro)
c.5911T>C (p.Ser1971Pro)
c.5740T>C (p.Ser1914Pro)
c.5926T>C (p.Ser1976Pro)
c.7975T>C (p.Ser2659Pro)
c.8317T>C (p.Ser2773Pro)
c.8149T>C (p.Ser2717Pro)
c.8140T>C (p.Ser2714Pro)
c.8134T>C (p.Ser2712Pro)
c.8056T>C (p.Ser2686Pro)
c.7972T>C (p.Ser2658Pro)
n.353-6782A>G
c.8035T>C (p.Ser2679Pro)
c.3295T>C (p.Ser1099Pro)
n.392-6782A>G
2g.219489191T>GCA350708804ASIC4-AS1,SPEGc.8287T>G (p.Ser2763Ala)
n.7530T>G
c.8005T>G (p.Ser2669Ala)
c.5911T>G (p.Ser1971Ala)
c.5740T>G (p.Ser1914Ala)
c.5926T>G (p.Ser1976Ala)
c.7975T>G (p.Ser2659Ala)
c.8317T>G (p.Ser2773Ala)
c.8149T>G (p.Ser2717Ala)
c.8140T>G (p.Ser2714Ala)
c.8134T>G (p.Ser2712Ala)
c.8056T>G (p.Ser2686Ala)
c.7972T>G (p.Ser2658Ala)
n.353-6782A>C
c.8035T>G (p.Ser2679Ala)
c.3295T>G (p.Ser1099Ala)
n.392-6782A>C
2g.219489192C>ACA350708805ASIC4-AS1,SPEGc.8288C>A (p.Ser2763Tyr)
n.7531C>A
c.8006C>A (p.Ser2669Tyr)
c.5912C>A (p.Ser1971Tyr)
c.5741C>A (p.Ser1914Tyr)
c.5927C>A (p.Ser1976Tyr)
c.7976C>A (p.Ser2659Tyr)
c.8318C>A (p.Ser2773Tyr)
c.8150C>A (p.Ser2717Tyr)
c.8141C>A (p.Ser2714Tyr)
c.8135C>A (p.Ser2712Tyr)
c.8057C>A (p.Ser2686Tyr)
c.7973C>A (p.Ser2658Tyr)
n.353-6783G>T
c.8036C>A (p.Ser2679Tyr)
c.3296C>A (p.Ser1099Tyr)
n.392-6783G>T
2g.219489192C>GCA350708806ASIC4-AS1,SPEGc.8288C>G (p.Ser2763Cys)
n.7531C>G
c.8006C>G (p.Ser2669Cys)
c.5912C>G (p.Ser1971Cys)
c.5741C>G (p.Ser1914Cys)
c.5927C>G (p.Ser1976Cys)
c.7976C>G (p.Ser2659Cys)
c.8318C>G (p.Ser2773Cys)
c.8150C>G (p.Ser2717Cys)
c.8141C>G (p.Ser2714Cys)
c.8135C>G (p.Ser2712Cys)
c.8057C>G (p.Ser2686Cys)
c.7973C>G (p.Ser2658Cys)
n.353-6783G>C
c.8036C>G (p.Ser2679Cys)
c.3296C>G (p.Ser1099Cys)
n.392-6783G>C
2g.219489192C>TCA350708807ASIC4-AS1,SPEGc.8288C>T (p.Ser2763Phe)
n.7531C>T
c.8006C>T (p.Ser2669Phe)
c.5912C>T (p.Ser1971Phe)
c.5741C>T (p.Ser1914Phe)
c.5927C>T (p.Ser1976Phe)
c.7976C>T (p.Ser2659Phe)
c.8318C>T (p.Ser2773Phe)
c.8150C>T (p.Ser2717Phe)
c.8141C>T (p.Ser2714Phe)
c.8135C>T (p.Ser2712Phe)
c.8057C>T (p.Ser2686Phe)
c.7973C>T (p.Ser2658Phe)
n.353-6783G>A
c.8036C>T (p.Ser2679Phe)
c.3296C>T (p.Ser1099Phe)
n.392-6783G>A
 gnomAD v4
2g.219489193T>ACA431431466ASIC4-AS1,SPEGc.8289T>A (p.Ser2763=)
n.7532T>A
c.8007T>A (p.Ser2669=)
c.5913T>A (p.Ser1971=)
c.5742T>A (p.Ser1914=)
c.5928T>A (p.Ser1976=)
c.7977T>A (p.Ser2659=)
c.8319T>A (p.Ser2773=)
c.8151T>A (p.Ser2717=)
c.8142T>A (p.Ser2714=)
c.8136T>A (p.Ser2712=)
c.8058T>A (p.Ser2686=)
c.7974T>A (p.Ser2658=)
n.353-6784A>T
c.8037T>A (p.Ser2679=)
c.3297T>A (p.Ser1099=)
n.392-6784A>T
2g.219489193T>CCA65996976ASIC4-AS1,SPEGc.8289T>C (p.Ser2763=)
n.7532T>C
c.8007T>C (p.Ser2669=)
c.5913T>C (p.Ser1971=)
c.5742T>C (p.Ser1914=)
c.5928T>C (p.Ser1976=)
c.7977T>C (p.Ser2659=)
c.8319T>C (p.Ser2773=)
c.8151T>C (p.Ser2717=)
c.8142T>C (p.Ser2714=)
c.8136T>C (p.Ser2712=)
c.8058T>C (p.Ser2686=)
c.7974T>C (p.Ser2658=)
n.353-6784A>G
c.8037T>C (p.Ser2679=)
c.3297T>C (p.Ser1099=)
n.392-6784A>G
 ClinVar dbSNP gnomAD v4
2g.219489193T>GCA431431467ASIC4-AS1,SPEGc.8289T>G (p.Ser2763=)
n.7532T>G
c.8007T>G (p.Ser2669=)
c.5913T>G (p.Ser1971=)
c.5742T>G (p.Ser1914=)
c.5928T>G (p.Ser1976=)
c.7977T>G (p.Ser2659=)
c.8319T>G (p.Ser2773=)
c.8151T>G (p.Ser2717=)
c.8142T>G (p.Ser2714=)
c.8136T>G (p.Ser2712=)
c.8058T>G (p.Ser2686=)
c.7974T>G (p.Ser2658=)
n.353-6784A>C
c.8037T>G (p.Ser2679=)
c.3297T>G (p.Ser1099=)
n.392-6784A>C
2g.219489193T=CA1329242238ASIC4-AS1,SPEGc.8289T= (p.Ser2763=)
n.7532T=
c.8007T= (p.Ser2669=)
c.5913T= (p.Ser1971=)
c.5742T= (p.Ser1914=)
c.5928T= (p.Ser1976=)
c.7977T= (p.Ser2659=)
c.8319T= (p.Ser2773=)
c.8151T= (p.Ser2717=)
c.8142T= (p.Ser2714=)
c.8136T= (p.Ser2712=)
c.8058T= (p.Ser2686=)
c.7974T= (p.Ser2658=)
n.353-6784A=
c.8037T= (p.Ser2679=)
c.3297T= (p.Ser1099=)
n.392-6784A=
2g.219489194G>ACA350708809ASIC4-AS1,SPEGc.8290G>A (p.Glu2764Lys)
n.7533G>A
c.8008G>A (p.Glu2670Lys)
c.5914G>A (p.Glu1972Lys)
c.5743G>A (p.Glu1915Lys)
c.5929G>A (p.Glu1977Lys)
c.7978G>A (p.Glu2660Lys)
c.8320G>A (p.Glu2774Lys)
c.8152G>A (p.Glu2718Lys)
c.8143G>A (p.Glu2715Lys)
c.8137G>A (p.Glu2713Lys)
c.8059G>A (p.Glu2687Lys)
c.7975G>A (p.Glu2659Lys)
n.353-6785C>T
c.8038G>A (p.Glu2680Lys)
c.3298G>A (p.Glu1100Lys)
n.392-6785C>T
2g.219489194G>CCA2127441ASIC4-AS1,SPEGc.8290G>C (p.Glu2764Gln)
n.7533G>C
c.8008G>C (p.Glu2670Gln)
c.5914G>C (p.Glu1972Gln)
c.5743G>C (p.Glu1915Gln)
c.5929G>C (p.Glu1977Gln)
c.7978G>C (p.Glu2660Gln)
c.8320G>C (p.Glu2774Gln)
c.8152G>C (p.Glu2718Gln)
c.8143G>C (p.Glu2715Gln)
c.8137G>C (p.Glu2713Gln)
c.8059G>C (p.Glu2687Gln)
c.7975G>C (p.Glu2659Gln)
n.353-6785C>G
c.8038G>C (p.Glu2680Gln)
c.3298G>C (p.Glu1100Gln)
n.392-6785C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489194G=CA1329242239ASIC4-AS1,SPEGc.8290G= (p.Glu2764=)
n.7533G=
c.8008G= (p.Glu2670=)
c.5914G= (p.Glu1972=)
c.5743G= (p.Glu1915=)
c.5929G= (p.Glu1977=)
c.7978G= (p.Glu2660=)
c.8320G= (p.Glu2774=)
c.8152G= (p.Glu2718=)
c.8143G= (p.Glu2715=)
c.8137G= (p.Glu2713=)
c.8059G= (p.Glu2687=)
c.7975G= (p.Glu2659=)
n.353-6785C=
c.8038G= (p.Glu2680=)
c.3298G= (p.Glu1100=)
n.392-6785C=
2g.219489194G>TCA350708808ASIC4-AS1,SPEGc.8290G>T (p.Glu2764Ter)
n.7533G>T
c.8008G>T (p.Glu2670Ter)
c.5914G>T (p.Glu1972Ter)
c.5743G>T (p.Glu1915Ter)
c.5929G>T (p.Glu1977Ter)
c.7978G>T (p.Glu2660Ter)
c.8320G>T (p.Glu2774Ter)
c.8152G>T (p.Glu2718Ter)
c.8143G>T (p.Glu2715Ter)
c.8137G>T (p.Glu2713Ter)
c.8059G>T (p.Glu2687Ter)
c.7975G>T (p.Glu2659Ter)
n.353-6785C>A
c.8038G>T (p.Glu2680Ter)
c.3298G>T (p.Glu1100Ter)
n.392-6785C>A
2g.219489195A>CCA350708810ASIC4-AS1,SPEGc.8291A>C (p.Glu2764Ala)
n.7534A>C
c.8009A>C (p.Glu2670Ala)
c.5915A>C (p.Glu1972Ala)
c.5744A>C (p.Glu1915Ala)
c.5930A>C (p.Glu1977Ala)
c.7979A>C (p.Glu2660Ala)
c.8321A>C (p.Glu2774Ala)
c.8153A>C (p.Glu2718Ala)
c.8144A>C (p.Glu2715Ala)
c.8138A>C (p.Glu2713Ala)
c.8060A>C (p.Glu2687Ala)
c.7976A>C (p.Glu2659Ala)
n.353-6786T>G
c.8039A>C (p.Glu2680Ala)
c.3299A>C (p.Glu1100Ala)
n.392-6786T>G
2g.219489195A>GCA350708811ASIC4-AS1,SPEGc.8291A>G (p.Glu2764Gly)
n.7534A>G
c.8009A>G (p.Glu2670Gly)
c.5915A>G (p.Glu1972Gly)
c.5744A>G (p.Glu1915Gly)
c.5930A>G (p.Glu1977Gly)
c.7979A>G (p.Glu2660Gly)
c.8321A>G (p.Glu2774Gly)
c.8153A>G (p.Glu2718Gly)
c.8144A>G (p.Glu2715Gly)
c.8138A>G (p.Glu2713Gly)
c.8060A>G (p.Glu2687Gly)
c.7976A>G (p.Glu2659Gly)
n.353-6786T>C
c.8039A>G (p.Glu2680Gly)
c.3299A>G (p.Glu1100Gly)
n.392-6786T>C
2g.219489195A>TCA350708812ASIC4-AS1,SPEGc.8291A>T (p.Glu2764Val)
n.7534A>T
c.8009A>T (p.Glu2670Val)
c.5915A>T (p.Glu1972Val)
c.5744A>T (p.Glu1915Val)
c.5930A>T (p.Glu1977Val)
c.7979A>T (p.Glu2660Val)
c.8321A>T (p.Glu2774Val)
c.8153A>T (p.Glu2718Val)
c.8144A>T (p.Glu2715Val)
c.8138A>T (p.Glu2713Val)
c.8060A>T (p.Glu2687Val)
c.7976A>T (p.Glu2659Val)
n.353-6786T>A
c.8039A>T (p.Glu2680Val)
c.3299A>T (p.Glu1100Val)
n.392-6786T>A
2g.219489197_219489199delCA2663271136ASIC4-AS1,SPEGc.8293_8295del (p.Lys2765del)
n.7536_7538del
c.8011_8013del (p.Lys2671del)
c.5917_5919del (p.Lys1973del)
c.5746_5748del (p.Lys1916del)
c.5932_5934del (p.Lys1978del)
c.7981_7983del (p.Lys2661del)
c.8323_8325del (p.Lys2775del)
c.8155_8157del (p.Lys2719del)
c.8146_8148del (p.Lys2716del)
c.8140_8142del (p.Lys2714del)
c.8062_8064del (p.Lys2688del)
c.7978_7980del (p.Lys2660del)
n.353-6788_353-6786del
c.8041_8043del (p.Lys2681del)
c.3301_3303del (p.Lys1101del)
n.392-6788_392-6786del
 gnomAD v4
2g.219489196G>ACA431431476ASIC4-AS1,SPEGc.8292G>A (p.Glu2764=)
n.7535G>A
c.8010G>A (p.Glu2670=)
c.5916G>A (p.Glu1972=)
c.5745G>A (p.Glu1915=)
c.5931G>A (p.Glu1977=)
c.7980G>A (p.Glu2660=)
c.8322G>A (p.Glu2774=)
c.8154G>A (p.Glu2718=)
c.8145G>A (p.Glu2715=)
c.8139G>A (p.Glu2713=)
c.8061G>A (p.Glu2687=)
c.7977G>A (p.Glu2659=)
n.353-6787C>T
c.8040G>A (p.Glu2680=)
c.3300G>A (p.Glu1100=)
n.392-6787C>T
2g.219489196G>CCA350708813ASIC4-AS1,SPEGc.8292G>C (p.Glu2764Asp)
n.7535G>C
c.8010G>C (p.Glu2670Asp)
c.5916G>C (p.Glu1972Asp)
c.5745G>C (p.Glu1915Asp)
c.5931G>C (p.Glu1977Asp)
c.7980G>C (p.Glu2660Asp)
c.8322G>C (p.Glu2774Asp)
c.8154G>C (p.Glu2718Asp)
c.8145G>C (p.Glu2715Asp)
c.8139G>C (p.Glu2713Asp)
c.8061G>C (p.Glu2687Asp)
c.7977G>C (p.Glu2659Asp)
n.353-6787C>G
c.8040G>C (p.Glu2680Asp)
c.3300G>C (p.Glu1100Asp)
n.392-6787C>G
2g.219489196G>TCA350708814ASIC4-AS1,SPEGc.8292G>T (p.Glu2764Asp)
n.7535G>T
c.8010G>T (p.Glu2670Asp)
c.5916G>T (p.Glu1972Asp)
c.5745G>T (p.Glu1915Asp)
c.5931G>T (p.Glu1977Asp)
c.7980G>T (p.Glu2660Asp)
c.8322G>T (p.Glu2774Asp)
c.8154G>T (p.Glu2718Asp)
c.8145G>T (p.Glu2715Asp)
c.8139G>T (p.Glu2713Asp)
c.8061G>T (p.Glu2687Asp)
c.7977G>T (p.Glu2659Asp)
n.353-6787C>A
c.8040G>T (p.Glu2680Asp)
c.3300G>T (p.Glu1100Asp)
n.392-6787C>A
2g.219489197A>CCA350708815ASIC4-AS1,SPEGc.8293A>C (p.Lys2765Gln)
n.7536A>C
c.8011A>C (p.Lys2671Gln)
c.5917A>C (p.Lys1973Gln)
c.5746A>C (p.Lys1916Gln)
c.5932A>C (p.Lys1978Gln)
c.7981A>C (p.Lys2661Gln)
c.8323A>C (p.Lys2775Gln)
c.8155A>C (p.Lys2719Gln)
c.8146A>C (p.Lys2716Gln)
c.8140A>C (p.Lys2714Gln)
c.8062A>C (p.Lys2688Gln)
c.7978A>C (p.Lys2660Gln)
n.353-6788T>G
c.8041A>C (p.Lys2681Gln)
c.3301A>C (p.Lys1101Gln)
n.392-6788T>G
2g.219489197A>GCA350708816ASIC4-AS1,SPEGc.8293A>G (p.Lys2765Glu)
n.7536A>G
c.8011A>G (p.Lys2671Glu)
c.5917A>G (p.Lys1973Glu)
c.5746A>G (p.Lys1916Glu)
c.5932A>G (p.Lys1978Glu)
c.7981A>G (p.Lys2661Glu)
c.8323A>G (p.Lys2775Glu)
c.8155A>G (p.Lys2719Glu)
c.8146A>G (p.Lys2716Glu)
c.8140A>G (p.Lys2714Glu)
c.8062A>G (p.Lys2688Glu)
c.7978A>G (p.Lys2660Glu)
n.353-6788T>C
c.8041A>G (p.Lys2681Glu)
c.3301A>G (p.Lys1101Glu)
n.392-6788T>C
2g.219489197A>TCA350708817ASIC4-AS1,SPEGc.8293A>T (p.Lys2765Ter)
n.7536A>T
c.8011A>T (p.Lys2671Ter)
c.5917A>T (p.Lys1973Ter)
c.5746A>T (p.Lys1916Ter)
c.5932A>T (p.Lys1978Ter)
c.7981A>T (p.Lys2661Ter)
c.8323A>T (p.Lys2775Ter)
c.8155A>T (p.Lys2719Ter)
c.8146A>T (p.Lys2716Ter)
c.8140A>T (p.Lys2714Ter)
c.8062A>T (p.Lys2688Ter)
c.7978A>T (p.Lys2660Ter)
n.353-6788T>A
c.8041A>T (p.Lys2681Ter)
c.3301A>T (p.Lys1101Ter)
n.392-6788T>A
2g.219489198A>CCA350708818ASIC4-AS1,SPEGc.8294A>C (p.Lys2765Thr)
n.7537A>C
c.8012A>C (p.Lys2671Thr)
c.5918A>C (p.Lys1973Thr)
c.5747A>C (p.Lys1916Thr)
c.5933A>C (p.Lys1978Thr)
c.7982A>C (p.Lys2661Thr)
c.8324A>C (p.Lys2775Thr)
c.8156A>C (p.Lys2719Thr)
c.8147A>C (p.Lys2716Thr)
c.8141A>C (p.Lys2714Thr)
c.8063A>C (p.Lys2688Thr)
c.7979A>C (p.Lys2660Thr)
n.353-6789T>G
c.8042A>C (p.Lys2681Thr)
c.3302A>C (p.Lys1101Thr)
n.392-6789T>G
2g.219489198A>GCA350708819ASIC4-AS1,SPEGc.8294A>G (p.Lys2765Arg)
n.7537A>G
c.8012A>G (p.Lys2671Arg)
c.5918A>G (p.Lys1973Arg)
c.5747A>G (p.Lys1916Arg)
c.5933A>G (p.Lys1978Arg)
c.7982A>G (p.Lys2661Arg)
c.8324A>G (p.Lys2775Arg)
c.8156A>G (p.Lys2719Arg)
c.8147A>G (p.Lys2716Arg)
c.8141A>G (p.Lys2714Arg)
c.8063A>G (p.Lys2688Arg)
c.7979A>G (p.Lys2660Arg)
n.353-6789T>C
c.8042A>G (p.Lys2681Arg)
c.3302A>G (p.Lys1101Arg)
n.392-6789T>C
2g.219489198A>TCA350708820ASIC4-AS1,SPEGc.8294A>T (p.Lys2765Met)
n.7537A>T
c.8012A>T (p.Lys2671Met)
c.5918A>T (p.Lys1973Met)
c.5747A>T (p.Lys1916Met)
c.5933A>T (p.Lys1978Met)
c.7982A>T (p.Lys2661Met)
c.8324A>T (p.Lys2775Met)
c.8156A>T (p.Lys2719Met)
c.8147A>T (p.Lys2716Met)
c.8141A>T (p.Lys2714Met)
c.8063A>T (p.Lys2688Met)
c.7979A>T (p.Lys2660Met)
n.353-6789T>A
c.8042A>T (p.Lys2681Met)
c.3302A>T (p.Lys1101Met)
n.392-6789T>A
2g.219489199G>ACA431431485ASIC4-AS1,SPEGc.8295G>A (p.Lys2765=)
n.7538G>A
c.8013G>A (p.Lys2671=)
c.5919G>A (p.Lys1973=)
c.5748G>A (p.Lys1916=)
c.5934G>A (p.Lys1978=)
c.7983G>A (p.Lys2661=)
c.8325G>A (p.Lys2775=)
c.8157G>A (p.Lys2719=)
c.8148G>A (p.Lys2716=)
c.8142G>A (p.Lys2714=)
c.8064G>A (p.Lys2688=)
c.7980G>A (p.Lys2660=)
n.353-6790C>T
c.8043G>A (p.Lys2681=)
c.3303G>A (p.Lys1101=)
n.392-6790C>T
2g.219489199G>CCA350708822ASIC4-AS1,SPEGc.8295G>C (p.Lys2765Asn)
n.7538G>C
c.8013G>C (p.Lys2671Asn)
c.5919G>C (p.Lys1973Asn)
c.5748G>C (p.Lys1916Asn)
c.5934G>C (p.Lys1978Asn)
c.7983G>C (p.Lys2661Asn)
c.8325G>C (p.Lys2775Asn)
c.8157G>C (p.Lys2719Asn)
c.8148G>C (p.Lys2716Asn)
c.8142G>C (p.Lys2714Asn)
c.8064G>C (p.Lys2688Asn)
c.7980G>C (p.Lys2660Asn)
n.353-6790C>G
c.8043G>C (p.Lys2681Asn)
c.3303G>C (p.Lys1101Asn)
n.392-6790C>G
2g.219489199G>TCA350708821ASIC4-AS1,SPEGc.8295G>T (p.Lys2765Asn)
n.7538G>T
c.8013G>T (p.Lys2671Asn)
c.5919G>T (p.Lys1973Asn)
c.5748G>T (p.Lys1916Asn)
c.5934G>T (p.Lys1978Asn)
c.7983G>T (p.Lys2661Asn)
c.8325G>T (p.Lys2775Asn)
c.8157G>T (p.Lys2719Asn)
c.8148G>T (p.Lys2716Asn)
c.8142G>T (p.Lys2714Asn)
c.8064G>T (p.Lys2688Asn)
c.7980G>T (p.Lys2660Asn)
n.353-6790C>A
c.8043G>T (p.Lys2681Asn)
c.3303G>T (p.Lys1101Asn)
n.392-6790C>A
2g.219489200G>ACA350708823ASIC4-AS1,SPEGc.8296G>A (p.Val2766Ile)
n.7539G>A
c.8014G>A (p.Val2672Ile)
c.5920G>A (p.Val1974Ile)
c.5749G>A (p.Val1917Ile)
c.5935G>A (p.Val1979Ile)
c.7984G>A (p.Val2662Ile)
c.8326G>A (p.Val2776Ile)
c.8158G>A (p.Val2720Ile)
c.8149G>A (p.Val2717Ile)
c.8143G>A (p.Val2715Ile)
c.8065G>A (p.Val2689Ile)
c.7981G>A (p.Val2661Ile)
n.353-6791C>T
c.8044G>A (p.Val2682Ile)
c.3304G>A (p.Val1102Ile)
n.392-6791C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219489200G>CCA350708824ASIC4-AS1,SPEGc.8296G>C (p.Val2766Leu)
n.7539G>C
c.8014G>C (p.Val2672Leu)
c.5920G>C (p.Val1974Leu)
c.5749G>C (p.Val1917Leu)
c.5935G>C (p.Val1979Leu)
c.7984G>C (p.Val2662Leu)
c.8326G>C (p.Val2776Leu)
c.8158G>C (p.Val2720Leu)
c.8149G>C (p.Val2717Leu)
c.8143G>C (p.Val2715Leu)
c.8065G>C (p.Val2689Leu)
c.7981G>C (p.Val2661Leu)
n.353-6791C>G
c.8044G>C (p.Val2682Leu)
c.3304G>C (p.Val1102Leu)
n.392-6791C>G
2g.219489200G=CA1329242240ASIC4-AS1,SPEGc.8296G= (p.Val2766=)
n.7539G=
c.8014G= (p.Val2672=)
c.5920G= (p.Val1974=)
c.5749G= (p.Val1917=)
c.5935G= (p.Val1979=)
c.7984G= (p.Val2662=)
c.8326G= (p.Val2776=)
c.8158G= (p.Val2720=)
c.8149G= (p.Val2717=)
c.8143G= (p.Val2715=)
c.8065G= (p.Val2689=)
c.7981G= (p.Val2661=)
n.353-6791C=
c.8044G= (p.Val2682=)
c.3304G= (p.Val1102=)
n.392-6791C=
2g.219489200G>TCA350708825ASIC4-AS1,SPEGc.8296G>T (p.Val2766Phe)
n.7539G>T
c.8014G>T (p.Val2672Phe)
c.5920G>T (p.Val1974Phe)
c.5749G>T (p.Val1917Phe)
c.5935G>T (p.Val1979Phe)
c.7984G>T (p.Val2662Phe)
c.8326G>T (p.Val2776Phe)
c.8158G>T (p.Val2720Phe)
c.8149G>T (p.Val2717Phe)
c.8143G>T (p.Val2715Phe)
c.8065G>T (p.Val2689Phe)
c.7981G>T (p.Val2661Phe)
n.353-6791C>A
c.8044G>T (p.Val2682Phe)
c.3304G>T (p.Val1102Phe)
n.392-6791C>A
 ClinVar
2g.219489201T>ACA350708826ASIC4-AS1,SPEGc.8297T>A (p.Val2766Asp)
n.7540T>A
c.8015T>A (p.Val2672Asp)
c.5921T>A (p.Val1974Asp)
c.5750T>A (p.Val1917Asp)
c.5936T>A (p.Val1979Asp)
c.7985T>A (p.Val2662Asp)
c.8327T>A (p.Val2776Asp)
c.8159T>A (p.Val2720Asp)
c.8150T>A (p.Val2717Asp)
c.8144T>A (p.Val2715Asp)
c.8066T>A (p.Val2689Asp)
c.7982T>A (p.Val2661Asp)
n.353-6792A>T
c.8045T>A (p.Val2682Asp)
c.3305T>A (p.Val1102Asp)
n.392-6792A>T
2g.219489201T>CCA350708827ASIC4-AS1,SPEGc.8297T>C (p.Val2766Ala)
n.7540T>C
c.8015T>C (p.Val2672Ala)
c.5921T>C (p.Val1974Ala)
c.5750T>C (p.Val1917Ala)
c.5936T>C (p.Val1979Ala)
c.7985T>C (p.Val2662Ala)
c.8327T>C (p.Val2776Ala)
c.8159T>C (p.Val2720Ala)
c.8150T>C (p.Val2717Ala)
c.8144T>C (p.Val2715Ala)
c.8066T>C (p.Val2689Ala)
c.7982T>C (p.Val2661Ala)
n.353-6792A>G
c.8045T>C (p.Val2682Ala)
c.3305T>C (p.Val1102Ala)
n.392-6792A>G
2g.219489201T>GCA350708828ASIC4-AS1,SPEGc.8297T>G (p.Val2766Gly)
n.7540T>G
c.8015T>G (p.Val2672Gly)
c.5921T>G (p.Val1974Gly)
c.5750T>G (p.Val1917Gly)
c.5936T>G (p.Val1979Gly)
c.7985T>G (p.Val2662Gly)
c.8327T>G (p.Val2776Gly)
c.8159T>G (p.Val2720Gly)
c.8150T>G (p.Val2717Gly)
c.8144T>G (p.Val2715Gly)
c.8066T>G (p.Val2689Gly)
c.7982T>G (p.Val2661Gly)
n.353-6792A>C
c.8045T>G (p.Val2682Gly)
c.3305T>G (p.Val1102Gly)
n.392-6792A>C
 gnomAD v4
2g.219489202C>ACA431431492ASIC4-AS1,SPEGc.8298C>A (p.Val2766=)
n.7541C>A
c.8016C>A (p.Val2672=)
c.5922C>A (p.Val1974=)
c.5751C>A (p.Val1917=)
c.5937C>A (p.Val1979=)
c.7986C>A (p.Val2662=)
c.8328C>A (p.Val2776=)
c.8160C>A (p.Val2720=)
c.8151C>A (p.Val2717=)
c.8145C>A (p.Val2715=)
c.8067C>A (p.Val2689=)
c.7983C>A (p.Val2661=)
n.353-6793G>T
c.8046C>A (p.Val2682=)
c.3306C>A (p.Val1102=)
n.392-6793G>T
 gnomAD v4
2g.219489202C>GCA431431493ASIC4-AS1,SPEGc.8298C>G (p.Val2766=)
n.7541C>G
c.8016C>G (p.Val2672=)
c.5922C>G (p.Val1974=)
c.5751C>G (p.Val1917=)
c.5937C>G (p.Val1979=)
c.7986C>G (p.Val2662=)
c.8328C>G (p.Val2776=)
c.8160C>G (p.Val2720=)
c.8151C>G (p.Val2717=)
c.8145C>G (p.Val2715=)
c.8067C>G (p.Val2689=)
c.7983C>G (p.Val2661=)
n.353-6793G>C
c.8046C>G (p.Val2682=)
c.3306C>G (p.Val1102=)
n.392-6793G>C
2g.219489202C>TCA431431494ASIC4-AS1,SPEGc.8298C>T (p.Val2766=)
n.7541C>T
c.8016C>T (p.Val2672=)
c.5922C>T (p.Val1974=)
c.5751C>T (p.Val1917=)
c.5937C>T (p.Val1979=)
c.7986C>T (p.Val2662=)
c.8328C>T (p.Val2776=)
c.8160C>T (p.Val2720=)
c.8151C>T (p.Val2717=)
c.8145C>T (p.Val2715=)
c.8067C>T (p.Val2689=)
c.7983C>T (p.Val2661=)
n.353-6793G>A
c.8046C>T (p.Val2682=)
c.3306C>T (p.Val1102=)
n.392-6793G>A
2g.219489203T>ACA350708831ASIC4-AS1,SPEGc.8299T>A (p.Phe2767Ile)
n.7542T>A
c.8017T>A (p.Phe2673Ile)
c.5923T>A (p.Phe1975Ile)
c.5752T>A (p.Phe1918Ile)
c.5938T>A (p.Phe1980Ile)
c.7987T>A (p.Phe2663Ile)
c.8329T>A (p.Phe2777Ile)
c.8161T>A (p.Phe2721Ile)
c.8152T>A (p.Phe2718Ile)
c.8146T>A (p.Phe2716Ile)
c.8068T>A (p.Phe2690Ile)
c.7984T>A (p.Phe2662Ile)
n.353-6794A>T
c.8047T>A (p.Phe2683Ile)
c.3307T>A (p.Phe1103Ile)
n.392-6794A>T
2g.219489203T>CCA350708829ASIC4-AS1,SPEGc.8299T>C (p.Phe2767Leu)
n.7542T>C
c.8017T>C (p.Phe2673Leu)
c.5923T>C (p.Phe1975Leu)
c.5752T>C (p.Phe1918Leu)
c.5938T>C (p.Phe1980Leu)
c.7987T>C (p.Phe2663Leu)
c.8329T>C (p.Phe2777Leu)
c.8161T>C (p.Phe2721Leu)
c.8152T>C (p.Phe2718Leu)
c.8146T>C (p.Phe2716Leu)
c.8068T>C (p.Phe2690Leu)
c.7984T>C (p.Phe2662Leu)
n.353-6794A>G
c.8047T>C (p.Phe2683Leu)
c.3307T>C (p.Phe1103Leu)
n.392-6794A>G
2g.219489203T>GCA350708830ASIC4-AS1,SPEGc.8299T>G (p.Phe2767Val)
n.7542T>G
c.8017T>G (p.Phe2673Val)
c.5923T>G (p.Phe1975Val)
c.5752T>G (p.Phe1918Val)
c.5938T>G (p.Phe1980Val)
c.7987T>G (p.Phe2663Val)
c.8329T>G (p.Phe2777Val)
c.8161T>G (p.Phe2721Val)
c.8152T>G (p.Phe2718Val)
c.8146T>G (p.Phe2716Val)
c.8068T>G (p.Phe2690Val)
c.7984T>G (p.Phe2662Val)
n.353-6794A>C
c.8047T>G (p.Phe2683Val)
c.3307T>G (p.Phe1103Val)
n.392-6794A>C
2g.219489204T>ACA350708832ASIC4-AS1,SPEGc.8300T>A (p.Phe2767Tyr)
n.7543T>A
c.8018T>A (p.Phe2673Tyr)
c.5924T>A (p.Phe1975Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5939T>A (p.Phe1980Tyr)
c.7988T>A (p.Phe2663Tyr)
c.8330T>A (p.Phe2777Tyr)
c.8162T>A (p.Phe2721Tyr)
c.8153T>A (p.Phe2718Tyr)
c.8147T>A (p.Phe2716Tyr)
c.8069T>A (p.Phe2690Tyr)
c.7985T>A (p.Phe2662Tyr)
n.353-6795A>T
c.8048T>A (p.Phe2683Tyr)
c.3308T>A (p.Phe1103Tyr)
n.392-6795A>T
2g.219489204T>CCA350708833ASIC4-AS1,SPEGc.8300T>C (p.Phe2767Ser)
n.7543T>C
c.8018T>C (p.Phe2673Ser)
c.5924T>C (p.Phe1975Ser)
c.5753T>C (p.Phe1918Ser)
c.5939T>C (p.Phe1980Ser)
c.7988T>C (p.Phe2663Ser)
c.8330T>C (p.Phe2777Ser)
c.8162T>C (p.Phe2721Ser)
c.8153T>C (p.Phe2718Ser)
c.8147T>C (p.Phe2716Ser)
c.8069T>C (p.Phe2690Ser)
c.7985T>C (p.Phe2662Ser)
n.353-6795A>G
c.8048T>C (p.Phe2683Ser)
c.3308T>C (p.Phe1103Ser)
n.392-6795A>G
2g.219489204T>GCA350708834ASIC4-AS1,SPEGc.8300T>G (p.Phe2767Cys)
n.7543T>G
c.8018T>G (p.Phe2673Cys)
c.5924T>G (p.Phe1975Cys)
c.5753T>G (p.Phe1918Cys)
c.5939T>G (p.Phe1980Cys)
c.7988T>G (p.Phe2663Cys)
c.8330T>G (p.Phe2777Cys)
c.8162T>G (p.Phe2721Cys)
c.8153T>G (p.Phe2718Cys)
c.8147T>G (p.Phe2716Cys)
c.8069T>G (p.Phe2690Cys)
c.7985T>G (p.Phe2662Cys)
n.353-6795A>C
c.8048T>G (p.Phe2683Cys)
c.3308T>G (p.Phe1103Cys)
n.392-6795A>C
2g.219489205T>ACA350708835ASIC4-AS1,SPEGc.8301T>A (p.Phe2767Leu)
n.7544T>A
c.8019T>A (p.Phe2673Leu)
c.5925T>A (p.Phe1975Leu)
c.5754T>A (p.Phe1918Leu)
c.5940T>A (p.Phe1980Leu)
c.7989T>A (p.Phe2663Leu)
c.8331T>A (p.Phe2777Leu)
c.8163T>A (p.Phe2721Leu)
c.8154T>A (p.Phe2718Leu)
c.8148T>A (p.Phe2716Leu)
c.8070T>A (p.Phe2690Leu)
c.7986T>A (p.Phe2662Leu)
n.353-6796A>T
c.8049T>A (p.Phe2683Leu)
c.3309T>A (p.Phe1103Leu)
n.392-6796A>T
2g.219489205T>CCA431431498ASIC4-AS1,SPEGc.8301T>C (p.Phe2767=)
n.7544T>C
c.8019T>C (p.Phe2673=)
c.5925T>C (p.Phe1975=)
c.5754T>C (p.Phe1918=)
c.5940T>C (p.Phe1980=)
c.7989T>C (p.Phe2663=)
c.8331T>C (p.Phe2777=)
c.8163T>C (p.Phe2721=)
c.8154T>C (p.Phe2718=)
c.8148T>C (p.Phe2716=)
c.8070T>C (p.Phe2690=)
c.7986T>C (p.Phe2662=)
n.353-6796A>G
c.8049T>C (p.Phe2683=)
c.3309T>C (p.Phe1103=)
n.392-6796A>G
2g.219489205T>GCA350708836ASIC4-AS1,SPEGc.8301T>G (p.Phe2767Leu)
n.7544T>G
c.8019T>G (p.Phe2673Leu)
c.5925T>G (p.Phe1975Leu)
c.5754T>G (p.Phe1918Leu)
c.5940T>G (p.Phe1980Leu)
c.7989T>G (p.Phe2663Leu)
c.8331T>G (p.Phe2777Leu)
c.8163T>G (p.Phe2721Leu)
c.8154T>G (p.Phe2718Leu)
c.8148T>G (p.Phe2716Leu)
c.8070T>G (p.Phe2690Leu)
c.7986T>G (p.Phe2662Leu)
n.353-6796A>C
c.8049T>G (p.Phe2683Leu)
c.3309T>G (p.Phe1103Leu)
n.392-6796A>C
2g.219489206G>ACA350708837ASIC4-AS1,SPEGc.8302G>A (p.Val2768Ile)
n.7545G>A
c.8020G>A (p.Val2674Ile)
c.5926G>A (p.Val1976Ile)
c.5755G>A (p.Val1919Ile)
c.5941G>A (p.Val1981Ile)
c.7990G>A (p.Val2664Ile)
c.8332G>A (p.Val2778Ile)
c.8164G>A (p.Val2722Ile)
c.8155G>A (p.Val2719Ile)
c.8149G>A (p.Val2717Ile)
c.8071G>A (p.Val2691Ile)
c.7987G>A (p.Val2663Ile)
n.353-6797C>T
c.8050G>A (p.Val2684Ile)
c.3310G>A (p.Val1104Ile)
n.392-6797C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219489206G>CCA350708839ASIC4-AS1,SPEGc.8302G>C (p.Val2768Leu)
n.7545G>C
c.8020G>C (p.Val2674Leu)
c.5926G>C (p.Val1976Leu)
c.5755G>C (p.Val1919Leu)
c.5941G>C (p.Val1981Leu)
c.7990G>C (p.Val2664Leu)
c.8332G>C (p.Val2778Leu)
c.8164G>C (p.Val2722Leu)
c.8155G>C (p.Val2719Leu)
c.8149G>C (p.Val2717Leu)
c.8071G>C (p.Val2691Leu)
c.7987G>C (p.Val2663Leu)
n.353-6797C>G
c.8050G>C (p.Val2684Leu)
c.3310G>C (p.Val1104Leu)
n.392-6797C>G
2g.219489206G=CA1329242241ASIC4-AS1,SPEGc.8302G= (p.Val2768=)
n.7545G=
c.8020G= (p.Val2674=)
c.5926G= (p.Val1976=)
c.5755G= (p.Val1919=)
c.5941G= (p.Val1981=)
c.7990G= (p.Val2664=)
c.8332G= (p.Val2778=)
c.8164G= (p.Val2722=)
c.8155G= (p.Val2719=)
c.8149G= (p.Val2717=)
c.8071G= (p.Val2691=)
c.7987G= (p.Val2663=)
n.353-6797C=
c.8050G= (p.Val2684=)
c.3310G= (p.Val1104=)
n.392-6797C=
2g.219489206G>TCA350708838ASIC4-AS1,SPEGc.8302G>T (p.Val2768Phe)
n.7545G>T
c.8020G>T (p.Val2674Phe)
c.5926G>T (p.Val1976Phe)
c.5755G>T (p.Val1919Phe)
c.5941G>T (p.Val1981Phe)
c.7990G>T (p.Val2664Phe)
c.8332G>T (p.Val2778Phe)
c.8164G>T (p.Val2722Phe)
c.8155G>T (p.Val2719Phe)
c.8149G>T (p.Val2717Phe)
c.8071G>T (p.Val2691Phe)
c.7987G>T (p.Val2663Phe)
n.353-6797C>A
c.8050G>T (p.Val2684Phe)
c.3310G>T (p.Val1104Phe)
n.392-6797C>A
2g.219489207T>ACA350708840ASIC4-AS1,SPEGc.8303T>A (p.Val2768Asp)
n.7546T>A
c.8021T>A (p.Val2674Asp)
c.5927T>A (p.Val1976Asp)
c.5756T>A (p.Val1919Asp)
c.5942T>A (p.Val1981Asp)
c.7991T>A (p.Val2664Asp)
c.8333T>A (p.Val2778Asp)
c.8165T>A (p.Val2722Asp)
c.8156T>A (p.Val2719Asp)
c.8150T>A (p.Val2717Asp)
c.8072T>A (p.Val2691Asp)
c.7988T>A (p.Val2663Asp)
n.353-6798A>T
c.8051T>A (p.Val2684Asp)
c.3311T>A (p.Val1104Asp)
n.392-6798A>T
2g.219489207T>CCA350708841ASIC4-AS1,SPEGc.8303T>C (p.Val2768Ala)
n.7546T>C
c.8021T>C (p.Val2674Ala)
c.5927T>C (p.Val1976Ala)
c.5756T>C (p.Val1919Ala)
c.5942T>C (p.Val1981Ala)
c.7991T>C (p.Val2664Ala)
c.8333T>C (p.Val2778Ala)
c.8165T>C (p.Val2722Ala)
c.8156T>C (p.Val2719Ala)
c.8150T>C (p.Val2717Ala)
c.8072T>C (p.Val2691Ala)
c.7988T>C (p.Val2663Ala)
n.353-6798A>G
c.8051T>C (p.Val2684Ala)
c.3311T>C (p.Val1104Ala)
n.392-6798A>G
2g.219489207T>GCA350708842ASIC4-AS1,SPEGc.8303T>G (p.Val2768Gly)
n.7546T>G
c.8021T>G (p.Val2674Gly)
c.5927T>G (p.Val1976Gly)
c.5756T>G (p.Val1919Gly)
c.5942T>G (p.Val1981Gly)
c.7991T>G (p.Val2664Gly)
c.8333T>G (p.Val2778Gly)
c.8165T>G (p.Val2722Gly)
c.8156T>G (p.Val2719Gly)
c.8150T>G (p.Val2717Gly)
c.8072T>G (p.Val2691Gly)
c.7988T>G (p.Val2663Gly)
n.353-6798A>C
c.8051T>G (p.Val2684Gly)
c.3311T>G (p.Val1104Gly)
n.392-6798A>C
2g.219489208C>ACA431431500ASIC4-AS1,SPEGc.8304C>A (p.Val2768=)
n.7547C>A
c.8022C>A (p.Val2674=)
c.5928C>A (p.Val1976=)
c.5757C>A (p.Val1919=)
c.5943C>A (p.Val1981=)
c.7992C>A (p.Val2664=)
c.8334C>A (p.Val2778=)
c.8166C>A (p.Val2722=)
c.8157C>A (p.Val2719=)
c.8151C>A (p.Val2717=)
c.8073C>A (p.Val2691=)
c.7989C>A (p.Val2663=)
n.353-6799G>T
c.8052C>A (p.Val2684=)
c.3312C>A (p.Val1104=)
n.392-6799G>T
2g.219489208C>GCA431431502ASIC4-AS1,SPEGc.8304C>G (p.Val2768=)
n.7547C>G
c.8022C>G (p.Val2674=)
c.5928C>G (p.Val1976=)
c.5757C>G (p.Val1919=)
c.5943C>G (p.Val1981=)
c.7992C>G (p.Val2664=)
c.8334C>G (p.Val2778=)
c.8166C>G (p.Val2722=)
c.8157C>G (p.Val2719=)
c.8151C>G (p.Val2717=)
c.8073C>G (p.Val2691=)
c.7989C>G (p.Val2663=)
n.353-6799G>C
c.8052C>G (p.Val2684=)
c.3312C>G (p.Val1104=)
n.392-6799G>C
2g.219489208C>TCA431431504ASIC4-AS1,SPEGc.8304C>T (p.Val2768=)
n.7547C>T
c.8022C>T (p.Val2674=)
c.5928C>T (p.Val1976=)
c.5757C>T (p.Val1919=)
c.5943C>T (p.Val1981=)
c.7992C>T (p.Val2664=)
c.8334C>T (p.Val2778=)
c.8166C>T (p.Val2722=)
c.8157C>T (p.Val2719=)
c.8151C>T (p.Val2717=)
c.8073C>T (p.Val2691=)
c.7989C>T (p.Val2663=)
n.353-6799G>A
c.8052C>T (p.Val2684=)
c.3312C>T (p.Val1104=)
n.392-6799G>A
 gnomAD v4
2g.219489208_219489209delinsCACA1329242242ASIC4-AS1,SPEGc.8304_8305delinsCA (p.Val2768=)
n.7547_7548delinsCA
c.8022_8023delinsCA (p.Val2674=)
c.5928_5929delinsCA (p.Val1976=)
c.5757_5758delinsCA (p.Val1919=)
c.5943_5944delinsCA (p.Val1981=)
c.7992_7993delinsCA (p.Val2664=)
c.8334_8335delinsCA (p.Val2778=)
c.8166_8167delinsCA (p.Val2722=)
c.8157_8158delinsCA (p.Val2719=)
c.8151_8152delinsCA (p.Val2717=)
c.8073_8074delinsCA (p.Val2691=)
c.7989_7990delinsCA (p.Val2663=)
n.353-6800_353-6799delinsTG
c.8052_8053delinsCA (p.Val2684=)
c.3312_3313delinsCA (p.Val1104=)
n.392-6800_392-6799delinsTG
2g.219489209delCA658796179ASIC4-AS1,SPEGc.8305del (p.Arg2769GlyfsTer?)
n.7548del
c.8023del (p.Arg2675GlyfsTer?)
c.5929del (p.Arg1977GlyfsTer?)
c.5758del (p.Arg1920GlyfsTer?)
c.5944del (p.Arg1982GlyfsTer?)
c.7993del (p.Arg2665GlyfsTer?)
c.8335del (p.Arg2779GlyfsTer?)
c.8167del (p.Arg2723GlyfsTer?)
c.8158del (p.Arg2720GlyfsTer?)
c.8152del (p.Arg2718GlyfsTer?)
c.8074del (p.Arg2692GlyfsTer?)
c.7990del (p.Arg2664GlyfsTer?)
n.353-6800del
c.8053del (p.Arg2685GlyfsTer?)
c.3313del (p.Arg1105GlyfsTer?)
n.392-6800del
 ClinVar dbSNP
2g.219489209A>CCA431431506ASIC4-AS1,SPEGc.8305A>C (p.Arg2769=)
n.7548A>C
c.8023A>C (p.Arg2675=)
c.5929A>C (p.Arg1977=)
c.5758A>C (p.Arg1920=)
c.5944A>C (p.Arg1982=)
c.7993A>C (p.Arg2665=)
c.8335A>C (p.Arg2779=)
c.8167A>C (p.Arg2723=)
c.8158A>C (p.Arg2720=)
c.8152A>C (p.Arg2718=)
c.8074A>C (p.Arg2692=)
c.7990A>C (p.Arg2664=)
n.353-6800T>G
c.8053A>C (p.Arg2685=)
c.3313A>C (p.Arg1105=)
n.392-6800T>G
2g.219489209A>GCA350708843ASIC4-AS1,SPEGc.8305A>G (p.Arg2769Gly)
n.7548A>G
c.8023A>G (p.Arg2675Gly)
c.5929A>G (p.Arg1977Gly)
c.5758A>G (p.Arg1920Gly)
c.5944A>G (p.Arg1982Gly)
c.7993A>G (p.Arg2665Gly)
c.8335A>G (p.Arg2779Gly)
c.8167A>G (p.Arg2723Gly)
c.8158A>G (p.Arg2720Gly)
c.8152A>G (p.Arg2718Gly)
c.8074A>G (p.Arg2692Gly)
c.7990A>G (p.Arg2664Gly)
n.353-6800T>C
c.8053A>G (p.Arg2685Gly)
c.3313A>G (p.Arg1105Gly)
n.392-6800T>C
2g.219489209A>TCA350708844ASIC4-AS1,SPEGc.8305A>T (p.Arg2769Trp)
n.7548A>T
c.8023A>T (p.Arg2675Trp)
c.5929A>T (p.Arg1977Trp)
c.5758A>T (p.Arg1920Trp)
c.5944A>T (p.Arg1982Trp)
c.7993A>T (p.Arg2665Trp)
c.8335A>T (p.Arg2779Trp)
c.8167A>T (p.Arg2723Trp)
c.8158A>T (p.Arg2720Trp)
c.8152A>T (p.Arg2718Trp)
c.8074A>T (p.Arg2692Trp)
c.7990A>T (p.Arg2664Trp)
n.353-6800T>A
c.8053A>T (p.Arg2685Trp)
c.3313A>T (p.Arg1105Trp)
n.392-6800T>A
2g.219489210G>ACA350708845ASIC4-AS1,SPEGc.8306G>A (p.Arg2769Lys)
n.7549G>A
c.8024G>A (p.Arg2675Lys)
c.5930G>A (p.Arg1977Lys)
c.5759G>A (p.Arg1920Lys)
c.5945G>A (p.Arg1982Lys)
c.7994G>A (p.Arg2665Lys)
c.8336G>A (p.Arg2779Lys)
c.8168G>A (p.Arg2723Lys)
c.8159G>A (p.Arg2720Lys)
c.8153G>A (p.Arg2718Lys)
c.8075G>A (p.Arg2692Lys)
c.7991G>A (p.Arg2664Lys)
n.353-6801C>T
c.8054G>A (p.Arg2685Lys)
c.3314G>A (p.Arg1105Lys)
n.392-6801C>T
2g.219489210G>CCA350708846ASIC4-AS1,SPEGc.8306G>C (p.Arg2769Thr)
n.7549G>C
c.8024G>C (p.Arg2675Thr)
c.5930G>C (p.Arg1977Thr)
c.5759G>C (p.Arg1920Thr)
c.5945G>C (p.Arg1982Thr)
c.7994G>C (p.Arg2665Thr)
c.8336G>C (p.Arg2779Thr)
c.8168G>C (p.Arg2723Thr)
c.8159G>C (p.Arg2720Thr)
c.8153G>C (p.Arg2718Thr)
c.8075G>C (p.Arg2692Thr)
c.7991G>C (p.Arg2664Thr)
n.353-6801C>G
c.8054G>C (p.Arg2685Thr)
c.3314G>C (p.Arg1105Thr)
n.392-6801C>G
2g.219489210G>TCA350708847ASIC4-AS1,SPEGc.8306G>T (p.Arg2769Met)
n.7549G>T
c.8024G>T (p.Arg2675Met)
c.5930G>T (p.Arg1977Met)
c.5759G>T (p.Arg1920Met)
c.5945G>T (p.Arg1982Met)
c.7994G>T (p.Arg2665Met)
c.8336G>T (p.Arg2779Met)
c.8168G>T (p.Arg2723Met)
c.8159G>T (p.Arg2720Met)
c.8153G>T (p.Arg2718Met)
c.8075G>T (p.Arg2692Met)
c.7991G>T (p.Arg2664Met)
n.353-6801C>A
c.8054G>T (p.Arg2685Met)
c.3314G>T (p.Arg1105Met)
n.392-6801C>A
2g.219489211G>ACA431431508ASIC4-AS1,SPEGc.8307G>A (p.Arg2769=)
n.7550G>A
c.8025G>A (p.Arg2675=)
c.5931G>A (p.Arg1977=)
c.5760G>A (p.Arg1920=)
c.5946G>A (p.Arg1982=)
c.7995G>A (p.Arg2665=)
c.8337G>A (p.Arg2779=)
c.8169G>A (p.Arg2723=)
c.8160G>A (p.Arg2720=)
c.8154G>A (p.Arg2718=)
c.8076G>A (p.Arg2692=)
c.7992G>A (p.Arg2664=)
n.353-6802C>T
c.8055G>A (p.Arg2685=)
c.3315G>A (p.Arg1105=)
n.392-6802C>T
2g.219489211G>CCA350708848ASIC4-AS1,SPEGc.8307G>C (p.Arg2769Ser)
n.7550G>C
c.8025G>C (p.Arg2675Ser)
c.5931G>C (p.Arg1977Ser)
c.5760G>C (p.Arg1920Ser)
c.5946G>C (p.Arg1982Ser)
c.7995G>C (p.Arg2665Ser)
c.8337G>C (p.Arg2779Ser)
c.8169G>C (p.Arg2723Ser)
c.8160G>C (p.Arg2720Ser)
c.8154G>C (p.Arg2718Ser)
c.8076G>C (p.Arg2692Ser)
c.7992G>C (p.Arg2664Ser)
n.353-6802C>G
c.8055G>C (p.Arg2685Ser)
c.3315G>C (p.Arg1105Ser)
n.392-6802C>G
2g.219489211G>TCA350708849ASIC4-AS1,SPEGc.8307G>T (p.Arg2769Ser)
n.7550G>T
c.8025G>T (p.Arg2675Ser)
c.5931G>T (p.Arg1977Ser)
c.5760G>T (p.Arg1920Ser)
c.5946G>T (p.Arg1982Ser)
c.7995G>T (p.Arg2665Ser)
c.8337G>T (p.Arg2779Ser)
c.8169G>T (p.Arg2723Ser)
c.8160G>T (p.Arg2720Ser)
c.8154G>T (p.Arg2718Ser)
c.8076G>T (p.Arg2692Ser)
c.7992G>T (p.Arg2664Ser)
n.353-6802C>A
c.8055G>T (p.Arg2685Ser)
c.3315G>T (p.Arg1105Ser)
n.392-6802C>A
2g.219489212G>ACA350708852ASIC4-AS1,SPEGc.8308G>A (p.Gly2770Ser)
n.7551G>A
c.8026G>A (p.Gly2676Ser)
c.5932G>A (p.Gly1978Ser)
c.5761G>A (p.Gly1921Ser)
c.5947G>A (p.Gly1983Ser)
c.7996G>A (p.Gly2666Ser)
c.8338G>A (p.Gly2780Ser)
c.8170G>A (p.Gly2724Ser)
c.8161G>A (p.Gly2721Ser)
c.8155G>A (p.Gly2719Ser)
c.8077G>A (p.Gly2693Ser)
c.7993G>A (p.Gly2665Ser)
n.353-6803C>T
c.8056G>A (p.Gly2686Ser)
c.3316G>A (p.Gly1106Ser)
n.392-6803C>T
2g.219489212G>CCA350708851ASIC4-AS1,SPEGc.8308G>C (p.Gly2770Arg)
n.7551G>C
c.8026G>C (p.Gly2676Arg)
c.5932G>C (p.Gly1978Arg)
c.5761G>C (p.Gly1921Arg)
c.5947G>C (p.Gly1983Arg)
c.7996G>C (p.Gly2666Arg)
c.8338G>C (p.Gly2780Arg)
c.8170G>C (p.Gly2724Arg)
c.8161G>C (p.Gly2721Arg)
c.8155G>C (p.Gly2719Arg)
c.8077G>C (p.Gly2693Arg)
c.7993G>C (p.Gly2665Arg)
n.353-6803C>G
c.8056G>C (p.Gly2686Arg)
c.3316G>C (p.Gly1106Arg)
n.392-6803C>G
2g.219489212G>TCA350708850ASIC4-AS1,SPEGc.8308G>T (p.Gly2770Cys)
n.7551G>T
c.8026G>T (p.Gly2676Cys)
c.5932G>T (p.Gly1978Cys)
c.5761G>T (p.Gly1921Cys)
c.5947G>T (p.Gly1983Cys)
c.7996G>T (p.Gly2666Cys)
c.8338G>T (p.Gly2780Cys)
c.8170G>T (p.Gly2724Cys)
c.8161G>T (p.Gly2721Cys)
c.8155G>T (p.Gly2719Cys)
c.8077G>T (p.Gly2693Cys)
c.7993G>T (p.Gly2665Cys)
n.353-6803C>A
c.8056G>T (p.Gly2686Cys)
c.3316G>T (p.Gly1106Cys)
n.392-6803C>A
2g.219489215_219489223dupCA2754328269ASIC4-AS1,SPEGc.8311_8317+2dup
n.7554_7560+2dup
c.8029_8035+2dup
c.5935_5941+2dup
c.5764_5770+2dup
c.5950_5956+2dup
c.7999_8005+2dup
c.8341_8347+2dup
c.8173_8179+2dup
c.8164_8170+2dup
c.8158_8164+2dup
c.8080_8086+2dup
c.7996_8002+2dup
n.353-6811_353-6803dup
c.8059_8065+2dup
c.3319_3325+2dup
n.392-6811_392-6803dup
2g.219489213G>ACA2127442ASIC4-AS1,SPEGc.8309G>A (p.Gly2770Asp)
n.7552G>A
c.8027G>A (p.Gly2676Asp)
c.5933G>A (p.Gly1978Asp)
c.5762G>A (p.Gly1921Asp)
c.5948G>A (p.Gly1983Asp)
c.7997G>A (p.Gly2666Asp)
c.8339G>A (p.Gly2780Asp)
c.8171G>A (p.Gly2724Asp)
c.8162G>A (p.Gly2721Asp)
c.8156G>A (p.Gly2719Asp)
c.8078G>A (p.Gly2693Asp)
c.7994G>A (p.Gly2665Asp)
n.353-6804C>T
c.8057G>A (p.Gly2686Asp)
c.3317G>A (p.Gly1106Asp)
n.392-6804C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489213G>CCA350708854ASIC4-AS1,SPEGc.8309G>C (p.Gly2770Ala)
n.7552G>C
c.8027G>C (p.Gly2676Ala)
c.5933G>C (p.Gly1978Ala)
c.5762G>C (p.Gly1921Ala)
c.5948G>C (p.Gly1983Ala)
c.7997G>C (p.Gly2666Ala)
c.8339G>C (p.Gly2780Ala)
c.8171G>C (p.Gly2724Ala)
c.8162G>C (p.Gly2721Ala)
c.8156G>C (p.Gly2719Ala)
c.8078G>C (p.Gly2693Ala)
c.7994G>C (p.Gly2665Ala)
n.353-6804C>G
c.8057G>C (p.Gly2686Ala)
c.3317G>C (p.Gly1106Ala)
n.392-6804C>G
2g.219489213G=CA1329242243ASIC4-AS1,SPEGc.8309G= (p.Gly2770=)
n.7552G=
c.8027G= (p.Gly2676=)
c.5933G= (p.Gly1978=)
c.5762G= (p.Gly1921=)
c.5948G= (p.Gly1983=)
c.7997G= (p.Gly2666=)
c.8339G= (p.Gly2780=)
c.8171G= (p.Gly2724=)
c.8162G= (p.Gly2721=)
c.8156G= (p.Gly2719=)
c.8078G= (p.Gly2693=)
c.7994G= (p.Gly2665=)
n.353-6804C=
c.8057G= (p.Gly2686=)
c.3317G= (p.Gly1106=)
n.392-6804C=
2g.219489213G>TCA350708853ASIC4-AS1,SPEGc.8309G>T (p.Gly2770Val)
n.7552G>T
c.8027G>T (p.Gly2676Val)
c.5933G>T (p.Gly1978Val)
c.5762G>T (p.Gly1921Val)
c.5948G>T (p.Gly1983Val)
c.7997G>T (p.Gly2666Val)
c.8339G>T (p.Gly2780Val)
c.8171G>T (p.Gly2724Val)
c.8162G>T (p.Gly2721Val)
c.8156G>T (p.Gly2719Val)
c.8078G>T (p.Gly2693Val)
c.7994G>T (p.Gly2665Val)
n.353-6804C>A
c.8057G>T (p.Gly2686Val)
c.3317G>T (p.Gly1106Val)
n.392-6804C>A
 dbSNP gnomAD v3 gnomAD v4
2g.219489214T>ACA431431514ASIC4-AS1,SPEGc.8310T>A (p.Gly2770=)
n.7553T>A
c.8028T>A (p.Gly2676=)
c.5934T>A (p.Gly1978=)
c.5763T>A (p.Gly1921=)
c.5949T>A (p.Gly1983=)
c.7998T>A (p.Gly2666=)
c.8340T>A (p.Gly2780=)
c.8172T>A (p.Gly2724=)
c.8163T>A (p.Gly2721=)
c.8157T>A (p.Gly2719=)
c.8079T>A (p.Gly2693=)
c.7995T>A (p.Gly2665=)
n.353-6805A>T
c.8058T>A (p.Gly2686=)
c.3318T>A (p.Gly1106=)
n.392-6805A>T
2g.219489214T>CCA431431515ASIC4-AS1,SPEGc.8310T>C (p.Gly2770=)
n.7553T>C
c.8028T>C (p.Gly2676=)
c.5934T>C (p.Gly1978=)
c.5763T>C (p.Gly1921=)
c.5949T>C (p.Gly1983=)
c.7998T>C (p.Gly2666=)
c.8340T>C (p.Gly2780=)
c.8172T>C (p.Gly2724=)
c.8163T>C (p.Gly2721=)
c.8157T>C (p.Gly2719=)
c.8079T>C (p.Gly2693=)
c.7995T>C (p.Gly2665=)
n.353-6805A>G
c.8058T>C (p.Gly2686=)
c.3318T>C (p.Gly1106=)
n.392-6805A>G
2g.219489214T>GCA431431517ASIC4-AS1,SPEGc.8310T>G (p.Gly2770=)
n.7553T>G
c.8028T>G (p.Gly2676=)
c.5934T>G (p.Gly1978=)
c.5763T>G (p.Gly1921=)
c.5949T>G (p.Gly1983=)
c.7998T>G (p.Gly2666=)
c.8340T>G (p.Gly2780=)
c.8172T>G (p.Gly2724=)
c.8163T>G (p.Gly2721=)
c.8157T>G (p.Gly2719=)
c.8079T>G (p.Gly2693=)
c.7995T>G (p.Gly2665=)
n.353-6805A>C
c.8058T>G (p.Gly2686=)
c.3318T>G (p.Gly1106=)
n.392-6805A>C
2g.219489215A>CCA350708855ASIC4-AS1,SPEGc.8311A>C (p.Thr2771Pro)
n.7554A>C
c.8029A>C (p.Thr2677Pro)
c.5935A>C (p.Thr1979Pro)
c.5764A>C (p.Thr1922Pro)
c.5950A>C (p.Thr1984Pro)
c.7999A>C (p.Thr2667Pro)
c.8341A>C (p.Thr2781Pro)
c.8173A>C (p.Thr2725Pro)
c.8164A>C (p.Thr2722Pro)
c.8158A>C (p.Thr2720Pro)
c.8080A>C (p.Thr2694Pro)
c.7996A>C (p.Thr2666Pro)
n.353-6806T>G
c.8059A>C (p.Thr2687Pro)
c.3319A>C (p.Thr1107Pro)
n.392-6806T>G
2g.219489215A>GCA350708856ASIC4-AS1,SPEGc.8311A>G (p.Thr2771Ala)
n.7554A>G
c.8029A>G (p.Thr2677Ala)
c.5935A>G (p.Thr1979Ala)
c.5764A>G (p.Thr1922Ala)
c.5950A>G (p.Thr1984Ala)
c.7999A>G (p.Thr2667Ala)
c.8341A>G (p.Thr2781Ala)
c.8173A>G (p.Thr2725Ala)
c.8164A>G (p.Thr2722Ala)
c.8158A>G (p.Thr2720Ala)
c.8080A>G (p.Thr2694Ala)
c.7996A>G (p.Thr2666Ala)
n.353-6806T>C
c.8059A>G (p.Thr2687Ala)
c.3319A>G (p.Thr1107Ala)
n.392-6806T>C
2g.219489215A>TCA350708857ASIC4-AS1,SPEGc.8311A>T (p.Thr2771Ser)
n.7554A>T
c.8029A>T (p.Thr2677Ser)
c.5935A>T (p.Thr1979Ser)
c.5764A>T (p.Thr1922Ser)
c.5950A>T (p.Thr1984Ser)
c.7999A>T (p.Thr2667Ser)
c.8341A>T (p.Thr2781Ser)
c.8173A>T (p.Thr2725Ser)
c.8164A>T (p.Thr2722Ser)
c.8158A>T (p.Thr2720Ser)
c.8080A>T (p.Thr2694Ser)
c.7996A>T (p.Thr2666Ser)
n.353-6806T>A
c.8059A>T (p.Thr2687Ser)
c.3319A>T (p.Thr1107Ser)
n.392-6806T>A
2g.219489216C>ACA350708858ASIC4-AS1,SPEGc.8312C>A (p.Thr2771Asn)
n.7555C>A
c.8030C>A (p.Thr2677Asn)
c.5936C>A (p.Thr1979Asn)
c.5765C>A (p.Thr1922Asn)
c.5951C>A (p.Thr1984Asn)
c.8000C>A (p.Thr2667Asn)
c.8342C>A (p.Thr2781Asn)
c.8174C>A (p.Thr2725Asn)
c.8165C>A (p.Thr2722Asn)
c.8159C>A (p.Thr2720Asn)
c.8081C>A (p.Thr2694Asn)
c.7997C>A (p.Thr2666Asn)
n.353-6807G>T
c.8060C>A (p.Thr2687Asn)
c.3320C>A (p.Thr1107Asn)
n.392-6807G>T
2g.219489216C>GCA350708859ASIC4-AS1,SPEGc.8312C>G (p.Thr2771Ser)
n.7555C>G
c.8030C>G (p.Thr2677Ser)
c.5936C>G (p.Thr1979Ser)
c.5765C>G (p.Thr1922Ser)
c.5951C>G (p.Thr1984Ser)
c.8000C>G (p.Thr2667Ser)
c.8342C>G (p.Thr2781Ser)
c.8174C>G (p.Thr2725Ser)
c.8165C>G (p.Thr2722Ser)
c.8159C>G (p.Thr2720Ser)
c.8081C>G (p.Thr2694Ser)
c.7997C>G (p.Thr2666Ser)
n.353-6807G>C
c.8060C>G (p.Thr2687Ser)
c.3320C>G (p.Thr1107Ser)
n.392-6807G>C
2g.219489216C>TCA350708860ASIC4-AS1,SPEGc.8312C>T (p.Thr2771Ile)
n.7555C>T
c.8030C>T (p.Thr2677Ile)
c.5936C>T (p.Thr1979Ile)
c.5765C>T (p.Thr1922Ile)
c.5951C>T (p.Thr1984Ile)
c.8000C>T (p.Thr2667Ile)
c.8342C>T (p.Thr2781Ile)
c.8174C>T (p.Thr2725Ile)
c.8165C>T (p.Thr2722Ile)
c.8159C>T (p.Thr2720Ile)
c.8081C>T (p.Thr2694Ile)
c.7997C>T (p.Thr2666Ile)
n.353-6807G>A
c.8060C>T (p.Thr2687Ile)
c.3320C>T (p.Thr1107Ile)
n.392-6807G>A
 dbSNP
2g.219489217T>ACA431431518ASIC4-AS1,SPEGc.8313T>A (p.Thr2771=)
n.7556T>A
c.8031T>A (p.Thr2677=)
c.5937T>A (p.Thr1979=)
c.5766T>A (p.Thr1922=)
c.5952T>A (p.Thr1984=)
c.8001T>A (p.Thr2667=)
c.8343T>A (p.Thr2781=)
c.8175T>A (p.Thr2725=)
c.8166T>A (p.Thr2722=)
c.8160T>A (p.Thr2720=)
c.8082T>A (p.Thr2694=)
c.7998T>A (p.Thr2666=)
n.353-6808A>T
c.8061T>A (p.Thr2687=)
c.3321T>A (p.Thr1107=)
n.392-6808A>T
2g.219489217T>CCA431431519ASIC4-AS1,SPEGc.8313T>C (p.Thr2771=)
n.7556T>C
c.8031T>C (p.Thr2677=)
c.5937T>C (p.Thr1979=)
c.5766T>C (p.Thr1922=)
c.5952T>C (p.Thr1984=)
c.8001T>C (p.Thr2667=)
c.8343T>C (p.Thr2781=)
c.8175T>C (p.Thr2725=)
c.8166T>C (p.Thr2722=)
c.8160T>C (p.Thr2720=)
c.8082T>C (p.Thr2694=)
c.7998T>C (p.Thr2666=)
n.353-6808A>G
c.8061T>C (p.Thr2687=)
c.3321T>C (p.Thr1107=)
n.392-6808A>G
2g.219489217T>GCA431431520ASIC4-AS1,SPEGc.8313T>G (p.Thr2771=)
n.7556T>G
c.8031T>G (p.Thr2677=)
c.5937T>G (p.Thr1979=)
c.5766T>G (p.Thr1922=)
c.5952T>G (p.Thr1984=)
c.8001T>G (p.Thr2667=)
c.8343T>G (p.Thr2781=)
c.8175T>G (p.Thr2725=)
c.8166T>G (p.Thr2722=)
c.8160T>G (p.Thr2720=)
c.8082T>G (p.Thr2694=)
c.7998T>G (p.Thr2666=)
n.353-6808A>C
c.8061T>G (p.Thr2687=)
c.3321T>G (p.Thr1107=)
n.392-6808A>C
2g.219489218C>ACA350708861ASIC4-AS1,SPEGc.8314C>A (p.Gln2772Lys)
n.7557C>A
c.8032C>A (p.Gln2678Lys)
c.5938C>A (p.Gln1980Lys)
c.5767C>A (p.Gln1923Lys)
c.5953C>A (p.Gln1985Lys)
c.8002C>A (p.Gln2668Lys)
c.8344C>A (p.Gln2782Lys)
c.8176C>A (p.Gln2726Lys)
c.8167C>A (p.Gln2723Lys)
c.8161C>A (p.Gln2721Lys)
c.8083C>A (p.Gln2695Lys)
c.7999C>A (p.Gln2667Lys)
n.353-6809G>T
c.8062C>A (p.Gln2688Lys)
c.3322C>A (p.Gln1108Lys)
n.392-6809G>T
2g.219489218C=CA1329242244ASIC4-AS1,SPEGc.8314C= (p.Gln2772=)
n.7557C=
c.8032C= (p.Gln2678=)
c.5938C= (p.Gln1980=)
c.5767C= (p.Gln1923=)
c.5953C= (p.Gln1985=)
c.8002C= (p.Gln2668=)
c.8344C= (p.Gln2782=)
c.8176C= (p.Gln2726=)
c.8167C= (p.Gln2723=)
c.8161C= (p.Gln2721=)
c.8083C= (p.Gln2695=)
c.7999C= (p.Gln2667=)
n.353-6809G=
c.8062C= (p.Gln2688=)
c.3322C= (p.Gln1108=)
n.392-6809G=
2g.219489218C>GCA2127443ASIC4-AS1,SPEGc.8314C>G (p.Gln2772Glu)
n.7557C>G
c.8032C>G (p.Gln2678Glu)
c.5938C>G (p.Gln1980Glu)
c.5767C>G (p.Gln1923Glu)
c.5953C>G (p.Gln1985Glu)
c.8002C>G (p.Gln2668Glu)
c.8344C>G (p.Gln2782Glu)
c.8176C>G (p.Gln2726Glu)
c.8167C>G (p.Gln2723Glu)
c.8161C>G (p.Gln2721Glu)
c.8083C>G (p.Gln2695Glu)
c.7999C>G (p.Gln2667Glu)
n.353-6809G>C
c.8062C>G (p.Gln2688Glu)
c.3322C>G (p.Gln1108Glu)
n.392-6809G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489218C>TCA350708862ASIC4-AS1,SPEGc.8314C>T (p.Gln2772Ter)
n.7557C>T
c.8032C>T (p.Gln2678Ter)
c.5938C>T (p.Gln1980Ter)
c.5767C>T (p.Gln1923Ter)
c.5953C>T (p.Gln1985Ter)
c.8002C>T (p.Gln2668Ter)
c.8344C>T (p.Gln2782Ter)
c.8176C>T (p.Gln2726Ter)
c.8167C>T (p.Gln2723Ter)
c.8161C>T (p.Gln2721Ter)
c.8083C>T (p.Gln2695Ter)
c.7999C>T (p.Gln2667Ter)
n.353-6809G>A
c.8062C>T (p.Gln2688Ter)
c.3322C>T (p.Gln1108Ter)
n.392-6809G>A
2g.219489219A>CCA350708863ASIC4-AS1,SPEGc.8315A>C (p.Gln2772Pro)
n.7558A>C
c.8033A>C (p.Gln2678Pro)
c.5939A>C (p.Gln1980Pro)
c.5768A>C (p.Gln1923Pro)
c.5954A>C (p.Gln1985Pro)
c.8003A>C (p.Gln2668Pro)
c.8345A>C (p.Gln2782Pro)
c.8177A>C (p.Gln2726Pro)
c.8168A>C (p.Gln2723Pro)
c.8162A>C (p.Gln2721Pro)
c.8084A>C (p.Gln2695Pro)
c.8000A>C (p.Gln2667Pro)
n.353-6810T>G
c.8063A>C (p.Gln2688Pro)
c.3323A>C (p.Gln1108Pro)
n.392-6810T>G
2g.219489219A>GCA350708864ASIC4-AS1,SPEGc.8315A>G (p.Gln2772Arg)
n.7558A>G
c.8033A>G (p.Gln2678Arg)
c.5939A>G (p.Gln1980Arg)
c.5768A>G (p.Gln1923Arg)
c.5954A>G (p.Gln1985Arg)
c.8003A>G (p.Gln2668Arg)
c.8345A>G (p.Gln2782Arg)
c.8177A>G (p.Gln2726Arg)
c.8168A>G (p.Gln2723Arg)
c.8162A>G (p.Gln2721Arg)
c.8084A>G (p.Gln2695Arg)
c.8000A>G (p.Gln2667Arg)
n.353-6810T>C
c.8063A>G (p.Gln2688Arg)
c.3323A>G (p.Gln1108Arg)
n.392-6810T>C
2g.219489219A>TCA350708865ASIC4-AS1,SPEGc.8315A>T (p.Gln2772Leu)
n.7558A>T
c.8033A>T (p.Gln2678Leu)
c.5939A>T (p.Gln1980Leu)
c.5768A>T (p.Gln1923Leu)
c.5954A>T (p.Gln1985Leu)
c.8003A>T (p.Gln2668Leu)
c.8345A>T (p.Gln2782Leu)
c.8177A>T (p.Gln2726Leu)
c.8168A>T (p.Gln2723Leu)
c.8162A>T (p.Gln2721Leu)
c.8084A>T (p.Gln2695Leu)
c.8000A>T (p.Gln2667Leu)
n.353-6810T>A
c.8063A>T (p.Gln2688Leu)
c.3323A>T (p.Gln1108Leu)
n.392-6810T>A
2g.219489220A=CA1329242245ASIC4-AS1,SPEGc.8316A= (p.Gln2772=)
n.7559A=
c.8034A= (p.Gln2678=)
c.5940A= (p.Gln1980=)
c.5769A= (p.Gln1923=)
c.5955A= (p.Gln1985=)
c.8004A= (p.Gln2668=)
c.8346A= (p.Gln2782=)
c.8178A= (p.Gln2726=)
c.8169A= (p.Gln2723=)
c.8163A= (p.Gln2721=)
c.8085A= (p.Gln2695=)
c.8001A= (p.Gln2667=)
n.353-6811T=
c.8064A= (p.Gln2688=)
c.3324A= (p.Gln1108=)
n.392-6811T=
2g.219489220A>CCA350708867ASIC4-AS1,SPEGc.8316A>C (p.Gln2772His)
n.7559A>C
c.8034A>C (p.Gln2678His)
c.5940A>C (p.Gln1980His)
c.5769A>C (p.Gln1923His)
c.5955A>C (p.Gln1985His)
c.8004A>C (p.Gln2668His)
c.8346A>C (p.Gln2782His)
c.8178A>C (p.Gln2726His)
c.8169A>C (p.Gln2723His)
c.8163A>C (p.Gln2721His)
c.8085A>C (p.Gln2695His)
c.8001A>C (p.Gln2667His)
n.353-6811T>G
c.8064A>C (p.Gln2688His)
c.3324A>C (p.Gln1108His)
n.392-6811T>G
 dbSNP gnomAD v2 gnomAD v4
2g.219489220A>GCA431431524ASIC4-AS1,SPEGc.8316A>G (p.Gln2772=)
n.7559A>G
c.8034A>G (p.Gln2678=)
c.5940A>G (p.Gln1980=)
c.5769A>G (p.Gln1923=)
c.5955A>G (p.Gln1985=)
c.8004A>G (p.Gln2668=)
c.8346A>G (p.Gln2782=)
c.8178A>G (p.Gln2726=)
c.8169A>G (p.Gln2723=)
c.8163A>G (p.Gln2721=)
c.8085A>G (p.Gln2695=)
c.8001A>G (p.Gln2667=)
n.353-6811T>C
c.8064A>G (p.Gln2688=)
c.3324A>G (p.Gln1108=)
n.392-6811T>C
2g.219489220A>TCA350708866ASIC4-AS1,SPEGc.8316A>T (p.Gln2772His)
n.7559A>T
c.8034A>T (p.Gln2678His)
c.5940A>T (p.Gln1980His)
c.5769A>T (p.Gln1923His)
c.5955A>T (p.Gln1985His)
c.8004A>T (p.Gln2668His)
c.8346A>T (p.Gln2782His)
c.8178A>T (p.Gln2726His)
c.8169A>T (p.Gln2723His)
c.8163A>T (p.Gln2721His)
c.8085A>T (p.Gln2695His)
c.8001A>T (p.Gln2667His)
n.353-6811T>A
c.8064A>T (p.Gln2688His)
c.3324A>T (p.Gln1108His)
n.392-6811T>A
2g.219489221G>ACA350708868ASIC4-AS1,SPEGc.8317G>A (p.Asp2773Asn)
n.7560G>A
c.8035G>A (p.Asp2679Asn)
c.5941G>A (p.Asp1981Asn)
c.5770G>A (p.Asp1924Asn)
c.5956G>A (p.Asp1986Asn)
c.8005G>A (p.Asp2669Asn)
c.8347G>A (p.Asp2783Asn)
c.8179G>A (p.Asp2727Asn)
c.8170G>A (p.Asp2724Asn)
c.8164G>A (p.Asp2722Asn)
c.8086G>A (p.Asp2696Asn)
c.8002G>A (p.Asp2668Asn)
n.353-6812C>T
c.8065G>A (p.Asp2689Asn)
c.3325G>A (p.Asp1109Asn)
n.392-6812C>T
2g.219489221G>CCA350708869ASIC4-AS1,SPEGc.8317G>C (p.Asp2773His)
n.7560G>C
c.8035G>C (p.Asp2679His)
c.5941G>C (p.Asp1981His)
c.5770G>C (p.Asp1924His)
c.5956G>C (p.Asp1986His)
c.8005G>C (p.Asp2669His)
c.8347G>C (p.Asp2783His)
c.8179G>C (p.Asp2727His)
c.8170G>C (p.Asp2724His)
c.8164G>C (p.Asp2722His)
c.8086G>C (p.Asp2696His)
c.8002G>C (p.Asp2668His)
n.353-6812C>G
c.8065G>C (p.Asp2689His)
c.3325G>C (p.Asp1109His)
n.392-6812C>G
2g.219489221G>TCA350708870ASIC4-AS1,SPEGc.8317G>T (p.Asp2773Tyr)
n.7560G>T
c.8035G>T (p.Asp2679Tyr)
c.5941G>T (p.Asp1981Tyr)
c.5770G>T (p.Asp1924Tyr)
c.5956G>T (p.Asp1986Tyr)
c.8005G>T (p.Asp2669Tyr)
c.8347G>T (p.Asp2783Tyr)
c.8179G>T (p.Asp2727Tyr)
c.8170G>T (p.Asp2724Tyr)
c.8164G>T (p.Asp2722Tyr)
c.8086G>T (p.Asp2696Tyr)
c.8002G>T (p.Asp2668Tyr)
n.353-6812C>A
c.8065G>T (p.Asp2689Tyr)
c.3325G>T (p.Asp1109Tyr)
n.392-6812C>A
2g.219489222G>ACA350708871ASIC4-AS1,SPEGc.8317+1G>A (n.8317+1G>A)
n.7560+1G>A
c.8035+1G>A (n.8035+1G>A)
c.5941+1G>A (n.5941+1G>A)
c.5770+1G>A (n.5770+1G>A)
c.5956+1G>A (n.5956+1G>A)
c.8005+1G>A (n.8005+1G>A)
c.8347+1G>A (n.8347+1G>A)
c.8179+1G>A (n.8179+1G>A)
c.8170+1G>A (n.8170+1G>A)
c.8164+1G>A (n.8164+1G>A)
c.8086+1G>A (n.8086+1G>A)
c.8002+1G>A (n.8002+1G>A)
n.353-6813C>T
c.8065+1G>A (n.8065+1G>A)
c.3325+1G>A (n.3325+1G>A)
n.392-6813C>T
 dbSNP gnomAD v3 gnomAD v4
2g.219489222G>CCA350708872ASIC4-AS1,SPEGc.8317+1G>C (n.8317+1G>C)
n.7560+1G>C
c.8035+1G>C (n.8035+1G>C)
c.5941+1G>C (n.5941+1G>C)
c.5770+1G>C (n.5770+1G>C)
c.5956+1G>C (n.5956+1G>C)
c.8005+1G>C (n.8005+1G>C)
c.8347+1G>C (n.8347+1G>C)
c.8179+1G>C (n.8179+1G>C)
c.8170+1G>C (n.8170+1G>C)
c.8164+1G>C (n.8164+1G>C)
c.8086+1G>C (n.8086+1G>C)
c.8002+1G>C (n.8002+1G>C)
n.353-6813C>G
c.8065+1G>C (n.8065+1G>C)
c.3325+1G>C (n.3325+1G>C)
n.392-6813C>G
2g.219489222G=CA1329242246ASIC4-AS1,SPEGc.8317+1G= (n.8317+1G=)
n.7560+1G=
c.8035+1G= (n.8035+1G=)
c.5941+1G= (n.5941+1G=)
c.5770+1G= (n.5770+1G=)
c.5956+1G= (n.5956+1G=)
c.8005+1G= (n.8005+1G=)
c.8347+1G= (n.8347+1G=)
c.8179+1G= (n.8179+1G=)
c.8170+1G= (n.8170+1G=)
c.8164+1G= (n.8164+1G=)
c.8086+1G= (n.8086+1G=)
c.8002+1G= (n.8002+1G=)
n.353-6813C=
c.8065+1G= (n.8065+1G=)
c.3325+1G= (n.3325+1G=)
n.392-6813C=
2g.219489222G>TCA350708873ASIC4-AS1,SPEGc.8317+1G>T (n.8317+1G>T)
n.7560+1G>T
c.8035+1G>T (n.8035+1G>T)
c.5941+1G>T (n.5941+1G>T)
c.5770+1G>T (n.5770+1G>T)
c.5956+1G>T (n.5956+1G>T)
c.8005+1G>T (n.8005+1G>T)
c.8347+1G>T (n.8347+1G>T)
c.8179+1G>T (n.8179+1G>T)
c.8170+1G>T (n.8170+1G>T)
c.8164+1G>T (n.8164+1G>T)
c.8086+1G>T (n.8086+1G>T)
c.8002+1G>T (n.8002+1G>T)
n.353-6813C>A
c.8065+1G>T (n.8065+1G>T)
c.3325+1G>T (n.3325+1G>T)
n.392-6813C>A
2g.219489223T>ACA350708874ASIC4-AS1,SPEGc.8317+2T>A (n.8317+2T>A)
n.7560+2T>A
c.8035+2T>A (n.8035+2T>A)
c.5941+2T>A (n.5941+2T>A)
c.5770+2T>A (n.5770+2T>A)
c.5956+2T>A (n.5956+2T>A)
c.8005+2T>A (n.8005+2T>A)
c.8347+2T>A (n.8347+2T>A)
c.8179+2T>A (n.8179+2T>A)
c.8170+2T>A (n.8170+2T>A)
c.8164+2T>A (n.8164+2T>A)
c.8086+2T>A (n.8086+2T>A)
c.8002+2T>A (n.8002+2T>A)
n.353-6814A>T
c.8065+2T>A (n.8065+2T>A)
c.3325+2T>A (n.3325+2T>A)
n.392-6814A>T
2g.219489223T>CCA350708875ASIC4-AS1,SPEGc.8317+2T>C (n.8317+2T>C)
n.7560+2T>C
c.8035+2T>C (n.8035+2T>C)
c.5941+2T>C (n.5941+2T>C)
c.5770+2T>C (n.5770+2T>C)
c.5956+2T>C (n.5956+2T>C)
c.8005+2T>C (n.8005+2T>C)
c.8347+2T>C (n.8347+2T>C)
c.8179+2T>C (n.8179+2T>C)
c.8170+2T>C (n.8170+2T>C)
c.8164+2T>C (n.8164+2T>C)
c.8086+2T>C (n.8086+2T>C)
c.8002+2T>C (n.8002+2T>C)
n.353-6814A>G
c.8065+2T>C (n.8065+2T>C)
c.3325+2T>C (n.3325+2T>C)
n.392-6814A>G
2g.219489223T>GCA350708876ASIC4-AS1,SPEGc.8317+2T>G (n.8317+2T>G)
n.7560+2T>G
c.8035+2T>G (n.8035+2T>G)
c.5941+2T>G (n.5941+2T>G)
c.5770+2T>G (n.5770+2T>G)
c.5956+2T>G (n.5956+2T>G)
c.8005+2T>G (n.8005+2T>G)
c.8347+2T>G (n.8347+2T>G)
c.8179+2T>G (n.8179+2T>G)
c.8170+2T>G (n.8170+2T>G)
c.8164+2T>G (n.8164+2T>G)
c.8086+2T>G (n.8086+2T>G)
c.8002+2T>G (n.8002+2T>G)
n.353-6814A>C
c.8065+2T>G (n.8065+2T>G)
c.3325+2T>G (n.3325+2T>G)
n.392-6814A>C
2g.219489225A=CA1329242247ASIC4-AS1,SPEGc.8317+4A= (n.8317+4A=)
n.7560+4A=
c.8035+4A= (n.8035+4A=)
c.5941+4A= (n.5941+4A=)
c.5770+4A= (n.5770+4A=)
c.5956+4A= (n.5956+4A=)
c.8005+4A= (n.8005+4A=)
c.8347+4A= (n.8347+4A=)
c.8179+4A= (n.8179+4A=)
c.8170+4A= (n.8170+4A=)
c.8164+4A= (n.8164+4A=)
c.8086+4A= (n.8086+4A=)
c.8002+4A= (n.8002+4A=)
n.353-6816T=
c.8065+4A= (n.8065+4A=)
c.3325+4A= (n.3325+4A=)
n.392-6816T=
2g.219489225A>CCA2127444ASIC4-AS1,SPEGc.8317+4A>C (n.8317+4A>C)
n.7560+4A>C
c.8035+4A>C (n.8035+4A>C)
c.5941+4A>C (n.5941+4A>C)
c.5770+4A>C (n.5770+4A>C)
c.5956+4A>C (n.5956+4A>C)
c.8005+4A>C (n.8005+4A>C)
c.8347+4A>C (n.8347+4A>C)
c.8179+4A>C (n.8179+4A>C)
c.8170+4A>C (n.8170+4A>C)
c.8164+4A>C (n.8164+4A>C)
c.8086+4A>C (n.8086+4A>C)
c.8002+4A>C (n.8002+4A>C)
n.353-6816T>G
c.8065+4A>C (n.8065+4A>C)
c.3325+4A>C (n.3325+4A>C)
n.392-6816T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489225A>GCA2663271158ASIC4-AS1,SPEGc.8317+4A>G (n.8317+4A>G)
n.7560+4A>G
c.8035+4A>G (n.8035+4A>G)
c.5941+4A>G (n.5941+4A>G)
c.5770+4A>G (n.5770+4A>G)
c.5956+4A>G (n.5956+4A>G)
c.8005+4A>G (n.8005+4A>G)
c.8347+4A>G (n.8347+4A>G)
c.8179+4A>G (n.8179+4A>G)
c.8170+4A>G (n.8170+4A>G)
c.8164+4A>G (n.8164+4A>G)
c.8086+4A>G (n.8086+4A>G)
c.8002+4A>G (n.8002+4A>G)
n.353-6816T>C
c.8065+4A>G (n.8065+4A>G)
c.3325+4A>G (n.3325+4A>G)
n.392-6816T>C
 gnomAD v4
2g.219489228G>ACA2127445ASIC4-AS1,SPEGc.8317+7G>A (n.8317+7G>A)
n.7560+7G>A
c.8035+7G>A (n.8035+7G>A)
c.5941+7G>A (n.5941+7G>A)
c.5770+7G>A (n.5770+7G>A)
c.5956+7G>A (n.5956+7G>A)
c.8005+7G>A (n.8005+7G>A)
c.8347+7G>A (n.8347+7G>A)
c.8179+7G>A (n.8179+7G>A)
c.8170+7G>A (n.8170+7G>A)
c.8164+7G>A (n.8164+7G>A)
c.8086+7G>A (n.8086+7G>A)
c.8002+7G>A (n.8002+7G>A)
n.353-6819C>T
c.8065+7G>A (n.8065+7G>A)
c.3325+7G>A (n.3325+7G>A)
n.392-6819C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489228G=CA1329242248ASIC4-AS1,SPEGc.8317+7G= (n.8317+7G=)
n.7560+7G=
c.8035+7G= (n.8035+7G=)
c.5941+7G= (n.5941+7G=)
c.5770+7G= (n.5770+7G=)
c.5956+7G= (n.5956+7G=)
c.8005+7G= (n.8005+7G=)
c.8347+7G= (n.8347+7G=)
c.8179+7G= (n.8179+7G=)
c.8170+7G= (n.8170+7G=)
c.8164+7G= (n.8164+7G=)
c.8086+7G= (n.8086+7G=)
c.8002+7G= (n.8002+7G=)
n.353-6819C=
c.8065+7G= (n.8065+7G=)
c.3325+7G= (n.3325+7G=)
n.392-6819C=
2g.219489230A=CA1329242249ASIC4-AS1,SPEGc.8317+9A= (n.8317+9A=)
n.7560+9A=
c.8035+9A= (n.8035+9A=)
c.5941+9A= (n.5941+9A=)
c.5770+9A= (n.5770+9A=)
c.5956+9A= (n.5956+9A=)
c.8005+9A= (n.8005+9A=)
c.8347+9A= (n.8347+9A=)
c.8179+9A= (n.8179+9A=)
c.8170+9A= (n.8170+9A=)
c.8164+9A= (n.8164+9A=)
c.8086+9A= (n.8086+9A=)
c.8002+9A= (n.8002+9A=)
n.353-6821T=
c.8065+9A= (n.8065+9A=)
c.3325+9A= (n.3325+9A=)
n.392-6821T=
2g.219489230A>GCA2127446ASIC4-AS1,SPEGc.8317+9A>G (n.8317+9A>G)
n.7560+9A>G
c.8035+9A>G (n.8035+9A>G)
c.5941+9A>G (n.5941+9A>G)
c.5770+9A>G (n.5770+9A>G)
c.5956+9A>G (n.5956+9A>G)
c.8005+9A>G (n.8005+9A>G)
c.8347+9A>G (n.8347+9A>G)
c.8179+9A>G (n.8179+9A>G)
c.8170+9A>G (n.8170+9A>G)
c.8164+9A>G (n.8164+9A>G)
c.8086+9A>G (n.8086+9A>G)
c.8002+9A>G (n.8002+9A>G)
n.353-6821T>C
c.8065+9A>G (n.8065+9A>G)
c.3325+9A>G (n.3325+9A>G)
n.392-6821T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489231A=CA1329242250ASIC4-AS1,SPEGc.8317+10A= (n.8317+10A=)
n.7560+10A=
c.8035+10A= (n.8035+10A=)
c.5941+10A= (n.5941+10A=)
c.5770+10A= (n.5770+10A=)
c.5956+10A= (n.5956+10A=)
c.8005+10A= (n.8005+10A=)
c.8347+10A= (n.8347+10A=)
c.8179+10A= (n.8179+10A=)
c.8170+10A= (n.8170+10A=)
c.8164+10A= (n.8164+10A=)
c.8086+10A= (n.8086+10A=)
c.8002+10A= (n.8002+10A=)
n.353-6822T=
c.8065+10A= (n.8065+10A=)
c.3325+10A= (n.3325+10A=)
n.392-6822T=
2g.219489231A>GCA1042528575ASIC4-AS1,SPEGc.8317+10A>G (n.8317+10A>G)
n.7560+10A>G
c.8035+10A>G (n.8035+10A>G)
c.5941+10A>G (n.5941+10A>G)
c.5770+10A>G (n.5770+10A>G)
c.5956+10A>G (n.5956+10A>G)
c.8005+10A>G (n.8005+10A>G)
c.8347+10A>G (n.8347+10A>G)
c.8179+10A>G (n.8179+10A>G)
c.8170+10A>G (n.8170+10A>G)
c.8164+10A>G (n.8164+10A>G)
c.8086+10A>G (n.8086+10A>G)
c.8002+10A>G (n.8002+10A>G)
n.353-6822T>C
c.8065+10A>G (n.8065+10A>G)
c.3325+10A>G (n.3325+10A>G)
n.392-6822T>C
 dbSNP gnomAD v3 gnomAD v4
2g.219489232T>CCA2127447ASIC4-AS1,SPEGc.8317+11T>C (n.8317+11T>C)
n.7560+11T>C
c.8035+11T>C (n.8035+11T>C)
c.5941+11T>C (n.5941+11T>C)
c.5770+11T>C (n.5770+11T>C)
c.5956+11T>C (n.5956+11T>C)
c.8005+11T>C (n.8005+11T>C)
c.8347+11T>C (n.8347+11T>C)
c.8179+11T>C (n.8179+11T>C)
c.8170+11T>C (n.8170+11T>C)
c.8164+11T>C (n.8164+11T>C)
c.8086+11T>C (n.8086+11T>C)
c.8002+11T>C (n.8002+11T>C)
n.353-6823A>G
c.8065+11T>C (n.8065+11T>C)
c.3325+11T>C (n.3325+11T>C)
n.392-6823A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489232T=CA1329242251ASIC4-AS1,SPEGc.8317+11T= (n.8317+11T=)
n.7560+11T=
c.8035+11T= (n.8035+11T=)
c.5941+11T= (n.5941+11T=)
c.5770+11T= (n.5770+11T=)
c.5956+11T= (n.5956+11T=)
c.8005+11T= (n.8005+11T=)
c.8347+11T= (n.8347+11T=)
c.8179+11T= (n.8179+11T=)
c.8170+11T= (n.8170+11T=)
c.8164+11T= (n.8164+11T=)
c.8086+11T= (n.8086+11T=)
c.8002+11T= (n.8002+11T=)
n.353-6823A=
c.8065+11T= (n.8065+11T=)
c.3325+11T= (n.3325+11T=)
n.392-6823A=
2g.219489232_219489235dupCA2663271162ASIC4-AS1,SPEGc.8317+11_8317+14dup (n.8317+11_8317+14dup)
n.7560+11_7560+14dup
c.8035+11_8035+14dup (n.8035+11_8035+14dup)
c.5941+11_5941+14dup (n.5941+11_5941+14dup)
c.5770+11_5770+14dup (n.5770+11_5770+14dup)
c.5956+11_5956+14dup (n.5956+11_5956+14dup)
c.8005+11_8005+14dup (n.8005+11_8005+14dup)
c.8347+11_8347+14dup (n.8347+11_8347+14dup)
c.8179+11_8179+14dup (n.8179+11_8179+14dup)
c.8170+11_8170+14dup (n.8170+11_8170+14dup)
c.8164+11_8164+14dup (n.8164+11_8164+14dup)
c.8086+11_8086+14dup (n.8086+11_8086+14dup)
c.8002+11_8002+14dup (n.8002+11_8002+14dup)
n.353-6826_353-6823dup
c.8065+11_8065+14dup (n.8065+11_8065+14dup)
c.3325+11_3325+14dup (n.3325+11_3325+14dup)
n.392-6826_392-6823dup
 gnomAD v4
2g.219489233G>ACA2577253656ASIC4-AS1,SPEGc.8317+12G>A (n.8317+12G>A)
n.7560+12G>A
c.8035+12G>A (n.8035+12G>A)
c.5941+12G>A (n.5941+12G>A)
c.5770+12G>A (n.5770+12G>A)
c.5956+12G>A (n.5956+12G>A)
c.8005+12G>A (n.8005+12G>A)
c.8347+12G>A (n.8347+12G>A)
c.8179+12G>A (n.8179+12G>A)
c.8170+12G>A (n.8170+12G>A)
c.8164+12G>A (n.8164+12G>A)
c.8086+12G>A (n.8086+12G>A)
c.8002+12G>A (n.8002+12G>A)
n.353-6824C>T
c.8065+12G>A (n.8065+12G>A)
c.3325+12G>A (n.3325+12G>A)
n.392-6824C>T
 gnomAD v4
2g.219489233G>TCA2843203626ASIC4-AS1,SPEGc.8317+12G>T (n.8317+12G>T)
n.7560+12G>T
c.8035+12G>T (n.8035+12G>T)
c.5941+12G>T (n.5941+12G>T)
c.5770+12G>T (n.5770+12G>T)
c.5956+12G>T (n.5956+12G>T)
c.8005+12G>T (n.8005+12G>T)
c.8347+12G>T (n.8347+12G>T)
c.8179+12G>T (n.8179+12G>T)
c.8170+12G>T (n.8170+12G>T)
c.8164+12G>T (n.8164+12G>T)
c.8086+12G>T (n.8086+12G>T)
c.8002+12G>T (n.8002+12G>T)
n.353-6824C>A
c.8065+12G>T (n.8065+12G>T)
c.3325+12G>T (n.3325+12G>T)
n.392-6824C>A
2g.219489234delCA2663271164ASIC4-AS1,SPEGc.8317+13del (n.8317+13del)
n.7560+13del
c.8035+13del (n.8035+13del)
c.5941+13del (n.5941+13del)
c.5770+13del (n.5770+13del)
c.5956+13del (n.5956+13del)
c.8005+13del (n.8005+13del)
c.8347+13del (n.8347+13del)
c.8179+13del (n.8179+13del)
c.8170+13del (n.8170+13del)
c.8164+13del (n.8164+13del)
c.8086+13del (n.8086+13del)
c.8002+13del (n.8002+13del)
n.353-6824del
c.8065+13del (n.8065+13del)
c.3325+13del (n.3325+13del)
n.392-6824del
 gnomAD v4
2g.219489235T>CCA2663271165ASIC4-AS1,SPEGc.8317+14T>C (n.8317+14T>C)
n.7560+14T>C
c.8035+14T>C (n.8035+14T>C)
c.5941+14T>C (n.5941+14T>C)
c.5770+14T>C (n.5770+14T>C)
c.5956+14T>C (n.5956+14T>C)
c.8005+14T>C (n.8005+14T>C)
c.8347+14T>C (n.8347+14T>C)
c.8179+14T>C (n.8179+14T>C)
c.8170+14T>C (n.8170+14T>C)
c.8164+14T>C (n.8164+14T>C)
c.8086+14T>C (n.8086+14T>C)
c.8002+14T>C (n.8002+14T>C)
n.353-6826A>G
c.8065+14T>C (n.8065+14T>C)
c.3325+14T>C (n.3325+14T>C)
n.392-6826A>G
 gnomAD v4
2g.219489236A=CA1329242252ASIC4-AS1,SPEGc.8317+15A= (n.8317+15A=)
n.7560+15A=
c.8035+15A= (n.8035+15A=)
c.5941+15A= (n.5941+15A=)
c.5770+15A= (n.5770+15A=)
c.5956+15A= (n.5956+15A=)
c.8005+15A= (n.8005+15A=)
c.8347+15A= (n.8347+15A=)
c.8179+15A= (n.8179+15A=)
c.8170+15A= (n.8170+15A=)
c.8164+15A= (n.8164+15A=)
c.8086+15A= (n.8086+15A=)
c.8002+15A= (n.8002+15A=)
n.353-6827T=
c.8065+15A= (n.8065+15A=)
c.3325+15A= (n.3325+15A=)
n.392-6827T=
2g.219489236A>GCA2127448ASIC4-AS1,SPEGc.8317+15A>G (n.8317+15A>G)
n.7560+15A>G
c.8035+15A>G (n.8035+15A>G)
c.5941+15A>G (n.5941+15A>G)
c.5770+15A>G (n.5770+15A>G)
c.5956+15A>G (n.5956+15A>G)
c.8005+15A>G (n.8005+15A>G)
c.8347+15A>G (n.8347+15A>G)
c.8179+15A>G (n.8179+15A>G)
c.8170+15A>G (n.8170+15A>G)
c.8164+15A>G (n.8164+15A>G)
c.8086+15A>G (n.8086+15A>G)
c.8002+15A>G (n.8002+15A>G)
n.353-6827T>C
c.8065+15A>G (n.8065+15A>G)
c.3325+15A>G (n.3325+15A>G)
n.392-6827T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489236A>TCA764976255ASIC4-AS1,SPEGc.8317+15A>T (n.8317+15A>T)
n.7560+15A>T
c.8035+15A>T (n.8035+15A>T)
c.5941+15A>T (n.5941+15A>T)
c.5770+15A>T (n.5770+15A>T)
c.5956+15A>T (n.5956+15A>T)
c.8005+15A>T (n.8005+15A>T)
c.8347+15A>T (n.8347+15A>T)
c.8179+15A>T (n.8179+15A>T)
c.8170+15A>T (n.8170+15A>T)
c.8164+15A>T (n.8164+15A>T)
c.8086+15A>T (n.8086+15A>T)
c.8002+15A>T (n.8002+15A>T)
n.353-6827T>A
c.8065+15A>T (n.8065+15A>T)
c.3325+15A>T (n.3325+15A>T)
n.392-6827T>A
 dbSNP
2g.219489237T>CCA539843486ASIC4-AS1,SPEGc.8317+16T>C (n.8317+16T>C)
n.7560+16T>C
c.8035+16T>C (n.8035+16T>C)
c.5941+16T>C (n.5941+16T>C)
c.5770+16T>C (n.5770+16T>C)
c.5956+16T>C (n.5956+16T>C)
c.8005+16T>C (n.8005+16T>C)
c.8347+16T>C (n.8347+16T>C)
c.8179+16T>C (n.8179+16T>C)
c.8170+16T>C (n.8170+16T>C)
c.8164+16T>C (n.8164+16T>C)
c.8086+16T>C (n.8086+16T>C)
c.8002+16T>C (n.8002+16T>C)
n.353-6828A>G
c.8065+16T>C (n.8065+16T>C)
c.3325+16T>C (n.3325+16T>C)
n.392-6828A>G
 dbSNP gnomAD v2 gnomAD v4
2g.219489237T=CA1329242253ASIC4-AS1,SPEGc.8317+16T= (n.8317+16T=)
n.7560+16T=
c.8035+16T= (n.8035+16T=)
c.5941+16T= (n.5941+16T=)
c.5770+16T= (n.5770+16T=)
c.5956+16T= (n.5956+16T=)
c.8005+16T= (n.8005+16T=)
c.8347+16T= (n.8347+16T=)
c.8179+16T= (n.8179+16T=)
c.8170+16T= (n.8170+16T=)
c.8164+16T= (n.8164+16T=)
c.8086+16T= (n.8086+16T=)
c.8002+16T= (n.8002+16T=)
n.353-6828A=
c.8065+16T= (n.8065+16T=)
c.3325+16T= (n.3325+16T=)
n.392-6828A=
2g.219489238G>TCA2577253657ASIC4-AS1,SPEGc.8317+17G>T (n.8317+17G>T)
n.7560+17G>T
c.8035+17G>T (n.8035+17G>T)
c.5941+17G>T (n.5941+17G>T)
c.5770+17G>T (n.5770+17G>T)
c.5956+17G>T (n.5956+17G>T)
c.8005+17G>T (n.8005+17G>T)
c.8347+17G>T (n.8347+17G>T)
c.8179+17G>T (n.8179+17G>T)
c.8170+17G>T (n.8170+17G>T)
c.8164+17G>T (n.8164+17G>T)
c.8086+17G>T (n.8086+17G>T)
c.8002+17G>T (n.8002+17G>T)
n.353-6829C>A
c.8065+17G>T (n.8065+17G>T)
c.3325+17G>T (n.3325+17G>T)
n.392-6829C>A
2g.219489239G>TCA2663271171ASIC4-AS1,SPEGc.8317+18G>T (n.8317+18G>T)
n.7560+18G>T
c.8035+18G>T (n.8035+18G>T)
c.5941+18G>T (n.5941+18G>T)
c.5770+18G>T (n.5770+18G>T)
c.5956+18G>T (n.5956+18G>T)
c.8005+18G>T (n.8005+18G>T)
c.8347+18G>T (n.8347+18G>T)
c.8179+18G>T (n.8179+18G>T)
c.8170+18G>T (n.8170+18G>T)
c.8164+18G>T (n.8164+18G>T)
c.8086+18G>T (n.8086+18G>T)
c.8002+18G>T (n.8002+18G>T)
n.353-6830C>A
c.8065+18G>T (n.8065+18G>T)
c.3325+18G>T (n.3325+18G>T)
n.392-6830C>A
 gnomAD v4
2g.219489240G>ACA2754328272ASIC4-AS1,SPEGc.8317+19G>A (n.8317+19G>A)
n.7560+19G>A
c.8035+19G>A (n.8035+19G>A)
c.5941+19G>A (n.5941+19G>A)
c.5770+19G>A (n.5770+19G>A)
c.5956+19G>A (n.5956+19G>A)
c.8005+19G>A (n.8005+19G>A)
c.8347+19G>A (n.8347+19G>A)
c.8179+19G>A (n.8179+19G>A)
c.8170+19G>A (n.8170+19G>A)
c.8164+19G>A (n.8164+19G>A)
c.8086+19G>A (n.8086+19G>A)
c.8002+19G>A (n.8002+19G>A)
n.353-6831C>T
c.8065+19G>A (n.8065+19G>A)
c.3325+19G>A (n.3325+19G>A)
n.392-6831C>T
2g.219489240_219489242delinsGGTCA1329242254ASIC4-AS1,SPEGc.8317+19_8317+21delinsGGT (n.8317+19_8317+21delinsGGT)
n.7560+19_7560+21delinsGGT
c.8035+19_8035+21delinsGGT (n.8035+19_8035+21delinsGGT)
c.5941+19_5941+21delinsGGT (n.5941+19_5941+21delinsGGT)
c.5770+19_5770+21delinsGGT (n.5770+19_5770+21delinsGGT)
c.5956+19_5956+21delinsGGT (n.5956+19_5956+21delinsGGT)
c.8005+19_8005+21delinsGGT (n.8005+19_8005+21delinsGGT)
c.8347+19_8347+21delinsGGT (n.8347+19_8347+21delinsGGT)
c.8179+19_8179+21delinsGGT (n.8179+19_8179+21delinsGGT)
c.8170+19_8170+21delinsGGT (n.8170+19_8170+21delinsGGT)
c.8164+19_8164+21delinsGGT (n.8164+19_8164+21delinsGGT)
c.8086+19_8086+21delinsGGT (n.8086+19_8086+21delinsGGT)
c.8002+19_8002+21delinsGGT (n.8002+19_8002+21delinsGGT)
n.353-6833_353-6831delinsACC
c.8065+19_8065+21delinsGGT (n.8065+19_8065+21delinsGGT)
c.3325+19_3325+21delinsGGT (n.3325+19_3325+21delinsGGT)
n.392-6833_392-6831delinsACC
2g.219489241G>ACA539843487ASIC4-AS1,SPEGc.8317+20G>A (n.8317+20G>A)
n.7560+20G>A
c.8035+20G>A (n.8035+20G>A)
c.5941+20G>A (n.5941+20G>A)
c.5770+20G>A (n.5770+20G>A)
c.5956+20G>A (n.5956+20G>A)
c.8005+20G>A (n.8005+20G>A)
c.8347+20G>A (n.8347+20G>A)
c.8179+20G>A (n.8179+20G>A)
c.8170+20G>A (n.8170+20G>A)
c.8164+20G>A (n.8164+20G>A)
c.8086+20G>A (n.8086+20G>A)
c.8002+20G>A (n.8002+20G>A)
n.353-6832C>T
c.8065+20G>A (n.8065+20G>A)
c.3325+20G>A (n.3325+20G>A)
n.392-6832C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219489241G=CA1329242256ASIC4-AS1,SPEGc.8317+20G= (n.8317+20G=)
n.7560+20G=
c.8035+20G= (n.8035+20G=)
c.5941+20G= (n.5941+20G=)
c.5770+20G= (n.5770+20G=)
c.5956+20G= (n.5956+20G=)
c.8005+20G= (n.8005+20G=)
c.8347+20G= (n.8347+20G=)
c.8179+20G= (n.8179+20G=)
c.8170+20G= (n.8170+20G=)
c.8164+20G= (n.8164+20G=)
c.8086+20G= (n.8086+20G=)
c.8002+20G= (n.8002+20G=)
n.353-6832C=
c.8065+20G= (n.8065+20G=)
c.3325+20G= (n.3325+20G=)
n.392-6832C=
2g.219489242_219489243delCA1329242255ASIC4-AS1,SPEGc.8317+21_8317+22del (n.8317+21_8317+22del)
n.7560+21_7560+22del
c.8035+21_8035+22del (n.8035+21_8035+22del)
c.5941+21_5941+22del (n.5941+21_5941+22del)
c.5770+21_5770+22del (n.5770+21_5770+22del)
c.5956+21_5956+22del (n.5956+21_5956+22del)
c.8005+21_8005+22del (n.8005+21_8005+22del)
c.8347+21_8347+22del (n.8347+21_8347+22del)
c.8179+21_8179+22del (n.8179+21_8179+22del)
c.8170+21_8170+22del (n.8170+21_8170+22del)
c.8164+21_8164+22del (n.8164+21_8164+22del)
c.8086+21_8086+22del (n.8086+21_8086+22del)
c.8002+21_8002+22del (n.8002+21_8002+22del)
n.353-6833_353-6832del
c.8065+21_8065+22del (n.8065+21_8065+22del)
c.3325+21_3325+22del (n.3325+21_3325+22del)
n.392-6833_392-6832del
 dbSNP
2g.219489243G>ACA764976257ASIC4-AS1,SPEGc.8317+22G>A (n.8317+22G>A)
n.7560+22G>A
c.8035+22G>A (n.8035+22G>A)
c.5941+22G>A (n.5941+22G>A)
c.5770+22G>A (n.5770+22G>A)
c.5956+22G>A (n.5956+22G>A)
c.8005+22G>A (n.8005+22G>A)
c.8347+22G>A (n.8347+22G>A)
c.8179+22G>A (n.8179+22G>A)
c.8170+22G>A (n.8170+22G>A)
c.8164+22G>A (n.8164+22G>A)
c.8086+22G>A (n.8086+22G>A)
c.8002+22G>A (n.8002+22G>A)
n.353-6834C>T
c.8065+22G>A (n.8065+22G>A)
c.3325+22G>A (n.3325+22G>A)
n.392-6834C>T
 dbSNP gnomAD v3 gnomAD v4
2g.219489243G=CA1329242257ASIC4-AS1,SPEGc.8317+22G= (n.8317+22G=)
n.7560+22G=
c.8035+22G= (n.8035+22G=)
c.5941+22G= (n.5941+22G=)
c.5770+22G= (n.5770+22G=)
c.5956+22G= (n.5956+22G=)
c.8005+22G= (n.8005+22G=)
c.8347+22G= (n.8347+22G=)
c.8179+22G= (n.8179+22G=)
c.8170+22G= (n.8170+22G=)
c.8164+22G= (n.8164+22G=)
c.8086+22G= (n.8086+22G=)
c.8002+22G= (n.8002+22G=)
n.353-6834C=
c.8065+22G= (n.8065+22G=)
c.3325+22G= (n.3325+22G=)
n.392-6834C=
2g.219489243G>TCA2577253658ASIC4-AS1,SPEGc.8317+22G>T (n.8317+22G>T)
n.7560+22G>T
c.8035+22G>T (n.8035+22G>T)
c.5941+22G>T (n.5941+22G>T)
c.5770+22G>T (n.5770+22G>T)
c.5956+22G>T (n.5956+22G>T)
c.8005+22G>T (n.8005+22G>T)
c.8347+22G>T (n.8347+22G>T)
c.8179+22G>T (n.8179+22G>T)
c.8170+22G>T (n.8170+22G>T)
c.8164+22G>T (n.8164+22G>T)
c.8086+22G>T (n.8086+22G>T)
c.8002+22G>T (n.8002+22G>T)
n.353-6834C>A
c.8065+22G>T (n.8065+22G>T)
c.3325+22G>T (n.3325+22G>T)
n.392-6834C>A
2g.219489245delCA2663271180ASIC4-AS1,SPEGc.8317+24del (n.8317+24del)
n.7560+24del
c.8035+24del (n.8035+24del)
c.5941+24del (n.5941+24del)
c.5770+24del (n.5770+24del)
c.5956+24del (n.5956+24del)
c.8005+24del (n.8005+24del)
c.8347+24del (n.8347+24del)
c.8179+24del (n.8179+24del)
c.8170+24del (n.8170+24del)
c.8164+24del (n.8164+24del)
c.8086+24del (n.8086+24del)
c.8002+24del (n.8002+24del)
n.353-6834del
c.8065+24del (n.8065+24del)
c.3325+24del (n.3325+24del)
n.392-6834del
 gnomAD v4
2g.219489244G>ACA2127449ASIC4-AS1,SPEGc.8317+23G>A (n.8317+23G>A)
n.7560+23G>A
c.8035+23G>A (n.8035+23G>A)
c.5941+23G>A (n.5941+23G>A)
c.5770+23G>A (n.5770+23G>A)
c.5956+23G>A (n.5956+23G>A)
c.8005+23G>A (n.8005+23G>A)
c.8347+23G>A (n.8347+23G>A)
c.8179+23G>A (n.8179+23G>A)
c.8170+23G>A (n.8170+23G>A)
c.8164+23G>A (n.8164+23G>A)
c.8086+23G>A (n.8086+23G>A)
c.8002+23G>A (n.8002+23G>A)
n.353-6835C>T
c.8065+23G>A (n.8065+23G>A)
c.3325+23G>A (n.3325+23G>A)
n.392-6835C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489244G=CA1329242258ASIC4-AS1,SPEGc.8317+23G= (n.8317+23G=)
n.7560+23G=
c.8035+23G= (n.8035+23G=)
c.5941+23G= (n.5941+23G=)
c.5770+23G= (n.5770+23G=)
c.5956+23G= (n.5956+23G=)
c.8005+23G= (n.8005+23G=)
c.8347+23G= (n.8347+23G=)
c.8179+23G= (n.8179+23G=)
c.8170+23G= (n.8170+23G=)
c.8164+23G= (n.8164+23G=)
c.8086+23G= (n.8086+23G=)
c.8002+23G= (n.8002+23G=)
n.353-6835C=
c.8065+23G= (n.8065+23G=)
c.3325+23G= (n.3325+23G=)
n.392-6835C=
2g.219489245G>ACA2127450ASIC4-AS1,SPEGc.8317+24G>A (n.8317+24G>A)
n.7560+24G>A
c.8035+24G>A (n.8035+24G>A)
c.5941+24G>A (n.5941+24G>A)
c.5770+24G>A (n.5770+24G>A)
c.5956+24G>A (n.5956+24G>A)
c.8005+24G>A (n.8005+24G>A)
c.8347+24G>A (n.8347+24G>A)
c.8179+24G>A (n.8179+24G>A)
c.8170+24G>A (n.8170+24G>A)
c.8164+24G>A (n.8164+24G>A)
c.8086+24G>A (n.8086+24G>A)
c.8002+24G>A (n.8002+24G>A)
n.353-6836C>T
c.8065+24G>A (n.8065+24G>A)
c.3325+24G>A (n.3325+24G>A)
n.392-6836C>T
 dbSNP ExAC gnomAD v4
2g.219489245G>CCA539843488ASIC4-AS1,SPEGc.8317+24G>C (n.8317+24G>C)
n.7560+24G>C
c.8035+24G>C (n.8035+24G>C)
c.5941+24G>C (n.5941+24G>C)
c.5770+24G>C (n.5770+24G>C)
c.5956+24G>C (n.5956+24G>C)
c.8005+24G>C (n.8005+24G>C)
c.8347+24G>C (n.8347+24G>C)
c.8179+24G>C (n.8179+24G>C)
c.8170+24G>C (n.8170+24G>C)
c.8164+24G>C (n.8164+24G>C)
c.8086+24G>C (n.8086+24G>C)
c.8002+24G>C (n.8002+24G>C)
n.353-6836C>G
c.8065+24G>C (n.8065+24G>C)
c.3325+24G>C (n.3325+24G>C)
n.392-6836C>G
 dbSNP gnomAD v2 gnomAD v4
2g.219489245G=CA1329242259ASIC4-AS1,SPEGc.8317+24G= (n.8317+24G=)
n.7560+24G=
c.8035+24G= (n.8035+24G=)
c.5941+24G= (n.5941+24G=)
c.5770+24G= (n.5770+24G=)
c.5956+24G= (n.5956+24G=)
c.8005+24G= (n.8005+24G=)
c.8347+24G= (n.8347+24G=)
c.8179+24G= (n.8179+24G=)
c.8170+24G= (n.8170+24G=)
c.8164+24G= (n.8164+24G=)
c.8086+24G= (n.8086+24G=)
c.8002+24G= (n.8002+24G=)
n.353-6836C=
c.8065+24G= (n.8065+24G=)
c.3325+24G= (n.3325+24G=)
n.392-6836C=
2g.219489248G>ACA764976259ASIC4-AS1,SPEGc.8317+27G>A (n.8317+27G>A)
n.7560+27G>A
c.8035+27G>A (n.8035+27G>A)
c.5941+27G>A (n.5941+27G>A)
c.5770+27G>A (n.5770+27G>A)
c.5956+27G>A (n.5956+27G>A)
c.8005+27G>A (n.8005+27G>A)
c.8347+27G>A (n.8347+27G>A)
c.8179+27G>A (n.8179+27G>A)
c.8170+27G>A (n.8170+27G>A)
c.8164+27G>A (n.8164+27G>A)
c.8086+27G>A (n.8086+27G>A)
c.8002+27G>A (n.8002+27G>A)
n.353-6839C>T
c.8065+27G>A (n.8065+27G>A)
c.3325+27G>A (n.3325+27G>A)
n.392-6839C>T
 dbSNP
2g.219489248G=CA1329242260ASIC4-AS1,SPEGc.8317+27G= (n.8317+27G=)
n.7560+27G=
c.8035+27G= (n.8035+27G=)
c.5941+27G= (n.5941+27G=)
c.5770+27G= (n.5770+27G=)
c.5956+27G= (n.5956+27G=)
c.8005+27G= (n.8005+27G=)
c.8347+27G= (n.8347+27G=)
c.8179+27G= (n.8179+27G=)
c.8170+27G= (n.8170+27G=)
c.8164+27G= (n.8164+27G=)
c.8086+27G= (n.8086+27G=)
c.8002+27G= (n.8002+27G=)
n.353-6839C=
c.8065+27G= (n.8065+27G=)
c.3325+27G= (n.3325+27G=)
n.392-6839C=
2g.219489250G>ACA2663271185ASIC4-AS1,SPEGc.8317+29G>A (n.8317+29G>A)
n.7560+29G>A
c.8035+29G>A (n.8035+29G>A)
c.5941+29G>A (n.5941+29G>A)
c.5770+29G>A (n.5770+29G>A)
c.5956+29G>A (n.5956+29G>A)
c.8005+29G>A (n.8005+29G>A)
c.8347+29G>A (n.8347+29G>A)
c.8179+29G>A (n.8179+29G>A)
c.8170+29G>A (n.8170+29G>A)
c.8164+29G>A (n.8164+29G>A)
c.8086+29G>A (n.8086+29G>A)
c.8002+29G>A (n.8002+29G>A)
n.353-6841C>T
c.8065+29G>A (n.8065+29G>A)
c.3325+29G>A (n.3325+29G>A)
n.392-6841C>T
 gnomAD v4
2g.219489253A>GCA2843203627ASIC4-AS1,SPEGc.8317+32A>G (n.8317+32A>G)
n.7560+32A>G
c.8035+32A>G (n.8035+32A>G)
c.5941+32A>G (n.5941+32A>G)
c.5770+32A>G (n.5770+32A>G)
c.5956+32A>G (n.5956+32A>G)
c.8005+32A>G (n.8005+32A>G)
c.8347+32A>G (n.8347+32A>G)
c.8179+32A>G (n.8179+32A>G)
c.8170+32A>G (n.8170+32A>G)
c.8164+32A>G (n.8164+32A>G)
c.8086+32A>G (n.8086+32A>G)
c.8002+32A>G (n.8002+32A>G)
n.353-6844T>C
c.8065+32A>G (n.8065+32A>G)
c.3325+32A>G (n.3325+32A>G)
n.392-6844T>C
2g.219489254G>ACA539843489ASIC4-AS1,SPEGc.8317+33G>A (n.8317+33G>A)
n.7560+33G>A
c.8035+33G>A (n.8035+33G>A)
c.5941+33G>A (n.5941+33G>A)
c.5770+33G>A (n.5770+33G>A)
c.5956+33G>A (n.5956+33G>A)
c.8005+33G>A (n.8005+33G>A)
c.8347+33G>A (n.8347+33G>A)
c.8179+33G>A (n.8179+33G>A)
c.8170+33G>A (n.8170+33G>A)
c.8164+33G>A (n.8164+33G>A)
c.8086+33G>A (n.8086+33G>A)
c.8002+33G>A (n.8002+33G>A)
n.353-6845C>T
c.8065+33G>A (n.8065+33G>A)
c.3325+33G>A (n.3325+33G>A)
n.392-6845C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219489254G>CCA2127451ASIC4-AS1,SPEGc.8317+33G>C (n.8317+33G>C)
n.7560+33G>C
c.8035+33G>C (n.8035+33G>C)
c.5941+33G>C (n.5941+33G>C)
c.5770+33G>C (n.5770+33G>C)
c.5956+33G>C (n.5956+33G>C)
c.8005+33G>C (n.8005+33G>C)
c.8347+33G>C (n.8347+33G>C)
c.8179+33G>C (n.8179+33G>C)
c.8170+33G>C (n.8170+33G>C)
c.8164+33G>C (n.8164+33G>C)
c.8086+33G>C (n.8086+33G>C)
c.8002+33G>C (n.8002+33G>C)
n.353-6845C>G
c.8065+33G>C (n.8065+33G>C)
c.3325+33G>C (n.3325+33G>C)
n.392-6845C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489254G=CA1329242261ASIC4-AS1,SPEGc.8317+33G= (n.8317+33G=)
n.7560+33G=
c.8035+33G= (n.8035+33G=)
c.5941+33G= (n.5941+33G=)
c.5770+33G= (n.5770+33G=)
c.5956+33G= (n.5956+33G=)
c.8005+33G= (n.8005+33G=)
c.8347+33G= (n.8347+33G=)
c.8179+33G= (n.8179+33G=)
c.8170+33G= (n.8170+33G=)
c.8164+33G= (n.8164+33G=)
c.8086+33G= (n.8086+33G=)
c.8002+33G= (n.8002+33G=)
n.353-6845C=
c.8065+33G= (n.8065+33G=)
c.3325+33G= (n.3325+33G=)
n.392-6845C=
2g.219489254G>TCA2663271188ASIC4-AS1,SPEGc.8317+33G>T (n.8317+33G>T)
n.7560+33G>T
c.8035+33G>T (n.8035+33G>T)
c.5941+33G>T (n.5941+33G>T)
c.5770+33G>T (n.5770+33G>T)
c.5956+33G>T (n.5956+33G>T)
c.8005+33G>T (n.8005+33G>T)
c.8347+33G>T (n.8347+33G>T)
c.8179+33G>T (n.8179+33G>T)
c.8170+33G>T (n.8170+33G>T)
c.8164+33G>T (n.8164+33G>T)
c.8086+33G>T (n.8086+33G>T)
c.8002+33G>T (n.8002+33G>T)
n.353-6845C>A
c.8065+33G>T (n.8065+33G>T)
c.3325+33G>T (n.3325+33G>T)
n.392-6845C>A
 gnomAD v4
2g.219489258dupCA2754328274ASIC4-AS1,SPEGc.8317+37dup (n.8317+37dup)
n.7560+37dup
c.8035+37dup (n.8035+37dup)
c.5941+37dup (n.5941+37dup)
c.5770+37dup (n.5770+37dup)
c.5956+37dup (n.5956+37dup)
c.8005+37dup (n.8005+37dup)
c.8347+37dup (n.8347+37dup)
c.8179+37dup (n.8179+37dup)
c.8170+37dup (n.8170+37dup)
c.8164+37dup (n.8164+37dup)
c.8086+37dup (n.8086+37dup)
c.8002+37dup (n.8002+37dup)
n.353-6845dup
c.8065+37dup (n.8065+37dup)
c.3325+37dup (n.3325+37dup)
n.392-6845dup
2g.219489257_219489258dupCA2832545586ASIC4-AS1,SPEGc.8317+36_8317+37dup (n.8317+36_8317+37dup)
n.7560+36_7560+37dup
c.8035+36_8035+37dup (n.8035+36_8035+37dup)
c.5941+36_5941+37dup (n.5941+36_5941+37dup)
c.5770+36_5770+37dup (n.5770+36_5770+37dup)
c.5956+36_5956+37dup (n.5956+36_5956+37dup)
c.8005+36_8005+37dup (n.8005+36_8005+37dup)
c.8347+36_8347+37dup (n.8347+36_8347+37dup)
c.8179+36_8179+37dup (n.8179+36_8179+37dup)
c.8170+36_8170+37dup (n.8170+36_8170+37dup)
c.8164+36_8164+37dup (n.8164+36_8164+37dup)
c.8086+36_8086+37dup (n.8086+36_8086+37dup)
c.8002+36_8002+37dup (n.8002+36_8002+37dup)
n.353-6846_353-6845dup
c.8065+36_8065+37dup (n.8065+36_8065+37dup)
c.3325+36_3325+37dup (n.3325+36_3325+37dup)
n.392-6846_392-6845dup
2g.219489255G=CA1329242262ASIC4-AS1,SPEGc.8317+34G= (n.8317+34G=)
n.7560+34G=
c.8035+34G= (n.8035+34G=)
c.5941+34G= (n.5941+34G=)
c.5770+34G= (n.5770+34G=)
c.5956+34G= (n.5956+34G=)
c.8005+34G= (n.8005+34G=)
c.8347+34G= (n.8347+34G=)
c.8179+34G= (n.8179+34G=)
c.8170+34G= (n.8170+34G=)
c.8164+34G= (n.8164+34G=)
c.8086+34G= (n.8086+34G=)
c.8002+34G= (n.8002+34G=)
n.353-6846C=
c.8065+34G= (n.8065+34G=)
c.3325+34G= (n.3325+34G=)
n.392-6846C=
2g.219489255G>TCA2127452ASIC4-AS1,SPEGc.8317+34G>T (n.8317+34G>T)
n.7560+34G>T
c.8035+34G>T (n.8035+34G>T)
c.5941+34G>T (n.5941+34G>T)
c.5770+34G>T (n.5770+34G>T)
c.5956+34G>T (n.5956+34G>T)
c.8005+34G>T (n.8005+34G>T)
c.8347+34G>T (n.8347+34G>T)
c.8179+34G>T (n.8179+34G>T)
c.8170+34G>T (n.8170+34G>T)
c.8164+34G>T (n.8164+34G>T)
c.8086+34G>T (n.8086+34G>T)
c.8002+34G>T (n.8002+34G>T)
n.353-6846C>A
c.8065+34G>T (n.8065+34G>T)
c.3325+34G>T (n.3325+34G>T)
n.392-6846C>A
 dbSNP ExAC gnomAD v2
2g.219489257G>ACA2663271190ASIC4-AS1,SPEGc.8317+36G>A (n.8317+36G>A)
n.7560+36G>A
c.8035+36G>A (n.8035+36G>A)
c.5941+36G>A (n.5941+36G>A)
c.5770+36G>A (n.5770+36G>A)
c.5956+36G>A (n.5956+36G>A)
c.8005+36G>A (n.8005+36G>A)
c.8347+36G>A (n.8347+36G>A)
c.8179+36G>A (n.8179+36G>A)
c.8170+36G>A (n.8170+36G>A)
c.8164+36G>A (n.8164+36G>A)
c.8086+36G>A (n.8086+36G>A)
c.8002+36G>A (n.8002+36G>A)
n.353-6848C>T
c.8065+36G>A (n.8065+36G>A)
c.3325+36G>A (n.3325+36G>A)
n.392-6848C>T
 gnomAD v4
2g.219489258G>ACA65996995ASIC4-AS1,SPEGc.8317+37G>A (n.8317+37G>A)
n.7560+37G>A
c.8035+37G>A (n.8035+37G>A)
c.5941+37G>A (n.5941+37G>A)
c.5770+37G>A (n.5770+37G>A)
c.5956+37G>A (n.5956+37G>A)
c.8005+37G>A (n.8005+37G>A)
c.8347+37G>A (n.8347+37G>A)
c.8179+37G>A (n.8179+37G>A)
c.8170+37G>A (n.8170+37G>A)
c.8164+37G>A (n.8164+37G>A)
c.8086+37G>A (n.8086+37G>A)
c.8002+37G>A (n.8002+37G>A)
n.353-6849C>T
c.8065+37G>A (n.8065+37G>A)
c.3325+37G>A (n.3325+37G>A)
n.392-6849C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489258G=CA1329242263ASIC4-AS1,SPEGc.8317+37G= (n.8317+37G=)
n.7560+37G=
c.8035+37G= (n.8035+37G=)
c.5941+37G= (n.5941+37G=)
c.5770+37G= (n.5770+37G=)
c.5956+37G= (n.5956+37G=)
c.8005+37G= (n.8005+37G=)
c.8347+37G= (n.8347+37G=)
c.8179+37G= (n.8179+37G=)
c.8170+37G= (n.8170+37G=)
c.8164+37G= (n.8164+37G=)
c.8086+37G= (n.8086+37G=)
c.8002+37G= (n.8002+37G=)
n.353-6849C=
c.8065+37G= (n.8065+37G=)
c.3325+37G= (n.3325+37G=)
n.392-6849C=
2g.219489258G>TCA2663271192ASIC4-AS1,SPEGc.8317+37G>T (n.8317+37G>T)
n.7560+37G>T
c.8035+37G>T (n.8035+37G>T)
c.5941+37G>T (n.5941+37G>T)
c.5770+37G>T (n.5770+37G>T)
c.5956+37G>T (n.5956+37G>T)
c.8005+37G>T (n.8005+37G>T)
c.8347+37G>T (n.8347+37G>T)
c.8179+37G>T (n.8179+37G>T)
c.8170+37G>T (n.8170+37G>T)
c.8164+37G>T (n.8164+37G>T)
c.8086+37G>T (n.8086+37G>T)
c.8002+37G>T (n.8002+37G>T)
n.353-6849C>A
c.8065+37G>T (n.8065+37G>T)
c.3325+37G>T (n.3325+37G>T)
n.392-6849C>A
 gnomAD v4
2g.219489260_219489266delCA2663271191ASIC4-AS1,SPEGc.8317+39_8317+45del (n.8317+39_8317+45del)
n.7560+39_7560+45del
c.8035+39_8035+45del (n.8035+39_8035+45del)
c.5941+39_5941+45del (n.5941+39_5941+45del)
c.5770+39_5770+45del (n.5770+39_5770+45del)
c.5956+39_5956+45del (n.5956+39_5956+45del)
c.8005+39_8005+45del (n.8005+39_8005+45del)
c.8347+39_8347+45del (n.8347+39_8347+45del)
c.8179+39_8179+45del (n.8179+39_8179+45del)
c.8170+39_8170+45del (n.8170+39_8170+45del)
c.8164+39_8164+45del (n.8164+39_8164+45del)
c.8086+39_8086+45del (n.8086+39_8086+45del)
c.8002+39_8002+45del (n.8002+39_8002+45del)
n.353-6855_353-6849del
c.8065+39_8065+45del (n.8065+39_8065+45del)
c.3325+39_3325+45del (n.3325+39_3325+45del)
n.392-6855_392-6849del
 gnomAD v4
2g.219489259C>ACA2663271193ASIC4-AS1,SPEGc.8317+38C>A (n.8317+38C>A)
n.7560+38C>A
c.8035+38C>A (n.8035+38C>A)
c.5941+38C>A (n.5941+38C>A)
c.5770+38C>A (n.5770+38C>A)
c.5956+38C>A (n.5956+38C>A)
c.8005+38C>A (n.8005+38C>A)
c.8347+38C>A (n.8347+38C>A)
c.8179+38C>A (n.8179+38C>A)
c.8170+38C>A (n.8170+38C>A)
c.8164+38C>A (n.8164+38C>A)
c.8086+38C>A (n.8086+38C>A)
c.8002+38C>A (n.8002+38C>A)
n.353-6850G>T
c.8065+38C>A (n.8065+38C>A)
c.3325+38C>A (n.3325+38C>A)
n.392-6850G>T
 gnomAD v4
2g.219489259C=CA1329242264ASIC4-AS1,SPEGc.8317+38C= (n.8317+38C=)
n.7560+38C=
c.8035+38C= (n.8035+38C=)
c.5941+38C= (n.5941+38C=)
c.5770+38C= (n.5770+38C=)
c.5956+38C= (n.5956+38C=)
c.8005+38C= (n.8005+38C=)
c.8347+38C= (n.8347+38C=)
c.8179+38C= (n.8179+38C=)
c.8170+38C= (n.8170+38C=)
c.8164+38C= (n.8164+38C=)
c.8086+38C= (n.8086+38C=)
c.8002+38C= (n.8002+38C=)
n.353-6850G=
c.8065+38C= (n.8065+38C=)
c.3325+38C= (n.3325+38C=)
n.392-6850G=
2g.219489259C>TCA2127453ASIC4-AS1,SPEGc.8317+38C>T (n.8317+38C>T)
n.7560+38C>T
c.8035+38C>T (n.8035+38C>T)
c.5941+38C>T (n.5941+38C>T)
c.5770+38C>T (n.5770+38C>T)
c.5956+38C>T (n.5956+38C>T)
c.8005+38C>T (n.8005+38C>T)
c.8347+38C>T (n.8347+38C>T)
c.8179+38C>T (n.8179+38C>T)
c.8170+38C>T (n.8170+38C>T)
c.8164+38C>T (n.8164+38C>T)
c.8086+38C>T (n.8086+38C>T)
c.8002+38C>T (n.8002+38C>T)
n.353-6850G>A
c.8065+38C>T (n.8065+38C>T)
c.3325+38C>T (n.3325+38C>T)
n.392-6850G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219489261_219489263delinsCTGCA1329242265ASIC4-AS1,SPEGc.8317+40_8317+42delinsCTG (n.8317+40_8317+42delinsCTG)
n.7560+40_7560+42delinsCTG
c.8035+40_8035+42delinsCTG (n.8035+40_8035+42delinsCTG)
c.5941+40_5941+42delinsCTG (n.5941+40_5941+42delinsCTG)
c.5770+40_5770+42delinsCTG (n.5770+40_5770+42delinsCTG)
c.5956+40_5956+42delinsCTG (n.5956+40_5956+42delinsCTG)
c.8005+40_8005+42delinsCTG (n.8005+40_8005+42delinsCTG)
c.8347+40_8347+42delinsCTG (n.8347+40_8347+42delinsCTG)
c.8179+40_8179+42delinsCTG (n.8179+40_8179+42delinsCTG)
c.8170+40_8170+42delinsCTG (n.8170+40_8170+42delinsCTG)
c.8164+40_8164+42delinsCTG (n.8164+40_8164+42delinsCTG)
c.8086+40_8086+42delinsCTG (n.8086+40_8086+42delinsCTG)
c.8002+40_8002+42delinsCTG (n.8002+40_8002+42delinsCTG)
n.353-6854_353-6852delinsCAG
c.8065+40_8065+42delinsCTG (n.8065+40_8065+42delinsCTG)
c.3325+40_3325+42delinsCTG (n.3325+40_3325+42delinsCTG)
n.392-6854_392-6852delinsCAG
2g.219489262T>CCA2663271194ASIC4-AS1,SPEGc.8317+41T>C (n.8317+41T>C)
n.7560+41T>C
c.8035+41T>C (n.8035+41T>C)
c.5941+41T>C (n.5941+41T>C)
c.5770+41T>C (n.5770+41T>C)
c.5956+41T>C (n.5956+41T>C)
c.8005+41T>C (n.8005+41T>C)
c.8347+41T>C (n.8347+41T>C)
c.8179+41T>C (n.8179+41T>C)
c.8170+41T>C (n.8170+41T>C)
c.8164+41T>C (n.8164+41T>C)
c.8086+41T>C (n.8086+41T>C)
c.8002+41T>C (n.8002+41T>C)
n.353-6853A>G
c.8065+41T>C (n.8065+41T>C)
c.3325+41T>C (n.3325+41T>C)
n.392-6853A>G
 gnomAD v4
2g.219489262_219489263delCA539843490ASIC4-AS1,SPEGc.8317+41_8317+42del (n.8317+41_8317+42del)
n.7560+41_7560+42del
c.8035+41_8035+42del (n.8035+41_8035+42del)
c.5941+41_5941+42del (n.5941+41_5941+42del)
c.5770+41_5770+42del (n.5770+41_5770+42del)
c.5956+41_5956+42del (n.5956+41_5956+42del)
c.8005+41_8005+42del (n.8005+41_8005+42del)
c.8347+41_8347+42del (n.8347+41_8347+42del)
c.8179+41_8179+42del (n.8179+41_8179+42del)
c.8170+41_8170+42del (n.8170+41_8170+42del)
c.8164+41_8164+42del (n.8164+41_8164+42del)
c.8086+41_8086+42del (n.8086+41_8086+42del)
c.8002+41_8002+42del (n.8002+41_8002+42del)
n.353-6854_353-6853del
c.8065+41_8065+42del (n.8065+41_8065+42del)
c.3325+41_3325+42del (n.3325+41_3325+42del)
n.392-6854_392-6853del
 dbSNP gnomAD v2 gnomAD v4
2g.219489263G>ACA2127454ASIC4-AS1,SPEGc.8317+42G>A (n.8317+42G>A)
n.7560+42G>A
c.8035+42G>A (n.8035+42G>A)
c.5941+42G>A (n.5941+42G>A)
c.5770+42G>A (n.5770+42G>A)
c.5956+42G>A (n.5956+42G>A)
c.8005+42G>A (n.8005+42G>A)
c.8347+42G>A (n.8347+42G>A)
c.8179+42G>A (n.8179+42G>A)
c.8170+42G>A (n.8170+42G>A)
c.8164+42G>A (n.8164+42G>A)
c.8086+42G>A (n.8086+42G>A)
c.8002+42G>A (n.8002+42G>A)
n.353-6854C>T
c.8065+42G>A (n.8065+42G>A)
c.3325+42G>A (n.3325+42G>A)
n.392-6854C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219489263G>CCA2663271197ASIC4-AS1,SPEGc.8317+42G>C (n.8317+42G>C)
n.7560+42G>C
c.8035+42G>C (n.8035+42G>C)
c.5941+42G>C (n.5941+42G>C)
c.5770+42G>C (n.5770+42G>C)
c.5956+42G>C (n.5956+42G>C)
c.8005+42G>C (n.8005+42G>C)
c.8347+42G>C (n.8347+42G>C)
c.8179+42G>C (n.8179+42G>C)
c.8170+42G>C (n.8170+42G>C)
c.8164+42G>C (n.8164+42G>C)
c.8086+42G>C (n.8086+42G>C)
c.8002+42G>C (n.8002+42G>C)
n.353-6854C>G
c.8065+42G>C (n.8065+42G>C)
c.3325+42G>C (n.3325+42G>C)
n.392-6854C>G
 gnomAD v4
2g.219489263G=CA1329242266ASIC4-AS1,SPEGc.8317+42G= (n.8317+42G=)
n.7560+42G=
c.8035+42G= (n.8035+42G=)
c.5941+42G= (n.5941+42G=)
c.5770+42G= (n.5770+42G=)
c.5956+42G= (n.5956+42G=)
c.8005+42G= (n.8005+42G=)
c.8347+42G= (n.8347+42G=)
c.8179+42G= (n.8179+42G=)
c.8170+42G= (n.8170+42G=)
c.8164+42G= (n.8164+42G=)
c.8086+42G= (n.8086+42G=)
c.8002+42G= (n.8002+42G=)
n.353-6854C=
c.8065+42G= (n.8065+42G=)
c.3325+42G= (n.3325+42G=)
n.392-6854C=
2g.219489267C>TCA2577253659ASIC4-AS1,SPEGc.8317+46C>T (n.8317+46C>T)
n.7560+46C>T
c.8035+46C>T (n.8035+46C>T)
c.5941+46C>T (n.5941+46C>T)
c.5770+46C>T (n.5770+46C>T)
c.5956+46C>T (n.5956+46C>T)
c.8005+46C>T (n.8005+46C>T)
c.8347+46C>T (n.8347+46C>T)
c.8179+46C>T (n.8179+46C>T)
c.8170+46C>T (n.8170+46C>T)
c.8164+46C>T (n.8164+46C>T)
c.8086+46C>T (n.8086+46C>T)
c.8002+46C>T (n.8002+46C>T)
n.353-6858G>A
c.8065+46C>T (n.8065+46C>T)
c.3325+46C>T (n.3325+46C>T)
n.392-6858G>A
2g.219489269A>GCA2663271200ASIC4-AS1,SPEGc.8317+48A>G (n.8317+48A>G)
n.7560+48A>G
c.8035+48A>G (n.8035+48A>G)
c.5941+48A>G (n.5941+48A>G)
c.5770+48A>G (n.5770+48A>G)
c.5956+48A>G (n.5956+48A>G)
c.8005+48A>G (n.8005+48A>G)
c.8347+48A>G (n.8347+48A>G)
c.8179+48A>G (n.8179+48A>G)
c.8170+48A>G (n.8170+48A>G)
c.8164+48A>G (n.8164+48A>G)
c.8086+48A>G (n.8086+48A>G)
c.8002+48A>G (n.8002+48A>G)
n.353-6860T>C
c.8065+48A>G (n.8065+48A>G)
c.3325+48A>G (n.3325+48A>G)
n.392-6860T>C
 gnomAD v4
2g.219489270G>CCA539843491ASIC4-AS1,SPEGc.8317+49G>C (n.8317+49G>C)
n.7560+49G>C
c.8035+49G>C (n.8035+49G>C)
c.5941+49G>C (n.5941+49G>C)
c.5770+49G>C (n.5770+49G>C)
c.5956+49G>C (n.5956+49G>C)
c.8005+49G>C (n.8005+49G>C)
c.8347+49G>C (n.8347+49G>C)
c.8179+49G>C (n.8179+49G>C)
c.8170+49G>C (n.8170+49G>C)
c.8164+49G>C (n.8164+49G>C)
c.8086+49G>C (n.8086+49G>C)
c.8002+49G>C (n.8002+49G>C)
n.353-6861C>G
c.8065+49G>C (n.8065+49G>C)
c.3325+49G>C (n.3325+49G>C)
n.392-6861C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219489270G=CA1329242267ASIC4-AS1,SPEGc.8317+49G= (n.8317+49G=)
n.7560+49G=
c.8035+49G= (n.8035+49G=)
c.5941+49G= (n.5941+49G=)
c.5770+49G= (n.5770+49G=)
c.5956+49G= (n.5956+49G=)
c.8005+49G= (n.8005+49G=)
c.8347+49G= (n.8347+49G=)
c.8179+49G= (n.8179+49G=)
c.8170+49G= (n.8170+49G=)
c.8164+49G= (n.8164+49G=)
c.8086+49G= (n.8086+49G=)
c.8002+49G= (n.8002+49G=)
n.353-6861C=
c.8065+49G= (n.8065+49G=)
c.3325+49G= (n.3325+49G=)
n.392-6861C=
2g.219489270G>TCA2843203628ASIC4-AS1,SPEGc.8317+49G>T (n.8317+49G>T)
n.7560+49G>T
c.8035+49G>T (n.8035+49G>T)
c.5941+49G>T (n.5941+49G>T)
c.5770+49G>T (n.5770+49G>T)
c.5956+49G>T (n.5956+49G>T)
c.8005+49G>T (n.8005+49G>T)
c.8347+49G>T (n.8347+49G>T)
c.8179+49G>T (n.8179+49G>T)
c.8170+49G>T (n.8170+49G>T)
c.8164+49G>T (n.8164+49G>T)
c.8086+49G>T (n.8086+49G>T)
c.8002+49G>T (n.8002+49G>T)
n.353-6861C>A
c.8065+49G>T (n.8065+49G>T)
c.3325+49G>T (n.3325+49G>T)
n.392-6861C>A
2g.219489272G=CA1329242268ASIC4-AS1,SPEGc.8317+51G= (n.8317+51G=)
n.7560+51G=
c.8035+51G= (n.8035+51G=)
c.5941+51G= (n.5941+51G=)
c.5770+51G= (n.5770+51G=)
c.5956+51G= (n.5956+51G=)
c.8005+51G= (n.8005+51G=)
c.8347+51G= (n.8347+51G=)
c.8179+51G= (n.8179+51G=)
c.8170+51G= (n.8170+51G=)
c.8164+51G= (n.8164+51G=)
c.8086+51G= (n.8086+51G=)
c.8002+51G= (n.8002+51G=)
n.353-6863C=
c.8065+51G= (n.8065+51G=)
c.3325+51G= (n.3325+51G=)
n.392-6863C=
2g.219489272G>TCA65997003ASIC4-AS1,SPEGc.8317+51G>T (n.8317+51G>T)
n.7560+51G>T
c.8035+51G>T (n.8035+51G>T)
c.5941+51G>T (n.5941+51G>T)
c.5770+51G>T (n.5770+51G>T)
c.5956+51G>T (n.5956+51G>T)
c.8005+51G>T (n.8005+51G>T)
c.8347+51G>T (n.8347+51G>T)
c.8179+51G>T (n.8179+51G>T)
c.8170+51G>T (n.8170+51G>T)
c.8164+51G>T (n.8164+51G>T)
c.8086+51G>T (n.8086+51G>T)
c.8002+51G>T (n.8002+51G>T)
n.353-6863C>A
c.8065+51G>T (n.8065+51G>T)
c.3325+51G>T (n.3325+51G>T)
n.392-6863C>A
 dbSNP gnomAD v4
2g.219489274T>ACA2843203629ASIC4-AS1,SPEGc.8317+53T>A (n.8317+53T>A)
n.7560+53T>A
c.8035+53T>A (n.8035+53T>A)
c.5941+53T>A (n.5941+53T>A)
c.5770+53T>A (n.5770+53T>A)
c.5956+53T>A (n.5956+53T>A)
c.8005+53T>A (n.8005+53T>A)
c.8347+53T>A (n.8347+53T>A)
c.8179+53T>A (n.8179+53T>A)
c.8170+53T>A (n.8170+53T>A)
c.8164+53T>A (n.8164+53T>A)
c.8086+53T>A (n.8086+53T>A)
c.8002+53T>A (n.8002+53T>A)
n.353-6865A>T
c.8065+53T>A (n.8065+53T>A)
c.3325+53T>A (n.3325+53T>A)
n.392-6865A>T

Number of alleles fetched