Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.23358333_23358336del | CA2695199226 | SACS | c.604+1_604+4del n.742+1_742+4del c.595+1_595+4del n.2961+1_2961+4del c.-1647+1_-1647+4del c.302+1_302+4del c.163+1_163+4del c.628+1_628+4del | ClinVar |
13 | g.23358334C>A | CA387551860 | SACS | c.604+1G>T (n.604+1G>T) n.742+1G>T c.595+1G>T (n.595+1G>T) n.2961+1G>T c.-1647+1G>T (n.-1647+1G>T) c.302+1G>T c.163+1G>T (n.163+1G>T) c.628+1G>T (n.628+1G>T) | |
13 | g.23358334C= | CA2078636385 | SACS | c.604+1G= (n.604+1G=) n.742+1G= c.595+1G= (n.595+1G=) n.2961+1G= c.-1647+1G= (n.-1647+1G=) c.302+1G= c.163+1G= (n.163+1G=) c.628+1G= (n.628+1G=) | |
13 | g.23358334C>G | CA387551861 | SACS | c.604+1G>C (n.604+1G>C) n.742+1G>C c.595+1G>C (n.595+1G>C) n.2961+1G>C c.-1647+1G>C (n.-1647+1G>C) c.302+1G>C c.163+1G>C (n.163+1G>C) c.628+1G>C (n.628+1G>C) | |
13 | g.23358334C>T | CA387551862 | SACS | c.604+1G>A (n.604+1G>A) n.742+1G>A c.595+1G>A (n.595+1G>A) n.2961+1G>A c.-1647+1G>A (n.-1647+1G>A) c.302+1G>A c.163+1G>A (n.163+1G>A) c.628+1G>A (n.628+1G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.23358334_23358339del | CA2695217766 | SACS | c.600_604+1del n.738_742+1del c.591_595+1del n.2957_2961+1del c.-1651_-1647+1del c.298_302+1del c.159_163+1del c.624_628+1del | |
13 | g.23358335C>A | CA387551863 | SACS | c.604G>T (p.Asp202Tyr) n.742G>T c.595G>T (p.Asp199Tyr) n.2961G>T c.-1647G>T (n.-1647G>T) c.302G>T c.163G>T (p.Asp55Tyr) c.628G>T (p.Asp210Tyr) | gnomAD v4 |
13 | g.23358335C>G | CA387551864 | SACS | c.604G>C (p.Asp202His) n.742G>C c.595G>C (p.Asp199His) n.2961G>C c.-1647G>C (n.-1647G>C) c.302G>C c.163G>C (p.Asp55His) c.628G>C (p.Asp210His) | |
13 | g.23358335C>T | CA387551865 | SACS | c.604G>A (p.Asp202Asn) n.742G>A c.595G>A (p.Asp199Asn) n.2961G>A c.-1647G>A (n.-1647G>A) c.302G>A c.163G>A (p.Asp55Asn) c.628G>A (p.Asp210Asn) | |
13 | g.23358336T>A | CA482921887 | SACS | c.603A>T (p.Thr201=) n.741A>T c.594A>T (p.Thr198=) n.2960A>T c.-1648A>T (n.-1648A>T) c.301A>T c.162A>T (p.Thr54=) c.627A>T (p.Thr209=) | |
13 | g.23358336T>C | CA482921885 | SACS | c.603A>G (p.Thr201=) n.741A>G c.594A>G (p.Thr198=) n.2960A>G c.-1648A>G (n.-1648A>G) c.301A>G c.162A>G (p.Thr54=) c.627A>G (p.Thr209=) | |
13 | g.23358336T>G | CA482921883 | SACS | c.603A>C (p.Thr201=) n.741A>C c.594A>C (p.Thr198=) n.2960A>C c.-1648A>C (n.-1648A>C) c.301A>C c.162A>C (p.Thr54=) c.627A>C (p.Thr209=) | |
13 | g.23358337G>A | CA387551866 | SACS | c.602C>T (p.Thr201Ile) n.740C>T c.593C>T (p.Thr198Ile) n.2959C>T c.-1649C>T (n.-1649C>T) c.300C>T c.161C>T (p.Thr54Ile) c.626C>T (p.Thr209Ile) | |
13 | g.23358337G>C | CA387551868 | SACS | c.602C>G (p.Thr201Arg) n.740C>G c.593C>G (p.Thr198Arg) n.2959C>G c.-1649C>G (n.-1649C>G) c.300C>G c.161C>G (p.Thr54Arg) c.626C>G (p.Thr209Arg) | |
13 | g.23358337G>T | CA387551867 | SACS | c.602C>A (p.Thr201Lys) n.740C>A c.593C>A (p.Thr198Lys) n.2959C>A c.-1649C>A (n.-1649C>A) c.300C>A c.161C>A (p.Thr54Lys) c.626C>A (p.Thr209Lys) | |
13 | g.23358338T>A | CA387551869 | SACS | c.601A>T (p.Thr201Ser) n.739A>T c.592A>T (p.Thr198Ser) n.2958A>T c.-1650A>T (n.-1650A>T) c.299A>T c.160A>T (p.Thr54Ser) c.625A>T (p.Thr209Ser) | dbSNP gnomAD v4 |
13 | g.23358338T>C | CA387551871 | SACS | c.601A>G (p.Thr201Ala) n.739A>G c.592A>G (p.Thr198Ala) n.2958A>G c.-1650A>G (n.-1650A>G) c.299A>G c.160A>G (p.Thr54Ala) c.625A>G (p.Thr209Ala) | gnomAD v4 |
13 | g.23358338T>G | CA387551870 | SACS | c.601A>C (p.Thr201Pro) n.739A>C c.592A>C (p.Thr198Pro) n.2958A>C c.-1650A>C (n.-1650A>C) c.299A>C c.160A>C (p.Thr54Pro) c.625A>C (p.Thr209Pro) | |
13 | g.23358338T= | CA2078636392 | SACS | c.601A= (p.Thr201=) n.739A= c.592A= (p.Thr198=) n.2958A= c.-1650A= (n.-1650A=) c.299A= c.160A= (p.Thr54=) c.625A= (p.Thr209=) | |
13 | g.23358339T>A | CA482921896 | SACS | c.600A>T (p.Ile200=) n.738A>T c.591A>T (p.Ile197=) n.2957A>T c.-1651A>T (n.-1651A>T) c.298A>T c.159A>T (p.Ile53=) c.624A>T (p.Ile208=) | |
13 | g.23358339T>C | CA387551872 | SACS | c.600A>G (p.Ile200Met) n.738A>G c.591A>G (p.Ile197Met) n.2957A>G c.-1651A>G (n.-1651A>G) c.298A>G c.159A>G (p.Ile53Met) c.624A>G (p.Ile208Met) | ClinVar dbSNP gnomAD v4 |
13 | g.23358339T>G | CA482921899 | SACS | c.600A>C (p.Ile200=) n.738A>C c.591A>C (p.Ile197=) n.2957A>C c.-1651A>C (n.-1651A>C) c.298A>C c.159A>C (p.Ile53=) c.624A>C (p.Ile208=) | COSMIC COSMIC |
13 | g.23358340A>C | CA387551875 | SACS | c.599T>G (p.Ile200Arg) n.737T>G c.590T>G (p.Ile197Arg) n.2956T>G c.-1652T>G (n.-1652T>G) c.297T>G c.158T>G (p.Ile53Arg) c.623T>G (p.Ile208Arg) | |
13 | g.23358340A>G | CA387551873 | SACS | c.599T>C (p.Ile200Thr) n.737T>C c.590T>C (p.Ile197Thr) n.2956T>C c.-1652T>C (n.-1652T>C) c.297T>C c.158T>C (p.Ile53Thr) c.623T>C (p.Ile208Thr) | |
13 | g.23358340A>T | CA387551874 | SACS | c.599T>A (p.Ile200Lys) n.737T>A c.590T>A (p.Ile197Lys) n.2956T>A c.-1652T>A (n.-1652T>A) c.297T>A c.158T>A (p.Ile53Lys) c.623T>A (p.Ile208Lys) | |
13 | g.23358341T>A | CA387551876 | SACS | c.598A>T (p.Ile200Leu) n.736A>T c.589A>T (p.Ile197Leu) n.2955A>T c.-1653A>T (n.-1653A>T) c.296A>T c.157A>T (p.Ile53Leu) c.622A>T (p.Ile208Leu) | |
13 | g.23358341T>C | CA6912053 | SACS | c.598A>G (p.Ile200Val) n.736A>G c.589A>G (p.Ile197Val) n.2955A>G c.-1653A>G (n.-1653A>G) c.296A>G c.157A>G (p.Ile53Val) c.622A>G (p.Ile208Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358341T>G | CA387551877 | SACS | c.598A>C (p.Ile200Leu) n.736A>C c.589A>C (p.Ile197Leu) n.2955A>C c.-1653A>C (n.-1653A>C) c.296A>C c.157A>C (p.Ile53Leu) c.622A>C (p.Ile208Leu) | |
13 | g.23358341T= | CA2078636398 | SACS | c.598A= (p.Ile200=) n.736A= c.589A= (p.Ile197=) n.2955A= c.-1653A= (n.-1653A=) c.296A= c.157A= (p.Ile53=) c.622A= (p.Ile208=) | |
13 | g.23358342A= | CA2078636405 | SACS | c.597T= (p.His199=) n.735T= c.588T= (p.His196=) n.2954T= c.-1654T= (n.-1654T=) c.295T= c.156T= (p.His52=) c.621T= (p.His207=) | |
13 | g.23358342A>C | CA387551878 | SACS | c.597T>G (p.His199Gln) n.735T>G c.588T>G (p.His196Gln) n.2954T>G c.-1654T>G (n.-1654T>G) c.295T>G c.156T>G (p.His52Gln) c.621T>G (p.His207Gln) | |
13 | g.23358342A>G | CA6912054 | SACS | c.597T>C (p.His199=) n.735T>C c.588T>C (p.His196=) n.2954T>C c.-1654T>C (n.-1654T>C) c.295T>C c.156T>C (p.His52=) c.621T>C (p.His207=) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.23358342A>T | CA387551879 | SACS | c.597T>A (p.His199Gln) n.735T>A c.588T>A (p.His196Gln) n.2954T>A c.-1654T>A (n.-1654T>A) c.295T>A c.156T>A (p.His52Gln) c.621T>A (p.His207Gln) | |
13 | g.23358343T>A | CA387551880 | SACS | c.596A>T (p.His199Leu) n.734A>T c.587A>T (p.His196Leu) n.2953A>T c.-1655A>T (n.-1655A>T) c.294A>T c.155A>T (p.His52Leu) c.620A>T (p.His207Leu) | |
13 | g.23358343T>C | CA387551881 | SACS | c.596A>G (p.His199Arg) n.734A>G c.587A>G (p.His196Arg) n.2953A>G c.-1655A>G (n.-1655A>G) c.294A>G c.155A>G (p.His52Arg) c.620A>G (p.His207Arg) | gnomAD v4 |
13 | g.23358343T>G | CA387551882 | SACS | c.596A>C (p.His199Pro) n.734A>C c.587A>C (p.His196Pro) n.2953A>C c.-1655A>C (n.-1655A>C) c.294A>C c.155A>C (p.His52Pro) c.620A>C (p.His207Pro) | |
13 | g.23358344G>A | CA387551883 | SACS | c.595C>T (p.His199Tyr) n.733C>T c.586C>T (p.His196Tyr) n.2952C>T c.-1656C>T (n.-1656C>T) c.293C>T c.154C>T (p.His52Tyr) c.619C>T (p.His207Tyr) | |
13 | g.23358344G>C | CA387551884 | SACS | c.595C>G (p.His199Asp) n.733C>G c.586C>G (p.His196Asp) n.2952C>G c.-1656C>G (n.-1656C>G) c.293C>G c.154C>G (p.His52Asp) c.619C>G (p.His207Asp) | |
13 | g.23358344G>T | CA387551885 | SACS | c.595C>A (p.His199Asn) n.733C>A c.586C>A (p.His196Asn) n.2952C>A c.-1656C>A (n.-1656C>A) c.293C>A c.154C>A (p.His52Asn) c.619C>A (p.His207Asn) | |
13 | g.23358345A>C | CA387551887 | SACS | c.594T>G (p.Tyr198Ter) n.732T>G c.585T>G (p.Tyr195Ter) n.2951T>G c.-1657T>G (n.-1657T>G) c.292T>G c.153T>G (p.Tyr51Ter) c.618T>G (p.Tyr206Ter) | |
13 | g.23358345A>G | CA482921918 | SACS | c.594T>C (p.Tyr198=) n.732T>C c.585T>C (p.Tyr195=) n.2951T>C c.-1657T>C (n.-1657T>C) c.292T>C c.153T>C (p.Tyr51=) c.618T>C (p.Tyr206=) | |
13 | g.23358345A>T | CA387551886 | SACS | c.594T>A (p.Tyr198Ter) n.732T>A c.585T>A (p.Tyr195Ter) n.2951T>A c.-1657T>A (n.-1657T>A) c.292T>A c.153T>A (p.Tyr51Ter) c.618T>A (p.Tyr206Ter) | |
13 | g.23358346T>A | CA387551888 | SACS | c.593A>T (p.Tyr198Phe) n.731A>T c.584A>T (p.Tyr195Phe) n.2950A>T c.-1658A>T (n.-1658A>T) c.291A>T c.152A>T (p.Tyr51Phe) c.617A>T (p.Tyr206Phe) | |
13 | g.23358346T>C | CA387551889 | SACS | c.593A>G (p.Tyr198Cys) n.731A>G c.584A>G (p.Tyr195Cys) n.2950A>G c.-1658A>G (n.-1658A>G) c.291A>G c.152A>G (p.Tyr51Cys) c.617A>G (p.Tyr206Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.23358346T>G | CA387551890 | SACS | c.593A>C (p.Tyr198Ser) n.731A>C c.584A>C (p.Tyr195Ser) n.2950A>C c.-1658A>C (n.-1658A>C) c.291A>C c.152A>C (p.Tyr51Ser) c.617A>C (p.Tyr206Ser) | |
13 | g.23358346T= | CA2078636408 | SACS | c.593A= (p.Tyr198=) n.731A= c.584A= (p.Tyr195=) n.2950A= c.-1658A= (n.-1658A=) c.291A= c.152A= (p.Tyr51=) c.617A= (p.Tyr206=) | |
13 | g.23358347A>C | CA387551891 | SACS | c.592T>G (p.Tyr198Asp) n.730T>G c.583T>G (p.Tyr195Asp) n.2949T>G c.-1659T>G (n.-1659T>G) c.290T>G c.151T>G (p.Tyr51Asp) c.616T>G (p.Tyr206Asp) | |
13 | g.23358347A>G | CA387551892 | SACS | c.592T>C (p.Tyr198His) n.730T>C c.583T>C (p.Tyr195His) n.2949T>C c.-1659T>C (n.-1659T>C) c.290T>C c.151T>C (p.Tyr51His) c.616T>C (p.Tyr206His) | |
13 | g.23358347A>T | CA387551893 | SACS | c.592T>A (p.Tyr198Asn) n.730T>A c.583T>A (p.Tyr195Asn) n.2949T>A c.-1659T>A (n.-1659T>A) c.290T>A c.151T>A (p.Tyr51Asn) c.616T>A (p.Tyr206Asn) | |
13 | g.23358350_23358353del | CA2575369606 | SACS | c.589_592del (p.Val197IlefsTer3) n.727_730del c.580_583del (p.Val194IlefsTer3) n.2946_2949del c.-1662_-1659del (n.-1662_-1659del) c.287_290del c.148_151del (p.Val50IlefsTer3) c.613_616del (p.Val205IlefsTer3) | gnomAD v4 |
13 | g.23358348G>A | CA6912055 | SACS | c.591C>T (p.Val197=) n.729C>T c.582C>T (p.Val194=) n.2948C>T c.-1660C>T (n.-1660C>T) c.289C>T c.150C>T (p.Val50=) c.615C>T (p.Val205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358348G>C | CA482921927 | SACS | c.591C>G (p.Val197=) n.729C>G c.582C>G (p.Val194=) n.2948C>G c.-1660C>G (n.-1660C>G) c.289C>G c.150C>G (p.Val50=) c.615C>G (p.Val205=) | |
13 | g.23358348G= | CA2078636413 | SACS | c.591C= (p.Val197=) n.729C= c.582C= (p.Val194=) n.2948C= c.-1660C= (n.-1660C=) c.289C= c.150C= (p.Val50=) c.615C= (p.Val205=) | |
13 | g.23358348G>T | CA482921929 | SACS | c.591C>A (p.Val197=) n.729C>A c.582C>A (p.Val194=) n.2948C>A c.-1660C>A (n.-1660C>A) c.289C>A c.150C>A (p.Val50=) c.615C>A (p.Val205=) | |
13 | g.23358349A>C | CA387551894 | SACS | c.590T>G (p.Val197Gly) n.728T>G c.581T>G (p.Val194Gly) n.2947T>G c.-1661T>G (n.-1661T>G) c.288T>G c.149T>G (p.Val50Gly) c.614T>G (p.Val205Gly) | |
13 | g.23358349A>G | CA387551895 | SACS | c.590T>C (p.Val197Ala) n.728T>C c.581T>C (p.Val194Ala) n.2947T>C c.-1661T>C (n.-1661T>C) c.288T>C c.149T>C (p.Val50Ala) c.614T>C (p.Val205Ala) | COSMIC COSMIC |
13 | g.23358349A>T | CA387551896 | SACS | c.590T>A (p.Val197Asp) n.728T>A c.581T>A (p.Val194Asp) n.2947T>A c.-1661T>A (n.-1661T>A) c.288T>A c.149T>A (p.Val50Asp) c.614T>A (p.Val205Asp) | |
13 | g.23358350C>A | CA387551897 | SACS | c.589G>T (p.Val197Phe) n.727G>T c.580G>T (p.Val194Phe) n.2946G>T c.-1662G>T (n.-1662G>T) c.287G>T c.148G>T (p.Val50Phe) c.613G>T (p.Val205Phe) | |
13 | g.23358350C>G | CA387551898 | SACS | c.589G>C (p.Val197Leu) n.727G>C c.580G>C (p.Val194Leu) n.2946G>C c.-1662G>C (n.-1662G>C) c.287G>C c.148G>C (p.Val50Leu) c.613G>C (p.Val205Leu) | |
13 | g.23358350C>T | CA387551899 | SACS | c.589G>A (p.Val197Ile) n.727G>A c.580G>A (p.Val194Ile) n.2946G>A c.-1662G>A (n.-1662G>A) c.287G>A c.148G>A (p.Val50Ile) c.613G>A (p.Val205Ile) | |
13 | g.23358351A= | CA2078636418 | SACS | c.588T= (p.Ser196=) n.726T= c.579T= (p.Ser193=) n.2945T= c.-1663T= (n.-1663T=) c.286T= c.147T= (p.Ser49=) c.612T= (p.Ser204=) | |
13 | g.23358351A>C | CA482921942 | SACS | c.588T>G (p.Ser196=) n.726T>G c.579T>G (p.Ser193=) n.2945T>G c.-1663T>G (n.-1663T>G) c.286T>G c.147T>G (p.Ser49=) c.612T>G (p.Ser204=) | gnomAD v4 |
13 | g.23358351A>G | CA482921940 | SACS | c.588T>C (p.Ser196=) n.726T>C c.579T>C (p.Ser193=) n.2945T>C c.-1663T>C (n.-1663T>C) c.286T>C c.147T>C (p.Ser49=) c.612T>C (p.Ser204=) | dbSNP |
13 | g.23358351A>T | CA482921938 | SACS | c.588T>A (p.Ser196=) n.726T>A c.579T>A (p.Ser193=) n.2945T>A c.-1663T>A (n.-1663T>A) c.286T>A c.147T>A (p.Ser49=) c.612T>A (p.Ser204=) | |
13 | g.23358352G>A | CA387551900 | SACS | c.587C>T (p.Ser196Phe) n.725C>T c.578C>T (p.Ser193Phe) n.2944C>T c.-1664C>T (n.-1664C>T) c.285C>T c.146C>T (p.Ser49Phe) c.611C>T (p.Ser204Phe) | |
13 | g.23358352G>C | CA387551902 | SACS | c.587C>G (p.Ser196Cys) n.725C>G c.578C>G (p.Ser193Cys) n.2944C>G c.-1664C>G (n.-1664C>G) c.285C>G c.146C>G (p.Ser49Cys) c.611C>G (p.Ser204Cys) | |
13 | g.23358352G>T | CA387551901 | SACS | c.587C>A (p.Ser196Tyr) n.725C>A c.578C>A (p.Ser193Tyr) n.2944C>A c.-1664C>A (n.-1664C>A) c.285C>A c.146C>A (p.Ser49Tyr) c.611C>A (p.Ser204Tyr) | |
13 | g.23358353A>C | CA387551903 | SACS | c.586T>G (p.Ser196Ala) n.724T>G c.577T>G (p.Ser193Ala) n.2943T>G c.-1665T>G (n.-1665T>G) c.284T>G c.145T>G (p.Ser49Ala) c.610T>G (p.Ser204Ala) | |
13 | g.23358353A>G | CA387551904 | SACS | c.586T>C (p.Ser196Pro) n.724T>C c.577T>C (p.Ser193Pro) n.2943T>C c.-1665T>C (n.-1665T>C) c.284T>C c.145T>C (p.Ser49Pro) c.610T>C (p.Ser204Pro) | |
13 | g.23358353A>T | CA387551905 | SACS | c.586T>A (p.Ser196Thr) n.724T>A c.577T>A (p.Ser193Thr) n.2943T>A c.-1665T>A (n.-1665T>A) c.284T>A c.145T>A (p.Ser49Thr) c.610T>A (p.Ser204Thr) | |
13 | g.23358354A>C | CA387551906 | SACS | c.585T>G (p.Asn195Lys) n.723T>G c.576T>G (p.Asn192Lys) n.2942T>G c.-1666T>G (n.-1666T>G) c.283T>G c.144T>G (p.Asn48Lys) c.609T>G (p.Asn203Lys) | gnomAD v4 |
13 | g.23358354A>G | CA482921952 | SACS | c.585T>C (p.Asn195=) n.723T>C c.576T>C (p.Asn192=) n.2942T>C c.-1666T>C (n.-1666T>C) c.283T>C c.144T>C (p.Asn48=) c.609T>C (p.Asn203=) | |
13 | g.23358354A>T | CA387551907 | SACS | c.585T>A (p.Asn195Lys) n.723T>A c.576T>A (p.Asn192Lys) n.2942T>A c.-1666T>A (n.-1666T>A) c.283T>A c.144T>A (p.Asn48Lys) c.609T>A (p.Asn203Lys) | |
13 | g.23358355T>A | CA387551908 | SACS | c.584A>T (p.Asn195Ile) n.722A>T c.575A>T (p.Asn192Ile) n.2941A>T c.-1667A>T (n.-1667A>T) c.282A>T c.143A>T (p.Asn48Ile) c.608A>T (p.Asn203Ile) | |
13 | g.23358355T>C | CA387551909 | SACS | c.584A>G (p.Asn195Ser) n.722A>G c.575A>G (p.Asn192Ser) n.2941A>G c.-1667A>G (n.-1667A>G) c.282A>G c.143A>G (p.Asn48Ser) c.608A>G (p.Asn203Ser) | |
13 | g.23358355T>G | CA387551910 | SACS | c.584A>C (p.Asn195Thr) n.722A>C c.575A>C (p.Asn192Thr) n.2941A>C c.-1667A>C (n.-1667A>C) c.282A>C c.143A>C (p.Asn48Thr) c.608A>C (p.Asn203Thr) | |
13 | g.23358356T>A | CA387551911 | SACS | c.583A>T (p.Asn195Tyr) n.721A>T c.574A>T (p.Asn192Tyr) n.2940A>T c.-1668A>T (n.-1668A>T) c.281A>T c.142A>T (p.Asn48Tyr) c.607A>T (p.Asn203Tyr) | |
13 | g.23358356T>C | CA387551912 | SACS | c.583A>G (p.Asn195Asp) n.721A>G c.574A>G (p.Asn192Asp) n.2940A>G c.-1668A>G (n.-1668A>G) c.281A>G c.142A>G (p.Asn48Asp) c.607A>G (p.Asn203Asp) | |
13 | g.23358356T>G | CA387551913 | SACS | c.583A>C (p.Asn195His) n.721A>C c.574A>C (p.Asn192His) n.2940A>C c.-1668A>C (n.-1668A>C) c.281A>C c.142A>C (p.Asn48His) c.607A>C (p.Asn203His) | |
13 | g.23358357A>C | CA387551914 | SACS | c.582T>G (p.Phe194Leu) n.720T>G c.573T>G (p.Phe191Leu) n.2939T>G c.-1669T>G (n.-1669T>G) c.280T>G c.141T>G (p.Phe47Leu) c.606T>G (p.Phe202Leu) | |
13 | g.23358357A>G | CA482921963 | SACS | c.582T>C (p.Phe194=) n.720T>C c.573T>C (p.Phe191=) n.2939T>C c.-1669T>C (n.-1669T>C) c.280T>C c.141T>C (p.Phe47=) c.606T>C (p.Phe202=) | |
13 | g.23358357A>T | CA387551915 | SACS | c.582T>A (p.Phe194Leu) n.720T>A c.573T>A (p.Phe191Leu) n.2939T>A c.-1669T>A (n.-1669T>A) c.280T>A c.141T>A (p.Phe47Leu) c.606T>A (p.Phe202Leu) | |
13 | g.23358358A>C | CA387551916 | SACS | c.581T>G (p.Phe194Cys) n.719T>G c.572T>G (p.Phe191Cys) n.2938T>G c.-1670T>G (n.-1670T>G) c.279T>G c.140T>G (p.Phe47Cys) c.605T>G (p.Phe202Cys) | |
13 | g.23358358A>G | CA387551918 | SACS | c.581T>C (p.Phe194Ser) n.719T>C c.572T>C (p.Phe191Ser) n.2938T>C c.-1670T>C (n.-1670T>C) c.279T>C c.140T>C (p.Phe47Ser) c.605T>C (p.Phe202Ser) | |
13 | g.23358358A>T | CA387551917 | SACS | c.581T>A (p.Phe194Tyr) n.719T>A c.572T>A (p.Phe191Tyr) n.2938T>A c.-1670T>A (n.-1670T>A) c.279T>A c.140T>A (p.Phe47Tyr) c.605T>A (p.Phe202Tyr) | |
13 | g.23358359A>C | CA387551919 | SACS | c.580T>G (p.Phe194Val) n.718T>G c.571T>G (p.Phe191Val) n.2937T>G c.-1671T>G (n.-1671T>G) c.278T>G c.139T>G (p.Phe47Val) c.604T>G (p.Phe202Val) | |
13 | g.23358359A>G | CA387551920 | SACS | c.580T>C (p.Phe194Leu) n.718T>C c.571T>C (p.Phe191Leu) n.2937T>C c.-1671T>C (n.-1671T>C) c.278T>C c.139T>C (p.Phe47Leu) c.604T>C (p.Phe202Leu) | |
13 | g.23358359A>T | CA387551921 | SACS | c.580T>A (p.Phe194Ile) n.718T>A c.571T>A (p.Phe191Ile) n.2937T>A c.-1671T>A (n.-1671T>A) c.278T>A c.139T>A (p.Phe47Ile) c.604T>A (p.Phe202Ile) | |
13 | g.23358360C>A | CA482921972 | SACS | c.579G>T (p.Gly193=) n.717G>T c.570G>T (p.Gly190=) n.2936G>T c.-1672G>T (n.-1672G>T) c.277G>T c.138G>T (p.Gly46=) c.603G>T (p.Gly201=) | ClinVar gnomAD v4 |
13 | g.23358360C>G | CA482921974 | SACS | c.579G>C (p.Gly193=) n.717G>C c.570G>C (p.Gly190=) n.2936G>C c.-1672G>C (n.-1672G>C) c.277G>C c.138G>C (p.Gly46=) c.603G>C (p.Gly201=) | |
13 | g.23358360C>T | CA482921976 | SACS | c.579G>A (p.Gly193=) n.717G>A c.570G>A (p.Gly190=) n.2936G>A c.-1672G>A (n.-1672G>A) c.277G>A c.138G>A (p.Gly46=) c.603G>A (p.Gly201=) | ClinVar |
13 | g.23358362del | CA2580086878 | SACS | c.579del (p.Phe194LeufsTer7) n.717del c.570del (p.Phe191LeufsTer7) n.2936del c.-1672del (n.-1672del) c.277del c.138del (p.Phe47LeufsTer7) c.603del (p.Phe202LeufsTer7) | ClinVar |
13 | g.23358361C>A | CA387551922 | SACS | c.578G>T (p.Gly193Val) n.716G>T c.569G>T (p.Gly190Val) n.2935G>T c.-1673G>T (n.-1673G>T) c.276G>T c.137G>T (p.Gly46Val) c.602G>T (p.Gly201Val) | |
13 | g.23358361C>G | CA387551923 | SACS | c.578G>C (p.Gly193Ala) n.716G>C c.569G>C (p.Gly190Ala) n.2935G>C c.-1673G>C (n.-1673G>C) c.276G>C c.137G>C (p.Gly46Ala) c.602G>C (p.Gly201Ala) | |
13 | g.23358361C>T | CA387551924 | SACS | c.578G>A (p.Gly193Glu) n.716G>A c.569G>A (p.Gly190Glu) n.2935G>A c.-1673G>A (n.-1673G>A) c.276G>A c.137G>A (p.Gly46Glu) c.602G>A (p.Gly201Glu) | |
13 | g.23358362C>A | CA387551925 | SACS | c.577G>T (p.Gly193Trp) n.715G>T c.568G>T (p.Gly190Trp) n.2934G>T c.-1674G>T (n.-1674G>T) c.275G>T c.136G>T (p.Gly46Trp) c.601G>T (p.Gly201Trp) | |
13 | g.23358362C>G | CA387551926 | SACS | c.577G>C (p.Gly193Arg) n.715G>C c.568G>C (p.Gly190Arg) n.2934G>C c.-1674G>C (n.-1674G>C) c.275G>C c.136G>C (p.Gly46Arg) c.601G>C (p.Gly201Arg) | |
13 | g.23358362C>T | CA387551927 | SACS | c.577G>A (p.Gly193Arg) n.715G>A c.568G>A (p.Gly190Arg) n.2934G>A c.-1674G>A (n.-1674G>A) c.275G>A c.136G>A (p.Gly46Arg) c.601G>A (p.Gly201Arg) | |
13 | g.23358363A= | CA2078636420 | SACS | c.576T= (p.Ile192=) n.714T= c.567T= (p.Ile189=) n.2933T= c.-1675T= (n.-1675T=) c.274T= c.135T= (p.Ile45=) c.600T= (p.Ile200=) | |
13 | g.23358363A>C | CA387551928 | SACS | c.576T>G (p.Ile192Met) n.714T>G c.567T>G (p.Ile189Met) n.2933T>G c.-1675T>G (n.-1675T>G) c.274T>G c.135T>G (p.Ile45Met) c.600T>G (p.Ile200Met) | |
13 | g.23358363A>G | CA482921987 | SACS | c.576T>C (p.Ile192=) n.714T>C c.567T>C (p.Ile189=) n.2933T>C c.-1675T>C (n.-1675T>C) c.274T>C c.135T>C (p.Ile45=) c.600T>C (p.Ile200=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358363A>T | CA482921989 | SACS | c.576T>A (p.Ile192=) n.714T>A c.567T>A (p.Ile189=) n.2933T>A c.-1675T>A (n.-1675T>A) c.274T>A c.135T>A (p.Ile45=) c.600T>A (p.Ile200=) | |
13 | g.23358364A>C | CA387551931 | SACS | c.575T>G (p.Ile192Ser) n.713T>G c.566T>G (p.Ile189Ser) n.2932T>G c.-1676T>G (n.-1676T>G) c.273T>G c.134T>G (p.Ile45Ser) c.599T>G (p.Ile200Ser) | |
13 | g.23358364A>G | CA387551930 | SACS | c.575T>C (p.Ile192Thr) n.713T>C c.566T>C (p.Ile189Thr) n.2932T>C c.-1676T>C (n.-1676T>C) c.273T>C c.134T>C (p.Ile45Thr) c.599T>C (p.Ile200Thr) | |
13 | g.23358364A>T | CA387551929 | SACS | c.575T>A (p.Ile192Asn) n.713T>A c.566T>A (p.Ile189Asn) n.2932T>A c.-1676T>A (n.-1676T>A) c.273T>A c.134T>A (p.Ile45Asn) c.599T>A (p.Ile200Asn) | |
13 | g.23358365T>A | CA387551932 | SACS | c.574A>T (p.Ile192Phe) n.712A>T c.565A>T (p.Ile189Phe) n.2931A>T c.-1677A>T (n.-1677A>T) c.272A>T c.133A>T (p.Ile45Phe) c.598A>T (p.Ile200Phe) | |
13 | g.23358365T>C | CA387551934 | SACS | c.574A>G (p.Ile192Val) n.712A>G c.565A>G (p.Ile189Val) n.2931A>G c.-1677A>G (n.-1677A>G) c.272A>G c.133A>G (p.Ile45Val) c.598A>G (p.Ile200Val) | |
13 | g.23358365T>G | CA387551933 | SACS | c.574A>C (p.Ile192Leu) n.712A>C c.565A>C (p.Ile189Leu) n.2931A>C c.-1677A>C (n.-1677A>C) c.272A>C c.133A>C (p.Ile45Leu) c.598A>C (p.Ile200Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358365T= | CA2078636424 | SACS | c.574A= (p.Ile192=) n.712A= c.565A= (p.Ile189=) n.2931A= c.-1677A= (n.-1677A=) c.272A= c.133A= (p.Ile45=) c.598A= (p.Ile200=) | |
13 | g.23358366T>A | CA482921997 | SACS | c.573A>T (p.Gly191=) n.711A>T c.564A>T (p.Gly188=) n.2930A>T c.-1678A>T (n.-1678A>T) c.271A>T c.132A>T (p.Gly44=) c.597A>T (p.Gly199=) | |
13 | g.23358366T>C | CA6912056 | SACS | c.573A>G (p.Gly191=) n.711A>G c.564A>G (p.Gly188=) n.2930A>G c.-1678A>G (n.-1678A>G) c.271A>G c.132A>G (p.Gly44=) c.597A>G (p.Gly199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358366T>G | CA482921999 | SACS | c.573A>C (p.Gly191=) n.711A>C c.564A>C (p.Gly188=) n.2930A>C c.-1678A>C (n.-1678A>C) c.271A>C c.132A>C (p.Gly44=) c.597A>C (p.Gly199=) | ClinVar gnomAD v4 |
13 | g.23358366T= | CA2078636426 | SACS | c.573A= (p.Gly191=) n.711A= c.564A= (p.Gly188=) n.2930A= c.-1678A= (n.-1678A=) c.271A= c.132A= (p.Gly44=) c.597A= (p.Gly199=) | |
13 | g.23358367C>A | CA387551935 | SACS | c.572G>T (p.Gly191Val) n.710G>T c.563G>T (p.Gly188Val) n.2929G>T c.-1679G>T (n.-1679G>T) c.270G>T c.131G>T (p.Gly44Val) c.596G>T (p.Gly199Val) | |
13 | g.23358367C= | CA2078636430 | SACS | c.572G= (p.Gly191=) n.710G= c.563G= (p.Gly188=) n.2929G= c.-1679G= (n.-1679G=) c.270G= c.131G= (p.Gly44=) c.596G= (p.Gly199=) | |
13 | g.23358367C>G | CA387551936 | SACS | c.572G>C (p.Gly191Ala) n.710G>C c.563G>C (p.Gly188Ala) n.2929G>C c.-1679G>C (n.-1679G>C) c.270G>C c.131G>C (p.Gly44Ala) c.596G>C (p.Gly199Ala) | |
13 | g.23358367C>T | CA387551937 | SACS | c.572G>A (p.Gly191Glu) n.710G>A c.563G>A (p.Gly188Glu) n.2929G>A c.-1679G>A (n.-1679G>A) c.270G>A c.131G>A (p.Gly44Glu) c.596G>A (p.Gly199Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358368C>A | CA387551938 | SACS | c.571G>T (p.Gly191Ter) n.709G>T c.562G>T (p.Gly188Ter) n.2928G>T c.-1680G>T (n.-1680G>T) c.269G>T c.130G>T (p.Gly44Ter) c.595G>T (p.Gly199Ter) | |
13 | g.23358368C>G | CA387551939 | SACS | c.571G>C (p.Gly191Arg) n.709G>C c.562G>C (p.Gly188Arg) n.2928G>C c.-1680G>C (n.-1680G>C) c.269G>C c.130G>C (p.Gly44Arg) c.595G>C (p.Gly199Arg) | |
13 | g.23358368C>T | CA387551940 | SACS | c.571G>A (p.Gly191Arg) n.709G>A c.562G>A (p.Gly188Arg) n.2928G>A c.-1680G>A (n.-1680G>A) c.269G>A c.130G>A (p.Gly44Arg) c.595G>A (p.Gly199Arg) | |
13 | g.23358369A= | CA2078636433 | SACS | c.570T= (p.Phe190=) n.708T= c.561T= (p.Phe187=) n.2927T= c.-1681T= (n.-1681T=) c.268T= c.129T= (p.Phe43=) c.594T= (p.Phe198=) | |
13 | g.23358369A>C | CA387551941 | SACS | c.570T>G (p.Phe190Leu) n.708T>G c.561T>G (p.Phe187Leu) n.2927T>G c.-1681T>G (n.-1681T>G) c.268T>G c.129T>G (p.Phe43Leu) c.594T>G (p.Phe198Leu) | |
13 | g.23358369A>G | CA482922009 | SACS | c.570T>C (p.Phe190=) n.708T>C c.561T>C (p.Phe187=) n.2927T>C c.-1681T>C (n.-1681T>C) c.268T>C c.129T>C (p.Phe43=) c.594T>C (p.Phe198=) | gnomAD v4 |
13 | g.23358369A>T | CA246680318 | SACS | c.570T>A (p.Phe190Leu) n.708T>A c.561T>A (p.Phe187Leu) n.2927T>A c.-1681T>A (n.-1681T>A) c.268T>A c.129T>A (p.Phe43Leu) c.594T>A (p.Phe198Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358370A>C | CA387551942 | SACS | c.569T>G (p.Phe190Cys) n.707T>G c.560T>G (p.Phe187Cys) n.2926T>G c.-1682T>G (n.-1682T>G) c.267T>G c.128T>G (p.Phe43Cys) c.593T>G (p.Phe198Cys) | |
13 | g.23358370A>G | CA387551943 | SACS | c.569T>C (p.Phe190Ser) n.707T>C c.560T>C (p.Phe187Ser) n.2926T>C c.-1682T>C (n.-1682T>C) c.267T>C c.128T>C (p.Phe43Ser) c.593T>C (p.Phe198Ser) | |
13 | g.23358370A>T | CA387551944 | SACS | c.569T>A (p.Phe190Tyr) n.707T>A c.560T>A (p.Phe187Tyr) n.2926T>A c.-1682T>A (n.-1682T>A) c.267T>A c.128T>A (p.Phe43Tyr) c.593T>A (p.Phe198Tyr) | |
13 | g.23358371A>C | CA387551947 | SACS | c.568T>G (p.Phe190Val) n.706T>G c.559T>G (p.Phe187Val) n.2925T>G c.-1683T>G (n.-1683T>G) c.266T>G c.127T>G (p.Phe43Val) c.592T>G (p.Phe198Val) | |
13 | g.23358371A>G | CA387551945 | SACS | c.568T>C (p.Phe190Leu) n.706T>C c.559T>C (p.Phe187Leu) n.2925T>C c.-1683T>C (n.-1683T>C) c.266T>C c.127T>C (p.Phe43Leu) c.592T>C (p.Phe198Leu) | |
13 | g.23358371A>T | CA387551946 | SACS | c.568T>A (p.Phe190Ile) n.706T>A c.559T>A (p.Phe187Ile) n.2925T>A c.-1683T>A (n.-1683T>A) c.266T>A c.127T>A (p.Phe43Ile) c.592T>A (p.Phe198Ile) | |
13 | g.23358372T>A | CA387551948 | SACS | c.567A>T (p.Arg189Ser) n.705A>T c.558A>T (p.Arg186Ser) n.2924A>T c.-1684A>T (n.-1684A>T) c.265A>T c.126A>T (p.Arg42Ser) c.591A>T (p.Arg197Ser) | |
13 | g.23358372T>C | CA482922026 | SACS | c.567A>G (p.Arg189=) n.705A>G c.558A>G (p.Arg186=) n.2924A>G c.-1684A>G (n.-1684A>G) c.265A>G c.126A>G (p.Arg42=) c.591A>G (p.Arg197=) | gnomAD v4 |
13 | g.23358372T>G | CA387551949 | SACS | c.567A>C (p.Arg189Ser) n.705A>C c.558A>C (p.Arg186Ser) n.2924A>C c.-1684A>C (n.-1684A>C) c.265A>C c.126A>C (p.Arg42Ser) c.591A>C (p.Arg197Ser) | |
13 | g.23358373C>A | CA387551950 | SACS | c.566G>T (p.Arg189Ile) n.704G>T c.557G>T (p.Arg186Ile) n.2923G>T c.-1685G>T (n.-1685G>T) c.264G>T c.125G>T (p.Arg42Ile) c.590G>T (p.Arg197Ile) | |
13 | g.23358373C>G | CA387551951 | SACS | c.566G>C (p.Arg189Thr) n.704G>C c.557G>C (p.Arg186Thr) n.2923G>C c.-1685G>C (n.-1685G>C) c.264G>C c.125G>C (p.Arg42Thr) c.590G>C (p.Arg197Thr) | |
13 | g.23358373C>T | CA387551952 | SACS | c.566G>A (p.Arg189Lys) n.704G>A c.557G>A (p.Arg186Lys) n.2923G>A c.-1685G>A (n.-1685G>A) c.264G>A c.125G>A (p.Arg42Lys) c.590G>A (p.Arg197Lys) | |
13 | g.23358374T>A | CA387551953 | SACS | c.565A>T (p.Arg189Ter) n.703A>T c.556A>T (p.Arg186Ter) n.2922A>T c.-1686A>T (n.-1686A>T) c.263A>T c.124A>T (p.Arg42Ter) c.589A>T (p.Arg197Ter) | |
13 | g.23358374T>C | CA387551954 | SACS | c.565A>G (p.Arg189Gly) n.703A>G c.556A>G (p.Arg186Gly) n.2922A>G c.-1686A>G (n.-1686A>G) c.263A>G c.124A>G (p.Arg42Gly) c.589A>G (p.Arg197Gly) | |
13 | g.23358374T>G | CA482922034 | SACS | c.565A>C (p.Arg189=) n.703A>C c.556A>C (p.Arg186=) n.2922A>C c.-1686A>C (n.-1686A>C) c.263A>C c.124A>C (p.Arg42=) c.589A>C (p.Arg197=) | |
13 | g.23358375T>A | CA482922036 | SACS | c.564A>T (p.Gly188=) n.702A>T c.555A>T (p.Gly185=) n.2921A>T c.-1687A>T (n.-1687A>T) c.262A>T c.123A>T (p.Gly41=) c.588A>T (p.Gly196=) | |
13 | g.23358375T>C | CA482922038 | SACS | c.564A>G (p.Gly188=) n.702A>G c.555A>G (p.Gly185=) n.2921A>G c.-1687A>G (n.-1687A>G) c.262A>G c.123A>G (p.Gly41=) c.588A>G (p.Gly196=) | |
13 | g.23358375T>G | CA482922040 | SACS | c.564A>C (p.Gly188=) n.702A>C c.555A>C (p.Gly185=) n.2921A>C c.-1687A>C (n.-1687A>C) c.262A>C c.123A>C (p.Gly41=) c.588A>C (p.Gly196=) | gnomAD v4 |
13 | g.23358375_23358376del | CA2580086879 | SACS | c.563_564del (p.Gly188GlufsTer7) n.701_702del c.554_555del (p.Gly185GlufsTer7) n.2920_2921del c.-1688_-1687del (n.-1688_-1687del) c.261_262del c.122_123del (p.Gly41GlufsTer7) c.587_588del (p.Gly196GlufsTer7) | ClinVar |
13 | g.23358376C>A | CA387551955 | SACS | c.563G>T (p.Gly188Val) n.701G>T c.554G>T (p.Gly185Val) n.2920G>T c.-1688G>T (n.-1688G>T) c.261G>T c.122G>T (p.Gly41Val) c.587G>T (p.Gly196Val) | |
13 | g.23358376C>G | CA387551956 | SACS | c.563G>C (p.Gly188Ala) n.701G>C c.554G>C (p.Gly185Ala) n.2920G>C c.-1688G>C (n.-1688G>C) c.261G>C c.122G>C (p.Gly41Ala) c.587G>C (p.Gly196Ala) | |
13 | g.23358376C>T | CA387551957 | SACS | c.563G>A (p.Gly188Glu) n.701G>A c.554G>A (p.Gly185Glu) n.2920G>A c.-1688G>A (n.-1688G>A) c.261G>A c.122G>A (p.Gly41Glu) c.587G>A (p.Gly196Glu) | |
13 | g.23358377C>A | CA387551959 | SACS | c.562G>T (p.Gly188Ter) n.700G>T c.553G>T (p.Gly185Ter) n.2919G>T c.-1689G>T (n.-1689G>T) c.260G>T c.121G>T (p.Gly41Ter) c.586G>T (p.Gly196Ter) | |
13 | g.23358377C= | CA2078636437 | SACS | c.562G= (p.Gly188=) n.700G= c.553G= (p.Gly185=) n.2919G= c.-1689G= (n.-1689G=) c.260G= c.121G= (p.Gly41=) c.586G= (p.Gly196=) | |
13 | g.23358377C>G | CA387551958 | SACS | c.562G>C (p.Gly188Arg) n.700G>C c.553G>C (p.Gly185Arg) n.2919G>C c.-1689G>C (n.-1689G>C) c.260G>C c.121G>C (p.Gly41Arg) c.586G>C (p.Gly196Arg) | |
13 | g.23358377C>T | CA6912057 | SACS | c.562G>A (p.Gly188Arg) n.700G>A c.553G>A (p.Gly185Arg) n.2919G>A c.-1689G>A (n.-1689G>A) c.260G>A c.121G>A (p.Gly41Arg) c.586G>A (p.Gly196Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.23358378G>A | CA6912058 | SACS | c.561C>T (p.Val187=) n.699C>T c.552C>T (p.Val184=) n.2918C>T c.-1690C>T (n.-1690C>T) c.259C>T c.120C>T (p.Val40=) c.585C>T (p.Val195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.23358378G>C | CA482922053 | SACS | c.561C>G (p.Val187=) n.699C>G c.552C>G (p.Val184=) n.2918C>G c.-1690C>G (n.-1690C>G) c.259C>G c.120C>G (p.Val40=) c.585C>G (p.Val195=) | |
13 | g.23358378G= | CA2078636443 | SACS | c.561C= (p.Val187=) n.699C= c.552C= (p.Val184=) n.2918C= c.-1690C= (n.-1690C=) c.259C= c.120C= (p.Val40=) c.585C= (p.Val195=) | |
13 | g.23358378G>T | CA246680323 | SACS | c.561C>A (p.Val187=) n.699C>A c.552C>A (p.Val184=) n.2918C>A c.-1690C>A (n.-1690C>A) c.259C>A c.120C>A (p.Val40=) c.585C>A (p.Val195=) | dbSNP gnomAD v4 |
13 | g.23358379A>C | CA387551960 | SACS | c.560T>G (p.Val187Gly) n.698T>G c.551T>G (p.Val184Gly) n.2917T>G c.-1691T>G (n.-1691T>G) c.258T>G c.119T>G (p.Val40Gly) c.584T>G (p.Val195Gly) | |
13 | g.23358379A>G | CA387551961 | SACS | c.560T>C (p.Val187Ala) n.698T>C c.551T>C (p.Val184Ala) n.2917T>C c.-1691T>C (n.-1691T>C) c.258T>C c.119T>C (p.Val40Ala) c.584T>C (p.Val195Ala) | |
13 | g.23358379A>T | CA387551962 | SACS | c.560T>A (p.Val187Asp) n.698T>A c.551T>A (p.Val184Asp) n.2917T>A c.-1691T>A (n.-1691T>A) c.258T>A c.119T>A (p.Val40Asp) c.584T>A (p.Val195Asp) | |
13 | g.23358380C>A | CA387551963 | SACS | c.559G>T (p.Val187Phe) n.697G>T c.550G>T (p.Val184Phe) n.2916G>T c.-1692G>T (n.-1692G>T) c.257G>T c.118G>T (p.Val40Phe) c.583G>T (p.Val195Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358380C= | CA2078636455 | SACS | c.559G= (p.Val187=) n.697G= c.550G= (p.Val184=) n.2916G= c.-1692G= (n.-1692G=) c.257G= c.118G= (p.Val40=) c.583G= (p.Val195=) | |
13 | g.23358380C>G | CA387551964 | SACS | c.559G>C (p.Val187Leu) n.697G>C c.550G>C (p.Val184Leu) n.2916G>C c.-1692G>C (n.-1692G>C) c.257G>C c.118G>C (p.Val40Leu) c.583G>C (p.Val195Leu) | |
13 | g.23358380C>T | CA387551965 | SACS | c.559G>A (p.Val187Ile) n.697G>A c.550G>A (p.Val184Ile) n.2916G>A c.-1692G>A (n.-1692G>A) c.257G>A c.118G>A (p.Val40Ile) c.583G>A (p.Val195Ile) | |
13 | g.23358381C>A | CA387551966 | SACS | c.558G>T (p.Lys186Asn) n.696G>T c.549G>T (p.Lys183Asn) n.2915G>T c.-1693G>T (n.-1693G>T) c.256G>T c.117G>T (p.Lys39Asn) c.582G>T (p.Lys194Asn) | |
13 | g.23358381C>G | CA387551967 | SACS | c.558G>C (p.Lys186Asn) n.696G>C c.549G>C (p.Lys183Asn) n.2915G>C c.-1693G>C (n.-1693G>C) c.256G>C c.117G>C (p.Lys39Asn) c.582G>C (p.Lys194Asn) | |
13 | g.23358381C>T | CA482922066 | SACS | c.558G>A (p.Lys186=) n.696G>A c.549G>A (p.Lys183=) n.2915G>A c.-1693G>A (n.-1693G>A) c.256G>A c.117G>A (p.Lys39=) c.582G>A (p.Lys194=) | |
13 | g.23358382T>A | CA387551968 | SACS | c.557A>T (p.Lys186Met) n.695A>T c.548A>T (p.Lys183Met) n.2914A>T c.-1694A>T (n.-1694A>T) c.255A>T c.116A>T (p.Lys39Met) c.581A>T (p.Lys194Met) | |
13 | g.23358382T>C | CA387551969 | SACS | c.557A>G (p.Lys186Arg) n.695A>G c.548A>G (p.Lys183Arg) n.2914A>G c.-1694A>G (n.-1694A>G) c.255A>G c.116A>G (p.Lys39Arg) c.581A>G (p.Lys194Arg) | |
13 | g.23358382T>G | CA387551970 | SACS | c.557A>C (p.Lys186Thr) n.695A>C c.548A>C (p.Lys183Thr) n.2914A>C c.-1694A>C (n.-1694A>C) c.255A>C c.116A>C (p.Lys39Thr) c.581A>C (p.Lys194Thr) | |
13 | g.23358383T>A | CA387551972 | SACS | c.556A>T (p.Lys186Ter) n.694A>T c.547A>T (p.Lys183Ter) n.2913A>T c.-1695A>T (n.-1695A>T) c.254A>T c.115A>T (p.Lys39Ter) c.580A>T (p.Lys194Ter) | |
13 | g.23358383T>C | CA246680330 | SACS | c.556A>G (p.Lys186Glu) n.694A>G c.547A>G (p.Lys183Glu) n.2913A>G c.-1695A>G (n.-1695A>G) c.254A>G c.115A>G (p.Lys39Glu) c.580A>G (p.Lys194Glu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.23358383T>G | CA387551971 | SACS | c.556A>C (p.Lys186Gln) n.694A>C c.547A>C (p.Lys183Gln) n.2913A>C c.-1695A>C (n.-1695A>C) c.254A>C c.115A>C (p.Lys39Gln) c.580A>C (p.Lys194Gln) | |
13 | g.23358383T= | CA2078636457 | SACS | c.556A= (p.Lys186=) n.694A= c.547A= (p.Lys183=) n.2913A= c.-1695A= (n.-1695A=) c.254A= c.115A= (p.Lys39=) c.580A= (p.Lys194=) | |
13 | g.23358384C>A | CA482922082 | SACS | c.555G>T (p.Leu185=) n.693G>T c.546G>T (p.Leu182=) n.2912G>T c.-1696G>T (n.-1696G>T) c.253G>T c.114G>T (p.Leu38=) c.579G>T (p.Leu193=) | |
13 | g.23358384C>G | CA482922078 | SACS | c.555G>C (p.Leu185=) n.693G>C c.546G>C (p.Leu182=) n.2912G>C c.-1696G>C (n.-1696G>C) c.253G>C c.114G>C (p.Leu38=) c.579G>C (p.Leu193=) | gnomAD v4 |
13 | g.23358384C>T | CA482922080 | SACS | c.555G>A (p.Leu185=) n.693G>A c.546G>A (p.Leu182=) n.2912G>A c.-1696G>A (n.-1696G>A) c.253G>A c.114G>A (p.Leu38=) c.579G>A (p.Leu193=) | |
13 | g.23358384_23358385del | CA2580086881 | SACS | c.554_555del (p.Leu185GlnfsTer10) n.692_693del c.545_546del (p.Leu182GlnfsTer10) n.2911_2912del c.-1697_-1696del (n.-1697_-1696del) c.252_253del c.113_114del (p.Leu38GlnfsTer10) c.578_579del (p.Leu193GlnfsTer10) | ClinVar |
13 | g.23358385A= | CA2078636462 | SACS | c.554T= (p.Leu185=) n.692T= c.545T= (p.Leu182=) n.2911T= c.-1697T= (n.-1697T=) c.252T= c.113T= (p.Leu38=) c.578T= (p.Leu193=) | |
13 | g.23358385A>C | CA6912059 | SACS | c.554T>G (p.Leu185Arg) n.692T>G c.545T>G (p.Leu182Arg) n.2911T>G c.-1697T>G (n.-1697T>G) c.252T>G c.113T>G (p.Leu38Arg) c.578T>G (p.Leu193Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.23358385A>G | CA387551973 | SACS | c.554T>C (p.Leu185Pro) n.692T>C c.545T>C (p.Leu182Pro) n.2911T>C c.-1697T>C (n.-1697T>C) c.252T>C c.113T>C (p.Leu38Pro) c.578T>C (p.Leu193Pro) | |
13 | g.23358385A>T | CA387551974 | SACS | c.554T>A (p.Leu185Gln) n.692T>A c.545T>A (p.Leu182Gln) n.2911T>A c.-1697T>A (n.-1697T>A) c.252T>A c.113T>A (p.Leu38Gln) c.578T>A (p.Leu193Gln) | |
13 | g.23358387_23358388dup | CA954043434 | SACS | c.553_554dup (p.Lys186Ter) n.691_692dup c.544_545dup (p.Lys183Ter) n.2910_2911dup c.-1698_-1697dup (n.-1698_-1697dup) c.251_252dup c.112_113dup (p.Lys39Ter) c.577_578dup (p.Lys194Ter) | gnomAD v3 gnomAD v4 |
13 | g.23358386G>A | CA482922089 | SACS | c.553C>T (p.Leu185=) n.691C>T c.544C>T (p.Leu182=) n.2910C>T c.-1698C>T (n.-1698C>T) c.251C>T c.112C>T (p.Leu38=) c.577C>T (p.Leu193=) | gnomAD v4 COSMIC COSMIC |
13 | g.23358386G>C | CA387551975 | SACS | c.553C>G (p.Leu185Val) n.691C>G c.544C>G (p.Leu182Val) n.2910C>G c.-1698C>G (n.-1698C>G) c.251C>G c.112C>G (p.Leu38Val) c.577C>G (p.Leu193Val) | |
13 | g.23358386G>T | CA387551976 | SACS | c.553C>A (p.Leu185Met) n.691C>A c.544C>A (p.Leu182Met) n.2910C>A c.-1698C>A (n.-1698C>A) c.251C>A c.112C>A (p.Leu38Met) c.577C>A (p.Leu193Met) | |
13 | g.23358387A= | CA2078636465 | SACS | c.552T= (p.Pro184=) n.690T= c.543T= (p.Pro181=) n.2909T= c.-1699T= (n.-1699T=) c.250T= c.111T= (p.Pro37=) c.576T= (p.Pro192=) | |
13 | g.23358387A>C | CA6912060 | SACS | c.552T>G (p.Pro184=) n.690T>G c.543T>G (p.Pro181=) n.2909T>G c.-1699T>G (n.-1699T>G) c.250T>G c.111T>G (p.Pro37=) c.576T>G (p.Pro192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358387A>G | CA482922091 | SACS | c.552T>C (p.Pro184=) n.690T>C c.543T>C (p.Pro181=) n.2909T>C c.-1699T>C (n.-1699T>C) c.250T>C c.111T>C (p.Pro37=) c.576T>C (p.Pro192=) | |
13 | g.23358387A>T | CA482922093 | SACS | c.552T>A (p.Pro184=) n.690T>A c.543T>A (p.Pro181=) n.2909T>A c.-1699T>A (n.-1699T>A) c.250T>A c.111T>A (p.Pro37=) c.576T>A (p.Pro192=) | |
13 | g.23358388G>A | CA387551977 | SACS | c.551C>T (p.Pro184Leu) n.689C>T c.542C>T (p.Pro181Leu) n.2908C>T c.-1700C>T (n.-1700C>T) c.249C>T c.110C>T (p.Pro37Leu) c.575C>T (p.Pro192Leu) | |
13 | g.23358388G>C | CA387551978 | SACS | c.551C>G (p.Pro184Arg) n.689C>G c.542C>G (p.Pro181Arg) n.2908C>G c.-1700C>G (n.-1700C>G) c.249C>G c.110C>G (p.Pro37Arg) c.575C>G (p.Pro192Arg) | |
13 | g.23358388G>T | CA387551979 | SACS | c.551C>A (p.Pro184His) n.689C>A c.542C>A (p.Pro181His) n.2908C>A c.-1700C>A (n.-1700C>A) c.249C>A c.110C>A (p.Pro37His) c.575C>A (p.Pro192His) | |
13 | g.23358389G>A | CA387551980 | SACS | c.550C>T (p.Pro184Ser) n.688C>T c.541C>T (p.Pro181Ser) n.2907C>T c.-1701C>T (n.-1701C>T) c.248C>T c.109C>T (p.Pro37Ser) c.574C>T (p.Pro192Ser) | |
13 | g.23358389G>C | CA387551981 | SACS | c.550C>G (p.Pro184Ala) n.688C>G c.541C>G (p.Pro181Ala) n.2907C>G c.-1701C>G (n.-1701C>G) c.248C>G c.109C>G (p.Pro37Ala) c.574C>G (p.Pro192Ala) | |
13 | g.23358389G>T | CA387551982 | SACS | c.550C>A (p.Pro184Thr) n.688C>A c.541C>A (p.Pro181Thr) n.2907C>A c.-1701C>A (n.-1701C>A) c.248C>A c.109C>A (p.Pro37Thr) c.574C>A (p.Pro192Thr) | |
13 | g.23358390A>C | CA387551984 | SACS | c.549T>G (p.Asp183Glu) n.687T>G c.540T>G (p.Asp180Glu) n.2906T>G c.-1702T>G (n.-1702T>G) c.247T>G c.108T>G (p.Asp36Glu) c.573T>G (p.Asp191Glu) | |
13 | g.23358390A>G | CA482922111 | SACS | c.549T>C (p.Asp183=) n.687T>C c.540T>C (p.Asp180=) n.2906T>C c.-1702T>C (n.-1702T>C) c.247T>C c.108T>C (p.Asp36=) c.573T>C (p.Asp191=) | |
13 | g.23358390A>T | CA387551983 | SACS | c.549T>A (p.Asp183Glu) n.687T>A c.540T>A (p.Asp180Glu) n.2906T>A c.-1702T>A (n.-1702T>A) c.247T>A c.108T>A (p.Asp36Glu) c.573T>A (p.Asp191Glu) | |
13 | g.23358391T>A | CA387551985 | SACS | c.548A>T (p.Asp183Val) n.686A>T c.539A>T (p.Asp180Val) n.2905A>T c.-1703A>T (n.-1703A>T) c.246A>T c.107A>T (p.Asp36Val) c.572A>T (p.Asp191Val) | dbSNP |
13 | g.23358391T>C | CA387551987 | SACS | c.548A>G (p.Asp183Gly) n.686A>G c.539A>G (p.Asp180Gly) n.2905A>G c.-1703A>G (n.-1703A>G) c.246A>G c.107A>G (p.Asp36Gly) c.572A>G (p.Asp191Gly) | gnomAD v4 |
13 | g.23358391T>G | CA387551986 | SACS | c.548A>C (p.Asp183Ala) n.686A>C c.539A>C (p.Asp180Ala) n.2905A>C c.-1703A>C (n.-1703A>C) c.246A>C c.107A>C (p.Asp36Ala) c.572A>C (p.Asp191Ala) | |
13 | g.23358391T= | CA2078636467 | SACS | c.548A= (p.Asp183=) n.686A= c.539A= (p.Asp180=) n.2905A= c.-1703A= (n.-1703A=) c.246A= c.107A= (p.Asp36=) c.572A= (p.Asp191=) | |
13 | g.23358392C>A | CA387551988 | SACS | c.547G>T (p.Asp183Tyr) n.685G>T c.538G>T (p.Asp180Tyr) n.2904G>T c.-1704G>T (n.-1704G>T) c.245G>T c.106G>T (p.Asp36Tyr) c.571G>T (p.Asp191Tyr) | |
13 | g.23358392C>G | CA387551990 | SACS | c.547G>C (p.Asp183His) n.685G>C c.538G>C (p.Asp180His) n.2904G>C c.-1704G>C (n.-1704G>C) c.245G>C c.106G>C (p.Asp36His) c.571G>C (p.Asp191His) | |
13 | g.23358392C>T | CA387551989 | SACS | c.547G>A (p.Asp183Asn) n.685G>A c.538G>A (p.Asp180Asn) n.2904G>A c.-1704G>A (n.-1704G>A) c.245G>A c.106G>A (p.Asp36Asn) c.571G>A (p.Asp191Asn) | |
13 | g.23358393A>C | CA387551991 | SACS | c.546T>G (p.Asp182Glu) n.684T>G c.537T>G (p.Asp179Glu) n.2903T>G c.-1705T>G (n.-1705T>G) c.244T>G c.105T>G (p.Asp35Glu) c.570T>G (p.Asp190Glu) | |
13 | g.23358393A>G | CA482922125 | SACS | c.546T>C (p.Asp182=) n.684T>C c.537T>C (p.Asp179=) n.2903T>C c.-1705T>C (n.-1705T>C) c.244T>C c.105T>C (p.Asp35=) c.570T>C (p.Asp190=) | |
13 | g.23358393A>T | CA387551992 | SACS | c.546T>A (p.Asp182Glu) n.684T>A c.537T>A (p.Asp179Glu) n.2903T>A c.-1705T>A (n.-1705T>A) c.244T>A c.105T>A (p.Asp35Glu) c.570T>A (p.Asp190Glu) | |
13 | g.23358394T>A | CA387551993 | SACS | c.545A>T (p.Asp182Val) n.683A>T c.536A>T (p.Asp179Val) n.2902A>T c.-1706A>T (n.-1706A>T) c.243A>T c.104A>T (p.Asp35Val) c.569A>T (p.Asp190Val) | gnomAD v4 |
13 | g.23358394T>C | CA387551994 | SACS | c.545A>G (p.Asp182Gly) n.683A>G c.536A>G (p.Asp179Gly) n.2902A>G c.-1706A>G (n.-1706A>G) c.243A>G c.104A>G (p.Asp35Gly) c.569A>G (p.Asp190Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358394T>G | CA387551995 | SACS | c.545A>C (p.Asp182Ala) n.683A>C c.536A>C (p.Asp179Ala) n.2902A>C c.-1706A>C (n.-1706A>C) c.243A>C c.104A>C (p.Asp35Ala) c.569A>C (p.Asp190Ala) | |
13 | g.23358394T= | CA2078636469 | SACS | c.545A= (p.Asp182=) n.683A= c.536A= (p.Asp179=) n.2902A= c.-1706A= (n.-1706A=) c.243A= c.104A= (p.Asp35=) c.569A= (p.Asp190=) | |
13 | g.23358395C>A | CA387551996 | SACS | c.544G>T (p.Asp182Tyr) n.682G>T c.535G>T (p.Asp179Tyr) n.2901G>T c.-1707G>T (n.-1707G>T) c.242G>T c.103G>T (p.Asp35Tyr) c.568G>T (p.Asp190Tyr) | |
13 | g.23358395C>G | CA387551997 | SACS | c.544G>C (p.Asp182His) n.682G>C c.535G>C (p.Asp179His) n.2901G>C c.-1707G>C (n.-1707G>C) c.242G>C c.103G>C (p.Asp35His) c.568G>C (p.Asp190His) | |
13 | g.23358395C>T | CA387551998 | SACS | c.544G>A (p.Asp182Asn) n.682G>A c.535G>A (p.Asp179Asn) n.2901G>A c.-1707G>A (n.-1707G>A) c.242G>A c.103G>A (p.Asp35Asn) c.568G>A (p.Asp190Asn) | gnomAD v4 |
13 | g.23358396C>A | CA387551999 | SACS | c.543G>T (p.Lys181Asn) n.681G>T c.534G>T (p.Lys178Asn) n.2900G>T c.-1708G>T (n.-1708G>T) c.241G>T c.102G>T (p.Lys34Asn) c.567G>T (p.Lys189Asn) | |
13 | g.23358396C= | CA2078636471 | SACS | c.543G= (p.Lys181=) n.681G= c.534G= (p.Lys178=) n.2900G= c.-1708G= (n.-1708G=) c.241G= c.102G= (p.Lys34=) c.567G= (p.Lys189=) | |
13 | g.23358396C>G | CA387552000 | SACS | c.543G>C (p.Lys181Asn) n.681G>C c.534G>C (p.Lys178Asn) n.2900G>C c.-1708G>C (n.-1708G>C) c.241G>C c.102G>C (p.Lys34Asn) c.567G>C (p.Lys189Asn) | gnomAD v4 |
13 | g.23358396C>T | CA482922134 | SACS | c.543G>A (p.Lys181=) n.681G>A c.534G>A (p.Lys178=) n.2900G>A c.-1708G>A (n.-1708G>A) c.241G>A c.102G>A (p.Lys34=) c.567G>A (p.Lys189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358397T>A | CA387552001 | SACS | c.542A>T (p.Lys181Met) n.680A>T c.533A>T (p.Lys178Met) n.2899A>T c.-1709A>T (n.-1709A>T) c.240A>T c.101A>T (p.Lys34Met) c.566A>T (p.Lys189Met) | gnomAD v4 |
13 | g.23358397T>C | CA387552002 | SACS | c.542A>G (p.Lys181Arg) n.680A>G c.533A>G (p.Lys178Arg) n.2899A>G c.-1709A>G (n.-1709A>G) c.240A>G c.101A>G (p.Lys34Arg) c.566A>G (p.Lys189Arg) | |
13 | g.23358397T>G | CA387552003 | SACS | c.542A>C (p.Lys181Thr) n.680A>C c.533A>C (p.Lys178Thr) n.2899A>C c.-1709A>C (n.-1709A>C) c.240A>C c.101A>C (p.Lys34Thr) c.566A>C (p.Lys189Thr) | |
13 | g.23358401dup | CA2798500479 | SACS | c.542dup (p.Asp182GlyfsTer2) n.680dup c.533dup (p.Asp179GlyfsTer2) n.2899dup c.-1709dup (n.-1709dup) c.240dup c.101dup (p.Asp35GlyfsTer2) c.566dup (p.Asp190GlyfsTer2) | |
13 | g.23358401del | CA2580086882 | SACS | c.542del (p.Lys181ArgfsTer5) n.680del c.533del (p.Lys178ArgfsTer5) n.2899del c.-1709del (n.-1709del) c.240del c.101del (p.Lys34ArgfsTer5) c.566del (p.Lys189ArgfsTer5) | ClinVar |
13 | g.23358398T>A | CA387552004 | SACS | c.541A>T (p.Lys181Ter) n.679A>T c.532A>T (p.Lys178Ter) n.2898A>T c.-1710A>T (n.-1710A>T) c.239A>T c.100A>T (p.Lys34Ter) c.565A>T (p.Lys189Ter) | |
13 | g.23358398T>C | CA387552006 | SACS | c.541A>G (p.Lys181Glu) n.679A>G c.532A>G (p.Lys178Glu) n.2898A>G c.-1710A>G (n.-1710A>G) c.239A>G c.100A>G (p.Lys34Glu) c.565A>G (p.Lys189Glu) | dbSNP |
13 | g.23358398T>G | CA387552005 | SACS | c.541A>C (p.Lys181Gln) n.679A>C c.532A>C (p.Lys178Gln) n.2898A>C c.-1710A>C (n.-1710A>C) c.239A>C c.100A>C (p.Lys34Gln) c.565A>C (p.Lys189Gln) | |
13 | g.23358398T= | CA2078636474 | SACS | c.541A= (p.Lys181=) n.679A= c.532A= (p.Lys178=) n.2898A= c.-1710A= (n.-1710A=) c.239A= c.100A= (p.Lys34=) c.565A= (p.Lys189=) | |
13 | g.23358399T>A | CA387552007 | SACS | c.540A>T (p.Lys180Asn) n.678A>T c.531A>T (p.Lys177Asn) n.2897A>T c.-1711A>T (n.-1711A>T) c.238A>T c.99A>T (p.Lys33Asn) c.564A>T (p.Lys188Asn) | |
13 | g.23358399T>C | CA246680340 | SACS | c.540A>G (p.Lys180=) n.678A>G c.531A>G (p.Lys177=) n.2897A>G c.-1711A>G (n.-1711A>G) c.238A>G c.99A>G (p.Lys33=) c.564A>G (p.Lys188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358399T>G | CA387552008 | SACS | c.540A>C (p.Lys180Asn) n.678A>C c.531A>C (p.Lys177Asn) n.2897A>C c.-1711A>C (n.-1711A>C) c.238A>C c.99A>C (p.Lys33Asn) c.564A>C (p.Lys188Asn) | |
13 | g.23358399T= | CA2078636478 | SACS | c.540A= (p.Lys180=) n.678A= c.531A= (p.Lys177=) n.2897A= c.-1711A= (n.-1711A=) c.238A= c.99A= (p.Lys33=) c.564A= (p.Lys188=) | |
13 | g.23358400T>A | CA387552009 | SACS | c.539A>T (p.Lys180Ile) n.677A>T c.530A>T (p.Lys177Ile) n.2896A>T c.-1712A>T (n.-1712A>T) c.237A>T c.98A>T (p.Lys33Ile) c.563A>T (p.Lys188Ile) | |
13 | g.23358400T>C | CA387552010 | SACS | c.539A>G (p.Lys180Arg) n.677A>G c.530A>G (p.Lys177Arg) n.2896A>G c.-1712A>G (n.-1712A>G) c.237A>G c.98A>G (p.Lys33Arg) c.563A>G (p.Lys188Arg) | |
13 | g.23358400T>G | CA387552011 | SACS | c.539A>C (p.Lys180Thr) n.677A>C c.530A>C (p.Lys177Thr) n.2896A>C c.-1712A>C (n.-1712A>C) c.237A>C c.98A>C (p.Lys33Thr) c.563A>C (p.Lys188Thr) | |
13 | g.23358401T>A | CA387552012 | SACS | c.538A>T (p.Lys180Ter) n.676A>T c.529A>T (p.Lys177Ter) n.2895A>T c.-1713A>T (n.-1713A>T) c.236A>T c.97A>T (p.Lys33Ter) c.562A>T (p.Lys188Ter) | |
13 | g.23358401T>C | CA387552013 | SACS | c.538A>G (p.Lys180Glu) n.676A>G c.529A>G (p.Lys177Glu) n.2895A>G c.-1713A>G (n.-1713A>G) c.236A>G c.97A>G (p.Lys33Glu) c.562A>G (p.Lys188Glu) | |
13 | g.23358401T>G | CA387552014 | SACS | c.538A>C (p.Lys180Gln) n.676A>C c.529A>C (p.Lys177Gln) n.2895A>C c.-1713A>C (n.-1713A>C) c.236A>C c.97A>C (p.Lys33Gln) c.562A>C (p.Lys188Gln) | |
13 | g.23358402C>A | CA387552015 | SACS | c.537G>T (p.Arg179Ser) n.675G>T c.528G>T (p.Arg176Ser) n.2894G>T c.-1714G>T (n.-1714G>T) c.235G>T c.96G>T (p.Arg32Ser) c.561G>T (p.Arg187Ser) | |
13 | g.23358402C>G | CA387552016 | SACS | c.537G>C (p.Arg179Ser) n.675G>C c.528G>C (p.Arg176Ser) n.2894G>C c.-1714G>C (n.-1714G>C) c.235G>C c.96G>C (p.Arg32Ser) c.561G>C (p.Arg187Ser) | |
13 | g.23358402C>T | CA482922157 | SACS | c.537G>A (p.Arg179=) n.675G>A c.528G>A (p.Arg176=) n.2894G>A c.-1714G>A (n.-1714G>A) c.235G>A c.96G>A (p.Arg32=) c.561G>A (p.Arg187=) | |
13 | g.23358403C>A | CA387552019 | SACS | c.536G>T (p.Arg179Met) n.674G>T c.527G>T (p.Arg176Met) n.2893G>T c.-1715G>T (n.-1715G>T) c.234G>T c.95G>T (p.Arg32Met) c.560G>T (p.Arg187Met) | |
13 | g.23358403C>G | CA387552018 | SACS | c.536G>C (p.Arg179Thr) n.674G>C c.527G>C (p.Arg176Thr) n.2893G>C c.-1715G>C (n.-1715G>C) c.234G>C c.95G>C (p.Arg32Thr) c.560G>C (p.Arg187Thr) | |
13 | g.23358403C>T | CA387552017 | SACS | c.536G>A (p.Arg179Lys) n.674G>A c.527G>A (p.Arg176Lys) n.2893G>A c.-1715G>A (n.-1715G>A) c.234G>A c.95G>A (p.Arg32Lys) c.560G>A (p.Arg187Lys) | |
13 | g.23358404T>A | CA387552020 | SACS | c.535A>T (p.Arg179Trp) n.673A>T c.526A>T (p.Arg176Trp) n.2892A>T c.-1716A>T (n.-1716A>T) c.233A>T c.94A>T (p.Arg32Trp) c.559A>T (p.Arg187Trp) | |
13 | g.23358404T>C | CA6912061 | SACS | c.535A>G (p.Arg179Gly) n.673A>G c.526A>G (p.Arg176Gly) n.2892A>G c.-1716A>G (n.-1716A>G) c.233A>G c.94A>G (p.Arg32Gly) c.559A>G (p.Arg187Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.23358404T>G | CA482922163 | SACS | c.535A>C (p.Arg179=) n.673A>C c.526A>C (p.Arg176=) n.2892A>C c.-1716A>C (n.-1716A>C) c.233A>C c.94A>C (p.Arg32=) c.559A>C (p.Arg187=) | |
13 | g.23358404T= | CA2078636481 | SACS | c.535A= (p.Arg179=) n.673A= c.526A= (p.Arg176=) n.2892A= c.-1716A= (n.-1716A=) c.233A= c.94A= (p.Arg32=) c.559A= (p.Arg187=) | |
13 | g.23358405G>A | CA482922165 | SACS | c.534C>T (p.Ser178=) n.672C>T c.525C>T (p.Ser175=) n.2891C>T c.-1717C>T (n.-1717C>T) c.232C>T c.93C>T (p.Ser31=) c.558C>T (p.Ser186=) | |
13 | g.23358405G>C | CA387552021 | SACS | c.534C>G (p.Ser178Arg) n.672C>G c.525C>G (p.Ser175Arg) n.2891C>G c.-1717C>G (n.-1717C>G) c.232C>G c.93C>G (p.Ser31Arg) c.558C>G (p.Ser186Arg) | |
13 | g.23358405G>T | CA387552022 | SACS | c.534C>A (p.Ser178Arg) n.672C>A c.525C>A (p.Ser175Arg) n.2891C>A c.-1717C>A (n.-1717C>A) c.232C>A c.93C>A (p.Ser31Arg) c.558C>A (p.Ser186Arg) | |
13 | g.23358406C>A | CA387552023 | SACS | c.533G>T (p.Ser178Ile) n.671G>T c.524G>T (p.Ser175Ile) n.2890G>T c.-1718G>T (n.-1718G>T) c.231G>T c.92G>T (p.Ser31Ile) c.557G>T (p.Ser186Ile) | |
13 | g.23358406C>G | CA387552024 | SACS | c.533G>C (p.Ser178Thr) n.671G>C c.524G>C (p.Ser175Thr) n.2890G>C c.-1718G>C (n.-1718G>C) c.231G>C c.92G>C (p.Ser31Thr) c.557G>C (p.Ser186Thr) | |
13 | g.23358406C>T | CA387552025 | SACS | c.533G>A (p.Ser178Asn) n.671G>A c.524G>A (p.Ser175Asn) n.2890G>A c.-1718G>A (n.-1718G>A) c.231G>A c.92G>A (p.Ser31Asn) c.557G>A (p.Ser186Asn) | gnomAD v4 |
13 | g.23358407T>A | CA387552026 | SACS | c.532A>T (p.Ser178Cys) n.670A>T c.523A>T (p.Ser175Cys) n.2889A>T c.-1719A>T (n.-1719A>T) c.230A>T c.91A>T (p.Ser31Cys) c.556A>T (p.Ser186Cys) | |
13 | g.23358407T>C | CA387552027 | SACS | c.532A>G (p.Ser178Gly) n.670A>G c.523A>G (p.Ser175Gly) n.2889A>G c.-1719A>G (n.-1719A>G) c.230A>G c.91A>G (p.Ser31Gly) c.556A>G (p.Ser186Gly) | |
13 | g.23358407T>G | CA387552028 | SACS | c.532A>C (p.Ser178Arg) n.670A>C c.523A>C (p.Ser175Arg) n.2889A>C c.-1719A>C (n.-1719A>C) c.230A>C c.91A>C (p.Ser31Arg) c.556A>C (p.Ser186Arg) | |
13 | g.23358408T>A | CA387552029 | SACS | c.531A>T (p.Arg177Ser) n.669A>T c.522A>T (p.Arg174Ser) n.2888A>T c.-1720A>T (n.-1720A>T) c.229A>T c.90A>T (p.Arg30Ser) c.555A>T (p.Arg185Ser) | |
13 | g.23358408T>C | CA482922177 | SACS | c.531A>G (p.Arg177=) n.669A>G c.522A>G (p.Arg174=) n.2888A>G c.-1720A>G (n.-1720A>G) c.229A>G c.90A>G (p.Arg30=) c.555A>G (p.Arg185=) | gnomAD v4 |
13 | g.23358408T>G | CA387552030 | SACS | c.531A>C (p.Arg177Ser) n.669A>C c.522A>C (p.Arg174Ser) n.2888A>C c.-1720A>C (n.-1720A>C) c.229A>C c.90A>C (p.Arg30Ser) c.555A>C (p.Arg185Ser) | |
13 | g.23358409C>A | CA387552033 | SACS | c.530G>T (p.Arg177Ile) n.668G>T c.521G>T (p.Arg174Ile) n.2887G>T c.-1721G>T (n.-1721G>T) c.228G>T c.89G>T (p.Arg30Ile) c.554G>T (p.Arg185Ile) | |
13 | g.23358409C>G | CA387552032 | SACS | c.530G>C (p.Arg177Thr) n.668G>C c.521G>C (p.Arg174Thr) n.2887G>C c.-1721G>C (n.-1721G>C) c.228G>C c.89G>C (p.Arg30Thr) c.554G>C (p.Arg185Thr) | |
13 | g.23358409C>T | CA387552031 | SACS | c.530G>A (p.Arg177Lys) n.668G>A c.521G>A (p.Arg174Lys) n.2887G>A c.-1721G>A (n.-1721G>A) c.228G>A c.89G>A (p.Arg30Lys) c.554G>A (p.Arg185Lys) | |
13 | g.23358410T>A | CA387552034 | SACS | c.529A>T (p.Arg177Ter) n.667A>T c.520A>T (p.Arg174Ter) n.2886A>T c.-1722A>T (n.-1722A>T) c.227A>T c.88A>T (p.Arg30Ter) c.553A>T (p.Arg185Ter) | ClinVar |
13 | g.23358410T>C | CA387552035 | SACS | c.529A>G (p.Arg177Gly) n.667A>G c.520A>G (p.Arg174Gly) n.2886A>G c.-1722A>G (n.-1722A>G) c.227A>G c.88A>G (p.Arg30Gly) c.553A>G (p.Arg185Gly) | |
13 | g.23358410T>G | CA482922185 | SACS | c.529A>C (p.Arg177=) n.667A>C c.520A>C (p.Arg174=) n.2886A>C c.-1722A>C (n.-1722A>C) c.227A>C c.88A>C (p.Arg30=) c.553A>C (p.Arg185=) | |
13 | g.23358411T>A | CA482922193 | SACS | c.528A>T (p.Ala176=) n.666A>T c.519A>T (p.Ala173=) n.2885A>T c.-1723A>T (n.-1723A>T) c.226A>T c.87A>T (p.Ala29=) c.552A>T (p.Ala184=) | |
13 | g.23358411T>C | CA482922195 | SACS | c.528A>G (p.Ala176=) n.666A>G c.519A>G (p.Ala173=) n.2885A>G c.-1723A>G (n.-1723A>G) c.226A>G c.87A>G (p.Ala29=) c.552A>G (p.Ala184=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.23358411T>G | CA482922197 | SACS | c.528A>C (p.Ala176=) n.666A>C c.519A>C (p.Ala173=) n.2885A>C c.-1723A>C (n.-1723A>C) c.226A>C c.87A>C (p.Ala29=) c.552A>C (p.Ala184=) | |
13 | g.23358411T= | CA2078636484 | SACS | c.528A= (p.Ala176=) n.666A= c.519A= (p.Ala173=) n.2885A= c.-1723A= (n.-1723A=) c.226A= c.87A= (p.Ala29=) c.552A= (p.Ala184=) | |
13 | g.23358412G>A | CA387552036 | SACS | c.527C>T (p.Ala176Val) n.665C>T c.518C>T (p.Ala173Val) n.2884C>T c.-1724C>T (n.-1724C>T) c.225C>T c.86C>T (p.Ala29Val) c.551C>T (p.Ala184Val) | |
13 | g.23358412G>C | CA387552037 | SACS | c.527C>G (p.Ala176Gly) n.665C>G c.518C>G (p.Ala173Gly) n.2884C>G c.-1724C>G (n.-1724C>G) c.225C>G c.86C>G (p.Ala29Gly) c.551C>G (p.Ala184Gly) | |
13 | g.23358412G>T | CA387552038 | SACS | c.527C>A (p.Ala176Glu) n.665C>A c.518C>A (p.Ala173Glu) n.2884C>A c.-1724C>A (n.-1724C>A) c.225C>A c.86C>A (p.Ala29Glu) c.551C>A (p.Ala184Glu) | |
13 | g.23358413C>A | CA387552039 | SACS | c.526G>T (p.Ala176Ser) n.664G>T c.517G>T (p.Ala173Ser) n.2883G>T c.-1725G>T (n.-1725G>T) c.224G>T c.85G>T (p.Ala29Ser) c.550G>T (p.Ala184Ser) | |
13 | g.23358413C>G | CA387552040 | SACS | c.526G>C (p.Ala176Pro) n.664G>C c.517G>C (p.Ala173Pro) n.2883G>C c.-1725G>C (n.-1725G>C) c.224G>C c.85G>C (p.Ala29Pro) c.550G>C (p.Ala184Pro) | |
13 | g.23358413C>T | CA387552041 | SACS | c.526G>A (p.Ala176Thr) n.664G>A c.517G>A (p.Ala173Thr) n.2883G>A c.-1725G>A (n.-1725G>A) c.224G>A c.85G>A (p.Ala29Thr) c.550G>A (p.Ala184Thr) | |
13 | g.23358414T>A | CA482922203 | SACS | c.525A>T (p.Ile175=) n.663A>T c.516A>T (p.Ile172=) n.2882A>T c.-1726A>T (n.-1726A>T) c.223A>T c.84A>T (p.Ile28=) c.549A>T (p.Ile183=) | |
13 | g.23358414T>C | CA387552042 | SACS | c.525A>G (p.Ile175Met) n.663A>G c.516A>G (p.Ile172Met) n.2882A>G c.-1726A>G (n.-1726A>G) c.223A>G c.84A>G (p.Ile28Met) c.549A>G (p.Ile183Met) | |
13 | g.23358414T>G | CA482922206 | SACS | c.525A>C (p.Ile175=) n.663A>C c.516A>C (p.Ile172=) n.2882A>C c.-1726A>C (n.-1726A>C) c.223A>C c.84A>C (p.Ile28=) c.549A>C (p.Ile183=) | |
13 | g.23358415A>C | CA387552043 | SACS | c.524T>G (p.Ile175Arg) n.662T>G c.515T>G (p.Ile172Arg) n.2881T>G c.-1727T>G (n.-1727T>G) c.222T>G c.83T>G (p.Ile28Arg) c.548T>G (p.Ile183Arg) | |
13 | g.23358415A>G | CA387552044 | SACS | c.524T>C (p.Ile175Thr) n.662T>C c.515T>C (p.Ile172Thr) n.2881T>C c.-1727T>C (n.-1727T>C) c.222T>C c.83T>C (p.Ile28Thr) c.548T>C (p.Ile183Thr) | |
13 | g.23358415A>T | CA387552045 | SACS | c.524T>A (p.Ile175Lys) n.662T>A c.515T>A (p.Ile172Lys) n.2881T>A c.-1727T>A (n.-1727T>A) c.222T>A c.83T>A (p.Ile28Lys) c.548T>A (p.Ile183Lys) | |
13 | g.23358416T>A | CA387552048 | SACS | c.523A>T (p.Ile175Leu) n.661A>T c.514A>T (p.Ile172Leu) n.2880A>T c.-1728A>T (n.-1728A>T) c.221A>T c.82A>T (p.Ile28Leu) c.547A>T (p.Ile183Leu) | |
13 | g.23358416T>C | CA387552047 | SACS | c.523A>G (p.Ile175Val) n.661A>G c.514A>G (p.Ile172Val) n.2880A>G c.-1728A>G (n.-1728A>G) c.221A>G c.82A>G (p.Ile28Val) c.547A>G (p.Ile183Val) | |
13 | g.23358416T>G | CA387552046 | SACS | c.523A>C (p.Ile175Leu) n.661A>C c.514A>C (p.Ile172Leu) n.2880A>C c.-1728A>C (n.-1728A>C) c.221A>C c.82A>C (p.Ile28Leu) c.547A>C (p.Ile183Leu) | |
13 | g.23358417T>A | CA387552049 | SACS | c.522A>T (p.Glu174Asp) n.660A>T c.513A>T (p.Glu171Asp) n.2879A>T c.-1729A>T (n.-1729A>T) c.220A>T c.81A>T (p.Glu27Asp) c.546A>T (p.Glu182Asp) | |
13 | g.23358417T>C | CA482922223 | SACS | c.522A>G (p.Glu174=) n.660A>G c.513A>G (p.Glu171=) n.2879A>G c.-1729A>G (n.-1729A>G) c.220A>G c.81A>G (p.Glu27=) c.546A>G (p.Glu182=) | |
13 | g.23358417T>G | CA387552050 | SACS | c.522A>C (p.Glu174Asp) n.660A>C c.513A>C (p.Glu171Asp) n.2879A>C c.-1729A>C (n.-1729A>C) c.220A>C c.81A>C (p.Glu27Asp) c.546A>C (p.Glu182Asp) | |
13 | g.23358417_23358418insAGAAAATATTATA | CA2518850541 | SACS | c.521_522insTATAATATTTTCT (p.Glu174AspfsTer14) n.659_660insTATAATATTTTCT c.512_513insTATAATATTTTCT (p.Glu171AspfsTer14) n.2878_2879insTATAATATTTTCT c.-1730_-1729insTATAATATTTTCT (n.-1730_-1729insTATAATATTTTCT) c.219_220insTATAATATTTTCT c.80_81insTATAATATTTTCT (p.Glu27AspfsTer14) c.545_546insTATAATATTTTCT (p.Glu182AspfsTer14) | |
13 | g.23358418T>A | CA387552051 | SACS | c.521A>T (p.Glu174Val) n.659A>T c.512A>T (p.Glu171Val) n.2878A>T c.-1730A>T (n.-1730A>T) c.219A>T c.80A>T (p.Glu27Val) c.545A>T (p.Glu182Val) | |
13 | g.23358418T>C | CA387552052 | SACS | c.521A>G (p.Glu174Gly) n.659A>G c.512A>G (p.Glu171Gly) n.2878A>G c.-1730A>G (n.-1730A>G) c.219A>G c.80A>G (p.Glu27Gly) c.545A>G (p.Glu182Gly) | |
13 | g.23358418T>G | CA387552053 | SACS | c.521A>C (p.Glu174Ala) n.659A>C c.512A>C (p.Glu171Ala) n.2878A>C c.-1730A>C (n.-1730A>C) c.219A>C c.80A>C (p.Glu27Ala) c.545A>C (p.Glu182Ala) | |
13 | g.23358419C>A | CA387552054 | SACS | c.520G>T (p.Glu174Ter) n.658G>T c.511G>T (p.Glu171Ter) n.2877G>T c.-1731G>T (n.-1731G>T) c.218G>T c.79G>T (p.Glu27Ter) c.544G>T (p.Glu182Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.23358419C>G | CA387552055 | SACS | c.520G>C (p.Glu174Gln) n.658G>C c.511G>C (p.Glu171Gln) n.2877G>C c.-1731G>C (n.-1731G>C) c.218G>C c.79G>C (p.Glu27Gln) c.544G>C (p.Glu182Gln) | |
13 | g.23358419C>T | CA387552056 | SACS | c.520G>A (p.Glu174Lys) n.658G>A c.511G>A (p.Glu171Lys) n.2877G>A c.-1731G>A (n.-1731G>A) c.218G>A c.79G>A (p.Glu27Lys) c.544G>A (p.Glu182Lys) | |
13 | g.23358420T>A | CA387552057 | SACS | c.519A>T (p.Gln173His) n.657A>T c.510A>T (p.Gln170His) n.2876A>T c.-1732A>T (n.-1732A>T) c.217A>T c.78A>T (p.Gln26His) c.543A>T (p.Gln181His) | |
13 | g.23358420T>C | CA482922236 | SACS | c.519A>G (p.Gln173=) n.657A>G c.510A>G (p.Gln170=) n.2876A>G c.-1732A>G (n.-1732A>G) c.217A>G c.78A>G (p.Gln26=) c.543A>G (p.Gln181=) | ClinVar COSMIC COSMIC |
13 | g.23358420T>G | CA387552058 | SACS | c.519A>C (p.Gln173His) n.657A>C c.510A>C (p.Gln170His) n.2876A>C c.-1732A>C (n.-1732A>C) c.217A>C c.78A>C (p.Gln26His) c.543A>C (p.Gln181His) | |
13 | g.23358421T>A | CA387552059 | SACS | c.518A>T (p.Gln173Leu) n.656A>T c.509A>T (p.Gln170Leu) n.2875A>T c.-1733A>T (n.-1733A>T) c.216A>T c.77A>T (p.Gln26Leu) c.542A>T (p.Gln181Leu) | |
13 | g.23358421T>C | CA387552060 | SACS | c.518A>G (p.Gln173Arg) n.656A>G c.509A>G (p.Gln170Arg) n.2875A>G c.-1733A>G (n.-1733A>G) c.216A>G c.77A>G (p.Gln26Arg) c.542A>G (p.Gln181Arg) | |
13 | g.23358421T>G | CA387552061 | SACS | c.518A>C (p.Gln173Pro) n.656A>C c.509A>C (p.Gln170Pro) n.2875A>C c.-1733A>C (n.-1733A>C) c.216A>C c.77A>C (p.Gln26Pro) c.542A>C (p.Gln181Pro) | |
13 | g.23358421_23358422insACATTCT | CA2529349850 | SACS | c.518_519insGAATGTA (p.Glu174AsnfsTer12) n.656_657insGAATGTA c.509_510insGAATGTA (p.Glu171AsnfsTer12) n.2875_2876insGAATGTA c.-1733_-1732insGAATGTA (n.-1733_-1732insGAATGTA) c.216_217insGAATGTA c.77_78insGAATGTA (p.Glu27AsnfsTer12) c.542_543insGAATGTA (p.Glu182AsnfsTer12) | |
13 | g.23358422G>A | CA387552062 | SACS | c.517C>T (p.Gln173Ter) n.655C>T c.508C>T (p.Gln170Ter) n.2874C>T c.-1734C>T (n.-1734C>T) c.215C>T c.76C>T (p.Gln26Ter) c.541C>T (p.Gln181Ter) | ClinVar dbSNP |
13 | g.23358422G>C | CA387552063 | SACS | c.517C>G (p.Gln173Glu) n.655C>G c.508C>G (p.Gln170Glu) n.2874C>G c.-1734C>G (n.-1734C>G) c.215C>G c.76C>G (p.Gln26Glu) c.541C>G (p.Gln181Glu) | |
13 | g.23358422G= | CA2078636488 | SACS | c.517C= (p.Gln173=) n.655C= c.508C= (p.Gln170=) n.2874C= c.-1734C= (n.-1734C=) c.215C= c.76C= (p.Gln26=) c.541C= (p.Gln181=) | |
13 | g.23358422G>T | CA387552064 | SACS | c.517C>A (p.Gln173Lys) n.655C>A c.508C>A (p.Gln170Lys) n.2874C>A c.-1734C>A (n.-1734C>A) c.215C>A c.76C>A (p.Gln26Lys) c.541C>A (p.Gln181Lys) | |
13 | g.23358422_23358423insT | CA2563069573 | SACS | c.516_517insA (p.Gln173ThrfsTer11) n.654_655insA c.507_508insA (p.Gln170ThrfsTer11) n.2873_2874insA c.-1735_-1734insA (n.-1735_-1734insA) c.214_215insA c.75_76insA (p.Gln26ThrfsTer11) c.540_541insA (p.Gln181ThrfsTer11) | |
13 | g.23358423A>C | CA387552065 | SACS | c.516T>G (p.Ile172Met) n.654T>G c.507T>G (p.Ile169Met) n.2873T>G c.-1735T>G (n.-1735T>G) c.214T>G c.75T>G (p.Ile25Met) c.540T>G (p.Ile180Met) | |
13 | g.23358423A>G | CA482922253 | SACS | c.516T>C (p.Ile172=) n.654T>C c.507T>C (p.Ile169=) n.2873T>C c.-1735T>C (n.-1735T>C) c.214T>C c.75T>C (p.Ile25=) c.540T>C (p.Ile180=) | |
13 | g.23358423A>T | CA482922256 | SACS | c.516T>A (p.Ile172=) n.654T>A c.507T>A (p.Ile169=) n.2873T>A c.-1735T>A (n.-1735T>A) c.214T>A c.75T>A (p.Ile25=) c.540T>A (p.Ile180=) | |
13 | g.23358424A>C | CA387552066 | SACS | c.515T>G (p.Ile172Ser) n.653T>G c.506T>G (p.Ile169Ser) n.2872T>G c.-1736T>G (n.-1736T>G) c.213T>G c.74T>G (p.Ile25Ser) c.539T>G (p.Ile180Ser) | |
13 | g.23358424A>G | CA387552067 | SACS | c.515T>C (p.Ile172Thr) n.653T>C c.506T>C (p.Ile169Thr) n.2872T>C c.-1736T>C (n.-1736T>C) c.213T>C c.74T>C (p.Ile25Thr) c.539T>C (p.Ile180Thr) | |
13 | g.23358424A>T | CA387552068 | SACS | c.515T>A (p.Ile172Asn) n.653T>A c.506T>A (p.Ile169Asn) n.2872T>A c.-1736T>A (n.-1736T>A) c.213T>A c.74T>A (p.Ile25Asn) c.539T>A (p.Ile180Asn) | |
13 | g.23358425T>A | CA387552069 | SACS | c.514A>T (p.Ile172Phe) n.652A>T c.505A>T (p.Ile169Phe) n.2871A>T c.-1737A>T (n.-1737A>T) c.212A>T c.73A>T (p.Ile25Phe) c.538A>T (p.Ile180Phe) | |
13 | g.23358425T>C | CA387552070 | SACS | c.514A>G (p.Ile172Val) n.652A>G c.505A>G (p.Ile169Val) n.2871A>G c.-1737A>G (n.-1737A>G) c.212A>G c.73A>G (p.Ile25Val) c.538A>G (p.Ile180Val) | |
13 | g.23358425T>G | CA387552071 | SACS | c.514A>C (p.Ile172Leu) n.652A>C c.505A>C (p.Ile169Leu) n.2871A>C c.-1737A>C (n.-1737A>C) c.212A>C c.73A>C (p.Ile25Leu) c.538A>C (p.Ile180Leu) | |
13 | g.23358426G>A | CA482922267 | SACS | c.513C>T (p.Gly171=) n.651C>T c.504C>T (p.Gly168=) n.2870C>T c.-1738C>T (n.-1738C>T) c.211C>T c.72C>T (p.Gly24=) c.537C>T (p.Gly179=) | |
13 | g.23358426G>C | CA482922265 | SACS | c.513C>G (p.Gly171=) n.651C>G c.504C>G (p.Gly168=) n.2870C>G c.-1738C>G (n.-1738C>G) c.211C>G c.72C>G (p.Gly24=) c.537C>G (p.Gly179=) | |
13 | g.23358426G>T | CA482922264 | SACS | c.513C>A (p.Gly171=) n.651C>A c.504C>A (p.Gly168=) n.2870C>A c.-1738C>A (n.-1738C>A) c.211C>A c.72C>A (p.Gly24=) c.537C>A (p.Gly179=) | COSMIC COSMIC |
13 | g.23358427C>A | CA387552072 | SACS | c.512G>T (p.Gly171Val) n.650G>T c.503G>T (p.Gly168Val) n.2869G>T c.-1739G>T (n.-1739G>T) c.210G>T c.71G>T (p.Gly24Val) c.536G>T (p.Gly179Val) | COSMIC |
13 | g.23358427C= | CA2078636492 | SACS | c.512G= (p.Gly171=) n.650G= c.503G= (p.Gly168=) n.2869G= c.-1739G= (n.-1739G=) c.210G= c.71G= (p.Gly24=) c.536G= (p.Gly179=) | |
13 | g.23358427C>G | CA387552073 | SACS | c.512G>C (p.Gly171Ala) n.650G>C c.503G>C (p.Gly168Ala) n.2869G>C c.-1739G>C (n.-1739G>C) c.210G>C c.71G>C (p.Gly24Ala) c.536G>C (p.Gly179Ala) | |
13 | g.23358427C>T | CA246680344 | SACS | c.512G>A (p.Gly171Asp) n.650G>A c.503G>A (p.Gly168Asp) n.2869G>A c.-1739G>A (n.-1739G>A) c.210G>A c.71G>A (p.Gly24Asp) c.536G>A (p.Gly179Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358428C>A | CA387552074 | SACS | c.511G>T (p.Gly171Cys) n.649G>T c.502G>T (p.Gly168Cys) n.2868G>T c.-1740G>T (n.-1740G>T) c.209G>T c.70G>T (p.Gly24Cys) c.535G>T (p.Gly179Cys) | |
13 | g.23358428C= | CA2078636496 | SACS | c.511G= (p.Gly171=) n.649G= c.502G= (p.Gly168=) n.2868G= c.-1740G= (n.-1740G=) c.209G= c.70G= (p.Gly24=) c.535G= (p.Gly179=) | |
13 | g.23358428C>G | CA387552075 | SACS | c.511G>C (p.Gly171Arg) n.649G>C c.502G>C (p.Gly168Arg) n.2868G>C c.-1740G>C (n.-1740G>C) c.209G>C c.70G>C (p.Gly24Arg) c.535G>C (p.Gly179Arg) | |
13 | g.23358428C>T | CA387552076 | SACS | c.511G>A (p.Gly171Ser) n.649G>A c.502G>A (p.Gly168Ser) n.2868G>A c.-1740G>A (n.-1740G>A) c.209G>A c.70G>A (p.Gly24Ser) c.535G>A (p.Gly179Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.23358429G>A | CA6912062 | SACS | c.510C>T (p.His170=) n.648C>T c.501C>T (p.His167=) n.2867C>T c.-1741C>T (n.-1741C>T) c.208C>T c.69C>T (p.His23=) c.534C>T (p.His178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.23358429G>C | CA387552078 | SACS | c.510C>G (p.His170Gln) n.648C>G c.501C>G (p.His167Gln) n.2867C>G c.-1741C>G (n.-1741C>G) c.208C>G c.69C>G (p.His23Gln) c.534C>G (p.His178Gln) | |
13 | g.23358429G= | CA2078636499 | SACS | c.510C= (p.His170=) n.648C= c.501C= (p.His167=) n.2867C= c.-1741C= (n.-1741C=) c.208C= c.69C= (p.His23=) c.534C= (p.His178=) | |
13 | g.23358429G>T | CA387552077 | SACS | c.510C>A (p.His170Gln) n.648C>A c.501C>A (p.His167Gln) n.2867C>A c.-1741C>A (n.-1741C>A) c.208C>A c.69C>A (p.His23Gln) c.534C>A (p.His178Gln) | |
13 | g.23358432_23358447del | CA2622331459 | SACS | c.495_510del (p.Pro166AlafsTer5) n.633_648del c.486_501del (p.Pro163AlafsTer5) n.2852_2867del c.-1756_-1741del (n.-1756_-1741del) c.193_208del c.54_69del (p.Pro19AlafsTer5) c.519_534del (p.Pro174AlafsTer5) | gnomAD v4 |
13 | g.23358430T>A | CA387552079 | SACS | c.509A>T (p.His170Leu) n.647A>T c.500A>T (p.His167Leu) n.2866A>T c.-1742A>T (n.-1742A>T) c.207A>T c.68A>T (p.His23Leu) c.533A>T (p.His178Leu) | |
13 | g.23358430T>C | CA387552080 | SACS | c.509A>G (p.His170Arg) n.647A>G c.500A>G (p.His167Arg) n.2866A>G c.-1742A>G (n.-1742A>G) c.207A>G c.68A>G (p.His23Arg) c.533A>G (p.His178Arg) | |
13 | g.23358430T>G | CA387552081 | SACS | c.509A>C (p.His170Pro) n.647A>C c.500A>C (p.His167Pro) n.2866A>C c.-1742A>C (n.-1742A>C) c.207A>C c.68A>C (p.His23Pro) c.533A>C (p.His178Pro) | |
13 | g.23358431G>A | CA387552082 | SACS | c.508C>T (p.His170Tyr) n.646C>T c.499C>T (p.His167Tyr) n.2865C>T c.-1743C>T (n.-1743C>T) c.206C>T c.67C>T (p.His23Tyr) c.532C>T (p.His178Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.23358431G>C | CA387552083 | SACS | c.508C>G (p.His170Asp) n.646C>G c.499C>G (p.His167Asp) n.2865C>G c.-1743C>G (n.-1743C>G) c.206C>G c.67C>G (p.His23Asp) c.532C>G (p.His178Asp) | |
13 | g.23358431G= | CA2078636503 | SACS | c.508C= (p.His170=) n.646C= c.499C= (p.His167=) n.2865C= c.-1743C= (n.-1743C=) c.206C= c.67C= (p.His23=) c.532C= (p.His178=) | |
13 | g.23358431G>T | CA387552084 | SACS | c.508C>A (p.His170Asn) n.646C>A c.499C>A (p.His167Asn) n.2865C>A c.-1743C>A (n.-1743C>A) c.206C>A c.67C>A (p.His23Asn) c.532C>A (p.His178Asn) | |
13 | g.23358432C>A | CA387552085 | SACS | c.507G>T (p.Trp169Cys) n.645G>T c.498G>T (p.Trp166Cys) n.2864G>T c.-1744G>T (n.-1744G>T) c.205G>T c.66G>T (p.Trp22Cys) c.531G>T (p.Trp177Cys) | |
13 | g.23358432C>G | CA387552086 | SACS | c.507G>C (p.Trp169Cys) n.645G>C c.498G>C (p.Trp166Cys) n.2864G>C c.-1744G>C (n.-1744G>C) c.205G>C c.66G>C (p.Trp22Cys) c.531G>C (p.Trp177Cys) | |
13 | g.23358432C>T | CA387552087 | SACS | c.507G>A (p.Trp169Ter) n.645G>A c.498G>A (p.Trp166Ter) n.2864G>A c.-1744G>A (n.-1744G>A) c.205G>A c.66G>A (p.Trp22Ter) c.531G>A (p.Trp177Ter) | gnomAD v4 |
13 | g.23358433del | CA2622331460 | SACS | c.507del (p.Trp169CysfsTer7) n.645del c.498del (p.Trp166CysfsTer7) n.2864del c.-1744del (n.-1744del) c.205del c.66del (p.Trp22CysfsTer7) c.531del (p.Trp177CysfsTer7) | gnomAD v4 |
13 | g.23358433C>A | CA387552088 | SACS | c.506G>T (p.Trp169Leu) n.644G>T c.497G>T (p.Trp166Leu) n.2863G>T c.-1745G>T (n.-1745G>T) c.204G>T c.65G>T (p.Trp22Leu) c.530G>T (p.Trp177Leu) | |
13 | g.23358433C>G | CA387552089 | SACS | c.506G>C (p.Trp169Ser) n.644G>C c.497G>C (p.Trp166Ser) n.2863G>C c.-1745G>C (n.-1745G>C) c.204G>C c.65G>C (p.Trp22Ser) c.530G>C (p.Trp177Ser) | |
13 | g.23358433C>T | CA387552090 | SACS | c.506G>A (p.Trp169Ter) n.644G>A c.497G>A (p.Trp166Ter) n.2863G>A c.-1745G>A (n.-1745G>A) c.204G>A c.65G>A (p.Trp22Ter) c.530G>A (p.Trp177Ter) | |
13 | g.23358434A>C | CA387552092 | SACS | c.505T>G (p.Trp169Gly) n.643T>G c.496T>G (p.Trp166Gly) n.2862T>G c.-1746T>G (n.-1746T>G) c.203T>G c.64T>G (p.Trp22Gly) c.529T>G (p.Trp177Gly) | |
13 | g.23358434A>G | CA387552093 | SACS | c.505T>C (p.Trp169Arg) n.643T>C c.496T>C (p.Trp166Arg) n.2862T>C c.-1746T>C (n.-1746T>C) c.203T>C c.64T>C (p.Trp22Arg) c.529T>C (p.Trp177Arg) | |
13 | g.23358434A>T | CA387552091 | SACS | c.505T>A (p.Trp169Arg) n.643T>A c.496T>A (p.Trp166Arg) n.2862T>A c.-1746T>A (n.-1746T>A) c.203T>A c.64T>A (p.Trp22Arg) c.529T>A (p.Trp177Arg) |