| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |