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