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