Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.201075535A= | CA1219574466 | CACNA1S | c.1908T= (p.Leu636=) c.*1071T= (n.*1071T=) | |
1 | g.201075535A>C | CA422689037 | CACNA1S | c.1908T>G (p.Leu636=) c.*1071T>G (n.*1071T>G) | |
1 | g.201075535A>G | CA422689036 | CACNA1S | c.1908T>C (p.Leu636=) c.*1071T>C (n.*1071T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075535A>T | CA422689038 | CACNA1S | c.1908T>A (p.Leu636=) c.*1071T>A (n.*1071T>A) | |
1 | g.201075536A= | CA1219574470 | CACNA1S | c.1907T= (p.Leu636=) c.*1070T= (n.*1070T=) | |
1 | g.201075536A>C | CA344116771 | CACNA1S | c.1907T>G (p.Leu636Arg) c.*1070T>G (n.*1070T>G) | |
1 | g.201075536A>G | CA344116772 | CACNA1S | c.1907T>C (p.Leu636Pro) c.*1070T>C (n.*1070T>C) | dbSNP |
1 | g.201075536A>T | CA344116773 | CACNA1S | c.1907T>A (p.Leu636His) c.*1070T>A (n.*1070T>A) | gnomAD v4 |
1 | g.201075537G>A | CA344116774 | CACNA1S | c.1906C>T (p.Leu636Phe) c.*1069C>T (n.*1069C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075537G>C | CA344116776 | CACNA1S | c.1906C>G (p.Leu636Val) c.*1069C>G (n.*1069C>G) | dbSNP gnomAD v4 |
1 | g.201075537G= | CA1219574473 | CACNA1S | c.1906C= (p.Leu636=) c.*1069C= (n.*1069C=) | |
1 | g.201075537G>T | CA344116779 | CACNA1S | c.1906C>A (p.Leu636Ile) c.*1069C>A (n.*1069C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075538C>A | CA344116791 | CACNA1S | c.1905G>T (p.Met635Ile) c.*1068G>T (n.*1068G>T) | dbSNP gnomAD v4 |
1 | g.201075538C= | CA1219574477 | CACNA1S | c.1905G= (p.Met635=) c.*1068G= (n.*1068G=) | |
1 | g.201075538C>G | CA344116797 | CACNA1S | c.1905G>C (p.Met635Ile) c.*1068G>C (n.*1068G>C) | |
1 | g.201075538C>T | CA078664 | CACNA1S | c.1905G>A (p.Met635Ile) c.*1068G>A (n.*1068G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075539A= | CA1142000978 | CACNA1S | c.1904T= (p.Met635=) c.*1067T= (n.*1067T=) | |
1 | g.201075539A>C | CA344116800 | CACNA1S | c.1904T>G (p.Met635Arg) c.*1067T>G (n.*1067T>G) | gnomAD v4 |
1 | g.201075539A>G | CA078661 | CACNA1S | c.1904T>C (p.Met635Thr) c.*1067T>C (n.*1067T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075539A>T | CA078659 | CACNA1S | c.1904T>A (p.Met635Lys) c.*1067T>A (n.*1067T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075540T>A | CA344116803 | CACNA1S | c.1903A>T (p.Met635Leu) c.*1066A>T (n.*1066A>T) | dbSNP |
1 | g.201075540T>C | CA078658 | CACNA1S | c.1903A>G (p.Met635Val) c.*1066A>G (n.*1066A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075540T>G | CA344116804 | CACNA1S | c.1903A>C (p.Met635Leu) c.*1066A>C (n.*1066A>C) | |
1 | g.201075540T= | CA1143506246 | CACNA1S | c.1903A= (p.Met635=) c.*1066A= (n.*1066A=) | |
1 | g.201075541G>A | CA422689040 | CACNA1S | c.1902C>T (p.Gly634=) c.*1065C>T (n.*1065C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075541G>C | CA422689039 | CACNA1S | c.1902C>G (p.Gly634=) c.*1065C>G (n.*1065C>G) | |
1 | g.201075541G= | CA1219574498 | CACNA1S | c.1902C= (p.Gly634=) c.*1065C= (n.*1065C=) | |
1 | g.201075541G>T | CA422689041 | CACNA1S | c.1902C>A (p.Gly634=) c.*1065C>A (n.*1065C>A) | |
1 | g.201075542C>A | CA344116807 | CACNA1S | c.1901G>T (p.Gly634Val) c.*1064G>T (n.*1064G>T) | |
1 | g.201075542C>G | CA344116808 | CACNA1S | c.1901G>C (p.Gly634Ala) c.*1064G>C (n.*1064G>C) | |
1 | g.201075542C>T | CA344116809 | CACNA1S | c.1901G>A (p.Gly634Asp) c.*1064G>A (n.*1064G>A) | |
1 | g.201075543C>A | CA344116810 | CACNA1S | c.1900G>T (p.Gly634Cys) c.*1063G>T (n.*1063G>T) | |
1 | g.201075543C= | CA1219574502 | CACNA1S | c.1900G= (p.Gly634=) c.*1063G= (n.*1063G=) | |
1 | g.201075543C>G | CA344116813 | CACNA1S | c.1900G>C (p.Gly634Arg) c.*1063G>C (n.*1063G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075543C>T | CA344116815 | CACNA1S | c.1900G>A (p.Gly634Ser) c.*1063G>A (n.*1063G>A) | |
1 | g.201075544A= | CA1219574504 | CACNA1S | c.1899T= (p.Pro633=) c.*1062T= (n.*1062T=) | |
1 | g.201075544A>C | CA422689042 | CACNA1S | c.1899T>G (p.Pro633=) c.*1062T>G (n.*1062T>G) | |
1 | g.201075544A>G | CA422689043 | CACNA1S | c.1899T>C (p.Pro633=) c.*1062T>C (n.*1062T>C) | dbSNP gnomAD v4 |
1 | g.201075544A>T | CA422689044 | CACNA1S | c.1899T>A (p.Pro633=) c.*1062T>A (n.*1062T>A) | |
1 | g.201075545G>A | CA344116819 | CACNA1S | c.1898C>T (p.Pro633Leu) c.*1061C>T (n.*1061C>T) | |
1 | g.201075545G>C | CA078654 | CACNA1S | c.1898C>G (p.Pro633Arg) c.*1061C>G (n.*1061C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075545G= | CA1143610763 | CACNA1S | c.1898C= (p.Pro633=) c.*1061C= (n.*1061C=) | |
1 | g.201075545G>T | CA344116827 | CACNA1S | c.1898C>A (p.Pro633His) c.*1061C>A (n.*1061C>A) | |
1 | g.201075546G>A | CA344116836 | CACNA1S | c.1897C>T (p.Pro633Ser) c.*1060C>T (n.*1060C>T) | gnomAD v4 |
1 | g.201075546G>C | CA344116833 | CACNA1S | c.1897C>G (p.Pro633Ala) c.*1060C>G (n.*1060C>G) | |
1 | g.201075546G>T | CA344116830 | CACNA1S | c.1897C>A (p.Pro633Thr) c.*1060C>A (n.*1060C>A) | |
1 | g.201075547G>A | CA422689045 | CACNA1S | c.1896C>T (p.Tyr632=) c.*1059C>T (n.*1059C>T) | |
1 | g.201075547G>C | CA344116837 | CACNA1S | c.1896C>G (p.Tyr632Ter) c.*1059C>G (n.*1059C>G) | |
1 | g.201075547G>T | CA344116838 | CACNA1S | c.1896C>A (p.Tyr632Ter) c.*1059C>A (n.*1059C>A) | |
1 | g.201075548T>A | CA344116839 | CACNA1S | c.1895A>T (p.Tyr632Phe) c.*1058A>T (n.*1058A>T) | |
1 | g.201075548T>C | CA344116843 | CACNA1S | c.1895A>G (p.Tyr632Cys) c.*1058A>G (n.*1058A>G) | gnomAD v4 |
1 | g.201075548T>G | CA344116846 | CACNA1S | c.1895A>C (p.Tyr632Ser) c.*1058A>C (n.*1058A>C) | |
1 | g.201075549A>C | CA344116847 | CACNA1S | c.1894T>G (p.Tyr632Asp) c.*1057T>G (n.*1057T>G) | |
1 | g.201075549A>G | CA344116848 | CACNA1S | c.1894T>C (p.Tyr632His) c.*1057T>C (n.*1057T>C) | |
1 | g.201075549A>T | CA344116849 | CACNA1S | c.1894T>A (p.Tyr632Asn) c.*1057T>A (n.*1057T>A) | |
1 | g.201075550G>A | CA422689046 | CACNA1S | c.1893C>T (p.Ser631=) c.*1056C>T (n.*1056C>T) | |
1 | g.201075550G>C | CA422689047 | CACNA1S | c.1893C>G (p.Ser631=) c.*1056C>G (n.*1056C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075550G= | CA1219574506 | CACNA1S | c.1893C= (p.Ser631=) c.*1056C= (n.*1056C=) | |
1 | g.201075550G>T | CA422689048 | CACNA1S | c.1893C>A (p.Ser631=) c.*1056C>A (n.*1056C>A) | |
1 | g.201075551G>A | CA344116852 | CACNA1S | c.1892C>T (p.Ser631Phe) c.*1055C>T (n.*1055C>T) | |
1 | g.201075551G>C | CA344116854 | CACNA1S | c.1892C>G (p.Ser631Cys) c.*1055C>G (n.*1055C>G) | |
1 | g.201075551G>T | CA344116856 | CACNA1S | c.1892C>A (p.Ser631Tyr) c.*1055C>A (n.*1055C>A) | |
1 | g.201075552A>C | CA344116879 | CACNA1S | c.1891T>G (p.Ser631Ala) c.*1054T>G (n.*1054T>G) | |
1 | g.201075552A>G | CA344116884 | CACNA1S | c.1891T>C (p.Ser631Pro) c.*1054T>C (n.*1054T>C) | |
1 | g.201075552A>T | CA344116860 | CACNA1S | c.1891T>A (p.Ser631Thr) c.*1054T>A (n.*1054T>A) | gnomAD v4 |
1 | g.201075553C>A | CA422689049 | CACNA1S | c.1890G>T (p.Pro630=) c.*1053G>T (n.*1053G>T) | |
1 | g.201075553C= | CA1141822279 | CACNA1S | c.1890G= (p.Pro630=) c.*1053G= (n.*1053G=) | |
1 | g.201075553C>G | CA422689050 | CACNA1S | c.1890G>C (p.Pro630=) c.*1053G>C (n.*1053G>C) | |
1 | g.201075553C>T | CA078652 | CACNA1S | c.1890G>A (p.Pro630=) c.*1053G>A (n.*1053G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075553_201075554insT | CA2740215431 | CACNA1S | c.1889_1890insA (p.Ser631ValfsTer?) c.*1052_*1053insA (n.*1052_*1053insA) | |
1 | g.201075554G>A | CA078650 | CACNA1S | c.1889C>T (p.Pro630Leu) c.*1052C>T (n.*1052C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075554G>C | CA344116911 | CACNA1S | c.1889C>G (p.Pro630Arg) c.*1052C>G (n.*1052C>G) | |
1 | g.201075554G= | CA1142377502 | CACNA1S | c.1889C= (p.Pro630=) c.*1052C= (n.*1052C=) | |
1 | g.201075554G>T | CA344116913 | CACNA1S | c.1889C>A (p.Pro630Gln) c.*1052C>A (n.*1052C>A) | |
1 | g.201075555G>A | CA344116931 | CACNA1S | c.1888C>T (p.Pro630Ser) c.*1051C>T (n.*1051C>T) | |
1 | g.201075555G>C | CA344116933 | CACNA1S | c.1888C>G (p.Pro630Ala) c.*1051C>G (n.*1051C>G) | dbSNP |
1 | g.201075555G= | CA1219574514 | CACNA1S | c.1888C= (p.Pro630=) c.*1051C= (n.*1051C=) | |
1 | g.201075555G>T | CA344116935 | CACNA1S | c.1888C>A (p.Pro630Thr) c.*1051C>A (n.*1051C>A) | |
1 | g.201075556C>A | CA422689051 | CACNA1S | c.1887G>T (p.Gly629=) c.*1050G>T (n.*1050G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075556C= | CA1219574516 | CACNA1S | c.1887G= (p.Gly629=) c.*1050G= (n.*1050G=) | |
1 | g.201075556C>G | CA422689053 | CACNA1S | c.1887G>C (p.Gly629=) c.*1050G>C (n.*1050G>C) | |
1 | g.201075556C>T | CA422689052 | CACNA1S | c.1887G>A (p.Gly629=) c.*1050G>A (n.*1050G>A) | gnomAD v4 |
1 | g.201075557C>A | CA344116936 | CACNA1S | c.1886G>T (p.Gly629Val) c.*1049G>T (n.*1049G>T) | |
1 | g.201075557C>G | CA344116939 | CACNA1S | c.1886G>C (p.Gly629Ala) c.*1049G>C (n.*1049G>C) | |
1 | g.201075557C>T | CA344116940 | CACNA1S | c.1886G>A (p.Gly629Glu) c.*1049G>A (n.*1049G>A) | |
1 | g.201075557_201075558delinsCC | CA1219574517 | CACNA1S | c.1885_1886delinsGG (p.Gly629=) c.*1048_*1049delinsGG (n.*1048_*1049delinsGG) | |
1 | g.201075557_201075558delinsTT | CA35976149 | CACNA1S | c.1885_1886delinsAA (p.Gly629Lys) c.*1048_*1049delinsAA (n.*1048_*1049delinsAA) | dbSNP |
1 | g.201075558C>A | CA344116943 | CACNA1S | c.1885G>T (p.Gly629Trp) c.*1048G>T (n.*1048G>T) | gnomAD v4 |
1 | g.201075558C= | CA1142206900 | CACNA1S | c.1885G= (p.Gly629=) c.*1048G= (n.*1048G=) | |
1 | g.201075558C>G | CA344116945 | CACNA1S | c.1885G>C (p.Gly629Arg) c.*1048G>C (n.*1048G>C) | gnomAD v4 |
1 | g.201075558C>T | CA078649 | CACNA1S | c.1885G>A (p.Gly629Arg) c.*1048G>A (n.*1048G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075559G>A | CA078647 | CACNA1S | c.1884C>T (p.Gly628=) c.*1047C>T (n.*1047C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075559G>C | CA078646 | CACNA1S | c.1884C>G (p.Gly628=) c.*1047C>G (n.*1047C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075559G= | CA1143438112 | CACNA1S | c.1884C= (p.Gly628=) c.*1047C= (n.*1047C=) | |
1 | g.201075559G>T | CA422689054 | CACNA1S | c.1884C>A (p.Gly628=) c.*1047C>A (n.*1047C>A) | COSMIC |
1 | g.201075559_201075562del | CA2740215432 | CACNA1S | c.1881_1884del (p.Tyr627Ter) c.*1044_*1047del (n.*1044_*1047del) | |
1 | g.201075560C>A | CA344116952 | CACNA1S | c.1883G>T (p.Gly628Val) c.*1046G>T (n.*1046G>T) | dbSNP |
1 | g.201075560C= | CA1219574527 | CACNA1S | c.1883G= (p.Gly628=) c.*1046G= (n.*1046G=) | |
1 | g.201075560C>G | CA344116953 | CACNA1S | c.1883G>C (p.Gly628Ala) c.*1046G>C (n.*1046G>C) | |
1 | g.201075560C>T | CA344116954 | CACNA1S | c.1883G>A (p.Gly628Asp) c.*1046G>A (n.*1046G>A) | dbSNP |
1 | g.201075561C>A | CA344116959 | CACNA1S | c.1882G>T (p.Gly628Cys) c.*1045G>T (n.*1045G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075561C= | CA1219574533 | CACNA1S | c.1882G= (p.Gly628=) c.*1045G= (n.*1045G=) | |
1 | g.201075561C>G | CA344116964 | CACNA1S | c.1882G>C (p.Gly628Arg) c.*1045G>C (n.*1045G>C) | |
1 | g.201075561C>T | CA078645 | CACNA1S | c.1882G>A (p.Gly628Ser) c.*1045G>A (n.*1045G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075562G>A | CA078642 | CACNA1S | c.1881C>T (p.Tyr627=) c.*1044C>T (n.*1044C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075562G>C | CA344116973 | CACNA1S | c.1881C>G (p.Tyr627Ter) c.*1044C>G (n.*1044C>G) | |
1 | g.201075562G= | CA1142069609 | CACNA1S | c.1881C= (p.Tyr627=) c.*1044C= (n.*1044C=) | |
1 | g.201075562G>T | CA344116986 | CACNA1S | c.1881C>A (p.Tyr627Ter) c.*1044C>A (n.*1044C>A) | |
1 | g.201075563T>A | CA344116988 | CACNA1S | c.1880A>T (p.Tyr627Phe) c.*1043A>T (n.*1043A>T) | |
1 | g.201075563T>C | CA344116990 | CACNA1S | c.1880A>G (p.Tyr627Cys) c.*1043A>G (n.*1043A>G) | |
1 | g.201075563T>G | CA344116999 | CACNA1S | c.1880A>C (p.Tyr627Ser) c.*1043A>C (n.*1043A>C) | |
1 | g.201075564A>C | CA344117001 | CACNA1S | c.1879T>G (p.Tyr627Asp) c.*1042T>G (n.*1042T>G) | |
1 | g.201075564A>G | CA344117002 | CACNA1S | c.1879T>C (p.Tyr627His) c.*1042T>C (n.*1042T>C) | dbSNP |
1 | g.201075564A>T | CA344117000 | CACNA1S | c.1879T>A (p.Tyr627Asn) c.*1042T>A (n.*1042T>A) | |
1 | g.201075564_201075566del | CA2740215433 | CACNA1S | c.1877_1879del (p.Ala626_Tyr627delinsAsp) c.*1040_*1042del (n.*1040_*1042del) | |
1 | g.201075565G>A | CA422689055 | CACNA1S | c.1878C>T (p.Ala626=) c.*1041C>T (n.*1041C>T) | gnomAD v4 |
1 | g.201075565G>C | CA078640 | CACNA1S | c.1878C>G (p.Ala626=) c.*1041C>G (n.*1041C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075565G= | CA1142564211 | CACNA1S | c.1878C= (p.Ala626=) c.*1041C= (n.*1041C=) | |
1 | g.201075565G>T | CA422689056 | CACNA1S | c.1878C>A (p.Ala626=) c.*1041C>A (n.*1041C>A) | |
1 | g.201075566G>A | CA078637 | CACNA1S | c.1877C>T (p.Ala626Val) c.*1040C>T (n.*1040C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075566G>C | CA078635 | CACNA1S | c.1877C>G (p.Ala626Gly) c.*1040C>G (n.*1040C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075566G= | CA1219574546 | CACNA1S | c.1877C= (p.Ala626=) c.*1040C= (n.*1040C=) | |
1 | g.201075566G>T | CA344117013 | CACNA1S | c.1877C>A (p.Ala626Asp) c.*1040C>A (n.*1040C>A) | |
1 | g.201075567C>A | CA344117019 | CACNA1S | c.1876G>T (p.Ala626Ser) c.*1039G>T (n.*1039G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075567C= | CA1219574551 | CACNA1S | c.1876G= (p.Ala626=) c.*1039G= (n.*1039G=) | |
1 | g.201075567C>G | CA344117020 | CACNA1S | c.1876G>C (p.Ala626Pro) c.*1039G>C (n.*1039G>C) | |
1 | g.201075567C>T | CA344117025 | CACNA1S | c.1876G>A (p.Ala626Thr) c.*1039G>A (n.*1039G>A) | gnomAD v4 |
1 | g.201075568C>A | CA344117031 | CACNA1S | c.1875G>T (p.Met625Ile) c.*1038G>T (n.*1038G>T) | |
1 | g.201075568C>G | CA344117038 | CACNA1S | c.1875G>C (p.Met625Ile) c.*1038G>C (n.*1038G>C) | |
1 | g.201075568C>T | CA344117042 | CACNA1S | c.1875G>A (p.Met625Ile) c.*1038G>A (n.*1038G>A) | |
1 | g.201075569A= | CA1219574552 | CACNA1S | c.1874T= (p.Met625=) c.*1037T= (n.*1037T=) | |
1 | g.201075569A>C | CA344117062 | CACNA1S | c.1874T>G (p.Met625Arg) c.*1037T>G (n.*1037T>G) | |
1 | g.201075569A>G | CA344117070 | CACNA1S | c.1874T>C (p.Met625Thr) c.*1037T>C (n.*1037T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075569A>T | CA344117082 | CACNA1S | c.1874T>A (p.Met625Lys) c.*1037T>A (n.*1037T>A) | |
1 | g.201075570T>A | CA344117096 | CACNA1S | c.1873A>T (p.Met625Leu) c.*1036A>T (n.*1036A>T) | |
1 | g.201075570T>C | CA078633 | CACNA1S | c.1873A>G (p.Met625Val) c.*1036A>G (n.*1036A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075570T>G | CA344117092 | CACNA1S | c.1873A>C (p.Met625Leu) c.*1036A>C (n.*1036A>C) | dbSNP gnomAD v4 |
1 | g.201075570T= | CA1145037990 | CACNA1S | c.1873A= (p.Met625=) c.*1036A= (n.*1036A=) | |
1 | g.201075571G>A | CA422689057 | CACNA1S | c.1872C>T (p.Ile624=) c.*1035C>T (n.*1035C>T) | gnomAD v4 |
1 | g.201075571G>C | CA344117111 | CACNA1S | c.1872C>G (p.Ile624Met) c.*1035C>G (n.*1035C>G) | |
1 | g.201075571G>T | CA422689058 | CACNA1S | c.1872C>A (p.Ile624=) c.*1035C>A (n.*1035C>A) | |
1 | g.201075572A>C | CA344117116 | CACNA1S | c.1871T>G (p.Ile624Ser) c.*1034T>G (n.*1034T>G) | |
1 | g.201075572A>G | CA344117118 | CACNA1S | c.1871T>C (p.Ile624Thr) c.*1034T>C (n.*1034T>C) | |
1 | g.201075572A>T | CA344117121 | CACNA1S | c.1871T>A (p.Ile624Asn) c.*1034T>A (n.*1034T>A) | |
1 | g.201075573T>A | CA344117125 | CACNA1S | c.1870A>T (p.Ile624Phe) c.*1033A>T (n.*1033A>T) | |
1 | g.201075573T>C | CA344117130 | CACNA1S | c.1870A>G (p.Ile624Val) c.*1033A>G (n.*1033A>G) | |
1 | g.201075573T>G | CA344117142 | CACNA1S | c.1870A>C (p.Ile624Leu) c.*1033A>C (n.*1033A>C) | |
1 | g.201075574_201075579del | CA2740215434 | CACNA1S | c.1865_1870del (p.Asn622_Gly623del) c.*1028_*1033del (n.*1028_*1033del) | |
1 | g.201075574C>A | CA422689059 | CACNA1S | c.1869G>T (p.Gly623=) c.*1032G>T (n.*1032G>T) | ClinVar COSMIC |
1 | g.201075574C= | CA1219574558 | CACNA1S | c.1869G= (p.Gly623=) c.*1032G= (n.*1032G=) | |
1 | g.201075574C>G | CA422689060 | CACNA1S | c.1869G>C (p.Gly623=) c.*1032G>C (n.*1032G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075574C>T | CA422689061 | CACNA1S | c.1869G>A (p.Gly623=) c.*1032G>A (n.*1032G>A) | ClinVar |
1 | g.201075575C>A | CA344117144 | CACNA1S | c.1868G>T (p.Gly623Val) c.*1031G>T (n.*1031G>T) | |
1 | g.201075575C>G | CA344117146 | CACNA1S | c.1868G>C (p.Gly623Ala) c.*1031G>C (n.*1031G>C) | |
1 | g.201075575C>T | CA344117154 | CACNA1S | c.1868G>A (p.Gly623Glu) c.*1031G>A (n.*1031G>A) | COSMIC |
1 | g.201075576C>A | CA344117158 | CACNA1S | c.1867G>T (p.Gly623Trp) c.*1030G>T (n.*1030G>T) | |
1 | g.201075576C>G | CA344117163 | CACNA1S | c.1867G>C (p.Gly623Arg) c.*1030G>C (n.*1030G>C) | |
1 | g.201075576C>T | CA344117165 | CACNA1S | c.1867G>A (p.Gly623Arg) c.*1030G>A (n.*1030G>A) | |
1 | g.201075577A= | CA1219574563 | CACNA1S | c.1866T= (p.Asn622=) c.*1029T= (n.*1029T=) | |
1 | g.201075577A>C | CA344117168 | CACNA1S | c.1866T>G (p.Asn622Lys) c.*1029T>G (n.*1029T>G) | dbSNP |
1 | g.201075577A>G | CA422689062 | CACNA1S | c.1866T>C (p.Asn622=) c.*1029T>C (n.*1029T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.201075577A>T | CA344117171 | CACNA1S | c.1866T>A (p.Asn622Lys) c.*1029T>A (n.*1029T>A) | |
1 | g.201075578T>A | CA344117174 | CACNA1S | c.1865A>T (p.Asn622Ile) c.*1028A>T (n.*1028A>T) | |
1 | g.201075578T>C | CA35976198 | CACNA1S | c.1865A>G (p.Asn622Ser) c.*1028A>G (n.*1028A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075578T>G | CA344117176 | CACNA1S | c.1865A>C (p.Asn622Thr) c.*1028A>C (n.*1028A>C) | |
1 | g.201075578T= | CA1219574567 | CACNA1S | c.1865A= (p.Asn622=) c.*1028A= (n.*1028A=) | |
1 | g.201075579T>A | CA344117178 | CACNA1S | c.1864A>T (p.Asn622Tyr) c.*1027A>T (n.*1027A>T) | |
1 | g.201075579T>C | CA344117180 | CACNA1S | c.1864A>G (p.Asn622Asp) c.*1027A>G (n.*1027A>G) | gnomAD v4 |
1 | g.201075579T>G | CA344117183 | CACNA1S | c.1864A>C (p.Asn622His) c.*1027A>C (n.*1027A>C) | |
1 | g.201075580_201075581dup | CA2649766036 | CACNA1S | c.1863_1864dup (p.Asn622ThrfsTer?) c.*1026_*1027dup (n.*1026_*1027dup) | gnomAD v4 |
1 | g.201075580G>A | CA422689063 | CACNA1S | c.1863C>T (p.Tyr621=) c.*1026C>T (n.*1026C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075580G>C | CA344117191 | CACNA1S | c.1863C>G (p.Tyr621Ter) c.*1026C>G (n.*1026C>G) | |
1 | g.201075580G= | CA1219574569 | CACNA1S | c.1863C= (p.Tyr621=) c.*1026C= (n.*1026C=) | |
1 | g.201075580G>T | CA344117189 | CACNA1S | c.1863C>A (p.Tyr621Ter) c.*1026C>A (n.*1026C>A) | |
1 | g.201075581T>A | CA344117195 | CACNA1S | c.1862A>T (p.Tyr621Phe) c.*1025A>T (n.*1025A>T) | |
1 | g.201075581T>C | CA078631 | CACNA1S | c.1862A>G (p.Tyr621Cys) c.*1025A>G (n.*1025A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075581T>G | CA16621966 | CACNA1S | c.1862A>C (p.Tyr621Ser) c.*1025A>C (n.*1025A>C) | |
1 | g.201075581T= | CA1219574572 | CACNA1S | c.1862A= (p.Tyr621=) c.*1025A= (n.*1025A=) | |
1 | g.201075582A>C | CA344117208 | CACNA1S | c.1861T>G (p.Tyr621Asp) c.*1024T>G (n.*1024T>G) | ClinVar gnomAD v4 |
1 | g.201075582A>G | CA344117210 | CACNA1S | c.1861T>C (p.Tyr621His) c.*1024T>C (n.*1024T>C) | gnomAD v4 |
1 | g.201075582A>T | CA344117213 | CACNA1S | c.1861T>A (p.Tyr621Asn) c.*1024T>A (n.*1024T>A) | |
1 | g.201075583C>A | CA344117222 | CACNA1S | c.1860G>T (p.Met620Ile) c.*1023G>T (n.*1023G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.201075583C>G | CA344117226 | CACNA1S | c.1860G>C (p.Met620Ile) c.*1023G>C (n.*1023G>C) | gnomAD v4 |
1 | g.201075583C>T | CA344117225 | CACNA1S | c.1860G>A (p.Met620Ile) c.*1023G>A (n.*1023G>A) | ClinVar |
1 | g.201075583_201075586delinsAATA | CA2573051459 | CACNA1S | c.1857_1860delinsTATT (p.Met619_Met620delinsIleIle) c.*1020_*1023delinsTATT (n.*1020_*1023delinsTATT) | ClinVar dbSNP |
1 | g.201075584A>C | CA344117230 | CACNA1S | c.1859T>G (p.Met620Arg) c.*1022T>G (n.*1022T>G) | gnomAD v4 |
1 | g.201075584A>G | CA344117233 | CACNA1S | c.1859T>C (p.Met620Thr) c.*1022T>C (n.*1022T>C) | |
1 | g.201075584A>T | CA344117241 | CACNA1S | c.1859T>A (p.Met620Lys) c.*1022T>A (n.*1022T>A) | |
1 | g.201075584_201075585insATGGGA | CA2740215435 | CACNA1S | c.1859_1860insCCCATT (p.Met620delinsIleProLeu) c.*1022_*1023insCCCATT (n.*1022_*1023insCCCATT) | |
1 | g.201075585T>A | CA344117247 | CACNA1S | c.1858A>T (p.Met620Leu) c.*1021A>T (n.*1021A>T) | |
1 | g.201075585T>C | CA344117248 | CACNA1S | c.1858A>G (p.Met620Val) c.*1021A>G (n.*1021A>G) | ClinVar |
1 | g.201075585T>G | CA344117249 | CACNA1S | c.1858A>C (p.Met620Leu) c.*1021A>C (n.*1021A>C) | |
1 | g.201075586C>A | CA344117251 | CACNA1S | c.1857G>T (p.Met619Ile) c.*1020G>T (n.*1020G>T) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.201075586C>G | CA344117256 | CACNA1S | c.1857G>C (p.Met619Ile) c.*1020G>C (n.*1020G>C) | |
1 | g.201075586C>T | CA344117257 | CACNA1S | c.1857G>A (p.Met619Ile) c.*1020G>A (n.*1020G>A) | |
1 | g.201075587A>C | CA344117260 | CACNA1S | c.1856T>G (p.Met619Arg) c.*1019T>G (n.*1019T>G) | |
1 | g.201075587A>G | CA344117263 | CACNA1S | c.1856T>C (p.Met619Thr) c.*1019T>C (n.*1019T>C) | gnomAD v4 |
1 | g.201075587A>T | CA344117269 | CACNA1S | c.1856T>A (p.Met619Lys) c.*1019T>A (n.*1019T>A) | |
1 | g.201075588T>A | CA344117274 | CACNA1S | c.1855A>T (p.Met619Leu) c.*1018A>T (n.*1018A>T) | |
1 | g.201075588T>C | CA078628 | CACNA1S | c.1855A>G (p.Met619Val) c.*1018A>G (n.*1018A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075588T>G | CA344117273 | CACNA1S | c.1855A>C (p.Met619Leu) c.*1018A>C (n.*1018A>C) | gnomAD v4 |
1 | g.201075588T= | CA1219574574 | CACNA1S | c.1855A= (p.Met619=) c.*1018A= (n.*1018A=) | |
1 | g.201075588_201075589insGGCC | CA2740215436 | CACNA1S | c.1854_1855insGGCC (p.Met619GlyfsTer?) c.*1017_*1018insGGCC (n.*1017_*1018insGGCC) | |
1 | g.201075589T>A | CA422689065 | CACNA1S | c.1854A>T (p.Ser618=) c.*1017A>T (n.*1017A>T) | |
1 | g.201075589T>C | CA422689064 | CACNA1S | c.1854A>G (p.Ser618=) c.*1017A>G (n.*1017A>G) | gnomAD v4 |
1 | g.201075589T>G | CA422689066 | CACNA1S | c.1854A>C (p.Ser618=) c.*1017A>C (n.*1017A>C) | gnomAD v4 |
1 | g.201075589_201075590insACG | CA2740215437 | CACNA1S | c.1853_1854insCGT (p.Ser618_Met619insVal) c.*1016_*1017insCGT (n.*1016_*1017insCGT) | |
1 | g.201075590G>A | CA078627 | CACNA1S | c.1853C>T (p.Ser618Leu) c.*1016C>T (n.*1016C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075590G>C | CA344117275 | CACNA1S | c.1853C>G (p.Ser618Ter) c.*1016C>G (n.*1016C>G) | gnomAD v4 |
1 | g.201075590G= | CA1219574580 | CACNA1S | c.1853C= (p.Ser618=) c.*1016C= (n.*1016C=) | |
1 | g.201075590G>T | CA344117286 | CACNA1S | c.1853C>A (p.Ser618Ter) c.*1016C>A (n.*1016C>A) | |
1 | g.201075591A= | CA1142288013 | CACNA1S | c.1852T= (p.Ser618=) c.*1015T= (n.*1015T=) | |
1 | g.201075591A>C | CA078626 | CACNA1S | c.1852T>G (p.Ser618Ala) c.*1015T>G (n.*1015T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075591A>G | CA344117318 | CACNA1S | c.1852T>C (p.Ser618Pro) c.*1015T>C (n.*1015T>C) | |
1 | g.201075591A>T | CA344117314 | CACNA1S | c.1852T>A (p.Ser618Thr) c.*1015T>A (n.*1015T>A) | |
1 | g.201075592G>A | CA422689067 | CACNA1S | c.1851C>T (p.Thr617=) c.*1014C>T (n.*1014C>T) | gnomAD v4 |
1 | g.201075592G>C | CA422689069 | CACNA1S | c.1851C>G (p.Thr617=) c.*1014C>G (n.*1014C>G) | |
1 | g.201075592G>T | CA422689068 | CACNA1S | c.1851C>A (p.Thr617=) c.*1014C>A (n.*1014C>A) | |
1 | g.201075593G>A | CA344117324 | CACNA1S | c.1850C>T (p.Thr617Ile) c.*1013C>T (n.*1013C>T) | |
1 | g.201075593G>C | CA344117331 | CACNA1S | c.1850C>G (p.Thr617Ser) c.*1013C>G (n.*1013C>G) | |
1 | g.201075593G>T | CA344117334 | CACNA1S | c.1850C>A (p.Thr617Asn) c.*1013C>A (n.*1013C>A) | |
1 | g.201075594T>A | CA344117342 | CACNA1S | c.1849A>T (p.Thr617Ser) c.*1012A>T (n.*1012A>T) | |
1 | g.201075594T>C | CA35976230 | CACNA1S | c.1849A>G (p.Thr617Ala) c.*1012A>G (n.*1012A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075594T>G | CA344117356 | CACNA1S | c.1849A>C (p.Thr617Pro) c.*1012A>C (n.*1012A>C) | |
1 | g.201075594T= | CA1219574583 | CACNA1S | c.1849A= (p.Thr617=) c.*1012A= (n.*1012A=) | |
1 | g.201075595C>A | CA344117368 | CACNA1S | c.1848G>T (p.Trp616Cys) c.*1011G>T (n.*1011G>T) | |
1 | g.201075595C= | CA1219574586 | CACNA1S | c.1848G= (p.Trp616=) c.*1011G= (n.*1011G=) | |
1 | g.201075595C>G | CA344117369 | CACNA1S | c.1848G>C (p.Trp616Cys) c.*1011G>C (n.*1011G>C) | |
1 | g.201075595C>T | CA344117370 | CACNA1S | c.1848G>A (p.Trp616Ter) c.*1011G>A (n.*1011G>A) | dbSNP |
1 | g.201075596C>A | CA344117374 | CACNA1S | c.1847G>T (p.Trp616Leu) c.*1010G>T (n.*1010G>T) | |
1 | g.201075596C= | CA1219574599 | CACNA1S | c.1847G= (p.Trp616=) c.*1010G= (n.*1010G=) | |
1 | g.201075596C>G | CA344117376 | CACNA1S | c.1847G>C (p.Trp616Ser) c.*1010G>C (n.*1010G>C) | |
1 | g.201075596C>T | CA344117381 | CACNA1S | c.1847G>A (p.Trp616Ter) c.*1010G>A (n.*1010G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.201075597del | CA2740215438 | CACNA1S | c.1846del (p.Trp616GlyfsTer4) c.*1009del (n.*1009del) | |
1 | g.201075597A= | CA1219574602 | CACNA1S | c.1846T= (p.Trp616=) c.*1009T= (n.*1009T=) | |
1 | g.201075597A>C | CA344117398 | CACNA1S | c.1846T>G (p.Trp616Gly) c.*1009T>G (n.*1009T>G) | |
1 | g.201075597A>G | CA344117391 | CACNA1S | c.1846T>C (p.Trp616Arg) c.*1009T>C (n.*1009T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.201075597A>T | CA344117395 | CACNA1S | c.1846T>A (p.Trp616Arg) c.*1009T>A (n.*1009T>A) | |
1 | g.201075598G>A | CA078625 | CACNA1S | c.1845C>T (p.Asp615=) c.*1008C>T (n.*1008C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075598G>C | CA344117419 | CACNA1S | c.1845C>G (p.Asp615Glu) c.*1008C>G (n.*1008C>G) | |
1 | g.201075598G= | CA1143394446 | CACNA1S | c.1845C= (p.Asp615=) c.*1008C= (n.*1008C=) | |
1 | g.201075598G>T | CA344117431 | CACNA1S | c.1845C>A (p.Asp615Glu) c.*1008C>A (n.*1008C>A) | |
1 | g.201075598_201075601delinsGTCT | CA1219574608 | CACNA1S | c.1842_1845delinsAGAC (p.Glu614=) c.*1005_*1008delinsAGAC (n.*1005_*1008delinsAGAC) | |
1 | g.201075599T>A | CA344117441 | CACNA1S | c.1844A>T (p.Asp615Val) c.*1007A>T (n.*1007A>T) | |
1 | g.201075599T>C | CA344117452 | CACNA1S | c.1844A>G (p.Asp615Gly) c.*1007A>G (n.*1007A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075599T>G | CA344117454 | CACNA1S | c.1844A>C (p.Asp615Ala) c.*1007A>C (n.*1007A>C) | |
1 | g.201075599T= | CA1219574612 | CACNA1S | c.1844A= (p.Asp615=) c.*1007A= (n.*1007A=) | |
1 | g.201075601_201075603del | CA916380490 | CACNA1S | c.1842_1844del (p.Glu614del) c.*1005_*1007del (n.*1005_*1007del) | dbSNP |
1 | g.201075600C>A | CA344117457 | CACNA1S | c.1843G>T (p.Asp615Tyr) c.*1006G>T (n.*1006G>T) | dbSNP gnomAD v4 |
1 | g.201075600C= | CA1219574614 | CACNA1S | c.1843G= (p.Asp615=) c.*1006G= (n.*1006G=) | |
1 | g.201075600C>G | CA344117459 | CACNA1S | c.1843G>C (p.Asp615His) c.*1006G>C (n.*1006G>C) | gnomAD v4 |
1 | g.201075600C>T | CA344117462 | CACNA1S | c.1843G>A (p.Asp615Asn) c.*1006G>A (n.*1006G>A) | gnomAD v4 |
1 | g.201075601T>A | CA344117467 | CACNA1S | c.1842A>T (p.Glu614Asp) c.*1005A>T (n.*1005A>T) | |
1 | g.201075601T>C | CA422689082 | CACNA1S | c.1842A>G (p.Glu614=) c.*1005A>G (n.*1005A>G) | |
1 | g.201075601T>G | CA344117471 | CACNA1S | c.1842A>C (p.Glu614Asp) c.*1005A>C (n.*1005A>C) | ClinVar |
1 | g.201075602T>A | CA344117484 | CACNA1S | c.1841A>T (p.Glu614Val) c.*1004A>T (n.*1004A>T) | |
1 | g.201075602T>C | CA344117482 | CACNA1S | c.1841A>G (p.Glu614Gly) c.*1004A>G (n.*1004A>G) | |
1 | g.201075602T>G | CA344117475 | CACNA1S | c.1841A>C (p.Glu614Ala) c.*1004A>C (n.*1004A>C) | |
1 | g.201075603C>A | CA344117490 | CACNA1S | c.1840G>T (p.Glu614Ter) c.*1003G>T (n.*1003G>T) | dbSNP |
1 | g.201075603C= | CA1219574615 | CACNA1S | c.1840G= (p.Glu614=) c.*1003G= (n.*1003G=) | |
1 | g.201075603C>G | CA344117498 | CACNA1S | c.1840G>C (p.Glu614Gln) c.*1003G>C (n.*1003G>C) | gnomAD v4 |
1 | g.201075603C>T | CA344117502 | CACNA1S | c.1840G>A (p.Glu614Lys) c.*1003G>A (n.*1003G>A) | |
1 | g.201075606del | CA2740090458 | CACNA1S | c.1840del (p.Glu614LysfsTer6) c.*1003del (n.*1003del) | ClinVar |
1 | g.201075604C>A | CA422689086 | CACNA1S | c.1839G>T (p.Gly613=) c.*1002G>T (n.*1002G>T) | dbSNP |
1 | g.201075604C>G | CA422689089 | CACNA1S | c.1839G>C (p.Gly613=) c.*1002G>C (n.*1002G>C) | ClinVar |
1 | g.201075604C>T | CA422689087 | CACNA1S | c.1839G>A (p.Gly613=) c.*1002G>A (n.*1002G>A) | ClinVar |
1 | g.201075605C>A | CA344117510 | CACNA1S | c.1838G>T (p.Gly613Val) c.*1001G>T (n.*1001G>T) | |
1 | g.201075605C= | CA1219574618 | CACNA1S | c.1838G= (p.Gly613=) c.*1001G= (n.*1001G=) | |
1 | g.201075605C>G | CA344117524 | CACNA1S | c.1838G>C (p.Gly613Ala) c.*1001G>C (n.*1001G>C) | |
1 | g.201075605C>T | CA078623 | CACNA1S | c.1838G>A (p.Gly613Glu) c.*1001G>A (n.*1001G>A) | dbSNP ExAC gnomAD v2 |
1 | g.201075605_201075607delinsCCT | CA1219574619 | CACNA1S | c.1836_1838delinsAGG (p.Thr612=) c.*999_*1001delinsAGG (n.*999_*1001delinsAGG) | |
1 | g.201075606C>A | CA344117527 | CACNA1S | c.1837G>T (p.Gly613Trp) c.*1000G>T (n.*1000G>T) | |
1 | g.201075606C>G | CA344117529 | CACNA1S | c.1837G>C (p.Gly613Arg) c.*1000G>C (n.*1000G>C) | |
1 | g.201075606C>T | CA344117531 | CACNA1S | c.1837G>A (p.Gly613Arg) c.*1000G>A (n.*1000G>A) | gnomAD v4 |
1 | g.201075606_201075607del | CA528306086 | CACNA1S | c.1836_1837del (p.Glu614ArgfsTer?) c.*999_*1000del (n.*999_*1000del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075607T>A | CA422689095 | CACNA1S | c.1836A>T (p.Thr612=) c.*999A>T (n.*999A>T) | |
1 | g.201075607T>C | CA35976253 | CACNA1S | c.1836A>G (p.Thr612=) c.*999A>G (n.*999A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075607T>G | CA422689096 | CACNA1S | c.1836A>C (p.Thr612=) c.*999A>C (n.*999A>C) | |
1 | g.201075607T= | CA1219574621 | CACNA1S | c.1836A= (p.Thr612=) c.*999A= (n.*999A=) | |
1 | g.201075608G>A | CA344117560 | CACNA1S | c.1835C>T (p.Thr612Ile) c.*998C>T (n.*998C>T) | gnomAD v4 |
1 | g.201075608G>C | CA344117569 | CACNA1S | c.1835C>G (p.Thr612Arg) c.*998C>G (n.*998C>G) | |
1 | g.201075608G>T | CA344117577 | CACNA1S | c.1835C>A (p.Thr612Lys) c.*998C>A (n.*998C>A) | |
1 | g.201075609T>A | CA344117612 | CACNA1S | c.1834A>T (p.Thr612Ser) c.*997A>T (n.*997A>T) | |
1 | g.201075609T>C | CA344117593 | CACNA1S | c.1834A>G (p.Thr612Ala) c.*997A>G (n.*997A>G) | dbSNP COSMIC |
1 | g.201075609T>G | CA344117601 | CACNA1S | c.1834A>C (p.Thr612Pro) c.*997A>C (n.*997A>C) | |
1 | g.201075609T= | CA1219574624 | CACNA1S | c.1834A= (p.Thr612=) c.*997A= (n.*997A=) | |
1 | g.201075610C>A | CA422689100 | CACNA1S | c.1833G>T (p.Leu611=) c.*996G>T (n.*996G>T) | |
1 | g.201075610C>G | CA422689102 | CACNA1S | c.1833G>C (p.Leu611=) c.*996G>C (n.*996G>C) | |
1 | g.201075610C>T | CA422689101 | CACNA1S | c.1833G>A (p.Leu611=) c.*996G>A (n.*996G>A) | |
1 | g.201075611A= | CA1219574628 | CACNA1S | c.1832T= (p.Leu611=) c.*995T= (n.*995T=) | |
1 | g.201075611A>C | CA344117615 | CACNA1S | c.1832T>G (p.Leu611Arg) c.*995T>G (n.*995T>G) | |
1 | g.201075611A>G | CA078621 | CACNA1S | c.1832T>C (p.Leu611Pro) c.*995T>C (n.*995T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075611A>T | CA344117626 | CACNA1S | c.1832T>A (p.Leu611Gln) c.*995T>A (n.*995T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075612G>A | CA422689106 | CACNA1S | c.1831C>T (p.Leu611=) c.*994C>T (n.*994C>T) | gnomAD v4 |
1 | g.201075612G>C | CA344117638 | CACNA1S | c.1831C>G (p.Leu611Val) c.*994C>G (n.*994C>G) | gnomAD v4 |
1 | g.201075612G>T | CA344117643 | CACNA1S | c.1831C>A (p.Leu611Met) c.*994C>A (n.*994C>A) | |
1 | g.201075613T>A | CA422689108 | CACNA1S | c.1830A>T (p.Val610=) c.*993A>T (n.*993A>T) | |
1 | g.201075613T>C | CA422689107 | CACNA1S | c.1830A>G (p.Val610=) c.*993A>G (n.*993A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075613T>G | CA422689110 | CACNA1S | c.1830A>C (p.Val610=) c.*993A>C (n.*993A>C) | dbSNP |
1 | g.201075613T= | CA1219574633 | CACNA1S | c.1830A= (p.Val610=) c.*993A= (n.*993A=) | |
1 | g.201075614A= | CA1219574636 | CACNA1S | c.1829T= (p.Val610=) c.*992T= (n.*992T=) | |
1 | g.201075614A>C | CA344117646 | CACNA1S | c.1829T>G (p.Val610Gly) c.*992T>G (n.*992T>G) | |
1 | g.201075614A>G | CA078620 | CACNA1S | c.1829T>C (p.Val610Ala) c.*992T>C (n.*992T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075614A>T | CA344117671 | CACNA1S | c.1829T>A (p.Val610Glu) c.*992T>A (n.*992T>A) | gnomAD v4 |
1 | g.201075615C>A | CA078618 | CACNA1S | c.1828G>T (p.Val610Leu) c.*991G>T (n.*991G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075615C= | CA1219574639 | CACNA1S | c.1828G= (p.Val610=) c.*991G= (n.*991G=) | |
1 | g.201075615C>G | CA344117684 | CACNA1S | c.1828G>C (p.Val610Leu) c.*991G>C (n.*991G>C) | gnomAD v4 |
1 | g.201075615C>T | CA344117688 | CACNA1S | c.1828G>A (p.Val610Ile) c.*991G>A (n.*991G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.201075616C>A | CA344117711 | CACNA1S | c.1828-1G>T (n.1828-1G>T) c.*991-1G>T (n.*991-1G>T) | |
1 | g.201075616C>G | CA344117710 | CACNA1S | c.1828-1G>C (n.1828-1G>C) c.*991-1G>C (n.*991-1G>C) | |
1 | g.201075616C>T | CA344117703 | CACNA1S | c.1828-1G>A (n.1828-1G>A) c.*991-1G>A (n.*991-1G>A) | |
1 | g.201075617T>A | CA344117712 | CACNA1S | c.1828-2A>T (n.1828-2A>T) c.*991-2A>T (n.*991-2A>T) | |
1 | g.201075617T>C | CA344117717 | CACNA1S | c.1828-2A>G (n.1828-2A>G) c.*991-2A>G (n.*991-2A>G) | gnomAD v4 |
1 | g.201075617T>G | CA344117713 | CACNA1S | c.1828-2A>C (n.1828-2A>C) c.*991-2A>C (n.*991-2A>C) | |
1 | g.201075618G>A | CA1011168854 | CACNA1S | c.1828-3C>T (n.1828-3C>T) c.*991-3C>T (n.*991-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075618G= | CA1219574644 | CACNA1S | c.1828-3C= (n.1828-3C=) c.*991-3C= (n.*991-3C=) | |
1 | g.201075618G>T | CA528306094 | CACNA1S | c.1828-3C>A (n.1828-3C>A) c.*991-3C>A (n.*991-3C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075618_201075620delinsGTA | CA1219574643 | CACNA1S | c.1828-5_1828-3delinsTAC (n.1828-5_1828-3delinsTAC) c.*991-5_*991-3delinsTAC (n.*991-5_*991-3delinsTAC) | |
1 | g.201075618_201075631delinsGTATGGAGGGAGGA | CA1219574641 | CACNA1S | c.1828-16_1828-3delinsTCCTCCCTCCATAC (n.1828-16_1828-3delinsTCCTCCCTCCATAC) c.*991-16_*991-3delinsTCCTCCCTCCATAC (n.*991-16_*991-3delinsTCCTCCCTCCATAC) | |
1 | g.201075619T>C | CA1219574649 | CACNA1S | c.1828-4A>G (n.1828-4A>G) c.*991-4A>G (n.*991-4A>G) | dbSNP gnomAD v4 |
1 | g.201075619T>G | CA645526278 | CACNA1S | c.1828-4A>C (n.1828-4A>C) c.*991-4A>C (n.*991-4A>C) | COSMIC |
1 | g.201075619T= | CA1219574647 | CACNA1S | c.1828-4A= (n.1828-4A=) c.*991-4A= (n.*991-4A=) | |
1 | g.201075620_201075621del | CA1011168858 | CACNA1S | c.1828-5_1828-4del (n.1828-5_1828-4del) c.*991-5_*991-4del (n.*991-5_*991-4del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075621_201075633del | CA1219574645 | CACNA1S | c.1828-16_1828-4del (n.1828-16_1828-4del) c.*991-16_*991-4del (n.*991-16_*991-4del) | ClinVar dbSNP |
1 | g.201075620A= | CA1139907278 | CACNA1S | c.1828-5T= (n.1828-5T=) c.*991-5T= (n.*991-5T=) | |
1 | g.201075620A>C | CA2581713131 | CACNA1S | c.1828-5T>G (n.1828-5T>G) c.*991-5T>G (n.*991-5T>G) | |
1 | g.201075620A>G | CA078615 | CACNA1S | c.1828-5T>C (n.1828-5T>C) c.*991-5T>C (n.*991-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075620A>T | CA2581713130 | CACNA1S | c.1828-5T>A (n.1828-5T>A) c.*991-5T>A (n.*991-5T>A) | gnomAD v4 |
1 | g.201075621T>A | CA1219574655 | CACNA1S | c.1828-6A>T (n.1828-6A>T) c.*991-6A>T (n.*991-6A>T) | dbSNP |
1 | g.201075621T= | CA1219574656 | CACNA1S | c.1828-6A= (n.1828-6A=) c.*991-6A= (n.*991-6A=) | |
1 | g.201075622G>A | CA1219574658 | CACNA1S | c.1828-7C>T (n.1828-7C>T) c.*991-7C>T (n.*991-7C>T) | dbSNP |
1 | g.201075622G= | CA1219574657 | CACNA1S | c.1828-7C= (n.1828-7C=) c.*991-7C= (n.*991-7C=) | |
1 | g.201075622_201075633delinsGGAGGGAGGATA | CA1219574660 | CACNA1S | c.1828-18_1828-7delinsTATCCTCCCTCC (n.1828-18_1828-7delinsTATCCTCCCTCC) c.*991-18_*991-7delinsTATCCTCCCTCC (n.*991-18_*991-7delinsTATCCTCCCTCC) | |
1 | g.201075628_201075638del | CA1011168864 | CACNA1S | c.1828-18_1828-8del (n.1828-18_1828-8del) c.*991-18_*991-8del (n.*991-18_*991-8del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.201075624A= | CA1219574661 | CACNA1S | c.1828-9T= (n.1828-9T=) c.*991-9T= (n.*991-9T=) | |
1 | g.201075624A>C | CA078617 | CACNA1S | c.1828-9T>G (n.1828-9T>G) c.*991-9T>G (n.*991-9T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075624A>G | CA2649766037 | CACNA1S | c.1828-9T>C (n.1828-9T>C) c.*991-9T>C (n.*991-9T>C) | gnomAD v4 |
1 | g.201075624_201075625insTCTC | CA2747336686 | CACNA1S | c.1828-10_1828-9insGAGA (n.1828-10_1828-9insGAGA) c.*991-10_*991-9insGAGA (n.*991-10_*991-9insGAGA) | |
1 | g.201075628A= | CA1219574662 | CACNA1S | c.1828-13T= (n.1828-13T=) c.*991-13T= (n.*991-13T=) | |
1 | g.201075628A>T | CA528306097 | CACNA1S | c.1828-13T>A (n.1828-13T>A) c.*991-13T>A (n.*991-13T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201075629G>A | CA078602 | CACNA1S | c.1828-14C>T (n.1828-14C>T) c.*991-14C>T (n.*991-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075629G>C | CA646358325 | CACNA1S | c.1828-14C>G (n.1828-14C>G) c.*991-14C>G (n.*991-14C>G) | gnomAD v4 COSMIC |
1 | g.201075629G= | CA1145255379 | CACNA1S | c.1828-14C= (n.1828-14C=) c.*991-14C= (n.*991-14C=) | |
1 | g.201075629G>T | CA2649766038 | CACNA1S | c.1828-14C>A (n.1828-14C>A) c.*991-14C>A (n.*991-14C>A) | gnomAD v4 |
1 | g.201075630del | CA2649766039 | CACNA1S | c.1828-14del (n.1828-14del) c.*991-14del (n.*991-14del) | gnomAD v4 |
1 | g.201075630G>A | CA2825000905 | CACNA1S | c.1828-15C>T (n.1828-15C>T) c.*991-15C>T (n.*991-15C>T) | ClinVar |
1 | g.201075630G= | CA1219574664 | CACNA1S | c.1828-15C= (n.1828-15C=) c.*991-15C= (n.*991-15C=) | |
1 | g.201075630G>T | CA078603 | CACNA1S | c.1828-15C>A (n.1828-15C>A) c.*991-15C>A (n.*991-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201075631A>G | CA2649766040 | CACNA1S | c.1828-16T>C (n.1828-16T>C) c.*991-16T>C (n.*991-16T>C) | gnomAD v4 |
1 | g.201075632T>C | CA078604 | CACNA1S | c.1828-17A>G (n.1828-17A>G) c.*991-17A>G (n.*991-17A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201075632T= | CA1148473919 | CACNA1S | c.1828-17A= (n.1828-17A=) c.*991-17A= (n.*991-17A=) | |
1 | g.201075633A= | CA1219574668 | CACNA1S | c.1828-18T= (n.1828-18T=) c.*991-18T= (n.*991-18T=) | |
1 | g.201075633A>G | CA646358333 | CACNA1S | c.1828-18T>C (n.1828-18T>C) c.*991-18T>C (n.*991-18T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.201075634G>C | CA2649766041 | CACNA1S | c.1828-19C>G (n.1828-19C>G) c.*991-19C>G (n.*991-19C>G) | gnomAD v4 |
1 | g.201075635A>C | CA2649766042 | CACNA1S | c.1828-20T>G (n.1828-20T>G) c.*991-20T>G (n.*991-20T>G) | gnomAD v4 |
1 | g.201075635A>T | CA2747336687 | CACNA1S | c.1828-20T>A (n.1828-20T>A) c.*991-20T>A (n.*991-20T>A) |