UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201075497T>A | CA344116487 | CACNA1S | c.1946A>T (p.Asn649Ile) c.*1109A>T (n.*1109A>T) | |
| 1 | g.201075497T>C | CA078679 | CACNA1S | c.1946A>G (p.Asn649Ser) c.*1109A>G (n.*1109A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201075497T>G | CA344116489 | CACNA1S | c.1946A>C (p.Asn649Thr) c.*1109A>C (n.*1109A>C) | |
| 1 | g.201075497T= | CA1219574397 | CACNA1S | c.1946A= (p.Asn649=) c.*1109A= (n.*1109A=) | |
| 1 | g.201075498T>A | CA344116490 | CACNA1S | c.1945A>T (p.Asn649Tyr) c.*1108A>T (n.*1108A>T) | |
| 1 | g.201075498T>C | CA344116492 | CACNA1S | c.1945A>G (p.Asn649Asp) c.*1108A>G (n.*1108A>G) | gnomAD v4 |
| 1 | g.201075498T>G | CA078677 | CACNA1S | c.1945A>C (p.Asn649His) c.*1108A>C (n.*1108A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075498T= | CA1219574400 | CACNA1S | c.1945A= (p.Asn649=) c.*1108A= (n.*1108A=) | |
| 1 | g.201075499G>A | CA078675 | CACNA1S | c.1944C>T (p.Gly648=) c.*1107C>T (n.*1107C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075499G>C | CA422688999 | CACNA1S | c.1944C>G (p.Gly648=) c.*1107C>G (n.*1107C>G) | |
| 1 | g.201075499G= | CA1142072778 | CACNA1S | c.1944C= (p.Gly648=) c.*1107C= (n.*1107C=) | |
| 1 | g.201075499G>T | CA422688998 | CACNA1S | c.1944C>A (p.Gly648=) c.*1107C>A (n.*1107C>A) | ClinVar gnomAD v4 |
| 1 | g.201075500C>A | CA344116513 | CACNA1S | c.1943G>T (p.Gly648Val) c.*1106G>T (n.*1106G>T) | |
| 1 | g.201075500C>G | CA344116506 | CACNA1S | c.1943G>C (p.Gly648Ala) c.*1106G>C (n.*1106G>C) | |
| 1 | g.201075500C>T | CA344116510 | CACNA1S | c.1943G>A (p.Gly648Asp) c.*1106G>A (n.*1106G>A) | |
| 1 | g.201075501C>A | CA344116522 | CACNA1S | c.1942G>T (p.Gly648Cys) c.*1105G>T (n.*1105G>T) | |
| 1 | g.201075501C>G | CA344116527 | CACNA1S | c.1942G>C (p.Gly648Arg) c.*1105G>C (n.*1105G>C) | |
| 1 | g.201075501C>T | CA344116530 | CACNA1S | c.1942G>A (p.Gly648Ser) c.*1105G>A (n.*1105G>A) | gnomAD v4 |
| 1 | g.201075502A= | CA1219574403 | CACNA1S | c.1941T= (p.Cys647=) c.*1104T= (n.*1104T=) | |
| 1 | g.201075502A>C | CA344116533 | CACNA1S | c.1941T>G (p.Cys647Trp) c.*1104T>G (n.*1104T>G) | |
| 1 | g.201075502A>G | CA422689003 | CACNA1S | c.1941T>C (p.Cys647=) c.*1104T>C (n.*1104T>C) | gnomAD v4 |
| 1 | g.201075502A>T | CA344116536 | CACNA1S | c.1941T>A (p.Cys647Ter) c.*1104T>A (n.*1104T>A) | dbSNP |
| 1 | g.201075503C>A | CA344116540 | CACNA1S | c.1940G>T (p.Cys647Phe) c.*1103G>T (n.*1103G>T) | |
| 1 | g.201075503C>G | CA344116542 | CACNA1S | c.1940G>C (p.Cys647Ser) c.*1103G>C (n.*1103G>C) | |
| 1 | g.201075503C>T | CA344116545 | CACNA1S | c.1940G>A (p.Cys647Tyr) c.*1103G>A (n.*1103G>A) | |
| 1 | g.201075504A= | CA1219574409 | CACNA1S | c.1939T= (p.Cys647=) c.*1102T= (n.*1102T=) | |
| 1 | g.201075504A>C | CA344116548 | CACNA1S | c.1939T>G (p.Cys647Gly) c.*1102T>G (n.*1102T>G) | |
| 1 | g.201075504A>G | CA344116550 | CACNA1S | c.1939T>C (p.Cys647Arg) c.*1102T>C (n.*1102T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201075504A>T | CA344116553 | CACNA1S | c.1939T>A (p.Cys647Ser) c.*1102T>A (n.*1102T>A) | |
| 1 | g.201075505G>A | CA422689010 | CACNA1S | c.1938C>T (p.Val646=) c.*1101C>T (n.*1101C>T) | |
| 1 | g.201075505G>C | CA422689012 | CACNA1S | c.1938C>G (p.Val646=) c.*1101C>G (n.*1101C>G) | |
| 1 | g.201075505G>T | CA422689008 | CACNA1S | c.1938C>A (p.Val646=) c.*1101C>A (n.*1101C>A) | |
| 1 | g.201075506A>C | CA344116558 | CACNA1S | c.1937T>G (p.Val646Gly) c.*1100T>G (n.*1100T>G) | |
| 1 | g.201075506A>G | CA344116554 | CACNA1S | c.1937T>C (p.Val646Ala) c.*1100T>C (n.*1100T>C) | gnomAD v4 |
| 1 | g.201075506A>T | CA344116555 | CACNA1S | c.1937T>A (p.Val646Asp) c.*1100T>A (n.*1100T>A) | |
| 1 | g.201075507C>A | CA078674 | CACNA1S | c.1936G>T (p.Val646Phe) c.*1099G>T (n.*1099G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201075507C= | CA1141707536 | CACNA1S | c.1936G= (p.Val646=) c.*1099G= (n.*1099G=) | |
| 1 | g.201075507C>G | CA344116566 | CACNA1S | c.1936G>C (p.Val646Leu) c.*1099G>C (n.*1099G>C) | |
| 1 | g.201075507C>T | CA078673 | CACNA1S | c.1936G>A (p.Val646Ile) c.*1099G>A (n.*1099G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.201075508G>A | CA078672 | CACNA1S | c.1935C>T (p.Phe645=) c.*1098C>T (n.*1098C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075508G>C | CA344116573 | CACNA1S | c.1935C>G (p.Phe645Leu) c.*1098C>G (n.*1098C>G) | |
| 1 | g.201075508G= | CA1146013842 | CACNA1S | c.1935C= (p.Phe645=) c.*1098C= (n.*1098C=) | |
| 1 | g.201075508G>T | CA344116576 | CACNA1S | c.1935C>A (p.Phe645Leu) c.*1098C>A (n.*1098C>A) | gnomAD v4 |
| 1 | g.201075509A>C | CA344116577 | CACNA1S | c.1934T>G (p.Phe645Cys) c.*1097T>G (n.*1097T>G) | |
| 1 | g.201075509A>G | CA344116578 | CACNA1S | c.1934T>C (p.Phe645Ser) c.*1097T>C (n.*1097T>C) | |
| 1 | g.201075509A>T | CA344116579 | CACNA1S | c.1934T>A (p.Phe645Tyr) c.*1097T>A (n.*1097T>A) | |
| 1 | g.201075510A>C | CA344116582 | CACNA1S | c.1933T>G (p.Phe645Val) c.*1096T>G (n.*1096T>G) | |
| 1 | g.201075510A>G | CA344116583 | CACNA1S | c.1933T>C (p.Phe645Leu) c.*1096T>C (n.*1096T>C) | |
| 1 | g.201075510A>T | CA344116587 | CACNA1S | c.1933T>A (p.Phe645Ile) c.*1096T>A (n.*1096T>A) | |
| 1 | g.201075510_201075520delinsAAAGGATGATG | CA1219574422 | CACNA1S | c.1923_1933delinsCATCATCCTTT (p.Phe641=) c.*1086_*1096delinsCATCATCCTTT (n.*1086_*1096delinsCATCATCCTTT) | |
| 1 | g.201075511A>C | CA422689017 | CACNA1S | c.1932T>G (p.Leu644=) c.*1095T>G (n.*1095T>G) | |
| 1 | g.201075511A>G | CA422689018 | CACNA1S | c.1932T>C (p.Leu644=) c.*1095T>C (n.*1095T>C) | |
| 1 | g.201075511A>T | CA422689019 | CACNA1S | c.1932T>A (p.Leu644=) c.*1095T>A (n.*1095T>A) | |
| 1 | g.201075514_201075523del | CA1011168754 | CACNA1S | c.1923_1932del (p.Ile642SerfsTer26) c.*1086_*1095del (n.*1086_*1095del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201075512A>C | CA344116597 | CACNA1S | c.1931T>G (p.Leu644Arg) c.*1094T>G (n.*1094T>G) | |
| 1 | g.201075512A>G | CA344116589 | CACNA1S | c.1931T>C (p.Leu644Pro) c.*1094T>C (n.*1094T>C) | |
| 1 | g.201075512A>T | CA344116591 | CACNA1S | c.1931T>A (p.Leu644His) c.*1094T>A (n.*1094T>A) | |
| 1 | g.201075513G>A | CA344116599 | CACNA1S | c.1930C>T (p.Leu644Phe) c.*1093C>T (n.*1093C>T) | dbSNP |
| 1 | g.201075513G>C | CA344116600 | CACNA1S | c.1930C>G (p.Leu644Val) c.*1093C>G (n.*1093C>G) | |
| 1 | g.201075513G= | CA1219574426 | CACNA1S | c.1930C= (p.Leu644=) c.*1093C= (n.*1093C=) | |
| 1 | g.201075513G>T | CA344116604 | CACNA1S | c.1930C>A (p.Leu644Ile) c.*1093C>A (n.*1093C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201075514G>A | CA422689021 | CACNA1S | c.1929C>T (p.Ile643=) c.*1092C>T (n.*1092C>T) | gnomAD v4 |
| 1 | g.201075514G>C | CA344116607 | CACNA1S | c.1929C>G (p.Ile643Met) c.*1092C>G (n.*1092C>G) | |
| 1 | g.201075514G>T | CA422689022 | CACNA1S | c.1929C>A (p.Ile643=) c.*1092C>A (n.*1092C>A) | |
| 1 | g.201075515A>C | CA344116608 | CACNA1S | c.1928T>G (p.Ile643Ser) c.*1091T>G (n.*1091T>G) | |
| 1 | g.201075515A>G | CA344116609 | CACNA1S | c.1928T>C (p.Ile643Thr) c.*1091T>C (n.*1091T>C) | |
| 1 | g.201075515A>T | CA344116611 | CACNA1S | c.1928T>A (p.Ile643Asn) c.*1091T>A (n.*1091T>A) | |
| 1 | g.201075516T>A | CA344116613 | CACNA1S | c.1927A>T (p.Ile643Phe) c.*1090A>T (n.*1090A>T) | |
| 1 | g.201075516T>C | CA344116633 | CACNA1S | c.1927A>G (p.Ile643Val) c.*1090A>G (n.*1090A>G) | dbSNP |
| 1 | g.201075516T>G | CA344116620 | CACNA1S | c.1927A>C (p.Ile643Leu) c.*1090A>C (n.*1090A>C) | |
| 1 | g.201075516T= | CA1219574428 | CACNA1S | c.1927A= (p.Ile643=) c.*1090A= (n.*1090A=) | |
| 1 | g.201075517G>A | CA422689025 | CACNA1S | c.1926C>T (p.Ile642=) c.*1089C>T (n.*1089C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201075517G>C | CA344116635 | CACNA1S | c.1926C>G (p.Ile642Met) c.*1089C>G (n.*1089C>G) | ClinVar dbSNP |
| 1 | g.201075517G= | CA1219574434 | CACNA1S | c.1926C= (p.Ile642=) c.*1089C= (n.*1089C=) | |
| 1 | g.201075517G>T | CA422689026 | CACNA1S | c.1926C>A (p.Ile642=) c.*1089C>A (n.*1089C>A) | |
| 1 | g.201075518A= | CA1219574437 | CACNA1S | c.1925T= (p.Ile642=) c.*1088T= (n.*1088T=) | |
| 1 | g.201075518A>C | CA344116637 | CACNA1S | c.1925T>G (p.Ile642Ser) c.*1088T>G (n.*1088T>G) | |
| 1 | g.201075518A>G | CA344116638 | CACNA1S | c.1925T>C (p.Ile642Thr) c.*1088T>C (n.*1088T>C) | dbSNP |
| 1 | g.201075518A>T | CA344116640 | CACNA1S | c.1925T>A (p.Ile642Asn) c.*1088T>A (n.*1088T>A) | gnomAD v4 |
| 1 | g.201075519T>A | CA344116648 | CACNA1S | c.1924A>T (p.Ile642Phe) c.*1087A>T (n.*1087A>T) | |
| 1 | g.201075519T>C | CA344116646 | CACNA1S | c.1924A>G (p.Ile642Val) c.*1087A>G (n.*1087A>G) | |
| 1 | g.201075519T>G | CA344116647 | CACNA1S | c.1924A>C (p.Ile642Leu) c.*1087A>C (n.*1087A>C) | |
| 1 | g.201075520G>A | CA422689028 | CACNA1S | c.1923C>T (p.Phe641=) c.*1086C>T (n.*1086C>T) | |
| 1 | g.201075520G>C | CA344116649 | CACNA1S | c.1923C>G (p.Phe641Leu) c.*1086C>G (n.*1086C>G) | |
| 1 | g.201075520G>T | CA344116653 | CACNA1S | c.1923C>A (p.Phe641Leu) c.*1086C>A (n.*1086C>A) | |
| 1 | g.201075521A>C | CA344116656 | CACNA1S | c.1922T>G (p.Phe641Cys) c.*1085T>G (n.*1085T>G) | |
| 1 | g.201075521A>G | CA344116658 | CACNA1S | c.1922T>C (p.Phe641Ser) c.*1085T>C (n.*1085T>C) | |
| 1 | g.201075521A>T | CA344116661 | CACNA1S | c.1922T>A (p.Phe641Tyr) c.*1085T>A (n.*1085T>A) | |
| 1 | g.201075522A>C | CA344116667 | CACNA1S | c.1921T>G (p.Phe641Val) c.*1084T>G (n.*1084T>G) | |
| 1 | g.201075522A>G | CA344116673 | CACNA1S | c.1921T>C (p.Phe641Leu) c.*1084T>C (n.*1084T>C) | |
| 1 | g.201075522A>T | CA344116675 | CACNA1S | c.1921T>A (p.Phe641Ile) c.*1084T>A (n.*1084T>A) | |
| 1 | g.201075523G>A | CA422689029 | CACNA1S | c.1920C>T (p.Tyr640=) c.*1083C>T (n.*1083C>T) | ClinVar gnomAD v4 COSMIC |
| 1 | g.201075523G>C | CA344116679 | CACNA1S | c.1920C>G (p.Tyr640Ter) c.*1083C>G (n.*1083C>G) | |
| 1 | g.201075523G>T | CA344116682 | CACNA1S | c.1920C>A (p.Tyr640Ter) c.*1083C>A (n.*1083C>A) | |
| 1 | g.201075524T>A | CA344116684 | CACNA1S | c.1919A>T (p.Tyr640Phe) c.*1082A>T (n.*1082A>T) | |
| 1 | g.201075524T>C | CA344116686 | CACNA1S | c.1919A>G (p.Tyr640Cys) c.*1082A>G (n.*1082A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075524T>G | CA344116692 | CACNA1S | c.1919A>C (p.Tyr640Ser) c.*1082A>C (n.*1082A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.201075524T= | CA1219574443 | CACNA1S | c.1919A= (p.Tyr640=) c.*1082A= (n.*1082A=) | |
| 1 | g.201075525A>C | CA344116698 | CACNA1S | c.1918T>G (p.Tyr640Asp) c.*1081T>G (n.*1081T>G) | |
| 1 | g.201075525A>G | CA344116704 | CACNA1S | c.1918T>C (p.Tyr640His) c.*1081T>C (n.*1081T>C) | |
| 1 | g.201075525A>T | CA344116701 | CACNA1S | c.1918T>A (p.Tyr640Asn) c.*1081T>A (n.*1081T>A) | |
| 1 | g.201075526A>C | CA344116707 | CACNA1S | c.1917T>G (p.Ile639Met) c.*1080T>G (n.*1080T>G) | |
| 1 | g.201075526A>G | CA422689030 | CACNA1S | c.1917T>C (p.Ile639=) c.*1080T>C (n.*1080T>C) | |
| 1 | g.201075526A>T | CA422689031 | CACNA1S | c.1917T>A (p.Ile639=) c.*1080T>A (n.*1080T>A) | |
| 1 | g.201075527A>C | CA344116709 | CACNA1S | c.1916T>G (p.Ile639Ser) c.*1079T>G (n.*1079T>G) | |
| 1 | g.201075527A>G | CA344116712 | CACNA1S | c.1916T>C (p.Ile639Thr) c.*1079T>C (n.*1079T>C) | |
| 1 | g.201075527A>T | CA344116717 | CACNA1S | c.1916T>A (p.Ile639Asn) c.*1079T>A (n.*1079T>A) | |
| 1 | g.201075528T>A | CA344116720 | CACNA1S | c.1915A>T (p.Ile639Phe) c.*1078A>T (n.*1078A>T) | |
| 1 | g.201075528T>C | CA078669 | CACNA1S | c.1915A>G (p.Ile639Val) c.*1078A>G (n.*1078A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075528T>G | CA344116723 | CACNA1S | c.1915A>C (p.Ile639Leu) c.*1078A>C (n.*1078A>C) | |
| 1 | g.201075528T= | CA1142799150 | CACNA1S | c.1915A= (p.Ile639=) c.*1078A= (n.*1078A=) | |
| 1 | g.201075529G>A | CA422689032 | CACNA1S | c.1914C>T (p.Cys638=) c.*1077C>T (n.*1077C>T) | dbSNP |
| 1 | g.201075529G>C | CA344116727 | CACNA1S | c.1914C>G (p.Cys638Trp) c.*1077C>G (n.*1077C>G) | |
| 1 | g.201075529G= | CA1219574451 | CACNA1S | c.1914C= (p.Cys638=) c.*1077C= (n.*1077C=) | |
| 1 | g.201075529G>T | CA344116732 | CACNA1S | c.1914C>A (p.Cys638Ter) c.*1077C>A (n.*1077C>A) | dbSNP |
| 1 | g.201075530C>A | CA078667 | CACNA1S | c.1913G>T (p.Cys638Phe) c.*1076G>T (n.*1076G>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.201075530C= | CA1219574456 | CACNA1S | c.1913G= (p.Cys638=) c.*1076G= (n.*1076G=) | |
| 1 | g.201075530C>G | CA344116740 | CACNA1S | c.1913G>C (p.Cys638Ser) c.*1076G>C (n.*1076G>C) | |
| 1 | g.201075530C>T | CA344116741 | CACNA1S | c.1913G>A (p.Cys638Tyr) c.*1076G>A (n.*1076G>A) | gnomAD v4 |
| 1 | g.201075531A= | CA1219574463 | CACNA1S | c.1912T= (p.Cys638=) c.*1075T= (n.*1075T=) | |
| 1 | g.201075531A>C | CA35976119 | CACNA1S | c.1912T>G (p.Cys638Gly) c.*1075T>G (n.*1075T>G) | dbSNP gnomAD v4 |
| 1 | g.201075531A>G | CA344116749 | CACNA1S | c.1912T>C (p.Cys638Arg) c.*1075T>C (n.*1075T>C) | |
| 1 | g.201075531A>T | CA078666 | CACNA1S | c.1912T>A (p.Cys638Ser) c.*1075T>A (n.*1075T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201075532C>A | CA422689035 | CACNA1S | c.1911G>T (p.Val637=) c.*1074G>T (n.*1074G>T) | |
| 1 | g.201075532C>G | CA422689034 | CACNA1S | c.1911G>C (p.Val637=) c.*1074G>C (n.*1074G>C) | |
| 1 | g.201075532C>T | CA422689033 | CACNA1S | c.1911G>A (p.Val637=) c.*1074G>A (n.*1074G>A) | |
| 1 | g.201075533A>C | CA344116752 | CACNA1S | c.1910T>G (p.Val637Gly) c.*1073T>G (n.*1073T>G) | |
| 1 | g.201075533A>G | CA344116753 | CACNA1S | c.1910T>C (p.Val637Ala) c.*1073T>C (n.*1073T>C) | |
| 1 | g.201075533A>T | CA344116759 | CACNA1S | c.1910T>A (p.Val637Glu) c.*1073T>A (n.*1073T>A) | |
| 1 | g.201075534C>A | CA344116761 | CACNA1S | c.1909G>T (p.Val637Leu) c.*1072G>T (n.*1072G>T) | |
| 1 | g.201075534C>G | CA344116765 | CACNA1S | c.1909G>C (p.Val637Leu) c.*1072G>C (n.*1072G>C) | |
| 1 | g.201075534C>T | CA344116766 | CACNA1S | c.1909G>A (p.Val637Met) c.*1072G>A (n.*1072G>A) | |
| 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) | 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) | 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) | |
| 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) | 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) | 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) | |
| 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) | 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) |