| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201075494C>A | CA344116447 | CACNA1S | c.1948+1G>T (n.1948+1G>T) c.*1111+1G>T (n.*1111+1G>T) | gnomAD v4 |
| 1 | g.201075494C= | CA1148256468 | CACNA1S | c.1948+1G= (n.1948+1G=) c.*1111+1G= (n.*1111+1G=) | |
| 1 | g.201075494C>G | CA344116458 | CACNA1S | c.1948+1G>C (n.1948+1G>C) c.*1111+1G>C (n.*1111+1G>C) | |
| 1 | g.201075494C>T | CA078688 | CACNA1S | c.1948+1G>A (n.1948+1G>A) c.*1111+1G>A (n.*1111+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201075495A= | CA1219574393 | CACNA1S | c.1948T= (p.Tyr650=) c.*1111T= (n.*1111T=) | |
| 1 | g.201075495A>C | CA078708 | CACNA1S | c.1948T>G (p.Tyr650Asp) c.*1111T>G (n.*1111T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201075495A>G | CA344116464 | CACNA1S | c.1948T>C (p.Tyr650His) c.*1111T>C (n.*1111T>C) | |
| 1 | g.201075495A>T | CA344116467 | CACNA1S | c.1948T>A (p.Tyr650Asn) c.*1111T>A (n.*1111T>A) | |
| 1 | g.201075496G>A | CA35976044 | CACNA1S | c.1947C>T (p.Asn649=) c.*1110C>T (n.*1110C>T) | dbSNP |
| 1 | g.201075496G>C | CA344116471 | CACNA1S | c.1947C>G (p.Asn649Lys) c.*1110C>G (n.*1110C>G) | gnomAD v4 |
| 1 | g.201075496G= | CA1219574395 | CACNA1S | c.1947C= (p.Asn649=) c.*1110C= (n.*1110C=) | |
| 1 | g.201075496G>T | CA344116482 | CACNA1S | c.1947C>A (p.Asn649Lys) c.*1110C>A (n.*1110C>A) | |
| 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) |