| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201076930C>A | CA344119388 | CACNA1S | c.1817G>T (p.Ser606Ile) c.*980G>T (n.*980G>T) | |
| 1 | g.201076930C= | CA1141862144 | CACNA1S | c.1817G= (p.Ser606=) c.*980G= (n.*980G=) | |
| 1 | g.201076930C>G | CA344119376 | CACNA1S | c.1817G>C (p.Ser606Thr) c.*980G>C (n.*980G>C) | |
| 1 | g.201076930C>T | CA078580 | CACNA1S | c.1817G>A (p.Ser606Asn) c.*980G>A (n.*980G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076931T>A | CA344119393 | CACNA1S | c.1816A>T (p.Ser606Cys) c.*979A>T (n.*979A>T) | |
| 1 | g.201076931T>C | CA344119398 | CACNA1S | c.1816A>G (p.Ser606Gly) c.*979A>G (n.*979A>G) | |
| 1 | g.201076931T>G | CA344119405 | CACNA1S | c.1816A>C (p.Ser606Arg) c.*979A>C (n.*979A>C) | |
| 1 | g.201076932G>A | CA078579 | CACNA1S | c.1815C>T (p.Ile605=) c.*978C>T (n.*978C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076932G>C | CA344119409 | CACNA1S | c.1815C>G (p.Ile605Met) c.*978C>G (n.*978C>G) | |
| 1 | g.201076932G= | CA1219584747 | CACNA1S | c.1815C= (p.Ile605=) c.*978C= (n.*978C=) | |
| 1 | g.201076932G>T | CA422689368 | CACNA1S | c.1815C>A (p.Ile605=) c.*978C>A (n.*978C>A) | |
| 1 | g.201076933A>C | CA344119414 | CACNA1S | c.1814T>G (p.Ile605Ser) c.*977T>G (n.*977T>G) | |
| 1 | g.201076933A>G | CA344119410 | CACNA1S | c.1814T>C (p.Ile605Thr) c.*977T>C (n.*977T>C) | |
| 1 | g.201076933A>T | CA344119412 | CACNA1S | c.1814T>A (p.Ile605Asn) c.*977T>A (n.*977T>A) | |
| 1 | g.201076934T>A | CA344119418 | CACNA1S | c.1813A>T (p.Ile605Phe) c.*976A>T (n.*976A>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201076934T>C | CA078577 | CACNA1S | c.1813A>G (p.Ile605Val) c.*976A>G (n.*976A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201076934T>G | CA344119427 | CACNA1S | c.1813A>C (p.Ile605Leu) c.*976A>C (n.*976A>C) | |
| 1 | g.201076934T= | CA1145987861 | CACNA1S | c.1813A= (p.Ile605=) c.*976A= (n.*976A=) | |
| 1 | g.201076935G>A | CA078575 | CACNA1S | c.1812C>T (p.Leu604=) c.*975C>T (n.*975C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201076935G>C | CA422689369 | CACNA1S | c.1812C>G (p.Leu604=) c.*975C>G (n.*975C>G) | |
| 1 | g.201076935G= | CA1148295431 | CACNA1S | c.1812C= (p.Leu604=) c.*975C= (n.*975C=) | |
| 1 | g.201076935G>T | CA422689370 | CACNA1S | c.1812C>A (p.Leu604=) c.*975C>A (n.*975C>A) | |
| 1 | g.201076936A>C | CA344119434 | CACNA1S | c.1811T>G (p.Leu604Arg) c.*974T>G (n.*974T>G) | |
| 1 | g.201076936A>G | CA344119435 | CACNA1S | c.1811T>C (p.Leu604Pro) c.*974T>C (n.*974T>C) | |
| 1 | g.201076936A>T | CA344119436 | CACNA1S | c.1811T>A (p.Leu604His) c.*974T>A (n.*974T>A) | |
| 1 | g.201076937G>A | CA344119437 | CACNA1S | c.1810C>T (p.Leu604Phe) c.*973C>T (n.*973C>T) | dbSNP gnomAD v4 |
| 1 | g.201076937G>C | CA344119441 | CACNA1S | c.1810C>G (p.Leu604Val) c.*973C>G (n.*973C>G) | gnomAD v4 |
| 1 | g.201076937G= | CA1219584748 | CACNA1S | c.1810C= (p.Leu604=) c.*973C= (n.*973C=) | |
| 1 | g.201076937G>T | CA344119445 | CACNA1S | c.1810C>A (p.Leu604Ile) c.*973C>A (n.*973C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076938G>A | CA422689373 | CACNA1S | c.1809C>T (p.Ala603=) c.*972C>T (n.*972C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201076938G>C | CA422689372 | CACNA1S | c.1809C>G (p.Ala603=) c.*972C>G (n.*972C>G) | |
| 1 | g.201076938G= | CA1219584749 | CACNA1S | c.1809C= (p.Ala603=) c.*972C= (n.*972C=) | |
| 1 | g.201076938G>T | CA422689371 | CACNA1S | c.1809C>A (p.Ala603=) c.*972C>A (n.*972C>A) | |
| 1 | g.201076939G>A | CA344119451 | CACNA1S | c.1808C>T (p.Ala603Val) c.*971C>T (n.*971C>T) | COSMIC |
| 1 | g.201076939G>C | CA344119456 | CACNA1S | c.1808C>G (p.Ala603Gly) c.*971C>G (n.*971C>G) | dbSNP gnomAD v2 |
| 1 | g.201076939G= | CA1219584750 | CACNA1S | c.1808C= (p.Ala603=) c.*971C= (n.*971C=) | |
| 1 | g.201076939G>T | CA344119459 | CACNA1S | c.1808C>A (p.Ala603Asp) c.*971C>A (n.*971C>A) | dbSNP |
| 1 | g.201076940C>A | CA344119462 | CACNA1S | c.1807G>T (p.Ala603Ser) c.*970G>T (n.*970G>T) | |
| 1 | g.201076940C>G | CA344119477 | CACNA1S | c.1807G>C (p.Ala603Pro) c.*970G>C (n.*970G>C) | |
| 1 | g.201076940C>T | CA344119467 | CACNA1S | c.1807G>A (p.Ala603Thr) c.*970G>A (n.*970G>A) | |
| 1 | g.201076941T>A | CA344119489 | CACNA1S | c.1806A>T (p.Gln602His) c.*969A>T (n.*969A>T) | |
| 1 | g.201076941T>C | CA422689374 | CACNA1S | c.1806A>G (p.Gln602=) c.*969A>G (n.*969A>G) | gnomAD v4 |
| 1 | g.201076941T>G | CA344119493 | CACNA1S | c.1806A>C (p.Gln602His) c.*969A>C (n.*969A>C) | |
| 1 | g.201076942T>A | CA344119505 | CACNA1S | c.1805A>T (p.Gln602Leu) c.*968A>T (n.*968A>T) | |
| 1 | g.201076942T>C | CA344119507 | CACNA1S | c.1805A>G (p.Gln602Arg) c.*968A>G (n.*968A>G) | |
| 1 | g.201076942T>G | CA344119513 | CACNA1S | c.1805A>C (p.Gln602Pro) c.*968A>C (n.*968A>C) | |
| 1 | g.201076943G>A | CA344119519 | CACNA1S | c.1804C>T (p.Gln602Ter) c.*967C>T (n.*967C>T) | |
| 1 | g.201076943G>C | CA344119522 | CACNA1S | c.1804C>G (p.Gln602Glu) c.*967C>G (n.*967C>G) | dbSNP gnomAD v4 |
| 1 | g.201076943G= | CA1219584751 | CACNA1S | c.1804C= (p.Gln602=) c.*967C= (n.*967C=) | |
| 1 | g.201076943G>T | CA344119523 | CACNA1S | c.1804C>A (p.Gln602Lys) c.*967C>A (n.*967C>A) |