Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.201077915C>A | CA35978916 | CACNA1S | c.1583G>T (p.Arg528Leu) c.*746G>T (n.*746G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.201077915C= | CA1141188104 | CACNA1S | c.1583G= (p.Arg528=) c.*746G= (n.*746G=) | |
1 | g.201077915C>G | CA344121231 | CACNA1S | c.1583G>C (p.Arg528Pro) c.*746G>C (n.*746G>C) | |
1 | g.201077915C>T | CA004021 | CACNA1S | c.1583G>A (p.Arg528His) c.*746G>A (n.*746G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.201077916G>A | CA078419 | CACNA1S | c.1582C>T (p.Arg528Cys) c.*745C>T (n.*745C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201077916G>C | CA004020 | CACNA1S | c.1582C>G (p.Arg528Gly) c.*745C>G (n.*745C>G) | ClinVar dbSNP |
1 | g.201077916G= | CA1141188105 | CACNA1S | c.1582C= (p.Arg528=) c.*745C= (n.*745C=) | |
1 | g.201077916G>T | CA344121244 | CACNA1S | c.1582C>A (p.Arg528Ser) c.*745C>A (n.*745C>A) | dbSNP |
1 | g.201077917G>A | CA422814955 | CACNA1S | c.1581C>T (p.Leu527=) c.*744C>T (n.*744C>T) | |
1 | g.201077917G>C | CA422814953 | CACNA1S | c.1581C>G (p.Leu527=) c.*744C>G (n.*744C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.201077917G= | CA1219585158 | CACNA1S | c.1581C= (p.Leu527=) c.*744C= (n.*744C=) | |
1 | g.201077917G>T | CA422814957 | CACNA1S | c.1581C>A (p.Leu527=) c.*744C>A (n.*744C>A) | gnomAD v4 |
1 | g.201077918A>C | CA344121254 | CACNA1S | c.1580T>G (p.Leu527Arg) c.*743T>G (n.*743T>G) | |
1 | g.201077918A>G | CA344121257 | CACNA1S | c.1580T>C (p.Leu527Pro) c.*743T>C (n.*743T>C) | |
1 | g.201077918A>T | CA344121251 | CACNA1S | c.1580T>A (p.Leu527His) c.*743T>A (n.*743T>A) | |
1 | g.201077919G>A | CA078414 | CACNA1S | c.1579C>T (p.Leu527Phe) c.*742C>T (n.*742C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201077919G>C | CA344121263 | CACNA1S | c.1579C>G (p.Leu527Val) c.*742C>G (n.*742C>G) | |
1 | g.201077919G= | CA1219585159 | CACNA1S | c.1579C= (p.Leu527=) c.*742C= (n.*742C=) | |
1 | g.201077919G>T | CA344121260 | CACNA1S | c.1579C>A (p.Leu527Ile) c.*742C>A (n.*742C>A) | |
1 | g.201077920C>A | CA422814959 | CACNA1S | c.1578G>T (p.Val526=) c.*741G>T (n.*741G>T) | |
1 | g.201077920C>G | CA422814961 | CACNA1S | c.1578G>C (p.Val526=) c.*741G>C (n.*741G>C) | gnomAD v4 |
1 | g.201077920C>T | CA422814963 | CACNA1S | c.1578G>A (p.Val526=) c.*741G>A (n.*741G>A) | |
1 | g.201077921A>C | CA344121265 | CACNA1S | c.1577T>G (p.Val526Gly) c.*740T>G (n.*740T>G) | gnomAD v4 |
1 | g.201077921A>G | CA344121268 | CACNA1S | c.1577T>C (p.Val526Ala) c.*740T>C (n.*740T>C) | |
1 | g.201077921A>T | CA344121271 | CACNA1S | c.1577T>A (p.Val526Glu) c.*740T>A (n.*740T>A) | |
1 | g.201077922del | CA2649763418 | CACNA1S | c.1576del (p.Val526CysfsTer8) c.*739del (n.*739del) | gnomAD v4 |
1 | g.201077922C>A | CA344121283 | CACNA1S | c.1576G>T (p.Val526Leu) c.*739G>T (n.*739G>T) | |
1 | g.201077922C= | CA1146516716 | CACNA1S | c.1576G= (p.Val526=) c.*739G= (n.*739G=) | |
1 | g.201077922C>G | CA344121287 | CACNA1S | c.1576G>C (p.Val526Leu) c.*739G>C (n.*739G>C) | |
1 | g.201077922C>T | CA078411 | CACNA1S | c.1576G>A (p.Val526Met) c.*739G>A (n.*739G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.201077923G>A | CA078409 | CACNA1S | c.1575C>T (p.Ser525=) c.*738C>T (n.*738C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.201077923G>C | CA078407 | CACNA1S | c.1575C>G (p.Ser525=) c.*738C>G (n.*738C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.201077923G= | CA1219585160 | CACNA1S | c.1575C= (p.Ser525=) c.*738C= (n.*738C=) | |
1 | g.201077923G>T | CA422814965 | CACNA1S | c.1575C>A (p.Ser525=) c.*738C>A (n.*738C>A) | |
1 | g.201077924G>A | CA344121293 | CACNA1S | c.1574C>T (p.Ser525Phe) c.*737C>T (n.*737C>T) | |
1 | g.201077924G>C | CA344121296 | CACNA1S | c.1574C>G (p.Ser525Cys) c.*737C>G (n.*737C>G) | |
1 | g.201077924G>T | CA344121297 | CACNA1S | c.1574C>A (p.Ser525Tyr) c.*737C>A (n.*737C>A) | |
1 | g.201077925A>C | CA344121305 | CACNA1S | c.1573T>G (p.Ser525Ala) c.*736T>G (n.*736T>G) | |
1 | g.201077925A>G | CA344121301 | CACNA1S | c.1573T>C (p.Ser525Pro) c.*736T>C (n.*736T>C) | gnomAD v4 |
1 | g.201077925A>T | CA344121302 | CACNA1S | c.1573T>A (p.Ser525Thr) c.*736T>A (n.*736T>A) | |
1 | g.201077926G>A | CA422814968 | CACNA1S | c.1572C>T (p.Ile524=) c.*735C>T (n.*735C>T) | |
1 | g.201077926G>C | CA344121307 | CACNA1S | c.1572C>G (p.Ile524Met) c.*735C>G (n.*735C>G) | |
1 | g.201077926G>T | CA422814967 | CACNA1S | c.1572C>A (p.Ile524=) c.*735C>A (n.*735C>A) | |
1 | g.201077927A= | CA1148398839 | CACNA1S | c.1571T= (p.Ile524=) c.*734T= (n.*734T=) | |
1 | g.201077927A>C | CA344121310 | CACNA1S | c.1571T>G (p.Ile524Ser) c.*734T>G (n.*734T>G) | |
1 | g.201077927A>G | CA078405 | CACNA1S | c.1571T>C (p.Ile524Thr) c.*734T>C (n.*734T>C) | dbSNP ExAC gnomAD v4 |
1 | g.201077927A>T | CA344121315 | CACNA1S | c.1571T>A (p.Ile524Asn) c.*734T>A (n.*734T>A) | |
1 | g.201077928T>A | CA344121318 | CACNA1S | c.1570A>T (p.Ile524Phe) c.*733A>T (n.*733A>T) | |
1 | g.201077928T>C | CA344121321 | CACNA1S | c.1570A>G (p.Ile524Val) c.*733A>G (n.*733A>G) | |
1 | g.201077928T>G | CA344121322 | CACNA1S | c.1570A>C (p.Ile524Leu) c.*733A>C (n.*733A>C) |