Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38443612C>A | CA507239136 | RYR1 | c.325C>A (p.Arg109=) n.408C>A | |
19 | g.38443612C= | CA2335025761 | RYR1 | c.325C= (p.Arg109=) n.408C= | |
19 | g.38443612C>G | CA405675315 | RYR1 | c.325C>G (p.Arg109Gly) n.408C>G | |
19 | g.38443612C>T | CA024392 | RYR1 | c.325C>T (p.Arg109Trp) n.408C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38443613G>A | CA064636 | RYR1 | c.326G>A (p.Arg109Gln) n.409G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38443613G>C | CA405675329 | RYR1 | c.326G>C (p.Arg109Pro) n.409G>C | |
19 | g.38443613G= | CA2335025762 | RYR1 | c.326G= (p.Arg109=) n.409G= | |
19 | g.38443613G>T | CA405675332 | RYR1 | c.326G>T (p.Arg109Leu) n.409G>T | |
19 | g.38443614G>A | CA507239141 | RYR1 | c.327G>A (p.Arg109=) n.410G>A | |
19 | g.38443614G>C | CA507239142 | RYR1 | c.327G>C (p.Arg109=) n.410G>C | |
19 | g.38443614G= | CA2335025763 | RYR1 | c.327G= (p.Arg109=) n.410G= | |
19 | g.38443614G>T | CA507239143 | RYR1 | c.327G>T (p.Arg109=) n.410G>T | dbSNP |
19 | g.38443615C>A | CA405675336 | RYR1 | c.328C>A (p.His110Asn) n.411C>A | COSMIC |
19 | g.38443615C= | CA2335025764 | RYR1 | c.328C= (p.His110=) n.411C= | |
19 | g.38443615C>G | CA405675340 | RYR1 | c.328C>G (p.His110Asp) n.411C>G | |
19 | g.38443615C>T | CA064649 | RYR1 | c.328C>T (p.His110Tyr) n.411C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38443616A= | CA2335025765 | RYR1 | c.329A= (p.His110=) n.412A= | |
19 | g.38443616A>C | CA405675363 | RYR1 | c.329A>C (p.His110Pro) n.412A>C | |
19 | g.38443616A>G | CA405675350 | RYR1 | c.329A>G (p.His110Arg) n.412A>G | dbSNP gnomAD v4 |
19 | g.38443616A>T | CA405675358 | RYR1 | c.329A>T (p.His110Leu) n.412A>T | |
19 | g.38443617T>A | CA405675364 | RYR1 | c.330T>A (p.His110Gln) n.413T>A | ClinVar dbSNP |
19 | g.38443617T>C | CA507239146 | RYR1 | c.330T>C (p.His110=) n.413T>C | |
19 | g.38443617T>G | CA405675365 | RYR1 | c.330T>G (p.His110Gln) n.413T>G | |
19 | g.38443618G>A | CA405675368 | RYR1 | c.331G>A (p.Ala111Thr) n.414G>A | |
19 | g.38443618G>C | CA405675371 | RYR1 | c.331G>C (p.Ala111Pro) n.414G>C | |
19 | g.38443618G>T | CA405675372 | RYR1 | c.331G>T (p.Ala111Ser) n.414G>T | |
19 | g.38443619C>A | CA405675377 | RYR1 | c.332C>A (p.Ala111Glu) n.415C>A | |
19 | g.38443619C>G | CA405675381 | RYR1 | c.332C>G (p.Ala111Gly) n.415C>G | |
19 | g.38443619C>T | CA405675384 | RYR1 | c.332C>T (p.Ala111Val) n.415C>T | gnomAD v4 |
19 | g.38443620A>C | CA507239147 | RYR1 | c.333A>C (p.Ala111=) n.416A>C | |
19 | g.38443620A>G | CA507239148 | RYR1 | c.333A>G (p.Ala111=) n.416A>G | |
19 | g.38443620A>T | CA507239149 | RYR1 | c.333A>T (p.Ala111=) n.416A>T | |
19 | g.38443621C>A | CA405675387 | RYR1 | c.334C>A (p.His112Asn) n.417C>A | |
19 | g.38443621C= | CA2335025766 | RYR1 | c.334C= (p.His112=) n.417C= | |
19 | g.38443621C>G | CA405675393 | RYR1 | c.334C>G (p.His112Asp) n.417C>G | |
19 | g.38443621C>T | CA064700 | RYR1 | c.334C>T (p.His112Tyr) n.417C>T | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38443622A>C | CA405675408 | RYR1 | c.335A>C (p.His112Pro) n.418A>C | |
19 | g.38443622A>G | CA405675404 | RYR1 | c.335A>G (p.His112Arg) n.418A>G | |
19 | g.38443622A>T | CA405675400 | RYR1 | c.335A>T (p.His112Leu) n.418A>T | |
19 | g.38443623C>A | CA405675411 | RYR1 | c.336C>A (p.His112Gln) n.419C>A | |
19 | g.38443623C= | CA2335025767 | RYR1 | c.336C= (p.His112=) n.419C= | |
19 | g.38443623C>G | CA405675412 | RYR1 | c.336C>G (p.His112Gln) n.419C>G | gnomAD v4 |
19 | g.38443623C>T | CA507239155 | RYR1 | c.336C>T (p.His112=) n.419C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38443624A>C | CA405675415 | RYR1 | c.337A>C (p.Ser113Arg) n.420A>C | |
19 | g.38443624A>G | CA405675420 | RYR1 | c.337A>G (p.Ser113Gly) n.420A>G | |
19 | g.38443624A>T | CA405675421 | RYR1 | c.337A>T (p.Ser113Cys) n.420A>T | |
19 | g.38443625G>A | CA308111110 | RYR1 | c.338G>A (p.Ser113Asn) n.421G>A | dbSNP |
19 | g.38443625G>C | CA405675424 | RYR1 | c.338G>C (p.Ser113Thr) n.421G>C | |
19 | g.38443625G= | CA2335025768 | RYR1 | c.338G= (p.Ser113=) n.421G= | |
19 | g.38443625G>T | CA405675427 | RYR1 | c.338G>T (p.Ser113Ile) n.421G>T |