Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.42359866G>A | CA391994088 | CAPN3 | c.61G>A (p.Gly21Arg) n.540+5413G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359866G>C | CA391994090 | CAPN3 | c.61G>C (p.Gly21Arg) n.540+5413G>C | |
15 | g.42359866G= | CA2172697336 | CAPN3 | c.61G= (p.Gly21=) n.540+5413G= | |
15 | g.42359866G>T | CA10605072 | CAPN3 | c.61G>T (p.Gly21Trp) n.540+5413G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.42359868del | CA2697554355 | CAPN3 | c.63del (p.Pro22GlnfsTer?) n.540+5415del | ClinVar |
15 | g.42359867G>A | CA145724 | CAPN3 | c.62G>A (p.Gly21Glu) n.540+5414G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359867G>C | CA391994097 | CAPN3 | c.62G>C (p.Gly21Ala) n.540+5414G>C | |
15 | g.42359867G= | CA2172697337 | CAPN3 | c.62G= (p.Gly21=) n.540+5414G= | |
15 | g.42359867G>T | CA391994095 | CAPN3 | c.62G>T (p.Gly21Val) n.540+5414G>T | |
15 | g.42359868G>A | CA489998887 | CAPN3 | c.63G>A (p.Gly21=) n.540+5415G>A | ClinVar dbSNP gnomAD v4 |
15 | g.42359868G>C | CA489998886 | CAPN3 | c.63G>C (p.Gly21=) n.540+5415G>C | |
15 | g.42359868G= | CA2172697338 | CAPN3 | c.63G= (p.Gly21=) n.540+5415G= | |
15 | g.42359868G>T | CA489998885 | CAPN3 | c.63G>T (p.Gly21=) n.540+5415G>T | |
15 | g.42359869C>A | CA391994101 | CAPN3 | c.64C>A (p.Pro22Thr) n.540+5416C>A | dbSNP |
15 | g.42359869C= | CA2172697339 | CAPN3 | c.64C= (p.Pro22=) n.540+5416C= | |
15 | g.42359869C>G | CA391994103 | CAPN3 | c.64C>G (p.Pro22Ala) n.540+5416C>G | |
15 | g.42359869C>T | CA391994104 | CAPN3 | c.64C>T (p.Pro22Ser) n.540+5416C>T | |
15 | g.42359870C>A | CA391994106 | CAPN3 | c.65C>A (p.Pro22Gln) n.540+5417C>A | |
15 | g.42359870C>G | CA391994107 | CAPN3 | c.65C>G (p.Pro22Arg) n.540+5417C>G | |
15 | g.42359870C>T | CA391994108 | CAPN3 | c.65C>T (p.Pro22Leu) n.540+5417C>T | |
15 | g.42359871A>C | CA489998888 | CAPN3 | c.66A>C (p.Pro22=) n.540+5418A>C | |
15 | g.42359871A>G | CA489998889 | CAPN3 | c.66A>G (p.Pro22=) n.540+5418A>G | ClinVar |
15 | g.42359871A>T | CA489998890 | CAPN3 | c.66A>T (p.Pro22=) n.540+5418A>T | |
15 | g.42359872G>A | CA391994113 | CAPN3 | c.67G>A (p.Val23Ile) n.540+5419G>A | |
15 | g.42359872G>C | CA7510844 | CAPN3 | c.67G>C (p.Val23Leu) n.540+5419G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359872G= | CA2172697340 | CAPN3 | c.67G= (p.Val23=) n.540+5419G= | |
15 | g.42359872G>T | CA391994109 | CAPN3 | c.67G>T (p.Val23Phe) n.540+5419G>T | |
15 | g.42359873T>A | CA391994116 | CAPN3 | c.68T>A (p.Val23Asp) n.540+5420T>A | |
15 | g.42359873T>C | CA391994120 | CAPN3 | c.68T>C (p.Val23Ala) n.540+5420T>C | |
15 | g.42359873T>G | CA391994118 | CAPN3 | c.68T>G (p.Val23Gly) n.540+5420T>G | gnomAD v4 |
15 | g.42359874T>A | CA489998891 | CAPN3 | c.69T>A (p.Val23=) n.540+5421T>A | |
15 | g.42359874T>C | CA489998892 | CAPN3 | c.69T>C (p.Val23=) n.540+5421T>C | |
15 | g.42359874T>G | CA489998893 | CAPN3 | c.69T>G (p.Val23=) n.540+5421T>G | |
15 | g.42359875C>A | CA391994122 | CAPN3 | c.70C>A (p.Pro24Thr) n.540+5422C>A | |
15 | g.42359875C>G | CA391994126 | CAPN3 | c.70C>G (p.Pro24Ala) n.540+5422C>G | |
15 | g.42359875C>T | CA391994123 | CAPN3 | c.70C>T (p.Pro24Ser) n.540+5422C>T | COSMIC COSMIC COSMIC |
15 | g.42359875_42359876del | CA2695219973 | CAPN3 | c.70_71del (p.Pro24SerfsTer9) n.540+5422_540+5423del | |
15 | g.42359877_42359886del | CA912980490 | CAPN3 | c.72_81del (p.His25ArgfsTer29) n.540+5424_540+5433del | |
15 | g.42359876C>A | CA391994129 | CAPN3 | c.71C>A (p.Pro24His) n.540+5423C>A | |
15 | g.42359876C>G | CA391994132 | CAPN3 | c.71C>G (p.Pro24Arg) n.540+5423C>G | |
15 | g.42359876C>T | CA391994134 | CAPN3 | c.71C>T (p.Pro24Leu) n.540+5423C>T | dbSNP |
15 | g.42359877T>A | CA489998894 | CAPN3 | c.72T>A (p.Pro24=) n.540+5424T>A | |
15 | g.42359877T>C | CA489998895 | CAPN3 | c.72T>C (p.Pro24=) n.540+5424T>C | gnomAD v4 |
15 | g.42359877T>G | CA489998896 | CAPN3 | c.72T>G (p.Pro24=) n.540+5424T>G | |
15 | g.42359877_42359886delinsTCACCCGGCC | CA2172697341 | CAPN3 | c.72_81delinsTCACCCGGCC (p.Pro24=) n.540+5424_540+5433delinsTCACCCGGCC | |
15 | g.42359878C>A | CA391994137 | CAPN3 | c.73C>A (p.His25Asn) n.540+5425C>A | |
15 | g.42359878C= | CA2172697342 | CAPN3 | c.73C= (p.His25=) n.540+5425C= | |
15 | g.42359878C>G | CA391994139 | CAPN3 | c.73C>G (p.His25Asp) n.540+5425C>G | |
15 | g.42359878C>T | CA7510845 | CAPN3 | c.73C>T (p.His25Tyr) n.540+5425C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359880_42359888del | CA658823858 | CAPN3 | c.75_83del (p.His25_Ala27del) n.540+5427_540+5435del | ClinVar dbSNP gnomAD v3 gnomAD v4 |