Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
15 | g.42359879A>C | CA391994143 | CAPN3 | c.74A>C (p.His25Pro) n.540+5426A>C | |
15 | g.42359879A>G | CA391994145 | CAPN3 | c.74A>G (p.His25Arg) n.540+5426A>G | gnomAD v4 |
15 | g.42359879A>T | CA391994147 | CAPN3 | c.74A>T (p.His25Leu) n.540+5426A>T | |
15 | g.42359880C>A | CA391994150 | CAPN3 | c.75C>A (p.His25Gln) n.540+5427C>A | |
15 | g.42359880C>G | CA391994152 | CAPN3 | c.75C>G (p.His25Gln) n.540+5427C>G | |
15 | g.42359880C>T | CA489998897 | CAPN3 | c.75C>T (p.His25=) n.540+5427C>T | ClinVar gnomAD v4 |
15 | g.42359881C>A | CA391994160 | CAPN3 | c.76C>A (p.Pro26Thr) n.540+5428C>A | |
15 | g.42359881C>G | CA391994158 | CAPN3 | c.76C>G (p.Pro26Ala) n.540+5428C>G | |
15 | g.42359881C>T | CA391994156 | CAPN3 | c.76C>T (p.Pro26Ser) n.540+5428C>T | |
15 | g.42359882C>A | CA391994162 | CAPN3 | c.77C>A (p.Pro26Gln) n.540+5429C>A | |
15 | g.42359882C= | CA2172697343 | CAPN3 | c.77C= (p.Pro26=) n.540+5429C= | |
15 | g.42359882C>G | CA7510846 | CAPN3 | c.77C>G (p.Pro26Arg) n.540+5429C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359882C>T | CA7510847 | CAPN3 | c.77C>T (p.Pro26Leu) n.540+5429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359883G>A | CA152142 | CAPN3 | c.78G>A (p.Pro26=) n.540+5430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359883G>C | CA489998898 | CAPN3 | c.78G>C (p.Pro26=) n.540+5430G>C | |
15 | g.42359883G= | CA2172697344 | CAPN3 | c.78G= (p.Pro26=) n.540+5430G= | |
15 | g.42359883G>T | CA7510848 | CAPN3 | c.78G>T (p.Pro26=) n.540+5430G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.42359884G>A | CA391994170 | CAPN3 | c.79G>A (p.Ala27Thr) n.540+5431G>A | |
15 | g.42359884G>C | CA391994173 | CAPN3 | c.79G>C (p.Ala27Pro) n.540+5431G>C | |
15 | g.42359884G>T | CA391994175 | CAPN3 | c.79G>T (p.Ala27Ser) n.540+5431G>T |