UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42359842A>C | CA391993979 | CAPN3 | c.37A>C (p.Thr13Pro) n.540+5389A>C | |
| 15 | g.42359842A>G | CA391993981 | CAPN3 | c.37A>G (p.Thr13Ala) n.540+5389A>G | |
| 15 | g.42359842A>T | CA391993976 | CAPN3 | c.37A>T (p.Thr13Ser) n.540+5389A>T | |
| 15 | g.42359843C>A | CA391993990 | CAPN3 | c.38C>A (p.Thr13Lys) n.540+5390C>A | |
| 15 | g.42359843C>G | CA391993985 | CAPN3 | c.38C>G (p.Thr13Arg) n.540+5390C>G | |
| 15 | g.42359843C>T | CA391993987 | CAPN3 | c.38C>T (p.Thr13Ile) n.540+5390C>T | |
| 15 | g.42359844A>C | CA489998864 | CAPN3 | c.39A>C (p.Thr13=) n.540+5391A>C | |
| 15 | g.42359844A>G | CA489998865 | CAPN3 | c.39A>G (p.Thr13=) n.540+5391A>G | ClinVar |
| 15 | g.42359844A>T | CA489998866 | CAPN3 | c.39A>T (p.Thr13=) n.540+5391A>T | |
| 15 | g.42359845G>A | CA391993993 | CAPN3 | c.40G>A (p.Ala14Thr) n.540+5392G>A | gnomAD v4 |
| 15 | g.42359845G>C | CA391993995 | CAPN3 | c.40G>C (p.Ala14Pro) n.540+5392G>C | |
| 15 | g.42359845G= | CA2172697317 | CAPN3 | c.40G= (p.Ala14=) n.540+5392G= | |
| 15 | g.42359845G>T | CA391993997 | CAPN3 | c.40G>T (p.Ala14Ser) n.540+5392G>T | dbSNP |
| 15 | g.42359846C>A | CA391994000 | CAPN3 | c.41C>A (p.Ala14Glu) n.540+5393C>A | ClinVar |
| 15 | g.42359846C= | CA2172697318 | CAPN3 | c.41C= (p.Ala14=) n.540+5393C= | |
| 15 | g.42359846C>G | CA391994003 | CAPN3 | c.41C>G (p.Ala14Gly) n.540+5393C>G | |
| 15 | g.42359846C>T | CA7510835 | CAPN3 | c.41C>T (p.Ala14Val) n.540+5393C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359847G>A | CA7510836 | CAPN3 | c.42G>A (p.Ala14=) n.540+5394G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42359847G>C | CA489998868 | CAPN3 | c.42G>C (p.Ala14=) n.540+5394G>C | ClinVar dbSNP |
| 15 | g.42359847G= | CA2172697319 | CAPN3 | c.42G= (p.Ala14=) n.540+5394G= | |
| 15 | g.42359847G>T | CA489998867 | CAPN3 | c.42G>T (p.Ala14=) n.540+5394G>T | |
| 15 | g.42359848del | CA2695219972 | CAPN3 | c.43del (p.Ala15LeufsTer?) n.540+5395del | |
| 15 | g.42359848G>A | CA391994008 | CAPN3 | c.43G>A (p.Ala15Thr) n.540+5395G>A | gnomAD v4 |
| 15 | g.42359848G>C | CA391994010 | CAPN3 | c.43G>C (p.Ala15Pro) n.540+5395G>C | |
| 15 | g.42359848G= | CA2172697320 | CAPN3 | c.43G= (p.Ala15=) n.540+5395G= | |
| 15 | g.42359848G>T | CA7510837 | CAPN3 | c.43G>T (p.Ala15Ser) n.540+5395G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359849C>A | CA269853650 | CAPN3 | c.44C>A (p.Ala15Asp) n.540+5396C>A | dbSNP |
| 15 | g.42359849C= | CA2172697321 | CAPN3 | c.44C= (p.Ala15=) n.540+5396C= | |
| 15 | g.42359849C>G | CA391994018 | CAPN3 | c.44C>G (p.Ala15Gly) n.540+5396C>G | |
| 15 | g.42359849C>T | CA391994014 | CAPN3 | c.44C>T (p.Ala15Val) n.540+5396C>T | |
| 15 | g.42359850T>A | CA489998871 | CAPN3 | c.45T>A (p.Ala15=) n.540+5397T>A | |
| 15 | g.42359850T>C | CA489998869 | CAPN3 | c.45T>C (p.Ala15=) n.540+5397T>C | |
| 15 | g.42359850T>G | CA489998870 | CAPN3 | c.45T>G (p.Ala15=) n.540+5397T>G | |
| 15 | g.42359851G>A | CA7510838 | CAPN3 | c.46G>A (p.Glu16Lys) n.540+5398G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42359851G>C | CA391994022 | CAPN3 | c.46G>C (p.Glu16Gln) n.540+5398G>C | |
| 15 | g.42359851G= | CA2172697322 | CAPN3 | c.46G= (p.Glu16=) n.540+5398G= | |
| 15 | g.42359851G>T | CA391994024 | CAPN3 | c.46G>T (p.Glu16Ter) n.540+5398G>T | |
| 15 | g.42359852A= | CA2172697323 | CAPN3 | c.47A= (p.Glu16=) n.540+5399A= | |
| 15 | g.42359852A>C | CA7510839 | CAPN3 | c.47A>C (p.Glu16Ala) n.540+5399A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359852A>G | CA391994028 | CAPN3 | c.47A>G (p.Glu16Gly) n.540+5399A>G | |
| 15 | g.42359852A>T | CA391994031 | CAPN3 | c.47A>T (p.Glu16Val) n.540+5399A>T | |
| 15 | g.42359853G>A | CA489998872 | CAPN3 | c.48G>A (p.Glu16=) n.540+5400G>A | |
| 15 | g.42359853G>C | CA391994033 | CAPN3 | c.48G>C (p.Glu16Asp) n.540+5400G>C | dbSNP |
| 15 | g.42359853G= | CA2172697324 | CAPN3 | c.48G= (p.Glu16=) n.540+5400G= | |
| 15 | g.42359853G>T | CA391994036 | CAPN3 | c.48G>T (p.Glu16Asp) n.540+5400G>T | |
| 15 | g.42359854C>A | CA391994039 | CAPN3 | c.49C>A (p.Pro17Thr) n.540+5401C>A | |
| 15 | g.42359854C>G | CA391994041 | CAPN3 | c.49C>G (p.Pro17Ala) n.540+5401C>G | |
| 15 | g.42359854C>T | CA391994043 | CAPN3 | c.49C>T (p.Pro17Ser) n.540+5401C>T | ClinVar |
| 15 | g.42359855C>A | CA7510840 | CAPN3 | c.50C>A (p.Pro17His) n.540+5402C>A | dbSNP ExAC gnomAD v2 |
| 15 | g.42359855C= | CA2172697325 | CAPN3 | c.50C= (p.Pro17=) n.540+5402C= | |
| 15 | g.42359855C>G | CA391994048 | CAPN3 | c.50C>G (p.Pro17Arg) n.540+5402C>G | |
| 15 | g.42359855C>T | CA391994049 | CAPN3 | c.50C>T (p.Pro17Leu) n.540+5402C>T | gnomAD v4 |
| 15 | g.42359856C>A | CA489998873 | CAPN3 | c.51C>A (p.Pro17=) n.540+5403C>A | |
| 15 | g.42359856C= | CA2172697326 | CAPN3 | c.51C= (p.Pro17=) n.540+5403C= | |
| 15 | g.42359856C>G | CA489998874 | CAPN3 | c.51C>G (p.Pro17=) n.540+5403C>G | |
| 15 | g.42359856C>T | CA489998875 | CAPN3 | c.51C>T (p.Pro17=) n.540+5403C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359857C>A | CA489998876 | CAPN3 | c.52C>A (p.Arg18=) n.540+5404C>A | |
| 15 | g.42359857C= | CA2172697327 | CAPN3 | c.52C= (p.Arg18=) n.540+5404C= | |
| 15 | g.42359857C>G | CA391994051 | CAPN3 | c.52C>G (p.Arg18Gly) n.540+5404C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42359857C>T | CA7510841 | CAPN3 | c.52C>T (p.Arg18Trp) n.540+5404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359858G>A | CA391994052 | CAPN3 | c.53G>A (p.Arg18Gln) n.540+5405G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359858G>C | CA391994053 | CAPN3 | c.53G>C (p.Arg18Pro) n.540+5405G>C | gnomAD v4 |
| 15 | g.42359858G= | CA2172697328 | CAPN3 | c.53G= (p.Arg18=) n.540+5405G= | |
| 15 | g.42359858G>T | CA391994055 | CAPN3 | c.53G>T (p.Arg18Leu) n.540+5405G>T | gnomAD v4 |
| 15 | g.42359859G>A | CA489998877 | CAPN3 | c.54G>A (p.Arg18=) n.540+5406G>A | |
| 15 | g.42359859G>C | CA489998878 | CAPN3 | c.54G>C (p.Arg18=) n.540+5406G>C | ClinVar |
| 15 | g.42359859G>T | CA489998879 | CAPN3 | c.54G>T (p.Arg18=) n.540+5406G>T | |
| 15 | g.42359860T>A | CA391994057 | CAPN3 | c.55T>A (p.Ser19Thr) n.540+5407T>A | |
| 15 | g.42359860T>C | CA391994059 | CAPN3 | c.55T>C (p.Ser19Pro) n.540+5407T>C | |
| 15 | g.42359860T>G | CA391994062 | CAPN3 | c.55T>G (p.Ser19Ala) n.540+5407T>G | dbSNP |
| 15 | g.42359860T= | CA2172697330 | CAPN3 | c.55T= (p.Ser19=) n.540+5407T= | |
| 15 | g.42359860_42359861del | CA912980489 | CAPN3 | c.55_56del (p.Ser19ProfsTer14) n.540+5407_540+5408del | |
| 15 | g.42359860_42359861delinsTC | CA2172697329 | CAPN3 | c.55_56delinsTC (p.Ser19=) n.540+5407_540+5408delinsTC | |
| 15 | g.42359861C>A | CA391994065 | CAPN3 | c.56C>A (p.Ser19Tyr) n.540+5408C>A | |
| 15 | g.42359861C= | CA2172697331 | CAPN3 | c.56C= (p.Ser19=) n.540+5408C= | |
| 15 | g.42359861C>G | CA391994068 | CAPN3 | c.56C>G (p.Ser19Cys) n.540+5408C>G | |
| 15 | g.42359861C>T | CA391994070 | CAPN3 | c.56C>T (p.Ser19Phe) n.540+5408C>T | dbSNP gnomAD v4 |
| 15 | g.42359864del | CA658823857 | CAPN3 | c.59del (p.Pro20GlnfsTer?) n.540+5411del | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359862C>A | CA489998880 | CAPN3 | c.57C>A (p.Ser19=) n.540+5409C>A | |
| 15 | g.42359862C= | CA2172697332 | CAPN3 | c.57C= (p.Ser19=) n.540+5409C= | |
| 15 | g.42359862C>G | CA489998881 | CAPN3 | c.57C>G (p.Ser19=) n.540+5409C>G | |
| 15 | g.42359862C>T | CA489998882 | CAPN3 | c.57C>T (p.Ser19=) n.540+5409C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359863C>A | CA391994073 | CAPN3 | c.58C>A (p.Pro20Thr) n.540+5410C>A | |
| 15 | g.42359863C>G | CA391994074 | CAPN3 | c.58C>G (p.Pro20Ala) n.540+5410C>G | |
| 15 | g.42359863C>T | CA391994077 | CAPN3 | c.58C>T (p.Pro20Ser) n.540+5410C>T | |
| 15 | g.42359864C>A | CA391994081 | CAPN3 | c.59C>A (p.Pro20Gln) n.540+5411C>A | |
| 15 | g.42359864C= | CA2172697333 | CAPN3 | c.59C= (p.Pro20=) n.540+5411C= | |
| 15 | g.42359864C>G | CA391994083 | CAPN3 | c.59C>G (p.Pro20Arg) n.540+5411C>G | |
| 15 | g.42359864C>T | CA7510842 | CAPN3 | c.59C>T (p.Pro20Leu) n.540+5411C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359864_42359865delinsCA | CA2172697334 | CAPN3 | c.59_60delinsCA (p.Pro20=) n.540+5411_540+5412delinsCA | |
| 15 | g.42359865del | CA618001479 | CAPN3 | c.60del (p.Pro22GlnfsTer?) n.540+5412del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359865A= | CA2172697335 | CAPN3 | c.60A= (p.Pro20=) n.540+5412A= | |
| 15 | g.42359865A>C | CA7510843 | CAPN3 | c.60A>C (p.Pro20=) n.540+5412A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359865A>G | CA489998883 | CAPN3 | c.60A>G (p.Pro20=) n.540+5412A>G | |
| 15 | g.42359865A>T | CA489998884 | CAPN3 | c.60A>T (p.Pro20=) n.540+5412A>T | |
| 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 |
| 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 | |
| 15 | g.42359885C>A | CA391994178 | CAPN3 | c.80C>A (p.Ala27Asp) n.540+5432C>A | |
| 15 | g.42359885C>G | CA391994181 | CAPN3 | c.80C>G (p.Ala27Gly) n.540+5432C>G | |
| 15 | g.42359885C>T | CA391994183 | CAPN3 | c.80C>T (p.Ala27Val) n.540+5432C>T | |
| 15 | g.42359887dup | CA2695219974 | CAPN3 | c.82dup (p.Gln28ProfsTer6) n.540+5434dup | |
| 15 | g.42359886C>A | CA489998899 | CAPN3 | c.81C>A (p.Ala27=) n.540+5433C>A | |
| 15 | g.42359886C= | CA2172697345 | CAPN3 | c.81C= (p.Ala27=) n.540+5433C= | |
| 15 | g.42359886C>G | CA489998900 | CAPN3 | c.81C>G (p.Ala27=) n.540+5433C>G | |
| 15 | g.42359886C>T | CA489998901 | CAPN3 | c.81C>T (p.Ala27=) n.540+5433C>T | dbSNP |
| 15 | g.42359887C>A | CA391994192 | CAPN3 | c.82C>A (p.Gln28Lys) n.540+5434C>A | |
| 15 | g.42359887C>G | CA391994189 | CAPN3 | c.82C>G (p.Gln28Glu) n.540+5434C>G | |
| 15 | g.42359887C>T | CA391994187 | CAPN3 | c.82C>T (p.Gln28Ter) n.540+5434C>T | |
| 15 | g.42359888A>C | CA391994195 | CAPN3 | c.83A>C (p.Gln28Pro) n.540+5435A>C | gnomAD v4 |
| 15 | g.42359888A>G | CA391994197 | CAPN3 | c.83A>G (p.Gln28Arg) n.540+5435A>G | gnomAD v4 |
| 15 | g.42359888A>T | CA391994198 | CAPN3 | c.83A>T (p.Gln28Leu) n.540+5435A>T | |
| 15 | g.42359889G>A | CA489998902 | CAPN3 | c.84G>A (p.Gln28=) n.540+5436G>A | gnomAD v4 |
| 15 | g.42359889G>C | CA7510849 | CAPN3 | c.84G>C (p.Gln28His) n.540+5436G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359889G= | CA2172697346 | CAPN3 | c.84G= (p.Gln28=) n.540+5436G= | |
| 15 | g.42359889G>T | CA391994202 | CAPN3 | c.84G>T (p.Gln28His) n.540+5436G>T | |
| 15 | g.42359890A>C | CA391994205 | CAPN3 | c.85A>C (p.Ser29Arg) n.540+5437A>C | |
| 15 | g.42359890A>G | CA391994207 | CAPN3 | c.85A>G (p.Ser29Gly) n.540+5437A>G | |
| 15 | g.42359890A>T | CA391994210 | CAPN3 | c.85A>T (p.Ser29Cys) n.540+5437A>T | |
| 15 | g.42359891G>A | CA7510850 | CAPN3 | c.86G>A (p.Ser29Asn) n.540+5438G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359891G>C | CA391994213 | CAPN3 | c.86G>C (p.Ser29Thr) n.540+5438G>C | |
| 15 | g.42359891G= | CA2172697347 | CAPN3 | c.86G= (p.Ser29=) n.540+5438G= | |
| 15 | g.42359891G>T | CA391994215 | CAPN3 | c.86G>T (p.Ser29Ile) n.540+5438G>T | |
| 15 | g.42359892C>A | CA391994218 | CAPN3 | c.87C>A (p.Ser29Arg) n.540+5439C>A | |
| 15 | g.42359892C= | CA2172697348 | CAPN3 | c.87C= (p.Ser29=) n.540+5439C= | |
| 15 | g.42359892C>G | CA391994221 | CAPN3 | c.87C>G (p.Ser29Arg) n.540+5439C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359892C>T | CA489998906 | CAPN3 | c.87C>T (p.Ser29=) n.540+5439C>T | |
| 15 | g.42359893A>C | CA391994225 | CAPN3 | c.88A>C (p.Lys30Gln) n.540+5440A>C | |
| 15 | g.42359893A>G | CA391994229 | CAPN3 | c.88A>G (p.Lys30Glu) n.540+5440A>G | |
| 15 | g.42359893A>T | CA391994227 | CAPN3 | c.88A>T (p.Lys30Ter) n.540+5440A>T | |
| 15 | g.42359894A= | CA2172697349 | CAPN3 | c.89A= (p.Lys30=) n.540+5441A= | |
| 15 | g.42359894A>C | CA391994233 | CAPN3 | c.89A>C (p.Lys30Thr) n.540+5441A>C | |
| 15 | g.42359894A>G | CA391994234 | CAPN3 | c.89A>G (p.Lys30Arg) n.540+5441A>G | dbSNP gnomAD v4 |
| 15 | g.42359894A>T | CA391994237 | CAPN3 | c.89A>T (p.Lys30Met) n.540+5441A>T | |
| 15 | g.42359895G>A | CA489998910 | CAPN3 | c.90G>A (p.Lys30=) n.540+5442G>A | |
| 15 | g.42359895G>C | CA391994240 | CAPN3 | c.90G>C (p.Lys30Asn) n.540+5442G>C | |
| 15 | g.42359895G>T | CA391994242 | CAPN3 | c.90G>T (p.Lys30Asn) n.540+5442G>T | |
| 15 | g.42359896G>A | CA391994246 | CAPN3 | c.91G>A (p.Ala31Thr) n.540+5443G>A | |
| 15 | g.42359896G>C | CA391994248 | CAPN3 | c.91G>C (p.Ala31Pro) n.540+5443G>C | |
| 15 | g.42359896G>T | CA391994250 | CAPN3 | c.91G>T (p.Ala31Ser) n.540+5443G>T | |
| 15 | g.42359897C>A | CA391994253 | CAPN3 | c.92C>A (p.Ala31Asp) n.540+5444C>A | |
| 15 | g.42359897C>G | CA391994254 | CAPN3 | c.92C>G (p.Ala31Gly) n.540+5444C>G | |
| 15 | g.42359897C>T | CA391994255 | CAPN3 | c.92C>T (p.Ala31Val) n.540+5444C>T | dbSNP |
| 15 | g.42359898C>A | CA489998912 | CAPN3 | c.93C>A (p.Ala31=) n.540+5445C>A | |
| 15 | g.42359898C>G | CA489998913 | CAPN3 | c.93C>G (p.Ala31=) n.540+5445C>G | |
| 15 | g.42359898C>T | CA489998914 | CAPN3 | c.93C>T (p.Ala31=) n.540+5445C>T | |
| 15 | g.42359899A>C | CA391994258 | CAPN3 | c.94A>C (p.Thr32Pro) n.540+5446A>C | |
| 15 | g.42359899A>G | CA391994257 | CAPN3 | c.94A>G (p.Thr32Ala) n.540+5446A>G | gnomAD v4 |
| 15 | g.42359899A>T | CA391994256 | CAPN3 | c.94A>T (p.Thr32Ser) n.540+5446A>T | |
| 15 | g.42359900C>A | CA391994260 | CAPN3 | c.95C>A (p.Thr32Asn) n.540+5447C>A | |
| 15 | g.42359900C>G | CA391994259 | CAPN3 | c.95C>G (p.Thr32Ser) n.540+5447C>G | |
| 15 | g.42359900C>T | CA391994261 | CAPN3 | c.95C>T (p.Thr32Ile) n.540+5447C>T | |
| 15 | g.42359901T>A | CA489998918 | CAPN3 | c.96T>A (p.Thr32=) n.540+5448T>A | |
| 15 | g.42359901T>C | CA145728 | CAPN3 | c.96T>C (p.Thr32=) n.540+5448T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359901T>G | CA489998919 | CAPN3 | c.96T>G (p.Thr32=) n.540+5448T>G | |
| 15 | g.42359901T= | CA2172697350 | CAPN3 | c.96T= (p.Thr32=) n.540+5448T= | |
| 15 | g.42359901_42359902delinsCA | CA658798307 | CAPN3 | c.96_97delinsCA (p.Glu33Lys) n.540+5448_540+5449delinsCA | ClinVar |
| 15 | g.42359901_42359902delinsTG | CA2172697351 | CAPN3 | c.96_97delinsTG (p.Thr32=) n.540+5448_540+5449delinsTG | |
| 15 | g.42359902del | CA618001480 | CAPN3 | c.97del (p.Glu33ArgfsTer24) n.540+5449del | dbSNP gnomAD v2 |
| 15 | g.42359902G>A | CA7510851 | CAPN3 | c.97G>A (p.Glu33Lys) n.540+5449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359902G>C | CA391994262 | CAPN3 | c.97G>C (p.Glu33Gln) n.540+5449G>C | |
| 15 | g.42359902G= | CA2172697352 | CAPN3 | c.97G= (p.Glu33=) n.540+5449G= | |
| 15 | g.42359902G>T | CA391994263 | CAPN3 | c.97G>T (p.Glu33Ter) n.540+5449G>T | |
| 15 | g.42359903A>C | CA391994264 | CAPN3 | c.98A>C (p.Glu33Ala) n.540+5450A>C | |
| 15 | g.42359903A>G | CA391994265 | CAPN3 | c.98A>G (p.Glu33Gly) n.540+5450A>G | |
| 15 | g.42359903A>T | CA391994266 | CAPN3 | c.98A>T (p.Glu33Val) n.540+5450A>T | |
| 15 | g.42359903_42359904delinsAG | CA2172697353 | CAPN3 | c.98_99delinsAG (p.Glu33=) n.540+5450_540+5451delinsAG | |
| 15 | g.42359904G>A | CA489998921 | CAPN3 | c.99G>A (p.Glu33=) n.540+5451G>A | |
| 15 | g.42359904G>C | CA391994267 | CAPN3 | c.99G>C (p.Glu33Asp) n.540+5451G>C | |
| 15 | g.42359904G>T | CA391994268 | CAPN3 | c.99G>T (p.Glu33Asp) n.540+5451G>T | |
| 15 | g.42359905del | CA916083415 | CAPN3 | c.100del (p.Ala34LeufsTer23) n.540+5452del | ClinVar dbSNP |
| 15 | g.42359905G>A | CA391994269 | CAPN3 | c.100G>A (p.Ala34Thr) n.540+5452G>A | ClinVar dbSNP |
| 15 | g.42359905G>C | CA7510852 | CAPN3 | c.100G>C (p.Ala34Pro) n.540+5452G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359905G= | CA2172697354 | CAPN3 | c.100G= (p.Ala34=) n.540+5452G= | |
| 15 | g.42359905G>T | CA7510853 | CAPN3 | c.100G>T (p.Ala34Ser) n.540+5452G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359906C>A | CA391994273 | CAPN3 | c.101C>A (p.Ala34Asp) n.540+5453C>A | |
| 15 | g.42359906C= | CA2172697355 | CAPN3 | c.101C= (p.Ala34=) n.540+5453C= | |
| 15 | g.42359906C>G | CA391994271 | CAPN3 | c.101C>G (p.Ala34Gly) n.540+5453C>G | ClinVar dbSNP |
| 15 | g.42359906C>T | CA391994270 | CAPN3 | c.101C>T (p.Ala34Val) n.540+5453C>T | |
| 15 | g.42359907T>A | CA489998923 | CAPN3 | c.102T>A (p.Ala34=) n.540+5454T>A | |
| 15 | g.42359907T>C | CA489998924 | CAPN3 | c.102T>C (p.Ala34=) n.540+5454T>C | |
| 15 | g.42359907T>G | CA489998926 | CAPN3 | c.102T>G (p.Ala34=) n.540+5454T>G | gnomAD v4 |
| 15 | g.42359907_42359908delinsTG | CA2172697356 | CAPN3 | c.102_103delinsTG (p.Ala34=) n.540+5454_540+5455delinsTG | |
| 15 | g.42359908G>A | CA391994277 | CAPN3 | c.103G>A (p.Gly35Arg) n.540+5455G>A | gnomAD v4 |
| 15 | g.42359908G>C | CA7510855 | CAPN3 | c.103G>C (p.Gly35Arg) n.540+5455G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.42359908G= | CA2172697357 | CAPN3 | c.103G= (p.Gly35=) n.540+5455G= | |
| 15 | g.42359908G>T | CA391994281 | CAPN3 | c.103G>T (p.Gly35Trp) n.540+5455G>T | |
| 15 | g.42359912del | CA7510854 | CAPN3 | c.107del (p.Gly36ValfsTer21) n.540+5459del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359909G>A | CA391994285 | CAPN3 | c.104G>A (p.Gly35Glu) n.540+5456G>A | |
| 15 | g.42359909G>C | CA391994287 | CAPN3 | c.104G>C (p.Gly35Ala) n.540+5456G>C | ClinVar dbSNP |
| 15 | g.42359909G>T | CA391994290 | CAPN3 | c.104G>T (p.Gly35Val) n.540+5456G>T | |
| 15 | g.42359910G>A | CA489998930 | CAPN3 | c.105G>A (p.Gly35=) n.540+5457G>A | ClinVar dbSNP |
| 15 | g.42359910G>C | CA489998931 | CAPN3 | c.105G>C (p.Gly35=) n.540+5457G>C | |
| 15 | g.42359910G= | CA2172697358 | CAPN3 | c.105G= (p.Gly35=) n.540+5457G= | |
| 15 | g.42359910G>T | CA489998928 | CAPN3 | c.105G>T (p.Gly35=) n.540+5457G>T | |
| 15 | g.42359911G>A | CA391994293 | CAPN3 | c.106G>A (p.Gly36Ser) n.540+5458G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42359911G>C | CA391994295 | CAPN3 | c.106G>C (p.Gly36Arg) n.540+5458G>C | |
| 15 | g.42359911G= | CA2172697359 | CAPN3 | c.106G= (p.Gly36=) n.540+5458G= | |
| 15 | g.42359911G>T | CA391994297 | CAPN3 | c.106G>T (p.Gly36Cys) n.540+5458G>T | |
| 15 | g.42359912G>A | CA391994300 | CAPN3 | c.107G>A (p.Gly36Asp) n.540+5459G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359912G>C | CA7510856 | CAPN3 | c.107G>C (p.Gly36Ala) n.540+5459G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359912G= | CA2172697360 | CAPN3 | c.107G= (p.Gly36=) n.540+5459G= | |
| 15 | g.42359912G>T | CA391994304 | CAPN3 | c.107G>T (p.Gly36Val) n.540+5459G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359913T>A | CA7510857 | CAPN3 | c.108T>A (p.Gly36=) n.540+5460T>A | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.42359913T>C | CA489998936 | CAPN3 | c.108T>C (p.Gly36=) n.540+5460T>C | |
| 15 | g.42359913T>G | CA489998935 | CAPN3 | c.108T>G (p.Gly36=) n.540+5460T>G | dbSNP |
| 15 | g.42359913T= | CA2172697361 | CAPN3 | c.108T= (p.Gly36=) n.540+5460T= | |
| 15 | g.42359914G>A | CA391994313 | CAPN3 | c.109G>A (p.Gly37Arg) n.540+5461G>A | dbSNP gnomAD v4 |
| 15 | g.42359914G>C | CA391994308 | CAPN3 | c.109G>C (p.Gly37Arg) n.540+5461G>C | |
| 15 | g.42359914G= | CA2172697362 | CAPN3 | c.109G= (p.Gly37=) n.540+5461G= | |
| 15 | g.42359914G>T | CA391994311 | CAPN3 | c.109G>T (p.Gly37Ter) n.540+5461G>T | |
| 15 | g.42359915G>A | CA391994316 | CAPN3 | c.110G>A (p.Gly37Glu) n.540+5462G>A | gnomAD v4 |
| 15 | g.42359915G>C | CA391994317 | CAPN3 | c.110G>C (p.Gly37Ala) n.540+5462G>C | |
| 15 | g.42359915G>T | CA391994318 | CAPN3 | c.110G>T (p.Gly37Val) n.540+5462G>T | |
| 15 | g.42359916A= | CA2172697363 | CAPN3 | c.111A= (p.Gly37=) n.540+5463A= | |
| 15 | g.42359916A>C | CA489998941 | CAPN3 | c.111A>C (p.Gly37=) n.540+5463A>C | |
| 15 | g.42359916A>G | CA7510858 | CAPN3 | c.111A>G (p.Gly37=) n.540+5463A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359916A>T | CA489998940 | CAPN3 | c.111A>T (p.Gly37=) n.540+5463A>T | |
| 15 | g.42359917A>C | CA391994322 | CAPN3 | c.112A>C (p.Asn38His) n.540+5464A>C | |
| 15 | g.42359917A>G | CA391994324 | CAPN3 | c.112A>G (p.Asn38Asp) n.540+5464A>G | |
| 15 | g.42359917A>T | CA391994326 | CAPN3 | c.112A>T (p.Asn38Tyr) n.540+5464A>T | |
| 15 | g.42359918A>C | CA391994329 | CAPN3 | c.113A>C (p.Asn38Thr) n.540+5465A>C | |
| 15 | g.42359918A>G | CA391994331 | CAPN3 | c.113A>G (p.Asn38Ser) n.540+5465A>G | |
| 15 | g.42359918A>T | CA391994333 | CAPN3 | c.113A>T (p.Asn38Ile) n.540+5465A>T | |
| 15 | g.42359919C>A | CA391994336 | CAPN3 | c.114C>A (p.Asn38Lys) n.540+5466C>A | gnomAD v4 |
| 15 | g.42359919C= | CA2172697364 | CAPN3 | c.114C= (p.Asn38=) n.540+5466C= | |
| 15 | g.42359919C>G | CA391994338 | CAPN3 | c.114C>G (p.Asn38Lys) n.540+5466C>G | |
| 15 | g.42359919C>T | CA7510859 | CAPN3 | c.114C>T (p.Asn38=) n.540+5466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359920C>A | CA391994341 | CAPN3 | c.115C>A (p.Pro39Thr) n.540+5467C>A | |
| 15 | g.42359920C= | CA2172697365 | CAPN3 | c.115C= (p.Pro39=) n.540+5467C= | |
| 15 | g.42359920C>G | CA391994343 | CAPN3 | c.115C>G (p.Pro39Ala) n.540+5467C>G | |
| 15 | g.42359920C>T | CA391994345 | CAPN3 | c.115C>T (p.Pro39Ser) n.540+5467C>T | dbSNP |
| 15 | g.42359921C>A | CA391994348 | CAPN3 | c.116C>A (p.Pro39Gln) n.540+5468C>A | |
| 15 | g.42359921C= | CA2172697366 | CAPN3 | c.116C= (p.Pro39=) n.540+5468C= | |
| 15 | g.42359921C>G | CA391994350 | CAPN3 | c.116C>G (p.Pro39Arg) n.540+5468C>G | |
| 15 | g.42359921C>T | CA269853802 | CAPN3 | c.116C>T (p.Pro39Leu) n.540+5468C>T | dbSNP gnomAD v4 |
| 15 | g.42359922A>C | CA489998945 | CAPN3 | c.117A>C (p.Pro39=) n.540+5469A>C | |
| 15 | g.42359922A>G | CA489998946 | CAPN3 | c.117A>G (p.Pro39=) n.540+5469A>G | |
| 15 | g.42359922A>T | CA489998947 | CAPN3 | c.117A>T (p.Pro39=) n.540+5469A>T | |
| 15 | g.42359923A>C | CA391994354 | CAPN3 | c.118A>C (p.Ser40Arg) n.540+5470A>C | |
| 15 | g.42359923A>G | CA391994359 | CAPN3 | c.118A>G (p.Ser40Gly) n.540+5470A>G | |
| 15 | g.42359923A>T | CA391994357 | CAPN3 | c.118A>T (p.Ser40Cys) n.540+5470A>T | |
| 15 | g.42359924G>A | CA391994362 | CAPN3 | c.119G>A (p.Ser40Asn) n.540+5471G>A | dbSNP |
| 15 | g.42359924G>C | CA391994364 | CAPN3 | c.119G>C (p.Ser40Thr) n.540+5471G>C | |
| 15 | g.42359924G= | CA2172697367 | CAPN3 | c.119G= (p.Ser40=) n.540+5471G= | |
| 15 | g.42359924G>T | CA391994367 | CAPN3 | c.119G>T (p.Ser40Ile) n.540+5471G>T | |
| 15 | g.42359925T>A | CA391994370 | CAPN3 | c.120T>A (p.Ser40Arg) n.540+5472T>A | gnomAD v4 |
| 15 | g.42359925T>C | CA489998949 | CAPN3 | c.120T>C (p.Ser40=) n.540+5472T>C | ClinVar dbSNP |
| 15 | g.42359925T>G | CA391994372 | CAPN3 | c.120T>G (p.Ser40Arg) n.540+5472T>G | |
| 15 | g.42359926G>A | CA391994378 | CAPN3 | c.121G>A (p.Gly41Ser) n.540+5473G>A | |
| 15 | g.42359926G>C | CA391994380 | CAPN3 | c.121G>C (p.Gly41Arg) n.540+5473G>C | |
| 15 | g.42359926G>T | CA391994375 | CAPN3 | c.121G>T (p.Gly41Cys) n.540+5473G>T | |
| 15 | g.42359927G>A | CA391994383 | CAPN3 | c.122G>A (p.Gly41Asp) n.540+5474G>A | gnomAD v4 |
| 15 | g.42359927G>C | CA391994387 | CAPN3 | c.122G>C (p.Gly41Ala) n.540+5474G>C | |
| 15 | g.42359927G>T | CA391994385 | CAPN3 | c.122G>T (p.Gly41Val) n.540+5474G>T | dbSNP |
| 15 | g.42359928C>A | CA489998952 | CAPN3 | c.123C>A (p.Gly41=) n.540+5475C>A | |
| 15 | g.42359928C>G | CA489998953 | CAPN3 | c.123C>G (p.Gly41=) n.540+5475C>G | |
| 15 | g.42359928C>T | CA489998954 | CAPN3 | c.123C>T (p.Gly41=) n.540+5475C>T | |
| 15 | g.42359929A>C | CA391994390 | CAPN3 | c.124A>C (p.Ile42Leu) n.540+5476A>C | |
| 15 | g.42359929A>G | CA391994392 | CAPN3 | c.124A>G (p.Ile42Val) n.540+5476A>G | |
| 15 | g.42359929A>T | CA391994395 | CAPN3 | c.124A>T (p.Ile42Phe) n.540+5476A>T | |
| 15 | g.42359930T>A | CA391994398 | CAPN3 | c.125T>A (p.Ile42Asn) n.540+5477T>A | |
| 15 | g.42359930T>C | CA391994400 | CAPN3 | c.125T>C (p.Ile42Thr) n.540+5477T>C | |
| 15 | g.42359930T>G | CA391994402 | CAPN3 | c.125T>G (p.Ile42Ser) n.540+5477T>G | |
| 15 | g.42359931C>A | CA489998958 | CAPN3 | c.126C>A (p.Ile42=) n.540+5478C>A | |
| 15 | g.42359931C= | CA2172697368 | CAPN3 | c.126C= (p.Ile42=) n.540+5478C= | |
| 15 | g.42359931C>G | CA391994405 | CAPN3 | c.126C>G (p.Ile42Met) n.540+5478C>G | |
| 15 | g.42359931C>T | CA489998957 | CAPN3 | c.126C>T (p.Ile42=) n.540+5478C>T | ClinVar dbSNP gnomAD v2 |
| 15 | g.42359932T>A | CA391994408 | CAPN3 | c.127T>A (p.Tyr43Asn) n.540+5479T>A | |
| 15 | g.42359932T>C | CA391994411 | CAPN3 | c.127T>C (p.Tyr43His) n.540+5479T>C | |
| 15 | g.42359932T>G | CA391994413 | CAPN3 | c.127T>G (p.Tyr43Asp) n.540+5479T>G | |
| 15 | g.42359932dup | CA2695219975 | CAPN3 | c.127dup (p.Tyr43LeufsTer?) n.540+5479dup | |
| 15 | g.42359933A= | CA2172697369 | CAPN3 | c.128A= (p.Tyr43=) n.540+5480A= | |
| 15 | g.42359933A>C | CA391994416 | CAPN3 | c.128A>C (p.Tyr43Ser) n.540+5480A>C | dbSNP |
| 15 | g.42359933A>G | CA391994418 | CAPN3 | c.128A>G (p.Tyr43Cys) n.540+5480A>G | gnomAD v4 |
| 15 | g.42359933A>T | CA391994421 | CAPN3 | c.128A>T (p.Tyr43Phe) n.540+5480A>T | |
| 15 | g.42359934T>A | CA391994426 | CAPN3 | c.129T>A (p.Tyr43Ter) n.540+5481T>A | |
| 15 | g.42359934T>C | CA489998960 | CAPN3 | c.129T>C (p.Tyr43=) n.540+5481T>C | |
| 15 | g.42359934T>G | CA391994424 | CAPN3 | c.129T>G (p.Tyr43Ter) n.540+5481T>G | |
| 15 | g.42359935T>A | CA391994429 | CAPN3 | c.130T>A (p.Ser44Thr) n.540+5482T>A | |
| 15 | g.42359935T>C | CA391994431 | CAPN3 | c.130T>C (p.Ser44Pro) n.540+5482T>C | |
| 15 | g.42359935T>G | CA391994433 | CAPN3 | c.130T>G (p.Ser44Ala) n.540+5482T>G | |
| 15 | g.42359941_42359950del | CA2739278830 | CAPN3 | c.136_145del (p.Ile46AlafsTer8) n.540+5488_540+5497del | ClinVar |
| 15 | g.42359936C>A | CA391994436 | CAPN3 | c.131C>A (p.Ser44Ter) n.540+5483C>A | |
| 15 | g.42359936C= | CA2172697370 | CAPN3 | c.131C= (p.Ser44=) n.540+5483C= | |
| 15 | g.42359936C>G | CA391994438 | CAPN3 | c.131C>G (p.Ser44Ter) n.540+5483C>G | |
| 15 | g.42359936C>T | CA269853810 | CAPN3 | c.131C>T (p.Ser44Leu) n.540+5483C>T | dbSNP |
| 15 | g.42359937A= | CA2172697371 | CAPN3 | c.132A= (p.Ser44=) n.540+5484A= | |
| 15 | g.42359937A>C | CA489998964 | CAPN3 | c.132A>C (p.Ser44=) n.540+5484A>C | dbSNP |
| 15 | g.42359937A>G | CA269853813 | CAPN3 | c.132A>G (p.Ser44=) n.540+5484A>G | dbSNP |
| 15 | g.42359937A>T | CA489998966 | CAPN3 | c.132A>T (p.Ser44=) n.540+5484A>T | |
| 15 | g.42359938G>A | CA347575 | CAPN3 | c.133G>A (p.Ala45Thr) n.540+5485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359938G>C | CA391994442 | CAPN3 | c.133G>C (p.Ala45Pro) n.540+5485G>C | |
| 15 | g.42359938G= | CA2172697372 | CAPN3 | c.133G= (p.Ala45=) n.540+5485G= | |
| 15 | g.42359938G>T | CA391994444 | CAPN3 | c.133G>T (p.Ala45Ser) n.540+5485G>T | |
| 15 | g.42359939C>A | CA391994447 | CAPN3 | c.134C>A (p.Ala45Asp) n.540+5486C>A | |
| 15 | g.42359939C>G | CA391994449 | CAPN3 | c.134C>G (p.Ala45Gly) n.540+5486C>G | |
| 15 | g.42359939C>T | CA391994452 | CAPN3 | c.134C>T (p.Ala45Val) n.540+5486C>T | ClinVar gnomAD v4 |
| 15 | g.42359939_42359942delinsCCAT | CA2172697373 | CAPN3 | c.134_137delinsCCAT (p.Ala45=) n.540+5486_540+5489delinsCCAT | |
| 15 | g.42359940C>A | CA489998967 | CAPN3 | c.135C>A (p.Ala45=) n.540+5487C>A | |
| 15 | g.42359940C>G | CA489998968 | CAPN3 | c.135C>G (p.Ala45=) n.540+5487C>G | |
| 15 | g.42359940C>T | CA489998970 | CAPN3 | c.135C>T (p.Ala45=) n.540+5487C>T | |
| 15 | g.42359945_42359947del | CA7510860 | CAPN3 | c.140_142del (p.Ile47del) n.540+5492_540+5494del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359941A= | CA2172697374 | CAPN3 | c.136A= (p.Ile46=) n.540+5488A= | |
| 15 | g.42359941A>C | CA391994457 | CAPN3 | c.136A>C (p.Ile46Leu) n.540+5488A>C | |
| 15 | g.42359941A>G | CA269853824 | CAPN3 | c.136A>G (p.Ile46Val) n.540+5488A>G | dbSNP gnomAD v4 |
| 15 | g.42359941A>T | CA391994459 | CAPN3 | c.136A>T (p.Ile46Phe) n.540+5488A>T | |
| 15 | g.42359942T>A | CA391994462 | CAPN3 | c.137T>A (p.Ile46Asn) n.540+5489T>A | |
| 15 | g.42359942T>C | CA7510861 | CAPN3 | c.137T>C (p.Ile46Thr) n.540+5489T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359942T>G | CA391994465 | CAPN3 | c.137T>G (p.Ile46Ser) n.540+5489T>G | |
| 15 | g.42359942T= | CA2172697375 | CAPN3 | c.137T= (p.Ile46=) n.540+5489T= |