| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= | |
| 15 | g.42359943C>A | CA489998972 | CAPN3 | c.138C>A (p.Ile46=) n.540+5490C>A | |
| 15 | g.42359943C>G | CA391994468 | CAPN3 | c.138C>G (p.Ile46Met) n.540+5490C>G | |
| 15 | g.42359943C>T | CA489998973 | CAPN3 | c.138C>T (p.Ile46=) n.540+5490C>T | gnomAD v4 |
| 15 | g.42359944A= | CA2172697376 | CAPN3 | c.139A= (p.Ile47=) n.540+5491A= | |
| 15 | g.42359944A>C | CA391994470 | CAPN3 | c.139A>C (p.Ile47Leu) n.540+5491A>C | |
| 15 | g.42359944A>G | CA391994472 | CAPN3 | c.139A>G (p.Ile47Val) n.540+5491A>G | dbSNP |
| 15 | g.42359944A>T | CA391994474 | CAPN3 | c.139A>T (p.Ile47Phe) n.540+5491A>T | |
| 15 | g.42359945T>A | CA391994476 | CAPN3 | c.140T>A (p.Ile47Asn) n.540+5492T>A | |
| 15 | g.42359945T>C | CA391994477 | CAPN3 | c.140T>C (p.Ile47Thr) n.540+5492T>C | dbSNP |
| 15 | g.42359945T>G | CA391994479 | CAPN3 | c.140T>G (p.Ile47Ser) n.540+5492T>G | |
| 15 | g.42359945T= | CA2172697377 | CAPN3 | c.140T= (p.Ile47=) n.540+5492T= | |
| 15 | g.42359946C>A | CA489998976 | CAPN3 | c.141C>A (p.Ile47=) n.540+5493C>A | |
| 15 | g.42359946C= | CA2172697378 | CAPN3 | c.141C= (p.Ile47=) n.540+5493C= | |
| 15 | g.42359946C>G | CA391994481 | CAPN3 | c.141C>G (p.Ile47Met) n.540+5493C>G | |
| 15 | g.42359946C>T | CA489999007 | CAPN3 | c.141C>T (p.Ile47=) n.540+5493C>T | ClinVar dbSNP |
| 15 | g.42359947A= | CA2172697379 | CAPN3 | c.142A= (p.Ser48=) n.540+5494A= | |
| 15 | g.42359947A>C | CA391994488 | CAPN3 | c.142A>C (p.Ser48Arg) n.540+5494A>C | |
| 15 | g.42359947A>G | CA391994484 | CAPN3 | c.142A>G (p.Ser48Gly) n.540+5494A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359947A>T | CA391994486 | CAPN3 | c.142A>T (p.Ser48Cys) n.540+5494A>T | |
| 15 | g.42359948G>A | CA7510862 | CAPN3 | c.143G>A (p.Ser48Asn) n.540+5495G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359948G>C | CA391994491 | CAPN3 | c.143G>C (p.Ser48Thr) n.540+5495G>C | |
| 15 | g.42359948G= | CA2172697380 | CAPN3 | c.143G= (p.Ser48=) n.540+5495G= | |
| 15 | g.42359948G>T | CA391994494 | CAPN3 | c.143G>T (p.Ser48Ile) n.540+5495G>T | |
| 15 | g.42359949C>A | CA391994497 | CAPN3 | c.144C>A (p.Ser48Arg) n.540+5496C>A | |
| 15 | g.42359949C>G | CA391994499 | CAPN3 | c.144C>G (p.Ser48Arg) n.540+5496C>G | |
| 15 | g.42359949C>T | CA489999011 | CAPN3 | c.144C>T (p.Ser48=) n.540+5496C>T | |
| 15 | g.42359950C>A | CA391994503 | CAPN3 | c.145C>A (p.Arg49Ser) n.540+5497C>A | |
| 15 | g.42359950C= | CA2172697381 | CAPN3 | c.145C= (p.Arg49=) n.540+5497C= | |
| 15 | g.42359950C>G | CA391994505 | CAPN3 | c.145C>G (p.Arg49Gly) n.540+5497C>G | |
| 15 | g.42359950C>T | CA346852 | CAPN3 | c.145C>T (p.Arg49Cys) n.540+5497C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.42359951G>A | CA347493 | CAPN3 | c.146G>A (p.Arg49His) n.540+5498G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42359951G>C | CA391994512 | CAPN3 | c.146G>C (p.Arg49Pro) n.540+5498G>C | |
| 15 | g.42359951G= | CA2172697382 | CAPN3 | c.146G= (p.Arg49=) n.540+5498G= | |
| 15 | g.42359951G>T | CA391994514 | CAPN3 | c.146G>T (p.Arg49Leu) n.540+5498G>T | |
| 15 | g.42359952C>A | CA489999022 | CAPN3 | c.147C>A (p.Arg49=) n.540+5499C>A | |
| 15 | g.42359952C>G | CA489999021 | CAPN3 | c.147C>G (p.Arg49=) n.540+5499C>G | |
| 15 | g.42359952C>T | CA489999019 | CAPN3 | c.147C>T (p.Arg49=) n.540+5499C>T | |
| 15 | g.42359953A>C | CA391994519 | CAPN3 | c.148A>C (p.Asn50His) n.540+5500A>C | |
| 15 | g.42359953A>G | CA391994522 | CAPN3 | c.148A>G (p.Asn50Asp) n.540+5500A>G | gnomAD v4 |
| 15 | g.42359953A>T | CA391994517 | CAPN3 | c.148A>T (p.Asn50Tyr) n.540+5500A>T | |
| 15 | g.42359954A= | CA2172697383 | CAPN3 | c.149A= (p.Asn50=) n.540+5501A= | |
| 15 | g.42359954A>C | CA391994530 | CAPN3 | c.149A>C (p.Asn50Thr) n.540+5501A>C | |
| 15 | g.42359954A>G | CA391994524 | CAPN3 | c.149A>G (p.Asn50Ser) n.540+5501A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42359954A>T | CA391994527 | CAPN3 | c.149A>T (p.Asn50Ile) n.540+5501A>T | |
| 15 | g.42359955T>A | CA391994532 | CAPN3 | c.150T>A (p.Asn50Lys) n.540+5502T>A | |
| 15 | g.42359955T>C | CA489999027 | CAPN3 | c.150T>C (p.Asn50=) n.540+5502T>C | dbSNP gnomAD v2 |
| 15 | g.42359955T>G | CA391994533 | CAPN3 | c.150T>G (p.Asn50Lys) n.540+5502T>G | |
| 15 | g.42359955T= | CA2172697384 | CAPN3 | c.150T= (p.Asn50=) n.540+5502T= | |
| 15 | g.42359956T>A | CA391994535 | CAPN3 | c.151T>A (p.Phe51Ile) n.540+5503T>A | |
| 15 | g.42359956T>C | CA391994537 | CAPN3 | c.151T>C (p.Phe51Leu) n.540+5503T>C | ClinVar gnomAD v4 |
| 15 | g.42359956T>G | CA391994539 | CAPN3 | c.151T>G (p.Phe51Val) n.540+5503T>G | |
| 15 | g.42359957T>A | CA391994542 | CAPN3 | c.152T>A (p.Phe51Tyr) n.540+5504T>A | |
| 15 | g.42359957T>C | CA391994543 | CAPN3 | c.152T>C (p.Phe51Ser) n.540+5504T>C | |
| 15 | g.42359957T>G | CA391994544 | CAPN3 | c.152T>G (p.Phe51Cys) n.540+5504T>G | |
| 15 | g.42359958T>A | CA391994548 | CAPN3 | c.153T>A (p.Phe51Leu) n.540+5505T>A | |
| 15 | g.42359958T>C | CA489999031 | CAPN3 | c.153T>C (p.Phe51=) n.540+5505T>C | |
| 15 | g.42359958T>G | CA391994550 | CAPN3 | c.153T>G (p.Phe51Leu) n.540+5505T>G | gnomAD v4 |
| 15 | g.42359959C>A | CA391994555 | CAPN3 | c.154C>A (p.Pro52Thr) n.540+5506C>A | |
| 15 | g.42359959C= | CA2172697385 | CAPN3 | c.154C= (p.Pro52=) n.540+5506C= | |
| 15 | g.42359959C>G | CA391994556 | CAPN3 | c.154C>G (p.Pro52Ala) n.540+5506C>G | |
| 15 | g.42359959C>T | CA391994553 | CAPN3 | c.154C>T (p.Pro52Ser) n.540+5506C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359960C>A | CA391994559 | CAPN3 | c.155C>A (p.Pro52His) n.540+5507C>A | |
| 15 | g.42359960C= | CA2172697386 | CAPN3 | c.155C= (p.Pro52=) n.540+5507C= | |
| 15 | g.42359960C>G | CA391994561 | CAPN3 | c.155C>G (p.Pro52Arg) n.540+5507C>G | dbSNP |
| 15 | g.42359960C>T | CA391994563 | CAPN3 | c.155C>T (p.Pro52Leu) n.540+5507C>T | gnomAD v4 |
| 15 | g.42359960_42359962del | CA2628027666 | CAPN3 | c.155_157del (p.Pro52_Ile53delinsLeu) n.540+5507_540+5509del | gnomAD v4 |
| 15 | g.42359961T>A | CA489999034 | CAPN3 | c.156T>A (p.Pro52=) n.540+5508T>A | |
| 15 | g.42359961T>C | CA489999035 | CAPN3 | c.156T>C (p.Pro52=) n.540+5508T>C | |
| 15 | g.42359961T>G | CA489999036 | CAPN3 | c.156T>G (p.Pro52=) n.540+5508T>G | |
| 15 | g.42359962A= | CA2172697387 | CAPN3 | c.157A= (p.Ile53=) n.540+5509A= | |
| 15 | g.42359962A>C | CA391994566 | CAPN3 | c.157A>C (p.Ile53Leu) n.540+5509A>C | |
| 15 | g.42359962A>G | CA7510863 | CAPN3 | c.157A>G (p.Ile53Val) n.540+5509A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359962A>T | CA391994570 | CAPN3 | c.157A>T (p.Ile53Phe) n.540+5509A>T | |
| 15 | g.42359963T>A | CA391994573 | CAPN3 | c.158T>A (p.Ile53Asn) n.540+5510T>A | |
| 15 | g.42359963T>C | CA391994577 | CAPN3 | c.158T>C (p.Ile53Thr) n.540+5510T>C | |
| 15 | g.42359963T>G | CA391994575 | CAPN3 | c.158T>G (p.Ile53Ser) n.540+5510T>G | |
| 15 | g.42359964T>A | CA489999040 | CAPN3 | c.159T>A (p.Ile53=) n.540+5511T>A | |
| 15 | g.42359964T>C | CA489999039 | CAPN3 | c.159T>C (p.Ile53=) n.540+5511T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359964T>G | CA391994579 | CAPN3 | c.159T>G (p.Ile53Met) n.540+5511T>G | |
| 15 | g.42359964T= | CA2172697389 | CAPN3 | c.159T= (p.Ile53=) n.540+5511T= | |
| 15 | g.42359964_42359967delinsTATC | CA2172697388 | CAPN3 | c.159_162delinsTATC (p.Ile53=) n.540+5511_540+5514delinsTATC | |
| 15 | g.42359965A= | CA2172697390 | CAPN3 | c.160A= (p.Ile54=) n.540+5512A= | |
| 15 | g.42359965A>C | CA391994583 | CAPN3 | c.160A>C (p.Ile54Leu) n.540+5512A>C | |
| 15 | g.42359965A>G | CA391994585 | CAPN3 | c.160A>G (p.Ile54Val) n.540+5512A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359965A>T | CA391994588 | CAPN3 | c.160A>T (p.Ile54Phe) n.540+5512A>T | |
| 15 | g.42359965_42359967del | CA618001481 | CAPN3 | c.160_162del (p.Ile54del) n.540+5512_540+5514del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359965_42359970del | CA2628027674 | CAPN3 | c.160_165del (p.Ile54_Gly55del) n.540+5512_540+5517del | gnomAD v4 |
| 15 | g.42359966del | CA2695219976 | CAPN3 | c.161del (p.Ile54ThrfsTer3) n.540+5513del | |
| 15 | g.42359966T>A | CA391994594 | CAPN3 | c.161T>A (p.Ile54Asn) n.540+5513T>A | |
| 15 | g.42359966T>C | CA7510864 | CAPN3 | c.161T>C (p.Ile54Thr) n.540+5513T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359966T>G | CA391994591 | CAPN3 | c.161T>G (p.Ile54Ser) n.540+5513T>G | |
| 15 | g.42359966T= | CA2172697391 | CAPN3 | c.161T= (p.Ile54=) n.540+5513T= | |
| 15 | g.42359967C>A | CA489999042 | CAPN3 | c.162C>A (p.Ile54=) n.540+5514C>A | |
| 15 | g.42359967C= | CA2172697392 | CAPN3 | c.162C= (p.Ile54=) n.540+5514C= | |
| 15 | g.42359967C>G | CA391994596 | CAPN3 | c.162C>G (p.Ile54Met) n.540+5514C>G | |
| 15 | g.42359967C>T | CA7510865 | CAPN3 | c.162C>T (p.Ile54=) n.540+5514C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42359968G>A | CA7510866 | CAPN3 | c.163G>A (p.Gly55Arg) n.540+5515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42359968G>C | CA391994601 | CAPN3 | c.163G>C (p.Gly55Arg) n.540+5515G>C | |
| 15 | g.42359968G= | CA2172697393 | CAPN3 | c.163G= (p.Gly55=) n.540+5515G= | |
| 15 | g.42359968G>T | CA391994603 | CAPN3 | c.163G>T (p.Gly55Ter) n.540+5515G>T | |
| 15 | g.42359969G>A | CA391994605 | CAPN3 | c.164G>A (p.Gly55Glu) n.540+5516G>A | |
| 15 | g.42359969G>C | CA269853887 | CAPN3 | c.164G>C (p.Gly55Ala) n.540+5516G>C | dbSNP |
| 15 | g.42359969G= | CA2172697394 | CAPN3 | c.164G= (p.Gly55=) n.540+5516G= | |
| 15 | g.42359969G>T | CA391994609 | CAPN3 | c.164G>T (p.Gly55Val) n.540+5516G>T | |
| 15 | g.42359970A>C | CA489999048 | CAPN3 | c.165A>C (p.Gly55=) n.540+5517A>C | |
| 15 | g.42359970A>G | CA489999049 | CAPN3 | c.165A>G (p.Gly55=) n.540+5517A>G | |
| 15 | g.42359970A>T | CA489999050 | CAPN3 | c.165A>T (p.Gly55=) n.540+5517A>T | |
| 15 | g.42359971G>A | CA391994612 | CAPN3 | c.166G>A (p.Val56Met) n.540+5518G>A | |
| 15 | g.42359971G>C | CA391994614 | CAPN3 | c.166G>C (p.Val56Leu) n.540+5518G>C | |
| 15 | g.42359971G>T | CA391994616 | CAPN3 | c.166G>T (p.Val56Leu) n.540+5518G>T | |
| 15 | g.42359972T>A | CA391994620 | CAPN3 | c.167T>A (p.Val56Glu) n.540+5519T>A | |
| 15 | g.42359972T>C | CA391994621 | CAPN3 | c.167T>C (p.Val56Ala) n.540+5519T>C | |
| 15 | g.42359972T>G | CA391994623 | CAPN3 | c.167T>G (p.Val56Gly) n.540+5519T>G | |
| 15 | g.42359973G>A | CA7510867 | CAPN3 | c.168G>A (p.Val56=) n.540+5520G>A | dbSNP ExAC |
| 15 | g.42359973G>C | CA489999053 | CAPN3 | c.168G>C (p.Val56=) n.540+5520G>C | |
| 15 | g.42359973G= | CA2172697395 | CAPN3 | c.168G= (p.Val56=) n.540+5520G= | |
| 15 | g.42359973G>T | CA489999055 | CAPN3 | c.168G>T (p.Val56=) n.540+5520G>T | |
| 15 | g.42359974A= | CA2172697396 | CAPN3 | c.169A= (p.Lys57=) n.540+5521A= | |
| 15 | g.42359974A>C | CA391994626 | CAPN3 | c.169A>C (p.Lys57Gln) n.540+5521A>C | gnomAD v4 |
| 15 | g.42359974A>G | CA7510868 | CAPN3 | c.169A>G (p.Lys57Glu) n.540+5521A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359974A>T | CA391994627 | CAPN3 | c.169A>T (p.Lys57Ter) n.540+5521A>T |