Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.19999538_20008463dupCA2580611595MATN3c.224-2153_1168+903dup
c.224-2153_1042+903dup
2g.20005978T>ACA345950856MATN3c.556A>T (p.Asn186Tyr)
2g.20005978T>CCA345950857MATN3c.556A>G (p.Asn186Asp)
2g.20005978T>GCA345950858MATN3c.556A>C (p.Asn186His)
2g.20005979A>CCA425341104MATN3c.555T>G (p.Ser185=)
2g.20005979A>GCA425341103MATN3c.555T>C (p.Ser185=)
2g.20005979A>TCA425341102MATN3c.555T>A (p.Ser185=)
2g.20005980G>ACA1543950MATN3c.554C>T (p.Ser185Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005980G>CCA345950859MATN3c.554C>G (p.Ser185Cys)
2g.20005980G=CA2493007918MATN3c.554C= (p.Ser185=)
2g.20005980G>TCA1543949MATN3c.554C>A (p.Ser185Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005981A=CA2493007919MATN3c.553T= (p.Ser185=)
2g.20005981A>CCA345950860MATN3c.553T>G (p.Ser185Ala)
2g.20005981A>GCA1543951MATN3c.553T>C (p.Ser185Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005981A>TCA345950861MATN3c.553T>A (p.Ser185Thr)
2g.20005982A>CCA425341105MATN3c.552T>G (p.Ser184=)
2g.20005982A>GCA425341106MATN3c.552T>C (p.Ser184=)
2g.20005982A>TCA425341107MATN3c.552T>A (p.Ser184=)
2g.20005983G>ACA345950862MATN3c.551C>T (p.Ser184Phe)
2g.20005983G>CCA345950864MATN3c.551C>G (p.Ser184Cys)
2g.20005983G=CA2493007920MATN3c.551C= (p.Ser184=)
2g.20005983G>TCA345950863MATN3c.551C>A (p.Ser184Tyr)
dbSNP
2g.20005984delCA2576684694MATN3c.550del (p.Ser184LeufsTer20)
2g.20005984A=CA2493007921MATN3c.550T= (p.Ser184=)
2g.20005984A>CCA345950865MATN3c.550T>G (p.Ser184Ala)
2g.20005984A>GCA43403824MATN3c.550T>C (p.Ser184Pro)
dbSNP gnomAD v4
2g.20005984A>TCA345950866MATN3c.550T>A (p.Ser184Thr)
2g.20005985G>ACA425341108MATN3c.549C>T (p.Pro183=)
2g.20005985G>CCA425341109MATN3c.549C>G (p.Pro183=)
2g.20005985G>TCA425341110MATN3c.549C>A (p.Pro183=)
2g.20005986G>ACA345950867MATN3c.548C>T (p.Pro183Leu)
dbSNP
2g.20005986G>CCA345950868MATN3c.548C>G (p.Pro183Arg)
2g.20005986G=CA2493007922MATN3c.548C= (p.Pro183=)
2g.20005986G>TCA345950869MATN3c.548C>A (p.Pro183His)
2g.20005986_20005987insTCA2658010982MATN3c.547_548insA (p.Pro183HisfsTer4)
gnomAD v4
2g.20005987G>ACA43403830MATN3c.547C>T (p.Pro183Ser)
dbSNP gnomAD v3 gnomAD v4
2g.20005987G>CCA345950870MATN3c.547C>G (p.Pro183Ala)
2g.20005987G=CA2493007923MATN3c.547C= (p.Pro183=)
2g.20005987G>TCA345950871MATN3c.547C>A (p.Pro183Thr)
2g.20005988C>ACA345950872MATN3c.546G>T (p.Glu182Asp)
2g.20005988C=CA2493007924MATN3c.546G= (p.Glu182=)
2g.20005988C>GCA345950873MATN3c.546G>C (p.Glu182Asp)
gnomAD v4
2g.20005988C>TCA425341111MATN3c.546G>A (p.Glu182=)
dbSNP gnomAD v2 gnomAD v4
2g.20005989T>ACA345950874MATN3c.545A>T (p.Glu182Val)
2g.20005989T>CCA345950875MATN3c.545A>G (p.Glu182Gly)
2g.20005989T>GCA345950876MATN3c.545A>C (p.Glu182Ala)
2g.20005990C>ACA345950879MATN3c.544G>T (p.Glu182Ter)
2g.20005990C=CA2493007925MATN3c.544G= (p.Glu182=)
2g.20005990C>GCA345950877MATN3c.544G>C (p.Glu182Gln)
dbSNP gnomAD v2 gnomAD v4
2g.20005990C>TCA345950878MATN3c.544G>A (p.Glu182Lys)
2g.20005991T>ACA425341112MATN3c.543A>T (p.Arg181=)
2g.20005991T>CCA425341113MATN3c.543A>G (p.Arg181=)
gnomAD v4
2g.20005991T>GCA425341114MATN3c.543A>C (p.Arg181=)
2g.20005992C>ACA345950880MATN3c.542G>T (p.Arg181Leu)
2g.20005992C=CA2493007926MATN3c.542G= (p.Arg181=)
2g.20005992C>GCA345950881MATN3c.542G>C (p.Arg181Pro)
2g.20005992C>TCA1543952MATN3c.542G>A (p.Arg181Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005993G>ACA1543954MATN3c.541C>T (p.Arg181Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005993G>CCA1543953MATN3c.541C>G (p.Arg181Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20005993G=CA2493007927MATN3c.541C= (p.Arg181=)
2g.20005993G>TCA425341115MATN3c.541C>A (p.Arg181=)
2g.20005994A>CCA425341116MATN3c.540T>G (p.Ala180=)
2g.20005994A>GCA425341117MATN3c.540T>C (p.Ala180=)
2g.20005994A>TCA425341118MATN3c.540T>A (p.Ala180=)
2g.20005995G>ACA345950882MATN3c.539C>T (p.Ala180Val)
2g.20005995G>CCA345950883MATN3c.539C>G (p.Ala180Gly)
2g.20005995G>TCA345950884MATN3c.539C>A (p.Ala180Asp)
2g.20005996C>ACA345950885MATN3c.538G>T (p.Ala180Ser)
gnomAD v4
2g.20005996C>GCA345950886MATN3c.538G>C (p.Ala180Pro)
2g.20005996C>TCA345950887MATN3c.538G>A (p.Ala180Thr)
2g.20005999delCA2658010993MATN3c.538del (p.Ala180LeufsTer24)
gnomAD v4
2g.20005997C>ACA425341119MATN3c.537G>T (p.Gly179=)
2g.20005997C=CA2493007928MATN3c.537G= (p.Gly179=)
2g.20005997C>GCA425341120MATN3c.537G>C (p.Gly179=)
2g.20005997C>TCA1543955MATN3c.537G>A (p.Gly179=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20005998C>ACA345950888MATN3c.536G>T (p.Gly179Val)
2g.20005998C=CA2493007929MATN3c.536G= (p.Gly179=)
2g.20005998C>GCA345950890MATN3c.536G>C (p.Gly179Ala)
2g.20005998C>TCA345950889MATN3c.536G>A (p.Gly179Glu)
dbSNP gnomAD v4
2g.20005999C>ACA345950891MATN3c.535G>T (p.Gly179Trp)
2g.20005999C=CA2493007930MATN3c.535G= (p.Gly179=)
2g.20005999C>GCA345950892MATN3c.535G>C (p.Gly179Arg)
2g.20005999C>TCA345950893MATN3c.535G>A (p.Gly179Arg)
dbSNP gnomAD v3 gnomAD v4
2g.20006000T>ACA425341123MATN3c.534A>T (p.Ala178=)
2g.20006000T>CCA425341122MATN3c.534A>G (p.Ala178=)
dbSNP gnomAD v3 gnomAD v4
2g.20006000T>GCA425341121MATN3c.534A>C (p.Ala178=)
2g.20006000T=CA2493007931MATN3c.534A= (p.Ala178=)
2g.20006001G>ACA345950894MATN3c.533C>T (p.Ala178Val)
dbSNP gnomAD v2 gnomAD v4
2g.20006001G>CCA345950895MATN3c.533C>G (p.Ala178Gly)
gnomAD v4
2g.20006001G=CA2493007932MATN3c.533C= (p.Ala178=)
2g.20006001G>TCA345950896MATN3c.533C>A (p.Ala178Glu)
2g.20006002C>ACA345950897MATN3c.532G>T (p.Ala178Ser)
2g.20006002C>GCA345950898MATN3c.532G>C (p.Ala178Pro)
2g.20006002C>TCA345950899MATN3c.532G>A (p.Ala178Thr)
2g.20006003C>ACA345950900MATN3c.531G>T (p.Glu177Asp)
2g.20006003C=CA2493007933MATN3c.531G= (p.Glu177=)
2g.20006003C>GCA345950901MATN3c.531G>C (p.Glu177Asp)
2g.20006003C>TCA425341124MATN3c.531G>A (p.Glu177=)
dbSNP gnomAD v4
2g.20006004T>ACA345950904MATN3c.530A>T (p.Glu177Val)
2g.20006004T>CCA345950903MATN3c.530A>G (p.Glu177Gly)
gnomAD v4
2g.20006004T>GCA345950902MATN3c.530A>C (p.Glu177Ala)
gnomAD v4
2g.20006008_20006025delCA2573133139MATN3c.513_530del (p.Asp171_Val176del)
ClinVar dbSNP
2g.20006005C>ACA345950905MATN3c.529G>T (p.Glu177Ter)
2g.20006005C>GCA345950906MATN3c.529G>C (p.Glu177Gln)
2g.20006005C>TCA345950907MATN3c.529G>A (p.Glu177Lys)
2g.20006006C>ACA425341125MATN3c.528G>T (p.Val176=)
2g.20006006C=CA2493007934MATN3c.528G= (p.Val176=)
2g.20006006C>GCA425341127MATN3c.528G>C (p.Val176=)
2g.20006006C>TCA425341126MATN3c.528G>A (p.Val176=)
dbSNP
2g.20006007A>CCA345950908MATN3c.527T>G (p.Val176Gly)
2g.20006007A>GCA345950909MATN3c.527T>C (p.Val176Ala)
2g.20006007A>TCA345950910MATN3c.527T>A (p.Val176Glu)
2g.20006008C>ACA1543956MATN3c.526G>T (p.Val176Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006008C=CA2493007935MATN3c.526G= (p.Val176=)
2g.20006008C>GCA43403846MATN3c.526G>C (p.Val176Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20006008C>TCA345950911MATN3c.526G>A (p.Val176Met)
dbSNP
2g.20006009T>ACA425341128MATN3c.525A>T (p.Thr175=)
2g.20006009T>CCA425341129MATN3c.525A>G (p.Thr175=)
2g.20006009T>GCA425341130MATN3c.525A>C (p.Thr175=)
2g.20006010G>ACA345950912MATN3c.524C>T (p.Thr175Ile)
gnomAD v4
2g.20006010G>CCA345950913MATN3c.524C>G (p.Thr175Arg)
2g.20006010G=CA2493007936MATN3c.524C= (p.Thr175=)
2g.20006010G>TCA345950914MATN3c.524C>A (p.Thr175Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.20006011T>ACA345950916MATN3c.523A>T (p.Thr175Ser)
2g.20006011T>CCA345950915MATN3c.523A>G (p.Thr175Ala)
gnomAD v4
2g.20006011T>GCA1543957MATN3c.523A>C (p.Thr175Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006011T=CA2493007937MATN3c.523A= (p.Thr175=)
2g.20006012G>ACA425341131MATN3c.522C>T (p.Phe174=)
2g.20006012G>CCA345950918MATN3c.522C>G (p.Phe174Leu)
2g.20006012G>TCA345950917MATN3c.522C>A (p.Phe174Leu)
2g.20006013A>CCA345950919MATN3c.521T>G (p.Phe174Cys)
2g.20006013A>GCA345950920MATN3c.521T>C (p.Phe174Ser)
ClinVar
2g.20006013A>TCA345950921MATN3c.521T>A (p.Phe174Tyr)
2g.20006014A=CA2493007938MATN3c.520T= (p.Phe174=)
2g.20006014A>CCA345950922MATN3c.520T>G (p.Phe174Val)
ClinVar dbSNP
2g.20006014A>GCA345950923MATN3c.520T>C (p.Phe174Leu)
2g.20006014A>TCA345950924MATN3c.520T>A (p.Phe174Ile)
2g.20006015G>ACA425341132MATN3c.519C>T (p.Ala173=)
COSMIC
2g.20006015G>CCA425341133MATN3c.519C>G (p.Ala173=)
2g.20006015G>TCA425341134MATN3c.519C>A (p.Ala173=)
2g.20006016G>ACA1543958MATN3c.518C>T (p.Ala173Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.20006016G>CCA345950925MATN3c.518C>G (p.Ala173Gly)
dbSNP gnomAD v3 gnomAD v4
2g.20006016G=CA2493007939MATN3c.518C= (p.Ala173=)
2g.20006016G>TCA241466MATN3c.518C>A (p.Ala173Asp)
ClinVar dbSNP gnomAD v4
2g.20006017C>ACA345950926MATN3c.517G>T (p.Ala173Ser)
2g.20006017C>GCA345950927MATN3c.517G>C (p.Ala173Pro)
2g.20006017C>TCA345950928MATN3c.517G>A (p.Ala173Thr)
2g.20006018T>ACA345950929MATN3c.516A>T (p.Glu172Asp)
2g.20006018T>CCA425341135MATN3c.516A>G (p.Glu172=)
2g.20006018T>GCA345950930MATN3c.516A>C (p.Glu172Asp)
2g.20006019T>ACA345950931MATN3c.515A>T (p.Glu172Val)
2g.20006019T>CCA345950933MATN3c.515A>G (p.Glu172Gly)
dbSNP gnomAD v4
2g.20006019T>GCA345950932MATN3c.515A>C (p.Glu172Ala)
2g.20006019T=CA2493007940MATN3c.515A= (p.Glu172=)
2g.20006020C>ACA345950934MATN3c.514G>T (p.Glu172Ter)
2g.20006020C=CA2493007941MATN3c.514G= (p.Glu172=)
2g.20006020C>GCA345950935MATN3c.514G>C (p.Glu172Gln)
2g.20006020C>TCA43403860MATN3c.514G>A (p.Glu172Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20006021G>ACA1543959MATN3c.513C>T (p.Asp171=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006021G>CCA345950936MATN3c.513C>G (p.Asp171Glu)
2g.20006021G=CA2493007942MATN3c.513C= (p.Asp171=)
2g.20006021G>TCA345950937MATN3c.513C>A (p.Asp171Glu)
2g.20006022T>ACA345950938MATN3c.512A>T (p.Asp171Val)
2g.20006022T>CCA345950939MATN3c.512A>G (p.Asp171Gly)
2g.20006022T>GCA345950940MATN3c.512A>C (p.Asp171Ala)
2g.20006023C>ACA345950941MATN3c.511G>T (p.Asp171Tyr)
2g.20006023C=CA2493007943MATN3c.511G= (p.Asp171=)
2g.20006023C>GCA345950942MATN3c.511G>C (p.Asp171His)
2g.20006023C>TCA1543960MATN3c.511G>A (p.Asp171Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006024C>ACA345950943MATN3c.510G>T (p.Met170Ile)
2g.20006024C=CA2493007944MATN3c.510G= (p.Met170=)
2g.20006024C>GCA345950944MATN3c.510G>C (p.Met170Ile)
2g.20006024C>TCA1543961MATN3c.510G>A (p.Met170Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006025A>CCA345950945MATN3c.509T>G (p.Met170Arg)
2g.20006025A>GCA345950946MATN3c.509T>C (p.Met170Thr)
gnomAD v4 COSMIC
2g.20006025A>TCA345950947MATN3c.509T>A (p.Met170Lys)
2g.20006026T>ACA345950948MATN3c.508A>T (p.Met170Leu)
2g.20006026T>CCA345950949MATN3c.508A>G (p.Met170Val)
2g.20006026T>GCA345950950MATN3c.508A>C (p.Met170Leu)
2g.20006027T>ACA425339807MATN3c.507A>T (p.Ala169=)
2g.20006027T>CCA425339808MATN3c.507A>G (p.Ala169=)
2g.20006027T>GCA425339809MATN3c.507A>C (p.Ala169=)
2g.20006028G>ACA345950951MATN3c.506C>T (p.Ala169Val)
dbSNP
2g.20006028G>CCA345950952MATN3c.506C>G (p.Ala169Gly)
2g.20006028G=CA2493007945MATN3c.506C= (p.Ala169=)
2g.20006028G>TCA345950953MATN3c.506C>A (p.Ala169Glu)
2g.20006029C>ACA345950954MATN3c.505G>T (p.Ala169Ser)
2g.20006029C=CA2493007946MATN3c.505G= (p.Ala169=)
2g.20006029C>GCA345950955MATN3c.505G>C (p.Ala169Pro)
2g.20006029C>TCA345950956MATN3c.505G>A (p.Ala169Thr)
dbSNP gnomAD v2 gnomAD v4
2g.20006030T>ACA425339810MATN3c.504A>T (p.Thr168=)
2g.20006030T>CCA425339811MATN3c.504A>G (p.Thr168=)
2g.20006030T>GCA425339812MATN3c.504A>C (p.Thr168=)
2g.20006031G>ACA345950959MATN3c.503C>T (p.Thr168Ile)
gnomAD v4 COSMIC
2g.20006031G>CCA345950957MATN3c.503C>G (p.Thr168Arg)
gnomAD v4
2g.20006031G=CA2493007947MATN3c.503C= (p.Thr168=)
2g.20006031G>TCA345950958MATN3c.503C>A (p.Thr168Lys)
dbSNP
2g.20006032T>ACA43403882MATN3c.502A>T (p.Thr168Ser)
dbSNP gnomAD v2 gnomAD v4
2g.20006032T>CCA345950960MATN3c.502A>G (p.Thr168Ala)
2g.20006032T>GCA345950961MATN3c.502A>C (p.Thr168Pro)
2g.20006032T=CA2493007948MATN3c.502A= (p.Thr168=)
2g.20006033C>ACA345950962MATN3c.501G>T (p.Gln167His)
COSMIC
2g.20006033C=CA2493007949MATN3c.501G= (p.Gln167=)
2g.20006033C>GCA345950963MATN3c.501G>C (p.Gln167His)
dbSNP gnomAD v4
2g.20006033C>TCA425339813MATN3c.501G>A (p.Gln167=)
2g.20006034T>ACA345950964MATN3c.500A>T (p.Gln167Leu)
2g.20006034T>CCA345950965MATN3c.500A>G (p.Gln167Arg)
gnomAD v4
2g.20006034T>GCA345950966MATN3c.500A>C (p.Gln167Pro)
2g.20006035G>ACA345950967MATN3c.499C>T (p.Gln167Ter)
COSMIC
2g.20006035G>CCA345950968MATN3c.499C>G (p.Gln167Glu)
2g.20006035G>TCA345950969MATN3c.499C>A (p.Gln167Lys)
2g.20006036G>ACA425339814MATN3c.498C>T (p.Ile166=)
2g.20006036G>CCA345950970MATN3c.498C>G (p.Ile166Met)
2g.20006036G>TCA425339815MATN3c.498C>A (p.Ile166=)
2g.20006037A>CCA345950972MATN3c.497T>G (p.Ile166Ser)
2g.20006037A>GCA345950973MATN3c.497T>C (p.Ile166Thr)
ClinVar dbSNP gnomAD v4
2g.20006037A>TCA345950971MATN3c.497T>A (p.Ile166Asn)
2g.20006038T>ACA1543962MATN3c.496A>T (p.Ile166Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20006038T>CCA345950975MATN3c.496A>G (p.Ile166Val)
dbSNP gnomAD v3 gnomAD v4
2g.20006038T>GCA345950974MATN3c.496A>C (p.Ile166Leu)
2g.20006038T=CA2493007950MATN3c.496A= (p.Ile166=)
2g.20006039G>ACA425339816MATN3c.495C>T (p.Ala165=)
2g.20006039G>CCA425339817MATN3c.495C>G (p.Ala165=)
2g.20006039G>TCA425339818MATN3c.495C>A (p.Ala165=)
2g.20006040G>ACA345950976MATN3c.494C>T (p.Ala165Val)
2g.20006040G>CCA345950978MATN3c.494C>G (p.Ala165Gly)
2g.20006040G>TCA345950977MATN3c.494C>A (p.Ala165Asp)
2g.20006041C>ACA345950979MATN3c.493G>T (p.Ala165Ser)
2g.20006041C>GCA345950980MATN3c.493G>C (p.Ala165Pro)
2g.20006041C>TCA345950981MATN3c.493G>A (p.Ala165Thr)
2g.20006042T>ACA425339819MATN3c.492A>T (p.Leu164=)
dbSNP gnomAD v2 gnomAD v4
2g.20006042T>CCA425339820MATN3c.492A>G (p.Leu164=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20006042T>GCA425339821MATN3c.492A>C (p.Leu164=)
gnomAD v4
2g.20006042T=CA2493007951MATN3c.492A= (p.Leu164=)
2g.20006043A>CCA345950982MATN3c.491T>G (p.Leu164Arg)
2g.20006043A>GCA345950983MATN3c.491T>C (p.Leu164Pro)
2g.20006043A>TCA345950984MATN3c.491T>A (p.Leu164Gln)
2g.20006044G>ACA425339822MATN3c.490C>T (p.Leu164=)
gnomAD v4
2g.20006044G>CCA1543963MATN3c.490C>G (p.Leu164Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.20006044G=CA2493007952MATN3c.490C= (p.Leu164=)
2g.20006044G>TCA345950985MATN3c.490C>A (p.Leu164Ile)
2g.20006045G>ACA425339823MATN3c.489C>T (p.Gly163=)
dbSNP
2g.20006045G>CCA425339824MATN3c.489C>G (p.Gly163=)
2g.20006045G=CA2493007953MATN3c.489C= (p.Gly163=)
2g.20006045G>TCA425339825MATN3c.489C>A (p.Gly163=)
2g.20006046C>ACA345950986MATN3c.488G>T (p.Gly163Val)
dbSNP gnomAD v3 gnomAD v4
2g.20006046C=CA2493007954MATN3c.488G= (p.Gly163=)
2g.20006046C>GCA345950987MATN3c.488G>C (p.Gly163Ala)
2g.20006046C>TCA345950988MATN3c.488G>A (p.Gly163Asp)
gnomAD v4
2g.20006047C>ACA345950989MATN3c.487G>T (p.Gly163Cys)
2g.20006047C=CA2493007955MATN3c.487G= (p.Gly163=)
2g.20006047C>GCA345950991MATN3c.487G>C (p.Gly163Arg)
dbSNP gnomAD v3 gnomAD v4
2g.20006047C>TCA345950990MATN3c.487G>A (p.Gly163Ser)
2g.20006048T>ACA425339826MATN3c.486A>T (p.Ser162=)
2g.20006048T>CCA425339827MATN3c.486A>G (p.Ser162=)
2g.20006048T>GCA425339828MATN3c.486A>C (p.Ser162=)
2g.20006049G>ACA345950992MATN3c.485C>T (p.Ser162Leu)
2g.20006049G>CCA345950993MATN3c.485C>G (p.Ser162Ter)
2g.20006049G>TCA345950994MATN3c.485C>A (p.Ser162Ter)
2g.20006050A=CA2493007956MATN3c.484T= (p.Ser162=)
2g.20006050A>CCA345950995MATN3c.484T>G (p.Ser162Ala)
2g.20006050A>GCA345950996MATN3c.484T>C (p.Ser162Pro)
dbSNP gnomAD v2 gnomAD v4
2g.20006050A>TCA345950997MATN3c.484T>A (p.Ser162Thr)
2g.20006051C>ACA345950998MATN3c.483G>T (p.Met161Ile)
2g.20006051C>GCA345950999MATN3c.483G>C (p.Met161Ile)
2g.20006051C>TCA345951000MATN3c.483G>A (p.Met161Ile)
2g.20006052A=CA2493007957MATN3c.482T= (p.Met161=)
2g.20006052A>CCA345951002MATN3c.482T>G (p.Met161Arg)
2g.20006052A>GCA345951003MATN3c.482T>C (p.Met161Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20006052A>TCA345951001MATN3c.482T>A (p.Met161Lys)
2g.20006053T>ACA345951004MATN3c.481A>T (p.Met161Leu)
2g.20006053T>CCA1543964MATN3c.481A>G (p.Met161Val)
dbSNP ExAC gnomAD v2
2g.20006053T>GCA345951005MATN3c.481A>C (p.Met161Leu)
2g.20006053T=CA2493007958MATN3c.481A= (p.Met161=)
2g.20006054G>ACA425339829MATN3c.480C>T (p.Thr160=)
dbSNP gnomAD v4
2g.20006054G>CCA1543965MATN3c.480C>G (p.Thr160=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.20006054G=CA2493007959MATN3c.480C= (p.Thr160=)
2g.20006054G>TCA425339830MATN3c.480C>A (p.Thr160=)
2g.20006055G>ACA345951008MATN3c.479C>T (p.Thr160Ile)
gnomAD v4
2g.20006055G>CCA345951007MATN3c.479C>G (p.Thr160Ser)
2g.20006055G>TCA345951006MATN3c.479C>A (p.Thr160Asn)
gnomAD v4
2g.20006056T>ACA345951009MATN3c.478A>T (p.Thr160Ser)
2g.20006056T>CCA345951010MATN3c.478A>G (p.Thr160Ala)
dbSNP gnomAD v4
2g.20006056T>GCA345951011MATN3c.478A>C (p.Thr160Pro)
2g.20006056T=CA2493007960MATN3c.478A= (p.Thr160=)
2g.20006057G>ACA425339831MATN3c.477C>T (p.Gly159=)
ClinVar dbSNP
2g.20006057G>CCA425339832MATN3c.477C>G (p.Gly159=)
ClinVar dbSNP gnomAD v4
2g.20006057G=CA2493007961MATN3c.477C= (p.Gly159=)
2g.20006057G>TCA425339833MATN3c.477C>A (p.Gly159=)
2g.20006058C>ACA345951012MATN3c.476G>T (p.Gly159Val)
2g.20006058C=CA2493007962MATN3c.476G= (p.Gly159=)
2g.20006058C>GCA345951013MATN3c.476G>C (p.Gly159Ala)
gnomAD v4
2g.20006058C>TCA345951014MATN3c.476G>A (p.Gly159Asp)
dbSNP gnomAD v2 gnomAD v4
2g.20006059C>ACA345951015MATN3c.475G>T (p.Gly159Cys)
2g.20006059C=CA2493007963MATN3c.475G= (p.Gly159=)
2g.20006059C>GCA345951017MATN3c.475G>C (p.Gly159Arg)
2g.20006059C>TCA345951016MATN3c.475G>A (p.Gly159Ser)
gnomAD v4
2g.20006060T>ACA425339834MATN3c.474A>T (p.Thr158=)
2g.20006060T>CCA425339835MATN3c.474A>G (p.Thr158=)
gnomAD v4
2g.20006060T>GCA425339836MATN3c.474A>C (p.Thr158=)
2g.20006062_20006075dupCA530995670MATN3c.461_474dup (p.Gly159HisfsTer11)
dbSNP gnomAD v2 gnomAD v4
2g.20006061G>ACA345951018MATN3c.473C>T (p.Thr158Ile)
2g.20006061G>CCA345951019MATN3c.473C>G (p.Thr158Arg)
2g.20006061G>TCA345951020MATN3c.473C>A (p.Thr158Lys)
2g.20006062T>ACA345951021MATN3c.472A>T (p.Thr158Ser)
2g.20006062T>CCA345951022MATN3c.472A>G (p.Thr158Ala)
gnomAD v4
2g.20006062T>GCA345951023MATN3c.472A>C (p.Thr158Pro)
2g.20006063T>ACA425339837MATN3c.471A>T (p.Ser157=)
2g.20006063T>CCA425339838MATN3c.471A>G (p.Ser157=)
2g.20006063T>GCA425339839MATN3c.471A>C (p.Ser157=)
2g.20006064G>ACA43403928MATN3c.470C>T (p.Ser157Leu)
dbSNP gnomAD v2
2g.20006064G>CCA345951024MATN3c.470C>G (p.Ser157Ter)
2g.20006064G=CA2493007964MATN3c.470C= (p.Ser157=)
2g.20006064G>TCA345951025MATN3c.470C>A (p.Ser157Ter)
gnomAD v4
2g.20006065A>CCA345951026MATN3c.469T>G (p.Ser157Ala)
gnomAD v4
2g.20006065A>GCA345951027MATN3c.469T>C (p.Ser157Pro)
2g.20006065A>TCA345951028MATN3c.469T>A (p.Ser157Thr)
2g.20006066C>ACA345951030MATN3c.468G>T (p.Leu156Phe)
gnomAD v4
2g.20006066C>GCA345951029MATN3c.468G>C (p.Leu156Phe)
2g.20006066C>TCA425339840MATN3c.468G>A (p.Leu156=)
2g.20006067A>CCA345951031MATN3c.467T>G (p.Leu156Trp)
2g.20006067A>GCA345951033MATN3c.467T>C (p.Leu156Ser)
2g.20006067A>TCA345951032MATN3c.467T>A (p.Leu156Ter)
2g.20006068A=CA2493007965MATN3c.466T= (p.Leu156=)
2g.20006068A>CCA345951034MATN3c.466T>G (p.Leu156Val)
2g.20006068A>GCA425339841MATN3c.466T>C (p.Leu156=)
2g.20006068A>TCA345951035MATN3c.466T>A (p.Leu156Met)
dbSNP gnomAD v3 gnomAD v4
2g.20006069G>ACA425339842MATN3c.465C>T (p.Pro155=)
gnomAD v4
2g.20006069G>CCA425339843MATN3c.465C>G (p.Pro155=)
gnomAD v4
2g.20006069G>TCA425339844MATN3c.465C>A (p.Pro155=)
2g.20006070G>ACA345951036MATN3c.464C>T (p.Pro155Leu)
2g.20006070G>CCA345951037MATN3c.464C>G (p.Pro155Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.20006070G=CA2493007966MATN3c.464C= (p.Pro155=)
2g.20006070G>TCA345951038MATN3c.464C>A (p.Pro155His)
2g.20006071G>ACA345951039MATN3c.463C>T (p.Pro155Ser)
gnomAD v4
2g.20006071G>CCA345951040MATN3c.463C>G (p.Pro155Ala)
2g.20006071G>TCA345951041MATN3c.463C>A (p.Pro155Thr)
2g.20006072T>ACA425339845MATN3c.462A>T (p.Thr154=)
2g.20006072T>CCA425339846MATN3c.462A>G (p.Thr154=)
2g.20006072T>GCA425339847MATN3c.462A>C (p.Thr154=)
dbSNP gnomAD v4
2g.20006072T=CA2493007967MATN3c.462A= (p.Thr154=)
2g.20006073G>ACA1543966MATN3c.461C>T (p.Thr154Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006073G>CCA345951042MATN3c.461C>G (p.Thr154Arg)
2g.20006073G=CA2493007968MATN3c.461C= (p.Thr154=)
2g.20006073G>TCA345951043MATN3c.461C>A (p.Thr154Lys)
2g.20006074T>ACA1543967MATN3c.460A>T (p.Thr154Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.20006074T>CCA345951045MATN3c.460A>G (p.Thr154Ala)
2g.20006074T>GCA345951044MATN3c.460A>C (p.Thr154Pro)
2g.20006074T=CA2493007969MATN3c.460A= (p.Thr154=)
2g.20006075G>ACA425339849MATN3c.459C>T (p.Ile153=)
2g.20006075G>CCA345951046MATN3c.459C>G (p.Ile153Met)
2g.20006075G>TCA425339848MATN3c.459C>A (p.Ile153=)
2g.20006076A>CCA345951047MATN3c.458T>G (p.Ile153Ser)
2g.20006076A>GCA345951048MATN3c.458T>C (p.Ile153Thr)
2g.20006076A>TCA345951049MATN3c.458T>A (p.Ile153Asn)
2g.20006077T>ACA345951050MATN3c.457A>T (p.Ile153Phe)
2g.20006077T>CCA345951051MATN3c.457A>G (p.Ile153Val)
2g.20006077T>GCA345951052MATN3c.457A>C (p.Ile153Leu)
2g.20006078T>ACA425339850MATN3c.456A>T (p.Arg152=)
2g.20006078T>CCA425339851MATN3c.456A>G (p.Arg152=)
2g.20006078T>GCA425339852MATN3c.456A>C (p.Arg152=)

Number of alleles fetched