Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186174521T>ACA1295399HMCN1c.15822T>A (p.Asp5274Glu)
c.198T>A (p.Asp66Glu)
c.15537T>A (p.Asp5179Glu)
c.13845T>A (p.Asp4615Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186174521T>CCA1295398HMCN1c.15822T>C (p.Asp5274=)
c.198T>C (p.Asp66=)
c.15537T>C (p.Asp5179=)
c.13845T>C (p.Asp4615=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186174521T>GCA343934974HMCN1c.15822T>G (p.Asp5274Glu)
c.198T>G (p.Asp66Glu)
c.15537T>G (p.Asp5179Glu)
c.13845T>G (p.Asp4615Glu)
1g.186174521T=CA1140663342HMCN1c.15822T= (p.Asp5274=)
c.198T= (p.Asp66=)
c.15537T= (p.Asp5179=)
c.13845T= (p.Asp4615=)
1g.186174522G>ACA343935000HMCN1c.15823G>A (p.Glu5275Lys)
c.199G>A (p.Glu67Lys)
c.15538G>A (p.Glu5180Lys)
c.13846G>A (p.Glu4616Lys)
1g.186174522G>CCA343935004HMCN1c.15823G>C (p.Glu5275Gln)
c.199G>C (p.Glu67Gln)
c.15538G>C (p.Glu5180Gln)
c.13846G>C (p.Glu4616Gln)
gnomAD v4
1g.186174522G>TCA343935009HMCN1c.15823G>T (p.Glu5275Ter)
c.199G>T (p.Glu67Ter)
c.15538G>T (p.Glu5180Ter)
c.13846G>T (p.Glu4616Ter)
1g.186174523A=CA1213028330HMCN1c.15824A= (p.Glu5275=)
c.200A= (p.Glu67=)
c.15539A= (p.Glu5180=)
c.13847A= (p.Glu4616=)
1g.186174523A>CCA343935013HMCN1c.15824A>C (p.Glu5275Ala)
c.200A>C (p.Glu67Ala)
c.15539A>C (p.Glu5180Ala)
c.13847A>C (p.Glu4616Ala)
1g.186174523A>GCA343935020HMCN1c.15824A>G (p.Glu5275Gly)
c.200A>G (p.Glu67Gly)
c.15539A>G (p.Glu5180Gly)
c.13847A>G (p.Glu4616Gly)
1g.186174523A>TCA343935023HMCN1c.15824A>T (p.Glu5275Val)
c.200A>T (p.Glu67Val)
c.15539A>T (p.Glu5180Val)
c.13847A>T (p.Glu4616Val)
dbSNP gnomAD v3 gnomAD v4
1g.186174524A>CCA343935025HMCN1c.15825A>C (p.Glu5275Asp)
c.201A>C (p.Glu67Asp)
c.15540A>C (p.Glu5180Asp)
c.13848A>C (p.Glu4616Asp)
1g.186174524A>GCA422334951HMCN1c.15825A>G (p.Glu5275=)
c.201A>G (p.Glu67=)
c.15540A>G (p.Glu5180=)
c.13848A>G (p.Glu4616=)
gnomAD v4
1g.186174524A>TCA343935028HMCN1c.15825A>T (p.Glu5275Asp)
c.201A>T (p.Glu67Asp)
c.15540A>T (p.Glu5180Asp)
c.13848A>T (p.Glu4616Asp)
gnomAD v4
1g.186174525T>ACA343935031HMCN1c.15826T>A (p.Cys5276Ser)
c.202T>A (p.Cys68Ser)
c.15541T>A (p.Cys5181Ser)
c.13849T>A (p.Cys4617Ser)
1g.186174525T>CCA343935032HMCN1c.15826T>C (p.Cys5276Arg)
c.202T>C (p.Cys68Arg)
c.15541T>C (p.Cys5181Arg)
c.13849T>C (p.Cys4617Arg)
1g.186174525T>GCA343935033HMCN1c.15826T>G (p.Cys5276Gly)
c.202T>G (p.Cys68Gly)
c.15541T>G (p.Cys5181Gly)
c.13849T>G (p.Cys4617Gly)
1g.186174526G>ACA343935037HMCN1c.15827G>A (p.Cys5276Tyr)
c.203G>A (p.Cys68Tyr)
c.15542G>A (p.Cys5181Tyr)
c.13850G>A (p.Cys4617Tyr)
1g.186174526G>CCA343935035HMCN1c.15827G>C (p.Cys5276Ser)
c.203G>C (p.Cys68Ser)
c.15542G>C (p.Cys5181Ser)
c.13850G>C (p.Cys4617Ser)
1g.186174526G>TCA343935034HMCN1c.15827G>T (p.Cys5276Phe)
c.203G>T (p.Cys68Phe)
c.15542G>T (p.Cys5181Phe)
c.13850G>T (p.Cys4617Phe)
1g.186174527T>ACA343935039HMCN1c.15828T>A (p.Cys5276Ter)
c.204T>A (p.Cys68Ter)
c.15543T>A (p.Cys5181Ter)
c.13851T>A (p.Cys4617Ter)
1g.186174527T>CCA1295400HMCN1c.15828T>C (p.Cys5276=)
c.204T>C (p.Cys68=)
c.15543T>C (p.Cys5181=)
c.13851T>C (p.Cys4617=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186174527T>GCA343935048HMCN1c.15828T>G (p.Cys5276Trp)
c.204T>G (p.Cys68Trp)
c.15543T>G (p.Cys5181Trp)
c.13851T>G (p.Cys4617Trp)
dbSNP gnomAD v2 gnomAD v4
1g.186174527T=CA1147577410HMCN1c.15828T= (p.Cys5276=)
c.204T= (p.Cys68=)
c.15543T= (p.Cys5181=)
c.13851T= (p.Cys4617=)
1g.186174528A>CCA343935049HMCN1c.15829A>C (p.Lys5277Gln)
c.205A>C (p.Lys69Gln)
c.15544A>C (p.Lys5182Gln)
c.13852A>C (p.Lys4618Gln)
1g.186174528A>GCA343935050HMCN1c.15829A>G (p.Lys5277Glu)
c.205A>G (p.Lys69Glu)
c.15544A>G (p.Lys5182Glu)
c.13852A>G (p.Lys4618Glu)
gnomAD v4
1g.186174528A>TCA343935052HMCN1c.15829A>T (p.Lys5277Ter)
c.205A>T (p.Lys69Ter)
c.15544A>T (p.Lys5182Ter)
c.13852A>T (p.Lys4618Ter)
1g.186174529A=CA1213028331HMCN1c.15830A= (p.Lys5277=)
c.206A= (p.Lys69=)
c.15545A= (p.Lys5182=)
c.13853A= (p.Lys4618=)
1g.186174529A>CCA343935059HMCN1c.15830A>C (p.Lys5277Thr)
c.206A>C (p.Lys69Thr)
c.15545A>C (p.Lys5182Thr)
c.13853A>C (p.Lys4618Thr)
1g.186174529A>GCA343935077HMCN1c.15830A>G (p.Lys5277Arg)
c.206A>G (p.Lys69Arg)
c.15545A>G (p.Lys5182Arg)
c.13853A>G (p.Lys4618Arg)
dbSNP gnomAD v4
1g.186174529A>TCA343935095HMCN1c.15830A>T (p.Lys5277Ile)
c.206A>T (p.Lys69Ile)
c.15545A>T (p.Lys5182Ile)
c.13853A>T (p.Lys4618Ile)
1g.186174530A>CCA343935101HMCN1c.15831A>C (p.Lys5277Asn)
c.207A>C (p.Lys69Asn)
c.15546A>C (p.Lys5182Asn)
c.13854A>C (p.Lys4618Asn)
1g.186174530A>GCA422334955HMCN1c.15831A>G (p.Lys5277=)
c.207A>G (p.Lys69=)
c.15546A>G (p.Lys5182=)
c.13854A>G (p.Lys4618=)
1g.186174530A>TCA343935108HMCN1c.15831A>T (p.Lys5277Asn)
c.207A>T (p.Lys69Asn)
c.15546A>T (p.Lys5182Asn)
c.13854A>T (p.Lys4618Asn)
COSMIC
1g.186174531G>ACA343935123HMCN1c.15832G>A (p.Asp5278Asn)
c.208G>A (p.Asp70Asn)
c.15547G>A (p.Asp5183Asn)
c.13855G>A (p.Asp4619Asn)
gnomAD v4
1g.186174531G>CCA343935119HMCN1c.15832G>C (p.Asp5278His)
c.208G>C (p.Asp70His)
c.15547G>C (p.Asp5183His)
c.13855G>C (p.Asp4619His)
1g.186174531G=CA1213028332HMCN1c.15832G= (p.Asp5278=)
c.208G= (p.Asp70=)
c.15547G= (p.Asp5183=)
c.13855G= (p.Asp4619=)
1g.186174531G>TCA343935111HMCN1c.15832G>T (p.Asp5278Tyr)
c.208G>T (p.Asp70Tyr)
c.15547G>T (p.Asp5183Tyr)
c.13855G>T (p.Asp4619Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186174532A=CA1148259476HMCN1c.15833A= (p.Asp5278=)
c.209A= (p.Asp70=)
c.15548A= (p.Asp5183=)
c.13856A= (p.Asp4619=)
1g.186174532A>CCA343935126HMCN1c.15833A>C (p.Asp5278Ala)
c.209A>C (p.Asp70Ala)
c.15548A>C (p.Asp5183Ala)
c.13856A>C (p.Asp4619Ala)
1g.186174532A>GCA1295401HMCN1c.15833A>G (p.Asp5278Gly)
c.209A>G (p.Asp70Gly)
c.15548A>G (p.Asp5183Gly)
c.13856A>G (p.Asp4619Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.186174532A>TCA343935134HMCN1c.15833A>T (p.Asp5278Val)
c.209A>T (p.Asp70Val)
c.15548A>T (p.Asp5183Val)
c.13856A>T (p.Asp4619Val)
1g.186174533T>ACA343935139HMCN1c.15834T>A (p.Asp5278Glu)
c.210T>A (p.Asp70Glu)
c.15549T>A (p.Asp5183Glu)
c.13857T>A (p.Asp4619Glu)
1g.186174533T>CCA1295402HMCN1c.15834T>C (p.Asp5278=)
c.210T>C (p.Asp70=)
c.15549T>C (p.Asp5183=)
c.13857T>C (p.Asp4619=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186174533T>GCA343935143HMCN1c.15834T>G (p.Asp5278Glu)
c.210T>G (p.Asp70Glu)
c.15549T>G (p.Asp5183Glu)
c.13857T>G (p.Asp4619Glu)
1g.186174533T=CA1145092543HMCN1c.15834T= (p.Asp5278=)
c.210T= (p.Asp70=)
c.15549T= (p.Asp5183=)
c.13857T= (p.Asp4619=)
1g.186174534G>ACA343935145HMCN1c.15835G>A (p.Gly5279Arg)
c.211G>A (p.Gly71Arg)
c.15550G>A (p.Gly5184Arg)
c.13858G>A (p.Gly4620Arg)
1g.186174534G>CCA343935147HMCN1c.15835G>C (p.Gly5279Arg)
c.211G>C (p.Gly71Arg)
c.15550G>C (p.Gly5184Arg)
c.13858G>C (p.Gly4620Arg)
1g.186174534G>TCA343935151HMCN1c.15835G>T (p.Gly5279Trp)
c.211G>T (p.Gly71Trp)
c.15550G>T (p.Gly5184Trp)
c.13858G>T (p.Gly4620Trp)
1g.186174535G>ACA1295403HMCN1c.15836G>A (p.Gly5279Glu)
c.212G>A (p.Gly71Glu)
c.15551G>A (p.Gly5184Glu)
c.13859G>A (p.Gly4620Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched