Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186074767T>ACA343911146HMCN1c.8166T>A (p.Asn2722Lys)
c.6189T>A (p.Asn2063Lys)
1g.186074767T>CCA1293058HMCN1c.8166T>C (p.Asn2722=)
c.6189T>C (p.Asn2063=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.186074767T>GCA343911149HMCN1c.8166T>G (p.Asn2722Lys)
c.6189T>G (p.Asn2063Lys)
1g.186074767T=CA1141022041HMCN1c.8166T= (p.Asn2722=)
c.6189T= (p.Asn2063=)
1g.186074768A>CCA343911150HMCN1c.8167A>C (p.Ile2723Leu)
c.6190A>C (p.Ile2064Leu)
1g.186074768A>GCA343911151HMCN1c.8167A>G (p.Ile2723Val)
c.6190A>G (p.Ile2064Val)
gnomAD v4
1g.186074768A>TCA343911152HMCN1c.8167A>T (p.Ile2723Phe)
c.6190A>T (p.Ile2064Phe)
1g.186074769T>ACA343911153HMCN1c.8168T>A (p.Ile2723Asn)
c.6191T>A (p.Ile2064Asn)
1g.186074769T>CCA343911154HMCN1c.8168T>C (p.Ile2723Thr)
c.6191T>C (p.Ile2064Thr)
1g.186074769T>GCA343911155HMCN1c.8168T>G (p.Ile2723Ser)
c.6191T>G (p.Ile2064Ser)
1g.186074770T>ACA422331128HMCN1c.8169T>A (p.Ile2723=)
c.6192T>A (p.Ile2064=)
1g.186074770T>CCA422331129HMCN1c.8169T>C (p.Ile2723=)
c.6192T>C (p.Ile2064=)
gnomAD v4
1g.186074770T>GCA343911157HMCN1c.8169T>G (p.Ile2723Met)
c.6192T>G (p.Ile2064Met)
1g.186074771G>ACA343911163HMCN1c.8170G>A (p.Ala2724Thr)
c.6193G>A (p.Ala2065Thr)
1g.186074771G>CCA343911165HMCN1c.8170G>C (p.Ala2724Pro)
c.6193G>C (p.Ala2065Pro)
1g.186074771G>TCA343911161HMCN1c.8170G>T (p.Ala2724Ser)
c.6193G>T (p.Ala2065Ser)
1g.186074772C>ACA343911170HMCN1c.8171C>A (p.Ala2724Asp)
c.6194C>A (p.Ala2065Asp)
1g.186074772C=CA1212986718HMCN1c.8171C= (p.Ala2724=)
c.6194C= (p.Ala2065=)
1g.186074772C>GCA343911167HMCN1c.8171C>G (p.Ala2724Gly)
c.6194C>G (p.Ala2065Gly)
1g.186074772C>TCA1293059HMCN1c.8171C>T (p.Ala2724Val)
c.6194C>T (p.Ala2065Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.186074773T>ACA422331131HMCN1c.8172T>A (p.Ala2724=)
c.6195T>A (p.Ala2065=)
1g.186074773T>CCA422331130HMCN1c.8172T>C (p.Ala2724=)
c.6195T>C (p.Ala2065=)
1g.186074773T>GCA422331132HMCN1c.8172T>G (p.Ala2724=)
c.6195T>G (p.Ala2065=)
1g.186074774G>ACA33468368HMCN1c.8173G>A (p.Ala2725Thr)
c.6196G>A (p.Ala2066Thr)
dbSNP gnomAD v3 gnomAD v4
1g.186074774G>CCA343911174HMCN1c.8173G>C (p.Ala2725Pro)
c.6196G>C (p.Ala2066Pro)
1g.186074774G=CA1148038511HMCN1c.8173G= (p.Ala2725=)
c.6196G= (p.Ala2066=)
1g.186074774G>TCA343911176HMCN1c.8173G>T (p.Ala2725Ser)
c.6196G>T (p.Ala2066Ser)
dbSNP gnomAD v3 gnomAD v4
1g.186074775C>ACA343911177HMCN1c.8174C>A (p.Ala2725Glu)
c.6197C>A (p.Ala2066Glu)
1g.186074775C=CA1141649014HMCN1c.8174C= (p.Ala2725=)
c.6197C= (p.Ala2066=)
1g.186074775C>GCA343911178HMCN1c.8174C>G (p.Ala2725Gly)
c.6197C>G (p.Ala2066Gly)
1g.186074775C>TCA1293060HMCN1c.8174C>T (p.Ala2725Val)
c.6197C>T (p.Ala2066Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.186074776G>ACA1293061HMCN1c.8175G>A (p.Ala2725=)
c.6198G>A (p.Ala2066=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.186074776G>CCA422331133HMCN1c.8175G>C (p.Ala2725=)
c.6198G>C (p.Ala2066=)
1g.186074776G=CA1143789215HMCN1c.8175G= (p.Ala2725=)
c.6198G= (p.Ala2066=)
1g.186074776G>TCA33468386HMCN1c.8175G>T (p.Ala2725=)
c.6198G>T (p.Ala2066=)
dbSNP gnomAD v2
1g.186074777A>CCA343911183HMCN1c.8176A>C (p.Asn2726His)
c.6199A>C (p.Asn2067His)
1g.186074777A>GCA343911184HMCN1c.8176A>G (p.Asn2726Asp)
c.6199A>G (p.Asn2067Asp)
1g.186074777A>TCA343911185HMCN1c.8176A>T (p.Asn2726Tyr)
c.6199A>T (p.Asn2067Tyr)
1g.186074778A=CA1212986719HMCN1c.8177A= (p.Asn2726=)
c.6200A= (p.Asn2067=)
1g.186074778A>CCA343911191HMCN1c.8177A>C (p.Asn2726Thr)
c.6200A>C (p.Asn2067Thr)
1g.186074778A>GCA343911187HMCN1c.8177A>G (p.Asn2726Ser)
c.6200A>G (p.Asn2067Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186074778A>TCA343911189HMCN1c.8177A>T (p.Asn2726Ile)
c.6200A>T (p.Asn2067Ile)
1g.186074779T>ACA343911193HMCN1c.8178T>A (p.Asn2726Lys)
c.6201T>A (p.Asn2067Lys)
gnomAD v4
1g.186074779T>CCA422331134HMCN1c.8178T>C (p.Asn2726=)
c.6201T>C (p.Asn2067=)
ClinVar
1g.186074779T>GCA343911194HMCN1c.8178T>G (p.Asn2726Lys)
c.6201T>G (p.Asn2067Lys)
gnomAD v4
1g.186074780G>ACA1293062HMCN1c.8179G>A (p.Gly2727Arg)
c.6202G>A (p.Gly2068Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.186074780G>CCA343911196HMCN1c.8179G>C (p.Gly2727Arg)
c.6202G>C (p.Gly2068Arg)
1g.186074780G=CA1212986720HMCN1c.8179G= (p.Gly2727=)
c.6202G= (p.Gly2068=)
1g.186074780G>TCA343911200HMCN1c.8179G>T (p.Gly2727Ter)
c.6202G>T (p.Gly2068Ter)
1g.186074781G>ACA1293063HMCN1c.8180G>A (p.Gly2727Glu)
c.6203G>A (p.Gly2068Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched