Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.186074767T>A | CA343911146 | HMCN1 | c.8166T>A (p.Asn2722Lys) c.6189T>A (p.Asn2063Lys) | |
1 | g.186074767T>C | CA1293058 | HMCN1 | c.8166T>C (p.Asn2722=) c.6189T>C (p.Asn2063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186074767T>G | CA343911149 | HMCN1 | c.8166T>G (p.Asn2722Lys) c.6189T>G (p.Asn2063Lys) | |
1 | g.186074767T= | CA1141022041 | HMCN1 | c.8166T= (p.Asn2722=) c.6189T= (p.Asn2063=) | |
1 | g.186074768A>C | CA343911150 | HMCN1 | c.8167A>C (p.Ile2723Leu) c.6190A>C (p.Ile2064Leu) | |
1 | g.186074768A>G | CA343911151 | HMCN1 | c.8167A>G (p.Ile2723Val) c.6190A>G (p.Ile2064Val) | gnomAD v4 |
1 | g.186074768A>T | CA343911152 | HMCN1 | c.8167A>T (p.Ile2723Phe) c.6190A>T (p.Ile2064Phe) | |
1 | g.186074769T>A | CA343911153 | HMCN1 | c.8168T>A (p.Ile2723Asn) c.6191T>A (p.Ile2064Asn) | |
1 | g.186074769T>C | CA343911154 | HMCN1 | c.8168T>C (p.Ile2723Thr) c.6191T>C (p.Ile2064Thr) | |
1 | g.186074769T>G | CA343911155 | HMCN1 | c.8168T>G (p.Ile2723Ser) c.6191T>G (p.Ile2064Ser) | |
1 | g.186074770T>A | CA422331128 | HMCN1 | c.8169T>A (p.Ile2723=) c.6192T>A (p.Ile2064=) | |
1 | g.186074770T>C | CA422331129 | HMCN1 | c.8169T>C (p.Ile2723=) c.6192T>C (p.Ile2064=) | gnomAD v4 |
1 | g.186074770T>G | CA343911157 | HMCN1 | c.8169T>G (p.Ile2723Met) c.6192T>G (p.Ile2064Met) | |
1 | g.186074771G>A | CA343911163 | HMCN1 | c.8170G>A (p.Ala2724Thr) c.6193G>A (p.Ala2065Thr) | |
1 | g.186074771G>C | CA343911165 | HMCN1 | c.8170G>C (p.Ala2724Pro) c.6193G>C (p.Ala2065Pro) | |
1 | g.186074771G>T | CA343911161 | HMCN1 | c.8170G>T (p.Ala2724Ser) c.6193G>T (p.Ala2065Ser) | |
1 | g.186074772C>A | CA343911170 | HMCN1 | c.8171C>A (p.Ala2724Asp) c.6194C>A (p.Ala2065Asp) | |
1 | g.186074772C= | CA1212986718 | HMCN1 | c.8171C= (p.Ala2724=) c.6194C= (p.Ala2065=) | |
1 | g.186074772C>G | CA343911167 | HMCN1 | c.8171C>G (p.Ala2724Gly) c.6194C>G (p.Ala2065Gly) | |
1 | g.186074772C>T | CA1293059 | HMCN1 | c.8171C>T (p.Ala2724Val) c.6194C>T (p.Ala2065Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186074773T>A | CA422331131 | HMCN1 | c.8172T>A (p.Ala2724=) c.6195T>A (p.Ala2065=) | |
1 | g.186074773T>C | CA422331130 | HMCN1 | c.8172T>C (p.Ala2724=) c.6195T>C (p.Ala2065=) | |
1 | g.186074773T>G | CA422331132 | HMCN1 | c.8172T>G (p.Ala2724=) c.6195T>G (p.Ala2065=) | |
1 | g.186074774G>A | CA33468368 | HMCN1 | c.8173G>A (p.Ala2725Thr) c.6196G>A (p.Ala2066Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.186074774G>C | CA343911174 | HMCN1 | c.8173G>C (p.Ala2725Pro) c.6196G>C (p.Ala2066Pro) | |
1 | g.186074774G= | CA1148038511 | HMCN1 | c.8173G= (p.Ala2725=) c.6196G= (p.Ala2066=) | |
1 | g.186074774G>T | CA343911176 | HMCN1 | c.8173G>T (p.Ala2725Ser) c.6196G>T (p.Ala2066Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.186074775C>A | CA343911177 | HMCN1 | c.8174C>A (p.Ala2725Glu) c.6197C>A (p.Ala2066Glu) | |
1 | g.186074775C= | CA1141649014 | HMCN1 | c.8174C= (p.Ala2725=) c.6197C= (p.Ala2066=) | |
1 | g.186074775C>G | CA343911178 | HMCN1 | c.8174C>G (p.Ala2725Gly) c.6197C>G (p.Ala2066Gly) | |
1 | g.186074775C>T | CA1293060 | HMCN1 | c.8174C>T (p.Ala2725Val) c.6197C>T (p.Ala2066Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.186074776G>A | CA1293061 | HMCN1 | c.8175G>A (p.Ala2725=) c.6198G>A (p.Ala2066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.186074776G>C | CA422331133 | HMCN1 | c.8175G>C (p.Ala2725=) c.6198G>C (p.Ala2066=) | |
1 | g.186074776G= | CA1143789215 | HMCN1 | c.8175G= (p.Ala2725=) c.6198G= (p.Ala2066=) | |
1 | g.186074776G>T | CA33468386 | HMCN1 | c.8175G>T (p.Ala2725=) c.6198G>T (p.Ala2066=) | dbSNP gnomAD v2 |
1 | g.186074777A>C | CA343911183 | HMCN1 | c.8176A>C (p.Asn2726His) c.6199A>C (p.Asn2067His) | |
1 | g.186074777A>G | CA343911184 | HMCN1 | c.8176A>G (p.Asn2726Asp) c.6199A>G (p.Asn2067Asp) | |
1 | g.186074777A>T | CA343911185 | HMCN1 | c.8176A>T (p.Asn2726Tyr) c.6199A>T (p.Asn2067Tyr) | |
1 | g.186074778A= | CA1212986719 | HMCN1 | c.8177A= (p.Asn2726=) c.6200A= (p.Asn2067=) | |
1 | g.186074778A>C | CA343911191 | HMCN1 | c.8177A>C (p.Asn2726Thr) c.6200A>C (p.Asn2067Thr) | |
1 | g.186074778A>G | CA343911187 | HMCN1 | c.8177A>G (p.Asn2726Ser) c.6200A>G (p.Asn2067Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186074778A>T | CA343911189 | HMCN1 | c.8177A>T (p.Asn2726Ile) c.6200A>T (p.Asn2067Ile) | |
1 | g.186074779T>A | CA343911193 | HMCN1 | c.8178T>A (p.Asn2726Lys) c.6201T>A (p.Asn2067Lys) | gnomAD v4 |
1 | g.186074779T>C | CA422331134 | HMCN1 | c.8178T>C (p.Asn2726=) c.6201T>C (p.Asn2067=) | ClinVar |
1 | g.186074779T>G | CA343911194 | HMCN1 | c.8178T>G (p.Asn2726Lys) c.6201T>G (p.Asn2067Lys) | gnomAD v4 |
1 | g.186074780G>A | CA1293062 | HMCN1 | c.8179G>A (p.Gly2727Arg) c.6202G>A (p.Gly2068Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186074780G>C | CA343911196 | HMCN1 | c.8179G>C (p.Gly2727Arg) c.6202G>C (p.Gly2068Arg) | |
1 | g.186074780G= | CA1212986720 | HMCN1 | c.8179G= (p.Gly2727=) c.6202G= (p.Gly2068=) | |
1 | g.186074780G>T | CA343911200 | HMCN1 | c.8179G>T (p.Gly2727Ter) c.6202G>T (p.Gly2068Ter) | |
1 | g.186074781G>A | CA1293063 | HMCN1 | c.8180G>A (p.Gly2727Glu) c.6203G>A (p.Gly2068Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |