Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.186015285A= | CA1212962593 | HMCN1 | c.4757A= (p.Gln1586=) c.2780A= (p.Gln927=) | |
1 | g.186015285A>C | CA343885097 | HMCN1 | c.4757A>C (p.Gln1586Pro) c.2780A>C (p.Gln927Pro) | |
1 | g.186015285A>G | CA33453500 | HMCN1 | c.4757A>G (p.Gln1586Arg) c.2780A>G (p.Gln927Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186015285A>T | CA343885100 | HMCN1 | c.4757A>T (p.Gln1586Leu) c.2780A>T (p.Gln927Leu) | |
1 | g.186015286G>A | CA422327181 | HMCN1 | c.4758G>A (p.Gln1586=) c.2781G>A (p.Gln927=) | |
1 | g.186015286G>C | CA343885103 | HMCN1 | c.4758G>C (p.Gln1586His) c.2781G>C (p.Gln927His) | COSMIC |
1 | g.186015286G>T | CA343885105 | HMCN1 | c.4758G>T (p.Gln1586His) c.2781G>T (p.Gln927His) | |
1 | g.186015287C>A | CA343885107 | HMCN1 | c.4759C>A (p.Pro1587Thr) c.2782C>A (p.Pro928Thr) | |
1 | g.186015287C>G | CA343885109 | HMCN1 | c.4759C>G (p.Pro1587Ala) c.2782C>G (p.Pro928Ala) | |
1 | g.186015287C>T | CA343885110 | HMCN1 | c.4759C>T (p.Pro1587Ser) c.2782C>T (p.Pro928Ser) | |
1 | g.186015288C>A | CA343885111 | HMCN1 | c.4760C>A (p.Pro1587Gln) c.2783C>A (p.Pro928Gln) | |
1 | g.186015288C>G | CA343885112 | HMCN1 | c.4760C>G (p.Pro1587Arg) c.2783C>G (p.Pro928Arg) | gnomAD v4 |
1 | g.186015288C>T | CA343885113 | HMCN1 | c.4760C>T (p.Pro1587Leu) c.2783C>T (p.Pro928Leu) | |
1 | g.186015289A>C | CA422327182 | HMCN1 | c.4761A>C (p.Pro1587=) c.2784A>C (p.Pro928=) | |
1 | g.186015289A>G | CA422327183 | HMCN1 | c.4761A>G (p.Pro1587=) c.2784A>G (p.Pro928=) | |
1 | g.186015289A>T | CA422327184 | HMCN1 | c.4761A>T (p.Pro1587=) c.2784A>T (p.Pro928=) | |
1 | g.186015290A>C | CA343885115 | HMCN1 | c.4762A>C (p.Ile1588Leu) c.2785A>C (p.Ile929Leu) | |
1 | g.186015290A>G | CA343885116 | HMCN1 | c.4762A>G (p.Ile1588Val) c.2785A>G (p.Ile929Val) | gnomAD v4 |
1 | g.186015290A>T | CA343885114 | HMCN1 | c.4762A>T (p.Ile1588Phe) c.2785A>T (p.Ile929Phe) | |
1 | g.186015291T>A | CA343885120 | HMCN1 | c.4763T>A (p.Ile1588Asn) c.2786T>A (p.Ile929Asn) | |
1 | g.186015291T>C | CA343885119 | HMCN1 | c.4763T>C (p.Ile1588Thr) c.2786T>C (p.Ile929Thr) | |
1 | g.186015291T>G | CA343885121 | HMCN1 | c.4763T>G (p.Ile1588Ser) c.2786T>G (p.Ile929Ser) | |
1 | g.186015292C>A | CA422327185 | HMCN1 | c.4764C>A (p.Ile1588=) c.2787C>A (p.Ile929=) | |
1 | g.186015292C>G | CA343885122 | HMCN1 | c.4764C>G (p.Ile1588Met) c.2787C>G (p.Ile929Met) | |
1 | g.186015292C>T | CA422327186 | HMCN1 | c.4764C>T (p.Ile1588=) c.2787C>T (p.Ile929=) | |
1 | g.186015292_186015294delinsCAT | CA1212962594 | HMCN1 | c.4764_4766delinsCAT (p.Ile1588=) c.2787_2789delinsCAT (p.Ile929=) | |
1 | g.186015293A= | CA1212962595 | HMCN1 | c.4765A= (p.Met1589=) c.2788A= (p.Met930=) | |
1 | g.186015293A>C | CA343885123 | HMCN1 | c.4765A>C (p.Met1589Leu) c.2788A>C (p.Met930Leu) | |
1 | g.186015293A>G | CA343885125 | HMCN1 | c.4765A>G (p.Met1589Val) c.2788A>G (p.Met930Val) | |
1 | g.186015293A>T | CA1292093 | HMCN1 | c.4765A>T (p.Met1589Leu) c.2788A>T (p.Met930Leu) | dbSNP ExAC gnomAD v2 |
1 | g.186015293_186015294del | CA33453508 | HMCN1 | c.4765_4766del (p.Met1589ValfsTer9) c.2788_2789del (p.Met930ValfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.186015294T>A | CA343885127 | HMCN1 | c.4766T>A (p.Met1589Lys) c.2789T>A (p.Met930Lys) | |
1 | g.186015294T>C | CA343885131 | HMCN1 | c.4766T>C (p.Met1589Thr) c.2789T>C (p.Met930Thr) | |
1 | g.186015294T>G | CA343885132 | HMCN1 | c.4766T>G (p.Met1589Arg) c.2789T>G (p.Met930Arg) | |
1 | g.186015295G>A | CA343885134 | HMCN1 | c.4767G>A (p.Met1589Ile) c.2790G>A (p.Met930Ile) | |
1 | g.186015295G>C | CA343885136 | HMCN1 | c.4767G>C (p.Met1589Ile) c.2790G>C (p.Met930Ile) | |
1 | g.186015295G= | CA1212962596 | HMCN1 | c.4767G= (p.Met1589=) c.2790G= (p.Met930=) | |
1 | g.186015295G>T | CA33453531 | HMCN1 | c.4767G>T (p.Met1589Ile) c.2790G>T (p.Met930Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.186015296T>A | CA343885141 | HMCN1 | c.4768T>A (p.Ser1590Thr) c.2791T>A (p.Ser931Thr) | |
1 | g.186015296T>C | CA343885142 | HMCN1 | c.4768T>C (p.Ser1590Pro) c.2791T>C (p.Ser931Pro) | |
1 | g.186015296T>G | CA343885145 | HMCN1 | c.4768T>G (p.Ser1590Ala) c.2791T>G (p.Ser931Ala) | |
1 | g.186015297C>A | CA343885158 | HMCN1 | c.4769C>A (p.Ser1590Tyr) c.2792C>A (p.Ser931Tyr) | |
1 | g.186015297C>G | CA343885148 | HMCN1 | c.4769C>G (p.Ser1590Cys) c.2792C>G (p.Ser931Cys) | |
1 | g.186015297C>T | CA343885150 | HMCN1 | c.4769C>T (p.Ser1590Phe) c.2792C>T (p.Ser931Phe) | |
1 | g.186015298C>A | CA422327187 | HMCN1 | c.4770C>A (p.Ser1590=) c.2793C>A (p.Ser931=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.186015298C= | CA1212962597 | HMCN1 | c.4770C= (p.Ser1590=) c.2793C= (p.Ser931=) | |
1 | g.186015298C>G | CA422327188 | HMCN1 | c.4770C>G (p.Ser1590=) c.2793C>G (p.Ser931=) | |
1 | g.186015298C>T | CA422327189 | HMCN1 | c.4770C>T (p.Ser1590=) c.2793C>T (p.Ser931=) | |
1 | g.186015299A= | CA1212962598 | HMCN1 | c.4771A= (p.Ser1591=) c.2794A= (p.Ser932=) | |
1 | g.186015299A>C | CA343885161 | HMCN1 | c.4771A>C (p.Ser1591Arg) c.2794A>C (p.Ser932Arg) |