Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.186015285A=CA1212962593HMCN1c.4757A= (p.Gln1586=)
c.2780A= (p.Gln927=)
1g.186015285A>CCA343885097HMCN1c.4757A>C (p.Gln1586Pro)
c.2780A>C (p.Gln927Pro)
1g.186015285A>GCA33453500HMCN1c.4757A>G (p.Gln1586Arg)
c.2780A>G (p.Gln927Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.186015285A>TCA343885100HMCN1c.4757A>T (p.Gln1586Leu)
c.2780A>T (p.Gln927Leu)
1g.186015286G>ACA422327181HMCN1c.4758G>A (p.Gln1586=)
c.2781G>A (p.Gln927=)
1g.186015286G>CCA343885103HMCN1c.4758G>C (p.Gln1586His)
c.2781G>C (p.Gln927His)
COSMIC
1g.186015286G>TCA343885105HMCN1c.4758G>T (p.Gln1586His)
c.2781G>T (p.Gln927His)
1g.186015287C>ACA343885107HMCN1c.4759C>A (p.Pro1587Thr)
c.2782C>A (p.Pro928Thr)
1g.186015287C>GCA343885109HMCN1c.4759C>G (p.Pro1587Ala)
c.2782C>G (p.Pro928Ala)
1g.186015287C>TCA343885110HMCN1c.4759C>T (p.Pro1587Ser)
c.2782C>T (p.Pro928Ser)
1g.186015288C>ACA343885111HMCN1c.4760C>A (p.Pro1587Gln)
c.2783C>A (p.Pro928Gln)
1g.186015288C>GCA343885112HMCN1c.4760C>G (p.Pro1587Arg)
c.2783C>G (p.Pro928Arg)
gnomAD v4
1g.186015288C>TCA343885113HMCN1c.4760C>T (p.Pro1587Leu)
c.2783C>T (p.Pro928Leu)
1g.186015289A>CCA422327182HMCN1c.4761A>C (p.Pro1587=)
c.2784A>C (p.Pro928=)
1g.186015289A>GCA422327183HMCN1c.4761A>G (p.Pro1587=)
c.2784A>G (p.Pro928=)
1g.186015289A>TCA422327184HMCN1c.4761A>T (p.Pro1587=)
c.2784A>T (p.Pro928=)
1g.186015290A>CCA343885115HMCN1c.4762A>C (p.Ile1588Leu)
c.2785A>C (p.Ile929Leu)
1g.186015290A>GCA343885116HMCN1c.4762A>G (p.Ile1588Val)
c.2785A>G (p.Ile929Val)
gnomAD v4
1g.186015290A>TCA343885114HMCN1c.4762A>T (p.Ile1588Phe)
c.2785A>T (p.Ile929Phe)
1g.186015291T>ACA343885120HMCN1c.4763T>A (p.Ile1588Asn)
c.2786T>A (p.Ile929Asn)
1g.186015291T>CCA343885119HMCN1c.4763T>C (p.Ile1588Thr)
c.2786T>C (p.Ile929Thr)
1g.186015291T>GCA343885121HMCN1c.4763T>G (p.Ile1588Ser)
c.2786T>G (p.Ile929Ser)
1g.186015292C>ACA422327185HMCN1c.4764C>A (p.Ile1588=)
c.2787C>A (p.Ile929=)
1g.186015292C>GCA343885122HMCN1c.4764C>G (p.Ile1588Met)
c.2787C>G (p.Ile929Met)
1g.186015292C>TCA422327186HMCN1c.4764C>T (p.Ile1588=)
c.2787C>T (p.Ile929=)
1g.186015292_186015294delinsCATCA1212962594HMCN1c.4764_4766delinsCAT (p.Ile1588=)
c.2787_2789delinsCAT (p.Ile929=)
1g.186015293A=CA1212962595HMCN1c.4765A= (p.Met1589=)
c.2788A= (p.Met930=)
1g.186015293A>CCA343885123HMCN1c.4765A>C (p.Met1589Leu)
c.2788A>C (p.Met930Leu)
1g.186015293A>GCA343885125HMCN1c.4765A>G (p.Met1589Val)
c.2788A>G (p.Met930Val)
1g.186015293A>TCA1292093HMCN1c.4765A>T (p.Met1589Leu)
c.2788A>T (p.Met930Leu)
dbSNP ExAC gnomAD v2
1g.186015293_186015294delCA33453508HMCN1c.4765_4766del (p.Met1589ValfsTer9)
c.2788_2789del (p.Met930ValfsTer9)
dbSNP gnomAD v3 gnomAD v4
1g.186015294T>ACA343885127HMCN1c.4766T>A (p.Met1589Lys)
c.2789T>A (p.Met930Lys)
1g.186015294T>CCA343885131HMCN1c.4766T>C (p.Met1589Thr)
c.2789T>C (p.Met930Thr)
1g.186015294T>GCA343885132HMCN1c.4766T>G (p.Met1589Arg)
c.2789T>G (p.Met930Arg)
1g.186015295G>ACA343885134HMCN1c.4767G>A (p.Met1589Ile)
c.2790G>A (p.Met930Ile)
1g.186015295G>CCA343885136HMCN1c.4767G>C (p.Met1589Ile)
c.2790G>C (p.Met930Ile)
1g.186015295G=CA1212962596HMCN1c.4767G= (p.Met1589=)
c.2790G= (p.Met930=)
1g.186015295G>TCA33453531HMCN1c.4767G>T (p.Met1589Ile)
c.2790G>T (p.Met930Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.186015296T>ACA343885141HMCN1c.4768T>A (p.Ser1590Thr)
c.2791T>A (p.Ser931Thr)
1g.186015296T>CCA343885142HMCN1c.4768T>C (p.Ser1590Pro)
c.2791T>C (p.Ser931Pro)
1g.186015296T>GCA343885145HMCN1c.4768T>G (p.Ser1590Ala)
c.2791T>G (p.Ser931Ala)
1g.186015297C>ACA343885158HMCN1c.4769C>A (p.Ser1590Tyr)
c.2792C>A (p.Ser931Tyr)
1g.186015297C>GCA343885148HMCN1c.4769C>G (p.Ser1590Cys)
c.2792C>G (p.Ser931Cys)
1g.186015297C>TCA343885150HMCN1c.4769C>T (p.Ser1590Phe)
c.2792C>T (p.Ser931Phe)
1g.186015298C>ACA422327187HMCN1c.4770C>A (p.Ser1590=)
c.2793C>A (p.Ser931=)
dbSNP gnomAD v2 gnomAD v4
1g.186015298C=CA1212962597HMCN1c.4770C= (p.Ser1590=)
c.2793C= (p.Ser931=)
1g.186015298C>GCA422327188HMCN1c.4770C>G (p.Ser1590=)
c.2793C>G (p.Ser931=)
1g.186015298C>TCA422327189HMCN1c.4770C>T (p.Ser1590=)
c.2793C>T (p.Ser931=)
1g.186015299A=CA1212962598HMCN1c.4771A= (p.Ser1591=)
c.2794A= (p.Ser932=)
1g.186015299A>CCA343885161HMCN1c.4771A>C (p.Ser1591Arg)
c.2794A>C (p.Ser932Arg)

Number of alleles fetched