Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.97611585G>ACA5634308HOGA1c.910G>A (p.Ala304Thr)
c.421G>A (p.Ala141Thr)
c.345+9595G>A (n.345+9595G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.97611585G>CCA377983559HOGA1c.910G>C (p.Ala304Pro)
c.421G>C (p.Ala141Pro)
c.345+9595G>C (n.345+9595G>C)
10g.97611585G=CA1930507062HOGA1c.910G= (p.Ala304=)
c.421G= (p.Ala141=)
c.345+9595G= (n.345+9595G=)
10g.97611585G>TCA377983561HOGA1c.910G>T (p.Ala304Ser)
c.421G>T (p.Ala141Ser)
c.345+9595G>T (n.345+9595G>T)
10g.97611585_97611586insTCA2610415652HOGA1c.910_911insT (p.Ala304ValfsTer10)
c.421_422insT (p.Ala141ValfsTer10)
c.345+9595_345+9596insT (n.345+9595_345+9596insT)
 gnomAD v4
10g.97611586C>ACA377983565HOGA1c.911C>A (p.Ala304Asp)
c.422C>A (p.Ala141Asp)
c.345+9596C>A (n.345+9596C>A)
10g.97611586C=CA1930507065HOGA1c.911C= (p.Ala304=)
c.422C= (p.Ala141=)
c.345+9596C= (n.345+9596C=)
10g.97611586C>GCA377983567HOGA1c.911C>G (p.Ala304Gly)
c.422C>G (p.Ala141Gly)
c.345+9596C>G (n.345+9596C>G)
10g.97611586C>TCA5634309HOGA1c.911C>T (p.Ala304Val)
c.422C>T (p.Ala141Val)
c.345+9596C>T (n.345+9596C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611590delCA2610415653HOGA1c.915del (p.Leu306CysfsTer4)
c.426del (p.Leu143CysfsTer4)
c.345+9600del (n.345+9600del)
 gnomAD v4
10g.97611587C>ACA203934HOGA1c.912C>A (p.Ala304=)
c.423C>A (p.Ala141=)
c.345+9597C>A (n.345+9597C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611587C=CA1930507069HOGA1c.912C= (p.Ala304=)
c.423C= (p.Ala141=)
c.345+9597C= (n.345+9597C=)
10g.97611587C>GCA471092784HOGA1c.912C>G (p.Ala304=)
c.423C>G (p.Ala141=)
c.345+9597C>G (n.345+9597C>G)
10g.97611587C>TCA471092785HOGA1c.912C>T (p.Ala304=)
c.423C>T (p.Ala141=)
c.345+9597C>T (n.345+9597C>T)
10g.97611588C>ACA377983573HOGA1c.913C>A (p.Pro305Thr)
c.424C>A (p.Pro142Thr)
c.345+9598C>A (n.345+9598C>A)
10g.97611588C=CA1930507072HOGA1c.913C= (p.Pro305=)
c.424C= (p.Pro142=)
c.345+9598C= (n.345+9598C=)
10g.97611588C>GCA377983575HOGA1c.913C>G (p.Pro305Ala)
c.424C>G (p.Pro142Ala)
c.345+9598C>G (n.345+9598C>G)
10g.97611588C>TCA377983577HOGA1c.913C>T (p.Pro305Ser)
c.424C>T (p.Pro142Ser)
c.345+9598C>T (n.345+9598C>T)
 dbSNP gnomAD v4
10g.97611589C>ACA377983579HOGA1c.914C>A (p.Pro305His)
c.425C>A (p.Pro142His)
c.345+9599C>A (n.345+9599C>A)
10g.97611589C>GCA377983581HOGA1c.914C>G (p.Pro305Arg)
c.425C>G (p.Pro142Arg)
c.345+9599C>G (n.345+9599C>G)
10g.97611589C>TCA377983583HOGA1c.914C>T (p.Pro305Leu)
c.425C>T (p.Pro142Leu)
c.345+9599C>T (n.345+9599C>T)
10g.97611590C>ACA471092786HOGA1c.915C>A (p.Pro305=)
c.426C>A (p.Pro142=)
c.345+9600C>A (n.345+9600C>A)
10g.97611590C=CA1930507074HOGA1c.915C= (p.Pro305=)
c.426C= (p.Pro142=)
c.345+9600C= (n.345+9600C=)
10g.97611590C>GCA471092787HOGA1c.915C>G (p.Pro305=)
c.426C>G (p.Pro142=)
c.345+9600C>G (n.345+9600C>G)
 gnomAD v4
10g.97611590C>TCA471092788HOGA1c.915C>T (p.Pro305=)
c.426C>T (p.Pro142=)
c.345+9600C>T (n.345+9600C>T)
 dbSNP
10g.97611591T>ACA377983588HOGA1c.916T>A (p.Leu306Met)
c.427T>A (p.Leu143Met)
c.345+9601T>A (n.345+9601T>A)
10g.97611591T>CCA471092789HOGA1c.916T>C (p.Leu306=)
c.427T>C (p.Leu143=)
c.345+9601T>C (n.345+9601T>C)
 gnomAD v4
10g.97611591T>GCA377983586HOGA1c.916T>G (p.Leu306Val)
c.427T>G (p.Leu143Val)
c.345+9601T>G (n.345+9601T>G)
10g.97611592T>ACA377983590HOGA1c.917T>A (p.Leu306Ter)
c.428T>A (p.Leu143Ter)
c.345+9602T>A (n.345+9602T>A)
10g.97611592T>CCA377983592HOGA1c.917T>C (p.Leu306Ser)
c.428T>C (p.Leu143Ser)
c.345+9602T>C (n.345+9602T>C)
10g.97611592T>GCA377983594HOGA1c.917T>G (p.Leu306Trp)
c.428T>G (p.Leu143Trp)
c.345+9602T>G (n.345+9602T>G)
10g.97611593G>ACA471092790HOGA1c.918G>A (p.Leu306=)
c.429G>A (p.Leu143=)
c.345+9603G>A (n.345+9603G>A)
10g.97611593G>CCA377983597HOGA1c.918G>C (p.Leu306Phe)
c.429G>C (p.Leu143Phe)
c.345+9603G>C (n.345+9603G>C)
10g.97611593G>TCA377983599HOGA1c.918G>T (p.Leu306Phe)
c.429G>T (p.Leu143Phe)
c.345+9603G>T (n.345+9603G>T)
10g.97611594C>ACA377983602HOGA1c.919C>A (p.Gln307Lys)
c.430C>A (p.Gln144Lys)
c.345+9604C>A (n.345+9604C>A)
10g.97611594C>GCA377983604HOGA1c.919C>G (p.Gln307Glu)
c.430C>G (p.Gln144Glu)
c.345+9604C>G (n.345+9604C>G)
10g.97611594C>TCA377983607HOGA1c.919C>T (p.Gln307Ter)
c.430C>T (p.Gln144Ter)
c.345+9604C>T (n.345+9604C>T)
 gnomAD v4
10g.97611595A=CA1930507076HOGA1c.920A= (p.Gln307=)
c.431A= (p.Gln144=)
c.345+9605A= (n.345+9605A=)
10g.97611595A>CCA377983611HOGA1c.920A>C (p.Gln307Pro)
c.431A>C (p.Gln144Pro)
c.345+9605A>C (n.345+9605A>C)
 dbSNP
10g.97611595A>GCA377983612HOGA1c.920A>G (p.Gln307Arg)
c.431A>G (p.Gln144Arg)
c.345+9605A>G (n.345+9605A>G)
 dbSNP gnomAD v2 gnomAD v4
10g.97611595A>TCA377983614HOGA1c.920A>T (p.Gln307Leu)
c.431A>T (p.Gln144Leu)
c.345+9605A>T (n.345+9605A>T)
 gnomAD v4
10g.97611596G>ACA471092791HOGA1c.921G>A (p.Gln307=)
c.432G>A (p.Gln144=)
c.345+9606G>A (n.345+9606G>A)
10g.97611596G>CCA377983616HOGA1c.921G>C (p.Gln307His)
c.432G>C (p.Gln144His)
c.345+9606G>C (n.345+9606G>C)
10g.97611596G>TCA377983617HOGA1c.921G>T (p.Gln307His)
c.432G>T (p.Gln144His)
c.345+9606G>T (n.345+9606G>T)
10g.97611597G>ACA377983622HOGA1c.922G>A (p.Glu308Lys)
c.433G>A (p.Glu145Lys)
c.345+9607G>A (n.345+9607G>A)
10g.97611597G>CCA377983624HOGA1c.922G>C (p.Glu308Gln)
c.433G>C (p.Glu145Gln)
c.345+9607G>C (n.345+9607G>C)
10g.97611597G>TCA377983621HOGA1c.922G>T (p.Glu308Ter)
c.433G>T (p.Glu145Ter)
c.345+9607G>T (n.345+9607G>T)
10g.97611598A>CCA377983632HOGA1c.923A>C (p.Glu308Ala)
c.434A>C (p.Glu145Ala)
c.345+9608A>C (n.345+9608A>C)
10g.97611598A>GCA377983627HOGA1c.923A>G (p.Glu308Gly)
c.434A>G (p.Glu145Gly)
c.345+9608A>G (n.345+9608A>G)
 dbSNP
10g.97611598A>TCA377983629HOGA1c.923A>T (p.Glu308Val)
c.434A>T (p.Glu145Val)
c.345+9608A>T (n.345+9608A>T)
10g.97611599G>ACA471092792HOGA1c.924G>A (p.Glu308=)
c.435G>A (p.Glu145=)
c.345+9609G>A (n.345+9609G>A)
 ClinVar dbSNP
10g.97611599G>CCA377983635HOGA1c.924G>C (p.Glu308Asp)
c.435G>C (p.Glu145Asp)
c.345+9609G>C (n.345+9609G>C)
10g.97611599G=CA1930507079HOGA1c.924G= (p.Glu308=)
c.435G= (p.Glu145=)
c.345+9609G= (n.345+9609G=)
10g.97611599G>TCA377983636HOGA1c.924G>T (p.Glu308Asp)
c.435G>T (p.Glu145Asp)
c.345+9609G>T (n.345+9609G>T)
10g.97611600C>ACA377983640HOGA1c.925C>A (p.Leu309Met)
c.436C>A (p.Leu146Met)
c.345+9610C>A (n.345+9610C>A)
10g.97611600C=CA1930507080HOGA1c.925C= (p.Leu309=)
c.436C= (p.Leu146=)
c.345+9610C= (n.345+9610C=)
10g.97611600C>GCA377983642HOGA1c.925C>G (p.Leu309Val)
c.436C>G (p.Leu146Val)
c.345+9610C>G (n.345+9610C>G)
10g.97611600C>TCA5634310HOGA1c.925C>T (p.Leu309=)
c.436C>T (p.Leu146=)
c.345+9610C>T (n.345+9610C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611601T>ACA377983646HOGA1c.926T>A (p.Leu309Gln)
c.437T>A (p.Leu146Gln)
c.345+9611T>A (n.345+9611T>A)
10g.97611601T>CCA5634311HOGA1c.926T>C (p.Leu309Pro)
c.437T>C (p.Leu146Pro)
c.345+9611T>C (n.345+9611T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611601T>GCA377983648HOGA1c.926T>G (p.Leu309Arg)
c.437T>G (p.Leu146Arg)
c.345+9611T>G (n.345+9611T>G)
10g.97611601T=CA1930507083HOGA1c.926T= (p.Leu309=)
c.437T= (p.Leu146=)
c.345+9611T= (n.345+9611T=)
10g.97611602G>ACA471092793HOGA1c.927G>A (p.Leu309=)
c.438G>A (p.Leu146=)
c.345+9612G>A (n.345+9612G>A)
 gnomAD v4
10g.97611602G>CCA471092794HOGA1c.927G>C (p.Leu309=)
c.438G>C (p.Leu146=)
c.345+9612G>C (n.345+9612G>C)
10g.97611602G>TCA471092795HOGA1c.927G>T (p.Leu309=)
c.438G>T (p.Leu146=)
c.345+9612G>T (n.345+9612G>T)
10g.97611603A>CCA377983652HOGA1c.928A>C (p.Ser310Arg)
c.439A>C (p.Ser147Arg)
c.345+9613A>C (n.345+9613A>C)
10g.97611603A>GCA377983655HOGA1c.928A>G (p.Ser310Gly)
c.439A>G (p.Ser147Gly)
c.345+9613A>G (n.345+9613A>G)
 dbSNP
10g.97611603A>TCA377983657HOGA1c.928A>T (p.Ser310Cys)
c.439A>T (p.Ser147Cys)
c.345+9613A>T (n.345+9613A>T)
10g.97611604G>ACA5634312HOGA1c.929G>A (p.Ser310Asn)
c.440G>A (p.Ser147Asn)
c.345+9614G>A (n.345+9614G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611604G>CCA377983660HOGA1c.929G>C (p.Ser310Thr)
c.440G>C (p.Ser147Thr)
c.345+9614G>C (n.345+9614G>C)
10g.97611604G=CA1930507086HOGA1c.929G= (p.Ser310=)
c.440G= (p.Ser147=)
c.345+9614G= (n.345+9614G=)
10g.97611604G>TCA377983663HOGA1c.929G>T (p.Ser310Ile)
c.440G>T (p.Ser147Ile)
c.345+9614G>T (n.345+9614G>T)
10g.97611605C>ACA377983667HOGA1c.930C>A (p.Ser310Arg)
c.441C>A (p.Ser147Arg)
c.345+9615C>A (n.345+9615C>A)
10g.97611605C=CA1930507090HOGA1c.930C= (p.Ser310=)
c.441C= (p.Ser147=)
c.345+9615C= (n.345+9615C=)
10g.97611605C>GCA5634313HOGA1c.930C>G (p.Ser310Arg)
c.441C>G (p.Ser147Arg)
c.345+9615C>G (n.345+9615C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611605C>TCA471092798HOGA1c.930C>T (p.Ser310=)
c.441C>T (p.Ser147=)
c.345+9615C>T (n.345+9615C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.97611606C>ACA377983671HOGA1c.931C>A (p.Pro311Thr)
c.442C>A (p.Pro148Thr)
c.345+9616C>A (n.345+9616C>A)
10g.97611606C=CA1930507094HOGA1c.931C= (p.Pro311=)
c.442C= (p.Pro148=)
c.345+9616C= (n.345+9616C=)
10g.97611606C>GCA377983672HOGA1c.931C>G (p.Pro311Ala)
c.442C>G (p.Pro148Ala)
c.345+9616C>G (n.345+9616C>G)
10g.97611606C>TCA5634314HOGA1c.931C>T (p.Pro311Ser)
c.442C>T (p.Pro148Ser)
c.345+9616C>T (n.345+9616C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611607C>ACA377983678HOGA1c.932C>A (p.Pro311His)
c.443C>A (p.Pro148His)
c.345+9617C>A (n.345+9617C>A)
10g.97611607C=CA1930507100HOGA1c.932C= (p.Pro311=)
c.443C= (p.Pro148=)
c.345+9617C= (n.345+9617C=)
10g.97611607C>GCA377983680HOGA1c.932C>G (p.Pro311Arg)
c.443C>G (p.Pro148Arg)
c.345+9617C>G (n.345+9617C>G)
10g.97611607C>TCA377983681HOGA1c.932C>T (p.Pro311Leu)
c.443C>T (p.Pro148Leu)
c.345+9617C>T (n.345+9617C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.97611608C>ACA471092799HOGA1c.933C>A (p.Pro311=)
c.444C>A (p.Pro148=)
c.345+9618C>A (n.345+9618C>A)
10g.97611608C=CA1930507103HOGA1c.933C= (p.Pro311=)
c.444C= (p.Pro148=)
c.345+9618C= (n.345+9618C=)
10g.97611608C>GCA471092800HOGA1c.933C>G (p.Pro311=)
c.444C>G (p.Pro148=)
c.345+9618C>G (n.345+9618C>G)
10g.97611608C>TCA5634315HOGA1c.933C>T (p.Pro311=)
c.444C>T (p.Pro148=)
c.345+9618C>T (n.345+9618C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611609G>ACA5634316HOGA1c.934G>A (p.Ala312Thr)
c.445G>A (p.Ala149Thr)
c.345+9619G>A (n.345+9619G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611609G>CCA377983687HOGA1c.934G>C (p.Ala312Pro)
c.445G>C (p.Ala149Pro)
c.345+9619G>C (n.345+9619G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.97611609G=CA1930507108HOGA1c.934G= (p.Ala312=)
c.445G= (p.Ala149=)
c.345+9619G= (n.345+9619G=)
10g.97611609G>TCA377983689HOGA1c.934G>T (p.Ala312Ser)
c.445G>T (p.Ala149Ser)
c.345+9619G>T (n.345+9619G>T)
10g.97611610C>ACA377983696HOGA1c.935C>A (p.Ala312Asp)
c.446C>A (p.Ala149Asp)
c.345+9620C>A (n.345+9620C>A)
10g.97611610C>GCA377983693HOGA1c.935C>G (p.Ala312Gly)
c.446C>G (p.Ala149Gly)
c.345+9620C>G (n.345+9620C>G)
10g.97611610C>TCA377983691HOGA1c.935C>T (p.Ala312Val)
c.446C>T (p.Ala149Val)
c.345+9620C>T (n.345+9620C>T)
 gnomAD v4
10g.97611611T>ACA471092801HOGA1c.936T>A (p.Ala312=)
c.447T>A (p.Ala149=)
c.345+9621T>A (n.345+9621T>A)
10g.97611611T>CCA471092802HOGA1c.936T>C (p.Ala312=)
c.447T>C (p.Ala149=)
c.345+9621T>C (n.345+9621T>C)
 ClinVar dbSNP gnomAD v4
10g.97611611T>GCA471092803HOGA1c.936T>G (p.Ala312=)
c.447T>G (p.Ala149=)
c.345+9621T>G (n.345+9621T>G)
10g.97611611_97611614delinsTGAGCA1930507112HOGA1c.936_939delinsTGAG (p.Ala312=)
c.447_450delinsTGAG (p.Ala149=)
c.345+9621_345+9624delinsTGAG (n.345+9621_345+9624delinsTGAG)
10g.97611612G>ACA377983705HOGA1c.937G>A (p.Glu313Lys)
c.448G>A (p.Glu150Lys)
c.345+9622G>A (n.345+9622G>A)
 dbSNP gnomAD v4
10g.97611612G>CCA377983707HOGA1c.937G>C (p.Glu313Gln)
c.448G>C (p.Glu150Gln)
c.345+9622G>C (n.345+9622G>C)
10g.97611612G=CA1930507116HOGA1c.937G= (p.Glu313=)
c.448G= (p.Glu150=)
c.345+9622G= (n.345+9622G=)
10g.97611612G>TCA377983709HOGA1c.937G>T (p.Glu313Ter)
c.448G>T (p.Glu150Ter)
c.345+9622G>T (n.345+9622G>T)
10g.97611619_97611621delCA339783HOGA1c.944_946del (p.Glu315del)
c.455_457del (p.Glu152del)
c.345+9629_345+9631del (n.345+9629_345+9631del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611613A>CCA377983718HOGA1c.938A>C (p.Glu313Ala)
c.449A>C (p.Glu150Ala)
c.345+9623A>C (n.345+9623A>C)
10g.97611613A>GCA377983720HOGA1c.938A>G (p.Glu313Gly)
c.449A>G (p.Glu150Gly)
c.345+9623A>G (n.345+9623A>G)
10g.97611613A>TCA377983722HOGA1c.938A>T (p.Glu313Val)
c.449A>T (p.Glu150Val)
c.345+9623A>T (n.345+9623A>T)
10g.97611614G>ACA471092806HOGA1c.939G>A (p.Glu313=)
c.450G>A (p.Glu150=)
c.345+9624G>A (n.345+9624G>A)
10g.97611614G>CCA377983724HOGA1c.939G>C (p.Glu313Asp)
c.450G>C (p.Glu150Asp)
c.345+9624G>C (n.345+9624G>C)
10g.97611614G>TCA377983725HOGA1c.939G>T (p.Glu313Asp)
c.450G>T (p.Glu150Asp)
c.345+9624G>T (n.345+9624G>T)
10g.97611615G>ACA377983728HOGA1c.940G>A (p.Glu314Lys)
c.451G>A (p.Glu151Lys)
c.345+9625G>A (n.345+9625G>A)
10g.97611615G>CCA5634317HOGA1c.940G>C (p.Glu314Gln)
c.451G>C (p.Glu151Gln)
c.345+9625G>C (n.345+9625G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611615G=CA1930507120HOGA1c.940G= (p.Glu314=)
c.451G= (p.Glu151=)
c.345+9625G= (n.345+9625G=)
10g.97611615G>TCA377983732HOGA1c.940G>T (p.Glu314Ter)
c.451G>T (p.Glu151Ter)
c.345+9625G>T (n.345+9625G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.97611616A=CA1930507124HOGA1c.941A= (p.Glu314=)
c.452A= (p.Glu151=)
c.345+9626A= (n.345+9626A=)
10g.97611616A>CCA377983739HOGA1c.941A>C (p.Glu314Ala)
c.452A>C (p.Glu151Ala)
c.345+9626A>C (n.345+9626A>C)
 dbSNP gnomAD v4
10g.97611616A>GCA377983737HOGA1c.941A>G (p.Glu314Gly)
c.452A>G (p.Glu151Gly)
c.345+9626A>G (n.345+9626A>G)
10g.97611616A>TCA377983735HOGA1c.941A>T (p.Glu314Val)
c.452A>T (p.Glu151Val)
c.345+9626A>T (n.345+9626A>T)
10g.97611617G>ACA5634319HOGA1c.942G>A (p.Glu314=)
c.453G>A (p.Glu151=)
c.345+9627G>A (n.345+9627G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611617G>CCA377983743HOGA1c.942G>C (p.Glu314Asp)
c.453G>C (p.Glu151Asp)
c.345+9627G>C (n.345+9627G>C)
10g.97611617G=CA1930507129HOGA1c.942G= (p.Glu314=)
c.453G= (p.Glu151=)
c.345+9627G= (n.345+9627G=)
10g.97611617G>TCA377983745HOGA1c.942G>T (p.Glu314Asp)
c.453G>T (p.Glu151Asp)
c.345+9627G>T (n.345+9627G>T)
10g.97611618dupCA912970599HOGA1c.943dup (p.Glu315GlyfsTer?)
c.454dup (p.Glu152GlyfsTer?)
c.345+9628dup (n.345+9628dup)
10g.97611618G>ACA377983750HOGA1c.943G>A (p.Glu315Lys)
c.454G>A (p.Glu152Lys)
c.345+9628G>A (n.345+9628G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.97611618G>CCA377983752HOGA1c.943G>C (p.Glu315Gln)
c.454G>C (p.Glu152Gln)
c.345+9628G>C (n.345+9628G>C)
 gnomAD v4
10g.97611618G=CA1930507135HOGA1c.943G= (p.Glu315=)
c.454G= (p.Glu152=)
c.345+9628G= (n.345+9628G=)
10g.97611618G>TCA377983754HOGA1c.943G>T (p.Glu315Ter)
c.454G>T (p.Glu152Ter)
c.345+9628G>T (n.345+9628G>T)
10g.97611618_97611629dupCA5634318HOGA1c.943_954dup (p.Arg318_Met319insGluAlaLeuArg)
c.454_465dup (p.Arg155_Met156insGluAlaLeuArg)
c.345+9628_345+9639dup (n.345+9628_345+9639dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611619A=CA1930507140HOGA1c.944A= (p.Glu315=)
c.455A= (p.Glu152=)
c.345+9629A= (n.345+9629A=)
10g.97611619A>CCA5634321HOGA1c.944A>C (p.Glu315Ala)
c.455A>C (p.Glu152Ala)
c.345+9629A>C (n.345+9629A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611619A>GCA5634320HOGA1c.944A>G (p.Glu315Gly)
c.455A>G (p.Glu152Gly)
c.345+9629A>G (n.345+9629A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611619A>TCA377983761HOGA1c.944A>T (p.Glu315Val)
c.455A>T (p.Glu152Val)
c.345+9629A>T (n.345+9629A>T)
 COSMIC
10g.97611619_97611625delCA1139532264HOGA1c.944_950del (p.Glu315GlyfsTer21)
c.455_461del (p.Glu152GlyfsTer21)
c.345+9629_345+9635del (n.345+9629_345+9635del)
10g.97611620G>ACA471092812HOGA1c.945G>A (p.Glu315=)
c.456G>A (p.Glu152=)
c.345+9630G>A (n.345+9630G>A)
 ClinVar dbSNP
10g.97611620G>CCA377983764HOGA1c.945G>C (p.Glu315Asp)
c.456G>C (p.Glu152Asp)
c.345+9630G>C (n.345+9630G>C)
 gnomAD v4
10g.97611620G>TCA377983766HOGA1c.945G>T (p.Glu315Asp)
c.456G>T (p.Glu152Asp)
c.345+9630G>T (n.345+9630G>T)
10g.97611621G>ACA377983769HOGA1c.946G>A (p.Ala316Thr)
c.457G>A (p.Ala153Thr)
c.345+9631G>A (n.345+9631G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611621G>CCA377983773HOGA1c.946G>C (p.Ala316Pro)
c.457G>C (p.Ala153Pro)
c.345+9631G>C (n.345+9631G>C)
10g.97611621G=CA1930507144HOGA1c.946G= (p.Ala316=)
c.457G= (p.Ala153=)
c.345+9631G= (n.345+9631G=)
10g.97611621G>TCA377983771HOGA1c.946G>T (p.Ala316Ser)
c.457G>T (p.Ala153Ser)
c.345+9631G>T (n.345+9631G>T)
10g.97611622C>ACA377983776HOGA1c.947C>A (p.Ala316Glu)
c.458C>A (p.Ala153Glu)
c.345+9632C>A (n.345+9632C>A)
 dbSNP gnomAD v2
10g.97611622C=CA1930507147HOGA1c.947C= (p.Ala316=)
c.458C= (p.Ala153=)
c.345+9632C= (n.345+9632C=)
10g.97611622C>GCA377983780HOGA1c.947C>G (p.Ala316Gly)
c.458C>G (p.Ala153Gly)
c.345+9632C>G (n.345+9632C>G)
10g.97611622C>TCA377983778HOGA1c.947C>T (p.Ala316Val)
c.458C>T (p.Ala153Val)
c.345+9632C>T (n.345+9632C>T)
10g.97611623A=CA1930507149HOGA1c.948A= (p.Ala316=)
c.459A= (p.Ala153=)
c.345+9633A= (n.345+9633A=)
10g.97611623A>CCA471092814HOGA1c.948A>C (p.Ala316=)
c.459A>C (p.Ala153=)
c.345+9633A>C (n.345+9633A>C)
10g.97611623A>GCA471092815HOGA1c.948A>G (p.Ala316=)
c.459A>G (p.Ala153=)
c.345+9633A>G (n.345+9633A>G)
10g.97611623A>TCA471092816HOGA1c.948A>T (p.Ala316=)
c.459A>T (p.Ala153=)
c.345+9633A>T (n.345+9633A>T)
10g.97611623_97611624insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAGCA595410115HOGA1c.948_949insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG (p.Leu317LysfsTer7)
c.459_460insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG (p.Leu154LysfsTer7)
c.345+9633_345+9634insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG (n.345+9633_345+9634insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG)
 gnomAD v2
10g.97611624C>ACA377983788HOGA1c.949C>A (p.Leu317Met)
c.460C>A (p.Leu154Met)
c.345+9634C>A (n.345+9634C>A)
10g.97611624C>GCA377983785HOGA1c.949C>G (p.Leu317Val)
c.460C>G (p.Leu154Val)
c.345+9634C>G (n.345+9634C>G)
10g.97611624C>TCA471092818HOGA1c.949C>T (p.Leu317=)
c.460C>T (p.Leu154=)
c.345+9634C>T (n.345+9634C>T)
10g.97611624_97611631dupCA5634322HOGA1c.949_956dup (p.Met319IlefsTer22)
c.460_467dup (p.Met156IlefsTer22)
c.345+9634_345+9641dup (n.345+9634_345+9641dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611625T>ACA377983792HOGA1c.950T>A (p.Leu317Gln)
c.461T>A (p.Leu154Gln)
c.345+9635T>A (n.345+9635T>A)
10g.97611625T>CCA377983796HOGA1c.950T>C (p.Leu317Pro)
c.461T>C (p.Leu154Pro)
c.345+9635T>C (n.345+9635T>C)
 dbSNP gnomAD v2 gnomAD v4
10g.97611625T>GCA377983793HOGA1c.950T>G (p.Leu317Arg)
c.461T>G (p.Leu154Arg)
c.345+9635T>G (n.345+9635T>G)
10g.97611625T=CA1930507152HOGA1c.950T= (p.Leu317=)
c.461T= (p.Leu154=)
c.345+9635T= (n.345+9635T=)
10g.97611626G>ACA471092821HOGA1c.951G>A (p.Leu317=)
c.462G>A (p.Leu154=)
c.345+9636G>A (n.345+9636G>A)
 gnomAD v4
10g.97611626G>CCA471092822HOGA1c.951G>C (p.Leu317=)
c.462G>C (p.Leu154=)
c.345+9636G>C (n.345+9636G>C)
10g.97611626G>TCA471092823HOGA1c.951G>T (p.Leu317=)
c.462G>T (p.Leu154=)
c.345+9636G>T (n.345+9636G>T)
10g.97611627C>ACA377983797HOGA1c.952C>A (p.Arg318Ser)
c.463C>A (p.Arg155Ser)
c.345+9637C>A (n.345+9637C>A)
 gnomAD v4
10g.97611627C=CA1930507155HOGA1c.952C= (p.Arg318=)
c.463C= (p.Arg155=)
c.345+9637C= (n.345+9637C=)
10g.97611627C>GCA377983800HOGA1c.952C>G (p.Arg318Gly)
c.463C>G (p.Arg155Gly)
c.345+9637C>G (n.345+9637C>G)
10g.97611627C>TCA5634323HOGA1c.952C>T (p.Arg318Cys)
c.463C>T (p.Arg155Cys)
c.345+9637C>T (n.345+9637C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.97611628G>ACA5634324HOGA1c.953G>A (p.Arg318His)
c.464G>A (p.Arg155His)
c.345+9638G>A (n.345+9638G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611628G>CCA377983804HOGA1c.953G>C (p.Arg318Pro)
c.464G>C (p.Arg155Pro)
c.345+9638G>C (n.345+9638G>C)
10g.97611628G=CA1930507162HOGA1c.953G= (p.Arg318=)
c.464G= (p.Arg155=)
c.345+9638G= (n.345+9638G=)
10g.97611628G>TCA377983806HOGA1c.953G>T (p.Arg318Leu)
c.464G>T (p.Arg155Leu)
c.345+9638G>T (n.345+9638G>T)
 dbSNP gnomAD v2 gnomAD v4
10g.97611629C>ACA471092827HOGA1c.954C>A (p.Arg318=)
c.465C>A (p.Arg155=)
c.345+9639C>A (n.345+9639C>A)
10g.97611629C>GCA471092826HOGA1c.954C>G (p.Arg318=)
c.465C>G (p.Arg155=)
c.345+9639C>G (n.345+9639C>G)
10g.97611629C>TCA471092825HOGA1c.954C>T (p.Arg318=)
c.465C>T (p.Arg155=)
c.345+9639C>T (n.345+9639C>T)
10g.97611630A=CA1930507166HOGA1c.955A= (p.Met319=)
c.466A= (p.Met156=)
c.345+9640A= (n.345+9640A=)
10g.97611630A>CCA377983808HOGA1c.955A>C (p.Met319Leu)
c.466A>C (p.Met156Leu)
c.345+9640A>C (n.345+9640A>C)
10g.97611630A>GCA377983810HOGA1c.955A>G (p.Met319Val)
c.466A>G (p.Met156Val)
c.345+9640A>G (n.345+9640A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611630A>TCA377983812HOGA1c.955A>T (p.Met319Leu)
c.466A>T (p.Met156Leu)
c.345+9640A>T (n.345+9640A>T)
 dbSNP
10g.97611631T>ACA377983815HOGA1c.956T>A (p.Met319Lys)
c.467T>A (p.Met156Lys)
c.345+9641T>A (n.345+9641T>A)
10g.97611631T>CCA377983817HOGA1c.956T>C (p.Met319Thr)
c.467T>C (p.Met156Thr)
c.345+9641T>C (n.345+9641T>C)
10g.97611631T>GCA377983819HOGA1c.956T>G (p.Met319Arg)
c.467T>G (p.Met156Arg)
c.345+9641T>G (n.345+9641T>G)
10g.97611632G>ACA377983822HOGA1c.957G>A (p.Met319Ile)
c.468G>A (p.Met156Ile)
c.345+9642G>A (n.345+9642G>A)
10g.97611632G>CCA377983824HOGA1c.957G>C (p.Met319Ile)
c.468G>C (p.Met156Ile)
c.345+9642G>C (n.345+9642G>C)
10g.97611632G>TCA377983826HOGA1c.957G>T (p.Met319Ile)
c.468G>T (p.Met156Ile)
c.345+9642G>T (n.345+9642G>T)
10g.97611633G>ACA377983831HOGA1c.958G>A (p.Asp320Asn)
c.469G>A (p.Asp157Asn)
c.345+9643G>A (n.345+9643G>A)
10g.97611633G>CCA377983828HOGA1c.958G>C (p.Asp320His)
c.469G>C (p.Asp157His)
c.345+9643G>C (n.345+9643G>C)
10g.97611633G=CA1930507169HOGA1c.958G= (p.Asp320=)
c.469G= (p.Asp157=)
c.345+9643G= (n.345+9643G=)
10g.97611633G>TCA212683564HOGA1c.958G>T (p.Asp320Tyr)
c.469G>T (p.Asp157Tyr)
c.345+9643G>T (n.345+9643G>T)
 dbSNP
10g.97611634A>CCA377983834HOGA1c.959A>C (p.Asp320Ala)
c.470A>C (p.Asp157Ala)
c.345+9644A>C (n.345+9644A>C)
10g.97611634A>GCA377983836HOGA1c.959A>G (p.Asp320Gly)
c.470A>G (p.Asp157Gly)
c.345+9644A>G (n.345+9644A>G)
10g.97611634A>TCA377983838HOGA1c.959A>T (p.Asp320Val)
c.470A>T (p.Asp157Val)
c.345+9644A>T (n.345+9644A>T)
10g.97611635T>ACA377983841HOGA1c.960T>A (p.Asp320Glu)
c.471T>A (p.Asp157Glu)
c.345+9645T>A (n.345+9645T>A)
10g.97611635T>CCA471092833HOGA1c.960T>C (p.Asp320=)
c.471T>C (p.Asp157=)
c.345+9645T>C (n.345+9645T>C)
10g.97611635T>GCA377983843HOGA1c.960T>G (p.Asp320Glu)
c.471T>G (p.Asp157Glu)
c.345+9645T>G (n.345+9645T>G)
10g.97611636T>ACA377983845HOGA1c.961T>A (p.Phe321Ile)
c.472T>A (p.Phe158Ile)
c.345+9646T>A (n.345+9646T>A)
10g.97611636T>CCA377983847HOGA1c.961T>C (p.Phe321Leu)
c.472T>C (p.Phe158Leu)
c.345+9646T>C (n.345+9646T>C)
10g.97611636T>GCA377983849HOGA1c.961T>G (p.Phe321Val)
c.472T>G (p.Phe158Val)
c.345+9646T>G (n.345+9646T>G)
10g.97611637T>ACA377983852HOGA1c.962T>A (p.Phe321Tyr)
c.473T>A (p.Phe158Tyr)
c.345+9647T>A (n.345+9647T>A)
10g.97611637T>CCA377983854HOGA1c.962T>C (p.Phe321Ser)
c.473T>C (p.Phe158Ser)
c.345+9647T>C (n.345+9647T>C)
10g.97611637T>GCA377983856HOGA1c.962T>G (p.Phe321Cys)
c.473T>G (p.Phe158Cys)
c.345+9647T>G (n.345+9647T>G)
10g.97611638C>ACA377983858HOGA1c.963C>A (p.Phe321Leu)
c.474C>A (p.Phe158Leu)
c.345+9648C>A (n.345+9648C>A)
10g.97611638C>GCA377983860HOGA1c.963C>G (p.Phe321Leu)
c.474C>G (p.Phe158Leu)
c.345+9648C>G (n.345+9648C>G)
10g.97611638C>TCA471092834HOGA1c.963C>T (p.Phe321=)
c.474C>T (p.Phe158=)
c.345+9648C>T (n.345+9648C>T)
10g.97611639A>CCA377983863HOGA1c.964A>C (p.Thr322Pro)
c.475A>C (p.Thr159Pro)
c.345+9649A>C (n.345+9649A>C)
10g.97611639A>GCA377983864HOGA1c.964A>G (p.Thr322Ala)
c.475A>G (p.Thr159Ala)
c.345+9649A>G (n.345+9649A>G)
10g.97611639A>TCA377983867HOGA1c.964A>T (p.Thr322Ser)
c.475A>T (p.Thr159Ser)
c.345+9649A>T (n.345+9649A>T)
10g.97611640C>ACA377983869HOGA1c.965C>A (p.Thr322Asn)
c.476C>A (p.Thr159Asn)
c.345+9650C>A (n.345+9650C>A)
10g.97611640C=CA1930507171HOGA1c.965C= (p.Thr322=)
c.476C= (p.Thr159=)
c.345+9650C= (n.345+9650C=)
10g.97611640C>GCA377983871HOGA1c.965C>G (p.Thr322Ser)
c.476C>G (p.Thr159Ser)
c.345+9650C>G (n.345+9650C>G)
10g.97611640C>TCA377983873HOGA1c.965C>T (p.Thr322Ile)
c.476C>T (p.Thr159Ile)
c.345+9650C>T (n.345+9650C>T)
 dbSNP
10g.97611641C>ACA471092835HOGA1c.966C>A (p.Thr322=)
c.477C>A (p.Thr159=)
c.345+9651C>A (n.345+9651C>A)
10g.97611641C>GCA471092836HOGA1c.966C>G (p.Thr322=)
c.477C>G (p.Thr159=)
c.345+9651C>G (n.345+9651C>G)
10g.97611641C>TCA471092837HOGA1c.966C>T (p.Thr322=)
c.477C>T (p.Thr159=)
c.345+9651C>T (n.345+9651C>T)
10g.97611642A=CA1930507173HOGA1c.967A= (p.Ser323=)
c.478A= (p.Ser160=)
c.345+9652A= (n.345+9652A=)
10g.97611642A>CCA377983876HOGA1c.967A>C (p.Ser323Arg)
c.478A>C (p.Ser160Arg)
c.345+9652A>C (n.345+9652A>C)
 dbSNP
10g.97611642A>GCA377983878HOGA1c.967A>G (p.Ser323Gly)
c.478A>G (p.Ser160Gly)
c.345+9652A>G (n.345+9652A>G)
10g.97611642A>TCA377983880HOGA1c.967A>T (p.Ser323Cys)
c.478A>T (p.Ser160Cys)
c.345+9652A>T (n.345+9652A>T)
10g.97611643G>ACA377983883HOGA1c.968G>A (p.Ser323Asn)
c.479G>A (p.Ser160Asn)
c.345+9653G>A (n.345+9653G>A)
10g.97611643G>CCA377983885HOGA1c.968G>C (p.Ser323Thr)
c.479G>C (p.Ser160Thr)
c.345+9653G>C (n.345+9653G>C)
10g.97611643G>TCA377983887HOGA1c.968G>T (p.Ser323Ile)
c.479G>T (p.Ser160Ile)
c.345+9653G>T (n.345+9653G>T)
10g.97611644C>ACA377983891HOGA1c.969C>A (p.Ser323Arg)
c.480C>A (p.Ser160Arg)
c.345+9654C>A (n.345+9654C>A)
10g.97611644C=CA1930507175HOGA1c.969C= (p.Ser323=)
c.480C= (p.Ser160=)
c.345+9654C= (n.345+9654C=)
10g.97611644C>GCA377983890HOGA1c.969C>G (p.Ser323Arg)
c.480C>G (p.Ser160Arg)
c.345+9654C>G (n.345+9654C>G)
10g.97611644C>TCA471092838HOGA1c.969C>T (p.Ser323=)
c.480C>T (p.Ser160=)
c.345+9654C>T (n.345+9654C>T)
 dbSNP
10g.97611645A>CCA377983892HOGA1c.970A>C (p.Asn324His)
c.481A>C (p.Asn161His)
c.345+9655A>C (n.345+9655A>C)
10g.97611645A>GCA377983893HOGA1c.970A>G (p.Asn324Asp)
c.481A>G (p.Asn161Asp)
c.345+9655A>G (n.345+9655A>G)
10g.97611645A>TCA377983894HOGA1c.970A>T (p.Asn324Tyr)
c.481A>T (p.Asn161Tyr)
c.345+9655A>T (n.345+9655A>T)
10g.97611646A>CCA377983895HOGA1c.971A>C (p.Asn324Thr)
c.482A>C (p.Asn161Thr)
c.345+9656A>C (n.345+9656A>C)
10g.97611646A>GCA377983896HOGA1c.971A>G (p.Asn324Ser)
c.482A>G (p.Asn161Ser)
c.345+9656A>G (n.345+9656A>G)
10g.97611646A>TCA377983897HOGA1c.971A>T (p.Asn324Ile)
c.482A>T (p.Asn161Ile)
c.345+9656A>T (n.345+9656A>T)
10g.97611647C>ACA377983898HOGA1c.972C>A (p.Asn324Lys)
c.483C>A (p.Asn161Lys)
c.345+9657C>A (n.345+9657C>A)
10g.97611647C=CA1930507180HOGA1c.972C= (p.Asn324=)
c.483C= (p.Asn161=)
c.345+9657C= (n.345+9657C=)
10g.97611647C>GCA377983899HOGA1c.972C>G (p.Asn324Lys)
c.483C>G (p.Asn161Lys)
c.345+9657C>G (n.345+9657C>G)
10g.97611647C>TCA5634325HOGA1c.972C>T (p.Asn324=)
c.483C>T (p.Asn161=)
c.345+9657C>T (n.345+9657C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611648G>ACA203979HOGA1c.973G>A (p.Gly325Ser)
c.484G>A (p.Gly162Ser)
c.345+9658G>A (n.345+9658G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611648G>CCA377983900HOGA1c.973G>C (p.Gly325Arg)
c.484G>C (p.Gly162Arg)
c.345+9658G>C (n.345+9658G>C)
10g.97611648G=CA1930507184HOGA1c.973G= (p.Gly325=)
c.484G= (p.Gly162=)
c.345+9658G= (n.345+9658G=)
10g.97611648G>TCA377983901HOGA1c.973G>T (p.Gly325Cys)
c.484G>T (p.Gly162Cys)
c.345+9658G>T (n.345+9658G>T)
10g.97611649delCA2789141882HOGA1c.974del (p.Gly325AlafsTer13)
c.485del (p.Gly162AlafsTer13)
c.345+9659del (n.345+9659del)
10g.97611652_97611655dupCA2610415768HOGA1c.977_980dup (p.Ter328AlaextTer24)
c.488_491dup (p.Ter165AlaextTer24)
c.345+9662_345+9665dup (n.345+9662_345+9665dup)
 gnomAD v4
10g.97611649G>ACA377983904HOGA1c.974G>A (p.Gly325Asp)
c.485G>A (p.Gly162Asp)
c.345+9659G>A (n.345+9659G>A)
 ClinVar gnomAD v4
10g.97611649G>CCA377983903HOGA1c.974G>C (p.Gly325Ala)
c.485G>C (p.Gly162Ala)
c.345+9659G>C (n.345+9659G>C)
10g.97611649G>TCA377983902HOGA1c.974G>T (p.Gly325Val)
c.485G>T (p.Gly162Val)
c.345+9659G>T (n.345+9659G>T)
10g.97611650C>ACA471092839HOGA1c.975C>A (p.Gly325=)
c.486C>A (p.Gly162=)
c.345+9660C>A (n.345+9660C>A)
10g.97611650C>GCA471092840HOGA1c.975C>G (p.Gly325=)
c.486C>G (p.Gly162=)
c.345+9660C>G (n.345+9660C>G)
10g.97611650C>TCA471092841HOGA1c.975C>T (p.Gly325=)
c.486C>T (p.Gly162=)
c.345+9660C>T (n.345+9660C>T)
10g.97611650_97611651delinsCTCA1930507188HOGA1c.975_976delinsCT (p.Gly325=)
c.486_487delinsCT (p.Gly162=)
c.345+9660_345+9661delinsCT (n.345+9660_345+9661delinsCT)
10g.97611651delCA1930507192HOGA1c.976del (p.Trp326GlyfsTer12)
c.487del (p.Trp163GlyfsTer12)
c.345+9661del (n.345+9661del)
 dbSNP
10g.97611651T>ACA377983905HOGA1c.976T>A (p.Trp326Arg)
c.487T>A (p.Trp163Arg)
c.345+9661T>A (n.345+9661T>A)
10g.97611651T>CCA377983906HOGA1c.976T>C (p.Trp326Arg)
c.487T>C (p.Trp163Arg)
c.345+9661T>C (n.345+9661T>C)
 gnomAD v4
10g.97611651T>GCA5634326HOGA1c.976T>G (p.Trp326Gly)
c.487T>G (p.Trp163Gly)
c.345+9661T>G (n.345+9661T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.97611651T=CA1930507190HOGA1c.976T= (p.Trp326=)
c.487T= (p.Trp163=)
c.345+9661T= (n.345+9661T=)
10g.97611652G>ACA5634327HOGA1c.977G>A (p.Trp326Ter)
c.488G>A (p.Trp163Ter)
c.345+9662G>A (n.345+9662G>A)
 dbSNP ExAC
10g.97611652G>CCA377983907HOGA1c.977G>C (p.Trp326Ser)
c.488G>C (p.Trp163Ser)
c.345+9662G>C (n.345+9662G>C)
10g.97611652G=CA1930507195HOGA1c.977G= (p.Trp326=)
c.488G= (p.Trp163=)
c.345+9662G= (n.345+9662G=)
10g.97611652G>TCA377983908HOGA1c.977G>T (p.Trp326Leu)
c.488G>T (p.Trp163Leu)
c.345+9662G>T (n.345+9662G>T)
10g.97611653G>ACA377983909HOGA1c.978G>A (p.Trp326Ter)
c.489G>A (p.Trp163Ter)
c.345+9663G>A (n.345+9663G>A)
 gnomAD v4
10g.97611653G>CCA377983910HOGA1c.978G>C (p.Trp326Cys)
c.489G>C (p.Trp163Cys)
c.345+9663G>C (n.345+9663G>C)
 gnomAD v4
10g.97611653G>TCA377983912HOGA1c.978G>T (p.Trp326Cys)
c.489G>T (p.Trp163Cys)
c.345+9663G>T (n.345+9663G>T)
10g.97611654C>ACA377983915HOGA1c.979C>A (p.Leu327Ile)
c.490C>A (p.Leu164Ile)
c.345+9664C>A (n.345+9664C>A)
10g.97611654C>GCA377983916HOGA1c.979C>G (p.Leu327Val)
c.490C>G (p.Leu164Val)
c.345+9664C>G (n.345+9664C>G)
10g.97611654C>TCA377983918HOGA1c.979C>T (p.Leu327Phe)
c.490C>T (p.Leu164Phe)
c.345+9664C>T (n.345+9664C>T)
10g.97611655T>ACA377983921HOGA1c.980T>A (p.Leu327His)
c.491T>A (p.Leu164His)
c.345+9665T>A (n.345+9665T>A)
10g.97611655T>CCA377983922HOGA1c.980T>C (p.Leu327Pro)
c.491T>C (p.Leu164Pro)
c.345+9665T>C (n.345+9665T>C)
 gnomAD v4
10g.97611655T>GCA377983924HOGA1c.980T>G (p.Leu327Arg)
c.491T>G (p.Leu164Arg)
c.345+9665T>G (n.345+9665T>G)
10g.97611656C>ACA471092848HOGA1c.981C>A (p.Leu327=)
c.492C>A (p.Leu164=)
c.345+9666C>A (n.345+9666C>A)
 gnomAD v4
10g.97611656C>GCA471092847HOGA1c.981C>G (p.Leu327=)
c.492C>G (p.Leu164=)
c.345+9666C>G (n.345+9666C>G)
10g.97611656C>TCA471092846HOGA1c.981C>T (p.Leu327=)
c.492C>T (p.Leu164=)
c.345+9666C>T (n.345+9666C>T)
 ClinVar
10g.97611657T>ACA377983930HOGA1c.982T>A (p.Ter328Arg)
c.493T>A (p.Ter165Arg)
c.345+9667T>A (n.345+9667T>A)
10g.97611657T>CCA377983927HOGA1c.982T>C (p.Ter328Arg)
c.493T>C (p.Ter165Arg)
c.345+9667T>C (n.345+9667T>C)
10g.97611657T>GCA377983929HOGA1c.982T>G (p.Ter328Gly)
c.493T>G (p.Ter165Gly)
c.345+9667T>G (n.345+9667T>G)
10g.97611658G>ACA471092850HOGA1c.983G>A (p.Ter328=)
c.494G>A (p.Ter165=)
c.345+9668G>A (n.345+9668G>A)
10g.97611658G>CCA377983933HOGA1c.983G>C (p.Ter328Ser)
c.494G>C (p.Ter165Ser)
c.345+9668G>C (n.345+9668G>C)
10g.97611658G>TCA377983935HOGA1c.983G>T (p.Ter328Leu)
c.494G>T (p.Ter165Leu)
c.345+9668G>T (n.345+9668G>T)
10g.97611659A=CA1930507242HOGA1c.984A= (p.Ter328=)
c.495A= (p.Ter165=)
c.345+9669A= (n.345+9669A=)
10g.97611659A>CCA377983938HOGA1c.984A>C (p.Ter328Cys)
c.495A>C (p.Ter165Cys)
c.345+9669A>C (n.345+9669A>C)
10g.97611659A>GCA377983939HOGA1c.984A>G (p.Ter328Trp)
c.495A>G (p.Ter165Trp)
c.345+9669A>G (n.345+9669A>G)
10g.97611659A>TCA377983942HOGA1c.984A>T (p.Ter328Cys)
c.495A>T (p.Ter165Cys)
c.345+9669A>T (n.345+9669A>T)
 dbSNP
10g.97611661G>TCA2610415805HOGA1c.*2G>T (n.*2G>T)
c.345+9671G>T (n.345+9671G>T)
 gnomAD v4
10g.97611663C=CA1930507244HOGA1c.*4C= (n.*4C=)
c.345+9673C= (n.345+9673C=)
10g.97611663C>TCA5634328HOGA1c.*4C>T (n.*4C>T)
c.345+9673C>T (n.345+9673C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611666G>ACA595410135HOGA1c.*7G>A (n.*7G>A)
c.345+9676G>A (n.345+9676G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.97611666G=CA1930507246HOGA1c.*7G= (n.*7G=)
c.345+9676G= (n.345+9676G=)
10g.97611667C>ACA595410136HOGA1c.*8C>A (n.*8C>A)
c.345+9677C>A (n.345+9677C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.97611667C=CA1930507247HOGA1c.*8C= (n.*8C=)
c.345+9677C= (n.345+9677C=)
10g.97611667C>TCA2610415810HOGA1c.*8C>T (n.*8C>T)
c.345+9677C>T (n.345+9677C>T)
 gnomAD v4
10g.97611670G>CCA5634329HOGA1c.*11G>C (n.*11G>C)
c.345+9680G>C (n.345+9680G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611670G=CA1930507249HOGA1c.*11G= (n.*11G=)
c.345+9680G= (n.345+9680G=)
10g.97611670G>TCA2610415814HOGA1c.*11G>T (n.*11G>T)
c.345+9680G>T (n.345+9680G>T)
 gnomAD v4
10g.97611671G>ACA2610415817HOGA1c.*12G>A (n.*12G>A)
c.345+9681G>A (n.345+9681G>A)
 gnomAD v4
10g.97611672T>GCA1930507252HOGA1c.*13T>G (n.*13T>G)
c.345+9682T>G (n.345+9682T>G)
 dbSNP
10g.97611672T=CA1930507251HOGA1c.*13T= (n.*13T=)
c.345+9682T= (n.345+9682T=)
10g.97611674C>TCA2574692861HOGA1c.*15C>T (n.*15C>T)
c.345+9684C>T (n.345+9684C>T)
10g.97611675A=CA1930507253HOGA1c.*16A= (n.*16A=)
c.345+9685A= (n.345+9685A=)
10g.97611675A>GCA5634330HOGA1c.*16A>G (n.*16A>G)
c.345+9685A>G (n.345+9685A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611676T>CCA2610415819HOGA1c.*17T>C (n.*17T>C)
c.345+9686T>C (n.345+9686T>C)
 gnomAD v4
10g.97611677G=CA1930507254HOGA1c.*18G= (n.*18G=)
c.345+9687G= (n.345+9687G=)
10g.97611677G>TCA1930507255HOGA1c.*18G>T (n.*18G>T)
c.345+9687G>T (n.345+9687G>T)
 dbSNP gnomAD v4
10g.97611678G>ACA2610415821HOGA1c.*19G>A (n.*19G>A)
c.345+9688G>A (n.345+9688G>A)
 gnomAD v4
10g.97611678G>CCA595410141HOGA1c.*19G>C (n.*19G>C)
c.345+9688G>C (n.345+9688G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.97611678G=CA1930507257HOGA1c.*19G= (n.*19G=)
c.345+9688G= (n.345+9688G=)
10g.97611678G>TCA5634331HOGA1c.*19G>T (n.*19G>T)
c.345+9688G>T (n.345+9688G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611679C>ACA2610415825HOGA1c.*20C>A (n.*20C>A)
c.345+9689C>A (n.345+9689C>A)
 gnomAD v4
10g.97611679C=CA1930507259HOGA1c.*20C= (n.*20C=)
c.345+9689C= (n.345+9689C=)
10g.97611679C>TCA5634332HOGA1c.*20C>T (n.*20C>T)
c.345+9689C>T (n.345+9689C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.97611680T>CCA2610415829HOGA1c.*21T>C (n.*21T>C)
c.345+9690T>C (n.345+9690T>C)
 gnomAD v4
10g.97611681G>TCA2610415830HOGA1c.*22G>T (n.*22G>T)
c.345+9691G>T (n.345+9691G>T)
 gnomAD v4
10g.97611682G>ACA2610415833HOGA1c.*23G>A (n.*23G>A)
c.345+9692G>A (n.345+9692G>A)
 gnomAD v4
10g.97611682G>TCA2610415835HOGA1c.*23G>T (n.*23G>T)
c.345+9692G>T (n.345+9692G>T)
 gnomAD v4
10g.97611682_97611683delinsGCCA1930507262HOGA1c.*23_*24delinsGC (n.*23_*24delinsGC)
c.345+9692_345+9693delinsGC (n.345+9692_345+9693delinsGC)
10g.97611683C>ACA931587951HOGA1c.*24C>A (n.*24C>A)
c.345+9693C>A (n.345+9693C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.97611683C=CA1930507266HOGA1c.*24C= (n.*24C=)
c.345+9693C= (n.345+9693C=)
10g.97611683C>GCA595410145HOGA1c.*24C>G (n.*24C>G)
c.345+9693C>G (n.345+9693C>G)
 dbSNP gnomAD v2 gnomAD v4
10g.97611683C>TCA2610415840HOGA1c.*24C>T (n.*24C>T)
c.345+9693C>T (n.345+9693C>T)
 gnomAD v4
10g.97611684delCA931587932HOGA1c.*25del (n.*25del)
c.345+9694del (n.345+9694del)
 dbSNP gnomAD v3 gnomAD v4
10g.97611685T>CCA931587957HOGA1c.*26T>C (n.*26T>C)
c.345+9695T>C (n.345+9695T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.97611685T>GCA670426117HOGA1c.*26T>G (n.*26T>G)
c.345+9695T>G (n.345+9695T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.97611685T=CA1930507268HOGA1c.*26T= (n.*26T=)
c.345+9695T= (n.345+9695T=)

Number of alleles fetched