Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.28141435C>ACA489234631HERC2c.12012G>T (p.Gly4004=)
c.3723G>T (p.Gly1241=)
c.11898G>T (p.Gly3966=)
c.11997G>T (p.Gly3999=)
c.11754G>T (p.Gly3918=)
c.11529G>T (p.Gly3843=)
c.9528G>T (p.Gly3176=)
c.8757G>T (p.Gly2919=)
c.6129G>T (p.Gly2043=)
c.5178G>T (p.Gly1726=)
15g.28141435C=CA2166479813HERC2c.12012G= (p.Gly4004=)
c.3723G= (p.Gly1241=)
c.11898G= (p.Gly3966=)
c.11997G= (p.Gly3999=)
c.11754G= (p.Gly3918=)
c.11529G= (p.Gly3843=)
c.9528G= (p.Gly3176=)
c.8757G= (p.Gly2919=)
c.6129G= (p.Gly2043=)
c.5178G= (p.Gly1726=)
15g.28141435C>GCA489234632HERC2c.12012G>C (p.Gly4004=)
c.3723G>C (p.Gly1241=)
c.11898G>C (p.Gly3966=)
c.11997G>C (p.Gly3999=)
c.11754G>C (p.Gly3918=)
c.11529G>C (p.Gly3843=)
c.9528G>C (p.Gly3176=)
c.8757G>C (p.Gly2919=)
c.6129G>C (p.Gly2043=)
c.5178G>C (p.Gly1726=)
15g.28141435C>TCA489234633HERC2c.12012G>A (p.Gly4004=)
c.3723G>A (p.Gly1241=)
c.11898G>A (p.Gly3966=)
c.11997G>A (p.Gly3999=)
c.11754G>A (p.Gly3918=)
c.11529G>A (p.Gly3843=)
c.9528G>A (p.Gly3176=)
c.8757G>A (p.Gly2919=)
c.6129G>A (p.Gly2043=)
c.5178G>A (p.Gly1726=)
 dbSNP
15g.28141436C>ACA391380815HERC2c.12011G>T (p.Gly4004Val)
c.3722G>T (p.Gly1241Val)
c.11897G>T (p.Gly3966Val)
c.11996G>T (p.Gly3999Val)
c.11753G>T (p.Gly3918Val)
c.11528G>T (p.Gly3843Val)
c.9527G>T (p.Gly3176Val)
c.8756G>T (p.Gly2919Val)
c.6128G>T (p.Gly2043Val)
c.5177G>T (p.Gly1726Val)
15g.28141436C>GCA391380812HERC2c.12011G>C (p.Gly4004Ala)
c.3722G>C (p.Gly1241Ala)
c.11897G>C (p.Gly3966Ala)
c.11996G>C (p.Gly3999Ala)
c.11753G>C (p.Gly3918Ala)
c.11528G>C (p.Gly3843Ala)
c.9527G>C (p.Gly3176Ala)
c.8756G>C (p.Gly2919Ala)
c.6128G>C (p.Gly2043Ala)
c.5177G>C (p.Gly1726Ala)
15g.28141436C>TCA391380811HERC2c.12011G>A (p.Gly4004Glu)
c.3722G>A (p.Gly1241Glu)
c.11897G>A (p.Gly3966Glu)
c.11996G>A (p.Gly3999Glu)
c.11753G>A (p.Gly3918Glu)
c.11528G>A (p.Gly3843Glu)
c.9527G>A (p.Gly3176Glu)
c.8756G>A (p.Gly2919Glu)
c.6128G>A (p.Gly2043Glu)
c.5177G>A (p.Gly1726Glu)
15g.28141437C>ACA391380819HERC2c.12010G>T (p.Gly4004Trp)
c.3721G>T (p.Gly1241Trp)
c.11896G>T (p.Gly3966Trp)
c.11995G>T (p.Gly3999Trp)
c.11752G>T (p.Gly3918Trp)
c.11527G>T (p.Gly3843Trp)
c.9526G>T (p.Gly3176Trp)
c.8755G>T (p.Gly2919Trp)
c.6127G>T (p.Gly2043Trp)
c.5176G>T (p.Gly1726Trp)
15g.28141437C>GCA391380821HERC2c.12010G>C (p.Gly4004Arg)
c.3721G>C (p.Gly1241Arg)
c.11896G>C (p.Gly3966Arg)
c.11995G>C (p.Gly3999Arg)
c.11752G>C (p.Gly3918Arg)
c.11527G>C (p.Gly3843Arg)
c.9526G>C (p.Gly3176Arg)
c.8755G>C (p.Gly2919Arg)
c.6127G>C (p.Gly2043Arg)
c.5176G>C (p.Gly1726Arg)
15g.28141437C>TCA391380822HERC2c.12010G>A (p.Gly4004Arg)
c.3721G>A (p.Gly1241Arg)
c.11896G>A (p.Gly3966Arg)
c.11995G>A (p.Gly3999Arg)
c.11752G>A (p.Gly3918Arg)
c.11527G>A (p.Gly3843Arg)
c.9526G>A (p.Gly3176Arg)
c.8755G>A (p.Gly2919Arg)
c.6127G>A (p.Gly2043Arg)
c.5176G>A (p.Gly1726Arg)
 COSMIC COSMIC
15g.28141438A>CCA391380825HERC2c.12009T>G (p.Asp4003Glu)
c.3720T>G (p.Asp1240Glu)
c.11895T>G (p.Asp3965Glu)
c.11994T>G (p.Asp3998Glu)
c.11751T>G (p.Asp3917Glu)
c.11526T>G (p.Asp3842Glu)
c.9525T>G (p.Asp3175Glu)
c.8754T>G (p.Asp2918Glu)
c.6126T>G (p.Asp2042Glu)
c.5175T>G (p.Asp1725Glu)
15g.28141438A>GCA489234636HERC2c.12009T>C (p.Asp4003=)
c.3720T>C (p.Asp1240=)
c.11895T>C (p.Asp3965=)
c.11994T>C (p.Asp3998=)
c.11751T>C (p.Asp3917=)
c.11526T>C (p.Asp3842=)
c.9525T>C (p.Asp3175=)
c.8754T>C (p.Asp2918=)
c.6126T>C (p.Asp2042=)
c.5175T>C (p.Asp1725=)
15g.28141438A>TCA391380827HERC2c.12009T>A (p.Asp4003Glu)
c.3720T>A (p.Asp1240Glu)
c.11895T>A (p.Asp3965Glu)
c.11994T>A (p.Asp3998Glu)
c.11751T>A (p.Asp3917Glu)
c.11526T>A (p.Asp3842Glu)
c.9525T>A (p.Asp3175Glu)
c.8754T>A (p.Asp2918Glu)
c.6126T>A (p.Asp2042Glu)
c.5175T>A (p.Asp1725Glu)
15g.28141439T>ACA7440415HERC2c.12008A>T (p.Asp4003Val)
c.3719A>T (p.Asp1240Val)
c.11894A>T (p.Asp3965Val)
c.11993A>T (p.Asp3998Val)
c.11750A>T (p.Asp3917Val)
c.11525A>T (p.Asp3842Val)
c.9524A>T (p.Asp3175Val)
c.8753A>T (p.Asp2918Val)
c.6125A>T (p.Asp2042Val)
c.5174A>T (p.Asp1725Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141439T>CCA391380834HERC2c.12008A>G (p.Asp4003Gly)
c.3719A>G (p.Asp1240Gly)
c.11894A>G (p.Asp3965Gly)
c.11993A>G (p.Asp3998Gly)
c.11750A>G (p.Asp3917Gly)
c.11525A>G (p.Asp3842Gly)
c.9524A>G (p.Asp3175Gly)
c.8753A>G (p.Asp2918Gly)
c.6125A>G (p.Asp2042Gly)
c.5174A>G (p.Asp1725Gly)
15g.28141439T>GCA391380836HERC2c.12008A>C (p.Asp4003Ala)
c.3719A>C (p.Asp1240Ala)
c.11894A>C (p.Asp3965Ala)
c.11993A>C (p.Asp3998Ala)
c.11750A>C (p.Asp3917Ala)
c.11525A>C (p.Asp3842Ala)
c.9524A>C (p.Asp3175Ala)
c.8753A>C (p.Asp2918Ala)
c.6125A>C (p.Asp2042Ala)
c.5174A>C (p.Asp1725Ala)
15g.28141439T=CA2166479815HERC2c.12008A= (p.Asp4003=)
c.3719A= (p.Asp1240=)
c.11894A= (p.Asp3965=)
c.11993A= (p.Asp3998=)
c.11750A= (p.Asp3917=)
c.11525A= (p.Asp3842=)
c.9524A= (p.Asp3175=)
c.8753A= (p.Asp2918=)
c.6125A= (p.Asp2042=)
c.5174A= (p.Asp1725=)
15g.28141440C>ACA391380841HERC2c.12007G>T (p.Asp4003Tyr)
c.3718G>T (p.Asp1240Tyr)
c.11893G>T (p.Asp3965Tyr)
c.11992G>T (p.Asp3998Tyr)
c.11749G>T (p.Asp3917Tyr)
c.11524G>T (p.Asp3842Tyr)
c.9523G>T (p.Asp3175Tyr)
c.8752G>T (p.Asp2918Tyr)
c.6124G>T (p.Asp2042Tyr)
c.5173G>T (p.Asp1725Tyr)
15g.28141440C>GCA391380843HERC2c.12007G>C (p.Asp4003His)
c.3718G>C (p.Asp1240His)
c.11893G>C (p.Asp3965His)
c.11992G>C (p.Asp3998His)
c.11749G>C (p.Asp3917His)
c.11524G>C (p.Asp3842His)
c.9523G>C (p.Asp3175His)
c.8752G>C (p.Asp2918His)
c.6124G>C (p.Asp2042His)
c.5173G>C (p.Asp1725His)
15g.28141440C>TCA391380846HERC2c.12007G>A (p.Asp4003Asn)
c.3718G>A (p.Asp1240Asn)
c.11893G>A (p.Asp3965Asn)
c.11992G>A (p.Asp3998Asn)
c.11749G>A (p.Asp3917Asn)
c.11524G>A (p.Asp3842Asn)
c.9523G>A (p.Asp3175Asn)
c.8752G>A (p.Asp2918Asn)
c.6124G>A (p.Asp2042Asn)
c.5173G>A (p.Asp1725Asn)
15g.28141441A>CCA489234641HERC2c.12006T>G (p.Ala4002=)
c.3717T>G (p.Ala1239=)
c.11892T>G (p.Ala3964=)
c.11991T>G (p.Ala3997=)
c.11748T>G (p.Ala3916=)
c.11523T>G (p.Ala3841=)
c.9522T>G (p.Ala3174=)
c.8751T>G (p.Ala2917=)
c.6123T>G (p.Ala2041=)
c.5172T>G (p.Ala1724=)
15g.28141441A>GCA489234640HERC2c.12006T>C (p.Ala4002=)
c.3717T>C (p.Ala1239=)
c.11892T>C (p.Ala3964=)
c.11991T>C (p.Ala3997=)
c.11748T>C (p.Ala3916=)
c.11523T>C (p.Ala3841=)
c.9522T>C (p.Ala3174=)
c.8751T>C (p.Ala2917=)
c.6123T>C (p.Ala2041=)
c.5172T>C (p.Ala1724=)
15g.28141441A>TCA489234638HERC2c.12006T>A (p.Ala4002=)
c.3717T>A (p.Ala1239=)
c.11892T>A (p.Ala3964=)
c.11991T>A (p.Ala3997=)
c.11748T>A (p.Ala3916=)
c.11523T>A (p.Ala3841=)
c.9522T>A (p.Ala3174=)
c.8751T>A (p.Ala2917=)
c.6123T>A (p.Ala2041=)
c.5172T>A (p.Ala1724=)
15g.28141442G>ACA391380850HERC2c.12005C>T (p.Ala4002Val)
c.3716C>T (p.Ala1239Val)
c.11891C>T (p.Ala3964Val)
c.11990C>T (p.Ala3997Val)
c.11747C>T (p.Ala3916Val)
c.11522C>T (p.Ala3841Val)
c.9521C>T (p.Ala3174Val)
c.8750C>T (p.Ala2917Val)
c.6122C>T (p.Ala2041Val)
c.5171C>T (p.Ala1724Val)
15g.28141442G>CCA391380851HERC2c.12005C>G (p.Ala4002Gly)
c.3716C>G (p.Ala1239Gly)
c.11891C>G (p.Ala3964Gly)
c.11990C>G (p.Ala3997Gly)
c.11747C>G (p.Ala3916Gly)
c.11522C>G (p.Ala3841Gly)
c.9521C>G (p.Ala3174Gly)
c.8750C>G (p.Ala2917Gly)
c.6122C>G (p.Ala2041Gly)
c.5171C>G (p.Ala1724Gly)
15g.28141442G>TCA391380855HERC2c.12005C>A (p.Ala4002Asp)
c.3716C>A (p.Ala1239Asp)
c.11891C>A (p.Ala3964Asp)
c.11990C>A (p.Ala3997Asp)
c.11747C>A (p.Ala3916Asp)
c.11522C>A (p.Ala3841Asp)
c.9521C>A (p.Ala3174Asp)
c.8750C>A (p.Ala2917Asp)
c.6122C>A (p.Ala2041Asp)
c.5171C>A (p.Ala1724Asp)
15g.28141443C>ACA391380861HERC2c.12004G>T (p.Ala4002Ser)
c.3715G>T (p.Ala1239Ser)
c.11890G>T (p.Ala3964Ser)
c.11989G>T (p.Ala3997Ser)
c.11746G>T (p.Ala3916Ser)
c.11521G>T (p.Ala3841Ser)
c.9520G>T (p.Ala3174Ser)
c.8749G>T (p.Ala2917Ser)
c.6121G>T (p.Ala2041Ser)
c.5170G>T (p.Ala1724Ser)
15g.28141443C=CA2166479817HERC2c.12004G= (p.Ala4002=)
c.3715G= (p.Ala1239=)
c.11890G= (p.Ala3964=)
c.11989G= (p.Ala3997=)
c.11746G= (p.Ala3916=)
c.11521G= (p.Ala3841=)
c.9520G= (p.Ala3174=)
c.8749G= (p.Ala2917=)
c.6121G= (p.Ala2041=)
c.5170G= (p.Ala1724=)
15g.28141443C>GCA391380864HERC2c.12004G>C (p.Ala4002Pro)
c.3715G>C (p.Ala1239Pro)
c.11890G>C (p.Ala3964Pro)
c.11989G>C (p.Ala3997Pro)
c.11746G>C (p.Ala3916Pro)
c.11521G>C (p.Ala3841Pro)
c.9520G>C (p.Ala3174Pro)
c.8749G>C (p.Ala2917Pro)
c.6121G>C (p.Ala2041Pro)
c.5170G>C (p.Ala1724Pro)
15g.28141443C>TCA7440416HERC2c.12004G>A (p.Ala4002Thr)
c.3715G>A (p.Ala1239Thr)
c.11890G>A (p.Ala3964Thr)
c.11989G>A (p.Ala3997Thr)
c.11746G>A (p.Ala3916Thr)
c.11521G>A (p.Ala3841Thr)
c.9520G>A (p.Ala3174Thr)
c.8749G>A (p.Ala2917Thr)
c.6121G>A (p.Ala2041Thr)
c.5170G>A (p.Ala1724Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141444C>ACA489234644HERC2c.12003G>T (p.Thr4001=)
c.3714G>T (p.Thr1238=)
c.11889G>T (p.Thr3963=)
c.11988G>T (p.Thr3996=)
c.11745G>T (p.Thr3915=)
c.11520G>T (p.Thr3840=)
c.9519G>T (p.Thr3173=)
c.8748G>T (p.Thr2916=)
c.6120G>T (p.Thr2040=)
c.5169G>T (p.Thr1723=)
15g.28141444C=CA2166479820HERC2c.12003G= (p.Thr4001=)
c.3714G= (p.Thr1238=)
c.11889G= (p.Thr3963=)
c.11988G= (p.Thr3996=)
c.11745G= (p.Thr3915=)
c.11520G= (p.Thr3840=)
c.9519G= (p.Thr3173=)
c.8748G= (p.Thr2916=)
c.6120G= (p.Thr2040=)
c.5169G= (p.Thr1723=)
15g.28141444C>GCA267945985HERC2c.12003G>C (p.Thr4001=)
c.3714G>C (p.Thr1238=)
c.11889G>C (p.Thr3963=)
c.11988G>C (p.Thr3996=)
c.11745G>C (p.Thr3915=)
c.11520G>C (p.Thr3840=)
c.9519G>C (p.Thr3173=)
c.8748G>C (p.Thr2916=)
c.6120G>C (p.Thr2040=)
c.5169G>C (p.Thr1723=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141444C>TCA7440417HERC2c.12003G>A (p.Thr4001=)
c.3714G>A (p.Thr1238=)
c.11889G>A (p.Thr3963=)
c.11988G>A (p.Thr3996=)
c.11745G>A (p.Thr3915=)
c.11520G>A (p.Thr3840=)
c.9519G>A (p.Thr3173=)
c.8748G>A (p.Thr2916=)
c.6120G>A (p.Thr2040=)
c.5169G>A (p.Thr1723=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141445G>ACA7440418HERC2c.12002C>T (p.Thr4001Met)
c.3713C>T (p.Thr1238Met)
c.11888C>T (p.Thr3963Met)
c.11987C>T (p.Thr3996Met)
c.11744C>T (p.Thr3915Met)
c.11519C>T (p.Thr3840Met)
c.9518C>T (p.Thr3173Met)
c.8747C>T (p.Thr2916Met)
c.6119C>T (p.Thr2040Met)
c.5168C>T (p.Thr1723Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141445G>CCA391380872HERC2c.12002C>G (p.Thr4001Arg)
c.3713C>G (p.Thr1238Arg)
c.11888C>G (p.Thr3963Arg)
c.11987C>G (p.Thr3996Arg)
c.11744C>G (p.Thr3915Arg)
c.11519C>G (p.Thr3840Arg)
c.9518C>G (p.Thr3173Arg)
c.8747C>G (p.Thr2916Arg)
c.6119C>G (p.Thr2040Arg)
c.5168C>G (p.Thr1723Arg)
15g.28141445G=CA2166479822HERC2c.12002C= (p.Thr4001=)
c.3713C= (p.Thr1238=)
c.11888C= (p.Thr3963=)
c.11987C= (p.Thr3996=)
c.11744C= (p.Thr3915=)
c.11519C= (p.Thr3840=)
c.9518C= (p.Thr3173=)
c.8747C= (p.Thr2916=)
c.6119C= (p.Thr2040=)
c.5168C= (p.Thr1723=)
15g.28141445G>TCA391380873HERC2c.12002C>A (p.Thr4001Lys)
c.3713C>A (p.Thr1238Lys)
c.11888C>A (p.Thr3963Lys)
c.11987C>A (p.Thr3996Lys)
c.11744C>A (p.Thr3915Lys)
c.11519C>A (p.Thr3840Lys)
c.9518C>A (p.Thr3173Lys)
c.8747C>A (p.Thr2916Lys)
c.6119C>A (p.Thr2040Lys)
c.5168C>A (p.Thr1723Lys)
15g.28141446T>ACA391380879HERC2c.12001A>T (p.Thr4001Ser)
c.3712A>T (p.Thr1238Ser)
c.11887A>T (p.Thr3963Ser)
c.11986A>T (p.Thr3996Ser)
c.11743A>T (p.Thr3915Ser)
c.11518A>T (p.Thr3840Ser)
c.9517A>T (p.Thr3173Ser)
c.8746A>T (p.Thr2916Ser)
c.6118A>T (p.Thr2040Ser)
c.5167A>T (p.Thr1723Ser)
15g.28141446T>CCA391380880HERC2c.12001A>G (p.Thr4001Ala)
c.3712A>G (p.Thr1238Ala)
c.11887A>G (p.Thr3963Ala)
c.11986A>G (p.Thr3996Ala)
c.11743A>G (p.Thr3915Ala)
c.11518A>G (p.Thr3840Ala)
c.9517A>G (p.Thr3173Ala)
c.8746A>G (p.Thr2916Ala)
c.6118A>G (p.Thr2040Ala)
c.5167A>G (p.Thr1723Ala)
15g.28141446T>GCA391380882HERC2c.12001A>C (p.Thr4001Pro)
c.3712A>C (p.Thr1238Pro)
c.11887A>C (p.Thr3963Pro)
c.11986A>C (p.Thr3996Pro)
c.11743A>C (p.Thr3915Pro)
c.11518A>C (p.Thr3840Pro)
c.9517A>C (p.Thr3173Pro)
c.8746A>C (p.Thr2916Pro)
c.6118A>C (p.Thr2040Pro)
c.5167A>C (p.Thr1723Pro)
15g.28141447C>ACA489234646HERC2c.12000G>T (p.Val4000=)
c.3711G>T (p.Val1237=)
c.11886G>T (p.Val3962=)
c.11985G>T (p.Val3995=)
c.11742G>T (p.Val3914=)
c.11517G>T (p.Val3839=)
c.9516G>T (p.Val3172=)
c.8745G>T (p.Val2915=)
c.6117G>T (p.Val2039=)
c.5166G>T (p.Val1722=)
15g.28141447C>GCA489234647HERC2c.12000G>C (p.Val4000=)
c.3711G>C (p.Val1237=)
c.11886G>C (p.Val3962=)
c.11985G>C (p.Val3995=)
c.11742G>C (p.Val3914=)
c.11517G>C (p.Val3839=)
c.9516G>C (p.Val3172=)
c.8745G>C (p.Val2915=)
c.6117G>C (p.Val2039=)
c.5166G>C (p.Val1722=)
15g.28141447C>TCA489234648HERC2c.12000G>A (p.Val4000=)
c.3711G>A (p.Val1237=)
c.11886G>A (p.Val3962=)
c.11985G>A (p.Val3995=)
c.11742G>A (p.Val3914=)
c.11517G>A (p.Val3839=)
c.9516G>A (p.Val3172=)
c.8745G>A (p.Val2915=)
c.6117G>A (p.Val2039=)
c.5166G>A (p.Val1722=)
15g.28141448A>CCA391380884HERC2c.11999T>G (p.Val4000Gly)
c.3710T>G (p.Val1237Gly)
c.11885T>G (p.Val3962Gly)
c.11984T>G (p.Val3995Gly)
c.11741T>G (p.Val3914Gly)
c.11516T>G (p.Val3839Gly)
c.9515T>G (p.Val3172Gly)
c.8744T>G (p.Val2915Gly)
c.6116T>G (p.Val2039Gly)
c.5165T>G (p.Val1722Gly)
15g.28141448A>GCA391380886HERC2c.11999T>C (p.Val4000Ala)
c.3710T>C (p.Val1237Ala)
c.11885T>C (p.Val3962Ala)
c.11984T>C (p.Val3995Ala)
c.11741T>C (p.Val3914Ala)
c.11516T>C (p.Val3839Ala)
c.9515T>C (p.Val3172Ala)
c.8744T>C (p.Val2915Ala)
c.6116T>C (p.Val2039Ala)
c.5165T>C (p.Val1722Ala)
 COSMIC COSMIC
15g.28141448A>TCA391380888HERC2c.11999T>A (p.Val4000Glu)
c.3710T>A (p.Val1237Glu)
c.11885T>A (p.Val3962Glu)
c.11984T>A (p.Val3995Glu)
c.11741T>A (p.Val3914Glu)
c.11516T>A (p.Val3839Glu)
c.9515T>A (p.Val3172Glu)
c.8744T>A (p.Val2915Glu)
c.6116T>A (p.Val2039Glu)
c.5165T>A (p.Val1722Glu)
15g.28141449C>ACA391380895HERC2c.11998G>T (p.Val4000Leu)
c.3709G>T (p.Val1237Leu)
c.11884G>T (p.Val3962Leu)
c.11983G>T (p.Val3995Leu)
c.11740G>T (p.Val3914Leu)
c.11515G>T (p.Val3839Leu)
c.9514G>T (p.Val3172Leu)
c.8743G>T (p.Val2915Leu)
c.6115G>T (p.Val2039Leu)
c.5164G>T (p.Val1722Leu)
15g.28141449C=CA2166479824HERC2c.11998G= (p.Val4000=)
c.3709G= (p.Val1237=)
c.11884G= (p.Val3962=)
c.11983G= (p.Val3995=)
c.11740G= (p.Val3914=)
c.11515G= (p.Val3839=)
c.9514G= (p.Val3172=)
c.8743G= (p.Val2915=)
c.6115G= (p.Val2039=)
c.5164G= (p.Val1722=)
15g.28141449C>GCA391380892HERC2c.11998G>C (p.Val4000Leu)
c.3709G>C (p.Val1237Leu)
c.11884G>C (p.Val3962Leu)
c.11983G>C (p.Val3995Leu)
c.11740G>C (p.Val3914Leu)
c.11515G>C (p.Val3839Leu)
c.9514G>C (p.Val3172Leu)
c.8743G>C (p.Val2915Leu)
c.6115G>C (p.Val2039Leu)
c.5164G>C (p.Val1722Leu)
15g.28141449C>TCA7440419HERC2c.11998G>A (p.Val4000Met)
c.3709G>A (p.Val1237Met)
c.11884G>A (p.Val3962Met)
c.11983G>A (p.Val3995Met)
c.11740G>A (p.Val3914Met)
c.11515G>A (p.Val3839Met)
c.9514G>A (p.Val3172Met)
c.8743G>A (p.Val2915Met)
c.6115G>A (p.Val2039Met)
c.5164G>A (p.Val1722Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141450A=CA2166479826HERC2c.11997T= (p.Ala3999=)
c.3708T= (p.Ala1236=)
c.11883T= (p.Ala3961=)
c.11982T= (p.Ala3994=)
c.11739T= (p.Ala3913=)
c.11514T= (p.Ala3838=)
c.9513T= (p.Ala3171=)
c.8742T= (p.Ala2914=)
c.6114T= (p.Ala2038=)
c.5163T= (p.Ala1721=)
15g.28141450A>CCA489234650HERC2c.11997T>G (p.Ala3999=)
c.3708T>G (p.Ala1236=)
c.11883T>G (p.Ala3961=)
c.11982T>G (p.Ala3994=)
c.11739T>G (p.Ala3913=)
c.11514T>G (p.Ala3838=)
c.9513T>G (p.Ala3171=)
c.8742T>G (p.Ala2914=)
c.6114T>G (p.Ala2038=)
c.5163T>G (p.Ala1721=)
15g.28141450A>GCA489234651HERC2c.11997T>C (p.Ala3999=)
c.3708T>C (p.Ala1236=)
c.11883T>C (p.Ala3961=)
c.11982T>C (p.Ala3994=)
c.11739T>C (p.Ala3913=)
c.11514T>C (p.Ala3838=)
c.9513T>C (p.Ala3171=)
c.8742T>C (p.Ala2914=)
c.6114T>C (p.Ala2038=)
c.5163T>C (p.Ala1721=)
15g.28141450A>TCA7440420HERC2c.11997T>A (p.Ala3999=)
c.3708T>A (p.Ala1236=)
c.11883T>A (p.Ala3961=)
c.11982T>A (p.Ala3994=)
c.11739T>A (p.Ala3913=)
c.11514T>A (p.Ala3838=)
c.9513T>A (p.Ala3171=)
c.8742T>A (p.Ala2914=)
c.6114T>A (p.Ala2038=)
c.5163T>A (p.Ala1721=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141451G>ACA391380898HERC2c.11996C>T (p.Ala3999Val)
c.3707C>T (p.Ala1236Val)
c.11882C>T (p.Ala3961Val)
c.11981C>T (p.Ala3994Val)
c.11738C>T (p.Ala3913Val)
c.11513C>T (p.Ala3838Val)
c.9512C>T (p.Ala3171Val)
c.8741C>T (p.Ala2914Val)
c.6113C>T (p.Ala2038Val)
c.5162C>T (p.Ala1721Val)
15g.28141451G>CCA391380900HERC2c.11996C>G (p.Ala3999Gly)
c.3707C>G (p.Ala1236Gly)
c.11882C>G (p.Ala3961Gly)
c.11981C>G (p.Ala3994Gly)
c.11738C>G (p.Ala3913Gly)
c.11513C>G (p.Ala3838Gly)
c.9512C>G (p.Ala3171Gly)
c.8741C>G (p.Ala2914Gly)
c.6113C>G (p.Ala2038Gly)
c.5162C>G (p.Ala1721Gly)
15g.28141451G>TCA391380903HERC2c.11996C>A (p.Ala3999Asp)
c.3707C>A (p.Ala1236Asp)
c.11882C>A (p.Ala3961Asp)
c.11981C>A (p.Ala3994Asp)
c.11738C>A (p.Ala3913Asp)
c.11513C>A (p.Ala3838Asp)
c.9512C>A (p.Ala3171Asp)
c.8741C>A (p.Ala2914Asp)
c.6113C>A (p.Ala2038Asp)
c.5162C>A (p.Ala1721Asp)
 gnomAD v4
15g.28141452C>ACA391380906HERC2c.11995G>T (p.Ala3999Ser)
c.3706G>T (p.Ala1236Ser)
c.11881G>T (p.Ala3961Ser)
c.11980G>T (p.Ala3994Ser)
c.11737G>T (p.Ala3913Ser)
c.11512G>T (p.Ala3838Ser)
c.9511G>T (p.Ala3171Ser)
c.8740G>T (p.Ala2914Ser)
c.6112G>T (p.Ala2038Ser)
c.5161G>T (p.Ala1721Ser)
15g.28141452C>GCA391380908HERC2c.11995G>C (p.Ala3999Pro)
c.3706G>C (p.Ala1236Pro)
c.11881G>C (p.Ala3961Pro)
c.11980G>C (p.Ala3994Pro)
c.11737G>C (p.Ala3913Pro)
c.11512G>C (p.Ala3838Pro)
c.9511G>C (p.Ala3171Pro)
c.8740G>C (p.Ala2914Pro)
c.6112G>C (p.Ala2038Pro)
c.5161G>C (p.Ala1721Pro)
15g.28141452C>TCA391380911HERC2c.11995G>A (p.Ala3999Thr)
c.3706G>A (p.Ala1236Thr)
c.11881G>A (p.Ala3961Thr)
c.11980G>A (p.Ala3994Thr)
c.11737G>A (p.Ala3913Thr)
c.11512G>A (p.Ala3838Thr)
c.9511G>A (p.Ala3171Thr)
c.8740G>A (p.Ala2914Thr)
c.6112G>A (p.Ala2038Thr)
c.5161G>A (p.Ala1721Thr)
15g.28141453A>CCA391380915HERC2c.11994T>G (p.Phe3998Leu)
c.3705T>G (p.Phe1235Leu)
c.11880T>G (p.Phe3960Leu)
c.11979T>G (p.Phe3993Leu)
c.11736T>G (p.Phe3912Leu)
c.11511T>G (p.Phe3837Leu)
c.9510T>G (p.Phe3170Leu)
c.8739T>G (p.Phe2913Leu)
c.6111T>G (p.Phe2037Leu)
c.5160T>G (p.Phe1720Leu)
15g.28141453A>GCA489234654HERC2c.11994T>C (p.Phe3998=)
c.3705T>C (p.Phe1235=)
c.11880T>C (p.Phe3960=)
c.11979T>C (p.Phe3993=)
c.11736T>C (p.Phe3912=)
c.11511T>C (p.Phe3837=)
c.9510T>C (p.Phe3170=)
c.8739T>C (p.Phe2913=)
c.6111T>C (p.Phe2037=)
c.5160T>C (p.Phe1720=)
15g.28141453A>TCA391380916HERC2c.11994T>A (p.Phe3998Leu)
c.3705T>A (p.Phe1235Leu)
c.11880T>A (p.Phe3960Leu)
c.11979T>A (p.Phe3993Leu)
c.11736T>A (p.Phe3912Leu)
c.11511T>A (p.Phe3837Leu)
c.9510T>A (p.Phe3170Leu)
c.8739T>A (p.Phe2913Leu)
c.6111T>A (p.Phe2037Leu)
c.5160T>A (p.Phe1720Leu)
15g.28141454A>CCA391380920HERC2c.11993T>G (p.Phe3998Cys)
c.3704T>G (p.Phe1235Cys)
c.11879T>G (p.Phe3960Cys)
c.11978T>G (p.Phe3993Cys)
c.11735T>G (p.Phe3912Cys)
c.11510T>G (p.Phe3837Cys)
c.9509T>G (p.Phe3170Cys)
c.8738T>G (p.Phe2913Cys)
c.6110T>G (p.Phe2037Cys)
c.5159T>G (p.Phe1720Cys)
15g.28141454A>GCA391380922HERC2c.11993T>C (p.Phe3998Ser)
c.3704T>C (p.Phe1235Ser)
c.11879T>C (p.Phe3960Ser)
c.11978T>C (p.Phe3993Ser)
c.11735T>C (p.Phe3912Ser)
c.11510T>C (p.Phe3837Ser)
c.9509T>C (p.Phe3170Ser)
c.8738T>C (p.Phe2913Ser)
c.6110T>C (p.Phe2037Ser)
c.5159T>C (p.Phe1720Ser)
15g.28141454A>TCA391380925HERC2c.11993T>A (p.Phe3998Tyr)
c.3704T>A (p.Phe1235Tyr)
c.11879T>A (p.Phe3960Tyr)
c.11978T>A (p.Phe3993Tyr)
c.11735T>A (p.Phe3912Tyr)
c.11510T>A (p.Phe3837Tyr)
c.9509T>A (p.Phe3170Tyr)
c.8738T>A (p.Phe2913Tyr)
c.6110T>A (p.Phe2037Tyr)
c.5159T>A (p.Phe1720Tyr)
15g.28141455A=CA2166479828HERC2c.11992T= (p.Phe3998=)
c.3703T= (p.Phe1235=)
c.11878T= (p.Phe3960=)
c.11977T= (p.Phe3993=)
c.11734T= (p.Phe3912=)
c.11509T= (p.Phe3837=)
c.9508T= (p.Phe3170=)
c.8737T= (p.Phe2913=)
c.6109T= (p.Phe2037=)
c.5158T= (p.Phe1720=)
15g.28141455A>CCA391380933HERC2c.11992T>G (p.Phe3998Val)
c.3703T>G (p.Phe1235Val)
c.11878T>G (p.Phe3960Val)
c.11977T>G (p.Phe3993Val)
c.11734T>G (p.Phe3912Val)
c.11509T>G (p.Phe3837Val)
c.9508T>G (p.Phe3170Val)
c.8737T>G (p.Phe2913Val)
c.6109T>G (p.Phe2037Val)
c.5158T>G (p.Phe1720Val)
15g.28141455A>GCA7440421HERC2c.11992T>C (p.Phe3998Leu)
c.3703T>C (p.Phe1235Leu)
c.11878T>C (p.Phe3960Leu)
c.11977T>C (p.Phe3993Leu)
c.11734T>C (p.Phe3912Leu)
c.11509T>C (p.Phe3837Leu)
c.9508T>C (p.Phe3170Leu)
c.8737T>C (p.Phe2913Leu)
c.6109T>C (p.Phe2037Leu)
c.5158T>C (p.Phe1720Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141455A>TCA391380929HERC2c.11992T>A (p.Phe3998Ile)
c.3703T>A (p.Phe1235Ile)
c.11878T>A (p.Phe3960Ile)
c.11977T>A (p.Phe3993Ile)
c.11734T>A (p.Phe3912Ile)
c.11509T>A (p.Phe3837Ile)
c.9508T>A (p.Phe3170Ile)
c.8737T>A (p.Phe2913Ile)
c.6109T>A (p.Phe2037Ile)
c.5158T>A (p.Phe1720Ile)
15g.28141456G>ACA489234656HERC2c.11991C>T (p.Leu3997=)
c.3702C>T (p.Leu1234=)
c.11877C>T (p.Leu3959=)
c.11976C>T (p.Leu3992=)
c.11733C>T (p.Leu3911=)
c.11508C>T (p.Leu3836=)
c.9507C>T (p.Leu3169=)
c.8736C>T (p.Leu2912=)
c.6108C>T (p.Leu2036=)
c.5157C>T (p.Leu1719=)
 COSMIC COSMIC
15g.28141456G>CCA489234657HERC2c.11991C>G (p.Leu3997=)
c.3702C>G (p.Leu1234=)
c.11877C>G (p.Leu3959=)
c.11976C>G (p.Leu3992=)
c.11733C>G (p.Leu3911=)
c.11508C>G (p.Leu3836=)
c.9507C>G (p.Leu3169=)
c.8736C>G (p.Leu2912=)
c.6108C>G (p.Leu2036=)
c.5157C>G (p.Leu1719=)
 ClinVar dbSNP
15g.28141456G=CA2166479831HERC2c.11991C= (p.Leu3997=)
c.3702C= (p.Leu1234=)
c.11877C= (p.Leu3959=)
c.11976C= (p.Leu3992=)
c.11733C= (p.Leu3911=)
c.11508C= (p.Leu3836=)
c.9507C= (p.Leu3169=)
c.8736C= (p.Leu2912=)
c.6108C= (p.Leu2036=)
c.5157C= (p.Leu1719=)
15g.28141456G>TCA489234658HERC2c.11991C>A (p.Leu3997=)
c.3702C>A (p.Leu1234=)
c.11877C>A (p.Leu3959=)
c.11976C>A (p.Leu3992=)
c.11733C>A (p.Leu3911=)
c.11508C>A (p.Leu3836=)
c.9507C>A (p.Leu3169=)
c.8736C>A (p.Leu2912=)
c.6108C>A (p.Leu2036=)
c.5157C>A (p.Leu1719=)
 gnomAD v4
15g.28141457A>CCA391380936HERC2c.11990T>G (p.Leu3997Arg)
c.3701T>G (p.Leu1234Arg)
c.11876T>G (p.Leu3959Arg)
c.11975T>G (p.Leu3992Arg)
c.11732T>G (p.Leu3911Arg)
c.11507T>G (p.Leu3836Arg)
c.9506T>G (p.Leu3169Arg)
c.8735T>G (p.Leu2912Arg)
c.6107T>G (p.Leu2036Arg)
c.5156T>G (p.Leu1719Arg)
15g.28141457A>GCA391380941HERC2c.11990T>C (p.Leu3997Pro)
c.3701T>C (p.Leu1234Pro)
c.11876T>C (p.Leu3959Pro)
c.11975T>C (p.Leu3992Pro)
c.11732T>C (p.Leu3911Pro)
c.11507T>C (p.Leu3836Pro)
c.9506T>C (p.Leu3169Pro)
c.8735T>C (p.Leu2912Pro)
c.6107T>C (p.Leu2036Pro)
c.5156T>C (p.Leu1719Pro)
15g.28141457A>TCA391380938HERC2c.11990T>A (p.Leu3997His)
c.3701T>A (p.Leu1234His)
c.11876T>A (p.Leu3959His)
c.11975T>A (p.Leu3992His)
c.11732T>A (p.Leu3911His)
c.11507T>A (p.Leu3836His)
c.9506T>A (p.Leu3169His)
c.8735T>A (p.Leu2912His)
c.6107T>A (p.Leu2036His)
c.5156T>A (p.Leu1719His)
15g.28141458G>ACA391380945HERC2c.11989C>T (p.Leu3997Phe)
c.3700C>T (p.Leu1234Phe)
c.11875C>T (p.Leu3959Phe)
c.11974C>T (p.Leu3992Phe)
c.11731C>T (p.Leu3911Phe)
c.11506C>T (p.Leu3836Phe)
c.9505C>T (p.Leu3169Phe)
c.8734C>T (p.Leu2912Phe)
c.6106C>T (p.Leu2036Phe)
c.5155C>T (p.Leu1719Phe)
15g.28141458G>CCA391380950HERC2c.11989C>G (p.Leu3997Val)
c.3700C>G (p.Leu1234Val)
c.11875C>G (p.Leu3959Val)
c.11974C>G (p.Leu3992Val)
c.11731C>G (p.Leu3911Val)
c.11506C>G (p.Leu3836Val)
c.9505C>G (p.Leu3169Val)
c.8734C>G (p.Leu2912Val)
c.6106C>G (p.Leu2036Val)
c.5155C>G (p.Leu1719Val)
15g.28141458G>TCA391380947HERC2c.11989C>A (p.Leu3997Ile)
c.3700C>A (p.Leu1234Ile)
c.11875C>A (p.Leu3959Ile)
c.11974C>A (p.Leu3992Ile)
c.11731C>A (p.Leu3911Ile)
c.11506C>A (p.Leu3836Ile)
c.9505C>A (p.Leu3169Ile)
c.8734C>A (p.Leu2912Ile)
c.6106C>A (p.Leu2036Ile)
c.5155C>A (p.Leu1719Ile)
15g.28141459G>ACA7440422HERC2c.11988C>T (p.Thr3996=)
c.3699C>T (p.Thr1233=)
c.11874C>T (p.Thr3958=)
c.11973C>T (p.Thr3991=)
c.11730C>T (p.Thr3910=)
c.11505C>T (p.Thr3835=)
c.9504C>T (p.Thr3168=)
c.8733C>T (p.Thr2911=)
c.6105C>T (p.Thr2035=)
c.5154C>T (p.Thr1718=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141459G>CCA489234659HERC2c.11988C>G (p.Thr3996=)
c.3699C>G (p.Thr1233=)
c.11874C>G (p.Thr3958=)
c.11973C>G (p.Thr3991=)
c.11730C>G (p.Thr3910=)
c.11505C>G (p.Thr3835=)
c.9504C>G (p.Thr3168=)
c.8733C>G (p.Thr2911=)
c.6105C>G (p.Thr2035=)
c.5154C>G (p.Thr1718=)
15g.28141459G=CA2166479834HERC2c.11988C= (p.Thr3996=)
c.3699C= (p.Thr1233=)
c.11874C= (p.Thr3958=)
c.11973C= (p.Thr3991=)
c.11730C= (p.Thr3910=)
c.11505C= (p.Thr3835=)
c.9504C= (p.Thr3168=)
c.8733C= (p.Thr2911=)
c.6105C= (p.Thr2035=)
c.5154C= (p.Thr1718=)
15g.28141459G>TCA489234660HERC2c.11988C>A (p.Thr3996=)
c.3699C>A (p.Thr1233=)
c.11874C>A (p.Thr3958=)
c.11973C>A (p.Thr3991=)
c.11730C>A (p.Thr3910=)
c.11505C>A (p.Thr3835=)
c.9504C>A (p.Thr3168=)
c.8733C>A (p.Thr2911=)
c.6105C>A (p.Thr2035=)
c.5154C>A (p.Thr1718=)
15g.28141460G>ACA391380959HERC2c.11987C>T (p.Thr3996Ile)
c.3698C>T (p.Thr1233Ile)
c.11873C>T (p.Thr3958Ile)
c.11972C>T (p.Thr3991Ile)
c.11729C>T (p.Thr3910Ile)
c.11504C>T (p.Thr3835Ile)
c.9503C>T (p.Thr3168Ile)
c.8732C>T (p.Thr2911Ile)
c.6104C>T (p.Thr2035Ile)
c.5153C>T (p.Thr1718Ile)
15g.28141460G>CCA391380955HERC2c.11987C>G (p.Thr3996Ser)
c.3698C>G (p.Thr1233Ser)
c.11873C>G (p.Thr3958Ser)
c.11972C>G (p.Thr3991Ser)
c.11729C>G (p.Thr3910Ser)
c.11504C>G (p.Thr3835Ser)
c.9503C>G (p.Thr3168Ser)
c.8732C>G (p.Thr2911Ser)
c.6104C>G (p.Thr2035Ser)
c.5153C>G (p.Thr1718Ser)
15g.28141460G>TCA391380957HERC2c.11987C>A (p.Thr3996Asn)
c.3698C>A (p.Thr1233Asn)
c.11873C>A (p.Thr3958Asn)
c.11972C>A (p.Thr3991Asn)
c.11729C>A (p.Thr3910Asn)
c.11504C>A (p.Thr3835Asn)
c.9503C>A (p.Thr3168Asn)
c.8732C>A (p.Thr2911Asn)
c.6104C>A (p.Thr2035Asn)
c.5153C>A (p.Thr1718Asn)
15g.28141461T>ACA391380962HERC2c.11986A>T (p.Thr3996Ser)
c.3697A>T (p.Thr1233Ser)
c.11872A>T (p.Thr3958Ser)
c.11971A>T (p.Thr3991Ser)
c.11728A>T (p.Thr3910Ser)
c.11503A>T (p.Thr3835Ser)
c.9502A>T (p.Thr3168Ser)
c.8731A>T (p.Thr2911Ser)
c.6103A>T (p.Thr2035Ser)
c.5152A>T (p.Thr1718Ser)
15g.28141461T>CCA391380964HERC2c.11986A>G (p.Thr3996Ala)
c.3697A>G (p.Thr1233Ala)
c.11872A>G (p.Thr3958Ala)
c.11971A>G (p.Thr3991Ala)
c.11728A>G (p.Thr3910Ala)
c.11503A>G (p.Thr3835Ala)
c.9502A>G (p.Thr3168Ala)
c.8731A>G (p.Thr2911Ala)
c.6103A>G (p.Thr2035Ala)
c.5152A>G (p.Thr1718Ala)
15g.28141461T>GCA391380965HERC2c.11986A>C (p.Thr3996Pro)
c.3697A>C (p.Thr1233Pro)
c.11872A>C (p.Thr3958Pro)
c.11971A>C (p.Thr3991Pro)
c.11728A>C (p.Thr3910Pro)
c.11503A>C (p.Thr3835Pro)
c.9502A>C (p.Thr3168Pro)
c.8731A>C (p.Thr2911Pro)
c.6103A>C (p.Thr2035Pro)
c.5152A>C (p.Thr1718Pro)
15g.28141462C>ACA391380967HERC2c.11985G>T (p.Gln3995His)
c.3696G>T (p.Gln1232His)
c.11871G>T (p.Gln3957His)
c.11970G>T (p.Gln3990His)
c.11727G>T (p.Gln3909His)
c.11502G>T (p.Gln3834His)
c.9501G>T (p.Gln3167His)
c.8730G>T (p.Gln2910His)
c.6102G>T (p.Gln2034His)
c.5151G>T (p.Gln1717His)
15g.28141462C>GCA391380968HERC2c.11985G>C (p.Gln3995His)
c.3696G>C (p.Gln1232His)
c.11871G>C (p.Gln3957His)
c.11970G>C (p.Gln3990His)
c.11727G>C (p.Gln3909His)
c.11502G>C (p.Gln3834His)
c.9501G>C (p.Gln3167His)
c.8730G>C (p.Gln2910His)
c.6102G>C (p.Gln2034His)
c.5151G>C (p.Gln1717His)
15g.28141462C>TCA489234662HERC2c.11985G>A (p.Gln3995=)
c.3696G>A (p.Gln1232=)
c.11871G>A (p.Gln3957=)
c.11970G>A (p.Gln3990=)
c.11727G>A (p.Gln3909=)
c.11502G>A (p.Gln3834=)
c.9501G>A (p.Gln3167=)
c.8730G>A (p.Gln2910=)
c.6102G>A (p.Gln2034=)
c.5151G>A (p.Gln1717=)
15g.28141463T>ACA391380972HERC2c.11984A>T (p.Gln3995Leu)
c.3695A>T (p.Gln1232Leu)
c.11870A>T (p.Gln3957Leu)
c.11969A>T (p.Gln3990Leu)
c.11726A>T (p.Gln3909Leu)
c.11501A>T (p.Gln3834Leu)
c.9500A>T (p.Gln3167Leu)
c.8729A>T (p.Gln2910Leu)
c.6101A>T (p.Gln2034Leu)
c.5150A>T (p.Gln1717Leu)
15g.28141463T>CCA391380974HERC2c.11984A>G (p.Gln3995Arg)
c.3695A>G (p.Gln1232Arg)
c.11870A>G (p.Gln3957Arg)
c.11969A>G (p.Gln3990Arg)
c.11726A>G (p.Gln3909Arg)
c.11501A>G (p.Gln3834Arg)
c.9500A>G (p.Gln3167Arg)
c.8729A>G (p.Gln2910Arg)
c.6101A>G (p.Gln2034Arg)
c.5150A>G (p.Gln1717Arg)
15g.28141463T>GCA391380976HERC2c.11984A>C (p.Gln3995Pro)
c.3695A>C (p.Gln1232Pro)
c.11870A>C (p.Gln3957Pro)
c.11969A>C (p.Gln3990Pro)
c.11726A>C (p.Gln3909Pro)
c.11501A>C (p.Gln3834Pro)
c.9500A>C (p.Gln3167Pro)
c.8729A>C (p.Gln2910Pro)
c.6101A>C (p.Gln2034Pro)
c.5150A>C (p.Gln1717Pro)
15g.28141464G>ACA391380984HERC2c.11983C>T (p.Gln3995Ter)
c.3694C>T (p.Gln1232Ter)
c.11869C>T (p.Gln3957Ter)
c.11968C>T (p.Gln3990Ter)
c.11725C>T (p.Gln3909Ter)
c.11500C>T (p.Gln3834Ter)
c.9499C>T (p.Gln3167Ter)
c.8728C>T (p.Gln2910Ter)
c.6100C>T (p.Gln2034Ter)
c.5149C>T (p.Gln1717Ter)
15g.28141464G>CCA391380983HERC2c.11983C>G (p.Gln3995Glu)
c.3694C>G (p.Gln1232Glu)
c.11869C>G (p.Gln3957Glu)
c.11968C>G (p.Gln3990Glu)
c.11725C>G (p.Gln3909Glu)
c.11500C>G (p.Gln3834Glu)
c.9499C>G (p.Gln3167Glu)
c.8728C>G (p.Gln2910Glu)
c.6100C>G (p.Gln2034Glu)
c.5149C>G (p.Gln1717Glu)
 dbSNP gnomAD v3 gnomAD v4
15g.28141464G=CA2166479835HERC2c.11983C= (p.Gln3995=)
c.3694C= (p.Gln1232=)
c.11869C= (p.Gln3957=)
c.11968C= (p.Gln3990=)
c.11725C= (p.Gln3909=)
c.11500C= (p.Gln3834=)
c.9499C= (p.Gln3167=)
c.8728C= (p.Gln2910=)
c.6100C= (p.Gln2034=)
c.5149C= (p.Gln1717=)
15g.28141464G>TCA391380980HERC2c.11983C>A (p.Gln3995Lys)
c.3694C>A (p.Gln1232Lys)
c.11869C>A (p.Gln3957Lys)
c.11968C>A (p.Gln3990Lys)
c.11725C>A (p.Gln3909Lys)
c.11500C>A (p.Gln3834Lys)
c.9499C>A (p.Gln3167Lys)
c.8728C>A (p.Gln2910Lys)
c.6100C>A (p.Gln2034Lys)
c.5149C>A (p.Gln1717Lys)
 gnomAD v4
15g.28141465T>ACA391380986HERC2c.11982A>T (p.Glu3994Asp)
c.3693A>T (p.Glu1231Asp)
c.11868A>T (p.Glu3956Asp)
c.11967A>T (p.Glu3989Asp)
c.11724A>T (p.Glu3908Asp)
c.11499A>T (p.Glu3833Asp)
c.9498A>T (p.Glu3166Asp)
c.8727A>T (p.Glu2909Asp)
c.6099A>T (p.Glu2033Asp)
c.5148A>T (p.Glu1716Asp)
15g.28141465T>CCA489234665HERC2c.11982A>G (p.Glu3994=)
c.3693A>G (p.Glu1231=)
c.11868A>G (p.Glu3956=)
c.11967A>G (p.Glu3989=)
c.11724A>G (p.Glu3908=)
c.11499A>G (p.Glu3833=)
c.9498A>G (p.Glu3166=)
c.8727A>G (p.Glu2909=)
c.6099A>G (p.Glu2033=)
c.5148A>G (p.Glu1716=)
 gnomAD v4
15g.28141465T>GCA391380987HERC2c.11982A>C (p.Glu3994Asp)
c.3693A>C (p.Glu1231Asp)
c.11868A>C (p.Glu3956Asp)
c.11967A>C (p.Glu3989Asp)
c.11724A>C (p.Glu3908Asp)
c.11499A>C (p.Glu3833Asp)
c.9498A>C (p.Glu3166Asp)
c.8727A>C (p.Glu2909Asp)
c.6099A>C (p.Glu2033Asp)
c.5148A>C (p.Glu1716Asp)
15g.28141466T>ACA391380991HERC2c.11981A>T (p.Glu3994Val)
c.3692A>T (p.Glu1231Val)
c.11867A>T (p.Glu3956Val)
c.11966A>T (p.Glu3989Val)
c.11723A>T (p.Glu3908Val)
c.11498A>T (p.Glu3833Val)
c.9497A>T (p.Glu3166Val)
c.8726A>T (p.Glu2909Val)
c.6098A>T (p.Glu2033Val)
c.5147A>T (p.Glu1716Val)
15g.28141466T>CCA391380993HERC2c.11981A>G (p.Glu3994Gly)
c.3692A>G (p.Glu1231Gly)
c.11867A>G (p.Glu3956Gly)
c.11966A>G (p.Glu3989Gly)
c.11723A>G (p.Glu3908Gly)
c.11498A>G (p.Glu3833Gly)
c.9497A>G (p.Glu3166Gly)
c.8726A>G (p.Glu2909Gly)
c.6098A>G (p.Glu2033Gly)
c.5147A>G (p.Glu1716Gly)
15g.28141466T>GCA391380995HERC2c.11981A>C (p.Glu3994Ala)
c.3692A>C (p.Glu1231Ala)
c.11867A>C (p.Glu3956Ala)
c.11966A>C (p.Glu3989Ala)
c.11723A>C (p.Glu3908Ala)
c.11498A>C (p.Glu3833Ala)
c.9497A>C (p.Glu3166Ala)
c.8726A>C (p.Glu2909Ala)
c.6098A>C (p.Glu2033Ala)
c.5147A>C (p.Glu1716Ala)
 ClinVar dbSNP
15g.28141467C>ACA391381001HERC2c.11980G>T (p.Glu3994Ter)
c.3691G>T (p.Glu1231Ter)
c.11866G>T (p.Glu3956Ter)
c.11965G>T (p.Glu3989Ter)
c.11722G>T (p.Glu3908Ter)
c.11497G>T (p.Glu3833Ter)
c.9496G>T (p.Glu3166Ter)
c.8725G>T (p.Glu2909Ter)
c.6097G>T (p.Glu2033Ter)
c.5146G>T (p.Glu1716Ter)
15g.28141467C=CA2166479837HERC2c.11980G= (p.Glu3994=)
c.3691G= (p.Glu1231=)
c.11866G= (p.Glu3956=)
c.11965G= (p.Glu3989=)
c.11722G= (p.Glu3908=)
c.11497G= (p.Glu3833=)
c.9496G= (p.Glu3166=)
c.8725G= (p.Glu2909=)
c.6097G= (p.Glu2033=)
c.5146G= (p.Glu1716=)
15g.28141467C>GCA391381004HERC2c.11980G>C (p.Glu3994Gln)
c.3691G>C (p.Glu1231Gln)
c.11866G>C (p.Glu3956Gln)
c.11965G>C (p.Glu3989Gln)
c.11722G>C (p.Glu3908Gln)
c.11497G>C (p.Glu3833Gln)
c.9496G>C (p.Glu3166Gln)
c.8725G>C (p.Glu2909Gln)
c.6097G>C (p.Glu2033Gln)
c.5146G>C (p.Glu1716Gln)
15g.28141467C>TCA267946052HERC2c.11980G>A (p.Glu3994Lys)
c.3691G>A (p.Glu1231Lys)
c.11866G>A (p.Glu3956Lys)
c.11965G>A (p.Glu3989Lys)
c.11722G>A (p.Glu3908Lys)
c.11497G>A (p.Glu3833Lys)
c.9496G>A (p.Glu3166Lys)
c.8725G>A (p.Glu2909Lys)
c.6097G>A (p.Glu2033Lys)
c.5146G>A (p.Glu1716Lys)
 dbSNP
15g.28141468C>ACA489234667HERC2c.11979G>T (p.Gly3993=)
c.3690G>T (p.Gly1230=)
c.11865G>T (p.Gly3955=)
c.11964G>T (p.Gly3988=)
c.11721G>T (p.Gly3907=)
c.11496G>T (p.Gly3832=)
c.9495G>T (p.Gly3165=)
c.8724G>T (p.Gly2908=)
c.6096G>T (p.Gly2032=)
c.5145G>T (p.Gly1715=)
15g.28141468C>GCA489234668HERC2c.11979G>C (p.Gly3993=)
c.3690G>C (p.Gly1230=)
c.11865G>C (p.Gly3955=)
c.11964G>C (p.Gly3988=)
c.11721G>C (p.Gly3907=)
c.11496G>C (p.Gly3832=)
c.9495G>C (p.Gly3165=)
c.8724G>C (p.Gly2908=)
c.6096G>C (p.Gly2032=)
c.5145G>C (p.Gly1715=)
15g.28141468C>TCA489234669HERC2c.11979G>A (p.Gly3993=)
c.3690G>A (p.Gly1230=)
c.11865G>A (p.Gly3955=)
c.11964G>A (p.Gly3988=)
c.11721G>A (p.Gly3907=)
c.11496G>A (p.Gly3832=)
c.9495G>A (p.Gly3165=)
c.8724G>A (p.Gly2908=)
c.6096G>A (p.Gly2032=)
c.5145G>A (p.Gly1715=)
15g.28141469C>ACA391381009HERC2c.11978G>T (p.Gly3993Val)
c.3689G>T (p.Gly1230Val)
c.11864G>T (p.Gly3955Val)
c.11963G>T (p.Gly3988Val)
c.11720G>T (p.Gly3907Val)
c.11495G>T (p.Gly3832Val)
c.9494G>T (p.Gly3165Val)
c.8723G>T (p.Gly2908Val)
c.6095G>T (p.Gly2032Val)
c.5144G>T (p.Gly1715Val)
15g.28141469C=CA2166479839HERC2c.11978G= (p.Gly3993=)
c.3689G= (p.Gly1230=)
c.11864G= (p.Gly3955=)
c.11963G= (p.Gly3988=)
c.11720G= (p.Gly3907=)
c.11495G= (p.Gly3832=)
c.9494G= (p.Gly3165=)
c.8723G= (p.Gly2908=)
c.6095G= (p.Gly2032=)
c.5144G= (p.Gly1715=)
15g.28141469C>GCA391381013HERC2c.11978G>C (p.Gly3993Ala)
c.3689G>C (p.Gly1230Ala)
c.11864G>C (p.Gly3955Ala)
c.11963G>C (p.Gly3988Ala)
c.11720G>C (p.Gly3907Ala)
c.11495G>C (p.Gly3832Ala)
c.9494G>C (p.Gly3165Ala)
c.8723G>C (p.Gly2908Ala)
c.6095G>C (p.Gly2032Ala)
c.5144G>C (p.Gly1715Ala)
15g.28141469C>TCA391381015HERC2c.11978G>A (p.Gly3993Glu)
c.3689G>A (p.Gly1230Glu)
c.11864G>A (p.Gly3955Glu)
c.11963G>A (p.Gly3988Glu)
c.11720G>A (p.Gly3907Glu)
c.11495G>A (p.Gly3832Glu)
c.9494G>A (p.Gly3165Glu)
c.8723G>A (p.Gly2908Glu)
c.6095G>A (p.Gly2032Glu)
c.5144G>A (p.Gly1715Glu)
 dbSNP gnomAD v2 gnomAD v4
15g.28141470C>ACA391381022HERC2c.11977G>T (p.Gly3993Trp)
c.3688G>T (p.Gly1230Trp)
c.11863G>T (p.Gly3955Trp)
c.11962G>T (p.Gly3988Trp)
c.11719G>T (p.Gly3907Trp)
c.11494G>T (p.Gly3832Trp)
c.9493G>T (p.Gly3165Trp)
c.8722G>T (p.Gly2908Trp)
c.6094G>T (p.Gly2032Trp)
c.5143G>T (p.Gly1715Trp)
15g.28141470C>GCA391381024HERC2c.11977G>C (p.Gly3993Arg)
c.3688G>C (p.Gly1230Arg)
c.11863G>C (p.Gly3955Arg)
c.11962G>C (p.Gly3988Arg)
c.11719G>C (p.Gly3907Arg)
c.11494G>C (p.Gly3832Arg)
c.9493G>C (p.Gly3165Arg)
c.8722G>C (p.Gly2908Arg)
c.6094G>C (p.Gly2032Arg)
c.5143G>C (p.Gly1715Arg)
15g.28141470C>TCA391381019HERC2c.11977G>A (p.Gly3993Arg)
c.3688G>A (p.Gly1230Arg)
c.11863G>A (p.Gly3955Arg)
c.11962G>A (p.Gly3988Arg)
c.11719G>A (p.Gly3907Arg)
c.11494G>A (p.Gly3832Arg)
c.9493G>A (p.Gly3165Arg)
c.8722G>A (p.Gly2908Arg)
c.6094G>A (p.Gly2032Arg)
c.5143G>A (p.Gly1715Arg)
15g.28141471T>ACA489234670HERC2c.11976A>T (p.Gly3992=)
c.3687A>T (p.Gly1229=)
c.11862A>T (p.Gly3954=)
c.11961A>T (p.Gly3987=)
c.11718A>T (p.Gly3906=)
c.11493A>T (p.Gly3831=)
c.9492A>T (p.Gly3164=)
c.8721A>T (p.Gly2907=)
c.6093A>T (p.Gly2031=)
c.5142A>T (p.Gly1714=)
15g.28141471T>CCA489234671HERC2c.11976A>G (p.Gly3992=)
c.3687A>G (p.Gly1229=)
c.11862A>G (p.Gly3954=)
c.11961A>G (p.Gly3987=)
c.11718A>G (p.Gly3906=)
c.11493A>G (p.Gly3831=)
c.9492A>G (p.Gly3164=)
c.8721A>G (p.Gly2907=)
c.6093A>G (p.Gly2031=)
c.5142A>G (p.Gly1714=)
 gnomAD v4
15g.28141471T>GCA489234672HERC2c.11976A>C (p.Gly3992=)
c.3687A>C (p.Gly1229=)
c.11862A>C (p.Gly3954=)
c.11961A>C (p.Gly3987=)
c.11718A>C (p.Gly3906=)
c.11493A>C (p.Gly3831=)
c.9492A>C (p.Gly3164=)
c.8721A>C (p.Gly2907=)
c.6093A>C (p.Gly2031=)
c.5142A>C (p.Gly1714=)
15g.28141472C>ACA391381027HERC2c.11975G>T (p.Gly3992Val)
c.3686G>T (p.Gly1229Val)
c.11861G>T (p.Gly3954Val)
c.11960G>T (p.Gly3987Val)
c.11717G>T (p.Gly3906Val)
c.11492G>T (p.Gly3831Val)
c.9491G>T (p.Gly3164Val)
c.8720G>T (p.Gly2907Val)
c.6092G>T (p.Gly2031Val)
c.5141G>T (p.Gly1714Val)
15g.28141472C>GCA391381029HERC2c.11975G>C (p.Gly3992Ala)
c.3686G>C (p.Gly1229Ala)
c.11861G>C (p.Gly3954Ala)
c.11960G>C (p.Gly3987Ala)
c.11717G>C (p.Gly3906Ala)
c.11492G>C (p.Gly3831Ala)
c.9491G>C (p.Gly3164Ala)
c.8720G>C (p.Gly2907Ala)
c.6092G>C (p.Gly2031Ala)
c.5141G>C (p.Gly1714Ala)
15g.28141472C>TCA391381032HERC2c.11975G>A (p.Gly3992Glu)
c.3686G>A (p.Gly1229Glu)
c.11861G>A (p.Gly3954Glu)
c.11960G>A (p.Gly3987Glu)
c.11717G>A (p.Gly3906Glu)
c.11492G>A (p.Gly3831Glu)
c.9491G>A (p.Gly3164Glu)
c.8720G>A (p.Gly2907Glu)
c.6092G>A (p.Gly2031Glu)
c.5141G>A (p.Gly1714Glu)
15g.28141473C>ACA391381035HERC2c.11974G>T (p.Gly3992Ter)
c.3685G>T (p.Gly1229Ter)
c.11860G>T (p.Gly3954Ter)
c.11959G>T (p.Gly3987Ter)
c.11716G>T (p.Gly3906Ter)
c.11491G>T (p.Gly3831Ter)
c.9490G>T (p.Gly3164Ter)
c.8719G>T (p.Gly2907Ter)
c.6091G>T (p.Gly2031Ter)
c.5140G>T (p.Gly1714Ter)
15g.28141473C=CA2166479841HERC2c.11974G= (p.Gly3992=)
c.3685G= (p.Gly1229=)
c.11860G= (p.Gly3954=)
c.11959G= (p.Gly3987=)
c.11716G= (p.Gly3906=)
c.11491G= (p.Gly3831=)
c.9490G= (p.Gly3164=)
c.8719G= (p.Gly2907=)
c.6091G= (p.Gly2031=)
c.5140G= (p.Gly1714=)
15g.28141473C>GCA391381036HERC2c.11974G>C (p.Gly3992Arg)
c.3685G>C (p.Gly1229Arg)
c.11860G>C (p.Gly3954Arg)
c.11959G>C (p.Gly3987Arg)
c.11716G>C (p.Gly3906Arg)
c.11491G>C (p.Gly3831Arg)
c.9490G>C (p.Gly3164Arg)
c.8719G>C (p.Gly2907Arg)
c.6091G>C (p.Gly2031Arg)
c.5140G>C (p.Gly1714Arg)
15g.28141473C>TCA391381039HERC2c.11974G>A (p.Gly3992Arg)
c.3685G>A (p.Gly1229Arg)
c.11860G>A (p.Gly3954Arg)
c.11959G>A (p.Gly3987Arg)
c.11716G>A (p.Gly3906Arg)
c.11491G>A (p.Gly3831Arg)
c.9490G>A (p.Gly3164Arg)
c.8719G>A (p.Gly2907Arg)
c.6091G>A (p.Gly2031Arg)
c.5140G>A (p.Gly1714Arg)
 dbSNP gnomAD v4
15g.28141474G>ACA7440423HERC2c.11973C>T (p.Ile3991=)
c.3684C>T (p.Ile1228=)
c.11859C>T (p.Ile3953=)
c.11958C>T (p.Ile3986=)
c.11715C>T (p.Ile3905=)
c.11490C>T (p.Ile3830=)
c.9489C>T (p.Ile3163=)
c.8718C>T (p.Ile2906=)
c.6090C>T (p.Ile2030=)
c.5139C>T (p.Ile1713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141474G>CCA391381045HERC2c.11973C>G (p.Ile3991Met)
c.3684C>G (p.Ile1228Met)
c.11859C>G (p.Ile3953Met)
c.11958C>G (p.Ile3986Met)
c.11715C>G (p.Ile3905Met)
c.11490C>G (p.Ile3830Met)
c.9489C>G (p.Ile3163Met)
c.8718C>G (p.Ile2906Met)
c.6090C>G (p.Ile2030Met)
c.5139C>G (p.Ile1713Met)
15g.28141474G=CA2166479843HERC2c.11973C= (p.Ile3991=)
c.3684C= (p.Ile1228=)
c.11859C= (p.Ile3953=)
c.11958C= (p.Ile3986=)
c.11715C= (p.Ile3905=)
c.11490C= (p.Ile3830=)
c.9489C= (p.Ile3163=)
c.8718C= (p.Ile2906=)
c.6090C= (p.Ile2030=)
c.5139C= (p.Ile1713=)
15g.28141474G>TCA489234674HERC2c.11973C>A (p.Ile3991=)
c.3684C>A (p.Ile1228=)
c.11859C>A (p.Ile3953=)
c.11958C>A (p.Ile3986=)
c.11715C>A (p.Ile3905=)
c.11490C>A (p.Ile3830=)
c.9489C>A (p.Ile3163=)
c.8718C>A (p.Ile2906=)
c.6090C>A (p.Ile2030=)
c.5139C>A (p.Ile1713=)
 COSMIC COSMIC
15g.28141475A>CCA391381047HERC2c.11972T>G (p.Ile3991Ser)
c.3683T>G (p.Ile1228Ser)
c.11858T>G (p.Ile3953Ser)
c.11957T>G (p.Ile3986Ser)
c.11714T>G (p.Ile3905Ser)
c.11489T>G (p.Ile3830Ser)
c.9488T>G (p.Ile3163Ser)
c.8717T>G (p.Ile2906Ser)
c.6089T>G (p.Ile2030Ser)
c.5138T>G (p.Ile1713Ser)
15g.28141475A>GCA391381052HERC2c.11972T>C (p.Ile3991Thr)
c.3683T>C (p.Ile1228Thr)
c.11858T>C (p.Ile3953Thr)
c.11957T>C (p.Ile3986Thr)
c.11714T>C (p.Ile3905Thr)
c.11489T>C (p.Ile3830Thr)
c.9488T>C (p.Ile3163Thr)
c.8717T>C (p.Ile2906Thr)
c.6089T>C (p.Ile2030Thr)
c.5138T>C (p.Ile1713Thr)
15g.28141475A>TCA391381053HERC2c.11972T>A (p.Ile3991Asn)
c.3683T>A (p.Ile1228Asn)
c.11858T>A (p.Ile3953Asn)
c.11957T>A (p.Ile3986Asn)
c.11714T>A (p.Ile3905Asn)
c.11489T>A (p.Ile3830Asn)
c.9488T>A (p.Ile3163Asn)
c.8717T>A (p.Ile2906Asn)
c.6089T>A (p.Ile2030Asn)
c.5138T>A (p.Ile1713Asn)
15g.28141476T>ACA391381059HERC2c.11971A>T (p.Ile3991Phe)
c.3682A>T (p.Ile1228Phe)
c.11857A>T (p.Ile3953Phe)
c.11956A>T (p.Ile3986Phe)
c.11713A>T (p.Ile3905Phe)
c.11488A>T (p.Ile3830Phe)
c.9487A>T (p.Ile3163Phe)
c.8716A>T (p.Ile2906Phe)
c.6088A>T (p.Ile2030Phe)
c.5137A>T (p.Ile1713Phe)
15g.28141476T>CCA391381057HERC2c.11971A>G (p.Ile3991Val)
c.3682A>G (p.Ile1228Val)
c.11857A>G (p.Ile3953Val)
c.11956A>G (p.Ile3986Val)
c.11713A>G (p.Ile3905Val)
c.11488A>G (p.Ile3830Val)
c.9487A>G (p.Ile3163Val)
c.8716A>G (p.Ile2906Val)
c.6088A>G (p.Ile2030Val)
c.5137A>G (p.Ile1713Val)
15g.28141476T>GCA391381055HERC2c.11971A>C (p.Ile3991Leu)
c.3682A>C (p.Ile1228Leu)
c.11857A>C (p.Ile3953Leu)
c.11956A>C (p.Ile3986Leu)
c.11713A>C (p.Ile3905Leu)
c.11488A>C (p.Ile3830Leu)
c.9487A>C (p.Ile3163Leu)
c.8716A>C (p.Ile2906Leu)
c.6088A>C (p.Ile2030Leu)
c.5137A>C (p.Ile1713Leu)
15g.28141477T>ACA391381062HERC2c.11970A>T (p.Leu3990Phe)
c.3681A>T (p.Leu1227Phe)
c.11856A>T (p.Leu3952Phe)
c.11955A>T (p.Leu3985Phe)
c.11712A>T (p.Leu3904Phe)
c.11487A>T (p.Leu3829Phe)
c.9486A>T (p.Leu3162Phe)
c.8715A>T (p.Leu2905Phe)
c.6087A>T (p.Leu2029Phe)
c.5136A>T (p.Leu1712Phe)
15g.28141477T>CCA489234678HERC2c.11970A>G (p.Leu3990=)
c.3681A>G (p.Leu1227=)
c.11856A>G (p.Leu3952=)
c.11955A>G (p.Leu3985=)
c.11712A>G (p.Leu3904=)
c.11487A>G (p.Leu3829=)
c.9486A>G (p.Leu3162=)
c.8715A>G (p.Leu2905=)
c.6087A>G (p.Leu2029=)
c.5136A>G (p.Leu1712=)
15g.28141477T>GCA391381063HERC2c.11970A>C (p.Leu3990Phe)
c.3681A>C (p.Leu1227Phe)
c.11856A>C (p.Leu3952Phe)
c.11955A>C (p.Leu3985Phe)
c.11712A>C (p.Leu3904Phe)
c.11487A>C (p.Leu3829Phe)
c.9486A>C (p.Leu3162Phe)
c.8715A>C (p.Leu2905Phe)
c.6087A>C (p.Leu2029Phe)
c.5136A>C (p.Leu1712Phe)
15g.28141478A>CCA391381066HERC2c.11969T>G (p.Leu3990Ter)
c.3680T>G (p.Leu1227Ter)
c.11855T>G (p.Leu3952Ter)
c.11954T>G (p.Leu3985Ter)
c.11711T>G (p.Leu3904Ter)
c.11486T>G (p.Leu3829Ter)
c.9485T>G (p.Leu3162Ter)
c.8714T>G (p.Leu2905Ter)
c.6086T>G (p.Leu2029Ter)
c.5135T>G (p.Leu1712Ter)
15g.28141478A>GCA391381068HERC2c.11969T>C (p.Leu3990Ser)
c.3680T>C (p.Leu1227Ser)
c.11855T>C (p.Leu3952Ser)
c.11954T>C (p.Leu3985Ser)
c.11711T>C (p.Leu3904Ser)
c.11486T>C (p.Leu3829Ser)
c.9485T>C (p.Leu3162Ser)
c.8714T>C (p.Leu2905Ser)
c.6086T>C (p.Leu2029Ser)
c.5135T>C (p.Leu1712Ser)
15g.28141478A>TCA391381070HERC2c.11969T>A (p.Leu3990Ter)
c.3680T>A (p.Leu1227Ter)
c.11855T>A (p.Leu3952Ter)
c.11954T>A (p.Leu3985Ter)
c.11711T>A (p.Leu3904Ter)
c.11486T>A (p.Leu3829Ter)
c.9485T>A (p.Leu3162Ter)
c.8714T>A (p.Leu2905Ter)
c.6086T>A (p.Leu2029Ter)
c.5135T>A (p.Leu1712Ter)
15g.28141479A>CCA391381073HERC2c.11968T>G (p.Leu3990Val)
c.3679T>G (p.Leu1227Val)
c.11854T>G (p.Leu3952Val)
c.11953T>G (p.Leu3985Val)
c.11710T>G (p.Leu3904Val)
c.11485T>G (p.Leu3829Val)
c.9484T>G (p.Leu3162Val)
c.8713T>G (p.Leu2905Val)
c.6085T>G (p.Leu2029Val)
c.5134T>G (p.Leu1712Val)
15g.28141479A>GCA489234680HERC2c.11968T>C (p.Leu3990=)
c.3679T>C (p.Leu1227=)
c.11854T>C (p.Leu3952=)
c.11953T>C (p.Leu3985=)
c.11710T>C (p.Leu3904=)
c.11485T>C (p.Leu3829=)
c.9484T>C (p.Leu3162=)
c.8713T>C (p.Leu2905=)
c.6085T>C (p.Leu2029=)
c.5134T>C (p.Leu1712=)
15g.28141479A>TCA391381076HERC2c.11968T>A (p.Leu3990Ile)
c.3679T>A (p.Leu1227Ile)
c.11854T>A (p.Leu3952Ile)
c.11953T>A (p.Leu3985Ile)
c.11710T>A (p.Leu3904Ile)
c.11485T>A (p.Leu3829Ile)
c.9484T>A (p.Leu3162Ile)
c.8713T>A (p.Leu2905Ile)
c.6085T>A (p.Leu2029Ile)
c.5134T>A (p.Leu1712Ile)
15g.28141480C>ACA391381079HERC2c.11967G>T (p.Gln3989His)
c.3678G>T (p.Gln1226His)
c.11853G>T (p.Gln3951His)
c.11952G>T (p.Gln3984His)
c.11709G>T (p.Gln3903His)
c.11484G>T (p.Gln3828His)
c.9483G>T (p.Gln3161His)
c.8712G>T (p.Gln2904His)
c.6084G>T (p.Gln2028His)
c.5133G>T (p.Gln1711His)
15g.28141480C=CA2166479845HERC2c.11967G= (p.Gln3989=)
c.3678G= (p.Gln1226=)
c.11853G= (p.Gln3951=)
c.11952G= (p.Gln3984=)
c.11709G= (p.Gln3903=)
c.11484G= (p.Gln3828=)
c.9483G= (p.Gln3161=)
c.8712G= (p.Gln2904=)
c.6084G= (p.Gln2028=)
c.5133G= (p.Gln1711=)
15g.28141480C>GCA391381081HERC2c.11967G>C (p.Gln3989His)
c.3678G>C (p.Gln1226His)
c.11853G>C (p.Gln3951His)
c.11952G>C (p.Gln3984His)
c.11709G>C (p.Gln3903His)
c.11484G>C (p.Gln3828His)
c.9483G>C (p.Gln3161His)
c.8712G>C (p.Gln2904His)
c.6084G>C (p.Gln2028His)
c.5133G>C (p.Gln1711His)
15g.28141480C>TCA7440424HERC2c.11967G>A (p.Gln3989=)
c.3678G>A (p.Gln1226=)
c.11853G>A (p.Gln3951=)
c.11952G>A (p.Gln3984=)
c.11709G>A (p.Gln3903=)
c.11484G>A (p.Gln3828=)
c.9483G>A (p.Gln3161=)
c.8712G>A (p.Gln2904=)
c.6084G>A (p.Gln2028=)
c.5133G>A (p.Gln1711=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141481T>ACA391381087HERC2c.11966A>T (p.Gln3989Leu)
c.3677A>T (p.Gln1226Leu)
c.11852A>T (p.Gln3951Leu)
c.11951A>T (p.Gln3984Leu)
c.11708A>T (p.Gln3903Leu)
c.11483A>T (p.Gln3828Leu)
c.9482A>T (p.Gln3161Leu)
c.8711A>T (p.Gln2904Leu)
c.6083A>T (p.Gln2028Leu)
c.5132A>T (p.Gln1711Leu)
15g.28141481T>CCA391381089HERC2c.11966A>G (p.Gln3989Arg)
c.3677A>G (p.Gln1226Arg)
c.11852A>G (p.Gln3951Arg)
c.11951A>G (p.Gln3984Arg)
c.11708A>G (p.Gln3903Arg)
c.11483A>G (p.Gln3828Arg)
c.9482A>G (p.Gln3161Arg)
c.8711A>G (p.Gln2904Arg)
c.6083A>G (p.Gln2028Arg)
c.5132A>G (p.Gln1711Arg)
 gnomAD v4
15g.28141481T>GCA391381090HERC2c.11966A>C (p.Gln3989Pro)
c.3677A>C (p.Gln1226Pro)
c.11852A>C (p.Gln3951Pro)
c.11951A>C (p.Gln3984Pro)
c.11708A>C (p.Gln3903Pro)
c.11483A>C (p.Gln3828Pro)
c.9482A>C (p.Gln3161Pro)
c.8711A>C (p.Gln2904Pro)
c.6083A>C (p.Gln2028Pro)
c.5132A>C (p.Gln1711Pro)
15g.28141482G>ACA391381094HERC2c.11965C>T (p.Gln3989Ter)
c.3676C>T (p.Gln1226Ter)
c.11851C>T (p.Gln3951Ter)
c.11950C>T (p.Gln3984Ter)
c.11707C>T (p.Gln3903Ter)
c.11482C>T (p.Gln3828Ter)
c.9481C>T (p.Gln3161Ter)
c.8710C>T (p.Gln2904Ter)
c.6082C>T (p.Gln2028Ter)
c.5131C>T (p.Gln1711Ter)
15g.28141482G>CCA391381100HERC2c.11965C>G (p.Gln3989Glu)
c.3676C>G (p.Gln1226Glu)
c.11851C>G (p.Gln3951Glu)
c.11950C>G (p.Gln3984Glu)
c.11707C>G (p.Gln3903Glu)
c.11482C>G (p.Gln3828Glu)
c.9481C>G (p.Gln3161Glu)
c.8710C>G (p.Gln2904Glu)
c.6082C>G (p.Gln2028Glu)
c.5131C>G (p.Gln1711Glu)
15g.28141482G>TCA391381093HERC2c.11965C>A (p.Gln3989Lys)
c.3676C>A (p.Gln1226Lys)
c.11851C>A (p.Gln3951Lys)
c.11950C>A (p.Gln3984Lys)
c.11707C>A (p.Gln3903Lys)
c.11482C>A (p.Gln3828Lys)
c.9481C>A (p.Gln3161Lys)
c.8710C>A (p.Gln2904Lys)
c.6082C>A (p.Gln2028Lys)
c.5131C>A (p.Gln1711Lys)
15g.28141483C>ACA489234684HERC2c.11964G>T (p.Val3988=)
c.3675G>T (p.Val1225=)
c.11850G>T (p.Val3950=)
c.11949G>T (p.Val3983=)
c.11706G>T (p.Val3902=)
c.11481G>T (p.Val3827=)
c.9480G>T (p.Val3160=)
c.8709G>T (p.Val2903=)
c.6081G>T (p.Val2027=)
c.5130G>T (p.Val1710=)
15g.28141483C>GCA489234685HERC2c.11964G>C (p.Val3988=)
c.3675G>C (p.Val1225=)
c.11850G>C (p.Val3950=)
c.11949G>C (p.Val3983=)
c.11706G>C (p.Val3902=)
c.11481G>C (p.Val3827=)
c.9480G>C (p.Val3160=)
c.8709G>C (p.Val2903=)
c.6081G>C (p.Val2027=)
c.5130G>C (p.Val1710=)
15g.28141483C>TCA489234683HERC2c.11964G>A (p.Val3988=)
c.3675G>A (p.Val1225=)
c.11850G>A (p.Val3950=)
c.11949G>A (p.Val3983=)
c.11706G>A (p.Val3902=)
c.11481G>A (p.Val3827=)
c.9480G>A (p.Val3160=)
c.8709G>A (p.Val2903=)
c.6081G>A (p.Val2027=)
c.5130G>A (p.Val1710=)
15g.28141484A=CA2166479846HERC2c.11963T= (p.Val3988=)
c.3674T= (p.Val1225=)
c.11849T= (p.Val3950=)
c.11948T= (p.Val3983=)
c.11705T= (p.Val3902=)
c.11480T= (p.Val3827=)
c.9479T= (p.Val3160=)
c.8708T= (p.Val2903=)
c.6080T= (p.Val2027=)
c.5129T= (p.Val1710=)
15g.28141484A>CCA391381109HERC2c.11963T>G (p.Val3988Gly)
c.3674T>G (p.Val1225Gly)
c.11849T>G (p.Val3950Gly)
c.11948T>G (p.Val3983Gly)
c.11705T>G (p.Val3902Gly)
c.11480T>G (p.Val3827Gly)
c.9479T>G (p.Val3160Gly)
c.8708T>G (p.Val2903Gly)
c.6080T>G (p.Val2027Gly)
c.5129T>G (p.Val1710Gly)
15g.28141484A>GCA7440425HERC2c.11963T>C (p.Val3988Ala)
c.3674T>C (p.Val1225Ala)
c.11849T>C (p.Val3950Ala)
c.11948T>C (p.Val3983Ala)
c.11705T>C (p.Val3902Ala)
c.11480T>C (p.Val3827Ala)
c.9479T>C (p.Val3160Ala)
c.8708T>C (p.Val2903Ala)
c.6080T>C (p.Val2027Ala)
c.5129T>C (p.Val1710Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141484A>TCA391381106HERC2c.11963T>A (p.Val3988Glu)
c.3674T>A (p.Val1225Glu)
c.11849T>A (p.Val3950Glu)
c.11948T>A (p.Val3983Glu)
c.11705T>A (p.Val3902Glu)
c.11480T>A (p.Val3827Glu)
c.9479T>A (p.Val3160Glu)
c.8708T>A (p.Val2903Glu)
c.6080T>A (p.Val2027Glu)
c.5129T>A (p.Val1710Glu)
15g.28141485C>ACA391381112HERC2c.11962G>T (p.Val3988Leu)
c.3673G>T (p.Val1225Leu)
c.11848G>T (p.Val3950Leu)
c.11947G>T (p.Val3983Leu)
c.11704G>T (p.Val3902Leu)
c.11479G>T (p.Val3827Leu)
c.9478G>T (p.Val3160Leu)
c.8707G>T (p.Val2903Leu)
c.6079G>T (p.Val2027Leu)
c.5128G>T (p.Val1710Leu)
15g.28141485C=CA2166479849HERC2c.11962G= (p.Val3988=)
c.3673G= (p.Val1225=)
c.11848G= (p.Val3950=)
c.11947G= (p.Val3983=)
c.11704G= (p.Val3902=)
c.11479G= (p.Val3827=)
c.9478G= (p.Val3160=)
c.8707G= (p.Val2903=)
c.6079G= (p.Val2027=)
c.5128G= (p.Val1710=)
15g.28141485C>GCA391381114HERC2c.11962G>C (p.Val3988Leu)
c.3673G>C (p.Val1225Leu)
c.11848G>C (p.Val3950Leu)
c.11947G>C (p.Val3983Leu)
c.11704G>C (p.Val3902Leu)
c.11479G>C (p.Val3827Leu)
c.9478G>C (p.Val3160Leu)
c.8707G>C (p.Val2903Leu)
c.6079G>C (p.Val2027Leu)
c.5128G>C (p.Val1710Leu)
 gnomAD v4
15g.28141485C>TCA7440426HERC2c.11962G>A (p.Val3988Met)
c.3673G>A (p.Val1225Met)
c.11848G>A (p.Val3950Met)
c.11947G>A (p.Val3983Met)
c.11704G>A (p.Val3902Met)
c.11479G>A (p.Val3827Met)
c.9478G>A (p.Val3160Met)
c.8707G>A (p.Val2903Met)
c.6079G>A (p.Val2027Met)
c.5128G>A (p.Val1710Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141486G>ACA7440427HERC2c.11961C>T (p.Pro3987=)
c.3672C>T (p.Pro1224=)
c.11847C>T (p.Pro3949=)
c.11946C>T (p.Pro3982=)
c.11703C>T (p.Pro3901=)
c.11478C>T (p.Pro3826=)
c.9477C>T (p.Pro3159=)
c.8706C>T (p.Pro2902=)
c.6078C>T (p.Pro2026=)
c.5127C>T (p.Pro1709=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141486G>CCA489234689HERC2c.11961C>G (p.Pro3987=)
c.3672C>G (p.Pro1224=)
c.11847C>G (p.Pro3949=)
c.11946C>G (p.Pro3982=)
c.11703C>G (p.Pro3901=)
c.11478C>G (p.Pro3826=)
c.9477C>G (p.Pro3159=)
c.8706C>G (p.Pro2902=)
c.6078C>G (p.Pro2026=)
c.5127C>G (p.Pro1709=)
15g.28141486G=CA2166479850HERC2c.11961C= (p.Pro3987=)
c.3672C= (p.Pro1224=)
c.11847C= (p.Pro3949=)
c.11946C= (p.Pro3982=)
c.11703C= (p.Pro3901=)
c.11478C= (p.Pro3826=)
c.9477C= (p.Pro3159=)
c.8706C= (p.Pro2902=)
c.6078C= (p.Pro2026=)
c.5127C= (p.Pro1709=)
15g.28141486G>TCA489234690HERC2c.11961C>A (p.Pro3987=)
c.3672C>A (p.Pro1224=)
c.11847C>A (p.Pro3949=)
c.11946C>A (p.Pro3982=)
c.11703C>A (p.Pro3901=)
c.11478C>A (p.Pro3826=)
c.9477C>A (p.Pro3159=)
c.8706C>A (p.Pro2902=)
c.6078C>A (p.Pro2026=)
c.5127C>A (p.Pro1709=)
15g.28141487G>ACA391381120HERC2c.11960C>T (p.Pro3987Leu)
c.3671C>T (p.Pro1224Leu)
c.11846C>T (p.Pro3949Leu)
c.11945C>T (p.Pro3982Leu)
c.11702C>T (p.Pro3901Leu)
c.11477C>T (p.Pro3826Leu)
c.9476C>T (p.Pro3159Leu)
c.8705C>T (p.Pro2902Leu)
c.6077C>T (p.Pro2026Leu)
c.5126C>T (p.Pro1709Leu)
15g.28141487G>CCA391381122HERC2c.11960C>G (p.Pro3987Arg)
c.3671C>G (p.Pro1224Arg)
c.11846C>G (p.Pro3949Arg)
c.11945C>G (p.Pro3982Arg)
c.11702C>G (p.Pro3901Arg)
c.11477C>G (p.Pro3826Arg)
c.9476C>G (p.Pro3159Arg)
c.8705C>G (p.Pro2902Arg)
c.6077C>G (p.Pro2026Arg)
c.5126C>G (p.Pro1709Arg)
15g.28141487G>TCA391381125HERC2c.11960C>A (p.Pro3987His)
c.3671C>A (p.Pro1224His)
c.11846C>A (p.Pro3949His)
c.11945C>A (p.Pro3982His)
c.11702C>A (p.Pro3901His)
c.11477C>A (p.Pro3826His)
c.9476C>A (p.Pro3159His)
c.8705C>A (p.Pro2902His)
c.6077C>A (p.Pro2026His)
c.5126C>A (p.Pro1709His)
15g.28141488G>ACA391381126HERC2c.11959C>T (p.Pro3987Ser)
c.3670C>T (p.Pro1224Ser)
c.11845C>T (p.Pro3949Ser)
c.11944C>T (p.Pro3982Ser)
c.11701C>T (p.Pro3901Ser)
c.11476C>T (p.Pro3826Ser)
c.9475C>T (p.Pro3159Ser)
c.8704C>T (p.Pro2902Ser)
c.6076C>T (p.Pro2026Ser)
c.5125C>T (p.Pro1709Ser)
15g.28141488G>CCA391381129HERC2c.11959C>G (p.Pro3987Ala)
c.3670C>G (p.Pro1224Ala)
c.11845C>G (p.Pro3949Ala)
c.11944C>G (p.Pro3982Ala)
c.11701C>G (p.Pro3901Ala)
c.11476C>G (p.Pro3826Ala)
c.9475C>G (p.Pro3159Ala)
c.8704C>G (p.Pro2902Ala)
c.6076C>G (p.Pro2026Ala)
c.5125C>G (p.Pro1709Ala)
15g.28141488G=CA2166479852HERC2c.11959C= (p.Pro3987=)
c.3670C= (p.Pro1224=)
c.11845C= (p.Pro3949=)
c.11944C= (p.Pro3982=)
c.11701C= (p.Pro3901=)
c.11476C= (p.Pro3826=)
c.9475C= (p.Pro3159=)
c.8704C= (p.Pro2902=)
c.6076C= (p.Pro2026=)
c.5125C= (p.Pro1709=)
15g.28141488G>TCA391381132HERC2c.11959C>A (p.Pro3987Thr)
c.3670C>A (p.Pro1224Thr)
c.11845C>A (p.Pro3949Thr)
c.11944C>A (p.Pro3982Thr)
c.11701C>A (p.Pro3901Thr)
c.11476C>A (p.Pro3826Thr)
c.9475C>A (p.Pro3159Thr)
c.8704C>A (p.Pro2902Thr)
c.6076C>A (p.Pro2026Thr)
c.5125C>A (p.Pro1709Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.28141489T>ACA391381137HERC2c.11958A>T (p.Arg3986Ser)
c.3669A>T (p.Arg1223Ser)
c.11844A>T (p.Arg3948Ser)
c.11943A>T (p.Arg3981Ser)
c.11700A>T (p.Arg3900Ser)
c.11475A>T (p.Arg3825Ser)
c.9474A>T (p.Arg3158Ser)
c.8703A>T (p.Arg2901Ser)
c.6075A>T (p.Arg2025Ser)
c.5124A>T (p.Arg1708Ser)
15g.28141489T>CCA489234691HERC2c.11958A>G (p.Arg3986=)
c.3669A>G (p.Arg1223=)
c.11844A>G (p.Arg3948=)
c.11943A>G (p.Arg3981=)
c.11700A>G (p.Arg3900=)
c.11475A>G (p.Arg3825=)
c.9474A>G (p.Arg3158=)
c.8703A>G (p.Arg2901=)
c.6075A>G (p.Arg2025=)
c.5124A>G (p.Arg1708=)
 gnomAD v4
15g.28141489T>GCA391381134HERC2c.11958A>C (p.Arg3986Ser)
c.3669A>C (p.Arg1223Ser)
c.11844A>C (p.Arg3948Ser)
c.11943A>C (p.Arg3981Ser)
c.11700A>C (p.Arg3900Ser)
c.11475A>C (p.Arg3825Ser)
c.9474A>C (p.Arg3158Ser)
c.8703A>C (p.Arg2901Ser)
c.6075A>C (p.Arg2025Ser)
c.5124A>C (p.Arg1708Ser)
15g.28141490C>ACA391381140HERC2c.11957G>T (p.Arg3986Ile)
c.3668G>T (p.Arg1223Ile)
c.11843G>T (p.Arg3948Ile)
c.11942G>T (p.Arg3981Ile)
c.11699G>T (p.Arg3900Ile)
c.11474G>T (p.Arg3825Ile)
c.9473G>T (p.Arg3158Ile)
c.8702G>T (p.Arg2901Ile)
c.6074G>T (p.Arg2025Ile)
c.5123G>T (p.Arg1708Ile)
15g.28141490C>GCA391381143HERC2c.11957G>C (p.Arg3986Thr)
c.3668G>C (p.Arg1223Thr)
c.11843G>C (p.Arg3948Thr)
c.11942G>C (p.Arg3981Thr)
c.11699G>C (p.Arg3900Thr)
c.11474G>C (p.Arg3825Thr)
c.9473G>C (p.Arg3158Thr)
c.8702G>C (p.Arg2901Thr)
c.6074G>C (p.Arg2025Thr)
c.5123G>C (p.Arg1708Thr)
15g.28141490C>TCA391381145HERC2c.11957G>A (p.Arg3986Lys)
c.3668G>A (p.Arg1223Lys)
c.11843G>A (p.Arg3948Lys)
c.11942G>A (p.Arg3981Lys)
c.11699G>A (p.Arg3900Lys)
c.11474G>A (p.Arg3825Lys)
c.9473G>A (p.Arg3158Lys)
c.8702G>A (p.Arg2901Lys)
c.6074G>A (p.Arg2025Lys)
c.5123G>A (p.Arg1708Lys)
15g.28141491T>ACA391381148HERC2c.11956A>T (p.Arg3986Ter)
c.3667A>T (p.Arg1223Ter)
c.11842A>T (p.Arg3948Ter)
c.11941A>T (p.Arg3981Ter)
c.11698A>T (p.Arg3900Ter)
c.11473A>T (p.Arg3825Ter)
c.9472A>T (p.Arg3158Ter)
c.8701A>T (p.Arg2901Ter)
c.6073A>T (p.Arg2025Ter)
c.5122A>T (p.Arg1708Ter)
15g.28141491T>CCA391381150HERC2c.11956A>G (p.Arg3986Gly)
c.3667A>G (p.Arg1223Gly)
c.11842A>G (p.Arg3948Gly)
c.11941A>G (p.Arg3981Gly)
c.11698A>G (p.Arg3900Gly)
c.11473A>G (p.Arg3825Gly)
c.9472A>G (p.Arg3158Gly)
c.8701A>G (p.Arg2901Gly)
c.6073A>G (p.Arg2025Gly)
c.5122A>G (p.Arg1708Gly)
15g.28141491T>GCA489234693HERC2c.11956A>C (p.Arg3986=)
c.3667A>C (p.Arg1223=)
c.11842A>C (p.Arg3948=)
c.11941A>C (p.Arg3981=)
c.11698A>C (p.Arg3900=)
c.11473A>C (p.Arg3825=)
c.9472A>C (p.Arg3158=)
c.8701A>C (p.Arg2901=)
c.6073A>C (p.Arg2025=)
c.5122A>C (p.Arg1708=)
15g.28141492G>ACA489234694HERC2c.11955C>T (p.Leu3985=)
c.3666C>T (p.Leu1222=)
c.11841C>T (p.Leu3947=)
c.11940C>T (p.Leu3980=)
c.11697C>T (p.Leu3899=)
c.11472C>T (p.Leu3824=)
c.9471C>T (p.Leu3157=)
c.8700C>T (p.Leu2900=)
c.6072C>T (p.Leu2024=)
c.5121C>T (p.Leu1707=)
15g.28141492G>CCA267946076HERC2c.11955C>G (p.Leu3985=)
c.3666C>G (p.Leu1222=)
c.11841C>G (p.Leu3947=)
c.11940C>G (p.Leu3980=)
c.11697C>G (p.Leu3899=)
c.11472C>G (p.Leu3824=)
c.9471C>G (p.Leu3157=)
c.8700C>G (p.Leu2900=)
c.6072C>G (p.Leu2024=)
c.5121C>G (p.Leu1707=)
 dbSNP gnomAD v2 gnomAD v4
15g.28141492G=CA2166479854HERC2c.11955C= (p.Leu3985=)
c.3666C= (p.Leu1222=)
c.11841C= (p.Leu3947=)
c.11940C= (p.Leu3980=)
c.11697C= (p.Leu3899=)
c.11472C= (p.Leu3824=)
c.9471C= (p.Leu3157=)
c.8700C= (p.Leu2900=)
c.6072C= (p.Leu2024=)
c.5121C= (p.Leu1707=)
15g.28141492G>TCA489234697HERC2c.11955C>A (p.Leu3985=)
c.3666C>A (p.Leu1222=)
c.11841C>A (p.Leu3947=)
c.11940C>A (p.Leu3980=)
c.11697C>A (p.Leu3899=)
c.11472C>A (p.Leu3824=)
c.9471C>A (p.Leu3157=)
c.8700C>A (p.Leu2900=)
c.6072C>A (p.Leu2024=)
c.5121C>A (p.Leu1707=)
15g.28141493A>CCA391381156HERC2c.11954T>G (p.Leu3985Arg)
c.3665T>G (p.Leu1222Arg)
c.11840T>G (p.Leu3947Arg)
c.11939T>G (p.Leu3980Arg)
c.11696T>G (p.Leu3899Arg)
c.11471T>G (p.Leu3824Arg)
c.9470T>G (p.Leu3157Arg)
c.8699T>G (p.Leu2900Arg)
c.6071T>G (p.Leu2024Arg)
c.5120T>G (p.Leu1707Arg)
15g.28141493A>GCA391381158HERC2c.11954T>C (p.Leu3985Pro)
c.3665T>C (p.Leu1222Pro)
c.11840T>C (p.Leu3947Pro)
c.11939T>C (p.Leu3980Pro)
c.11696T>C (p.Leu3899Pro)
c.11471T>C (p.Leu3824Pro)
c.9470T>C (p.Leu3157Pro)
c.8699T>C (p.Leu2900Pro)
c.6071T>C (p.Leu2024Pro)
c.5120T>C (p.Leu1707Pro)
 gnomAD v4
15g.28141493A>TCA391381159HERC2c.11954T>A (p.Leu3985His)
c.3665T>A (p.Leu1222His)
c.11840T>A (p.Leu3947His)
c.11939T>A (p.Leu3980His)
c.11696T>A (p.Leu3899His)
c.11471T>A (p.Leu3824His)
c.9470T>A (p.Leu3157His)
c.8699T>A (p.Leu2900His)
c.6071T>A (p.Leu2024His)
c.5120T>A (p.Leu1707His)
15g.28141494G>ACA391381161HERC2c.11953C>T (p.Leu3985Phe)
c.3664C>T (p.Leu1222Phe)
c.11839C>T (p.Leu3947Phe)
c.11938C>T (p.Leu3980Phe)
c.11695C>T (p.Leu3899Phe)
c.11470C>T (p.Leu3824Phe)
c.9469C>T (p.Leu3157Phe)
c.8698C>T (p.Leu2900Phe)
c.6070C>T (p.Leu2024Phe)
c.5119C>T (p.Leu1707Phe)
 gnomAD v4
15g.28141494G>CCA391381164HERC2c.11953C>G (p.Leu3985Val)
c.3664C>G (p.Leu1222Val)
c.11839C>G (p.Leu3947Val)
c.11938C>G (p.Leu3980Val)
c.11695C>G (p.Leu3899Val)
c.11470C>G (p.Leu3824Val)
c.9469C>G (p.Leu3157Val)
c.8698C>G (p.Leu2900Val)
c.6070C>G (p.Leu2024Val)
c.5119C>G (p.Leu1707Val)
 dbSNP gnomAD v4
15g.28141494G=CA2166479857HERC2c.11953C= (p.Leu3985=)
c.3664C= (p.Leu1222=)
c.11839C= (p.Leu3947=)
c.11938C= (p.Leu3980=)
c.11695C= (p.Leu3899=)
c.11470C= (p.Leu3824=)
c.9469C= (p.Leu3157=)
c.8698C= (p.Leu2900=)
c.6070C= (p.Leu2024=)
c.5119C= (p.Leu1707=)
15g.28141494G>TCA391381167HERC2c.11953C>A (p.Leu3985Ile)
c.3664C>A (p.Leu1222Ile)
c.11839C>A (p.Leu3947Ile)
c.11938C>A (p.Leu3980Ile)
c.11695C>A (p.Leu3899Ile)
c.11470C>A (p.Leu3824Ile)
c.9469C>A (p.Leu3157Ile)
c.8698C>A (p.Leu2900Ile)
c.6070C>A (p.Leu2024Ile)
c.5119C>A (p.Leu1707Ile)
15g.28141495A>CCA489234698HERC2c.11952T>G (p.Thr3984=)
c.3663T>G (p.Thr1221=)
c.11838T>G (p.Thr3946=)
c.11937T>G (p.Thr3979=)
c.11694T>G (p.Thr3898=)
c.11469T>G (p.Thr3823=)
c.9468T>G (p.Thr3156=)
c.8697T>G (p.Thr2899=)
c.6069T>G (p.Thr2023=)
c.5118T>G (p.Thr1706=)
15g.28141495A>GCA489234700HERC2c.11952T>C (p.Thr3984=)
c.3663T>C (p.Thr1221=)
c.11838T>C (p.Thr3946=)
c.11937T>C (p.Thr3979=)
c.11694T>C (p.Thr3898=)
c.11469T>C (p.Thr3823=)
c.9468T>C (p.Thr3156=)
c.8697T>C (p.Thr2899=)
c.6069T>C (p.Thr2023=)
c.5118T>C (p.Thr1706=)
15g.28141495A>TCA489234703HERC2c.11952T>A (p.Thr3984=)
c.3663T>A (p.Thr1221=)
c.11838T>A (p.Thr3946=)
c.11937T>A (p.Thr3979=)
c.11694T>A (p.Thr3898=)
c.11469T>A (p.Thr3823=)
c.9468T>A (p.Thr3156=)
c.8697T>A (p.Thr2899=)
c.6069T>A (p.Thr2023=)
c.5118T>A (p.Thr1706=)
15g.28141496G>ACA391381172HERC2c.11951C>T (p.Thr3984Ile)
c.3662C>T (p.Thr1221Ile)
c.11837C>T (p.Thr3946Ile)
c.11936C>T (p.Thr3979Ile)
c.11693C>T (p.Thr3898Ile)
c.11468C>T (p.Thr3823Ile)
c.9467C>T (p.Thr3156Ile)
c.8696C>T (p.Thr2899Ile)
c.6068C>T (p.Thr2023Ile)
c.5117C>T (p.Thr1706Ile)
15g.28141496G>CCA391381174HERC2c.11951C>G (p.Thr3984Ser)
c.3662C>G (p.Thr1221Ser)
c.11837C>G (p.Thr3946Ser)
c.11936C>G (p.Thr3979Ser)
c.11693C>G (p.Thr3898Ser)
c.11468C>G (p.Thr3823Ser)
c.9467C>G (p.Thr3156Ser)
c.8696C>G (p.Thr2899Ser)
c.6068C>G (p.Thr2023Ser)
c.5117C>G (p.Thr1706Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141496G=CA2166479859HERC2c.11951C= (p.Thr3984=)
c.3662C= (p.Thr1221=)
c.11837C= (p.Thr3946=)
c.11936C= (p.Thr3979=)
c.11693C= (p.Thr3898=)
c.11468C= (p.Thr3823=)
c.9467C= (p.Thr3156=)
c.8696C= (p.Thr2899=)
c.6068C= (p.Thr2023=)
c.5117C= (p.Thr1706=)
15g.28141496G>TCA391381170HERC2c.11951C>A (p.Thr3984Asn)
c.3662C>A (p.Thr1221Asn)
c.11837C>A (p.Thr3946Asn)
c.11936C>A (p.Thr3979Asn)
c.11693C>A (p.Thr3898Asn)
c.11468C>A (p.Thr3823Asn)
c.9467C>A (p.Thr3156Asn)
c.8696C>A (p.Thr2899Asn)
c.6068C>A (p.Thr2023Asn)
c.5117C>A (p.Thr1706Asn)
15g.28141497T>ACA391381177HERC2c.11950A>T (p.Thr3984Ser)
c.3661A>T (p.Thr1221Ser)
c.11836A>T (p.Thr3946Ser)
c.11935A>T (p.Thr3979Ser)
c.11692A>T (p.Thr3898Ser)
c.11467A>T (p.Thr3823Ser)
c.9466A>T (p.Thr3156Ser)
c.8695A>T (p.Thr2899Ser)
c.6067A>T (p.Thr2023Ser)
c.5116A>T (p.Thr1706Ser)
 dbSNP
15g.28141497T>CCA7440428HERC2c.11950A>G (p.Thr3984Ala)
c.3661A>G (p.Thr1221Ala)
c.11836A>G (p.Thr3946Ala)
c.11935A>G (p.Thr3979Ala)
c.11692A>G (p.Thr3898Ala)
c.11467A>G (p.Thr3823Ala)
c.9466A>G (p.Thr3156Ala)
c.8695A>G (p.Thr2899Ala)
c.6067A>G (p.Thr2023Ala)
c.5116A>G (p.Thr1706Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141497T>GCA391381180HERC2c.11950A>C (p.Thr3984Pro)
c.3661A>C (p.Thr1221Pro)
c.11836A>C (p.Thr3946Pro)
c.11935A>C (p.Thr3979Pro)
c.11692A>C (p.Thr3898Pro)
c.11467A>C (p.Thr3823Pro)
c.9466A>C (p.Thr3156Pro)
c.8695A>C (p.Thr2899Pro)
c.6067A>C (p.Thr2023Pro)
c.5116A>C (p.Thr1706Pro)
 dbSNP gnomAD v3 gnomAD v4
15g.28141497T=CA2166479861HERC2c.11950A= (p.Thr3984=)
c.3661A= (p.Thr1221=)
c.11836A= (p.Thr3946=)
c.11935A= (p.Thr3979=)
c.11692A= (p.Thr3898=)
c.11467A= (p.Thr3823=)
c.9466A= (p.Thr3156=)
c.8695A= (p.Thr2899=)
c.6067A= (p.Thr2023=)
c.5116A= (p.Thr1706=)
15g.28141498T>ACA489234704HERC2c.11949A>T (p.Ala3983=)
c.3660A>T (p.Ala1220=)
c.11835A>T (p.Ala3945=)
c.11934A>T (p.Ala3978=)
c.11691A>T (p.Ala3897=)
c.11466A>T (p.Ala3822=)
c.9465A>T (p.Ala3155=)
c.8694A>T (p.Ala2898=)
c.6066A>T (p.Ala2022=)
c.5115A>T (p.Ala1705=)
15g.28141498T>CCA489234705HERC2c.11949A>G (p.Ala3983=)
c.3660A>G (p.Ala1220=)
c.11835A>G (p.Ala3945=)
c.11934A>G (p.Ala3978=)
c.11691A>G (p.Ala3897=)
c.11466A>G (p.Ala3822=)
c.9465A>G (p.Ala3155=)
c.8694A>G (p.Ala2898=)
c.6066A>G (p.Ala2022=)
c.5115A>G (p.Ala1705=)
15g.28141498T>GCA489234706HERC2c.11949A>C (p.Ala3983=)
c.3660A>C (p.Ala1220=)
c.11835A>C (p.Ala3945=)
c.11934A>C (p.Ala3978=)
c.11691A>C (p.Ala3897=)
c.11466A>C (p.Ala3822=)
c.9465A>C (p.Ala3155=)
c.8694A>C (p.Ala2898=)
c.6066A>C (p.Ala2022=)
c.5115A>C (p.Ala1705=)
 dbSNP gnomAD v4
15g.28141498T=CA2166479863HERC2c.11949A= (p.Ala3983=)
c.3660A= (p.Ala1220=)
c.11835A= (p.Ala3945=)
c.11934A= (p.Ala3978=)
c.11691A= (p.Ala3897=)
c.11466A= (p.Ala3822=)
c.9465A= (p.Ala3155=)
c.8694A= (p.Ala2898=)
c.6066A= (p.Ala2022=)
c.5115A= (p.Ala1705=)
15g.28141499G>ACA391381183HERC2c.11948C>T (p.Ala3983Val)
c.3659C>T (p.Ala1220Val)
c.11834C>T (p.Ala3945Val)
c.11933C>T (p.Ala3978Val)
c.11690C>T (p.Ala3897Val)
c.11465C>T (p.Ala3822Val)
c.9464C>T (p.Ala3155Val)
c.8693C>T (p.Ala2898Val)
c.6065C>T (p.Ala2022Val)
c.5114C>T (p.Ala1705Val)
15g.28141499G>CCA391381186HERC2c.11948C>G (p.Ala3983Gly)
c.3659C>G (p.Ala1220Gly)
c.11834C>G (p.Ala3945Gly)
c.11933C>G (p.Ala3978Gly)
c.11690C>G (p.Ala3897Gly)
c.11465C>G (p.Ala3822Gly)
c.9464C>G (p.Ala3155Gly)
c.8693C>G (p.Ala2898Gly)
c.6065C>G (p.Ala2022Gly)
c.5114C>G (p.Ala1705Gly)
15g.28141499G>TCA391381188HERC2c.11948C>A (p.Ala3983Glu)
c.3659C>A (p.Ala1220Glu)
c.11834C>A (p.Ala3945Glu)
c.11933C>A (p.Ala3978Glu)
c.11690C>A (p.Ala3897Glu)
c.11465C>A (p.Ala3822Glu)
c.9464C>A (p.Ala3155Glu)
c.8693C>A (p.Ala2898Glu)
c.6065C>A (p.Ala2022Glu)
c.5114C>A (p.Ala1705Glu)
15g.28141500C>ACA391381190HERC2c.11947G>T (p.Ala3983Ser)
c.3658G>T (p.Ala1220Ser)
c.11833G>T (p.Ala3945Ser)
c.11932G>T (p.Ala3978Ser)
c.11689G>T (p.Ala3897Ser)
c.11464G>T (p.Ala3822Ser)
c.9463G>T (p.Ala3155Ser)
c.8692G>T (p.Ala2898Ser)
c.6064G>T (p.Ala2022Ser)
c.5113G>T (p.Ala1705Ser)
15g.28141500C>GCA391381193HERC2c.11947G>C (p.Ala3983Pro)
c.3658G>C (p.Ala1220Pro)
c.11833G>C (p.Ala3945Pro)
c.11932G>C (p.Ala3978Pro)
c.11689G>C (p.Ala3897Pro)
c.11464G>C (p.Ala3822Pro)
c.9463G>C (p.Ala3155Pro)
c.8692G>C (p.Ala2898Pro)
c.6064G>C (p.Ala2022Pro)
c.5113G>C (p.Ala1705Pro)
15g.28141500C>TCA391381195HERC2c.11947G>A (p.Ala3983Thr)
c.3658G>A (p.Ala1220Thr)
c.11833G>A (p.Ala3945Thr)
c.11932G>A (p.Ala3978Thr)
c.11689G>A (p.Ala3897Thr)
c.11464G>A (p.Ala3822Thr)
c.9463G>A (p.Ala3155Thr)
c.8692G>A (p.Ala2898Thr)
c.6064G>A (p.Ala2022Thr)
c.5113G>A (p.Ala1705Thr)
15g.28141501A>CCA489234707HERC2c.11946T>G (p.Leu3982=)
c.3657T>G (p.Leu1219=)
c.11832T>G (p.Leu3944=)
c.11931T>G (p.Leu3977=)
c.11688T>G (p.Leu3896=)
c.11463T>G (p.Leu3821=)
c.9462T>G (p.Leu3154=)
c.8691T>G (p.Leu2897=)
c.6063T>G (p.Leu2021=)
c.5112T>G (p.Leu1704=)
15g.28141501A>GCA489234708HERC2c.11946T>C (p.Leu3982=)
c.3657T>C (p.Leu1219=)
c.11832T>C (p.Leu3944=)
c.11931T>C (p.Leu3977=)
c.11688T>C (p.Leu3896=)
c.11463T>C (p.Leu3821=)
c.9462T>C (p.Leu3154=)
c.8691T>C (p.Leu2897=)
c.6063T>C (p.Leu2021=)
c.5112T>C (p.Leu1704=)
15g.28141501A>TCA489234710HERC2c.11946T>A (p.Leu3982=)
c.3657T>A (p.Leu1219=)
c.11832T>A (p.Leu3944=)
c.11931T>A (p.Leu3977=)
c.11688T>A (p.Leu3896=)
c.11463T>A (p.Leu3821=)
c.9462T>A (p.Leu3154=)
c.8691T>A (p.Leu2897=)
c.6063T>A (p.Leu2021=)
c.5112T>A (p.Leu1704=)
15g.28141502A>CCA391381198HERC2c.11945T>G (p.Leu3982Arg)
c.3656T>G (p.Leu1219Arg)
c.11831T>G (p.Leu3944Arg)
c.11930T>G (p.Leu3977Arg)
c.11687T>G (p.Leu3896Arg)
c.11462T>G (p.Leu3821Arg)
c.9461T>G (p.Leu3154Arg)
c.8690T>G (p.Leu2897Arg)
c.6062T>G (p.Leu2021Arg)
c.5111T>G (p.Leu1704Arg)
15g.28141502A>GCA391381200HERC2c.11945T>C (p.Leu3982Pro)
c.3656T>C (p.Leu1219Pro)
c.11831T>C (p.Leu3944Pro)
c.11930T>C (p.Leu3977Pro)
c.11687T>C (p.Leu3896Pro)
c.11462T>C (p.Leu3821Pro)
c.9461T>C (p.Leu3154Pro)
c.8690T>C (p.Leu2897Pro)
c.6062T>C (p.Leu2021Pro)
c.5111T>C (p.Leu1704Pro)
15g.28141502A>TCA391381203HERC2c.11945T>A (p.Leu3982His)
c.3656T>A (p.Leu1219His)
c.11831T>A (p.Leu3944His)
c.11930T>A (p.Leu3977His)
c.11687T>A (p.Leu3896His)
c.11462T>A (p.Leu3821His)
c.9461T>A (p.Leu3154His)
c.8690T>A (p.Leu2897His)
c.6062T>A (p.Leu2021His)
c.5111T>A (p.Leu1704His)
15g.28141503G>ACA391381209HERC2c.11944C>T (p.Leu3982Phe)
c.3655C>T (p.Leu1219Phe)
c.11830C>T (p.Leu3944Phe)
c.11929C>T (p.Leu3977Phe)
c.11686C>T (p.Leu3896Phe)
c.11461C>T (p.Leu3821Phe)
c.9460C>T (p.Leu3154Phe)
c.8689C>T (p.Leu2897Phe)
c.6061C>T (p.Leu2021Phe)
c.5110C>T (p.Leu1704Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141503G>CCA391381211HERC2c.11944C>G (p.Leu3982Val)
c.3655C>G (p.Leu1219Val)
c.11830C>G (p.Leu3944Val)
c.11929C>G (p.Leu3977Val)
c.11686C>G (p.Leu3896Val)
c.11461C>G (p.Leu3821Val)
c.9460C>G (p.Leu3154Val)
c.8689C>G (p.Leu2897Val)
c.6061C>G (p.Leu2021Val)
c.5110C>G (p.Leu1704Val)
15g.28141503G=CA2166479865HERC2c.11944C= (p.Leu3982=)
c.3655C= (p.Leu1219=)
c.11830C= (p.Leu3944=)
c.11929C= (p.Leu3977=)
c.11686C= (p.Leu3896=)
c.11461C= (p.Leu3821=)
c.9460C= (p.Leu3154=)
c.8689C= (p.Leu2897=)
c.6061C= (p.Leu2021=)
c.5110C= (p.Leu1704=)
15g.28141503G>TCA391381206HERC2c.11944C>A (p.Leu3982Ile)
c.3655C>A (p.Leu1219Ile)
c.11830C>A (p.Leu3944Ile)
c.11929C>A (p.Leu3977Ile)
c.11686C>A (p.Leu3896Ile)
c.11461C>A (p.Leu3821Ile)
c.9460C>A (p.Leu3154Ile)
c.8689C>A (p.Leu2897Ile)
c.6061C>A (p.Leu2021Ile)
c.5110C>A (p.Leu1704Ile)
15g.28141504G>ACA267946081HERC2c.11943C>T (p.Ala3981=)
c.3654C>T (p.Ala1218=)
c.11829C>T (p.Ala3943=)
c.11928C>T (p.Ala3976=)
c.11685C>T (p.Ala3895=)
c.11460C>T (p.Ala3820=)
c.9459C>T (p.Ala3153=)
c.8688C>T (p.Ala2896=)
c.6060C>T (p.Ala2020=)
c.5109C>T (p.Ala1703=)
 dbSNP
15g.28141504G>CCA489234715HERC2c.11943C>G (p.Ala3981=)
c.3654C>G (p.Ala1218=)
c.11829C>G (p.Ala3943=)
c.11928C>G (p.Ala3976=)
c.11685C>G (p.Ala3895=)
c.11460C>G (p.Ala3820=)
c.9459C>G (p.Ala3153=)
c.8688C>G (p.Ala2896=)
c.6060C>G (p.Ala2020=)
c.5109C>G (p.Ala1703=)
15g.28141504G=CA2166479867HERC2c.11943C= (p.Ala3981=)
c.3654C= (p.Ala1218=)
c.11829C= (p.Ala3943=)
c.11928C= (p.Ala3976=)
c.11685C= (p.Ala3895=)
c.11460C= (p.Ala3820=)
c.9459C= (p.Ala3153=)
c.8688C= (p.Ala2896=)
c.6060C= (p.Ala2020=)
c.5109C= (p.Ala1703=)
15g.28141504G>TCA489234713HERC2c.11943C>A (p.Ala3981=)
c.3654C>A (p.Ala1218=)
c.11829C>A (p.Ala3943=)
c.11928C>A (p.Ala3976=)
c.11685C>A (p.Ala3895=)
c.11460C>A (p.Ala3820=)
c.9459C>A (p.Ala3153=)
c.8688C>A (p.Ala2896=)
c.6060C>A (p.Ala2020=)
c.5109C>A (p.Ala1703=)
15g.28141505G>ACA391381216HERC2c.11942C>T (p.Ala3981Val)
c.3653C>T (p.Ala1218Val)
c.11828C>T (p.Ala3943Val)
c.11927C>T (p.Ala3976Val)
c.11684C>T (p.Ala3895Val)
c.11459C>T (p.Ala3820Val)
c.9458C>T (p.Ala3153Val)
c.8687C>T (p.Ala2896Val)
c.6059C>T (p.Ala2020Val)
c.5108C>T (p.Ala1703Val)
 gnomAD v4
15g.28141505G>CCA391381218HERC2c.11942C>G (p.Ala3981Gly)
c.3653C>G (p.Ala1218Gly)
c.11828C>G (p.Ala3943Gly)
c.11927C>G (p.Ala3976Gly)
c.11684C>G (p.Ala3895Gly)
c.11459C>G (p.Ala3820Gly)
c.9458C>G (p.Ala3153Gly)
c.8687C>G (p.Ala2896Gly)
c.6059C>G (p.Ala2020Gly)
c.5108C>G (p.Ala1703Gly)
 dbSNP gnomAD v3 gnomAD v4
15g.28141505G=CA2166479869HERC2c.11942C= (p.Ala3981=)
c.3653C= (p.Ala1218=)
c.11828C= (p.Ala3943=)
c.11927C= (p.Ala3976=)
c.11684C= (p.Ala3895=)
c.11459C= (p.Ala3820=)
c.9458C= (p.Ala3153=)
c.8687C= (p.Ala2896=)
c.6059C= (p.Ala2020=)
c.5108C= (p.Ala1703=)
15g.28141505G>TCA391381220HERC2c.11942C>A (p.Ala3981Asp)
c.3653C>A (p.Ala1218Asp)
c.11828C>A (p.Ala3943Asp)
c.11927C>A (p.Ala3976Asp)
c.11684C>A (p.Ala3895Asp)
c.11459C>A (p.Ala3820Asp)
c.9458C>A (p.Ala3153Asp)
c.8687C>A (p.Ala2896Asp)
c.6059C>A (p.Ala2020Asp)
c.5108C>A (p.Ala1703Asp)
15g.28141506C>ACA391381222HERC2c.11941G>T (p.Ala3981Ser)
c.3652G>T (p.Ala1218Ser)
c.11827G>T (p.Ala3943Ser)
c.11926G>T (p.Ala3976Ser)
c.11683G>T (p.Ala3895Ser)
c.11458G>T (p.Ala3820Ser)
c.9457G>T (p.Ala3153Ser)
c.8686G>T (p.Ala2896Ser)
c.6058G>T (p.Ala2020Ser)
c.5107G>T (p.Ala1703Ser)
15g.28141506C=CA2166479871HERC2c.11941G= (p.Ala3981=)
c.3652G= (p.Ala1218=)
c.11827G= (p.Ala3943=)
c.11926G= (p.Ala3976=)
c.11683G= (p.Ala3895=)
c.11458G= (p.Ala3820=)
c.9457G= (p.Ala3153=)
c.8686G= (p.Ala2896=)
c.6058G= (p.Ala2020=)
c.5107G= (p.Ala1703=)
15g.28141506C>GCA391381225HERC2c.11941G>C (p.Ala3981Pro)
c.3652G>C (p.Ala1218Pro)
c.11827G>C (p.Ala3943Pro)
c.11926G>C (p.Ala3976Pro)
c.11683G>C (p.Ala3895Pro)
c.11458G>C (p.Ala3820Pro)
c.9457G>C (p.Ala3153Pro)
c.8686G>C (p.Ala2896Pro)
c.6058G>C (p.Ala2020Pro)
c.5107G>C (p.Ala1703Pro)
15g.28141506C>TCA391381228HERC2c.11941G>A (p.Ala3981Thr)
c.3652G>A (p.Ala1218Thr)
c.11827G>A (p.Ala3943Thr)
c.11926G>A (p.Ala3976Thr)
c.11683G>A (p.Ala3895Thr)
c.11458G>A (p.Ala3820Thr)
c.9457G>A (p.Ala3153Thr)
c.8686G>A (p.Ala2896Thr)
c.6058G>A (p.Ala2020Thr)
c.5107G>A (p.Ala1703Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28141507T>ACA391381231HERC2c.11940A>T (p.Glu3980Asp)
c.3651A>T (p.Glu1217Asp)
c.11826A>T (p.Glu3942Asp)
c.11925A>T (p.Glu3975Asp)
c.11682A>T (p.Glu3894Asp)
c.11457A>T (p.Glu3819Asp)
c.9456A>T (p.Glu3152Asp)
c.8685A>T (p.Glu2895Asp)
c.6057A>T (p.Glu2019Asp)
c.5106A>T (p.Glu1702Asp)
15g.28141507T>CCA489234717HERC2c.11940A>G (p.Glu3980=)
c.3651A>G (p.Glu1217=)
c.11826A>G (p.Glu3942=)
c.11925A>G (p.Glu3975=)
c.11682A>G (p.Glu3894=)
c.11457A>G (p.Glu3819=)
c.9456A>G (p.Glu3152=)
c.8685A>G (p.Glu2895=)
c.6057A>G (p.Glu2019=)
c.5106A>G (p.Glu1702=)
15g.28141507T>GCA391381234HERC2c.11940A>C (p.Glu3980Asp)
c.3651A>C (p.Glu1217Asp)
c.11826A>C (p.Glu3942Asp)
c.11925A>C (p.Glu3975Asp)
c.11682A>C (p.Glu3894Asp)
c.11457A>C (p.Glu3819Asp)
c.9456A>C (p.Glu3152Asp)
c.8685A>C (p.Glu2895Asp)
c.6057A>C (p.Glu2019Asp)
c.5106A>C (p.Glu1702Asp)
15g.28141508T>ACA391381235HERC2c.11939A>T (p.Glu3980Val)
c.3650A>T (p.Glu1217Val)
c.11825A>T (p.Glu3942Val)
c.11924A>T (p.Glu3975Val)
c.11681A>T (p.Glu3894Val)
c.11456A>T (p.Glu3819Val)
c.9455A>T (p.Glu3152Val)
c.8684A>T (p.Glu2895Val)
c.6056A>T (p.Glu2019Val)
c.5105A>T (p.Glu1702Val)
15g.28141508T>CCA391381237HERC2c.11939A>G (p.Glu3980Gly)
c.3650A>G (p.Glu1217Gly)
c.11825A>G (p.Glu3942Gly)
c.11924A>G (p.Glu3975Gly)
c.11681A>G (p.Glu3894Gly)
c.11456A>G (p.Glu3819Gly)
c.9455A>G (p.Glu3152Gly)
c.8684A>G (p.Glu2895Gly)
c.6056A>G (p.Glu2019Gly)
c.5105A>G (p.Glu1702Gly)
15g.28141508T>GCA391381238HERC2c.11939A>C (p.Glu3980Ala)
c.3650A>C (p.Glu1217Ala)
c.11825A>C (p.Glu3942Ala)
c.11924A>C (p.Glu3975Ala)
c.11681A>C (p.Glu3894Ala)
c.11456A>C (p.Glu3819Ala)
c.9455A>C (p.Glu3152Ala)
c.8684A>C (p.Glu2895Ala)
c.6056A>C (p.Glu2019Ala)
c.5105A>C (p.Glu1702Ala)
15g.28141509C>ACA391381242HERC2c.11938G>T (p.Glu3980Ter)
c.3649G>T (p.Glu1217Ter)
c.11824G>T (p.Glu3942Ter)
c.11923G>T (p.Glu3975Ter)
c.11680G>T (p.Glu3894Ter)
c.11455G>T (p.Glu3819Ter)
c.9454G>T (p.Glu3152Ter)
c.8683G>T (p.Glu2895Ter)
c.6055G>T (p.Glu2019Ter)
c.5104G>T (p.Glu1702Ter)
 COSMIC COSMIC
15g.28141509C>GCA391381243HERC2c.11938G>C (p.Glu3980Gln)
c.3649G>C (p.Glu1217Gln)
c.11824G>C (p.Glu3942Gln)
c.11923G>C (p.Glu3975Gln)
c.11680G>C (p.Glu3894Gln)
c.11455G>C (p.Glu3819Gln)
c.9454G>C (p.Glu3152Gln)
c.8683G>C (p.Glu2895Gln)
c.6055G>C (p.Glu2019Gln)
c.5104G>C (p.Glu1702Gln)
15g.28141509C>TCA391381245HERC2c.11938G>A (p.Glu3980Lys)
c.3649G>A (p.Glu1217Lys)
c.11824G>A (p.Glu3942Lys)
c.11923G>A (p.Glu3975Lys)
c.11680G>A (p.Glu3894Lys)
c.11455G>A (p.Glu3819Lys)
c.9454G>A (p.Glu3152Lys)
c.8683G>A (p.Glu2895Lys)
c.6055G>A (p.Glu2019Lys)
c.5104G>A (p.Glu1702Lys)
15g.28141510A=CA2166479872HERC2c.11937T= (p.Cys3979=)
c.3648T= (p.Cys1216=)
c.11823T= (p.Cys3941=)
c.11922T= (p.Cys3974=)
c.11679T= (p.Cys3893=)
c.11454T= (p.Cys3818=)
c.9453T= (p.Cys3151=)
c.8682T= (p.Cys2894=)
c.6054T= (p.Cys2018=)
c.5103T= (p.Cys1701=)
15g.28141510A>CCA391381251HERC2c.11937T>G (p.Cys3979Trp)
c.3648T>G (p.Cys1216Trp)
c.11823T>G (p.Cys3941Trp)
c.11922T>G (p.Cys3974Trp)
c.11679T>G (p.Cys3893Trp)
c.11454T>G (p.Cys3818Trp)
c.9453T>G (p.Cys3151Trp)
c.8682T>G (p.Cys2894Trp)
c.6054T>G (p.Cys2018Trp)
c.5103T>G (p.Cys1701Trp)
15g.28141510A>GCA489234720HERC2c.11937T>C (p.Cys3979=)
c.3648T>C (p.Cys1216=)
c.11823T>C (p.Cys3941=)
c.11922T>C (p.Cys3974=)
c.11679T>C (p.Cys3893=)
c.11454T>C (p.Cys3818=)
c.9453T>C (p.Cys3151=)
c.8682T>C (p.Cys2894=)
c.6054T>C (p.Cys2018=)
c.5103T>C (p.Cys1701=)
 dbSNP
15g.28141510A>TCA391381249HERC2c.11937T>A (p.Cys3979Ter)
c.3648T>A (p.Cys1216Ter)
c.11823T>A (p.Cys3941Ter)
c.11922T>A (p.Cys3974Ter)
c.11679T>A (p.Cys3893Ter)
c.11454T>A (p.Cys3818Ter)
c.9453T>A (p.Cys3151Ter)
c.8682T>A (p.Cys2894Ter)
c.6054T>A (p.Cys2018Ter)
c.5103T>A (p.Cys1701Ter)
15g.28141511C>ACA391381255HERC2c.11936G>T (p.Cys3979Phe)
c.3647G>T (p.Cys1216Phe)
c.11822G>T (p.Cys3941Phe)
c.11921G>T (p.Cys3974Phe)
c.11678G>T (p.Cys3893Phe)
c.11453G>T (p.Cys3818Phe)
c.9452G>T (p.Cys3151Phe)
c.8681G>T (p.Cys2894Phe)
c.6053G>T (p.Cys2018Phe)
c.5102G>T (p.Cys1701Phe)
 dbSNP gnomAD v3 gnomAD v4
15g.28141511C=CA2166479874HERC2c.11936G= (p.Cys3979=)
c.3647G= (p.Cys1216=)
c.11822G= (p.Cys3941=)
c.11921G= (p.Cys3974=)
c.11678G= (p.Cys3893=)
c.11453G= (p.Cys3818=)
c.9452G= (p.Cys3151=)
c.8681G= (p.Cys2894=)
c.6053G= (p.Cys2018=)
c.5102G= (p.Cys1701=)
15g.28141511C>GCA391381260HERC2c.11936G>C (p.Cys3979Ser)
c.3647G>C (p.Cys1216Ser)
c.11822G>C (p.Cys3941Ser)
c.11921G>C (p.Cys3974Ser)
c.11678G>C (p.Cys3893Ser)
c.11453G>C (p.Cys3818Ser)
c.9452G>C (p.Cys3151Ser)
c.8681G>C (p.Cys2894Ser)
c.6053G>C (p.Cys2018Ser)
c.5102G>C (p.Cys1701Ser)
15g.28141511C>TCA391381257HERC2c.11936G>A (p.Cys3979Tyr)
c.3647G>A (p.Cys1216Tyr)
c.11822G>A (p.Cys3941Tyr)
c.11921G>A (p.Cys3974Tyr)
c.11678G>A (p.Cys3893Tyr)
c.11453G>A (p.Cys3818Tyr)
c.9452G>A (p.Cys3151Tyr)
c.8681G>A (p.Cys2894Tyr)
c.6053G>A (p.Cys2018Tyr)
c.5102G>A (p.Cys1701Tyr)
 dbSNP
15g.28141512A=CA2166479875HERC2c.11935T= (p.Cys3979=)
c.3646T= (p.Cys1216=)
c.11821T= (p.Cys3941=)
c.11920T= (p.Cys3974=)
c.11677T= (p.Cys3893=)
c.11452T= (p.Cys3818=)
c.9451T= (p.Cys3151=)
c.8680T= (p.Cys2894=)
c.6052T= (p.Cys2018=)
c.5101T= (p.Cys1701=)
15g.28141512A>CCA391381263HERC2c.11935T>G (p.Cys3979Gly)
c.3646T>G (p.Cys1216Gly)
c.11821T>G (p.Cys3941Gly)
c.11920T>G (p.Cys3974Gly)
c.11677T>G (p.Cys3893Gly)
c.11452T>G (p.Cys3818Gly)
c.9451T>G (p.Cys3151Gly)
c.8680T>G (p.Cys2894Gly)
c.6052T>G (p.Cys2018Gly)
c.5101T>G (p.Cys1701Gly)
15g.28141512A>GCA391381266HERC2c.11935T>C (p.Cys3979Arg)
c.3646T>C (p.Cys1216Arg)
c.11821T>C (p.Cys3941Arg)
c.11920T>C (p.Cys3974Arg)
c.11677T>C (p.Cys3893Arg)
c.11452T>C (p.Cys3818Arg)
c.9451T>C (p.Cys3151Arg)
c.8680T>C (p.Cys2894Arg)
c.6052T>C (p.Cys2018Arg)
c.5101T>C (p.Cys1701Arg)
 dbSNP
15g.28141512A>TCA391381264HERC2c.11935T>A (p.Cys3979Ser)
c.3646T>A (p.Cys1216Ser)
c.11821T>A (p.Cys3941Ser)
c.11920T>A (p.Cys3974Ser)
c.11677T>A (p.Cys3893Ser)
c.11452T>A (p.Cys3818Ser)
c.9451T>A (p.Cys3151Ser)
c.8680T>A (p.Cys2894Ser)
c.6052T>A (p.Cys2018Ser)
c.5101T>A (p.Cys1701Ser)
15g.28141513G>ACA489234724HERC2c.11934C>T (p.Pro3978=)
c.3645C>T (p.Pro1215=)
c.11820C>T (p.Pro3940=)
c.11919C>T (p.Pro3973=)
c.11676C>T (p.Pro3892=)
c.11451C>T (p.Pro3817=)
c.9450C>T (p.Pro3150=)
c.8679C>T (p.Pro2893=)
c.6051C>T (p.Pro2017=)
c.5100C>T (p.Pro1700=)
 gnomAD v4
15g.28141513G>CCA489234725HERC2c.11934C>G (p.Pro3978=)
c.3645C>G (p.Pro1215=)
c.11820C>G (p.Pro3940=)
c.11919C>G (p.Pro3973=)
c.11676C>G (p.Pro3892=)
c.11451C>G (p.Pro3817=)
c.9450C>G (p.Pro3150=)
c.8679C>G (p.Pro2893=)
c.6051C>G (p.Pro2017=)
c.5100C>G (p.Pro1700=)
 gnomAD v4
15g.28141513G>TCA489234726HERC2c.11934C>A (p.Pro3978=)
c.3645C>A (p.Pro1215=)
c.11820C>A (p.Pro3940=)
c.11919C>A (p.Pro3973=)
c.11676C>A (p.Pro3892=)
c.11451C>A (p.Pro3817=)
c.9450C>A (p.Pro3150=)
c.8679C>A (p.Pro2893=)
c.6051C>A (p.Pro2017=)
c.5100C>A (p.Pro1700=)
15g.28141514G>ACA391381269HERC2c.11933C>T (p.Pro3978Leu)
c.3644C>T (p.Pro1215Leu)
c.11819C>T (p.Pro3940Leu)
c.11918C>T (p.Pro3973Leu)
c.11675C>T (p.Pro3892Leu)
c.11450C>T (p.Pro3817Leu)
c.9449C>T (p.Pro3150Leu)
c.8678C>T (p.Pro2893Leu)
c.6050C>T (p.Pro2017Leu)
c.5099C>T (p.Pro1700Leu)
15g.28141514G>CCA7440429HERC2c.11933C>G (p.Pro3978Arg)
c.3644C>G (p.Pro1215Arg)
c.11819C>G (p.Pro3940Arg)
c.11918C>G (p.Pro3973Arg)
c.11675C>G (p.Pro3892Arg)
c.11450C>G (p.Pro3817Arg)
c.9449C>G (p.Pro3150Arg)
c.8678C>G (p.Pro2893Arg)
c.6050C>G (p.Pro2017Arg)
c.5099C>G (p.Pro1700Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141514G=CA2166479877HERC2c.11933C= (p.Pro3978=)
c.3644C= (p.Pro1215=)
c.11819C= (p.Pro3940=)
c.11918C= (p.Pro3973=)
c.11675C= (p.Pro3892=)
c.11450C= (p.Pro3817=)
c.9449C= (p.Pro3150=)
c.8678C= (p.Pro2893=)
c.6050C= (p.Pro2017=)
c.5099C= (p.Pro1700=)
15g.28141514G>TCA391381273HERC2c.11933C>A (p.Pro3978His)
c.3644C>A (p.Pro1215His)
c.11819C>A (p.Pro3940His)
c.11918C>A (p.Pro3973His)
c.11675C>A (p.Pro3892His)
c.11450C>A (p.Pro3817His)
c.9449C>A (p.Pro3150His)
c.8678C>A (p.Pro2893His)
c.6050C>A (p.Pro2017His)
c.5099C>A (p.Pro1700His)
15g.28141515G>ACA391381278HERC2c.11932C>T (p.Pro3978Ser)
c.3643C>T (p.Pro1215Ser)
c.11818C>T (p.Pro3940Ser)
c.11917C>T (p.Pro3973Ser)
c.11674C>T (p.Pro3892Ser)
c.11449C>T (p.Pro3817Ser)
c.9448C>T (p.Pro3150Ser)
c.8677C>T (p.Pro2893Ser)
c.6049C>T (p.Pro2017Ser)
c.5098C>T (p.Pro1700Ser)
 COSMIC COSMIC
15g.28141515G>CCA391381280HERC2c.11932C>G (p.Pro3978Ala)
c.3643C>G (p.Pro1215Ala)
c.11818C>G (p.Pro3940Ala)
c.11917C>G (p.Pro3973Ala)
c.11674C>G (p.Pro3892Ala)
c.11449C>G (p.Pro3817Ala)
c.9448C>G (p.Pro3150Ala)
c.8677C>G (p.Pro2893Ala)
c.6049C>G (p.Pro2017Ala)
c.5098C>G (p.Pro1700Ala)
 gnomAD v4
15g.28141515G>TCA391381281HERC2c.11932C>A (p.Pro3978Thr)
c.3643C>A (p.Pro1215Thr)
c.11818C>A (p.Pro3940Thr)
c.11917C>A (p.Pro3973Thr)
c.11674C>A (p.Pro3892Thr)
c.11449C>A (p.Pro3817Thr)
c.9448C>A (p.Pro3150Thr)
c.8677C>A (p.Pro2893Thr)
c.6049C>A (p.Pro2017Thr)
c.5098C>A (p.Pro1700Thr)
15g.28141516A>CCA489234730HERC2c.11931T>G (p.Thr3977=)
c.3642T>G (p.Thr1214=)
c.11817T>G (p.Thr3939=)
c.11916T>G (p.Thr3972=)
c.11673T>G (p.Thr3891=)
c.11448T>G (p.Thr3816=)
c.9447T>G (p.Thr3149=)
c.8676T>G (p.Thr2892=)
c.6048T>G (p.Thr2016=)
c.5097T>G (p.Thr1699=)
15g.28141516A>GCA489234732HERC2c.11931T>C (p.Thr3977=)
c.3642T>C (p.Thr1214=)
c.11817T>C (p.Thr3939=)
c.11916T>C (p.Thr3972=)
c.11673T>C (p.Thr3891=)
c.11448T>C (p.Thr3816=)
c.9447T>C (p.Thr3149=)
c.8676T>C (p.Thr2892=)
c.6048T>C (p.Thr2016=)
c.5097T>C (p.Thr1699=)
15g.28141516A>TCA489234731HERC2c.11931T>A (p.Thr3977=)
c.3642T>A (p.Thr1214=)
c.11817T>A (p.Thr3939=)
c.11916T>A (p.Thr3972=)
c.11673T>A (p.Thr3891=)
c.11448T>A (p.Thr3816=)
c.9447T>A (p.Thr3149=)
c.8676T>A (p.Thr2892=)
c.6048T>A (p.Thr2016=)
c.5097T>A (p.Thr1699=)
15g.28141517G>ACA391381282HERC2c.11930C>T (p.Thr3977Ile)
c.3641C>T (p.Thr1214Ile)
c.11816C>T (p.Thr3939Ile)
c.11915C>T (p.Thr3972Ile)
c.11672C>T (p.Thr3891Ile)
c.11447C>T (p.Thr3816Ile)
c.9446C>T (p.Thr3149Ile)
c.8675C>T (p.Thr2892Ile)
c.6047C>T (p.Thr2016Ile)
c.5096C>T (p.Thr1699Ile)
 gnomAD v4
15g.28141517G>CCA391381283HERC2c.11930C>G (p.Thr3977Ser)
c.3641C>G (p.Thr1214Ser)
c.11816C>G (p.Thr3939Ser)
c.11915C>G (p.Thr3972Ser)
c.11672C>G (p.Thr3891Ser)
c.11447C>G (p.Thr3816Ser)
c.9446C>G (p.Thr3149Ser)
c.8675C>G (p.Thr2892Ser)
c.6047C>G (p.Thr2016Ser)
c.5096C>G (p.Thr1699Ser)
15g.28141517G>TCA391381284HERC2c.11930C>A (p.Thr3977Asn)
c.3641C>A (p.Thr1214Asn)
c.11816C>A (p.Thr3939Asn)
c.11915C>A (p.Thr3972Asn)
c.11672C>A (p.Thr3891Asn)
c.11447C>A (p.Thr3816Asn)
c.9446C>A (p.Thr3149Asn)
c.8675C>A (p.Thr2892Asn)
c.6047C>A (p.Thr2016Asn)
c.5096C>A (p.Thr1699Asn)
15g.28141518T>ACA391381285HERC2c.11929A>T (p.Thr3977Ser)
c.3640A>T (p.Thr1214Ser)
c.11815A>T (p.Thr3939Ser)
c.11914A>T (p.Thr3972Ser)
c.11671A>T (p.Thr3891Ser)
c.11446A>T (p.Thr3816Ser)
c.9445A>T (p.Thr3149Ser)
c.8674A>T (p.Thr2892Ser)
c.6046A>T (p.Thr2016Ser)
c.5095A>T (p.Thr1699Ser)
15g.28141518T>CCA391381287HERC2c.11929A>G (p.Thr3977Ala)
c.3640A>G (p.Thr1214Ala)
c.11815A>G (p.Thr3939Ala)
c.11914A>G (p.Thr3972Ala)
c.11671A>G (p.Thr3891Ala)
c.11446A>G (p.Thr3816Ala)
c.9445A>G (p.Thr3149Ala)
c.8674A>G (p.Thr2892Ala)
c.6046A>G (p.Thr2016Ala)
c.5095A>G (p.Thr1699Ala)
15g.28141518T>GCA391381289HERC2c.11929A>C (p.Thr3977Pro)
c.3640A>C (p.Thr1214Pro)
c.11815A>C (p.Thr3939Pro)
c.11914A>C (p.Thr3972Pro)
c.11671A>C (p.Thr3891Pro)
c.11446A>C (p.Thr3816Pro)
c.9445A>C (p.Thr3149Pro)
c.8674A>C (p.Thr2892Pro)
c.6046A>C (p.Thr2016Pro)
c.5095A>C (p.Thr1699Pro)
15g.28141519G>ACA489234738HERC2c.11928C>T (p.Pro3976=)
c.3639C>T (p.Pro1213=)
c.11814C>T (p.Pro3938=)
c.11913C>T (p.Pro3971=)
c.11670C>T (p.Pro3890=)
c.11445C>T (p.Pro3815=)
c.9444C>T (p.Pro3148=)
c.8673C>T (p.Pro2891=)
c.6045C>T (p.Pro2015=)
c.5094C>T (p.Pro1698=)
15g.28141519G>CCA489234736HERC2c.11928C>G (p.Pro3976=)
c.3639C>G (p.Pro1213=)
c.11814C>G (p.Pro3938=)
c.11913C>G (p.Pro3971=)
c.11670C>G (p.Pro3890=)
c.11445C>G (p.Pro3815=)
c.9444C>G (p.Pro3148=)
c.8673C>G (p.Pro2891=)
c.6045C>G (p.Pro2015=)
c.5094C>G (p.Pro1698=)
15g.28141519G>TCA489234735HERC2c.11928C>A (p.Pro3976=)
c.3639C>A (p.Pro1213=)
c.11814C>A (p.Pro3938=)
c.11913C>A (p.Pro3971=)
c.11670C>A (p.Pro3890=)
c.11445C>A (p.Pro3815=)
c.9444C>A (p.Pro3148=)
c.8673C>A (p.Pro2891=)
c.6045C>A (p.Pro2015=)
c.5094C>A (p.Pro1698=)
15g.28141520G>ACA391381290HERC2c.11927C>T (p.Pro3976Leu)
c.3638C>T (p.Pro1213Leu)
c.11813C>T (p.Pro3938Leu)
c.11912C>T (p.Pro3971Leu)
c.11669C>T (p.Pro3890Leu)
c.11444C>T (p.Pro3815Leu)
c.9443C>T (p.Pro3148Leu)
c.8672C>T (p.Pro2891Leu)
c.6044C>T (p.Pro2015Leu)
c.5093C>T (p.Pro1698Leu)
15g.28141520G>CCA7440430HERC2c.11927C>G (p.Pro3976Arg)
c.3638C>G (p.Pro1213Arg)
c.11813C>G (p.Pro3938Arg)
c.11912C>G (p.Pro3971Arg)
c.11669C>G (p.Pro3890Arg)
c.11444C>G (p.Pro3815Arg)
c.9443C>G (p.Pro3148Arg)
c.8672C>G (p.Pro2891Arg)
c.6044C>G (p.Pro2015Arg)
c.5093C>G (p.Pro1698Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141520G=CA2166479878HERC2c.11927C= (p.Pro3976=)
c.3638C= (p.Pro1213=)
c.11813C= (p.Pro3938=)
c.11912C= (p.Pro3971=)
c.11669C= (p.Pro3890=)
c.11444C= (p.Pro3815=)
c.9443C= (p.Pro3148=)
c.8672C= (p.Pro2891=)
c.6044C= (p.Pro2015=)
c.5093C= (p.Pro1698=)
15g.28141520G>TCA391381291HERC2c.11927C>A (p.Pro3976His)
c.3638C>A (p.Pro1213His)
c.11813C>A (p.Pro3938His)
c.11912C>A (p.Pro3971His)
c.11669C>A (p.Pro3890His)
c.11444C>A (p.Pro3815His)
c.9443C>A (p.Pro3148His)
c.8672C>A (p.Pro2891His)
c.6044C>A (p.Pro2015His)
c.5093C>A (p.Pro1698His)
15g.28141521G>ACA7440431HERC2c.11926C>T (p.Pro3976Ser)
c.3637C>T (p.Pro1213Ser)
c.11812C>T (p.Pro3938Ser)
c.11911C>T (p.Pro3971Ser)
c.11668C>T (p.Pro3890Ser)
c.11443C>T (p.Pro3815Ser)
c.9442C>T (p.Pro3148Ser)
c.8671C>T (p.Pro2891Ser)
c.6043C>T (p.Pro2015Ser)
c.5092C>T (p.Pro1698Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141521G>CCA391381294HERC2c.11926C>G (p.Pro3976Ala)
c.3637C>G (p.Pro1213Ala)
c.11812C>G (p.Pro3938Ala)
c.11911C>G (p.Pro3971Ala)
c.11668C>G (p.Pro3890Ala)
c.11443C>G (p.Pro3815Ala)
c.9442C>G (p.Pro3148Ala)
c.8671C>G (p.Pro2891Ala)
c.6043C>G (p.Pro2015Ala)
c.5092C>G (p.Pro1698Ala)
15g.28141521G=CA2166479881HERC2c.11926C= (p.Pro3976=)
c.3637C= (p.Pro1213=)
c.11812C= (p.Pro3938=)
c.11911C= (p.Pro3971=)
c.11668C= (p.Pro3890=)
c.11443C= (p.Pro3815=)
c.9442C= (p.Pro3148=)
c.8671C= (p.Pro2891=)
c.6043C= (p.Pro2015=)
c.5092C= (p.Pro1698=)
15g.28141521G>TCA391381295HERC2c.11926C>A (p.Pro3976Thr)
c.3637C>A (p.Pro1213Thr)
c.11812C>A (p.Pro3938Thr)
c.11911C>A (p.Pro3971Thr)
c.11668C>A (p.Pro3890Thr)
c.11443C>A (p.Pro3815Thr)
c.9442C>A (p.Pro3148Thr)
c.8671C>A (p.Pro2891Thr)
c.6043C>A (p.Pro2015Thr)
c.5092C>A (p.Pro1698Thr)
15g.28141522A>CCA489234739HERC2c.11925T>G (p.Val3975=)
c.3636T>G (p.Val1212=)
c.11811T>G (p.Val3937=)
c.11910T>G (p.Val3970=)
c.11667T>G (p.Val3889=)
c.11442T>G (p.Val3814=)
c.9441T>G (p.Val3147=)
c.8670T>G (p.Val2890=)
c.6042T>G (p.Val2014=)
c.5091T>G (p.Val1697=)
15g.28141522A>GCA489234741HERC2c.11925T>C (p.Val3975=)
c.3636T>C (p.Val1212=)
c.11811T>C (p.Val3937=)
c.11910T>C (p.Val3970=)
c.11667T>C (p.Val3889=)
c.11442T>C (p.Val3814=)
c.9441T>C (p.Val3147=)
c.8670T>C (p.Val2890=)
c.6042T>C (p.Val2014=)
c.5091T>C (p.Val1697=)
15g.28141522A>TCA489234740HERC2c.11925T>A (p.Val3975=)
c.3636T>A (p.Val1212=)
c.11811T>A (p.Val3937=)
c.11910T>A (p.Val3970=)
c.11667T>A (p.Val3889=)
c.11442T>A (p.Val3814=)
c.9441T>A (p.Val3147=)
c.8670T>A (p.Val2890=)
c.6042T>A (p.Val2014=)
c.5091T>A (p.Val1697=)
15g.28141523A>CCA391381296HERC2c.11924T>G (p.Val3975Gly)
c.3635T>G (p.Val1212Gly)
c.11810T>G (p.Val3937Gly)
c.11909T>G (p.Val3970Gly)
c.11666T>G (p.Val3889Gly)
c.11441T>G (p.Val3814Gly)
c.9440T>G (p.Val3147Gly)
c.8669T>G (p.Val2890Gly)
c.6041T>G (p.Val2014Gly)
c.5090T>G (p.Val1697Gly)
15g.28141523A>GCA391381298HERC2c.11924T>C (p.Val3975Ala)
c.3635T>C (p.Val1212Ala)
c.11810T>C (p.Val3937Ala)
c.11909T>C (p.Val3970Ala)
c.11666T>C (p.Val3889Ala)
c.11441T>C (p.Val3814Ala)
c.9440T>C (p.Val3147Ala)
c.8669T>C (p.Val2890Ala)
c.6041T>C (p.Val2014Ala)
c.5090T>C (p.Val1697Ala)
15g.28141523A>TCA391381299HERC2c.11924T>A (p.Val3975Asp)
c.3635T>A (p.Val1212Asp)
c.11810T>A (p.Val3937Asp)
c.11909T>A (p.Val3970Asp)
c.11666T>A (p.Val3889Asp)
c.11441T>A (p.Val3814Asp)
c.9440T>A (p.Val3147Asp)
c.8669T>A (p.Val2890Asp)
c.6041T>A (p.Val2014Asp)
c.5090T>A (p.Val1697Asp)
15g.28141524C>ACA391381301HERC2c.11923G>T (p.Val3975Phe)
c.3634G>T (p.Val1212Phe)
c.11809G>T (p.Val3937Phe)
c.11908G>T (p.Val3970Phe)
c.11665G>T (p.Val3889Phe)
c.11440G>T (p.Val3814Phe)
c.9439G>T (p.Val3147Phe)
c.8668G>T (p.Val2890Phe)
c.6040G>T (p.Val2014Phe)
c.5089G>T (p.Val1697Phe)
15g.28141524C=CA2166479882HERC2c.11923G= (p.Val3975=)
c.3634G= (p.Val1212=)
c.11809G= (p.Val3937=)
c.11908G= (p.Val3970=)
c.11665G= (p.Val3889=)
c.11440G= (p.Val3814=)
c.9439G= (p.Val3147=)
c.8668G= (p.Val2890=)
c.6040G= (p.Val2014=)
c.5089G= (p.Val1697=)
15g.28141524C>GCA7440432HERC2c.11923G>C (p.Val3975Leu)
c.3634G>C (p.Val1212Leu)
c.11809G>C (p.Val3937Leu)
c.11908G>C (p.Val3970Leu)
c.11665G>C (p.Val3889Leu)
c.11440G>C (p.Val3814Leu)
c.9439G>C (p.Val3147Leu)
c.8668G>C (p.Val2890Leu)
c.6040G>C (p.Val2014Leu)
c.5089G>C (p.Val1697Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141524C>TCA391381304HERC2c.11923G>A (p.Val3975Ile)
c.3634G>A (p.Val1212Ile)
c.11809G>A (p.Val3937Ile)
c.11908G>A (p.Val3970Ile)
c.11665G>A (p.Val3889Ile)
c.11440G>A (p.Val3814Ile)
c.9439G>A (p.Val3147Ile)
c.8668G>A (p.Val2890Ile)
c.6040G>A (p.Val2014Ile)
c.5089G>A (p.Val1697Ile)
15g.28141525T>ACA391381308HERC2c.11922A>T (p.Lys3974Asn)
c.3633A>T (p.Lys1211Asn)
c.11808A>T (p.Lys3936Asn)
c.11907A>T (p.Lys3969Asn)
c.11664A>T (p.Lys3888Asn)
c.11439A>T (p.Lys3813Asn)
c.9438A>T (p.Lys3146Asn)
c.8667A>T (p.Lys2889Asn)
c.6039A>T (p.Lys2013Asn)
c.5088A>T (p.Lys1696Asn)
15g.28141525T>CCA489234743HERC2c.11922A>G (p.Lys3974=)
c.3633A>G (p.Lys1211=)
c.11808A>G (p.Lys3936=)
c.11907A>G (p.Lys3969=)
c.11664A>G (p.Lys3888=)
c.11439A>G (p.Lys3813=)
c.9438A>G (p.Lys3146=)
c.8667A>G (p.Lys2889=)
c.6039A>G (p.Lys2013=)
c.5088A>G (p.Lys1696=)
15g.28141525T>GCA391381307HERC2c.11922A>C (p.Lys3974Asn)
c.3633A>C (p.Lys1211Asn)
c.11808A>C (p.Lys3936Asn)
c.11907A>C (p.Lys3969Asn)
c.11664A>C (p.Lys3888Asn)
c.11439A>C (p.Lys3813Asn)
c.9438A>C (p.Lys3146Asn)
c.8667A>C (p.Lys2889Asn)
c.6039A>C (p.Lys2013Asn)
c.5088A>C (p.Lys1696Asn)
15g.28141526T>ACA391381309HERC2c.11921A>T (p.Lys3974Ile)
c.3632A>T (p.Lys1211Ile)
c.11807A>T (p.Lys3936Ile)
c.11906A>T (p.Lys3969Ile)
c.11663A>T (p.Lys3888Ile)
c.11438A>T (p.Lys3813Ile)
c.9437A>T (p.Lys3146Ile)
c.8666A>T (p.Lys2889Ile)
c.6038A>T (p.Lys2013Ile)
c.5087A>T (p.Lys1696Ile)
15g.28141526T>CCA391381311HERC2c.11921A>G (p.Lys3974Arg)
c.3632A>G (p.Lys1211Arg)
c.11807A>G (p.Lys3936Arg)
c.11906A>G (p.Lys3969Arg)
c.11663A>G (p.Lys3888Arg)
c.11438A>G (p.Lys3813Arg)
c.9437A>G (p.Lys3146Arg)
c.8666A>G (p.Lys2889Arg)
c.6038A>G (p.Lys2013Arg)
c.5087A>G (p.Lys1696Arg)
15g.28141526T>GCA391381313HERC2c.11921A>C (p.Lys3974Thr)
c.3632A>C (p.Lys1211Thr)
c.11807A>C (p.Lys3936Thr)
c.11906A>C (p.Lys3969Thr)
c.11663A>C (p.Lys3888Thr)
c.11438A>C (p.Lys3813Thr)
c.9437A>C (p.Lys3146Thr)
c.8666A>C (p.Lys2889Thr)
c.6038A>C (p.Lys2013Thr)
c.5087A>C (p.Lys1696Thr)
15g.28141527T>ACA391381315HERC2c.11920A>T (p.Lys3974Ter)
c.3631A>T (p.Lys1211Ter)
c.11806A>T (p.Lys3936Ter)
c.11905A>T (p.Lys3969Ter)
c.11662A>T (p.Lys3888Ter)
c.11437A>T (p.Lys3813Ter)
c.9436A>T (p.Lys3146Ter)
c.8665A>T (p.Lys2889Ter)
c.6037A>T (p.Lys2013Ter)
c.5086A>T (p.Lys1696Ter)
15g.28141527T>CCA391381316HERC2c.11920A>G (p.Lys3974Glu)
c.3631A>G (p.Lys1211Glu)
c.11806A>G (p.Lys3936Glu)
c.11905A>G (p.Lys3969Glu)
c.11662A>G (p.Lys3888Glu)
c.11437A>G (p.Lys3813Glu)
c.9436A>G (p.Lys3146Glu)
c.8665A>G (p.Lys2889Glu)
c.6037A>G (p.Lys2013Glu)
c.5086A>G (p.Lys1696Glu)
15g.28141527T>GCA391381318HERC2c.11920A>C (p.Lys3974Gln)
c.3631A>C (p.Lys1211Gln)
c.11806A>C (p.Lys3936Gln)
c.11905A>C (p.Lys3969Gln)
c.11662A>C (p.Lys3888Gln)
c.11437A>C (p.Lys3813Gln)
c.9436A>C (p.Lys3146Gln)
c.8665A>C (p.Lys2889Gln)
c.6037A>C (p.Lys2013Gln)
c.5086A>C (p.Lys1696Gln)
15g.28141528G>ACA267946096HERC2c.11919C>T (p.Val3973=)
c.3630C>T (p.Val1210=)
c.11805C>T (p.Val3935=)
c.11904C>T (p.Val3968=)
c.11661C>T (p.Val3887=)
c.11436C>T (p.Val3812=)
c.9435C>T (p.Val3145=)
c.8664C>T (p.Val2888=)
c.6036C>T (p.Val2012=)
c.5085C>T (p.Val1695=)
 dbSNP gnomAD v3 gnomAD v4
15g.28141528G>CCA489234745HERC2c.11919C>G (p.Val3973=)
c.3630C>G (p.Val1210=)
c.11805C>G (p.Val3935=)
c.11904C>G (p.Val3968=)
c.11661C>G (p.Val3887=)
c.11436C>G (p.Val3812=)
c.9435C>G (p.Val3145=)
c.8664C>G (p.Val2888=)
c.6036C>G (p.Val2012=)
c.5085C>G (p.Val1695=)
 COSMIC COSMIC
15g.28141528G=CA2166479885HERC2c.11919C= (p.Val3973=)
c.3630C= (p.Val1210=)
c.11805C= (p.Val3935=)
c.11904C= (p.Val3968=)
c.11661C= (p.Val3887=)
c.11436C= (p.Val3812=)
c.9435C= (p.Val3145=)
c.8664C= (p.Val2888=)
c.6036C= (p.Val2012=)
c.5085C= (p.Val1695=)
15g.28141528G>TCA489234747HERC2c.11919C>A (p.Val3973=)
c.3630C>A (p.Val1210=)
c.11805C>A (p.Val3935=)
c.11904C>A (p.Val3968=)
c.11661C>A (p.Val3887=)
c.11436C>A (p.Val3812=)
c.9435C>A (p.Val3145=)
c.8664C>A (p.Val2888=)
c.6036C>A (p.Val2012=)
c.5085C>A (p.Val1695=)
 COSMIC COSMIC
15g.28141529A>CCA391381319HERC2c.11918T>G (p.Val3973Gly)
c.3629T>G (p.Val1210Gly)
c.11804T>G (p.Val3935Gly)
c.11903T>G (p.Val3968Gly)
c.11660T>G (p.Val3887Gly)
c.11435T>G (p.Val3812Gly)
c.9434T>G (p.Val3145Gly)
c.8663T>G (p.Val2888Gly)
c.6035T>G (p.Val2012Gly)
c.5084T>G (p.Val1695Gly)
15g.28141529A>GCA391381321HERC2c.11918T>C (p.Val3973Ala)
c.3629T>C (p.Val1210Ala)
c.11804T>C (p.Val3935Ala)
c.11903T>C (p.Val3968Ala)
c.11660T>C (p.Val3887Ala)
c.11435T>C (p.Val3812Ala)
c.9434T>C (p.Val3145Ala)
c.8663T>C (p.Val2888Ala)
c.6035T>C (p.Val2012Ala)
c.5084T>C (p.Val1695Ala)
15g.28141529A>TCA391381322HERC2c.11918T>A (p.Val3973Asp)
c.3629T>A (p.Val1210Asp)
c.11804T>A (p.Val3935Asp)
c.11903T>A (p.Val3968Asp)
c.11660T>A (p.Val3887Asp)
c.11435T>A (p.Val3812Asp)
c.9434T>A (p.Val3145Asp)
c.8663T>A (p.Val2888Asp)
c.6035T>A (p.Val2012Asp)
c.5084T>A (p.Val1695Asp)
15g.28141530C>ACA391381324HERC2c.11917G>T (p.Val3973Phe)
c.3628G>T (p.Val1210Phe)
c.11803G>T (p.Val3935Phe)
c.11902G>T (p.Val3968Phe)
c.11659G>T (p.Val3887Phe)
c.11434G>T (p.Val3812Phe)
c.9433G>T (p.Val3145Phe)
c.8662G>T (p.Val2888Phe)
c.6034G>T (p.Val2012Phe)
c.5083G>T (p.Val1695Phe)
15g.28141530C=CA2166479887HERC2c.11917G= (p.Val3973=)
c.3628G= (p.Val1210=)
c.11803G= (p.Val3935=)
c.11902G= (p.Val3968=)
c.11659G= (p.Val3887=)
c.11434G= (p.Val3812=)
c.9433G= (p.Val3145=)
c.8662G= (p.Val2888=)
c.6034G= (p.Val2012=)
c.5083G= (p.Val1695=)
15g.28141530C>GCA391381325HERC2c.11917G>C (p.Val3973Leu)
c.3628G>C (p.Val1210Leu)
c.11803G>C (p.Val3935Leu)
c.11902G>C (p.Val3968Leu)
c.11659G>C (p.Val3887Leu)
c.11434G>C (p.Val3812Leu)
c.9433G>C (p.Val3145Leu)
c.8662G>C (p.Val2888Leu)
c.6034G>C (p.Val2012Leu)
c.5083G>C (p.Val1695Leu)
15g.28141530C>TCA391381327HERC2c.11917G>A (p.Val3973Ile)
c.3628G>A (p.Val1210Ile)
c.11803G>A (p.Val3935Ile)
c.11902G>A (p.Val3968Ile)
c.11659G>A (p.Val3887Ile)
c.11434G>A (p.Val3812Ile)
c.9433G>A (p.Val3145Ile)
c.8662G>A (p.Val2888Ile)
c.6034G>A (p.Val2012Ile)
c.5083G>A (p.Val1695Ile)
 dbSNP gnomAD v4
15g.28141531T>ACA391381331HERC2c.11916A>T (p.Lys3972Asn)
c.3627A>T (p.Lys1209Asn)
c.11802A>T (p.Lys3934Asn)
c.11901A>T (p.Lys3967Asn)
c.11658A>T (p.Lys3886Asn)
c.11433A>T (p.Lys3811Asn)
c.9432A>T (p.Lys3144Asn)
c.8661A>T (p.Lys2887Asn)
c.6033A>T (p.Lys2011Asn)
c.5082A>T (p.Lys1694Asn)
15g.28141531T>CCA489234750HERC2c.11916A>G (p.Lys3972=)
c.3627A>G (p.Lys1209=)
c.11802A>G (p.Lys3934=)
c.11901A>G (p.Lys3967=)
c.11658A>G (p.Lys3886=)
c.11433A>G (p.Lys3811=)
c.9432A>G (p.Lys3144=)
c.8661A>G (p.Lys2887=)
c.6033A>G (p.Lys2011=)
c.5082A>G (p.Lys1694=)
15g.28141531T>GCA391381329HERC2c.11916A>C (p.Lys3972Asn)
c.3627A>C (p.Lys1209Asn)
c.11802A>C (p.Lys3934Asn)
c.11901A>C (p.Lys3967Asn)
c.11658A>C (p.Lys3886Asn)
c.11433A>C (p.Lys3811Asn)
c.9432A>C (p.Lys3144Asn)
c.8661A>C (p.Lys2887Asn)
c.6033A>C (p.Lys2011Asn)
c.5082A>C (p.Lys1694Asn)
15g.28141532T>ACA391381333HERC2c.11915A>T (p.Lys3972Ile)
c.3626A>T (p.Lys1209Ile)
c.11801A>T (p.Lys3934Ile)
c.11900A>T (p.Lys3967Ile)
c.11657A>T (p.Lys3886Ile)
c.11432A>T (p.Lys3811Ile)
c.9431A>T (p.Lys3144Ile)
c.8660A>T (p.Lys2887Ile)
c.6032A>T (p.Lys2011Ile)
c.5081A>T (p.Lys1694Ile)
 dbSNP
15g.28141532T>CCA391381334HERC2c.11915A>G (p.Lys3972Arg)
c.3626A>G (p.Lys1209Arg)
c.11801A>G (p.Lys3934Arg)
c.11900A>G (p.Lys3967Arg)
c.11657A>G (p.Lys3886Arg)
c.11432A>G (p.Lys3811Arg)
c.9431A>G (p.Lys3144Arg)
c.8660A>G (p.Lys2887Arg)
c.6032A>G (p.Lys2011Arg)
c.5081A>G (p.Lys1694Arg)
 gnomAD v4
15g.28141532T>GCA391381335HERC2c.11915A>C (p.Lys3972Thr)
c.3626A>C (p.Lys1209Thr)
c.11801A>C (p.Lys3934Thr)
c.11900A>C (p.Lys3967Thr)
c.11657A>C (p.Lys3886Thr)
c.11432A>C (p.Lys3811Thr)
c.9431A>C (p.Lys3144Thr)
c.8660A>C (p.Lys2887Thr)
c.6032A>C (p.Lys2011Thr)
c.5081A>C (p.Lys1694Thr)
15g.28141532T=CA2166479889HERC2c.11915A= (p.Lys3972=)
c.3626A= (p.Lys1209=)
c.11801A= (p.Lys3934=)
c.11900A= (p.Lys3967=)
c.11657A= (p.Lys3886=)
c.11432A= (p.Lys3811=)
c.9431A= (p.Lys3144=)
c.8660A= (p.Lys2887=)
c.6032A= (p.Lys2011=)
c.5081A= (p.Lys1694=)
15g.28141533T>ACA391381339HERC2c.11914A>T (p.Lys3972Ter)
c.3625A>T (p.Lys1209Ter)
c.11800A>T (p.Lys3934Ter)
c.11899A>T (p.Lys3967Ter)
c.11656A>T (p.Lys3886Ter)
c.11431A>T (p.Lys3811Ter)
c.9430A>T (p.Lys3144Ter)
c.8659A>T (p.Lys2887Ter)
c.6031A>T (p.Lys2011Ter)
c.5080A>T (p.Lys1694Ter)
15g.28141533T>CCA391381340HERC2c.11914A>G (p.Lys3972Glu)
c.3625A>G (p.Lys1209Glu)
c.11800A>G (p.Lys3934Glu)
c.11899A>G (p.Lys3967Glu)
c.11656A>G (p.Lys3886Glu)
c.11431A>G (p.Lys3811Glu)
c.9430A>G (p.Lys3144Glu)
c.8659A>G (p.Lys2887Glu)
c.6031A>G (p.Lys2011Glu)
c.5080A>G (p.Lys1694Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.28141533T>GCA391381342HERC2c.11914A>C (p.Lys3972Gln)
c.3625A>C (p.Lys1209Gln)
c.11800A>C (p.Lys3934Gln)
c.11899A>C (p.Lys3967Gln)
c.11656A>C (p.Lys3886Gln)
c.11431A>C (p.Lys3811Gln)
c.9430A>C (p.Lys3144Gln)
c.8659A>C (p.Lys2887Gln)
c.6031A>C (p.Lys2011Gln)
c.5080A>C (p.Lys1694Gln)
15g.28141533T=CA2166479890HERC2c.11914A= (p.Lys3972=)
c.3625A= (p.Lys1209=)
c.11800A= (p.Lys3934=)
c.11899A= (p.Lys3967=)
c.11656A= (p.Lys3886=)
c.11431A= (p.Lys3811=)
c.9430A= (p.Lys3144=)
c.8659A= (p.Lys2887=)
c.6031A= (p.Lys2011=)
c.5080A= (p.Lys1694=)
15g.28141534T>ACA489234755HERC2c.11913A>T (p.Ala3971=)
c.3624A>T (p.Ala1208=)
c.11799A>T (p.Ala3933=)
c.11898A>T (p.Ala3966=)
c.11655A>T (p.Ala3885=)
c.11430A>T (p.Ala3810=)
c.9429A>T (p.Ala3143=)
c.8658A>T (p.Ala2886=)
c.6030A>T (p.Ala2010=)
c.5079A>T (p.Ala1693=)
15g.28141534T>CCA489234756HERC2c.11913A>G (p.Ala3971=)
c.3624A>G (p.Ala1208=)
c.11799A>G (p.Ala3933=)
c.11898A>G (p.Ala3966=)
c.11655A>G (p.Ala3885=)
c.11430A>G (p.Ala3810=)
c.9429A>G (p.Ala3143=)
c.8658A>G (p.Ala2886=)
c.6030A>G (p.Ala2010=)
c.5079A>G (p.Ala1693=)
15g.28141534T>GCA489234758HERC2c.11913A>C (p.Ala3971=)
c.3624A>C (p.Ala1208=)
c.11799A>C (p.Ala3933=)
c.11898A>C (p.Ala3966=)
c.11655A>C (p.Ala3885=)
c.11430A>C (p.Ala3810=)
c.9429A>C (p.Ala3143=)
c.8658A>C (p.Ala2886=)
c.6030A>C (p.Ala2010=)
c.5079A>C (p.Ala1693=)
 dbSNP gnomAD v2 gnomAD v4
15g.28141534T=CA2166479892HERC2c.11913A= (p.Ala3971=)
c.3624A= (p.Ala1208=)
c.11799A= (p.Ala3933=)
c.11898A= (p.Ala3966=)
c.11655A= (p.Ala3885=)
c.11430A= (p.Ala3810=)
c.9429A= (p.Ala3143=)
c.8658A= (p.Ala2886=)
c.6030A= (p.Ala2010=)
c.5079A= (p.Ala1693=)
15g.28141535G>ACA391381344HERC2c.11912C>T (p.Ala3971Val)
c.3623C>T (p.Ala1208Val)
c.11798C>T (p.Ala3933Val)
c.11897C>T (p.Ala3966Val)
c.11654C>T (p.Ala3885Val)
c.11429C>T (p.Ala3810Val)
c.9428C>T (p.Ala3143Val)
c.8657C>T (p.Ala2886Val)
c.6029C>T (p.Ala2010Val)
c.5078C>T (p.Ala1693Val)
15g.28141535G>CCA391381346HERC2c.11912C>G (p.Ala3971Gly)
c.3623C>G (p.Ala1208Gly)
c.11798C>G (p.Ala3933Gly)
c.11897C>G (p.Ala3966Gly)
c.11654C>G (p.Ala3885Gly)
c.11429C>G (p.Ala3810Gly)
c.9428C>G (p.Ala3143Gly)
c.8657C>G (p.Ala2886Gly)
c.6029C>G (p.Ala2010Gly)
c.5078C>G (p.Ala1693Gly)
 gnomAD v4
15g.28141535G>TCA391381348HERC2c.11912C>A (p.Ala3971Glu)
c.3623C>A (p.Ala1208Glu)
c.11798C>A (p.Ala3933Glu)
c.11897C>A (p.Ala3966Glu)
c.11654C>A (p.Ala3885Glu)
c.11429C>A (p.Ala3810Glu)
c.9428C>A (p.Ala3143Glu)
c.8657C>A (p.Ala2886Glu)
c.6029C>A (p.Ala2010Glu)
c.5078C>A (p.Ala1693Glu)

Number of alleles fetched