Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
15g.28141536C>ACA391381350HERC2c.11911G>T (p.Ala3971Ser)
c.3622G>T (p.Ala1208Ser)
c.11797G>T (p.Ala3933Ser)
c.11896G>T (p.Ala3966Ser)
c.11653G>T (p.Ala3885Ser)
c.11428G>T (p.Ala3810Ser)
c.9427G>T (p.Ala3143Ser)
c.8656G>T (p.Ala2886Ser)
c.6028G>T (p.Ala2010Ser)
c.5077G>T (p.Ala1693Ser)
 gnomAD v4
15g.28141536C=CA2166479896HERC2c.11911G= (p.Ala3971=)
c.3622G= (p.Ala1208=)
c.11797G= (p.Ala3933=)
c.11896G= (p.Ala3966=)
c.11653G= (p.Ala3885=)
c.11428G= (p.Ala3810=)
c.9427G= (p.Ala3143=)
c.8656G= (p.Ala2886=)
c.6028G= (p.Ala2010=)
c.5077G= (p.Ala1693=)
15g.28141536C>GCA391381351HERC2c.11911G>C (p.Ala3971Pro)
c.3622G>C (p.Ala1208Pro)
c.11797G>C (p.Ala3933Pro)
c.11896G>C (p.Ala3966Pro)
c.11653G>C (p.Ala3885Pro)
c.11428G>C (p.Ala3810Pro)
c.9427G>C (p.Ala3143Pro)
c.8656G>C (p.Ala2886Pro)
c.6028G>C (p.Ala2010Pro)
c.5077G>C (p.Ala1693Pro)
15g.28141536C>TCA7440433HERC2c.11911G>A (p.Ala3971Thr)
c.3622G>A (p.Ala1208Thr)
c.11797G>A (p.Ala3933Thr)
c.11896G>A (p.Ala3966Thr)
c.11653G>A (p.Ala3885Thr)
c.11428G>A (p.Ala3810Thr)
c.9427G>A (p.Ala3143Thr)
c.8656G>A (p.Ala2886Thr)
c.6028G>A (p.Ala2010Thr)
c.5077G>A (p.Ala1693Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141537G>ACA267946100HERC2c.11910C>T (p.Gly3970=)
c.3621C>T (p.Gly1207=)
c.11796C>T (p.Gly3932=)
c.11895C>T (p.Gly3965=)
c.11652C>T (p.Gly3884=)
c.11427C>T (p.Gly3809=)
c.9426C>T (p.Gly3142=)
c.8655C>T (p.Gly2885=)
c.6027C>T (p.Gly2009=)
c.5076C>T (p.Gly1692=)
 dbSNP gnomAD v3 gnomAD v4
15g.28141537G>CCA489234761HERC2c.11910C>G (p.Gly3970=)
c.3621C>G (p.Gly1207=)
c.11796C>G (p.Gly3932=)
c.11895C>G (p.Gly3965=)
c.11652C>G (p.Gly3884=)
c.11427C>G (p.Gly3809=)
c.9426C>G (p.Gly3142=)
c.8655C>G (p.Gly2885=)
c.6027C>G (p.Gly2009=)
c.5076C>G (p.Gly1692=)
 gnomAD v4
15g.28141537G=CA2166479899HERC2c.11910C= (p.Gly3970=)
c.3621C= (p.Gly1207=)
c.11796C= (p.Gly3932=)
c.11895C= (p.Gly3965=)
c.11652C= (p.Gly3884=)
c.11427C= (p.Gly3809=)
c.9426C= (p.Gly3142=)
c.8655C= (p.Gly2885=)
c.6027C= (p.Gly2009=)
c.5076C= (p.Gly1692=)
15g.28141537G>TCA7440434HERC2c.11910C>A (p.Gly3970=)
c.3621C>A (p.Gly1207=)
c.11796C>A (p.Gly3932=)
c.11895C>A (p.Gly3965=)
c.11652C>A (p.Gly3884=)
c.11427C>A (p.Gly3809=)
c.9426C>A (p.Gly3142=)
c.8655C>A (p.Gly2885=)
c.6027C>A (p.Gly2009=)
c.5076C>A (p.Gly1692=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141538C>ACA391381360HERC2c.11909G>T (p.Gly3970Val)
c.3620G>T (p.Gly1207Val)
c.11795G>T (p.Gly3932Val)
c.11894G>T (p.Gly3965Val)
c.11651G>T (p.Gly3884Val)
c.11426G>T (p.Gly3809Val)
c.9425G>T (p.Gly3142Val)
c.8654G>T (p.Gly2885Val)
c.6026G>T (p.Gly2009Val)
c.5075G>T (p.Gly1692Val)
15g.28141538C>GCA391381362HERC2c.11909G>C (p.Gly3970Ala)
c.3620G>C (p.Gly1207Ala)
c.11795G>C (p.Gly3932Ala)
c.11894G>C (p.Gly3965Ala)
c.11651G>C (p.Gly3884Ala)
c.11426G>C (p.Gly3809Ala)
c.9425G>C (p.Gly3142Ala)
c.8654G>C (p.Gly2885Ala)
c.6026G>C (p.Gly2009Ala)
c.5075G>C (p.Gly1692Ala)
15g.28141538C>TCA391381355HERC2c.11909G>A (p.Gly3970Asp)
c.3620G>A (p.Gly1207Asp)
c.11795G>A (p.Gly3932Asp)
c.11894G>A (p.Gly3965Asp)
c.11651G>A (p.Gly3884Asp)
c.11426G>A (p.Gly3809Asp)
c.9425G>A (p.Gly3142Asp)
c.8654G>A (p.Gly2885Asp)
c.6026G>A (p.Gly2009Asp)
c.5075G>A (p.Gly1692Asp)
15g.28141539C>ACA391381368HERC2c.11908G>T (p.Gly3970Cys)
c.3619G>T (p.Gly1207Cys)
c.11794G>T (p.Gly3932Cys)
c.11893G>T (p.Gly3965Cys)
c.11650G>T (p.Gly3884Cys)
c.11425G>T (p.Gly3809Cys)
c.9424G>T (p.Gly3142Cys)
c.8653G>T (p.Gly2885Cys)
c.6025G>T (p.Gly2009Cys)
c.5074G>T (p.Gly1692Cys)
15g.28141539C>GCA391381365HERC2c.11908G>C (p.Gly3970Arg)
c.3619G>C (p.Gly1207Arg)
c.11794G>C (p.Gly3932Arg)
c.11893G>C (p.Gly3965Arg)
c.11650G>C (p.Gly3884Arg)
c.11425G>C (p.Gly3809Arg)
c.9424G>C (p.Gly3142Arg)
c.8653G>C (p.Gly2885Arg)
c.6025G>C (p.Gly2009Arg)
c.5074G>C (p.Gly1692Arg)
15g.28141539C>TCA391381367HERC2c.11908G>A (p.Gly3970Ser)
c.3619G>A (p.Gly1207Ser)
c.11794G>A (p.Gly3932Ser)
c.11893G>A (p.Gly3965Ser)
c.11650G>A (p.Gly3884Ser)
c.11425G>A (p.Gly3809Ser)
c.9424G>A (p.Gly3142Ser)
c.8653G>A (p.Gly2885Ser)
c.6025G>A (p.Gly2009Ser)
c.5074G>A (p.Gly1692Ser)
 gnomAD v4
15g.28141540T>ACA391381371HERC2c.11907A>T (p.Glu3969Asp)
c.3618A>T (p.Glu1206Asp)
c.11793A>T (p.Glu3931Asp)
c.11892A>T (p.Glu3964Asp)
c.11649A>T (p.Glu3883Asp)
c.11424A>T (p.Glu3808Asp)
c.9423A>T (p.Glu3141Asp)
c.8652A>T (p.Glu2884Asp)
c.6024A>T (p.Glu2008Asp)
c.5073A>T (p.Glu1691Asp)
15g.28141540T>CCA489234763HERC2c.11907A>G (p.Glu3969=)
c.3618A>G (p.Glu1206=)
c.11793A>G (p.Glu3931=)
c.11892A>G (p.Glu3964=)
c.11649A>G (p.Glu3883=)
c.11424A>G (p.Glu3808=)
c.9423A>G (p.Glu3141=)
c.8652A>G (p.Glu2884=)
c.6024A>G (p.Glu2008=)
c.5073A>G (p.Glu1691=)
15g.28141540T>GCA391381372HERC2c.11907A>C (p.Glu3969Asp)
c.3618A>C (p.Glu1206Asp)
c.11793A>C (p.Glu3931Asp)
c.11892A>C (p.Glu3964Asp)
c.11649A>C (p.Glu3883Asp)
c.11424A>C (p.Glu3808Asp)
c.9423A>C (p.Glu3141Asp)
c.8652A>C (p.Glu2884Asp)
c.6024A>C (p.Glu2008Asp)
c.5073A>C (p.Glu1691Asp)
15g.28141541T>ACA391381374HERC2c.11906A>T (p.Glu3969Val)
c.3617A>T (p.Glu1206Val)
c.11792A>T (p.Glu3931Val)
c.11891A>T (p.Glu3964Val)
c.11648A>T (p.Glu3883Val)
c.11423A>T (p.Glu3808Val)
c.9422A>T (p.Glu3141Val)
c.8651A>T (p.Glu2884Val)
c.6023A>T (p.Glu2008Val)
c.5072A>T (p.Glu1691Val)
15g.28141541T>CCA391381375HERC2c.11906A>G (p.Glu3969Gly)
c.3617A>G (p.Glu1206Gly)
c.11792A>G (p.Glu3931Gly)
c.11891A>G (p.Glu3964Gly)
c.11648A>G (p.Glu3883Gly)
c.11423A>G (p.Glu3808Gly)
c.9422A>G (p.Glu3141Gly)
c.8651A>G (p.Glu2884Gly)
c.6023A>G (p.Glu2008Gly)
c.5072A>G (p.Glu1691Gly)
 gnomAD v4
15g.28141541T>GCA391381377HERC2c.11906A>C (p.Glu3969Ala)
c.3617A>C (p.Glu1206Ala)
c.11792A>C (p.Glu3931Ala)
c.11891A>C (p.Glu3964Ala)
c.11648A>C (p.Glu3883Ala)
c.11423A>C (p.Glu3808Ala)
c.9422A>C (p.Glu3141Ala)
c.8651A>C (p.Glu2884Ala)
c.6023A>C (p.Glu2008Ala)
c.5072A>C (p.Glu1691Ala)
15g.28141542C>ACA391381379HERC2c.11905G>T (p.Glu3969Ter)
c.3616G>T (p.Glu1206Ter)
c.11791G>T (p.Glu3931Ter)
c.11890G>T (p.Glu3964Ter)
c.11647G>T (p.Glu3883Ter)
c.11422G>T (p.Glu3808Ter)
c.9421G>T (p.Glu3141Ter)
c.8650G>T (p.Glu2884Ter)
c.6022G>T (p.Glu2008Ter)
c.5071G>T (p.Glu1691Ter)
15g.28141542C>GCA391381382HERC2c.11905G>C (p.Glu3969Gln)
c.3616G>C (p.Glu1206Gln)
c.11791G>C (p.Glu3931Gln)
c.11890G>C (p.Glu3964Gln)
c.11647G>C (p.Glu3883Gln)
c.11422G>C (p.Glu3808Gln)
c.9421G>C (p.Glu3141Gln)
c.8650G>C (p.Glu2884Gln)
c.6022G>C (p.Glu2008Gln)
c.5071G>C (p.Glu1691Gln)
15g.28141542C>TCA391381380HERC2c.11905G>A (p.Glu3969Lys)
c.3616G>A (p.Glu1206Lys)
c.11791G>A (p.Glu3931Lys)
c.11890G>A (p.Glu3964Lys)
c.11647G>A (p.Glu3883Lys)
c.11422G>A (p.Glu3808Lys)
c.9421G>A (p.Glu3141Lys)
c.8650G>A (p.Glu2884Lys)
c.6022G>A (p.Glu2008Lys)
c.5071G>A (p.Glu1691Lys)
15g.28141543A>CCA391381384HERC2c.11904T>G (p.Ile3968Met)
c.3615T>G (p.Ile1205Met)
c.11790T>G (p.Ile3930Met)
c.11889T>G (p.Ile3963Met)
c.11646T>G (p.Ile3882Met)
c.11421T>G (p.Ile3807Met)
c.9420T>G (p.Ile3140Met)
c.8649T>G (p.Ile2883Met)
c.6021T>G (p.Ile2007Met)
c.5070T>G (p.Ile1690Met)
15g.28141543A>GCA489234765HERC2c.11904T>C (p.Ile3968=)
c.3615T>C (p.Ile1205=)
c.11790T>C (p.Ile3930=)
c.11889T>C (p.Ile3963=)
c.11646T>C (p.Ile3882=)
c.11421T>C (p.Ile3807=)
c.9420T>C (p.Ile3140=)
c.8649T>C (p.Ile2883=)
c.6021T>C (p.Ile2007=)
c.5070T>C (p.Ile1690=)
 gnomAD v4
15g.28141543A>TCA489234764HERC2c.11904T>A (p.Ile3968=)
c.3615T>A (p.Ile1205=)
c.11790T>A (p.Ile3930=)
c.11889T>A (p.Ile3963=)
c.11646T>A (p.Ile3882=)
c.11421T>A (p.Ile3807=)
c.9420T>A (p.Ile3140=)
c.8649T>A (p.Ile2883=)
c.6021T>A (p.Ile2007=)
c.5070T>A (p.Ile1690=)
15g.28141544A=CA2166479902HERC2c.11903T= (p.Ile3968=)
c.3614T= (p.Ile1205=)
c.11789T= (p.Ile3930=)
c.11888T= (p.Ile3963=)
c.11645T= (p.Ile3882=)
c.11420T= (p.Ile3807=)
c.9419T= (p.Ile3140=)
c.8648T= (p.Ile2883=)
c.6020T= (p.Ile2007=)
c.5069T= (p.Ile1690=)
15g.28141544A>CCA391381386HERC2c.11903T>G (p.Ile3968Ser)
c.3614T>G (p.Ile1205Ser)
c.11789T>G (p.Ile3930Ser)
c.11888T>G (p.Ile3963Ser)
c.11645T>G (p.Ile3882Ser)
c.11420T>G (p.Ile3807Ser)
c.9419T>G (p.Ile3140Ser)
c.8648T>G (p.Ile2883Ser)
c.6020T>G (p.Ile2007Ser)
c.5069T>G (p.Ile1690Ser)
15g.28141544A>GCA391381388HERC2c.11903T>C (p.Ile3968Thr)
c.3614T>C (p.Ile1205Thr)
c.11789T>C (p.Ile3930Thr)
c.11888T>C (p.Ile3963Thr)
c.11645T>C (p.Ile3882Thr)
c.11420T>C (p.Ile3807Thr)
c.9419T>C (p.Ile3140Thr)
c.8648T>C (p.Ile2883Thr)
c.6020T>C (p.Ile2007Thr)
c.5069T>C (p.Ile1690Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.28141544A>TCA391381390HERC2c.11903T>A (p.Ile3968Asn)
c.3614T>A (p.Ile1205Asn)
c.11789T>A (p.Ile3930Asn)
c.11888T>A (p.Ile3963Asn)
c.11645T>A (p.Ile3882Asn)
c.11420T>A (p.Ile3807Asn)
c.9419T>A (p.Ile3140Asn)
c.8648T>A (p.Ile2883Asn)
c.6020T>A (p.Ile2007Asn)
c.5069T>A (p.Ile1690Asn)
15g.28141545T>ACA391381392HERC2c.11902A>T (p.Ile3968Phe)
c.3613A>T (p.Ile1205Phe)
c.11788A>T (p.Ile3930Phe)
c.11887A>T (p.Ile3963Phe)
c.11644A>T (p.Ile3882Phe)
c.11419A>T (p.Ile3807Phe)
c.9418A>T (p.Ile3140Phe)
c.8647A>T (p.Ile2883Phe)
c.6019A>T (p.Ile2007Phe)
c.5068A>T (p.Ile1690Phe)
15g.28141545T>CCA391381395HERC2c.11902A>G (p.Ile3968Val)
c.3613A>G (p.Ile1205Val)
c.11788A>G (p.Ile3930Val)
c.11887A>G (p.Ile3963Val)
c.11644A>G (p.Ile3882Val)
c.11419A>G (p.Ile3807Val)
c.9418A>G (p.Ile3140Val)
c.8647A>G (p.Ile2883Val)
c.6019A>G (p.Ile2007Val)
c.5068A>G (p.Ile1690Val)
 gnomAD v4
15g.28141545T>GCA391381394HERC2c.11902A>C (p.Ile3968Leu)
c.3613A>C (p.Ile1205Leu)
c.11788A>C (p.Ile3930Leu)
c.11887A>C (p.Ile3963Leu)
c.11644A>C (p.Ile3882Leu)
c.11419A>C (p.Ile3807Leu)
c.9418A>C (p.Ile3140Leu)
c.8647A>C (p.Ile2883Leu)
c.6019A>C (p.Ile2007Leu)
c.5068A>C (p.Ile1690Leu)
 gnomAD v4
15g.28141546G>ACA489234766HERC2c.11901C>T (p.Gly3967=)
c.3612C>T (p.Gly1204=)
c.11787C>T (p.Gly3929=)
c.11886C>T (p.Gly3962=)
c.11643C>T (p.Gly3881=)
c.11418C>T (p.Gly3806=)
c.9417C>T (p.Gly3139=)
c.8646C>T (p.Gly2882=)
c.6018C>T (p.Gly2006=)
c.5067C>T (p.Gly1689=)
15g.28141546G>CCA489234767HERC2c.11901C>G (p.Gly3967=)
c.3612C>G (p.Gly1204=)
c.11787C>G (p.Gly3929=)
c.11886C>G (p.Gly3962=)
c.11643C>G (p.Gly3881=)
c.11418C>G (p.Gly3806=)
c.9417C>G (p.Gly3139=)
c.8646C>G (p.Gly2882=)
c.6018C>G (p.Gly2006=)
c.5067C>G (p.Gly1689=)
15g.28141546G>TCA489234768HERC2c.11901C>A (p.Gly3967=)
c.3612C>A (p.Gly1204=)
c.11787C>A (p.Gly3929=)
c.11886C>A (p.Gly3962=)
c.11643C>A (p.Gly3881=)
c.11418C>A (p.Gly3806=)
c.9417C>A (p.Gly3139=)
c.8646C>A (p.Gly2882=)
c.6018C>A (p.Gly2006=)
c.5067C>A (p.Gly1689=)
15g.28141547C>ACA391381397HERC2c.11900G>T (p.Gly3967Val)
c.3611G>T (p.Gly1204Val)
c.11786G>T (p.Gly3929Val)
c.11885G>T (p.Gly3962Val)
c.11642G>T (p.Gly3881Val)
c.11417G>T (p.Gly3806Val)
c.9416G>T (p.Gly3139Val)
c.8645G>T (p.Gly2882Val)
c.6017G>T (p.Gly2006Val)
c.5066G>T (p.Gly1689Val)
15g.28141547C=CA2166479904HERC2c.11900G= (p.Gly3967=)
c.3611G= (p.Gly1204=)
c.11786G= (p.Gly3929=)
c.11885G= (p.Gly3962=)
c.11642G= (p.Gly3881=)
c.11417G= (p.Gly3806=)
c.9416G= (p.Gly3139=)
c.8645G= (p.Gly2882=)
c.6017G= (p.Gly2006=)
c.5066G= (p.Gly1689=)
15g.28141547C>GCA391381399HERC2c.11900G>C (p.Gly3967Ala)
c.3611G>C (p.Gly1204Ala)
c.11786G>C (p.Gly3929Ala)
c.11885G>C (p.Gly3962Ala)
c.11642G>C (p.Gly3881Ala)
c.11417G>C (p.Gly3806Ala)
c.9416G>C (p.Gly3139Ala)
c.8645G>C (p.Gly2882Ala)
c.6017G>C (p.Gly2006Ala)
c.5066G>C (p.Gly1689Ala)
15g.28141547C>TCA391381400HERC2c.11900G>A (p.Gly3967Asp)
c.3611G>A (p.Gly1204Asp)
c.11786G>A (p.Gly3929Asp)
c.11885G>A (p.Gly3962Asp)
c.11642G>A (p.Gly3881Asp)
c.11417G>A (p.Gly3806Asp)
c.9416G>A (p.Gly3139Asp)
c.8645G>A (p.Gly2882Asp)
c.6017G>A (p.Gly2006Asp)
c.5066G>A (p.Gly1689Asp)
 dbSNP gnomAD v4
15g.28141551delCA2575653880HERC2c.11900del (p.Gly3967AlafsTer24)
c.3611del (p.Gly1204AlafsTer24)
c.11786del (p.Gly3929AlafsTer24)
c.11885del (p.Gly3962AlafsTer24)
c.11642del (p.Gly3881AlafsTer24)
c.11417del (p.Gly3806AlafsTer24)
c.9416del (p.Gly3139AlafsTer24)
c.8645del (p.Gly2882AlafsTer24)
c.6017del (p.Gly2006AlafsTer24)
c.5066del (p.Gly1689AlafsTer24)
15g.28141548C>ACA391381401HERC2c.11899G>T (p.Gly3967Cys)
c.3610G>T (p.Gly1204Cys)
c.11785G>T (p.Gly3929Cys)
c.11884G>T (p.Gly3962Cys)
c.11641G>T (p.Gly3881Cys)
c.11416G>T (p.Gly3806Cys)
c.9415G>T (p.Gly3139Cys)
c.8644G>T (p.Gly2882Cys)
c.6016G>T (p.Gly2006Cys)
c.5065G>T (p.Gly1689Cys)
15g.28141548C>GCA391381402HERC2c.11899G>C (p.Gly3967Arg)
c.3610G>C (p.Gly1204Arg)
c.11785G>C (p.Gly3929Arg)
c.11884G>C (p.Gly3962Arg)
c.11641G>C (p.Gly3881Arg)
c.11416G>C (p.Gly3806Arg)
c.9415G>C (p.Gly3139Arg)
c.8644G>C (p.Gly2882Arg)
c.6016G>C (p.Gly2006Arg)
c.5065G>C (p.Gly1689Arg)
 COSMIC COSMIC
15g.28141548C>TCA391381404HERC2c.11899G>A (p.Gly3967Ser)
c.3610G>A (p.Gly1204Ser)
c.11785G>A (p.Gly3929Ser)
c.11884G>A (p.Gly3962Ser)
c.11641G>A (p.Gly3881Ser)
c.11416G>A (p.Gly3806Ser)
c.9415G>A (p.Gly3139Ser)
c.8644G>A (p.Gly2882Ser)
c.6016G>A (p.Gly2006Ser)
c.5065G>A (p.Gly1689Ser)
15g.28141549C>ACA489234769HERC2c.11898G>T (p.Gly3966=)
c.3609G>T (p.Gly1203=)
c.11784G>T (p.Gly3928=)
c.11883G>T (p.Gly3961=)
c.11640G>T (p.Gly3880=)
c.11415G>T (p.Gly3805=)
c.9414G>T (p.Gly3138=)
c.8643G>T (p.Gly2881=)
c.6015G>T (p.Gly2005=)
c.5064G>T (p.Gly1688=)
15g.28141549C=CA2166479906HERC2c.11898G= (p.Gly3966=)
c.3609G= (p.Gly1203=)
c.11784G= (p.Gly3928=)
c.11883G= (p.Gly3961=)
c.11640G= (p.Gly3880=)
c.11415G= (p.Gly3805=)
c.9414G= (p.Gly3138=)
c.8643G= (p.Gly2881=)
c.6015G= (p.Gly2005=)
c.5064G= (p.Gly1688=)
15g.28141549C>GCA489234770HERC2c.11898G>C (p.Gly3966=)
c.3609G>C (p.Gly1203=)
c.11784G>C (p.Gly3928=)
c.11883G>C (p.Gly3961=)
c.11640G>C (p.Gly3880=)
c.11415G>C (p.Gly3805=)
c.9414G>C (p.Gly3138=)
c.8643G>C (p.Gly2881=)
c.6015G>C (p.Gly2005=)
c.5064G>C (p.Gly1688=)
15g.28141549C>TCA489234771HERC2c.11898G>A (p.Gly3966=)
c.3609G>A (p.Gly1203=)
c.11784G>A (p.Gly3928=)
c.11883G>A (p.Gly3961=)
c.11640G>A (p.Gly3880=)
c.11415G>A (p.Gly3805=)
c.9414G>A (p.Gly3138=)
c.8643G>A (p.Gly2881=)
c.6015G>A (p.Gly2005=)
c.5064G>A (p.Gly1688=)
 dbSNP gnomAD v4
15g.28141550C>ACA391381406HERC2c.11897G>T (p.Gly3966Val)
c.3608G>T (p.Gly1203Val)
c.11783G>T (p.Gly3928Val)
c.11882G>T (p.Gly3961Val)
c.11639G>T (p.Gly3880Val)
c.11414G>T (p.Gly3805Val)
c.9413G>T (p.Gly3138Val)
c.8642G>T (p.Gly2881Val)
c.6014G>T (p.Gly2005Val)
c.5063G>T (p.Gly1688Val)
15g.28141550C>GCA391381408HERC2c.11897G>C (p.Gly3966Ala)
c.3608G>C (p.Gly1203Ala)
c.11783G>C (p.Gly3928Ala)
c.11882G>C (p.Gly3961Ala)
c.11639G>C (p.Gly3880Ala)
c.11414G>C (p.Gly3805Ala)
c.9413G>C (p.Gly3138Ala)
c.8642G>C (p.Gly2881Ala)
c.6014G>C (p.Gly2005Ala)
c.5063G>C (p.Gly1688Ala)
15g.28141550C>TCA391381410HERC2c.11897G>A (p.Gly3966Glu)
c.3608G>A (p.Gly1203Glu)
c.11783G>A (p.Gly3928Glu)
c.11882G>A (p.Gly3961Glu)
c.11639G>A (p.Gly3880Glu)
c.11414G>A (p.Gly3805Glu)
c.9413G>A (p.Gly3138Glu)
c.8642G>A (p.Gly2881Glu)
c.6014G>A (p.Gly2005Glu)
c.5063G>A (p.Gly1688Glu)
15g.28141551C>ACA391381412HERC2c.11896G>T (p.Gly3966Trp)
c.3607G>T (p.Gly1203Trp)
c.11782G>T (p.Gly3928Trp)
c.11881G>T (p.Gly3961Trp)
c.11638G>T (p.Gly3880Trp)
c.11413G>T (p.Gly3805Trp)
c.9412G>T (p.Gly3138Trp)
c.8641G>T (p.Gly2881Trp)
c.6013G>T (p.Gly2005Trp)
c.5062G>T (p.Gly1688Trp)
15g.28141551C=CA2166479909HERC2c.11896G= (p.Gly3966=)
c.3607G= (p.Gly1203=)
c.11782G= (p.Gly3928=)
c.11881G= (p.Gly3961=)
c.11638G= (p.Gly3880=)
c.11413G= (p.Gly3805=)
c.9412G= (p.Gly3138=)
c.8641G= (p.Gly2881=)
c.6013G= (p.Gly2005=)
c.5062G= (p.Gly1688=)
15g.28141551C>GCA391381413HERC2c.11896G>C (p.Gly3966Arg)
c.3607G>C (p.Gly1203Arg)
c.11782G>C (p.Gly3928Arg)
c.11881G>C (p.Gly3961Arg)
c.11638G>C (p.Gly3880Arg)
c.11413G>C (p.Gly3805Arg)
c.9412G>C (p.Gly3138Arg)
c.8641G>C (p.Gly2881Arg)
c.6013G>C (p.Gly2005Arg)
c.5062G>C (p.Gly1688Arg)
15g.28141551C>TCA391381415HERC2c.11896G>A (p.Gly3966Arg)
c.3607G>A (p.Gly1203Arg)
c.11782G>A (p.Gly3928Arg)
c.11881G>A (p.Gly3961Arg)
c.11638G>A (p.Gly3880Arg)
c.11413G>A (p.Gly3805Arg)
c.9412G>A (p.Gly3138Arg)
c.8641G>A (p.Gly2881Arg)
c.6013G>A (p.Gly2005Arg)
c.5062G>A (p.Gly1688Arg)
 dbSNP gnomAD v2 gnomAD v4
15g.28141552G>ACA7440435HERC2c.11895C>T (p.Leu3965=)
c.3606C>T (p.Leu1202=)
c.11781C>T (p.Leu3927=)
c.11880C>T (p.Leu3960=)
c.11637C>T (p.Leu3879=)
c.11412C>T (p.Leu3804=)
c.9411C>T (p.Leu3137=)
c.8640C>T (p.Leu2880=)
c.6012C>T (p.Leu2004=)
c.5061C>T (p.Leu1687=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28141552G>CCA489234772HERC2c.11895C>G (p.Leu3965=)
c.3606C>G (p.Leu1202=)
c.11781C>G (p.Leu3927=)
c.11880C>G (p.Leu3960=)
c.11637C>G (p.Leu3879=)
c.11412C>G (p.Leu3804=)
c.9411C>G (p.Leu3137=)
c.8640C>G (p.Leu2880=)
c.6012C>G (p.Leu2004=)
c.5061C>G (p.Leu1687=)
15g.28141552G=CA2166479911HERC2c.11895C= (p.Leu3965=)
c.3606C= (p.Leu1202=)
c.11781C= (p.Leu3927=)
c.11880C= (p.Leu3960=)
c.11637C= (p.Leu3879=)
c.11412C= (p.Leu3804=)
c.9411C= (p.Leu3137=)
c.8640C= (p.Leu2880=)
c.6012C= (p.Leu2004=)
c.5061C= (p.Leu1687=)
15g.28141552G>TCA489234773HERC2c.11895C>A (p.Leu3965=)
c.3606C>A (p.Leu1202=)
c.11781C>A (p.Leu3927=)
c.11880C>A (p.Leu3960=)
c.11637C>A (p.Leu3879=)
c.11412C>A (p.Leu3804=)
c.9411C>A (p.Leu3137=)
c.8640C>A (p.Leu2880=)
c.6012C>A (p.Leu2004=)
c.5061C>A (p.Leu1687=)
15g.28141553A>CCA391381421HERC2c.11894T>G (p.Leu3965Arg)
c.3605T>G (p.Leu1202Arg)
c.11780T>G (p.Leu3927Arg)
c.11879T>G (p.Leu3960Arg)
c.11636T>G (p.Leu3879Arg)
c.11411T>G (p.Leu3804Arg)
c.9410T>G (p.Leu3137Arg)
c.8639T>G (p.Leu2880Arg)
c.6011T>G (p.Leu2004Arg)
c.5060T>G (p.Leu1687Arg)
15g.28141553A>GCA391381418HERC2c.11894T>C (p.Leu3965Pro)
c.3605T>C (p.Leu1202Pro)
c.11780T>C (p.Leu3927Pro)
c.11879T>C (p.Leu3960Pro)
c.11636T>C (p.Leu3879Pro)
c.11411T>C (p.Leu3804Pro)
c.9410T>C (p.Leu3137Pro)
c.8639T>C (p.Leu2880Pro)
c.6011T>C (p.Leu2004Pro)
c.5060T>C (p.Leu1687Pro)
15g.28141553A>TCA391381419HERC2c.11894T>A (p.Leu3965His)
c.3605T>A (p.Leu1202His)
c.11780T>A (p.Leu3927His)
c.11879T>A (p.Leu3960His)
c.11636T>A (p.Leu3879His)
c.11411T>A (p.Leu3804His)
c.9410T>A (p.Leu3137His)
c.8639T>A (p.Leu2880His)
c.6011T>A (p.Leu2004His)
c.5060T>A (p.Leu1687His)
15g.28141554G>ACA391381423HERC2c.11893C>T (p.Leu3965Phe)
c.3604C>T (p.Leu1202Phe)
c.11779C>T (p.Leu3927Phe)
c.11878C>T (p.Leu3960Phe)
c.11635C>T (p.Leu3879Phe)
c.11410C>T (p.Leu3804Phe)
c.9409C>T (p.Leu3137Phe)
c.8638C>T (p.Leu2880Phe)
c.6010C>T (p.Leu2004Phe)
c.5059C>T (p.Leu1687Phe)
 gnomAD v4
15g.28141554G>CCA391381425HERC2c.11893C>G (p.Leu3965Val)
c.3604C>G (p.Leu1202Val)
c.11779C>G (p.Leu3927Val)
c.11878C>G (p.Leu3960Val)
c.11635C>G (p.Leu3879Val)
c.11410C>G (p.Leu3804Val)
c.9409C>G (p.Leu3137Val)
c.8638C>G (p.Leu2880Val)
c.6010C>G (p.Leu2004Val)
c.5059C>G (p.Leu1687Val)
15g.28141554G>TCA391381426HERC2c.11893C>A (p.Leu3965Ile)
c.3604C>A (p.Leu1202Ile)
c.11779C>A (p.Leu3927Ile)
c.11878C>A (p.Leu3960Ile)
c.11635C>A (p.Leu3879Ile)
c.11410C>A (p.Leu3804Ile)
c.9409C>A (p.Leu3137Ile)
c.8638C>A (p.Leu2880Ile)
c.6010C>A (p.Leu2004Ile)
c.5059C>A (p.Leu1687Ile)
15g.28141555C>ACA391381428HERC2c.11892G>T (p.Gln3964His)
c.3603G>T (p.Gln1201His)
c.11778G>T (p.Gln3926His)
c.11877G>T (p.Gln3959His)
c.11634G>T (p.Gln3878His)
c.11409G>T (p.Gln3803His)
c.9408G>T (p.Gln3136His)
c.8637G>T (p.Gln2879His)
c.6009G>T (p.Gln2003His)
c.5058G>T (p.Gln1686His)
 gnomAD v4
15g.28141555C>GCA391381429HERC2c.11892G>C (p.Gln3964His)
c.3603G>C (p.Gln1201His)
c.11778G>C (p.Gln3926His)
c.11877G>C (p.Gln3959His)
c.11634G>C (p.Gln3878His)
c.11409G>C (p.Gln3803His)
c.9408G>C (p.Gln3136His)
c.8637G>C (p.Gln2879His)
c.6009G>C (p.Gln2003His)
c.5058G>C (p.Gln1686His)
15g.28141555C>TCA489234774HERC2c.11892G>A (p.Gln3964=)
c.3603G>A (p.Gln1201=)
c.11778G>A (p.Gln3926=)
c.11877G>A (p.Gln3959=)
c.11634G>A (p.Gln3878=)
c.11409G>A (p.Gln3803=)
c.9408G>A (p.Gln3136=)
c.8637G>A (p.Gln2879=)
c.6009G>A (p.Gln2003=)
c.5058G>A (p.Gln1686=)
15g.28141556T>ACA267946113HERC2c.11891A>T (p.Gln3964Leu)
c.3602A>T (p.Gln1201Leu)
c.11777A>T (p.Gln3926Leu)
c.11876A>T (p.Gln3959Leu)
c.11633A>T (p.Gln3878Leu)
c.11408A>T (p.Gln3803Leu)
c.9407A>T (p.Gln3136Leu)
c.8636A>T (p.Gln2879Leu)
c.6008A>T (p.Gln2003Leu)
c.5057A>T (p.Gln1686Leu)
 dbSNP
15g.28141556T>CCA391381432HERC2c.11891A>G (p.Gln3964Arg)
c.3602A>G (p.Gln1201Arg)
c.11777A>G (p.Gln3926Arg)
c.11876A>G (p.Gln3959Arg)
c.11633A>G (p.Gln3878Arg)
c.11408A>G (p.Gln3803Arg)
c.9407A>G (p.Gln3136Arg)
c.8636A>G (p.Gln2879Arg)
c.6008A>G (p.Gln2003Arg)
c.5057A>G (p.Gln1686Arg)
15g.28141556T>GCA391381433HERC2c.11891A>C (p.Gln3964Pro)
c.3602A>C (p.Gln1201Pro)
c.11777A>C (p.Gln3926Pro)
c.11876A>C (p.Gln3959Pro)
c.11633A>C (p.Gln3878Pro)
c.11408A>C (p.Gln3803Pro)
c.9407A>C (p.Gln3136Pro)
c.8636A>C (p.Gln2879Pro)
c.6008A>C (p.Gln2003Pro)
c.5057A>C (p.Gln1686Pro)
15g.28141556T=CA2166479915HERC2c.11891A= (p.Gln3964=)
c.3602A= (p.Gln1201=)
c.11777A= (p.Gln3926=)
c.11876A= (p.Gln3959=)
c.11633A= (p.Gln3878=)
c.11408A= (p.Gln3803=)
c.9407A= (p.Gln3136=)
c.8636A= (p.Gln2879=)
c.6008A= (p.Gln2003=)
c.5057A= (p.Gln1686=)
15g.28141557G>ACA391381435HERC2c.11890C>T (p.Gln3964Ter)
c.3601C>T (p.Gln1201Ter)
c.11776C>T (p.Gln3926Ter)
c.11875C>T (p.Gln3959Ter)
c.11632C>T (p.Gln3878Ter)
c.11407C>T (p.Gln3803Ter)
c.9406C>T (p.Gln3136Ter)
c.8635C>T (p.Gln2879Ter)
c.6007C>T (p.Gln2003Ter)
c.5056C>T (p.Gln1686Ter)
15g.28141557G>CCA391381436HERC2c.11890C>G (p.Gln3964Glu)
c.3601C>G (p.Gln1201Glu)
c.11776C>G (p.Gln3926Glu)
c.11875C>G (p.Gln3959Glu)
c.11632C>G (p.Gln3878Glu)
c.11407C>G (p.Gln3803Glu)
c.9406C>G (p.Gln3136Glu)
c.8635C>G (p.Gln2879Glu)
c.6007C>G (p.Gln2003Glu)
c.5056C>G (p.Gln1686Glu)
15g.28141557G>TCA391381437HERC2c.11890C>A (p.Gln3964Lys)
c.3601C>A (p.Gln1201Lys)
c.11776C>A (p.Gln3926Lys)
c.11875C>A (p.Gln3959Lys)
c.11632C>A (p.Gln3878Lys)
c.11407C>A (p.Gln3803Lys)
c.9406C>A (p.Gln3136Lys)
c.8635C>A (p.Gln2879Lys)
c.6007C>A (p.Gln2003Lys)
c.5056C>A (p.Gln1686Lys)
15g.28141558G>ACA489234776HERC2c.11889C>T (p.Gly3963=)
c.3600C>T (p.Gly1200=)
c.11775C>T (p.Gly3925=)
c.11874C>T (p.Gly3958=)
c.11631C>T (p.Gly3877=)
c.11406C>T (p.Gly3802=)
c.9405C>T (p.Gly3135=)
c.8634C>T (p.Gly2878=)
c.6006C>T (p.Gly2002=)
c.5055C>T (p.Gly1685=)
15g.28141558G>CCA489234775HERC2c.11889C>G (p.Gly3963=)
c.3600C>G (p.Gly1200=)
c.11775C>G (p.Gly3925=)
c.11874C>G (p.Gly3958=)
c.11631C>G (p.Gly3877=)
c.11406C>G (p.Gly3802=)
c.9405C>G (p.Gly3135=)
c.8634C>G (p.Gly2878=)
c.6006C>G (p.Gly2002=)
c.5055C>G (p.Gly1685=)
15g.28141558G>TCA489234777HERC2c.11889C>A (p.Gly3963=)
c.3600C>A (p.Gly1200=)
c.11775C>A (p.Gly3925=)
c.11874C>A (p.Gly3958=)
c.11631C>A (p.Gly3877=)
c.11406C>A (p.Gly3802=)
c.9405C>A (p.Gly3135=)
c.8634C>A (p.Gly2878=)
c.6006C>A (p.Gly2002=)
c.5055C>A (p.Gly1685=)
15g.28141559C>ACA391381440HERC2c.11888G>T (p.Gly3963Val)
c.3599G>T (p.Gly1200Val)
c.11774G>T (p.Gly3925Val)
c.11873G>T (p.Gly3958Val)
c.11630G>T (p.Gly3877Val)
c.11405G>T (p.Gly3802Val)
c.9404G>T (p.Gly3135Val)
c.8633G>T (p.Gly2878Val)
c.6005G>T (p.Gly2002Val)
c.5054G>T (p.Gly1685Val)
15g.28141559C>GCA391381441HERC2c.11888G>C (p.Gly3963Ala)
c.3599G>C (p.Gly1200Ala)
c.11774G>C (p.Gly3925Ala)
c.11873G>C (p.Gly3958Ala)
c.11630G>C (p.Gly3877Ala)
c.11405G>C (p.Gly3802Ala)
c.9404G>C (p.Gly3135Ala)
c.8633G>C (p.Gly2878Ala)
c.6005G>C (p.Gly2002Ala)
c.5054G>C (p.Gly1685Ala)
15g.28141559C>TCA391381438HERC2c.11888G>A (p.Gly3963Asp)
c.3599G>A (p.Gly1200Asp)
c.11774G>A (p.Gly3925Asp)
c.11873G>A (p.Gly3958Asp)
c.11630G>A (p.Gly3877Asp)
c.11405G>A (p.Gly3802Asp)
c.9404G>A (p.Gly3135Asp)
c.8633G>A (p.Gly2878Asp)
c.6005G>A (p.Gly2002Asp)
c.5054G>A (p.Gly1685Asp)
15g.28141560C>ACA391381443HERC2c.11887G>T (p.Gly3963Cys)
c.3598G>T (p.Gly1200Cys)
c.11773G>T (p.Gly3925Cys)
c.11872G>T (p.Gly3958Cys)
c.11629G>T (p.Gly3877Cys)
c.11404G>T (p.Gly3802Cys)
c.9403G>T (p.Gly3135Cys)
c.8632G>T (p.Gly2878Cys)
c.6004G>T (p.Gly2002Cys)
c.5053G>T (p.Gly1685Cys)
 gnomAD v4
15g.28141560C>GCA391381445HERC2c.11887G>C (p.Gly3963Arg)
c.3598G>C (p.Gly1200Arg)
c.11773G>C (p.Gly3925Arg)
c.11872G>C (p.Gly3958Arg)
c.11629G>C (p.Gly3877Arg)
c.11404G>C (p.Gly3802Arg)
c.9403G>C (p.Gly3135Arg)
c.8632G>C (p.Gly2878Arg)
c.6004G>C (p.Gly2002Arg)
c.5053G>C (p.Gly1685Arg)
15g.28141560C>TCA391381446HERC2c.11887G>A (p.Gly3963Ser)
c.3598G>A (p.Gly1200Ser)
c.11773G>A (p.Gly3925Ser)
c.11872G>A (p.Gly3958Ser)
c.11629G>A (p.Gly3877Ser)
c.11404G>A (p.Gly3802Ser)
c.9403G>A (p.Gly3135Ser)
c.8632G>A (p.Gly2878Ser)
c.6004G>A (p.Gly2002Ser)
c.5053G>A (p.Gly1685Ser)
15g.28141561C>ACA391381448HERC2c.11886G>T (p.Arg3962Ser)
c.3597G>T (p.Arg1199Ser)
c.11772G>T (p.Arg3924Ser)
c.11871G>T (p.Arg3957Ser)
c.11628G>T (p.Arg3876Ser)
c.11403G>T (p.Arg3801Ser)
c.9402G>T (p.Arg3134Ser)
c.8631G>T (p.Arg2877Ser)
c.6003G>T (p.Arg2001Ser)
c.5052G>T (p.Arg1684Ser)
15g.28141561C=CA2166479917HERC2c.11886G= (p.Arg3962=)
c.3597G= (p.Arg1199=)
c.11772G= (p.Arg3924=)
c.11871G= (p.Arg3957=)
c.11628G= (p.Arg3876=)
c.11403G= (p.Arg3801=)
c.9402G= (p.Arg3134=)
c.8631G= (p.Arg2877=)
c.6003G= (p.Arg2001=)
c.5052G= (p.Arg1684=)
15g.28141561C>GCA391381450HERC2c.11886G>C (p.Arg3962Ser)
c.3597G>C (p.Arg1199Ser)
c.11772G>C (p.Arg3924Ser)
c.11871G>C (p.Arg3957Ser)
c.11628G>C (p.Arg3876Ser)
c.11403G>C (p.Arg3801Ser)
c.9402G>C (p.Arg3134Ser)
c.8631G>C (p.Arg2877Ser)
c.6003G>C (p.Arg2001Ser)
c.5052G>C (p.Arg1684Ser)
15g.28141561C>TCA489234778HERC2c.11886G>A (p.Arg3962=)
c.3597G>A (p.Arg1199=)
c.11772G>A (p.Arg3924=)
c.11871G>A (p.Arg3957=)
c.11628G>A (p.Arg3876=)
c.11403G>A (p.Arg3801=)
c.9402G>A (p.Arg3134=)
c.8631G>A (p.Arg2877=)
c.6003G>A (p.Arg2001=)
c.5052G>A (p.Arg1684=)
 dbSNP gnomAD v4
15g.28141561_28141563delinsCCTCA2166479919HERC2c.11884_11886delinsAGG (p.Arg3962=)
c.3595_3597delinsAGG (p.Arg1199=)
c.11770_11772delinsAGG (p.Arg3924=)
c.11869_11871delinsAGG (p.Arg3957=)
c.11626_11628delinsAGG (p.Arg3876=)
c.11401_11403delinsAGG (p.Arg3801=)
c.9400_9402delinsAGG (p.Arg3134=)
c.8629_8631delinsAGG (p.Arg2877=)
c.6001_6003delinsAGG (p.Arg2001=)
c.5050_5052delinsAGG (p.Arg1684=)
15g.28141562C>ACA391381454HERC2c.11885G>T (p.Arg3962Met)
c.3596G>T (p.Arg1199Met)
c.11771G>T (p.Arg3924Met)
c.11870G>T (p.Arg3957Met)
c.11627G>T (p.Arg3876Met)
c.11402G>T (p.Arg3801Met)
c.9401G>T (p.Arg3134Met)
c.8630G>T (p.Arg2877Met)
c.6002G>T (p.Arg2001Met)
c.5051G>T (p.Arg1684Met)
15g.28141562C>GCA391381452HERC2c.11885G>C (p.Arg3962Thr)
c.3596G>C (p.Arg1199Thr)
c.11771G>C (p.Arg3924Thr)
c.11870G>C (p.Arg3957Thr)
c.11627G>C (p.Arg3876Thr)
c.11402G>C (p.Arg3801Thr)
c.9401G>C (p.Arg3134Thr)
c.8630G>C (p.Arg2877Thr)
c.6002G>C (p.Arg2001Thr)
c.5051G>C (p.Arg1684Thr)
15g.28141562C>TCA391381453HERC2c.11885G>A (p.Arg3962Lys)
c.3596G>A (p.Arg1199Lys)
c.11771G>A (p.Arg3924Lys)
c.11870G>A (p.Arg3957Lys)
c.11627G>A (p.Arg3876Lys)
c.11402G>A (p.Arg3801Lys)
c.9401G>A (p.Arg3134Lys)
c.8630G>A (p.Arg2877Lys)
c.6002G>A (p.Arg2001Lys)
c.5051G>A (p.Arg1684Lys)
15g.28141562_28141563delCA2166479922HERC2c.11884_11885del (p.Arg3962GlyfsTer7)
c.3595_3596del (p.Arg1199GlyfsTer7)
c.11770_11771del (p.Arg3924GlyfsTer7)
c.11869_11870del (p.Arg3957GlyfsTer7)
c.11626_11627del (p.Arg3876GlyfsTer7)
c.11401_11402del (p.Arg3801GlyfsTer7)
c.9400_9401del (p.Arg3134GlyfsTer7)
c.8629_8630del (p.Arg2877GlyfsTer7)
c.6001_6002del (p.Arg2001GlyfsTer7)
c.5050_5051del (p.Arg1684GlyfsTer7)
 dbSNP
15g.28141563T>ACA391381455HERC2c.11884A>T (p.Arg3962Trp)
c.3595A>T (p.Arg1199Trp)
c.11770A>T (p.Arg3924Trp)
c.11869A>T (p.Arg3957Trp)
c.11626A>T (p.Arg3876Trp)
c.11401A>T (p.Arg3801Trp)
c.9400A>T (p.Arg3134Trp)
c.8629A>T (p.Arg2877Trp)
c.6001A>T (p.Arg2001Trp)
c.5050A>T (p.Arg1684Trp)
15g.28141563T>CCA391381457HERC2c.11884A>G (p.Arg3962Gly)
c.3595A>G (p.Arg1199Gly)
c.11770A>G (p.Arg3924Gly)
c.11869A>G (p.Arg3957Gly)
c.11626A>G (p.Arg3876Gly)
c.11401A>G (p.Arg3801Gly)
c.9400A>G (p.Arg3134Gly)
c.8629A>G (p.Arg2877Gly)
c.6001A>G (p.Arg2001Gly)
c.5050A>G (p.Arg1684Gly)
15g.28141563T>GCA489234779HERC2c.11884A>C (p.Arg3962=)
c.3595A>C (p.Arg1199=)
c.11770A>C (p.Arg3924=)
c.11869A>C (p.Arg3957=)
c.11626A>C (p.Arg3876=)
c.11401A>C (p.Arg3801=)
c.9400A>C (p.Arg3134=)
c.8629A>C (p.Arg2877=)
c.6001A>C (p.Arg2001=)
c.5050A>C (p.Arg1684=)
 gnomAD v4
15g.28141564G>ACA7440436HERC2c.11883C>T (p.His3961=)
c.3594C>T (p.His1198=)
c.11769C>T (p.His3923=)
c.11868C>T (p.His3956=)
c.11625C>T (p.His3875=)
c.11400C>T (p.His3800=)
c.9399C>T (p.His3133=)
c.8628C>T (p.His2876=)
c.6000C>T (p.His2000=)
c.5049C>T (p.His1683=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28141564G>CCA391381459HERC2c.11883C>G (p.His3961Gln)
c.3594C>G (p.His1198Gln)
c.11769C>G (p.His3923Gln)
c.11868C>G (p.His3956Gln)
c.11625C>G (p.His3875Gln)
c.11400C>G (p.His3800Gln)
c.9399C>G (p.His3133Gln)
c.8628C>G (p.His2876Gln)
c.6000C>G (p.His2000Gln)
c.5049C>G (p.His1683Gln)
15g.28141564G=CA2166479925HERC2c.11883C= (p.His3961=)
c.3594C= (p.His1198=)
c.11769C= (p.His3923=)
c.11868C= (p.His3956=)
c.11625C= (p.His3875=)
c.11400C= (p.His3800=)
c.9399C= (p.His3133=)
c.8628C= (p.His2876=)
c.6000C= (p.His2000=)
c.5049C= (p.His1683=)
15g.28141564G>TCA391381463HERC2c.11883C>A (p.His3961Gln)
c.3594C>A (p.His1198Gln)
c.11769C>A (p.His3923Gln)
c.11868C>A (p.His3956Gln)
c.11625C>A (p.His3875Gln)
c.11400C>A (p.His3800Gln)
c.9399C>A (p.His3133Gln)
c.8628C>A (p.His2876Gln)
c.6000C>A (p.His2000Gln)
c.5049C>A (p.His1683Gln)
15g.28141565T>ACA391381465HERC2c.11882A>T (p.His3961Leu)
c.3593A>T (p.His1198Leu)
c.11768A>T (p.His3923Leu)
c.11867A>T (p.His3956Leu)
c.11624A>T (p.His3875Leu)
c.11399A>T (p.His3800Leu)
c.9398A>T (p.His3133Leu)
c.8627A>T (p.His2876Leu)
c.5999A>T (p.His2000Leu)
c.5048A>T (p.His1683Leu)
15g.28141565T>CCA391381469HERC2c.11882A>G (p.His3961Arg)
c.3593A>G (p.His1198Arg)
c.11768A>G (p.His3923Arg)
c.11867A>G (p.His3956Arg)
c.11624A>G (p.His3875Arg)
c.11399A>G (p.His3800Arg)
c.9398A>G (p.His3133Arg)
c.8627A>G (p.His2876Arg)
c.5999A>G (p.His2000Arg)
c.5048A>G (p.His1683Arg)
15g.28141565T>GCA391381467HERC2c.11882A>C (p.His3961Pro)
c.3593A>C (p.His1198Pro)
c.11768A>C (p.His3923Pro)
c.11867A>C (p.His3956Pro)
c.11624A>C (p.His3875Pro)
c.11399A>C (p.His3800Pro)
c.9398A>C (p.His3133Pro)
c.8627A>C (p.His2876Pro)
c.5999A>C (p.His2000Pro)
c.5048A>C (p.His1683Pro)
15g.28141566G>ACA391381471HERC2c.11881C>T (p.His3961Tyr)
c.3592C>T (p.His1198Tyr)
c.11767C>T (p.His3923Tyr)
c.11866C>T (p.His3956Tyr)
c.11623C>T (p.His3875Tyr)
c.11398C>T (p.His3800Tyr)
c.9397C>T (p.His3133Tyr)
c.8626C>T (p.His2876Tyr)
c.5998C>T (p.His2000Tyr)
c.5047C>T (p.His1683Tyr)
15g.28141566G>CCA391381475HERC2c.11881C>G (p.His3961Asp)
c.3592C>G (p.His1198Asp)
c.11767C>G (p.His3923Asp)
c.11866C>G (p.His3956Asp)
c.11623C>G (p.His3875Asp)
c.11398C>G (p.His3800Asp)
c.9397C>G (p.His3133Asp)
c.8626C>G (p.His2876Asp)
c.5998C>G (p.His2000Asp)
c.5047C>G (p.His1683Asp)
15g.28141566G>TCA391381473HERC2c.11881C>A (p.His3961Asn)
c.3592C>A (p.His1198Asn)
c.11767C>A (p.His3923Asn)
c.11866C>A (p.His3956Asn)
c.11623C>A (p.His3875Asn)
c.11398C>A (p.His3800Asn)
c.9397C>A (p.His3133Asn)
c.8626C>A (p.His2876Asn)
c.5998C>A (p.His2000Asn)
c.5047C>A (p.His1683Asn)
15g.28141567A>CCA391381477HERC2c.11880T>G (p.Asn3960Lys)
c.3591T>G (p.Asn1197Lys)
c.11766T>G (p.Asn3922Lys)
c.11865T>G (p.Asn3955Lys)
c.11622T>G (p.Asn3874Lys)
c.11397T>G (p.Asn3799Lys)
c.9396T>G (p.Asn3132Lys)
c.8625T>G (p.Asn2875Lys)
c.5997T>G (p.Asn1999Lys)
c.5046T>G (p.Asn1682Lys)
15g.28141567A>GCA489234780HERC2c.11880T>C (p.Asn3960=)
c.3591T>C (p.Asn1197=)
c.11766T>C (p.Asn3922=)
c.11865T>C (p.Asn3955=)
c.11622T>C (p.Asn3874=)
c.11397T>C (p.Asn3799=)
c.9396T>C (p.Asn3132=)
c.8625T>C (p.Asn2875=)
c.5997T>C (p.Asn1999=)
c.5046T>C (p.Asn1682=)
15g.28141567A>TCA391381479HERC2c.11880T>A (p.Asn3960Lys)
c.3591T>A (p.Asn1197Lys)
c.11766T>A (p.Asn3922Lys)
c.11865T>A (p.Asn3955Lys)
c.11622T>A (p.Asn3874Lys)
c.11397T>A (p.Asn3799Lys)
c.9396T>A (p.Asn3132Lys)
c.8625T>A (p.Asn2875Lys)
c.5997T>A (p.Asn1999Lys)
c.5046T>A (p.Asn1682Lys)
15g.28141568T>ACA391381480HERC2c.11879A>T (p.Asn3960Ile)
c.3590A>T (p.Asn1197Ile)
c.11765A>T (p.Asn3922Ile)
c.11864A>T (p.Asn3955Ile)
c.11621A>T (p.Asn3874Ile)
c.11396A>T (p.Asn3799Ile)
c.9395A>T (p.Asn3132Ile)
c.8624A>T (p.Asn2875Ile)
c.5996A>T (p.Asn1999Ile)
c.5045A>T (p.Asn1682Ile)
15g.28141568T>CCA391381486HERC2c.11879A>G (p.Asn3960Ser)
c.3590A>G (p.Asn1197Ser)
c.11765A>G (p.Asn3922Ser)
c.11864A>G (p.Asn3955Ser)
c.11621A>G (p.Asn3874Ser)
c.11396A>G (p.Asn3799Ser)
c.9395A>G (p.Asn3132Ser)
c.8624A>G (p.Asn2875Ser)
c.5996A>G (p.Asn1999Ser)
c.5045A>G (p.Asn1682Ser)
15g.28141568T>GCA391381482HERC2c.11879A>C (p.Asn3960Thr)
c.3590A>C (p.Asn1197Thr)
c.11765A>C (p.Asn3922Thr)
c.11864A>C (p.Asn3955Thr)
c.11621A>C (p.Asn3874Thr)
c.11396A>C (p.Asn3799Thr)
c.9395A>C (p.Asn3132Thr)
c.8624A>C (p.Asn2875Thr)
c.5996A>C (p.Asn1999Thr)
c.5045A>C (p.Asn1682Thr)
15g.28141569T>ACA391381489HERC2c.11878A>T (p.Asn3960Tyr)
c.3589A>T (p.Asn1197Tyr)
c.11764A>T (p.Asn3922Tyr)
c.11863A>T (p.Asn3955Tyr)
c.11620A>T (p.Asn3874Tyr)
c.11395A>T (p.Asn3799Tyr)
c.9394A>T (p.Asn3132Tyr)
c.8623A>T (p.Asn2875Tyr)
c.5995A>T (p.Asn1999Tyr)
c.5044A>T (p.Asn1682Tyr)
15g.28141569T>CCA391381493HERC2c.11878A>G (p.Asn3960Asp)
c.3589A>G (p.Asn1197Asp)
c.11764A>G (p.Asn3922Asp)
c.11863A>G (p.Asn3955Asp)
c.11620A>G (p.Asn3874Asp)
c.11395A>G (p.Asn3799Asp)
c.9394A>G (p.Asn3132Asp)
c.8623A>G (p.Asn2875Asp)
c.5995A>G (p.Asn1999Asp)
c.5044A>G (p.Asn1682Asp)
15g.28141569T>GCA391381491HERC2c.11878A>C (p.Asn3960His)
c.3589A>C (p.Asn1197His)
c.11764A>C (p.Asn3922His)
c.11863A>C (p.Asn3955His)
c.11620A>C (p.Asn3874His)
c.11395A>C (p.Asn3799His)
c.9394A>C (p.Asn3132His)
c.8623A>C (p.Asn2875His)
c.5995A>C (p.Asn1999His)
c.5044A>C (p.Asn1682His)
15g.28141570A>CCA391381495HERC2c.11877T>G (p.His3959Gln)
c.3588T>G (p.His1196Gln)
c.11763T>G (p.His3921Gln)
c.11862T>G (p.His3954Gln)
c.11619T>G (p.His3873Gln)
c.11394T>G (p.His3798Gln)
c.9393T>G (p.His3131Gln)
c.8622T>G (p.His2874Gln)
c.5994T>G (p.His1998Gln)
c.5043T>G (p.His1681Gln)
15g.28141570A>GCA489234781HERC2c.11877T>C (p.His3959=)
c.3588T>C (p.His1196=)
c.11763T>C (p.His3921=)
c.11862T>C (p.His3954=)
c.11619T>C (p.His3873=)
c.11394T>C (p.His3798=)
c.9393T>C (p.His3131=)
c.8622T>C (p.His2874=)
c.5994T>C (p.His1998=)
c.5043T>C (p.His1681=)
15g.28141570A>TCA391381497HERC2c.11877T>A (p.His3959Gln)
c.3588T>A (p.His1196Gln)
c.11763T>A (p.His3921Gln)
c.11862T>A (p.His3954Gln)
c.11619T>A (p.His3873Gln)
c.11394T>A (p.His3798Gln)
c.9393T>A (p.His3131Gln)
c.8622T>A (p.His2874Gln)
c.5994T>A (p.His1998Gln)
c.5043T>A (p.His1681Gln)
15g.28141571T>ACA391381499HERC2c.11876A>T (p.His3959Leu)
c.3587A>T (p.His1196Leu)
c.11762A>T (p.His3921Leu)
c.11861A>T (p.His3954Leu)
c.11618A>T (p.His3873Leu)
c.11393A>T (p.His3798Leu)
c.9392A>T (p.His3131Leu)
c.8621A>T (p.His2874Leu)
c.5993A>T (p.His1998Leu)
c.5042A>T (p.His1681Leu)
15g.28141571T>CCA391381500HERC2c.11876A>G (p.His3959Arg)
c.3587A>G (p.His1196Arg)
c.11762A>G (p.His3921Arg)
c.11861A>G (p.His3954Arg)
c.11618A>G (p.His3873Arg)
c.11393A>G (p.His3798Arg)
c.9392A>G (p.His3131Arg)
c.8621A>G (p.His2874Arg)
c.5993A>G (p.His1998Arg)
c.5042A>G (p.His1681Arg)
15g.28141571T>GCA391381502HERC2c.11876A>C (p.His3959Pro)
c.3587A>C (p.His1196Pro)
c.11762A>C (p.His3921Pro)
c.11861A>C (p.His3954Pro)
c.11618A>C (p.His3873Pro)
c.11393A>C (p.His3798Pro)
c.9392A>C (p.His3131Pro)
c.8621A>C (p.His2874Pro)
c.5993A>C (p.His1998Pro)
c.5042A>C (p.His1681Pro)
15g.28141572G>ACA391381504HERC2c.11875C>T (p.His3959Tyr)
c.3586C>T (p.His1196Tyr)
c.11761C>T (p.His3921Tyr)
c.11860C>T (p.His3954Tyr)
c.11617C>T (p.His3873Tyr)
c.11392C>T (p.His3798Tyr)
c.9391C>T (p.His3131Tyr)
c.8620C>T (p.His2874Tyr)
c.5992C>T (p.His1998Tyr)
c.5041C>T (p.His1681Tyr)
 gnomAD v4
15g.28141572G>CCA391381505HERC2c.11875C>G (p.His3959Asp)
c.3586C>G (p.His1196Asp)
c.11761C>G (p.His3921Asp)
c.11860C>G (p.His3954Asp)
c.11617C>G (p.His3873Asp)
c.11392C>G (p.His3798Asp)
c.9391C>G (p.His3131Asp)
c.8620C>G (p.His2874Asp)
c.5992C>G (p.His1998Asp)
c.5041C>G (p.His1681Asp)
15g.28141572G>TCA391381507HERC2c.11875C>A (p.His3959Asn)
c.3586C>A (p.His1196Asn)
c.11761C>A (p.His3921Asn)
c.11860C>A (p.His3954Asn)
c.11617C>A (p.His3873Asn)
c.11392C>A (p.His3798Asn)
c.9391C>A (p.His3131Asn)
c.8620C>A (p.His2874Asn)
c.5992C>A (p.His1998Asn)
c.5041C>A (p.His1681Asn)
15g.28141573T>ACA489234784HERC2c.11874A>T (p.Gly3958=)
c.3585A>T (p.Gly1195=)
c.11760A>T (p.Gly3920=)
c.11859A>T (p.Gly3953=)
c.11616A>T (p.Gly3872=)
c.11391A>T (p.Gly3797=)
c.9390A>T (p.Gly3130=)
c.8619A>T (p.Gly2873=)
c.5991A>T (p.Gly1997=)
c.5040A>T (p.Gly1680=)
 dbSNP gnomAD v3 gnomAD v4
15g.28141573T>CCA489234782HERC2c.11874A>G (p.Gly3958=)
c.3585A>G (p.Gly1195=)
c.11760A>G (p.Gly3920=)
c.11859A>G (p.Gly3953=)
c.11616A>G (p.Gly3872=)
c.11391A>G (p.Gly3797=)
c.9390A>G (p.Gly3130=)
c.8619A>G (p.Gly2873=)
c.5991A>G (p.Gly1997=)
c.5040A>G (p.Gly1680=)
15g.28141573T>GCA489234783HERC2c.11874A>C (p.Gly3958=)
c.3585A>C (p.Gly1195=)
c.11760A>C (p.Gly3920=)
c.11859A>C (p.Gly3953=)
c.11616A>C (p.Gly3872=)
c.11391A>C (p.Gly3797=)
c.9390A>C (p.Gly3130=)
c.8619A>C (p.Gly2873=)
c.5991A>C (p.Gly1997=)
c.5040A>C (p.Gly1680=)
15g.28141573T=CA2166479928HERC2c.11874A= (p.Gly3958=)
c.3585A= (p.Gly1195=)
c.11760A= (p.Gly3920=)
c.11859A= (p.Gly3953=)
c.11616A= (p.Gly3872=)
c.11391A= (p.Gly3797=)
c.9390A= (p.Gly3130=)
c.8619A= (p.Gly2873=)
c.5991A= (p.Gly1997=)
c.5040A= (p.Gly1680=)
15g.28141574C>ACA391381513HERC2c.11873G>T (p.Gly3958Val)
c.3584G>T (p.Gly1195Val)
c.11759G>T (p.Gly3920Val)
c.11858G>T (p.Gly3953Val)
c.11615G>T (p.Gly3872Val)
c.11390G>T (p.Gly3797Val)
c.9389G>T (p.Gly3130Val)
c.8618G>T (p.Gly2873Val)
c.5990G>T (p.Gly1997Val)
c.5039G>T (p.Gly1680Val)
 gnomAD v4
15g.28141574C>GCA391381511HERC2c.11873G>C (p.Gly3958Ala)
c.3584G>C (p.Gly1195Ala)
c.11759G>C (p.Gly3920Ala)
c.11858G>C (p.Gly3953Ala)
c.11615G>C (p.Gly3872Ala)
c.11390G>C (p.Gly3797Ala)
c.9389G>C (p.Gly3130Ala)
c.8618G>C (p.Gly2873Ala)
c.5990G>C (p.Gly1997Ala)
c.5039G>C (p.Gly1680Ala)
15g.28141574C>TCA391381509HERC2c.11873G>A (p.Gly3958Glu)
c.3584G>A (p.Gly1195Glu)
c.11759G>A (p.Gly3920Glu)
c.11858G>A (p.Gly3953Glu)
c.11615G>A (p.Gly3872Glu)
c.11390G>A (p.Gly3797Glu)
c.9389G>A (p.Gly3130Glu)
c.8618G>A (p.Gly2873Glu)
c.5990G>A (p.Gly1997Glu)
c.5039G>A (p.Gly1680Glu)
15g.28141575C>ACA391381515HERC2c.11872G>T (p.Gly3958Ter)
c.3583G>T (p.Gly1195Ter)
c.11758G>T (p.Gly3920Ter)
c.11857G>T (p.Gly3953Ter)
c.11614G>T (p.Gly3872Ter)
c.11389G>T (p.Gly3797Ter)
c.9388G>T (p.Gly3130Ter)
c.8617G>T (p.Gly2873Ter)
c.5989G>T (p.Gly1997Ter)
c.5038G>T (p.Gly1680Ter)
15g.28141575C>GCA391381517HERC2c.11872G>C (p.Gly3958Arg)
c.3583G>C (p.Gly1195Arg)
c.11758G>C (p.Gly3920Arg)
c.11857G>C (p.Gly3953Arg)
c.11614G>C (p.Gly3872Arg)
c.11389G>C (p.Gly3797Arg)
c.9388G>C (p.Gly3130Arg)
c.8617G>C (p.Gly2873Arg)
c.5989G>C (p.Gly1997Arg)
c.5038G>C (p.Gly1680Arg)
15g.28141575C>TCA391381519HERC2c.11872G>A (p.Gly3958Arg)
c.3583G>A (p.Gly1195Arg)
c.11758G>A (p.Gly3920Arg)
c.11857G>A (p.Gly3953Arg)
c.11614G>A (p.Gly3872Arg)
c.11389G>A (p.Gly3797Arg)
c.9388G>A (p.Gly3130Arg)
c.8617G>A (p.Gly2873Arg)
c.5989G>A (p.Gly1997Arg)
c.5038G>A (p.Gly1680Arg)
15g.28141576C>ACA391381521HERC2c.11871G>T (p.Trp3957Cys)
c.3582G>T (p.Trp1194Cys)
c.11757G>T (p.Trp3919Cys)
c.11856G>T (p.Trp3952Cys)
c.11613G>T (p.Trp3871Cys)
c.11388G>T (p.Trp3796Cys)
c.9387G>T (p.Trp3129Cys)
c.8616G>T (p.Trp2872Cys)
c.5988G>T (p.Trp1996Cys)
c.5037G>T (p.Trp1679Cys)
15g.28141576C>GCA391381523HERC2c.11871G>C (p.Trp3957Cys)
c.3582G>C (p.Trp1194Cys)
c.11757G>C (p.Trp3919Cys)
c.11856G>C (p.Trp3952Cys)
c.11613G>C (p.Trp3871Cys)
c.11388G>C (p.Trp3796Cys)
c.9387G>C (p.Trp3129Cys)
c.8616G>C (p.Trp2872Cys)
c.5988G>C (p.Trp1996Cys)
c.5037G>C (p.Trp1679Cys)
15g.28141576C>TCA391381525HERC2c.11871G>A (p.Trp3957Ter)
c.3582G>A (p.Trp1194Ter)
c.11757G>A (p.Trp3919Ter)
c.11856G>A (p.Trp3952Ter)
c.11613G>A (p.Trp3871Ter)
c.11388G>A (p.Trp3796Ter)
c.9387G>A (p.Trp3129Ter)
c.8616G>A (p.Trp2872Ter)
c.5988G>A (p.Trp1996Ter)
c.5037G>A (p.Trp1679Ter)
15g.28141577C>ACA391381527HERC2c.11870G>T (p.Trp3957Leu)
c.3581G>T (p.Trp1194Leu)
c.11756G>T (p.Trp3919Leu)
c.11855G>T (p.Trp3952Leu)
c.11612G>T (p.Trp3871Leu)
c.11387G>T (p.Trp3796Leu)
c.9386G>T (p.Trp3129Leu)
c.8615G>T (p.Trp2872Leu)
c.5987G>T (p.Trp1996Leu)
c.5036G>T (p.Trp1679Leu)
 gnomAD v4
15g.28141577C>GCA391381531HERC2c.11870G>C (p.Trp3957Ser)
c.3581G>C (p.Trp1194Ser)
c.11756G>C (p.Trp3919Ser)
c.11855G>C (p.Trp3952Ser)
c.11612G>C (p.Trp3871Ser)
c.11387G>C (p.Trp3796Ser)
c.9386G>C (p.Trp3129Ser)
c.8615G>C (p.Trp2872Ser)
c.5987G>C (p.Trp1996Ser)
c.5036G>C (p.Trp1679Ser)
15g.28141577C>TCA391381529HERC2c.11870G>A (p.Trp3957Ter)
c.3581G>A (p.Trp1194Ter)
c.11756G>A (p.Trp3919Ter)
c.11855G>A (p.Trp3952Ter)
c.11612G>A (p.Trp3871Ter)
c.11387G>A (p.Trp3796Ter)
c.9386G>A (p.Trp3129Ter)
c.8615G>A (p.Trp2872Ter)
c.5987G>A (p.Trp1996Ter)
c.5036G>A (p.Trp1679Ter)
15g.28141578A>CCA391381533HERC2c.11869T>G (p.Trp3957Gly)
c.3580T>G (p.Trp1194Gly)
c.11755T>G (p.Trp3919Gly)
c.11854T>G (p.Trp3952Gly)
c.11611T>G (p.Trp3871Gly)
c.11386T>G (p.Trp3796Gly)
c.9385T>G (p.Trp3129Gly)
c.8614T>G (p.Trp2872Gly)
c.5986T>G (p.Trp1996Gly)
c.5035T>G (p.Trp1679Gly)
15g.28141578A>GCA391381534HERC2c.11869T>C (p.Trp3957Arg)
c.3580T>C (p.Trp1194Arg)
c.11755T>C (p.Trp3919Arg)
c.11854T>C (p.Trp3952Arg)
c.11611T>C (p.Trp3871Arg)
c.11386T>C (p.Trp3796Arg)
c.9385T>C (p.Trp3129Arg)
c.8614T>C (p.Trp2872Arg)
c.5986T>C (p.Trp1996Arg)
c.5035T>C (p.Trp1679Arg)
15g.28141578A>TCA391381535HERC2c.11869T>A (p.Trp3957Arg)
c.3580T>A (p.Trp1194Arg)
c.11755T>A (p.Trp3919Arg)
c.11854T>A (p.Trp3952Arg)
c.11611T>A (p.Trp3871Arg)
c.11386T>A (p.Trp3796Arg)
c.9385T>A (p.Trp3129Arg)
c.8614T>A (p.Trp2872Arg)
c.5986T>A (p.Trp1996Arg)
c.5035T>A (p.Trp1679Arg)
15g.28141579T>ACA7440437HERC2c.11868A>T (p.Gly3956=)
c.3579A>T (p.Gly1193=)
c.11754A>T (p.Gly3918=)
c.11853A>T (p.Gly3951=)
c.11610A>T (p.Gly3870=)
c.11385A>T (p.Gly3795=)
c.9384A>T (p.Gly3128=)
c.8613A>T (p.Gly2871=)
c.5985A>T (p.Gly1995=)
c.5034A>T (p.Gly1678=)
 dbSNP ExAC gnomAD v2
15g.28141579T>CCA489234852HERC2c.11868A>G (p.Gly3956=)
c.3579A>G (p.Gly1193=)
c.11754A>G (p.Gly3918=)
c.11853A>G (p.Gly3951=)
c.11610A>G (p.Gly3870=)
c.11385A>G (p.Gly3795=)
c.9384A>G (p.Gly3128=)
c.8613A>G (p.Gly2871=)
c.5985A>G (p.Gly1995=)
c.5034A>G (p.Gly1678=)
15g.28141579T>GCA489234854HERC2c.11868A>C (p.Gly3956=)
c.3579A>C (p.Gly1193=)
c.11754A>C (p.Gly3918=)
c.11853A>C (p.Gly3951=)
c.11610A>C (p.Gly3870=)
c.11385A>C (p.Gly3795=)
c.9384A>C (p.Gly3128=)
c.8613A>C (p.Gly2871=)
c.5985A>C (p.Gly1995=)
c.5034A>C (p.Gly1678=)
15g.28141579T=CA2166479929HERC2c.11868A= (p.Gly3956=)
c.3579A= (p.Gly1193=)
c.11754A= (p.Gly3918=)
c.11853A= (p.Gly3951=)
c.11610A= (p.Gly3870=)
c.11385A= (p.Gly3795=)
c.9384A= (p.Gly3128=)
c.8613A= (p.Gly2871=)
c.5985A= (p.Gly1995=)
c.5034A= (p.Gly1678=)
15g.28141580C>ACA391381537HERC2c.11867G>T (p.Gly3956Val)
c.3578G>T (p.Gly1193Val)
c.11753G>T (p.Gly3918Val)
c.11852G>T (p.Gly3951Val)
c.11609G>T (p.Gly3870Val)
c.11384G>T (p.Gly3795Val)
c.9383G>T (p.Gly3128Val)
c.8612G>T (p.Gly2871Val)
c.5984G>T (p.Gly1995Val)
c.5033G>T (p.Gly1678Val)
15g.28141580C>GCA391381539HERC2c.11867G>C (p.Gly3956Ala)
c.3578G>C (p.Gly1193Ala)
c.11753G>C (p.Gly3918Ala)
c.11852G>C (p.Gly3951Ala)
c.11609G>C (p.Gly3870Ala)
c.11384G>C (p.Gly3795Ala)
c.9383G>C (p.Gly3128Ala)
c.8612G>C (p.Gly2871Ala)
c.5984G>C (p.Gly1995Ala)
c.5033G>C (p.Gly1678Ala)
15g.28141580C>TCA391381540HERC2c.11867G>A (p.Gly3956Glu)
c.3578G>A (p.Gly1193Glu)
c.11753G>A (p.Gly3918Glu)
c.11852G>A (p.Gly3951Glu)
c.11609G>A (p.Gly3870Glu)
c.11384G>A (p.Gly3795Glu)
c.9383G>A (p.Gly3128Glu)
c.8612G>A (p.Gly2871Glu)
c.5984G>A (p.Gly1995Glu)
c.5033G>A (p.Gly1678Glu)
 gnomAD v4
15g.28141581C>ACA267946126HERC2c.11866G>T (p.Gly3956Ter)
c.3577G>T (p.Gly1193Ter)
c.11752G>T (p.Gly3918Ter)
c.11851G>T (p.Gly3951Ter)
c.11608G>T (p.Gly3870Ter)
c.11383G>T (p.Gly3795Ter)
c.9382G>T (p.Gly3128Ter)
c.8611G>T (p.Gly2871Ter)
c.5983G>T (p.Gly1995Ter)
c.5032G>T (p.Gly1678Ter)
 dbSNP COSMIC COSMIC
15g.28141581C=CA2166479932HERC2c.11866G= (p.Gly3956=)
c.3577G= (p.Gly1193=)
c.11752G= (p.Gly3918=)
c.11851G= (p.Gly3951=)
c.11608G= (p.Gly3870=)
c.11383G= (p.Gly3795=)
c.9382G= (p.Gly3128=)
c.8611G= (p.Gly2871=)
c.5983G= (p.Gly1995=)
c.5032G= (p.Gly1678=)
15g.28141581C>GCA391381543HERC2c.11866G>C (p.Gly3956Arg)
c.3577G>C (p.Gly1193Arg)
c.11752G>C (p.Gly3918Arg)
c.11851G>C (p.Gly3951Arg)
c.11608G>C (p.Gly3870Arg)
c.11383G>C (p.Gly3795Arg)
c.9382G>C (p.Gly3128Arg)
c.8611G>C (p.Gly2871Arg)
c.5983G>C (p.Gly1995Arg)
c.5032G>C (p.Gly1678Arg)
15g.28141581C>TCA391381545HERC2c.11866G>A (p.Gly3956Arg)
c.3577G>A (p.Gly1193Arg)
c.11752G>A (p.Gly3918Arg)
c.11851G>A (p.Gly3951Arg)
c.11608G>A (p.Gly3870Arg)
c.11383G>A (p.Gly3795Arg)
c.9382G>A (p.Gly3128Arg)
c.8611G>A (p.Gly2871Arg)
c.5983G>A (p.Gly1995Arg)
c.5032G>A (p.Gly1678Arg)
15g.28141582A>CCA391381546HERC2c.11865T>G (p.Tyr3955Ter)
c.3576T>G (p.Tyr1192Ter)
c.11751T>G (p.Tyr3917Ter)
c.11850T>G (p.Tyr3950Ter)
c.11607T>G (p.Tyr3869Ter)
c.11382T>G (p.Tyr3794Ter)
c.9381T>G (p.Tyr3127Ter)
c.8610T>G (p.Tyr2870Ter)
c.5982T>G (p.Tyr1994Ter)
c.5031T>G (p.Tyr1677Ter)
15g.28141582A>GCA489234864HERC2c.11865T>C (p.Tyr3955=)
c.3576T>C (p.Tyr1192=)
c.11751T>C (p.Tyr3917=)
c.11850T>C (p.Tyr3950=)
c.11607T>C (p.Tyr3869=)
c.11382T>C (p.Tyr3794=)
c.9381T>C (p.Tyr3127=)
c.8610T>C (p.Tyr2870=)
c.5982T>C (p.Tyr1994=)
c.5031T>C (p.Tyr1677=)
 gnomAD v4
15g.28141582A>TCA391381548HERC2c.11865T>A (p.Tyr3955Ter)
c.3576T>A (p.Tyr1192Ter)
c.11751T>A (p.Tyr3917Ter)
c.11850T>A (p.Tyr3950Ter)
c.11607T>A (p.Tyr3869Ter)
c.11382T>A (p.Tyr3794Ter)
c.9381T>A (p.Tyr3127Ter)
c.8610T>A (p.Tyr2870Ter)
c.5982T>A (p.Tyr1994Ter)
c.5031T>A (p.Tyr1677Ter)
15g.28141583T>ACA391381551HERC2c.11864A>T (p.Tyr3955Phe)
c.3575A>T (p.Tyr1192Phe)
c.11750A>T (p.Tyr3917Phe)
c.11849A>T (p.Tyr3950Phe)
c.11606A>T (p.Tyr3869Phe)
c.11381A>T (p.Tyr3794Phe)
c.9380A>T (p.Tyr3127Phe)
c.8609A>T (p.Tyr2870Phe)
c.5981A>T (p.Tyr1994Phe)
c.5030A>T (p.Tyr1677Phe)
 gnomAD v4
15g.28141583T>CCA391381553HERC2c.11864A>G (p.Tyr3955Cys)
c.3575A>G (p.Tyr1192Cys)
c.11750A>G (p.Tyr3917Cys)
c.11849A>G (p.Tyr3950Cys)
c.11606A>G (p.Tyr3869Cys)
c.11381A>G (p.Tyr3794Cys)
c.9380A>G (p.Tyr3127Cys)
c.8609A>G (p.Tyr2870Cys)
c.5981A>G (p.Tyr1994Cys)
c.5030A>G (p.Tyr1677Cys)
15g.28141583T>GCA391381552HERC2c.11864A>C (p.Tyr3955Ser)
c.3575A>C (p.Tyr1192Ser)
c.11750A>C (p.Tyr3917Ser)
c.11849A>C (p.Tyr3950Ser)
c.11606A>C (p.Tyr3869Ser)
c.11381A>C (p.Tyr3794Ser)
c.9380A>C (p.Tyr3127Ser)
c.8609A>C (p.Tyr2870Ser)
c.5981A>C (p.Tyr1994Ser)
c.5030A>C (p.Tyr1677Ser)
15g.28141584A>CCA391381555HERC2c.11863T>G (p.Tyr3955Asp)
c.3574T>G (p.Tyr1192Asp)
c.11749T>G (p.Tyr3917Asp)
c.11848T>G (p.Tyr3950Asp)
c.11605T>G (p.Tyr3869Asp)
c.11380T>G (p.Tyr3794Asp)
c.9379T>G (p.Tyr3127Asp)
c.8608T>G (p.Tyr2870Asp)
c.5980T>G (p.Tyr1994Asp)
c.5029T>G (p.Tyr1677Asp)
15g.28141584A>GCA391381557HERC2c.11863T>C (p.Tyr3955His)
c.3574T>C (p.Tyr1192His)
c.11749T>C (p.Tyr3917His)
c.11848T>C (p.Tyr3950His)
c.11605T>C (p.Tyr3869His)
c.11380T>C (p.Tyr3794His)
c.9379T>C (p.Tyr3127His)
c.8608T>C (p.Tyr2870His)
c.5980T>C (p.Tyr1994His)
c.5029T>C (p.Tyr1677His)
15g.28141584A>TCA391381559HERC2c.11863T>A (p.Tyr3955Asn)
c.3574T>A (p.Tyr1192Asn)
c.11749T>A (p.Tyr3917Asn)
c.11848T>A (p.Tyr3950Asn)
c.11605T>A (p.Tyr3869Asn)
c.11380T>A (p.Tyr3794Asn)
c.9379T>A (p.Tyr3127Asn)
c.8608T>A (p.Tyr2870Asn)
c.5980T>A (p.Tyr1994Asn)
c.5029T>A (p.Tyr1677Asn)
15g.28141585A=CA2166479934HERC2c.11862T= (p.Ile3954=)
c.3573T= (p.Ile1191=)
c.11748T= (p.Ile3916=)
c.11847T= (p.Ile3949=)
c.11604T= (p.Ile3868=)
c.11379T= (p.Ile3793=)
c.9378T= (p.Ile3126=)
c.8607T= (p.Ile2869=)
c.5979T= (p.Ile1993=)
c.5028T= (p.Ile1676=)
15g.28141585A>CCA391381560HERC2c.11862T>G (p.Ile3954Met)
c.3573T>G (p.Ile1191Met)
c.11748T>G (p.Ile3916Met)
c.11847T>G (p.Ile3949Met)
c.11604T>G (p.Ile3868Met)
c.11379T>G (p.Ile3793Met)
c.9378T>G (p.Ile3126Met)
c.8607T>G (p.Ile2869Met)
c.5979T>G (p.Ile1993Met)
c.5028T>G (p.Ile1676Met)
15g.28141585A>GCA489234868HERC2c.11862T>C (p.Ile3954=)
c.3573T>C (p.Ile1191=)
c.11748T>C (p.Ile3916=)
c.11847T>C (p.Ile3949=)
c.11604T>C (p.Ile3868=)
c.11379T>C (p.Ile3793=)
c.9378T>C (p.Ile3126=)
c.8607T>C (p.Ile2869=)
c.5979T>C (p.Ile1993=)
c.5028T>C (p.Ile1676=)
15g.28141585A>TCA489234870HERC2c.11862T>A (p.Ile3954=)
c.3573T>A (p.Ile1191=)
c.11748T>A (p.Ile3916=)
c.11847T>A (p.Ile3949=)
c.11604T>A (p.Ile3868=)
c.11379T>A (p.Ile3793=)
c.9378T>A (p.Ile3126=)
c.8607T>A (p.Ile2869=)
c.5979T>A (p.Ile1993=)
c.5028T>A (p.Ile1676=)
 dbSNP gnomAD v2 gnomAD v4
15g.28141586A=CA2166479935HERC2c.11861T= (p.Ile3954=)
c.3572T= (p.Ile1191=)
c.11747T= (p.Ile3916=)
c.11846T= (p.Ile3949=)
c.11603T= (p.Ile3868=)
c.11378T= (p.Ile3793=)
c.9377T= (p.Ile3126=)
c.8606T= (p.Ile2869=)
c.5978T= (p.Ile1993=)
c.5027T= (p.Ile1676=)
15g.28141586A>CCA391381561HERC2c.11861T>G (p.Ile3954Ser)
c.3572T>G (p.Ile1191Ser)
c.11747T>G (p.Ile3916Ser)
c.11846T>G (p.Ile3949Ser)
c.11603T>G (p.Ile3868Ser)
c.11378T>G (p.Ile3793Ser)
c.9377T>G (p.Ile3126Ser)
c.8606T>G (p.Ile2869Ser)
c.5978T>G (p.Ile1993Ser)
c.5027T>G (p.Ile1676Ser)
15g.28141586A>GCA7440438HERC2c.11861T>C (p.Ile3954Thr)
c.3572T>C (p.Ile1191Thr)
c.11747T>C (p.Ile3916Thr)
c.11846T>C (p.Ile3949Thr)
c.11603T>C (p.Ile3868Thr)
c.11378T>C (p.Ile3793Thr)
c.9377T>C (p.Ile3126Thr)
c.8606T>C (p.Ile2869Thr)
c.5978T>C (p.Ile1993Thr)
c.5027T>C (p.Ile1676Thr)
 dbSNP ExAC gnomAD v4
15g.28141586A>TCA391381563HERC2c.11861T>A (p.Ile3954Asn)
c.3572T>A (p.Ile1191Asn)
c.11747T>A (p.Ile3916Asn)
c.11846T>A (p.Ile3949Asn)
c.11603T>A (p.Ile3868Asn)
c.11378T>A (p.Ile3793Asn)
c.9377T>A (p.Ile3126Asn)
c.8606T>A (p.Ile2869Asn)
c.5978T>A (p.Ile1993Asn)
c.5027T>A (p.Ile1676Asn)
15g.28141587T>ACA391381565HERC2c.11860A>T (p.Ile3954Phe)
c.3571A>T (p.Ile1191Phe)
c.11746A>T (p.Ile3916Phe)
c.11845A>T (p.Ile3949Phe)
c.11602A>T (p.Ile3868Phe)
c.11377A>T (p.Ile3793Phe)
c.9376A>T (p.Ile3126Phe)
c.8605A>T (p.Ile2869Phe)
c.5977A>T (p.Ile1993Phe)
c.5026A>T (p.Ile1676Phe)
 dbSNP gnomAD v3 gnomAD v4
15g.28141587T>CCA391381566HERC2c.11860A>G (p.Ile3954Val)
c.3571A>G (p.Ile1191Val)
c.11746A>G (p.Ile3916Val)
c.11845A>G (p.Ile3949Val)
c.11602A>G (p.Ile3868Val)
c.11377A>G (p.Ile3793Val)
c.9376A>G (p.Ile3126Val)
c.8605A>G (p.Ile2869Val)
c.5977A>G (p.Ile1993Val)
c.5026A>G (p.Ile1676Val)
 gnomAD v4
15g.28141587T>GCA391381568HERC2c.11860A>C (p.Ile3954Leu)
c.3571A>C (p.Ile1191Leu)
c.11746A>C (p.Ile3916Leu)
c.11845A>C (p.Ile3949Leu)
c.11602A>C (p.Ile3868Leu)
c.11377A>C (p.Ile3793Leu)
c.9376A>C (p.Ile3126Leu)
c.8605A>C (p.Ile2869Leu)
c.5977A>C (p.Ile1993Leu)
c.5026A>C (p.Ile1676Leu)
15g.28141587T=CA2166479938HERC2c.11860A= (p.Ile3954=)
c.3571A= (p.Ile1191=)
c.11746A= (p.Ile3916=)
c.11845A= (p.Ile3949=)
c.11602A= (p.Ile3868=)
c.11377A= (p.Ile3793=)
c.9376A= (p.Ile3126=)
c.8605A= (p.Ile2869=)
c.5977A= (p.Ile1993=)
c.5026A= (p.Ile1676=)
15g.28141588T>ACA489234873HERC2c.11859A>T (p.Thr3953=)
c.3570A>T (p.Thr1190=)
c.11745A>T (p.Thr3915=)
c.11844A>T (p.Thr3948=)
c.11601A>T (p.Thr3867=)
c.11376A>T (p.Thr3792=)
c.9375A>T (p.Thr3125=)
c.8604A>T (p.Thr2868=)
c.5976A>T (p.Thr1992=)
c.5025A>T (p.Thr1675=)
15g.28141588T>CCA489234874HERC2c.11859A>G (p.Thr3953=)
c.3570A>G (p.Thr1190=)
c.11745A>G (p.Thr3915=)
c.11844A>G (p.Thr3948=)
c.11601A>G (p.Thr3867=)
c.11376A>G (p.Thr3792=)
c.9375A>G (p.Thr3125=)
c.8604A>G (p.Thr2868=)
c.5976A>G (p.Thr1992=)
c.5025A>G (p.Thr1675=)
15g.28141588T>GCA489234872HERC2c.11859A>C (p.Thr3953=)
c.3570A>C (p.Thr1190=)
c.11745A>C (p.Thr3915=)
c.11844A>C (p.Thr3948=)
c.11601A>C (p.Thr3867=)
c.11376A>C (p.Thr3792=)
c.9375A>C (p.Thr3125=)
c.8604A>C (p.Thr2868=)
c.5976A>C (p.Thr1992=)
c.5025A>C (p.Thr1675=)
 gnomAD v4
15g.28141589G>ACA391381570HERC2c.11858C>T (p.Thr3953Ile)
c.3569C>T (p.Thr1190Ile)
c.11744C>T (p.Thr3915Ile)
c.11843C>T (p.Thr3948Ile)
c.11600C>T (p.Thr3867Ile)
c.11375C>T (p.Thr3792Ile)
c.9374C>T (p.Thr3125Ile)
c.8603C>T (p.Thr2868Ile)
c.5975C>T (p.Thr1992Ile)
c.5024C>T (p.Thr1675Ile)
15g.28141589G>CCA391381572HERC2c.11858C>G (p.Thr3953Arg)
c.3569C>G (p.Thr1190Arg)
c.11744C>G (p.Thr3915Arg)
c.11843C>G (p.Thr3948Arg)
c.11600C>G (p.Thr3867Arg)
c.11375C>G (p.Thr3792Arg)
c.9374C>G (p.Thr3125Arg)
c.8603C>G (p.Thr2868Arg)
c.5975C>G (p.Thr1992Arg)
c.5024C>G (p.Thr1675Arg)
15g.28141589G>TCA391381573HERC2c.11858C>A (p.Thr3953Lys)
c.3569C>A (p.Thr1190Lys)
c.11744C>A (p.Thr3915Lys)
c.11843C>A (p.Thr3948Lys)
c.11600C>A (p.Thr3867Lys)
c.11375C>A (p.Thr3792Lys)
c.9374C>A (p.Thr3125Lys)
c.8603C>A (p.Thr2868Lys)
c.5975C>A (p.Thr1992Lys)
c.5024C>A (p.Thr1675Lys)
15g.28141590T>ACA391381579HERC2c.11857A>T (p.Thr3953Ser)
c.3568A>T (p.Thr1190Ser)
c.11743A>T (p.Thr3915Ser)
c.11842A>T (p.Thr3948Ser)
c.11599A>T (p.Thr3867Ser)
c.11374A>T (p.Thr3792Ser)
c.9373A>T (p.Thr3125Ser)
c.8602A>T (p.Thr2868Ser)
c.5974A>T (p.Thr1992Ser)
c.5023A>T (p.Thr1675Ser)
15g.28141590T>CCA391381576HERC2c.11857A>G (p.Thr3953Ala)
c.3568A>G (p.Thr1190Ala)
c.11743A>G (p.Thr3915Ala)
c.11842A>G (p.Thr3948Ala)
c.11599A>G (p.Thr3867Ala)
c.11374A>G (p.Thr3792Ala)
c.9373A>G (p.Thr3125Ala)
c.8602A>G (p.Thr2868Ala)
c.5974A>G (p.Thr1992Ala)
c.5023A>G (p.Thr1675Ala)
 dbSNP gnomAD v3 gnomAD v4
15g.28141590T>GCA391381578HERC2c.11857A>C (p.Thr3953Pro)
c.3568A>C (p.Thr1190Pro)
c.11743A>C (p.Thr3915Pro)
c.11842A>C (p.Thr3948Pro)
c.11599A>C (p.Thr3867Pro)
c.11374A>C (p.Thr3792Pro)
c.9373A>C (p.Thr3125Pro)
c.8602A>C (p.Thr2868Pro)
c.5974A>C (p.Thr1992Pro)
c.5023A>C (p.Thr1675Pro)
15g.28141590T=CA2166479940HERC2c.11857A= (p.Thr3953=)
c.3568A= (p.Thr1190=)
c.11743A= (p.Thr3915=)
c.11842A= (p.Thr3948=)
c.11599A= (p.Thr3867=)
c.11374A= (p.Thr3792=)
c.9373A= (p.Thr3125=)
c.8602A= (p.Thr2868=)
c.5974A= (p.Thr1992=)
c.5023A= (p.Thr1675=)
15g.28141591T>ACA489234878HERC2c.11856A>T (p.Gly3952=)
c.3567A>T (p.Gly1189=)
c.11742A>T (p.Gly3914=)
c.11841A>T (p.Gly3947=)
c.11598A>T (p.Gly3866=)
c.11373A>T (p.Gly3791=)
c.9372A>T (p.Gly3124=)
c.8601A>T (p.Gly2867=)
c.5973A>T (p.Gly1991=)
c.5022A>T (p.Gly1674=)
15g.28141591T>CCA489234879HERC2c.11856A>G (p.Gly3952=)
c.3567A>G (p.Gly1189=)
c.11742A>G (p.Gly3914=)
c.11841A>G (p.Gly3947=)
c.11598A>G (p.Gly3866=)
c.11373A>G (p.Gly3791=)
c.9372A>G (p.Gly3124=)
c.8601A>G (p.Gly2867=)
c.5973A>G (p.Gly1991=)
c.5022A>G (p.Gly1674=)
15g.28141591T>GCA489234880HERC2c.11856A>C (p.Gly3952=)
c.3567A>C (p.Gly1189=)
c.11742A>C (p.Gly3914=)
c.11841A>C (p.Gly3947=)
c.11598A>C (p.Gly3866=)
c.11373A>C (p.Gly3791=)
c.9372A>C (p.Gly3124=)
c.8601A>C (p.Gly2867=)
c.5973A>C (p.Gly1991=)
c.5022A>C (p.Gly1674=)
15g.28141592C>ACA391381581HERC2c.11855G>T (p.Gly3952Val)
c.3566G>T (p.Gly1189Val)
c.11741G>T (p.Gly3914Val)
c.11840G>T (p.Gly3947Val)
c.11597G>T (p.Gly3866Val)
c.11372G>T (p.Gly3791Val)
c.9371G>T (p.Gly3124Val)
c.8600G>T (p.Gly2867Val)
c.5972G>T (p.Gly1991Val)
c.5021G>T (p.Gly1674Val)
15g.28141592C>GCA391381583HERC2c.11855G>C (p.Gly3952Ala)
c.3566G>C (p.Gly1189Ala)
c.11741G>C (p.Gly3914Ala)
c.11840G>C (p.Gly3947Ala)
c.11597G>C (p.Gly3866Ala)
c.11372G>C (p.Gly3791Ala)
c.9371G>C (p.Gly3124Ala)
c.8600G>C (p.Gly2867Ala)
c.5972G>C (p.Gly1991Ala)
c.5021G>C (p.Gly1674Ala)
15g.28141592C>TCA391381585HERC2c.11855G>A (p.Gly3952Glu)
c.3566G>A (p.Gly1189Glu)
c.11741G>A (p.Gly3914Glu)
c.11840G>A (p.Gly3947Glu)
c.11597G>A (p.Gly3866Glu)
c.11372G>A (p.Gly3791Glu)
c.9371G>A (p.Gly3124Glu)
c.8600G>A (p.Gly2867Glu)
c.5972G>A (p.Gly1991Glu)
c.5021G>A (p.Gly1674Glu)
15g.28141593C>ACA391381586HERC2c.11854G>T (p.Gly3952Ter)
c.3565G>T (p.Gly1189Ter)
c.11740G>T (p.Gly3914Ter)
c.11839G>T (p.Gly3947Ter)
c.11596G>T (p.Gly3866Ter)
c.11371G>T (p.Gly3791Ter)
c.9370G>T (p.Gly3124Ter)
c.8599G>T (p.Gly2867Ter)
c.5971G>T (p.Gly1991Ter)
c.5020G>T (p.Gly1674Ter)
 COSMIC
15g.28141593C>GCA391381588HERC2c.11854G>C (p.Gly3952Arg)
c.3565G>C (p.Gly1189Arg)
c.11740G>C (p.Gly3914Arg)
c.11839G>C (p.Gly3947Arg)
c.11596G>C (p.Gly3866Arg)
c.11371G>C (p.Gly3791Arg)
c.9370G>C (p.Gly3124Arg)
c.8599G>C (p.Gly2867Arg)
c.5971G>C (p.Gly1991Arg)
c.5020G>C (p.Gly1674Arg)
15g.28141593C>TCA391381590HERC2c.11854G>A (p.Gly3952Arg)
c.3565G>A (p.Gly1189Arg)
c.11740G>A (p.Gly3914Arg)
c.11839G>A (p.Gly3947Arg)
c.11596G>A (p.Gly3866Arg)
c.11371G>A (p.Gly3791Arg)
c.9370G>A (p.Gly3124Arg)
c.8599G>A (p.Gly2867Arg)
c.5971G>A (p.Gly1991Arg)
c.5020G>A (p.Gly1674Arg)
15g.28141594A>CCA391381592HERC2c.11853T>G (p.Ser3951Arg)
c.3564T>G (p.Ser1188Arg)
c.11739T>G (p.Ser3913Arg)
c.11838T>G (p.Ser3946Arg)
c.11595T>G (p.Ser3865Arg)
c.11370T>G (p.Ser3790Arg)
c.9369T>G (p.Ser3123Arg)
c.8598T>G (p.Ser2866Arg)
c.5970T>G (p.Ser1990Arg)
c.5019T>G (p.Ser1673Arg)
15g.28141594A>GCA489234886HERC2c.11853T>C (p.Ser3951=)
c.3564T>C (p.Ser1188=)
c.11739T>C (p.Ser3913=)
c.11838T>C (p.Ser3946=)
c.11595T>C (p.Ser3865=)
c.11370T>C (p.Ser3790=)
c.9369T>C (p.Ser3123=)
c.8598T>C (p.Ser2866=)
c.5970T>C (p.Ser1990=)
c.5019T>C (p.Ser1673=)
15g.28141594A>TCA391381593HERC2c.11853T>A (p.Ser3951Arg)
c.3564T>A (p.Ser1188Arg)
c.11739T>A (p.Ser3913Arg)
c.11838T>A (p.Ser3946Arg)
c.11595T>A (p.Ser3865Arg)
c.11370T>A (p.Ser3790Arg)
c.9369T>A (p.Ser3123Arg)
c.8598T>A (p.Ser2866Arg)
c.5970T>A (p.Ser1990Arg)
c.5019T>A (p.Ser1673Arg)
15g.28141595C>ACA391381595HERC2c.11852G>T (p.Ser3951Ile)
c.3563G>T (p.Ser1188Ile)
c.11738G>T (p.Ser3913Ile)
c.11837G>T (p.Ser3946Ile)
c.11594G>T (p.Ser3865Ile)
c.11369G>T (p.Ser3790Ile)
c.9368G>T (p.Ser3123Ile)
c.8597G>T (p.Ser2866Ile)
c.5969G>T (p.Ser1990Ile)
c.5018G>T (p.Ser1673Ile)
15g.28141595C>GCA391381597HERC2c.11852G>C (p.Ser3951Thr)
c.3563G>C (p.Ser1188Thr)
c.11738G>C (p.Ser3913Thr)
c.11837G>C (p.Ser3946Thr)
c.11594G>C (p.Ser3865Thr)
c.11369G>C (p.Ser3790Thr)
c.9368G>C (p.Ser3123Thr)
c.8597G>C (p.Ser2866Thr)
c.5969G>C (p.Ser1990Thr)
c.5018G>C (p.Ser1673Thr)
15g.28141595C>TCA391381598HERC2c.11852G>A (p.Ser3951Asn)
c.3563G>A (p.Ser1188Asn)
c.11738G>A (p.Ser3913Asn)
c.11837G>A (p.Ser3946Asn)
c.11594G>A (p.Ser3865Asn)
c.11369G>A (p.Ser3790Asn)
c.9368G>A (p.Ser3123Asn)
c.8597G>A (p.Ser2866Asn)
c.5969G>A (p.Ser1990Asn)
c.5018G>A (p.Ser1673Asn)
 gnomAD v4
15g.28141596_28141598dupCA2627386249HERC2c.11850_11852dup (p.Ser3951_Gly3952insSer)
c.3561_3563dup (p.Ser1188_Gly1189insSer)
c.11736_11738dup (p.Ser3913_Gly3914insSer)
c.11835_11837dup (p.Ser3946_Gly3947insSer)
c.11592_11594dup (p.Ser3865_Gly3866insSer)
c.11367_11369dup (p.Ser3790_Gly3791insSer)
c.9366_9368dup (p.Ser3123_Gly3124insSer)
c.8595_8597dup (p.Ser2866_Gly2867insSer)
c.5967_5969dup (p.Ser1990_Gly1991insSer)
c.5016_5018dup (p.Ser1673_Gly1674insSer)
 gnomAD v4
15g.28141596T>ACA391381601HERC2c.11851A>T (p.Ser3951Cys)
c.3562A>T (p.Ser1188Cys)
c.11737A>T (p.Ser3913Cys)
c.11836A>T (p.Ser3946Cys)
c.11593A>T (p.Ser3865Cys)
c.11368A>T (p.Ser3790Cys)
c.9367A>T (p.Ser3123Cys)
c.8596A>T (p.Ser2866Cys)
c.5968A>T (p.Ser1990Cys)
c.5017A>T (p.Ser1673Cys)
15g.28141596T>CCA391381604HERC2c.11851A>G (p.Ser3951Gly)
c.3562A>G (p.Ser1188Gly)
c.11737A>G (p.Ser3913Gly)
c.11836A>G (p.Ser3946Gly)
c.11593A>G (p.Ser3865Gly)
c.11368A>G (p.Ser3790Gly)
c.9367A>G (p.Ser3123Gly)
c.8596A>G (p.Ser2866Gly)
c.5968A>G (p.Ser1990Gly)
c.5017A>G (p.Ser1673Gly)
15g.28141596T>GCA391381602HERC2c.11851A>C (p.Ser3951Arg)
c.3562A>C (p.Ser1188Arg)
c.11737A>C (p.Ser3913Arg)
c.11836A>C (p.Ser3946Arg)
c.11593A>C (p.Ser3865Arg)
c.11368A>C (p.Ser3790Arg)
c.9367A>C (p.Ser3123Arg)
c.8596A>C (p.Ser2866Arg)
c.5968A>C (p.Ser1990Arg)
c.5017A>C (p.Ser1673Arg)
15g.28141597G>ACA489234894HERC2c.11850C>T (p.Gly3950=)
c.3561C>T (p.Gly1187=)
c.11736C>T (p.Gly3912=)
c.11835C>T (p.Gly3945=)
c.11592C>T (p.Gly3864=)
c.11367C>T (p.Gly3789=)
c.9366C>T (p.Gly3122=)
c.8595C>T (p.Gly2865=)
c.5967C>T (p.Gly1989=)
c.5016C>T (p.Gly1672=)
15g.28141597G>CCA489234895HERC2c.11850C>G (p.Gly3950=)
c.3561C>G (p.Gly1187=)
c.11736C>G (p.Gly3912=)
c.11835C>G (p.Gly3945=)
c.11592C>G (p.Gly3864=)
c.11367C>G (p.Gly3789=)
c.9366C>G (p.Gly3122=)
c.8595C>G (p.Gly2865=)
c.5967C>G (p.Gly1989=)
c.5016C>G (p.Gly1672=)
15g.28141597G>TCA489234896HERC2c.11850C>A (p.Gly3950=)
c.3561C>A (p.Gly1187=)
c.11736C>A (p.Gly3912=)
c.11835C>A (p.Gly3945=)
c.11592C>A (p.Gly3864=)
c.11367C>A (p.Gly3789=)
c.9366C>A (p.Gly3122=)
c.8595C>A (p.Gly2865=)
c.5967C>A (p.Gly1989=)
c.5016C>A (p.Gly1672=)
15g.28141598C>ACA391381606HERC2c.11849G>T (p.Gly3950Val)
c.3560G>T (p.Gly1187Val)
c.11735G>T (p.Gly3912Val)
c.11834G>T (p.Gly3945Val)
c.11591G>T (p.Gly3864Val)
c.11366G>T (p.Gly3789Val)
c.9365G>T (p.Gly3122Val)
c.8594G>T (p.Gly2865Val)
c.5966G>T (p.Gly1989Val)
c.5015G>T (p.Gly1672Val)
15g.28141598C>GCA391381608HERC2c.11849G>C (p.Gly3950Ala)
c.3560G>C (p.Gly1187Ala)
c.11735G>C (p.Gly3912Ala)
c.11834G>C (p.Gly3945Ala)
c.11591G>C (p.Gly3864Ala)
c.11366G>C (p.Gly3789Ala)
c.9365G>C (p.Gly3122Ala)
c.8594G>C (p.Gly2865Ala)
c.5966G>C (p.Gly1989Ala)
c.5015G>C (p.Gly1672Ala)
15g.28141598C>TCA391381610HERC2c.11849G>A (p.Gly3950Asp)
c.3560G>A (p.Gly1187Asp)
c.11735G>A (p.Gly3912Asp)
c.11834G>A (p.Gly3945Asp)
c.11591G>A (p.Gly3864Asp)
c.11366G>A (p.Gly3789Asp)
c.9365G>A (p.Gly3122Asp)
c.8594G>A (p.Gly2865Asp)
c.5966G>A (p.Gly1989Asp)
c.5015G>A (p.Gly1672Asp)

Number of alleles fetched