Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53534567A>CCA413146190HUWE1c.12564T>G (p.Asp4188Glu)
c.12780T>G (p.Asp4260Glu)
c.3247T>G
n.93T>G
c.12753T>G (p.Asp4251Glu)
c.13029T>G (p.Asp4343Glu)
c.13026T>G (p.Asp4342Glu)
c.12984T>G (p.Asp4328Glu)
c.12981T>G (p.Asp4327Glu)
c.12978T>G (p.Asp4326Glu)
c.12930T>G (p.Asp4310Glu)
c.12627T>G (p.Asp4209Glu)
c.13161T>G (p.Asp4387Glu)
c.13158T>G (p.Asp4386Glu)
c.13140T>G (p.Asp4380Glu)
c.13116T>G (p.Asp4372Glu)
c.13113T>G (p.Asp4371Glu)
c.13110T>G (p.Asp4370Glu)
c.13062T>G (p.Asp4354Glu)
c.13050T>G (p.Asp4350Glu)
c.12912T>G (p.Asp4304Glu)
c.12759T>G (p.Asp4253Glu)
Xg.53534567A>GCA516420410HUWE1c.12564T>C (p.Asp4188=)
c.12780T>C (p.Asp4260=)
c.3247T>C
n.93T>C
c.12753T>C (p.Asp4251=)
c.13029T>C (p.Asp4343=)
c.13026T>C (p.Asp4342=)
c.12984T>C (p.Asp4328=)
c.12981T>C (p.Asp4327=)
c.12978T>C (p.Asp4326=)
c.12930T>C (p.Asp4310=)
c.12627T>C (p.Asp4209=)
c.13161T>C (p.Asp4387=)
c.13158T>C (p.Asp4386=)
c.13140T>C (p.Asp4380=)
c.13116T>C (p.Asp4372=)
c.13113T>C (p.Asp4371=)
c.13110T>C (p.Asp4370=)
c.13062T>C (p.Asp4354=)
c.13050T>C (p.Asp4350=)
c.12912T>C (p.Asp4304=)
c.12759T>C (p.Asp4253=)
Xg.53534567A>TCA413146194HUWE1c.12564T>A (p.Asp4188Glu)
c.12780T>A (p.Asp4260Glu)
c.3247T>A
n.93T>A
c.12753T>A (p.Asp4251Glu)
c.13029T>A (p.Asp4343Glu)
c.13026T>A (p.Asp4342Glu)
c.12984T>A (p.Asp4328Glu)
c.12981T>A (p.Asp4327Glu)
c.12978T>A (p.Asp4326Glu)
c.12930T>A (p.Asp4310Glu)
c.12627T>A (p.Asp4209Glu)
c.13161T>A (p.Asp4387Glu)
c.13158T>A (p.Asp4386Glu)
c.13140T>A (p.Asp4380Glu)
c.13116T>A (p.Asp4372Glu)
c.13113T>A (p.Asp4371Glu)
c.13110T>A (p.Asp4370Glu)
c.13062T>A (p.Asp4354Glu)
c.13050T>A (p.Asp4350Glu)
c.12912T>A (p.Asp4304Glu)
c.12759T>A (p.Asp4253Glu)
Xg.53534568T>ACA413146200HUWE1c.12563A>T (p.Asp4188Val)
c.12779A>T (p.Asp4260Val)
c.3246A>T
n.92A>T
c.12752A>T (p.Asp4251Val)
c.13028A>T (p.Asp4343Val)
c.13025A>T (p.Asp4342Val)
c.12983A>T (p.Asp4328Val)
c.12980A>T (p.Asp4327Val)
c.12977A>T (p.Asp4326Val)
c.12929A>T (p.Asp4310Val)
c.12626A>T (p.Asp4209Val)
c.13160A>T (p.Asp4387Val)
c.13157A>T (p.Asp4386Val)
c.13139A>T (p.Asp4380Val)
c.13115A>T (p.Asp4372Val)
c.13112A>T (p.Asp4371Val)
c.13109A>T (p.Asp4370Val)
c.13061A>T (p.Asp4354Val)
c.13049A>T (p.Asp4350Val)
c.12911A>T (p.Asp4304Val)
c.12758A>T (p.Asp4253Val)
Xg.53534568T>CCA413146201HUWE1c.12563A>G (p.Asp4188Gly)
c.12779A>G (p.Asp4260Gly)
c.3246A>G
n.92A>G
c.12752A>G (p.Asp4251Gly)
c.13028A>G (p.Asp4343Gly)
c.13025A>G (p.Asp4342Gly)
c.12983A>G (p.Asp4328Gly)
c.12980A>G (p.Asp4327Gly)
c.12977A>G (p.Asp4326Gly)
c.12929A>G (p.Asp4310Gly)
c.12626A>G (p.Asp4209Gly)
c.13160A>G (p.Asp4387Gly)
c.13157A>G (p.Asp4386Gly)
c.13139A>G (p.Asp4380Gly)
c.13115A>G (p.Asp4372Gly)
c.13112A>G (p.Asp4371Gly)
c.13109A>G (p.Asp4370Gly)
c.13061A>G (p.Asp4354Gly)
c.13049A>G (p.Asp4350Gly)
c.12911A>G (p.Asp4304Gly)
c.12758A>G (p.Asp4253Gly)
 gnomAD v4
Xg.53534568T>GCA413146207HUWE1c.12563A>C (p.Asp4188Ala)
c.12779A>C (p.Asp4260Ala)
c.3246A>C
n.92A>C
c.12752A>C (p.Asp4251Ala)
c.13028A>C (p.Asp4343Ala)
c.13025A>C (p.Asp4342Ala)
c.12983A>C (p.Asp4328Ala)
c.12980A>C (p.Asp4327Ala)
c.12977A>C (p.Asp4326Ala)
c.12929A>C (p.Asp4310Ala)
c.12626A>C (p.Asp4209Ala)
c.13160A>C (p.Asp4387Ala)
c.13157A>C (p.Asp4386Ala)
c.13139A>C (p.Asp4380Ala)
c.13115A>C (p.Asp4372Ala)
c.13112A>C (p.Asp4371Ala)
c.13109A>C (p.Asp4370Ala)
c.13061A>C (p.Asp4354Ala)
c.13049A>C (p.Asp4350Ala)
c.12911A>C (p.Asp4304Ala)
c.12758A>C (p.Asp4253Ala)
Xg.53534569C>ACA413146211HUWE1c.12562G>T (p.Asp4188Tyr)
c.12778G>T (p.Asp4260Tyr)
c.3245G>T
n.91G>T
c.12751G>T (p.Asp4251Tyr)
c.13027G>T (p.Asp4343Tyr)
c.13024G>T (p.Asp4342Tyr)
c.12982G>T (p.Asp4328Tyr)
c.12979G>T (p.Asp4327Tyr)
c.12976G>T (p.Asp4326Tyr)
c.12928G>T (p.Asp4310Tyr)
c.12625G>T (p.Asp4209Tyr)
c.13159G>T (p.Asp4387Tyr)
c.13156G>T (p.Asp4386Tyr)
c.13138G>T (p.Asp4380Tyr)
c.13114G>T (p.Asp4372Tyr)
c.13111G>T (p.Asp4371Tyr)
c.13108G>T (p.Asp4370Tyr)
c.13060G>T (p.Asp4354Tyr)
c.13048G>T (p.Asp4350Tyr)
c.12910G>T (p.Asp4304Tyr)
c.12757G>T (p.Asp4253Tyr)
Xg.53534569C=CA2429869108HUWE1c.12562G= (p.Asp4188=)
c.12778G= (p.Asp4260=)
c.3245G=
n.91G=
c.12751G= (p.Asp4251=)
c.13027G= (p.Asp4343=)
c.13024G= (p.Asp4342=)
c.12982G= (p.Asp4328=)
c.12979G= (p.Asp4327=)
c.12976G= (p.Asp4326=)
c.12928G= (p.Asp4310=)
c.12625G= (p.Asp4209=)
c.13159G= (p.Asp4387=)
c.13156G= (p.Asp4386=)
c.13138G= (p.Asp4380=)
c.13114G= (p.Asp4372=)
c.13111G= (p.Asp4371=)
c.13108G= (p.Asp4370=)
c.13060G= (p.Asp4354=)
c.13048G= (p.Asp4350=)
c.12910G= (p.Asp4304=)
c.12757G= (p.Asp4253=)
Xg.53534569C>GCA413146212HUWE1c.12562G>C (p.Asp4188His)
c.12778G>C (p.Asp4260His)
c.3245G>C
n.91G>C
c.12751G>C (p.Asp4251His)
c.13027G>C (p.Asp4343His)
c.13024G>C (p.Asp4342His)
c.12982G>C (p.Asp4328His)
c.12979G>C (p.Asp4327His)
c.12976G>C (p.Asp4326His)
c.12928G>C (p.Asp4310His)
c.12625G>C (p.Asp4209His)
c.13159G>C (p.Asp4387His)
c.13156G>C (p.Asp4386His)
c.13138G>C (p.Asp4380His)
c.13114G>C (p.Asp4372His)
c.13111G>C (p.Asp4371His)
c.13108G>C (p.Asp4370His)
c.13060G>C (p.Asp4354His)
c.13048G>C (p.Asp4350His)
c.12910G>C (p.Asp4304His)
c.12757G>C (p.Asp4253His)
Xg.53534569C>TCA413146213HUWE1c.12562G>A (p.Asp4188Asn)
c.12778G>A (p.Asp4260Asn)
c.3245G>A
n.91G>A
c.12751G>A (p.Asp4251Asn)
c.13027G>A (p.Asp4343Asn)
c.13024G>A (p.Asp4342Asn)
c.12982G>A (p.Asp4328Asn)
c.12979G>A (p.Asp4327Asn)
c.12976G>A (p.Asp4326Asn)
c.12928G>A (p.Asp4310Asn)
c.12625G>A (p.Asp4209Asn)
c.13159G>A (p.Asp4387Asn)
c.13156G>A (p.Asp4386Asn)
c.13138G>A (p.Asp4380Asn)
c.13114G>A (p.Asp4372Asn)
c.13111G>A (p.Asp4371Asn)
c.13108G>A (p.Asp4370Asn)
c.13060G>A (p.Asp4354Asn)
c.13048G>A (p.Asp4350Asn)
c.12910G>A (p.Asp4304Asn)
c.12757G>A (p.Asp4253Asn)
 ClinVar dbSNP gnomAD v4
Xg.53534570G>ACA10421144HUWE1c.12561C>T (p.Ile4187=)
c.12777C>T (p.Ile4259=)
c.3244C>T
n.90C>T
c.12750C>T (p.Ile4250=)
c.13026C>T (p.Ile4342=)
c.13023C>T (p.Ile4341=)
c.12981C>T (p.Ile4327=)
c.12978C>T (p.Ile4326=)
c.12975C>T (p.Ile4325=)
c.12927C>T (p.Ile4309=)
c.12624C>T (p.Ile4208=)
c.13158C>T (p.Ile4386=)
c.13155C>T (p.Ile4385=)
c.13137C>T (p.Ile4379=)
c.13113C>T (p.Ile4371=)
c.13110C>T (p.Ile4370=)
c.13107C>T (p.Ile4369=)
c.13059C>T (p.Ile4353=)
c.13047C>T (p.Ile4349=)
c.12909C>T (p.Ile4303=)
c.12756C>T (p.Ile4252=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534570G>CCA413146225HUWE1c.12561C>G (p.Ile4187Met)
c.12777C>G (p.Ile4259Met)
c.3244C>G
n.90C>G
c.12750C>G (p.Ile4250Met)
c.13026C>G (p.Ile4342Met)
c.13023C>G (p.Ile4341Met)
c.12981C>G (p.Ile4327Met)
c.12978C>G (p.Ile4326Met)
c.12975C>G (p.Ile4325Met)
c.12927C>G (p.Ile4309Met)
c.12624C>G (p.Ile4208Met)
c.13158C>G (p.Ile4386Met)
c.13155C>G (p.Ile4385Met)
c.13137C>G (p.Ile4379Met)
c.13113C>G (p.Ile4371Met)
c.13110C>G (p.Ile4370Met)
c.13107C>G (p.Ile4369Met)
c.13059C>G (p.Ile4353Met)
c.13047C>G (p.Ile4349Met)
c.12909C>G (p.Ile4303Met)
c.12756C>G (p.Ile4252Met)
Xg.53534570G=CA2429869109HUWE1c.12561C= (p.Ile4187=)
c.12777C= (p.Ile4259=)
c.3244C=
n.90C=
c.12750C= (p.Ile4250=)
c.13026C= (p.Ile4342=)
c.13023C= (p.Ile4341=)
c.12981C= (p.Ile4327=)
c.12978C= (p.Ile4326=)
c.12975C= (p.Ile4325=)
c.12927C= (p.Ile4309=)
c.12624C= (p.Ile4208=)
c.13158C= (p.Ile4386=)
c.13155C= (p.Ile4385=)
c.13137C= (p.Ile4379=)
c.13113C= (p.Ile4371=)
c.13110C= (p.Ile4370=)
c.13107C= (p.Ile4369=)
c.13059C= (p.Ile4353=)
c.13047C= (p.Ile4349=)
c.12909C= (p.Ile4303=)
c.12756C= (p.Ile4252=)
Xg.53534570G>TCA10421145HUWE1c.12561C>A (p.Ile4187=)
c.12777C>A (p.Ile4259=)
c.3244C>A
n.90C>A
c.12750C>A (p.Ile4250=)
c.13026C>A (p.Ile4342=)
c.13023C>A (p.Ile4341=)
c.12981C>A (p.Ile4327=)
c.12978C>A (p.Ile4326=)
c.12975C>A (p.Ile4325=)
c.12927C>A (p.Ile4309=)
c.12624C>A (p.Ile4208=)
c.13158C>A (p.Ile4386=)
c.13155C>A (p.Ile4385=)
c.13137C>A (p.Ile4379=)
c.13113C>A (p.Ile4371=)
c.13110C>A (p.Ile4370=)
c.13107C>A (p.Ile4369=)
c.13059C>A (p.Ile4353=)
c.13047C>A (p.Ile4349=)
c.12909C>A (p.Ile4303=)
c.12756C>A (p.Ile4252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534571A>CCA413146232HUWE1c.12560T>G (p.Ile4187Ser)
c.12776T>G (p.Ile4259Ser)
c.3243T>G
n.89T>G
c.12749T>G (p.Ile4250Ser)
c.13025T>G (p.Ile4342Ser)
c.13022T>G (p.Ile4341Ser)
c.12980T>G (p.Ile4327Ser)
c.12977T>G (p.Ile4326Ser)
c.12974T>G (p.Ile4325Ser)
c.12926T>G (p.Ile4309Ser)
c.12623T>G (p.Ile4208Ser)
c.13157T>G (p.Ile4386Ser)
c.13154T>G (p.Ile4385Ser)
c.13136T>G (p.Ile4379Ser)
c.13112T>G (p.Ile4371Ser)
c.13109T>G (p.Ile4370Ser)
c.13106T>G (p.Ile4369Ser)
c.13058T>G (p.Ile4353Ser)
c.13046T>G (p.Ile4349Ser)
c.12908T>G (p.Ile4303Ser)
c.12755T>G (p.Ile4252Ser)
Xg.53534571A>GCA413146237HUWE1c.12560T>C (p.Ile4187Thr)
c.12776T>C (p.Ile4259Thr)
c.3243T>C
n.89T>C
c.12749T>C (p.Ile4250Thr)
c.13025T>C (p.Ile4342Thr)
c.13022T>C (p.Ile4341Thr)
c.12980T>C (p.Ile4327Thr)
c.12977T>C (p.Ile4326Thr)
c.12974T>C (p.Ile4325Thr)
c.12926T>C (p.Ile4309Thr)
c.12623T>C (p.Ile4208Thr)
c.13157T>C (p.Ile4386Thr)
c.13154T>C (p.Ile4385Thr)
c.13136T>C (p.Ile4379Thr)
c.13112T>C (p.Ile4371Thr)
c.13109T>C (p.Ile4370Thr)
c.13106T>C (p.Ile4369Thr)
c.13058T>C (p.Ile4353Thr)
c.13046T>C (p.Ile4349Thr)
c.12908T>C (p.Ile4303Thr)
c.12755T>C (p.Ile4252Thr)
Xg.53534571A>TCA413146241HUWE1c.12560T>A (p.Ile4187Asn)
c.12776T>A (p.Ile4259Asn)
c.3243T>A
n.89T>A
c.12749T>A (p.Ile4250Asn)
c.13025T>A (p.Ile4342Asn)
c.13022T>A (p.Ile4341Asn)
c.12980T>A (p.Ile4327Asn)
c.12977T>A (p.Ile4326Asn)
c.12974T>A (p.Ile4325Asn)
c.12926T>A (p.Ile4309Asn)
c.12623T>A (p.Ile4208Asn)
c.13157T>A (p.Ile4386Asn)
c.13154T>A (p.Ile4385Asn)
c.13136T>A (p.Ile4379Asn)
c.13112T>A (p.Ile4371Asn)
c.13109T>A (p.Ile4370Asn)
c.13106T>A (p.Ile4369Asn)
c.13058T>A (p.Ile4353Asn)
c.13046T>A (p.Ile4349Asn)
c.12908T>A (p.Ile4303Asn)
c.12755T>A (p.Ile4252Asn)
Xg.53534572T>ACA413146260HUWE1c.12559A>T (p.Ile4187Phe)
c.12775A>T (p.Ile4259Phe)
c.3242A>T
n.88A>T
c.12748A>T (p.Ile4250Phe)
c.13024A>T (p.Ile4342Phe)
c.13021A>T (p.Ile4341Phe)
c.12979A>T (p.Ile4327Phe)
c.12976A>T (p.Ile4326Phe)
c.12973A>T (p.Ile4325Phe)
c.12925A>T (p.Ile4309Phe)
c.12622A>T (p.Ile4208Phe)
c.13156A>T (p.Ile4386Phe)
c.13153A>T (p.Ile4385Phe)
c.13135A>T (p.Ile4379Phe)
c.13111A>T (p.Ile4371Phe)
c.13108A>T (p.Ile4370Phe)
c.13105A>T (p.Ile4369Phe)
c.13057A>T (p.Ile4353Phe)
c.13045A>T (p.Ile4349Phe)
c.12907A>T (p.Ile4303Phe)
c.12754A>T (p.Ile4252Phe)
Xg.53534572T>CCA413146262HUWE1c.12559A>G (p.Ile4187Val)
c.12775A>G (p.Ile4259Val)
c.3242A>G
n.88A>G
c.12748A>G (p.Ile4250Val)
c.13024A>G (p.Ile4342Val)
c.13021A>G (p.Ile4341Val)
c.12979A>G (p.Ile4327Val)
c.12976A>G (p.Ile4326Val)
c.12973A>G (p.Ile4325Val)
c.12925A>G (p.Ile4309Val)
c.12622A>G (p.Ile4208Val)
c.13156A>G (p.Ile4386Val)
c.13153A>G (p.Ile4385Val)
c.13135A>G (p.Ile4379Val)
c.13111A>G (p.Ile4371Val)
c.13108A>G (p.Ile4370Val)
c.13105A>G (p.Ile4369Val)
c.13057A>G (p.Ile4353Val)
c.13045A>G (p.Ile4349Val)
c.12907A>G (p.Ile4303Val)
c.12754A>G (p.Ile4252Val)
 COSMIC COSMIC
Xg.53534572T>GCA413146257HUWE1c.12559A>C (p.Ile4187Leu)
c.12775A>C (p.Ile4259Leu)
c.3242A>C
n.88A>C
c.12748A>C (p.Ile4250Leu)
c.13024A>C (p.Ile4342Leu)
c.13021A>C (p.Ile4341Leu)
c.12979A>C (p.Ile4327Leu)
c.12976A>C (p.Ile4326Leu)
c.12973A>C (p.Ile4325Leu)
c.12925A>C (p.Ile4309Leu)
c.12622A>C (p.Ile4208Leu)
c.13156A>C (p.Ile4386Leu)
c.13153A>C (p.Ile4385Leu)
c.13135A>C (p.Ile4379Leu)
c.13111A>C (p.Ile4371Leu)
c.13108A>C (p.Ile4370Leu)
c.13105A>C (p.Ile4369Leu)
c.13057A>C (p.Ile4353Leu)
c.13045A>C (p.Ile4349Leu)
c.12907A>C (p.Ile4303Leu)
c.12754A>C (p.Ile4252Leu)
Xg.53534573G>ACA516420432HUWE1c.12558C>T (p.Asp4186=)
c.12774C>T (p.Asp4258=)
c.3241C>T
n.87C>T
c.12747C>T (p.Asp4249=)
c.13023C>T (p.Asp4341=)
c.13020C>T (p.Asp4340=)
c.12978C>T (p.Asp4326=)
c.12975C>T (p.Asp4325=)
c.12972C>T (p.Asp4324=)
c.12924C>T (p.Asp4308=)
c.12621C>T (p.Asp4207=)
c.13155C>T (p.Asp4385=)
c.13152C>T (p.Asp4384=)
c.13134C>T (p.Asp4378=)
c.13110C>T (p.Asp4370=)
c.13107C>T (p.Asp4369=)
c.13104C>T (p.Asp4368=)
c.13056C>T (p.Asp4352=)
c.13044C>T (p.Asp4348=)
c.12906C>T (p.Asp4302=)
c.12753C>T (p.Asp4251=)
 ClinVar dbSNP gnomAD v4
Xg.53534573G>CCA413146266HUWE1c.12558C>G (p.Asp4186Glu)
c.12774C>G (p.Asp4258Glu)
c.3241C>G
n.87C>G
c.12747C>G (p.Asp4249Glu)
c.13023C>G (p.Asp4341Glu)
c.13020C>G (p.Asp4340Glu)
c.12978C>G (p.Asp4326Glu)
c.12975C>G (p.Asp4325Glu)
c.12972C>G (p.Asp4324Glu)
c.12924C>G (p.Asp4308Glu)
c.12621C>G (p.Asp4207Glu)
c.13155C>G (p.Asp4385Glu)
c.13152C>G (p.Asp4384Glu)
c.13134C>G (p.Asp4378Glu)
c.13110C>G (p.Asp4370Glu)
c.13107C>G (p.Asp4369Glu)
c.13104C>G (p.Asp4368Glu)
c.13056C>G (p.Asp4352Glu)
c.13044C>G (p.Asp4348Glu)
c.12906C>G (p.Asp4302Glu)
c.12753C>G (p.Asp4251Glu)
Xg.53534573G=CA2429869110HUWE1c.12558C= (p.Asp4186=)
c.12774C= (p.Asp4258=)
c.3241C=
n.87C=
c.12747C= (p.Asp4249=)
c.13023C= (p.Asp4341=)
c.13020C= (p.Asp4340=)
c.12978C= (p.Asp4326=)
c.12975C= (p.Asp4325=)
c.12972C= (p.Asp4324=)
c.12924C= (p.Asp4308=)
c.12621C= (p.Asp4207=)
c.13155C= (p.Asp4385=)
c.13152C= (p.Asp4384=)
c.13134C= (p.Asp4378=)
c.13110C= (p.Asp4370=)
c.13107C= (p.Asp4369=)
c.13104C= (p.Asp4368=)
c.13056C= (p.Asp4352=)
c.13044C= (p.Asp4348=)
c.12906C= (p.Asp4302=)
c.12753C= (p.Asp4251=)
Xg.53534573G>TCA413146269HUWE1c.12558C>A (p.Asp4186Glu)
c.12774C>A (p.Asp4258Glu)
c.3241C>A
n.87C>A
c.12747C>A (p.Asp4249Glu)
c.13023C>A (p.Asp4341Glu)
c.13020C>A (p.Asp4340Glu)
c.12978C>A (p.Asp4326Glu)
c.12975C>A (p.Asp4325Glu)
c.12972C>A (p.Asp4324Glu)
c.12924C>A (p.Asp4308Glu)
c.12621C>A (p.Asp4207Glu)
c.13155C>A (p.Asp4385Glu)
c.13152C>A (p.Asp4384Glu)
c.13134C>A (p.Asp4378Glu)
c.13110C>A (p.Asp4370Glu)
c.13107C>A (p.Asp4369Glu)
c.13104C>A (p.Asp4368Glu)
c.13056C>A (p.Asp4352Glu)
c.13044C>A (p.Asp4348Glu)
c.12906C>A (p.Asp4302Glu)
c.12753C>A (p.Asp4251Glu)
Xg.53534574T>ACA413146272HUWE1c.12557A>T (p.Asp4186Val)
c.12773A>T (p.Asp4258Val)
c.3240A>T
n.86A>T
c.12746A>T (p.Asp4249Val)
c.13022A>T (p.Asp4341Val)
c.13019A>T (p.Asp4340Val)
c.12977A>T (p.Asp4326Val)
c.12974A>T (p.Asp4325Val)
c.12971A>T (p.Asp4324Val)
c.12923A>T (p.Asp4308Val)
c.12620A>T (p.Asp4207Val)
c.13154A>T (p.Asp4385Val)
c.13151A>T (p.Asp4384Val)
c.13133A>T (p.Asp4378Val)
c.13109A>T (p.Asp4370Val)
c.13106A>T (p.Asp4369Val)
c.13103A>T (p.Asp4368Val)
c.13055A>T (p.Asp4352Val)
c.13043A>T (p.Asp4348Val)
c.12905A>T (p.Asp4302Val)
c.12752A>T (p.Asp4251Val)
Xg.53534574T>CCA413146274HUWE1c.12557A>G (p.Asp4186Gly)
c.12773A>G (p.Asp4258Gly)
c.3240A>G
n.86A>G
c.12746A>G (p.Asp4249Gly)
c.13022A>G (p.Asp4341Gly)
c.13019A>G (p.Asp4340Gly)
c.12977A>G (p.Asp4326Gly)
c.12974A>G (p.Asp4325Gly)
c.12971A>G (p.Asp4324Gly)
c.12923A>G (p.Asp4308Gly)
c.12620A>G (p.Asp4207Gly)
c.13154A>G (p.Asp4385Gly)
c.13151A>G (p.Asp4384Gly)
c.13133A>G (p.Asp4378Gly)
c.13109A>G (p.Asp4370Gly)
c.13106A>G (p.Asp4369Gly)
c.13103A>G (p.Asp4368Gly)
c.13055A>G (p.Asp4352Gly)
c.13043A>G (p.Asp4348Gly)
c.12905A>G (p.Asp4302Gly)
c.12752A>G (p.Asp4251Gly)
Xg.53534574T>GCA413146276HUWE1c.12557A>C (p.Asp4186Ala)
c.12773A>C (p.Asp4258Ala)
c.3240A>C
n.86A>C
c.12746A>C (p.Asp4249Ala)
c.13022A>C (p.Asp4341Ala)
c.13019A>C (p.Asp4340Ala)
c.12977A>C (p.Asp4326Ala)
c.12974A>C (p.Asp4325Ala)
c.12971A>C (p.Asp4324Ala)
c.12923A>C (p.Asp4308Ala)
c.12620A>C (p.Asp4207Ala)
c.13154A>C (p.Asp4385Ala)
c.13151A>C (p.Asp4384Ala)
c.13133A>C (p.Asp4378Ala)
c.13109A>C (p.Asp4370Ala)
c.13106A>C (p.Asp4369Ala)
c.13103A>C (p.Asp4368Ala)
c.13055A>C (p.Asp4352Ala)
c.13043A>C (p.Asp4348Ala)
c.12905A>C (p.Asp4302Ala)
c.12752A>C (p.Asp4251Ala)
Xg.53534575C>ACA413146279HUWE1c.12556G>T (p.Asp4186Tyr)
c.12772G>T (p.Asp4258Tyr)
c.3239G>T
n.85G>T
c.12745G>T (p.Asp4249Tyr)
c.13021G>T (p.Asp4341Tyr)
c.13018G>T (p.Asp4340Tyr)
c.12976G>T (p.Asp4326Tyr)
c.12973G>T (p.Asp4325Tyr)
c.12970G>T (p.Asp4324Tyr)
c.12922G>T (p.Asp4308Tyr)
c.12619G>T (p.Asp4207Tyr)
c.13153G>T (p.Asp4385Tyr)
c.13150G>T (p.Asp4384Tyr)
c.13132G>T (p.Asp4378Tyr)
c.13108G>T (p.Asp4370Tyr)
c.13105G>T (p.Asp4369Tyr)
c.13102G>T (p.Asp4368Tyr)
c.13054G>T (p.Asp4352Tyr)
c.13042G>T (p.Asp4348Tyr)
c.12904G>T (p.Asp4302Tyr)
c.12751G>T (p.Asp4251Tyr)
Xg.53534575C>GCA413146282HUWE1c.12556G>C (p.Asp4186His)
c.12772G>C (p.Asp4258His)
c.3239G>C
n.85G>C
c.12745G>C (p.Asp4249His)
c.13021G>C (p.Asp4341His)
c.13018G>C (p.Asp4340His)
c.12976G>C (p.Asp4326His)
c.12973G>C (p.Asp4325His)
c.12970G>C (p.Asp4324His)
c.12922G>C (p.Asp4308His)
c.12619G>C (p.Asp4207His)
c.13153G>C (p.Asp4385His)
c.13150G>C (p.Asp4384His)
c.13132G>C (p.Asp4378His)
c.13108G>C (p.Asp4370His)
c.13105G>C (p.Asp4369His)
c.13102G>C (p.Asp4368His)
c.13054G>C (p.Asp4352His)
c.13042G>C (p.Asp4348His)
c.12904G>C (p.Asp4302His)
c.12751G>C (p.Asp4251His)
Xg.53534575C>TCA413146285HUWE1c.12556G>A (p.Asp4186Asn)
c.12772G>A (p.Asp4258Asn)
c.3239G>A
n.85G>A
c.12745G>A (p.Asp4249Asn)
c.13021G>A (p.Asp4341Asn)
c.13018G>A (p.Asp4340Asn)
c.12976G>A (p.Asp4326Asn)
c.12973G>A (p.Asp4325Asn)
c.12970G>A (p.Asp4324Asn)
c.12922G>A (p.Asp4308Asn)
c.12619G>A (p.Asp4207Asn)
c.13153G>A (p.Asp4385Asn)
c.13150G>A (p.Asp4384Asn)
c.13132G>A (p.Asp4378Asn)
c.13108G>A (p.Asp4370Asn)
c.13105G>A (p.Asp4369Asn)
c.13102G>A (p.Asp4368Asn)
c.13054G>A (p.Asp4352Asn)
c.13042G>A (p.Asp4348Asn)
c.12904G>A (p.Asp4302Asn)
c.12751G>A (p.Asp4251Asn)
Xg.53534576A>CCA413146288HUWE1c.12555T>G (p.Ile4185Met)
c.12771T>G (p.Ile4257Met)
c.3238T>G
n.84T>G
c.12744T>G (p.Ile4248Met)
c.13020T>G (p.Ile4340Met)
c.13017T>G (p.Ile4339Met)
c.12975T>G (p.Ile4325Met)
c.12972T>G (p.Ile4324Met)
c.12969T>G (p.Ile4323Met)
c.12921T>G (p.Ile4307Met)
c.12618T>G (p.Ile4206Met)
c.13152T>G (p.Ile4384Met)
c.13149T>G (p.Ile4383Met)
c.13131T>G (p.Ile4377Met)
c.13107T>G (p.Ile4369Met)
c.13104T>G (p.Ile4368Met)
c.13101T>G (p.Ile4367Met)
c.13053T>G (p.Ile4351Met)
c.13041T>G (p.Ile4347Met)
c.12903T>G (p.Ile4301Met)
c.12750T>G (p.Ile4250Met)
Xg.53534576A>GCA516420447HUWE1c.12555T>C (p.Ile4185=)
c.12771T>C (p.Ile4257=)
c.3238T>C
n.84T>C
c.12744T>C (p.Ile4248=)
c.13020T>C (p.Ile4340=)
c.13017T>C (p.Ile4339=)
c.12975T>C (p.Ile4325=)
c.12972T>C (p.Ile4324=)
c.12969T>C (p.Ile4323=)
c.12921T>C (p.Ile4307=)
c.12618T>C (p.Ile4206=)
c.13152T>C (p.Ile4384=)
c.13149T>C (p.Ile4383=)
c.13131T>C (p.Ile4377=)
c.13107T>C (p.Ile4369=)
c.13104T>C (p.Ile4368=)
c.13101T>C (p.Ile4367=)
c.13053T>C (p.Ile4351=)
c.13041T>C (p.Ile4347=)
c.12903T>C (p.Ile4301=)
c.12750T>C (p.Ile4250=)
Xg.53534576A>TCA516420445HUWE1c.12555T>A (p.Ile4185=)
c.12771T>A (p.Ile4257=)
c.3238T>A
n.84T>A
c.12744T>A (p.Ile4248=)
c.13020T>A (p.Ile4340=)
c.13017T>A (p.Ile4339=)
c.12975T>A (p.Ile4325=)
c.12972T>A (p.Ile4324=)
c.12969T>A (p.Ile4323=)
c.12921T>A (p.Ile4307=)
c.12618T>A (p.Ile4206=)
c.13152T>A (p.Ile4384=)
c.13149T>A (p.Ile4383=)
c.13131T>A (p.Ile4377=)
c.13107T>A (p.Ile4369=)
c.13104T>A (p.Ile4368=)
c.13101T>A (p.Ile4367=)
c.13053T>A (p.Ile4351=)
c.13041T>A (p.Ile4347=)
c.12903T>A (p.Ile4301=)
c.12750T>A (p.Ile4250=)
Xg.53534577A>CCA413146292HUWE1c.12554T>G (p.Ile4185Ser)
c.12770T>G (p.Ile4257Ser)
c.3237T>G
n.83T>G
c.12743T>G (p.Ile4248Ser)
c.13019T>G (p.Ile4340Ser)
c.13016T>G (p.Ile4339Ser)
c.12974T>G (p.Ile4325Ser)
c.12971T>G (p.Ile4324Ser)
c.12968T>G (p.Ile4323Ser)
c.12920T>G (p.Ile4307Ser)
c.12617T>G (p.Ile4206Ser)
c.13151T>G (p.Ile4384Ser)
c.13148T>G (p.Ile4383Ser)
c.13130T>G (p.Ile4377Ser)
c.13106T>G (p.Ile4369Ser)
c.13103T>G (p.Ile4368Ser)
c.13100T>G (p.Ile4367Ser)
c.13052T>G (p.Ile4351Ser)
c.13040T>G (p.Ile4347Ser)
c.12902T>G (p.Ile4301Ser)
c.12749T>G (p.Ile4250Ser)
Xg.53534577A>GCA413146294HUWE1c.12554T>C (p.Ile4185Thr)
c.12770T>C (p.Ile4257Thr)
c.3237T>C
n.83T>C
c.12743T>C (p.Ile4248Thr)
c.13019T>C (p.Ile4340Thr)
c.13016T>C (p.Ile4339Thr)
c.12974T>C (p.Ile4325Thr)
c.12971T>C (p.Ile4324Thr)
c.12968T>C (p.Ile4323Thr)
c.12920T>C (p.Ile4307Thr)
c.12617T>C (p.Ile4206Thr)
c.13151T>C (p.Ile4384Thr)
c.13148T>C (p.Ile4383Thr)
c.13130T>C (p.Ile4377Thr)
c.13106T>C (p.Ile4369Thr)
c.13103T>C (p.Ile4368Thr)
c.13100T>C (p.Ile4367Thr)
c.13052T>C (p.Ile4351Thr)
c.13040T>C (p.Ile4347Thr)
c.12902T>C (p.Ile4301Thr)
c.12749T>C (p.Ile4250Thr)
 gnomAD v4
Xg.53534577A>TCA413146296HUWE1c.12554T>A (p.Ile4185Asn)
c.12770T>A (p.Ile4257Asn)
c.3237T>A
n.83T>A
c.12743T>A (p.Ile4248Asn)
c.13019T>A (p.Ile4340Asn)
c.13016T>A (p.Ile4339Asn)
c.12974T>A (p.Ile4325Asn)
c.12971T>A (p.Ile4324Asn)
c.12968T>A (p.Ile4323Asn)
c.12920T>A (p.Ile4307Asn)
c.12617T>A (p.Ile4206Asn)
c.13151T>A (p.Ile4384Asn)
c.13148T>A (p.Ile4383Asn)
c.13130T>A (p.Ile4377Asn)
c.13106T>A (p.Ile4369Asn)
c.13103T>A (p.Ile4368Asn)
c.13100T>A (p.Ile4367Asn)
c.13052T>A (p.Ile4351Asn)
c.13040T>A (p.Ile4347Asn)
c.12902T>A (p.Ile4301Asn)
c.12749T>A (p.Ile4250Asn)
Xg.53534578T>ACA413146304HUWE1c.12553A>T (p.Ile4185Phe)
c.12769A>T (p.Ile4257Phe)
c.3236A>T
n.82A>T
c.12742A>T (p.Ile4248Phe)
c.13018A>T (p.Ile4340Phe)
c.13015A>T (p.Ile4339Phe)
c.12973A>T (p.Ile4325Phe)
c.12970A>T (p.Ile4324Phe)
c.12967A>T (p.Ile4323Phe)
c.12919A>T (p.Ile4307Phe)
c.12616A>T (p.Ile4206Phe)
c.13150A>T (p.Ile4384Phe)
c.13147A>T (p.Ile4383Phe)
c.13129A>T (p.Ile4377Phe)
c.13105A>T (p.Ile4369Phe)
c.13102A>T (p.Ile4368Phe)
c.13099A>T (p.Ile4367Phe)
c.13051A>T (p.Ile4351Phe)
c.13039A>T (p.Ile4347Phe)
c.12901A>T (p.Ile4301Phe)
c.12748A>T (p.Ile4250Phe)
Xg.53534578T>CCA10421146HUWE1c.12553A>G (p.Ile4185Val)
c.12769A>G (p.Ile4257Val)
c.3236A>G
n.82A>G
c.12742A>G (p.Ile4248Val)
c.13018A>G (p.Ile4340Val)
c.13015A>G (p.Ile4339Val)
c.12973A>G (p.Ile4325Val)
c.12970A>G (p.Ile4324Val)
c.12967A>G (p.Ile4323Val)
c.12919A>G (p.Ile4307Val)
c.12616A>G (p.Ile4206Val)
c.13150A>G (p.Ile4384Val)
c.13147A>G (p.Ile4383Val)
c.13129A>G (p.Ile4377Val)
c.13105A>G (p.Ile4369Val)
c.13102A>G (p.Ile4368Val)
c.13099A>G (p.Ile4367Val)
c.13051A>G (p.Ile4351Val)
c.13039A>G (p.Ile4347Val)
c.12901A>G (p.Ile4301Val)
c.12748A>G (p.Ile4250Val)
 dbSNP ExAC gnomAD v2
Xg.53534578T>GCA413146301HUWE1c.12553A>C (p.Ile4185Leu)
c.12769A>C (p.Ile4257Leu)
c.3236A>C
n.82A>C
c.12742A>C (p.Ile4248Leu)
c.13018A>C (p.Ile4340Leu)
c.13015A>C (p.Ile4339Leu)
c.12973A>C (p.Ile4325Leu)
c.12970A>C (p.Ile4324Leu)
c.12967A>C (p.Ile4323Leu)
c.12919A>C (p.Ile4307Leu)
c.12616A>C (p.Ile4206Leu)
c.13150A>C (p.Ile4384Leu)
c.13147A>C (p.Ile4383Leu)
c.13129A>C (p.Ile4377Leu)
c.13105A>C (p.Ile4369Leu)
c.13102A>C (p.Ile4368Leu)
c.13099A>C (p.Ile4367Leu)
c.13051A>C (p.Ile4351Leu)
c.13039A>C (p.Ile4347Leu)
c.12901A>C (p.Ile4301Leu)
c.12748A>C (p.Ile4250Leu)
Xg.53534578T=CA2429869111HUWE1c.12553A= (p.Ile4185=)
c.12769A= (p.Ile4257=)
c.3236A=
n.82A=
c.12742A= (p.Ile4248=)
c.13018A= (p.Ile4340=)
c.13015A= (p.Ile4339=)
c.12973A= (p.Ile4325=)
c.12970A= (p.Ile4324=)
c.12967A= (p.Ile4323=)
c.12919A= (p.Ile4307=)
c.12616A= (p.Ile4206=)
c.13150A= (p.Ile4384=)
c.13147A= (p.Ile4383=)
c.13129A= (p.Ile4377=)
c.13105A= (p.Ile4369=)
c.13102A= (p.Ile4368=)
c.13099A= (p.Ile4367=)
c.13051A= (p.Ile4351=)
c.13039A= (p.Ile4347=)
c.12901A= (p.Ile4301=)
c.12748A= (p.Ile4250=)
Xg.53534579G>ACA516420459HUWE1c.12552C>T (p.Thr4184=)
c.12768C>T (p.Thr4256=)
c.3235C>T
n.81C>T
c.12741C>T (p.Thr4247=)
c.13017C>T (p.Thr4339=)
c.13014C>T (p.Thr4338=)
c.12972C>T (p.Thr4324=)
c.12969C>T (p.Thr4323=)
c.12966C>T (p.Thr4322=)
c.12918C>T (p.Thr4306=)
c.12615C>T (p.Thr4205=)
c.13149C>T (p.Thr4383=)
c.13146C>T (p.Thr4382=)
c.13128C>T (p.Thr4376=)
c.13104C>T (p.Thr4368=)
c.13101C>T (p.Thr4367=)
c.13098C>T (p.Thr4366=)
c.13050C>T (p.Thr4350=)
c.13038C>T (p.Thr4346=)
c.12900C>T (p.Thr4300=)
c.12747C>T (p.Thr4249=)
Xg.53534579G>CCA516420460HUWE1c.12552C>G (p.Thr4184=)
c.12768C>G (p.Thr4256=)
c.3235C>G
n.81C>G
c.12741C>G (p.Thr4247=)
c.13017C>G (p.Thr4339=)
c.13014C>G (p.Thr4338=)
c.12972C>G (p.Thr4324=)
c.12969C>G (p.Thr4323=)
c.12966C>G (p.Thr4322=)
c.12918C>G (p.Thr4306=)
c.12615C>G (p.Thr4205=)
c.13149C>G (p.Thr4383=)
c.13146C>G (p.Thr4382=)
c.13128C>G (p.Thr4376=)
c.13104C>G (p.Thr4368=)
c.13101C>G (p.Thr4367=)
c.13098C>G (p.Thr4366=)
c.13050C>G (p.Thr4350=)
c.13038C>G (p.Thr4346=)
c.12900C>G (p.Thr4300=)
c.12747C>G (p.Thr4249=)
Xg.53534579G>TCA516420463HUWE1c.12552C>A (p.Thr4184=)
c.12768C>A (p.Thr4256=)
c.3235C>A
n.81C>A
c.12741C>A (p.Thr4247=)
c.13017C>A (p.Thr4339=)
c.13014C>A (p.Thr4338=)
c.12972C>A (p.Thr4324=)
c.12969C>A (p.Thr4323=)
c.12966C>A (p.Thr4322=)
c.12918C>A (p.Thr4306=)
c.12615C>A (p.Thr4205=)
c.13149C>A (p.Thr4383=)
c.13146C>A (p.Thr4382=)
c.13128C>A (p.Thr4376=)
c.13104C>A (p.Thr4368=)
c.13101C>A (p.Thr4367=)
c.13098C>A (p.Thr4366=)
c.13050C>A (p.Thr4350=)
c.13038C>A (p.Thr4346=)
c.12900C>A (p.Thr4300=)
c.12747C>A (p.Thr4249=)
Xg.53534580G>ACA413146309HUWE1c.12551C>T (p.Thr4184Ile)
c.12767C>T (p.Thr4256Ile)
c.3234C>T
n.80C>T
c.12740C>T (p.Thr4247Ile)
c.13016C>T (p.Thr4339Ile)
c.13013C>T (p.Thr4338Ile)
c.12971C>T (p.Thr4324Ile)
c.12968C>T (p.Thr4323Ile)
c.12965C>T (p.Thr4322Ile)
c.12917C>T (p.Thr4306Ile)
c.12614C>T (p.Thr4205Ile)
c.13148C>T (p.Thr4383Ile)
c.13145C>T (p.Thr4382Ile)
c.13127C>T (p.Thr4376Ile)
c.13103C>T (p.Thr4368Ile)
c.13100C>T (p.Thr4367Ile)
c.13097C>T (p.Thr4366Ile)
c.13049C>T (p.Thr4350Ile)
c.13037C>T (p.Thr4346Ile)
c.12899C>T (p.Thr4300Ile)
c.12746C>T (p.Thr4249Ile)
Xg.53534580G>CCA413146312HUWE1c.12551C>G (p.Thr4184Ser)
c.12767C>G (p.Thr4256Ser)
c.3234C>G
n.80C>G
c.12740C>G (p.Thr4247Ser)
c.13016C>G (p.Thr4339Ser)
c.13013C>G (p.Thr4338Ser)
c.12971C>G (p.Thr4324Ser)
c.12968C>G (p.Thr4323Ser)
c.12965C>G (p.Thr4322Ser)
c.12917C>G (p.Thr4306Ser)
c.12614C>G (p.Thr4205Ser)
c.13148C>G (p.Thr4383Ser)
c.13145C>G (p.Thr4382Ser)
c.13127C>G (p.Thr4376Ser)
c.13103C>G (p.Thr4368Ser)
c.13100C>G (p.Thr4367Ser)
c.13097C>G (p.Thr4366Ser)
c.13049C>G (p.Thr4350Ser)
c.13037C>G (p.Thr4346Ser)
c.12899C>G (p.Thr4300Ser)
c.12746C>G (p.Thr4249Ser)
Xg.53534580G>TCA413146315HUWE1c.12551C>A (p.Thr4184Asn)
c.12767C>A (p.Thr4256Asn)
c.3234C>A
n.80C>A
c.12740C>A (p.Thr4247Asn)
c.13016C>A (p.Thr4339Asn)
c.13013C>A (p.Thr4338Asn)
c.12971C>A (p.Thr4324Asn)
c.12968C>A (p.Thr4323Asn)
c.12965C>A (p.Thr4322Asn)
c.12917C>A (p.Thr4306Asn)
c.12614C>A (p.Thr4205Asn)
c.13148C>A (p.Thr4383Asn)
c.13145C>A (p.Thr4382Asn)
c.13127C>A (p.Thr4376Asn)
c.13103C>A (p.Thr4368Asn)
c.13100C>A (p.Thr4367Asn)
c.13097C>A (p.Thr4366Asn)
c.13049C>A (p.Thr4350Asn)
c.13037C>A (p.Thr4346Asn)
c.12899C>A (p.Thr4300Asn)
c.12746C>A (p.Thr4249Asn)
Xg.53534581T>ACA413146319HUWE1c.12550A>T (p.Thr4184Ser)
c.12766A>T (p.Thr4256Ser)
c.3233A>T
n.79A>T
c.12739A>T (p.Thr4247Ser)
c.13015A>T (p.Thr4339Ser)
c.13012A>T (p.Thr4338Ser)
c.12970A>T (p.Thr4324Ser)
c.12967A>T (p.Thr4323Ser)
c.12964A>T (p.Thr4322Ser)
c.12916A>T (p.Thr4306Ser)
c.12613A>T (p.Thr4205Ser)
c.13147A>T (p.Thr4383Ser)
c.13144A>T (p.Thr4382Ser)
c.13126A>T (p.Thr4376Ser)
c.13102A>T (p.Thr4368Ser)
c.13099A>T (p.Thr4367Ser)
c.13096A>T (p.Thr4366Ser)
c.13048A>T (p.Thr4350Ser)
c.13036A>T (p.Thr4346Ser)
c.12898A>T (p.Thr4300Ser)
c.12745A>T (p.Thr4249Ser)
Xg.53534581T>CCA413146321HUWE1c.12550A>G (p.Thr4184Ala)
c.12766A>G (p.Thr4256Ala)
c.3233A>G
n.79A>G
c.12739A>G (p.Thr4247Ala)
c.13015A>G (p.Thr4339Ala)
c.13012A>G (p.Thr4338Ala)
c.12970A>G (p.Thr4324Ala)
c.12967A>G (p.Thr4323Ala)
c.12964A>G (p.Thr4322Ala)
c.12916A>G (p.Thr4306Ala)
c.12613A>G (p.Thr4205Ala)
c.13147A>G (p.Thr4383Ala)
c.13144A>G (p.Thr4382Ala)
c.13126A>G (p.Thr4376Ala)
c.13102A>G (p.Thr4368Ala)
c.13099A>G (p.Thr4367Ala)
c.13096A>G (p.Thr4366Ala)
c.13048A>G (p.Thr4350Ala)
c.13036A>G (p.Thr4346Ala)
c.12898A>G (p.Thr4300Ala)
c.12745A>G (p.Thr4249Ala)
Xg.53534581T>GCA413146324HUWE1c.12550A>C (p.Thr4184Pro)
c.12766A>C (p.Thr4256Pro)
c.3233A>C
n.79A>C
c.12739A>C (p.Thr4247Pro)
c.13015A>C (p.Thr4339Pro)
c.13012A>C (p.Thr4338Pro)
c.12970A>C (p.Thr4324Pro)
c.12967A>C (p.Thr4323Pro)
c.12964A>C (p.Thr4322Pro)
c.12916A>C (p.Thr4306Pro)
c.12613A>C (p.Thr4205Pro)
c.13147A>C (p.Thr4383Pro)
c.13144A>C (p.Thr4382Pro)
c.13126A>C (p.Thr4376Pro)
c.13102A>C (p.Thr4368Pro)
c.13099A>C (p.Thr4367Pro)
c.13096A>C (p.Thr4366Pro)
c.13048A>C (p.Thr4350Pro)
c.13036A>C (p.Thr4346Pro)
c.12898A>C (p.Thr4300Pro)
c.12745A>C (p.Thr4249Pro)
Xg.53534582G>ACA516420473HUWE1c.12549C>T (p.Pro4183=)
c.12765C>T (p.Pro4255=)
c.3232C>T
n.78C>T
c.12738C>T (p.Pro4246=)
c.13014C>T (p.Pro4338=)
c.13011C>T (p.Pro4337=)
c.12969C>T (p.Pro4323=)
c.12966C>T (p.Pro4322=)
c.12963C>T (p.Pro4321=)
c.12915C>T (p.Pro4305=)
c.12612C>T (p.Pro4204=)
c.13146C>T (p.Pro4382=)
c.13143C>T (p.Pro4381=)
c.13125C>T (p.Pro4375=)
c.13101C>T (p.Pro4367=)
c.13098C>T (p.Pro4366=)
c.13095C>T (p.Pro4365=)
c.13047C>T (p.Pro4349=)
c.13035C>T (p.Pro4345=)
c.12897C>T (p.Pro4299=)
c.12744C>T (p.Pro4248=)
Xg.53534582G>CCA516420474HUWE1c.12549C>G (p.Pro4183=)
c.12765C>G (p.Pro4255=)
c.3232C>G
n.78C>G
c.12738C>G (p.Pro4246=)
c.13014C>G (p.Pro4338=)
c.13011C>G (p.Pro4337=)
c.12969C>G (p.Pro4323=)
c.12966C>G (p.Pro4322=)
c.12963C>G (p.Pro4321=)
c.12915C>G (p.Pro4305=)
c.12612C>G (p.Pro4204=)
c.13146C>G (p.Pro4382=)
c.13143C>G (p.Pro4381=)
c.13125C>G (p.Pro4375=)
c.13101C>G (p.Pro4367=)
c.13098C>G (p.Pro4366=)
c.13095C>G (p.Pro4365=)
c.13047C>G (p.Pro4349=)
c.13035C>G (p.Pro4345=)
c.12897C>G (p.Pro4299=)
c.12744C>G (p.Pro4248=)
Xg.53534582G>TCA516420475HUWE1c.12549C>A (p.Pro4183=)
c.12765C>A (p.Pro4255=)
c.3232C>A
n.78C>A
c.12738C>A (p.Pro4246=)
c.13014C>A (p.Pro4338=)
c.13011C>A (p.Pro4337=)
c.12969C>A (p.Pro4323=)
c.12966C>A (p.Pro4322=)
c.12963C>A (p.Pro4321=)
c.12915C>A (p.Pro4305=)
c.12612C>A (p.Pro4204=)
c.13146C>A (p.Pro4382=)
c.13143C>A (p.Pro4381=)
c.13125C>A (p.Pro4375=)
c.13101C>A (p.Pro4367=)
c.13098C>A (p.Pro4366=)
c.13095C>A (p.Pro4365=)
c.13047C>A (p.Pro4349=)
c.13035C>A (p.Pro4345=)
c.12897C>A (p.Pro4299=)
c.12744C>A (p.Pro4248=)
Xg.53534583G>ACA413146328HUWE1c.12548C>T (p.Pro4183Leu)
c.12764C>T (p.Pro4255Leu)
c.3231C>T
n.77C>T
c.12737C>T (p.Pro4246Leu)
c.13013C>T (p.Pro4338Leu)
c.13010C>T (p.Pro4337Leu)
c.12968C>T (p.Pro4323Leu)
c.12965C>T (p.Pro4322Leu)
c.12962C>T (p.Pro4321Leu)
c.12914C>T (p.Pro4305Leu)
c.12611C>T (p.Pro4204Leu)
c.13145C>T (p.Pro4382Leu)
c.13142C>T (p.Pro4381Leu)
c.13124C>T (p.Pro4375Leu)
c.13100C>T (p.Pro4367Leu)
c.13097C>T (p.Pro4366Leu)
c.13094C>T (p.Pro4365Leu)
c.13046C>T (p.Pro4349Leu)
c.13034C>T (p.Pro4345Leu)
c.12896C>T (p.Pro4299Leu)
c.12743C>T (p.Pro4248Leu)
Xg.53534583G>CCA413146329HUWE1c.12548C>G (p.Pro4183Arg)
c.12764C>G (p.Pro4255Arg)
c.3231C>G
n.77C>G
c.12737C>G (p.Pro4246Arg)
c.13013C>G (p.Pro4338Arg)
c.13010C>G (p.Pro4337Arg)
c.12968C>G (p.Pro4323Arg)
c.12965C>G (p.Pro4322Arg)
c.12962C>G (p.Pro4321Arg)
c.12914C>G (p.Pro4305Arg)
c.12611C>G (p.Pro4204Arg)
c.13145C>G (p.Pro4382Arg)
c.13142C>G (p.Pro4381Arg)
c.13124C>G (p.Pro4375Arg)
c.13100C>G (p.Pro4367Arg)
c.13097C>G (p.Pro4366Arg)
c.13094C>G (p.Pro4365Arg)
c.13046C>G (p.Pro4349Arg)
c.13034C>G (p.Pro4345Arg)
c.12896C>G (p.Pro4299Arg)
c.12743C>G (p.Pro4248Arg)
Xg.53534583G>TCA413146331HUWE1c.12548C>A (p.Pro4183His)
c.12764C>A (p.Pro4255His)
c.3231C>A
n.77C>A
c.12737C>A (p.Pro4246His)
c.13013C>A (p.Pro4338His)
c.13010C>A (p.Pro4337His)
c.12968C>A (p.Pro4323His)
c.12965C>A (p.Pro4322His)
c.12962C>A (p.Pro4321His)
c.12914C>A (p.Pro4305His)
c.12611C>A (p.Pro4204His)
c.13145C>A (p.Pro4382His)
c.13142C>A (p.Pro4381His)
c.13124C>A (p.Pro4375His)
c.13100C>A (p.Pro4367His)
c.13097C>A (p.Pro4366His)
c.13094C>A (p.Pro4365His)
c.13046C>A (p.Pro4349His)
c.13034C>A (p.Pro4345His)
c.12896C>A (p.Pro4299His)
c.12743C>A (p.Pro4248His)
Xg.53534584G>ACA413146334HUWE1c.12547C>T (p.Pro4183Ser)
c.12763C>T (p.Pro4255Ser)
c.3230C>T
n.76C>T
c.12736C>T (p.Pro4246Ser)
c.13012C>T (p.Pro4338Ser)
c.13009C>T (p.Pro4337Ser)
c.12967C>T (p.Pro4323Ser)
c.12964C>T (p.Pro4322Ser)
c.12961C>T (p.Pro4321Ser)
c.12913C>T (p.Pro4305Ser)
c.12610C>T (p.Pro4204Ser)
c.13144C>T (p.Pro4382Ser)
c.13141C>T (p.Pro4381Ser)
c.13123C>T (p.Pro4375Ser)
c.13099C>T (p.Pro4367Ser)
c.13096C>T (p.Pro4366Ser)
c.13093C>T (p.Pro4365Ser)
c.13045C>T (p.Pro4349Ser)
c.13033C>T (p.Pro4345Ser)
c.12895C>T (p.Pro4299Ser)
c.12742C>T (p.Pro4248Ser)
Xg.53534584G>CCA413146336HUWE1c.12547C>G (p.Pro4183Ala)
c.12763C>G (p.Pro4255Ala)
c.3230C>G
n.76C>G
c.12736C>G (p.Pro4246Ala)
c.13012C>G (p.Pro4338Ala)
c.13009C>G (p.Pro4337Ala)
c.12967C>G (p.Pro4323Ala)
c.12964C>G (p.Pro4322Ala)
c.12961C>G (p.Pro4321Ala)
c.12913C>G (p.Pro4305Ala)
c.12610C>G (p.Pro4204Ala)
c.13144C>G (p.Pro4382Ala)
c.13141C>G (p.Pro4381Ala)
c.13123C>G (p.Pro4375Ala)
c.13099C>G (p.Pro4367Ala)
c.13096C>G (p.Pro4366Ala)
c.13093C>G (p.Pro4365Ala)
c.13045C>G (p.Pro4349Ala)
c.13033C>G (p.Pro4345Ala)
c.12895C>G (p.Pro4299Ala)
c.12742C>G (p.Pro4248Ala)
Xg.53534584G>TCA413146339HUWE1c.12547C>A (p.Pro4183Thr)
c.12763C>A (p.Pro4255Thr)
c.3230C>A
n.76C>A
c.12736C>A (p.Pro4246Thr)
c.13012C>A (p.Pro4338Thr)
c.13009C>A (p.Pro4337Thr)
c.12967C>A (p.Pro4323Thr)
c.12964C>A (p.Pro4322Thr)
c.12961C>A (p.Pro4321Thr)
c.12913C>A (p.Pro4305Thr)
c.12610C>A (p.Pro4204Thr)
c.13144C>A (p.Pro4382Thr)
c.13141C>A (p.Pro4381Thr)
c.13123C>A (p.Pro4375Thr)
c.13099C>A (p.Pro4367Thr)
c.13096C>A (p.Pro4366Thr)
c.13093C>A (p.Pro4365Thr)
c.13045C>A (p.Pro4349Thr)
c.13033C>A (p.Pro4345Thr)
c.12895C>A (p.Pro4299Thr)
c.12742C>A (p.Pro4248Thr)
Xg.53534585C>ACA516420486HUWE1c.12546G>T (p.Leu4182=)
c.12762G>T (p.Leu4254=)
c.3229G>T
n.75G>T
c.12735G>T (p.Leu4245=)
c.13011G>T (p.Leu4337=)
c.13008G>T (p.Leu4336=)
c.12966G>T (p.Leu4322=)
c.12963G>T (p.Leu4321=)
c.12960G>T (p.Leu4320=)
c.12912G>T (p.Leu4304=)
c.12609G>T (p.Leu4203=)
c.13143G>T (p.Leu4381=)
c.13140G>T (p.Leu4380=)
c.13122G>T (p.Leu4374=)
c.13098G>T (p.Leu4366=)
c.13095G>T (p.Leu4365=)
c.13092G>T (p.Leu4364=)
c.13044G>T (p.Leu4348=)
c.13032G>T (p.Leu4344=)
c.12894G>T (p.Leu4298=)
c.12741G>T (p.Leu4247=)
Xg.53534585C=CA2429869112HUWE1c.12546G= (p.Leu4182=)
c.12762G= (p.Leu4254=)
c.3229G=
n.75G=
c.12735G= (p.Leu4245=)
c.13011G= (p.Leu4337=)
c.13008G= (p.Leu4336=)
c.12966G= (p.Leu4322=)
c.12963G= (p.Leu4321=)
c.12960G= (p.Leu4320=)
c.12912G= (p.Leu4304=)
c.12609G= (p.Leu4203=)
c.13143G= (p.Leu4381=)
c.13140G= (p.Leu4380=)
c.13122G= (p.Leu4374=)
c.13098G= (p.Leu4366=)
c.13095G= (p.Leu4365=)
c.13092G= (p.Leu4364=)
c.13044G= (p.Leu4348=)
c.13032G= (p.Leu4344=)
c.12894G= (p.Leu4298=)
c.12741G= (p.Leu4247=)
Xg.53534585C>GCA516420488HUWE1c.12546G>C (p.Leu4182=)
c.12762G>C (p.Leu4254=)
c.3229G>C
n.75G>C
c.12735G>C (p.Leu4245=)
c.13011G>C (p.Leu4337=)
c.13008G>C (p.Leu4336=)
c.12966G>C (p.Leu4322=)
c.12963G>C (p.Leu4321=)
c.12960G>C (p.Leu4320=)
c.12912G>C (p.Leu4304=)
c.12609G>C (p.Leu4203=)
c.13143G>C (p.Leu4381=)
c.13140G>C (p.Leu4380=)
c.13122G>C (p.Leu4374=)
c.13098G>C (p.Leu4366=)
c.13095G>C (p.Leu4365=)
c.13092G>C (p.Leu4364=)
c.13044G>C (p.Leu4348=)
c.13032G>C (p.Leu4344=)
c.12894G>C (p.Leu4298=)
c.12741G>C (p.Leu4247=)
Xg.53534585C>TCA10421147HUWE1c.12546G>A (p.Leu4182=)
c.12762G>A (p.Leu4254=)
c.3229G>A
n.75G>A
c.12735G>A (p.Leu4245=)
c.13011G>A (p.Leu4337=)
c.13008G>A (p.Leu4336=)
c.12966G>A (p.Leu4322=)
c.12963G>A (p.Leu4321=)
c.12960G>A (p.Leu4320=)
c.12912G>A (p.Leu4304=)
c.12609G>A (p.Leu4203=)
c.13143G>A (p.Leu4381=)
c.13140G>A (p.Leu4380=)
c.13122G>A (p.Leu4374=)
c.13098G>A (p.Leu4366=)
c.13095G>A (p.Leu4365=)
c.13092G>A (p.Leu4364=)
c.13044G>A (p.Leu4348=)
c.13032G>A (p.Leu4344=)
c.12894G>A (p.Leu4298=)
c.12741G>A (p.Leu4247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534586A>CCA413146351HUWE1c.12545T>G (p.Leu4182Arg)
c.12761T>G (p.Leu4254Arg)
c.3228T>G
n.74T>G
c.12734T>G (p.Leu4245Arg)
c.13010T>G (p.Leu4337Arg)
c.13007T>G (p.Leu4336Arg)
c.12965T>G (p.Leu4322Arg)
c.12962T>G (p.Leu4321Arg)
c.12959T>G (p.Leu4320Arg)
c.12911T>G (p.Leu4304Arg)
c.12608T>G (p.Leu4203Arg)
c.13142T>G (p.Leu4381Arg)
c.13139T>G (p.Leu4380Arg)
c.13121T>G (p.Leu4374Arg)
c.13097T>G (p.Leu4366Arg)
c.13094T>G (p.Leu4365Arg)
c.13091T>G (p.Leu4364Arg)
c.13043T>G (p.Leu4348Arg)
c.13031T>G (p.Leu4344Arg)
c.12893T>G (p.Leu4298Arg)
c.12740T>G (p.Leu4247Arg)
Xg.53534586A>GCA413146349HUWE1c.12545T>C (p.Leu4182Pro)
c.12761T>C (p.Leu4254Pro)
c.3228T>C
n.74T>C
c.12734T>C (p.Leu4245Pro)
c.13010T>C (p.Leu4337Pro)
c.13007T>C (p.Leu4336Pro)
c.12965T>C (p.Leu4322Pro)
c.12962T>C (p.Leu4321Pro)
c.12959T>C (p.Leu4320Pro)
c.12911T>C (p.Leu4304Pro)
c.12608T>C (p.Leu4203Pro)
c.13142T>C (p.Leu4381Pro)
c.13139T>C (p.Leu4380Pro)
c.13121T>C (p.Leu4374Pro)
c.13097T>C (p.Leu4366Pro)
c.13094T>C (p.Leu4365Pro)
c.13091T>C (p.Leu4364Pro)
c.13043T>C (p.Leu4348Pro)
c.13031T>C (p.Leu4344Pro)
c.12893T>C (p.Leu4298Pro)
c.12740T>C (p.Leu4247Pro)
Xg.53534586A>TCA413146354HUWE1c.12545T>A (p.Leu4182Gln)
c.12761T>A (p.Leu4254Gln)
c.3228T>A
n.74T>A
c.12734T>A (p.Leu4245Gln)
c.13010T>A (p.Leu4337Gln)
c.13007T>A (p.Leu4336Gln)
c.12965T>A (p.Leu4322Gln)
c.12962T>A (p.Leu4321Gln)
c.12959T>A (p.Leu4320Gln)
c.12911T>A (p.Leu4304Gln)
c.12608T>A (p.Leu4203Gln)
c.13142T>A (p.Leu4381Gln)
c.13139T>A (p.Leu4380Gln)
c.13121T>A (p.Leu4374Gln)
c.13097T>A (p.Leu4366Gln)
c.13094T>A (p.Leu4365Gln)
c.13091T>A (p.Leu4364Gln)
c.13043T>A (p.Leu4348Gln)
c.13031T>A (p.Leu4344Gln)
c.12893T>A (p.Leu4298Gln)
c.12740T>A (p.Leu4247Gln)
Xg.53534587G>ACA516420495HUWE1c.12544C>T (p.Leu4182=)
c.12760C>T (p.Leu4254=)
c.3227C>T
n.73C>T
c.12733C>T (p.Leu4245=)
c.13009C>T (p.Leu4337=)
c.13006C>T (p.Leu4336=)
c.12964C>T (p.Leu4322=)
c.12961C>T (p.Leu4321=)
c.12958C>T (p.Leu4320=)
c.12910C>T (p.Leu4304=)
c.12607C>T (p.Leu4203=)
c.13141C>T (p.Leu4381=)
c.13138C>T (p.Leu4380=)
c.13120C>T (p.Leu4374=)
c.13096C>T (p.Leu4366=)
c.13093C>T (p.Leu4365=)
c.13090C>T (p.Leu4364=)
c.13042C>T (p.Leu4348=)
c.13030C>T (p.Leu4344=)
c.12892C>T (p.Leu4298=)
c.12739C>T (p.Leu4247=)
 gnomAD v4
Xg.53534587G>CCA413146358HUWE1c.12544C>G (p.Leu4182Val)
c.12760C>G (p.Leu4254Val)
c.3227C>G
n.73C>G
c.12733C>G (p.Leu4245Val)
c.13009C>G (p.Leu4337Val)
c.13006C>G (p.Leu4336Val)
c.12964C>G (p.Leu4322Val)
c.12961C>G (p.Leu4321Val)
c.12958C>G (p.Leu4320Val)
c.12910C>G (p.Leu4304Val)
c.12607C>G (p.Leu4203Val)
c.13141C>G (p.Leu4381Val)
c.13138C>G (p.Leu4380Val)
c.13120C>G (p.Leu4374Val)
c.13096C>G (p.Leu4366Val)
c.13093C>G (p.Leu4365Val)
c.13090C>G (p.Leu4364Val)
c.13042C>G (p.Leu4348Val)
c.13030C>G (p.Leu4344Val)
c.12892C>G (p.Leu4298Val)
c.12739C>G (p.Leu4247Val)
Xg.53534587G>TCA413146360HUWE1c.12544C>A (p.Leu4182Met)
c.12760C>A (p.Leu4254Met)
c.3227C>A
n.73C>A
c.12733C>A (p.Leu4245Met)
c.13009C>A (p.Leu4337Met)
c.13006C>A (p.Leu4336Met)
c.12964C>A (p.Leu4322Met)
c.12961C>A (p.Leu4321Met)
c.12958C>A (p.Leu4320Met)
c.12910C>A (p.Leu4304Met)
c.12607C>A (p.Leu4203Met)
c.13141C>A (p.Leu4381Met)
c.13138C>A (p.Leu4380Met)
c.13120C>A (p.Leu4374Met)
c.13096C>A (p.Leu4366Met)
c.13093C>A (p.Leu4365Met)
c.13090C>A (p.Leu4364Met)
c.13042C>A (p.Leu4348Met)
c.13030C>A (p.Leu4344Met)
c.12892C>A (p.Leu4298Met)
c.12739C>A (p.Leu4247Met)
Xg.53534588T>ACA516420499HUWE1c.12543A>T (p.Gly4181=)
c.12759A>T (p.Gly4253=)
c.3226A>T
n.72A>T
c.12732A>T (p.Gly4244=)
c.13008A>T (p.Gly4336=)
c.13005A>T (p.Gly4335=)
c.12963A>T (p.Gly4321=)
c.12960A>T (p.Gly4320=)
c.12957A>T (p.Gly4319=)
c.12909A>T (p.Gly4303=)
c.12606A>T (p.Gly4202=)
c.13140A>T (p.Gly4380=)
c.13137A>T (p.Gly4379=)
c.13119A>T (p.Gly4373=)
c.13095A>T (p.Gly4365=)
c.13092A>T (p.Gly4364=)
c.13089A>T (p.Gly4363=)
c.13041A>T (p.Gly4347=)
c.13029A>T (p.Gly4343=)
c.12891A>T (p.Gly4297=)
c.12738A>T (p.Gly4246=)
Xg.53534588T>CCA516420501HUWE1c.12543A>G (p.Gly4181=)
c.12759A>G (p.Gly4253=)
c.3226A>G
n.72A>G
c.12732A>G (p.Gly4244=)
c.13008A>G (p.Gly4336=)
c.13005A>G (p.Gly4335=)
c.12963A>G (p.Gly4321=)
c.12960A>G (p.Gly4320=)
c.12957A>G (p.Gly4319=)
c.12909A>G (p.Gly4303=)
c.12606A>G (p.Gly4202=)
c.13140A>G (p.Gly4380=)
c.13137A>G (p.Gly4379=)
c.13119A>G (p.Gly4373=)
c.13095A>G (p.Gly4365=)
c.13092A>G (p.Gly4364=)
c.13089A>G (p.Gly4363=)
c.13041A>G (p.Gly4347=)
c.13029A>G (p.Gly4343=)
c.12891A>G (p.Gly4297=)
c.12738A>G (p.Gly4246=)
Xg.53534588T>GCA516420504HUWE1c.12543A>C (p.Gly4181=)
c.12759A>C (p.Gly4253=)
c.3226A>C
n.72A>C
c.12732A>C (p.Gly4244=)
c.13008A>C (p.Gly4336=)
c.13005A>C (p.Gly4335=)
c.12963A>C (p.Gly4321=)
c.12960A>C (p.Gly4320=)
c.12957A>C (p.Gly4319=)
c.12909A>C (p.Gly4303=)
c.12606A>C (p.Gly4202=)
c.13140A>C (p.Gly4380=)
c.13137A>C (p.Gly4379=)
c.13119A>C (p.Gly4373=)
c.13095A>C (p.Gly4365=)
c.13092A>C (p.Gly4364=)
c.13089A>C (p.Gly4363=)
c.13041A>C (p.Gly4347=)
c.13029A>C (p.Gly4343=)
c.12891A>C (p.Gly4297=)
c.12738A>C (p.Gly4246=)
Xg.53534589C>ACA413146364HUWE1c.12542G>T (p.Gly4181Val)
c.12758G>T (p.Gly4253Val)
c.3225G>T
n.71G>T
c.12731G>T (p.Gly4244Val)
c.13007G>T (p.Gly4336Val)
c.13004G>T (p.Gly4335Val)
c.12962G>T (p.Gly4321Val)
c.12959G>T (p.Gly4320Val)
c.12956G>T (p.Gly4319Val)
c.12908G>T (p.Gly4303Val)
c.12605G>T (p.Gly4202Val)
c.13139G>T (p.Gly4380Val)
c.13136G>T (p.Gly4379Val)
c.13118G>T (p.Gly4373Val)
c.13094G>T (p.Gly4365Val)
c.13091G>T (p.Gly4364Val)
c.13088G>T (p.Gly4363Val)
c.13040G>T (p.Gly4347Val)
c.13028G>T (p.Gly4343Val)
c.12890G>T (p.Gly4297Val)
c.12737G>T (p.Gly4246Val)
Xg.53534589C>GCA413146371HUWE1c.12542G>C (p.Gly4181Ala)
c.12758G>C (p.Gly4253Ala)
c.3225G>C
n.71G>C
c.12731G>C (p.Gly4244Ala)
c.13007G>C (p.Gly4336Ala)
c.13004G>C (p.Gly4335Ala)
c.12962G>C (p.Gly4321Ala)
c.12959G>C (p.Gly4320Ala)
c.12956G>C (p.Gly4319Ala)
c.12908G>C (p.Gly4303Ala)
c.12605G>C (p.Gly4202Ala)
c.13139G>C (p.Gly4380Ala)
c.13136G>C (p.Gly4379Ala)
c.13118G>C (p.Gly4373Ala)
c.13094G>C (p.Gly4365Ala)
c.13091G>C (p.Gly4364Ala)
c.13088G>C (p.Gly4363Ala)
c.13040G>C (p.Gly4347Ala)
c.13028G>C (p.Gly4343Ala)
c.12890G>C (p.Gly4297Ala)
c.12737G>C (p.Gly4246Ala)
Xg.53534589C>TCA413146368HUWE1c.12542G>A (p.Gly4181Glu)
c.12758G>A (p.Gly4253Glu)
c.3225G>A
n.71G>A
c.12731G>A (p.Gly4244Glu)
c.13007G>A (p.Gly4336Glu)
c.13004G>A (p.Gly4335Glu)
c.12962G>A (p.Gly4321Glu)
c.12959G>A (p.Gly4320Glu)
c.12956G>A (p.Gly4319Glu)
c.12908G>A (p.Gly4303Glu)
c.12605G>A (p.Gly4202Glu)
c.13139G>A (p.Gly4380Glu)
c.13136G>A (p.Gly4379Glu)
c.13118G>A (p.Gly4373Glu)
c.13094G>A (p.Gly4365Glu)
c.13091G>A (p.Gly4364Glu)
c.13088G>A (p.Gly4363Glu)
c.13040G>A (p.Gly4347Glu)
c.13028G>A (p.Gly4343Glu)
c.12890G>A (p.Gly4297Glu)
c.12737G>A (p.Gly4246Glu)
Xg.53534590C>ACA413146375HUWE1c.12541G>T (p.Gly4181Ter)
c.12757G>T (p.Gly4253Ter)
c.3224G>T
n.70G>T
c.12730G>T (p.Gly4244Ter)
c.13006G>T (p.Gly4336Ter)
c.13003G>T (p.Gly4335Ter)
c.12961G>T (p.Gly4321Ter)
c.12958G>T (p.Gly4320Ter)
c.12955G>T (p.Gly4319Ter)
c.12907G>T (p.Gly4303Ter)
c.12604G>T (p.Gly4202Ter)
c.13138G>T (p.Gly4380Ter)
c.13135G>T (p.Gly4379Ter)
c.13117G>T (p.Gly4373Ter)
c.13093G>T (p.Gly4365Ter)
c.13090G>T (p.Gly4364Ter)
c.13087G>T (p.Gly4363Ter)
c.13039G>T (p.Gly4347Ter)
c.13027G>T (p.Gly4343Ter)
c.12889G>T (p.Gly4297Ter)
c.12736G>T (p.Gly4246Ter)
Xg.53534590C>GCA413146377HUWE1c.12541G>C (p.Gly4181Arg)
c.12757G>C (p.Gly4253Arg)
c.3224G>C
n.70G>C
c.12730G>C (p.Gly4244Arg)
c.13006G>C (p.Gly4336Arg)
c.13003G>C (p.Gly4335Arg)
c.12961G>C (p.Gly4321Arg)
c.12958G>C (p.Gly4320Arg)
c.12955G>C (p.Gly4319Arg)
c.12907G>C (p.Gly4303Arg)
c.12604G>C (p.Gly4202Arg)
c.13138G>C (p.Gly4380Arg)
c.13135G>C (p.Gly4379Arg)
c.13117G>C (p.Gly4373Arg)
c.13093G>C (p.Gly4365Arg)
c.13090G>C (p.Gly4364Arg)
c.13087G>C (p.Gly4363Arg)
c.13039G>C (p.Gly4347Arg)
c.13027G>C (p.Gly4343Arg)
c.12889G>C (p.Gly4297Arg)
c.12736G>C (p.Gly4246Arg)
Xg.53534590C>TCA413146380HUWE1c.12541G>A (p.Gly4181Arg)
c.12757G>A (p.Gly4253Arg)
c.3224G>A
n.70G>A
c.12730G>A (p.Gly4244Arg)
c.13006G>A (p.Gly4336Arg)
c.13003G>A (p.Gly4335Arg)
c.12961G>A (p.Gly4321Arg)
c.12958G>A (p.Gly4320Arg)
c.12955G>A (p.Gly4319Arg)
c.12907G>A (p.Gly4303Arg)
c.12604G>A (p.Gly4202Arg)
c.13138G>A (p.Gly4380Arg)
c.13135G>A (p.Gly4379Arg)
c.13117G>A (p.Gly4373Arg)
c.13093G>A (p.Gly4365Arg)
c.13090G>A (p.Gly4364Arg)
c.13087G>A (p.Gly4363Arg)
c.13039G>A (p.Gly4347Arg)
c.13027G>A (p.Gly4343Arg)
c.12889G>A (p.Gly4297Arg)
c.12736G>A (p.Gly4246Arg)
Xg.53534591T>ACA516420513HUWE1c.12540A>T (p.Ser4180=)
c.12756A>T (p.Ser4252=)
c.3223A>T
n.69A>T
c.12729A>T (p.Ser4243=)
c.13005A>T (p.Ser4335=)
c.13002A>T (p.Ser4334=)
c.12960A>T (p.Ser4320=)
c.12957A>T (p.Ser4319=)
c.12954A>T (p.Ser4318=)
c.12906A>T (p.Ser4302=)
c.12603A>T (p.Ser4201=)
c.13137A>T (p.Ser4379=)
c.13134A>T (p.Ser4378=)
c.13116A>T (p.Ser4372=)
c.13092A>T (p.Ser4364=)
c.13089A>T (p.Ser4363=)
c.13086A>T (p.Ser4362=)
c.13038A>T (p.Ser4346=)
c.13026A>T (p.Ser4342=)
c.12888A>T (p.Ser4296=)
c.12735A>T (p.Ser4245=)
Xg.53534591T>CCA516420515HUWE1c.12540A>G (p.Ser4180=)
c.12756A>G (p.Ser4252=)
c.3223A>G
n.69A>G
c.12729A>G (p.Ser4243=)
c.13005A>G (p.Ser4335=)
c.13002A>G (p.Ser4334=)
c.12960A>G (p.Ser4320=)
c.12957A>G (p.Ser4319=)
c.12954A>G (p.Ser4318=)
c.12906A>G (p.Ser4302=)
c.12603A>G (p.Ser4201=)
c.13137A>G (p.Ser4379=)
c.13134A>G (p.Ser4378=)
c.13116A>G (p.Ser4372=)
c.13092A>G (p.Ser4364=)
c.13089A>G (p.Ser4363=)
c.13086A>G (p.Ser4362=)
c.13038A>G (p.Ser4346=)
c.13026A>G (p.Ser4342=)
c.12888A>G (p.Ser4296=)
c.12735A>G (p.Ser4245=)
Xg.53534591T>GCA516420517HUWE1c.12540A>C (p.Ser4180=)
c.12756A>C (p.Ser4252=)
c.3223A>C
n.69A>C
c.12729A>C (p.Ser4243=)
c.13005A>C (p.Ser4335=)
c.13002A>C (p.Ser4334=)
c.12960A>C (p.Ser4320=)
c.12957A>C (p.Ser4319=)
c.12954A>C (p.Ser4318=)
c.12906A>C (p.Ser4302=)
c.12603A>C (p.Ser4201=)
c.13137A>C (p.Ser4379=)
c.13134A>C (p.Ser4378=)
c.13116A>C (p.Ser4372=)
c.13092A>C (p.Ser4364=)
c.13089A>C (p.Ser4363=)
c.13086A>C (p.Ser4362=)
c.13038A>C (p.Ser4346=)
c.13026A>C (p.Ser4342=)
c.12888A>C (p.Ser4296=)
c.12735A>C (p.Ser4245=)
Xg.53534592G>ACA413146383HUWE1c.12539C>T (p.Ser4180Leu)
c.12755C>T (p.Ser4252Leu)
c.3222C>T
n.68C>T
c.12728C>T (p.Ser4243Leu)
c.13004C>T (p.Ser4335Leu)
c.13001C>T (p.Ser4334Leu)
c.12959C>T (p.Ser4320Leu)
c.12956C>T (p.Ser4319Leu)
c.12953C>T (p.Ser4318Leu)
c.12905C>T (p.Ser4302Leu)
c.12602C>T (p.Ser4201Leu)
c.13136C>T (p.Ser4379Leu)
c.13133C>T (p.Ser4378Leu)
c.13115C>T (p.Ser4372Leu)
c.13091C>T (p.Ser4364Leu)
c.13088C>T (p.Ser4363Leu)
c.13085C>T (p.Ser4362Leu)
c.13037C>T (p.Ser4346Leu)
c.13025C>T (p.Ser4342Leu)
c.12887C>T (p.Ser4296Leu)
c.12734C>T (p.Ser4245Leu)
Xg.53534592G>CCA413146386HUWE1c.12539C>G (p.Ser4180Ter)
c.12755C>G (p.Ser4252Ter)
c.3222C>G
n.68C>G
c.12728C>G (p.Ser4243Ter)
c.13004C>G (p.Ser4335Ter)
c.13001C>G (p.Ser4334Ter)
c.12959C>G (p.Ser4320Ter)
c.12956C>G (p.Ser4319Ter)
c.12953C>G (p.Ser4318Ter)
c.12905C>G (p.Ser4302Ter)
c.12602C>G (p.Ser4201Ter)
c.13136C>G (p.Ser4379Ter)
c.13133C>G (p.Ser4378Ter)
c.13115C>G (p.Ser4372Ter)
c.13091C>G (p.Ser4364Ter)
c.13088C>G (p.Ser4363Ter)
c.13085C>G (p.Ser4362Ter)
c.13037C>G (p.Ser4346Ter)
c.13025C>G (p.Ser4342Ter)
c.12887C>G (p.Ser4296Ter)
c.12734C>G (p.Ser4245Ter)
Xg.53534592G>TCA413146388HUWE1c.12539C>A (p.Ser4180Ter)
c.12755C>A (p.Ser4252Ter)
c.3222C>A
n.68C>A
c.12728C>A (p.Ser4243Ter)
c.13004C>A (p.Ser4335Ter)
c.13001C>A (p.Ser4334Ter)
c.12959C>A (p.Ser4320Ter)
c.12956C>A (p.Ser4319Ter)
c.12953C>A (p.Ser4318Ter)
c.12905C>A (p.Ser4302Ter)
c.12602C>A (p.Ser4201Ter)
c.13136C>A (p.Ser4379Ter)
c.13133C>A (p.Ser4378Ter)
c.13115C>A (p.Ser4372Ter)
c.13091C>A (p.Ser4364Ter)
c.13088C>A (p.Ser4363Ter)
c.13085C>A (p.Ser4362Ter)
c.13037C>A (p.Ser4346Ter)
c.13025C>A (p.Ser4342Ter)
c.12887C>A (p.Ser4296Ter)
c.12734C>A (p.Ser4245Ter)
Xg.53534593A>CCA413146393HUWE1c.12538T>G (p.Ser4180Ala)
c.12754T>G (p.Ser4252Ala)
c.3221T>G
n.67T>G
c.12727T>G (p.Ser4243Ala)
c.13003T>G (p.Ser4335Ala)
c.13000T>G (p.Ser4334Ala)
c.12958T>G (p.Ser4320Ala)
c.12955T>G (p.Ser4319Ala)
c.12952T>G (p.Ser4318Ala)
c.12904T>G (p.Ser4302Ala)
c.12601T>G (p.Ser4201Ala)
c.13135T>G (p.Ser4379Ala)
c.13132T>G (p.Ser4378Ala)
c.13114T>G (p.Ser4372Ala)
c.13090T>G (p.Ser4364Ala)
c.13087T>G (p.Ser4363Ala)
c.13084T>G (p.Ser4362Ala)
c.13036T>G (p.Ser4346Ala)
c.13024T>G (p.Ser4342Ala)
c.12886T>G (p.Ser4296Ala)
c.12733T>G (p.Ser4245Ala)
Xg.53534593A>GCA413146397HUWE1c.12538T>C (p.Ser4180Pro)
c.12754T>C (p.Ser4252Pro)
c.3221T>C
n.67T>C
c.12727T>C (p.Ser4243Pro)
c.13003T>C (p.Ser4335Pro)
c.13000T>C (p.Ser4334Pro)
c.12958T>C (p.Ser4320Pro)
c.12955T>C (p.Ser4319Pro)
c.12952T>C (p.Ser4318Pro)
c.12904T>C (p.Ser4302Pro)
c.12601T>C (p.Ser4201Pro)
c.13135T>C (p.Ser4379Pro)
c.13132T>C (p.Ser4378Pro)
c.13114T>C (p.Ser4372Pro)
c.13090T>C (p.Ser4364Pro)
c.13087T>C (p.Ser4363Pro)
c.13084T>C (p.Ser4362Pro)
c.13036T>C (p.Ser4346Pro)
c.13024T>C (p.Ser4342Pro)
c.12886T>C (p.Ser4296Pro)
c.12733T>C (p.Ser4245Pro)
Xg.53534593A>TCA413146398HUWE1c.12538T>A (p.Ser4180Thr)
c.12754T>A (p.Ser4252Thr)
c.3221T>A
n.67T>A
c.12727T>A (p.Ser4243Thr)
c.13003T>A (p.Ser4335Thr)
c.13000T>A (p.Ser4334Thr)
c.12958T>A (p.Ser4320Thr)
c.12955T>A (p.Ser4319Thr)
c.12952T>A (p.Ser4318Thr)
c.12904T>A (p.Ser4302Thr)
c.12601T>A (p.Ser4201Thr)
c.13135T>A (p.Ser4379Thr)
c.13132T>A (p.Ser4378Thr)
c.13114T>A (p.Ser4372Thr)
c.13090T>A (p.Ser4364Thr)
c.13087T>A (p.Ser4363Thr)
c.13084T>A (p.Ser4362Thr)
c.13036T>A (p.Ser4346Thr)
c.13024T>A (p.Ser4342Thr)
c.12886T>A (p.Ser4296Thr)
c.12733T>A (p.Ser4245Thr)
Xg.53534594T>ACA516420525HUWE1c.12537A>T (p.Ile4179=)
c.12753A>T (p.Ile4251=)
c.3220A>T
n.66A>T
c.12726A>T (p.Ile4242=)
c.13002A>T (p.Ile4334=)
c.12999A>T (p.Ile4333=)
c.12957A>T (p.Ile4319=)
c.12954A>T (p.Ile4318=)
c.12951A>T (p.Ile4317=)
c.12903A>T (p.Ile4301=)
c.12600A>T (p.Ile4200=)
c.13134A>T (p.Ile4378=)
c.13131A>T (p.Ile4377=)
c.13113A>T (p.Ile4371=)
c.13089A>T (p.Ile4363=)
c.13086A>T (p.Ile4362=)
c.13083A>T (p.Ile4361=)
c.13035A>T (p.Ile4345=)
c.13023A>T (p.Ile4341=)
c.12885A>T (p.Ile4295=)
c.12732A>T (p.Ile4244=)
Xg.53534594T>CCA413146401HUWE1c.12537A>G (p.Ile4179Met)
c.12753A>G (p.Ile4251Met)
c.3220A>G
n.66A>G
c.12726A>G (p.Ile4242Met)
c.13002A>G (p.Ile4334Met)
c.12999A>G (p.Ile4333Met)
c.12957A>G (p.Ile4319Met)
c.12954A>G (p.Ile4318Met)
c.12951A>G (p.Ile4317Met)
c.12903A>G (p.Ile4301Met)
c.12600A>G (p.Ile4200Met)
c.13134A>G (p.Ile4378Met)
c.13131A>G (p.Ile4377Met)
c.13113A>G (p.Ile4371Met)
c.13089A>G (p.Ile4363Met)
c.13086A>G (p.Ile4362Met)
c.13083A>G (p.Ile4361Met)
c.13035A>G (p.Ile4345Met)
c.13023A>G (p.Ile4341Met)
c.12885A>G (p.Ile4295Met)
c.12732A>G (p.Ile4244Met)
Xg.53534594T>GCA516420530HUWE1c.12537A>C (p.Ile4179=)
c.12753A>C (p.Ile4251=)
c.3220A>C
n.66A>C
c.12726A>C (p.Ile4242=)
c.13002A>C (p.Ile4334=)
c.12999A>C (p.Ile4333=)
c.12957A>C (p.Ile4319=)
c.12954A>C (p.Ile4318=)
c.12951A>C (p.Ile4317=)
c.12903A>C (p.Ile4301=)
c.12600A>C (p.Ile4200=)
c.13134A>C (p.Ile4378=)
c.13131A>C (p.Ile4377=)
c.13113A>C (p.Ile4371=)
c.13089A>C (p.Ile4363=)
c.13086A>C (p.Ile4362=)
c.13083A>C (p.Ile4361=)
c.13035A>C (p.Ile4345=)
c.13023A>C (p.Ile4341=)
c.12885A>C (p.Ile4295=)
c.12732A>C (p.Ile4244=)
Xg.53534595A>CCA413146406HUWE1c.12536T>G (p.Ile4179Arg)
c.12752T>G (p.Ile4251Arg)
c.3219T>G
n.65T>G
c.12725T>G (p.Ile4242Arg)
c.13001T>G (p.Ile4334Arg)
c.12998T>G (p.Ile4333Arg)
c.12956T>G (p.Ile4319Arg)
c.12953T>G (p.Ile4318Arg)
c.12950T>G (p.Ile4317Arg)
c.12902T>G (p.Ile4301Arg)
c.12599T>G (p.Ile4200Arg)
c.13133T>G (p.Ile4378Arg)
c.13130T>G (p.Ile4377Arg)
c.13112T>G (p.Ile4371Arg)
c.13088T>G (p.Ile4363Arg)
c.13085T>G (p.Ile4362Arg)
c.13082T>G (p.Ile4361Arg)
c.13034T>G (p.Ile4345Arg)
c.13022T>G (p.Ile4341Arg)
c.12884T>G (p.Ile4295Arg)
c.12731T>G (p.Ile4244Arg)
Xg.53534595A>GCA413146409HUWE1c.12536T>C (p.Ile4179Thr)
c.12752T>C (p.Ile4251Thr)
c.3219T>C
n.65T>C
c.12725T>C (p.Ile4242Thr)
c.13001T>C (p.Ile4334Thr)
c.12998T>C (p.Ile4333Thr)
c.12956T>C (p.Ile4319Thr)
c.12953T>C (p.Ile4318Thr)
c.12950T>C (p.Ile4317Thr)
c.12902T>C (p.Ile4301Thr)
c.12599T>C (p.Ile4200Thr)
c.13133T>C (p.Ile4378Thr)
c.13130T>C (p.Ile4377Thr)
c.13112T>C (p.Ile4371Thr)
c.13088T>C (p.Ile4363Thr)
c.13085T>C (p.Ile4362Thr)
c.13082T>C (p.Ile4361Thr)
c.13034T>C (p.Ile4345Thr)
c.13022T>C (p.Ile4341Thr)
c.12884T>C (p.Ile4295Thr)
c.12731T>C (p.Ile4244Thr)
Xg.53534595A>TCA413146420HUWE1c.12536T>A (p.Ile4179Lys)
c.12752T>A (p.Ile4251Lys)
c.3219T>A
n.65T>A
c.12725T>A (p.Ile4242Lys)
c.13001T>A (p.Ile4334Lys)
c.12998T>A (p.Ile4333Lys)
c.12956T>A (p.Ile4319Lys)
c.12953T>A (p.Ile4318Lys)
c.12950T>A (p.Ile4317Lys)
c.12902T>A (p.Ile4301Lys)
c.12599T>A (p.Ile4200Lys)
c.13133T>A (p.Ile4378Lys)
c.13130T>A (p.Ile4377Lys)
c.13112T>A (p.Ile4371Lys)
c.13088T>A (p.Ile4363Lys)
c.13085T>A (p.Ile4362Lys)
c.13082T>A (p.Ile4361Lys)
c.13034T>A (p.Ile4345Lys)
c.13022T>A (p.Ile4341Lys)
c.12884T>A (p.Ile4295Lys)
c.12731T>A (p.Ile4244Lys)
Xg.53534596T>ACA413146426HUWE1c.12535A>T (p.Ile4179Leu)
c.12751A>T (p.Ile4251Leu)
c.3218A>T
n.64A>T
c.12724A>T (p.Ile4242Leu)
c.13000A>T (p.Ile4334Leu)
c.12997A>T (p.Ile4333Leu)
c.12955A>T (p.Ile4319Leu)
c.12952A>T (p.Ile4318Leu)
c.12949A>T (p.Ile4317Leu)
c.12901A>T (p.Ile4301Leu)
c.12598A>T (p.Ile4200Leu)
c.13132A>T (p.Ile4378Leu)
c.13129A>T (p.Ile4377Leu)
c.13111A>T (p.Ile4371Leu)
c.13087A>T (p.Ile4363Leu)
c.13084A>T (p.Ile4362Leu)
c.13081A>T (p.Ile4361Leu)
c.13033A>T (p.Ile4345Leu)
c.13021A>T (p.Ile4341Leu)
c.12883A>T (p.Ile4295Leu)
c.12730A>T (p.Ile4244Leu)
Xg.53534596T>CCA413146429HUWE1c.12535A>G (p.Ile4179Val)
c.12751A>G (p.Ile4251Val)
c.3218A>G
n.64A>G
c.12724A>G (p.Ile4242Val)
c.13000A>G (p.Ile4334Val)
c.12997A>G (p.Ile4333Val)
c.12955A>G (p.Ile4319Val)
c.12952A>G (p.Ile4318Val)
c.12949A>G (p.Ile4317Val)
c.12901A>G (p.Ile4301Val)
c.12598A>G (p.Ile4200Val)
c.13132A>G (p.Ile4378Val)
c.13129A>G (p.Ile4377Val)
c.13111A>G (p.Ile4371Val)
c.13087A>G (p.Ile4363Val)
c.13084A>G (p.Ile4362Val)
c.13081A>G (p.Ile4361Val)
c.13033A>G (p.Ile4345Val)
c.13021A>G (p.Ile4341Val)
c.12883A>G (p.Ile4295Val)
c.12730A>G (p.Ile4244Val)
Xg.53534596T>GCA413146428HUWE1c.12535A>C (p.Ile4179Leu)
c.12751A>C (p.Ile4251Leu)
c.3218A>C
n.64A>C
c.12724A>C (p.Ile4242Leu)
c.13000A>C (p.Ile4334Leu)
c.12997A>C (p.Ile4333Leu)
c.12955A>C (p.Ile4319Leu)
c.12952A>C (p.Ile4318Leu)
c.12949A>C (p.Ile4317Leu)
c.12901A>C (p.Ile4301Leu)
c.12598A>C (p.Ile4200Leu)
c.13132A>C (p.Ile4378Leu)
c.13129A>C (p.Ile4377Leu)
c.13111A>C (p.Ile4371Leu)
c.13087A>C (p.Ile4363Leu)
c.13084A>C (p.Ile4362Leu)
c.13081A>C (p.Ile4361Leu)
c.13033A>C (p.Ile4345Leu)
c.13021A>C (p.Ile4341Leu)
c.12883A>C (p.Ile4295Leu)
c.12730A>C (p.Ile4244Leu)
Xg.53534597A>CCA516420537HUWE1c.12534T>G (p.Leu4178=)
c.12750T>G (p.Leu4250=)
c.3217T>G
n.63T>G
c.12723T>G (p.Leu4241=)
c.12999T>G (p.Leu4333=)
c.12996T>G (p.Leu4332=)
c.12954T>G (p.Leu4318=)
c.12951T>G (p.Leu4317=)
c.12948T>G (p.Leu4316=)
c.12900T>G (p.Leu4300=)
c.12597T>G (p.Leu4199=)
c.13131T>G (p.Leu4377=)
c.13128T>G (p.Leu4376=)
c.13110T>G (p.Leu4370=)
c.13086T>G (p.Leu4362=)
c.13083T>G (p.Leu4361=)
c.13080T>G (p.Leu4360=)
c.13032T>G (p.Leu4344=)
c.13020T>G (p.Leu4340=)
c.12882T>G (p.Leu4294=)
c.12729T>G (p.Leu4243=)
Xg.53534597A>GCA516420538HUWE1c.12534T>C (p.Leu4178=)
c.12750T>C (p.Leu4250=)
c.3217T>C
n.63T>C
c.12723T>C (p.Leu4241=)
c.12999T>C (p.Leu4333=)
c.12996T>C (p.Leu4332=)
c.12954T>C (p.Leu4318=)
c.12951T>C (p.Leu4317=)
c.12948T>C (p.Leu4316=)
c.12900T>C (p.Leu4300=)
c.12597T>C (p.Leu4199=)
c.13131T>C (p.Leu4377=)
c.13128T>C (p.Leu4376=)
c.13110T>C (p.Leu4370=)
c.13086T>C (p.Leu4362=)
c.13083T>C (p.Leu4361=)
c.13080T>C (p.Leu4360=)
c.13032T>C (p.Leu4344=)
c.13020T>C (p.Leu4340=)
c.12882T>C (p.Leu4294=)
c.12729T>C (p.Leu4243=)
Xg.53534597A>TCA516420539HUWE1c.12534T>A (p.Leu4178=)
c.12750T>A (p.Leu4250=)
c.3217T>A
n.63T>A
c.12723T>A (p.Leu4241=)
c.12999T>A (p.Leu4333=)
c.12996T>A (p.Leu4332=)
c.12954T>A (p.Leu4318=)
c.12951T>A (p.Leu4317=)
c.12948T>A (p.Leu4316=)
c.12900T>A (p.Leu4300=)
c.12597T>A (p.Leu4199=)
c.13131T>A (p.Leu4377=)
c.13128T>A (p.Leu4376=)
c.13110T>A (p.Leu4370=)
c.13086T>A (p.Leu4362=)
c.13083T>A (p.Leu4361=)
c.13080T>A (p.Leu4360=)
c.13032T>A (p.Leu4344=)
c.13020T>A (p.Leu4340=)
c.12882T>A (p.Leu4294=)
c.12729T>A (p.Leu4243=)
Xg.53534598A>CCA413146432HUWE1c.12533T>G (p.Leu4178Arg)
c.12749T>G (p.Leu4250Arg)
c.3216T>G
n.62T>G
c.12722T>G (p.Leu4241Arg)
c.12998T>G (p.Leu4333Arg)
c.12995T>G (p.Leu4332Arg)
c.12953T>G (p.Leu4318Arg)
c.12950T>G (p.Leu4317Arg)
c.12947T>G (p.Leu4316Arg)
c.12899T>G (p.Leu4300Arg)
c.12596T>G (p.Leu4199Arg)
c.13130T>G (p.Leu4377Arg)
c.13127T>G (p.Leu4376Arg)
c.13109T>G (p.Leu4370Arg)
c.13085T>G (p.Leu4362Arg)
c.13082T>G (p.Leu4361Arg)
c.13079T>G (p.Leu4360Arg)
c.13031T>G (p.Leu4344Arg)
c.13019T>G (p.Leu4340Arg)
c.12881T>G (p.Leu4294Arg)
c.12728T>G (p.Leu4243Arg)
Xg.53534598A>GCA413146436HUWE1c.12533T>C (p.Leu4178Pro)
c.12749T>C (p.Leu4250Pro)
c.3216T>C
n.62T>C
c.12722T>C (p.Leu4241Pro)
c.12998T>C (p.Leu4333Pro)
c.12995T>C (p.Leu4332Pro)
c.12953T>C (p.Leu4318Pro)
c.12950T>C (p.Leu4317Pro)
c.12947T>C (p.Leu4316Pro)
c.12899T>C (p.Leu4300Pro)
c.12596T>C (p.Leu4199Pro)
c.13130T>C (p.Leu4377Pro)
c.13127T>C (p.Leu4376Pro)
c.13109T>C (p.Leu4370Pro)
c.13085T>C (p.Leu4362Pro)
c.13082T>C (p.Leu4361Pro)
c.13079T>C (p.Leu4360Pro)
c.13031T>C (p.Leu4344Pro)
c.13019T>C (p.Leu4340Pro)
c.12881T>C (p.Leu4294Pro)
c.12728T>C (p.Leu4243Pro)
Xg.53534598A>TCA413146437HUWE1c.12533T>A (p.Leu4178His)
c.12749T>A (p.Leu4250His)
c.3216T>A
n.62T>A
c.12722T>A (p.Leu4241His)
c.12998T>A (p.Leu4333His)
c.12995T>A (p.Leu4332His)
c.12953T>A (p.Leu4318His)
c.12950T>A (p.Leu4317His)
c.12947T>A (p.Leu4316His)
c.12899T>A (p.Leu4300His)
c.12596T>A (p.Leu4199His)
c.13130T>A (p.Leu4377His)
c.13127T>A (p.Leu4376His)
c.13109T>A (p.Leu4370His)
c.13085T>A (p.Leu4362His)
c.13082T>A (p.Leu4361His)
c.13079T>A (p.Leu4360His)
c.13031T>A (p.Leu4344His)
c.13019T>A (p.Leu4340His)
c.12881T>A (p.Leu4294His)
c.12728T>A (p.Leu4243His)
Xg.53534599G>ACA413146442HUWE1c.12532C>T (p.Leu4178Phe)
c.12748C>T (p.Leu4250Phe)
c.3215C>T
n.61C>T
c.12721C>T (p.Leu4241Phe)
c.12997C>T (p.Leu4333Phe)
c.12994C>T (p.Leu4332Phe)
c.12952C>T (p.Leu4318Phe)
c.12949C>T (p.Leu4317Phe)
c.12946C>T (p.Leu4316Phe)
c.12898C>T (p.Leu4300Phe)
c.12595C>T (p.Leu4199Phe)
c.13129C>T (p.Leu4377Phe)
c.13126C>T (p.Leu4376Phe)
c.13108C>T (p.Leu4370Phe)
c.13084C>T (p.Leu4362Phe)
c.13081C>T (p.Leu4361Phe)
c.13078C>T (p.Leu4360Phe)
c.13030C>T (p.Leu4344Phe)
c.13018C>T (p.Leu4340Phe)
c.12880C>T (p.Leu4294Phe)
c.12727C>T (p.Leu4243Phe)
Xg.53534599G>CCA413146445HUWE1c.12532C>G (p.Leu4178Val)
c.12748C>G (p.Leu4250Val)
c.3215C>G
n.61C>G
c.12721C>G (p.Leu4241Val)
c.12997C>G (p.Leu4333Val)
c.12994C>G (p.Leu4332Val)
c.12952C>G (p.Leu4318Val)
c.12949C>G (p.Leu4317Val)
c.12946C>G (p.Leu4316Val)
c.12898C>G (p.Leu4300Val)
c.12595C>G (p.Leu4199Val)
c.13129C>G (p.Leu4377Val)
c.13126C>G (p.Leu4376Val)
c.13108C>G (p.Leu4370Val)
c.13084C>G (p.Leu4362Val)
c.13081C>G (p.Leu4361Val)
c.13078C>G (p.Leu4360Val)
c.13030C>G (p.Leu4344Val)
c.13018C>G (p.Leu4340Val)
c.12880C>G (p.Leu4294Val)
c.12727C>G (p.Leu4243Val)
Xg.53534599G>TCA413146447HUWE1c.12532C>A (p.Leu4178Ile)
c.12748C>A (p.Leu4250Ile)
c.3215C>A
n.61C>A
c.12721C>A (p.Leu4241Ile)
c.12997C>A (p.Leu4333Ile)
c.12994C>A (p.Leu4332Ile)
c.12952C>A (p.Leu4318Ile)
c.12949C>A (p.Leu4317Ile)
c.12946C>A (p.Leu4316Ile)
c.12898C>A (p.Leu4300Ile)
c.12595C>A (p.Leu4199Ile)
c.13129C>A (p.Leu4377Ile)
c.13126C>A (p.Leu4376Ile)
c.13108C>A (p.Leu4370Ile)
c.13084C>A (p.Leu4362Ile)
c.13081C>A (p.Leu4361Ile)
c.13078C>A (p.Leu4360Ile)
c.13030C>A (p.Leu4344Ile)
c.13018C>A (p.Leu4340Ile)
c.12880C>A (p.Leu4294Ile)
c.12727C>A (p.Leu4243Ile)
Xg.53534600C>ACA516420542HUWE1c.12531G>T (p.Leu4177=)
c.12747G>T (p.Leu4249=)
c.3214G>T
n.60G>T
c.12720G>T (p.Leu4240=)
c.12996G>T (p.Leu4332=)
c.12993G>T (p.Leu4331=)
c.12951G>T (p.Leu4317=)
c.12948G>T (p.Leu4316=)
c.12945G>T (p.Leu4315=)
c.12897G>T (p.Leu4299=)
c.12594G>T (p.Leu4198=)
c.13128G>T (p.Leu4376=)
c.13125G>T (p.Leu4375=)
c.13107G>T (p.Leu4369=)
c.13083G>T (p.Leu4361=)
c.13080G>T (p.Leu4360=)
c.13077G>T (p.Leu4359=)
c.13029G>T (p.Leu4343=)
c.13017G>T (p.Leu4339=)
c.12879G>T (p.Leu4293=)
c.12726G>T (p.Leu4242=)
 dbSNP gnomAD v4
Xg.53534600C=CA2429869113HUWE1c.12531G= (p.Leu4177=)
c.12747G= (p.Leu4249=)
c.3214G=
n.60G=
c.12720G= (p.Leu4240=)
c.12996G= (p.Leu4332=)
c.12993G= (p.Leu4331=)
c.12951G= (p.Leu4317=)
c.12948G= (p.Leu4316=)
c.12945G= (p.Leu4315=)
c.12897G= (p.Leu4299=)
c.12594G= (p.Leu4198=)
c.13128G= (p.Leu4376=)
c.13125G= (p.Leu4375=)
c.13107G= (p.Leu4369=)
c.13083G= (p.Leu4361=)
c.13080G= (p.Leu4360=)
c.13077G= (p.Leu4359=)
c.13029G= (p.Leu4343=)
c.13017G= (p.Leu4339=)
c.12879G= (p.Leu4293=)
c.12726G= (p.Leu4242=)
Xg.53534600C>GCA516420544HUWE1c.12531G>C (p.Leu4177=)
c.12747G>C (p.Leu4249=)
c.3214G>C
n.60G>C
c.12720G>C (p.Leu4240=)
c.12996G>C (p.Leu4332=)
c.12993G>C (p.Leu4331=)
c.12951G>C (p.Leu4317=)
c.12948G>C (p.Leu4316=)
c.12945G>C (p.Leu4315=)
c.12897G>C (p.Leu4299=)
c.12594G>C (p.Leu4198=)
c.13128G>C (p.Leu4376=)
c.13125G>C (p.Leu4375=)
c.13107G>C (p.Leu4369=)
c.13083G>C (p.Leu4361=)
c.13080G>C (p.Leu4360=)
c.13077G>C (p.Leu4359=)
c.13029G>C (p.Leu4343=)
c.13017G>C (p.Leu4339=)
c.12879G>C (p.Leu4293=)
c.12726G>C (p.Leu4242=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534600C>TCA516420550HUWE1c.12531G>A (p.Leu4177=)
c.12747G>A (p.Leu4249=)
c.3214G>A
n.60G>A
c.12720G>A (p.Leu4240=)
c.12996G>A (p.Leu4332=)
c.12993G>A (p.Leu4331=)
c.12951G>A (p.Leu4317=)
c.12948G>A (p.Leu4316=)
c.12945G>A (p.Leu4315=)
c.12897G>A (p.Leu4299=)
c.12594G>A (p.Leu4198=)
c.13128G>A (p.Leu4376=)
c.13125G>A (p.Leu4375=)
c.13107G>A (p.Leu4369=)
c.13083G>A (p.Leu4361=)
c.13080G>A (p.Leu4360=)
c.13077G>A (p.Leu4359=)
c.13029G>A (p.Leu4343=)
c.13017G>A (p.Leu4339=)
c.12879G>A (p.Leu4293=)
c.12726G>A (p.Leu4242=)
Xg.53534601A>CCA413146451HUWE1c.12530T>G (p.Leu4177Arg)
c.12746T>G (p.Leu4249Arg)
c.3213T>G
n.59T>G
c.12719T>G (p.Leu4240Arg)
c.12995T>G (p.Leu4332Arg)
c.12992T>G (p.Leu4331Arg)
c.12950T>G (p.Leu4317Arg)
c.12947T>G (p.Leu4316Arg)
c.12944T>G (p.Leu4315Arg)
c.12896T>G (p.Leu4299Arg)
c.12593T>G (p.Leu4198Arg)
c.13127T>G (p.Leu4376Arg)
c.13124T>G (p.Leu4375Arg)
c.13106T>G (p.Leu4369Arg)
c.13082T>G (p.Leu4361Arg)
c.13079T>G (p.Leu4360Arg)
c.13076T>G (p.Leu4359Arg)
c.13028T>G (p.Leu4343Arg)
c.13016T>G (p.Leu4339Arg)
c.12878T>G (p.Leu4293Arg)
c.12725T>G (p.Leu4242Arg)
Xg.53534601A>GCA413146454HUWE1c.12530T>C (p.Leu4177Pro)
c.12746T>C (p.Leu4249Pro)
c.3213T>C
n.59T>C
c.12719T>C (p.Leu4240Pro)
c.12995T>C (p.Leu4332Pro)
c.12992T>C (p.Leu4331Pro)
c.12950T>C (p.Leu4317Pro)
c.12947T>C (p.Leu4316Pro)
c.12944T>C (p.Leu4315Pro)
c.12896T>C (p.Leu4299Pro)
c.12593T>C (p.Leu4198Pro)
c.13127T>C (p.Leu4376Pro)
c.13124T>C (p.Leu4375Pro)
c.13106T>C (p.Leu4369Pro)
c.13082T>C (p.Leu4361Pro)
c.13079T>C (p.Leu4360Pro)
c.13076T>C (p.Leu4359Pro)
c.13028T>C (p.Leu4343Pro)
c.13016T>C (p.Leu4339Pro)
c.12878T>C (p.Leu4293Pro)
c.12725T>C (p.Leu4242Pro)
Xg.53534601A>TCA413146457HUWE1c.12530T>A (p.Leu4177Gln)
c.12746T>A (p.Leu4249Gln)
c.3213T>A
n.59T>A
c.12719T>A (p.Leu4240Gln)
c.12995T>A (p.Leu4332Gln)
c.12992T>A (p.Leu4331Gln)
c.12950T>A (p.Leu4317Gln)
c.12947T>A (p.Leu4316Gln)
c.12944T>A (p.Leu4315Gln)
c.12896T>A (p.Leu4299Gln)
c.12593T>A (p.Leu4198Gln)
c.13127T>A (p.Leu4376Gln)
c.13124T>A (p.Leu4375Gln)
c.13106T>A (p.Leu4369Gln)
c.13082T>A (p.Leu4361Gln)
c.13079T>A (p.Leu4360Gln)
c.13076T>A (p.Leu4359Gln)
c.13028T>A (p.Leu4343Gln)
c.13016T>A (p.Leu4339Gln)
c.12878T>A (p.Leu4293Gln)
c.12725T>A (p.Leu4242Gln)
Xg.53534602G>ACA516420557HUWE1c.12529C>T (p.Leu4177=)
c.12745C>T (p.Leu4249=)
c.3212C>T
n.58C>T
c.12718C>T (p.Leu4240=)
c.12994C>T (p.Leu4332=)
c.12991C>T (p.Leu4331=)
c.12949C>T (p.Leu4317=)
c.12946C>T (p.Leu4316=)
c.12943C>T (p.Leu4315=)
c.12895C>T (p.Leu4299=)
c.12592C>T (p.Leu4198=)
c.13126C>T (p.Leu4376=)
c.13123C>T (p.Leu4375=)
c.13105C>T (p.Leu4369=)
c.13081C>T (p.Leu4361=)
c.13078C>T (p.Leu4360=)
c.13075C>T (p.Leu4359=)
c.13027C>T (p.Leu4343=)
c.13015C>T (p.Leu4339=)
c.12877C>T (p.Leu4293=)
c.12724C>T (p.Leu4242=)
 dbSNP gnomAD v4
Xg.53534602G>CCA413146461HUWE1c.12529C>G (p.Leu4177Val)
c.12745C>G (p.Leu4249Val)
c.3212C>G
n.58C>G
c.12718C>G (p.Leu4240Val)
c.12994C>G (p.Leu4332Val)
c.12991C>G (p.Leu4331Val)
c.12949C>G (p.Leu4317Val)
c.12946C>G (p.Leu4316Val)
c.12943C>G (p.Leu4315Val)
c.12895C>G (p.Leu4299Val)
c.12592C>G (p.Leu4198Val)
c.13126C>G (p.Leu4376Val)
c.13123C>G (p.Leu4375Val)
c.13105C>G (p.Leu4369Val)
c.13081C>G (p.Leu4361Val)
c.13078C>G (p.Leu4360Val)
c.13075C>G (p.Leu4359Val)
c.13027C>G (p.Leu4343Val)
c.13015C>G (p.Leu4339Val)
c.12877C>G (p.Leu4293Val)
c.12724C>G (p.Leu4242Val)
Xg.53534602G=CA2429869114HUWE1c.12529C= (p.Leu4177=)
c.12745C= (p.Leu4249=)
c.3212C=
n.58C=
c.12718C= (p.Leu4240=)
c.12994C= (p.Leu4332=)
c.12991C= (p.Leu4331=)
c.12949C= (p.Leu4317=)
c.12946C= (p.Leu4316=)
c.12943C= (p.Leu4315=)
c.12895C= (p.Leu4299=)
c.12592C= (p.Leu4198=)
c.13126C= (p.Leu4376=)
c.13123C= (p.Leu4375=)
c.13105C= (p.Leu4369=)
c.13081C= (p.Leu4361=)
c.13078C= (p.Leu4360=)
c.13075C= (p.Leu4359=)
c.13027C= (p.Leu4343=)
c.13015C= (p.Leu4339=)
c.12877C= (p.Leu4293=)
c.12724C= (p.Leu4242=)
Xg.53534602G>TCA413146464HUWE1c.12529C>A (p.Leu4177Met)
c.12745C>A (p.Leu4249Met)
c.3212C>A
n.58C>A
c.12718C>A (p.Leu4240Met)
c.12994C>A (p.Leu4332Met)
c.12991C>A (p.Leu4331Met)
c.12949C>A (p.Leu4317Met)
c.12946C>A (p.Leu4316Met)
c.12943C>A (p.Leu4315Met)
c.12895C>A (p.Leu4299Met)
c.12592C>A (p.Leu4198Met)
c.13126C>A (p.Leu4376Met)
c.13123C>A (p.Leu4375Met)
c.13105C>A (p.Leu4369Met)
c.13081C>A (p.Leu4361Met)
c.13078C>A (p.Leu4360Met)
c.13075C>A (p.Leu4359Met)
c.13027C>A (p.Leu4343Met)
c.13015C>A (p.Leu4339Met)
c.12877C>A (p.Leu4293Met)
c.12724C>A (p.Leu4242Met)
Xg.53534603C>ACA413146468HUWE1c.12528G>T (p.Glu4176Asp)
c.12744G>T (p.Glu4248Asp)
c.3211G>T
n.57G>T
c.12717G>T (p.Glu4239Asp)
c.12993G>T (p.Glu4331Asp)
c.12990G>T (p.Glu4330Asp)
c.12948G>T (p.Glu4316Asp)
c.12945G>T (p.Glu4315Asp)
c.12942G>T (p.Glu4314Asp)
c.12894G>T (p.Glu4298Asp)
c.12591G>T (p.Glu4197Asp)
c.13125G>T (p.Glu4375Asp)
c.13122G>T (p.Glu4374Asp)
c.13104G>T (p.Glu4368Asp)
c.13080G>T (p.Glu4360Asp)
c.13077G>T (p.Glu4359Asp)
c.13074G>T (p.Glu4358Asp)
c.13026G>T (p.Glu4342Asp)
c.13014G>T (p.Glu4338Asp)
c.12876G>T (p.Glu4292Asp)
c.12723G>T (p.Glu4241Asp)
Xg.53534603C>GCA413146472HUWE1c.12528G>C (p.Glu4176Asp)
c.12744G>C (p.Glu4248Asp)
c.3211G>C
n.57G>C
c.12717G>C (p.Glu4239Asp)
c.12993G>C (p.Glu4331Asp)
c.12990G>C (p.Glu4330Asp)
c.12948G>C (p.Glu4316Asp)
c.12945G>C (p.Glu4315Asp)
c.12942G>C (p.Glu4314Asp)
c.12894G>C (p.Glu4298Asp)
c.12591G>C (p.Glu4197Asp)
c.13125G>C (p.Glu4375Asp)
c.13122G>C (p.Glu4374Asp)
c.13104G>C (p.Glu4368Asp)
c.13080G>C (p.Glu4360Asp)
c.13077G>C (p.Glu4359Asp)
c.13074G>C (p.Glu4358Asp)
c.13026G>C (p.Glu4342Asp)
c.13014G>C (p.Glu4338Asp)
c.12876G>C (p.Glu4292Asp)
c.12723G>C (p.Glu4241Asp)
Xg.53534603C>TCA516420572HUWE1c.12528G>A (p.Glu4176=)
c.12744G>A (p.Glu4248=)
c.3211G>A
n.57G>A
c.12717G>A (p.Glu4239=)
c.12993G>A (p.Glu4331=)
c.12990G>A (p.Glu4330=)
c.12948G>A (p.Glu4316=)
c.12945G>A (p.Glu4315=)
c.12942G>A (p.Glu4314=)
c.12894G>A (p.Glu4298=)
c.12591G>A (p.Glu4197=)
c.13125G>A (p.Glu4375=)
c.13122G>A (p.Glu4374=)
c.13104G>A (p.Glu4368=)
c.13080G>A (p.Glu4360=)
c.13077G>A (p.Glu4359=)
c.13074G>A (p.Glu4358=)
c.13026G>A (p.Glu4342=)
c.13014G>A (p.Glu4338=)
c.12876G>A (p.Glu4292=)
c.12723G>A (p.Glu4241=)
Xg.53534604T>ACA413146477HUWE1c.12527A>T (p.Glu4176Val)
c.12743A>T (p.Glu4248Val)
c.3210A>T
n.56A>T
c.12716A>T (p.Glu4239Val)
c.12992A>T (p.Glu4331Val)
c.12989A>T (p.Glu4330Val)
c.12947A>T (p.Glu4316Val)
c.12944A>T (p.Glu4315Val)
c.12941A>T (p.Glu4314Val)
c.12893A>T (p.Glu4298Val)
c.12590A>T (p.Glu4197Val)
c.13124A>T (p.Glu4375Val)
c.13121A>T (p.Glu4374Val)
c.13103A>T (p.Glu4368Val)
c.13079A>T (p.Glu4360Val)
c.13076A>T (p.Glu4359Val)
c.13073A>T (p.Glu4358Val)
c.13025A>T (p.Glu4342Val)
c.13013A>T (p.Glu4338Val)
c.12875A>T (p.Glu4292Val)
c.12722A>T (p.Glu4241Val)
Xg.53534604T>CCA413146480HUWE1c.12527A>G (p.Glu4176Gly)
c.12743A>G (p.Glu4248Gly)
c.3210A>G
n.56A>G
c.12716A>G (p.Glu4239Gly)
c.12992A>G (p.Glu4331Gly)
c.12989A>G (p.Glu4330Gly)
c.12947A>G (p.Glu4316Gly)
c.12944A>G (p.Glu4315Gly)
c.12941A>G (p.Glu4314Gly)
c.12893A>G (p.Glu4298Gly)
c.12590A>G (p.Glu4197Gly)
c.13124A>G (p.Glu4375Gly)
c.13121A>G (p.Glu4374Gly)
c.13103A>G (p.Glu4368Gly)
c.13079A>G (p.Glu4360Gly)
c.13076A>G (p.Glu4359Gly)
c.13073A>G (p.Glu4358Gly)
c.13025A>G (p.Glu4342Gly)
c.13013A>G (p.Glu4338Gly)
c.12875A>G (p.Glu4292Gly)
c.12722A>G (p.Glu4241Gly)
Xg.53534604T>GCA413146483HUWE1c.12527A>C (p.Glu4176Ala)
c.12743A>C (p.Glu4248Ala)
c.3210A>C
n.56A>C
c.12716A>C (p.Glu4239Ala)
c.12992A>C (p.Glu4331Ala)
c.12989A>C (p.Glu4330Ala)
c.12947A>C (p.Glu4316Ala)
c.12944A>C (p.Glu4315Ala)
c.12941A>C (p.Glu4314Ala)
c.12893A>C (p.Glu4298Ala)
c.12590A>C (p.Glu4197Ala)
c.13124A>C (p.Glu4375Ala)
c.13121A>C (p.Glu4374Ala)
c.13103A>C (p.Glu4368Ala)
c.13079A>C (p.Glu4360Ala)
c.13076A>C (p.Glu4359Ala)
c.13073A>C (p.Glu4358Ala)
c.13025A>C (p.Glu4342Ala)
c.13013A>C (p.Glu4338Ala)
c.12875A>C (p.Glu4292Ala)
c.12722A>C (p.Glu4241Ala)
Xg.53534605C>ACA413146492HUWE1c.12526G>T (p.Glu4176Ter)
c.12742G>T (p.Glu4248Ter)
c.3209G>T
n.55G>T
c.12715G>T (p.Glu4239Ter)
c.12991G>T (p.Glu4331Ter)
c.12988G>T (p.Glu4330Ter)
c.12946G>T (p.Glu4316Ter)
c.12943G>T (p.Glu4315Ter)
c.12940G>T (p.Glu4314Ter)
c.12892G>T (p.Glu4298Ter)
c.12589G>T (p.Glu4197Ter)
c.13123G>T (p.Glu4375Ter)
c.13120G>T (p.Glu4374Ter)
c.13102G>T (p.Glu4368Ter)
c.13078G>T (p.Glu4360Ter)
c.13075G>T (p.Glu4359Ter)
c.13072G>T (p.Glu4358Ter)
c.13024G>T (p.Glu4342Ter)
c.13012G>T (p.Glu4338Ter)
c.12874G>T (p.Glu4292Ter)
c.12721G>T (p.Glu4241Ter)
Xg.53534605C>GCA413146494HUWE1c.12526G>C (p.Glu4176Gln)
c.12742G>C (p.Glu4248Gln)
c.3209G>C
n.55G>C
c.12715G>C (p.Glu4239Gln)
c.12991G>C (p.Glu4331Gln)
c.12988G>C (p.Glu4330Gln)
c.12946G>C (p.Glu4316Gln)
c.12943G>C (p.Glu4315Gln)
c.12940G>C (p.Glu4314Gln)
c.12892G>C (p.Glu4298Gln)
c.12589G>C (p.Glu4197Gln)
c.13123G>C (p.Glu4375Gln)
c.13120G>C (p.Glu4374Gln)
c.13102G>C (p.Glu4368Gln)
c.13078G>C (p.Glu4360Gln)
c.13075G>C (p.Glu4359Gln)
c.13072G>C (p.Glu4358Gln)
c.13024G>C (p.Glu4342Gln)
c.13012G>C (p.Glu4338Gln)
c.12874G>C (p.Glu4292Gln)
c.12721G>C (p.Glu4241Gln)
 gnomAD v4
Xg.53534605C>TCA413146497HUWE1c.12526G>A (p.Glu4176Lys)
c.12742G>A (p.Glu4248Lys)
c.3209G>A
n.55G>A
c.12715G>A (p.Glu4239Lys)
c.12991G>A (p.Glu4331Lys)
c.12988G>A (p.Glu4330Lys)
c.12946G>A (p.Glu4316Lys)
c.12943G>A (p.Glu4315Lys)
c.12940G>A (p.Glu4314Lys)
c.12892G>A (p.Glu4298Lys)
c.12589G>A (p.Glu4197Lys)
c.13123G>A (p.Glu4375Lys)
c.13120G>A (p.Glu4374Lys)
c.13102G>A (p.Glu4368Lys)
c.13078G>A (p.Glu4360Lys)
c.13075G>A (p.Glu4359Lys)
c.13072G>A (p.Glu4358Lys)
c.13024G>A (p.Glu4342Lys)
c.13012G>A (p.Glu4338Lys)
c.12874G>A (p.Glu4292Lys)
c.12721G>A (p.Glu4241Lys)
 COSMIC COSMIC
Xg.53534606T>ACA413146501HUWE1c.12525A>T (p.Leu4175Phe)
c.12741A>T (p.Leu4247Phe)
c.3208A>T
n.54A>T
c.12714A>T (p.Leu4238Phe)
c.12990A>T (p.Leu4330Phe)
c.12987A>T (p.Leu4329Phe)
c.12945A>T (p.Leu4315Phe)
c.12942A>T (p.Leu4314Phe)
c.12939A>T (p.Leu4313Phe)
c.12891A>T (p.Leu4297Phe)
c.12588A>T (p.Leu4196Phe)
c.13122A>T (p.Leu4374Phe)
c.13119A>T (p.Leu4373Phe)
c.13101A>T (p.Leu4367Phe)
c.13077A>T (p.Leu4359Phe)
c.13074A>T (p.Leu4358Phe)
c.13071A>T (p.Leu4357Phe)
c.13023A>T (p.Leu4341Phe)
c.13011A>T (p.Leu4337Phe)
c.12873A>T (p.Leu4291Phe)
c.12720A>T (p.Leu4240Phe)
 COSMIC
Xg.53534606T>CCA516420575HUWE1c.12525A>G (p.Leu4175=)
c.12741A>G (p.Leu4247=)
c.3208A>G
n.54A>G
c.12714A>G (p.Leu4238=)
c.12990A>G (p.Leu4330=)
c.12987A>G (p.Leu4329=)
c.12945A>G (p.Leu4315=)
c.12942A>G (p.Leu4314=)
c.12939A>G (p.Leu4313=)
c.12891A>G (p.Leu4297=)
c.12588A>G (p.Leu4196=)
c.13122A>G (p.Leu4374=)
c.13119A>G (p.Leu4373=)
c.13101A>G (p.Leu4367=)
c.13077A>G (p.Leu4359=)
c.13074A>G (p.Leu4358=)
c.13071A>G (p.Leu4357=)
c.13023A>G (p.Leu4341=)
c.13011A>G (p.Leu4337=)
c.12873A>G (p.Leu4291=)
c.12720A>G (p.Leu4240=)
Xg.53534606T>GCA413146504HUWE1c.12525A>C (p.Leu4175Phe)
c.12741A>C (p.Leu4247Phe)
c.3208A>C
n.54A>C
c.12714A>C (p.Leu4238Phe)
c.12990A>C (p.Leu4330Phe)
c.12987A>C (p.Leu4329Phe)
c.12945A>C (p.Leu4315Phe)
c.12942A>C (p.Leu4314Phe)
c.12939A>C (p.Leu4313Phe)
c.12891A>C (p.Leu4297Phe)
c.12588A>C (p.Leu4196Phe)
c.13122A>C (p.Leu4374Phe)
c.13119A>C (p.Leu4373Phe)
c.13101A>C (p.Leu4367Phe)
c.13077A>C (p.Leu4359Phe)
c.13074A>C (p.Leu4358Phe)
c.13071A>C (p.Leu4357Phe)
c.13023A>C (p.Leu4341Phe)
c.13011A>C (p.Leu4337Phe)
c.12873A>C (p.Leu4291Phe)
c.12720A>C (p.Leu4240Phe)
 gnomAD v4
Xg.53534607A>CCA413146508HUWE1c.12524T>G (p.Leu4175Ter)
c.12740T>G (p.Leu4247Ter)
c.3207T>G
n.53T>G
c.12713T>G (p.Leu4238Ter)
c.12989T>G (p.Leu4330Ter)
c.12986T>G (p.Leu4329Ter)
c.12944T>G (p.Leu4315Ter)
c.12941T>G (p.Leu4314Ter)
c.12938T>G (p.Leu4313Ter)
c.12890T>G (p.Leu4297Ter)
c.12587T>G (p.Leu4196Ter)
c.13121T>G (p.Leu4374Ter)
c.13118T>G (p.Leu4373Ter)
c.13100T>G (p.Leu4367Ter)
c.13076T>G (p.Leu4359Ter)
c.13073T>G (p.Leu4358Ter)
c.13070T>G (p.Leu4357Ter)
c.13022T>G (p.Leu4341Ter)
c.13010T>G (p.Leu4337Ter)
c.12872T>G (p.Leu4291Ter)
c.12719T>G (p.Leu4240Ter)
Xg.53534607A>GCA413146512HUWE1c.12524T>C (p.Leu4175Ser)
c.12740T>C (p.Leu4247Ser)
c.3207T>C
n.53T>C
c.12713T>C (p.Leu4238Ser)
c.12989T>C (p.Leu4330Ser)
c.12986T>C (p.Leu4329Ser)
c.12944T>C (p.Leu4315Ser)
c.12941T>C (p.Leu4314Ser)
c.12938T>C (p.Leu4313Ser)
c.12890T>C (p.Leu4297Ser)
c.12587T>C (p.Leu4196Ser)
c.13121T>C (p.Leu4374Ser)
c.13118T>C (p.Leu4373Ser)
c.13100T>C (p.Leu4367Ser)
c.13076T>C (p.Leu4359Ser)
c.13073T>C (p.Leu4358Ser)
c.13070T>C (p.Leu4357Ser)
c.13022T>C (p.Leu4341Ser)
c.13010T>C (p.Leu4337Ser)
c.12872T>C (p.Leu4291Ser)
c.12719T>C (p.Leu4240Ser)
Xg.53534607A>TCA413146515HUWE1c.12524T>A (p.Leu4175Ter)
c.12740T>A (p.Leu4247Ter)
c.3207T>A
n.53T>A
c.12713T>A (p.Leu4238Ter)
c.12989T>A (p.Leu4330Ter)
c.12986T>A (p.Leu4329Ter)
c.12944T>A (p.Leu4315Ter)
c.12941T>A (p.Leu4314Ter)
c.12938T>A (p.Leu4313Ter)
c.12890T>A (p.Leu4297Ter)
c.12587T>A (p.Leu4196Ter)
c.13121T>A (p.Leu4374Ter)
c.13118T>A (p.Leu4373Ter)
c.13100T>A (p.Leu4367Ter)
c.13076T>A (p.Leu4359Ter)
c.13073T>A (p.Leu4358Ter)
c.13070T>A (p.Leu4357Ter)
c.13022T>A (p.Leu4341Ter)
c.13010T>A (p.Leu4337Ter)
c.12872T>A (p.Leu4291Ter)
c.12719T>A (p.Leu4240Ter)
Xg.53534608A>CCA413146518HUWE1c.12523T>G (p.Leu4175Val)
c.12739T>G (p.Leu4247Val)
c.3206T>G
n.52T>G
c.12712T>G (p.Leu4238Val)
c.12988T>G (p.Leu4330Val)
c.12985T>G (p.Leu4329Val)
c.12943T>G (p.Leu4315Val)
c.12940T>G (p.Leu4314Val)
c.12937T>G (p.Leu4313Val)
c.12889T>G (p.Leu4297Val)
c.12586T>G (p.Leu4196Val)
c.13120T>G (p.Leu4374Val)
c.13117T>G (p.Leu4373Val)
c.13099T>G (p.Leu4367Val)
c.13075T>G (p.Leu4359Val)
c.13072T>G (p.Leu4358Val)
c.13069T>G (p.Leu4357Val)
c.13021T>G (p.Leu4341Val)
c.13009T>G (p.Leu4337Val)
c.12871T>G (p.Leu4291Val)
c.12718T>G (p.Leu4240Val)
Xg.53534608A>GCA516420579HUWE1c.12523T>C (p.Leu4175=)
c.12739T>C (p.Leu4247=)
c.3206T>C
n.52T>C
c.12712T>C (p.Leu4238=)
c.12988T>C (p.Leu4330=)
c.12985T>C (p.Leu4329=)
c.12943T>C (p.Leu4315=)
c.12940T>C (p.Leu4314=)
c.12937T>C (p.Leu4313=)
c.12889T>C (p.Leu4297=)
c.12586T>C (p.Leu4196=)
c.13120T>C (p.Leu4374=)
c.13117T>C (p.Leu4373=)
c.13099T>C (p.Leu4367=)
c.13075T>C (p.Leu4359=)
c.13072T>C (p.Leu4358=)
c.13069T>C (p.Leu4357=)
c.13021T>C (p.Leu4341=)
c.13009T>C (p.Leu4337=)
c.12871T>C (p.Leu4291=)
c.12718T>C (p.Leu4240=)
Xg.53534608A>TCA413146521HUWE1c.12523T>A (p.Leu4175Ile)
c.12739T>A (p.Leu4247Ile)
c.3206T>A
n.52T>A
c.12712T>A (p.Leu4238Ile)
c.12988T>A (p.Leu4330Ile)
c.12985T>A (p.Leu4329Ile)
c.12943T>A (p.Leu4315Ile)
c.12940T>A (p.Leu4314Ile)
c.12937T>A (p.Leu4313Ile)
c.12889T>A (p.Leu4297Ile)
c.12586T>A (p.Leu4196Ile)
c.13120T>A (p.Leu4374Ile)
c.13117T>A (p.Leu4373Ile)
c.13099T>A (p.Leu4367Ile)
c.13075T>A (p.Leu4359Ile)
c.13072T>A (p.Leu4358Ile)
c.13069T>A (p.Leu4357Ile)
c.13021T>A (p.Leu4341Ile)
c.13009T>A (p.Leu4337Ile)
c.12871T>A (p.Leu4291Ile)
c.12718T>A (p.Leu4240Ile)
Xg.53534609C>ACA413146528HUWE1c.12522G>T (p.Glu4174Asp)
c.12738G>T (p.Glu4246Asp)
c.3205G>T
n.51G>T
c.12711G>T (p.Glu4237Asp)
c.12987G>T (p.Glu4329Asp)
c.12984G>T (p.Glu4328Asp)
c.12942G>T (p.Glu4314Asp)
c.12939G>T (p.Glu4313Asp)
c.12936G>T (p.Glu4312Asp)
c.12888G>T (p.Glu4296Asp)
c.12585G>T (p.Glu4195Asp)
c.13119G>T (p.Glu4373Asp)
c.13116G>T (p.Glu4372Asp)
c.13098G>T (p.Glu4366Asp)
c.13074G>T (p.Glu4358Asp)
c.13071G>T (p.Glu4357Asp)
c.13068G>T (p.Glu4356Asp)
c.13020G>T (p.Glu4340Asp)
c.13008G>T (p.Glu4336Asp)
c.12870G>T (p.Glu4290Asp)
c.12717G>T (p.Glu4239Asp)
Xg.53534609C>GCA413146525HUWE1c.12522G>C (p.Glu4174Asp)
c.12738G>C (p.Glu4246Asp)
c.3205G>C
n.51G>C
c.12711G>C (p.Glu4237Asp)
c.12987G>C (p.Glu4329Asp)
c.12984G>C (p.Glu4328Asp)
c.12942G>C (p.Glu4314Asp)
c.12939G>C (p.Glu4313Asp)
c.12936G>C (p.Glu4312Asp)
c.12888G>C (p.Glu4296Asp)
c.12585G>C (p.Glu4195Asp)
c.13119G>C (p.Glu4373Asp)
c.13116G>C (p.Glu4372Asp)
c.13098G>C (p.Glu4366Asp)
c.13074G>C (p.Glu4358Asp)
c.13071G>C (p.Glu4357Asp)
c.13068G>C (p.Glu4356Asp)
c.13020G>C (p.Glu4340Asp)
c.13008G>C (p.Glu4336Asp)
c.12870G>C (p.Glu4290Asp)
c.12717G>C (p.Glu4239Asp)
Xg.53534609C>TCA516420585HUWE1c.12522G>A (p.Glu4174=)
c.12738G>A (p.Glu4246=)
c.3205G>A
n.51G>A
c.12711G>A (p.Glu4237=)
c.12987G>A (p.Glu4329=)
c.12984G>A (p.Glu4328=)
c.12942G>A (p.Glu4314=)
c.12939G>A (p.Glu4313=)
c.12936G>A (p.Glu4312=)
c.12888G>A (p.Glu4296=)
c.12585G>A (p.Glu4195=)
c.13119G>A (p.Glu4373=)
c.13116G>A (p.Glu4372=)
c.13098G>A (p.Glu4366=)
c.13074G>A (p.Glu4358=)
c.13071G>A (p.Glu4357=)
c.13068G>A (p.Glu4356=)
c.13020G>A (p.Glu4340=)
c.13008G>A (p.Glu4336=)
c.12870G>A (p.Glu4290=)
c.12717G>A (p.Glu4239=)
Xg.53534610T>ACA413146533HUWE1c.12521A>T (p.Glu4174Val)
c.12737A>T (p.Glu4246Val)
c.3204A>T
n.50A>T
c.12710A>T (p.Glu4237Val)
c.12986A>T (p.Glu4329Val)
c.12983A>T (p.Glu4328Val)
c.12941A>T (p.Glu4314Val)
c.12938A>T (p.Glu4313Val)
c.12935A>T (p.Glu4312Val)
c.12887A>T (p.Glu4296Val)
c.12584A>T (p.Glu4195Val)
c.13118A>T (p.Glu4373Val)
c.13115A>T (p.Glu4372Val)
c.13097A>T (p.Glu4366Val)
c.13073A>T (p.Glu4358Val)
c.13070A>T (p.Glu4357Val)
c.13067A>T (p.Glu4356Val)
c.13019A>T (p.Glu4340Val)
c.13007A>T (p.Glu4336Val)
c.12869A>T (p.Glu4290Val)
c.12716A>T (p.Glu4239Val)
Xg.53534610T>CCA413146536HUWE1c.12521A>G (p.Glu4174Gly)
c.12737A>G (p.Glu4246Gly)
c.3204A>G
n.50A>G
c.12710A>G (p.Glu4237Gly)
c.12986A>G (p.Glu4329Gly)
c.12983A>G (p.Glu4328Gly)
c.12941A>G (p.Glu4314Gly)
c.12938A>G (p.Glu4313Gly)
c.12935A>G (p.Glu4312Gly)
c.12887A>G (p.Glu4296Gly)
c.12584A>G (p.Glu4195Gly)
c.13118A>G (p.Glu4373Gly)
c.13115A>G (p.Glu4372Gly)
c.13097A>G (p.Glu4366Gly)
c.13073A>G (p.Glu4358Gly)
c.13070A>G (p.Glu4357Gly)
c.13067A>G (p.Glu4356Gly)
c.13019A>G (p.Glu4340Gly)
c.13007A>G (p.Glu4336Gly)
c.12869A>G (p.Glu4290Gly)
c.12716A>G (p.Glu4239Gly)
Xg.53534610T>GCA413146538HUWE1c.12521A>C (p.Glu4174Ala)
c.12737A>C (p.Glu4246Ala)
c.3204A>C
n.50A>C
c.12710A>C (p.Glu4237Ala)
c.12986A>C (p.Glu4329Ala)
c.12983A>C (p.Glu4328Ala)
c.12941A>C (p.Glu4314Ala)
c.12938A>C (p.Glu4313Ala)
c.12935A>C (p.Glu4312Ala)
c.12887A>C (p.Glu4296Ala)
c.12584A>C (p.Glu4195Ala)
c.13118A>C (p.Glu4373Ala)
c.13115A>C (p.Glu4372Ala)
c.13097A>C (p.Glu4366Ala)
c.13073A>C (p.Glu4358Ala)
c.13070A>C (p.Glu4357Ala)
c.13067A>C (p.Glu4356Ala)
c.13019A>C (p.Glu4340Ala)
c.13007A>C (p.Glu4336Ala)
c.12869A>C (p.Glu4290Ala)
c.12716A>C (p.Glu4239Ala)
Xg.53534611C>ACA413146544HUWE1c.12520G>T (p.Glu4174Ter)
c.12736G>T (p.Glu4246Ter)
c.3203G>T
n.49G>T
c.12709G>T (p.Glu4237Ter)
c.12985G>T (p.Glu4329Ter)
c.12982G>T (p.Glu4328Ter)
c.12940G>T (p.Glu4314Ter)
c.12937G>T (p.Glu4313Ter)
c.12934G>T (p.Glu4312Ter)
c.12886G>T (p.Glu4296Ter)
c.12583G>T (p.Glu4195Ter)
c.13117G>T (p.Glu4373Ter)
c.13114G>T (p.Glu4372Ter)
c.13096G>T (p.Glu4366Ter)
c.13072G>T (p.Glu4358Ter)
c.13069G>T (p.Glu4357Ter)
c.13066G>T (p.Glu4356Ter)
c.13018G>T (p.Glu4340Ter)
c.13006G>T (p.Glu4336Ter)
c.12868G>T (p.Glu4290Ter)
c.12715G>T (p.Glu4239Ter)
Xg.53534611C>GCA413146546HUWE1c.12520G>C (p.Glu4174Gln)
c.12736G>C (p.Glu4246Gln)
c.3203G>C
n.49G>C
c.12709G>C (p.Glu4237Gln)
c.12985G>C (p.Glu4329Gln)
c.12982G>C (p.Glu4328Gln)
c.12940G>C (p.Glu4314Gln)
c.12937G>C (p.Glu4313Gln)
c.12934G>C (p.Glu4312Gln)
c.12886G>C (p.Glu4296Gln)
c.12583G>C (p.Glu4195Gln)
c.13117G>C (p.Glu4373Gln)
c.13114G>C (p.Glu4372Gln)
c.13096G>C (p.Glu4366Gln)
c.13072G>C (p.Glu4358Gln)
c.13069G>C (p.Glu4357Gln)
c.13066G>C (p.Glu4356Gln)
c.13018G>C (p.Glu4340Gln)
c.13006G>C (p.Glu4336Gln)
c.12868G>C (p.Glu4290Gln)
c.12715G>C (p.Glu4239Gln)
Xg.53534611C>TCA413146548HUWE1c.12520G>A (p.Glu4174Lys)
c.12736G>A (p.Glu4246Lys)
c.3203G>A
n.49G>A
c.12709G>A (p.Glu4237Lys)
c.12985G>A (p.Glu4329Lys)
c.12982G>A (p.Glu4328Lys)
c.12940G>A (p.Glu4314Lys)
c.12937G>A (p.Glu4313Lys)
c.12934G>A (p.Glu4312Lys)
c.12886G>A (p.Glu4296Lys)
c.12583G>A (p.Glu4195Lys)
c.13117G>A (p.Glu4373Lys)
c.13114G>A (p.Glu4372Lys)
c.13096G>A (p.Glu4366Lys)
c.13072G>A (p.Glu4358Lys)
c.13069G>A (p.Glu4357Lys)
c.13066G>A (p.Glu4356Lys)
c.13018G>A (p.Glu4340Lys)
c.13006G>A (p.Glu4336Lys)
c.12868G>A (p.Glu4290Lys)
c.12715G>A (p.Glu4239Lys)
Xg.53534612C>ACA413146552HUWE1c.12519G>T (p.Gln4173His)
c.12735G>T (p.Gln4245His)
c.3202G>T
n.48G>T
c.12708G>T (p.Gln4236His)
c.12984G>T (p.Gln4328His)
c.12981G>T (p.Gln4327His)
c.12939G>T (p.Gln4313His)
c.12936G>T (p.Gln4312His)
c.12933G>T (p.Gln4311His)
c.12885G>T (p.Gln4295His)
c.12582G>T (p.Gln4194His)
c.13116G>T (p.Gln4372His)
c.13113G>T (p.Gln4371His)
c.13095G>T (p.Gln4365His)
c.13071G>T (p.Gln4357His)
c.13068G>T (p.Gln4356His)
c.13065G>T (p.Gln4355His)
c.13017G>T (p.Gln4339His)
c.13005G>T (p.Gln4335His)
c.12867G>T (p.Gln4289His)
c.12714G>T (p.Gln4238His)
Xg.53534612C>GCA413146555HUWE1c.12519G>C (p.Gln4173His)
c.12735G>C (p.Gln4245His)
c.3202G>C
n.48G>C
c.12708G>C (p.Gln4236His)
c.12984G>C (p.Gln4328His)
c.12981G>C (p.Gln4327His)
c.12939G>C (p.Gln4313His)
c.12936G>C (p.Gln4312His)
c.12933G>C (p.Gln4311His)
c.12885G>C (p.Gln4295His)
c.12582G>C (p.Gln4194His)
c.13116G>C (p.Gln4372His)
c.13113G>C (p.Gln4371His)
c.13095G>C (p.Gln4365His)
c.13071G>C (p.Gln4357His)
c.13068G>C (p.Gln4356His)
c.13065G>C (p.Gln4355His)
c.13017G>C (p.Gln4339His)
c.13005G>C (p.Gln4335His)
c.12867G>C (p.Gln4289His)
c.12714G>C (p.Gln4238His)
Xg.53534612C>TCA516420598HUWE1c.12519G>A (p.Gln4173=)
c.12735G>A (p.Gln4245=)
c.3202G>A
n.48G>A
c.12708G>A (p.Gln4236=)
c.12984G>A (p.Gln4328=)
c.12981G>A (p.Gln4327=)
c.12939G>A (p.Gln4313=)
c.12936G>A (p.Gln4312=)
c.12933G>A (p.Gln4311=)
c.12885G>A (p.Gln4295=)
c.12582G>A (p.Gln4194=)
c.13116G>A (p.Gln4372=)
c.13113G>A (p.Gln4371=)
c.13095G>A (p.Gln4365=)
c.13071G>A (p.Gln4357=)
c.13068G>A (p.Gln4356=)
c.13065G>A (p.Gln4355=)
c.13017G>A (p.Gln4339=)
c.13005G>A (p.Gln4335=)
c.12867G>A (p.Gln4289=)
c.12714G>A (p.Gln4238=)
 COSMIC COSMIC
Xg.53534613T>ACA413146559HUWE1c.12518A>T (p.Gln4173Leu)
c.12734A>T (p.Gln4245Leu)
c.3201A>T
n.47A>T
c.12707A>T (p.Gln4236Leu)
c.12983A>T (p.Gln4328Leu)
c.12980A>T (p.Gln4327Leu)
c.12938A>T (p.Gln4313Leu)
c.12935A>T (p.Gln4312Leu)
c.12932A>T (p.Gln4311Leu)
c.12884A>T (p.Gln4295Leu)
c.12581A>T (p.Gln4194Leu)
c.13115A>T (p.Gln4372Leu)
c.13112A>T (p.Gln4371Leu)
c.13094A>T (p.Gln4365Leu)
c.13070A>T (p.Gln4357Leu)
c.13067A>T (p.Gln4356Leu)
c.13064A>T (p.Gln4355Leu)
c.13016A>T (p.Gln4339Leu)
c.13004A>T (p.Gln4335Leu)
c.12866A>T (p.Gln4289Leu)
c.12713A>T (p.Gln4238Leu)
Xg.53534613T>CCA413146561HUWE1c.12518A>G (p.Gln4173Arg)
c.12734A>G (p.Gln4245Arg)
c.3201A>G
n.47A>G
c.12707A>G (p.Gln4236Arg)
c.12983A>G (p.Gln4328Arg)
c.12980A>G (p.Gln4327Arg)
c.12938A>G (p.Gln4313Arg)
c.12935A>G (p.Gln4312Arg)
c.12932A>G (p.Gln4311Arg)
c.12884A>G (p.Gln4295Arg)
c.12581A>G (p.Gln4194Arg)
c.13115A>G (p.Gln4372Arg)
c.13112A>G (p.Gln4371Arg)
c.13094A>G (p.Gln4365Arg)
c.13070A>G (p.Gln4357Arg)
c.13067A>G (p.Gln4356Arg)
c.13064A>G (p.Gln4355Arg)
c.13016A>G (p.Gln4339Arg)
c.13004A>G (p.Gln4335Arg)
c.12866A>G (p.Gln4289Arg)
c.12713A>G (p.Gln4238Arg)
Xg.53534613T>GCA413146564HUWE1c.12518A>C (p.Gln4173Pro)
c.12734A>C (p.Gln4245Pro)
c.3201A>C
n.47A>C
c.12707A>C (p.Gln4236Pro)
c.12983A>C (p.Gln4328Pro)
c.12980A>C (p.Gln4327Pro)
c.12938A>C (p.Gln4313Pro)
c.12935A>C (p.Gln4312Pro)
c.12932A>C (p.Gln4311Pro)
c.12884A>C (p.Gln4295Pro)
c.12581A>C (p.Gln4194Pro)
c.13115A>C (p.Gln4372Pro)
c.13112A>C (p.Gln4371Pro)
c.13094A>C (p.Gln4365Pro)
c.13070A>C (p.Gln4357Pro)
c.13067A>C (p.Gln4356Pro)
c.13064A>C (p.Gln4355Pro)
c.13016A>C (p.Gln4339Pro)
c.13004A>C (p.Gln4335Pro)
c.12866A>C (p.Gln4289Pro)
c.12713A>C (p.Gln4238Pro)
Xg.53534614G>ACA413146570HUWE1c.12517C>T (p.Gln4173Ter)
c.12733C>T (p.Gln4245Ter)
c.3200C>T
n.46C>T
c.12706C>T (p.Gln4236Ter)
c.12982C>T (p.Gln4328Ter)
c.12979C>T (p.Gln4327Ter)
c.12937C>T (p.Gln4313Ter)
c.12934C>T (p.Gln4312Ter)
c.12931C>T (p.Gln4311Ter)
c.12883C>T (p.Gln4295Ter)
c.12580C>T (p.Gln4194Ter)
c.13114C>T (p.Gln4372Ter)
c.13111C>T (p.Gln4371Ter)
c.13093C>T (p.Gln4365Ter)
c.13069C>T (p.Gln4357Ter)
c.13066C>T (p.Gln4356Ter)
c.13063C>T (p.Gln4355Ter)
c.13015C>T (p.Gln4339Ter)
c.13003C>T (p.Gln4335Ter)
c.12865C>T (p.Gln4289Ter)
c.12712C>T (p.Gln4238Ter)
Xg.53534614G>CCA413146573HUWE1c.12517C>G (p.Gln4173Glu)
c.12733C>G (p.Gln4245Glu)
c.3200C>G
n.46C>G
c.12706C>G (p.Gln4236Glu)
c.12982C>G (p.Gln4328Glu)
c.12979C>G (p.Gln4327Glu)
c.12937C>G (p.Gln4313Glu)
c.12934C>G (p.Gln4312Glu)
c.12931C>G (p.Gln4311Glu)
c.12883C>G (p.Gln4295Glu)
c.12580C>G (p.Gln4194Glu)
c.13114C>G (p.Gln4372Glu)
c.13111C>G (p.Gln4371Glu)
c.13093C>G (p.Gln4365Glu)
c.13069C>G (p.Gln4357Glu)
c.13066C>G (p.Gln4356Glu)
c.13063C>G (p.Gln4355Glu)
c.13015C>G (p.Gln4339Glu)
c.13003C>G (p.Gln4335Glu)
c.12865C>G (p.Gln4289Glu)
c.12712C>G (p.Gln4238Glu)
Xg.53534614G>TCA413146576HUWE1c.12517C>A (p.Gln4173Lys)
c.12733C>A (p.Gln4245Lys)
c.3200C>A
n.46C>A
c.12706C>A (p.Gln4236Lys)
c.12982C>A (p.Gln4328Lys)
c.12979C>A (p.Gln4327Lys)
c.12937C>A (p.Gln4313Lys)
c.12934C>A (p.Gln4312Lys)
c.12931C>A (p.Gln4311Lys)
c.12883C>A (p.Gln4295Lys)
c.12580C>A (p.Gln4194Lys)
c.13114C>A (p.Gln4372Lys)
c.13111C>A (p.Gln4371Lys)
c.13093C>A (p.Gln4365Lys)
c.13069C>A (p.Gln4357Lys)
c.13066C>A (p.Gln4356Lys)
c.13063C>A (p.Gln4355Lys)
c.13015C>A (p.Gln4339Lys)
c.13003C>A (p.Gln4335Lys)
c.12865C>A (p.Gln4289Lys)
c.12712C>A (p.Gln4238Lys)
Xg.53534615C>ACA413146580HUWE1c.12516G>T (p.Glu4172Asp)
c.12732G>T (p.Glu4244Asp)
c.3199G>T
n.45G>T
c.12705G>T (p.Glu4235Asp)
c.12981G>T (p.Glu4327Asp)
c.12978G>T (p.Glu4326Asp)
c.12936G>T (p.Glu4312Asp)
c.12933G>T (p.Glu4311Asp)
c.12930G>T (p.Glu4310Asp)
c.12882G>T (p.Glu4294Asp)
c.12579G>T (p.Glu4193Asp)
c.13113G>T (p.Glu4371Asp)
c.13110G>T (p.Glu4370Asp)
c.13092G>T (p.Glu4364Asp)
c.13068G>T (p.Glu4356Asp)
c.13065G>T (p.Glu4355Asp)
c.13062G>T (p.Glu4354Asp)
c.13014G>T (p.Glu4338Asp)
c.13002G>T (p.Glu4334Asp)
c.12864G>T (p.Glu4288Asp)
c.12711G>T (p.Glu4237Asp)
Xg.53534615C=CA2429869115HUWE1c.12516G= (p.Glu4172=)
c.12732G= (p.Glu4244=)
c.3199G=
n.45G=
c.12705G= (p.Glu4235=)
c.12981G= (p.Glu4327=)
c.12978G= (p.Glu4326=)
c.12936G= (p.Glu4312=)
c.12933G= (p.Glu4311=)
c.12930G= (p.Glu4310=)
c.12882G= (p.Glu4294=)
c.12579G= (p.Glu4193=)
c.13113G= (p.Glu4371=)
c.13110G= (p.Glu4370=)
c.13092G= (p.Glu4364=)
c.13068G= (p.Glu4356=)
c.13065G= (p.Glu4355=)
c.13062G= (p.Glu4354=)
c.13014G= (p.Glu4338=)
c.13002G= (p.Glu4334=)
c.12864G= (p.Glu4288=)
c.12711G= (p.Glu4237=)
Xg.53534615C>GCA413146587HUWE1c.12516G>C (p.Glu4172Asp)
c.12732G>C (p.Glu4244Asp)
c.3199G>C
n.45G>C
c.12705G>C (p.Glu4235Asp)
c.12981G>C (p.Glu4327Asp)
c.12978G>C (p.Glu4326Asp)
c.12936G>C (p.Glu4312Asp)
c.12933G>C (p.Glu4311Asp)
c.12930G>C (p.Glu4310Asp)
c.12882G>C (p.Glu4294Asp)
c.12579G>C (p.Glu4193Asp)
c.13113G>C (p.Glu4371Asp)
c.13110G>C (p.Glu4370Asp)
c.13092G>C (p.Glu4364Asp)
c.13068G>C (p.Glu4356Asp)
c.13065G>C (p.Glu4355Asp)
c.13062G>C (p.Glu4354Asp)
c.13014G>C (p.Glu4338Asp)
c.13002G>C (p.Glu4334Asp)
c.12864G>C (p.Glu4288Asp)
c.12711G>C (p.Glu4237Asp)
 ClinVar dbSNP
Xg.53534615C>TCA516420611HUWE1c.12516G>A (p.Glu4172=)
c.12732G>A (p.Glu4244=)
c.3199G>A
n.45G>A
c.12705G>A (p.Glu4235=)
c.12981G>A (p.Glu4327=)
c.12978G>A (p.Glu4326=)
c.12936G>A (p.Glu4312=)
c.12933G>A (p.Glu4311=)
c.12930G>A (p.Glu4310=)
c.12882G>A (p.Glu4294=)
c.12579G>A (p.Glu4193=)
c.13113G>A (p.Glu4371=)
c.13110G>A (p.Glu4370=)
c.13092G>A (p.Glu4364=)
c.13068G>A (p.Glu4356=)
c.13065G>A (p.Glu4355=)
c.13062G>A (p.Glu4354=)
c.13014G>A (p.Glu4338=)
c.13002G>A (p.Glu4334=)
c.12864G>A (p.Glu4288=)
c.12711G>A (p.Glu4237=)
 dbSNP
Xg.53534616T>ACA413146590HUWE1c.12515A>T (p.Glu4172Val)
c.12731A>T (p.Glu4244Val)
c.3198A>T
n.44A>T
c.12704A>T (p.Glu4235Val)
c.12980A>T (p.Glu4327Val)
c.12977A>T (p.Glu4326Val)
c.12935A>T (p.Glu4312Val)
c.12932A>T (p.Glu4311Val)
c.12929A>T (p.Glu4310Val)
c.12881A>T (p.Glu4294Val)
c.12578A>T (p.Glu4193Val)
c.13112A>T (p.Glu4371Val)
c.13109A>T (p.Glu4370Val)
c.13091A>T (p.Glu4364Val)
c.13067A>T (p.Glu4356Val)
c.13064A>T (p.Glu4355Val)
c.13061A>T (p.Glu4354Val)
c.13013A>T (p.Glu4338Val)
c.13001A>T (p.Glu4334Val)
c.12863A>T (p.Glu4288Val)
c.12710A>T (p.Glu4237Val)
Xg.53534616T>CCA413146592HUWE1c.12515A>G (p.Glu4172Gly)
c.12731A>G (p.Glu4244Gly)
c.3198A>G
n.44A>G
c.12704A>G (p.Glu4235Gly)
c.12980A>G (p.Glu4327Gly)
c.12977A>G (p.Glu4326Gly)
c.12935A>G (p.Glu4312Gly)
c.12932A>G (p.Glu4311Gly)
c.12929A>G (p.Glu4310Gly)
c.12881A>G (p.Glu4294Gly)
c.12578A>G (p.Glu4193Gly)
c.13112A>G (p.Glu4371Gly)
c.13109A>G (p.Glu4370Gly)
c.13091A>G (p.Glu4364Gly)
c.13067A>G (p.Glu4356Gly)
c.13064A>G (p.Glu4355Gly)
c.13061A>G (p.Glu4354Gly)
c.13013A>G (p.Glu4338Gly)
c.13001A>G (p.Glu4334Gly)
c.12863A>G (p.Glu4288Gly)
c.12710A>G (p.Glu4237Gly)
Xg.53534616T>GCA413146593HUWE1c.12515A>C (p.Glu4172Ala)
c.12731A>C (p.Glu4244Ala)
c.3198A>C
n.44A>C
c.12704A>C (p.Glu4235Ala)
c.12980A>C (p.Glu4327Ala)
c.12977A>C (p.Glu4326Ala)
c.12935A>C (p.Glu4312Ala)
c.12932A>C (p.Glu4311Ala)
c.12929A>C (p.Glu4310Ala)
c.12881A>C (p.Glu4294Ala)
c.12578A>C (p.Glu4193Ala)
c.13112A>C (p.Glu4371Ala)
c.13109A>C (p.Glu4370Ala)
c.13091A>C (p.Glu4364Ala)
c.13067A>C (p.Glu4356Ala)
c.13064A>C (p.Glu4355Ala)
c.13061A>C (p.Glu4354Ala)
c.13013A>C (p.Glu4338Ala)
c.13001A>C (p.Glu4334Ala)
c.12863A>C (p.Glu4288Ala)
c.12710A>C (p.Glu4237Ala)
Xg.53534617C>ACA413146594HUWE1c.12514G>T (p.Glu4172Ter)
c.12730G>T (p.Glu4244Ter)
c.3197G>T
n.43G>T
c.12703G>T (p.Glu4235Ter)
c.12979G>T (p.Glu4327Ter)
c.12976G>T (p.Glu4326Ter)
c.12934G>T (p.Glu4312Ter)
c.12931G>T (p.Glu4311Ter)
c.12928G>T (p.Glu4310Ter)
c.12880G>T (p.Glu4294Ter)
c.12577G>T (p.Glu4193Ter)
c.13111G>T (p.Glu4371Ter)
c.13108G>T (p.Glu4370Ter)
c.13090G>T (p.Glu4364Ter)
c.13066G>T (p.Glu4356Ter)
c.13063G>T (p.Glu4355Ter)
c.13060G>T (p.Glu4354Ter)
c.13012G>T (p.Glu4338Ter)
c.13000G>T (p.Glu4334Ter)
c.12862G>T (p.Glu4288Ter)
c.12709G>T (p.Glu4237Ter)
Xg.53534617C>GCA413146595HUWE1c.12514G>C (p.Glu4172Gln)
c.12730G>C (p.Glu4244Gln)
c.3197G>C
n.43G>C
c.12703G>C (p.Glu4235Gln)
c.12979G>C (p.Glu4327Gln)
c.12976G>C (p.Glu4326Gln)
c.12934G>C (p.Glu4312Gln)
c.12931G>C (p.Glu4311Gln)
c.12928G>C (p.Glu4310Gln)
c.12880G>C (p.Glu4294Gln)
c.12577G>C (p.Glu4193Gln)
c.13111G>C (p.Glu4371Gln)
c.13108G>C (p.Glu4370Gln)
c.13090G>C (p.Glu4364Gln)
c.13066G>C (p.Glu4356Gln)
c.13063G>C (p.Glu4355Gln)
c.13060G>C (p.Glu4354Gln)
c.13012G>C (p.Glu4338Gln)
c.13000G>C (p.Glu4334Gln)
c.12862G>C (p.Glu4288Gln)
c.12709G>C (p.Glu4237Gln)
Xg.53534617C>TCA413146596HUWE1c.12514G>A (p.Glu4172Lys)
c.12730G>A (p.Glu4244Lys)
c.3197G>A
n.43G>A
c.12703G>A (p.Glu4235Lys)
c.12979G>A (p.Glu4327Lys)
c.12976G>A (p.Glu4326Lys)
c.12934G>A (p.Glu4312Lys)
c.12931G>A (p.Glu4311Lys)
c.12928G>A (p.Glu4310Lys)
c.12880G>A (p.Glu4294Lys)
c.12577G>A (p.Glu4193Lys)
c.13111G>A (p.Glu4371Lys)
c.13108G>A (p.Glu4370Lys)
c.13090G>A (p.Glu4364Lys)
c.13066G>A (p.Glu4356Lys)
c.13063G>A (p.Glu4355Lys)
c.13060G>A (p.Glu4354Lys)
c.13012G>A (p.Glu4338Lys)
c.13000G>A (p.Glu4334Lys)
c.12862G>A (p.Glu4288Lys)
c.12709G>A (p.Glu4237Lys)
Xg.53534618A>CCA516420622HUWE1c.12513T>G (p.Thr4171=)
c.12729T>G (p.Thr4243=)
c.3196T>G
n.42T>G
c.12702T>G (p.Thr4234=)
c.12978T>G (p.Thr4326=)
c.12975T>G (p.Thr4325=)
c.12933T>G (p.Thr4311=)
c.12930T>G (p.Thr4310=)
c.12927T>G (p.Thr4309=)
c.12879T>G (p.Thr4293=)
c.12576T>G (p.Thr4192=)
c.13110T>G (p.Thr4370=)
c.13107T>G (p.Thr4369=)
c.13089T>G (p.Thr4363=)
c.13065T>G (p.Thr4355=)
c.13062T>G (p.Thr4354=)
c.13059T>G (p.Thr4353=)
c.13011T>G (p.Thr4337=)
c.12999T>G (p.Thr4333=)
c.12861T>G (p.Thr4287=)
c.12708T>G (p.Thr4236=)
Xg.53534618A>GCA516420628HUWE1c.12513T>C (p.Thr4171=)
c.12729T>C (p.Thr4243=)
c.3196T>C
n.42T>C
c.12702T>C (p.Thr4234=)
c.12978T>C (p.Thr4326=)
c.12975T>C (p.Thr4325=)
c.12933T>C (p.Thr4311=)
c.12930T>C (p.Thr4310=)
c.12927T>C (p.Thr4309=)
c.12879T>C (p.Thr4293=)
c.12576T>C (p.Thr4192=)
c.13110T>C (p.Thr4370=)
c.13107T>C (p.Thr4369=)
c.13089T>C (p.Thr4363=)
c.13065T>C (p.Thr4355=)
c.13062T>C (p.Thr4354=)
c.13059T>C (p.Thr4353=)
c.13011T>C (p.Thr4337=)
c.12999T>C (p.Thr4333=)
c.12861T>C (p.Thr4287=)
c.12708T>C (p.Thr4236=)
Xg.53534618A>TCA516420630HUWE1c.12513T>A (p.Thr4171=)
c.12729T>A (p.Thr4243=)
c.3196T>A
n.42T>A
c.12702T>A (p.Thr4234=)
c.12978T>A (p.Thr4326=)
c.12975T>A (p.Thr4325=)
c.12933T>A (p.Thr4311=)
c.12930T>A (p.Thr4310=)
c.12927T>A (p.Thr4309=)
c.12879T>A (p.Thr4293=)
c.12576T>A (p.Thr4192=)
c.13110T>A (p.Thr4370=)
c.13107T>A (p.Thr4369=)
c.13089T>A (p.Thr4363=)
c.13065T>A (p.Thr4355=)
c.13062T>A (p.Thr4354=)
c.13059T>A (p.Thr4353=)
c.13011T>A (p.Thr4337=)
c.12999T>A (p.Thr4333=)
c.12861T>A (p.Thr4287=)
c.12708T>A (p.Thr4236=)
Xg.53534619G>ACA413146598HUWE1c.12512C>T (p.Thr4171Ile)
c.12728C>T (p.Thr4243Ile)
c.3195C>T
n.41C>T
c.12701C>T (p.Thr4234Ile)
c.12977C>T (p.Thr4326Ile)
c.12974C>T (p.Thr4325Ile)
c.12932C>T (p.Thr4311Ile)
c.12929C>T (p.Thr4310Ile)
c.12926C>T (p.Thr4309Ile)
c.12878C>T (p.Thr4293Ile)
c.12575C>T (p.Thr4192Ile)
c.13109C>T (p.Thr4370Ile)
c.13106C>T (p.Thr4369Ile)
c.13088C>T (p.Thr4363Ile)
c.13064C>T (p.Thr4355Ile)
c.13061C>T (p.Thr4354Ile)
c.13058C>T (p.Thr4353Ile)
c.13010C>T (p.Thr4337Ile)
c.12998C>T (p.Thr4333Ile)
c.12860C>T (p.Thr4287Ile)
c.12707C>T (p.Thr4236Ile)
Xg.53534619G>CCA413146600HUWE1c.12512C>G (p.Thr4171Ser)
c.12728C>G (p.Thr4243Ser)
c.3195C>G
n.41C>G
c.12701C>G (p.Thr4234Ser)
c.12977C>G (p.Thr4326Ser)
c.12974C>G (p.Thr4325Ser)
c.12932C>G (p.Thr4311Ser)
c.12929C>G (p.Thr4310Ser)
c.12926C>G (p.Thr4309Ser)
c.12878C>G (p.Thr4293Ser)
c.12575C>G (p.Thr4192Ser)
c.13109C>G (p.Thr4370Ser)
c.13106C>G (p.Thr4369Ser)
c.13088C>G (p.Thr4363Ser)
c.13064C>G (p.Thr4355Ser)
c.13061C>G (p.Thr4354Ser)
c.13058C>G (p.Thr4353Ser)
c.13010C>G (p.Thr4337Ser)
c.12998C>G (p.Thr4333Ser)
c.12860C>G (p.Thr4287Ser)
c.12707C>G (p.Thr4236Ser)
Xg.53534619G>TCA413146602HUWE1c.12512C>A (p.Thr4171Asn)
c.12728C>A (p.Thr4243Asn)
c.3195C>A
n.41C>A
c.12701C>A (p.Thr4234Asn)
c.12977C>A (p.Thr4326Asn)
c.12974C>A (p.Thr4325Asn)
c.12932C>A (p.Thr4311Asn)
c.12929C>A (p.Thr4310Asn)
c.12926C>A (p.Thr4309Asn)
c.12878C>A (p.Thr4293Asn)
c.12575C>A (p.Thr4192Asn)
c.13109C>A (p.Thr4370Asn)
c.13106C>A (p.Thr4369Asn)
c.13088C>A (p.Thr4363Asn)
c.13064C>A (p.Thr4355Asn)
c.13061C>A (p.Thr4354Asn)
c.13058C>A (p.Thr4353Asn)
c.13010C>A (p.Thr4337Asn)
c.12998C>A (p.Thr4333Asn)
c.12860C>A (p.Thr4287Asn)
c.12707C>A (p.Thr4236Asn)
Xg.53534620T>ACA413146607HUWE1c.12511A>T (p.Thr4171Ser)
c.12727A>T (p.Thr4243Ser)
c.3194A>T
n.40A>T
c.12700A>T (p.Thr4234Ser)
c.12976A>T (p.Thr4326Ser)
c.12973A>T (p.Thr4325Ser)
c.12931A>T (p.Thr4311Ser)
c.12928A>T (p.Thr4310Ser)
c.12925A>T (p.Thr4309Ser)
c.12877A>T (p.Thr4293Ser)
c.12574A>T (p.Thr4192Ser)
c.13108A>T (p.Thr4370Ser)
c.13105A>T (p.Thr4369Ser)
c.13087A>T (p.Thr4363Ser)
c.13063A>T (p.Thr4355Ser)
c.13060A>T (p.Thr4354Ser)
c.13057A>T (p.Thr4353Ser)
c.13009A>T (p.Thr4337Ser)
c.12997A>T (p.Thr4333Ser)
c.12859A>T (p.Thr4287Ser)
c.12706A>T (p.Thr4236Ser)
Xg.53534620T>CCA413146609HUWE1c.12511A>G (p.Thr4171Ala)
c.12727A>G (p.Thr4243Ala)
c.3194A>G
n.40A>G
c.12700A>G (p.Thr4234Ala)
c.12976A>G (p.Thr4326Ala)
c.12973A>G (p.Thr4325Ala)
c.12931A>G (p.Thr4311Ala)
c.12928A>G (p.Thr4310Ala)
c.12925A>G (p.Thr4309Ala)
c.12877A>G (p.Thr4293Ala)
c.12574A>G (p.Thr4192Ala)
c.13108A>G (p.Thr4370Ala)
c.13105A>G (p.Thr4369Ala)
c.13087A>G (p.Thr4363Ala)
c.13063A>G (p.Thr4355Ala)
c.13060A>G (p.Thr4354Ala)
c.13057A>G (p.Thr4353Ala)
c.13009A>G (p.Thr4337Ala)
c.12997A>G (p.Thr4333Ala)
c.12859A>G (p.Thr4287Ala)
c.12706A>G (p.Thr4236Ala)
Xg.53534620T>GCA413146612HUWE1c.12511A>C (p.Thr4171Pro)
c.12727A>C (p.Thr4243Pro)
c.3194A>C
n.40A>C
c.12700A>C (p.Thr4234Pro)
c.12976A>C (p.Thr4326Pro)
c.12973A>C (p.Thr4325Pro)
c.12931A>C (p.Thr4311Pro)
c.12928A>C (p.Thr4310Pro)
c.12925A>C (p.Thr4309Pro)
c.12877A>C (p.Thr4293Pro)
c.12574A>C (p.Thr4192Pro)
c.13108A>C (p.Thr4370Pro)
c.13105A>C (p.Thr4369Pro)
c.13087A>C (p.Thr4363Pro)
c.13063A>C (p.Thr4355Pro)
c.13060A>C (p.Thr4354Pro)
c.13057A>C (p.Thr4353Pro)
c.13009A>C (p.Thr4337Pro)
c.12997A>C (p.Thr4333Pro)
c.12859A>C (p.Thr4287Pro)
c.12706A>C (p.Thr4236Pro)
Xg.53534621G>ACA516420638HUWE1c.12510C>T (p.Phe4170=)
c.12726C>T (p.Phe4242=)
c.3193C>T
n.39C>T
c.12699C>T (p.Phe4233=)
c.12975C>T (p.Phe4325=)
c.12972C>T (p.Phe4324=)
c.12930C>T (p.Phe4310=)
c.12927C>T (p.Phe4309=)
c.12924C>T (p.Phe4308=)
c.12876C>T (p.Phe4292=)
c.12573C>T (p.Phe4191=)
c.13107C>T (p.Phe4369=)
c.13104C>T (p.Phe4368=)
c.13086C>T (p.Phe4362=)
c.13062C>T (p.Phe4354=)
c.13059C>T (p.Phe4353=)
c.13056C>T (p.Phe4352=)
c.13008C>T (p.Phe4336=)
c.12996C>T (p.Phe4332=)
c.12858C>T (p.Phe4286=)
c.12705C>T (p.Phe4235=)
Xg.53534621G>CCA413146615HUWE1c.12510C>G (p.Phe4170Leu)
c.12726C>G (p.Phe4242Leu)
c.3193C>G
n.39C>G
c.12699C>G (p.Phe4233Leu)
c.12975C>G (p.Phe4325Leu)
c.12972C>G (p.Phe4324Leu)
c.12930C>G (p.Phe4310Leu)
c.12927C>G (p.Phe4309Leu)
c.12924C>G (p.Phe4308Leu)
c.12876C>G (p.Phe4292Leu)
c.12573C>G (p.Phe4191Leu)
c.13107C>G (p.Phe4369Leu)
c.13104C>G (p.Phe4368Leu)
c.13086C>G (p.Phe4362Leu)
c.13062C>G (p.Phe4354Leu)
c.13059C>G (p.Phe4353Leu)
c.13056C>G (p.Phe4352Leu)
c.13008C>G (p.Phe4336Leu)
c.12996C>G (p.Phe4332Leu)
c.12858C>G (p.Phe4286Leu)
c.12705C>G (p.Phe4235Leu)
Xg.53534621G>TCA413146617HUWE1c.12510C>A (p.Phe4170Leu)
c.12726C>A (p.Phe4242Leu)
c.3193C>A
n.39C>A
c.12699C>A (p.Phe4233Leu)
c.12975C>A (p.Phe4325Leu)
c.12972C>A (p.Phe4324Leu)
c.12930C>A (p.Phe4310Leu)
c.12927C>A (p.Phe4309Leu)
c.12924C>A (p.Phe4308Leu)
c.12876C>A (p.Phe4292Leu)
c.12573C>A (p.Phe4191Leu)
c.13107C>A (p.Phe4369Leu)
c.13104C>A (p.Phe4368Leu)
c.13086C>A (p.Phe4362Leu)
c.13062C>A (p.Phe4354Leu)
c.13059C>A (p.Phe4353Leu)
c.13056C>A (p.Phe4352Leu)
c.13008C>A (p.Phe4336Leu)
c.12996C>A (p.Phe4332Leu)
c.12858C>A (p.Phe4286Leu)
c.12705C>A (p.Phe4235Leu)
Xg.53534622A>CCA413146625HUWE1c.12509T>G (p.Phe4170Cys)
c.12725T>G (p.Phe4242Cys)
c.3192T>G
n.38T>G
c.12698T>G (p.Phe4233Cys)
c.12974T>G (p.Phe4325Cys)
c.12971T>G (p.Phe4324Cys)
c.12929T>G (p.Phe4310Cys)
c.12926T>G (p.Phe4309Cys)
c.12923T>G (p.Phe4308Cys)
c.12875T>G (p.Phe4292Cys)
c.12572T>G (p.Phe4191Cys)
c.13106T>G (p.Phe4369Cys)
c.13103T>G (p.Phe4368Cys)
c.13085T>G (p.Phe4362Cys)
c.13061T>G (p.Phe4354Cys)
c.13058T>G (p.Phe4353Cys)
c.13055T>G (p.Phe4352Cys)
c.13007T>G (p.Phe4336Cys)
c.12995T>G (p.Phe4332Cys)
c.12857T>G (p.Phe4286Cys)
c.12704T>G (p.Phe4235Cys)
Xg.53534622A>GCA413146624HUWE1c.12509T>C (p.Phe4170Ser)
c.12725T>C (p.Phe4242Ser)
c.3192T>C
n.38T>C
c.12698T>C (p.Phe4233Ser)
c.12974T>C (p.Phe4325Ser)
c.12971T>C (p.Phe4324Ser)
c.12929T>C (p.Phe4310Ser)
c.12926T>C (p.Phe4309Ser)
c.12923T>C (p.Phe4308Ser)
c.12875T>C (p.Phe4292Ser)
c.12572T>C (p.Phe4191Ser)
c.13106T>C (p.Phe4369Ser)
c.13103T>C (p.Phe4368Ser)
c.13085T>C (p.Phe4362Ser)
c.13061T>C (p.Phe4354Ser)
c.13058T>C (p.Phe4353Ser)
c.13055T>C (p.Phe4352Ser)
c.13007T>C (p.Phe4336Ser)
c.12995T>C (p.Phe4332Ser)
c.12857T>C (p.Phe4286Ser)
c.12704T>C (p.Phe4235Ser)
Xg.53534622A>TCA413146620HUWE1c.12509T>A (p.Phe4170Tyr)
c.12725T>A (p.Phe4242Tyr)
c.3192T>A
n.38T>A
c.12698T>A (p.Phe4233Tyr)
c.12974T>A (p.Phe4325Tyr)
c.12971T>A (p.Phe4324Tyr)
c.12929T>A (p.Phe4310Tyr)
c.12926T>A (p.Phe4309Tyr)
c.12923T>A (p.Phe4308Tyr)
c.12875T>A (p.Phe4292Tyr)
c.12572T>A (p.Phe4191Tyr)
c.13106T>A (p.Phe4369Tyr)
c.13103T>A (p.Phe4368Tyr)
c.13085T>A (p.Phe4362Tyr)
c.13061T>A (p.Phe4354Tyr)
c.13058T>A (p.Phe4353Tyr)
c.13055T>A (p.Phe4352Tyr)
c.13007T>A (p.Phe4336Tyr)
c.12995T>A (p.Phe4332Tyr)
c.12857T>A (p.Phe4286Tyr)
c.12704T>A (p.Phe4235Tyr)
Xg.53534623A>CCA413146629HUWE1c.12508T>G (p.Phe4170Val)
c.12724T>G (p.Phe4242Val)
c.3191T>G
n.37T>G
c.12697T>G (p.Phe4233Val)
c.12973T>G (p.Phe4325Val)
c.12970T>G (p.Phe4324Val)
c.12928T>G (p.Phe4310Val)
c.12925T>G (p.Phe4309Val)
c.12922T>G (p.Phe4308Val)
c.12874T>G (p.Phe4292Val)
c.12571T>G (p.Phe4191Val)
c.13105T>G (p.Phe4369Val)
c.13102T>G (p.Phe4368Val)
c.13084T>G (p.Phe4362Val)
c.13060T>G (p.Phe4354Val)
c.13057T>G (p.Phe4353Val)
c.13054T>G (p.Phe4352Val)
c.13006T>G (p.Phe4336Val)
c.12994T>G (p.Phe4332Val)
c.12856T>G (p.Phe4286Val)
c.12703T>G (p.Phe4235Val)
Xg.53534623A>GCA413146631HUWE1c.12508T>C (p.Phe4170Leu)
c.12724T>C (p.Phe4242Leu)
c.3191T>C
n.37T>C
c.12697T>C (p.Phe4233Leu)
c.12973T>C (p.Phe4325Leu)
c.12970T>C (p.Phe4324Leu)
c.12928T>C (p.Phe4310Leu)
c.12925T>C (p.Phe4309Leu)
c.12922T>C (p.Phe4308Leu)
c.12874T>C (p.Phe4292Leu)
c.12571T>C (p.Phe4191Leu)
c.13105T>C (p.Phe4369Leu)
c.13102T>C (p.Phe4368Leu)
c.13084T>C (p.Phe4362Leu)
c.13060T>C (p.Phe4354Leu)
c.13057T>C (p.Phe4353Leu)
c.13054T>C (p.Phe4352Leu)
c.13006T>C (p.Phe4336Leu)
c.12994T>C (p.Phe4332Leu)
c.12856T>C (p.Phe4286Leu)
c.12703T>C (p.Phe4235Leu)
Xg.53534623A>TCA413146634HUWE1c.12508T>A (p.Phe4170Ile)
c.12724T>A (p.Phe4242Ile)
c.3191T>A
n.37T>A
c.12697T>A (p.Phe4233Ile)
c.12973T>A (p.Phe4325Ile)
c.12970T>A (p.Phe4324Ile)
c.12928T>A (p.Phe4310Ile)
c.12925T>A (p.Phe4309Ile)
c.12922T>A (p.Phe4308Ile)
c.12874T>A (p.Phe4292Ile)
c.12571T>A (p.Phe4191Ile)
c.13105T>A (p.Phe4369Ile)
c.13102T>A (p.Phe4368Ile)
c.13084T>A (p.Phe4362Ile)
c.13060T>A (p.Phe4354Ile)
c.13057T>A (p.Phe4353Ile)
c.13054T>A (p.Phe4352Ile)
c.13006T>A (p.Phe4336Ile)
c.12994T>A (p.Phe4332Ile)
c.12856T>A (p.Phe4286Ile)
c.12703T>A (p.Phe4235Ile)
Xg.53534624G>ACA516420650HUWE1c.12507C>T (p.Ile4169=)
c.12723C>T (p.Ile4241=)
c.3190C>T
n.36C>T
c.12696C>T (p.Ile4232=)
c.12972C>T (p.Ile4324=)
c.12969C>T (p.Ile4323=)
c.12927C>T (p.Ile4309=)
c.12924C>T (p.Ile4308=)
c.12921C>T (p.Ile4307=)
c.12873C>T (p.Ile4291=)
c.12570C>T (p.Ile4190=)
c.13104C>T (p.Ile4368=)
c.13101C>T (p.Ile4367=)
c.13083C>T (p.Ile4361=)
c.13059C>T (p.Ile4353=)
c.13056C>T (p.Ile4352=)
c.13053C>T (p.Ile4351=)
c.13005C>T (p.Ile4335=)
c.12993C>T (p.Ile4331=)
c.12855C>T (p.Ile4285=)
c.12702C>T (p.Ile4234=)
Xg.53534624G>CCA413146637HUWE1c.12507C>G (p.Ile4169Met)
c.12723C>G (p.Ile4241Met)
c.3190C>G
n.36C>G
c.12696C>G (p.Ile4232Met)
c.12972C>G (p.Ile4324Met)
c.12969C>G (p.Ile4323Met)
c.12927C>G (p.Ile4309Met)
c.12924C>G (p.Ile4308Met)
c.12921C>G (p.Ile4307Met)
c.12873C>G (p.Ile4291Met)
c.12570C>G (p.Ile4190Met)
c.13104C>G (p.Ile4368Met)
c.13101C>G (p.Ile4367Met)
c.13083C>G (p.Ile4361Met)
c.13059C>G (p.Ile4353Met)
c.13056C>G (p.Ile4352Met)
c.13053C>G (p.Ile4351Met)
c.13005C>G (p.Ile4335Met)
c.12993C>G (p.Ile4331Met)
c.12855C>G (p.Ile4285Met)
c.12702C>G (p.Ile4234Met)
Xg.53534624G>TCA516420647HUWE1c.12507C>A (p.Ile4169=)
c.12723C>A (p.Ile4241=)
c.3190C>A
n.36C>A
c.12696C>A (p.Ile4232=)
c.12972C>A (p.Ile4324=)
c.12969C>A (p.Ile4323=)
c.12927C>A (p.Ile4309=)
c.12924C>A (p.Ile4308=)
c.12921C>A (p.Ile4307=)
c.12873C>A (p.Ile4291=)
c.12570C>A (p.Ile4190=)
c.13104C>A (p.Ile4368=)
c.13101C>A (p.Ile4367=)
c.13083C>A (p.Ile4361=)
c.13059C>A (p.Ile4353=)
c.13056C>A (p.Ile4352=)
c.13053C>A (p.Ile4351=)
c.13005C>A (p.Ile4335=)
c.12993C>A (p.Ile4331=)
c.12855C>A (p.Ile4285=)
c.12702C>A (p.Ile4234=)
Xg.53534625A>CCA413146640HUWE1c.12506T>G (p.Ile4169Ser)
c.12722T>G (p.Ile4241Ser)
c.3189T>G
n.35T>G
c.12695T>G (p.Ile4232Ser)
c.12971T>G (p.Ile4324Ser)
c.12968T>G (p.Ile4323Ser)
c.12926T>G (p.Ile4309Ser)
c.12923T>G (p.Ile4308Ser)
c.12920T>G (p.Ile4307Ser)
c.12872T>G (p.Ile4291Ser)
c.12569T>G (p.Ile4190Ser)
c.13103T>G (p.Ile4368Ser)
c.13100T>G (p.Ile4367Ser)
c.13082T>G (p.Ile4361Ser)
c.13058T>G (p.Ile4353Ser)
c.13055T>G (p.Ile4352Ser)
c.13052T>G (p.Ile4351Ser)
c.13004T>G (p.Ile4335Ser)
c.12992T>G (p.Ile4331Ser)
c.12854T>G (p.Ile4285Ser)
c.12701T>G (p.Ile4234Ser)
Xg.53534625A>GCA413146643HUWE1c.12506T>C (p.Ile4169Thr)
c.12722T>C (p.Ile4241Thr)
c.3189T>C
n.35T>C
c.12695T>C (p.Ile4232Thr)
c.12971T>C (p.Ile4324Thr)
c.12968T>C (p.Ile4323Thr)
c.12926T>C (p.Ile4309Thr)
c.12923T>C (p.Ile4308Thr)
c.12920T>C (p.Ile4307Thr)
c.12872T>C (p.Ile4291Thr)
c.12569T>C (p.Ile4190Thr)
c.13103T>C (p.Ile4368Thr)
c.13100T>C (p.Ile4367Thr)
c.13082T>C (p.Ile4361Thr)
c.13058T>C (p.Ile4353Thr)
c.13055T>C (p.Ile4352Thr)
c.13052T>C (p.Ile4351Thr)
c.13004T>C (p.Ile4335Thr)
c.12992T>C (p.Ile4331Thr)
c.12854T>C (p.Ile4285Thr)
c.12701T>C (p.Ile4234Thr)
Xg.53534625A>TCA413146647HUWE1c.12506T>A (p.Ile4169Asn)
c.12722T>A (p.Ile4241Asn)
c.3189T>A
n.35T>A
c.12695T>A (p.Ile4232Asn)
c.12971T>A (p.Ile4324Asn)
c.12968T>A (p.Ile4323Asn)
c.12926T>A (p.Ile4309Asn)
c.12923T>A (p.Ile4308Asn)
c.12920T>A (p.Ile4307Asn)
c.12872T>A (p.Ile4291Asn)
c.12569T>A (p.Ile4190Asn)
c.13103T>A (p.Ile4368Asn)
c.13100T>A (p.Ile4367Asn)
c.13082T>A (p.Ile4361Asn)
c.13058T>A (p.Ile4353Asn)
c.13055T>A (p.Ile4352Asn)
c.13052T>A (p.Ile4351Asn)
c.13004T>A (p.Ile4335Asn)
c.12992T>A (p.Ile4331Asn)
c.12854T>A (p.Ile4285Asn)
c.12701T>A (p.Ile4234Asn)
Xg.53534626T>ACA413146650HUWE1c.12505A>T (p.Ile4169Phe)
c.12721A>T (p.Ile4241Phe)
c.3188A>T
n.34A>T
c.12694A>T (p.Ile4232Phe)
c.12970A>T (p.Ile4324Phe)
c.12967A>T (p.Ile4323Phe)
c.12925A>T (p.Ile4309Phe)
c.12922A>T (p.Ile4308Phe)
c.12919A>T (p.Ile4307Phe)
c.12871A>T (p.Ile4291Phe)
c.12568A>T (p.Ile4190Phe)
c.13102A>T (p.Ile4368Phe)
c.13099A>T (p.Ile4367Phe)
c.13081A>T (p.Ile4361Phe)
c.13057A>T (p.Ile4353Phe)
c.13054A>T (p.Ile4352Phe)
c.13051A>T (p.Ile4351Phe)
c.13003A>T (p.Ile4335Phe)
c.12991A>T (p.Ile4331Phe)
c.12853A>T (p.Ile4285Phe)
c.12700A>T (p.Ile4234Phe)
Xg.53534626T>CCA413146652HUWE1c.12505A>G (p.Ile4169Val)
c.12721A>G (p.Ile4241Val)
c.3188A>G
n.34A>G
c.12694A>G (p.Ile4232Val)
c.12970A>G (p.Ile4324Val)
c.12967A>G (p.Ile4323Val)
c.12925A>G (p.Ile4309Val)
c.12922A>G (p.Ile4308Val)
c.12919A>G (p.Ile4307Val)
c.12871A>G (p.Ile4291Val)
c.12568A>G (p.Ile4190Val)
c.13102A>G (p.Ile4368Val)
c.13099A>G (p.Ile4367Val)
c.13081A>G (p.Ile4361Val)
c.13057A>G (p.Ile4353Val)
c.13054A>G (p.Ile4352Val)
c.13051A>G (p.Ile4351Val)
c.13003A>G (p.Ile4335Val)
c.12991A>G (p.Ile4331Val)
c.12853A>G (p.Ile4285Val)
c.12700A>G (p.Ile4234Val)
 gnomAD v4
Xg.53534626T>GCA413146657HUWE1c.12505A>C (p.Ile4169Leu)
c.12721A>C (p.Ile4241Leu)
c.3188A>C
n.34A>C
c.12694A>C (p.Ile4232Leu)
c.12970A>C (p.Ile4324Leu)
c.12967A>C (p.Ile4323Leu)
c.12925A>C (p.Ile4309Leu)
c.12922A>C (p.Ile4308Leu)
c.12919A>C (p.Ile4307Leu)
c.12871A>C (p.Ile4291Leu)
c.12568A>C (p.Ile4190Leu)
c.13102A>C (p.Ile4368Leu)
c.13099A>C (p.Ile4367Leu)
c.13081A>C (p.Ile4361Leu)
c.13057A>C (p.Ile4353Leu)
c.13054A>C (p.Ile4352Leu)
c.13051A>C (p.Ile4351Leu)
c.13003A>C (p.Ile4335Leu)
c.12991A>C (p.Ile4331Leu)
c.12853A>C (p.Ile4285Leu)
c.12700A>C (p.Ile4234Leu)
Xg.53534627G>ACA516420665HUWE1c.12504C>T (p.Ser4168=)
c.12720C>T (p.Ser4240=)
c.3187C>T
n.33C>T
c.12693C>T (p.Ser4231=)
c.12969C>T (p.Ser4323=)
c.12966C>T (p.Ser4322=)
c.12924C>T (p.Ser4308=)
c.12921C>T (p.Ser4307=)
c.12918C>T (p.Ser4306=)
c.12870C>T (p.Ser4290=)
c.12567C>T (p.Ser4189=)
c.13101C>T (p.Ser4367=)
c.13098C>T (p.Ser4366=)
c.13080C>T (p.Ser4360=)
c.13056C>T (p.Ser4352=)
c.13053C>T (p.Ser4351=)
c.13050C>T (p.Ser4350=)
c.13002C>T (p.Ser4334=)
c.12990C>T (p.Ser4330=)
c.12852C>T (p.Ser4284=)
c.12699C>T (p.Ser4233=)
Xg.53534627G>CCA10421148HUWE1c.12504C>G (p.Ser4168=)
c.12720C>G (p.Ser4240=)
c.3187C>G
n.33C>G
c.12693C>G (p.Ser4231=)
c.12969C>G (p.Ser4323=)
c.12966C>G (p.Ser4322=)
c.12924C>G (p.Ser4308=)
c.12921C>G (p.Ser4307=)
c.12918C>G (p.Ser4306=)
c.12870C>G (p.Ser4290=)
c.12567C>G (p.Ser4189=)
c.13101C>G (p.Ser4367=)
c.13098C>G (p.Ser4366=)
c.13080C>G (p.Ser4360=)
c.13056C>G (p.Ser4352=)
c.13053C>G (p.Ser4351=)
c.13050C>G (p.Ser4350=)
c.13002C>G (p.Ser4334=)
c.12990C>G (p.Ser4330=)
c.12852C>G (p.Ser4284=)
c.12699C>G (p.Ser4233=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534627G=CA2429869116HUWE1c.12504C= (p.Ser4168=)
c.12720C= (p.Ser4240=)
c.3187C=
n.33C=
c.12693C= (p.Ser4231=)
c.12969C= (p.Ser4323=)
c.12966C= (p.Ser4322=)
c.12924C= (p.Ser4308=)
c.12921C= (p.Ser4307=)
c.12918C= (p.Ser4306=)
c.12870C= (p.Ser4290=)
c.12567C= (p.Ser4189=)
c.13101C= (p.Ser4367=)
c.13098C= (p.Ser4366=)
c.13080C= (p.Ser4360=)
c.13056C= (p.Ser4352=)
c.13053C= (p.Ser4351=)
c.13050C= (p.Ser4350=)
c.13002C= (p.Ser4334=)
c.12990C= (p.Ser4330=)
c.12852C= (p.Ser4284=)
c.12699C= (p.Ser4233=)
Xg.53534627G>TCA516420670HUWE1c.12504C>A (p.Ser4168=)
c.12720C>A (p.Ser4240=)
c.3187C>A
n.33C>A
c.12693C>A (p.Ser4231=)
c.12969C>A (p.Ser4323=)
c.12966C>A (p.Ser4322=)
c.12924C>A (p.Ser4308=)
c.12921C>A (p.Ser4307=)
c.12918C>A (p.Ser4306=)
c.12870C>A (p.Ser4290=)
c.12567C>A (p.Ser4189=)
c.13101C>A (p.Ser4367=)
c.13098C>A (p.Ser4366=)
c.13080C>A (p.Ser4360=)
c.13056C>A (p.Ser4352=)
c.13053C>A (p.Ser4351=)
c.13050C>A (p.Ser4350=)
c.13002C>A (p.Ser4334=)
c.12990C>A (p.Ser4330=)
c.12852C>A (p.Ser4284=)
c.12699C>A (p.Ser4233=)
Xg.53534628G>ACA413146666HUWE1c.12503C>T (p.Ser4168Phe)
c.12719C>T (p.Ser4240Phe)
c.3186C>T
n.32C>T
c.12692C>T (p.Ser4231Phe)
c.12968C>T (p.Ser4323Phe)
c.12965C>T (p.Ser4322Phe)
c.12923C>T (p.Ser4308Phe)
c.12920C>T (p.Ser4307Phe)
c.12917C>T (p.Ser4306Phe)
c.12869C>T (p.Ser4290Phe)
c.12566C>T (p.Ser4189Phe)
c.13100C>T (p.Ser4367Phe)
c.13097C>T (p.Ser4366Phe)
c.13079C>T (p.Ser4360Phe)
c.13055C>T (p.Ser4352Phe)
c.13052C>T (p.Ser4351Phe)
c.13049C>T (p.Ser4350Phe)
c.13001C>T (p.Ser4334Phe)
c.12989C>T (p.Ser4330Phe)
c.12851C>T (p.Ser4284Phe)
c.12698C>T (p.Ser4233Phe)
 ClinVar
Xg.53534628G>CCA413146667HUWE1c.12503C>G (p.Ser4168Cys)
c.12719C>G (p.Ser4240Cys)
c.3186C>G
n.32C>G
c.12692C>G (p.Ser4231Cys)
c.12968C>G (p.Ser4323Cys)
c.12965C>G (p.Ser4322Cys)
c.12923C>G (p.Ser4308Cys)
c.12920C>G (p.Ser4307Cys)
c.12917C>G (p.Ser4306Cys)
c.12869C>G (p.Ser4290Cys)
c.12566C>G (p.Ser4189Cys)
c.13100C>G (p.Ser4367Cys)
c.13097C>G (p.Ser4366Cys)
c.13079C>G (p.Ser4360Cys)
c.13055C>G (p.Ser4352Cys)
c.13052C>G (p.Ser4351Cys)
c.13049C>G (p.Ser4350Cys)
c.13001C>G (p.Ser4334Cys)
c.12989C>G (p.Ser4330Cys)
c.12851C>G (p.Ser4284Cys)
c.12698C>G (p.Ser4233Cys)
Xg.53534628G>TCA413146670HUWE1c.12503C>A (p.Ser4168Tyr)
c.12719C>A (p.Ser4240Tyr)
c.3186C>A
n.32C>A
c.12692C>A (p.Ser4231Tyr)
c.12968C>A (p.Ser4323Tyr)
c.12965C>A (p.Ser4322Tyr)
c.12923C>A (p.Ser4308Tyr)
c.12920C>A (p.Ser4307Tyr)
c.12917C>A (p.Ser4306Tyr)
c.12869C>A (p.Ser4290Tyr)
c.12566C>A (p.Ser4189Tyr)
c.13100C>A (p.Ser4367Tyr)
c.13097C>A (p.Ser4366Tyr)
c.13079C>A (p.Ser4360Tyr)
c.13055C>A (p.Ser4352Tyr)
c.13052C>A (p.Ser4351Tyr)
c.13049C>A (p.Ser4350Tyr)
c.13001C>A (p.Ser4334Tyr)
c.12989C>A (p.Ser4330Tyr)
c.12851C>A (p.Ser4284Tyr)
c.12698C>A (p.Ser4233Tyr)
Xg.53534629A>CCA413146676HUWE1c.12502T>G (p.Ser4168Ala)
c.12718T>G (p.Ser4240Ala)
c.3185T>G
n.31T>G
c.12691T>G (p.Ser4231Ala)
c.12967T>G (p.Ser4323Ala)
c.12964T>G (p.Ser4322Ala)
c.12922T>G (p.Ser4308Ala)
c.12919T>G (p.Ser4307Ala)
c.12916T>G (p.Ser4306Ala)
c.12868T>G (p.Ser4290Ala)
c.12565T>G (p.Ser4189Ala)
c.13099T>G (p.Ser4367Ala)
c.13096T>G (p.Ser4366Ala)
c.13078T>G (p.Ser4360Ala)
c.13054T>G (p.Ser4352Ala)
c.13051T>G (p.Ser4351Ala)
c.13048T>G (p.Ser4350Ala)
c.13000T>G (p.Ser4334Ala)
c.12988T>G (p.Ser4330Ala)
c.12850T>G (p.Ser4284Ala)
c.12697T>G (p.Ser4233Ala)
Xg.53534629A>GCA413146678HUWE1c.12502T>C (p.Ser4168Pro)
c.12718T>C (p.Ser4240Pro)
c.3185T>C
n.31T>C
c.12691T>C (p.Ser4231Pro)
c.12967T>C (p.Ser4323Pro)
c.12964T>C (p.Ser4322Pro)
c.12922T>C (p.Ser4308Pro)
c.12919T>C (p.Ser4307Pro)
c.12916T>C (p.Ser4306Pro)
c.12868T>C (p.Ser4290Pro)
c.12565T>C (p.Ser4189Pro)
c.13099T>C (p.Ser4367Pro)
c.13096T>C (p.Ser4366Pro)
c.13078T>C (p.Ser4360Pro)
c.13054T>C (p.Ser4352Pro)
c.13051T>C (p.Ser4351Pro)
c.13048T>C (p.Ser4350Pro)
c.13000T>C (p.Ser4334Pro)
c.12988T>C (p.Ser4330Pro)
c.12850T>C (p.Ser4284Pro)
c.12697T>C (p.Ser4233Pro)
Xg.53534629A>TCA413146673HUWE1c.12502T>A (p.Ser4168Thr)
c.12718T>A (p.Ser4240Thr)
c.3185T>A
n.31T>A
c.12691T>A (p.Ser4231Thr)
c.12967T>A (p.Ser4323Thr)
c.12964T>A (p.Ser4322Thr)
c.12922T>A (p.Ser4308Thr)
c.12919T>A (p.Ser4307Thr)
c.12916T>A (p.Ser4306Thr)
c.12868T>A (p.Ser4290Thr)
c.12565T>A (p.Ser4189Thr)
c.13099T>A (p.Ser4367Thr)
c.13096T>A (p.Ser4366Thr)
c.13078T>A (p.Ser4360Thr)
c.13054T>A (p.Ser4352Thr)
c.13051T>A (p.Ser4351Thr)
c.13048T>A (p.Ser4350Thr)
c.13000T>A (p.Ser4334Thr)
c.12988T>A (p.Ser4330Thr)
c.12850T>A (p.Ser4284Thr)
c.12697T>A (p.Ser4233Thr)
Xg.53534630A>CCA413146682HUWE1c.12501T>G (p.Ile4167Met)
c.12717T>G (p.Ile4239Met)
c.3184T>G
n.30T>G
c.12690T>G (p.Ile4230Met)
c.12966T>G (p.Ile4322Met)
c.12963T>G (p.Ile4321Met)
c.12921T>G (p.Ile4307Met)
c.12918T>G (p.Ile4306Met)
c.12915T>G (p.Ile4305Met)
c.12867T>G (p.Ile4289Met)
c.12564T>G (p.Ile4188Met)
c.13098T>G (p.Ile4366Met)
c.13095T>G (p.Ile4365Met)
c.13077T>G (p.Ile4359Met)
c.13053T>G (p.Ile4351Met)
c.13050T>G (p.Ile4350Met)
c.13047T>G (p.Ile4349Met)
c.12999T>G (p.Ile4333Met)
c.12987T>G (p.Ile4329Met)
c.12849T>G (p.Ile4283Met)
c.12696T>G (p.Ile4232Met)
Xg.53534630A>GCA516420687HUWE1c.12501T>C (p.Ile4167=)
c.12717T>C (p.Ile4239=)
c.3184T>C
n.30T>C
c.12690T>C (p.Ile4230=)
c.12966T>C (p.Ile4322=)
c.12963T>C (p.Ile4321=)
c.12921T>C (p.Ile4307=)
c.12918T>C (p.Ile4306=)
c.12915T>C (p.Ile4305=)
c.12867T>C (p.Ile4289=)
c.12564T>C (p.Ile4188=)
c.13098T>C (p.Ile4366=)
c.13095T>C (p.Ile4365=)
c.13077T>C (p.Ile4359=)
c.13053T>C (p.Ile4351=)
c.13050T>C (p.Ile4350=)
c.13047T>C (p.Ile4349=)
c.12999T>C (p.Ile4333=)
c.12987T>C (p.Ile4329=)
c.12849T>C (p.Ile4283=)
c.12696T>C (p.Ile4232=)
Xg.53534630A>TCA516420688HUWE1c.12501T>A (p.Ile4167=)
c.12717T>A (p.Ile4239=)
c.3184T>A
n.30T>A
c.12690T>A (p.Ile4230=)
c.12966T>A (p.Ile4322=)
c.12963T>A (p.Ile4321=)
c.12921T>A (p.Ile4307=)
c.12918T>A (p.Ile4306=)
c.12915T>A (p.Ile4305=)
c.12867T>A (p.Ile4289=)
c.12564T>A (p.Ile4188=)
c.13098T>A (p.Ile4366=)
c.13095T>A (p.Ile4365=)
c.13077T>A (p.Ile4359=)
c.13053T>A (p.Ile4351=)
c.13050T>A (p.Ile4350=)
c.13047T>A (p.Ile4349=)
c.12999T>A (p.Ile4333=)
c.12987T>A (p.Ile4329=)
c.12849T>A (p.Ile4283=)
c.12696T>A (p.Ile4232=)
Xg.53534631A>CCA413146686HUWE1c.12500T>G (p.Ile4167Ser)
c.12716T>G (p.Ile4239Ser)
c.3183T>G
n.29T>G
c.12689T>G (p.Ile4230Ser)
c.12965T>G (p.Ile4322Ser)
c.12962T>G (p.Ile4321Ser)
c.12920T>G (p.Ile4307Ser)
c.12917T>G (p.Ile4306Ser)
c.12914T>G (p.Ile4305Ser)
c.12866T>G (p.Ile4289Ser)
c.12563T>G (p.Ile4188Ser)
c.13097T>G (p.Ile4366Ser)
c.13094T>G (p.Ile4365Ser)
c.13076T>G (p.Ile4359Ser)
c.13052T>G (p.Ile4351Ser)
c.13049T>G (p.Ile4350Ser)
c.13046T>G (p.Ile4349Ser)
c.12998T>G (p.Ile4333Ser)
c.12986T>G (p.Ile4329Ser)
c.12848T>G (p.Ile4283Ser)
c.12695T>G (p.Ile4232Ser)
Xg.53534631A>GCA413146687HUWE1c.12500T>C (p.Ile4167Thr)
c.12716T>C (p.Ile4239Thr)
c.3183T>C
n.29T>C
c.12689T>C (p.Ile4230Thr)
c.12965T>C (p.Ile4322Thr)
c.12962T>C (p.Ile4321Thr)
c.12920T>C (p.Ile4307Thr)
c.12917T>C (p.Ile4306Thr)
c.12914T>C (p.Ile4305Thr)
c.12866T>C (p.Ile4289Thr)
c.12563T>C (p.Ile4188Thr)
c.13097T>C (p.Ile4366Thr)
c.13094T>C (p.Ile4365Thr)
c.13076T>C (p.Ile4359Thr)
c.13052T>C (p.Ile4351Thr)
c.13049T>C (p.Ile4350Thr)
c.13046T>C (p.Ile4349Thr)
c.12998T>C (p.Ile4333Thr)
c.12986T>C (p.Ile4329Thr)
c.12848T>C (p.Ile4283Thr)
c.12695T>C (p.Ile4232Thr)
Xg.53534631A>TCA413146690HUWE1c.12500T>A (p.Ile4167Asn)
c.12716T>A (p.Ile4239Asn)
c.3183T>A
n.29T>A
c.12689T>A (p.Ile4230Asn)
c.12965T>A (p.Ile4322Asn)
c.12962T>A (p.Ile4321Asn)
c.12920T>A (p.Ile4307Asn)
c.12917T>A (p.Ile4306Asn)
c.12914T>A (p.Ile4305Asn)
c.12866T>A (p.Ile4289Asn)
c.12563T>A (p.Ile4188Asn)
c.13097T>A (p.Ile4366Asn)
c.13094T>A (p.Ile4365Asn)
c.13076T>A (p.Ile4359Asn)
c.13052T>A (p.Ile4351Asn)
c.13049T>A (p.Ile4350Asn)
c.13046T>A (p.Ile4349Asn)
c.12998T>A (p.Ile4333Asn)
c.12986T>A (p.Ile4329Asn)
c.12848T>A (p.Ile4283Asn)
c.12695T>A (p.Ile4232Asn)
Xg.53534632T>ACA413146709HUWE1c.12499A>T (p.Ile4167Phe)
c.12715A>T (p.Ile4239Phe)
c.3182A>T
n.28A>T
c.12688A>T (p.Ile4230Phe)
c.12964A>T (p.Ile4322Phe)
c.12961A>T (p.Ile4321Phe)
c.12919A>T (p.Ile4307Phe)
c.12916A>T (p.Ile4306Phe)
c.12913A>T (p.Ile4305Phe)
c.12865A>T (p.Ile4289Phe)
c.12562A>T (p.Ile4188Phe)
c.13096A>T (p.Ile4366Phe)
c.13093A>T (p.Ile4365Phe)
c.13075A>T (p.Ile4359Phe)
c.13051A>T (p.Ile4351Phe)
c.13048A>T (p.Ile4350Phe)
c.13045A>T (p.Ile4349Phe)
c.12997A>T (p.Ile4333Phe)
c.12985A>T (p.Ile4329Phe)
c.12847A>T (p.Ile4283Phe)
c.12694A>T (p.Ile4232Phe)
Xg.53534632T>CCA413146712HUWE1c.12499A>G (p.Ile4167Val)
c.12715A>G (p.Ile4239Val)
c.3182A>G
n.28A>G
c.12688A>G (p.Ile4230Val)
c.12964A>G (p.Ile4322Val)
c.12961A>G (p.Ile4321Val)
c.12919A>G (p.Ile4307Val)
c.12916A>G (p.Ile4306Val)
c.12913A>G (p.Ile4305Val)
c.12865A>G (p.Ile4289Val)
c.12562A>G (p.Ile4188Val)
c.13096A>G (p.Ile4366Val)
c.13093A>G (p.Ile4365Val)
c.13075A>G (p.Ile4359Val)
c.13051A>G (p.Ile4351Val)
c.13048A>G (p.Ile4350Val)
c.13045A>G (p.Ile4349Val)
c.12997A>G (p.Ile4333Val)
c.12985A>G (p.Ile4329Val)
c.12847A>G (p.Ile4283Val)
c.12694A>G (p.Ile4232Val)
Xg.53534632T>GCA413146713HUWE1c.12499A>C (p.Ile4167Leu)
c.12715A>C (p.Ile4239Leu)
c.3182A>C
n.28A>C
c.12688A>C (p.Ile4230Leu)
c.12964A>C (p.Ile4322Leu)
c.12961A>C (p.Ile4321Leu)
c.12919A>C (p.Ile4307Leu)
c.12916A>C (p.Ile4306Leu)
c.12913A>C (p.Ile4305Leu)
c.12865A>C (p.Ile4289Leu)
c.12562A>C (p.Ile4188Leu)
c.13096A>C (p.Ile4366Leu)
c.13093A>C (p.Ile4365Leu)
c.13075A>C (p.Ile4359Leu)
c.13051A>C (p.Ile4351Leu)
c.13048A>C (p.Ile4350Leu)
c.13045A>C (p.Ile4349Leu)
c.12997A>C (p.Ile4333Leu)
c.12985A>C (p.Ile4329Leu)
c.12847A>C (p.Ile4283Leu)
c.12694A>C (p.Ile4232Leu)
Xg.53534633G>ACA516420691HUWE1c.12498C>T (p.Leu4166=)
c.12714C>T (p.Leu4238=)
c.3181C>T
n.27C>T
c.12687C>T (p.Leu4229=)
c.12963C>T (p.Leu4321=)
c.12960C>T (p.Leu4320=)
c.12918C>T (p.Leu4306=)
c.12915C>T (p.Leu4305=)
c.12912C>T (p.Leu4304=)
c.12864C>T (p.Leu4288=)
c.12561C>T (p.Leu4187=)
c.13095C>T (p.Leu4365=)
c.13092C>T (p.Leu4364=)
c.13074C>T (p.Leu4358=)
c.13050C>T (p.Leu4350=)
c.13047C>T (p.Leu4349=)
c.13044C>T (p.Leu4348=)
c.12996C>T (p.Leu4332=)
c.12984C>T (p.Leu4328=)
c.12846C>T (p.Leu4282=)
c.12693C>T (p.Leu4231=)
Xg.53534633G>CCA516420693HUWE1c.12498C>G (p.Leu4166=)
c.12714C>G (p.Leu4238=)
c.3181C>G
n.27C>G
c.12687C>G (p.Leu4229=)
c.12963C>G (p.Leu4321=)
c.12960C>G (p.Leu4320=)
c.12918C>G (p.Leu4306=)
c.12915C>G (p.Leu4305=)
c.12912C>G (p.Leu4304=)
c.12864C>G (p.Leu4288=)
c.12561C>G (p.Leu4187=)
c.13095C>G (p.Leu4365=)
c.13092C>G (p.Leu4364=)
c.13074C>G (p.Leu4358=)
c.13050C>G (p.Leu4350=)
c.13047C>G (p.Leu4349=)
c.13044C>G (p.Leu4348=)
c.12996C>G (p.Leu4332=)
c.12984C>G (p.Leu4328=)
c.12846C>G (p.Leu4282=)
c.12693C>G (p.Leu4231=)
 gnomAD v4
Xg.53534633G>TCA516420695HUWE1c.12498C>A (p.Leu4166=)
c.12714C>A (p.Leu4238=)
c.3181C>A
n.27C>A
c.12687C>A (p.Leu4229=)
c.12963C>A (p.Leu4321=)
c.12960C>A (p.Leu4320=)
c.12918C>A (p.Leu4306=)
c.12915C>A (p.Leu4305=)
c.12912C>A (p.Leu4304=)
c.12864C>A (p.Leu4288=)
c.12561C>A (p.Leu4187=)
c.13095C>A (p.Leu4365=)
c.13092C>A (p.Leu4364=)
c.13074C>A (p.Leu4358=)
c.13050C>A (p.Leu4350=)
c.13047C>A (p.Leu4349=)
c.13044C>A (p.Leu4348=)
c.12996C>A (p.Leu4332=)
c.12984C>A (p.Leu4328=)
c.12846C>A (p.Leu4282=)
c.12693C>A (p.Leu4231=)
Xg.53534634A>CCA413146719HUWE1c.12497T>G (p.Leu4166Arg)
c.12713T>G (p.Leu4238Arg)
c.3180T>G
n.26T>G
c.12686T>G (p.Leu4229Arg)
c.12962T>G (p.Leu4321Arg)
c.12959T>G (p.Leu4320Arg)
c.12917T>G (p.Leu4306Arg)
c.12914T>G (p.Leu4305Arg)
c.12911T>G (p.Leu4304Arg)
c.12863T>G (p.Leu4288Arg)
c.12560T>G (p.Leu4187Arg)
c.13094T>G (p.Leu4365Arg)
c.13091T>G (p.Leu4364Arg)
c.13073T>G (p.Leu4358Arg)
c.13049T>G (p.Leu4350Arg)
c.13046T>G (p.Leu4349Arg)
c.13043T>G (p.Leu4348Arg)
c.12995T>G (p.Leu4332Arg)
c.12983T>G (p.Leu4328Arg)
c.12845T>G (p.Leu4282Arg)
c.12692T>G (p.Leu4231Arg)
Xg.53534634A>GCA413146721HUWE1c.12497T>C (p.Leu4166Pro)
c.12713T>C (p.Leu4238Pro)
c.3180T>C
n.26T>C
c.12686T>C (p.Leu4229Pro)
c.12962T>C (p.Leu4321Pro)
c.12959T>C (p.Leu4320Pro)
c.12917T>C (p.Leu4306Pro)
c.12914T>C (p.Leu4305Pro)
c.12911T>C (p.Leu4304Pro)
c.12863T>C (p.Leu4288Pro)
c.12560T>C (p.Leu4187Pro)
c.13094T>C (p.Leu4365Pro)
c.13091T>C (p.Leu4364Pro)
c.13073T>C (p.Leu4358Pro)
c.13049T>C (p.Leu4350Pro)
c.13046T>C (p.Leu4349Pro)
c.13043T>C (p.Leu4348Pro)
c.12995T>C (p.Leu4332Pro)
c.12983T>C (p.Leu4328Pro)
c.12845T>C (p.Leu4282Pro)
c.12692T>C (p.Leu4231Pro)
Xg.53534634A>TCA413146724HUWE1c.12497T>A (p.Leu4166His)
c.12713T>A (p.Leu4238His)
c.3180T>A
n.26T>A
c.12686T>A (p.Leu4229His)
c.12962T>A (p.Leu4321His)
c.12959T>A (p.Leu4320His)
c.12917T>A (p.Leu4306His)
c.12914T>A (p.Leu4305His)
c.12911T>A (p.Leu4304His)
c.12863T>A (p.Leu4288His)
c.12560T>A (p.Leu4187His)
c.13094T>A (p.Leu4365His)
c.13091T>A (p.Leu4364His)
c.13073T>A (p.Leu4358His)
c.13049T>A (p.Leu4350His)
c.13046T>A (p.Leu4349His)
c.13043T>A (p.Leu4348His)
c.12995T>A (p.Leu4332His)
c.12983T>A (p.Leu4328His)
c.12845T>A (p.Leu4282His)
c.12692T>A (p.Leu4231His)
Xg.53534635G>ACA413146728HUWE1c.12496C>T (p.Leu4166Phe)
c.12712C>T (p.Leu4238Phe)
c.3179C>T
n.25C>T
c.12685C>T (p.Leu4229Phe)
c.12961C>T (p.Leu4321Phe)
c.12958C>T (p.Leu4320Phe)
c.12916C>T (p.Leu4306Phe)
c.12913C>T (p.Leu4305Phe)
c.12910C>T (p.Leu4304Phe)
c.12862C>T (p.Leu4288Phe)
c.12559C>T (p.Leu4187Phe)
c.13093C>T (p.Leu4365Phe)
c.13090C>T (p.Leu4364Phe)
c.13072C>T (p.Leu4358Phe)
c.13048C>T (p.Leu4350Phe)
c.13045C>T (p.Leu4349Phe)
c.13042C>T (p.Leu4348Phe)
c.12994C>T (p.Leu4332Phe)
c.12982C>T (p.Leu4328Phe)
c.12844C>T (p.Leu4282Phe)
c.12691C>T (p.Leu4231Phe)
Xg.53534635G>CCA413146735HUWE1c.12496C>G (p.Leu4166Val)
c.12712C>G (p.Leu4238Val)
c.3179C>G
n.25C>G
c.12685C>G (p.Leu4229Val)
c.12961C>G (p.Leu4321Val)
c.12958C>G (p.Leu4320Val)
c.12916C>G (p.Leu4306Val)
c.12913C>G (p.Leu4305Val)
c.12910C>G (p.Leu4304Val)
c.12862C>G (p.Leu4288Val)
c.12559C>G (p.Leu4187Val)
c.13093C>G (p.Leu4365Val)
c.13090C>G (p.Leu4364Val)
c.13072C>G (p.Leu4358Val)
c.13048C>G (p.Leu4350Val)
c.13045C>G (p.Leu4349Val)
c.13042C>G (p.Leu4348Val)
c.12994C>G (p.Leu4332Val)
c.12982C>G (p.Leu4328Val)
c.12844C>G (p.Leu4282Val)
c.12691C>G (p.Leu4231Val)
Xg.53534635G>TCA413146740HUWE1c.12496C>A (p.Leu4166Ile)
c.12712C>A (p.Leu4238Ile)
c.3179C>A
n.25C>A
c.12685C>A (p.Leu4229Ile)
c.12961C>A (p.Leu4321Ile)
c.12958C>A (p.Leu4320Ile)
c.12916C>A (p.Leu4306Ile)
c.12913C>A (p.Leu4305Ile)
c.12910C>A (p.Leu4304Ile)
c.12862C>A (p.Leu4288Ile)
c.12559C>A (p.Leu4187Ile)
c.13093C>A (p.Leu4365Ile)
c.13090C>A (p.Leu4364Ile)
c.13072C>A (p.Leu4358Ile)
c.13048C>A (p.Leu4350Ile)
c.13045C>A (p.Leu4349Ile)
c.13042C>A (p.Leu4348Ile)
c.12994C>A (p.Leu4332Ile)
c.12982C>A (p.Leu4328Ile)
c.12844C>A (p.Leu4282Ile)
c.12691C>A (p.Leu4231Ile)
Xg.53534636G>ACA516420703HUWE1c.12495C>T (p.Arg4165=)
c.12711C>T (p.Arg4237=)
c.3178C>T
n.24C>T
c.12684C>T (p.Arg4228=)
c.12960C>T (p.Arg4320=)
c.12957C>T (p.Arg4319=)
c.12915C>T (p.Arg4305=)
c.12912C>T (p.Arg4304=)
c.12909C>T (p.Arg4303=)
c.12861C>T (p.Arg4287=)
c.12558C>T (p.Arg4186=)
c.13092C>T (p.Arg4364=)
c.13089C>T (p.Arg4363=)
c.13071C>T (p.Arg4357=)
c.13047C>T (p.Arg4349=)
c.13044C>T (p.Arg4348=)
c.13041C>T (p.Arg4347=)
c.12993C>T (p.Arg4331=)
c.12981C>T (p.Arg4327=)
c.12843C>T (p.Arg4281=)
c.12690C>T (p.Arg4230=)
Xg.53534636G>CCA516420705HUWE1c.12495C>G (p.Arg4165=)
c.12711C>G (p.Arg4237=)
c.3178C>G
n.24C>G
c.12684C>G (p.Arg4228=)
c.12960C>G (p.Arg4320=)
c.12957C>G (p.Arg4319=)
c.12915C>G (p.Arg4305=)
c.12912C>G (p.Arg4304=)
c.12909C>G (p.Arg4303=)
c.12861C>G (p.Arg4287=)
c.12558C>G (p.Arg4186=)
c.13092C>G (p.Arg4364=)
c.13089C>G (p.Arg4363=)
c.13071C>G (p.Arg4357=)
c.13047C>G (p.Arg4349=)
c.13044C>G (p.Arg4348=)
c.13041C>G (p.Arg4347=)
c.12993C>G (p.Arg4331=)
c.12981C>G (p.Arg4327=)
c.12843C>G (p.Arg4281=)
c.12690C>G (p.Arg4230=)
Xg.53534636G>TCA516420707HUWE1c.12495C>A (p.Arg4165=)
c.12711C>A (p.Arg4237=)
c.3178C>A
n.24C>A
c.12684C>A (p.Arg4228=)
c.12960C>A (p.Arg4320=)
c.12957C>A (p.Arg4319=)
c.12915C>A (p.Arg4305=)
c.12912C>A (p.Arg4304=)
c.12909C>A (p.Arg4303=)
c.12861C>A (p.Arg4287=)
c.12558C>A (p.Arg4186=)
c.13092C>A (p.Arg4364=)
c.13089C>A (p.Arg4363=)
c.13071C>A (p.Arg4357=)
c.13047C>A (p.Arg4349=)
c.13044C>A (p.Arg4348=)
c.13041C>A (p.Arg4347=)
c.12993C>A (p.Arg4331=)
c.12981C>A (p.Arg4327=)
c.12843C>A (p.Arg4281=)
c.12690C>A (p.Arg4230=)
Xg.53534637C>ACA413146749HUWE1c.12494G>T (p.Arg4165Leu)
c.12710G>T (p.Arg4237Leu)
c.3177G>T
n.23G>T
c.12683G>T (p.Arg4228Leu)
c.12959G>T (p.Arg4320Leu)
c.12956G>T (p.Arg4319Leu)
c.12914G>T (p.Arg4305Leu)
c.12911G>T (p.Arg4304Leu)
c.12908G>T (p.Arg4303Leu)
c.12860G>T (p.Arg4287Leu)
c.12557G>T (p.Arg4186Leu)
c.13091G>T (p.Arg4364Leu)
c.13088G>T (p.Arg4363Leu)
c.13070G>T (p.Arg4357Leu)
c.13046G>T (p.Arg4349Leu)
c.13043G>T (p.Arg4348Leu)
c.13040G>T (p.Arg4347Leu)
c.12992G>T (p.Arg4331Leu)
c.12980G>T (p.Arg4327Leu)
c.12842G>T (p.Arg4281Leu)
c.12689G>T (p.Arg4230Leu)
Xg.53534637C=CA2429869117HUWE1c.12494G= (p.Arg4165=)
c.12710G= (p.Arg4237=)
c.3177G=
n.23G=
c.12683G= (p.Arg4228=)
c.12959G= (p.Arg4320=)
c.12956G= (p.Arg4319=)
c.12914G= (p.Arg4305=)
c.12911G= (p.Arg4304=)
c.12908G= (p.Arg4303=)
c.12860G= (p.Arg4287=)
c.12557G= (p.Arg4186=)
c.13091G= (p.Arg4364=)
c.13088G= (p.Arg4363=)
c.13070G= (p.Arg4357=)
c.13046G= (p.Arg4349=)
c.13043G= (p.Arg4348=)
c.13040G= (p.Arg4347=)
c.12992G= (p.Arg4331=)
c.12980G= (p.Arg4327=)
c.12842G= (p.Arg4281=)
c.12689G= (p.Arg4230=)
Xg.53534637C>GCA413146745HUWE1c.12494G>C (p.Arg4165Pro)
c.12710G>C (p.Arg4237Pro)
c.3177G>C
n.23G>C
c.12683G>C (p.Arg4228Pro)
c.12959G>C (p.Arg4320Pro)
c.12956G>C (p.Arg4319Pro)
c.12914G>C (p.Arg4305Pro)
c.12911G>C (p.Arg4304Pro)
c.12908G>C (p.Arg4303Pro)
c.12860G>C (p.Arg4287Pro)
c.12557G>C (p.Arg4186Pro)
c.13091G>C (p.Arg4364Pro)
c.13088G>C (p.Arg4363Pro)
c.13070G>C (p.Arg4357Pro)
c.13046G>C (p.Arg4349Pro)
c.13043G>C (p.Arg4348Pro)
c.13040G>C (p.Arg4347Pro)
c.12992G>C (p.Arg4331Pro)
c.12980G>C (p.Arg4327Pro)
c.12842G>C (p.Arg4281Pro)
c.12689G>C (p.Arg4230Pro)
Xg.53534637C>TCA413146747HUWE1c.12494G>A (p.Arg4165His)
c.12710G>A (p.Arg4237His)
c.3177G>A
n.23G>A
c.12683G>A (p.Arg4228His)
c.12959G>A (p.Arg4320His)
c.12956G>A (p.Arg4319His)
c.12914G>A (p.Arg4305His)
c.12911G>A (p.Arg4304His)
c.12908G>A (p.Arg4303His)
c.12860G>A (p.Arg4287His)
c.12557G>A (p.Arg4186His)
c.13091G>A (p.Arg4364His)
c.13088G>A (p.Arg4363His)
c.13070G>A (p.Arg4357His)
c.13046G>A (p.Arg4349His)
c.13043G>A (p.Arg4348His)
c.13040G>A (p.Arg4347His)
c.12992G>A (p.Arg4331His)
c.12980G>A (p.Arg4327His)
c.12842G>A (p.Arg4281His)
c.12689G>A (p.Arg4230His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534638G>ACA413146752HUWE1c.12493C>T (p.Arg4165Cys)
c.12709C>T (p.Arg4237Cys)
c.3176C>T
n.22C>T
c.12682C>T (p.Arg4228Cys)
c.12958C>T (p.Arg4320Cys)
c.12955C>T (p.Arg4319Cys)
c.12913C>T (p.Arg4305Cys)
c.12910C>T (p.Arg4304Cys)
c.12907C>T (p.Arg4303Cys)
c.12859C>T (p.Arg4287Cys)
c.12556C>T (p.Arg4186Cys)
c.13090C>T (p.Arg4364Cys)
c.13087C>T (p.Arg4363Cys)
c.13069C>T (p.Arg4357Cys)
c.13045C>T (p.Arg4349Cys)
c.13042C>T (p.Arg4348Cys)
c.13039C>T (p.Arg4347Cys)
c.12991C>T (p.Arg4331Cys)
c.12979C>T (p.Arg4327Cys)
c.12841C>T (p.Arg4281Cys)
c.12688C>T (p.Arg4230Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534638G>CCA413146765HUWE1c.12493C>G (p.Arg4165Gly)
c.12709C>G (p.Arg4237Gly)
c.3176C>G
n.22C>G
c.12682C>G (p.Arg4228Gly)
c.12958C>G (p.Arg4320Gly)
c.12955C>G (p.Arg4319Gly)
c.12913C>G (p.Arg4305Gly)
c.12910C>G (p.Arg4304Gly)
c.12907C>G (p.Arg4303Gly)
c.12859C>G (p.Arg4287Gly)
c.12556C>G (p.Arg4186Gly)
c.13090C>G (p.Arg4364Gly)
c.13087C>G (p.Arg4363Gly)
c.13069C>G (p.Arg4357Gly)
c.13045C>G (p.Arg4349Gly)
c.13042C>G (p.Arg4348Gly)
c.13039C>G (p.Arg4347Gly)
c.12991C>G (p.Arg4331Gly)
c.12979C>G (p.Arg4327Gly)
c.12841C>G (p.Arg4281Gly)
c.12688C>G (p.Arg4230Gly)
Xg.53534638G=CA2429869118HUWE1c.12493C= (p.Arg4165=)
c.12709C= (p.Arg4237=)
c.3176C=
n.22C=
c.12682C= (p.Arg4228=)
c.12958C= (p.Arg4320=)
c.12955C= (p.Arg4319=)
c.12913C= (p.Arg4305=)
c.12910C= (p.Arg4304=)
c.12907C= (p.Arg4303=)
c.12859C= (p.Arg4287=)
c.12556C= (p.Arg4186=)
c.13090C= (p.Arg4364=)
c.13087C= (p.Arg4363=)
c.13069C= (p.Arg4357=)
c.13045C= (p.Arg4349=)
c.13042C= (p.Arg4348=)
c.13039C= (p.Arg4347=)
c.12991C= (p.Arg4331=)
c.12979C= (p.Arg4327=)
c.12841C= (p.Arg4281=)
c.12688C= (p.Arg4230=)
Xg.53534638G>TCA413146769HUWE1c.12493C>A (p.Arg4165Ser)
c.12709C>A (p.Arg4237Ser)
c.3176C>A
n.22C>A
c.12682C>A (p.Arg4228Ser)
c.12958C>A (p.Arg4320Ser)
c.12955C>A (p.Arg4319Ser)
c.12913C>A (p.Arg4305Ser)
c.12910C>A (p.Arg4304Ser)
c.12907C>A (p.Arg4303Ser)
c.12859C>A (p.Arg4287Ser)
c.12556C>A (p.Arg4186Ser)
c.13090C>A (p.Arg4364Ser)
c.13087C>A (p.Arg4363Ser)
c.13069C>A (p.Arg4357Ser)
c.13045C>A (p.Arg4349Ser)
c.13042C>A (p.Arg4348Ser)
c.13039C>A (p.Arg4347Ser)
c.12991C>A (p.Arg4331Ser)
c.12979C>A (p.Arg4327Ser)
c.12841C>A (p.Arg4281Ser)
c.12688C>A (p.Arg4230Ser)
 dbSNP
Xg.53534639C>ACA413146773HUWE1c.12492G>T (p.Lys4164Asn)
c.12708G>T (p.Lys4236Asn)
c.3175G>T
n.21G>T
c.12681G>T (p.Lys4227Asn)
c.12957G>T (p.Lys4319Asn)
c.12954G>T (p.Lys4318Asn)
c.12912G>T (p.Lys4304Asn)
c.12909G>T (p.Lys4303Asn)
c.12906G>T (p.Lys4302Asn)
c.12858G>T (p.Lys4286Asn)
c.12555G>T (p.Lys4185Asn)
c.13089G>T (p.Lys4363Asn)
c.13086G>T (p.Lys4362Asn)
c.13068G>T (p.Lys4356Asn)
c.13044G>T (p.Lys4348Asn)
c.13041G>T (p.Lys4347Asn)
c.13038G>T (p.Lys4346Asn)
c.12990G>T (p.Lys4330Asn)
c.12978G>T (p.Lys4326Asn)
c.12840G>T (p.Lys4280Asn)
c.12687G>T (p.Lys4229Asn)
Xg.53534639C>GCA413146775HUWE1c.12492G>C (p.Lys4164Asn)
c.12708G>C (p.Lys4236Asn)
c.3175G>C
n.21G>C
c.12681G>C (p.Lys4227Asn)
c.12957G>C (p.Lys4319Asn)
c.12954G>C (p.Lys4318Asn)
c.12912G>C (p.Lys4304Asn)
c.12909G>C (p.Lys4303Asn)
c.12906G>C (p.Lys4302Asn)
c.12858G>C (p.Lys4286Asn)
c.12555G>C (p.Lys4185Asn)
c.13089G>C (p.Lys4363Asn)
c.13086G>C (p.Lys4362Asn)
c.13068G>C (p.Lys4356Asn)
c.13044G>C (p.Lys4348Asn)
c.13041G>C (p.Lys4347Asn)
c.13038G>C (p.Lys4346Asn)
c.12990G>C (p.Lys4330Asn)
c.12978G>C (p.Lys4326Asn)
c.12840G>C (p.Lys4280Asn)
c.12687G>C (p.Lys4229Asn)
Xg.53534639C>TCA516420720HUWE1c.12492G>A (p.Lys4164=)
c.12708G>A (p.Lys4236=)
c.3175G>A
n.21G>A
c.12681G>A (p.Lys4227=)
c.12957G>A (p.Lys4319=)
c.12954G>A (p.Lys4318=)
c.12912G>A (p.Lys4304=)
c.12909G>A (p.Lys4303=)
c.12906G>A (p.Lys4302=)
c.12858G>A (p.Lys4286=)
c.12555G>A (p.Lys4185=)
c.13089G>A (p.Lys4363=)
c.13086G>A (p.Lys4362=)
c.13068G>A (p.Lys4356=)
c.13044G>A (p.Lys4348=)
c.13041G>A (p.Lys4347=)
c.13038G>A (p.Lys4346=)
c.12990G>A (p.Lys4330=)
c.12978G>A (p.Lys4326=)
c.12840G>A (p.Lys4280=)
c.12687G>A (p.Lys4229=)
Xg.53534640T>ACA413146782HUWE1c.12491A>T (p.Lys4164Met)
c.12707A>T (p.Lys4236Met)
c.3174A>T
n.20A>T
c.12680A>T (p.Lys4227Met)
c.12956A>T (p.Lys4319Met)
c.12953A>T (p.Lys4318Met)
c.12911A>T (p.Lys4304Met)
c.12908A>T (p.Lys4303Met)
c.12905A>T (p.Lys4302Met)
c.12857A>T (p.Lys4286Met)
c.12554A>T (p.Lys4185Met)
c.13088A>T (p.Lys4363Met)
c.13085A>T (p.Lys4362Met)
c.13067A>T (p.Lys4356Met)
c.13043A>T (p.Lys4348Met)
c.13040A>T (p.Lys4347Met)
c.13037A>T (p.Lys4346Met)
c.12989A>T (p.Lys4330Met)
c.12977A>T (p.Lys4326Met)
c.12839A>T (p.Lys4280Met)
c.12686A>T (p.Lys4229Met)
Xg.53534640T>CCA413146784HUWE1c.12491A>G (p.Lys4164Arg)
c.12707A>G (p.Lys4236Arg)
c.3174A>G
n.20A>G
c.12680A>G (p.Lys4227Arg)
c.12956A>G (p.Lys4319Arg)
c.12953A>G (p.Lys4318Arg)
c.12911A>G (p.Lys4304Arg)
c.12908A>G (p.Lys4303Arg)
c.12905A>G (p.Lys4302Arg)
c.12857A>G (p.Lys4286Arg)
c.12554A>G (p.Lys4185Arg)
c.13088A>G (p.Lys4363Arg)
c.13085A>G (p.Lys4362Arg)
c.13067A>G (p.Lys4356Arg)
c.13043A>G (p.Lys4348Arg)
c.13040A>G (p.Lys4347Arg)
c.13037A>G (p.Lys4346Arg)
c.12989A>G (p.Lys4330Arg)
c.12977A>G (p.Lys4326Arg)
c.12839A>G (p.Lys4280Arg)
c.12686A>G (p.Lys4229Arg)
Xg.53534640T>GCA413146787HUWE1c.12491A>C (p.Lys4164Thr)
c.12707A>C (p.Lys4236Thr)
c.3174A>C
n.20A>C
c.12680A>C (p.Lys4227Thr)
c.12956A>C (p.Lys4319Thr)
c.12953A>C (p.Lys4318Thr)
c.12911A>C (p.Lys4304Thr)
c.12908A>C (p.Lys4303Thr)
c.12905A>C (p.Lys4302Thr)
c.12857A>C (p.Lys4286Thr)
c.12554A>C (p.Lys4185Thr)
c.13088A>C (p.Lys4363Thr)
c.13085A>C (p.Lys4362Thr)
c.13067A>C (p.Lys4356Thr)
c.13043A>C (p.Lys4348Thr)
c.13040A>C (p.Lys4347Thr)
c.13037A>C (p.Lys4346Thr)
c.12989A>C (p.Lys4330Thr)
c.12977A>C (p.Lys4326Thr)
c.12839A>C (p.Lys4280Thr)
c.12686A>C (p.Lys4229Thr)
Xg.53534641T>ACA413146790HUWE1c.12490A>T (p.Lys4164Ter)
c.12706A>T (p.Lys4236Ter)
c.3173A>T
n.19A>T
c.12679A>T (p.Lys4227Ter)
c.12955A>T (p.Lys4319Ter)
c.12952A>T (p.Lys4318Ter)
c.12910A>T (p.Lys4304Ter)
c.12907A>T (p.Lys4303Ter)
c.12904A>T (p.Lys4302Ter)
c.12856A>T (p.Lys4286Ter)
c.12553A>T (p.Lys4185Ter)
c.13087A>T (p.Lys4363Ter)
c.13084A>T (p.Lys4362Ter)
c.13066A>T (p.Lys4356Ter)
c.13042A>T (p.Lys4348Ter)
c.13039A>T (p.Lys4347Ter)
c.13036A>T (p.Lys4346Ter)
c.12988A>T (p.Lys4330Ter)
c.12976A>T (p.Lys4326Ter)
c.12838A>T (p.Lys4280Ter)
c.12685A>T (p.Lys4229Ter)
Xg.53534641T>CCA413146793HUWE1c.12490A>G (p.Lys4164Glu)
c.12706A>G (p.Lys4236Glu)
c.3173A>G
n.19A>G
c.12679A>G (p.Lys4227Glu)
c.12955A>G (p.Lys4319Glu)
c.12952A>G (p.Lys4318Glu)
c.12910A>G (p.Lys4304Glu)
c.12907A>G (p.Lys4303Glu)
c.12904A>G (p.Lys4302Glu)
c.12856A>G (p.Lys4286Glu)
c.12553A>G (p.Lys4185Glu)
c.13087A>G (p.Lys4363Glu)
c.13084A>G (p.Lys4362Glu)
c.13066A>G (p.Lys4356Glu)
c.13042A>G (p.Lys4348Glu)
c.13039A>G (p.Lys4347Glu)
c.13036A>G (p.Lys4346Glu)
c.12988A>G (p.Lys4330Glu)
c.12976A>G (p.Lys4326Glu)
c.12838A>G (p.Lys4280Glu)
c.12685A>G (p.Lys4229Glu)
Xg.53534641T>GCA413146796HUWE1c.12490A>C (p.Lys4164Gln)
c.12706A>C (p.Lys4236Gln)
c.3173A>C
n.19A>C
c.12679A>C (p.Lys4227Gln)
c.12955A>C (p.Lys4319Gln)
c.12952A>C (p.Lys4318Gln)
c.12910A>C (p.Lys4304Gln)
c.12907A>C (p.Lys4303Gln)
c.12904A>C (p.Lys4302Gln)
c.12856A>C (p.Lys4286Gln)
c.12553A>C (p.Lys4185Gln)
c.13087A>C (p.Lys4363Gln)
c.13084A>C (p.Lys4362Gln)
c.13066A>C (p.Lys4356Gln)
c.13042A>C (p.Lys4348Gln)
c.13039A>C (p.Lys4347Gln)
c.13036A>C (p.Lys4346Gln)
c.12988A>C (p.Lys4330Gln)
c.12976A>C (p.Lys4326Gln)
c.12838A>C (p.Lys4280Gln)
c.12685A>C (p.Lys4229Gln)
Xg.53534642T>ACA516420735HUWE1c.12489A>T (p.Pro4163=)
c.12705A>T (p.Pro4235=)
c.3172A>T
n.18A>T
c.12678A>T (p.Pro4226=)
c.12954A>T (p.Pro4318=)
c.12951A>T (p.Pro4317=)
c.12909A>T (p.Pro4303=)
c.12906A>T (p.Pro4302=)
c.12903A>T (p.Pro4301=)
c.12855A>T (p.Pro4285=)
c.12552A>T (p.Pro4184=)
c.13086A>T (p.Pro4362=)
c.13083A>T (p.Pro4361=)
c.13065A>T (p.Pro4355=)
c.13041A>T (p.Pro4347=)
c.13038A>T (p.Pro4346=)
c.13035A>T (p.Pro4345=)
c.12987A>T (p.Pro4329=)
c.12975A>T (p.Pro4325=)
c.12837A>T (p.Pro4279=)
c.12684A>T (p.Pro4228=)
Xg.53534642T>CCA516420738HUWE1c.12489A>G (p.Pro4163=)
c.12705A>G (p.Pro4235=)
c.3172A>G
n.18A>G
c.12678A>G (p.Pro4226=)
c.12954A>G (p.Pro4318=)
c.12951A>G (p.Pro4317=)
c.12909A>G (p.Pro4303=)
c.12906A>G (p.Pro4302=)
c.12903A>G (p.Pro4301=)
c.12855A>G (p.Pro4285=)
c.12552A>G (p.Pro4184=)
c.13086A>G (p.Pro4362=)
c.13083A>G (p.Pro4361=)
c.13065A>G (p.Pro4355=)
c.13041A>G (p.Pro4347=)
c.13038A>G (p.Pro4346=)
c.13035A>G (p.Pro4345=)
c.12987A>G (p.Pro4329=)
c.12975A>G (p.Pro4325=)
c.12837A>G (p.Pro4279=)
c.12684A>G (p.Pro4228=)
Xg.53534642T>GCA516420739HUWE1c.12489A>C (p.Pro4163=)
c.12705A>C (p.Pro4235=)
c.3172A>C
n.18A>C
c.12678A>C (p.Pro4226=)
c.12954A>C (p.Pro4318=)
c.12951A>C (p.Pro4317=)
c.12909A>C (p.Pro4303=)
c.12906A>C (p.Pro4302=)
c.12903A>C (p.Pro4301=)
c.12855A>C (p.Pro4285=)
c.12552A>C (p.Pro4184=)
c.13086A>C (p.Pro4362=)
c.13083A>C (p.Pro4361=)
c.13065A>C (p.Pro4355=)
c.13041A>C (p.Pro4347=)
c.13038A>C (p.Pro4346=)
c.13035A>C (p.Pro4345=)
c.12987A>C (p.Pro4329=)
c.12975A>C (p.Pro4325=)
c.12837A>C (p.Pro4279=)
c.12684A>C (p.Pro4228=)
Xg.53534643G>ACA413146805HUWE1c.12488C>T (p.Pro4163Leu)
c.12704C>T (p.Pro4235Leu)
c.3171C>T
n.17C>T
c.12677C>T (p.Pro4226Leu)
c.12953C>T (p.Pro4318Leu)
c.12950C>T (p.Pro4317Leu)
c.12908C>T (p.Pro4303Leu)
c.12905C>T (p.Pro4302Leu)
c.12902C>T (p.Pro4301Leu)
c.12854C>T (p.Pro4285Leu)
c.12551C>T (p.Pro4184Leu)
c.13085C>T (p.Pro4362Leu)
c.13082C>T (p.Pro4361Leu)
c.13064C>T (p.Pro4355Leu)
c.13040C>T (p.Pro4347Leu)
c.13037C>T (p.Pro4346Leu)
c.13034C>T (p.Pro4345Leu)
c.12986C>T (p.Pro4329Leu)
c.12974C>T (p.Pro4325Leu)
c.12836C>T (p.Pro4279Leu)
c.12683C>T (p.Pro4228Leu)
 COSMIC COSMIC
Xg.53534643G>CCA413146801HUWE1c.12488C>G (p.Pro4163Arg)
c.12704C>G (p.Pro4235Arg)
c.3171C>G
n.17C>G
c.12677C>G (p.Pro4226Arg)
c.12953C>G (p.Pro4318Arg)
c.12950C>G (p.Pro4317Arg)
c.12908C>G (p.Pro4303Arg)
c.12905C>G (p.Pro4302Arg)
c.12902C>G (p.Pro4301Arg)
c.12854C>G (p.Pro4285Arg)
c.12551C>G (p.Pro4184Arg)
c.13085C>G (p.Pro4362Arg)
c.13082C>G (p.Pro4361Arg)
c.13064C>G (p.Pro4355Arg)
c.13040C>G (p.Pro4347Arg)
c.13037C>G (p.Pro4346Arg)
c.13034C>G (p.Pro4345Arg)
c.12986C>G (p.Pro4329Arg)
c.12974C>G (p.Pro4325Arg)
c.12836C>G (p.Pro4279Arg)
c.12683C>G (p.Pro4228Arg)
Xg.53534643G>TCA413146802HUWE1c.12488C>A (p.Pro4163Gln)
c.12704C>A (p.Pro4235Gln)
c.3171C>A
n.17C>A
c.12677C>A (p.Pro4226Gln)
c.12953C>A (p.Pro4318Gln)
c.12950C>A (p.Pro4317Gln)
c.12908C>A (p.Pro4303Gln)
c.12905C>A (p.Pro4302Gln)
c.12902C>A (p.Pro4301Gln)
c.12854C>A (p.Pro4285Gln)
c.12551C>A (p.Pro4184Gln)
c.13085C>A (p.Pro4362Gln)
c.13082C>A (p.Pro4361Gln)
c.13064C>A (p.Pro4355Gln)
c.13040C>A (p.Pro4347Gln)
c.13037C>A (p.Pro4346Gln)
c.13034C>A (p.Pro4345Gln)
c.12986C>A (p.Pro4329Gln)
c.12974C>A (p.Pro4325Gln)
c.12836C>A (p.Pro4279Gln)
c.12683C>A (p.Pro4228Gln)
Xg.53534644G>ACA413146809HUWE1c.12487C>T (p.Pro4163Ser)
c.12703C>T (p.Pro4235Ser)
c.3170C>T
n.16C>T
c.12676C>T (p.Pro4226Ser)
c.12952C>T (p.Pro4318Ser)
c.12949C>T (p.Pro4317Ser)
c.12907C>T (p.Pro4303Ser)
c.12904C>T (p.Pro4302Ser)
c.12901C>T (p.Pro4301Ser)
c.12853C>T (p.Pro4285Ser)
c.12550C>T (p.Pro4184Ser)
c.13084C>T (p.Pro4362Ser)
c.13081C>T (p.Pro4361Ser)
c.13063C>T (p.Pro4355Ser)
c.13039C>T (p.Pro4347Ser)
c.13036C>T (p.Pro4346Ser)
c.13033C>T (p.Pro4345Ser)
c.12985C>T (p.Pro4329Ser)
c.12973C>T (p.Pro4325Ser)
c.12835C>T (p.Pro4279Ser)
c.12682C>T (p.Pro4228Ser)
 COSMIC COSMIC
Xg.53534644G>CCA413146813HUWE1c.12487C>G (p.Pro4163Ala)
c.12703C>G (p.Pro4235Ala)
c.3170C>G
n.16C>G
c.12676C>G (p.Pro4226Ala)
c.12952C>G (p.Pro4318Ala)
c.12949C>G (p.Pro4317Ala)
c.12907C>G (p.Pro4303Ala)
c.12904C>G (p.Pro4302Ala)
c.12901C>G (p.Pro4301Ala)
c.12853C>G (p.Pro4285Ala)
c.12550C>G (p.Pro4184Ala)
c.13084C>G (p.Pro4362Ala)
c.13081C>G (p.Pro4361Ala)
c.13063C>G (p.Pro4355Ala)
c.13039C>G (p.Pro4347Ala)
c.13036C>G (p.Pro4346Ala)
c.13033C>G (p.Pro4345Ala)
c.12985C>G (p.Pro4329Ala)
c.12973C>G (p.Pro4325Ala)
c.12835C>G (p.Pro4279Ala)
c.12682C>G (p.Pro4228Ala)
Xg.53534644G>TCA413146811HUWE1c.12487C>A (p.Pro4163Thr)
c.12703C>A (p.Pro4235Thr)
c.3170C>A
n.16C>A
c.12676C>A (p.Pro4226Thr)
c.12952C>A (p.Pro4318Thr)
c.12949C>A (p.Pro4317Thr)
c.12907C>A (p.Pro4303Thr)
c.12904C>A (p.Pro4302Thr)
c.12901C>A (p.Pro4301Thr)
c.12853C>A (p.Pro4285Thr)
c.12550C>A (p.Pro4184Thr)
c.13084C>A (p.Pro4362Thr)
c.13081C>A (p.Pro4361Thr)
c.13063C>A (p.Pro4355Thr)
c.13039C>A (p.Pro4347Thr)
c.13036C>A (p.Pro4346Thr)
c.13033C>A (p.Pro4345Thr)
c.12985C>A (p.Pro4329Thr)
c.12973C>A (p.Pro4325Thr)
c.12835C>A (p.Pro4279Thr)
c.12682C>A (p.Pro4228Thr)
 gnomAD v4
Xg.53534645A>CCA413146815HUWE1c.12486T>G (p.Ile4162Met)
c.12702T>G (p.Ile4234Met)
c.3169T>G
n.15T>G
c.12675T>G (p.Ile4225Met)
c.12951T>G (p.Ile4317Met)
c.12948T>G (p.Ile4316Met)
c.12906T>G (p.Ile4302Met)
c.12903T>G (p.Ile4301Met)
c.12900T>G (p.Ile4300Met)
c.12852T>G (p.Ile4284Met)
c.12549T>G (p.Ile4183Met)
c.13083T>G (p.Ile4361Met)
c.13080T>G (p.Ile4360Met)
c.13062T>G (p.Ile4354Met)
c.13038T>G (p.Ile4346Met)
c.13035T>G (p.Ile4345Met)
c.13032T>G (p.Ile4344Met)
c.12984T>G (p.Ile4328Met)
c.12972T>G (p.Ile4324Met)
c.12834T>G (p.Ile4278Met)
c.12681T>G (p.Ile4227Met)
Xg.53534645A>GCA516420748HUWE1c.12486T>C (p.Ile4162=)
c.12702T>C (p.Ile4234=)
c.3169T>C
n.15T>C
c.12675T>C (p.Ile4225=)
c.12951T>C (p.Ile4317=)
c.12948T>C (p.Ile4316=)
c.12906T>C (p.Ile4302=)
c.12903T>C (p.Ile4301=)
c.12900T>C (p.Ile4300=)
c.12852T>C (p.Ile4284=)
c.12549T>C (p.Ile4183=)
c.13083T>C (p.Ile4361=)
c.13080T>C (p.Ile4360=)
c.13062T>C (p.Ile4354=)
c.13038T>C (p.Ile4346=)
c.13035T>C (p.Ile4345=)
c.13032T>C (p.Ile4344=)
c.12984T>C (p.Ile4328=)
c.12972T>C (p.Ile4324=)
c.12834T>C (p.Ile4278=)
c.12681T>C (p.Ile4227=)
Xg.53534645A>TCA516420745HUWE1c.12486T>A (p.Ile4162=)
c.12702T>A (p.Ile4234=)
c.3169T>A
n.15T>A
c.12675T>A (p.Ile4225=)
c.12951T>A (p.Ile4317=)
c.12948T>A (p.Ile4316=)
c.12906T>A (p.Ile4302=)
c.12903T>A (p.Ile4301=)
c.12900T>A (p.Ile4300=)
c.12852T>A (p.Ile4284=)
c.12549T>A (p.Ile4183=)
c.13083T>A (p.Ile4361=)
c.13080T>A (p.Ile4360=)
c.13062T>A (p.Ile4354=)
c.13038T>A (p.Ile4346=)
c.13035T>A (p.Ile4345=)
c.13032T>A (p.Ile4344=)
c.12984T>A (p.Ile4328=)
c.12972T>A (p.Ile4324=)
c.12834T>A (p.Ile4278=)
c.12681T>A (p.Ile4227=)
Xg.53534646A>CCA413146826HUWE1c.12485T>G (p.Ile4162Ser)
c.12701T>G (p.Ile4234Ser)
c.3168T>G
n.14T>G
c.12674T>G (p.Ile4225Ser)
c.12950T>G (p.Ile4317Ser)
c.12947T>G (p.Ile4316Ser)
c.12905T>G (p.Ile4302Ser)
c.12902T>G (p.Ile4301Ser)
c.12899T>G (p.Ile4300Ser)
c.12851T>G (p.Ile4284Ser)
c.12548T>G (p.Ile4183Ser)
c.13082T>G (p.Ile4361Ser)
c.13079T>G (p.Ile4360Ser)
c.13061T>G (p.Ile4354Ser)
c.13037T>G (p.Ile4346Ser)
c.13034T>G (p.Ile4345Ser)
c.13031T>G (p.Ile4344Ser)
c.12983T>G (p.Ile4328Ser)
c.12971T>G (p.Ile4324Ser)
c.12833T>G (p.Ile4278Ser)
c.12680T>G (p.Ile4227Ser)
Xg.53534646A>GCA413146819HUWE1c.12485T>C (p.Ile4162Thr)
c.12701T>C (p.Ile4234Thr)
c.3168T>C
n.14T>C
c.12674T>C (p.Ile4225Thr)
c.12950T>C (p.Ile4317Thr)
c.12947T>C (p.Ile4316Thr)
c.12905T>C (p.Ile4302Thr)
c.12902T>C (p.Ile4301Thr)
c.12899T>C (p.Ile4300Thr)
c.12851T>C (p.Ile4284Thr)
c.12548T>C (p.Ile4183Thr)
c.13082T>C (p.Ile4361Thr)
c.13079T>C (p.Ile4360Thr)
c.13061T>C (p.Ile4354Thr)
c.13037T>C (p.Ile4346Thr)
c.13034T>C (p.Ile4345Thr)
c.13031T>C (p.Ile4344Thr)
c.12983T>C (p.Ile4328Thr)
c.12971T>C (p.Ile4324Thr)
c.12833T>C (p.Ile4278Thr)
c.12680T>C (p.Ile4227Thr)
Xg.53534646A>TCA413146822HUWE1c.12485T>A (p.Ile4162Asn)
c.12701T>A (p.Ile4234Asn)
c.3168T>A
n.14T>A
c.12674T>A (p.Ile4225Asn)
c.12950T>A (p.Ile4317Asn)
c.12947T>A (p.Ile4316Asn)
c.12905T>A (p.Ile4302Asn)
c.12902T>A (p.Ile4301Asn)
c.12899T>A (p.Ile4300Asn)
c.12851T>A (p.Ile4284Asn)
c.12548T>A (p.Ile4183Asn)
c.13082T>A (p.Ile4361Asn)
c.13079T>A (p.Ile4360Asn)
c.13061T>A (p.Ile4354Asn)
c.13037T>A (p.Ile4346Asn)
c.13034T>A (p.Ile4345Asn)
c.13031T>A (p.Ile4344Asn)
c.12983T>A (p.Ile4328Asn)
c.12971T>A (p.Ile4324Asn)
c.12833T>A (p.Ile4278Asn)
c.12680T>A (p.Ile4227Asn)
Xg.53534647T>ACA413146830HUWE1c.12484A>T (p.Ile4162Phe)
c.12700A>T (p.Ile4234Phe)
c.3167A>T
n.13A>T
c.12673A>T (p.Ile4225Phe)
c.12949A>T (p.Ile4317Phe)
c.12946A>T (p.Ile4316Phe)
c.12904A>T (p.Ile4302Phe)
c.12901A>T (p.Ile4301Phe)
c.12898A>T (p.Ile4300Phe)
c.12850A>T (p.Ile4284Phe)
c.12547A>T (p.Ile4183Phe)
c.13081A>T (p.Ile4361Phe)
c.13078A>T (p.Ile4360Phe)
c.13060A>T (p.Ile4354Phe)
c.13036A>T (p.Ile4346Phe)
c.13033A>T (p.Ile4345Phe)
c.13030A>T (p.Ile4344Phe)
c.12982A>T (p.Ile4328Phe)
c.12970A>T (p.Ile4324Phe)
c.12832A>T (p.Ile4278Phe)
c.12679A>T (p.Ile4227Phe)
Xg.53534647T>CCA413146833HUWE1c.12484A>G (p.Ile4162Val)
c.12700A>G (p.Ile4234Val)
c.3167A>G
n.13A>G
c.12673A>G (p.Ile4225Val)
c.12949A>G (p.Ile4317Val)
c.12946A>G (p.Ile4316Val)
c.12904A>G (p.Ile4302Val)
c.12901A>G (p.Ile4301Val)
c.12898A>G (p.Ile4300Val)
c.12850A>G (p.Ile4284Val)
c.12547A>G (p.Ile4183Val)
c.13081A>G (p.Ile4361Val)
c.13078A>G (p.Ile4360Val)
c.13060A>G (p.Ile4354Val)
c.13036A>G (p.Ile4346Val)
c.13033A>G (p.Ile4345Val)
c.13030A>G (p.Ile4344Val)
c.12982A>G (p.Ile4328Val)
c.12970A>G (p.Ile4324Val)
c.12832A>G (p.Ile4278Val)
c.12679A>G (p.Ile4227Val)
 ClinVar
Xg.53534647T>GCA413146836HUWE1c.12484A>C (p.Ile4162Leu)
c.12700A>C (p.Ile4234Leu)
c.3167A>C
n.13A>C
c.12673A>C (p.Ile4225Leu)
c.12949A>C (p.Ile4317Leu)
c.12946A>C (p.Ile4316Leu)
c.12904A>C (p.Ile4302Leu)
c.12901A>C (p.Ile4301Leu)
c.12898A>C (p.Ile4300Leu)
c.12850A>C (p.Ile4284Leu)
c.12547A>C (p.Ile4183Leu)
c.13081A>C (p.Ile4361Leu)
c.13078A>C (p.Ile4360Leu)
c.13060A>C (p.Ile4354Leu)
c.13036A>C (p.Ile4346Leu)
c.13033A>C (p.Ile4345Leu)
c.13030A>C (p.Ile4344Leu)
c.12982A>C (p.Ile4328Leu)
c.12970A>C (p.Ile4324Leu)
c.12832A>C (p.Ile4278Leu)
c.12679A>C (p.Ile4227Leu)
Xg.53534648G>ACA516420765HUWE1c.12483C>T (p.Ile4161=)
c.12699C>T (p.Ile4233=)
c.3166C>T
n.12C>T
c.12672C>T (p.Ile4224=)
c.12948C>T (p.Ile4316=)
c.12945C>T (p.Ile4315=)
c.12903C>T (p.Ile4301=)
c.12900C>T (p.Ile4300=)
c.12897C>T (p.Ile4299=)
c.12849C>T (p.Ile4283=)
c.12546C>T (p.Ile4182=)
c.13080C>T (p.Ile4360=)
c.13077C>T (p.Ile4359=)
c.13059C>T (p.Ile4353=)
c.13035C>T (p.Ile4345=)
c.13032C>T (p.Ile4344=)
c.13029C>T (p.Ile4343=)
c.12981C>T (p.Ile4327=)
c.12969C>T (p.Ile4323=)
c.12831C>T (p.Ile4277=)
c.12678C>T (p.Ile4226=)
Xg.53534648G>CCA413146839HUWE1c.12483C>G (p.Ile4161Met)
c.12699C>G (p.Ile4233Met)
c.3166C>G
n.12C>G
c.12672C>G (p.Ile4224Met)
c.12948C>G (p.Ile4316Met)
c.12945C>G (p.Ile4315Met)
c.12903C>G (p.Ile4301Met)
c.12900C>G (p.Ile4300Met)
c.12897C>G (p.Ile4299Met)
c.12849C>G (p.Ile4283Met)
c.12546C>G (p.Ile4182Met)
c.13080C>G (p.Ile4360Met)
c.13077C>G (p.Ile4359Met)
c.13059C>G (p.Ile4353Met)
c.13035C>G (p.Ile4345Met)
c.13032C>G (p.Ile4344Met)
c.13029C>G (p.Ile4343Met)
c.12981C>G (p.Ile4327Met)
c.12969C>G (p.Ile4323Met)
c.12831C>G (p.Ile4277Met)
c.12678C>G (p.Ile4226Met)
Xg.53534648G=CA2429869119HUWE1c.12483C= (p.Ile4161=)
c.12699C= (p.Ile4233=)
c.3166C=
n.12C=
c.12672C= (p.Ile4224=)
c.12948C= (p.Ile4316=)
c.12945C= (p.Ile4315=)
c.12903C= (p.Ile4301=)
c.12900C= (p.Ile4300=)
c.12897C= (p.Ile4299=)
c.12849C= (p.Ile4283=)
c.12546C= (p.Ile4182=)
c.13080C= (p.Ile4360=)
c.13077C= (p.Ile4359=)
c.13059C= (p.Ile4353=)
c.13035C= (p.Ile4345=)
c.13032C= (p.Ile4344=)
c.13029C= (p.Ile4343=)
c.12981C= (p.Ile4327=)
c.12969C= (p.Ile4323=)
c.12831C= (p.Ile4277=)
c.12678C= (p.Ile4226=)
Xg.53534648G>TCA516420769HUWE1c.12483C>A (p.Ile4161=)
c.12699C>A (p.Ile4233=)
c.3166C>A
n.12C>A
c.12672C>A (p.Ile4224=)
c.12948C>A (p.Ile4316=)
c.12945C>A (p.Ile4315=)
c.12903C>A (p.Ile4301=)
c.12900C>A (p.Ile4300=)
c.12897C>A (p.Ile4299=)
c.12849C>A (p.Ile4283=)
c.12546C>A (p.Ile4182=)
c.13080C>A (p.Ile4360=)
c.13077C>A (p.Ile4359=)
c.13059C>A (p.Ile4353=)
c.13035C>A (p.Ile4345=)
c.13032C>A (p.Ile4344=)
c.13029C>A (p.Ile4343=)
c.12981C>A (p.Ile4327=)
c.12969C>A (p.Ile4323=)
c.12831C>A (p.Ile4277=)
c.12678C>A (p.Ile4226=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534649A>CCA413146843HUWE1c.12482T>G (p.Ile4161Ser)
c.12698T>G (p.Ile4233Ser)
c.3165T>G
n.11T>G
c.12671T>G (p.Ile4224Ser)
c.12947T>G (p.Ile4316Ser)
c.12944T>G (p.Ile4315Ser)
c.12902T>G (p.Ile4301Ser)
c.12899T>G (p.Ile4300Ser)
c.12896T>G (p.Ile4299Ser)
c.12848T>G (p.Ile4283Ser)
c.12545T>G (p.Ile4182Ser)
c.13079T>G (p.Ile4360Ser)
c.13076T>G (p.Ile4359Ser)
c.13058T>G (p.Ile4353Ser)
c.13034T>G (p.Ile4345Ser)
c.13031T>G (p.Ile4344Ser)
c.13028T>G (p.Ile4343Ser)
c.12980T>G (p.Ile4327Ser)
c.12968T>G (p.Ile4323Ser)
c.12830T>G (p.Ile4277Ser)
c.12677T>G (p.Ile4226Ser)
Xg.53534649A>GCA413146846HUWE1c.12482T>C (p.Ile4161Thr)
c.12698T>C (p.Ile4233Thr)
c.3165T>C
n.11T>C
c.12671T>C (p.Ile4224Thr)
c.12947T>C (p.Ile4316Thr)
c.12944T>C (p.Ile4315Thr)
c.12902T>C (p.Ile4301Thr)
c.12899T>C (p.Ile4300Thr)
c.12896T>C (p.Ile4299Thr)
c.12848T>C (p.Ile4283Thr)
c.12545T>C (p.Ile4182Thr)
c.13079T>C (p.Ile4360Thr)
c.13076T>C (p.Ile4359Thr)
c.13058T>C (p.Ile4353Thr)
c.13034T>C (p.Ile4345Thr)
c.13031T>C (p.Ile4344Thr)
c.13028T>C (p.Ile4343Thr)
c.12980T>C (p.Ile4327Thr)
c.12968T>C (p.Ile4323Thr)
c.12830T>C (p.Ile4277Thr)
c.12677T>C (p.Ile4226Thr)
Xg.53534649A>TCA413146850HUWE1c.12482T>A (p.Ile4161Asn)
c.12698T>A (p.Ile4233Asn)
c.3165T>A
n.11T>A
c.12671T>A (p.Ile4224Asn)
c.12947T>A (p.Ile4316Asn)
c.12944T>A (p.Ile4315Asn)
c.12902T>A (p.Ile4301Asn)
c.12899T>A (p.Ile4300Asn)
c.12896T>A (p.Ile4299Asn)
c.12848T>A (p.Ile4283Asn)
c.12545T>A (p.Ile4182Asn)
c.13079T>A (p.Ile4360Asn)
c.13076T>A (p.Ile4359Asn)
c.13058T>A (p.Ile4353Asn)
c.13034T>A (p.Ile4345Asn)
c.13031T>A (p.Ile4344Asn)
c.13028T>A (p.Ile4343Asn)
c.12980T>A (p.Ile4327Asn)
c.12968T>A (p.Ile4323Asn)
c.12830T>A (p.Ile4277Asn)
c.12677T>A (p.Ile4226Asn)
Xg.53534650T>ACA413146854HUWE1c.12481A>T (p.Ile4161Phe)
c.12697A>T (p.Ile4233Phe)
c.3164A>T
n.10A>T
c.12670A>T (p.Ile4224Phe)
c.12946A>T (p.Ile4316Phe)
c.12943A>T (p.Ile4315Phe)
c.12901A>T (p.Ile4301Phe)
c.12898A>T (p.Ile4300Phe)
c.12895A>T (p.Ile4299Phe)
c.12847A>T (p.Ile4283Phe)
c.12544A>T (p.Ile4182Phe)
c.13078A>T (p.Ile4360Phe)
c.13075A>T (p.Ile4359Phe)
c.13057A>T (p.Ile4353Phe)
c.13033A>T (p.Ile4345Phe)
c.13030A>T (p.Ile4344Phe)
c.13027A>T (p.Ile4343Phe)
c.12979A>T (p.Ile4327Phe)
c.12967A>T (p.Ile4323Phe)
c.12829A>T (p.Ile4277Phe)
c.12676A>T (p.Ile4226Phe)
Xg.53534650T>CCA413146856HUWE1c.12481A>G (p.Ile4161Val)
c.12697A>G (p.Ile4233Val)
c.3164A>G
n.10A>G
c.12670A>G (p.Ile4224Val)
c.12946A>G (p.Ile4316Val)
c.12943A>G (p.Ile4315Val)
c.12901A>G (p.Ile4301Val)
c.12898A>G (p.Ile4300Val)
c.12895A>G (p.Ile4299Val)
c.12847A>G (p.Ile4283Val)
c.12544A>G (p.Ile4182Val)
c.13078A>G (p.Ile4360Val)
c.13075A>G (p.Ile4359Val)
c.13057A>G (p.Ile4353Val)
c.13033A>G (p.Ile4345Val)
c.13030A>G (p.Ile4344Val)
c.13027A>G (p.Ile4343Val)
c.12979A>G (p.Ile4327Val)
c.12967A>G (p.Ile4323Val)
c.12829A>G (p.Ile4277Val)
c.12676A>G (p.Ile4226Val)
Xg.53534650T>GCA413146859HUWE1c.12481A>C (p.Ile4161Leu)
c.12697A>C (p.Ile4233Leu)
c.3164A>C
n.10A>C
c.12670A>C (p.Ile4224Leu)
c.12946A>C (p.Ile4316Leu)
c.12943A>C (p.Ile4315Leu)
c.12901A>C (p.Ile4301Leu)
c.12898A>C (p.Ile4300Leu)
c.12895A>C (p.Ile4299Leu)
c.12847A>C (p.Ile4283Leu)
c.12544A>C (p.Ile4182Leu)
c.13078A>C (p.Ile4360Leu)
c.13075A>C (p.Ile4359Leu)
c.13057A>C (p.Ile4353Leu)
c.13033A>C (p.Ile4345Leu)
c.13030A>C (p.Ile4344Leu)
c.13027A>C (p.Ile4343Leu)
c.12979A>C (p.Ile4327Leu)
c.12967A>C (p.Ile4323Leu)
c.12829A>C (p.Ile4277Leu)
c.12676A>C (p.Ile4226Leu)
Xg.53534651C>ACA413146862HUWE1c.12480G>T (p.Glu4160Asp)
c.12696G>T (p.Glu4232Asp)
c.3163G>T
n.9G>T
c.12669G>T (p.Glu4223Asp)
c.12945G>T (p.Glu4315Asp)
c.12942G>T (p.Glu4314Asp)
c.12900G>T (p.Glu4300Asp)
c.12897G>T (p.Glu4299Asp)
c.12894G>T (p.Glu4298Asp)
c.12846G>T (p.Glu4282Asp)
c.12543G>T (p.Glu4181Asp)
c.13077G>T (p.Glu4359Asp)
c.13074G>T (p.Glu4358Asp)
c.13056G>T (p.Glu4352Asp)
c.13032G>T (p.Glu4344Asp)
c.13029G>T (p.Glu4343Asp)
c.13026G>T (p.Glu4342Asp)
c.12978G>T (p.Glu4326Asp)
c.12966G>T (p.Glu4322Asp)
c.12828G>T (p.Glu4276Asp)
c.12675G>T (p.Glu4225Asp)
Xg.53534651C>GCA413146865HUWE1c.12480G>C (p.Glu4160Asp)
c.12696G>C (p.Glu4232Asp)
c.3163G>C
n.9G>C
c.12669G>C (p.Glu4223Asp)
c.12945G>C (p.Glu4315Asp)
c.12942G>C (p.Glu4314Asp)
c.12900G>C (p.Glu4300Asp)
c.12897G>C (p.Glu4299Asp)
c.12894G>C (p.Glu4298Asp)
c.12846G>C (p.Glu4282Asp)
c.12543G>C (p.Glu4181Asp)
c.13077G>C (p.Glu4359Asp)
c.13074G>C (p.Glu4358Asp)
c.13056G>C (p.Glu4352Asp)
c.13032G>C (p.Glu4344Asp)
c.13029G>C (p.Glu4343Asp)
c.13026G>C (p.Glu4342Asp)
c.12978G>C (p.Glu4326Asp)
c.12966G>C (p.Glu4322Asp)
c.12828G>C (p.Glu4276Asp)
c.12675G>C (p.Glu4225Asp)
Xg.53534651C>TCA516420780HUWE1c.12480G>A (p.Glu4160=)
c.12696G>A (p.Glu4232=)
c.3163G>A
n.9G>A
c.12669G>A (p.Glu4223=)
c.12945G>A (p.Glu4315=)
c.12942G>A (p.Glu4314=)
c.12900G>A (p.Glu4300=)
c.12897G>A (p.Glu4299=)
c.12894G>A (p.Glu4298=)
c.12846G>A (p.Glu4282=)
c.12543G>A (p.Glu4181=)
c.13077G>A (p.Glu4359=)
c.13074G>A (p.Glu4358=)
c.13056G>A (p.Glu4352=)
c.13032G>A (p.Glu4344=)
c.13029G>A (p.Glu4343=)
c.13026G>A (p.Glu4342=)
c.12978G>A (p.Glu4326=)
c.12966G>A (p.Glu4322=)
c.12828G>A (p.Glu4276=)
c.12675G>A (p.Glu4225=)
 gnomAD v4
Xg.53534652T>ACA413146867HUWE1c.12479A>T (p.Glu4160Val)
c.12695A>T (p.Glu4232Val)
c.3162A>T
n.8A>T
c.12668A>T (p.Glu4223Val)
c.12944A>T (p.Glu4315Val)
c.12941A>T (p.Glu4314Val)
c.12899A>T (p.Glu4300Val)
c.12896A>T (p.Glu4299Val)
c.12893A>T (p.Glu4298Val)
c.12845A>T (p.Glu4282Val)
c.12542A>T (p.Glu4181Val)
c.13076A>T (p.Glu4359Val)
c.13073A>T (p.Glu4358Val)
c.13055A>T (p.Glu4352Val)
c.13031A>T (p.Glu4344Val)
c.13028A>T (p.Glu4343Val)
c.13025A>T (p.Glu4342Val)
c.12977A>T (p.Glu4326Val)
c.12965A>T (p.Glu4322Val)
c.12827A>T (p.Glu4276Val)
c.12674A>T (p.Glu4225Val)
Xg.53534652T>CCA413146871HUWE1c.12479A>G (p.Glu4160Gly)
c.12695A>G (p.Glu4232Gly)
c.3162A>G
n.8A>G
c.12668A>G (p.Glu4223Gly)
c.12944A>G (p.Glu4315Gly)
c.12941A>G (p.Glu4314Gly)
c.12899A>G (p.Glu4300Gly)
c.12896A>G (p.Glu4299Gly)
c.12893A>G (p.Glu4298Gly)
c.12845A>G (p.Glu4282Gly)
c.12542A>G (p.Glu4181Gly)
c.13076A>G (p.Glu4359Gly)
c.13073A>G (p.Glu4358Gly)
c.13055A>G (p.Glu4352Gly)
c.13031A>G (p.Glu4344Gly)
c.13028A>G (p.Glu4343Gly)
c.13025A>G (p.Glu4342Gly)
c.12977A>G (p.Glu4326Gly)
c.12965A>G (p.Glu4322Gly)
c.12827A>G (p.Glu4276Gly)
c.12674A>G (p.Glu4225Gly)
Xg.53534652T>GCA413146874HUWE1c.12479A>C (p.Glu4160Ala)
c.12695A>C (p.Glu4232Ala)
c.3162A>C
n.8A>C
c.12668A>C (p.Glu4223Ala)
c.12944A>C (p.Glu4315Ala)
c.12941A>C (p.Glu4314Ala)
c.12899A>C (p.Glu4300Ala)
c.12896A>C (p.Glu4299Ala)
c.12893A>C (p.Glu4298Ala)
c.12845A>C (p.Glu4282Ala)
c.12542A>C (p.Glu4181Ala)
c.13076A>C (p.Glu4359Ala)
c.13073A>C (p.Glu4358Ala)
c.13055A>C (p.Glu4352Ala)
c.13031A>C (p.Glu4344Ala)
c.13028A>C (p.Glu4343Ala)
c.13025A>C (p.Glu4342Ala)
c.12977A>C (p.Glu4326Ala)
c.12965A>C (p.Glu4322Ala)
c.12827A>C (p.Glu4276Ala)
c.12674A>C (p.Glu4225Ala)
Xg.53534653C>ACA413146879HUWE1c.12478G>T (p.Glu4160Ter)
c.12694G>T (p.Glu4232Ter)
c.3161G>T
n.7G>T
c.12667G>T (p.Glu4223Ter)
c.12943G>T (p.Glu4315Ter)
c.12940G>T (p.Glu4314Ter)
c.12898G>T (p.Glu4300Ter)
c.12895G>T (p.Glu4299Ter)
c.12892G>T (p.Glu4298Ter)
c.12844G>T (p.Glu4282Ter)
c.12541G>T (p.Glu4181Ter)
c.13075G>T (p.Glu4359Ter)
c.13072G>T (p.Glu4358Ter)
c.13054G>T (p.Glu4352Ter)
c.13030G>T (p.Glu4344Ter)
c.13027G>T (p.Glu4343Ter)
c.13024G>T (p.Glu4342Ter)
c.12976G>T (p.Glu4326Ter)
c.12964G>T (p.Glu4322Ter)
c.12826G>T (p.Glu4276Ter)
c.12673G>T (p.Glu4225Ter)
Xg.53534653C>GCA413146881HUWE1c.12478G>C (p.Glu4160Gln)
c.12694G>C (p.Glu4232Gln)
c.3161G>C
n.7G>C
c.12667G>C (p.Glu4223Gln)
c.12943G>C (p.Glu4315Gln)
c.12940G>C (p.Glu4314Gln)
c.12898G>C (p.Glu4300Gln)
c.12895G>C (p.Glu4299Gln)
c.12892G>C (p.Glu4298Gln)
c.12844G>C (p.Glu4282Gln)
c.12541G>C (p.Glu4181Gln)
c.13075G>C (p.Glu4359Gln)
c.13072G>C (p.Glu4358Gln)
c.13054G>C (p.Glu4352Gln)
c.13030G>C (p.Glu4344Gln)
c.13027G>C (p.Glu4343Gln)
c.13024G>C (p.Glu4342Gln)
c.12976G>C (p.Glu4326Gln)
c.12964G>C (p.Glu4322Gln)
c.12826G>C (p.Glu4276Gln)
c.12673G>C (p.Glu4225Gln)
 gnomAD v4
Xg.53534653C>TCA413146883HUWE1c.12478G>A (p.Glu4160Lys)
c.12694G>A (p.Glu4232Lys)
c.3161G>A
n.7G>A
c.12667G>A (p.Glu4223Lys)
c.12943G>A (p.Glu4315Lys)
c.12940G>A (p.Glu4314Lys)
c.12898G>A (p.Glu4300Lys)
c.12895G>A (p.Glu4299Lys)
c.12892G>A (p.Glu4298Lys)
c.12844G>A (p.Glu4282Lys)
c.12541G>A (p.Glu4181Lys)
c.13075G>A (p.Glu4359Lys)
c.13072G>A (p.Glu4358Lys)
c.13054G>A (p.Glu4352Lys)
c.13030G>A (p.Glu4344Lys)
c.13027G>A (p.Glu4343Lys)
c.13024G>A (p.Glu4342Lys)
c.12976G>A (p.Glu4326Lys)
c.12964G>A (p.Glu4322Lys)
c.12826G>A (p.Glu4276Lys)
c.12673G>A (p.Glu4225Lys)
Xg.53534654A>CCA413146887HUWE1c.12477T>G (p.Tyr4159Ter)
c.12693T>G (p.Tyr4231Ter)
c.3160T>G
n.6T>G
c.12666T>G (p.Tyr4222Ter)
c.12942T>G (p.Tyr4314Ter)
c.12939T>G (p.Tyr4313Ter)
c.12897T>G (p.Tyr4299Ter)
c.12894T>G (p.Tyr4298Ter)
c.12891T>G (p.Tyr4297Ter)
c.12843T>G (p.Tyr4281Ter)
c.12540T>G (p.Tyr4180Ter)
c.13074T>G (p.Tyr4358Ter)
c.13071T>G (p.Tyr4357Ter)
c.13053T>G (p.Tyr4351Ter)
c.13029T>G (p.Tyr4343Ter)
c.13026T>G (p.Tyr4342Ter)
c.13023T>G (p.Tyr4341Ter)
c.12975T>G (p.Tyr4325Ter)
c.12963T>G (p.Tyr4321Ter)
c.12825T>G (p.Tyr4275Ter)
c.12672T>G (p.Tyr4224Ter)
 gnomAD v4
Xg.53534654A>GCA516420795HUWE1c.12477T>C (p.Tyr4159=)
c.12693T>C (p.Tyr4231=)
c.3160T>C
n.6T>C
c.12666T>C (p.Tyr4222=)
c.12942T>C (p.Tyr4314=)
c.12939T>C (p.Tyr4313=)
c.12897T>C (p.Tyr4299=)
c.12894T>C (p.Tyr4298=)
c.12891T>C (p.Tyr4297=)
c.12843T>C (p.Tyr4281=)
c.12540T>C (p.Tyr4180=)
c.13074T>C (p.Tyr4358=)
c.13071T>C (p.Tyr4357=)
c.13053T>C (p.Tyr4351=)
c.13029T>C (p.Tyr4343=)
c.13026T>C (p.Tyr4342=)
c.13023T>C (p.Tyr4341=)
c.12975T>C (p.Tyr4325=)
c.12963T>C (p.Tyr4321=)
c.12825T>C (p.Tyr4275=)
c.12672T>C (p.Tyr4224=)
Xg.53534654A>TCA413146890HUWE1c.12477T>A (p.Tyr4159Ter)
c.12693T>A (p.Tyr4231Ter)
c.3160T>A
n.6T>A
c.12666T>A (p.Tyr4222Ter)
c.12942T>A (p.Tyr4314Ter)
c.12939T>A (p.Tyr4313Ter)
c.12897T>A (p.Tyr4299Ter)
c.12894T>A (p.Tyr4298Ter)
c.12891T>A (p.Tyr4297Ter)
c.12843T>A (p.Tyr4281Ter)
c.12540T>A (p.Tyr4180Ter)
c.13074T>A (p.Tyr4358Ter)
c.13071T>A (p.Tyr4357Ter)
c.13053T>A (p.Tyr4351Ter)
c.13029T>A (p.Tyr4343Ter)
c.13026T>A (p.Tyr4342Ter)
c.13023T>A (p.Tyr4341Ter)
c.12975T>A (p.Tyr4325Ter)
c.12963T>A (p.Tyr4321Ter)
c.12825T>A (p.Tyr4275Ter)
c.12672T>A (p.Tyr4224Ter)
Xg.53534655T>ACA413146894HUWE1c.12476A>T (p.Tyr4159Phe)
c.12692A>T (p.Tyr4231Phe)
c.3159A>T
n.5A>T
c.12665A>T (p.Tyr4222Phe)
c.12941A>T (p.Tyr4314Phe)
c.12938A>T (p.Tyr4313Phe)
c.12896A>T (p.Tyr4299Phe)
c.12893A>T (p.Tyr4298Phe)
c.12890A>T (p.Tyr4297Phe)
c.12842A>T (p.Tyr4281Phe)
c.12539A>T (p.Tyr4180Phe)
c.13073A>T (p.Tyr4358Phe)
c.13070A>T (p.Tyr4357Phe)
c.13052A>T (p.Tyr4351Phe)
c.13028A>T (p.Tyr4343Phe)
c.13025A>T (p.Tyr4342Phe)
c.13022A>T (p.Tyr4341Phe)
c.12974A>T (p.Tyr4325Phe)
c.12962A>T (p.Tyr4321Phe)
c.12824A>T (p.Tyr4275Phe)
c.12671A>T (p.Tyr4224Phe)
Xg.53534655T>CCA413146896HUWE1c.12476A>G (p.Tyr4159Cys)
c.12692A>G (p.Tyr4231Cys)
c.3159A>G
n.5A>G
c.12665A>G (p.Tyr4222Cys)
c.12941A>G (p.Tyr4314Cys)
c.12938A>G (p.Tyr4313Cys)
c.12896A>G (p.Tyr4299Cys)
c.12893A>G (p.Tyr4298Cys)
c.12890A>G (p.Tyr4297Cys)
c.12842A>G (p.Tyr4281Cys)
c.12539A>G (p.Tyr4180Cys)
c.13073A>G (p.Tyr4358Cys)
c.13070A>G (p.Tyr4357Cys)
c.13052A>G (p.Tyr4351Cys)
c.13028A>G (p.Tyr4343Cys)
c.13025A>G (p.Tyr4342Cys)
c.13022A>G (p.Tyr4341Cys)
c.12974A>G (p.Tyr4325Cys)
c.12962A>G (p.Tyr4321Cys)
c.12824A>G (p.Tyr4275Cys)
c.12671A>G (p.Tyr4224Cys)
Xg.53534655T>GCA413146898HUWE1c.12476A>C (p.Tyr4159Ser)
c.12692A>C (p.Tyr4231Ser)
c.3159A>C
n.5A>C
c.12665A>C (p.Tyr4222Ser)
c.12941A>C (p.Tyr4314Ser)
c.12938A>C (p.Tyr4313Ser)
c.12896A>C (p.Tyr4299Ser)
c.12893A>C (p.Tyr4298Ser)
c.12890A>C (p.Tyr4297Ser)
c.12842A>C (p.Tyr4281Ser)
c.12539A>C (p.Tyr4180Ser)
c.13073A>C (p.Tyr4358Ser)
c.13070A>C (p.Tyr4357Ser)
c.13052A>C (p.Tyr4351Ser)
c.13028A>C (p.Tyr4343Ser)
c.13025A>C (p.Tyr4342Ser)
c.13022A>C (p.Tyr4341Ser)
c.12974A>C (p.Tyr4325Ser)
c.12962A>C (p.Tyr4321Ser)
c.12824A>C (p.Tyr4275Ser)
c.12671A>C (p.Tyr4224Ser)
Xg.53534656A=CA2429869120HUWE1c.12475T= (p.Tyr4159=)
c.12691T= (p.Tyr4231=)
c.3158T=
n.4T=
c.12664T= (p.Tyr4222=)
c.12940T= (p.Tyr4314=)
c.12937T= (p.Tyr4313=)
c.12895T= (p.Tyr4299=)
c.12892T= (p.Tyr4298=)
c.12889T= (p.Tyr4297=)
c.12841T= (p.Tyr4281=)
c.12538T= (p.Tyr4180=)
c.13072T= (p.Tyr4358=)
c.13069T= (p.Tyr4357=)
c.13051T= (p.Tyr4351=)
c.13027T= (p.Tyr4343=)
c.13024T= (p.Tyr4342=)
c.13021T= (p.Tyr4341=)
c.12973T= (p.Tyr4325=)
c.12961T= (p.Tyr4321=)
c.12823T= (p.Tyr4275=)
c.12670T= (p.Tyr4224=)
Xg.53534656A>CCA413146908HUWE1c.12475T>G (p.Tyr4159Asp)
c.12691T>G (p.Tyr4231Asp)
c.3158T>G
n.4T>G
c.12664T>G (p.Tyr4222Asp)
c.12940T>G (p.Tyr4314Asp)
c.12937T>G (p.Tyr4313Asp)
c.12895T>G (p.Tyr4299Asp)
c.12892T>G (p.Tyr4298Asp)
c.12889T>G (p.Tyr4297Asp)
c.12841T>G (p.Tyr4281Asp)
c.12538T>G (p.Tyr4180Asp)
c.13072T>G (p.Tyr4358Asp)
c.13069T>G (p.Tyr4357Asp)
c.13051T>G (p.Tyr4351Asp)
c.13027T>G (p.Tyr4343Asp)
c.13024T>G (p.Tyr4342Asp)
c.13021T>G (p.Tyr4341Asp)
c.12973T>G (p.Tyr4325Asp)
c.12961T>G (p.Tyr4321Asp)
c.12823T>G (p.Tyr4275Asp)
c.12670T>G (p.Tyr4224Asp)
Xg.53534656A>GCA16621451HUWE1c.12475T>C (p.Tyr4159His)
c.12691T>C (p.Tyr4231His)
c.3158T>C
n.4T>C
c.12664T>C (p.Tyr4222His)
c.12940T>C (p.Tyr4314His)
c.12937T>C (p.Tyr4313His)
c.12895T>C (p.Tyr4299His)
c.12892T>C (p.Tyr4298His)
c.12889T>C (p.Tyr4297His)
c.12841T>C (p.Tyr4281His)
c.12538T>C (p.Tyr4180His)
c.13072T>C (p.Tyr4358His)
c.13069T>C (p.Tyr4357His)
c.13051T>C (p.Tyr4351His)
c.13027T>C (p.Tyr4343His)
c.13024T>C (p.Tyr4342His)
c.13021T>C (p.Tyr4341His)
c.12973T>C (p.Tyr4325His)
c.12961T>C (p.Tyr4321His)
c.12823T>C (p.Tyr4275His)
c.12670T>C (p.Tyr4224His)
 ClinVar dbSNP
Xg.53534656A>TCA413146905HUWE1c.12475T>A (p.Tyr4159Asn)
c.12691T>A (p.Tyr4231Asn)
c.3158T>A
n.4T>A
c.12664T>A (p.Tyr4222Asn)
c.12940T>A (p.Tyr4314Asn)
c.12937T>A (p.Tyr4313Asn)
c.12895T>A (p.Tyr4299Asn)
c.12892T>A (p.Tyr4298Asn)
c.12889T>A (p.Tyr4297Asn)
c.12841T>A (p.Tyr4281Asn)
c.12538T>A (p.Tyr4180Asn)
c.13072T>A (p.Tyr4358Asn)
c.13069T>A (p.Tyr4357Asn)
c.13051T>A (p.Tyr4351Asn)
c.13027T>A (p.Tyr4343Asn)
c.13024T>A (p.Tyr4342Asn)
c.13021T>A (p.Tyr4341Asn)
c.12973T>A (p.Tyr4325Asn)
c.12961T>A (p.Tyr4321Asn)
c.12823T>A (p.Tyr4275Asn)
c.12670T>A (p.Tyr4224Asn)
Xg.53534657G>ACA516420807HUWE1c.12474C>T (p.Phe4158=)
c.12690C>T (p.Phe4230=)
c.3157C>T
n.3C>T
c.12663C>T (p.Phe4221=)
c.12939C>T (p.Phe4313=)
c.12936C>T (p.Phe4312=)
c.12894C>T (p.Phe4298=)
c.12891C>T (p.Phe4297=)
c.12888C>T (p.Phe4296=)
c.12840C>T (p.Phe4280=)
c.12537C>T (p.Phe4179=)
c.13071C>T (p.Phe4357=)
c.13068C>T (p.Phe4356=)
c.13050C>T (p.Phe4350=)
c.13026C>T (p.Phe4342=)
c.13023C>T (p.Phe4341=)
c.13020C>T (p.Phe4340=)
c.12972C>T (p.Phe4324=)
c.12960C>T (p.Phe4320=)
c.12822C>T (p.Phe4274=)
c.12669C>T (p.Phe4223=)
Xg.53534657G>CCA413146914HUWE1c.12474C>G (p.Phe4158Leu)
c.12690C>G (p.Phe4230Leu)
c.3157C>G
n.3C>G
c.12663C>G (p.Phe4221Leu)
c.12939C>G (p.Phe4313Leu)
c.12936C>G (p.Phe4312Leu)
c.12894C>G (p.Phe4298Leu)
c.12891C>G (p.Phe4297Leu)
c.12888C>G (p.Phe4296Leu)
c.12840C>G (p.Phe4280Leu)
c.12537C>G (p.Phe4179Leu)
c.13071C>G (p.Phe4357Leu)
c.13068C>G (p.Phe4356Leu)
c.13050C>G (p.Phe4350Leu)
c.13026C>G (p.Phe4342Leu)
c.13023C>G (p.Phe4341Leu)
c.13020C>G (p.Phe4340Leu)
c.12972C>G (p.Phe4324Leu)
c.12960C>G (p.Phe4320Leu)
c.12822C>G (p.Phe4274Leu)
c.12669C>G (p.Phe4223Leu)
Xg.53534657G>TCA413146916HUWE1c.12474C>A (p.Phe4158Leu)
c.12690C>A (p.Phe4230Leu)
c.3157C>A
n.3C>A
c.12663C>A (p.Phe4221Leu)
c.12939C>A (p.Phe4313Leu)
c.12936C>A (p.Phe4312Leu)
c.12894C>A (p.Phe4298Leu)
c.12891C>A (p.Phe4297Leu)
c.12888C>A (p.Phe4296Leu)
c.12840C>A (p.Phe4280Leu)
c.12537C>A (p.Phe4179Leu)
c.13071C>A (p.Phe4357Leu)
c.13068C>A (p.Phe4356Leu)
c.13050C>A (p.Phe4350Leu)
c.13026C>A (p.Phe4342Leu)
c.13023C>A (p.Phe4341Leu)
c.13020C>A (p.Phe4340Leu)
c.12972C>A (p.Phe4324Leu)
c.12960C>A (p.Phe4320Leu)
c.12822C>A (p.Phe4274Leu)
c.12669C>A (p.Phe4223Leu)
 COSMIC COSMIC
Xg.53534658A>CCA413146921HUWE1c.12473T>G (p.Phe4158Cys)
c.12689T>G (p.Phe4230Cys)
c.3156T>G
n.2T>G
c.12662T>G (p.Phe4221Cys)
c.12938T>G (p.Phe4313Cys)
c.12935T>G (p.Phe4312Cys)
c.12893T>G (p.Phe4298Cys)
c.12890T>G (p.Phe4297Cys)
c.12887T>G (p.Phe4296Cys)
c.12839T>G (p.Phe4280Cys)
c.12536T>G (p.Phe4179Cys)
c.13070T>G (p.Phe4357Cys)
c.13067T>G (p.Phe4356Cys)
c.13049T>G (p.Phe4350Cys)
c.13025T>G (p.Phe4342Cys)
c.13022T>G (p.Phe4341Cys)
c.13019T>G (p.Phe4340Cys)
c.12971T>G (p.Phe4324Cys)
c.12959T>G (p.Phe4320Cys)
c.12821T>G (p.Phe4274Cys)
c.12668T>G (p.Phe4223Cys)
Xg.53534658A>GCA413146926HUWE1c.12473T>C (p.Phe4158Ser)
c.12689T>C (p.Phe4230Ser)
c.3156T>C
n.2T>C
c.12662T>C (p.Phe4221Ser)
c.12938T>C (p.Phe4313Ser)
c.12935T>C (p.Phe4312Ser)
c.12893T>C (p.Phe4298Ser)
c.12890T>C (p.Phe4297Ser)
c.12887T>C (p.Phe4296Ser)
c.12839T>C (p.Phe4280Ser)
c.12536T>C (p.Phe4179Ser)
c.13070T>C (p.Phe4357Ser)
c.13067T>C (p.Phe4356Ser)
c.13049T>C (p.Phe4350Ser)
c.13025T>C (p.Phe4342Ser)
c.13022T>C (p.Phe4341Ser)
c.13019T>C (p.Phe4340Ser)
c.12971T>C (p.Phe4324Ser)
c.12959T>C (p.Phe4320Ser)
c.12821T>C (p.Phe4274Ser)
c.12668T>C (p.Phe4223Ser)
Xg.53534658A>TCA413146928HUWE1c.12473T>A (p.Phe4158Tyr)
c.12689T>A (p.Phe4230Tyr)
c.3156T>A
n.2T>A
c.12662T>A (p.Phe4221Tyr)
c.12938T>A (p.Phe4313Tyr)
c.12935T>A (p.Phe4312Tyr)
c.12893T>A (p.Phe4298Tyr)
c.12890T>A (p.Phe4297Tyr)
c.12887T>A (p.Phe4296Tyr)
c.12839T>A (p.Phe4280Tyr)
c.12536T>A (p.Phe4179Tyr)
c.13070T>A (p.Phe4357Tyr)
c.13067T>A (p.Phe4356Tyr)
c.13049T>A (p.Phe4350Tyr)
c.13025T>A (p.Phe4342Tyr)
c.13022T>A (p.Phe4341Tyr)
c.13019T>A (p.Phe4340Tyr)
c.12971T>A (p.Phe4324Tyr)
c.12959T>A (p.Phe4320Tyr)
c.12821T>A (p.Phe4274Tyr)
c.12668T>A (p.Phe4223Tyr)
Xg.53534659A>CCA413146932HUWE1c.12472T>G (p.Phe4158Val)
c.12688T>G (p.Phe4230Val)
c.3155T>G
n.1T>G
c.12661T>G (p.Phe4221Val)
c.12937T>G (p.Phe4313Val)
c.12934T>G (p.Phe4312Val)
c.12892T>G (p.Phe4298Val)
c.12889T>G (p.Phe4297Val)
c.12886T>G (p.Phe4296Val)
c.12838T>G (p.Phe4280Val)
c.12535T>G (p.Phe4179Val)
c.13069T>G (p.Phe4357Val)
c.13066T>G (p.Phe4356Val)
c.13048T>G (p.Phe4350Val)
c.13024T>G (p.Phe4342Val)
c.13021T>G (p.Phe4341Val)
c.13018T>G (p.Phe4340Val)
c.12970T>G (p.Phe4324Val)
c.12958T>G (p.Phe4320Val)
c.12820T>G (p.Phe4274Val)
c.12667T>G (p.Phe4223Val)
Xg.53534659A>GCA413146934HUWE1c.12472T>C (p.Phe4158Leu)
c.12688T>C (p.Phe4230Leu)
c.3155T>C
n.1T>C
c.12661T>C (p.Phe4221Leu)
c.12937T>C (p.Phe4313Leu)
c.12934T>C (p.Phe4312Leu)
c.12892T>C (p.Phe4298Leu)
c.12889T>C (p.Phe4297Leu)
c.12886T>C (p.Phe4296Leu)
c.12838T>C (p.Phe4280Leu)
c.12535T>C (p.Phe4179Leu)
c.13069T>C (p.Phe4357Leu)
c.13066T>C (p.Phe4356Leu)
c.13048T>C (p.Phe4350Leu)
c.13024T>C (p.Phe4342Leu)
c.13021T>C (p.Phe4341Leu)
c.13018T>C (p.Phe4340Leu)
c.12970T>C (p.Phe4324Leu)
c.12958T>C (p.Phe4320Leu)
c.12820T>C (p.Phe4274Leu)
c.12667T>C (p.Phe4223Leu)
Xg.53534659A>TCA413146937HUWE1c.12472T>A (p.Phe4158Ile)
c.12688T>A (p.Phe4230Ile)
c.3155T>A
n.1T>A
c.12661T>A (p.Phe4221Ile)
c.12937T>A (p.Phe4313Ile)
c.12934T>A (p.Phe4312Ile)
c.12892T>A (p.Phe4298Ile)
c.12889T>A (p.Phe4297Ile)
c.12886T>A (p.Phe4296Ile)
c.12838T>A (p.Phe4280Ile)
c.12535T>A (p.Phe4179Ile)
c.13069T>A (p.Phe4357Ile)
c.13066T>A (p.Phe4356Ile)
c.13048T>A (p.Phe4350Ile)
c.13024T>A (p.Phe4342Ile)
c.13021T>A (p.Phe4341Ile)
c.13018T>A (p.Phe4340Ile)
c.12970T>A (p.Phe4324Ile)
c.12958T>A (p.Phe4320Ile)
c.12820T>A (p.Phe4274Ile)
c.12667T>A (p.Phe4223Ile)
Xg.53534660G>ACA516420832HUWE1c.12471C>T (p.Gly4157=)
c.12687C>T (p.Gly4229=)
c.3154C>T
c.12660C>T (p.Gly4220=)
c.12936C>T (p.Gly4312=)
c.12933C>T (p.Gly4311=)
c.12891C>T (p.Gly4297=)
c.12888C>T (p.Gly4296=)
c.12885C>T (p.Gly4295=)
c.12837C>T (p.Gly4279=)
c.12534C>T (p.Gly4178=)
c.13068C>T (p.Gly4356=)
c.13065C>T (p.Gly4355=)
c.13047C>T (p.Gly4349=)
c.13023C>T (p.Gly4341=)
c.13020C>T (p.Gly4340=)
c.13017C>T (p.Gly4339=)
c.12969C>T (p.Gly4323=)
c.12957C>T (p.Gly4319=)
c.12819C>T (p.Gly4273=)
c.12666C>T (p.Gly4222=)
Xg.53534660G>CCA516420837HUWE1c.12471C>G (p.Gly4157=)
c.12687C>G (p.Gly4229=)
c.3154C>G
c.12660C>G (p.Gly4220=)
c.12936C>G (p.Gly4312=)
c.12933C>G (p.Gly4311=)
c.12891C>G (p.Gly4297=)
c.12888C>G (p.Gly4296=)
c.12885C>G (p.Gly4295=)
c.12837C>G (p.Gly4279=)
c.12534C>G (p.Gly4178=)
c.13068C>G (p.Gly4356=)
c.13065C>G (p.Gly4355=)
c.13047C>G (p.Gly4349=)
c.13023C>G (p.Gly4341=)
c.13020C>G (p.Gly4340=)
c.13017C>G (p.Gly4339=)
c.12969C>G (p.Gly4323=)
c.12957C>G (p.Gly4319=)
c.12819C>G (p.Gly4273=)
c.12666C>G (p.Gly4222=)
Xg.53534660G>TCA516420835HUWE1c.12471C>A (p.Gly4157=)
c.12687C>A (p.Gly4229=)
c.3154C>A
c.12660C>A (p.Gly4220=)
c.12936C>A (p.Gly4312=)
c.12933C>A (p.Gly4311=)
c.12891C>A (p.Gly4297=)
c.12888C>A (p.Gly4296=)
c.12885C>A (p.Gly4295=)
c.12837C>A (p.Gly4279=)
c.12534C>A (p.Gly4178=)
c.13068C>A (p.Gly4356=)
c.13065C>A (p.Gly4355=)
c.13047C>A (p.Gly4349=)
c.13023C>A (p.Gly4341=)
c.13020C>A (p.Gly4340=)
c.13017C>A (p.Gly4339=)
c.12969C>A (p.Gly4323=)
c.12957C>A (p.Gly4319=)
c.12819C>A (p.Gly4273=)
c.12666C>A (p.Gly4222=)
Xg.53534661C>ACA413146942HUWE1c.12470G>T (p.Gly4157Val)
c.12686G>T (p.Gly4229Val)
c.3153G>T
c.12659G>T (p.Gly4220Val)
c.12935G>T (p.Gly4312Val)
c.12932G>T (p.Gly4311Val)
c.12890G>T (p.Gly4297Val)
c.12887G>T (p.Gly4296Val)
c.12884G>T (p.Gly4295Val)
c.12836G>T (p.Gly4279Val)
c.12533G>T (p.Gly4178Val)
c.13067G>T (p.Gly4356Val)
c.13064G>T (p.Gly4355Val)
c.13046G>T (p.Gly4349Val)
c.13022G>T (p.Gly4341Val)
c.13019G>T (p.Gly4340Val)
c.13016G>T (p.Gly4339Val)
c.12968G>T (p.Gly4323Val)
c.12956G>T (p.Gly4319Val)
c.12818G>T (p.Gly4273Val)
c.12665G>T (p.Gly4222Val)
 COSMIC COSMIC
Xg.53534661C>GCA413146944HUWE1c.12470G>C (p.Gly4157Ala)
c.12686G>C (p.Gly4229Ala)
c.3153G>C
c.12659G>C (p.Gly4220Ala)
c.12935G>C (p.Gly4312Ala)
c.12932G>C (p.Gly4311Ala)
c.12890G>C (p.Gly4297Ala)
c.12887G>C (p.Gly4296Ala)
c.12884G>C (p.Gly4295Ala)
c.12836G>C (p.Gly4279Ala)
c.12533G>C (p.Gly4178Ala)
c.13067G>C (p.Gly4356Ala)
c.13064G>C (p.Gly4355Ala)
c.13046G>C (p.Gly4349Ala)
c.13022G>C (p.Gly4341Ala)
c.13019G>C (p.Gly4340Ala)
c.13016G>C (p.Gly4339Ala)
c.12968G>C (p.Gly4323Ala)
c.12956G>C (p.Gly4319Ala)
c.12818G>C (p.Gly4273Ala)
c.12665G>C (p.Gly4222Ala)
Xg.53534661C>TCA413146947HUWE1c.12470G>A (p.Gly4157Asp)
c.12686G>A (p.Gly4229Asp)
c.3153G>A
c.12659G>A (p.Gly4220Asp)
c.12935G>A (p.Gly4312Asp)
c.12932G>A (p.Gly4311Asp)
c.12890G>A (p.Gly4297Asp)
c.12887G>A (p.Gly4296Asp)
c.12884G>A (p.Gly4295Asp)
c.12836G>A (p.Gly4279Asp)
c.12533G>A (p.Gly4178Asp)
c.13067G>A (p.Gly4356Asp)
c.13064G>A (p.Gly4355Asp)
c.13046G>A (p.Gly4349Asp)
c.13022G>A (p.Gly4341Asp)
c.13019G>A (p.Gly4340Asp)
c.13016G>A (p.Gly4339Asp)
c.12968G>A (p.Gly4323Asp)
c.12956G>A (p.Gly4319Asp)
c.12818G>A (p.Gly4273Asp)
c.12665G>A (p.Gly4222Asp)
Xg.53534662C>ACA413146949HUWE1c.12469G>T (p.Gly4157Cys)
c.12685G>T (p.Gly4229Cys)
c.3152G>T
c.12658G>T (p.Gly4220Cys)
c.12934G>T (p.Gly4312Cys)
c.12931G>T (p.Gly4311Cys)
c.12889G>T (p.Gly4297Cys)
c.12886G>T (p.Gly4296Cys)
c.12883G>T (p.Gly4295Cys)
c.12835G>T (p.Gly4279Cys)
c.12532G>T (p.Gly4178Cys)
c.13066G>T (p.Gly4356Cys)
c.13063G>T (p.Gly4355Cys)
c.13045G>T (p.Gly4349Cys)
c.13021G>T (p.Gly4341Cys)
c.13018G>T (p.Gly4340Cys)
c.13015G>T (p.Gly4339Cys)
c.12967G>T (p.Gly4323Cys)
c.12955G>T (p.Gly4319Cys)
c.12817G>T (p.Gly4273Cys)
c.12664G>T (p.Gly4222Cys)
Xg.53534662C>GCA413146952HUWE1c.12469G>C (p.Gly4157Arg)
c.12685G>C (p.Gly4229Arg)
c.3152G>C
c.12658G>C (p.Gly4220Arg)
c.12934G>C (p.Gly4312Arg)
c.12931G>C (p.Gly4311Arg)
c.12889G>C (p.Gly4297Arg)
c.12886G>C (p.Gly4296Arg)
c.12883G>C (p.Gly4295Arg)
c.12835G>C (p.Gly4279Arg)
c.12532G>C (p.Gly4178Arg)
c.13066G>C (p.Gly4356Arg)
c.13063G>C (p.Gly4355Arg)
c.13045G>C (p.Gly4349Arg)
c.13021G>C (p.Gly4341Arg)
c.13018G>C (p.Gly4340Arg)
c.13015G>C (p.Gly4339Arg)
c.12967G>C (p.Gly4323Arg)
c.12955G>C (p.Gly4319Arg)
c.12817G>C (p.Gly4273Arg)
c.12664G>C (p.Gly4222Arg)
Xg.53534662C>TCA413146954HUWE1c.12469G>A (p.Gly4157Ser)
c.12685G>A (p.Gly4229Ser)
c.3152G>A
c.12658G>A (p.Gly4220Ser)
c.12934G>A (p.Gly4312Ser)
c.12931G>A (p.Gly4311Ser)
c.12889G>A (p.Gly4297Ser)
c.12886G>A (p.Gly4296Ser)
c.12883G>A (p.Gly4295Ser)
c.12835G>A (p.Gly4279Ser)
c.12532G>A (p.Gly4178Ser)
c.13066G>A (p.Gly4356Ser)
c.13063G>A (p.Gly4355Ser)
c.13045G>A (p.Gly4349Ser)
c.13021G>A (p.Gly4341Ser)
c.13018G>A (p.Gly4340Ser)
c.13015G>A (p.Gly4339Ser)
c.12967G>A (p.Gly4323Ser)
c.12955G>A (p.Gly4319Ser)
c.12817G>A (p.Gly4273Ser)
c.12664G>A (p.Gly4222Ser)
 gnomAD v4
Xg.53534663T>ACA413146958HUWE1c.12468A>T (p.Glu4156Asp)
c.12684A>T (p.Glu4228Asp)
c.3151A>T
c.12657A>T (p.Glu4219Asp)
c.12933A>T (p.Glu4311Asp)
c.12930A>T (p.Glu4310Asp)
c.12888A>T (p.Glu4296Asp)
c.12885A>T (p.Glu4295Asp)
c.12882A>T (p.Glu4294Asp)
c.12834A>T (p.Glu4278Asp)
c.12531A>T (p.Glu4177Asp)
c.13065A>T (p.Glu4355Asp)
c.13062A>T (p.Glu4354Asp)
c.13044A>T (p.Glu4348Asp)
c.13020A>T (p.Glu4340Asp)
c.13017A>T (p.Glu4339Asp)
c.13014A>T (p.Glu4338Asp)
c.12966A>T (p.Glu4322Asp)
c.12954A>T (p.Glu4318Asp)
c.12816A>T (p.Glu4272Asp)
c.12663A>T (p.Glu4221Asp)
Xg.53534663T>CCA516420857HUWE1c.12468A>G (p.Glu4156=)
c.12684A>G (p.Glu4228=)
c.3151A>G
c.12657A>G (p.Glu4219=)
c.12933A>G (p.Glu4311=)
c.12930A>G (p.Glu4310=)
c.12888A>G (p.Glu4296=)
c.12885A>G (p.Glu4295=)
c.12882A>G (p.Glu4294=)
c.12834A>G (p.Glu4278=)
c.12531A>G (p.Glu4177=)
c.13065A>G (p.Glu4355=)
c.13062A>G (p.Glu4354=)
c.13044A>G (p.Glu4348=)
c.13020A>G (p.Glu4340=)
c.13017A>G (p.Glu4339=)
c.13014A>G (p.Glu4338=)
c.12966A>G (p.Glu4322=)
c.12954A>G (p.Glu4318=)
c.12816A>G (p.Glu4272=)
c.12663A>G (p.Glu4221=)
Xg.53534663T>GCA413146960HUWE1c.12468A>C (p.Glu4156Asp)
c.12684A>C (p.Glu4228Asp)
c.3151A>C
c.12657A>C (p.Glu4219Asp)
c.12933A>C (p.Glu4311Asp)
c.12930A>C (p.Glu4310Asp)
c.12888A>C (p.Glu4296Asp)
c.12885A>C (p.Glu4295Asp)
c.12882A>C (p.Glu4294Asp)
c.12834A>C (p.Glu4278Asp)
c.12531A>C (p.Glu4177Asp)
c.13065A>C (p.Glu4355Asp)
c.13062A>C (p.Glu4354Asp)
c.13044A>C (p.Glu4348Asp)
c.13020A>C (p.Glu4340Asp)
c.13017A>C (p.Glu4339Asp)
c.13014A>C (p.Glu4338Asp)
c.12966A>C (p.Glu4322Asp)
c.12954A>C (p.Glu4318Asp)
c.12816A>C (p.Glu4272Asp)
c.12663A>C (p.Glu4221Asp)
Xg.53534664T>ACA413146962HUWE1c.12467A>T (p.Glu4156Val)
c.12683A>T (p.Glu4228Val)
c.3150A>T
c.12656A>T (p.Glu4219Val)
c.12932A>T (p.Glu4311Val)
c.12929A>T (p.Glu4310Val)
c.12887A>T (p.Glu4296Val)
c.12884A>T (p.Glu4295Val)
c.12881A>T (p.Glu4294Val)
c.12833A>T (p.Glu4278Val)
c.12530A>T (p.Glu4177Val)
c.13064A>T (p.Glu4355Val)
c.13061A>T (p.Glu4354Val)
c.13043A>T (p.Glu4348Val)
c.13019A>T (p.Glu4340Val)
c.13016A>T (p.Glu4339Val)
c.13013A>T (p.Glu4338Val)
c.12965A>T (p.Glu4322Val)
c.12953A>T (p.Glu4318Val)
c.12815A>T (p.Glu4272Val)
c.12662A>T (p.Glu4221Val)
Xg.53534664T>CCA413146964HUWE1c.12467A>G (p.Glu4156Gly)
c.12683A>G (p.Glu4228Gly)
c.3150A>G
c.12656A>G (p.Glu4219Gly)
c.12932A>G (p.Glu4311Gly)
c.12929A>G (p.Glu4310Gly)
c.12887A>G (p.Glu4296Gly)
c.12884A>G (p.Glu4295Gly)
c.12881A>G (p.Glu4294Gly)
c.12833A>G (p.Glu4278Gly)
c.12530A>G (p.Glu4177Gly)
c.13064A>G (p.Glu4355Gly)
c.13061A>G (p.Glu4354Gly)
c.13043A>G (p.Glu4348Gly)
c.13019A>G (p.Glu4340Gly)
c.13016A>G (p.Glu4339Gly)
c.13013A>G (p.Glu4338Gly)
c.12965A>G (p.Glu4322Gly)
c.12953A>G (p.Glu4318Gly)
c.12815A>G (p.Glu4272Gly)
c.12662A>G (p.Glu4221Gly)
Xg.53534664T>GCA413146966HUWE1c.12467A>C (p.Glu4156Ala)
c.12683A>C (p.Glu4228Ala)
c.3150A>C
c.12656A>C (p.Glu4219Ala)
c.12932A>C (p.Glu4311Ala)
c.12929A>C (p.Glu4310Ala)
c.12887A>C (p.Glu4296Ala)
c.12884A>C (p.Glu4295Ala)
c.12881A>C (p.Glu4294Ala)
c.12833A>C (p.Glu4278Ala)
c.12530A>C (p.Glu4177Ala)
c.13064A>C (p.Glu4355Ala)
c.13061A>C (p.Glu4354Ala)
c.13043A>C (p.Glu4348Ala)
c.13019A>C (p.Glu4340Ala)
c.13016A>C (p.Glu4339Ala)
c.13013A>C (p.Glu4338Ala)
c.12965A>C (p.Glu4322Ala)
c.12953A>C (p.Glu4318Ala)
c.12815A>C (p.Glu4272Ala)
c.12662A>C (p.Glu4221Ala)
Xg.53534665C>ACA413146968HUWE1c.12466G>T (p.Glu4156Ter)
c.12682G>T (p.Glu4228Ter)
c.3149G>T
c.12655G>T (p.Glu4219Ter)
c.12931G>T (p.Glu4311Ter)
c.12928G>T (p.Glu4310Ter)
c.12886G>T (p.Glu4296Ter)
c.12883G>T (p.Glu4295Ter)
c.12880G>T (p.Glu4294Ter)
c.12832G>T (p.Glu4278Ter)
c.12529G>T (p.Glu4177Ter)
c.13063G>T (p.Glu4355Ter)
c.13060G>T (p.Glu4354Ter)
c.13042G>T (p.Glu4348Ter)
c.13018G>T (p.Glu4340Ter)
c.13015G>T (p.Glu4339Ter)
c.13012G>T (p.Glu4338Ter)
c.12964G>T (p.Glu4322Ter)
c.12952G>T (p.Glu4318Ter)
c.12814G>T (p.Glu4272Ter)
c.12661G>T (p.Glu4221Ter)
Xg.53534665C>GCA413146969HUWE1c.12466G>C (p.Glu4156Gln)
c.12682G>C (p.Glu4228Gln)
c.3149G>C
c.12655G>C (p.Glu4219Gln)
c.12931G>C (p.Glu4311Gln)
c.12928G>C (p.Glu4310Gln)
c.12886G>C (p.Glu4296Gln)
c.12883G>C (p.Glu4295Gln)
c.12880G>C (p.Glu4294Gln)
c.12832G>C (p.Glu4278Gln)
c.12529G>C (p.Glu4177Gln)
c.13063G>C (p.Glu4355Gln)
c.13060G>C (p.Glu4354Gln)
c.13042G>C (p.Glu4348Gln)
c.13018G>C (p.Glu4340Gln)
c.13015G>C (p.Glu4339Gln)
c.13012G>C (p.Glu4338Gln)
c.12964G>C (p.Glu4322Gln)
c.12952G>C (p.Glu4318Gln)
c.12814G>C (p.Glu4272Gln)
c.12661G>C (p.Glu4221Gln)
 gnomAD v4
Xg.53534665C>TCA413146970HUWE1c.12466G>A (p.Glu4156Lys)
c.12682G>A (p.Glu4228Lys)
c.3149G>A
c.12655G>A (p.Glu4219Lys)
c.12931G>A (p.Glu4311Lys)
c.12928G>A (p.Glu4310Lys)
c.12886G>A (p.Glu4296Lys)
c.12883G>A (p.Glu4295Lys)
c.12880G>A (p.Glu4294Lys)
c.12832G>A (p.Glu4278Lys)
c.12529G>A (p.Glu4177Lys)
c.13063G>A (p.Glu4355Lys)
c.13060G>A (p.Glu4354Lys)
c.13042G>A (p.Glu4348Lys)
c.13018G>A (p.Glu4340Lys)
c.13015G>A (p.Glu4339Lys)
c.13012G>A (p.Glu4338Lys)
c.12964G>A (p.Glu4322Lys)
c.12952G>A (p.Glu4318Lys)
c.12814G>A (p.Glu4272Lys)
c.12661G>A (p.Glu4221Lys)
Xg.53534666T>ACA413146973HUWE1c.12465A>T (p.Leu4155Phe)
c.12681A>T (p.Leu4227Phe)
c.3148A>T
c.12654A>T (p.Leu4218Phe)
c.12930A>T (p.Leu4310Phe)
c.12927A>T (p.Leu4309Phe)
c.12885A>T (p.Leu4295Phe)
c.12882A>T (p.Leu4294Phe)
c.12879A>T (p.Leu4293Phe)
c.12831A>T (p.Leu4277Phe)
c.12528A>T (p.Leu4176Phe)
c.13062A>T (p.Leu4354Phe)
c.13059A>T (p.Leu4353Phe)
c.13041A>T (p.Leu4347Phe)
c.13017A>T (p.Leu4339Phe)
c.13014A>T (p.Leu4338Phe)
c.13011A>T (p.Leu4337Phe)
c.12963A>T (p.Leu4321Phe)
c.12951A>T (p.Leu4317Phe)
c.12813A>T (p.Leu4271Phe)
c.12660A>T (p.Leu4220Phe)
Xg.53534666T>CCA516420871HUWE1c.12465A>G (p.Leu4155=)
c.12681A>G (p.Leu4227=)
c.3148A>G
c.12654A>G (p.Leu4218=)
c.12930A>G (p.Leu4310=)
c.12927A>G (p.Leu4309=)
c.12885A>G (p.Leu4295=)
c.12882A>G (p.Leu4294=)
c.12879A>G (p.Leu4293=)
c.12831A>G (p.Leu4277=)
c.12528A>G (p.Leu4176=)
c.13062A>G (p.Leu4354=)
c.13059A>G (p.Leu4353=)
c.13041A>G (p.Leu4347=)
c.13017A>G (p.Leu4339=)
c.13014A>G (p.Leu4338=)
c.13011A>G (p.Leu4337=)
c.12963A>G (p.Leu4321=)
c.12951A>G (p.Leu4317=)
c.12813A>G (p.Leu4271=)
c.12660A>G (p.Leu4220=)
Xg.53534666T>GCA413146975HUWE1c.12465A>C (p.Leu4155Phe)
c.12681A>C (p.Leu4227Phe)
c.3148A>C
c.12654A>C (p.Leu4218Phe)
c.12930A>C (p.Leu4310Phe)
c.12927A>C (p.Leu4309Phe)
c.12885A>C (p.Leu4295Phe)
c.12882A>C (p.Leu4294Phe)
c.12879A>C (p.Leu4293Phe)
c.12831A>C (p.Leu4277Phe)
c.12528A>C (p.Leu4176Phe)
c.13062A>C (p.Leu4354Phe)
c.13059A>C (p.Leu4353Phe)
c.13041A>C (p.Leu4347Phe)
c.13017A>C (p.Leu4339Phe)
c.13014A>C (p.Leu4338Phe)
c.13011A>C (p.Leu4337Phe)
c.12963A>C (p.Leu4321Phe)
c.12951A>C (p.Leu4317Phe)
c.12813A>C (p.Leu4271Phe)
c.12660A>C (p.Leu4220Phe)
Xg.53534667A=CA2429869121HUWE1c.12464T= (p.Leu4155=)
c.12680T= (p.Leu4227=)
c.3147T=
c.12653T= (p.Leu4218=)
c.12929T= (p.Leu4310=)
c.12926T= (p.Leu4309=)
c.12884T= (p.Leu4295=)
c.12881T= (p.Leu4294=)
c.12878T= (p.Leu4293=)
c.12830T= (p.Leu4277=)
c.12527T= (p.Leu4176=)
c.13061T= (p.Leu4354=)
c.13058T= (p.Leu4353=)
c.13040T= (p.Leu4347=)
c.13016T= (p.Leu4339=)
c.13013T= (p.Leu4338=)
c.13010T= (p.Leu4337=)
c.12962T= (p.Leu4321=)
c.12950T= (p.Leu4317=)
c.12812T= (p.Leu4271=)
c.12659T= (p.Leu4220=)
Xg.53534667A>CCA413146977HUWE1c.12464T>G (p.Leu4155Ter)
c.12680T>G (p.Leu4227Ter)
c.3147T>G
c.12653T>G (p.Leu4218Ter)
c.12929T>G (p.Leu4310Ter)
c.12926T>G (p.Leu4309Ter)
c.12884T>G (p.Leu4295Ter)
c.12881T>G (p.Leu4294Ter)
c.12878T>G (p.Leu4293Ter)
c.12830T>G (p.Leu4277Ter)
c.12527T>G (p.Leu4176Ter)
c.13061T>G (p.Leu4354Ter)
c.13058T>G (p.Leu4353Ter)
c.13040T>G (p.Leu4347Ter)
c.13016T>G (p.Leu4339Ter)
c.13013T>G (p.Leu4338Ter)
c.13010T>G (p.Leu4337Ter)
c.12962T>G (p.Leu4321Ter)
c.12950T>G (p.Leu4317Ter)
c.12812T>G (p.Leu4271Ter)
c.12659T>G (p.Leu4220Ter)
Xg.53534667A>GCA16043268HUWE1c.12464T>C (p.Leu4155Ser)
c.12680T>C (p.Leu4227Ser)
c.3147T>C
c.12653T>C (p.Leu4218Ser)
c.12929T>C (p.Leu4310Ser)
c.12926T>C (p.Leu4309Ser)
c.12884T>C (p.Leu4295Ser)
c.12881T>C (p.Leu4294Ser)
c.12878T>C (p.Leu4293Ser)
c.12830T>C (p.Leu4277Ser)
c.12527T>C (p.Leu4176Ser)
c.13061T>C (p.Leu4354Ser)
c.13058T>C (p.Leu4353Ser)
c.13040T>C (p.Leu4347Ser)
c.13016T>C (p.Leu4339Ser)
c.13013T>C (p.Leu4338Ser)
c.13010T>C (p.Leu4337Ser)
c.12962T>C (p.Leu4321Ser)
c.12950T>C (p.Leu4317Ser)
c.12812T>C (p.Leu4271Ser)
c.12659T>C (p.Leu4220Ser)
 ClinVar dbSNP
Xg.53534667A>TCA413146981HUWE1c.12464T>A (p.Leu4155Ter)
c.12680T>A (p.Leu4227Ter)
c.3147T>A
c.12653T>A (p.Leu4218Ter)
c.12929T>A (p.Leu4310Ter)
c.12926T>A (p.Leu4309Ter)
c.12884T>A (p.Leu4295Ter)
c.12881T>A (p.Leu4294Ter)
c.12878T>A (p.Leu4293Ter)
c.12830T>A (p.Leu4277Ter)
c.12527T>A (p.Leu4176Ter)
c.13061T>A (p.Leu4354Ter)
c.13058T>A (p.Leu4353Ter)
c.13040T>A (p.Leu4347Ter)
c.13016T>A (p.Leu4339Ter)
c.13013T>A (p.Leu4338Ter)
c.13010T>A (p.Leu4337Ter)
c.12962T>A (p.Leu4321Ter)
c.12950T>A (p.Leu4317Ter)
c.12812T>A (p.Leu4271Ter)
c.12659T>A (p.Leu4220Ter)
Xg.53534668delCA2579616546HUWE1c.12464del (p.Leu4155Ter)
c.12680del (p.Leu4227Ter)
c.3147del
c.12653del (p.Leu4218Ter)
c.12929del (p.Leu4310Ter)
c.12926del (p.Leu4309Ter)
c.12884del (p.Leu4295Ter)
c.12881del (p.Leu4294Ter)
c.12878del (p.Leu4293Ter)
c.12830del (p.Leu4277Ter)
c.12527del (p.Leu4176Ter)
c.13061del (p.Leu4354Ter)
c.13058del (p.Leu4353Ter)
c.13040del (p.Leu4347Ter)
c.13016del (p.Leu4339Ter)
c.13013del (p.Leu4338Ter)
c.13010del (p.Leu4337Ter)
c.12962del (p.Leu4321Ter)
c.12950del (p.Leu4317Ter)
c.12812del (p.Leu4271Ter)
c.12659del (p.Leu4220Ter)

Number of alleles fetched