Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53534116T>ACA413144567HUWE1c.12697A>T (p.Lys4233Ter)
c.12913A>T (p.Lys4305Ter)
c.3380A>T
n.226A>T
c.12886A>T (p.Lys4296Ter)
c.13162A>T (p.Lys4388Ter)
c.13159A>T (p.Lys4387Ter)
c.13117A>T (p.Lys4373Ter)
c.13114A>T (p.Lys4372Ter)
c.13111A>T (p.Lys4371Ter)
c.13063A>T (p.Lys4355Ter)
c.12760A>T (p.Lys4254Ter)
c.13294A>T (p.Lys4432Ter)
c.13291A>T (p.Lys4431Ter)
c.13273A>T (p.Lys4425Ter)
c.13249A>T (p.Lys4417Ter)
c.13246A>T (p.Lys4416Ter)
c.13243A>T (p.Lys4415Ter)
c.13195A>T (p.Lys4399Ter)
c.13183A>T (p.Lys4395Ter)
c.13045A>T (p.Lys4349Ter)
c.12892A>T (p.Lys4298Ter)
Xg.53534116T>CCA413144582HUWE1c.12697A>G (p.Lys4233Glu)
c.12913A>G (p.Lys4305Glu)
c.3380A>G
n.226A>G
c.12886A>G (p.Lys4296Glu)
c.13162A>G (p.Lys4388Glu)
c.13159A>G (p.Lys4387Glu)
c.13117A>G (p.Lys4373Glu)
c.13114A>G (p.Lys4372Glu)
c.13111A>G (p.Lys4371Glu)
c.13063A>G (p.Lys4355Glu)
c.12760A>G (p.Lys4254Glu)
c.13294A>G (p.Lys4432Glu)
c.13291A>G (p.Lys4431Glu)
c.13273A>G (p.Lys4425Glu)
c.13249A>G (p.Lys4417Glu)
c.13246A>G (p.Lys4416Glu)
c.13243A>G (p.Lys4415Glu)
c.13195A>G (p.Lys4399Glu)
c.13183A>G (p.Lys4395Glu)
c.13045A>G (p.Lys4349Glu)
c.12892A>G (p.Lys4298Glu)
Xg.53534116T>GCA413144583HUWE1c.12697A>C (p.Lys4233Gln)
c.12913A>C (p.Lys4305Gln)
c.3380A>C
n.226A>C
c.12886A>C (p.Lys4296Gln)
c.13162A>C (p.Lys4388Gln)
c.13159A>C (p.Lys4387Gln)
c.13117A>C (p.Lys4373Gln)
c.13114A>C (p.Lys4372Gln)
c.13111A>C (p.Lys4371Gln)
c.13063A>C (p.Lys4355Gln)
c.12760A>C (p.Lys4254Gln)
c.13294A>C (p.Lys4432Gln)
c.13291A>C (p.Lys4431Gln)
c.13273A>C (p.Lys4425Gln)
c.13249A>C (p.Lys4417Gln)
c.13246A>C (p.Lys4416Gln)
c.13243A>C (p.Lys4415Gln)
c.13195A>C (p.Lys4399Gln)
c.13183A>C (p.Lys4395Gln)
c.13045A>C (p.Lys4349Gln)
c.12892A>C (p.Lys4298Gln)
Xg.53534117G>ACA516418962HUWE1c.12696C>T (p.Ser4232=)
c.12912C>T (p.Ser4304=)
c.3379C>T
n.225C>T
c.12885C>T (p.Ser4295=)
c.13161C>T (p.Ser4387=)
c.13158C>T (p.Ser4386=)
c.13116C>T (p.Ser4372=)
c.13113C>T (p.Ser4371=)
c.13110C>T (p.Ser4370=)
c.13062C>T (p.Ser4354=)
c.12759C>T (p.Ser4253=)
c.13293C>T (p.Ser4431=)
c.13290C>T (p.Ser4430=)
c.13272C>T (p.Ser4424=)
c.13248C>T (p.Ser4416=)
c.13245C>T (p.Ser4415=)
c.13242C>T (p.Ser4414=)
c.13194C>T (p.Ser4398=)
c.13182C>T (p.Ser4394=)
c.13044C>T (p.Ser4348=)
c.12891C>T (p.Ser4297=)
Xg.53534117G>CCA516418965HUWE1c.12696C>G (p.Ser4232=)
c.12912C>G (p.Ser4304=)
c.3379C>G
n.225C>G
c.12885C>G (p.Ser4295=)
c.13161C>G (p.Ser4387=)
c.13158C>G (p.Ser4386=)
c.13116C>G (p.Ser4372=)
c.13113C>G (p.Ser4371=)
c.13110C>G (p.Ser4370=)
c.13062C>G (p.Ser4354=)
c.12759C>G (p.Ser4253=)
c.13293C>G (p.Ser4431=)
c.13290C>G (p.Ser4430=)
c.13272C>G (p.Ser4424=)
c.13248C>G (p.Ser4416=)
c.13245C>G (p.Ser4415=)
c.13242C>G (p.Ser4414=)
c.13194C>G (p.Ser4398=)
c.13182C>G (p.Ser4394=)
c.13044C>G (p.Ser4348=)
c.12891C>G (p.Ser4297=)
 gnomAD v4
Xg.53534117G>TCA516418969HUWE1c.12696C>A (p.Ser4232=)
c.12912C>A (p.Ser4304=)
c.3379C>A
n.225C>A
c.12885C>A (p.Ser4295=)
c.13161C>A (p.Ser4387=)
c.13158C>A (p.Ser4386=)
c.13116C>A (p.Ser4372=)
c.13113C>A (p.Ser4371=)
c.13110C>A (p.Ser4370=)
c.13062C>A (p.Ser4354=)
c.12759C>A (p.Ser4253=)
c.13293C>A (p.Ser4431=)
c.13290C>A (p.Ser4430=)
c.13272C>A (p.Ser4424=)
c.13248C>A (p.Ser4416=)
c.13245C>A (p.Ser4415=)
c.13242C>A (p.Ser4414=)
c.13194C>A (p.Ser4398=)
c.13182C>A (p.Ser4394=)
c.13044C>A (p.Ser4348=)
c.12891C>A (p.Ser4297=)
 gnomAD v4
Xg.53534118G>ACA413144586HUWE1c.12695C>T (p.Ser4232Phe)
c.12911C>T (p.Ser4304Phe)
c.3378C>T
n.224C>T
c.12884C>T (p.Ser4295Phe)
c.13160C>T (p.Ser4387Phe)
c.13157C>T (p.Ser4386Phe)
c.13115C>T (p.Ser4372Phe)
c.13112C>T (p.Ser4371Phe)
c.13109C>T (p.Ser4370Phe)
c.13061C>T (p.Ser4354Phe)
c.12758C>T (p.Ser4253Phe)
c.13292C>T (p.Ser4431Phe)
c.13289C>T (p.Ser4430Phe)
c.13271C>T (p.Ser4424Phe)
c.13247C>T (p.Ser4416Phe)
c.13244C>T (p.Ser4415Phe)
c.13241C>T (p.Ser4414Phe)
c.13193C>T (p.Ser4398Phe)
c.13181C>T (p.Ser4394Phe)
c.13043C>T (p.Ser4348Phe)
c.12890C>T (p.Ser4297Phe)
Xg.53534118G>CCA413144588HUWE1c.12695C>G (p.Ser4232Cys)
c.12911C>G (p.Ser4304Cys)
c.3378C>G
n.224C>G
c.12884C>G (p.Ser4295Cys)
c.13160C>G (p.Ser4387Cys)
c.13157C>G (p.Ser4386Cys)
c.13115C>G (p.Ser4372Cys)
c.13112C>G (p.Ser4371Cys)
c.13109C>G (p.Ser4370Cys)
c.13061C>G (p.Ser4354Cys)
c.12758C>G (p.Ser4253Cys)
c.13292C>G (p.Ser4431Cys)
c.13289C>G (p.Ser4430Cys)
c.13271C>G (p.Ser4424Cys)
c.13247C>G (p.Ser4416Cys)
c.13244C>G (p.Ser4415Cys)
c.13241C>G (p.Ser4414Cys)
c.13193C>G (p.Ser4398Cys)
c.13181C>G (p.Ser4394Cys)
c.13043C>G (p.Ser4348Cys)
c.12890C>G (p.Ser4297Cys)
 gnomAD v4
Xg.53534118G>TCA413144590HUWE1c.12695C>A (p.Ser4232Tyr)
c.12911C>A (p.Ser4304Tyr)
c.3378C>A
n.224C>A
c.12884C>A (p.Ser4295Tyr)
c.13160C>A (p.Ser4387Tyr)
c.13157C>A (p.Ser4386Tyr)
c.13115C>A (p.Ser4372Tyr)
c.13112C>A (p.Ser4371Tyr)
c.13109C>A (p.Ser4370Tyr)
c.13061C>A (p.Ser4354Tyr)
c.12758C>A (p.Ser4253Tyr)
c.13292C>A (p.Ser4431Tyr)
c.13289C>A (p.Ser4430Tyr)
c.13271C>A (p.Ser4424Tyr)
c.13247C>A (p.Ser4416Tyr)
c.13244C>A (p.Ser4415Tyr)
c.13241C>A (p.Ser4414Tyr)
c.13193C>A (p.Ser4398Tyr)
c.13181C>A (p.Ser4394Tyr)
c.13043C>A (p.Ser4348Tyr)
c.12890C>A (p.Ser4297Tyr)
Xg.53534119A>CCA413144608HUWE1c.12694T>G (p.Ser4232Ala)
c.12910T>G (p.Ser4304Ala)
c.3377T>G
n.223T>G
c.12883T>G (p.Ser4295Ala)
c.13159T>G (p.Ser4387Ala)
c.13156T>G (p.Ser4386Ala)
c.13114T>G (p.Ser4372Ala)
c.13111T>G (p.Ser4371Ala)
c.13108T>G (p.Ser4370Ala)
c.13060T>G (p.Ser4354Ala)
c.12757T>G (p.Ser4253Ala)
c.13291T>G (p.Ser4431Ala)
c.13288T>G (p.Ser4430Ala)
c.13270T>G (p.Ser4424Ala)
c.13246T>G (p.Ser4416Ala)
c.13243T>G (p.Ser4415Ala)
c.13240T>G (p.Ser4414Ala)
c.13192T>G (p.Ser4398Ala)
c.13180T>G (p.Ser4394Ala)
c.13042T>G (p.Ser4348Ala)
c.12889T>G (p.Ser4297Ala)
Xg.53534119A>GCA413144614HUWE1c.12694T>C (p.Ser4232Pro)
c.12910T>C (p.Ser4304Pro)
c.3377T>C
n.223T>C
c.12883T>C (p.Ser4295Pro)
c.13159T>C (p.Ser4387Pro)
c.13156T>C (p.Ser4386Pro)
c.13114T>C (p.Ser4372Pro)
c.13111T>C (p.Ser4371Pro)
c.13108T>C (p.Ser4370Pro)
c.13060T>C (p.Ser4354Pro)
c.12757T>C (p.Ser4253Pro)
c.13291T>C (p.Ser4431Pro)
c.13288T>C (p.Ser4430Pro)
c.13270T>C (p.Ser4424Pro)
c.13246T>C (p.Ser4416Pro)
c.13243T>C (p.Ser4415Pro)
c.13240T>C (p.Ser4414Pro)
c.13192T>C (p.Ser4398Pro)
c.13180T>C (p.Ser4394Pro)
c.13042T>C (p.Ser4348Pro)
c.12889T>C (p.Ser4297Pro)
Xg.53534119A>TCA413144618HUWE1c.12694T>A (p.Ser4232Thr)
c.12910T>A (p.Ser4304Thr)
c.3377T>A
n.223T>A
c.12883T>A (p.Ser4295Thr)
c.13159T>A (p.Ser4387Thr)
c.13156T>A (p.Ser4386Thr)
c.13114T>A (p.Ser4372Thr)
c.13111T>A (p.Ser4371Thr)
c.13108T>A (p.Ser4370Thr)
c.13060T>A (p.Ser4354Thr)
c.12757T>A (p.Ser4253Thr)
c.13291T>A (p.Ser4431Thr)
c.13288T>A (p.Ser4430Thr)
c.13270T>A (p.Ser4424Thr)
c.13246T>A (p.Ser4416Thr)
c.13243T>A (p.Ser4415Thr)
c.13240T>A (p.Ser4414Thr)
c.13192T>A (p.Ser4398Thr)
c.13180T>A (p.Ser4394Thr)
c.13042T>A (p.Ser4348Thr)
c.12889T>A (p.Ser4297Thr)
Xg.53534120A>CCA516419007HUWE1c.12693T>G (p.Thr4231=)
c.12909T>G (p.Thr4303=)
c.3376T>G
n.222T>G
c.12882T>G (p.Thr4294=)
c.13158T>G (p.Thr4386=)
c.13155T>G (p.Thr4385=)
c.13113T>G (p.Thr4371=)
c.13110T>G (p.Thr4370=)
c.13107T>G (p.Thr4369=)
c.13059T>G (p.Thr4353=)
c.12756T>G (p.Thr4252=)
c.13290T>G (p.Thr4430=)
c.13287T>G (p.Thr4429=)
c.13269T>G (p.Thr4423=)
c.13245T>G (p.Thr4415=)
c.13242T>G (p.Thr4414=)
c.13239T>G (p.Thr4413=)
c.13191T>G (p.Thr4397=)
c.13179T>G (p.Thr4393=)
c.13041T>G (p.Thr4347=)
c.12888T>G (p.Thr4296=)
Xg.53534120A>GCA516419009HUWE1c.12693T>C (p.Thr4231=)
c.12909T>C (p.Thr4303=)
c.3376T>C
n.222T>C
c.12882T>C (p.Thr4294=)
c.13158T>C (p.Thr4386=)
c.13155T>C (p.Thr4385=)
c.13113T>C (p.Thr4371=)
c.13110T>C (p.Thr4370=)
c.13107T>C (p.Thr4369=)
c.13059T>C (p.Thr4353=)
c.12756T>C (p.Thr4252=)
c.13290T>C (p.Thr4430=)
c.13287T>C (p.Thr4429=)
c.13269T>C (p.Thr4423=)
c.13245T>C (p.Thr4415=)
c.13242T>C (p.Thr4414=)
c.13239T>C (p.Thr4413=)
c.13191T>C (p.Thr4397=)
c.13179T>C (p.Thr4393=)
c.13041T>C (p.Thr4347=)
c.12888T>C (p.Thr4296=)
Xg.53534120A>TCA516419011HUWE1c.12693T>A (p.Thr4231=)
c.12909T>A (p.Thr4303=)
c.3376T>A
n.222T>A
c.12882T>A (p.Thr4294=)
c.13158T>A (p.Thr4386=)
c.13155T>A (p.Thr4385=)
c.13113T>A (p.Thr4371=)
c.13110T>A (p.Thr4370=)
c.13107T>A (p.Thr4369=)
c.13059T>A (p.Thr4353=)
c.12756T>A (p.Thr4252=)
c.13290T>A (p.Thr4430=)
c.13287T>A (p.Thr4429=)
c.13269T>A (p.Thr4423=)
c.13245T>A (p.Thr4415=)
c.13242T>A (p.Thr4414=)
c.13239T>A (p.Thr4413=)
c.13191T>A (p.Thr4397=)
c.13179T>A (p.Thr4393=)
c.13041T>A (p.Thr4347=)
c.12888T>A (p.Thr4296=)
Xg.53534121G>ACA413144622HUWE1c.12692C>T (p.Thr4231Ile)
c.12908C>T (p.Thr4303Ile)
c.3375C>T
n.221C>T
c.12881C>T (p.Thr4294Ile)
c.13157C>T (p.Thr4386Ile)
c.13154C>T (p.Thr4385Ile)
c.13112C>T (p.Thr4371Ile)
c.13109C>T (p.Thr4370Ile)
c.13106C>T (p.Thr4369Ile)
c.13058C>T (p.Thr4353Ile)
c.12755C>T (p.Thr4252Ile)
c.13289C>T (p.Thr4430Ile)
c.13286C>T (p.Thr4429Ile)
c.13268C>T (p.Thr4423Ile)
c.13244C>T (p.Thr4415Ile)
c.13241C>T (p.Thr4414Ile)
c.13238C>T (p.Thr4413Ile)
c.13190C>T (p.Thr4397Ile)
c.13178C>T (p.Thr4393Ile)
c.13040C>T (p.Thr4347Ile)
c.12887C>T (p.Thr4296Ile)
 COSMIC COSMIC
Xg.53534121G>CCA413144627HUWE1c.12692C>G (p.Thr4231Ser)
c.12908C>G (p.Thr4303Ser)
c.3375C>G
n.221C>G
c.12881C>G (p.Thr4294Ser)
c.13157C>G (p.Thr4386Ser)
c.13154C>G (p.Thr4385Ser)
c.13112C>G (p.Thr4371Ser)
c.13109C>G (p.Thr4370Ser)
c.13106C>G (p.Thr4369Ser)
c.13058C>G (p.Thr4353Ser)
c.12755C>G (p.Thr4252Ser)
c.13289C>G (p.Thr4430Ser)
c.13286C>G (p.Thr4429Ser)
c.13268C>G (p.Thr4423Ser)
c.13244C>G (p.Thr4415Ser)
c.13241C>G (p.Thr4414Ser)
c.13238C>G (p.Thr4413Ser)
c.13190C>G (p.Thr4397Ser)
c.13178C>G (p.Thr4393Ser)
c.13040C>G (p.Thr4347Ser)
c.12887C>G (p.Thr4296Ser)
Xg.53534121G>TCA413144628HUWE1c.12692C>A (p.Thr4231Asn)
c.12908C>A (p.Thr4303Asn)
c.3375C>A
n.221C>A
c.12881C>A (p.Thr4294Asn)
c.13157C>A (p.Thr4386Asn)
c.13154C>A (p.Thr4385Asn)
c.13112C>A (p.Thr4371Asn)
c.13109C>A (p.Thr4370Asn)
c.13106C>A (p.Thr4369Asn)
c.13058C>A (p.Thr4353Asn)
c.12755C>A (p.Thr4252Asn)
c.13289C>A (p.Thr4430Asn)
c.13286C>A (p.Thr4429Asn)
c.13268C>A (p.Thr4423Asn)
c.13244C>A (p.Thr4415Asn)
c.13241C>A (p.Thr4414Asn)
c.13238C>A (p.Thr4413Asn)
c.13190C>A (p.Thr4397Asn)
c.13178C>A (p.Thr4393Asn)
c.13040C>A (p.Thr4347Asn)
c.12887C>A (p.Thr4296Asn)
 gnomAD v4
Xg.53534121dupCA2693810242HUWE1c.12692dup (p.Ser4232PhefsTer26)
c.12908dup (p.Ser4304PhefsTer26)
c.3375dup
n.221dup
c.12881dup (p.Ser4295PhefsTer26)
c.13157dup (p.Ser4387PhefsTer26)
c.13154dup (p.Ser4386PhefsTer26)
c.13112dup (p.Ser4372PhefsTer26)
c.13109dup (p.Ser4371PhefsTer26)
c.13106dup (p.Ser4370PhefsTer26)
c.13058dup (p.Ser4354PhefsTer26)
c.12755dup (p.Ser4253PhefsTer26)
c.13289dup (p.Ser4431PhefsTer26)
c.13286dup (p.Ser4430PhefsTer26)
c.13268dup (p.Ser4424PhefsTer26)
c.13244dup (p.Ser4416PhefsTer26)
c.13241dup (p.Ser4415PhefsTer26)
c.13238dup (p.Ser4414PhefsTer26)
c.13190dup (p.Ser4398PhefsTer26)
c.13178dup (p.Ser4394PhefsTer26)
c.13040dup (p.Ser4348PhefsTer26)
c.12887dup (p.Ser4297PhefsTer26)
 gnomAD v4
Xg.53534122T>ACA413144637HUWE1c.12691A>T (p.Thr4231Ser)
c.12907A>T (p.Thr4303Ser)
c.3374A>T
n.220A>T
c.12880A>T (p.Thr4294Ser)
c.13156A>T (p.Thr4386Ser)
c.13153A>T (p.Thr4385Ser)
c.13111A>T (p.Thr4371Ser)
c.13108A>T (p.Thr4370Ser)
c.13105A>T (p.Thr4369Ser)
c.13057A>T (p.Thr4353Ser)
c.12754A>T (p.Thr4252Ser)
c.13288A>T (p.Thr4430Ser)
c.13285A>T (p.Thr4429Ser)
c.13267A>T (p.Thr4423Ser)
c.13243A>T (p.Thr4415Ser)
c.13240A>T (p.Thr4414Ser)
c.13237A>T (p.Thr4413Ser)
c.13189A>T (p.Thr4397Ser)
c.13177A>T (p.Thr4393Ser)
c.13039A>T (p.Thr4347Ser)
c.12886A>T (p.Thr4296Ser)
Xg.53534122T>CCA413144653HUWE1c.12691A>G (p.Thr4231Ala)
c.12907A>G (p.Thr4303Ala)
c.3374A>G
n.220A>G
c.12880A>G (p.Thr4294Ala)
c.13156A>G (p.Thr4386Ala)
c.13153A>G (p.Thr4385Ala)
c.13111A>G (p.Thr4371Ala)
c.13108A>G (p.Thr4370Ala)
c.13105A>G (p.Thr4369Ala)
c.13057A>G (p.Thr4353Ala)
c.12754A>G (p.Thr4252Ala)
c.13288A>G (p.Thr4430Ala)
c.13285A>G (p.Thr4429Ala)
c.13267A>G (p.Thr4423Ala)
c.13243A>G (p.Thr4415Ala)
c.13240A>G (p.Thr4414Ala)
c.13237A>G (p.Thr4413Ala)
c.13189A>G (p.Thr4397Ala)
c.13177A>G (p.Thr4393Ala)
c.13039A>G (p.Thr4347Ala)
c.12886A>G (p.Thr4296Ala)
Xg.53534122T>GCA413144632HUWE1c.12691A>C (p.Thr4231Pro)
c.12907A>C (p.Thr4303Pro)
c.3374A>C
n.220A>C
c.12880A>C (p.Thr4294Pro)
c.13156A>C (p.Thr4386Pro)
c.13153A>C (p.Thr4385Pro)
c.13111A>C (p.Thr4371Pro)
c.13108A>C (p.Thr4370Pro)
c.13105A>C (p.Thr4369Pro)
c.13057A>C (p.Thr4353Pro)
c.12754A>C (p.Thr4252Pro)
c.13288A>C (p.Thr4430Pro)
c.13285A>C (p.Thr4429Pro)
c.13267A>C (p.Thr4423Pro)
c.13243A>C (p.Thr4415Pro)
c.13240A>C (p.Thr4414Pro)
c.13237A>C (p.Thr4413Pro)
c.13189A>C (p.Thr4397Pro)
c.13177A>C (p.Thr4393Pro)
c.13039A>C (p.Thr4347Pro)
c.12886A>C (p.Thr4296Pro)
Xg.53534123A=CA2429868912HUWE1c.12690T= (p.Gly4230=)
c.12906T= (p.Gly4302=)
c.3373T=
n.219T=
c.12879T= (p.Gly4293=)
c.13155T= (p.Gly4385=)
c.13152T= (p.Gly4384=)
c.13110T= (p.Gly4370=)
c.13107T= (p.Gly4369=)
c.13104T= (p.Gly4368=)
c.13056T= (p.Gly4352=)
c.12753T= (p.Gly4251=)
c.13287T= (p.Gly4429=)
c.13284T= (p.Gly4428=)
c.13266T= (p.Gly4422=)
c.13242T= (p.Gly4414=)
c.13239T= (p.Gly4413=)
c.13236T= (p.Gly4412=)
c.13188T= (p.Gly4396=)
c.13176T= (p.Gly4392=)
c.13038T= (p.Gly4346=)
c.12885T= (p.Gly4295=)
Xg.53534123A>CCA516419041HUWE1c.12690T>G (p.Gly4230=)
c.12906T>G (p.Gly4302=)
c.3373T>G
n.219T>G
c.12879T>G (p.Gly4293=)
c.13155T>G (p.Gly4385=)
c.13152T>G (p.Gly4384=)
c.13110T>G (p.Gly4370=)
c.13107T>G (p.Gly4369=)
c.13104T>G (p.Gly4368=)
c.13056T>G (p.Gly4352=)
c.12753T>G (p.Gly4251=)
c.13287T>G (p.Gly4429=)
c.13284T>G (p.Gly4428=)
c.13266T>G (p.Gly4422=)
c.13242T>G (p.Gly4414=)
c.13239T>G (p.Gly4413=)
c.13236T>G (p.Gly4412=)
c.13188T>G (p.Gly4396=)
c.13176T>G (p.Gly4392=)
c.13038T>G (p.Gly4346=)
c.12885T>G (p.Gly4295=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534123A>GCA516419042HUWE1c.12690T>C (p.Gly4230=)
c.12906T>C (p.Gly4302=)
c.3373T>C
n.219T>C
c.12879T>C (p.Gly4293=)
c.13155T>C (p.Gly4385=)
c.13152T>C (p.Gly4384=)
c.13110T>C (p.Gly4370=)
c.13107T>C (p.Gly4369=)
c.13104T>C (p.Gly4368=)
c.13056T>C (p.Gly4352=)
c.12753T>C (p.Gly4251=)
c.13287T>C (p.Gly4429=)
c.13284T>C (p.Gly4428=)
c.13266T>C (p.Gly4422=)
c.13242T>C (p.Gly4414=)
c.13239T>C (p.Gly4413=)
c.13236T>C (p.Gly4412=)
c.13188T>C (p.Gly4396=)
c.13176T>C (p.Gly4392=)
c.13038T>C (p.Gly4346=)
c.12885T>C (p.Gly4295=)
Xg.53534123A>TCA516419048HUWE1c.12690T>A (p.Gly4230=)
c.12906T>A (p.Gly4302=)
c.3373T>A
n.219T>A
c.12879T>A (p.Gly4293=)
c.13155T>A (p.Gly4385=)
c.13152T>A (p.Gly4384=)
c.13110T>A (p.Gly4370=)
c.13107T>A (p.Gly4369=)
c.13104T>A (p.Gly4368=)
c.13056T>A (p.Gly4352=)
c.12753T>A (p.Gly4251=)
c.13287T>A (p.Gly4429=)
c.13284T>A (p.Gly4428=)
c.13266T>A (p.Gly4422=)
c.13242T>A (p.Gly4414=)
c.13239T>A (p.Gly4413=)
c.13236T>A (p.Gly4412=)
c.13188T>A (p.Gly4396=)
c.13176T>A (p.Gly4392=)
c.13038T>A (p.Gly4346=)
c.12885T>A (p.Gly4295=)
 dbSNP gnomAD v2
Xg.53534124C>ACA413144656HUWE1c.12689G>T (p.Gly4230Val)
c.12905G>T (p.Gly4302Val)
c.3372G>T
n.218G>T
c.12878G>T (p.Gly4293Val)
c.13154G>T (p.Gly4385Val)
c.13151G>T (p.Gly4384Val)
c.13109G>T (p.Gly4370Val)
c.13106G>T (p.Gly4369Val)
c.13103G>T (p.Gly4368Val)
c.13055G>T (p.Gly4352Val)
c.12752G>T (p.Gly4251Val)
c.13286G>T (p.Gly4429Val)
c.13283G>T (p.Gly4428Val)
c.13265G>T (p.Gly4422Val)
c.13241G>T (p.Gly4414Val)
c.13238G>T (p.Gly4413Val)
c.13235G>T (p.Gly4412Val)
c.13187G>T (p.Gly4396Val)
c.13175G>T (p.Gly4392Val)
c.13037G>T (p.Gly4346Val)
c.12884G>T (p.Gly4295Val)
Xg.53534124C>GCA413144659HUWE1c.12689G>C (p.Gly4230Ala)
c.12905G>C (p.Gly4302Ala)
c.3372G>C
n.218G>C
c.12878G>C (p.Gly4293Ala)
c.13154G>C (p.Gly4385Ala)
c.13151G>C (p.Gly4384Ala)
c.13109G>C (p.Gly4370Ala)
c.13106G>C (p.Gly4369Ala)
c.13103G>C (p.Gly4368Ala)
c.13055G>C (p.Gly4352Ala)
c.12752G>C (p.Gly4251Ala)
c.13286G>C (p.Gly4429Ala)
c.13283G>C (p.Gly4428Ala)
c.13265G>C (p.Gly4422Ala)
c.13241G>C (p.Gly4414Ala)
c.13238G>C (p.Gly4413Ala)
c.13235G>C (p.Gly4412Ala)
c.13187G>C (p.Gly4396Ala)
c.13175G>C (p.Gly4392Ala)
c.13037G>C (p.Gly4346Ala)
c.12884G>C (p.Gly4295Ala)
Xg.53534124C>TCA413144661HUWE1c.12689G>A (p.Gly4230Asp)
c.12905G>A (p.Gly4302Asp)
c.3372G>A
n.218G>A
c.12878G>A (p.Gly4293Asp)
c.13154G>A (p.Gly4385Asp)
c.13151G>A (p.Gly4384Asp)
c.13109G>A (p.Gly4370Asp)
c.13106G>A (p.Gly4369Asp)
c.13103G>A (p.Gly4368Asp)
c.13055G>A (p.Gly4352Asp)
c.12752G>A (p.Gly4251Asp)
c.13286G>A (p.Gly4429Asp)
c.13283G>A (p.Gly4428Asp)
c.13265G>A (p.Gly4422Asp)
c.13241G>A (p.Gly4414Asp)
c.13238G>A (p.Gly4413Asp)
c.13235G>A (p.Gly4412Asp)
c.13187G>A (p.Gly4396Asp)
c.13175G>A (p.Gly4392Asp)
c.13037G>A (p.Gly4346Asp)
c.12884G>A (p.Gly4295Asp)
Xg.53534125C>ACA413144668HUWE1c.12688G>T (p.Gly4230Cys)
c.12904G>T (p.Gly4302Cys)
c.3371G>T
n.217G>T
c.12877G>T (p.Gly4293Cys)
c.13153G>T (p.Gly4385Cys)
c.13150G>T (p.Gly4384Cys)
c.13108G>T (p.Gly4370Cys)
c.13105G>T (p.Gly4369Cys)
c.13102G>T (p.Gly4368Cys)
c.13054G>T (p.Gly4352Cys)
c.12751G>T (p.Gly4251Cys)
c.13285G>T (p.Gly4429Cys)
c.13282G>T (p.Gly4428Cys)
c.13264G>T (p.Gly4422Cys)
c.13240G>T (p.Gly4414Cys)
c.13237G>T (p.Gly4413Cys)
c.13234G>T (p.Gly4412Cys)
c.13186G>T (p.Gly4396Cys)
c.13174G>T (p.Gly4392Cys)
c.13036G>T (p.Gly4346Cys)
c.12883G>T (p.Gly4295Cys)
Xg.53534125C=CA2429868913HUWE1c.12688G= (p.Gly4230=)
c.12904G= (p.Gly4302=)
c.3371G=
n.217G=
c.12877G= (p.Gly4293=)
c.13153G= (p.Gly4385=)
c.13150G= (p.Gly4384=)
c.13108G= (p.Gly4370=)
c.13105G= (p.Gly4369=)
c.13102G= (p.Gly4368=)
c.13054G= (p.Gly4352=)
c.12751G= (p.Gly4251=)
c.13285G= (p.Gly4429=)
c.13282G= (p.Gly4428=)
c.13264G= (p.Gly4422=)
c.13240G= (p.Gly4414=)
c.13237G= (p.Gly4413=)
c.13234G= (p.Gly4412=)
c.13186G= (p.Gly4396=)
c.13174G= (p.Gly4392=)
c.13036G= (p.Gly4346=)
c.12883G= (p.Gly4295=)
Xg.53534125C>GCA413144671HUWE1c.12688G>C (p.Gly4230Arg)
c.12904G>C (p.Gly4302Arg)
c.3371G>C
n.217G>C
c.12877G>C (p.Gly4293Arg)
c.13153G>C (p.Gly4385Arg)
c.13150G>C (p.Gly4384Arg)
c.13108G>C (p.Gly4370Arg)
c.13105G>C (p.Gly4369Arg)
c.13102G>C (p.Gly4368Arg)
c.13054G>C (p.Gly4352Arg)
c.12751G>C (p.Gly4251Arg)
c.13285G>C (p.Gly4429Arg)
c.13282G>C (p.Gly4428Arg)
c.13264G>C (p.Gly4422Arg)
c.13240G>C (p.Gly4414Arg)
c.13237G>C (p.Gly4413Arg)
c.13234G>C (p.Gly4412Arg)
c.13186G>C (p.Gly4396Arg)
c.13174G>C (p.Gly4392Arg)
c.13036G>C (p.Gly4346Arg)
c.12883G>C (p.Gly4295Arg)
Xg.53534125C>TCA413144680HUWE1c.12688G>A (p.Gly4230Ser)
c.12904G>A (p.Gly4302Ser)
c.3371G>A
n.217G>A
c.12877G>A (p.Gly4293Ser)
c.13153G>A (p.Gly4385Ser)
c.13150G>A (p.Gly4384Ser)
c.13108G>A (p.Gly4370Ser)
c.13105G>A (p.Gly4369Ser)
c.13102G>A (p.Gly4368Ser)
c.13054G>A (p.Gly4352Ser)
c.12751G>A (p.Gly4251Ser)
c.13285G>A (p.Gly4429Ser)
c.13282G>A (p.Gly4428Ser)
c.13264G>A (p.Gly4422Ser)
c.13240G>A (p.Gly4414Ser)
c.13237G>A (p.Gly4413Ser)
c.13234G>A (p.Gly4412Ser)
c.13186G>A (p.Gly4396Ser)
c.13174G>A (p.Gly4392Ser)
c.13036G>A (p.Gly4346Ser)
c.12883G>A (p.Gly4295Ser)
 ClinVar dbSNP gnomAD v4
Xg.53534126T>ACA876298752HUWE1c.12687A>T (p.Thr4229=)
c.12903A>T (p.Thr4301=)
c.3370A>T
n.216A>T
c.12876A>T (p.Thr4292=)
c.13152A>T (p.Thr4384=)
c.13149A>T (p.Thr4383=)
c.13107A>T (p.Thr4369=)
c.13104A>T (p.Thr4368=)
c.13101A>T (p.Thr4367=)
c.13053A>T (p.Thr4351=)
c.12750A>T (p.Thr4250=)
c.13284A>T (p.Thr4428=)
c.13281A>T (p.Thr4427=)
c.13263A>T (p.Thr4421=)
c.13239A>T (p.Thr4413=)
c.13236A>T (p.Thr4412=)
c.13233A>T (p.Thr4411=)
c.13185A>T (p.Thr4395=)
c.13173A>T (p.Thr4391=)
c.13035A>T (p.Thr4345=)
c.12882A>T (p.Thr4294=)
 dbSNP
Xg.53534126T>CCA329183362HUWE1c.12687A>G (p.Thr4229=)
c.12903A>G (p.Thr4301=)
c.3370A>G
n.216A>G
c.12876A>G (p.Thr4292=)
c.13152A>G (p.Thr4384=)
c.13149A>G (p.Thr4383=)
c.13107A>G (p.Thr4369=)
c.13104A>G (p.Thr4368=)
c.13101A>G (p.Thr4367=)
c.13053A>G (p.Thr4351=)
c.12750A>G (p.Thr4250=)
c.13284A>G (p.Thr4428=)
c.13281A>G (p.Thr4427=)
c.13263A>G (p.Thr4421=)
c.13239A>G (p.Thr4413=)
c.13236A>G (p.Thr4412=)
c.13233A>G (p.Thr4411=)
c.13185A>G (p.Thr4395=)
c.13173A>G (p.Thr4391=)
c.13035A>G (p.Thr4345=)
c.12882A>G (p.Thr4294=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53534126T>GCA2429868914HUWE1c.12687A>C (p.Thr4229=)
c.12903A>C (p.Thr4301=)
c.3370A>C
n.216A>C
c.12876A>C (p.Thr4292=)
c.13152A>C (p.Thr4384=)
c.13149A>C (p.Thr4383=)
c.13107A>C (p.Thr4369=)
c.13104A>C (p.Thr4368=)
c.13101A>C (p.Thr4367=)
c.13053A>C (p.Thr4351=)
c.12750A>C (p.Thr4250=)
c.13284A>C (p.Thr4428=)
c.13281A>C (p.Thr4427=)
c.13263A>C (p.Thr4421=)
c.13239A>C (p.Thr4413=)
c.13236A>C (p.Thr4412=)
c.13233A>C (p.Thr4411=)
c.13185A>C (p.Thr4395=)
c.13173A>C (p.Thr4391=)
c.13035A>C (p.Thr4345=)
c.12882A>C (p.Thr4294=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53534126T=CA153129HUWE1c.12687A= (p.Thr4229=)
c.12903A= (p.Thr4301=)
c.3370A=
n.216A=
c.12876A= (p.Thr4292=)
c.13152A= (p.Thr4384=)
c.13149A= (p.Thr4383=)
c.13107A= (p.Thr4369=)
c.13104A= (p.Thr4368=)
c.13101A= (p.Thr4367=)
c.13053A= (p.Thr4351=)
c.12750A= (p.Thr4250=)
c.13284A= (p.Thr4428=)
c.13281A= (p.Thr4427=)
c.13263A= (p.Thr4421=)
c.13239A= (p.Thr4413=)
c.13236A= (p.Thr4412=)
c.13233A= (p.Thr4411=)
c.13185A= (p.Thr4395=)
c.13173A= (p.Thr4391=)
c.13035A= (p.Thr4345=)
c.12882A= (p.Thr4294=)
Xg.53534127G>ACA413144690HUWE1c.12686C>T (p.Thr4229Ile)
c.12902C>T (p.Thr4301Ile)
c.3369C>T
n.215C>T
c.12875C>T (p.Thr4292Ile)
c.13151C>T (p.Thr4384Ile)
c.13148C>T (p.Thr4383Ile)
c.13106C>T (p.Thr4369Ile)
c.13103C>T (p.Thr4368Ile)
c.13100C>T (p.Thr4367Ile)
c.13052C>T (p.Thr4351Ile)
c.12749C>T (p.Thr4250Ile)
c.13283C>T (p.Thr4428Ile)
c.13280C>T (p.Thr4427Ile)
c.13262C>T (p.Thr4421Ile)
c.13238C>T (p.Thr4413Ile)
c.13235C>T (p.Thr4412Ile)
c.13232C>T (p.Thr4411Ile)
c.13184C>T (p.Thr4395Ile)
c.13172C>T (p.Thr4391Ile)
c.13034C>T (p.Thr4345Ile)
c.12881C>T (p.Thr4294Ile)
Xg.53534127G>CCA413144686HUWE1c.12686C>G (p.Thr4229Arg)
c.12902C>G (p.Thr4301Arg)
c.3369C>G
n.215C>G
c.12875C>G (p.Thr4292Arg)
c.13151C>G (p.Thr4384Arg)
c.13148C>G (p.Thr4383Arg)
c.13106C>G (p.Thr4369Arg)
c.13103C>G (p.Thr4368Arg)
c.13100C>G (p.Thr4367Arg)
c.13052C>G (p.Thr4351Arg)
c.12749C>G (p.Thr4250Arg)
c.13283C>G (p.Thr4428Arg)
c.13280C>G (p.Thr4427Arg)
c.13262C>G (p.Thr4421Arg)
c.13238C>G (p.Thr4413Arg)
c.13235C>G (p.Thr4412Arg)
c.13232C>G (p.Thr4411Arg)
c.13184C>G (p.Thr4395Arg)
c.13172C>G (p.Thr4391Arg)
c.13034C>G (p.Thr4345Arg)
c.12881C>G (p.Thr4294Arg)
 gnomAD v4
Xg.53534127G>TCA413144688HUWE1c.12686C>A (p.Thr4229Lys)
c.12902C>A (p.Thr4301Lys)
c.3369C>A
n.215C>A
c.12875C>A (p.Thr4292Lys)
c.13151C>A (p.Thr4384Lys)
c.13148C>A (p.Thr4383Lys)
c.13106C>A (p.Thr4369Lys)
c.13103C>A (p.Thr4368Lys)
c.13100C>A (p.Thr4367Lys)
c.13052C>A (p.Thr4351Lys)
c.12749C>A (p.Thr4250Lys)
c.13283C>A (p.Thr4428Lys)
c.13280C>A (p.Thr4427Lys)
c.13262C>A (p.Thr4421Lys)
c.13238C>A (p.Thr4413Lys)
c.13235C>A (p.Thr4412Lys)
c.13232C>A (p.Thr4411Lys)
c.13184C>A (p.Thr4395Lys)
c.13172C>A (p.Thr4391Lys)
c.13034C>A (p.Thr4345Lys)
c.12881C>A (p.Thr4294Lys)
Xg.53534127_53534128insACAAACTGGAGGAACTTGGCACGGGTACTTCCAAGGTACCCGCA2693810243HUWE1c.12686_12687insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4229_Gly4230insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.12902_12903insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4301_Gly4302insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.3369_3370insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC
n.215_216insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC
c.12875_12876insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4292_Gly4293insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13151_13152insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4384_Gly4385insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13148_13149insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4383_Gly4384insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13106_13107insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4369_Gly4370insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13103_13104insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4368_Gly4369insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13100_13101insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4367_Gly4368insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13052_13053insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4351_Gly4352insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.12749_12750insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4250_Gly4251insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13283_13284insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4428_Gly4429insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13280_13281insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4427_Gly4428insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13262_13263insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4421_Gly4422insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13238_13239insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4413_Gly4414insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13235_13236insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4412_Gly4413insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13232_13233insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4411_Gly4412insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13184_13185insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4395_Gly4396insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13172_13173insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4391_Gly4392insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.13034_13035insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4345_Gly4346insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
c.12881_12882insGGGTACCTTGGAAGTACCCGTGCCAAGTTCCTCCAGTTTGTC (p.Thr4294_Gly4295insGlyThrLeuGluValProValProSerSerSerSerLeuSer)
 gnomAD v4
Xg.53534128T>ACA413144694HUWE1c.12685A>T (p.Thr4229Ser)
c.12901A>T (p.Thr4301Ser)
c.3368A>T
n.214A>T
c.12874A>T (p.Thr4292Ser)
c.13150A>T (p.Thr4384Ser)
c.13147A>T (p.Thr4383Ser)
c.13105A>T (p.Thr4369Ser)
c.13102A>T (p.Thr4368Ser)
c.13099A>T (p.Thr4367Ser)
c.13051A>T (p.Thr4351Ser)
c.12748A>T (p.Thr4250Ser)
c.13282A>T (p.Thr4428Ser)
c.13279A>T (p.Thr4427Ser)
c.13261A>T (p.Thr4421Ser)
c.13237A>T (p.Thr4413Ser)
c.13234A>T (p.Thr4412Ser)
c.13231A>T (p.Thr4411Ser)
c.13183A>T (p.Thr4395Ser)
c.13171A>T (p.Thr4391Ser)
c.13033A>T (p.Thr4345Ser)
c.12880A>T (p.Thr4294Ser)
Xg.53534128T>CCA413144699HUWE1c.12685A>G (p.Thr4229Ala)
c.12901A>G (p.Thr4301Ala)
c.3368A>G
n.214A>G
c.12874A>G (p.Thr4292Ala)
c.13150A>G (p.Thr4384Ala)
c.13147A>G (p.Thr4383Ala)
c.13105A>G (p.Thr4369Ala)
c.13102A>G (p.Thr4368Ala)
c.13099A>G (p.Thr4367Ala)
c.13051A>G (p.Thr4351Ala)
c.12748A>G (p.Thr4250Ala)
c.13282A>G (p.Thr4428Ala)
c.13279A>G (p.Thr4427Ala)
c.13261A>G (p.Thr4421Ala)
c.13237A>G (p.Thr4413Ala)
c.13234A>G (p.Thr4412Ala)
c.13231A>G (p.Thr4411Ala)
c.13183A>G (p.Thr4395Ala)
c.13171A>G (p.Thr4391Ala)
c.13033A>G (p.Thr4345Ala)
c.12880A>G (p.Thr4294Ala)
Xg.53534128T>GCA413144704HUWE1c.12685A>C (p.Thr4229Pro)
c.12901A>C (p.Thr4301Pro)
c.3368A>C
n.214A>C
c.12874A>C (p.Thr4292Pro)
c.13150A>C (p.Thr4384Pro)
c.13147A>C (p.Thr4383Pro)
c.13105A>C (p.Thr4369Pro)
c.13102A>C (p.Thr4368Pro)
c.13099A>C (p.Thr4367Pro)
c.13051A>C (p.Thr4351Pro)
c.12748A>C (p.Thr4250Pro)
c.13282A>C (p.Thr4428Pro)
c.13279A>C (p.Thr4427Pro)
c.13261A>C (p.Thr4421Pro)
c.13237A>C (p.Thr4413Pro)
c.13234A>C (p.Thr4412Pro)
c.13231A>C (p.Thr4411Pro)
c.13183A>C (p.Thr4395Pro)
c.13171A>C (p.Thr4391Pro)
c.13033A>C (p.Thr4345Pro)
c.12880A>C (p.Thr4294Pro)
Xg.53534129G>ACA516419076HUWE1c.12684C>T (p.Val4228=)
c.12900C>T (p.Val4300=)
c.3367C>T
n.213C>T
c.12873C>T (p.Val4291=)
c.13149C>T (p.Val4383=)
c.13146C>T (p.Val4382=)
c.13104C>T (p.Val4368=)
c.13101C>T (p.Val4367=)
c.13098C>T (p.Val4366=)
c.13050C>T (p.Val4350=)
c.12747C>T (p.Val4249=)
c.13281C>T (p.Val4427=)
c.13278C>T (p.Val4426=)
c.13260C>T (p.Val4420=)
c.13236C>T (p.Val4412=)
c.13233C>T (p.Val4411=)
c.13230C>T (p.Val4410=)
c.13182C>T (p.Val4394=)
c.13170C>T (p.Val4390=)
c.13032C>T (p.Val4344=)
c.12879C>T (p.Val4293=)
 gnomAD v4
Xg.53534129G>CCA516419078HUWE1c.12684C>G (p.Val4228=)
c.12900C>G (p.Val4300=)
c.3367C>G
n.213C>G
c.12873C>G (p.Val4291=)
c.13149C>G (p.Val4383=)
c.13146C>G (p.Val4382=)
c.13104C>G (p.Val4368=)
c.13101C>G (p.Val4367=)
c.13098C>G (p.Val4366=)
c.13050C>G (p.Val4350=)
c.12747C>G (p.Val4249=)
c.13281C>G (p.Val4427=)
c.13278C>G (p.Val4426=)
c.13260C>G (p.Val4420=)
c.13236C>G (p.Val4412=)
c.13233C>G (p.Val4411=)
c.13230C>G (p.Val4410=)
c.13182C>G (p.Val4394=)
c.13170C>G (p.Val4390=)
c.13032C>G (p.Val4344=)
c.12879C>G (p.Val4293=)
 gnomAD v4
Xg.53534129G>TCA516419079HUWE1c.12684C>A (p.Val4228=)
c.12900C>A (p.Val4300=)
c.3367C>A
n.213C>A
c.12873C>A (p.Val4291=)
c.13149C>A (p.Val4383=)
c.13146C>A (p.Val4382=)
c.13104C>A (p.Val4368=)
c.13101C>A (p.Val4367=)
c.13098C>A (p.Val4366=)
c.13050C>A (p.Val4350=)
c.12747C>A (p.Val4249=)
c.13281C>A (p.Val4427=)
c.13278C>A (p.Val4426=)
c.13260C>A (p.Val4420=)
c.13236C>A (p.Val4412=)
c.13233C>A (p.Val4411=)
c.13230C>A (p.Val4410=)
c.13182C>A (p.Val4394=)
c.13170C>A (p.Val4390=)
c.13032C>A (p.Val4344=)
c.12879C>A (p.Val4293=)
Xg.53534130A>CCA413144719HUWE1c.12683T>G (p.Val4228Gly)
c.12899T>G (p.Val4300Gly)
c.3366T>G
n.212T>G
c.12872T>G (p.Val4291Gly)
c.13148T>G (p.Val4383Gly)
c.13145T>G (p.Val4382Gly)
c.13103T>G (p.Val4368Gly)
c.13100T>G (p.Val4367Gly)
c.13097T>G (p.Val4366Gly)
c.13049T>G (p.Val4350Gly)
c.12746T>G (p.Val4249Gly)
c.13280T>G (p.Val4427Gly)
c.13277T>G (p.Val4426Gly)
c.13259T>G (p.Val4420Gly)
c.13235T>G (p.Val4412Gly)
c.13232T>G (p.Val4411Gly)
c.13229T>G (p.Val4410Gly)
c.13181T>G (p.Val4394Gly)
c.13169T>G (p.Val4390Gly)
c.13031T>G (p.Val4344Gly)
c.12878T>G (p.Val4293Gly)
 gnomAD v4
Xg.53534130A>GCA413144721HUWE1c.12683T>C (p.Val4228Ala)
c.12899T>C (p.Val4300Ala)
c.3366T>C
n.212T>C
c.12872T>C (p.Val4291Ala)
c.13148T>C (p.Val4383Ala)
c.13145T>C (p.Val4382Ala)
c.13103T>C (p.Val4368Ala)
c.13100T>C (p.Val4367Ala)
c.13097T>C (p.Val4366Ala)
c.13049T>C (p.Val4350Ala)
c.12746T>C (p.Val4249Ala)
c.13280T>C (p.Val4427Ala)
c.13277T>C (p.Val4426Ala)
c.13259T>C (p.Val4420Ala)
c.13235T>C (p.Val4412Ala)
c.13232T>C (p.Val4411Ala)
c.13229T>C (p.Val4410Ala)
c.13181T>C (p.Val4394Ala)
c.13169T>C (p.Val4390Ala)
c.13031T>C (p.Val4344Ala)
c.12878T>C (p.Val4293Ala)
Xg.53534130A>TCA413144729HUWE1c.12683T>A (p.Val4228Asp)
c.12899T>A (p.Val4300Asp)
c.3366T>A
n.212T>A
c.12872T>A (p.Val4291Asp)
c.13148T>A (p.Val4383Asp)
c.13145T>A (p.Val4382Asp)
c.13103T>A (p.Val4368Asp)
c.13100T>A (p.Val4367Asp)
c.13097T>A (p.Val4366Asp)
c.13049T>A (p.Val4350Asp)
c.12746T>A (p.Val4249Asp)
c.13280T>A (p.Val4427Asp)
c.13277T>A (p.Val4426Asp)
c.13259T>A (p.Val4420Asp)
c.13235T>A (p.Val4412Asp)
c.13232T>A (p.Val4411Asp)
c.13229T>A (p.Val4410Asp)
c.13181T>A (p.Val4394Asp)
c.13169T>A (p.Val4390Asp)
c.13031T>A (p.Val4344Asp)
c.12878T>A (p.Val4293Asp)
Xg.53534131C>ACA413144744HUWE1c.12682G>T (p.Val4228Phe)
c.12898G>T (p.Val4300Phe)
c.3365G>T
n.211G>T
c.12871G>T (p.Val4291Phe)
c.13147G>T (p.Val4383Phe)
c.13144G>T (p.Val4382Phe)
c.13102G>T (p.Val4368Phe)
c.13099G>T (p.Val4367Phe)
c.13096G>T (p.Val4366Phe)
c.13048G>T (p.Val4350Phe)
c.12745G>T (p.Val4249Phe)
c.13279G>T (p.Val4427Phe)
c.13276G>T (p.Val4426Phe)
c.13258G>T (p.Val4420Phe)
c.13234G>T (p.Val4412Phe)
c.13231G>T (p.Val4411Phe)
c.13228G>T (p.Val4410Phe)
c.13180G>T (p.Val4394Phe)
c.13168G>T (p.Val4390Phe)
c.13030G>T (p.Val4344Phe)
c.12877G>T (p.Val4293Phe)
Xg.53534131C>GCA413144740HUWE1c.12682G>C (p.Val4228Leu)
c.12898G>C (p.Val4300Leu)
c.3365G>C
n.211G>C
c.12871G>C (p.Val4291Leu)
c.13147G>C (p.Val4383Leu)
c.13144G>C (p.Val4382Leu)
c.13102G>C (p.Val4368Leu)
c.13099G>C (p.Val4367Leu)
c.13096G>C (p.Val4366Leu)
c.13048G>C (p.Val4350Leu)
c.12745G>C (p.Val4249Leu)
c.13279G>C (p.Val4427Leu)
c.13276G>C (p.Val4426Leu)
c.13258G>C (p.Val4420Leu)
c.13234G>C (p.Val4412Leu)
c.13231G>C (p.Val4411Leu)
c.13228G>C (p.Val4410Leu)
c.13180G>C (p.Val4394Leu)
c.13168G>C (p.Val4390Leu)
c.13030G>C (p.Val4344Leu)
c.12877G>C (p.Val4293Leu)
Xg.53534131C>TCA413144737HUWE1c.12682G>A (p.Val4228Ile)
c.12898G>A (p.Val4300Ile)
c.3365G>A
n.211G>A
c.12871G>A (p.Val4291Ile)
c.13147G>A (p.Val4383Ile)
c.13144G>A (p.Val4382Ile)
c.13102G>A (p.Val4368Ile)
c.13099G>A (p.Val4367Ile)
c.13096G>A (p.Val4366Ile)
c.13048G>A (p.Val4350Ile)
c.12745G>A (p.Val4249Ile)
c.13279G>A (p.Val4427Ile)
c.13276G>A (p.Val4426Ile)
c.13258G>A (p.Val4420Ile)
c.13234G>A (p.Val4412Ile)
c.13231G>A (p.Val4411Ile)
c.13228G>A (p.Val4410Ile)
c.13180G>A (p.Val4394Ile)
c.13168G>A (p.Val4390Ile)
c.13030G>A (p.Val4344Ile)
c.12877G>A (p.Val4293Ile)
Xg.53534132A>CCA413144755HUWE1c.12681T>G (p.Phe4227Leu)
c.12897T>G (p.Phe4299Leu)
c.3364T>G
n.210T>G
c.12870T>G (p.Phe4290Leu)
c.13146T>G (p.Phe4382Leu)
c.13143T>G (p.Phe4381Leu)
c.13101T>G (p.Phe4367Leu)
c.13098T>G (p.Phe4366Leu)
c.13095T>G (p.Phe4365Leu)
c.13047T>G (p.Phe4349Leu)
c.12744T>G (p.Phe4248Leu)
c.13278T>G (p.Phe4426Leu)
c.13275T>G (p.Phe4425Leu)
c.13257T>G (p.Phe4419Leu)
c.13233T>G (p.Phe4411Leu)
c.13230T>G (p.Phe4410Leu)
c.13227T>G (p.Phe4409Leu)
c.13179T>G (p.Phe4393Leu)
c.13167T>G (p.Phe4389Leu)
c.13029T>G (p.Phe4343Leu)
c.12876T>G (p.Phe4292Leu)
Xg.53534132A>GCA516419093HUWE1c.12681T>C (p.Phe4227=)
c.12897T>C (p.Phe4299=)
c.3364T>C
n.210T>C
c.12870T>C (p.Phe4290=)
c.13146T>C (p.Phe4382=)
c.13143T>C (p.Phe4381=)
c.13101T>C (p.Phe4367=)
c.13098T>C (p.Phe4366=)
c.13095T>C (p.Phe4365=)
c.13047T>C (p.Phe4349=)
c.12744T>C (p.Phe4248=)
c.13278T>C (p.Phe4426=)
c.13275T>C (p.Phe4425=)
c.13257T>C (p.Phe4419=)
c.13233T>C (p.Phe4411=)
c.13230T>C (p.Phe4410=)
c.13227T>C (p.Phe4409=)
c.13179T>C (p.Phe4393=)
c.13167T>C (p.Phe4389=)
c.13029T>C (p.Phe4343=)
c.12876T>C (p.Phe4292=)
Xg.53534132A>TCA413144754HUWE1c.12681T>A (p.Phe4227Leu)
c.12897T>A (p.Phe4299Leu)
c.3364T>A
n.210T>A
c.12870T>A (p.Phe4290Leu)
c.13146T>A (p.Phe4382Leu)
c.13143T>A (p.Phe4381Leu)
c.13101T>A (p.Phe4367Leu)
c.13098T>A (p.Phe4366Leu)
c.13095T>A (p.Phe4365Leu)
c.13047T>A (p.Phe4349Leu)
c.12744T>A (p.Phe4248Leu)
c.13278T>A (p.Phe4426Leu)
c.13275T>A (p.Phe4425Leu)
c.13257T>A (p.Phe4419Leu)
c.13233T>A (p.Phe4411Leu)
c.13230T>A (p.Phe4410Leu)
c.13227T>A (p.Phe4409Leu)
c.13179T>A (p.Phe4393Leu)
c.13167T>A (p.Phe4389Leu)
c.13029T>A (p.Phe4343Leu)
c.12876T>A (p.Phe4292Leu)
Xg.53534133A>CCA413144759HUWE1c.12680T>G (p.Phe4227Cys)
c.12896T>G (p.Phe4299Cys)
c.3363T>G
n.209T>G
c.12869T>G (p.Phe4290Cys)
c.13145T>G (p.Phe4382Cys)
c.13142T>G (p.Phe4381Cys)
c.13100T>G (p.Phe4367Cys)
c.13097T>G (p.Phe4366Cys)
c.13094T>G (p.Phe4365Cys)
c.13046T>G (p.Phe4349Cys)
c.12743T>G (p.Phe4248Cys)
c.13277T>G (p.Phe4426Cys)
c.13274T>G (p.Phe4425Cys)
c.13256T>G (p.Phe4419Cys)
c.13232T>G (p.Phe4411Cys)
c.13229T>G (p.Phe4410Cys)
c.13226T>G (p.Phe4409Cys)
c.13178T>G (p.Phe4393Cys)
c.13166T>G (p.Phe4389Cys)
c.13028T>G (p.Phe4343Cys)
c.12875T>G (p.Phe4292Cys)
Xg.53534133A>GCA413144757HUWE1c.12680T>C (p.Phe4227Ser)
c.12896T>C (p.Phe4299Ser)
c.3363T>C
n.209T>C
c.12869T>C (p.Phe4290Ser)
c.13145T>C (p.Phe4382Ser)
c.13142T>C (p.Phe4381Ser)
c.13100T>C (p.Phe4367Ser)
c.13097T>C (p.Phe4366Ser)
c.13094T>C (p.Phe4365Ser)
c.13046T>C (p.Phe4349Ser)
c.12743T>C (p.Phe4248Ser)
c.13277T>C (p.Phe4426Ser)
c.13274T>C (p.Phe4425Ser)
c.13256T>C (p.Phe4419Ser)
c.13232T>C (p.Phe4411Ser)
c.13229T>C (p.Phe4410Ser)
c.13226T>C (p.Phe4409Ser)
c.13178T>C (p.Phe4393Ser)
c.13166T>C (p.Phe4389Ser)
c.13028T>C (p.Phe4343Ser)
c.12875T>C (p.Phe4292Ser)
Xg.53534133A>TCA413144762HUWE1c.12680T>A (p.Phe4227Tyr)
c.12896T>A (p.Phe4299Tyr)
c.3363T>A
n.209T>A
c.12869T>A (p.Phe4290Tyr)
c.13145T>A (p.Phe4382Tyr)
c.13142T>A (p.Phe4381Tyr)
c.13100T>A (p.Phe4367Tyr)
c.13097T>A (p.Phe4366Tyr)
c.13094T>A (p.Phe4365Tyr)
c.13046T>A (p.Phe4349Tyr)
c.12743T>A (p.Phe4248Tyr)
c.13277T>A (p.Phe4426Tyr)
c.13274T>A (p.Phe4425Tyr)
c.13256T>A (p.Phe4419Tyr)
c.13232T>A (p.Phe4411Tyr)
c.13229T>A (p.Phe4410Tyr)
c.13226T>A (p.Phe4409Tyr)
c.13178T>A (p.Phe4393Tyr)
c.13166T>A (p.Phe4389Tyr)
c.13028T>A (p.Phe4343Tyr)
c.12875T>A (p.Phe4292Tyr)
Xg.53534133_53534134insGTTCA2693810244HUWE1c.12679_12680insAAC (p.Phe4227Ter)
c.12895_12896insAAC (p.Phe4299Ter)
c.3362_3363insAAC
n.208_209insAAC
c.12868_12869insAAC (p.Phe4290Ter)
c.13144_13145insAAC (p.Phe4382Ter)
c.13141_13142insAAC (p.Phe4381Ter)
c.13099_13100insAAC (p.Phe4367Ter)
c.13096_13097insAAC (p.Phe4366Ter)
c.13093_13094insAAC (p.Phe4365Ter)
c.13045_13046insAAC (p.Phe4349Ter)
c.12742_12743insAAC (p.Phe4248Ter)
c.13276_13277insAAC (p.Phe4426Ter)
c.13273_13274insAAC (p.Phe4425Ter)
c.13255_13256insAAC (p.Phe4419Ter)
c.13231_13232insAAC (p.Phe4411Ter)
c.13228_13229insAAC (p.Phe4410Ter)
c.13225_13226insAAC (p.Phe4409Ter)
c.13177_13178insAAC (p.Phe4393Ter)
c.13165_13166insAAC (p.Phe4389Ter)
c.13027_13028insAAC (p.Phe4343Ter)
c.12874_12875insAAC (p.Phe4292Ter)
 gnomAD v4
Xg.53534134A=CA2429868915HUWE1c.12679T= (p.Phe4227=)
c.12895T= (p.Phe4299=)
c.3362T=
n.208T=
c.12868T= (p.Phe4290=)
c.13144T= (p.Phe4382=)
c.13141T= (p.Phe4381=)
c.13099T= (p.Phe4367=)
c.13096T= (p.Phe4366=)
c.13093T= (p.Phe4365=)
c.13045T= (p.Phe4349=)
c.12742T= (p.Phe4248=)
c.13276T= (p.Phe4426=)
c.13273T= (p.Phe4425=)
c.13255T= (p.Phe4419=)
c.13231T= (p.Phe4411=)
c.13228T= (p.Phe4410=)
c.13225T= (p.Phe4409=)
c.13177T= (p.Phe4393=)
c.13165T= (p.Phe4389=)
c.13027T= (p.Phe4343=)
c.12874T= (p.Phe4292=)
Xg.53534134A>CCA413144766HUWE1c.12679T>G (p.Phe4227Val)
c.12895T>G (p.Phe4299Val)
c.3362T>G
n.208T>G
c.12868T>G (p.Phe4290Val)
c.13144T>G (p.Phe4382Val)
c.13141T>G (p.Phe4381Val)
c.13099T>G (p.Phe4367Val)
c.13096T>G (p.Phe4366Val)
c.13093T>G (p.Phe4365Val)
c.13045T>G (p.Phe4349Val)
c.12742T>G (p.Phe4248Val)
c.13276T>G (p.Phe4426Val)
c.13273T>G (p.Phe4425Val)
c.13255T>G (p.Phe4419Val)
c.13231T>G (p.Phe4411Val)
c.13228T>G (p.Phe4410Val)
c.13225T>G (p.Phe4409Val)
c.13177T>G (p.Phe4393Val)
c.13165T>G (p.Phe4389Val)
c.13027T>G (p.Phe4343Val)
c.12874T>G (p.Phe4292Val)
 gnomAD v4
Xg.53534134A>GCA413144769HUWE1c.12679T>C (p.Phe4227Leu)
c.12895T>C (p.Phe4299Leu)
c.3362T>C
n.208T>C
c.12868T>C (p.Phe4290Leu)
c.13144T>C (p.Phe4382Leu)
c.13141T>C (p.Phe4381Leu)
c.13099T>C (p.Phe4367Leu)
c.13096T>C (p.Phe4366Leu)
c.13093T>C (p.Phe4365Leu)
c.13045T>C (p.Phe4349Leu)
c.12742T>C (p.Phe4248Leu)
c.13276T>C (p.Phe4426Leu)
c.13273T>C (p.Phe4425Leu)
c.13255T>C (p.Phe4419Leu)
c.13231T>C (p.Phe4411Leu)
c.13228T>C (p.Phe4410Leu)
c.13225T>C (p.Phe4409Leu)
c.13177T>C (p.Phe4393Leu)
c.13165T>C (p.Phe4389Leu)
c.13027T>C (p.Phe4343Leu)
c.12874T>C (p.Phe4292Leu)
 ClinVar dbSNP
Xg.53534134A>TCA413144780HUWE1c.12679T>A (p.Phe4227Ile)
c.12895T>A (p.Phe4299Ile)
c.3362T>A
n.208T>A
c.12868T>A (p.Phe4290Ile)
c.13144T>A (p.Phe4382Ile)
c.13141T>A (p.Phe4381Ile)
c.13099T>A (p.Phe4367Ile)
c.13096T>A (p.Phe4366Ile)
c.13093T>A (p.Phe4365Ile)
c.13045T>A (p.Phe4349Ile)
c.12742T>A (p.Phe4248Ile)
c.13276T>A (p.Phe4426Ile)
c.13273T>A (p.Phe4425Ile)
c.13255T>A (p.Phe4419Ile)
c.13231T>A (p.Phe4411Ile)
c.13228T>A (p.Phe4410Ile)
c.13225T>A (p.Phe4409Ile)
c.13177T>A (p.Phe4393Ile)
c.13165T>A (p.Phe4389Ile)
c.13027T>A (p.Phe4343Ile)
c.12874T>A (p.Phe4292Ile)
Xg.53534135C>ACA413144787HUWE1c.12678G>T (p.Gln4226His)
c.12894G>T (p.Gln4298His)
c.3361G>T
n.207G>T
c.12867G>T (p.Gln4289His)
c.13143G>T (p.Gln4381His)
c.13140G>T (p.Gln4380His)
c.13098G>T (p.Gln4366His)
c.13095G>T (p.Gln4365His)
c.13092G>T (p.Gln4364His)
c.13044G>T (p.Gln4348His)
c.12741G>T (p.Gln4247His)
c.13275G>T (p.Gln4425His)
c.13272G>T (p.Gln4424His)
c.13254G>T (p.Gln4418His)
c.13230G>T (p.Gln4410His)
c.13227G>T (p.Gln4409His)
c.13224G>T (p.Gln4408His)
c.13176G>T (p.Gln4392His)
c.13164G>T (p.Gln4388His)
c.13026G>T (p.Gln4342His)
c.12873G>T (p.Gln4291His)
 COSMIC COSMIC
Xg.53534135C>GCA413144790HUWE1c.12678G>C (p.Gln4226His)
c.12894G>C (p.Gln4298His)
c.3361G>C
n.207G>C
c.12867G>C (p.Gln4289His)
c.13143G>C (p.Gln4381His)
c.13140G>C (p.Gln4380His)
c.13098G>C (p.Gln4366His)
c.13095G>C (p.Gln4365His)
c.13092G>C (p.Gln4364His)
c.13044G>C (p.Gln4348His)
c.12741G>C (p.Gln4247His)
c.13275G>C (p.Gln4425His)
c.13272G>C (p.Gln4424His)
c.13254G>C (p.Gln4418His)
c.13230G>C (p.Gln4410His)
c.13227G>C (p.Gln4409His)
c.13224G>C (p.Gln4408His)
c.13176G>C (p.Gln4392His)
c.13164G>C (p.Gln4388His)
c.13026G>C (p.Gln4342His)
c.12873G>C (p.Gln4291His)
Xg.53534135C>TCA516419119HUWE1c.12678G>A (p.Gln4226=)
c.12894G>A (p.Gln4298=)
c.3361G>A
n.207G>A
c.12867G>A (p.Gln4289=)
c.13143G>A (p.Gln4381=)
c.13140G>A (p.Gln4380=)
c.13098G>A (p.Gln4366=)
c.13095G>A (p.Gln4365=)
c.13092G>A (p.Gln4364=)
c.13044G>A (p.Gln4348=)
c.12741G>A (p.Gln4247=)
c.13275G>A (p.Gln4425=)
c.13272G>A (p.Gln4424=)
c.13254G>A (p.Gln4418=)
c.13230G>A (p.Gln4410=)
c.13227G>A (p.Gln4409=)
c.13224G>A (p.Gln4408=)
c.13176G>A (p.Gln4392=)
c.13164G>A (p.Gln4388=)
c.13026G>A (p.Gln4342=)
c.12873G>A (p.Gln4291=)
 gnomAD v4
Xg.53534136T>ACA413144801HUWE1c.12677A>T (p.Gln4226Leu)
c.12893A>T (p.Gln4298Leu)
c.3360A>T
n.206A>T
c.12866A>T (p.Gln4289Leu)
c.13142A>T (p.Gln4381Leu)
c.13139A>T (p.Gln4380Leu)
c.13097A>T (p.Gln4366Leu)
c.13094A>T (p.Gln4365Leu)
c.13091A>T (p.Gln4364Leu)
c.13043A>T (p.Gln4348Leu)
c.12740A>T (p.Gln4247Leu)
c.13274A>T (p.Gln4425Leu)
c.13271A>T (p.Gln4424Leu)
c.13253A>T (p.Gln4418Leu)
c.13229A>T (p.Gln4410Leu)
c.13226A>T (p.Gln4409Leu)
c.13223A>T (p.Gln4408Leu)
c.13175A>T (p.Gln4392Leu)
c.13163A>T (p.Gln4388Leu)
c.13025A>T (p.Gln4342Leu)
c.12872A>T (p.Gln4291Leu)
Xg.53534136T>CCA413144796HUWE1c.12677A>G (p.Gln4226Arg)
c.12893A>G (p.Gln4298Arg)
c.3360A>G
n.206A>G
c.12866A>G (p.Gln4289Arg)
c.13142A>G (p.Gln4381Arg)
c.13139A>G (p.Gln4380Arg)
c.13097A>G (p.Gln4366Arg)
c.13094A>G (p.Gln4365Arg)
c.13091A>G (p.Gln4364Arg)
c.13043A>G (p.Gln4348Arg)
c.12740A>G (p.Gln4247Arg)
c.13274A>G (p.Gln4425Arg)
c.13271A>G (p.Gln4424Arg)
c.13253A>G (p.Gln4418Arg)
c.13229A>G (p.Gln4410Arg)
c.13226A>G (p.Gln4409Arg)
c.13223A>G (p.Gln4408Arg)
c.13175A>G (p.Gln4392Arg)
c.13163A>G (p.Gln4388Arg)
c.13025A>G (p.Gln4342Arg)
c.12872A>G (p.Gln4291Arg)
Xg.53534136T>GCA413144793HUWE1c.12677A>C (p.Gln4226Pro)
c.12893A>C (p.Gln4298Pro)
c.3360A>C
n.206A>C
c.12866A>C (p.Gln4289Pro)
c.13142A>C (p.Gln4381Pro)
c.13139A>C (p.Gln4380Pro)
c.13097A>C (p.Gln4366Pro)
c.13094A>C (p.Gln4365Pro)
c.13091A>C (p.Gln4364Pro)
c.13043A>C (p.Gln4348Pro)
c.12740A>C (p.Gln4247Pro)
c.13274A>C (p.Gln4425Pro)
c.13271A>C (p.Gln4424Pro)
c.13253A>C (p.Gln4418Pro)
c.13229A>C (p.Gln4410Pro)
c.13226A>C (p.Gln4409Pro)
c.13223A>C (p.Gln4408Pro)
c.13175A>C (p.Gln4392Pro)
c.13163A>C (p.Gln4388Pro)
c.13025A>C (p.Gln4342Pro)
c.12872A>C (p.Gln4291Pro)
Xg.53534137G>ACA413144804HUWE1c.12676C>T (p.Gln4226Ter)
c.12892C>T (p.Gln4298Ter)
c.3359C>T
n.205C>T
c.12865C>T (p.Gln4289Ter)
c.13141C>T (p.Gln4381Ter)
c.13138C>T (p.Gln4380Ter)
c.13096C>T (p.Gln4366Ter)
c.13093C>T (p.Gln4365Ter)
c.13090C>T (p.Gln4364Ter)
c.13042C>T (p.Gln4348Ter)
c.12739C>T (p.Gln4247Ter)
c.13273C>T (p.Gln4425Ter)
c.13270C>T (p.Gln4424Ter)
c.13252C>T (p.Gln4418Ter)
c.13228C>T (p.Gln4410Ter)
c.13225C>T (p.Gln4409Ter)
c.13222C>T (p.Gln4408Ter)
c.13174C>T (p.Gln4392Ter)
c.13162C>T (p.Gln4388Ter)
c.13024C>T (p.Gln4342Ter)
c.12871C>T (p.Gln4291Ter)
Xg.53534137G>CCA413144806HUWE1c.12676C>G (p.Gln4226Glu)
c.12892C>G (p.Gln4298Glu)
c.3359C>G
n.205C>G
c.12865C>G (p.Gln4289Glu)
c.13141C>G (p.Gln4381Glu)
c.13138C>G (p.Gln4380Glu)
c.13096C>G (p.Gln4366Glu)
c.13093C>G (p.Gln4365Glu)
c.13090C>G (p.Gln4364Glu)
c.13042C>G (p.Gln4348Glu)
c.12739C>G (p.Gln4247Glu)
c.13273C>G (p.Gln4425Glu)
c.13270C>G (p.Gln4424Glu)
c.13252C>G (p.Gln4418Glu)
c.13228C>G (p.Gln4410Glu)
c.13225C>G (p.Gln4409Glu)
c.13222C>G (p.Gln4408Glu)
c.13174C>G (p.Gln4392Glu)
c.13162C>G (p.Gln4388Glu)
c.13024C>G (p.Gln4342Glu)
c.12871C>G (p.Gln4291Glu)
 gnomAD v4
Xg.53534137G>TCA413144809HUWE1c.12676C>A (p.Gln4226Lys)
c.12892C>A (p.Gln4298Lys)
c.3359C>A
n.205C>A
c.12865C>A (p.Gln4289Lys)
c.13141C>A (p.Gln4381Lys)
c.13138C>A (p.Gln4380Lys)
c.13096C>A (p.Gln4366Lys)
c.13093C>A (p.Gln4365Lys)
c.13090C>A (p.Gln4364Lys)
c.13042C>A (p.Gln4348Lys)
c.12739C>A (p.Gln4247Lys)
c.13273C>A (p.Gln4425Lys)
c.13270C>A (p.Gln4424Lys)
c.13252C>A (p.Gln4418Lys)
c.13228C>A (p.Gln4410Lys)
c.13225C>A (p.Gln4409Lys)
c.13222C>A (p.Gln4408Lys)
c.13174C>A (p.Gln4392Lys)
c.13162C>A (p.Gln4388Lys)
c.13024C>A (p.Gln4342Lys)
c.12871C>A (p.Gln4291Lys)
Xg.53534138delCA2579616517HUWE1c.12676del (p.Gln4226SerfsTer20)
c.12892del (p.Gln4298SerfsTer20)
c.3359del
n.205del
c.12865del (p.Gln4289SerfsTer20)
c.13141del (p.Gln4381SerfsTer20)
c.13138del (p.Gln4380SerfsTer20)
c.13096del (p.Gln4366SerfsTer20)
c.13093del (p.Gln4365SerfsTer20)
c.13090del (p.Gln4364SerfsTer20)
c.13042del (p.Gln4348SerfsTer20)
c.12739del (p.Gln4247SerfsTer20)
c.13273del (p.Gln4425SerfsTer20)
c.13270del (p.Gln4424SerfsTer20)
c.13252del (p.Gln4418SerfsTer20)
c.13228del (p.Gln4410SerfsTer20)
c.13225del (p.Gln4409SerfsTer20)
c.13222del (p.Gln4408SerfsTer20)
c.13174del (p.Gln4392SerfsTer20)
c.13162del (p.Gln4388SerfsTer20)
c.13024del (p.Gln4342SerfsTer20)
c.12871del (p.Gln4291SerfsTer20)
Xg.53534138G>ACA516419136HUWE1c.12675C>T (p.Leu4225=)
c.12891C>T (p.Leu4297=)
c.3358C>T
n.204C>T
c.12864C>T (p.Leu4288=)
c.13140C>T (p.Leu4380=)
c.13137C>T (p.Leu4379=)
c.13095C>T (p.Leu4365=)
c.13092C>T (p.Leu4364=)
c.13089C>T (p.Leu4363=)
c.13041C>T (p.Leu4347=)
c.12738C>T (p.Leu4246=)
c.13272C>T (p.Leu4424=)
c.13269C>T (p.Leu4423=)
c.13251C>T (p.Leu4417=)
c.13227C>T (p.Leu4409=)
c.13224C>T (p.Leu4408=)
c.13221C>T (p.Leu4407=)
c.13173C>T (p.Leu4391=)
c.13161C>T (p.Leu4387=)
c.13023C>T (p.Leu4341=)
c.12870C>T (p.Leu4290=)
Xg.53534138G>CCA516419137HUWE1c.12675C>G (p.Leu4225=)
c.12891C>G (p.Leu4297=)
c.3358C>G
n.204C>G
c.12864C>G (p.Leu4288=)
c.13140C>G (p.Leu4380=)
c.13137C>G (p.Leu4379=)
c.13095C>G (p.Leu4365=)
c.13092C>G (p.Leu4364=)
c.13089C>G (p.Leu4363=)
c.13041C>G (p.Leu4347=)
c.12738C>G (p.Leu4246=)
c.13272C>G (p.Leu4424=)
c.13269C>G (p.Leu4423=)
c.13251C>G (p.Leu4417=)
c.13227C>G (p.Leu4409=)
c.13224C>G (p.Leu4408=)
c.13221C>G (p.Leu4407=)
c.13173C>G (p.Leu4391=)
c.13161C>G (p.Leu4387=)
c.13023C>G (p.Leu4341=)
c.12870C>G (p.Leu4290=)
 gnomAD v4
Xg.53534138G>TCA516419139HUWE1c.12675C>A (p.Leu4225=)
c.12891C>A (p.Leu4297=)
c.3358C>A
n.204C>A
c.12864C>A (p.Leu4288=)
c.13140C>A (p.Leu4380=)
c.13137C>A (p.Leu4379=)
c.13095C>A (p.Leu4365=)
c.13092C>A (p.Leu4364=)
c.13089C>A (p.Leu4363=)
c.13041C>A (p.Leu4347=)
c.12738C>A (p.Leu4246=)
c.13272C>A (p.Leu4424=)
c.13269C>A (p.Leu4423=)
c.13251C>A (p.Leu4417=)
c.13227C>A (p.Leu4409=)
c.13224C>A (p.Leu4408=)
c.13221C>A (p.Leu4407=)
c.13173C>A (p.Leu4391=)
c.13161C>A (p.Leu4387=)
c.13023C>A (p.Leu4341=)
c.12870C>A (p.Leu4290=)
Xg.53534139A>CCA413144817HUWE1c.12674T>G (p.Leu4225Arg)
c.12890T>G (p.Leu4297Arg)
c.3357T>G
n.203T>G
c.12863T>G (p.Leu4288Arg)
c.13139T>G (p.Leu4380Arg)
c.13136T>G (p.Leu4379Arg)
c.13094T>G (p.Leu4365Arg)
c.13091T>G (p.Leu4364Arg)
c.13088T>G (p.Leu4363Arg)
c.13040T>G (p.Leu4347Arg)
c.12737T>G (p.Leu4246Arg)
c.13271T>G (p.Leu4424Arg)
c.13268T>G (p.Leu4423Arg)
c.13250T>G (p.Leu4417Arg)
c.13226T>G (p.Leu4409Arg)
c.13223T>G (p.Leu4408Arg)
c.13220T>G (p.Leu4407Arg)
c.13172T>G (p.Leu4391Arg)
c.13160T>G (p.Leu4387Arg)
c.13022T>G (p.Leu4341Arg)
c.12869T>G (p.Leu4290Arg)
Xg.53534139A>GCA413144820HUWE1c.12674T>C (p.Leu4225Pro)
c.12890T>C (p.Leu4297Pro)
c.3357T>C
n.203T>C
c.12863T>C (p.Leu4288Pro)
c.13139T>C (p.Leu4380Pro)
c.13136T>C (p.Leu4379Pro)
c.13094T>C (p.Leu4365Pro)
c.13091T>C (p.Leu4364Pro)
c.13088T>C (p.Leu4363Pro)
c.13040T>C (p.Leu4347Pro)
c.12737T>C (p.Leu4246Pro)
c.13271T>C (p.Leu4424Pro)
c.13268T>C (p.Leu4423Pro)
c.13250T>C (p.Leu4417Pro)
c.13226T>C (p.Leu4409Pro)
c.13223T>C (p.Leu4408Pro)
c.13220T>C (p.Leu4407Pro)
c.13172T>C (p.Leu4391Pro)
c.13160T>C (p.Leu4387Pro)
c.13022T>C (p.Leu4341Pro)
c.12869T>C (p.Leu4290Pro)
Xg.53534139A>TCA413144831HUWE1c.12674T>A (p.Leu4225His)
c.12890T>A (p.Leu4297His)
c.3357T>A
n.203T>A
c.12863T>A (p.Leu4288His)
c.13139T>A (p.Leu4380His)
c.13136T>A (p.Leu4379His)
c.13094T>A (p.Leu4365His)
c.13091T>A (p.Leu4364His)
c.13088T>A (p.Leu4363His)
c.13040T>A (p.Leu4347His)
c.12737T>A (p.Leu4246His)
c.13271T>A (p.Leu4424His)
c.13268T>A (p.Leu4423His)
c.13250T>A (p.Leu4417His)
c.13226T>A (p.Leu4409His)
c.13223T>A (p.Leu4408His)
c.13220T>A (p.Leu4407His)
c.13172T>A (p.Leu4391His)
c.13160T>A (p.Leu4387His)
c.13022T>A (p.Leu4341His)
c.12869T>A (p.Leu4290His)
Xg.53534140G>ACA413144838HUWE1c.12673C>T (p.Leu4225Phe)
c.12889C>T (p.Leu4297Phe)
c.3356C>T
n.202C>T
c.12862C>T (p.Leu4288Phe)
c.13138C>T (p.Leu4380Phe)
c.13135C>T (p.Leu4379Phe)
c.13093C>T (p.Leu4365Phe)
c.13090C>T (p.Leu4364Phe)
c.13087C>T (p.Leu4363Phe)
c.13039C>T (p.Leu4347Phe)
c.12736C>T (p.Leu4246Phe)
c.13270C>T (p.Leu4424Phe)
c.13267C>T (p.Leu4423Phe)
c.13249C>T (p.Leu4417Phe)
c.13225C>T (p.Leu4409Phe)
c.13222C>T (p.Leu4408Phe)
c.13219C>T (p.Leu4407Phe)
c.13171C>T (p.Leu4391Phe)
c.13159C>T (p.Leu4387Phe)
c.13021C>T (p.Leu4341Phe)
c.12868C>T (p.Leu4290Phe)
Xg.53534140G>CCA413144846HUWE1c.12673C>G (p.Leu4225Val)
c.12889C>G (p.Leu4297Val)
c.3356C>G
n.202C>G
c.12862C>G (p.Leu4288Val)
c.13138C>G (p.Leu4380Val)
c.13135C>G (p.Leu4379Val)
c.13093C>G (p.Leu4365Val)
c.13090C>G (p.Leu4364Val)
c.13087C>G (p.Leu4363Val)
c.13039C>G (p.Leu4347Val)
c.12736C>G (p.Leu4246Val)
c.13270C>G (p.Leu4424Val)
c.13267C>G (p.Leu4423Val)
c.13249C>G (p.Leu4417Val)
c.13225C>G (p.Leu4409Val)
c.13222C>G (p.Leu4408Val)
c.13219C>G (p.Leu4407Val)
c.13171C>G (p.Leu4391Val)
c.13159C>G (p.Leu4387Val)
c.13021C>G (p.Leu4341Val)
c.12868C>G (p.Leu4290Val)
Xg.53534140G>TCA413144841HUWE1c.12673C>A (p.Leu4225Ile)
c.12889C>A (p.Leu4297Ile)
c.3356C>A
n.202C>A
c.12862C>A (p.Leu4288Ile)
c.13138C>A (p.Leu4380Ile)
c.13135C>A (p.Leu4379Ile)
c.13093C>A (p.Leu4365Ile)
c.13090C>A (p.Leu4364Ile)
c.13087C>A (p.Leu4363Ile)
c.13039C>A (p.Leu4347Ile)
c.12736C>A (p.Leu4246Ile)
c.13270C>A (p.Leu4424Ile)
c.13267C>A (p.Leu4423Ile)
c.13249C>A (p.Leu4417Ile)
c.13225C>A (p.Leu4409Ile)
c.13222C>A (p.Leu4408Ile)
c.13219C>A (p.Leu4407Ile)
c.13171C>A (p.Leu4391Ile)
c.13159C>A (p.Leu4387Ile)
c.13021C>A (p.Leu4341Ile)
c.12868C>A (p.Leu4290Ile)
Xg.53534141G>ACA516419166HUWE1c.12672C>T (p.Phe4224=)
c.12888C>T (p.Phe4296=)
c.3355C>T
n.201C>T
c.12861C>T (p.Phe4287=)
c.13137C>T (p.Phe4379=)
c.13134C>T (p.Phe4378=)
c.13092C>T (p.Phe4364=)
c.13089C>T (p.Phe4363=)
c.13086C>T (p.Phe4362=)
c.13038C>T (p.Phe4346=)
c.12735C>T (p.Phe4245=)
c.13269C>T (p.Phe4423=)
c.13266C>T (p.Phe4422=)
c.13248C>T (p.Phe4416=)
c.13224C>T (p.Phe4408=)
c.13221C>T (p.Phe4407=)
c.13218C>T (p.Phe4406=)
c.13170C>T (p.Phe4390=)
c.13158C>T (p.Phe4386=)
c.13020C>T (p.Phe4340=)
c.12867C>T (p.Phe4289=)
Xg.53534141G>CCA413144854HUWE1c.12672C>G (p.Phe4224Leu)
c.12888C>G (p.Phe4296Leu)
c.3355C>G
n.201C>G
c.12861C>G (p.Phe4287Leu)
c.13137C>G (p.Phe4379Leu)
c.13134C>G (p.Phe4378Leu)
c.13092C>G (p.Phe4364Leu)
c.13089C>G (p.Phe4363Leu)
c.13086C>G (p.Phe4362Leu)
c.13038C>G (p.Phe4346Leu)
c.12735C>G (p.Phe4245Leu)
c.13269C>G (p.Phe4423Leu)
c.13266C>G (p.Phe4422Leu)
c.13248C>G (p.Phe4416Leu)
c.13224C>G (p.Phe4408Leu)
c.13221C>G (p.Phe4407Leu)
c.13218C>G (p.Phe4406Leu)
c.13170C>G (p.Phe4390Leu)
c.13158C>G (p.Phe4386Leu)
c.13020C>G (p.Phe4340Leu)
c.12867C>G (p.Phe4289Leu)
Xg.53534141G>TCA413144855HUWE1c.12672C>A (p.Phe4224Leu)
c.12888C>A (p.Phe4296Leu)
c.3355C>A
n.201C>A
c.12861C>A (p.Phe4287Leu)
c.13137C>A (p.Phe4379Leu)
c.13134C>A (p.Phe4378Leu)
c.13092C>A (p.Phe4364Leu)
c.13089C>A (p.Phe4363Leu)
c.13086C>A (p.Phe4362Leu)
c.13038C>A (p.Phe4346Leu)
c.12735C>A (p.Phe4245Leu)
c.13269C>A (p.Phe4423Leu)
c.13266C>A (p.Phe4422Leu)
c.13248C>A (p.Phe4416Leu)
c.13224C>A (p.Phe4408Leu)
c.13221C>A (p.Phe4407Leu)
c.13218C>A (p.Phe4406Leu)
c.13170C>A (p.Phe4390Leu)
c.13158C>A (p.Phe4386Leu)
c.13020C>A (p.Phe4340Leu)
c.12867C>A (p.Phe4289Leu)
Xg.53534142A>CCA413144857HUWE1c.12671T>G (p.Phe4224Cys)
c.12887T>G (p.Phe4296Cys)
c.3354T>G
n.200T>G
c.12860T>G (p.Phe4287Cys)
c.13136T>G (p.Phe4379Cys)
c.13133T>G (p.Phe4378Cys)
c.13091T>G (p.Phe4364Cys)
c.13088T>G (p.Phe4363Cys)
c.13085T>G (p.Phe4362Cys)
c.13037T>G (p.Phe4346Cys)
c.12734T>G (p.Phe4245Cys)
c.13268T>G (p.Phe4423Cys)
c.13265T>G (p.Phe4422Cys)
c.13247T>G (p.Phe4416Cys)
c.13223T>G (p.Phe4408Cys)
c.13220T>G (p.Phe4407Cys)
c.13217T>G (p.Phe4406Cys)
c.13169T>G (p.Phe4390Cys)
c.13157T>G (p.Phe4386Cys)
c.13019T>G (p.Phe4340Cys)
c.12866T>G (p.Phe4289Cys)
Xg.53534142A>GCA413144859HUWE1c.12671T>C (p.Phe4224Ser)
c.12887T>C (p.Phe4296Ser)
c.3354T>C
n.200T>C
c.12860T>C (p.Phe4287Ser)
c.13136T>C (p.Phe4379Ser)
c.13133T>C (p.Phe4378Ser)
c.13091T>C (p.Phe4364Ser)
c.13088T>C (p.Phe4363Ser)
c.13085T>C (p.Phe4362Ser)
c.13037T>C (p.Phe4346Ser)
c.12734T>C (p.Phe4245Ser)
c.13268T>C (p.Phe4423Ser)
c.13265T>C (p.Phe4422Ser)
c.13247T>C (p.Phe4416Ser)
c.13223T>C (p.Phe4408Ser)
c.13220T>C (p.Phe4407Ser)
c.13217T>C (p.Phe4406Ser)
c.13169T>C (p.Phe4390Ser)
c.13157T>C (p.Phe4386Ser)
c.13019T>C (p.Phe4340Ser)
c.12866T>C (p.Phe4289Ser)
Xg.53534142A>TCA413144864HUWE1c.12671T>A (p.Phe4224Tyr)
c.12887T>A (p.Phe4296Tyr)
c.3354T>A
n.200T>A
c.12860T>A (p.Phe4287Tyr)
c.13136T>A (p.Phe4379Tyr)
c.13133T>A (p.Phe4378Tyr)
c.13091T>A (p.Phe4364Tyr)
c.13088T>A (p.Phe4363Tyr)
c.13085T>A (p.Phe4362Tyr)
c.13037T>A (p.Phe4346Tyr)
c.12734T>A (p.Phe4245Tyr)
c.13268T>A (p.Phe4423Tyr)
c.13265T>A (p.Phe4422Tyr)
c.13247T>A (p.Phe4416Tyr)
c.13223T>A (p.Phe4408Tyr)
c.13220T>A (p.Phe4407Tyr)
c.13217T>A (p.Phe4406Tyr)
c.13169T>A (p.Phe4390Tyr)
c.13157T>A (p.Phe4386Tyr)
c.13019T>A (p.Phe4340Tyr)
c.12866T>A (p.Phe4289Tyr)
Xg.53534143A>CCA413144869HUWE1c.12670T>G (p.Phe4224Val)
c.12886T>G (p.Phe4296Val)
c.3353T>G
n.199T>G
c.12859T>G (p.Phe4287Val)
c.13135T>G (p.Phe4379Val)
c.13132T>G (p.Phe4378Val)
c.13090T>G (p.Phe4364Val)
c.13087T>G (p.Phe4363Val)
c.13084T>G (p.Phe4362Val)
c.13036T>G (p.Phe4346Val)
c.12733T>G (p.Phe4245Val)
c.13267T>G (p.Phe4423Val)
c.13264T>G (p.Phe4422Val)
c.13246T>G (p.Phe4416Val)
c.13222T>G (p.Phe4408Val)
c.13219T>G (p.Phe4407Val)
c.13216T>G (p.Phe4406Val)
c.13168T>G (p.Phe4390Val)
c.13156T>G (p.Phe4386Val)
c.13018T>G (p.Phe4340Val)
c.12865T>G (p.Phe4289Val)
Xg.53534143A>GCA413144874HUWE1c.12670T>C (p.Phe4224Leu)
c.12886T>C (p.Phe4296Leu)
c.3353T>C
n.199T>C
c.12859T>C (p.Phe4287Leu)
c.13135T>C (p.Phe4379Leu)
c.13132T>C (p.Phe4378Leu)
c.13090T>C (p.Phe4364Leu)
c.13087T>C (p.Phe4363Leu)
c.13084T>C (p.Phe4362Leu)
c.13036T>C (p.Phe4346Leu)
c.12733T>C (p.Phe4245Leu)
c.13267T>C (p.Phe4423Leu)
c.13264T>C (p.Phe4422Leu)
c.13246T>C (p.Phe4416Leu)
c.13222T>C (p.Phe4408Leu)
c.13219T>C (p.Phe4407Leu)
c.13216T>C (p.Phe4406Leu)
c.13168T>C (p.Phe4390Leu)
c.13156T>C (p.Phe4386Leu)
c.13018T>C (p.Phe4340Leu)
c.12865T>C (p.Phe4289Leu)
 gnomAD v4
Xg.53534143A>TCA413144880HUWE1c.12670T>A (p.Phe4224Ile)
c.12886T>A (p.Phe4296Ile)
c.3353T>A
n.199T>A
c.12859T>A (p.Phe4287Ile)
c.13135T>A (p.Phe4379Ile)
c.13132T>A (p.Phe4378Ile)
c.13090T>A (p.Phe4364Ile)
c.13087T>A (p.Phe4363Ile)
c.13084T>A (p.Phe4362Ile)
c.13036T>A (p.Phe4346Ile)
c.12733T>A (p.Phe4245Ile)
c.13267T>A (p.Phe4423Ile)
c.13264T>A (p.Phe4422Ile)
c.13246T>A (p.Phe4416Ile)
c.13222T>A (p.Phe4408Ile)
c.13219T>A (p.Phe4407Ile)
c.13216T>A (p.Phe4406Ile)
c.13168T>A (p.Phe4390Ile)
c.13156T>A (p.Phe4386Ile)
c.13018T>A (p.Phe4340Ile)
c.12865T>A (p.Phe4289Ile)
Xg.53534144C>ACA413144881HUWE1c.12669G>T (p.Lys4223Asn)
c.12885G>T (p.Lys4295Asn)
c.3352G>T
n.198G>T
c.12858G>T (p.Lys4286Asn)
c.13134G>T (p.Lys4378Asn)
c.13131G>T (p.Lys4377Asn)
c.13089G>T (p.Lys4363Asn)
c.13086G>T (p.Lys4362Asn)
c.13083G>T (p.Lys4361Asn)
c.13035G>T (p.Lys4345Asn)
c.12732G>T (p.Lys4244Asn)
c.13266G>T (p.Lys4422Asn)
c.13263G>T (p.Lys4421Asn)
c.13245G>T (p.Lys4415Asn)
c.13221G>T (p.Lys4407Asn)
c.13218G>T (p.Lys4406Asn)
c.13215G>T (p.Lys4405Asn)
c.13167G>T (p.Lys4389Asn)
c.13155G>T (p.Lys4385Asn)
c.13017G>T (p.Lys4339Asn)
c.12864G>T (p.Lys4288Asn)
Xg.53534144C=CA2429868916HUWE1c.12669G= (p.Lys4223=)
c.12885G= (p.Lys4295=)
c.3352G=
n.198G=
c.12858G= (p.Lys4286=)
c.13134G= (p.Lys4378=)
c.13131G= (p.Lys4377=)
c.13089G= (p.Lys4363=)
c.13086G= (p.Lys4362=)
c.13083G= (p.Lys4361=)
c.13035G= (p.Lys4345=)
c.12732G= (p.Lys4244=)
c.13266G= (p.Lys4422=)
c.13263G= (p.Lys4421=)
c.13245G= (p.Lys4415=)
c.13221G= (p.Lys4407=)
c.13218G= (p.Lys4406=)
c.13215G= (p.Lys4405=)
c.13167G= (p.Lys4389=)
c.13155G= (p.Lys4385=)
c.13017G= (p.Lys4339=)
c.12864G= (p.Lys4288=)
Xg.53534144C>GCA413144882HUWE1c.12669G>C (p.Lys4223Asn)
c.12885G>C (p.Lys4295Asn)
c.3352G>C
n.198G>C
c.12858G>C (p.Lys4286Asn)
c.13134G>C (p.Lys4378Asn)
c.13131G>C (p.Lys4377Asn)
c.13089G>C (p.Lys4363Asn)
c.13086G>C (p.Lys4362Asn)
c.13083G>C (p.Lys4361Asn)
c.13035G>C (p.Lys4345Asn)
c.12732G>C (p.Lys4244Asn)
c.13266G>C (p.Lys4422Asn)
c.13263G>C (p.Lys4421Asn)
c.13245G>C (p.Lys4415Asn)
c.13221G>C (p.Lys4407Asn)
c.13218G>C (p.Lys4406Asn)
c.13215G>C (p.Lys4405Asn)
c.13167G>C (p.Lys4389Asn)
c.13155G>C (p.Lys4385Asn)
c.13017G>C (p.Lys4339Asn)
c.12864G>C (p.Lys4288Asn)
 ClinVar dbSNP
Xg.53534144C>TCA516419202HUWE1c.12669G>A (p.Lys4223=)
c.12885G>A (p.Lys4295=)
c.3352G>A
n.198G>A
c.12858G>A (p.Lys4286=)
c.13134G>A (p.Lys4378=)
c.13131G>A (p.Lys4377=)
c.13089G>A (p.Lys4363=)
c.13086G>A (p.Lys4362=)
c.13083G>A (p.Lys4361=)
c.13035G>A (p.Lys4345=)
c.12732G>A (p.Lys4244=)
c.13266G>A (p.Lys4422=)
c.13263G>A (p.Lys4421=)
c.13245G>A (p.Lys4415=)
c.13221G>A (p.Lys4407=)
c.13218G>A (p.Lys4406=)
c.13215G>A (p.Lys4405=)
c.13167G>A (p.Lys4389=)
c.13155G>A (p.Lys4385=)
c.13017G>A (p.Lys4339=)
c.12864G>A (p.Lys4288=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534145T>ACA413144889HUWE1c.12668A>T (p.Lys4223Met)
c.12884A>T (p.Lys4295Met)
c.3351A>T
n.197A>T
c.12857A>T (p.Lys4286Met)
c.13133A>T (p.Lys4378Met)
c.13130A>T (p.Lys4377Met)
c.13088A>T (p.Lys4363Met)
c.13085A>T (p.Lys4362Met)
c.13082A>T (p.Lys4361Met)
c.13034A>T (p.Lys4345Met)
c.12731A>T (p.Lys4244Met)
c.13265A>T (p.Lys4422Met)
c.13262A>T (p.Lys4421Met)
c.13244A>T (p.Lys4415Met)
c.13220A>T (p.Lys4407Met)
c.13217A>T (p.Lys4406Met)
c.13214A>T (p.Lys4405Met)
c.13166A>T (p.Lys4389Met)
c.13154A>T (p.Lys4385Met)
c.13016A>T (p.Lys4339Met)
c.12863A>T (p.Lys4288Met)
Xg.53534145T>CCA413144885HUWE1c.12668A>G (p.Lys4223Arg)
c.12884A>G (p.Lys4295Arg)
c.3351A>G
n.197A>G
c.12857A>G (p.Lys4286Arg)
c.13133A>G (p.Lys4378Arg)
c.13130A>G (p.Lys4377Arg)
c.13088A>G (p.Lys4363Arg)
c.13085A>G (p.Lys4362Arg)
c.13082A>G (p.Lys4361Arg)
c.13034A>G (p.Lys4345Arg)
c.12731A>G (p.Lys4244Arg)
c.13265A>G (p.Lys4422Arg)
c.13262A>G (p.Lys4421Arg)
c.13244A>G (p.Lys4415Arg)
c.13220A>G (p.Lys4407Arg)
c.13217A>G (p.Lys4406Arg)
c.13214A>G (p.Lys4405Arg)
c.13166A>G (p.Lys4389Arg)
c.13154A>G (p.Lys4385Arg)
c.13016A>G (p.Lys4339Arg)
c.12863A>G (p.Lys4288Arg)
Xg.53534145T>GCA413144883HUWE1c.12668A>C (p.Lys4223Thr)
c.12884A>C (p.Lys4295Thr)
c.3351A>C
n.197A>C
c.12857A>C (p.Lys4286Thr)
c.13133A>C (p.Lys4378Thr)
c.13130A>C (p.Lys4377Thr)
c.13088A>C (p.Lys4363Thr)
c.13085A>C (p.Lys4362Thr)
c.13082A>C (p.Lys4361Thr)
c.13034A>C (p.Lys4345Thr)
c.12731A>C (p.Lys4244Thr)
c.13265A>C (p.Lys4422Thr)
c.13262A>C (p.Lys4421Thr)
c.13244A>C (p.Lys4415Thr)
c.13220A>C (p.Lys4407Thr)
c.13217A>C (p.Lys4406Thr)
c.13214A>C (p.Lys4405Thr)
c.13166A>C (p.Lys4389Thr)
c.13154A>C (p.Lys4385Thr)
c.13016A>C (p.Lys4339Thr)
c.12863A>C (p.Lys4288Thr)
Xg.53534146T>ACA413144902HUWE1c.12667A>T (p.Lys4223Ter)
c.12883A>T (p.Lys4295Ter)
c.3350A>T
n.196A>T
c.12856A>T (p.Lys4286Ter)
c.13132A>T (p.Lys4378Ter)
c.13129A>T (p.Lys4377Ter)
c.13087A>T (p.Lys4363Ter)
c.13084A>T (p.Lys4362Ter)
c.13081A>T (p.Lys4361Ter)
c.13033A>T (p.Lys4345Ter)
c.12730A>T (p.Lys4244Ter)
c.13264A>T (p.Lys4422Ter)
c.13261A>T (p.Lys4421Ter)
c.13243A>T (p.Lys4415Ter)
c.13219A>T (p.Lys4407Ter)
c.13216A>T (p.Lys4406Ter)
c.13213A>T (p.Lys4405Ter)
c.13165A>T (p.Lys4389Ter)
c.13153A>T (p.Lys4385Ter)
c.13015A>T (p.Lys4339Ter)
c.12862A>T (p.Lys4288Ter)
Xg.53534146T>CCA413144911HUWE1c.12667A>G (p.Lys4223Glu)
c.12883A>G (p.Lys4295Glu)
c.3350A>G
n.196A>G
c.12856A>G (p.Lys4286Glu)
c.13132A>G (p.Lys4378Glu)
c.13129A>G (p.Lys4377Glu)
c.13087A>G (p.Lys4363Glu)
c.13084A>G (p.Lys4362Glu)
c.13081A>G (p.Lys4361Glu)
c.13033A>G (p.Lys4345Glu)
c.12730A>G (p.Lys4244Glu)
c.13264A>G (p.Lys4422Glu)
c.13261A>G (p.Lys4421Glu)
c.13243A>G (p.Lys4415Glu)
c.13219A>G (p.Lys4407Glu)
c.13216A>G (p.Lys4406Glu)
c.13213A>G (p.Lys4405Glu)
c.13165A>G (p.Lys4389Glu)
c.13153A>G (p.Lys4385Glu)
c.13015A>G (p.Lys4339Glu)
c.12862A>G (p.Lys4288Glu)
Xg.53534146T>GCA413144926HUWE1c.12667A>C (p.Lys4223Gln)
c.12883A>C (p.Lys4295Gln)
c.3350A>C
n.196A>C
c.12856A>C (p.Lys4286Gln)
c.13132A>C (p.Lys4378Gln)
c.13129A>C (p.Lys4377Gln)
c.13087A>C (p.Lys4363Gln)
c.13084A>C (p.Lys4362Gln)
c.13081A>C (p.Lys4361Gln)
c.13033A>C (p.Lys4345Gln)
c.12730A>C (p.Lys4244Gln)
c.13264A>C (p.Lys4422Gln)
c.13261A>C (p.Lys4421Gln)
c.13243A>C (p.Lys4415Gln)
c.13219A>C (p.Lys4407Gln)
c.13216A>C (p.Lys4406Gln)
c.13213A>C (p.Lys4405Gln)
c.13165A>C (p.Lys4389Gln)
c.13153A>C (p.Lys4385Gln)
c.13015A>C (p.Lys4339Gln)
c.12862A>C (p.Lys4288Gln)
Xg.53534147G>ACA516419212HUWE1c.12666C>T (p.Ala4222=)
c.12882C>T (p.Ala4294=)
c.3349C>T
n.195C>T
c.12855C>T (p.Ala4285=)
c.13131C>T (p.Ala4377=)
c.13128C>T (p.Ala4376=)
c.13086C>T (p.Ala4362=)
c.13083C>T (p.Ala4361=)
c.13080C>T (p.Ala4360=)
c.13032C>T (p.Ala4344=)
c.12729C>T (p.Ala4243=)
c.13263C>T (p.Ala4421=)
c.13260C>T (p.Ala4420=)
c.13242C>T (p.Ala4414=)
c.13218C>T (p.Ala4406=)
c.13215C>T (p.Ala4405=)
c.13212C>T (p.Ala4404=)
c.13164C>T (p.Ala4388=)
c.13152C>T (p.Ala4384=)
c.13014C>T (p.Ala4338=)
c.12861C>T (p.Ala4287=)
Xg.53534147G>CCA10421118HUWE1c.12666C>G (p.Ala4222=)
c.12882C>G (p.Ala4294=)
c.3349C>G
n.195C>G
c.12855C>G (p.Ala4285=)
c.13131C>G (p.Ala4377=)
c.13128C>G (p.Ala4376=)
c.13086C>G (p.Ala4362=)
c.13083C>G (p.Ala4361=)
c.13080C>G (p.Ala4360=)
c.13032C>G (p.Ala4344=)
c.12729C>G (p.Ala4243=)
c.13263C>G (p.Ala4421=)
c.13260C>G (p.Ala4420=)
c.13242C>G (p.Ala4414=)
c.13218C>G (p.Ala4406=)
c.13215C>G (p.Ala4405=)
c.13212C>G (p.Ala4404=)
c.13164C>G (p.Ala4388=)
c.13152C>G (p.Ala4384=)
c.13014C>G (p.Ala4338=)
c.12861C>G (p.Ala4287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534147G=CA2429868917HUWE1c.12666C= (p.Ala4222=)
c.12882C= (p.Ala4294=)
c.3349C=
n.195C=
c.12855C= (p.Ala4285=)
c.13131C= (p.Ala4377=)
c.13128C= (p.Ala4376=)
c.13086C= (p.Ala4362=)
c.13083C= (p.Ala4361=)
c.13080C= (p.Ala4360=)
c.13032C= (p.Ala4344=)
c.12729C= (p.Ala4243=)
c.13263C= (p.Ala4421=)
c.13260C= (p.Ala4420=)
c.13242C= (p.Ala4414=)
c.13218C= (p.Ala4406=)
c.13215C= (p.Ala4405=)
c.13212C= (p.Ala4404=)
c.13164C= (p.Ala4388=)
c.13152C= (p.Ala4384=)
c.13014C= (p.Ala4338=)
c.12861C= (p.Ala4287=)
Xg.53534147G>TCA516419235HUWE1c.12666C>A (p.Ala4222=)
c.12882C>A (p.Ala4294=)
c.3349C>A
n.195C>A
c.12855C>A (p.Ala4285=)
c.13131C>A (p.Ala4377=)
c.13128C>A (p.Ala4376=)
c.13086C>A (p.Ala4362=)
c.13083C>A (p.Ala4361=)
c.13080C>A (p.Ala4360=)
c.13032C>A (p.Ala4344=)
c.12729C>A (p.Ala4243=)
c.13263C>A (p.Ala4421=)
c.13260C>A (p.Ala4420=)
c.13242C>A (p.Ala4414=)
c.13218C>A (p.Ala4406=)
c.13215C>A (p.Ala4405=)
c.13212C>A (p.Ala4404=)
c.13164C>A (p.Ala4388=)
c.13152C>A (p.Ala4384=)
c.13014C>A (p.Ala4338=)
c.12861C>A (p.Ala4287=)
Xg.53534148G>ACA413144937HUWE1c.12665C>T (p.Ala4222Val)
c.12881C>T (p.Ala4294Val)
c.3348C>T
n.194C>T
c.12854C>T (p.Ala4285Val)
c.13130C>T (p.Ala4377Val)
c.13127C>T (p.Ala4376Val)
c.13085C>T (p.Ala4362Val)
c.13082C>T (p.Ala4361Val)
c.13079C>T (p.Ala4360Val)
c.13031C>T (p.Ala4344Val)
c.12728C>T (p.Ala4243Val)
c.13262C>T (p.Ala4421Val)
c.13259C>T (p.Ala4420Val)
c.13241C>T (p.Ala4414Val)
c.13217C>T (p.Ala4406Val)
c.13214C>T (p.Ala4405Val)
c.13211C>T (p.Ala4404Val)
c.13163C>T (p.Ala4388Val)
c.13151C>T (p.Ala4384Val)
c.13013C>T (p.Ala4338Val)
c.12860C>T (p.Ala4287Val)
Xg.53534148G>CCA413144939HUWE1c.12665C>G (p.Ala4222Gly)
c.12881C>G (p.Ala4294Gly)
c.3348C>G
n.194C>G
c.12854C>G (p.Ala4285Gly)
c.13130C>G (p.Ala4377Gly)
c.13127C>G (p.Ala4376Gly)
c.13085C>G (p.Ala4362Gly)
c.13082C>G (p.Ala4361Gly)
c.13079C>G (p.Ala4360Gly)
c.13031C>G (p.Ala4344Gly)
c.12728C>G (p.Ala4243Gly)
c.13262C>G (p.Ala4421Gly)
c.13259C>G (p.Ala4420Gly)
c.13241C>G (p.Ala4414Gly)
c.13217C>G (p.Ala4406Gly)
c.13214C>G (p.Ala4405Gly)
c.13211C>G (p.Ala4404Gly)
c.13163C>G (p.Ala4388Gly)
c.13151C>G (p.Ala4384Gly)
c.13013C>G (p.Ala4338Gly)
c.12860C>G (p.Ala4287Gly)
Xg.53534148G>TCA413144943HUWE1c.12665C>A (p.Ala4222Asp)
c.12881C>A (p.Ala4294Asp)
c.3348C>A
n.194C>A
c.12854C>A (p.Ala4285Asp)
c.13130C>A (p.Ala4377Asp)
c.13127C>A (p.Ala4376Asp)
c.13085C>A (p.Ala4362Asp)
c.13082C>A (p.Ala4361Asp)
c.13079C>A (p.Ala4360Asp)
c.13031C>A (p.Ala4344Asp)
c.12728C>A (p.Ala4243Asp)
c.13262C>A (p.Ala4421Asp)
c.13259C>A (p.Ala4420Asp)
c.13241C>A (p.Ala4414Asp)
c.13217C>A (p.Ala4406Asp)
c.13214C>A (p.Ala4405Asp)
c.13211C>A (p.Ala4404Asp)
c.13163C>A (p.Ala4388Asp)
c.13151C>A (p.Ala4384Asp)
c.13013C>A (p.Ala4338Asp)
c.12860C>A (p.Ala4287Asp)
Xg.53534149C>ACA413144950HUWE1c.12664G>T (p.Ala4222Ser)
c.12880G>T (p.Ala4294Ser)
c.3347G>T
n.193G>T
c.12853G>T (p.Ala4285Ser)
c.13129G>T (p.Ala4377Ser)
c.13126G>T (p.Ala4376Ser)
c.13084G>T (p.Ala4362Ser)
c.13081G>T (p.Ala4361Ser)
c.13078G>T (p.Ala4360Ser)
c.13030G>T (p.Ala4344Ser)
c.12727G>T (p.Ala4243Ser)
c.13261G>T (p.Ala4421Ser)
c.13258G>T (p.Ala4420Ser)
c.13240G>T (p.Ala4414Ser)
c.13216G>T (p.Ala4406Ser)
c.13213G>T (p.Ala4405Ser)
c.13210G>T (p.Ala4404Ser)
c.13162G>T (p.Ala4388Ser)
c.13150G>T (p.Ala4384Ser)
c.13012G>T (p.Ala4338Ser)
c.12859G>T (p.Ala4287Ser)
Xg.53534149C=CA2429868918HUWE1c.12664G= (p.Ala4222=)
c.12880G= (p.Ala4294=)
c.3347G=
n.193G=
c.12853G= (p.Ala4285=)
c.13129G= (p.Ala4377=)
c.13126G= (p.Ala4376=)
c.13084G= (p.Ala4362=)
c.13081G= (p.Ala4361=)
c.13078G= (p.Ala4360=)
c.13030G= (p.Ala4344=)
c.12727G= (p.Ala4243=)
c.13261G= (p.Ala4421=)
c.13258G= (p.Ala4420=)
c.13240G= (p.Ala4414=)
c.13216G= (p.Ala4406=)
c.13213G= (p.Ala4405=)
c.13210G= (p.Ala4404=)
c.13162G= (p.Ala4388=)
c.13150G= (p.Ala4384=)
c.13012G= (p.Ala4338=)
c.12859G= (p.Ala4287=)
Xg.53534149C>GCA413144965HUWE1c.12664G>C (p.Ala4222Pro)
c.12880G>C (p.Ala4294Pro)
c.3347G>C
n.193G>C
c.12853G>C (p.Ala4285Pro)
c.13129G>C (p.Ala4377Pro)
c.13126G>C (p.Ala4376Pro)
c.13084G>C (p.Ala4362Pro)
c.13081G>C (p.Ala4361Pro)
c.13078G>C (p.Ala4360Pro)
c.13030G>C (p.Ala4344Pro)
c.12727G>C (p.Ala4243Pro)
c.13261G>C (p.Ala4421Pro)
c.13258G>C (p.Ala4420Pro)
c.13240G>C (p.Ala4414Pro)
c.13216G>C (p.Ala4406Pro)
c.13213G>C (p.Ala4405Pro)
c.13210G>C (p.Ala4404Pro)
c.13162G>C (p.Ala4388Pro)
c.13150G>C (p.Ala4384Pro)
c.13012G>C (p.Ala4338Pro)
c.12859G>C (p.Ala4287Pro)
Xg.53534149C>TCA413144969HUWE1c.12664G>A (p.Ala4222Thr)
c.12880G>A (p.Ala4294Thr)
c.3347G>A
n.193G>A
c.12853G>A (p.Ala4285Thr)
c.13129G>A (p.Ala4377Thr)
c.13126G>A (p.Ala4376Thr)
c.13084G>A (p.Ala4362Thr)
c.13081G>A (p.Ala4361Thr)
c.13078G>A (p.Ala4360Thr)
c.13030G>A (p.Ala4344Thr)
c.12727G>A (p.Ala4243Thr)
c.13261G>A (p.Ala4421Thr)
c.13258G>A (p.Ala4420Thr)
c.13240G>A (p.Ala4414Thr)
c.13216G>A (p.Ala4406Thr)
c.13213G>A (p.Ala4405Thr)
c.13210G>A (p.Ala4404Thr)
c.13162G>A (p.Ala4388Thr)
c.13150G>A (p.Ala4384Thr)
c.13012G>A (p.Ala4338Thr)
c.12859G>A (p.Ala4287Thr)
 ClinVar dbSNP
Xg.53534150A>CCA516419252HUWE1c.12663T>G (p.Arg4221=)
c.12879T>G (p.Arg4293=)
c.3346T>G
n.192T>G
c.12852T>G (p.Arg4284=)
c.13128T>G (p.Arg4376=)
c.13125T>G (p.Arg4375=)
c.13083T>G (p.Arg4361=)
c.13080T>G (p.Arg4360=)
c.13077T>G (p.Arg4359=)
c.13029T>G (p.Arg4343=)
c.12726T>G (p.Arg4242=)
c.13260T>G (p.Arg4420=)
c.13257T>G (p.Arg4419=)
c.13239T>G (p.Arg4413=)
c.13215T>G (p.Arg4405=)
c.13212T>G (p.Arg4404=)
c.13209T>G (p.Arg4403=)
c.13161T>G (p.Arg4387=)
c.13149T>G (p.Arg4383=)
c.13011T>G (p.Arg4337=)
c.12858T>G (p.Arg4286=)
Xg.53534150A>GCA516419254HUWE1c.12663T>C (p.Arg4221=)
c.12879T>C (p.Arg4293=)
c.3346T>C
n.192T>C
c.12852T>C (p.Arg4284=)
c.13128T>C (p.Arg4376=)
c.13125T>C (p.Arg4375=)
c.13083T>C (p.Arg4361=)
c.13080T>C (p.Arg4360=)
c.13077T>C (p.Arg4359=)
c.13029T>C (p.Arg4343=)
c.12726T>C (p.Arg4242=)
c.13260T>C (p.Arg4420=)
c.13257T>C (p.Arg4419=)
c.13239T>C (p.Arg4413=)
c.13215T>C (p.Arg4405=)
c.13212T>C (p.Arg4404=)
c.13209T>C (p.Arg4403=)
c.13161T>C (p.Arg4387=)
c.13149T>C (p.Arg4383=)
c.13011T>C (p.Arg4337=)
c.12858T>C (p.Arg4286=)
Xg.53534150A>TCA516419257HUWE1c.12663T>A (p.Arg4221=)
c.12879T>A (p.Arg4293=)
c.3346T>A
n.192T>A
c.12852T>A (p.Arg4284=)
c.13128T>A (p.Arg4376=)
c.13125T>A (p.Arg4375=)
c.13083T>A (p.Arg4361=)
c.13080T>A (p.Arg4360=)
c.13077T>A (p.Arg4359=)
c.13029T>A (p.Arg4343=)
c.12726T>A (p.Arg4242=)
c.13260T>A (p.Arg4420=)
c.13257T>A (p.Arg4419=)
c.13239T>A (p.Arg4413=)
c.13215T>A (p.Arg4405=)
c.13212T>A (p.Arg4404=)
c.13209T>A (p.Arg4403=)
c.13161T>A (p.Arg4387=)
c.13149T>A (p.Arg4383=)
c.13011T>A (p.Arg4337=)
c.12858T>A (p.Arg4286=)
Xg.53534151C>ACA413144976HUWE1c.12662G>T (p.Arg4221Leu)
c.12878G>T (p.Arg4293Leu)
c.3345G>T
n.191G>T
c.12851G>T (p.Arg4284Leu)
c.13127G>T (p.Arg4376Leu)
c.13124G>T (p.Arg4375Leu)
c.13082G>T (p.Arg4361Leu)
c.13079G>T (p.Arg4360Leu)
c.13076G>T (p.Arg4359Leu)
c.13028G>T (p.Arg4343Leu)
c.12725G>T (p.Arg4242Leu)
c.13259G>T (p.Arg4420Leu)
c.13256G>T (p.Arg4419Leu)
c.13238G>T (p.Arg4413Leu)
c.13214G>T (p.Arg4405Leu)
c.13211G>T (p.Arg4404Leu)
c.13208G>T (p.Arg4403Leu)
c.13160G>T (p.Arg4387Leu)
c.13148G>T (p.Arg4383Leu)
c.13010G>T (p.Arg4337Leu)
c.12857G>T (p.Arg4286Leu)
Xg.53534151C=CA2429868919HUWE1c.12662G= (p.Arg4221=)
c.12878G= (p.Arg4293=)
c.3345G=
n.191G=
c.12851G= (p.Arg4284=)
c.13127G= (p.Arg4376=)
c.13124G= (p.Arg4375=)
c.13082G= (p.Arg4361=)
c.13079G= (p.Arg4360=)
c.13076G= (p.Arg4359=)
c.13028G= (p.Arg4343=)
c.12725G= (p.Arg4242=)
c.13259G= (p.Arg4420=)
c.13256G= (p.Arg4419=)
c.13238G= (p.Arg4413=)
c.13214G= (p.Arg4405=)
c.13211G= (p.Arg4404=)
c.13208G= (p.Arg4403=)
c.13160G= (p.Arg4387=)
c.13148G= (p.Arg4383=)
c.13010G= (p.Arg4337=)
c.12857G= (p.Arg4286=)
Xg.53534151C>GCA413144982HUWE1c.12662G>C (p.Arg4221Pro)
c.12878G>C (p.Arg4293Pro)
c.3345G>C
n.191G>C
c.12851G>C (p.Arg4284Pro)
c.13127G>C (p.Arg4376Pro)
c.13124G>C (p.Arg4375Pro)
c.13082G>C (p.Arg4361Pro)
c.13079G>C (p.Arg4360Pro)
c.13076G>C (p.Arg4359Pro)
c.13028G>C (p.Arg4343Pro)
c.12725G>C (p.Arg4242Pro)
c.13259G>C (p.Arg4420Pro)
c.13256G>C (p.Arg4419Pro)
c.13238G>C (p.Arg4413Pro)
c.13214G>C (p.Arg4405Pro)
c.13211G>C (p.Arg4404Pro)
c.13208G>C (p.Arg4403Pro)
c.13160G>C (p.Arg4387Pro)
c.13148G>C (p.Arg4383Pro)
c.13010G>C (p.Arg4337Pro)
c.12857G>C (p.Arg4286Pro)
Xg.53534151C>TCA413144992HUWE1c.12662G>A (p.Arg4221His)
c.12878G>A (p.Arg4293His)
c.3345G>A
n.191G>A
c.12851G>A (p.Arg4284His)
c.13127G>A (p.Arg4376His)
c.13124G>A (p.Arg4375His)
c.13082G>A (p.Arg4361His)
c.13079G>A (p.Arg4360His)
c.13076G>A (p.Arg4359His)
c.13028G>A (p.Arg4343His)
c.12725G>A (p.Arg4242His)
c.13259G>A (p.Arg4420His)
c.13256G>A (p.Arg4419His)
c.13238G>A (p.Arg4413His)
c.13214G>A (p.Arg4405His)
c.13211G>A (p.Arg4404His)
c.13208G>A (p.Arg4403His)
c.13160G>A (p.Arg4387His)
c.13148G>A (p.Arg4383His)
c.13010G>A (p.Arg4337His)
c.12857G>A (p.Arg4286His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53534152G>ACA413145009HUWE1c.12661C>T (p.Arg4221Cys)
c.12877C>T (p.Arg4293Cys)
c.3344C>T
n.190C>T
c.12850C>T (p.Arg4284Cys)
c.13126C>T (p.Arg4376Cys)
c.13123C>T (p.Arg4375Cys)
c.13081C>T (p.Arg4361Cys)
c.13078C>T (p.Arg4360Cys)
c.13075C>T (p.Arg4359Cys)
c.13027C>T (p.Arg4343Cys)
c.12724C>T (p.Arg4242Cys)
c.13258C>T (p.Arg4420Cys)
c.13255C>T (p.Arg4419Cys)
c.13237C>T (p.Arg4413Cys)
c.13213C>T (p.Arg4405Cys)
c.13210C>T (p.Arg4404Cys)
c.13207C>T (p.Arg4403Cys)
c.13159C>T (p.Arg4387Cys)
c.13147C>T (p.Arg4383Cys)
c.13009C>T (p.Arg4337Cys)
c.12856C>T (p.Arg4286Cys)
Xg.53534152G>CCA413144998HUWE1c.12661C>G (p.Arg4221Gly)
c.12877C>G (p.Arg4293Gly)
c.3344C>G
n.190C>G
c.12850C>G (p.Arg4284Gly)
c.13126C>G (p.Arg4376Gly)
c.13123C>G (p.Arg4375Gly)
c.13081C>G (p.Arg4361Gly)
c.13078C>G (p.Arg4360Gly)
c.13075C>G (p.Arg4359Gly)
c.13027C>G (p.Arg4343Gly)
c.12724C>G (p.Arg4242Gly)
c.13258C>G (p.Arg4420Gly)
c.13255C>G (p.Arg4419Gly)
c.13237C>G (p.Arg4413Gly)
c.13213C>G (p.Arg4405Gly)
c.13210C>G (p.Arg4404Gly)
c.13207C>G (p.Arg4403Gly)
c.13159C>G (p.Arg4387Gly)
c.13147C>G (p.Arg4383Gly)
c.13009C>G (p.Arg4337Gly)
c.12856C>G (p.Arg4286Gly)
Xg.53534152G>TCA413145002HUWE1c.12661C>A (p.Arg4221Ser)
c.12877C>A (p.Arg4293Ser)
c.3344C>A
n.190C>A
c.12850C>A (p.Arg4284Ser)
c.13126C>A (p.Arg4376Ser)
c.13123C>A (p.Arg4375Ser)
c.13081C>A (p.Arg4361Ser)
c.13078C>A (p.Arg4360Ser)
c.13075C>A (p.Arg4359Ser)
c.13027C>A (p.Arg4343Ser)
c.12724C>A (p.Arg4242Ser)
c.13258C>A (p.Arg4420Ser)
c.13255C>A (p.Arg4419Ser)
c.13237C>A (p.Arg4413Ser)
c.13213C>A (p.Arg4405Ser)
c.13210C>A (p.Arg4404Ser)
c.13207C>A (p.Arg4403Ser)
c.13159C>A (p.Arg4387Ser)
c.13147C>A (p.Arg4383Ser)
c.13009C>A (p.Arg4337Ser)
c.12856C>A (p.Arg4286Ser)
Xg.53534153G>ACA516419315HUWE1c.12660C>T (p.Asp4220=)
c.12876C>T (p.Asp4292=)
c.3343C>T
n.189C>T
c.12849C>T (p.Asp4283=)
c.13125C>T (p.Asp4375=)
c.13122C>T (p.Asp4374=)
c.13080C>T (p.Asp4360=)
c.13077C>T (p.Asp4359=)
c.13074C>T (p.Asp4358=)
c.13026C>T (p.Asp4342=)
c.12723C>T (p.Asp4241=)
c.13257C>T (p.Asp4419=)
c.13254C>T (p.Asp4418=)
c.13236C>T (p.Asp4412=)
c.13212C>T (p.Asp4404=)
c.13209C>T (p.Asp4403=)
c.13206C>T (p.Asp4402=)
c.13158C>T (p.Asp4386=)
c.13146C>T (p.Asp4382=)
c.13008C>T (p.Asp4336=)
c.12855C>T (p.Asp4285=)
Xg.53534153G>CCA413145013HUWE1c.12660C>G (p.Asp4220Glu)
c.12876C>G (p.Asp4292Glu)
c.3343C>G
n.189C>G
c.12849C>G (p.Asp4283Glu)
c.13125C>G (p.Asp4375Glu)
c.13122C>G (p.Asp4374Glu)
c.13080C>G (p.Asp4360Glu)
c.13077C>G (p.Asp4359Glu)
c.13074C>G (p.Asp4358Glu)
c.13026C>G (p.Asp4342Glu)
c.12723C>G (p.Asp4241Glu)
c.13257C>G (p.Asp4419Glu)
c.13254C>G (p.Asp4418Glu)
c.13236C>G (p.Asp4412Glu)
c.13212C>G (p.Asp4404Glu)
c.13209C>G (p.Asp4403Glu)
c.13206C>G (p.Asp4402Glu)
c.13158C>G (p.Asp4386Glu)
c.13146C>G (p.Asp4382Glu)
c.13008C>G (p.Asp4336Glu)
c.12855C>G (p.Asp4285Glu)
Xg.53534153G>TCA413145018HUWE1c.12660C>A (p.Asp4220Glu)
c.12876C>A (p.Asp4292Glu)
c.3343C>A
n.189C>A
c.12849C>A (p.Asp4283Glu)
c.13125C>A (p.Asp4375Glu)
c.13122C>A (p.Asp4374Glu)
c.13080C>A (p.Asp4360Glu)
c.13077C>A (p.Asp4359Glu)
c.13074C>A (p.Asp4358Glu)
c.13026C>A (p.Asp4342Glu)
c.12723C>A (p.Asp4241Glu)
c.13257C>A (p.Asp4419Glu)
c.13254C>A (p.Asp4418Glu)
c.13236C>A (p.Asp4412Glu)
c.13212C>A (p.Asp4404Glu)
c.13209C>A (p.Asp4403Glu)
c.13206C>A (p.Asp4402Glu)
c.13158C>A (p.Asp4386Glu)
c.13146C>A (p.Asp4382Glu)
c.13008C>A (p.Asp4336Glu)
c.12855C>A (p.Asp4285Glu)
Xg.53534154T>ACA413145026HUWE1c.12659A>T (p.Asp4220Val)
c.12875A>T (p.Asp4292Val)
c.3342A>T
n.188A>T
c.12848A>T (p.Asp4283Val)
c.13124A>T (p.Asp4375Val)
c.13121A>T (p.Asp4374Val)
c.13079A>T (p.Asp4360Val)
c.13076A>T (p.Asp4359Val)
c.13073A>T (p.Asp4358Val)
c.13025A>T (p.Asp4342Val)
c.12722A>T (p.Asp4241Val)
c.13256A>T (p.Asp4419Val)
c.13253A>T (p.Asp4418Val)
c.13235A>T (p.Asp4412Val)
c.13211A>T (p.Asp4404Val)
c.13208A>T (p.Asp4403Val)
c.13205A>T (p.Asp4402Val)
c.13157A>T (p.Asp4386Val)
c.13145A>T (p.Asp4382Val)
c.13007A>T (p.Asp4336Val)
c.12854A>T (p.Asp4285Val)
Xg.53534154T>CCA413145029HUWE1c.12659A>G (p.Asp4220Gly)
c.12875A>G (p.Asp4292Gly)
c.3342A>G
n.188A>G
c.12848A>G (p.Asp4283Gly)
c.13124A>G (p.Asp4375Gly)
c.13121A>G (p.Asp4374Gly)
c.13079A>G (p.Asp4360Gly)
c.13076A>G (p.Asp4359Gly)
c.13073A>G (p.Asp4358Gly)
c.13025A>G (p.Asp4342Gly)
c.12722A>G (p.Asp4241Gly)
c.13256A>G (p.Asp4419Gly)
c.13253A>G (p.Asp4418Gly)
c.13235A>G (p.Asp4412Gly)
c.13211A>G (p.Asp4404Gly)
c.13208A>G (p.Asp4403Gly)
c.13205A>G (p.Asp4402Gly)
c.13157A>G (p.Asp4386Gly)
c.13145A>G (p.Asp4382Gly)
c.13007A>G (p.Asp4336Gly)
c.12854A>G (p.Asp4285Gly)
Xg.53534154T>GCA413145035HUWE1c.12659A>C (p.Asp4220Ala)
c.12875A>C (p.Asp4292Ala)
c.3342A>C
n.188A>C
c.12848A>C (p.Asp4283Ala)
c.13124A>C (p.Asp4375Ala)
c.13121A>C (p.Asp4374Ala)
c.13079A>C (p.Asp4360Ala)
c.13076A>C (p.Asp4359Ala)
c.13073A>C (p.Asp4358Ala)
c.13025A>C (p.Asp4342Ala)
c.12722A>C (p.Asp4241Ala)
c.13256A>C (p.Asp4419Ala)
c.13253A>C (p.Asp4418Ala)
c.13235A>C (p.Asp4412Ala)
c.13211A>C (p.Asp4404Ala)
c.13208A>C (p.Asp4403Ala)
c.13205A>C (p.Asp4402Ala)
c.13157A>C (p.Asp4386Ala)
c.13145A>C (p.Asp4382Ala)
c.13007A>C (p.Asp4336Ala)
c.12854A>C (p.Asp4285Ala)
Xg.53534155C>ACA413145042HUWE1c.12658G>T (p.Asp4220Tyr)
c.12874G>T (p.Asp4292Tyr)
c.3341G>T
n.187G>T
c.12847G>T (p.Asp4283Tyr)
c.13123G>T (p.Asp4375Tyr)
c.13120G>T (p.Asp4374Tyr)
c.13078G>T (p.Asp4360Tyr)
c.13075G>T (p.Asp4359Tyr)
c.13072G>T (p.Asp4358Tyr)
c.13024G>T (p.Asp4342Tyr)
c.12721G>T (p.Asp4241Tyr)
c.13255G>T (p.Asp4419Tyr)
c.13252G>T (p.Asp4418Tyr)
c.13234G>T (p.Asp4412Tyr)
c.13210G>T (p.Asp4404Tyr)
c.13207G>T (p.Asp4403Tyr)
c.13204G>T (p.Asp4402Tyr)
c.13156G>T (p.Asp4386Tyr)
c.13144G>T (p.Asp4382Tyr)
c.13006G>T (p.Asp4336Tyr)
c.12853G>T (p.Asp4285Tyr)
Xg.53534155C>GCA413145047HUWE1c.12658G>C (p.Asp4220His)
c.12874G>C (p.Asp4292His)
c.3341G>C
n.187G>C
c.12847G>C (p.Asp4283His)
c.13123G>C (p.Asp4375His)
c.13120G>C (p.Asp4374His)
c.13078G>C (p.Asp4360His)
c.13075G>C (p.Asp4359His)
c.13072G>C (p.Asp4358His)
c.13024G>C (p.Asp4342His)
c.12721G>C (p.Asp4241His)
c.13255G>C (p.Asp4419His)
c.13252G>C (p.Asp4418His)
c.13234G>C (p.Asp4412His)
c.13210G>C (p.Asp4404His)
c.13207G>C (p.Asp4403His)
c.13204G>C (p.Asp4402His)
c.13156G>C (p.Asp4386His)
c.13144G>C (p.Asp4382His)
c.13006G>C (p.Asp4336His)
c.12853G>C (p.Asp4285His)
Xg.53534155C>TCA413145057HUWE1c.12658G>A (p.Asp4220Asn)
c.12874G>A (p.Asp4292Asn)
c.3341G>A
n.187G>A
c.12847G>A (p.Asp4283Asn)
c.13123G>A (p.Asp4375Asn)
c.13120G>A (p.Asp4374Asn)
c.13078G>A (p.Asp4360Asn)
c.13075G>A (p.Asp4359Asn)
c.13072G>A (p.Asp4358Asn)
c.13024G>A (p.Asp4342Asn)
c.12721G>A (p.Asp4241Asn)
c.13255G>A (p.Asp4419Asn)
c.13252G>A (p.Asp4418Asn)
c.13234G>A (p.Asp4412Asn)
c.13210G>A (p.Asp4404Asn)
c.13207G>A (p.Asp4403Asn)
c.13204G>A (p.Asp4402Asn)
c.13156G>A (p.Asp4386Asn)
c.13144G>A (p.Asp4382Asn)
c.13006G>A (p.Asp4336Asn)
c.12853G>A (p.Asp4285Asn)
Xg.53534156A=CA2429868920HUWE1c.12657T= (p.Ala4219=)
c.12873T= (p.Ala4291=)
c.3340T=
n.186T=
c.12846T= (p.Ala4282=)
c.13122T= (p.Ala4374=)
c.13119T= (p.Ala4373=)
c.13077T= (p.Ala4359=)
c.13074T= (p.Ala4358=)
c.13071T= (p.Ala4357=)
c.13023T= (p.Ala4341=)
c.12720T= (p.Ala4240=)
c.13254T= (p.Ala4418=)
c.13251T= (p.Ala4417=)
c.13233T= (p.Ala4411=)
c.13209T= (p.Ala4403=)
c.13206T= (p.Ala4402=)
c.13203T= (p.Ala4401=)
c.13155T= (p.Ala4385=)
c.13143T= (p.Ala4381=)
c.13005T= (p.Ala4335=)
c.12852T= (p.Ala4284=)
Xg.53534156A>CCA516419327HUWE1c.12657T>G (p.Ala4219=)
c.12873T>G (p.Ala4291=)
c.3340T>G
n.186T>G
c.12846T>G (p.Ala4282=)
c.13122T>G (p.Ala4374=)
c.13119T>G (p.Ala4373=)
c.13077T>G (p.Ala4359=)
c.13074T>G (p.Ala4358=)
c.13071T>G (p.Ala4357=)
c.13023T>G (p.Ala4341=)
c.12720T>G (p.Ala4240=)
c.13254T>G (p.Ala4418=)
c.13251T>G (p.Ala4417=)
c.13233T>G (p.Ala4411=)
c.13209T>G (p.Ala4403=)
c.13206T>G (p.Ala4402=)
c.13203T>G (p.Ala4401=)
c.13155T>G (p.Ala4385=)
c.13143T>G (p.Ala4381=)
c.13005T>G (p.Ala4335=)
c.12852T>G (p.Ala4284=)
Xg.53534156A>GCA516419329HUWE1c.12657T>C (p.Ala4219=)
c.12873T>C (p.Ala4291=)
c.3340T>C
n.186T>C
c.12846T>C (p.Ala4282=)
c.13122T>C (p.Ala4374=)
c.13119T>C (p.Ala4373=)
c.13077T>C (p.Ala4359=)
c.13074T>C (p.Ala4358=)
c.13071T>C (p.Ala4357=)
c.13023T>C (p.Ala4341=)
c.12720T>C (p.Ala4240=)
c.13254T>C (p.Ala4418=)
c.13251T>C (p.Ala4417=)
c.13233T>C (p.Ala4411=)
c.13209T>C (p.Ala4403=)
c.13206T>C (p.Ala4402=)
c.13203T>C (p.Ala4401=)
c.13155T>C (p.Ala4385=)
c.13143T>C (p.Ala4381=)
c.13005T>C (p.Ala4335=)
c.12852T>C (p.Ala4284=)
 gnomAD v4
Xg.53534156A>TCA516419339HUWE1c.12657T>A (p.Ala4219=)
c.12873T>A (p.Ala4291=)
c.3340T>A
n.186T>A
c.12846T>A (p.Ala4282=)
c.13122T>A (p.Ala4374=)
c.13119T>A (p.Ala4373=)
c.13077T>A (p.Ala4359=)
c.13074T>A (p.Ala4358=)
c.13071T>A (p.Ala4357=)
c.13023T>A (p.Ala4341=)
c.12720T>A (p.Ala4240=)
c.13254T>A (p.Ala4418=)
c.13251T>A (p.Ala4417=)
c.13233T>A (p.Ala4411=)
c.13209T>A (p.Ala4403=)
c.13206T>A (p.Ala4402=)
c.13203T>A (p.Ala4401=)
c.13155T>A (p.Ala4385=)
c.13143T>A (p.Ala4381=)
c.13005T>A (p.Ala4335=)
c.12852T>A (p.Ala4284=)
 dbSNP
Xg.53534157G>ACA413145062HUWE1c.12656C>T (p.Ala4219Val)
c.12872C>T (p.Ala4291Val)
c.3339C>T
n.185C>T
c.12845C>T (p.Ala4282Val)
c.13121C>T (p.Ala4374Val)
c.13118C>T (p.Ala4373Val)
c.13076C>T (p.Ala4359Val)
c.13073C>T (p.Ala4358Val)
c.13070C>T (p.Ala4357Val)
c.13022C>T (p.Ala4341Val)
c.12719C>T (p.Ala4240Val)
c.13253C>T (p.Ala4418Val)
c.13250C>T (p.Ala4417Val)
c.13232C>T (p.Ala4411Val)
c.13208C>T (p.Ala4403Val)
c.13205C>T (p.Ala4402Val)
c.13202C>T (p.Ala4401Val)
c.13154C>T (p.Ala4385Val)
c.13142C>T (p.Ala4381Val)
c.13004C>T (p.Ala4335Val)
c.12851C>T (p.Ala4284Val)
Xg.53534157G>CCA413145067HUWE1c.12656C>G (p.Ala4219Gly)
c.12872C>G (p.Ala4291Gly)
c.3339C>G
n.185C>G
c.12845C>G (p.Ala4282Gly)
c.13121C>G (p.Ala4374Gly)
c.13118C>G (p.Ala4373Gly)
c.13076C>G (p.Ala4359Gly)
c.13073C>G (p.Ala4358Gly)
c.13070C>G (p.Ala4357Gly)
c.13022C>G (p.Ala4341Gly)
c.12719C>G (p.Ala4240Gly)
c.13253C>G (p.Ala4418Gly)
c.13250C>G (p.Ala4417Gly)
c.13232C>G (p.Ala4411Gly)
c.13208C>G (p.Ala4403Gly)
c.13205C>G (p.Ala4402Gly)
c.13202C>G (p.Ala4401Gly)
c.13154C>G (p.Ala4385Gly)
c.13142C>G (p.Ala4381Gly)
c.13004C>G (p.Ala4335Gly)
c.12851C>G (p.Ala4284Gly)
Xg.53534157G>TCA413145072HUWE1c.12656C>A (p.Ala4219Asp)
c.12872C>A (p.Ala4291Asp)
c.3339C>A
n.185C>A
c.12845C>A (p.Ala4282Asp)
c.13121C>A (p.Ala4374Asp)
c.13118C>A (p.Ala4373Asp)
c.13076C>A (p.Ala4359Asp)
c.13073C>A (p.Ala4358Asp)
c.13070C>A (p.Ala4357Asp)
c.13022C>A (p.Ala4341Asp)
c.12719C>A (p.Ala4240Asp)
c.13253C>A (p.Ala4418Asp)
c.13250C>A (p.Ala4417Asp)
c.13232C>A (p.Ala4411Asp)
c.13208C>A (p.Ala4403Asp)
c.13205C>A (p.Ala4402Asp)
c.13202C>A (p.Ala4401Asp)
c.13154C>A (p.Ala4385Asp)
c.13142C>A (p.Ala4381Asp)
c.13004C>A (p.Ala4335Asp)
c.12851C>A (p.Ala4284Asp)
 gnomAD v4
Xg.53534158C>ACA413145098HUWE1c.12655G>T (p.Ala4219Ser)
c.12871G>T (p.Ala4291Ser)
c.3338G>T
n.184G>T
c.12844G>T (p.Ala4282Ser)
c.13120G>T (p.Ala4374Ser)
c.13117G>T (p.Ala4373Ser)
c.13075G>T (p.Ala4359Ser)
c.13072G>T (p.Ala4358Ser)
c.13069G>T (p.Ala4357Ser)
c.13021G>T (p.Ala4341Ser)
c.12718G>T (p.Ala4240Ser)
c.13252G>T (p.Ala4418Ser)
c.13249G>T (p.Ala4417Ser)
c.13231G>T (p.Ala4411Ser)
c.13207G>T (p.Ala4403Ser)
c.13204G>T (p.Ala4402Ser)
c.13201G>T (p.Ala4401Ser)
c.13153G>T (p.Ala4385Ser)
c.13141G>T (p.Ala4381Ser)
c.13003G>T (p.Ala4335Ser)
c.12850G>T (p.Ala4284Ser)
Xg.53534158C>GCA413145088HUWE1c.12655G>C (p.Ala4219Pro)
c.12871G>C (p.Ala4291Pro)
c.3338G>C
n.184G>C
c.12844G>C (p.Ala4282Pro)
c.13120G>C (p.Ala4374Pro)
c.13117G>C (p.Ala4373Pro)
c.13075G>C (p.Ala4359Pro)
c.13072G>C (p.Ala4358Pro)
c.13069G>C (p.Ala4357Pro)
c.13021G>C (p.Ala4341Pro)
c.12718G>C (p.Ala4240Pro)
c.13252G>C (p.Ala4418Pro)
c.13249G>C (p.Ala4417Pro)
c.13231G>C (p.Ala4411Pro)
c.13207G>C (p.Ala4403Pro)
c.13204G>C (p.Ala4402Pro)
c.13201G>C (p.Ala4401Pro)
c.13153G>C (p.Ala4385Pro)
c.13141G>C (p.Ala4381Pro)
c.13003G>C (p.Ala4335Pro)
c.12850G>C (p.Ala4284Pro)
Xg.53534158C>TCA413145083HUWE1c.12655G>A (p.Ala4219Thr)
c.12871G>A (p.Ala4291Thr)
c.3338G>A
n.184G>A
c.12844G>A (p.Ala4282Thr)
c.13120G>A (p.Ala4374Thr)
c.13117G>A (p.Ala4373Thr)
c.13075G>A (p.Ala4359Thr)
c.13072G>A (p.Ala4358Thr)
c.13069G>A (p.Ala4357Thr)
c.13021G>A (p.Ala4341Thr)
c.12718G>A (p.Ala4240Thr)
c.13252G>A (p.Ala4418Thr)
c.13249G>A (p.Ala4417Thr)
c.13231G>A (p.Ala4411Thr)
c.13207G>A (p.Ala4403Thr)
c.13204G>A (p.Ala4402Thr)
c.13201G>A (p.Ala4401Thr)
c.13153G>A (p.Ala4385Thr)
c.13141G>A (p.Ala4381Thr)
c.13003G>A (p.Ala4335Thr)
c.12850G>A (p.Ala4284Thr)
Xg.53534159T>ACA413145104HUWE1c.12654A>T (p.Gln4218His)
c.12870A>T (p.Gln4290His)
c.3337A>T
n.183A>T
c.12843A>T (p.Gln4281His)
c.13119A>T (p.Gln4373His)
c.13116A>T (p.Gln4372His)
c.13074A>T (p.Gln4358His)
c.13071A>T (p.Gln4357His)
c.13068A>T (p.Gln4356His)
c.13020A>T (p.Gln4340His)
c.12717A>T (p.Gln4239His)
c.13251A>T (p.Gln4417His)
c.13248A>T (p.Gln4416His)
c.13230A>T (p.Gln4410His)
c.13206A>T (p.Gln4402His)
c.13203A>T (p.Gln4401His)
c.13200A>T (p.Gln4400His)
c.13152A>T (p.Gln4384His)
c.13140A>T (p.Gln4380His)
c.13002A>T (p.Gln4334His)
c.12849A>T (p.Gln4283His)
Xg.53534159T>CCA516419927HUWE1c.12654A>G (p.Gln4218=)
c.12870A>G (p.Gln4290=)
c.3337A>G
n.183A>G
c.12843A>G (p.Gln4281=)
c.13119A>G (p.Gln4373=)
c.13116A>G (p.Gln4372=)
c.13074A>G (p.Gln4358=)
c.13071A>G (p.Gln4357=)
c.13068A>G (p.Gln4356=)
c.13020A>G (p.Gln4340=)
c.12717A>G (p.Gln4239=)
c.13251A>G (p.Gln4417=)
c.13248A>G (p.Gln4416=)
c.13230A>G (p.Gln4410=)
c.13206A>G (p.Gln4402=)
c.13203A>G (p.Gln4401=)
c.13200A>G (p.Gln4400=)
c.13152A>G (p.Gln4384=)
c.13140A>G (p.Gln4380=)
c.13002A>G (p.Gln4334=)
c.12849A>G (p.Gln4283=)
Xg.53534159T>GCA413145106HUWE1c.12654A>C (p.Gln4218His)
c.12870A>C (p.Gln4290His)
c.3337A>C
n.183A>C
c.12843A>C (p.Gln4281His)
c.13119A>C (p.Gln4373His)
c.13116A>C (p.Gln4372His)
c.13074A>C (p.Gln4358His)
c.13071A>C (p.Gln4357His)
c.13068A>C (p.Gln4356His)
c.13020A>C (p.Gln4340His)
c.12717A>C (p.Gln4239His)
c.13251A>C (p.Gln4417His)
c.13248A>C (p.Gln4416His)
c.13230A>C (p.Gln4410His)
c.13206A>C (p.Gln4402His)
c.13203A>C (p.Gln4401His)
c.13200A>C (p.Gln4400His)
c.13152A>C (p.Gln4384His)
c.13140A>C (p.Gln4380His)
c.13002A>C (p.Gln4334His)
c.12849A>C (p.Gln4283His)
Xg.53534160T>ACA413145115HUWE1c.12653A>T (p.Gln4218Leu)
c.12869A>T (p.Gln4290Leu)
c.3336A>T
n.182A>T
c.12842A>T (p.Gln4281Leu)
c.13118A>T (p.Gln4373Leu)
c.13115A>T (p.Gln4372Leu)
c.13073A>T (p.Gln4358Leu)
c.13070A>T (p.Gln4357Leu)
c.13067A>T (p.Gln4356Leu)
c.13019A>T (p.Gln4340Leu)
c.12716A>T (p.Gln4239Leu)
c.13250A>T (p.Gln4417Leu)
c.13247A>T (p.Gln4416Leu)
c.13229A>T (p.Gln4410Leu)
c.13205A>T (p.Gln4402Leu)
c.13202A>T (p.Gln4401Leu)
c.13199A>T (p.Gln4400Leu)
c.13151A>T (p.Gln4384Leu)
c.13139A>T (p.Gln4380Leu)
c.13001A>T (p.Gln4334Leu)
c.12848A>T (p.Gln4283Leu)
Xg.53534160T>CCA413145119HUWE1c.12653A>G (p.Gln4218Arg)
c.12869A>G (p.Gln4290Arg)
c.3336A>G
n.182A>G
c.12842A>G (p.Gln4281Arg)
c.13118A>G (p.Gln4373Arg)
c.13115A>G (p.Gln4372Arg)
c.13073A>G (p.Gln4358Arg)
c.13070A>G (p.Gln4357Arg)
c.13067A>G (p.Gln4356Arg)
c.13019A>G (p.Gln4340Arg)
c.12716A>G (p.Gln4239Arg)
c.13250A>G (p.Gln4417Arg)
c.13247A>G (p.Gln4416Arg)
c.13229A>G (p.Gln4410Arg)
c.13205A>G (p.Gln4402Arg)
c.13202A>G (p.Gln4401Arg)
c.13199A>G (p.Gln4400Arg)
c.13151A>G (p.Gln4384Arg)
c.13139A>G (p.Gln4380Arg)
c.13001A>G (p.Gln4334Arg)
c.12848A>G (p.Gln4283Arg)
Xg.53534160T>GCA413145120HUWE1c.12653A>C (p.Gln4218Pro)
c.12869A>C (p.Gln4290Pro)
c.3336A>C
n.182A>C
c.12842A>C (p.Gln4281Pro)
c.13118A>C (p.Gln4373Pro)
c.13115A>C (p.Gln4372Pro)
c.13073A>C (p.Gln4358Pro)
c.13070A>C (p.Gln4357Pro)
c.13067A>C (p.Gln4356Pro)
c.13019A>C (p.Gln4340Pro)
c.12716A>C (p.Gln4239Pro)
c.13250A>C (p.Gln4417Pro)
c.13247A>C (p.Gln4416Pro)
c.13229A>C (p.Gln4410Pro)
c.13205A>C (p.Gln4402Pro)
c.13202A>C (p.Gln4401Pro)
c.13199A>C (p.Gln4400Pro)
c.13151A>C (p.Gln4384Pro)
c.13139A>C (p.Gln4380Pro)
c.13001A>C (p.Gln4334Pro)
c.12848A>C (p.Gln4283Pro)
 gnomAD v4
Xg.53534161G>ACA413145122HUWE1c.12652C>T (p.Gln4218Ter)
c.12868C>T (p.Gln4290Ter)
c.3335C>T
n.181C>T
c.12841C>T (p.Gln4281Ter)
c.13117C>T (p.Gln4373Ter)
c.13114C>T (p.Gln4372Ter)
c.13072C>T (p.Gln4358Ter)
c.13069C>T (p.Gln4357Ter)
c.13066C>T (p.Gln4356Ter)
c.13018C>T (p.Gln4340Ter)
c.12715C>T (p.Gln4239Ter)
c.13249C>T (p.Gln4417Ter)
c.13246C>T (p.Gln4416Ter)
c.13228C>T (p.Gln4410Ter)
c.13204C>T (p.Gln4402Ter)
c.13201C>T (p.Gln4401Ter)
c.13198C>T (p.Gln4400Ter)
c.13150C>T (p.Gln4384Ter)
c.13138C>T (p.Gln4380Ter)
c.13000C>T (p.Gln4334Ter)
c.12847C>T (p.Gln4283Ter)
Xg.53534161G>CCA413145137HUWE1c.12652C>G (p.Gln4218Glu)
c.12868C>G (p.Gln4290Glu)
c.3335C>G
n.181C>G
c.12841C>G (p.Gln4281Glu)
c.13117C>G (p.Gln4373Glu)
c.13114C>G (p.Gln4372Glu)
c.13072C>G (p.Gln4358Glu)
c.13069C>G (p.Gln4357Glu)
c.13066C>G (p.Gln4356Glu)
c.13018C>G (p.Gln4340Glu)
c.12715C>G (p.Gln4239Glu)
c.13249C>G (p.Gln4417Glu)
c.13246C>G (p.Gln4416Glu)
c.13228C>G (p.Gln4410Glu)
c.13204C>G (p.Gln4402Glu)
c.13201C>G (p.Gln4401Glu)
c.13198C>G (p.Gln4400Glu)
c.13150C>G (p.Gln4384Glu)
c.13138C>G (p.Gln4380Glu)
c.13000C>G (p.Gln4334Glu)
c.12847C>G (p.Gln4283Glu)
Xg.53534161G>TCA413145140HUWE1c.12652C>A (p.Gln4218Lys)
c.12868C>A (p.Gln4290Lys)
c.3335C>A
n.181C>A
c.12841C>A (p.Gln4281Lys)
c.13117C>A (p.Gln4373Lys)
c.13114C>A (p.Gln4372Lys)
c.13072C>A (p.Gln4358Lys)
c.13069C>A (p.Gln4357Lys)
c.13066C>A (p.Gln4356Lys)
c.13018C>A (p.Gln4340Lys)
c.12715C>A (p.Gln4239Lys)
c.13249C>A (p.Gln4417Lys)
c.13246C>A (p.Gln4416Lys)
c.13228C>A (p.Gln4410Lys)
c.13204C>A (p.Gln4402Lys)
c.13201C>A (p.Gln4401Lys)
c.13198C>A (p.Gln4400Lys)
c.13150C>A (p.Gln4384Lys)
c.13138C>A (p.Gln4380Lys)
c.13000C>A (p.Gln4334Lys)
c.12847C>A (p.Gln4283Lys)
Xg.53534162A=CA2429868921HUWE1c.12651T= (p.Asp4217=)
c.12867T= (p.Asp4289=)
c.3334T=
n.180T=
c.12840T= (p.Asp4280=)
c.13116T= (p.Asp4372=)
c.13113T= (p.Asp4371=)
c.13071T= (p.Asp4357=)
c.13068T= (p.Asp4356=)
c.13065T= (p.Asp4355=)
c.13017T= (p.Asp4339=)
c.12714T= (p.Asp4238=)
c.13248T= (p.Asp4416=)
c.13245T= (p.Asp4415=)
c.13227T= (p.Asp4409=)
c.13203T= (p.Asp4401=)
c.13200T= (p.Asp4400=)
c.13197T= (p.Asp4399=)
c.13149T= (p.Asp4383=)
c.13137T= (p.Asp4379=)
c.12999T= (p.Asp4333=)
c.12846T= (p.Asp4282=)
Xg.53534162A>CCA413145146HUWE1c.12651T>G (p.Asp4217Glu)
c.12867T>G (p.Asp4289Glu)
c.3334T>G
n.180T>G
c.12840T>G (p.Asp4280Glu)
c.13116T>G (p.Asp4372Glu)
c.13113T>G (p.Asp4371Glu)
c.13071T>G (p.Asp4357Glu)
c.13068T>G (p.Asp4356Glu)
c.13065T>G (p.Asp4355Glu)
c.13017T>G (p.Asp4339Glu)
c.12714T>G (p.Asp4238Glu)
c.13248T>G (p.Asp4416Glu)
c.13245T>G (p.Asp4415Glu)
c.13227T>G (p.Asp4409Glu)
c.13203T>G (p.Asp4401Glu)
c.13200T>G (p.Asp4400Glu)
c.13197T>G (p.Asp4399Glu)
c.13149T>G (p.Asp4383Glu)
c.13137T>G (p.Asp4379Glu)
c.12999T>G (p.Asp4333Glu)
c.12846T>G (p.Asp4282Glu)
Xg.53534162A>GCA516419937HUWE1c.12651T>C (p.Asp4217=)
c.12867T>C (p.Asp4289=)
c.3334T>C
n.180T>C
c.12840T>C (p.Asp4280=)
c.13116T>C (p.Asp4372=)
c.13113T>C (p.Asp4371=)
c.13071T>C (p.Asp4357=)
c.13068T>C (p.Asp4356=)
c.13065T>C (p.Asp4355=)
c.13017T>C (p.Asp4339=)
c.12714T>C (p.Asp4238=)
c.13248T>C (p.Asp4416=)
c.13245T>C (p.Asp4415=)
c.13227T>C (p.Asp4409=)
c.13203T>C (p.Asp4401=)
c.13200T>C (p.Asp4400=)
c.13197T>C (p.Asp4399=)
c.13149T>C (p.Asp4383=)
c.13137T>C (p.Asp4379=)
c.12999T>C (p.Asp4333=)
c.12846T>C (p.Asp4282=)
 dbSNP
Xg.53534162A>TCA413145156HUWE1c.12651T>A (p.Asp4217Glu)
c.12867T>A (p.Asp4289Glu)
c.3334T>A
n.180T>A
c.12840T>A (p.Asp4280Glu)
c.13116T>A (p.Asp4372Glu)
c.13113T>A (p.Asp4371Glu)
c.13071T>A (p.Asp4357Glu)
c.13068T>A (p.Asp4356Glu)
c.13065T>A (p.Asp4355Glu)
c.13017T>A (p.Asp4339Glu)
c.12714T>A (p.Asp4238Glu)
c.13248T>A (p.Asp4416Glu)
c.13245T>A (p.Asp4415Glu)
c.13227T>A (p.Asp4409Glu)
c.13203T>A (p.Asp4401Glu)
c.13200T>A (p.Asp4400Glu)
c.13197T>A (p.Asp4399Glu)
c.13149T>A (p.Asp4383Glu)
c.13137T>A (p.Asp4379Glu)
c.12999T>A (p.Asp4333Glu)
c.12846T>A (p.Asp4282Glu)
Xg.53534163T>ACA413145161HUWE1c.12650A>T (p.Asp4217Val)
c.12866A>T (p.Asp4289Val)
c.3333A>T
n.179A>T
c.12839A>T (p.Asp4280Val)
c.13115A>T (p.Asp4372Val)
c.13112A>T (p.Asp4371Val)
c.13070A>T (p.Asp4357Val)
c.13067A>T (p.Asp4356Val)
c.13064A>T (p.Asp4355Val)
c.13016A>T (p.Asp4339Val)
c.12713A>T (p.Asp4238Val)
c.13247A>T (p.Asp4416Val)
c.13244A>T (p.Asp4415Val)
c.13226A>T (p.Asp4409Val)
c.13202A>T (p.Asp4401Val)
c.13199A>T (p.Asp4400Val)
c.13196A>T (p.Asp4399Val)
c.13148A>T (p.Asp4383Val)
c.13136A>T (p.Asp4379Val)
c.12998A>T (p.Asp4333Val)
c.12845A>T (p.Asp4282Val)
Xg.53534163T>CCA413145164HUWE1c.12650A>G (p.Asp4217Gly)
c.12866A>G (p.Asp4289Gly)
c.3333A>G
n.179A>G
c.12839A>G (p.Asp4280Gly)
c.13115A>G (p.Asp4372Gly)
c.13112A>G (p.Asp4371Gly)
c.13070A>G (p.Asp4357Gly)
c.13067A>G (p.Asp4356Gly)
c.13064A>G (p.Asp4355Gly)
c.13016A>G (p.Asp4339Gly)
c.12713A>G (p.Asp4238Gly)
c.13247A>G (p.Asp4416Gly)
c.13244A>G (p.Asp4415Gly)
c.13226A>G (p.Asp4409Gly)
c.13202A>G (p.Asp4401Gly)
c.13199A>G (p.Asp4400Gly)
c.13196A>G (p.Asp4399Gly)
c.13148A>G (p.Asp4383Gly)
c.13136A>G (p.Asp4379Gly)
c.12998A>G (p.Asp4333Gly)
c.12845A>G (p.Asp4282Gly)
Xg.53534163T>GCA413145167HUWE1c.12650A>C (p.Asp4217Ala)
c.12866A>C (p.Asp4289Ala)
c.3333A>C
n.179A>C
c.12839A>C (p.Asp4280Ala)
c.13115A>C (p.Asp4372Ala)
c.13112A>C (p.Asp4371Ala)
c.13070A>C (p.Asp4357Ala)
c.13067A>C (p.Asp4356Ala)
c.13064A>C (p.Asp4355Ala)
c.13016A>C (p.Asp4339Ala)
c.12713A>C (p.Asp4238Ala)
c.13247A>C (p.Asp4416Ala)
c.13244A>C (p.Asp4415Ala)
c.13226A>C (p.Asp4409Ala)
c.13202A>C (p.Asp4401Ala)
c.13199A>C (p.Asp4400Ala)
c.13196A>C (p.Asp4399Ala)
c.13148A>C (p.Asp4383Ala)
c.13136A>C (p.Asp4379Ala)
c.12998A>C (p.Asp4333Ala)
c.12845A>C (p.Asp4282Ala)
Xg.53534164C>ACA413145180HUWE1c.12649G>T (p.Asp4217Tyr)
c.12865G>T (p.Asp4289Tyr)
c.3332G>T
n.178G>T
c.12838G>T (p.Asp4280Tyr)
c.13114G>T (p.Asp4372Tyr)
c.13111G>T (p.Asp4371Tyr)
c.13069G>T (p.Asp4357Tyr)
c.13066G>T (p.Asp4356Tyr)
c.13063G>T (p.Asp4355Tyr)
c.13015G>T (p.Asp4339Tyr)
c.12712G>T (p.Asp4238Tyr)
c.13246G>T (p.Asp4416Tyr)
c.13243G>T (p.Asp4415Tyr)
c.13225G>T (p.Asp4409Tyr)
c.13201G>T (p.Asp4401Tyr)
c.13198G>T (p.Asp4400Tyr)
c.13195G>T (p.Asp4399Tyr)
c.13147G>T (p.Asp4383Tyr)
c.13135G>T (p.Asp4379Tyr)
c.12997G>T (p.Asp4333Tyr)
c.12844G>T (p.Asp4282Tyr)
 gnomAD v4
Xg.53534164C=CA2429868922HUWE1c.12649G= (p.Asp4217=)
c.12865G= (p.Asp4289=)
c.3332G=
n.178G=
c.12838G= (p.Asp4280=)
c.13114G= (p.Asp4372=)
c.13111G= (p.Asp4371=)
c.13069G= (p.Asp4357=)
c.13066G= (p.Asp4356=)
c.13063G= (p.Asp4355=)
c.13015G= (p.Asp4339=)
c.12712G= (p.Asp4238=)
c.13246G= (p.Asp4416=)
c.13243G= (p.Asp4415=)
c.13225G= (p.Asp4409=)
c.13201G= (p.Asp4401=)
c.13198G= (p.Asp4400=)
c.13195G= (p.Asp4399=)
c.13147G= (p.Asp4383=)
c.13135G= (p.Asp4379=)
c.12997G= (p.Asp4333=)
c.12844G= (p.Asp4282=)
Xg.53534164C>GCA413145173HUWE1c.12649G>C (p.Asp4217His)
c.12865G>C (p.Asp4289His)
c.3332G>C
n.178G>C
c.12838G>C (p.Asp4280His)
c.13114G>C (p.Asp4372His)
c.13111G>C (p.Asp4371His)
c.13069G>C (p.Asp4357His)
c.13066G>C (p.Asp4356His)
c.13063G>C (p.Asp4355His)
c.13015G>C (p.Asp4339His)
c.12712G>C (p.Asp4238His)
c.13246G>C (p.Asp4416His)
c.13243G>C (p.Asp4415His)
c.13225G>C (p.Asp4409His)
c.13201G>C (p.Asp4401His)
c.13198G>C (p.Asp4400His)
c.13195G>C (p.Asp4399His)
c.13147G>C (p.Asp4383His)
c.13135G>C (p.Asp4379His)
c.12997G>C (p.Asp4333His)
c.12844G>C (p.Asp4282His)
 COSMIC COSMIC
Xg.53534164C>TCA413145169HUWE1c.12649G>A (p.Asp4217Asn)
c.12865G>A (p.Asp4289Asn)
c.3332G>A
n.178G>A
c.12838G>A (p.Asp4280Asn)
c.13114G>A (p.Asp4372Asn)
c.13111G>A (p.Asp4371Asn)
c.13069G>A (p.Asp4357Asn)
c.13066G>A (p.Asp4356Asn)
c.13063G>A (p.Asp4355Asn)
c.13015G>A (p.Asp4339Asn)
c.12712G>A (p.Asp4238Asn)
c.13246G>A (p.Asp4416Asn)
c.13243G>A (p.Asp4415Asn)
c.13225G>A (p.Asp4409Asn)
c.13201G>A (p.Asp4401Asn)
c.13198G>A (p.Asp4400Asn)
c.13195G>A (p.Asp4399Asn)
c.13147G>A (p.Asp4383Asn)
c.13135G>A (p.Asp4379Asn)
c.12997G>A (p.Asp4333Asn)
c.12844G>A (p.Asp4282Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53534165G>ACA516419950HUWE1c.12648C>T (p.Phe4216=)
c.12864C>T (p.Phe4288=)
c.3331C>T
n.177C>T
c.12837C>T (p.Phe4279=)
c.13113C>T (p.Phe4371=)
c.13110C>T (p.Phe4370=)
c.13068C>T (p.Phe4356=)
c.13065C>T (p.Phe4355=)
c.13062C>T (p.Phe4354=)
c.13014C>T (p.Phe4338=)
c.12711C>T (p.Phe4237=)
c.13245C>T (p.Phe4415=)
c.13242C>T (p.Phe4414=)
c.13224C>T (p.Phe4408=)
c.13200C>T (p.Phe4400=)
c.13197C>T (p.Phe4399=)
c.13194C>T (p.Phe4398=)
c.13146C>T (p.Phe4382=)
c.13134C>T (p.Phe4378=)
c.12996C>T (p.Phe4332=)
c.12843C>T (p.Phe4281=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534165G>CCA413145193HUWE1c.12648C>G (p.Phe4216Leu)
c.12864C>G (p.Phe4288Leu)
c.3331C>G
n.177C>G
c.12837C>G (p.Phe4279Leu)
c.13113C>G (p.Phe4371Leu)
c.13110C>G (p.Phe4370Leu)
c.13068C>G (p.Phe4356Leu)
c.13065C>G (p.Phe4355Leu)
c.13062C>G (p.Phe4354Leu)
c.13014C>G (p.Phe4338Leu)
c.12711C>G (p.Phe4237Leu)
c.13245C>G (p.Phe4415Leu)
c.13242C>G (p.Phe4414Leu)
c.13224C>G (p.Phe4408Leu)
c.13200C>G (p.Phe4400Leu)
c.13197C>G (p.Phe4399Leu)
c.13194C>G (p.Phe4398Leu)
c.13146C>G (p.Phe4382Leu)
c.13134C>G (p.Phe4378Leu)
c.12996C>G (p.Phe4332Leu)
c.12843C>G (p.Phe4281Leu)
Xg.53534165G=CA2429868923HUWE1c.12648C= (p.Phe4216=)
c.12864C= (p.Phe4288=)
c.3331C=
n.177C=
c.12837C= (p.Phe4279=)
c.13113C= (p.Phe4371=)
c.13110C= (p.Phe4370=)
c.13068C= (p.Phe4356=)
c.13065C= (p.Phe4355=)
c.13062C= (p.Phe4354=)
c.13014C= (p.Phe4338=)
c.12711C= (p.Phe4237=)
c.13245C= (p.Phe4415=)
c.13242C= (p.Phe4414=)
c.13224C= (p.Phe4408=)
c.13200C= (p.Phe4400=)
c.13197C= (p.Phe4399=)
c.13194C= (p.Phe4398=)
c.13146C= (p.Phe4382=)
c.13134C= (p.Phe4378=)
c.12996C= (p.Phe4332=)
c.12843C= (p.Phe4281=)
Xg.53534165G>TCA413145198HUWE1c.12648C>A (p.Phe4216Leu)
c.12864C>A (p.Phe4288Leu)
c.3331C>A
n.177C>A
c.12837C>A (p.Phe4279Leu)
c.13113C>A (p.Phe4371Leu)
c.13110C>A (p.Phe4370Leu)
c.13068C>A (p.Phe4356Leu)
c.13065C>A (p.Phe4355Leu)
c.13062C>A (p.Phe4354Leu)
c.13014C>A (p.Phe4338Leu)
c.12711C>A (p.Phe4237Leu)
c.13245C>A (p.Phe4415Leu)
c.13242C>A (p.Phe4414Leu)
c.13224C>A (p.Phe4408Leu)
c.13200C>A (p.Phe4400Leu)
c.13197C>A (p.Phe4399Leu)
c.13194C>A (p.Phe4398Leu)
c.13146C>A (p.Phe4382Leu)
c.13134C>A (p.Phe4378Leu)
c.12996C>A (p.Phe4332Leu)
c.12843C>A (p.Phe4281Leu)
Xg.53534166A>CCA413145205HUWE1c.12647T>G (p.Phe4216Cys)
c.12863T>G (p.Phe4288Cys)
c.3330T>G
n.176T>G
c.12836T>G (p.Phe4279Cys)
c.13112T>G (p.Phe4371Cys)
c.13109T>G (p.Phe4370Cys)
c.13067T>G (p.Phe4356Cys)
c.13064T>G (p.Phe4355Cys)
c.13061T>G (p.Phe4354Cys)
c.13013T>G (p.Phe4338Cys)
c.12710T>G (p.Phe4237Cys)
c.13244T>G (p.Phe4415Cys)
c.13241T>G (p.Phe4414Cys)
c.13223T>G (p.Phe4408Cys)
c.13199T>G (p.Phe4400Cys)
c.13196T>G (p.Phe4399Cys)
c.13193T>G (p.Phe4398Cys)
c.13145T>G (p.Phe4382Cys)
c.13133T>G (p.Phe4378Cys)
c.12995T>G (p.Phe4332Cys)
c.12842T>G (p.Phe4281Cys)
Xg.53534166A>GCA413145214HUWE1c.12647T>C (p.Phe4216Ser)
c.12863T>C (p.Phe4288Ser)
c.3330T>C
n.176T>C
c.12836T>C (p.Phe4279Ser)
c.13112T>C (p.Phe4371Ser)
c.13109T>C (p.Phe4370Ser)
c.13067T>C (p.Phe4356Ser)
c.13064T>C (p.Phe4355Ser)
c.13061T>C (p.Phe4354Ser)
c.13013T>C (p.Phe4338Ser)
c.12710T>C (p.Phe4237Ser)
c.13244T>C (p.Phe4415Ser)
c.13241T>C (p.Phe4414Ser)
c.13223T>C (p.Phe4408Ser)
c.13199T>C (p.Phe4400Ser)
c.13196T>C (p.Phe4399Ser)
c.13193T>C (p.Phe4398Ser)
c.13145T>C (p.Phe4382Ser)
c.13133T>C (p.Phe4378Ser)
c.12995T>C (p.Phe4332Ser)
c.12842T>C (p.Phe4281Ser)
Xg.53534166A>TCA413145216HUWE1c.12647T>A (p.Phe4216Tyr)
c.12863T>A (p.Phe4288Tyr)
c.3330T>A
n.176T>A
c.12836T>A (p.Phe4279Tyr)
c.13112T>A (p.Phe4371Tyr)
c.13109T>A (p.Phe4370Tyr)
c.13067T>A (p.Phe4356Tyr)
c.13064T>A (p.Phe4355Tyr)
c.13061T>A (p.Phe4354Tyr)
c.13013T>A (p.Phe4338Tyr)
c.12710T>A (p.Phe4237Tyr)
c.13244T>A (p.Phe4415Tyr)
c.13241T>A (p.Phe4414Tyr)
c.13223T>A (p.Phe4408Tyr)
c.13199T>A (p.Phe4400Tyr)
c.13196T>A (p.Phe4399Tyr)
c.13193T>A (p.Phe4398Tyr)
c.13145T>A (p.Phe4382Tyr)
c.13133T>A (p.Phe4378Tyr)
c.12995T>A (p.Phe4332Tyr)
c.12842T>A (p.Phe4281Tyr)
Xg.53534167A>CCA413145241HUWE1c.12646T>G (p.Phe4216Val)
c.12862T>G (p.Phe4288Val)
c.3329T>G
n.175T>G
c.12835T>G (p.Phe4279Val)
c.13111T>G (p.Phe4371Val)
c.13108T>G (p.Phe4370Val)
c.13066T>G (p.Phe4356Val)
c.13063T>G (p.Phe4355Val)
c.13060T>G (p.Phe4354Val)
c.13012T>G (p.Phe4338Val)
c.12709T>G (p.Phe4237Val)
c.13243T>G (p.Phe4415Val)
c.13240T>G (p.Phe4414Val)
c.13222T>G (p.Phe4408Val)
c.13198T>G (p.Phe4400Val)
c.13195T>G (p.Phe4399Val)
c.13192T>G (p.Phe4398Val)
c.13144T>G (p.Phe4382Val)
c.13132T>G (p.Phe4378Val)
c.12994T>G (p.Phe4332Val)
c.12841T>G (p.Phe4281Val)
Xg.53534167A>GCA413145246HUWE1c.12646T>C (p.Phe4216Leu)
c.12862T>C (p.Phe4288Leu)
c.3329T>C
n.175T>C
c.12835T>C (p.Phe4279Leu)
c.13111T>C (p.Phe4371Leu)
c.13108T>C (p.Phe4370Leu)
c.13066T>C (p.Phe4356Leu)
c.13063T>C (p.Phe4355Leu)
c.13060T>C (p.Phe4354Leu)
c.13012T>C (p.Phe4338Leu)
c.12709T>C (p.Phe4237Leu)
c.13243T>C (p.Phe4415Leu)
c.13240T>C (p.Phe4414Leu)
c.13222T>C (p.Phe4408Leu)
c.13198T>C (p.Phe4400Leu)
c.13195T>C (p.Phe4399Leu)
c.13192T>C (p.Phe4398Leu)
c.13144T>C (p.Phe4382Leu)
c.13132T>C (p.Phe4378Leu)
c.12994T>C (p.Phe4332Leu)
c.12841T>C (p.Phe4281Leu)
Xg.53534167A>TCA413145248HUWE1c.12646T>A (p.Phe4216Ile)
c.12862T>A (p.Phe4288Ile)
c.3329T>A
n.175T>A
c.12835T>A (p.Phe4279Ile)
c.13111T>A (p.Phe4371Ile)
c.13108T>A (p.Phe4370Ile)
c.13066T>A (p.Phe4356Ile)
c.13063T>A (p.Phe4355Ile)
c.13060T>A (p.Phe4354Ile)
c.13012T>A (p.Phe4338Ile)
c.12709T>A (p.Phe4237Ile)
c.13243T>A (p.Phe4415Ile)
c.13240T>A (p.Phe4414Ile)
c.13222T>A (p.Phe4408Ile)
c.13198T>A (p.Phe4400Ile)
c.13195T>A (p.Phe4399Ile)
c.13192T>A (p.Phe4398Ile)
c.13144T>A (p.Phe4382Ile)
c.13132T>A (p.Phe4378Ile)
c.12994T>A (p.Phe4332Ile)
c.12841T>A (p.Phe4281Ile)
Xg.53534168A=CA2429868924HUWE1c.12645T= (p.Ser4215=)
c.12861T= (p.Ser4287=)
c.3328T=
n.174T=
c.12834T= (p.Ser4278=)
c.13110T= (p.Ser4370=)
c.13107T= (p.Ser4369=)
c.13065T= (p.Ser4355=)
c.13062T= (p.Ser4354=)
c.13059T= (p.Ser4353=)
c.13011T= (p.Ser4337=)
c.12708T= (p.Ser4236=)
c.13242T= (p.Ser4414=)
c.13239T= (p.Ser4413=)
c.13221T= (p.Ser4407=)
c.13197T= (p.Ser4399=)
c.13194T= (p.Ser4398=)
c.13191T= (p.Ser4397=)
c.13143T= (p.Ser4381=)
c.13131T= (p.Ser4377=)
c.12993T= (p.Ser4331=)
c.12840T= (p.Ser4280=)
Xg.53534168A>CCA516419969HUWE1c.12645T>G (p.Ser4215=)
c.12861T>G (p.Ser4287=)
c.3328T>G
n.174T>G
c.12834T>G (p.Ser4278=)
c.13110T>G (p.Ser4370=)
c.13107T>G (p.Ser4369=)
c.13065T>G (p.Ser4355=)
c.13062T>G (p.Ser4354=)
c.13059T>G (p.Ser4353=)
c.13011T>G (p.Ser4337=)
c.12708T>G (p.Ser4236=)
c.13242T>G (p.Ser4414=)
c.13239T>G (p.Ser4413=)
c.13221T>G (p.Ser4407=)
c.13197T>G (p.Ser4399=)
c.13194T>G (p.Ser4398=)
c.13191T>G (p.Ser4397=)
c.13143T>G (p.Ser4381=)
c.13131T>G (p.Ser4377=)
c.12993T>G (p.Ser4331=)
c.12840T>G (p.Ser4280=)
Xg.53534168A>GCA516419971HUWE1c.12645T>C (p.Ser4215=)
c.12861T>C (p.Ser4287=)
c.3328T>C
n.174T>C
c.12834T>C (p.Ser4278=)
c.13110T>C (p.Ser4370=)
c.13107T>C (p.Ser4369=)
c.13065T>C (p.Ser4355=)
c.13062T>C (p.Ser4354=)
c.13059T>C (p.Ser4353=)
c.13011T>C (p.Ser4337=)
c.12708T>C (p.Ser4236=)
c.13242T>C (p.Ser4414=)
c.13239T>C (p.Ser4413=)
c.13221T>C (p.Ser4407=)
c.13197T>C (p.Ser4399=)
c.13194T>C (p.Ser4398=)
c.13191T>C (p.Ser4397=)
c.13143T>C (p.Ser4381=)
c.13131T>C (p.Ser4377=)
c.12993T>C (p.Ser4331=)
c.12840T>C (p.Ser4280=)
 dbSNP gnomAD v4
Xg.53534168A>TCA516419973HUWE1c.12645T>A (p.Ser4215=)
c.12861T>A (p.Ser4287=)
c.3328T>A
n.174T>A
c.12834T>A (p.Ser4278=)
c.13110T>A (p.Ser4370=)
c.13107T>A (p.Ser4369=)
c.13065T>A (p.Ser4355=)
c.13062T>A (p.Ser4354=)
c.13059T>A (p.Ser4353=)
c.13011T>A (p.Ser4337=)
c.12708T>A (p.Ser4236=)
c.13242T>A (p.Ser4414=)
c.13239T>A (p.Ser4413=)
c.13221T>A (p.Ser4407=)
c.13197T>A (p.Ser4399=)
c.13194T>A (p.Ser4398=)
c.13191T>A (p.Ser4397=)
c.13143T>A (p.Ser4381=)
c.13131T>A (p.Ser4377=)
c.12993T>A (p.Ser4331=)
c.12840T>A (p.Ser4280=)
Xg.53534169G>ACA16621450HUWE1c.12644C>T (p.Ser4215Phe)
c.12860C>T (p.Ser4287Phe)
c.3327C>T
n.173C>T
c.12833C>T (p.Ser4278Phe)
c.13109C>T (p.Ser4370Phe)
c.13106C>T (p.Ser4369Phe)
c.13064C>T (p.Ser4355Phe)
c.13061C>T (p.Ser4354Phe)
c.13058C>T (p.Ser4353Phe)
c.13010C>T (p.Ser4337Phe)
c.12707C>T (p.Ser4236Phe)
c.13241C>T (p.Ser4414Phe)
c.13238C>T (p.Ser4413Phe)
c.13220C>T (p.Ser4407Phe)
c.13196C>T (p.Ser4399Phe)
c.13193C>T (p.Ser4398Phe)
c.13190C>T (p.Ser4397Phe)
c.13142C>T (p.Ser4381Phe)
c.13130C>T (p.Ser4377Phe)
c.12992C>T (p.Ser4331Phe)
c.12839C>T (p.Ser4280Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53534169G>CCA413145255HUWE1c.12644C>G (p.Ser4215Cys)
c.12860C>G (p.Ser4287Cys)
c.3327C>G
n.173C>G
c.12833C>G (p.Ser4278Cys)
c.13109C>G (p.Ser4370Cys)
c.13106C>G (p.Ser4369Cys)
c.13064C>G (p.Ser4355Cys)
c.13061C>G (p.Ser4354Cys)
c.13058C>G (p.Ser4353Cys)
c.13010C>G (p.Ser4337Cys)
c.12707C>G (p.Ser4236Cys)
c.13241C>G (p.Ser4414Cys)
c.13238C>G (p.Ser4413Cys)
c.13220C>G (p.Ser4407Cys)
c.13196C>G (p.Ser4399Cys)
c.13193C>G (p.Ser4398Cys)
c.13190C>G (p.Ser4397Cys)
c.13142C>G (p.Ser4381Cys)
c.13130C>G (p.Ser4377Cys)
c.12992C>G (p.Ser4331Cys)
c.12839C>G (p.Ser4280Cys)
Xg.53534169G=CA2429868925HUWE1c.12644C= (p.Ser4215=)
c.12860C= (p.Ser4287=)
c.3327C=
n.173C=
c.12833C= (p.Ser4278=)
c.13109C= (p.Ser4370=)
c.13106C= (p.Ser4369=)
c.13064C= (p.Ser4355=)
c.13061C= (p.Ser4354=)
c.13058C= (p.Ser4353=)
c.13010C= (p.Ser4337=)
c.12707C= (p.Ser4236=)
c.13241C= (p.Ser4414=)
c.13238C= (p.Ser4413=)
c.13220C= (p.Ser4407=)
c.13196C= (p.Ser4399=)
c.13193C= (p.Ser4398=)
c.13190C= (p.Ser4397=)
c.13142C= (p.Ser4381=)
c.13130C= (p.Ser4377=)
c.12992C= (p.Ser4331=)
c.12839C= (p.Ser4280=)
Xg.53534169G>TCA413145258HUWE1c.12644C>A (p.Ser4215Tyr)
c.12860C>A (p.Ser4287Tyr)
c.3327C>A
n.173C>A
c.12833C>A (p.Ser4278Tyr)
c.13109C>A (p.Ser4370Tyr)
c.13106C>A (p.Ser4369Tyr)
c.13064C>A (p.Ser4355Tyr)
c.13061C>A (p.Ser4354Tyr)
c.13058C>A (p.Ser4353Tyr)
c.13010C>A (p.Ser4337Tyr)
c.12707C>A (p.Ser4236Tyr)
c.13241C>A (p.Ser4414Tyr)
c.13238C>A (p.Ser4413Tyr)
c.13220C>A (p.Ser4407Tyr)
c.13196C>A (p.Ser4399Tyr)
c.13193C>A (p.Ser4398Tyr)
c.13190C>A (p.Ser4397Tyr)
c.13142C>A (p.Ser4381Tyr)
c.13130C>A (p.Ser4377Tyr)
c.12992C>A (p.Ser4331Tyr)
c.12839C>A (p.Ser4280Tyr)
 COSMIC COSMIC
Xg.53534170A>CCA413145268HUWE1c.12643T>G (p.Ser4215Ala)
c.12859T>G (p.Ser4287Ala)
c.3326T>G
n.172T>G
c.12832T>G (p.Ser4278Ala)
c.13108T>G (p.Ser4370Ala)
c.13105T>G (p.Ser4369Ala)
c.13063T>G (p.Ser4355Ala)
c.13060T>G (p.Ser4354Ala)
c.13057T>G (p.Ser4353Ala)
c.13009T>G (p.Ser4337Ala)
c.12706T>G (p.Ser4236Ala)
c.13240T>G (p.Ser4414Ala)
c.13237T>G (p.Ser4413Ala)
c.13219T>G (p.Ser4407Ala)
c.13195T>G (p.Ser4399Ala)
c.13192T>G (p.Ser4398Ala)
c.13189T>G (p.Ser4397Ala)
c.13141T>G (p.Ser4381Ala)
c.13129T>G (p.Ser4377Ala)
c.12991T>G (p.Ser4331Ala)
c.12838T>G (p.Ser4280Ala)
Xg.53534170A>GCA413145269HUWE1c.12643T>C (p.Ser4215Pro)
c.12859T>C (p.Ser4287Pro)
c.3326T>C
n.172T>C
c.12832T>C (p.Ser4278Pro)
c.13108T>C (p.Ser4370Pro)
c.13105T>C (p.Ser4369Pro)
c.13063T>C (p.Ser4355Pro)
c.13060T>C (p.Ser4354Pro)
c.13057T>C (p.Ser4353Pro)
c.13009T>C (p.Ser4337Pro)
c.12706T>C (p.Ser4236Pro)
c.13240T>C (p.Ser4414Pro)
c.13237T>C (p.Ser4413Pro)
c.13219T>C (p.Ser4407Pro)
c.13195T>C (p.Ser4399Pro)
c.13192T>C (p.Ser4398Pro)
c.13189T>C (p.Ser4397Pro)
c.13141T>C (p.Ser4381Pro)
c.13129T>C (p.Ser4377Pro)
c.12991T>C (p.Ser4331Pro)
c.12838T>C (p.Ser4280Pro)
Xg.53534170A>TCA413145274HUWE1c.12643T>A (p.Ser4215Thr)
c.12859T>A (p.Ser4287Thr)
c.3326T>A
n.172T>A
c.12832T>A (p.Ser4278Thr)
c.13108T>A (p.Ser4370Thr)
c.13105T>A (p.Ser4369Thr)
c.13063T>A (p.Ser4355Thr)
c.13060T>A (p.Ser4354Thr)
c.13057T>A (p.Ser4353Thr)
c.13009T>A (p.Ser4337Thr)
c.12706T>A (p.Ser4236Thr)
c.13240T>A (p.Ser4414Thr)
c.13237T>A (p.Ser4413Thr)
c.13219T>A (p.Ser4407Thr)
c.13195T>A (p.Ser4399Thr)
c.13192T>A (p.Ser4398Thr)
c.13189T>A (p.Ser4397Thr)
c.13141T>A (p.Ser4381Thr)
c.13129T>A (p.Ser4377Thr)
c.12991T>A (p.Ser4331Thr)
c.12838T>A (p.Ser4280Thr)
Xg.53534171A>CCA516419982HUWE1c.12642T>G (p.Arg4214=)
c.12858T>G (p.Arg4286=)
c.3325T>G
n.171T>G
c.12831T>G (p.Arg4277=)
c.13107T>G (p.Arg4369=)
c.13104T>G (p.Arg4368=)
c.13062T>G (p.Arg4354=)
c.13059T>G (p.Arg4353=)
c.13056T>G (p.Arg4352=)
c.13008T>G (p.Arg4336=)
c.12705T>G (p.Arg4235=)
c.13239T>G (p.Arg4413=)
c.13236T>G (p.Arg4412=)
c.13218T>G (p.Arg4406=)
c.13194T>G (p.Arg4398=)
c.13191T>G (p.Arg4397=)
c.13188T>G (p.Arg4396=)
c.13140T>G (p.Arg4380=)
c.13128T>G (p.Arg4376=)
c.12990T>G (p.Arg4330=)
c.12837T>G (p.Arg4279=)
Xg.53534171A>GCA516419984HUWE1c.12642T>C (p.Arg4214=)
c.12858T>C (p.Arg4286=)
c.3325T>C
n.171T>C
c.12831T>C (p.Arg4277=)
c.13107T>C (p.Arg4369=)
c.13104T>C (p.Arg4368=)
c.13062T>C (p.Arg4354=)
c.13059T>C (p.Arg4353=)
c.13056T>C (p.Arg4352=)
c.13008T>C (p.Arg4336=)
c.12705T>C (p.Arg4235=)
c.13239T>C (p.Arg4413=)
c.13236T>C (p.Arg4412=)
c.13218T>C (p.Arg4406=)
c.13194T>C (p.Arg4398=)
c.13191T>C (p.Arg4397=)
c.13188T>C (p.Arg4396=)
c.13140T>C (p.Arg4380=)
c.13128T>C (p.Arg4376=)
c.12990T>C (p.Arg4330=)
c.12837T>C (p.Arg4279=)
Xg.53534171A>TCA516419986HUWE1c.12642T>A (p.Arg4214=)
c.12858T>A (p.Arg4286=)
c.3325T>A
n.171T>A
c.12831T>A (p.Arg4277=)
c.13107T>A (p.Arg4369=)
c.13104T>A (p.Arg4368=)
c.13062T>A (p.Arg4354=)
c.13059T>A (p.Arg4353=)
c.13056T>A (p.Arg4352=)
c.13008T>A (p.Arg4336=)
c.12705T>A (p.Arg4235=)
c.13239T>A (p.Arg4413=)
c.13236T>A (p.Arg4412=)
c.13218T>A (p.Arg4406=)
c.13194T>A (p.Arg4398=)
c.13191T>A (p.Arg4397=)
c.13188T>A (p.Arg4396=)
c.13140T>A (p.Arg4380=)
c.13128T>A (p.Arg4376=)
c.12990T>A (p.Arg4330=)
c.12837T>A (p.Arg4279=)
Xg.53534172C>ACA413145283HUWE1c.12641G>T (p.Arg4214Leu)
c.12857G>T (p.Arg4286Leu)
c.3324G>T
n.170G>T
c.12830G>T (p.Arg4277Leu)
c.13106G>T (p.Arg4369Leu)
c.13103G>T (p.Arg4368Leu)
c.13061G>T (p.Arg4354Leu)
c.13058G>T (p.Arg4353Leu)
c.13055G>T (p.Arg4352Leu)
c.13007G>T (p.Arg4336Leu)
c.12704G>T (p.Arg4235Leu)
c.13238G>T (p.Arg4413Leu)
c.13235G>T (p.Arg4412Leu)
c.13217G>T (p.Arg4406Leu)
c.13193G>T (p.Arg4398Leu)
c.13190G>T (p.Arg4397Leu)
c.13187G>T (p.Arg4396Leu)
c.13139G>T (p.Arg4380Leu)
c.13127G>T (p.Arg4376Leu)
c.12989G>T (p.Arg4330Leu)
c.12836G>T (p.Arg4279Leu)
Xg.53534172C=CA2429868926HUWE1c.12641G= (p.Arg4214=)
c.12857G= (p.Arg4286=)
c.3324G=
n.170G=
c.12830G= (p.Arg4277=)
c.13106G= (p.Arg4369=)
c.13103G= (p.Arg4368=)
c.13061G= (p.Arg4354=)
c.13058G= (p.Arg4353=)
c.13055G= (p.Arg4352=)
c.13007G= (p.Arg4336=)
c.12704G= (p.Arg4235=)
c.13238G= (p.Arg4413=)
c.13235G= (p.Arg4412=)
c.13217G= (p.Arg4406=)
c.13193G= (p.Arg4398=)
c.13190G= (p.Arg4397=)
c.13187G= (p.Arg4396=)
c.13139G= (p.Arg4380=)
c.13127G= (p.Arg4376=)
c.12989G= (p.Arg4330=)
c.12836G= (p.Arg4279=)
Xg.53534172C>GCA413145287HUWE1c.12641G>C (p.Arg4214Pro)
c.12857G>C (p.Arg4286Pro)
c.3324G>C
n.170G>C
c.12830G>C (p.Arg4277Pro)
c.13106G>C (p.Arg4369Pro)
c.13103G>C (p.Arg4368Pro)
c.13061G>C (p.Arg4354Pro)
c.13058G>C (p.Arg4353Pro)
c.13055G>C (p.Arg4352Pro)
c.13007G>C (p.Arg4336Pro)
c.12704G>C (p.Arg4235Pro)
c.13238G>C (p.Arg4413Pro)
c.13235G>C (p.Arg4412Pro)
c.13217G>C (p.Arg4406Pro)
c.13193G>C (p.Arg4398Pro)
c.13190G>C (p.Arg4397Pro)
c.13187G>C (p.Arg4396Pro)
c.13139G>C (p.Arg4380Pro)
c.13127G>C (p.Arg4376Pro)
c.12989G>C (p.Arg4330Pro)
c.12836G>C (p.Arg4279Pro)
Xg.53534172C>TCA10421119HUWE1c.12641G>A (p.Arg4214His)
c.12857G>A (p.Arg4286His)
c.3324G>A
n.170G>A
c.12830G>A (p.Arg4277His)
c.13106G>A (p.Arg4369His)
c.13103G>A (p.Arg4368His)
c.13061G>A (p.Arg4354His)
c.13058G>A (p.Arg4353His)
c.13055G>A (p.Arg4352His)
c.13007G>A (p.Arg4336His)
c.12704G>A (p.Arg4235His)
c.13238G>A (p.Arg4413His)
c.13235G>A (p.Arg4412His)
c.13217G>A (p.Arg4406His)
c.13193G>A (p.Arg4398His)
c.13190G>A (p.Arg4397His)
c.13187G>A (p.Arg4396His)
c.13139G>A (p.Arg4380His)
c.13127G>A (p.Arg4376His)
c.12989G>A (p.Arg4330His)
c.12836G>A (p.Arg4279His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534173G>ACA413145295HUWE1c.12640C>T (p.Arg4214Cys)
c.12856C>T (p.Arg4286Cys)
c.3323C>T
n.169C>T
c.12829C>T (p.Arg4277Cys)
c.13105C>T (p.Arg4369Cys)
c.13102C>T (p.Arg4368Cys)
c.13060C>T (p.Arg4354Cys)
c.13057C>T (p.Arg4353Cys)
c.13054C>T (p.Arg4352Cys)
c.13006C>T (p.Arg4336Cys)
c.12703C>T (p.Arg4235Cys)
c.13237C>T (p.Arg4413Cys)
c.13234C>T (p.Arg4412Cys)
c.13216C>T (p.Arg4406Cys)
c.13192C>T (p.Arg4398Cys)
c.13189C>T (p.Arg4397Cys)
c.13186C>T (p.Arg4396Cys)
c.13138C>T (p.Arg4380Cys)
c.13126C>T (p.Arg4376Cys)
c.12988C>T (p.Arg4330Cys)
c.12835C>T (p.Arg4279Cys)
 ClinVar COSMIC COSMIC
Xg.53534173G>CCA413145299HUWE1c.12640C>G (p.Arg4214Gly)
c.12856C>G (p.Arg4286Gly)
c.3323C>G
n.169C>G
c.12829C>G (p.Arg4277Gly)
c.13105C>G (p.Arg4369Gly)
c.13102C>G (p.Arg4368Gly)
c.13060C>G (p.Arg4354Gly)
c.13057C>G (p.Arg4353Gly)
c.13054C>G (p.Arg4352Gly)
c.13006C>G (p.Arg4336Gly)
c.12703C>G (p.Arg4235Gly)
c.13237C>G (p.Arg4413Gly)
c.13234C>G (p.Arg4412Gly)
c.13216C>G (p.Arg4406Gly)
c.13192C>G (p.Arg4398Gly)
c.13189C>G (p.Arg4397Gly)
c.13186C>G (p.Arg4396Gly)
c.13138C>G (p.Arg4380Gly)
c.13126C>G (p.Arg4376Gly)
c.12988C>G (p.Arg4330Gly)
c.12835C>G (p.Arg4279Gly)
Xg.53534173G>TCA413145303HUWE1c.12640C>A (p.Arg4214Ser)
c.12856C>A (p.Arg4286Ser)
c.3323C>A
n.169C>A
c.12829C>A (p.Arg4277Ser)
c.13105C>A (p.Arg4369Ser)
c.13102C>A (p.Arg4368Ser)
c.13060C>A (p.Arg4354Ser)
c.13057C>A (p.Arg4353Ser)
c.13054C>A (p.Arg4352Ser)
c.13006C>A (p.Arg4336Ser)
c.12703C>A (p.Arg4235Ser)
c.13237C>A (p.Arg4413Ser)
c.13234C>A (p.Arg4412Ser)
c.13216C>A (p.Arg4406Ser)
c.13192C>A (p.Arg4398Ser)
c.13189C>A (p.Arg4397Ser)
c.13186C>A (p.Arg4396Ser)
c.13138C>A (p.Arg4380Ser)
c.13126C>A (p.Arg4376Ser)
c.12988C>A (p.Arg4330Ser)
c.12835C>A (p.Arg4279Ser)
Xg.53534174C>ACA413145317HUWE1c.12639G>T (p.Leu4213Phe)
c.12855G>T (p.Leu4285Phe)
c.3322G>T
n.168G>T
c.12828G>T (p.Leu4276Phe)
c.13104G>T (p.Leu4368Phe)
c.13101G>T (p.Leu4367Phe)
c.13059G>T (p.Leu4353Phe)
c.13056G>T (p.Leu4352Phe)
c.13053G>T (p.Leu4351Phe)
c.13005G>T (p.Leu4335Phe)
c.12702G>T (p.Leu4234Phe)
c.13236G>T (p.Leu4412Phe)
c.13233G>T (p.Leu4411Phe)
c.13215G>T (p.Leu4405Phe)
c.13191G>T (p.Leu4397Phe)
c.13188G>T (p.Leu4396Phe)
c.13185G>T (p.Leu4395Phe)
c.13137G>T (p.Leu4379Phe)
c.13125G>T (p.Leu4375Phe)
c.12987G>T (p.Leu4329Phe)
c.12834G>T (p.Leu4278Phe)
Xg.53534174C>GCA413145322HUWE1c.12639G>C (p.Leu4213Phe)
c.12855G>C (p.Leu4285Phe)
c.3322G>C
n.168G>C
c.12828G>C (p.Leu4276Phe)
c.13104G>C (p.Leu4368Phe)
c.13101G>C (p.Leu4367Phe)
c.13059G>C (p.Leu4353Phe)
c.13056G>C (p.Leu4352Phe)
c.13053G>C (p.Leu4351Phe)
c.13005G>C (p.Leu4335Phe)
c.12702G>C (p.Leu4234Phe)
c.13236G>C (p.Leu4412Phe)
c.13233G>C (p.Leu4411Phe)
c.13215G>C (p.Leu4405Phe)
c.13191G>C (p.Leu4397Phe)
c.13188G>C (p.Leu4396Phe)
c.13185G>C (p.Leu4395Phe)
c.13137G>C (p.Leu4379Phe)
c.13125G>C (p.Leu4375Phe)
c.12987G>C (p.Leu4329Phe)
c.12834G>C (p.Leu4278Phe)
Xg.53534174C>TCA516419998HUWE1c.12639G>A (p.Leu4213=)
c.12855G>A (p.Leu4285=)
c.3322G>A
n.168G>A
c.12828G>A (p.Leu4276=)
c.13104G>A (p.Leu4368=)
c.13101G>A (p.Leu4367=)
c.13059G>A (p.Leu4353=)
c.13056G>A (p.Leu4352=)
c.13053G>A (p.Leu4351=)
c.13005G>A (p.Leu4335=)
c.12702G>A (p.Leu4234=)
c.13236G>A (p.Leu4412=)
c.13233G>A (p.Leu4411=)
c.13215G>A (p.Leu4405=)
c.13191G>A (p.Leu4397=)
c.13188G>A (p.Leu4396=)
c.13185G>A (p.Leu4395=)
c.13137G>A (p.Leu4379=)
c.13125G>A (p.Leu4375=)
c.12987G>A (p.Leu4329=)
c.12834G>A (p.Leu4278=)
Xg.53534175A>CCA413145328HUWE1c.12638T>G (p.Leu4213Trp)
c.12854T>G (p.Leu4285Trp)
c.3321T>G
n.167T>G
c.12827T>G (p.Leu4276Trp)
c.13103T>G (p.Leu4368Trp)
c.13100T>G (p.Leu4367Trp)
c.13058T>G (p.Leu4353Trp)
c.13055T>G (p.Leu4352Trp)
c.13052T>G (p.Leu4351Trp)
c.13004T>G (p.Leu4335Trp)
c.12701T>G (p.Leu4234Trp)
c.13235T>G (p.Leu4412Trp)
c.13232T>G (p.Leu4411Trp)
c.13214T>G (p.Leu4405Trp)
c.13190T>G (p.Leu4397Trp)
c.13187T>G (p.Leu4396Trp)
c.13184T>G (p.Leu4395Trp)
c.13136T>G (p.Leu4379Trp)
c.13124T>G (p.Leu4375Trp)
c.12986T>G (p.Leu4329Trp)
c.12833T>G (p.Leu4278Trp)
Xg.53534175A>GCA413145336HUWE1c.12638T>C (p.Leu4213Ser)
c.12854T>C (p.Leu4285Ser)
c.3321T>C
n.167T>C
c.12827T>C (p.Leu4276Ser)
c.13103T>C (p.Leu4368Ser)
c.13100T>C (p.Leu4367Ser)
c.13058T>C (p.Leu4353Ser)
c.13055T>C (p.Leu4352Ser)
c.13052T>C (p.Leu4351Ser)
c.13004T>C (p.Leu4335Ser)
c.12701T>C (p.Leu4234Ser)
c.13235T>C (p.Leu4412Ser)
c.13232T>C (p.Leu4411Ser)
c.13214T>C (p.Leu4405Ser)
c.13190T>C (p.Leu4397Ser)
c.13187T>C (p.Leu4396Ser)
c.13184T>C (p.Leu4395Ser)
c.13136T>C (p.Leu4379Ser)
c.13124T>C (p.Leu4375Ser)
c.12986T>C (p.Leu4329Ser)
c.12833T>C (p.Leu4278Ser)
Xg.53534175A>TCA413145339HUWE1c.12638T>A (p.Leu4213Ter)
c.12854T>A (p.Leu4285Ter)
c.3321T>A
n.167T>A
c.12827T>A (p.Leu4276Ter)
c.13103T>A (p.Leu4368Ter)
c.13100T>A (p.Leu4367Ter)
c.13058T>A (p.Leu4353Ter)
c.13055T>A (p.Leu4352Ter)
c.13052T>A (p.Leu4351Ter)
c.13004T>A (p.Leu4335Ter)
c.12701T>A (p.Leu4234Ter)
c.13235T>A (p.Leu4412Ter)
c.13232T>A (p.Leu4411Ter)
c.13214T>A (p.Leu4405Ter)
c.13190T>A (p.Leu4397Ter)
c.13187T>A (p.Leu4396Ter)
c.13184T>A (p.Leu4395Ter)
c.13136T>A (p.Leu4379Ter)
c.13124T>A (p.Leu4375Ter)
c.12986T>A (p.Leu4329Ter)
c.12833T>A (p.Leu4278Ter)
Xg.53534176A>CCA413145354HUWE1c.12637T>G (p.Leu4213Val)
c.12853T>G (p.Leu4285Val)
c.3320T>G
n.166T>G
c.12826T>G (p.Leu4276Val)
c.13102T>G (p.Leu4368Val)
c.13099T>G (p.Leu4367Val)
c.13057T>G (p.Leu4353Val)
c.13054T>G (p.Leu4352Val)
c.13051T>G (p.Leu4351Val)
c.13003T>G (p.Leu4335Val)
c.12700T>G (p.Leu4234Val)
c.13234T>G (p.Leu4412Val)
c.13231T>G (p.Leu4411Val)
c.13213T>G (p.Leu4405Val)
c.13189T>G (p.Leu4397Val)
c.13186T>G (p.Leu4396Val)
c.13183T>G (p.Leu4395Val)
c.13135T>G (p.Leu4379Val)
c.13123T>G (p.Leu4375Val)
c.12985T>G (p.Leu4329Val)
c.12832T>G (p.Leu4278Val)
Xg.53534176A>GCA516420005HUWE1c.12637T>C (p.Leu4213=)
c.12853T>C (p.Leu4285=)
c.3320T>C
n.166T>C
c.12826T>C (p.Leu4276=)
c.13102T>C (p.Leu4368=)
c.13099T>C (p.Leu4367=)
c.13057T>C (p.Leu4353=)
c.13054T>C (p.Leu4352=)
c.13051T>C (p.Leu4351=)
c.13003T>C (p.Leu4335=)
c.12700T>C (p.Leu4234=)
c.13234T>C (p.Leu4412=)
c.13231T>C (p.Leu4411=)
c.13213T>C (p.Leu4405=)
c.13189T>C (p.Leu4397=)
c.13186T>C (p.Leu4396=)
c.13183T>C (p.Leu4395=)
c.13135T>C (p.Leu4379=)
c.13123T>C (p.Leu4375=)
c.12985T>C (p.Leu4329=)
c.12832T>C (p.Leu4278=)
Xg.53534176A>TCA413145361HUWE1c.12637T>A (p.Leu4213Met)
c.12853T>A (p.Leu4285Met)
c.3320T>A
n.166T>A
c.12826T>A (p.Leu4276Met)
c.13102T>A (p.Leu4368Met)
c.13099T>A (p.Leu4367Met)
c.13057T>A (p.Leu4353Met)
c.13054T>A (p.Leu4352Met)
c.13051T>A (p.Leu4351Met)
c.13003T>A (p.Leu4335Met)
c.12700T>A (p.Leu4234Met)
c.13234T>A (p.Leu4412Met)
c.13231T>A (p.Leu4411Met)
c.13213T>A (p.Leu4405Met)
c.13189T>A (p.Leu4397Met)
c.13186T>A (p.Leu4396Met)
c.13183T>A (p.Leu4395Met)
c.13135T>A (p.Leu4379Met)
c.13123T>A (p.Leu4375Met)
c.12985T>A (p.Leu4329Met)
c.12832T>A (p.Leu4278Met)
Xg.53534177T>ACA516420008HUWE1c.12636A>T (p.Ala4212=)
c.12852A>T (p.Ala4284=)
c.3319A>T
n.165A>T
c.12825A>T (p.Ala4275=)
c.13101A>T (p.Ala4367=)
c.13098A>T (p.Ala4366=)
c.13056A>T (p.Ala4352=)
c.13053A>T (p.Ala4351=)
c.13050A>T (p.Ala4350=)
c.13002A>T (p.Ala4334=)
c.12699A>T (p.Ala4233=)
c.13233A>T (p.Ala4411=)
c.13230A>T (p.Ala4410=)
c.13212A>T (p.Ala4404=)
c.13188A>T (p.Ala4396=)
c.13185A>T (p.Ala4395=)
c.13182A>T (p.Ala4394=)
c.13134A>T (p.Ala4378=)
c.13122A>T (p.Ala4374=)
c.12984A>T (p.Ala4328=)
c.12831A>T (p.Ala4277=)
Xg.53534177T>CCA516420010HUWE1c.12636A>G (p.Ala4212=)
c.12852A>G (p.Ala4284=)
c.3319A>G
n.165A>G
c.12825A>G (p.Ala4275=)
c.13101A>G (p.Ala4367=)
c.13098A>G (p.Ala4366=)
c.13056A>G (p.Ala4352=)
c.13053A>G (p.Ala4351=)
c.13050A>G (p.Ala4350=)
c.13002A>G (p.Ala4334=)
c.12699A>G (p.Ala4233=)
c.13233A>G (p.Ala4411=)
c.13230A>G (p.Ala4410=)
c.13212A>G (p.Ala4404=)
c.13188A>G (p.Ala4396=)
c.13185A>G (p.Ala4395=)
c.13182A>G (p.Ala4394=)
c.13134A>G (p.Ala4378=)
c.13122A>G (p.Ala4374=)
c.12984A>G (p.Ala4328=)
c.12831A>G (p.Ala4277=)
 gnomAD v4
Xg.53534177T>GCA516420012HUWE1c.12636A>C (p.Ala4212=)
c.12852A>C (p.Ala4284=)
c.3319A>C
n.165A>C
c.12825A>C (p.Ala4275=)
c.13101A>C (p.Ala4367=)
c.13098A>C (p.Ala4366=)
c.13056A>C (p.Ala4352=)
c.13053A>C (p.Ala4351=)
c.13050A>C (p.Ala4350=)
c.13002A>C (p.Ala4334=)
c.12699A>C (p.Ala4233=)
c.13233A>C (p.Ala4411=)
c.13230A>C (p.Ala4410=)
c.13212A>C (p.Ala4404=)
c.13188A>C (p.Ala4396=)
c.13185A>C (p.Ala4395=)
c.13182A>C (p.Ala4394=)
c.13134A>C (p.Ala4378=)
c.13122A>C (p.Ala4374=)
c.12984A>C (p.Ala4328=)
c.12831A>C (p.Ala4277=)
Xg.53534178G>ACA413145368HUWE1c.12635C>T (p.Ala4212Val)
c.12851C>T (p.Ala4284Val)
c.3318C>T
n.164C>T
c.12824C>T (p.Ala4275Val)
c.13100C>T (p.Ala4367Val)
c.13097C>T (p.Ala4366Val)
c.13055C>T (p.Ala4352Val)
c.13052C>T (p.Ala4351Val)
c.13049C>T (p.Ala4350Val)
c.13001C>T (p.Ala4334Val)
c.12698C>T (p.Ala4233Val)
c.13232C>T (p.Ala4411Val)
c.13229C>T (p.Ala4410Val)
c.13211C>T (p.Ala4404Val)
c.13187C>T (p.Ala4396Val)
c.13184C>T (p.Ala4395Val)
c.13181C>T (p.Ala4394Val)
c.13133C>T (p.Ala4378Val)
c.13121C>T (p.Ala4374Val)
c.12983C>T (p.Ala4328Val)
c.12830C>T (p.Ala4277Val)
Xg.53534178G>CCA413145374HUWE1c.12635C>G (p.Ala4212Gly)
c.12851C>G (p.Ala4284Gly)
c.3318C>G
n.164C>G
c.12824C>G (p.Ala4275Gly)
c.13100C>G (p.Ala4367Gly)
c.13097C>G (p.Ala4366Gly)
c.13055C>G (p.Ala4352Gly)
c.13052C>G (p.Ala4351Gly)
c.13049C>G (p.Ala4350Gly)
c.13001C>G (p.Ala4334Gly)
c.12698C>G (p.Ala4233Gly)
c.13232C>G (p.Ala4411Gly)
c.13229C>G (p.Ala4410Gly)
c.13211C>G (p.Ala4404Gly)
c.13187C>G (p.Ala4396Gly)
c.13184C>G (p.Ala4395Gly)
c.13181C>G (p.Ala4394Gly)
c.13133C>G (p.Ala4378Gly)
c.13121C>G (p.Ala4374Gly)
c.12983C>G (p.Ala4328Gly)
c.12830C>G (p.Ala4277Gly)
Xg.53534178G>TCA413145376HUWE1c.12635C>A (p.Ala4212Glu)
c.12851C>A (p.Ala4284Glu)
c.3318C>A
n.164C>A
c.12824C>A (p.Ala4275Glu)
c.13100C>A (p.Ala4367Glu)
c.13097C>A (p.Ala4366Glu)
c.13055C>A (p.Ala4352Glu)
c.13052C>A (p.Ala4351Glu)
c.13049C>A (p.Ala4350Glu)
c.13001C>A (p.Ala4334Glu)
c.12698C>A (p.Ala4233Glu)
c.13232C>A (p.Ala4411Glu)
c.13229C>A (p.Ala4410Glu)
c.13211C>A (p.Ala4404Glu)
c.13187C>A (p.Ala4396Glu)
c.13184C>A (p.Ala4395Glu)
c.13181C>A (p.Ala4394Glu)
c.13133C>A (p.Ala4378Glu)
c.13121C>A (p.Ala4374Glu)
c.12983C>A (p.Ala4328Glu)
c.12830C>A (p.Ala4277Glu)
Xg.53534179C>ACA10421120HUWE1c.12634G>T (p.Ala4212Ser)
c.12850G>T (p.Ala4284Ser)
c.3317G>T
n.163G>T
c.12823G>T (p.Ala4275Ser)
c.13099G>T (p.Ala4367Ser)
c.13096G>T (p.Ala4366Ser)
c.13054G>T (p.Ala4352Ser)
c.13051G>T (p.Ala4351Ser)
c.13048G>T (p.Ala4350Ser)
c.13000G>T (p.Ala4334Ser)
c.12697G>T (p.Ala4233Ser)
c.13231G>T (p.Ala4411Ser)
c.13228G>T (p.Ala4410Ser)
c.13210G>T (p.Ala4404Ser)
c.13186G>T (p.Ala4396Ser)
c.13183G>T (p.Ala4395Ser)
c.13180G>T (p.Ala4394Ser)
c.13132G>T (p.Ala4378Ser)
c.13120G>T (p.Ala4374Ser)
c.12982G>T (p.Ala4328Ser)
c.12829G>T (p.Ala4277Ser)
 dbSNP ExAC gnomAD v2
Xg.53534179C=CA2429868927HUWE1c.12634G= (p.Ala4212=)
c.12850G= (p.Ala4284=)
c.3317G=
n.163G=
c.12823G= (p.Ala4275=)
c.13099G= (p.Ala4367=)
c.13096G= (p.Ala4366=)
c.13054G= (p.Ala4352=)
c.13051G= (p.Ala4351=)
c.13048G= (p.Ala4350=)
c.13000G= (p.Ala4334=)
c.12697G= (p.Ala4233=)
c.13231G= (p.Ala4411=)
c.13228G= (p.Ala4410=)
c.13210G= (p.Ala4404=)
c.13186G= (p.Ala4396=)
c.13183G= (p.Ala4395=)
c.13180G= (p.Ala4394=)
c.13132G= (p.Ala4378=)
c.13120G= (p.Ala4374=)
c.12982G= (p.Ala4328=)
c.12829G= (p.Ala4277=)
Xg.53534179C>GCA413145384HUWE1c.12634G>C (p.Ala4212Pro)
c.12850G>C (p.Ala4284Pro)
c.3317G>C
n.163G>C
c.12823G>C (p.Ala4275Pro)
c.13099G>C (p.Ala4367Pro)
c.13096G>C (p.Ala4366Pro)
c.13054G>C (p.Ala4352Pro)
c.13051G>C (p.Ala4351Pro)
c.13048G>C (p.Ala4350Pro)
c.13000G>C (p.Ala4334Pro)
c.12697G>C (p.Ala4233Pro)
c.13231G>C (p.Ala4411Pro)
c.13228G>C (p.Ala4410Pro)
c.13210G>C (p.Ala4404Pro)
c.13186G>C (p.Ala4396Pro)
c.13183G>C (p.Ala4395Pro)
c.13180G>C (p.Ala4394Pro)
c.13132G>C (p.Ala4378Pro)
c.13120G>C (p.Ala4374Pro)
c.12982G>C (p.Ala4328Pro)
c.12829G>C (p.Ala4277Pro)
Xg.53534179C>TCA413145383HUWE1c.12634G>A (p.Ala4212Thr)
c.12850G>A (p.Ala4284Thr)
c.3317G>A
n.163G>A
c.12823G>A (p.Ala4275Thr)
c.13099G>A (p.Ala4367Thr)
c.13096G>A (p.Ala4366Thr)
c.13054G>A (p.Ala4352Thr)
c.13051G>A (p.Ala4351Thr)
c.13048G>A (p.Ala4350Thr)
c.13000G>A (p.Ala4334Thr)
c.12697G>A (p.Ala4233Thr)
c.13231G>A (p.Ala4411Thr)
c.13228G>A (p.Ala4410Thr)
c.13210G>A (p.Ala4404Thr)
c.13186G>A (p.Ala4396Thr)
c.13183G>A (p.Ala4395Thr)
c.13180G>A (p.Ala4394Thr)
c.13132G>A (p.Ala4378Thr)
c.13120G>A (p.Ala4374Thr)
c.12982G>A (p.Ala4328Thr)
c.12829G>A (p.Ala4277Thr)
 gnomAD v4
Xg.53534180T>ACA413145389HUWE1c.12633A>T (p.Arg4211Ser)
c.12849A>T (p.Arg4283Ser)
c.3316A>T
n.162A>T
c.12822A>T (p.Arg4274Ser)
c.13098A>T (p.Arg4366Ser)
c.13095A>T (p.Arg4365Ser)
c.13053A>T (p.Arg4351Ser)
c.13050A>T (p.Arg4350Ser)
c.13047A>T (p.Arg4349Ser)
c.12999A>T (p.Arg4333Ser)
c.12696A>T (p.Arg4232Ser)
c.13230A>T (p.Arg4410Ser)
c.13227A>T (p.Arg4409Ser)
c.13209A>T (p.Arg4403Ser)
c.13185A>T (p.Arg4395Ser)
c.13182A>T (p.Arg4394Ser)
c.13179A>T (p.Arg4393Ser)
c.13131A>T (p.Arg4377Ser)
c.13119A>T (p.Arg4373Ser)
c.12981A>T (p.Arg4327Ser)
c.12828A>T (p.Arg4276Ser)
Xg.53534180T>CCA10421121HUWE1c.12633A>G (p.Arg4211=)
c.12849A>G (p.Arg4283=)
c.3316A>G
n.162A>G
c.12822A>G (p.Arg4274=)
c.13098A>G (p.Arg4366=)
c.13095A>G (p.Arg4365=)
c.13053A>G (p.Arg4351=)
c.13050A>G (p.Arg4350=)
c.13047A>G (p.Arg4349=)
c.12999A>G (p.Arg4333=)
c.12696A>G (p.Arg4232=)
c.13230A>G (p.Arg4410=)
c.13227A>G (p.Arg4409=)
c.13209A>G (p.Arg4403=)
c.13185A>G (p.Arg4395=)
c.13182A>G (p.Arg4394=)
c.13179A>G (p.Arg4393=)
c.13131A>G (p.Arg4377=)
c.13119A>G (p.Arg4373=)
c.12981A>G (p.Arg4327=)
c.12828A>G (p.Arg4276=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534180T>GCA413145390HUWE1c.12633A>C (p.Arg4211Ser)
c.12849A>C (p.Arg4283Ser)
c.3316A>C
n.162A>C
c.12822A>C (p.Arg4274Ser)
c.13098A>C (p.Arg4366Ser)
c.13095A>C (p.Arg4365Ser)
c.13053A>C (p.Arg4351Ser)
c.13050A>C (p.Arg4350Ser)
c.13047A>C (p.Arg4349Ser)
c.12999A>C (p.Arg4333Ser)
c.12696A>C (p.Arg4232Ser)
c.13230A>C (p.Arg4410Ser)
c.13227A>C (p.Arg4409Ser)
c.13209A>C (p.Arg4403Ser)
c.13185A>C (p.Arg4395Ser)
c.13182A>C (p.Arg4394Ser)
c.13179A>C (p.Arg4393Ser)
c.13131A>C (p.Arg4377Ser)
c.13119A>C (p.Arg4373Ser)
c.12981A>C (p.Arg4327Ser)
c.12828A>C (p.Arg4276Ser)
Xg.53534180T=CA2429868928HUWE1c.12633A= (p.Arg4211=)
c.12849A= (p.Arg4283=)
c.3316A=
n.162A=
c.12822A= (p.Arg4274=)
c.13098A= (p.Arg4366=)
c.13095A= (p.Arg4365=)
c.13053A= (p.Arg4351=)
c.13050A= (p.Arg4350=)
c.13047A= (p.Arg4349=)
c.12999A= (p.Arg4333=)
c.12696A= (p.Arg4232=)
c.13230A= (p.Arg4410=)
c.13227A= (p.Arg4409=)
c.13209A= (p.Arg4403=)
c.13185A= (p.Arg4395=)
c.13182A= (p.Arg4394=)
c.13179A= (p.Arg4393=)
c.13131A= (p.Arg4377=)
c.13119A= (p.Arg4373=)
c.12981A= (p.Arg4327=)
c.12828A= (p.Arg4276=)
Xg.53534181C>ACA413145392HUWE1c.12632G>T (p.Arg4211Ile)
c.12848G>T (p.Arg4283Ile)
c.3315G>T
n.161G>T
c.12821G>T (p.Arg4274Ile)
c.13097G>T (p.Arg4366Ile)
c.13094G>T (p.Arg4365Ile)
c.13052G>T (p.Arg4351Ile)
c.13049G>T (p.Arg4350Ile)
c.13046G>T (p.Arg4349Ile)
c.12998G>T (p.Arg4333Ile)
c.12695G>T (p.Arg4232Ile)
c.13229G>T (p.Arg4410Ile)
c.13226G>T (p.Arg4409Ile)
c.13208G>T (p.Arg4403Ile)
c.13184G>T (p.Arg4395Ile)
c.13181G>T (p.Arg4394Ile)
c.13178G>T (p.Arg4393Ile)
c.13130G>T (p.Arg4377Ile)
c.13118G>T (p.Arg4373Ile)
c.12980G>T (p.Arg4327Ile)
c.12827G>T (p.Arg4276Ile)
Xg.53534181C>GCA413145393HUWE1c.12632G>C (p.Arg4211Thr)
c.12848G>C (p.Arg4283Thr)
c.3315G>C
n.161G>C
c.12821G>C (p.Arg4274Thr)
c.13097G>C (p.Arg4366Thr)
c.13094G>C (p.Arg4365Thr)
c.13052G>C (p.Arg4351Thr)
c.13049G>C (p.Arg4350Thr)
c.13046G>C (p.Arg4349Thr)
c.12998G>C (p.Arg4333Thr)
c.12695G>C (p.Arg4232Thr)
c.13229G>C (p.Arg4410Thr)
c.13226G>C (p.Arg4409Thr)
c.13208G>C (p.Arg4403Thr)
c.13184G>C (p.Arg4395Thr)
c.13181G>C (p.Arg4394Thr)
c.13178G>C (p.Arg4393Thr)
c.13130G>C (p.Arg4377Thr)
c.13118G>C (p.Arg4373Thr)
c.12980G>C (p.Arg4327Thr)
c.12827G>C (p.Arg4276Thr)
Xg.53534181C>TCA413145395HUWE1c.12632G>A (p.Arg4211Lys)
c.12848G>A (p.Arg4283Lys)
c.3315G>A
n.161G>A
c.12821G>A (p.Arg4274Lys)
c.13097G>A (p.Arg4366Lys)
c.13094G>A (p.Arg4365Lys)
c.13052G>A (p.Arg4351Lys)
c.13049G>A (p.Arg4350Lys)
c.13046G>A (p.Arg4349Lys)
c.12998G>A (p.Arg4333Lys)
c.12695G>A (p.Arg4232Lys)
c.13229G>A (p.Arg4410Lys)
c.13226G>A (p.Arg4409Lys)
c.13208G>A (p.Arg4403Lys)
c.13184G>A (p.Arg4395Lys)
c.13181G>A (p.Arg4394Lys)
c.13178G>A (p.Arg4393Lys)
c.13130G>A (p.Arg4377Lys)
c.13118G>A (p.Arg4373Lys)
c.12980G>A (p.Arg4327Lys)
c.12827G>A (p.Arg4276Lys)
Xg.53534182T>ACA413145399HUWE1c.12631A>T (p.Arg4211Ter)
c.12847A>T (p.Arg4283Ter)
c.3314A>T
n.160A>T
c.12820A>T (p.Arg4274Ter)
c.13096A>T (p.Arg4366Ter)
c.13093A>T (p.Arg4365Ter)
c.13051A>T (p.Arg4351Ter)
c.13048A>T (p.Arg4350Ter)
c.13045A>T (p.Arg4349Ter)
c.12997A>T (p.Arg4333Ter)
c.12694A>T (p.Arg4232Ter)
c.13228A>T (p.Arg4410Ter)
c.13225A>T (p.Arg4409Ter)
c.13207A>T (p.Arg4403Ter)
c.13183A>T (p.Arg4395Ter)
c.13180A>T (p.Arg4394Ter)
c.13177A>T (p.Arg4393Ter)
c.13129A>T (p.Arg4377Ter)
c.13117A>T (p.Arg4373Ter)
c.12979A>T (p.Arg4327Ter)
c.12826A>T (p.Arg4276Ter)
Xg.53534182T>CCA413145403HUWE1c.12631A>G (p.Arg4211Gly)
c.12847A>G (p.Arg4283Gly)
c.3314A>G
n.160A>G
c.12820A>G (p.Arg4274Gly)
c.13096A>G (p.Arg4366Gly)
c.13093A>G (p.Arg4365Gly)
c.13051A>G (p.Arg4351Gly)
c.13048A>G (p.Arg4350Gly)
c.13045A>G (p.Arg4349Gly)
c.12997A>G (p.Arg4333Gly)
c.12694A>G (p.Arg4232Gly)
c.13228A>G (p.Arg4410Gly)
c.13225A>G (p.Arg4409Gly)
c.13207A>G (p.Arg4403Gly)
c.13183A>G (p.Arg4395Gly)
c.13180A>G (p.Arg4394Gly)
c.13177A>G (p.Arg4393Gly)
c.13129A>G (p.Arg4377Gly)
c.13117A>G (p.Arg4373Gly)
c.12979A>G (p.Arg4327Gly)
c.12826A>G (p.Arg4276Gly)
Xg.53534182T>GCA516420032HUWE1c.12631A>C (p.Arg4211=)
c.12847A>C (p.Arg4283=)
c.3314A>C
n.160A>C
c.12820A>C (p.Arg4274=)
c.13096A>C (p.Arg4366=)
c.13093A>C (p.Arg4365=)
c.13051A>C (p.Arg4351=)
c.13048A>C (p.Arg4350=)
c.13045A>C (p.Arg4349=)
c.12997A>C (p.Arg4333=)
c.12694A>C (p.Arg4232=)
c.13228A>C (p.Arg4410=)
c.13225A>C (p.Arg4409=)
c.13207A>C (p.Arg4403=)
c.13183A>C (p.Arg4395=)
c.13180A>C (p.Arg4394=)
c.13177A>C (p.Arg4393=)
c.13129A>C (p.Arg4377=)
c.13117A>C (p.Arg4373=)
c.12979A>C (p.Arg4327=)
c.12826A>C (p.Arg4276=)
Xg.53534183C>ACA413145409HUWE1c.12630G>T (p.Trp4210Cys)
c.12846G>T (p.Trp4282Cys)
c.3313G>T
n.159G>T
c.12819G>T (p.Trp4273Cys)
c.13095G>T (p.Trp4365Cys)
c.13092G>T (p.Trp4364Cys)
c.13050G>T (p.Trp4350Cys)
c.13047G>T (p.Trp4349Cys)
c.13044G>T (p.Trp4348Cys)
c.12996G>T (p.Trp4332Cys)
c.12693G>T (p.Trp4231Cys)
c.13227G>T (p.Trp4409Cys)
c.13224G>T (p.Trp4408Cys)
c.13206G>T (p.Trp4402Cys)
c.13182G>T (p.Trp4394Cys)
c.13179G>T (p.Trp4393Cys)
c.13176G>T (p.Trp4392Cys)
c.13128G>T (p.Trp4376Cys)
c.13116G>T (p.Trp4372Cys)
c.12978G>T (p.Trp4326Cys)
c.12825G>T (p.Trp4275Cys)
Xg.53534183C>GCA413145415HUWE1c.12630G>C (p.Trp4210Cys)
c.12846G>C (p.Trp4282Cys)
c.3313G>C
n.159G>C
c.12819G>C (p.Trp4273Cys)
c.13095G>C (p.Trp4365Cys)
c.13092G>C (p.Trp4364Cys)
c.13050G>C (p.Trp4350Cys)
c.13047G>C (p.Trp4349Cys)
c.13044G>C (p.Trp4348Cys)
c.12996G>C (p.Trp4332Cys)
c.12693G>C (p.Trp4231Cys)
c.13227G>C (p.Trp4409Cys)
c.13224G>C (p.Trp4408Cys)
c.13206G>C (p.Trp4402Cys)
c.13182G>C (p.Trp4394Cys)
c.13179G>C (p.Trp4393Cys)
c.13176G>C (p.Trp4392Cys)
c.13128G>C (p.Trp4376Cys)
c.13116G>C (p.Trp4372Cys)
c.12978G>C (p.Trp4326Cys)
c.12825G>C (p.Trp4275Cys)
Xg.53534183C>TCA413145419HUWE1c.12630G>A (p.Trp4210Ter)
c.12846G>A (p.Trp4282Ter)
c.3313G>A
n.159G>A
c.12819G>A (p.Trp4273Ter)
c.13095G>A (p.Trp4365Ter)
c.13092G>A (p.Trp4364Ter)
c.13050G>A (p.Trp4350Ter)
c.13047G>A (p.Trp4349Ter)
c.13044G>A (p.Trp4348Ter)
c.12996G>A (p.Trp4332Ter)
c.12693G>A (p.Trp4231Ter)
c.13227G>A (p.Trp4409Ter)
c.13224G>A (p.Trp4408Ter)
c.13206G>A (p.Trp4402Ter)
c.13182G>A (p.Trp4394Ter)
c.13179G>A (p.Trp4393Ter)
c.13176G>A (p.Trp4392Ter)
c.13128G>A (p.Trp4376Ter)
c.13116G>A (p.Trp4372Ter)
c.12978G>A (p.Trp4326Ter)
c.12825G>A (p.Trp4275Ter)
Xg.53534184C>ACA413145432HUWE1c.12629G>T (p.Trp4210Leu)
c.12845G>T (p.Trp4282Leu)
c.3312G>T
n.158G>T
c.12818G>T (p.Trp4273Leu)
c.13094G>T (p.Trp4365Leu)
c.13091G>T (p.Trp4364Leu)
c.13049G>T (p.Trp4350Leu)
c.13046G>T (p.Trp4349Leu)
c.13043G>T (p.Trp4348Leu)
c.12995G>T (p.Trp4332Leu)
c.12692G>T (p.Trp4231Leu)
c.13226G>T (p.Trp4409Leu)
c.13223G>T (p.Trp4408Leu)
c.13205G>T (p.Trp4402Leu)
c.13181G>T (p.Trp4394Leu)
c.13178G>T (p.Trp4393Leu)
c.13175G>T (p.Trp4392Leu)
c.13127G>T (p.Trp4376Leu)
c.13115G>T (p.Trp4372Leu)
c.12977G>T (p.Trp4326Leu)
c.12824G>T (p.Trp4275Leu)
Xg.53534184C>GCA413145437HUWE1c.12629G>C (p.Trp4210Ser)
c.12845G>C (p.Trp4282Ser)
c.3312G>C
n.158G>C
c.12818G>C (p.Trp4273Ser)
c.13094G>C (p.Trp4365Ser)
c.13091G>C (p.Trp4364Ser)
c.13049G>C (p.Trp4350Ser)
c.13046G>C (p.Trp4349Ser)
c.13043G>C (p.Trp4348Ser)
c.12995G>C (p.Trp4332Ser)
c.12692G>C (p.Trp4231Ser)
c.13226G>C (p.Trp4409Ser)
c.13223G>C (p.Trp4408Ser)
c.13205G>C (p.Trp4402Ser)
c.13181G>C (p.Trp4394Ser)
c.13178G>C (p.Trp4393Ser)
c.13175G>C (p.Trp4392Ser)
c.13127G>C (p.Trp4376Ser)
c.13115G>C (p.Trp4372Ser)
c.12977G>C (p.Trp4326Ser)
c.12824G>C (p.Trp4275Ser)
Xg.53534184C>TCA413145428HUWE1c.12629G>A (p.Trp4210Ter)
c.12845G>A (p.Trp4282Ter)
c.3312G>A
n.158G>A
c.12818G>A (p.Trp4273Ter)
c.13094G>A (p.Trp4365Ter)
c.13091G>A (p.Trp4364Ter)
c.13049G>A (p.Trp4350Ter)
c.13046G>A (p.Trp4349Ter)
c.13043G>A (p.Trp4348Ter)
c.12995G>A (p.Trp4332Ter)
c.12692G>A (p.Trp4231Ter)
c.13226G>A (p.Trp4409Ter)
c.13223G>A (p.Trp4408Ter)
c.13205G>A (p.Trp4402Ter)
c.13181G>A (p.Trp4394Ter)
c.13178G>A (p.Trp4393Ter)
c.13175G>A (p.Trp4392Ter)
c.13127G>A (p.Trp4376Ter)
c.13115G>A (p.Trp4372Ter)
c.12977G>A (p.Trp4326Ter)
c.12824G>A (p.Trp4275Ter)
Xg.53534185A>CCA413145440HUWE1c.12628T>G (p.Trp4210Gly)
c.12844T>G (p.Trp4282Gly)
c.3311T>G
n.157T>G
c.12817T>G (p.Trp4273Gly)
c.13093T>G (p.Trp4365Gly)
c.13090T>G (p.Trp4364Gly)
c.13048T>G (p.Trp4350Gly)
c.13045T>G (p.Trp4349Gly)
c.13042T>G (p.Trp4348Gly)
c.12994T>G (p.Trp4332Gly)
c.12691T>G (p.Trp4231Gly)
c.13225T>G (p.Trp4409Gly)
c.13222T>G (p.Trp4408Gly)
c.13204T>G (p.Trp4402Gly)
c.13180T>G (p.Trp4394Gly)
c.13177T>G (p.Trp4393Gly)
c.13174T>G (p.Trp4392Gly)
c.13126T>G (p.Trp4376Gly)
c.13114T>G (p.Trp4372Gly)
c.12976T>G (p.Trp4326Gly)
c.12823T>G (p.Trp4275Gly)
Xg.53534185A>GCA413145448HUWE1c.12628T>C (p.Trp4210Arg)
c.12844T>C (p.Trp4282Arg)
c.3311T>C
n.157T>C
c.12817T>C (p.Trp4273Arg)
c.13093T>C (p.Trp4365Arg)
c.13090T>C (p.Trp4364Arg)
c.13048T>C (p.Trp4350Arg)
c.13045T>C (p.Trp4349Arg)
c.13042T>C (p.Trp4348Arg)
c.12994T>C (p.Trp4332Arg)
c.12691T>C (p.Trp4231Arg)
c.13225T>C (p.Trp4409Arg)
c.13222T>C (p.Trp4408Arg)
c.13204T>C (p.Trp4402Arg)
c.13180T>C (p.Trp4394Arg)
c.13177T>C (p.Trp4393Arg)
c.13174T>C (p.Trp4392Arg)
c.13126T>C (p.Trp4376Arg)
c.13114T>C (p.Trp4372Arg)
c.12976T>C (p.Trp4326Arg)
c.12823T>C (p.Trp4275Arg)
Xg.53534185A>TCA413145441HUWE1c.12628T>A (p.Trp4210Arg)
c.12844T>A (p.Trp4282Arg)
c.3311T>A
n.157T>A
c.12817T>A (p.Trp4273Arg)
c.13093T>A (p.Trp4365Arg)
c.13090T>A (p.Trp4364Arg)
c.13048T>A (p.Trp4350Arg)
c.13045T>A (p.Trp4349Arg)
c.13042T>A (p.Trp4348Arg)
c.12994T>A (p.Trp4332Arg)
c.12691T>A (p.Trp4231Arg)
c.13225T>A (p.Trp4409Arg)
c.13222T>A (p.Trp4408Arg)
c.13204T>A (p.Trp4402Arg)
c.13180T>A (p.Trp4394Arg)
c.13177T>A (p.Trp4393Arg)
c.13174T>A (p.Trp4392Arg)
c.13126T>A (p.Trp4376Arg)
c.13114T>A (p.Trp4372Arg)
c.12976T>A (p.Trp4326Arg)
c.12823T>A (p.Trp4275Arg)
Xg.53534186G>ACA516420046HUWE1c.12627C>T (p.Phe4209=)
c.12843C>T (p.Phe4281=)
c.3310C>T
n.156C>T
c.12816C>T (p.Phe4272=)
c.13092C>T (p.Phe4364=)
c.13089C>T (p.Phe4363=)
c.13047C>T (p.Phe4349=)
c.13044C>T (p.Phe4348=)
c.13041C>T (p.Phe4347=)
c.12993C>T (p.Phe4331=)
c.12690C>T (p.Phe4230=)
c.13224C>T (p.Phe4408=)
c.13221C>T (p.Phe4407=)
c.13203C>T (p.Phe4401=)
c.13179C>T (p.Phe4393=)
c.13176C>T (p.Phe4392=)
c.13173C>T (p.Phe4391=)
c.13125C>T (p.Phe4375=)
c.13113C>T (p.Phe4371=)
c.12975C>T (p.Phe4325=)
c.12822C>T (p.Phe4274=)
 dbSNP
Xg.53534186G>CCA413145453HUWE1c.12627C>G (p.Phe4209Leu)
c.12843C>G (p.Phe4281Leu)
c.3310C>G
n.156C>G
c.12816C>G (p.Phe4272Leu)
c.13092C>G (p.Phe4364Leu)
c.13089C>G (p.Phe4363Leu)
c.13047C>G (p.Phe4349Leu)
c.13044C>G (p.Phe4348Leu)
c.13041C>G (p.Phe4347Leu)
c.12993C>G (p.Phe4331Leu)
c.12690C>G (p.Phe4230Leu)
c.13224C>G (p.Phe4408Leu)
c.13221C>G (p.Phe4407Leu)
c.13203C>G (p.Phe4401Leu)
c.13179C>G (p.Phe4393Leu)
c.13176C>G (p.Phe4392Leu)
c.13173C>G (p.Phe4391Leu)
c.13125C>G (p.Phe4375Leu)
c.13113C>G (p.Phe4371Leu)
c.12975C>G (p.Phe4325Leu)
c.12822C>G (p.Phe4274Leu)
Xg.53534186G=CA2429868929HUWE1c.12627C= (p.Phe4209=)
c.12843C= (p.Phe4281=)
c.3310C=
n.156C=
c.12816C= (p.Phe4272=)
c.13092C= (p.Phe4364=)
c.13089C= (p.Phe4363=)
c.13047C= (p.Phe4349=)
c.13044C= (p.Phe4348=)
c.13041C= (p.Phe4347=)
c.12993C= (p.Phe4331=)
c.12690C= (p.Phe4230=)
c.13224C= (p.Phe4408=)
c.13221C= (p.Phe4407=)
c.13203C= (p.Phe4401=)
c.13179C= (p.Phe4393=)
c.13176C= (p.Phe4392=)
c.13173C= (p.Phe4391=)
c.13125C= (p.Phe4375=)
c.13113C= (p.Phe4371=)
c.12975C= (p.Phe4325=)
c.12822C= (p.Phe4274=)
Xg.53534186G>TCA413145454HUWE1c.12627C>A (p.Phe4209Leu)
c.12843C>A (p.Phe4281Leu)
c.3310C>A
n.156C>A
c.12816C>A (p.Phe4272Leu)
c.13092C>A (p.Phe4364Leu)
c.13089C>A (p.Phe4363Leu)
c.13047C>A (p.Phe4349Leu)
c.13044C>A (p.Phe4348Leu)
c.13041C>A (p.Phe4347Leu)
c.12993C>A (p.Phe4331Leu)
c.12690C>A (p.Phe4230Leu)
c.13224C>A (p.Phe4408Leu)
c.13221C>A (p.Phe4407Leu)
c.13203C>A (p.Phe4401Leu)
c.13179C>A (p.Phe4393Leu)
c.13176C>A (p.Phe4392Leu)
c.13173C>A (p.Phe4391Leu)
c.13125C>A (p.Phe4375Leu)
c.13113C>A (p.Phe4371Leu)
c.12975C>A (p.Phe4325Leu)
c.12822C>A (p.Phe4274Leu)
 gnomAD v4
Xg.53534187A>CCA413145456HUWE1c.12626T>G (p.Phe4209Cys)
c.12842T>G (p.Phe4281Cys)
c.3309T>G
n.155T>G
c.12815T>G (p.Phe4272Cys)
c.13091T>G (p.Phe4364Cys)
c.13088T>G (p.Phe4363Cys)
c.13046T>G (p.Phe4349Cys)
c.13043T>G (p.Phe4348Cys)
c.13040T>G (p.Phe4347Cys)
c.12992T>G (p.Phe4331Cys)
c.12689T>G (p.Phe4230Cys)
c.13223T>G (p.Phe4408Cys)
c.13220T>G (p.Phe4407Cys)
c.13202T>G (p.Phe4401Cys)
c.13178T>G (p.Phe4393Cys)
c.13175T>G (p.Phe4392Cys)
c.13172T>G (p.Phe4391Cys)
c.13124T>G (p.Phe4375Cys)
c.13112T>G (p.Phe4371Cys)
c.12974T>G (p.Phe4325Cys)
c.12821T>G (p.Phe4274Cys)
Xg.53534187A>GCA413145462HUWE1c.12626T>C (p.Phe4209Ser)
c.12842T>C (p.Phe4281Ser)
c.3309T>C
n.155T>C
c.12815T>C (p.Phe4272Ser)
c.13091T>C (p.Phe4364Ser)
c.13088T>C (p.Phe4363Ser)
c.13046T>C (p.Phe4349Ser)
c.13043T>C (p.Phe4348Ser)
c.13040T>C (p.Phe4347Ser)
c.12992T>C (p.Phe4331Ser)
c.12689T>C (p.Phe4230Ser)
c.13223T>C (p.Phe4408Ser)
c.13220T>C (p.Phe4407Ser)
c.13202T>C (p.Phe4401Ser)
c.13178T>C (p.Phe4393Ser)
c.13175T>C (p.Phe4392Ser)
c.13172T>C (p.Phe4391Ser)
c.13124T>C (p.Phe4375Ser)
c.13112T>C (p.Phe4371Ser)
c.12974T>C (p.Phe4325Ser)
c.12821T>C (p.Phe4274Ser)
Xg.53534187A>TCA413145459HUWE1c.12626T>A (p.Phe4209Tyr)
c.12842T>A (p.Phe4281Tyr)
c.3309T>A
n.155T>A
c.12815T>A (p.Phe4272Tyr)
c.13091T>A (p.Phe4364Tyr)
c.13088T>A (p.Phe4363Tyr)
c.13046T>A (p.Phe4349Tyr)
c.13043T>A (p.Phe4348Tyr)
c.13040T>A (p.Phe4347Tyr)
c.12992T>A (p.Phe4331Tyr)
c.12689T>A (p.Phe4230Tyr)
c.13223T>A (p.Phe4408Tyr)
c.13220T>A (p.Phe4407Tyr)
c.13202T>A (p.Phe4401Tyr)
c.13178T>A (p.Phe4393Tyr)
c.13175T>A (p.Phe4392Tyr)
c.13172T>A (p.Phe4391Tyr)
c.13124T>A (p.Phe4375Tyr)
c.13112T>A (p.Phe4371Tyr)
c.12974T>A (p.Phe4325Tyr)
c.12821T>A (p.Phe4274Tyr)
Xg.53534188A>CCA413145471HUWE1c.12625T>G (p.Phe4209Val)
c.12841T>G (p.Phe4281Val)
c.3308T>G
n.154T>G
c.12814T>G (p.Phe4272Val)
c.13090T>G (p.Phe4364Val)
c.13087T>G (p.Phe4363Val)
c.13045T>G (p.Phe4349Val)
c.13042T>G (p.Phe4348Val)
c.13039T>G (p.Phe4347Val)
c.12991T>G (p.Phe4331Val)
c.12688T>G (p.Phe4230Val)
c.13222T>G (p.Phe4408Val)
c.13219T>G (p.Phe4407Val)
c.13201T>G (p.Phe4401Val)
c.13177T>G (p.Phe4393Val)
c.13174T>G (p.Phe4392Val)
c.13171T>G (p.Phe4391Val)
c.13123T>G (p.Phe4375Val)
c.13111T>G (p.Phe4371Val)
c.12973T>G (p.Phe4325Val)
c.12820T>G (p.Phe4274Val)
Xg.53534188A>GCA413145472HUWE1c.12625T>C (p.Phe4209Leu)
c.12841T>C (p.Phe4281Leu)
c.3308T>C
n.154T>C
c.12814T>C (p.Phe4272Leu)
c.13090T>C (p.Phe4364Leu)
c.13087T>C (p.Phe4363Leu)
c.13045T>C (p.Phe4349Leu)
c.13042T>C (p.Phe4348Leu)
c.13039T>C (p.Phe4347Leu)
c.12991T>C (p.Phe4331Leu)
c.12688T>C (p.Phe4230Leu)
c.13222T>C (p.Phe4408Leu)
c.13219T>C (p.Phe4407Leu)
c.13201T>C (p.Phe4401Leu)
c.13177T>C (p.Phe4393Leu)
c.13174T>C (p.Phe4392Leu)
c.13171T>C (p.Phe4391Leu)
c.13123T>C (p.Phe4375Leu)
c.13111T>C (p.Phe4371Leu)
c.12973T>C (p.Phe4325Leu)
c.12820T>C (p.Phe4274Leu)
Xg.53534188A>TCA413145477HUWE1c.12625T>A (p.Phe4209Ile)
c.12841T>A (p.Phe4281Ile)
c.3308T>A
n.154T>A
c.12814T>A (p.Phe4272Ile)
c.13090T>A (p.Phe4364Ile)
c.13087T>A (p.Phe4363Ile)
c.13045T>A (p.Phe4349Ile)
c.13042T>A (p.Phe4348Ile)
c.13039T>A (p.Phe4347Ile)
c.12991T>A (p.Phe4331Ile)
c.12688T>A (p.Phe4230Ile)
c.13222T>A (p.Phe4408Ile)
c.13219T>A (p.Phe4407Ile)
c.13201T>A (p.Phe4401Ile)
c.13177T>A (p.Phe4393Ile)
c.13174T>A (p.Phe4392Ile)
c.13171T>A (p.Phe4391Ile)
c.13123T>A (p.Phe4375Ile)
c.13111T>A (p.Phe4371Ile)
c.12973T>A (p.Phe4325Ile)
c.12820T>A (p.Phe4274Ile)
Xg.53534189C>ACA413145487HUWE1c.12624G>T (p.Trp4208Cys)
c.12840G>T (p.Trp4280Cys)
c.3307G>T
n.153G>T
c.12813G>T (p.Trp4271Cys)
c.13089G>T (p.Trp4363Cys)
c.13086G>T (p.Trp4362Cys)
c.13044G>T (p.Trp4348Cys)
c.13041G>T (p.Trp4347Cys)
c.13038G>T (p.Trp4346Cys)
c.12990G>T (p.Trp4330Cys)
c.12687G>T (p.Trp4229Cys)
c.13221G>T (p.Trp4407Cys)
c.13218G>T (p.Trp4406Cys)
c.13200G>T (p.Trp4400Cys)
c.13176G>T (p.Trp4392Cys)
c.13173G>T (p.Trp4391Cys)
c.13170G>T (p.Trp4390Cys)
c.13122G>T (p.Trp4374Cys)
c.13110G>T (p.Trp4370Cys)
c.12972G>T (p.Trp4324Cys)
c.12819G>T (p.Trp4273Cys)
Xg.53534189C>GCA413145492HUWE1c.12624G>C (p.Trp4208Cys)
c.12840G>C (p.Trp4280Cys)
c.3307G>C
n.153G>C
c.12813G>C (p.Trp4271Cys)
c.13089G>C (p.Trp4363Cys)
c.13086G>C (p.Trp4362Cys)
c.13044G>C (p.Trp4348Cys)
c.13041G>C (p.Trp4347Cys)
c.13038G>C (p.Trp4346Cys)
c.12990G>C (p.Trp4330Cys)
c.12687G>C (p.Trp4229Cys)
c.13221G>C (p.Trp4407Cys)
c.13218G>C (p.Trp4406Cys)
c.13200G>C (p.Trp4400Cys)
c.13176G>C (p.Trp4392Cys)
c.13173G>C (p.Trp4391Cys)
c.13170G>C (p.Trp4390Cys)
c.13122G>C (p.Trp4374Cys)
c.13110G>C (p.Trp4370Cys)
c.12972G>C (p.Trp4324Cys)
c.12819G>C (p.Trp4273Cys)
Xg.53534189C>TCA413145495HUWE1c.12624G>A (p.Trp4208Ter)
c.12840G>A (p.Trp4280Ter)
c.3307G>A
n.153G>A
c.12813G>A (p.Trp4271Ter)
c.13089G>A (p.Trp4363Ter)
c.13086G>A (p.Trp4362Ter)
c.13044G>A (p.Trp4348Ter)
c.13041G>A (p.Trp4347Ter)
c.13038G>A (p.Trp4346Ter)
c.12990G>A (p.Trp4330Ter)
c.12687G>A (p.Trp4229Ter)
c.13221G>A (p.Trp4407Ter)
c.13218G>A (p.Trp4406Ter)
c.13200G>A (p.Trp4400Ter)
c.13176G>A (p.Trp4392Ter)
c.13173G>A (p.Trp4391Ter)
c.13170G>A (p.Trp4390Ter)
c.13122G>A (p.Trp4374Ter)
c.13110G>A (p.Trp4370Ter)
c.12972G>A (p.Trp4324Ter)
c.12819G>A (p.Trp4273Ter)
Xg.53534190C>ACA413145499HUWE1c.12623G>T (p.Trp4208Leu)
c.12839G>T (p.Trp4280Leu)
c.3306G>T
n.152G>T
c.12812G>T (p.Trp4271Leu)
c.13088G>T (p.Trp4363Leu)
c.13085G>T (p.Trp4362Leu)
c.13043G>T (p.Trp4348Leu)
c.13040G>T (p.Trp4347Leu)
c.13037G>T (p.Trp4346Leu)
c.12989G>T (p.Trp4330Leu)
c.12686G>T (p.Trp4229Leu)
c.13220G>T (p.Trp4407Leu)
c.13217G>T (p.Trp4406Leu)
c.13199G>T (p.Trp4400Leu)
c.13175G>T (p.Trp4392Leu)
c.13172G>T (p.Trp4391Leu)
c.13169G>T (p.Trp4390Leu)
c.13121G>T (p.Trp4374Leu)
c.13109G>T (p.Trp4370Leu)
c.12971G>T (p.Trp4324Leu)
c.12818G>T (p.Trp4273Leu)
Xg.53534190C>GCA413145500HUWE1c.12623G>C (p.Trp4208Ser)
c.12839G>C (p.Trp4280Ser)
c.3306G>C
n.152G>C
c.12812G>C (p.Trp4271Ser)
c.13088G>C (p.Trp4363Ser)
c.13085G>C (p.Trp4362Ser)
c.13043G>C (p.Trp4348Ser)
c.13040G>C (p.Trp4347Ser)
c.13037G>C (p.Trp4346Ser)
c.12989G>C (p.Trp4330Ser)
c.12686G>C (p.Trp4229Ser)
c.13220G>C (p.Trp4407Ser)
c.13217G>C (p.Trp4406Ser)
c.13199G>C (p.Trp4400Ser)
c.13175G>C (p.Trp4392Ser)
c.13172G>C (p.Trp4391Ser)
c.13169G>C (p.Trp4390Ser)
c.13121G>C (p.Trp4374Ser)
c.13109G>C (p.Trp4370Ser)
c.12971G>C (p.Trp4324Ser)
c.12818G>C (p.Trp4273Ser)
Xg.53534190C>TCA413145502HUWE1c.12623G>A (p.Trp4208Ter)
c.12839G>A (p.Trp4280Ter)
c.3306G>A
n.152G>A
c.12812G>A (p.Trp4271Ter)
c.13088G>A (p.Trp4363Ter)
c.13085G>A (p.Trp4362Ter)
c.13043G>A (p.Trp4348Ter)
c.13040G>A (p.Trp4347Ter)
c.13037G>A (p.Trp4346Ter)
c.12989G>A (p.Trp4330Ter)
c.12686G>A (p.Trp4229Ter)
c.13220G>A (p.Trp4407Ter)
c.13217G>A (p.Trp4406Ter)
c.13199G>A (p.Trp4400Ter)
c.13175G>A (p.Trp4392Ter)
c.13172G>A (p.Trp4391Ter)
c.13169G>A (p.Trp4390Ter)
c.13121G>A (p.Trp4374Ter)
c.13109G>A (p.Trp4370Ter)
c.12971G>A (p.Trp4324Ter)
c.12818G>A (p.Trp4273Ter)
Xg.53534191A>CCA413145504HUWE1c.12622T>G (p.Trp4208Gly)
c.12838T>G (p.Trp4280Gly)
c.3305T>G
n.151T>G
c.12811T>G (p.Trp4271Gly)
c.13087T>G (p.Trp4363Gly)
c.13084T>G (p.Trp4362Gly)
c.13042T>G (p.Trp4348Gly)
c.13039T>G (p.Trp4347Gly)
c.13036T>G (p.Trp4346Gly)
c.12988T>G (p.Trp4330Gly)
c.12685T>G (p.Trp4229Gly)
c.13219T>G (p.Trp4407Gly)
c.13216T>G (p.Trp4406Gly)
c.13198T>G (p.Trp4400Gly)
c.13174T>G (p.Trp4392Gly)
c.13171T>G (p.Trp4391Gly)
c.13168T>G (p.Trp4390Gly)
c.13120T>G (p.Trp4374Gly)
c.13108T>G (p.Trp4370Gly)
c.12970T>G (p.Trp4324Gly)
c.12817T>G (p.Trp4273Gly)
Xg.53534191A>GCA413145508HUWE1c.12622T>C (p.Trp4208Arg)
c.12838T>C (p.Trp4280Arg)
c.3305T>C
n.151T>C
c.12811T>C (p.Trp4271Arg)
c.13087T>C (p.Trp4363Arg)
c.13084T>C (p.Trp4362Arg)
c.13042T>C (p.Trp4348Arg)
c.13039T>C (p.Trp4347Arg)
c.13036T>C (p.Trp4346Arg)
c.12988T>C (p.Trp4330Arg)
c.12685T>C (p.Trp4229Arg)
c.13219T>C (p.Trp4407Arg)
c.13216T>C (p.Trp4406Arg)
c.13198T>C (p.Trp4400Arg)
c.13174T>C (p.Trp4392Arg)
c.13171T>C (p.Trp4391Arg)
c.13168T>C (p.Trp4390Arg)
c.13120T>C (p.Trp4374Arg)
c.13108T>C (p.Trp4370Arg)
c.12970T>C (p.Trp4324Arg)
c.12817T>C (p.Trp4273Arg)
Xg.53534191A>TCA413145511HUWE1c.12622T>A (p.Trp4208Arg)
c.12838T>A (p.Trp4280Arg)
c.3305T>A
n.151T>A
c.12811T>A (p.Trp4271Arg)
c.13087T>A (p.Trp4363Arg)
c.13084T>A (p.Trp4362Arg)
c.13042T>A (p.Trp4348Arg)
c.13039T>A (p.Trp4347Arg)
c.13036T>A (p.Trp4346Arg)
c.12988T>A (p.Trp4330Arg)
c.12685T>A (p.Trp4229Arg)
c.13219T>A (p.Trp4407Arg)
c.13216T>A (p.Trp4406Arg)
c.13198T>A (p.Trp4400Arg)
c.13174T>A (p.Trp4392Arg)
c.13171T>A (p.Trp4391Arg)
c.13168T>A (p.Trp4390Arg)
c.13120T>A (p.Trp4374Arg)
c.13108T>A (p.Trp4370Arg)
c.12970T>A (p.Trp4324Arg)
c.12817T>A (p.Trp4273Arg)
Xg.53534192C>ACA413145515HUWE1c.12621G>T (p.Gln4207His)
c.12837G>T (p.Gln4279His)
c.3304G>T
n.150G>T
c.12810G>T (p.Gln4270His)
c.13086G>T (p.Gln4362His)
c.13083G>T (p.Gln4361His)
c.13041G>T (p.Gln4347His)
c.13038G>T (p.Gln4346His)
c.13035G>T (p.Gln4345His)
c.12987G>T (p.Gln4329His)
c.12684G>T (p.Gln4228His)
c.13218G>T (p.Gln4406His)
c.13215G>T (p.Gln4405His)
c.13197G>T (p.Gln4399His)
c.13173G>T (p.Gln4391His)
c.13170G>T (p.Gln4390His)
c.13167G>T (p.Gln4389His)
c.13119G>T (p.Gln4373His)
c.13107G>T (p.Gln4369His)
c.12969G>T (p.Gln4323His)
c.12816G>T (p.Gln4272His)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534192C=CA2429868930HUWE1c.12621G= (p.Gln4207=)
c.12837G= (p.Gln4279=)
c.3304G=
n.150G=
c.12810G= (p.Gln4270=)
c.13086G= (p.Gln4362=)
c.13083G= (p.Gln4361=)
c.13041G= (p.Gln4347=)
c.13038G= (p.Gln4346=)
c.13035G= (p.Gln4345=)
c.12987G= (p.Gln4329=)
c.12684G= (p.Gln4228=)
c.13218G= (p.Gln4406=)
c.13215G= (p.Gln4405=)
c.13197G= (p.Gln4399=)
c.13173G= (p.Gln4391=)
c.13170G= (p.Gln4390=)
c.13167G= (p.Gln4389=)
c.13119G= (p.Gln4373=)
c.13107G= (p.Gln4369=)
c.12969G= (p.Gln4323=)
c.12816G= (p.Gln4272=)
Xg.53534192C>GCA413145521HUWE1c.12621G>C (p.Gln4207His)
c.12837G>C (p.Gln4279His)
c.3304G>C
n.150G>C
c.12810G>C (p.Gln4270His)
c.13086G>C (p.Gln4362His)
c.13083G>C (p.Gln4361His)
c.13041G>C (p.Gln4347His)
c.13038G>C (p.Gln4346His)
c.13035G>C (p.Gln4345His)
c.12987G>C (p.Gln4329His)
c.12684G>C (p.Gln4228His)
c.13218G>C (p.Gln4406His)
c.13215G>C (p.Gln4405His)
c.13197G>C (p.Gln4399His)
c.13173G>C (p.Gln4391His)
c.13170G>C (p.Gln4390His)
c.13167G>C (p.Gln4389His)
c.13119G>C (p.Gln4373His)
c.13107G>C (p.Gln4369His)
c.12969G>C (p.Gln4323His)
c.12816G>C (p.Gln4272His)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534192C>TCA516420069HUWE1c.12621G>A (p.Gln4207=)
c.12837G>A (p.Gln4279=)
c.3304G>A
n.150G>A
c.12810G>A (p.Gln4270=)
c.13086G>A (p.Gln4362=)
c.13083G>A (p.Gln4361=)
c.13041G>A (p.Gln4347=)
c.13038G>A (p.Gln4346=)
c.13035G>A (p.Gln4345=)
c.12987G>A (p.Gln4329=)
c.12684G>A (p.Gln4228=)
c.13218G>A (p.Gln4406=)
c.13215G>A (p.Gln4405=)
c.13197G>A (p.Gln4399=)
c.13173G>A (p.Gln4391=)
c.13170G>A (p.Gln4390=)
c.13167G>A (p.Gln4389=)
c.13119G>A (p.Gln4373=)
c.13107G>A (p.Gln4369=)
c.12969G>A (p.Gln4323=)
c.12816G>A (p.Gln4272=)
Xg.53534193T>ACA413145529HUWE1c.12620A>T (p.Gln4207Leu)
c.12836A>T (p.Gln4279Leu)
c.3303A>T
n.149A>T
c.12809A>T (p.Gln4270Leu)
c.13085A>T (p.Gln4362Leu)
c.13082A>T (p.Gln4361Leu)
c.13040A>T (p.Gln4347Leu)
c.13037A>T (p.Gln4346Leu)
c.13034A>T (p.Gln4345Leu)
c.12986A>T (p.Gln4329Leu)
c.12683A>T (p.Gln4228Leu)
c.13217A>T (p.Gln4406Leu)
c.13214A>T (p.Gln4405Leu)
c.13196A>T (p.Gln4399Leu)
c.13172A>T (p.Gln4391Leu)
c.13169A>T (p.Gln4390Leu)
c.13166A>T (p.Gln4389Leu)
c.13118A>T (p.Gln4373Leu)
c.13106A>T (p.Gln4369Leu)
c.12968A>T (p.Gln4323Leu)
c.12815A>T (p.Gln4272Leu)
Xg.53534193T>CCA413145532HUWE1c.12620A>G (p.Gln4207Arg)
c.12836A>G (p.Gln4279Arg)
c.3303A>G
n.149A>G
c.12809A>G (p.Gln4270Arg)
c.13085A>G (p.Gln4362Arg)
c.13082A>G (p.Gln4361Arg)
c.13040A>G (p.Gln4347Arg)
c.13037A>G (p.Gln4346Arg)
c.13034A>G (p.Gln4345Arg)
c.12986A>G (p.Gln4329Arg)
c.12683A>G (p.Gln4228Arg)
c.13217A>G (p.Gln4406Arg)
c.13214A>G (p.Gln4405Arg)
c.13196A>G (p.Gln4399Arg)
c.13172A>G (p.Gln4391Arg)
c.13169A>G (p.Gln4390Arg)
c.13166A>G (p.Gln4389Arg)
c.13118A>G (p.Gln4373Arg)
c.13106A>G (p.Gln4369Arg)
c.12968A>G (p.Gln4323Arg)
c.12815A>G (p.Gln4272Arg)
Xg.53534193T>GCA413145534HUWE1c.12620A>C (p.Gln4207Pro)
c.12836A>C (p.Gln4279Pro)
c.3303A>C
n.149A>C
c.12809A>C (p.Gln4270Pro)
c.13085A>C (p.Gln4362Pro)
c.13082A>C (p.Gln4361Pro)
c.13040A>C (p.Gln4347Pro)
c.13037A>C (p.Gln4346Pro)
c.13034A>C (p.Gln4345Pro)
c.12986A>C (p.Gln4329Pro)
c.12683A>C (p.Gln4228Pro)
c.13217A>C (p.Gln4406Pro)
c.13214A>C (p.Gln4405Pro)
c.13196A>C (p.Gln4399Pro)
c.13172A>C (p.Gln4391Pro)
c.13169A>C (p.Gln4390Pro)
c.13166A>C (p.Gln4389Pro)
c.13118A>C (p.Gln4373Pro)
c.13106A>C (p.Gln4369Pro)
c.12968A>C (p.Gln4323Pro)
c.12815A>C (p.Gln4272Pro)
Xg.53534194G>ACA413145538HUWE1c.12619C>T (p.Gln4207Ter)
c.12835C>T (p.Gln4279Ter)
c.3302C>T
n.148C>T
c.12808C>T (p.Gln4270Ter)
c.13084C>T (p.Gln4362Ter)
c.13081C>T (p.Gln4361Ter)
c.13039C>T (p.Gln4347Ter)
c.13036C>T (p.Gln4346Ter)
c.13033C>T (p.Gln4345Ter)
c.12985C>T (p.Gln4329Ter)
c.12682C>T (p.Gln4228Ter)
c.13216C>T (p.Gln4406Ter)
c.13213C>T (p.Gln4405Ter)
c.13195C>T (p.Gln4399Ter)
c.13171C>T (p.Gln4391Ter)
c.13168C>T (p.Gln4390Ter)
c.13165C>T (p.Gln4389Ter)
c.13117C>T (p.Gln4373Ter)
c.13105C>T (p.Gln4369Ter)
c.12967C>T (p.Gln4323Ter)
c.12814C>T (p.Gln4272Ter)
Xg.53534194G>CCA413145541HUWE1c.12619C>G (p.Gln4207Glu)
c.12835C>G (p.Gln4279Glu)
c.3302C>G
n.148C>G
c.12808C>G (p.Gln4270Glu)
c.13084C>G (p.Gln4362Glu)
c.13081C>G (p.Gln4361Glu)
c.13039C>G (p.Gln4347Glu)
c.13036C>G (p.Gln4346Glu)
c.13033C>G (p.Gln4345Glu)
c.12985C>G (p.Gln4329Glu)
c.12682C>G (p.Gln4228Glu)
c.13216C>G (p.Gln4406Glu)
c.13213C>G (p.Gln4405Glu)
c.13195C>G (p.Gln4399Glu)
c.13171C>G (p.Gln4391Glu)
c.13168C>G (p.Gln4390Glu)
c.13165C>G (p.Gln4389Glu)
c.13117C>G (p.Gln4373Glu)
c.13105C>G (p.Gln4369Glu)
c.12967C>G (p.Gln4323Glu)
c.12814C>G (p.Gln4272Glu)
Xg.53534194G=CA2429868931HUWE1c.12619C= (p.Gln4207=)
c.12835C= (p.Gln4279=)
c.3302C=
n.148C=
c.12808C= (p.Gln4270=)
c.13084C= (p.Gln4362=)
c.13081C= (p.Gln4361=)
c.13039C= (p.Gln4347=)
c.13036C= (p.Gln4346=)
c.13033C= (p.Gln4345=)
c.12985C= (p.Gln4329=)
c.12682C= (p.Gln4228=)
c.13216C= (p.Gln4406=)
c.13213C= (p.Gln4405=)
c.13195C= (p.Gln4399=)
c.13171C= (p.Gln4391=)
c.13168C= (p.Gln4390=)
c.13165C= (p.Gln4389=)
c.13117C= (p.Gln4373=)
c.13105C= (p.Gln4369=)
c.12967C= (p.Gln4323=)
c.12814C= (p.Gln4272=)
Xg.53534194G>TCA413145546HUWE1c.12619C>A (p.Gln4207Lys)
c.12835C>A (p.Gln4279Lys)
c.3302C>A
n.148C>A
c.12808C>A (p.Gln4270Lys)
c.13084C>A (p.Gln4362Lys)
c.13081C>A (p.Gln4361Lys)
c.13039C>A (p.Gln4347Lys)
c.13036C>A (p.Gln4346Lys)
c.13033C>A (p.Gln4345Lys)
c.12985C>A (p.Gln4329Lys)
c.12682C>A (p.Gln4228Lys)
c.13216C>A (p.Gln4406Lys)
c.13213C>A (p.Gln4405Lys)
c.13195C>A (p.Gln4399Lys)
c.13171C>A (p.Gln4391Lys)
c.13168C>A (p.Gln4390Lys)
c.13165C>A (p.Gln4389Lys)
c.13117C>A (p.Gln4373Lys)
c.13105C>A (p.Gln4369Lys)
c.12967C>A (p.Gln4323Lys)
c.12814C>A (p.Gln4272Lys)
 dbSNP
Xg.53534195G>ACA516420078HUWE1c.12618C>T (p.Ile4206=)
c.12834C>T (p.Ile4278=)
c.3301C>T
n.147C>T
c.12807C>T (p.Ile4269=)
c.13083C>T (p.Ile4361=)
c.13080C>T (p.Ile4360=)
c.13038C>T (p.Ile4346=)
c.13035C>T (p.Ile4345=)
c.13032C>T (p.Ile4344=)
c.12984C>T (p.Ile4328=)
c.12681C>T (p.Ile4227=)
c.13215C>T (p.Ile4405=)
c.13212C>T (p.Ile4404=)
c.13194C>T (p.Ile4398=)
c.13170C>T (p.Ile4390=)
c.13167C>T (p.Ile4389=)
c.13164C>T (p.Ile4388=)
c.13116C>T (p.Ile4372=)
c.13104C>T (p.Ile4368=)
c.12966C>T (p.Ile4322=)
c.12813C>T (p.Ile4271=)
Xg.53534195G>CCA413145549HUWE1c.12618C>G (p.Ile4206Met)
c.12834C>G (p.Ile4278Met)
c.3301C>G
n.147C>G
c.12807C>G (p.Ile4269Met)
c.13083C>G (p.Ile4361Met)
c.13080C>G (p.Ile4360Met)
c.13038C>G (p.Ile4346Met)
c.13035C>G (p.Ile4345Met)
c.13032C>G (p.Ile4344Met)
c.12984C>G (p.Ile4328Met)
c.12681C>G (p.Ile4227Met)
c.13215C>G (p.Ile4405Met)
c.13212C>G (p.Ile4404Met)
c.13194C>G (p.Ile4398Met)
c.13170C>G (p.Ile4390Met)
c.13167C>G (p.Ile4389Met)
c.13164C>G (p.Ile4388Met)
c.13116C>G (p.Ile4372Met)
c.13104C>G (p.Ile4368Met)
c.12966C>G (p.Ile4322Met)
c.12813C>G (p.Ile4271Met)
Xg.53534195G>TCA516420080HUWE1c.12618C>A (p.Ile4206=)
c.12834C>A (p.Ile4278=)
c.3301C>A
n.147C>A
c.12807C>A (p.Ile4269=)
c.13083C>A (p.Ile4361=)
c.13080C>A (p.Ile4360=)
c.13038C>A (p.Ile4346=)
c.13035C>A (p.Ile4345=)
c.13032C>A (p.Ile4344=)
c.12984C>A (p.Ile4328=)
c.12681C>A (p.Ile4227=)
c.13215C>A (p.Ile4405=)
c.13212C>A (p.Ile4404=)
c.13194C>A (p.Ile4398=)
c.13170C>A (p.Ile4390=)
c.13167C>A (p.Ile4389=)
c.13164C>A (p.Ile4388=)
c.13116C>A (p.Ile4372=)
c.13104C>A (p.Ile4368=)
c.12966C>A (p.Ile4322=)
c.12813C>A (p.Ile4271=)
 gnomAD v4
Xg.53534196A>CCA413145552HUWE1c.12617T>G (p.Ile4206Ser)
c.12833T>G (p.Ile4278Ser)
c.3300T>G
n.146T>G
c.12806T>G (p.Ile4269Ser)
c.13082T>G (p.Ile4361Ser)
c.13079T>G (p.Ile4360Ser)
c.13037T>G (p.Ile4346Ser)
c.13034T>G (p.Ile4345Ser)
c.13031T>G (p.Ile4344Ser)
c.12983T>G (p.Ile4328Ser)
c.12680T>G (p.Ile4227Ser)
c.13214T>G (p.Ile4405Ser)
c.13211T>G (p.Ile4404Ser)
c.13193T>G (p.Ile4398Ser)
c.13169T>G (p.Ile4390Ser)
c.13166T>G (p.Ile4389Ser)
c.13163T>G (p.Ile4388Ser)
c.13115T>G (p.Ile4372Ser)
c.13103T>G (p.Ile4368Ser)
c.12965T>G (p.Ile4322Ser)
c.12812T>G (p.Ile4271Ser)
Xg.53534196A>GCA413145555HUWE1c.12617T>C (p.Ile4206Thr)
c.12833T>C (p.Ile4278Thr)
c.3300T>C
n.146T>C
c.12806T>C (p.Ile4269Thr)
c.13082T>C (p.Ile4361Thr)
c.13079T>C (p.Ile4360Thr)
c.13037T>C (p.Ile4346Thr)
c.13034T>C (p.Ile4345Thr)
c.13031T>C (p.Ile4344Thr)
c.12983T>C (p.Ile4328Thr)
c.12680T>C (p.Ile4227Thr)
c.13214T>C (p.Ile4405Thr)
c.13211T>C (p.Ile4404Thr)
c.13193T>C (p.Ile4398Thr)
c.13169T>C (p.Ile4390Thr)
c.13166T>C (p.Ile4389Thr)
c.13163T>C (p.Ile4388Thr)
c.13115T>C (p.Ile4372Thr)
c.13103T>C (p.Ile4368Thr)
c.12965T>C (p.Ile4322Thr)
c.12812T>C (p.Ile4271Thr)
Xg.53534196A>TCA413145560HUWE1c.12617T>A (p.Ile4206Asn)
c.12833T>A (p.Ile4278Asn)
c.3300T>A
n.146T>A
c.12806T>A (p.Ile4269Asn)
c.13082T>A (p.Ile4361Asn)
c.13079T>A (p.Ile4360Asn)
c.13037T>A (p.Ile4346Asn)
c.13034T>A (p.Ile4345Asn)
c.13031T>A (p.Ile4344Asn)
c.12983T>A (p.Ile4328Asn)
c.12680T>A (p.Ile4227Asn)
c.13214T>A (p.Ile4405Asn)
c.13211T>A (p.Ile4404Asn)
c.13193T>A (p.Ile4398Asn)
c.13169T>A (p.Ile4390Asn)
c.13166T>A (p.Ile4389Asn)
c.13163T>A (p.Ile4388Asn)
c.13115T>A (p.Ile4372Asn)
c.13103T>A (p.Ile4368Asn)
c.12965T>A (p.Ile4322Asn)
c.12812T>A (p.Ile4271Asn)
Xg.53534197T>ACA413145562HUWE1c.12616A>T (p.Ile4206Phe)
c.12832A>T (p.Ile4278Phe)
c.3299A>T
n.145A>T
c.12805A>T (p.Ile4269Phe)
c.13081A>T (p.Ile4361Phe)
c.13078A>T (p.Ile4360Phe)
c.13036A>T (p.Ile4346Phe)
c.13033A>T (p.Ile4345Phe)
c.13030A>T (p.Ile4344Phe)
c.12982A>T (p.Ile4328Phe)
c.12679A>T (p.Ile4227Phe)
c.13213A>T (p.Ile4405Phe)
c.13210A>T (p.Ile4404Phe)
c.13192A>T (p.Ile4398Phe)
c.13168A>T (p.Ile4390Phe)
c.13165A>T (p.Ile4389Phe)
c.13162A>T (p.Ile4388Phe)
c.13114A>T (p.Ile4372Phe)
c.13102A>T (p.Ile4368Phe)
c.12964A>T (p.Ile4322Phe)
c.12811A>T (p.Ile4271Phe)
Xg.53534197T>CCA413145563HUWE1c.12616A>G (p.Ile4206Val)
c.12832A>G (p.Ile4278Val)
c.3299A>G
n.145A>G
c.12805A>G (p.Ile4269Val)
c.13081A>G (p.Ile4361Val)
c.13078A>G (p.Ile4360Val)
c.13036A>G (p.Ile4346Val)
c.13033A>G (p.Ile4345Val)
c.13030A>G (p.Ile4344Val)
c.12982A>G (p.Ile4328Val)
c.12679A>G (p.Ile4227Val)
c.13213A>G (p.Ile4405Val)
c.13210A>G (p.Ile4404Val)
c.13192A>G (p.Ile4398Val)
c.13168A>G (p.Ile4390Val)
c.13165A>G (p.Ile4389Val)
c.13162A>G (p.Ile4388Val)
c.13114A>G (p.Ile4372Val)
c.13102A>G (p.Ile4368Val)
c.12964A>G (p.Ile4322Val)
c.12811A>G (p.Ile4271Val)
Xg.53534197T>GCA413145561HUWE1c.12616A>C (p.Ile4206Leu)
c.12832A>C (p.Ile4278Leu)
c.3299A>C
n.145A>C
c.12805A>C (p.Ile4269Leu)
c.13081A>C (p.Ile4361Leu)
c.13078A>C (p.Ile4360Leu)
c.13036A>C (p.Ile4346Leu)
c.13033A>C (p.Ile4345Leu)
c.13030A>C (p.Ile4344Leu)
c.12982A>C (p.Ile4328Leu)
c.12679A>C (p.Ile4227Leu)
c.13213A>C (p.Ile4405Leu)
c.13210A>C (p.Ile4404Leu)
c.13192A>C (p.Ile4398Leu)
c.13168A>C (p.Ile4390Leu)
c.13165A>C (p.Ile4389Leu)
c.13162A>C (p.Ile4388Leu)
c.13114A>C (p.Ile4372Leu)
c.13102A>C (p.Ile4368Leu)
c.12964A>C (p.Ile4322Leu)
c.12811A>C (p.Ile4271Leu)
Xg.53534198C>ACA413145566HUWE1c.12616-1G>T (n.12616-1G>T)
c.12832-1G>T (n.12832-1G>T)
c.3299-1G>T
n.145-1G>T
c.12805-1G>T (n.12805-1G>T)
c.13081-1G>T (n.13081-1G>T)
c.13078-1G>T (n.13078-1G>T)
c.13036-1G>T (n.13036-1G>T)
c.13033-1G>T (n.13033-1G>T)
c.13030-1G>T (n.13030-1G>T)
c.12982-1G>T (n.12982-1G>T)
c.12679-1G>T (n.12679-1G>T)
c.13213-1G>T (n.13213-1G>T)
c.13210-1G>T (n.13210-1G>T)
c.13192-1G>T (n.13192-1G>T)
c.13168-1G>T (n.13168-1G>T)
c.13165-1G>T (n.13165-1G>T)
c.13162-1G>T (n.13162-1G>T)
c.13114-1G>T (n.13114-1G>T)
c.13102-1G>T (n.13102-1G>T)
c.12964-1G>T (n.12964-1G>T)
c.12811-1G>T (n.12811-1G>T)
Xg.53534198C>GCA413145567HUWE1c.12616-1G>C (n.12616-1G>C)
c.12832-1G>C (n.12832-1G>C)
c.3299-1G>C
n.145-1G>C
c.12805-1G>C (n.12805-1G>C)
c.13081-1G>C (n.13081-1G>C)
c.13078-1G>C (n.13078-1G>C)
c.13036-1G>C (n.13036-1G>C)
c.13033-1G>C (n.13033-1G>C)
c.13030-1G>C (n.13030-1G>C)
c.12982-1G>C (n.12982-1G>C)
c.12679-1G>C (n.12679-1G>C)
c.13213-1G>C (n.13213-1G>C)
c.13210-1G>C (n.13210-1G>C)
c.13192-1G>C (n.13192-1G>C)
c.13168-1G>C (n.13168-1G>C)
c.13165-1G>C (n.13165-1G>C)
c.13162-1G>C (n.13162-1G>C)
c.13114-1G>C (n.13114-1G>C)
c.13102-1G>C (n.13102-1G>C)
c.12964-1G>C (n.12964-1G>C)
c.12811-1G>C (n.12811-1G>C)
 gnomAD v4
Xg.53534198C>TCA413145570HUWE1c.12616-1G>A (n.12616-1G>A)
c.12832-1G>A (n.12832-1G>A)
c.3299-1G>A
n.145-1G>A
c.12805-1G>A (n.12805-1G>A)
c.13081-1G>A (n.13081-1G>A)
c.13078-1G>A (n.13078-1G>A)
c.13036-1G>A (n.13036-1G>A)
c.13033-1G>A (n.13033-1G>A)
c.13030-1G>A (n.13030-1G>A)
c.12982-1G>A (n.12982-1G>A)
c.12679-1G>A (n.12679-1G>A)
c.13213-1G>A (n.13213-1G>A)
c.13210-1G>A (n.13210-1G>A)
c.13192-1G>A (n.13192-1G>A)
c.13168-1G>A (n.13168-1G>A)
c.13165-1G>A (n.13165-1G>A)
c.13162-1G>A (n.13162-1G>A)
c.13114-1G>A (n.13114-1G>A)
c.13102-1G>A (n.13102-1G>A)
c.12964-1G>A (n.12964-1G>A)
c.12811-1G>A (n.12811-1G>A)
Xg.53534199T>ACA413145575HUWE1c.12616-2A>T (n.12616-2A>T)
c.12832-2A>T (n.12832-2A>T)
c.3299-2A>T
n.145-2A>T
c.12805-2A>T (n.12805-2A>T)
c.13081-2A>T (n.13081-2A>T)
c.13078-2A>T (n.13078-2A>T)
c.13036-2A>T (n.13036-2A>T)
c.13033-2A>T (n.13033-2A>T)
c.13030-2A>T (n.13030-2A>T)
c.12982-2A>T (n.12982-2A>T)
c.12679-2A>T (n.12679-2A>T)
c.13213-2A>T (n.13213-2A>T)
c.13210-2A>T (n.13210-2A>T)
c.13192-2A>T (n.13192-2A>T)
c.13168-2A>T (n.13168-2A>T)
c.13165-2A>T (n.13165-2A>T)
c.13162-2A>T (n.13162-2A>T)
c.13114-2A>T (n.13114-2A>T)
c.13102-2A>T (n.13102-2A>T)
c.12964-2A>T (n.12964-2A>T)
c.12811-2A>T (n.12811-2A>T)
Xg.53534199T>CCA413145578HUWE1c.12616-2A>G (n.12616-2A>G)
c.12832-2A>G (n.12832-2A>G)
c.3299-2A>G
n.145-2A>G
c.12805-2A>G (n.12805-2A>G)
c.13081-2A>G (n.13081-2A>G)
c.13078-2A>G (n.13078-2A>G)
c.13036-2A>G (n.13036-2A>G)
c.13033-2A>G (n.13033-2A>G)
c.13030-2A>G (n.13030-2A>G)
c.12982-2A>G (n.12982-2A>G)
c.12679-2A>G (n.12679-2A>G)
c.13213-2A>G (n.13213-2A>G)
c.13210-2A>G (n.13210-2A>G)
c.13192-2A>G (n.13192-2A>G)
c.13168-2A>G (n.13168-2A>G)
c.13165-2A>G (n.13165-2A>G)
c.13162-2A>G (n.13162-2A>G)
c.13114-2A>G (n.13114-2A>G)
c.13102-2A>G (n.13102-2A>G)
c.12964-2A>G (n.12964-2A>G)
c.12811-2A>G (n.12811-2A>G)
Xg.53534199T>GCA413145580HUWE1c.12616-2A>C (n.12616-2A>C)
c.12832-2A>C (n.12832-2A>C)
c.3299-2A>C
n.145-2A>C
c.12805-2A>C (n.12805-2A>C)
c.13081-2A>C (n.13081-2A>C)
c.13078-2A>C (n.13078-2A>C)
c.13036-2A>C (n.13036-2A>C)
c.13033-2A>C (n.13033-2A>C)
c.13030-2A>C (n.13030-2A>C)
c.12982-2A>C (n.12982-2A>C)
c.12679-2A>C (n.12679-2A>C)
c.13213-2A>C (n.13213-2A>C)
c.13210-2A>C (n.13210-2A>C)
c.13192-2A>C (n.13192-2A>C)
c.13168-2A>C (n.13168-2A>C)
c.13165-2A>C (n.13165-2A>C)
c.13162-2A>C (n.13162-2A>C)
c.13114-2A>C (n.13114-2A>C)
c.13102-2A>C (n.13102-2A>C)
c.12964-2A>C (n.12964-2A>C)
c.12811-2A>C (n.12811-2A>C)
Xg.53534200G>ACA641904117HUWE1c.12616-3C>T (n.12616-3C>T)
c.12832-3C>T (n.12832-3C>T)
c.3299-3C>T
n.145-3C>T
c.12805-3C>T (n.12805-3C>T)
c.13081-3C>T (n.13081-3C>T)
c.13078-3C>T (n.13078-3C>T)
c.13036-3C>T (n.13036-3C>T)
c.13033-3C>T (n.13033-3C>T)
c.13030-3C>T (n.13030-3C>T)
c.12982-3C>T (n.12982-3C>T)
c.12679-3C>T (n.12679-3C>T)
c.13213-3C>T (n.13213-3C>T)
c.13210-3C>T (n.13210-3C>T)
c.13192-3C>T (n.13192-3C>T)
c.13168-3C>T (n.13168-3C>T)
c.13165-3C>T (n.13165-3C>T)
c.13162-3C>T (n.13162-3C>T)
c.13114-3C>T (n.13114-3C>T)
c.13102-3C>T (n.13102-3C>T)
c.12964-3C>T (n.12964-3C>T)
c.12811-3C>T (n.12811-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534200G=CA2429868932HUWE1c.12616-3C= (n.12616-3C=)
c.12832-3C= (n.12832-3C=)
c.3299-3C=
n.145-3C=
c.12805-3C= (n.12805-3C=)
c.13081-3C= (n.13081-3C=)
c.13078-3C= (n.13078-3C=)
c.13036-3C= (n.13036-3C=)
c.13033-3C= (n.13033-3C=)
c.13030-3C= (n.13030-3C=)
c.12982-3C= (n.12982-3C=)
c.12679-3C= (n.12679-3C=)
c.13213-3C= (n.13213-3C=)
c.13210-3C= (n.13210-3C=)
c.13192-3C= (n.13192-3C=)
c.13168-3C= (n.13168-3C=)
c.13165-3C= (n.13165-3C=)
c.13162-3C= (n.13162-3C=)
c.13114-3C= (n.13114-3C=)
c.13102-3C= (n.13102-3C=)
c.12964-3C= (n.12964-3C=)
c.12811-3C= (n.12811-3C=)
Xg.53534200_53534201insAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGACA2738600963HUWE1c.12616-4_12616-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12616-4_12616-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.12832-4_12832-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12832-4_12832-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.3299-4_3299-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT
n.145-4_145-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT
c.12805-4_12805-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12805-4_12805-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13081-4_13081-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13081-4_13081-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13078-4_13078-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13078-4_13078-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13036-4_13036-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13036-4_13036-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13033-4_13033-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13033-4_13033-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13030-4_13030-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13030-4_13030-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.12982-4_12982-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12982-4_12982-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.12679-4_12679-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12679-4_12679-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13213-4_13213-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13213-4_13213-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13210-4_13210-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13210-4_13210-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13192-4_13192-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13192-4_13192-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13168-4_13168-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13168-4_13168-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13165-4_13165-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13165-4_13165-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13162-4_13162-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13162-4_13162-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13114-4_13114-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13114-4_13114-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.13102-4_13102-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.13102-4_13102-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.12964-4_12964-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12964-4_12964-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
c.12811-4_12811-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT (n.12811-4_12811-3insTCTGAAATCCAACACTGAATACCACAAGTACCAGTCCAACTCTATT)
 dbSNP
Xg.53534201T>CCA876298907HUWE1c.12616-4A>G (n.12616-4A>G)
c.12832-4A>G (n.12832-4A>G)
c.3299-4A>G
n.145-4A>G
c.12805-4A>G (n.12805-4A>G)
c.13081-4A>G (n.13081-4A>G)
c.13078-4A>G (n.13078-4A>G)
c.13036-4A>G (n.13036-4A>G)
c.13033-4A>G (n.13033-4A>G)
c.13030-4A>G (n.13030-4A>G)
c.12982-4A>G (n.12982-4A>G)
c.12679-4A>G (n.12679-4A>G)
c.13213-4A>G (n.13213-4A>G)
c.13210-4A>G (n.13210-4A>G)
c.13192-4A>G (n.13192-4A>G)
c.13168-4A>G (n.13168-4A>G)
c.13165-4A>G (n.13165-4A>G)
c.13162-4A>G (n.13162-4A>G)
c.13114-4A>G (n.13114-4A>G)
c.13102-4A>G (n.13102-4A>G)
c.12964-4A>G (n.12964-4A>G)
c.12811-4A>G (n.12811-4A>G)
 ClinVar dbSNP
Xg.53534201T>GCA2579616518HUWE1c.12616-4A>C (n.12616-4A>C)
c.12832-4A>C (n.12832-4A>C)
c.3299-4A>C
n.145-4A>C
c.12805-4A>C (n.12805-4A>C)
c.13081-4A>C (n.13081-4A>C)
c.13078-4A>C (n.13078-4A>C)
c.13036-4A>C (n.13036-4A>C)
c.13033-4A>C (n.13033-4A>C)
c.13030-4A>C (n.13030-4A>C)
c.12982-4A>C (n.12982-4A>C)
c.12679-4A>C (n.12679-4A>C)
c.13213-4A>C (n.13213-4A>C)
c.13210-4A>C (n.13210-4A>C)
c.13192-4A>C (n.13192-4A>C)
c.13168-4A>C (n.13168-4A>C)
c.13165-4A>C (n.13165-4A>C)
c.13162-4A>C (n.13162-4A>C)
c.13114-4A>C (n.13114-4A>C)
c.13102-4A>C (n.13102-4A>C)
c.12964-4A>C (n.12964-4A>C)
c.12811-4A>C (n.12811-4A>C)
Xg.53534201T=CA2429868933HUWE1c.12616-4A= (n.12616-4A=)
c.12832-4A= (n.12832-4A=)
c.3299-4A=
n.145-4A=
c.12805-4A= (n.12805-4A=)
c.13081-4A= (n.13081-4A=)
c.13078-4A= (n.13078-4A=)
c.13036-4A= (n.13036-4A=)
c.13033-4A= (n.13033-4A=)
c.13030-4A= (n.13030-4A=)
c.12982-4A= (n.12982-4A=)
c.12679-4A= (n.12679-4A=)
c.13213-4A= (n.13213-4A=)
c.13210-4A= (n.13210-4A=)
c.13192-4A= (n.13192-4A=)
c.13168-4A= (n.13168-4A=)
c.13165-4A= (n.13165-4A=)
c.13162-4A= (n.13162-4A=)
c.13114-4A= (n.13114-4A=)
c.13102-4A= (n.13102-4A=)
c.12964-4A= (n.12964-4A=)
c.12811-4A= (n.12811-4A=)
Xg.53534202_53534208delCA2693810245HUWE1c.12616-11_12616-5del (n.12616-11_12616-5del)
c.12832-11_12832-5del (n.12832-11_12832-5del)
c.3299-11_3299-5del
n.145-11_145-5del
c.12805-11_12805-5del (n.12805-11_12805-5del)
c.13081-11_13081-5del (n.13081-11_13081-5del)
c.13078-11_13078-5del (n.13078-11_13078-5del)
c.13036-11_13036-5del (n.13036-11_13036-5del)
c.13033-11_13033-5del (n.13033-11_13033-5del)
c.13030-11_13030-5del (n.13030-11_13030-5del)
c.12982-11_12982-5del (n.12982-11_12982-5del)
c.12679-11_12679-5del (n.12679-11_12679-5del)
c.13213-11_13213-5del (n.13213-11_13213-5del)
c.13210-11_13210-5del (n.13210-11_13210-5del)
c.13192-11_13192-5del (n.13192-11_13192-5del)
c.13168-11_13168-5del (n.13168-11_13168-5del)
c.13165-11_13165-5del (n.13165-11_13165-5del)
c.13162-11_13162-5del (n.13162-11_13162-5del)
c.13114-11_13114-5del (n.13114-11_13114-5del)
c.13102-11_13102-5del (n.13102-11_13102-5del)
c.12964-11_12964-5del (n.12964-11_12964-5del)
c.12811-11_12811-5del (n.12811-11_12811-5del)
 gnomAD v4
Xg.53534204G>TCA2693810246HUWE1c.12616-7C>A (n.12616-7C>A)
c.12832-7C>A (n.12832-7C>A)
c.3299-7C>A
n.145-7C>A
c.12805-7C>A (n.12805-7C>A)
c.13081-7C>A (n.13081-7C>A)
c.13078-7C>A (n.13078-7C>A)
c.13036-7C>A (n.13036-7C>A)
c.13033-7C>A (n.13033-7C>A)
c.13030-7C>A (n.13030-7C>A)
c.12982-7C>A (n.12982-7C>A)
c.12679-7C>A (n.12679-7C>A)
c.13213-7C>A (n.13213-7C>A)
c.13210-7C>A (n.13210-7C>A)
c.13192-7C>A (n.13192-7C>A)
c.13168-7C>A (n.13168-7C>A)
c.13165-7C>A (n.13165-7C>A)
c.13162-7C>A (n.13162-7C>A)
c.13114-7C>A (n.13114-7C>A)
c.13102-7C>A (n.13102-7C>A)
c.12964-7C>A (n.12964-7C>A)
c.12811-7C>A (n.12811-7C>A)
 gnomAD v4
Xg.53534205A=CA2429868934HUWE1c.12616-8T= (n.12616-8T=)
c.12832-8T= (n.12832-8T=)
c.3299-8T=
n.145-8T=
c.12805-8T= (n.12805-8T=)
c.13081-8T= (n.13081-8T=)
c.13078-8T= (n.13078-8T=)
c.13036-8T= (n.13036-8T=)
c.13033-8T= (n.13033-8T=)
c.13030-8T= (n.13030-8T=)
c.12982-8T= (n.12982-8T=)
c.12679-8T= (n.12679-8T=)
c.13213-8T= (n.13213-8T=)
c.13210-8T= (n.13210-8T=)
c.13192-8T= (n.13192-8T=)
c.13168-8T= (n.13168-8T=)
c.13165-8T= (n.13165-8T=)
c.13162-8T= (n.13162-8T=)
c.13114-8T= (n.13114-8T=)
c.13102-8T= (n.13102-8T=)
c.12964-8T= (n.12964-8T=)
c.12811-8T= (n.12811-8T=)
Xg.53534205A>CCA2508916329HUWE1c.12616-8T>G (n.12616-8T>G)
c.12832-8T>G (n.12832-8T>G)
c.3299-8T>G
n.145-8T>G
c.12805-8T>G (n.12805-8T>G)
c.13081-8T>G (n.13081-8T>G)
c.13078-8T>G (n.13078-8T>G)
c.13036-8T>G (n.13036-8T>G)
c.13033-8T>G (n.13033-8T>G)
c.13030-8T>G (n.13030-8T>G)
c.12982-8T>G (n.12982-8T>G)
c.12679-8T>G (n.12679-8T>G)
c.13213-8T>G (n.13213-8T>G)
c.13210-8T>G (n.13210-8T>G)
c.13192-8T>G (n.13192-8T>G)
c.13168-8T>G (n.13168-8T>G)
c.13165-8T>G (n.13165-8T>G)
c.13162-8T>G (n.13162-8T>G)
c.13114-8T>G (n.13114-8T>G)
c.13102-8T>G (n.13102-8T>G)
c.12964-8T>G (n.12964-8T>G)
c.12811-8T>G (n.12811-8T>G)
Xg.53534205A>GCA641904118HUWE1c.12616-8T>C (n.12616-8T>C)
c.12832-8T>C (n.12832-8T>C)
c.3299-8T>C
n.145-8T>C
c.12805-8T>C (n.12805-8T>C)
c.13081-8T>C (n.13081-8T>C)
c.13078-8T>C (n.13078-8T>C)
c.13036-8T>C (n.13036-8T>C)
c.13033-8T>C (n.13033-8T>C)
c.13030-8T>C (n.13030-8T>C)
c.12982-8T>C (n.12982-8T>C)
c.12679-8T>C (n.12679-8T>C)
c.13213-8T>C (n.13213-8T>C)
c.13210-8T>C (n.13210-8T>C)
c.13192-8T>C (n.13192-8T>C)
c.13168-8T>C (n.13168-8T>C)
c.13165-8T>C (n.13165-8T>C)
c.13162-8T>C (n.13162-8T>C)
c.13114-8T>C (n.13114-8T>C)
c.13102-8T>C (n.13102-8T>C)
c.12964-8T>C (n.12964-8T>C)
c.12811-8T>C (n.12811-8T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534206A=CA2429868935HUWE1c.12616-9T= (n.12616-9T=)
c.12832-9T= (n.12832-9T=)
c.3299-9T=
n.145-9T=
c.12805-9T= (n.12805-9T=)
c.13081-9T= (n.13081-9T=)
c.13078-9T= (n.13078-9T=)
c.13036-9T= (n.13036-9T=)
c.13033-9T= (n.13033-9T=)
c.13030-9T= (n.13030-9T=)
c.12982-9T= (n.12982-9T=)
c.12679-9T= (n.12679-9T=)
c.13213-9T= (n.13213-9T=)
c.13210-9T= (n.13210-9T=)
c.13192-9T= (n.13192-9T=)
c.13168-9T= (n.13168-9T=)
c.13165-9T= (n.13165-9T=)
c.13162-9T= (n.13162-9T=)
c.13114-9T= (n.13114-9T=)
c.13102-9T= (n.13102-9T=)
c.12964-9T= (n.12964-9T=)
c.12811-9T= (n.12811-9T=)
Xg.53534206A>GCA876298910HUWE1c.12616-9T>C (n.12616-9T>C)
c.12832-9T>C (n.12832-9T>C)
c.3299-9T>C
n.145-9T>C
c.12805-9T>C (n.12805-9T>C)
c.13081-9T>C (n.13081-9T>C)
c.13078-9T>C (n.13078-9T>C)
c.13036-9T>C (n.13036-9T>C)
c.13033-9T>C (n.13033-9T>C)
c.13030-9T>C (n.13030-9T>C)
c.12982-9T>C (n.12982-9T>C)
c.12679-9T>C (n.12679-9T>C)
c.13213-9T>C (n.13213-9T>C)
c.13210-9T>C (n.13210-9T>C)
c.13192-9T>C (n.13192-9T>C)
c.13168-9T>C (n.13168-9T>C)
c.13165-9T>C (n.13165-9T>C)
c.13162-9T>C (n.13162-9T>C)
c.13114-9T>C (n.13114-9T>C)
c.13102-9T>C (n.13102-9T>C)
c.12964-9T>C (n.12964-9T>C)
c.12811-9T>C (n.12811-9T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534207G>ACA10421122HUWE1c.12616-10C>T (n.12616-10C>T)
c.12832-10C>T (n.12832-10C>T)
c.3299-10C>T
n.145-10C>T
c.12805-10C>T (n.12805-10C>T)
c.13081-10C>T (n.13081-10C>T)
c.13078-10C>T (n.13078-10C>T)
c.13036-10C>T (n.13036-10C>T)
c.13033-10C>T (n.13033-10C>T)
c.13030-10C>T (n.13030-10C>T)
c.12982-10C>T (n.12982-10C>T)
c.12679-10C>T (n.12679-10C>T)
c.13213-10C>T (n.13213-10C>T)
c.13210-10C>T (n.13210-10C>T)
c.13192-10C>T (n.13192-10C>T)
c.13168-10C>T (n.13168-10C>T)
c.13165-10C>T (n.13165-10C>T)
c.13162-10C>T (n.13162-10C>T)
c.13114-10C>T (n.13114-10C>T)
c.13102-10C>T (n.13102-10C>T)
c.12964-10C>T (n.12964-10C>T)
c.12811-10C>T (n.12811-10C>T)
 dbSNP ExAC gnomAD v2
Xg.53534207G=CA2429868936HUWE1c.12616-10C= (n.12616-10C=)
c.12832-10C= (n.12832-10C=)
c.3299-10C=
n.145-10C=
c.12805-10C= (n.12805-10C=)
c.13081-10C= (n.13081-10C=)
c.13078-10C= (n.13078-10C=)
c.13036-10C= (n.13036-10C=)
c.13033-10C= (n.13033-10C=)
c.13030-10C= (n.13030-10C=)
c.12982-10C= (n.12982-10C=)
c.12679-10C= (n.12679-10C=)
c.13213-10C= (n.13213-10C=)
c.13210-10C= (n.13210-10C=)
c.13192-10C= (n.13192-10C=)
c.13168-10C= (n.13168-10C=)
c.13165-10C= (n.13165-10C=)
c.13162-10C= (n.13162-10C=)
c.13114-10C= (n.13114-10C=)
c.13102-10C= (n.13102-10C=)
c.12964-10C= (n.12964-10C=)
c.12811-10C= (n.12811-10C=)
Xg.53534208G>ACA641904119HUWE1c.12616-11C>T (n.12616-11C>T)
c.12832-11C>T (n.12832-11C>T)
c.3299-11C>T
n.145-11C>T
c.12805-11C>T (n.12805-11C>T)
c.13081-11C>T (n.13081-11C>T)
c.13078-11C>T (n.13078-11C>T)
c.13036-11C>T (n.13036-11C>T)
c.13033-11C>T (n.13033-11C>T)
c.13030-11C>T (n.13030-11C>T)
c.12982-11C>T (n.12982-11C>T)
c.12679-11C>T (n.12679-11C>T)
c.13213-11C>T (n.13213-11C>T)
c.13210-11C>T (n.13210-11C>T)
c.13192-11C>T (n.13192-11C>T)
c.13168-11C>T (n.13168-11C>T)
c.13165-11C>T (n.13165-11C>T)
c.13162-11C>T (n.13162-11C>T)
c.13114-11C>T (n.13114-11C>T)
c.13102-11C>T (n.13102-11C>T)
c.12964-11C>T (n.12964-11C>T)
c.12811-11C>T (n.12811-11C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534208G=CA2429868937HUWE1c.12616-11C= (n.12616-11C=)
c.12832-11C= (n.12832-11C=)
c.3299-11C=
n.145-11C=
c.12805-11C= (n.12805-11C=)
c.13081-11C= (n.13081-11C=)
c.13078-11C= (n.13078-11C=)
c.13036-11C= (n.13036-11C=)
c.13033-11C= (n.13033-11C=)
c.13030-11C= (n.13030-11C=)
c.12982-11C= (n.12982-11C=)
c.12679-11C= (n.12679-11C=)
c.13213-11C= (n.13213-11C=)
c.13210-11C= (n.13210-11C=)
c.13192-11C= (n.13192-11C=)
c.13168-11C= (n.13168-11C=)
c.13165-11C= (n.13165-11C=)
c.13162-11C= (n.13162-11C=)
c.13114-11C= (n.13114-11C=)
c.13102-11C= (n.13102-11C=)
c.12964-11C= (n.12964-11C=)
c.12811-11C= (n.12811-11C=)
Xg.53534209G>CCA10421123HUWE1c.12616-12C>G (n.12616-12C>G)
c.12832-12C>G (n.12832-12C>G)
c.3299-12C>G
n.145-12C>G
c.12805-12C>G (n.12805-12C>G)
c.13081-12C>G (n.13081-12C>G)
c.13078-12C>G (n.13078-12C>G)
c.13036-12C>G (n.13036-12C>G)
c.13033-12C>G (n.13033-12C>G)
c.13030-12C>G (n.13030-12C>G)
c.12982-12C>G (n.12982-12C>G)
c.12679-12C>G (n.12679-12C>G)
c.13213-12C>G (n.13213-12C>G)
c.13210-12C>G (n.13210-12C>G)
c.13192-12C>G (n.13192-12C>G)
c.13168-12C>G (n.13168-12C>G)
c.13165-12C>G (n.13165-12C>G)
c.13162-12C>G (n.13162-12C>G)
c.13114-12C>G (n.13114-12C>G)
c.13102-12C>G (n.13102-12C>G)
c.12964-12C>G (n.12964-12C>G)
c.12811-12C>G (n.12811-12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534209G=CA2429868938HUWE1c.12616-12C= (n.12616-12C=)
c.12832-12C= (n.12832-12C=)
c.3299-12C=
n.145-12C=
c.12805-12C= (n.12805-12C=)
c.13081-12C= (n.13081-12C=)
c.13078-12C= (n.13078-12C=)
c.13036-12C= (n.13036-12C=)
c.13033-12C= (n.13033-12C=)
c.13030-12C= (n.13030-12C=)
c.12982-12C= (n.12982-12C=)
c.12679-12C= (n.12679-12C=)
c.13213-12C= (n.13213-12C=)
c.13210-12C= (n.13210-12C=)
c.13192-12C= (n.13192-12C=)
c.13168-12C= (n.13168-12C=)
c.13165-12C= (n.13165-12C=)
c.13162-12C= (n.13162-12C=)
c.13114-12C= (n.13114-12C=)
c.13102-12C= (n.13102-12C=)
c.12964-12C= (n.12964-12C=)
c.12811-12C= (n.12811-12C=)
Xg.53534209_53534238dupCA2693810247HUWE1c.12616-41_12616-12dup (n.12616-41_12616-12dup)
c.12832-41_12832-12dup (n.12832-41_12832-12dup)
c.3299-41_3299-12dup
n.145-41_145-12dup
c.12805-41_12805-12dup (n.12805-41_12805-12dup)
c.13081-41_13081-12dup (n.13081-41_13081-12dup)
c.13078-41_13078-12dup (n.13078-41_13078-12dup)
c.13036-41_13036-12dup (n.13036-41_13036-12dup)
c.13033-41_13033-12dup (n.13033-41_13033-12dup)
c.13030-41_13030-12dup (n.13030-41_13030-12dup)
c.12982-41_12982-12dup (n.12982-41_12982-12dup)
c.12679-41_12679-12dup (n.12679-41_12679-12dup)
c.13213-41_13213-12dup (n.13213-41_13213-12dup)
c.13210-41_13210-12dup (n.13210-41_13210-12dup)
c.13192-41_13192-12dup (n.13192-41_13192-12dup)
c.13168-41_13168-12dup (n.13168-41_13168-12dup)
c.13165-41_13165-12dup (n.13165-41_13165-12dup)
c.13162-41_13162-12dup (n.13162-41_13162-12dup)
c.13114-41_13114-12dup (n.13114-41_13114-12dup)
c.13102-41_13102-12dup (n.13102-41_13102-12dup)
c.12964-41_12964-12dup (n.12964-41_12964-12dup)
c.12811-41_12811-12dup (n.12811-41_12811-12dup)
 gnomAD v4
Xg.53534211C=CA2429868939HUWE1c.12616-14G= (n.12616-14G=)
c.12832-14G= (n.12832-14G=)
c.3299-14G=
n.145-14G=
c.12805-14G= (n.12805-14G=)
c.13081-14G= (n.13081-14G=)
c.13078-14G= (n.13078-14G=)
c.13036-14G= (n.13036-14G=)
c.13033-14G= (n.13033-14G=)
c.13030-14G= (n.13030-14G=)
c.12982-14G= (n.12982-14G=)
c.12679-14G= (n.12679-14G=)
c.13213-14G= (n.13213-14G=)
c.13210-14G= (n.13210-14G=)
c.13192-14G= (n.13192-14G=)
c.13168-14G= (n.13168-14G=)
c.13165-14G= (n.13165-14G=)
c.13162-14G= (n.13162-14G=)
c.13114-14G= (n.13114-14G=)
c.13102-14G= (n.13102-14G=)
c.12964-14G= (n.12964-14G=)
c.12811-14G= (n.12811-14G=)
Xg.53534211C>GCA10421124HUWE1c.12616-14G>C (n.12616-14G>C)
c.12832-14G>C (n.12832-14G>C)
c.3299-14G>C
n.145-14G>C
c.12805-14G>C (n.12805-14G>C)
c.13081-14G>C (n.13081-14G>C)
c.13078-14G>C (n.13078-14G>C)
c.13036-14G>C (n.13036-14G>C)
c.13033-14G>C (n.13033-14G>C)
c.13030-14G>C (n.13030-14G>C)
c.12982-14G>C (n.12982-14G>C)
c.12679-14G>C (n.12679-14G>C)
c.13213-14G>C (n.13213-14G>C)
c.13210-14G>C (n.13210-14G>C)
c.13192-14G>C (n.13192-14G>C)
c.13168-14G>C (n.13168-14G>C)
c.13165-14G>C (n.13165-14G>C)
c.13162-14G>C (n.13162-14G>C)
c.13114-14G>C (n.13114-14G>C)
c.13102-14G>C (n.13102-14G>C)
c.12964-14G>C (n.12964-14G>C)
c.12811-14G>C (n.12811-14G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534211C>TCA2579616519HUWE1c.12616-14G>A (n.12616-14G>A)
c.12832-14G>A (n.12832-14G>A)
c.3299-14G>A
n.145-14G>A
c.12805-14G>A (n.12805-14G>A)
c.13081-14G>A (n.13081-14G>A)
c.13078-14G>A (n.13078-14G>A)
c.13036-14G>A (n.13036-14G>A)
c.13033-14G>A (n.13033-14G>A)
c.13030-14G>A (n.13030-14G>A)
c.12982-14G>A (n.12982-14G>A)
c.12679-14G>A (n.12679-14G>A)
c.13213-14G>A (n.13213-14G>A)
c.13210-14G>A (n.13210-14G>A)
c.13192-14G>A (n.13192-14G>A)
c.13168-14G>A (n.13168-14G>A)
c.13165-14G>A (n.13165-14G>A)
c.13162-14G>A (n.13162-14G>A)
c.13114-14G>A (n.13114-14G>A)
c.13102-14G>A (n.13102-14G>A)
c.12964-14G>A (n.12964-14G>A)
c.12811-14G>A (n.12811-14G>A)
 gnomAD v4
Xg.53534212C>ACA2429868941HUWE1c.12616-15G>T (n.12616-15G>T)
c.12832-15G>T (n.12832-15G>T)
c.3299-15G>T
n.145-15G>T
c.12805-15G>T (n.12805-15G>T)
c.13081-15G>T (n.13081-15G>T)
c.13078-15G>T (n.13078-15G>T)
c.13036-15G>T (n.13036-15G>T)
c.13033-15G>T (n.13033-15G>T)
c.13030-15G>T (n.13030-15G>T)
c.12982-15G>T (n.12982-15G>T)
c.12679-15G>T (n.12679-15G>T)
c.13213-15G>T (n.13213-15G>T)
c.13210-15G>T (n.13210-15G>T)
c.13192-15G>T (n.13192-15G>T)
c.13168-15G>T (n.13168-15G>T)
c.13165-15G>T (n.13165-15G>T)
c.13162-15G>T (n.13162-15G>T)
c.13114-15G>T (n.13114-15G>T)
c.13102-15G>T (n.13102-15G>T)
c.12964-15G>T (n.12964-15G>T)
c.12811-15G>T (n.12811-15G>T)
 dbSNP
Xg.53534212C=CA2429868940HUWE1c.12616-15G= (n.12616-15G=)
c.12832-15G= (n.12832-15G=)
c.3299-15G=
n.145-15G=
c.12805-15G= (n.12805-15G=)
c.13081-15G= (n.13081-15G=)
c.13078-15G= (n.13078-15G=)
c.13036-15G= (n.13036-15G=)
c.13033-15G= (n.13033-15G=)
c.13030-15G= (n.13030-15G=)
c.12982-15G= (n.12982-15G=)
c.12679-15G= (n.12679-15G=)
c.13213-15G= (n.13213-15G=)
c.13210-15G= (n.13210-15G=)
c.13192-15G= (n.13192-15G=)
c.13168-15G= (n.13168-15G=)
c.13165-15G= (n.13165-15G=)
c.13162-15G= (n.13162-15G=)
c.13114-15G= (n.13114-15G=)
c.13102-15G= (n.13102-15G=)
c.12964-15G= (n.12964-15G=)
c.12811-15G= (n.12811-15G=)
Xg.53534212C>GCA876298914HUWE1c.12616-15G>C (n.12616-15G>C)
c.12832-15G>C (n.12832-15G>C)
c.3299-15G>C
n.145-15G>C
c.12805-15G>C (n.12805-15G>C)
c.13081-15G>C (n.13081-15G>C)
c.13078-15G>C (n.13078-15G>C)
c.13036-15G>C (n.13036-15G>C)
c.13033-15G>C (n.13033-15G>C)
c.13030-15G>C (n.13030-15G>C)
c.12982-15G>C (n.12982-15G>C)
c.12679-15G>C (n.12679-15G>C)
c.13213-15G>C (n.13213-15G>C)
c.13210-15G>C (n.13210-15G>C)
c.13192-15G>C (n.13192-15G>C)
c.13168-15G>C (n.13168-15G>C)
c.13165-15G>C (n.13165-15G>C)
c.13162-15G>C (n.13162-15G>C)
c.13114-15G>C (n.13114-15G>C)
c.13102-15G>C (n.13102-15G>C)
c.12964-15G>C (n.12964-15G>C)
c.12811-15G>C (n.12811-15G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534212C>TCA2693810248HUWE1c.12616-15G>A (n.12616-15G>A)
c.12832-15G>A (n.12832-15G>A)
c.3299-15G>A
n.145-15G>A
c.12805-15G>A (n.12805-15G>A)
c.13081-15G>A (n.13081-15G>A)
c.13078-15G>A (n.13078-15G>A)
c.13036-15G>A (n.13036-15G>A)
c.13033-15G>A (n.13033-15G>A)
c.13030-15G>A (n.13030-15G>A)
c.12982-15G>A (n.12982-15G>A)
c.12679-15G>A (n.12679-15G>A)
c.13213-15G>A (n.13213-15G>A)
c.13210-15G>A (n.13210-15G>A)
c.13192-15G>A (n.13192-15G>A)
c.13168-15G>A (n.13168-15G>A)
c.13165-15G>A (n.13165-15G>A)
c.13162-15G>A (n.13162-15G>A)
c.13114-15G>A (n.13114-15G>A)
c.13102-15G>A (n.13102-15G>A)
c.12964-15G>A (n.12964-15G>A)
c.12811-15G>A (n.12811-15G>A)
 gnomAD v4
Xg.53534213C>GCA2738601089HUWE1c.12616-16G>C (n.12616-16G>C)
c.12832-16G>C (n.12832-16G>C)
c.3299-16G>C
n.145-16G>C
c.12805-16G>C (n.12805-16G>C)
c.13081-16G>C (n.13081-16G>C)
c.13078-16G>C (n.13078-16G>C)
c.13036-16G>C (n.13036-16G>C)
c.13033-16G>C (n.13033-16G>C)
c.13030-16G>C (n.13030-16G>C)
c.12982-16G>C (n.12982-16G>C)
c.12679-16G>C (n.12679-16G>C)
c.13213-16G>C (n.13213-16G>C)
c.13210-16G>C (n.13210-16G>C)
c.13192-16G>C (n.13192-16G>C)
c.13168-16G>C (n.13168-16G>C)
c.13165-16G>C (n.13165-16G>C)
c.13162-16G>C (n.13162-16G>C)
c.13114-16G>C (n.13114-16G>C)
c.13102-16G>C (n.13102-16G>C)
c.12964-16G>C (n.12964-16G>C)
c.12811-16G>C (n.12811-16G>C)
 dbSNP
Xg.53534215T>CCA641904120HUWE1c.12616-18A>G (n.12616-18A>G)
c.12832-18A>G (n.12832-18A>G)
c.3299-18A>G
n.145-18A>G
c.12805-18A>G (n.12805-18A>G)
c.13081-18A>G (n.13081-18A>G)
c.13078-18A>G (n.13078-18A>G)
c.13036-18A>G (n.13036-18A>G)
c.13033-18A>G (n.13033-18A>G)
c.13030-18A>G (n.13030-18A>G)
c.12982-18A>G (n.12982-18A>G)
c.12679-18A>G (n.12679-18A>G)
c.13213-18A>G (n.13213-18A>G)
c.13210-18A>G (n.13210-18A>G)
c.13192-18A>G (n.13192-18A>G)
c.13168-18A>G (n.13168-18A>G)
c.13165-18A>G (n.13165-18A>G)
c.13162-18A>G (n.13162-18A>G)
c.13114-18A>G (n.13114-18A>G)
c.13102-18A>G (n.13102-18A>G)
c.12964-18A>G (n.12964-18A>G)
c.12811-18A>G (n.12811-18A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534215T>GCA2820959635HUWE1c.12616-18A>C (n.12616-18A>C)
c.12832-18A>C (n.12832-18A>C)
c.3299-18A>C
n.145-18A>C
c.12805-18A>C (n.12805-18A>C)
c.13081-18A>C (n.13081-18A>C)
c.13078-18A>C (n.13078-18A>C)
c.13036-18A>C (n.13036-18A>C)
c.13033-18A>C (n.13033-18A>C)
c.13030-18A>C (n.13030-18A>C)
c.12982-18A>C (n.12982-18A>C)
c.12679-18A>C (n.12679-18A>C)
c.13213-18A>C (n.13213-18A>C)
c.13210-18A>C (n.13210-18A>C)
c.13192-18A>C (n.13192-18A>C)
c.13168-18A>C (n.13168-18A>C)
c.13165-18A>C (n.13165-18A>C)
c.13162-18A>C (n.13162-18A>C)
c.13114-18A>C (n.13114-18A>C)
c.13102-18A>C (n.13102-18A>C)
c.12964-18A>C (n.12964-18A>C)
c.12811-18A>C (n.12811-18A>C)
Xg.53534215T=CA2429868942HUWE1c.12616-18A= (n.12616-18A=)
c.12832-18A= (n.12832-18A=)
c.3299-18A=
n.145-18A=
c.12805-18A= (n.12805-18A=)
c.13081-18A= (n.13081-18A=)
c.13078-18A= (n.13078-18A=)
c.13036-18A= (n.13036-18A=)
c.13033-18A= (n.13033-18A=)
c.13030-18A= (n.13030-18A=)
c.12982-18A= (n.12982-18A=)
c.12679-18A= (n.12679-18A=)
c.13213-18A= (n.13213-18A=)
c.13210-18A= (n.13210-18A=)
c.13192-18A= (n.13192-18A=)
c.13168-18A= (n.13168-18A=)
c.13165-18A= (n.13165-18A=)
c.13162-18A= (n.13162-18A=)
c.13114-18A= (n.13114-18A=)
c.13102-18A= (n.13102-18A=)
c.12964-18A= (n.12964-18A=)
c.12811-18A= (n.12811-18A=)
Xg.53534216G=CA2429868943HUWE1c.12616-19C= (n.12616-19C=)
c.12832-19C= (n.12832-19C=)
c.3299-19C=
n.145-19C=
c.12805-19C= (n.12805-19C=)
c.13081-19C= (n.13081-19C=)
c.13078-19C= (n.13078-19C=)
c.13036-19C= (n.13036-19C=)
c.13033-19C= (n.13033-19C=)
c.13030-19C= (n.13030-19C=)
c.12982-19C= (n.12982-19C=)
c.12679-19C= (n.12679-19C=)
c.13213-19C= (n.13213-19C=)
c.13210-19C= (n.13210-19C=)
c.13192-19C= (n.13192-19C=)
c.13168-19C= (n.13168-19C=)
c.13165-19C= (n.13165-19C=)
c.13162-19C= (n.13162-19C=)
c.13114-19C= (n.13114-19C=)
c.13102-19C= (n.13102-19C=)
c.12964-19C= (n.12964-19C=)
c.12811-19C= (n.12811-19C=)
Xg.53534216G>TCA2693810249HUWE1c.12616-19C>A (n.12616-19C>A)
c.12832-19C>A (n.12832-19C>A)
c.3299-19C>A
n.145-19C>A
c.12805-19C>A (n.12805-19C>A)
c.13081-19C>A (n.13081-19C>A)
c.13078-19C>A (n.13078-19C>A)
c.13036-19C>A (n.13036-19C>A)
c.13033-19C>A (n.13033-19C>A)
c.13030-19C>A (n.13030-19C>A)
c.12982-19C>A (n.12982-19C>A)
c.12679-19C>A (n.12679-19C>A)
c.13213-19C>A (n.13213-19C>A)
c.13210-19C>A (n.13210-19C>A)
c.13192-19C>A (n.13192-19C>A)
c.13168-19C>A (n.13168-19C>A)
c.13165-19C>A (n.13165-19C>A)
c.13162-19C>A (n.13162-19C>A)
c.13114-19C>A (n.13114-19C>A)
c.13102-19C>A (n.13102-19C>A)
c.12964-19C>A (n.12964-19C>A)
c.12811-19C>A (n.12811-19C>A)
 gnomAD v4

Number of alleles fetched