Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53534039C>ACA413143720HUWE1c.12774G>T (p.Arg4258Ser)
c.12990G>T (p.Arg4330Ser)
c.3457G>T
n.303G>T
c.12963G>T (p.Arg4321Ser)
c.13239G>T (p.Arg4413Ser)
c.13236G>T (p.Arg4412Ser)
c.13194G>T (p.Arg4398Ser)
c.13191G>T (p.Arg4397Ser)
c.13188G>T (p.Arg4396Ser)
c.13140G>T (p.Arg4380Ser)
c.12837G>T (p.Arg4279Ser)
c.13371G>T (p.Arg4457Ser)
c.13368G>T (p.Arg4456Ser)
c.13350G>T (p.Arg4450Ser)
c.13326G>T (p.Arg4442Ser)
c.13323G>T (p.Arg4441Ser)
c.13320G>T (p.Arg4440Ser)
c.13272G>T (p.Arg4424Ser)
c.13260G>T (p.Arg4420Ser)
c.13122G>T (p.Arg4374Ser)
c.12969G>T (p.Arg4323Ser)
Xg.53534039C=CA2429868892HUWE1c.12774G= (p.Arg4258=)
c.12990G= (p.Arg4330=)
c.3457G=
n.303G=
c.12963G= (p.Arg4321=)
c.13239G= (p.Arg4413=)
c.13236G= (p.Arg4412=)
c.13194G= (p.Arg4398=)
c.13191G= (p.Arg4397=)
c.13188G= (p.Arg4396=)
c.13140G= (p.Arg4380=)
c.12837G= (p.Arg4279=)
c.13371G= (p.Arg4457=)
c.13368G= (p.Arg4456=)
c.13350G= (p.Arg4450=)
c.13326G= (p.Arg4442=)
c.13323G= (p.Arg4441=)
c.13320G= (p.Arg4440=)
c.13272G= (p.Arg4424=)
c.13260G= (p.Arg4420=)
c.13122G= (p.Arg4374=)
c.12969G= (p.Arg4323=)
Xg.53534039C>GCA16608949HUWE1c.12774G>C (p.Arg4258Ser)
c.12990G>C (p.Arg4330Ser)
c.3457G>C
n.303G>C
c.12963G>C (p.Arg4321Ser)
c.13239G>C (p.Arg4413Ser)
c.13236G>C (p.Arg4412Ser)
c.13194G>C (p.Arg4398Ser)
c.13191G>C (p.Arg4397Ser)
c.13188G>C (p.Arg4396Ser)
c.13140G>C (p.Arg4380Ser)
c.12837G>C (p.Arg4279Ser)
c.13371G>C (p.Arg4457Ser)
c.13368G>C (p.Arg4456Ser)
c.13350G>C (p.Arg4450Ser)
c.13326G>C (p.Arg4442Ser)
c.13323G>C (p.Arg4441Ser)
c.13320G>C (p.Arg4440Ser)
c.13272G>C (p.Arg4424Ser)
c.13260G>C (p.Arg4420Ser)
c.13122G>C (p.Arg4374Ser)
c.12969G>C (p.Arg4323Ser)
 ClinVar dbSNP
Xg.53534039C>TCA516418363HUWE1c.12774G>A (p.Arg4258=)
c.12990G>A (p.Arg4330=)
c.3457G>A
n.303G>A
c.12963G>A (p.Arg4321=)
c.13239G>A (p.Arg4413=)
c.13236G>A (p.Arg4412=)
c.13194G>A (p.Arg4398=)
c.13191G>A (p.Arg4397=)
c.13188G>A (p.Arg4396=)
c.13140G>A (p.Arg4380=)
c.12837G>A (p.Arg4279=)
c.13371G>A (p.Arg4457=)
c.13368G>A (p.Arg4456=)
c.13350G>A (p.Arg4450=)
c.13326G>A (p.Arg4442=)
c.13323G>A (p.Arg4441=)
c.13320G>A (p.Arg4440=)
c.13272G>A (p.Arg4424=)
c.13260G>A (p.Arg4420=)
c.13122G>A (p.Arg4374=)
c.12969G>A (p.Arg4323=)
Xg.53534040C>ACA413143729HUWE1c.12773G>T (p.Arg4258Met)
c.12989G>T (p.Arg4330Met)
c.3456G>T
n.302G>T
c.12962G>T (p.Arg4321Met)
c.13238G>T (p.Arg4413Met)
c.13235G>T (p.Arg4412Met)
c.13193G>T (p.Arg4398Met)
c.13190G>T (p.Arg4397Met)
c.13187G>T (p.Arg4396Met)
c.13139G>T (p.Arg4380Met)
c.12836G>T (p.Arg4279Met)
c.13370G>T (p.Arg4457Met)
c.13367G>T (p.Arg4456Met)
c.13349G>T (p.Arg4450Met)
c.13325G>T (p.Arg4442Met)
c.13322G>T (p.Arg4441Met)
c.13319G>T (p.Arg4440Met)
c.13271G>T (p.Arg4424Met)
c.13259G>T (p.Arg4420Met)
c.13121G>T (p.Arg4374Met)
c.12968G>T (p.Arg4323Met)
Xg.53534040C>GCA413143732HUWE1c.12773G>C (p.Arg4258Thr)
c.12989G>C (p.Arg4330Thr)
c.3456G>C
n.302G>C
c.12962G>C (p.Arg4321Thr)
c.13238G>C (p.Arg4413Thr)
c.13235G>C (p.Arg4412Thr)
c.13193G>C (p.Arg4398Thr)
c.13190G>C (p.Arg4397Thr)
c.13187G>C (p.Arg4396Thr)
c.13139G>C (p.Arg4380Thr)
c.12836G>C (p.Arg4279Thr)
c.13370G>C (p.Arg4457Thr)
c.13367G>C (p.Arg4456Thr)
c.13349G>C (p.Arg4450Thr)
c.13325G>C (p.Arg4442Thr)
c.13322G>C (p.Arg4441Thr)
c.13319G>C (p.Arg4440Thr)
c.13271G>C (p.Arg4424Thr)
c.13259G>C (p.Arg4420Thr)
c.13121G>C (p.Arg4374Thr)
c.12968G>C (p.Arg4323Thr)
Xg.53534040C>TCA413143742HUWE1c.12773G>A (p.Arg4258Lys)
c.12989G>A (p.Arg4330Lys)
c.3456G>A
n.302G>A
c.12962G>A (p.Arg4321Lys)
c.13238G>A (p.Arg4413Lys)
c.13235G>A (p.Arg4412Lys)
c.13193G>A (p.Arg4398Lys)
c.13190G>A (p.Arg4397Lys)
c.13187G>A (p.Arg4396Lys)
c.13139G>A (p.Arg4380Lys)
c.12836G>A (p.Arg4279Lys)
c.13370G>A (p.Arg4457Lys)
c.13367G>A (p.Arg4456Lys)
c.13349G>A (p.Arg4450Lys)
c.13325G>A (p.Arg4442Lys)
c.13322G>A (p.Arg4441Lys)
c.13319G>A (p.Arg4440Lys)
c.13271G>A (p.Arg4424Lys)
c.13259G>A (p.Arg4420Lys)
c.13121G>A (p.Arg4374Lys)
c.12968G>A (p.Arg4323Lys)
Xg.53534041T>ACA413143746HUWE1c.12772A>T (p.Arg4258Trp)
c.12988A>T (p.Arg4330Trp)
c.3455A>T
n.301A>T
c.12961A>T (p.Arg4321Trp)
c.13237A>T (p.Arg4413Trp)
c.13234A>T (p.Arg4412Trp)
c.13192A>T (p.Arg4398Trp)
c.13189A>T (p.Arg4397Trp)
c.13186A>T (p.Arg4396Trp)
c.13138A>T (p.Arg4380Trp)
c.12835A>T (p.Arg4279Trp)
c.13369A>T (p.Arg4457Trp)
c.13366A>T (p.Arg4456Trp)
c.13348A>T (p.Arg4450Trp)
c.13324A>T (p.Arg4442Trp)
c.13321A>T (p.Arg4441Trp)
c.13318A>T (p.Arg4440Trp)
c.13270A>T (p.Arg4424Trp)
c.13258A>T (p.Arg4420Trp)
c.13120A>T (p.Arg4374Trp)
c.12967A>T (p.Arg4323Trp)
Xg.53534041T>CCA413143747HUWE1c.12772A>G (p.Arg4258Gly)
c.12988A>G (p.Arg4330Gly)
c.3455A>G
n.301A>G
c.12961A>G (p.Arg4321Gly)
c.13237A>G (p.Arg4413Gly)
c.13234A>G (p.Arg4412Gly)
c.13192A>G (p.Arg4398Gly)
c.13189A>G (p.Arg4397Gly)
c.13186A>G (p.Arg4396Gly)
c.13138A>G (p.Arg4380Gly)
c.12835A>G (p.Arg4279Gly)
c.13369A>G (p.Arg4457Gly)
c.13366A>G (p.Arg4456Gly)
c.13348A>G (p.Arg4450Gly)
c.13324A>G (p.Arg4442Gly)
c.13321A>G (p.Arg4441Gly)
c.13318A>G (p.Arg4440Gly)
c.13270A>G (p.Arg4424Gly)
c.13258A>G (p.Arg4420Gly)
c.13120A>G (p.Arg4374Gly)
c.12967A>G (p.Arg4323Gly)
Xg.53534041T>GCA516418397HUWE1c.12772A>C (p.Arg4258=)
c.12988A>C (p.Arg4330=)
c.3455A>C
n.301A>C
c.12961A>C (p.Arg4321=)
c.13237A>C (p.Arg4413=)
c.13234A>C (p.Arg4412=)
c.13192A>C (p.Arg4398=)
c.13189A>C (p.Arg4397=)
c.13186A>C (p.Arg4396=)
c.13138A>C (p.Arg4380=)
c.12835A>C (p.Arg4279=)
c.13369A>C (p.Arg4457=)
c.13366A>C (p.Arg4456=)
c.13348A>C (p.Arg4450=)
c.13324A>C (p.Arg4442=)
c.13321A>C (p.Arg4441=)
c.13318A>C (p.Arg4440=)
c.13270A>C (p.Arg4424=)
c.13258A>C (p.Arg4420=)
c.13120A>C (p.Arg4374=)
c.12967A>C (p.Arg4323=)
Xg.53534042G>ACA516418402HUWE1c.12771C>T (p.Asp4257=)
c.12987C>T (p.Asp4329=)
c.3454C>T
n.300C>T
c.12960C>T (p.Asp4320=)
c.13236C>T (p.Asp4412=)
c.13233C>T (p.Asp4411=)
c.13191C>T (p.Asp4397=)
c.13188C>T (p.Asp4396=)
c.13185C>T (p.Asp4395=)
c.13137C>T (p.Asp4379=)
c.12834C>T (p.Asp4278=)
c.13368C>T (p.Asp4456=)
c.13365C>T (p.Asp4455=)
c.13347C>T (p.Asp4449=)
c.13323C>T (p.Asp4441=)
c.13320C>T (p.Asp4440=)
c.13317C>T (p.Asp4439=)
c.13269C>T (p.Asp4423=)
c.13257C>T (p.Asp4419=)
c.13119C>T (p.Asp4373=)
c.12966C>T (p.Asp4322=)
 COSMIC COSMIC
Xg.53534042G>CCA10421109HUWE1c.12771C>G (p.Asp4257Glu)
c.12987C>G (p.Asp4329Glu)
c.3454C>G
n.300C>G
c.12960C>G (p.Asp4320Glu)
c.13236C>G (p.Asp4412Glu)
c.13233C>G (p.Asp4411Glu)
c.13191C>G (p.Asp4397Glu)
c.13188C>G (p.Asp4396Glu)
c.13185C>G (p.Asp4395Glu)
c.13137C>G (p.Asp4379Glu)
c.12834C>G (p.Asp4278Glu)
c.13368C>G (p.Asp4456Glu)
c.13365C>G (p.Asp4455Glu)
c.13347C>G (p.Asp4449Glu)
c.13323C>G (p.Asp4441Glu)
c.13320C>G (p.Asp4440Glu)
c.13317C>G (p.Asp4439Glu)
c.13269C>G (p.Asp4423Glu)
c.13257C>G (p.Asp4419Glu)
c.13119C>G (p.Asp4373Glu)
c.12966C>G (p.Asp4322Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534042G=CA2429868893HUWE1c.12771C= (p.Asp4257=)
c.12987C= (p.Asp4329=)
c.3454C=
n.300C=
c.12960C= (p.Asp4320=)
c.13236C= (p.Asp4412=)
c.13233C= (p.Asp4411=)
c.13191C= (p.Asp4397=)
c.13188C= (p.Asp4396=)
c.13185C= (p.Asp4395=)
c.13137C= (p.Asp4379=)
c.12834C= (p.Asp4278=)
c.13368C= (p.Asp4456=)
c.13365C= (p.Asp4455=)
c.13347C= (p.Asp4449=)
c.13323C= (p.Asp4441=)
c.13320C= (p.Asp4440=)
c.13317C= (p.Asp4439=)
c.13269C= (p.Asp4423=)
c.13257C= (p.Asp4419=)
c.13119C= (p.Asp4373=)
c.12966C= (p.Asp4322=)
Xg.53534042G>TCA413143749HUWE1c.12771C>A (p.Asp4257Glu)
c.12987C>A (p.Asp4329Glu)
c.3454C>A
n.300C>A
c.12960C>A (p.Asp4320Glu)
c.13236C>A (p.Asp4412Glu)
c.13233C>A (p.Asp4411Glu)
c.13191C>A (p.Asp4397Glu)
c.13188C>A (p.Asp4396Glu)
c.13185C>A (p.Asp4395Glu)
c.13137C>A (p.Asp4379Glu)
c.12834C>A (p.Asp4278Glu)
c.13368C>A (p.Asp4456Glu)
c.13365C>A (p.Asp4455Glu)
c.13347C>A (p.Asp4449Glu)
c.13323C>A (p.Asp4441Glu)
c.13320C>A (p.Asp4440Glu)
c.13317C>A (p.Asp4439Glu)
c.13269C>A (p.Asp4423Glu)
c.13257C>A (p.Asp4419Glu)
c.13119C>A (p.Asp4373Glu)
c.12966C>A (p.Asp4322Glu)
Xg.53534043T>ACA413143752HUWE1c.12770A>T (p.Asp4257Val)
c.12986A>T (p.Asp4329Val)
c.3453A>T
n.299A>T
c.12959A>T (p.Asp4320Val)
c.13235A>T (p.Asp4412Val)
c.13232A>T (p.Asp4411Val)
c.13190A>T (p.Asp4397Val)
c.13187A>T (p.Asp4396Val)
c.13184A>T (p.Asp4395Val)
c.13136A>T (p.Asp4379Val)
c.12833A>T (p.Asp4278Val)
c.13367A>T (p.Asp4456Val)
c.13364A>T (p.Asp4455Val)
c.13346A>T (p.Asp4449Val)
c.13322A>T (p.Asp4441Val)
c.13319A>T (p.Asp4440Val)
c.13316A>T (p.Asp4439Val)
c.13268A>T (p.Asp4423Val)
c.13256A>T (p.Asp4419Val)
c.13118A>T (p.Asp4373Val)
c.12965A>T (p.Asp4322Val)
Xg.53534043T>CCA413143756HUWE1c.12770A>G (p.Asp4257Gly)
c.12986A>G (p.Asp4329Gly)
c.3453A>G
n.299A>G
c.12959A>G (p.Asp4320Gly)
c.13235A>G (p.Asp4412Gly)
c.13232A>G (p.Asp4411Gly)
c.13190A>G (p.Asp4397Gly)
c.13187A>G (p.Asp4396Gly)
c.13184A>G (p.Asp4395Gly)
c.13136A>G (p.Asp4379Gly)
c.12833A>G (p.Asp4278Gly)
c.13367A>G (p.Asp4456Gly)
c.13364A>G (p.Asp4455Gly)
c.13346A>G (p.Asp4449Gly)
c.13322A>G (p.Asp4441Gly)
c.13319A>G (p.Asp4440Gly)
c.13316A>G (p.Asp4439Gly)
c.13268A>G (p.Asp4423Gly)
c.13256A>G (p.Asp4419Gly)
c.13118A>G (p.Asp4373Gly)
c.12965A>G (p.Asp4322Gly)
Xg.53534043T>GCA413143765HUWE1c.12770A>C (p.Asp4257Ala)
c.12986A>C (p.Asp4329Ala)
c.3453A>C
n.299A>C
c.12959A>C (p.Asp4320Ala)
c.13235A>C (p.Asp4412Ala)
c.13232A>C (p.Asp4411Ala)
c.13190A>C (p.Asp4397Ala)
c.13187A>C (p.Asp4396Ala)
c.13184A>C (p.Asp4395Ala)
c.13136A>C (p.Asp4379Ala)
c.12833A>C (p.Asp4278Ala)
c.13367A>C (p.Asp4456Ala)
c.13364A>C (p.Asp4455Ala)
c.13346A>C (p.Asp4449Ala)
c.13322A>C (p.Asp4441Ala)
c.13319A>C (p.Asp4440Ala)
c.13316A>C (p.Asp4439Ala)
c.13268A>C (p.Asp4423Ala)
c.13256A>C (p.Asp4419Ala)
c.13118A>C (p.Asp4373Ala)
c.12965A>C (p.Asp4322Ala)
Xg.53534044C>ACA413143775HUWE1c.12769G>T (p.Asp4257Tyr)
c.12985G>T (p.Asp4329Tyr)
c.3452G>T
n.298G>T
c.12958G>T (p.Asp4320Tyr)
c.13234G>T (p.Asp4412Tyr)
c.13231G>T (p.Asp4411Tyr)
c.13189G>T (p.Asp4397Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13135G>T (p.Asp4379Tyr)
c.12832G>T (p.Asp4278Tyr)
c.13366G>T (p.Asp4456Tyr)
c.13363G>T (p.Asp4455Tyr)
c.13345G>T (p.Asp4449Tyr)
c.13321G>T (p.Asp4441Tyr)
c.13318G>T (p.Asp4440Tyr)
c.13315G>T (p.Asp4439Tyr)
c.13267G>T (p.Asp4423Tyr)
c.13255G>T (p.Asp4419Tyr)
c.13117G>T (p.Asp4373Tyr)
c.12964G>T (p.Asp4322Tyr)
Xg.53534044C>GCA413143769HUWE1c.12769G>C (p.Asp4257His)
c.12985G>C (p.Asp4329His)
c.3452G>C
n.298G>C
c.12958G>C (p.Asp4320His)
c.13234G>C (p.Asp4412His)
c.13231G>C (p.Asp4411His)
c.13189G>C (p.Asp4397His)
c.13186G>C (p.Asp4396His)
c.13183G>C (p.Asp4395His)
c.13135G>C (p.Asp4379His)
c.12832G>C (p.Asp4278His)
c.13366G>C (p.Asp4456His)
c.13363G>C (p.Asp4455His)
c.13345G>C (p.Asp4449His)
c.13321G>C (p.Asp4441His)
c.13318G>C (p.Asp4440His)
c.13315G>C (p.Asp4439His)
c.13267G>C (p.Asp4423His)
c.13255G>C (p.Asp4419His)
c.13117G>C (p.Asp4373His)
c.12964G>C (p.Asp4322His)
Xg.53534044C>TCA413143771HUWE1c.12769G>A (p.Asp4257Asn)
c.12985G>A (p.Asp4329Asn)
c.3452G>A
n.298G>A
c.12958G>A (p.Asp4320Asn)
c.13234G>A (p.Asp4412Asn)
c.13231G>A (p.Asp4411Asn)
c.13189G>A (p.Asp4397Asn)
c.13186G>A (p.Asp4396Asn)
c.13183G>A (p.Asp4395Asn)
c.13135G>A (p.Asp4379Asn)
c.12832G>A (p.Asp4278Asn)
c.13366G>A (p.Asp4456Asn)
c.13363G>A (p.Asp4455Asn)
c.13345G>A (p.Asp4449Asn)
c.13321G>A (p.Asp4441Asn)
c.13318G>A (p.Asp4440Asn)
c.13315G>A (p.Asp4439Asn)
c.13267G>A (p.Asp4423Asn)
c.13255G>A (p.Asp4419Asn)
c.13117G>A (p.Asp4373Asn)
c.12964G>A (p.Asp4322Asn)
Xg.53534045A=CA2429868894HUWE1c.12768T= (p.Asp4256=)
c.12984T= (p.Asp4328=)
c.3451T=
n.297T=
c.12957T= (p.Asp4319=)
c.13233T= (p.Asp4411=)
c.13230T= (p.Asp4410=)
c.13188T= (p.Asp4396=)
c.13185T= (p.Asp4395=)
c.13182T= (p.Asp4394=)
c.13134T= (p.Asp4378=)
c.12831T= (p.Asp4277=)
c.13365T= (p.Asp4455=)
c.13362T= (p.Asp4454=)
c.13344T= (p.Asp4448=)
c.13320T= (p.Asp4440=)
c.13317T= (p.Asp4439=)
c.13314T= (p.Asp4438=)
c.13266T= (p.Asp4422=)
c.13254T= (p.Asp4418=)
c.13116T= (p.Asp4372=)
c.12963T= (p.Asp4321=)
Xg.53534045A>CCA413143776HUWE1c.12768T>G (p.Asp4256Glu)
c.12984T>G (p.Asp4328Glu)
c.3451T>G
n.297T>G
c.12957T>G (p.Asp4319Glu)
c.13233T>G (p.Asp4411Glu)
c.13230T>G (p.Asp4410Glu)
c.13188T>G (p.Asp4396Glu)
c.13185T>G (p.Asp4395Glu)
c.13182T>G (p.Asp4394Glu)
c.13134T>G (p.Asp4378Glu)
c.12831T>G (p.Asp4277Glu)
c.13365T>G (p.Asp4455Glu)
c.13362T>G (p.Asp4454Glu)
c.13344T>G (p.Asp4448Glu)
c.13320T>G (p.Asp4440Glu)
c.13317T>G (p.Asp4439Glu)
c.13314T>G (p.Asp4438Glu)
c.13266T>G (p.Asp4422Glu)
c.13254T>G (p.Asp4418Glu)
c.13116T>G (p.Asp4372Glu)
c.12963T>G (p.Asp4321Glu)
Xg.53534045A>GCA10421110HUWE1c.12768T>C (p.Asp4256=)
c.12984T>C (p.Asp4328=)
c.3451T>C
n.297T>C
c.12957T>C (p.Asp4319=)
c.13233T>C (p.Asp4411=)
c.13230T>C (p.Asp4410=)
c.13188T>C (p.Asp4396=)
c.13185T>C (p.Asp4395=)
c.13182T>C (p.Asp4394=)
c.13134T>C (p.Asp4378=)
c.12831T>C (p.Asp4277=)
c.13365T>C (p.Asp4455=)
c.13362T>C (p.Asp4454=)
c.13344T>C (p.Asp4448=)
c.13320T>C (p.Asp4440=)
c.13317T>C (p.Asp4439=)
c.13314T>C (p.Asp4438=)
c.13266T>C (p.Asp4422=)
c.13254T>C (p.Asp4418=)
c.13116T>C (p.Asp4372=)
c.12963T>C (p.Asp4321=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.53534045A>TCA413143778HUWE1c.12768T>A (p.Asp4256Glu)
c.12984T>A (p.Asp4328Glu)
c.3451T>A
n.297T>A
c.12957T>A (p.Asp4319Glu)
c.13233T>A (p.Asp4411Glu)
c.13230T>A (p.Asp4410Glu)
c.13188T>A (p.Asp4396Glu)
c.13185T>A (p.Asp4395Glu)
c.13182T>A (p.Asp4394Glu)
c.13134T>A (p.Asp4378Glu)
c.12831T>A (p.Asp4277Glu)
c.13365T>A (p.Asp4455Glu)
c.13362T>A (p.Asp4454Glu)
c.13344T>A (p.Asp4448Glu)
c.13320T>A (p.Asp4440Glu)
c.13317T>A (p.Asp4439Glu)
c.13314T>A (p.Asp4438Glu)
c.13266T>A (p.Asp4422Glu)
c.13254T>A (p.Asp4418Glu)
c.13116T>A (p.Asp4372Glu)
c.12963T>A (p.Asp4321Glu)
Xg.53534046T>ACA413143781HUWE1c.12767A>T (p.Asp4256Val)
c.12983A>T (p.Asp4328Val)
c.3450A>T
n.296A>T
c.12956A>T (p.Asp4319Val)
c.13232A>T (p.Asp4411Val)
c.13229A>T (p.Asp4410Val)
c.13187A>T (p.Asp4396Val)
c.13184A>T (p.Asp4395Val)
c.13181A>T (p.Asp4394Val)
c.13133A>T (p.Asp4378Val)
c.12830A>T (p.Asp4277Val)
c.13364A>T (p.Asp4455Val)
c.13361A>T (p.Asp4454Val)
c.13343A>T (p.Asp4448Val)
c.13319A>T (p.Asp4440Val)
c.13316A>T (p.Asp4439Val)
c.13313A>T (p.Asp4438Val)
c.13265A>T (p.Asp4422Val)
c.13253A>T (p.Asp4418Val)
c.13115A>T (p.Asp4372Val)
c.12962A>T (p.Asp4321Val)
Xg.53534046T>CCA413143784HUWE1c.12767A>G (p.Asp4256Gly)
c.12983A>G (p.Asp4328Gly)
c.3450A>G
n.296A>G
c.12956A>G (p.Asp4319Gly)
c.13232A>G (p.Asp4411Gly)
c.13229A>G (p.Asp4410Gly)
c.13187A>G (p.Asp4396Gly)
c.13184A>G (p.Asp4395Gly)
c.13181A>G (p.Asp4394Gly)
c.13133A>G (p.Asp4378Gly)
c.12830A>G (p.Asp4277Gly)
c.13364A>G (p.Asp4455Gly)
c.13361A>G (p.Asp4454Gly)
c.13343A>G (p.Asp4448Gly)
c.13319A>G (p.Asp4440Gly)
c.13316A>G (p.Asp4439Gly)
c.13313A>G (p.Asp4438Gly)
c.13265A>G (p.Asp4422Gly)
c.13253A>G (p.Asp4418Gly)
c.13115A>G (p.Asp4372Gly)
c.12962A>G (p.Asp4321Gly)
Xg.53534046T>GCA413143787HUWE1c.12767A>C (p.Asp4256Ala)
c.12983A>C (p.Asp4328Ala)
c.3450A>C
n.296A>C
c.12956A>C (p.Asp4319Ala)
c.13232A>C (p.Asp4411Ala)
c.13229A>C (p.Asp4410Ala)
c.13187A>C (p.Asp4396Ala)
c.13184A>C (p.Asp4395Ala)
c.13181A>C (p.Asp4394Ala)
c.13133A>C (p.Asp4378Ala)
c.12830A>C (p.Asp4277Ala)
c.13364A>C (p.Asp4455Ala)
c.13361A>C (p.Asp4454Ala)
c.13343A>C (p.Asp4448Ala)
c.13319A>C (p.Asp4440Ala)
c.13316A>C (p.Asp4439Ala)
c.13313A>C (p.Asp4438Ala)
c.13265A>C (p.Asp4422Ala)
c.13253A>C (p.Asp4418Ala)
c.13115A>C (p.Asp4372Ala)
c.12962A>C (p.Asp4321Ala)
Xg.53534047C>ACA413143795HUWE1c.12766G>T (p.Asp4256Tyr)
c.12982G>T (p.Asp4328Tyr)
c.3449G>T
n.295G>T
c.12955G>T (p.Asp4319Tyr)
c.13231G>T (p.Asp4411Tyr)
c.13228G>T (p.Asp4410Tyr)
c.13186G>T (p.Asp4396Tyr)
c.13183G>T (p.Asp4395Tyr)
c.13180G>T (p.Asp4394Tyr)
c.13132G>T (p.Asp4378Tyr)
c.12829G>T (p.Asp4277Tyr)
c.13363G>T (p.Asp4455Tyr)
c.13360G>T (p.Asp4454Tyr)
c.13342G>T (p.Asp4448Tyr)
c.13318G>T (p.Asp4440Tyr)
c.13315G>T (p.Asp4439Tyr)
c.13312G>T (p.Asp4438Tyr)
c.13264G>T (p.Asp4422Tyr)
c.13252G>T (p.Asp4418Tyr)
c.13114G>T (p.Asp4372Tyr)
c.12961G>T (p.Asp4321Tyr)
Xg.53534047C>GCA413143799HUWE1c.12766G>C (p.Asp4256His)
c.12982G>C (p.Asp4328His)
c.3449G>C
n.295G>C
c.12955G>C (p.Asp4319His)
c.13231G>C (p.Asp4411His)
c.13228G>C (p.Asp4410His)
c.13186G>C (p.Asp4396His)
c.13183G>C (p.Asp4395His)
c.13180G>C (p.Asp4394His)
c.13132G>C (p.Asp4378His)
c.12829G>C (p.Asp4277His)
c.13363G>C (p.Asp4455His)
c.13360G>C (p.Asp4454His)
c.13342G>C (p.Asp4448His)
c.13318G>C (p.Asp4440His)
c.13315G>C (p.Asp4439His)
c.13312G>C (p.Asp4438His)
c.13264G>C (p.Asp4422His)
c.13252G>C (p.Asp4418His)
c.13114G>C (p.Asp4372His)
c.12961G>C (p.Asp4321His)
 COSMIC
Xg.53534047C>TCA413143801HUWE1c.12766G>A (p.Asp4256Asn)
c.12982G>A (p.Asp4328Asn)
c.3449G>A
n.295G>A
c.12955G>A (p.Asp4319Asn)
c.13231G>A (p.Asp4411Asn)
c.13228G>A (p.Asp4410Asn)
c.13186G>A (p.Asp4396Asn)
c.13183G>A (p.Asp4395Asn)
c.13180G>A (p.Asp4394Asn)
c.13132G>A (p.Asp4378Asn)
c.12829G>A (p.Asp4277Asn)
c.13363G>A (p.Asp4455Asn)
c.13360G>A (p.Asp4454Asn)
c.13342G>A (p.Asp4448Asn)
c.13318G>A (p.Asp4440Asn)
c.13315G>A (p.Asp4439Asn)
c.13312G>A (p.Asp4438Asn)
c.13264G>A (p.Asp4422Asn)
c.13252G>A (p.Asp4418Asn)
c.13114G>A (p.Asp4372Asn)
c.12961G>A (p.Asp4321Asn)
Xg.53534048T>ACA516418466HUWE1c.12765A>T (p.Arg4255=)
c.12981A>T (p.Arg4327=)
c.3448A>T
n.294A>T
c.12954A>T (p.Arg4318=)
c.13230A>T (p.Arg4410=)
c.13227A>T (p.Arg4409=)
c.13185A>T (p.Arg4395=)
c.13182A>T (p.Arg4394=)
c.13179A>T (p.Arg4393=)
c.13131A>T (p.Arg4377=)
c.12828A>T (p.Arg4276=)
c.13362A>T (p.Arg4454=)
c.13359A>T (p.Arg4453=)
c.13341A>T (p.Arg4447=)
c.13317A>T (p.Arg4439=)
c.13314A>T (p.Arg4438=)
c.13311A>T (p.Arg4437=)
c.13263A>T (p.Arg4421=)
c.13251A>T (p.Arg4417=)
c.13113A>T (p.Arg4371=)
c.12960A>T (p.Arg4320=)
Xg.53534048T>CCA516418468HUWE1c.12765A>G (p.Arg4255=)
c.12981A>G (p.Arg4327=)
c.3448A>G
n.294A>G
c.12954A>G (p.Arg4318=)
c.13230A>G (p.Arg4410=)
c.13227A>G (p.Arg4409=)
c.13185A>G (p.Arg4395=)
c.13182A>G (p.Arg4394=)
c.13179A>G (p.Arg4393=)
c.13131A>G (p.Arg4377=)
c.12828A>G (p.Arg4276=)
c.13362A>G (p.Arg4454=)
c.13359A>G (p.Arg4453=)
c.13341A>G (p.Arg4447=)
c.13317A>G (p.Arg4439=)
c.13314A>G (p.Arg4438=)
c.13311A>G (p.Arg4437=)
c.13263A>G (p.Arg4421=)
c.13251A>G (p.Arg4417=)
c.13113A>G (p.Arg4371=)
c.12960A>G (p.Arg4320=)
Xg.53534048T>GCA516418470HUWE1c.12765A>C (p.Arg4255=)
c.12981A>C (p.Arg4327=)
c.3448A>C
n.294A>C
c.12954A>C (p.Arg4318=)
c.13230A>C (p.Arg4410=)
c.13227A>C (p.Arg4409=)
c.13185A>C (p.Arg4395=)
c.13182A>C (p.Arg4394=)
c.13179A>C (p.Arg4393=)
c.13131A>C (p.Arg4377=)
c.12828A>C (p.Arg4276=)
c.13362A>C (p.Arg4454=)
c.13359A>C (p.Arg4453=)
c.13341A>C (p.Arg4447=)
c.13317A>C (p.Arg4439=)
c.13314A>C (p.Arg4438=)
c.13311A>C (p.Arg4437=)
c.13263A>C (p.Arg4421=)
c.13251A>C (p.Arg4417=)
c.13113A>C (p.Arg4371=)
c.12960A>C (p.Arg4320=)
Xg.53534049C>ACA413143802HUWE1c.12764G>T (p.Arg4255Leu)
c.12980G>T (p.Arg4327Leu)
c.3447G>T
n.293G>T
c.12953G>T (p.Arg4318Leu)
c.13229G>T (p.Arg4410Leu)
c.13226G>T (p.Arg4409Leu)
c.13184G>T (p.Arg4395Leu)
c.13181G>T (p.Arg4394Leu)
c.13178G>T (p.Arg4393Leu)
c.13130G>T (p.Arg4377Leu)
c.12827G>T (p.Arg4276Leu)
c.13361G>T (p.Arg4454Leu)
c.13358G>T (p.Arg4453Leu)
c.13340G>T (p.Arg4447Leu)
c.13316G>T (p.Arg4439Leu)
c.13313G>T (p.Arg4438Leu)
c.13310G>T (p.Arg4437Leu)
c.13262G>T (p.Arg4421Leu)
c.13250G>T (p.Arg4417Leu)
c.13112G>T (p.Arg4371Leu)
c.12959G>T (p.Arg4320Leu)
Xg.53534049C=CA2429868895HUWE1c.12764G= (p.Arg4255=)
c.12980G= (p.Arg4327=)
c.3447G=
n.293G=
c.12953G= (p.Arg4318=)
c.13229G= (p.Arg4410=)
c.13226G= (p.Arg4409=)
c.13184G= (p.Arg4395=)
c.13181G= (p.Arg4394=)
c.13178G= (p.Arg4393=)
c.13130G= (p.Arg4377=)
c.12827G= (p.Arg4276=)
c.13361G= (p.Arg4454=)
c.13358G= (p.Arg4453=)
c.13340G= (p.Arg4447=)
c.13316G= (p.Arg4439=)
c.13313G= (p.Arg4438=)
c.13310G= (p.Arg4437=)
c.13262G= (p.Arg4421=)
c.13250G= (p.Arg4417=)
c.13112G= (p.Arg4371=)
c.12959G= (p.Arg4320=)
Xg.53534049C>GCA413143803HUWE1c.12764G>C (p.Arg4255Pro)
c.12980G>C (p.Arg4327Pro)
c.3447G>C
n.293G>C
c.12953G>C (p.Arg4318Pro)
c.13229G>C (p.Arg4410Pro)
c.13226G>C (p.Arg4409Pro)
c.13184G>C (p.Arg4395Pro)
c.13181G>C (p.Arg4394Pro)
c.13178G>C (p.Arg4393Pro)
c.13130G>C (p.Arg4377Pro)
c.12827G>C (p.Arg4276Pro)
c.13361G>C (p.Arg4454Pro)
c.13358G>C (p.Arg4453Pro)
c.13340G>C (p.Arg4447Pro)
c.13316G>C (p.Arg4439Pro)
c.13313G>C (p.Arg4438Pro)
c.13310G>C (p.Arg4437Pro)
c.13262G>C (p.Arg4421Pro)
c.13250G>C (p.Arg4417Pro)
c.13112G>C (p.Arg4371Pro)
c.12959G>C (p.Arg4320Pro)
Xg.53534049C>TCA413143805HUWE1c.12764G>A (p.Arg4255Gln)
c.12980G>A (p.Arg4327Gln)
c.3447G>A
n.293G>A
c.12953G>A (p.Arg4318Gln)
c.13229G>A (p.Arg4410Gln)
c.13226G>A (p.Arg4409Gln)
c.13184G>A (p.Arg4395Gln)
c.13181G>A (p.Arg4394Gln)
c.13178G>A (p.Arg4393Gln)
c.13130G>A (p.Arg4377Gln)
c.12827G>A (p.Arg4276Gln)
c.13361G>A (p.Arg4454Gln)
c.13358G>A (p.Arg4453Gln)
c.13340G>A (p.Arg4447Gln)
c.13316G>A (p.Arg4439Gln)
c.13313G>A (p.Arg4438Gln)
c.13310G>A (p.Arg4437Gln)
c.13262G>A (p.Arg4421Gln)
c.13250G>A (p.Arg4417Gln)
c.13112G>A (p.Arg4371Gln)
c.12959G>A (p.Arg4320Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534050G>ACA413143808HUWE1c.12763C>T (p.Arg4255Ter)
c.12979C>T (p.Arg4327Ter)
c.3446C>T
n.292C>T
c.12952C>T (p.Arg4318Ter)
c.13228C>T (p.Arg4410Ter)
c.13225C>T (p.Arg4409Ter)
c.13183C>T (p.Arg4395Ter)
c.13180C>T (p.Arg4394Ter)
c.13177C>T (p.Arg4393Ter)
c.13129C>T (p.Arg4377Ter)
c.12826C>T (p.Arg4276Ter)
c.13360C>T (p.Arg4454Ter)
c.13357C>T (p.Arg4453Ter)
c.13339C>T (p.Arg4447Ter)
c.13315C>T (p.Arg4439Ter)
c.13312C>T (p.Arg4438Ter)
c.13309C>T (p.Arg4437Ter)
c.13261C>T (p.Arg4421Ter)
c.13249C>T (p.Arg4417Ter)
c.13111C>T (p.Arg4371Ter)
c.12958C>T (p.Arg4320Ter)
Xg.53534050G>CCA413143815HUWE1c.12763C>G (p.Arg4255Gly)
c.12979C>G (p.Arg4327Gly)
c.3446C>G
n.292C>G
c.12952C>G (p.Arg4318Gly)
c.13228C>G (p.Arg4410Gly)
c.13225C>G (p.Arg4409Gly)
c.13183C>G (p.Arg4395Gly)
c.13180C>G (p.Arg4394Gly)
c.13177C>G (p.Arg4393Gly)
c.13129C>G (p.Arg4377Gly)
c.12826C>G (p.Arg4276Gly)
c.13360C>G (p.Arg4454Gly)
c.13357C>G (p.Arg4453Gly)
c.13339C>G (p.Arg4447Gly)
c.13315C>G (p.Arg4439Gly)
c.13312C>G (p.Arg4438Gly)
c.13309C>G (p.Arg4437Gly)
c.13261C>G (p.Arg4421Gly)
c.13249C>G (p.Arg4417Gly)
c.13111C>G (p.Arg4371Gly)
c.12958C>G (p.Arg4320Gly)
Xg.53534050G>TCA516418485HUWE1c.12763C>A (p.Arg4255=)
c.12979C>A (p.Arg4327=)
c.3446C>A
n.292C>A
c.12952C>A (p.Arg4318=)
c.13228C>A (p.Arg4410=)
c.13225C>A (p.Arg4409=)
c.13183C>A (p.Arg4395=)
c.13180C>A (p.Arg4394=)
c.13177C>A (p.Arg4393=)
c.13129C>A (p.Arg4377=)
c.12826C>A (p.Arg4276=)
c.13360C>A (p.Arg4454=)
c.13357C>A (p.Arg4453=)
c.13339C>A (p.Arg4447=)
c.13315C>A (p.Arg4439=)
c.13312C>A (p.Arg4438=)
c.13309C>A (p.Arg4437=)
c.13261C>A (p.Arg4421=)
c.13249C>A (p.Arg4417=)
c.13111C>A (p.Arg4371=)
c.12958C>A (p.Arg4320=)
Xg.53534051A=CA2429868896HUWE1c.12762T= (p.His4254=)
c.12978T= (p.His4326=)
c.3445T=
n.291T=
c.12951T= (p.His4317=)
c.13227T= (p.His4409=)
c.13224T= (p.His4408=)
c.13182T= (p.His4394=)
c.13179T= (p.His4393=)
c.13176T= (p.His4392=)
c.13128T= (p.His4376=)
c.12825T= (p.His4275=)
c.13359T= (p.His4453=)
c.13356T= (p.His4452=)
c.13338T= (p.His4446=)
c.13314T= (p.His4438=)
c.13311T= (p.His4437=)
c.13308T= (p.His4436=)
c.13260T= (p.His4420=)
c.13248T= (p.His4416=)
c.13110T= (p.His4370=)
c.12957T= (p.His4319=)
Xg.53534051A>CCA413143821HUWE1c.12762T>G (p.His4254Gln)
c.12978T>G (p.His4326Gln)
c.3445T>G
n.291T>G
c.12951T>G (p.His4317Gln)
c.13227T>G (p.His4409Gln)
c.13224T>G (p.His4408Gln)
c.13182T>G (p.His4394Gln)
c.13179T>G (p.His4393Gln)
c.13176T>G (p.His4392Gln)
c.13128T>G (p.His4376Gln)
c.12825T>G (p.His4275Gln)
c.13359T>G (p.His4453Gln)
c.13356T>G (p.His4452Gln)
c.13338T>G (p.His4446Gln)
c.13314T>G (p.His4438Gln)
c.13311T>G (p.His4437Gln)
c.13308T>G (p.His4436Gln)
c.13260T>G (p.His4420Gln)
c.13248T>G (p.His4416Gln)
c.13110T>G (p.His4370Gln)
c.12957T>G (p.His4319Gln)
Xg.53534051A>GCA10421111HUWE1c.12762T>C (p.His4254=)
c.12978T>C (p.His4326=)
c.3445T>C
n.291T>C
c.12951T>C (p.His4317=)
c.13227T>C (p.His4409=)
c.13224T>C (p.His4408=)
c.13182T>C (p.His4394=)
c.13179T>C (p.His4393=)
c.13176T>C (p.His4392=)
c.13128T>C (p.His4376=)
c.12825T>C (p.His4275=)
c.13359T>C (p.His4453=)
c.13356T>C (p.His4452=)
c.13338T>C (p.His4446=)
c.13314T>C (p.His4438=)
c.13311T>C (p.His4437=)
c.13308T>C (p.His4436=)
c.13260T>C (p.His4420=)
c.13248T>C (p.His4416=)
c.13110T>C (p.His4370=)
c.12957T>C (p.His4319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534051A>TCA413143827HUWE1c.12762T>A (p.His4254Gln)
c.12978T>A (p.His4326Gln)
c.3445T>A
n.291T>A
c.12951T>A (p.His4317Gln)
c.13227T>A (p.His4409Gln)
c.13224T>A (p.His4408Gln)
c.13182T>A (p.His4394Gln)
c.13179T>A (p.His4393Gln)
c.13176T>A (p.His4392Gln)
c.13128T>A (p.His4376Gln)
c.12825T>A (p.His4275Gln)
c.13359T>A (p.His4453Gln)
c.13356T>A (p.His4452Gln)
c.13338T>A (p.His4446Gln)
c.13314T>A (p.His4438Gln)
c.13311T>A (p.His4437Gln)
c.13308T>A (p.His4436Gln)
c.13260T>A (p.His4420Gln)
c.13248T>A (p.His4416Gln)
c.13110T>A (p.His4370Gln)
c.12957T>A (p.His4319Gln)
Xg.53534052T>ACA413143841HUWE1c.12761A>T (p.His4254Leu)
c.12977A>T (p.His4326Leu)
c.3444A>T
n.290A>T
c.12950A>T (p.His4317Leu)
c.13226A>T (p.His4409Leu)
c.13223A>T (p.His4408Leu)
c.13181A>T (p.His4394Leu)
c.13178A>T (p.His4393Leu)
c.13175A>T (p.His4392Leu)
c.13127A>T (p.His4376Leu)
c.12824A>T (p.His4275Leu)
c.13358A>T (p.His4453Leu)
c.13355A>T (p.His4452Leu)
c.13337A>T (p.His4446Leu)
c.13313A>T (p.His4438Leu)
c.13310A>T (p.His4437Leu)
c.13307A>T (p.His4436Leu)
c.13259A>T (p.His4420Leu)
c.13247A>T (p.His4416Leu)
c.13109A>T (p.His4370Leu)
c.12956A>T (p.His4319Leu)
Xg.53534052T>CCA413143848HUWE1c.12761A>G (p.His4254Arg)
c.12977A>G (p.His4326Arg)
c.3444A>G
n.290A>G
c.12950A>G (p.His4317Arg)
c.13226A>G (p.His4409Arg)
c.13223A>G (p.His4408Arg)
c.13181A>G (p.His4394Arg)
c.13178A>G (p.His4393Arg)
c.13175A>G (p.His4392Arg)
c.13127A>G (p.His4376Arg)
c.12824A>G (p.His4275Arg)
c.13358A>G (p.His4453Arg)
c.13355A>G (p.His4452Arg)
c.13337A>G (p.His4446Arg)
c.13313A>G (p.His4438Arg)
c.13310A>G (p.His4437Arg)
c.13307A>G (p.His4436Arg)
c.13259A>G (p.His4420Arg)
c.13247A>G (p.His4416Arg)
c.13109A>G (p.His4370Arg)
c.12956A>G (p.His4319Arg)
Xg.53534052T>GCA413143851HUWE1c.12761A>C (p.His4254Pro)
c.12977A>C (p.His4326Pro)
c.3444A>C
n.290A>C
c.12950A>C (p.His4317Pro)
c.13226A>C (p.His4409Pro)
c.13223A>C (p.His4408Pro)
c.13181A>C (p.His4394Pro)
c.13178A>C (p.His4393Pro)
c.13175A>C (p.His4392Pro)
c.13127A>C (p.His4376Pro)
c.12824A>C (p.His4275Pro)
c.13358A>C (p.His4453Pro)
c.13355A>C (p.His4452Pro)
c.13337A>C (p.His4446Pro)
c.13313A>C (p.His4438Pro)
c.13310A>C (p.His4437Pro)
c.13307A>C (p.His4436Pro)
c.13259A>C (p.His4420Pro)
c.13247A>C (p.His4416Pro)
c.13109A>C (p.His4370Pro)
c.12956A>C (p.His4319Pro)
Xg.53534053G>ACA413143852HUWE1c.12760C>T (p.His4254Tyr)
c.12976C>T (p.His4326Tyr)
c.3443C>T
n.289C>T
c.12949C>T (p.His4317Tyr)
c.13225C>T (p.His4409Tyr)
c.13222C>T (p.His4408Tyr)
c.13180C>T (p.His4394Tyr)
c.13177C>T (p.His4393Tyr)
c.13174C>T (p.His4392Tyr)
c.13126C>T (p.His4376Tyr)
c.12823C>T (p.His4275Tyr)
c.13357C>T (p.His4453Tyr)
c.13354C>T (p.His4452Tyr)
c.13336C>T (p.His4446Tyr)
c.13312C>T (p.His4438Tyr)
c.13309C>T (p.His4437Tyr)
c.13306C>T (p.His4436Tyr)
c.13258C>T (p.His4420Tyr)
c.13246C>T (p.His4416Tyr)
c.13108C>T (p.His4370Tyr)
c.12955C>T (p.His4319Tyr)
 dbSNP
Xg.53534053G>CCA413143853HUWE1c.12760C>G (p.His4254Asp)
c.12976C>G (p.His4326Asp)
c.3443C>G
n.289C>G
c.12949C>G (p.His4317Asp)
c.13225C>G (p.His4409Asp)
c.13222C>G (p.His4408Asp)
c.13180C>G (p.His4394Asp)
c.13177C>G (p.His4393Asp)
c.13174C>G (p.His4392Asp)
c.13126C>G (p.His4376Asp)
c.12823C>G (p.His4275Asp)
c.13357C>G (p.His4453Asp)
c.13354C>G (p.His4452Asp)
c.13336C>G (p.His4446Asp)
c.13312C>G (p.His4438Asp)
c.13309C>G (p.His4437Asp)
c.13306C>G (p.His4436Asp)
c.13258C>G (p.His4420Asp)
c.13246C>G (p.His4416Asp)
c.13108C>G (p.His4370Asp)
c.12955C>G (p.His4319Asp)
Xg.53534053G=CA2429868897HUWE1c.12760C= (p.His4254=)
c.12976C= (p.His4326=)
c.3443C=
n.289C=
c.12949C= (p.His4317=)
c.13225C= (p.His4409=)
c.13222C= (p.His4408=)
c.13180C= (p.His4394=)
c.13177C= (p.His4393=)
c.13174C= (p.His4392=)
c.13126C= (p.His4376=)
c.12823C= (p.His4275=)
c.13357C= (p.His4453=)
c.13354C= (p.His4452=)
c.13336C= (p.His4446=)
c.13312C= (p.His4438=)
c.13309C= (p.His4437=)
c.13306C= (p.His4436=)
c.13258C= (p.His4420=)
c.13246C= (p.His4416=)
c.13108C= (p.His4370=)
c.12955C= (p.His4319=)
Xg.53534053G>TCA413143854HUWE1c.12760C>A (p.His4254Asn)
c.12976C>A (p.His4326Asn)
c.3443C>A
n.289C>A
c.12949C>A (p.His4317Asn)
c.13225C>A (p.His4409Asn)
c.13222C>A (p.His4408Asn)
c.13180C>A (p.His4394Asn)
c.13177C>A (p.His4393Asn)
c.13174C>A (p.His4392Asn)
c.13126C>A (p.His4376Asn)
c.12823C>A (p.His4275Asn)
c.13357C>A (p.His4453Asn)
c.13354C>A (p.His4452Asn)
c.13336C>A (p.His4446Asn)
c.13312C>A (p.His4438Asn)
c.13309C>A (p.His4437Asn)
c.13306C>A (p.His4436Asn)
c.13258C>A (p.His4420Asn)
c.13246C>A (p.His4416Asn)
c.13108C>A (p.His4370Asn)
c.12955C>A (p.His4319Asn)
Xg.53534054G>ACA516418499HUWE1c.12759C>T (p.Ile4253=)
c.12975C>T (p.Ile4325=)
c.3442C>T
n.288C>T
c.12948C>T (p.Ile4316=)
c.13224C>T (p.Ile4408=)
c.13221C>T (p.Ile4407=)
c.13179C>T (p.Ile4393=)
c.13176C>T (p.Ile4392=)
c.13173C>T (p.Ile4391=)
c.13125C>T (p.Ile4375=)
c.12822C>T (p.Ile4274=)
c.13356C>T (p.Ile4452=)
c.13353C>T (p.Ile4451=)
c.13335C>T (p.Ile4445=)
c.13311C>T (p.Ile4437=)
c.13308C>T (p.Ile4436=)
c.13305C>T (p.Ile4435=)
c.13257C>T (p.Ile4419=)
c.13245C>T (p.Ile4415=)
c.13107C>T (p.Ile4369=)
c.12954C>T (p.Ile4318=)
 COSMIC COSMIC
Xg.53534054G>CCA413143855HUWE1c.12759C>G (p.Ile4253Met)
c.12975C>G (p.Ile4325Met)
c.3442C>G
n.288C>G
c.12948C>G (p.Ile4316Met)
c.13224C>G (p.Ile4408Met)
c.13221C>G (p.Ile4407Met)
c.13179C>G (p.Ile4393Met)
c.13176C>G (p.Ile4392Met)
c.13173C>G (p.Ile4391Met)
c.13125C>G (p.Ile4375Met)
c.12822C>G (p.Ile4274Met)
c.13356C>G (p.Ile4452Met)
c.13353C>G (p.Ile4451Met)
c.13335C>G (p.Ile4445Met)
c.13311C>G (p.Ile4437Met)
c.13308C>G (p.Ile4436Met)
c.13305C>G (p.Ile4435Met)
c.13257C>G (p.Ile4419Met)
c.13245C>G (p.Ile4415Met)
c.13107C>G (p.Ile4369Met)
c.12954C>G (p.Ile4318Met)
Xg.53534054G>TCA516418504HUWE1c.12759C>A (p.Ile4253=)
c.12975C>A (p.Ile4325=)
c.3442C>A
n.288C>A
c.12948C>A (p.Ile4316=)
c.13224C>A (p.Ile4408=)
c.13221C>A (p.Ile4407=)
c.13179C>A (p.Ile4393=)
c.13176C>A (p.Ile4392=)
c.13173C>A (p.Ile4391=)
c.13125C>A (p.Ile4375=)
c.12822C>A (p.Ile4274=)
c.13356C>A (p.Ile4452=)
c.13353C>A (p.Ile4451=)
c.13335C>A (p.Ile4445=)
c.13311C>A (p.Ile4437=)
c.13308C>A (p.Ile4436=)
c.13305C>A (p.Ile4435=)
c.13257C>A (p.Ile4419=)
c.13245C>A (p.Ile4415=)
c.13107C>A (p.Ile4369=)
c.12954C>A (p.Ile4318=)
Xg.53534055A>CCA413143862HUWE1c.12758T>G (p.Ile4253Ser)
c.12974T>G (p.Ile4325Ser)
c.3441T>G
n.287T>G
c.12947T>G (p.Ile4316Ser)
c.13223T>G (p.Ile4408Ser)
c.13220T>G (p.Ile4407Ser)
c.13178T>G (p.Ile4393Ser)
c.13175T>G (p.Ile4392Ser)
c.13172T>G (p.Ile4391Ser)
c.13124T>G (p.Ile4375Ser)
c.12821T>G (p.Ile4274Ser)
c.13355T>G (p.Ile4452Ser)
c.13352T>G (p.Ile4451Ser)
c.13334T>G (p.Ile4445Ser)
c.13310T>G (p.Ile4437Ser)
c.13307T>G (p.Ile4436Ser)
c.13304T>G (p.Ile4435Ser)
c.13256T>G (p.Ile4419Ser)
c.13244T>G (p.Ile4415Ser)
c.13106T>G (p.Ile4369Ser)
c.12953T>G (p.Ile4318Ser)
Xg.53534055A>GCA413143864HUWE1c.12758T>C (p.Ile4253Thr)
c.12974T>C (p.Ile4325Thr)
c.3441T>C
n.287T>C
c.12947T>C (p.Ile4316Thr)
c.13223T>C (p.Ile4408Thr)
c.13220T>C (p.Ile4407Thr)
c.13178T>C (p.Ile4393Thr)
c.13175T>C (p.Ile4392Thr)
c.13172T>C (p.Ile4391Thr)
c.13124T>C (p.Ile4375Thr)
c.12821T>C (p.Ile4274Thr)
c.13355T>C (p.Ile4452Thr)
c.13352T>C (p.Ile4451Thr)
c.13334T>C (p.Ile4445Thr)
c.13310T>C (p.Ile4437Thr)
c.13307T>C (p.Ile4436Thr)
c.13304T>C (p.Ile4435Thr)
c.13256T>C (p.Ile4419Thr)
c.13244T>C (p.Ile4415Thr)
c.13106T>C (p.Ile4369Thr)
c.12953T>C (p.Ile4318Thr)
Xg.53534055A>TCA413143871HUWE1c.12758T>A (p.Ile4253Asn)
c.12974T>A (p.Ile4325Asn)
c.3441T>A
n.287T>A
c.12947T>A (p.Ile4316Asn)
c.13223T>A (p.Ile4408Asn)
c.13220T>A (p.Ile4407Asn)
c.13178T>A (p.Ile4393Asn)
c.13175T>A (p.Ile4392Asn)
c.13172T>A (p.Ile4391Asn)
c.13124T>A (p.Ile4375Asn)
c.12821T>A (p.Ile4274Asn)
c.13355T>A (p.Ile4452Asn)
c.13352T>A (p.Ile4451Asn)
c.13334T>A (p.Ile4445Asn)
c.13310T>A (p.Ile4437Asn)
c.13307T>A (p.Ile4436Asn)
c.13304T>A (p.Ile4435Asn)
c.13256T>A (p.Ile4419Asn)
c.13244T>A (p.Ile4415Asn)
c.13106T>A (p.Ile4369Asn)
c.12953T>A (p.Ile4318Asn)
Xg.53534056T>ACA413143876HUWE1c.12757A>T (p.Ile4253Phe)
c.12973A>T (p.Ile4325Phe)
c.3440A>T
n.286A>T
c.12946A>T (p.Ile4316Phe)
c.13222A>T (p.Ile4408Phe)
c.13219A>T (p.Ile4407Phe)
c.13177A>T (p.Ile4393Phe)
c.13174A>T (p.Ile4392Phe)
c.13171A>T (p.Ile4391Phe)
c.13123A>T (p.Ile4375Phe)
c.12820A>T (p.Ile4274Phe)
c.13354A>T (p.Ile4452Phe)
c.13351A>T (p.Ile4451Phe)
c.13333A>T (p.Ile4445Phe)
c.13309A>T (p.Ile4437Phe)
c.13306A>T (p.Ile4436Phe)
c.13303A>T (p.Ile4435Phe)
c.13255A>T (p.Ile4419Phe)
c.13243A>T (p.Ile4415Phe)
c.13105A>T (p.Ile4369Phe)
c.12952A>T (p.Ile4318Phe)
Xg.53534056T>CCA413143879HUWE1c.12757A>G (p.Ile4253Val)
c.12973A>G (p.Ile4325Val)
c.3440A>G
n.286A>G
c.12946A>G (p.Ile4316Val)
c.13222A>G (p.Ile4408Val)
c.13219A>G (p.Ile4407Val)
c.13177A>G (p.Ile4393Val)
c.13174A>G (p.Ile4392Val)
c.13171A>G (p.Ile4391Val)
c.13123A>G (p.Ile4375Val)
c.12820A>G (p.Ile4274Val)
c.13354A>G (p.Ile4452Val)
c.13351A>G (p.Ile4451Val)
c.13333A>G (p.Ile4445Val)
c.13309A>G (p.Ile4437Val)
c.13306A>G (p.Ile4436Val)
c.13303A>G (p.Ile4435Val)
c.13255A>G (p.Ile4419Val)
c.13243A>G (p.Ile4415Val)
c.13105A>G (p.Ile4369Val)
c.12952A>G (p.Ile4318Val)
Xg.53534056T>GCA413143883HUWE1c.12757A>C (p.Ile4253Leu)
c.12973A>C (p.Ile4325Leu)
c.3440A>C
n.286A>C
c.12946A>C (p.Ile4316Leu)
c.13222A>C (p.Ile4408Leu)
c.13219A>C (p.Ile4407Leu)
c.13177A>C (p.Ile4393Leu)
c.13174A>C (p.Ile4392Leu)
c.13171A>C (p.Ile4391Leu)
c.13123A>C (p.Ile4375Leu)
c.12820A>C (p.Ile4274Leu)
c.13354A>C (p.Ile4452Leu)
c.13351A>C (p.Ile4451Leu)
c.13333A>C (p.Ile4445Leu)
c.13309A>C (p.Ile4437Leu)
c.13306A>C (p.Ile4436Leu)
c.13303A>C (p.Ile4435Leu)
c.13255A>C (p.Ile4419Leu)
c.13243A>C (p.Ile4415Leu)
c.13105A>C (p.Ile4369Leu)
c.12952A>C (p.Ile4318Leu)
Xg.53534057C>ACA413143884HUWE1c.12756G>T (p.Gln4252His)
c.12972G>T (p.Gln4324His)
c.3439G>T
n.285G>T
c.12945G>T (p.Gln4315His)
c.13221G>T (p.Gln4407His)
c.13218G>T (p.Gln4406His)
c.13176G>T (p.Gln4392His)
c.13173G>T (p.Gln4391His)
c.13170G>T (p.Gln4390His)
c.13122G>T (p.Gln4374His)
c.12819G>T (p.Gln4273His)
c.13353G>T (p.Gln4451His)
c.13350G>T (p.Gln4450His)
c.13332G>T (p.Gln4444His)
c.13308G>T (p.Gln4436His)
c.13305G>T (p.Gln4435His)
c.13302G>T (p.Gln4434His)
c.13254G>T (p.Gln4418His)
c.13242G>T (p.Gln4414His)
c.13104G>T (p.Gln4368His)
c.12951G>T (p.Gln4317His)
Xg.53534057C>GCA413143885HUWE1c.12756G>C (p.Gln4252His)
c.12972G>C (p.Gln4324His)
c.3439G>C
n.285G>C
c.12945G>C (p.Gln4315His)
c.13221G>C (p.Gln4407His)
c.13218G>C (p.Gln4406His)
c.13176G>C (p.Gln4392His)
c.13173G>C (p.Gln4391His)
c.13170G>C (p.Gln4390His)
c.13122G>C (p.Gln4374His)
c.12819G>C (p.Gln4273His)
c.13353G>C (p.Gln4451His)
c.13350G>C (p.Gln4450His)
c.13332G>C (p.Gln4444His)
c.13308G>C (p.Gln4436His)
c.13305G>C (p.Gln4435His)
c.13302G>C (p.Gln4434His)
c.13254G>C (p.Gln4418His)
c.13242G>C (p.Gln4414His)
c.13104G>C (p.Gln4368His)
c.12951G>C (p.Gln4317His)
Xg.53534057C>TCA516418536HUWE1c.12756G>A (p.Gln4252=)
c.12972G>A (p.Gln4324=)
c.3439G>A
n.285G>A
c.12945G>A (p.Gln4315=)
c.13221G>A (p.Gln4407=)
c.13218G>A (p.Gln4406=)
c.13176G>A (p.Gln4392=)
c.13173G>A (p.Gln4391=)
c.13170G>A (p.Gln4390=)
c.13122G>A (p.Gln4374=)
c.12819G>A (p.Gln4273=)
c.13353G>A (p.Gln4451=)
c.13350G>A (p.Gln4450=)
c.13332G>A (p.Gln4444=)
c.13308G>A (p.Gln4436=)
c.13305G>A (p.Gln4435=)
c.13302G>A (p.Gln4434=)
c.13254G>A (p.Gln4418=)
c.13242G>A (p.Gln4414=)
c.13104G>A (p.Gln4368=)
c.12951G>A (p.Gln4317=)
Xg.53534058T>ACA413143889HUWE1c.12755A>T (p.Gln4252Leu)
c.12971A>T (p.Gln4324Leu)
c.3438A>T
n.284A>T
c.12944A>T (p.Gln4315Leu)
c.13220A>T (p.Gln4407Leu)
c.13217A>T (p.Gln4406Leu)
c.13175A>T (p.Gln4392Leu)
c.13172A>T (p.Gln4391Leu)
c.13169A>T (p.Gln4390Leu)
c.13121A>T (p.Gln4374Leu)
c.12818A>T (p.Gln4273Leu)
c.13352A>T (p.Gln4451Leu)
c.13349A>T (p.Gln4450Leu)
c.13331A>T (p.Gln4444Leu)
c.13307A>T (p.Gln4436Leu)
c.13304A>T (p.Gln4435Leu)
c.13301A>T (p.Gln4434Leu)
c.13253A>T (p.Gln4418Leu)
c.13241A>T (p.Gln4414Leu)
c.13103A>T (p.Gln4368Leu)
c.12950A>T (p.Gln4317Leu)
Xg.53534058T>CCA413143892HUWE1c.12755A>G (p.Gln4252Arg)
c.12971A>G (p.Gln4324Arg)
c.3438A>G
n.284A>G
c.12944A>G (p.Gln4315Arg)
c.13220A>G (p.Gln4407Arg)
c.13217A>G (p.Gln4406Arg)
c.13175A>G (p.Gln4392Arg)
c.13172A>G (p.Gln4391Arg)
c.13169A>G (p.Gln4390Arg)
c.13121A>G (p.Gln4374Arg)
c.12818A>G (p.Gln4273Arg)
c.13352A>G (p.Gln4451Arg)
c.13349A>G (p.Gln4450Arg)
c.13331A>G (p.Gln4444Arg)
c.13307A>G (p.Gln4436Arg)
c.13304A>G (p.Gln4435Arg)
c.13301A>G (p.Gln4434Arg)
c.13253A>G (p.Gln4418Arg)
c.13241A>G (p.Gln4414Arg)
c.13103A>G (p.Gln4368Arg)
c.12950A>G (p.Gln4317Arg)
Xg.53534058T>GCA413143895HUWE1c.12755A>C (p.Gln4252Pro)
c.12971A>C (p.Gln4324Pro)
c.3438A>C
n.284A>C
c.12944A>C (p.Gln4315Pro)
c.13220A>C (p.Gln4407Pro)
c.13217A>C (p.Gln4406Pro)
c.13175A>C (p.Gln4392Pro)
c.13172A>C (p.Gln4391Pro)
c.13169A>C (p.Gln4390Pro)
c.13121A>C (p.Gln4374Pro)
c.12818A>C (p.Gln4273Pro)
c.13352A>C (p.Gln4451Pro)
c.13349A>C (p.Gln4450Pro)
c.13331A>C (p.Gln4444Pro)
c.13307A>C (p.Gln4436Pro)
c.13304A>C (p.Gln4435Pro)
c.13301A>C (p.Gln4434Pro)
c.13253A>C (p.Gln4418Pro)
c.13241A>C (p.Gln4414Pro)
c.13103A>C (p.Gln4368Pro)
c.12950A>C (p.Gln4317Pro)
Xg.53534059G>ACA413143900HUWE1c.12754C>T (p.Gln4252Ter)
c.12970C>T (p.Gln4324Ter)
c.3437C>T
n.283C>T
c.12943C>T (p.Gln4315Ter)
c.13219C>T (p.Gln4407Ter)
c.13216C>T (p.Gln4406Ter)
c.13174C>T (p.Gln4392Ter)
c.13171C>T (p.Gln4391Ter)
c.13168C>T (p.Gln4390Ter)
c.13120C>T (p.Gln4374Ter)
c.12817C>T (p.Gln4273Ter)
c.13351C>T (p.Gln4451Ter)
c.13348C>T (p.Gln4450Ter)
c.13330C>T (p.Gln4444Ter)
c.13306C>T (p.Gln4436Ter)
c.13303C>T (p.Gln4435Ter)
c.13300C>T (p.Gln4434Ter)
c.13252C>T (p.Gln4418Ter)
c.13240C>T (p.Gln4414Ter)
c.13102C>T (p.Gln4368Ter)
c.12949C>T (p.Gln4317Ter)
Xg.53534059G>CCA413143904HUWE1c.12754C>G (p.Gln4252Glu)
c.12970C>G (p.Gln4324Glu)
c.3437C>G
n.283C>G
c.12943C>G (p.Gln4315Glu)
c.13219C>G (p.Gln4407Glu)
c.13216C>G (p.Gln4406Glu)
c.13174C>G (p.Gln4392Glu)
c.13171C>G (p.Gln4391Glu)
c.13168C>G (p.Gln4390Glu)
c.13120C>G (p.Gln4374Glu)
c.12817C>G (p.Gln4273Glu)
c.13351C>G (p.Gln4451Glu)
c.13348C>G (p.Gln4450Glu)
c.13330C>G (p.Gln4444Glu)
c.13306C>G (p.Gln4436Glu)
c.13303C>G (p.Gln4435Glu)
c.13300C>G (p.Gln4434Glu)
c.13252C>G (p.Gln4418Glu)
c.13240C>G (p.Gln4414Glu)
c.13102C>G (p.Gln4368Glu)
c.12949C>G (p.Gln4317Glu)
Xg.53534059G>TCA413143911HUWE1c.12754C>A (p.Gln4252Lys)
c.12970C>A (p.Gln4324Lys)
c.3437C>A
n.283C>A
c.12943C>A (p.Gln4315Lys)
c.13219C>A (p.Gln4407Lys)
c.13216C>A (p.Gln4406Lys)
c.13174C>A (p.Gln4392Lys)
c.13171C>A (p.Gln4391Lys)
c.13168C>A (p.Gln4390Lys)
c.13120C>A (p.Gln4374Lys)
c.12817C>A (p.Gln4273Lys)
c.13351C>A (p.Gln4451Lys)
c.13348C>A (p.Gln4450Lys)
c.13330C>A (p.Gln4444Lys)
c.13306C>A (p.Gln4436Lys)
c.13303C>A (p.Gln4435Lys)
c.13300C>A (p.Gln4434Lys)
c.13252C>A (p.Gln4418Lys)
c.13240C>A (p.Gln4414Lys)
c.13102C>A (p.Gln4368Lys)
c.12949C>A (p.Gln4317Lys)
Xg.53534060A>CCA413143916HUWE1c.12753T>G (p.Phe4251Leu)
c.12969T>G (p.Phe4323Leu)
c.3436T>G
n.282T>G
c.12942T>G (p.Phe4314Leu)
c.13218T>G (p.Phe4406Leu)
c.13215T>G (p.Phe4405Leu)
c.13173T>G (p.Phe4391Leu)
c.13170T>G (p.Phe4390Leu)
c.13167T>G (p.Phe4389Leu)
c.13119T>G (p.Phe4373Leu)
c.12816T>G (p.Phe4272Leu)
c.13350T>G (p.Phe4450Leu)
c.13347T>G (p.Phe4449Leu)
c.13329T>G (p.Phe4443Leu)
c.13305T>G (p.Phe4435Leu)
c.13302T>G (p.Phe4434Leu)
c.13299T>G (p.Phe4433Leu)
c.13251T>G (p.Phe4417Leu)
c.13239T>G (p.Phe4413Leu)
c.13101T>G (p.Phe4367Leu)
c.12948T>G (p.Phe4316Leu)
Xg.53534060A>GCA516418575HUWE1c.12753T>C (p.Phe4251=)
c.12969T>C (p.Phe4323=)
c.3436T>C
n.282T>C
c.12942T>C (p.Phe4314=)
c.13218T>C (p.Phe4406=)
c.13215T>C (p.Phe4405=)
c.13173T>C (p.Phe4391=)
c.13170T>C (p.Phe4390=)
c.13167T>C (p.Phe4389=)
c.13119T>C (p.Phe4373=)
c.12816T>C (p.Phe4272=)
c.13350T>C (p.Phe4450=)
c.13347T>C (p.Phe4449=)
c.13329T>C (p.Phe4443=)
c.13305T>C (p.Phe4435=)
c.13302T>C (p.Phe4434=)
c.13299T>C (p.Phe4433=)
c.13251T>C (p.Phe4417=)
c.13239T>C (p.Phe4413=)
c.13101T>C (p.Phe4367=)
c.12948T>C (p.Phe4316=)
Xg.53534060A>TCA413143917HUWE1c.12753T>A (p.Phe4251Leu)
c.12969T>A (p.Phe4323Leu)
c.3436T>A
n.282T>A
c.12942T>A (p.Phe4314Leu)
c.13218T>A (p.Phe4406Leu)
c.13215T>A (p.Phe4405Leu)
c.13173T>A (p.Phe4391Leu)
c.13170T>A (p.Phe4390Leu)
c.13167T>A (p.Phe4389Leu)
c.13119T>A (p.Phe4373Leu)
c.12816T>A (p.Phe4272Leu)
c.13350T>A (p.Phe4450Leu)
c.13347T>A (p.Phe4449Leu)
c.13329T>A (p.Phe4443Leu)
c.13305T>A (p.Phe4435Leu)
c.13302T>A (p.Phe4434Leu)
c.13299T>A (p.Phe4433Leu)
c.13251T>A (p.Phe4417Leu)
c.13239T>A (p.Phe4413Leu)
c.13101T>A (p.Phe4367Leu)
c.12948T>A (p.Phe4316Leu)
Xg.53534061A>CCA413143918HUWE1c.12752T>G (p.Phe4251Cys)
c.12968T>G (p.Phe4323Cys)
c.3435T>G
n.281T>G
c.12941T>G (p.Phe4314Cys)
c.13217T>G (p.Phe4406Cys)
c.13214T>G (p.Phe4405Cys)
c.13172T>G (p.Phe4391Cys)
c.13169T>G (p.Phe4390Cys)
c.13166T>G (p.Phe4389Cys)
c.13118T>G (p.Phe4373Cys)
c.12815T>G (p.Phe4272Cys)
c.13349T>G (p.Phe4450Cys)
c.13346T>G (p.Phe4449Cys)
c.13328T>G (p.Phe4443Cys)
c.13304T>G (p.Phe4435Cys)
c.13301T>G (p.Phe4434Cys)
c.13298T>G (p.Phe4433Cys)
c.13250T>G (p.Phe4417Cys)
c.13238T>G (p.Phe4413Cys)
c.13100T>G (p.Phe4367Cys)
c.12947T>G (p.Phe4316Cys)
Xg.53534061A>GCA413143920HUWE1c.12752T>C (p.Phe4251Ser)
c.12968T>C (p.Phe4323Ser)
c.3435T>C
n.281T>C
c.12941T>C (p.Phe4314Ser)
c.13217T>C (p.Phe4406Ser)
c.13214T>C (p.Phe4405Ser)
c.13172T>C (p.Phe4391Ser)
c.13169T>C (p.Phe4390Ser)
c.13166T>C (p.Phe4389Ser)
c.13118T>C (p.Phe4373Ser)
c.12815T>C (p.Phe4272Ser)
c.13349T>C (p.Phe4450Ser)
c.13346T>C (p.Phe4449Ser)
c.13328T>C (p.Phe4443Ser)
c.13304T>C (p.Phe4435Ser)
c.13301T>C (p.Phe4434Ser)
c.13298T>C (p.Phe4433Ser)
c.13250T>C (p.Phe4417Ser)
c.13238T>C (p.Phe4413Ser)
c.13100T>C (p.Phe4367Ser)
c.12947T>C (p.Phe4316Ser)
Xg.53534061A>TCA413143924HUWE1c.12752T>A (p.Phe4251Tyr)
c.12968T>A (p.Phe4323Tyr)
c.3435T>A
n.281T>A
c.12941T>A (p.Phe4314Tyr)
c.13217T>A (p.Phe4406Tyr)
c.13214T>A (p.Phe4405Tyr)
c.13172T>A (p.Phe4391Tyr)
c.13169T>A (p.Phe4390Tyr)
c.13166T>A (p.Phe4389Tyr)
c.13118T>A (p.Phe4373Tyr)
c.12815T>A (p.Phe4272Tyr)
c.13349T>A (p.Phe4450Tyr)
c.13346T>A (p.Phe4449Tyr)
c.13328T>A (p.Phe4443Tyr)
c.13304T>A (p.Phe4435Tyr)
c.13301T>A (p.Phe4434Tyr)
c.13298T>A (p.Phe4433Tyr)
c.13250T>A (p.Phe4417Tyr)
c.13238T>A (p.Phe4413Tyr)
c.13100T>A (p.Phe4367Tyr)
c.12947T>A (p.Phe4316Tyr)
Xg.53534062A>CCA413143936HUWE1c.12751T>G (p.Phe4251Val)
c.12967T>G (p.Phe4323Val)
c.3434T>G
n.280T>G
c.12940T>G (p.Phe4314Val)
c.13216T>G (p.Phe4406Val)
c.13213T>G (p.Phe4405Val)
c.13171T>G (p.Phe4391Val)
c.13168T>G (p.Phe4390Val)
c.13165T>G (p.Phe4389Val)
c.13117T>G (p.Phe4373Val)
c.12814T>G (p.Phe4272Val)
c.13348T>G (p.Phe4450Val)
c.13345T>G (p.Phe4449Val)
c.13327T>G (p.Phe4443Val)
c.13303T>G (p.Phe4435Val)
c.13300T>G (p.Phe4434Val)
c.13297T>G (p.Phe4433Val)
c.13249T>G (p.Phe4417Val)
c.13237T>G (p.Phe4413Val)
c.13099T>G (p.Phe4367Val)
c.12946T>G (p.Phe4316Val)
Xg.53534062A>GCA413143932HUWE1c.12751T>C (p.Phe4251Leu)
c.12967T>C (p.Phe4323Leu)
c.3434T>C
n.280T>C
c.12940T>C (p.Phe4314Leu)
c.13216T>C (p.Phe4406Leu)
c.13213T>C (p.Phe4405Leu)
c.13171T>C (p.Phe4391Leu)
c.13168T>C (p.Phe4390Leu)
c.13165T>C (p.Phe4389Leu)
c.13117T>C (p.Phe4373Leu)
c.12814T>C (p.Phe4272Leu)
c.13348T>C (p.Phe4450Leu)
c.13345T>C (p.Phe4449Leu)
c.13327T>C (p.Phe4443Leu)
c.13303T>C (p.Phe4435Leu)
c.13300T>C (p.Phe4434Leu)
c.13297T>C (p.Phe4433Leu)
c.13249T>C (p.Phe4417Leu)
c.13237T>C (p.Phe4413Leu)
c.13099T>C (p.Phe4367Leu)
c.12946T>C (p.Phe4316Leu)
Xg.53534062A>TCA413143928HUWE1c.12751T>A (p.Phe4251Ile)
c.12967T>A (p.Phe4323Ile)
c.3434T>A
n.280T>A
c.12940T>A (p.Phe4314Ile)
c.13216T>A (p.Phe4406Ile)
c.13213T>A (p.Phe4405Ile)
c.13171T>A (p.Phe4391Ile)
c.13168T>A (p.Phe4390Ile)
c.13165T>A (p.Phe4389Ile)
c.13117T>A (p.Phe4373Ile)
c.12814T>A (p.Phe4272Ile)
c.13348T>A (p.Phe4450Ile)
c.13345T>A (p.Phe4449Ile)
c.13327T>A (p.Phe4443Ile)
c.13303T>A (p.Phe4435Ile)
c.13300T>A (p.Phe4434Ile)
c.13297T>A (p.Phe4433Ile)
c.13249T>A (p.Phe4417Ile)
c.13237T>A (p.Phe4413Ile)
c.13099T>A (p.Phe4367Ile)
c.12946T>A (p.Phe4316Ile)
Xg.53534063C>ACA413143943HUWE1c.12750G>T (p.Lys4250Asn)
c.12966G>T (p.Lys4322Asn)
c.3433G>T
n.279G>T
c.12939G>T (p.Lys4313Asn)
c.13215G>T (p.Lys4405Asn)
c.13212G>T (p.Lys4404Asn)
c.13170G>T (p.Lys4390Asn)
c.13167G>T (p.Lys4389Asn)
c.13164G>T (p.Lys4388Asn)
c.13116G>T (p.Lys4372Asn)
c.12813G>T (p.Lys4271Asn)
c.13347G>T (p.Lys4449Asn)
c.13344G>T (p.Lys4448Asn)
c.13326G>T (p.Lys4442Asn)
c.13302G>T (p.Lys4434Asn)
c.13299G>T (p.Lys4433Asn)
c.13296G>T (p.Lys4432Asn)
c.13248G>T (p.Lys4416Asn)
c.13236G>T (p.Lys4412Asn)
c.13098G>T (p.Lys4366Asn)
c.12945G>T (p.Lys4315Asn)
Xg.53534063C=CA2429868898HUWE1c.12750G= (p.Lys4250=)
c.12966G= (p.Lys4322=)
c.3433G=
n.279G=
c.12939G= (p.Lys4313=)
c.13215G= (p.Lys4405=)
c.13212G= (p.Lys4404=)
c.13170G= (p.Lys4390=)
c.13167G= (p.Lys4389=)
c.13164G= (p.Lys4388=)
c.13116G= (p.Lys4372=)
c.12813G= (p.Lys4271=)
c.13347G= (p.Lys4449=)
c.13344G= (p.Lys4448=)
c.13326G= (p.Lys4442=)
c.13302G= (p.Lys4434=)
c.13299G= (p.Lys4433=)
c.13296G= (p.Lys4432=)
c.13248G= (p.Lys4416=)
c.13236G= (p.Lys4412=)
c.13098G= (p.Lys4366=)
c.12945G= (p.Lys4315=)
Xg.53534063C>GCA413143945HUWE1c.12750G>C (p.Lys4250Asn)
c.12966G>C (p.Lys4322Asn)
c.3433G>C
n.279G>C
c.12939G>C (p.Lys4313Asn)
c.13215G>C (p.Lys4405Asn)
c.13212G>C (p.Lys4404Asn)
c.13170G>C (p.Lys4390Asn)
c.13167G>C (p.Lys4389Asn)
c.13164G>C (p.Lys4388Asn)
c.13116G>C (p.Lys4372Asn)
c.12813G>C (p.Lys4271Asn)
c.13347G>C (p.Lys4449Asn)
c.13344G>C (p.Lys4448Asn)
c.13326G>C (p.Lys4442Asn)
c.13302G>C (p.Lys4434Asn)
c.13299G>C (p.Lys4433Asn)
c.13296G>C (p.Lys4432Asn)
c.13248G>C (p.Lys4416Asn)
c.13236G>C (p.Lys4412Asn)
c.13098G>C (p.Lys4366Asn)
c.12945G>C (p.Lys4315Asn)
Xg.53534063C>TCA516418603HUWE1c.12750G>A (p.Lys4250=)
c.12966G>A (p.Lys4322=)
c.3433G>A
n.279G>A
c.12939G>A (p.Lys4313=)
c.13215G>A (p.Lys4405=)
c.13212G>A (p.Lys4404=)
c.13170G>A (p.Lys4390=)
c.13167G>A (p.Lys4389=)
c.13164G>A (p.Lys4388=)
c.13116G>A (p.Lys4372=)
c.12813G>A (p.Lys4271=)
c.13347G>A (p.Lys4449=)
c.13344G>A (p.Lys4448=)
c.13326G>A (p.Lys4442=)
c.13302G>A (p.Lys4434=)
c.13299G>A (p.Lys4433=)
c.13296G>A (p.Lys4432=)
c.13248G>A (p.Lys4416=)
c.13236G>A (p.Lys4412=)
c.13098G>A (p.Lys4366=)
c.12945G>A (p.Lys4315=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53534064T>ACA413143950HUWE1c.12749A>T (p.Lys4250Met)
c.12965A>T (p.Lys4322Met)
c.3432A>T
n.278A>T
c.12938A>T (p.Lys4313Met)
c.13214A>T (p.Lys4405Met)
c.13211A>T (p.Lys4404Met)
c.13169A>T (p.Lys4390Met)
c.13166A>T (p.Lys4389Met)
c.13163A>T (p.Lys4388Met)
c.13115A>T (p.Lys4372Met)
c.12812A>T (p.Lys4271Met)
c.13346A>T (p.Lys4449Met)
c.13343A>T (p.Lys4448Met)
c.13325A>T (p.Lys4442Met)
c.13301A>T (p.Lys4434Met)
c.13298A>T (p.Lys4433Met)
c.13295A>T (p.Lys4432Met)
c.13247A>T (p.Lys4416Met)
c.13235A>T (p.Lys4412Met)
c.13097A>T (p.Lys4366Met)
c.12944A>T (p.Lys4315Met)
Xg.53534064T>CCA413143956HUWE1c.12749A>G (p.Lys4250Arg)
c.12965A>G (p.Lys4322Arg)
c.3432A>G
n.278A>G
c.12938A>G (p.Lys4313Arg)
c.13214A>G (p.Lys4405Arg)
c.13211A>G (p.Lys4404Arg)
c.13169A>G (p.Lys4390Arg)
c.13166A>G (p.Lys4389Arg)
c.13163A>G (p.Lys4388Arg)
c.13115A>G (p.Lys4372Arg)
c.12812A>G (p.Lys4271Arg)
c.13346A>G (p.Lys4449Arg)
c.13343A>G (p.Lys4448Arg)
c.13325A>G (p.Lys4442Arg)
c.13301A>G (p.Lys4434Arg)
c.13298A>G (p.Lys4433Arg)
c.13295A>G (p.Lys4432Arg)
c.13247A>G (p.Lys4416Arg)
c.13235A>G (p.Lys4412Arg)
c.13097A>G (p.Lys4366Arg)
c.12944A>G (p.Lys4315Arg)
Xg.53534064T>GCA413143961HUWE1c.12749A>C (p.Lys4250Thr)
c.12965A>C (p.Lys4322Thr)
c.3432A>C
n.278A>C
c.12938A>C (p.Lys4313Thr)
c.13214A>C (p.Lys4405Thr)
c.13211A>C (p.Lys4404Thr)
c.13169A>C (p.Lys4390Thr)
c.13166A>C (p.Lys4389Thr)
c.13163A>C (p.Lys4388Thr)
c.13115A>C (p.Lys4372Thr)
c.12812A>C (p.Lys4271Thr)
c.13346A>C (p.Lys4449Thr)
c.13343A>C (p.Lys4448Thr)
c.13325A>C (p.Lys4442Thr)
c.13301A>C (p.Lys4434Thr)
c.13298A>C (p.Lys4433Thr)
c.13295A>C (p.Lys4432Thr)
c.13247A>C (p.Lys4416Thr)
c.13235A>C (p.Lys4412Thr)
c.13097A>C (p.Lys4366Thr)
c.12944A>C (p.Lys4315Thr)
Xg.53534065T>ACA413143962HUWE1c.12748A>T (p.Lys4250Ter)
c.12964A>T (p.Lys4322Ter)
c.3431A>T
n.277A>T
c.12937A>T (p.Lys4313Ter)
c.13213A>T (p.Lys4405Ter)
c.13210A>T (p.Lys4404Ter)
c.13168A>T (p.Lys4390Ter)
c.13165A>T (p.Lys4389Ter)
c.13162A>T (p.Lys4388Ter)
c.13114A>T (p.Lys4372Ter)
c.12811A>T (p.Lys4271Ter)
c.13345A>T (p.Lys4449Ter)
c.13342A>T (p.Lys4448Ter)
c.13324A>T (p.Lys4442Ter)
c.13300A>T (p.Lys4434Ter)
c.13297A>T (p.Lys4433Ter)
c.13294A>T (p.Lys4432Ter)
c.13246A>T (p.Lys4416Ter)
c.13234A>T (p.Lys4412Ter)
c.13096A>T (p.Lys4366Ter)
c.12943A>T (p.Lys4315Ter)
Xg.53534065T>CCA413143963HUWE1c.12748A>G (p.Lys4250Glu)
c.12964A>G (p.Lys4322Glu)
c.3431A>G
n.277A>G
c.12937A>G (p.Lys4313Glu)
c.13213A>G (p.Lys4405Glu)
c.13210A>G (p.Lys4404Glu)
c.13168A>G (p.Lys4390Glu)
c.13165A>G (p.Lys4389Glu)
c.13162A>G (p.Lys4388Glu)
c.13114A>G (p.Lys4372Glu)
c.12811A>G (p.Lys4271Glu)
c.13345A>G (p.Lys4449Glu)
c.13342A>G (p.Lys4448Glu)
c.13324A>G (p.Lys4442Glu)
c.13300A>G (p.Lys4434Glu)
c.13297A>G (p.Lys4433Glu)
c.13294A>G (p.Lys4432Glu)
c.13246A>G (p.Lys4416Glu)
c.13234A>G (p.Lys4412Glu)
c.13096A>G (p.Lys4366Glu)
c.12943A>G (p.Lys4315Glu)
Xg.53534065T>GCA413143964HUWE1c.12748A>C (p.Lys4250Gln)
c.12964A>C (p.Lys4322Gln)
c.3431A>C
n.277A>C
c.12937A>C (p.Lys4313Gln)
c.13213A>C (p.Lys4405Gln)
c.13210A>C (p.Lys4404Gln)
c.13168A>C (p.Lys4390Gln)
c.13165A>C (p.Lys4389Gln)
c.13162A>C (p.Lys4388Gln)
c.13114A>C (p.Lys4372Gln)
c.12811A>C (p.Lys4271Gln)
c.13345A>C (p.Lys4449Gln)
c.13342A>C (p.Lys4448Gln)
c.13324A>C (p.Lys4442Gln)
c.13300A>C (p.Lys4434Gln)
c.13297A>C (p.Lys4433Gln)
c.13294A>C (p.Lys4432Gln)
c.13246A>C (p.Lys4416Gln)
c.13234A>C (p.Lys4412Gln)
c.13096A>C (p.Lys4366Gln)
c.12943A>C (p.Lys4315Gln)
Xg.53534066C>ACA413143967HUWE1c.12747G>T (p.Gln4249His)
c.12963G>T (p.Gln4321His)
c.3430G>T
n.276G>T
c.12936G>T (p.Gln4312His)
c.13212G>T (p.Gln4404His)
c.13209G>T (p.Gln4403His)
c.13167G>T (p.Gln4389His)
c.13164G>T (p.Gln4388His)
c.13161G>T (p.Gln4387His)
c.13113G>T (p.Gln4371His)
c.12810G>T (p.Gln4270His)
c.13344G>T (p.Gln4448His)
c.13341G>T (p.Gln4447His)
c.13323G>T (p.Gln4441His)
c.13299G>T (p.Gln4433His)
c.13296G>T (p.Gln4432His)
c.13293G>T (p.Gln4431His)
c.13245G>T (p.Gln4415His)
c.13233G>T (p.Gln4411His)
c.13095G>T (p.Gln4365His)
c.12942G>T (p.Gln4314His)
Xg.53534066C>GCA413143975HUWE1c.12747G>C (p.Gln4249His)
c.12963G>C (p.Gln4321His)
c.3430G>C
n.276G>C
c.12936G>C (p.Gln4312His)
c.13212G>C (p.Gln4404His)
c.13209G>C (p.Gln4403His)
c.13167G>C (p.Gln4389His)
c.13164G>C (p.Gln4388His)
c.13161G>C (p.Gln4387His)
c.13113G>C (p.Gln4371His)
c.12810G>C (p.Gln4270His)
c.13344G>C (p.Gln4448His)
c.13341G>C (p.Gln4447His)
c.13323G>C (p.Gln4441His)
c.13299G>C (p.Gln4433His)
c.13296G>C (p.Gln4432His)
c.13293G>C (p.Gln4431His)
c.13245G>C (p.Gln4415His)
c.13233G>C (p.Gln4411His)
c.13095G>C (p.Gln4365His)
c.12942G>C (p.Gln4314His)
Xg.53534066C>TCA516418623HUWE1c.12747G>A (p.Gln4249=)
c.12963G>A (p.Gln4321=)
c.3430G>A
n.276G>A
c.12936G>A (p.Gln4312=)
c.13212G>A (p.Gln4404=)
c.13209G>A (p.Gln4403=)
c.13167G>A (p.Gln4389=)
c.13164G>A (p.Gln4388=)
c.13161G>A (p.Gln4387=)
c.13113G>A (p.Gln4371=)
c.12810G>A (p.Gln4270=)
c.13344G>A (p.Gln4448=)
c.13341G>A (p.Gln4447=)
c.13323G>A (p.Gln4441=)
c.13299G>A (p.Gln4433=)
c.13296G>A (p.Gln4432=)
c.13293G>A (p.Gln4431=)
c.13245G>A (p.Gln4415=)
c.13233G>A (p.Gln4411=)
c.13095G>A (p.Gln4365=)
c.12942G>A (p.Gln4314=)
Xg.53534067T>ACA413143980HUWE1c.12746A>T (p.Gln4249Leu)
c.12962A>T (p.Gln4321Leu)
c.3429A>T
n.275A>T
c.12935A>T (p.Gln4312Leu)
c.13211A>T (p.Gln4404Leu)
c.13208A>T (p.Gln4403Leu)
c.13166A>T (p.Gln4389Leu)
c.13163A>T (p.Gln4388Leu)
c.13160A>T (p.Gln4387Leu)
c.13112A>T (p.Gln4371Leu)
c.12809A>T (p.Gln4270Leu)
c.13343A>T (p.Gln4448Leu)
c.13340A>T (p.Gln4447Leu)
c.13322A>T (p.Gln4441Leu)
c.13298A>T (p.Gln4433Leu)
c.13295A>T (p.Gln4432Leu)
c.13292A>T (p.Gln4431Leu)
c.13244A>T (p.Gln4415Leu)
c.13232A>T (p.Gln4411Leu)
c.13094A>T (p.Gln4365Leu)
c.12941A>T (p.Gln4314Leu)
Xg.53534067T>CCA413143984HUWE1c.12746A>G (p.Gln4249Arg)
c.12962A>G (p.Gln4321Arg)
c.3429A>G
n.275A>G
c.12935A>G (p.Gln4312Arg)
c.13211A>G (p.Gln4404Arg)
c.13208A>G (p.Gln4403Arg)
c.13166A>G (p.Gln4389Arg)
c.13163A>G (p.Gln4388Arg)
c.13160A>G (p.Gln4387Arg)
c.13112A>G (p.Gln4371Arg)
c.12809A>G (p.Gln4270Arg)
c.13343A>G (p.Gln4448Arg)
c.13340A>G (p.Gln4447Arg)
c.13322A>G (p.Gln4441Arg)
c.13298A>G (p.Gln4433Arg)
c.13295A>G (p.Gln4432Arg)
c.13292A>G (p.Gln4431Arg)
c.13244A>G (p.Gln4415Arg)
c.13232A>G (p.Gln4411Arg)
c.13094A>G (p.Gln4365Arg)
c.12941A>G (p.Gln4314Arg)
Xg.53534067T>GCA413143990HUWE1c.12746A>C (p.Gln4249Pro)
c.12962A>C (p.Gln4321Pro)
c.3429A>C
n.275A>C
c.12935A>C (p.Gln4312Pro)
c.13211A>C (p.Gln4404Pro)
c.13208A>C (p.Gln4403Pro)
c.13166A>C (p.Gln4389Pro)
c.13163A>C (p.Gln4388Pro)
c.13160A>C (p.Gln4387Pro)
c.13112A>C (p.Gln4371Pro)
c.12809A>C (p.Gln4270Pro)
c.13343A>C (p.Gln4448Pro)
c.13340A>C (p.Gln4447Pro)
c.13322A>C (p.Gln4441Pro)
c.13298A>C (p.Gln4433Pro)
c.13295A>C (p.Gln4432Pro)
c.13292A>C (p.Gln4431Pro)
c.13244A>C (p.Gln4415Pro)
c.13232A>C (p.Gln4411Pro)
c.13094A>C (p.Gln4365Pro)
c.12941A>C (p.Gln4314Pro)
Xg.53534068G>ACA413144007HUWE1c.12745C>T (p.Gln4249Ter)
c.12961C>T (p.Gln4321Ter)
c.3428C>T
n.274C>T
c.12934C>T (p.Gln4312Ter)
c.13210C>T (p.Gln4404Ter)
c.13207C>T (p.Gln4403Ter)
c.13165C>T (p.Gln4389Ter)
c.13162C>T (p.Gln4388Ter)
c.13159C>T (p.Gln4387Ter)
c.13111C>T (p.Gln4371Ter)
c.12808C>T (p.Gln4270Ter)
c.13342C>T (p.Gln4448Ter)
c.13339C>T (p.Gln4447Ter)
c.13321C>T (p.Gln4441Ter)
c.13297C>T (p.Gln4433Ter)
c.13294C>T (p.Gln4432Ter)
c.13291C>T (p.Gln4431Ter)
c.13243C>T (p.Gln4415Ter)
c.13231C>T (p.Gln4411Ter)
c.13093C>T (p.Gln4365Ter)
c.12940C>T (p.Gln4314Ter)
Xg.53534068G>CCA413143996HUWE1c.12745C>G (p.Gln4249Glu)
c.12961C>G (p.Gln4321Glu)
c.3428C>G
n.274C>G
c.12934C>G (p.Gln4312Glu)
c.13210C>G (p.Gln4404Glu)
c.13207C>G (p.Gln4403Glu)
c.13165C>G (p.Gln4389Glu)
c.13162C>G (p.Gln4388Glu)
c.13159C>G (p.Gln4387Glu)
c.13111C>G (p.Gln4371Glu)
c.12808C>G (p.Gln4270Glu)
c.13342C>G (p.Gln4448Glu)
c.13339C>G (p.Gln4447Glu)
c.13321C>G (p.Gln4441Glu)
c.13297C>G (p.Gln4433Glu)
c.13294C>G (p.Gln4432Glu)
c.13291C>G (p.Gln4431Glu)
c.13243C>G (p.Gln4415Glu)
c.13231C>G (p.Gln4411Glu)
c.13093C>G (p.Gln4365Glu)
c.12940C>G (p.Gln4314Glu)
Xg.53534068G>TCA413144000HUWE1c.12745C>A (p.Gln4249Lys)
c.12961C>A (p.Gln4321Lys)
c.3428C>A
n.274C>A
c.12934C>A (p.Gln4312Lys)
c.13210C>A (p.Gln4404Lys)
c.13207C>A (p.Gln4403Lys)
c.13165C>A (p.Gln4389Lys)
c.13162C>A (p.Gln4388Lys)
c.13159C>A (p.Gln4387Lys)
c.13111C>A (p.Gln4371Lys)
c.12808C>A (p.Gln4270Lys)
c.13342C>A (p.Gln4448Lys)
c.13339C>A (p.Gln4447Lys)
c.13321C>A (p.Gln4441Lys)
c.13297C>A (p.Gln4433Lys)
c.13294C>A (p.Gln4432Lys)
c.13291C>A (p.Gln4431Lys)
c.13243C>A (p.Gln4415Lys)
c.13231C>A (p.Gln4411Lys)
c.13093C>A (p.Gln4365Lys)
c.12940C>A (p.Gln4314Lys)
Xg.53534069A>CCA413144010HUWE1c.12744T>G (p.Ile4248Met)
c.12960T>G (p.Ile4320Met)
c.3427T>G
n.273T>G
c.12933T>G (p.Ile4311Met)
c.13209T>G (p.Ile4403Met)
c.13206T>G (p.Ile4402Met)
c.13164T>G (p.Ile4388Met)
c.13161T>G (p.Ile4387Met)
c.13158T>G (p.Ile4386Met)
c.13110T>G (p.Ile4370Met)
c.12807T>G (p.Ile4269Met)
c.13341T>G (p.Ile4447Met)
c.13338T>G (p.Ile4446Met)
c.13320T>G (p.Ile4440Met)
c.13296T>G (p.Ile4432Met)
c.13293T>G (p.Ile4431Met)
c.13290T>G (p.Ile4430Met)
c.13242T>G (p.Ile4414Met)
c.13230T>G (p.Ile4410Met)
c.13092T>G (p.Ile4364Met)
c.12939T>G (p.Ile4313Met)
Xg.53534069A>GCA516418640HUWE1c.12744T>C (p.Ile4248=)
c.12960T>C (p.Ile4320=)
c.3427T>C
n.273T>C
c.12933T>C (p.Ile4311=)
c.13209T>C (p.Ile4403=)
c.13206T>C (p.Ile4402=)
c.13164T>C (p.Ile4388=)
c.13161T>C (p.Ile4387=)
c.13158T>C (p.Ile4386=)
c.13110T>C (p.Ile4370=)
c.12807T>C (p.Ile4269=)
c.13341T>C (p.Ile4447=)
c.13338T>C (p.Ile4446=)
c.13320T>C (p.Ile4440=)
c.13296T>C (p.Ile4432=)
c.13293T>C (p.Ile4431=)
c.13290T>C (p.Ile4430=)
c.13242T>C (p.Ile4414=)
c.13230T>C (p.Ile4410=)
c.13092T>C (p.Ile4364=)
c.12939T>C (p.Ile4313=)
Xg.53534069A>TCA516418642HUWE1c.12744T>A (p.Ile4248=)
c.12960T>A (p.Ile4320=)
c.3427T>A
n.273T>A
c.12933T>A (p.Ile4311=)
c.13209T>A (p.Ile4403=)
c.13206T>A (p.Ile4402=)
c.13164T>A (p.Ile4388=)
c.13161T>A (p.Ile4387=)
c.13158T>A (p.Ile4386=)
c.13110T>A (p.Ile4370=)
c.12807T>A (p.Ile4269=)
c.13341T>A (p.Ile4447=)
c.13338T>A (p.Ile4446=)
c.13320T>A (p.Ile4440=)
c.13296T>A (p.Ile4432=)
c.13293T>A (p.Ile4431=)
c.13290T>A (p.Ile4430=)
c.13242T>A (p.Ile4414=)
c.13230T>A (p.Ile4410=)
c.13092T>A (p.Ile4364=)
c.12939T>A (p.Ile4313=)
Xg.53534070A=CA2429868899HUWE1c.12743T= (p.Ile4248=)
c.12959T= (p.Ile4320=)
c.3426T=
n.272T=
c.12932T= (p.Ile4311=)
c.13208T= (p.Ile4403=)
c.13205T= (p.Ile4402=)
c.13163T= (p.Ile4388=)
c.13160T= (p.Ile4387=)
c.13157T= (p.Ile4386=)
c.13109T= (p.Ile4370=)
c.12806T= (p.Ile4269=)
c.13340T= (p.Ile4447=)
c.13337T= (p.Ile4446=)
c.13319T= (p.Ile4440=)
c.13295T= (p.Ile4432=)
c.13292T= (p.Ile4431=)
c.13289T= (p.Ile4430=)
c.13241T= (p.Ile4414=)
c.13229T= (p.Ile4410=)
c.13091T= (p.Ile4364=)
c.12938T= (p.Ile4313=)
Xg.53534070A>CCA10421112HUWE1c.12743T>G (p.Ile4248Ser)
c.12959T>G (p.Ile4320Ser)
c.3426T>G
n.272T>G
c.12932T>G (p.Ile4311Ser)
c.13208T>G (p.Ile4403Ser)
c.13205T>G (p.Ile4402Ser)
c.13163T>G (p.Ile4388Ser)
c.13160T>G (p.Ile4387Ser)
c.13157T>G (p.Ile4386Ser)
c.13109T>G (p.Ile4370Ser)
c.12806T>G (p.Ile4269Ser)
c.13340T>G (p.Ile4447Ser)
c.13337T>G (p.Ile4446Ser)
c.13319T>G (p.Ile4440Ser)
c.13295T>G (p.Ile4432Ser)
c.13292T>G (p.Ile4431Ser)
c.13289T>G (p.Ile4430Ser)
c.13241T>G (p.Ile4414Ser)
c.13229T>G (p.Ile4410Ser)
c.13091T>G (p.Ile4364Ser)
c.12938T>G (p.Ile4313Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534070A>GCA413144013HUWE1c.12743T>C (p.Ile4248Thr)
c.12959T>C (p.Ile4320Thr)
c.3426T>C
n.272T>C
c.12932T>C (p.Ile4311Thr)
c.13208T>C (p.Ile4403Thr)
c.13205T>C (p.Ile4402Thr)
c.13163T>C (p.Ile4388Thr)
c.13160T>C (p.Ile4387Thr)
c.13157T>C (p.Ile4386Thr)
c.13109T>C (p.Ile4370Thr)
c.12806T>C (p.Ile4269Thr)
c.13340T>C (p.Ile4447Thr)
c.13337T>C (p.Ile4446Thr)
c.13319T>C (p.Ile4440Thr)
c.13295T>C (p.Ile4432Thr)
c.13292T>C (p.Ile4431Thr)
c.13289T>C (p.Ile4430Thr)
c.13241T>C (p.Ile4414Thr)
c.13229T>C (p.Ile4410Thr)
c.13091T>C (p.Ile4364Thr)
c.12938T>C (p.Ile4313Thr)
Xg.53534070A>TCA413144017HUWE1c.12743T>A (p.Ile4248Asn)
c.12959T>A (p.Ile4320Asn)
c.3426T>A
n.272T>A
c.12932T>A (p.Ile4311Asn)
c.13208T>A (p.Ile4403Asn)
c.13205T>A (p.Ile4402Asn)
c.13163T>A (p.Ile4388Asn)
c.13160T>A (p.Ile4387Asn)
c.13157T>A (p.Ile4386Asn)
c.13109T>A (p.Ile4370Asn)
c.12806T>A (p.Ile4269Asn)
c.13340T>A (p.Ile4447Asn)
c.13337T>A (p.Ile4446Asn)
c.13319T>A (p.Ile4440Asn)
c.13295T>A (p.Ile4432Asn)
c.13292T>A (p.Ile4431Asn)
c.13289T>A (p.Ile4430Asn)
c.13241T>A (p.Ile4414Asn)
c.13229T>A (p.Ile4410Asn)
c.13091T>A (p.Ile4364Asn)
c.12938T>A (p.Ile4313Asn)
Xg.53534071T>ACA413144023HUWE1c.12742A>T (p.Ile4248Phe)
c.12958A>T (p.Ile4320Phe)
c.3425A>T
n.271A>T
c.12931A>T (p.Ile4311Phe)
c.13207A>T (p.Ile4403Phe)
c.13204A>T (p.Ile4402Phe)
c.13162A>T (p.Ile4388Phe)
c.13159A>T (p.Ile4387Phe)
c.13156A>T (p.Ile4386Phe)
c.13108A>T (p.Ile4370Phe)
c.12805A>T (p.Ile4269Phe)
c.13339A>T (p.Ile4447Phe)
c.13336A>T (p.Ile4446Phe)
c.13318A>T (p.Ile4440Phe)
c.13294A>T (p.Ile4432Phe)
c.13291A>T (p.Ile4431Phe)
c.13288A>T (p.Ile4430Phe)
c.13240A>T (p.Ile4414Phe)
c.13228A>T (p.Ile4410Phe)
c.13090A>T (p.Ile4364Phe)
c.12937A>T (p.Ile4313Phe)
 ClinVar dbSNP
Xg.53534071T>CCA413144040HUWE1c.12742A>G (p.Ile4248Val)
c.12958A>G (p.Ile4320Val)
c.3425A>G
n.271A>G
c.12931A>G (p.Ile4311Val)
c.13207A>G (p.Ile4403Val)
c.13204A>G (p.Ile4402Val)
c.13162A>G (p.Ile4388Val)
c.13159A>G (p.Ile4387Val)
c.13156A>G (p.Ile4386Val)
c.13108A>G (p.Ile4370Val)
c.12805A>G (p.Ile4269Val)
c.13339A>G (p.Ile4447Val)
c.13336A>G (p.Ile4446Val)
c.13318A>G (p.Ile4440Val)
c.13294A>G (p.Ile4432Val)
c.13291A>G (p.Ile4431Val)
c.13288A>G (p.Ile4430Val)
c.13240A>G (p.Ile4414Val)
c.13228A>G (p.Ile4410Val)
c.13090A>G (p.Ile4364Val)
c.12937A>G (p.Ile4313Val)
Xg.53534071T>GCA413144045HUWE1c.12742A>C (p.Ile4248Leu)
c.12958A>C (p.Ile4320Leu)
c.3425A>C
n.271A>C
c.12931A>C (p.Ile4311Leu)
c.13207A>C (p.Ile4403Leu)
c.13204A>C (p.Ile4402Leu)
c.13162A>C (p.Ile4388Leu)
c.13159A>C (p.Ile4387Leu)
c.13156A>C (p.Ile4386Leu)
c.13108A>C (p.Ile4370Leu)
c.12805A>C (p.Ile4269Leu)
c.13339A>C (p.Ile4447Leu)
c.13336A>C (p.Ile4446Leu)
c.13318A>C (p.Ile4440Leu)
c.13294A>C (p.Ile4432Leu)
c.13291A>C (p.Ile4431Leu)
c.13288A>C (p.Ile4430Leu)
c.13240A>C (p.Ile4414Leu)
c.13228A>C (p.Ile4410Leu)
c.13090A>C (p.Ile4364Leu)
c.12937A>C (p.Ile4313Leu)
Xg.53534071T=CA2429868900HUWE1c.12742A= (p.Ile4248=)
c.12958A= (p.Ile4320=)
c.3425A=
n.271A=
c.12931A= (p.Ile4311=)
c.13207A= (p.Ile4403=)
c.13204A= (p.Ile4402=)
c.13162A= (p.Ile4388=)
c.13159A= (p.Ile4387=)
c.13156A= (p.Ile4386=)
c.13108A= (p.Ile4370=)
c.12805A= (p.Ile4269=)
c.13339A= (p.Ile4447=)
c.13336A= (p.Ile4446=)
c.13318A= (p.Ile4440=)
c.13294A= (p.Ile4432=)
c.13291A= (p.Ile4431=)
c.13288A= (p.Ile4430=)
c.13240A= (p.Ile4414=)
c.13228A= (p.Ile4410=)
c.13090A= (p.Ile4364=)
c.12937A= (p.Ile4313=)
Xg.53534072G>ACA10421113HUWE1c.12741C>T (p.Gly4247=)
c.12957C>T (p.Gly4319=)
c.3424C>T
n.270C>T
c.12930C>T (p.Gly4310=)
c.13206C>T (p.Gly4402=)
c.13203C>T (p.Gly4401=)
c.13161C>T (p.Gly4387=)
c.13158C>T (p.Gly4386=)
c.13155C>T (p.Gly4385=)
c.13107C>T (p.Gly4369=)
c.12804C>T (p.Gly4268=)
c.13338C>T (p.Gly4446=)
c.13335C>T (p.Gly4445=)
c.13317C>T (p.Gly4439=)
c.13293C>T (p.Gly4431=)
c.13290C>T (p.Gly4430=)
c.13287C>T (p.Gly4429=)
c.13239C>T (p.Gly4413=)
c.13227C>T (p.Gly4409=)
c.13089C>T (p.Gly4363=)
c.12936C>T (p.Gly4312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534072G>CCA516418654HUWE1c.12741C>G (p.Gly4247=)
c.12957C>G (p.Gly4319=)
c.3424C>G
n.270C>G
c.12930C>G (p.Gly4310=)
c.13206C>G (p.Gly4402=)
c.13203C>G (p.Gly4401=)
c.13161C>G (p.Gly4387=)
c.13158C>G (p.Gly4386=)
c.13155C>G (p.Gly4385=)
c.13107C>G (p.Gly4369=)
c.12804C>G (p.Gly4268=)
c.13338C>G (p.Gly4446=)
c.13335C>G (p.Gly4445=)
c.13317C>G (p.Gly4439=)
c.13293C>G (p.Gly4431=)
c.13290C>G (p.Gly4430=)
c.13287C>G (p.Gly4429=)
c.13239C>G (p.Gly4413=)
c.13227C>G (p.Gly4409=)
c.13089C>G (p.Gly4363=)
c.12936C>G (p.Gly4312=)
Xg.53534072G=CA2429868901HUWE1c.12741C= (p.Gly4247=)
c.12957C= (p.Gly4319=)
c.3424C=
n.270C=
c.12930C= (p.Gly4310=)
c.13206C= (p.Gly4402=)
c.13203C= (p.Gly4401=)
c.13161C= (p.Gly4387=)
c.13158C= (p.Gly4386=)
c.13155C= (p.Gly4385=)
c.13107C= (p.Gly4369=)
c.12804C= (p.Gly4268=)
c.13338C= (p.Gly4446=)
c.13335C= (p.Gly4445=)
c.13317C= (p.Gly4439=)
c.13293C= (p.Gly4431=)
c.13290C= (p.Gly4430=)
c.13287C= (p.Gly4429=)
c.13239C= (p.Gly4413=)
c.13227C= (p.Gly4409=)
c.13089C= (p.Gly4363=)
c.12936C= (p.Gly4312=)
Xg.53534072G>TCA516418655HUWE1c.12741C>A (p.Gly4247=)
c.12957C>A (p.Gly4319=)
c.3424C>A
n.270C>A
c.12930C>A (p.Gly4310=)
c.13206C>A (p.Gly4402=)
c.13203C>A (p.Gly4401=)
c.13161C>A (p.Gly4387=)
c.13158C>A (p.Gly4386=)
c.13155C>A (p.Gly4385=)
c.13107C>A (p.Gly4369=)
c.12804C>A (p.Gly4268=)
c.13338C>A (p.Gly4446=)
c.13335C>A (p.Gly4445=)
c.13317C>A (p.Gly4439=)
c.13293C>A (p.Gly4431=)
c.13290C>A (p.Gly4430=)
c.13287C>A (p.Gly4429=)
c.13239C>A (p.Gly4413=)
c.13227C>A (p.Gly4409=)
c.13089C>A (p.Gly4363=)
c.12936C>A (p.Gly4312=)
Xg.53534073C>ACA413144052HUWE1c.12740G>T (p.Gly4247Val)
c.12956G>T (p.Gly4319Val)
c.3423G>T
n.269G>T
c.12929G>T (p.Gly4310Val)
c.13205G>T (p.Gly4402Val)
c.13202G>T (p.Gly4401Val)
c.13160G>T (p.Gly4387Val)
c.13157G>T (p.Gly4386Val)
c.13154G>T (p.Gly4385Val)
c.13106G>T (p.Gly4369Val)
c.12803G>T (p.Gly4268Val)
c.13337G>T (p.Gly4446Val)
c.13334G>T (p.Gly4445Val)
c.13316G>T (p.Gly4439Val)
c.13292G>T (p.Gly4431Val)
c.13289G>T (p.Gly4430Val)
c.13286G>T (p.Gly4429Val)
c.13238G>T (p.Gly4413Val)
c.13226G>T (p.Gly4409Val)
c.13088G>T (p.Gly4363Val)
c.12935G>T (p.Gly4312Val)
Xg.53534073C>GCA413144056HUWE1c.12740G>C (p.Gly4247Ala)
c.12956G>C (p.Gly4319Ala)
c.3423G>C
n.269G>C
c.12929G>C (p.Gly4310Ala)
c.13205G>C (p.Gly4402Ala)
c.13202G>C (p.Gly4401Ala)
c.13160G>C (p.Gly4387Ala)
c.13157G>C (p.Gly4386Ala)
c.13154G>C (p.Gly4385Ala)
c.13106G>C (p.Gly4369Ala)
c.12803G>C (p.Gly4268Ala)
c.13337G>C (p.Gly4446Ala)
c.13334G>C (p.Gly4445Ala)
c.13316G>C (p.Gly4439Ala)
c.13292G>C (p.Gly4431Ala)
c.13289G>C (p.Gly4430Ala)
c.13286G>C (p.Gly4429Ala)
c.13238G>C (p.Gly4413Ala)
c.13226G>C (p.Gly4409Ala)
c.13088G>C (p.Gly4363Ala)
c.12935G>C (p.Gly4312Ala)
Xg.53534073C>TCA413144057HUWE1c.12740G>A (p.Gly4247Asp)
c.12956G>A (p.Gly4319Asp)
c.3423G>A
n.269G>A
c.12929G>A (p.Gly4310Asp)
c.13205G>A (p.Gly4402Asp)
c.13202G>A (p.Gly4401Asp)
c.13160G>A (p.Gly4387Asp)
c.13157G>A (p.Gly4386Asp)
c.13154G>A (p.Gly4385Asp)
c.13106G>A (p.Gly4369Asp)
c.12803G>A (p.Gly4268Asp)
c.13337G>A (p.Gly4446Asp)
c.13334G>A (p.Gly4445Asp)
c.13316G>A (p.Gly4439Asp)
c.13292G>A (p.Gly4431Asp)
c.13289G>A (p.Gly4430Asp)
c.13286G>A (p.Gly4429Asp)
c.13238G>A (p.Gly4413Asp)
c.13226G>A (p.Gly4409Asp)
c.13088G>A (p.Gly4363Asp)
c.12935G>A (p.Gly4312Asp)
Xg.53534074C>ACA413144058HUWE1c.12739G>T (p.Gly4247Cys)
c.12955G>T (p.Gly4319Cys)
c.3422G>T
n.268G>T
c.12928G>T (p.Gly4310Cys)
c.13204G>T (p.Gly4402Cys)
c.13201G>T (p.Gly4401Cys)
c.13159G>T (p.Gly4387Cys)
c.13156G>T (p.Gly4386Cys)
c.13153G>T (p.Gly4385Cys)
c.13105G>T (p.Gly4369Cys)
c.12802G>T (p.Gly4268Cys)
c.13336G>T (p.Gly4446Cys)
c.13333G>T (p.Gly4445Cys)
c.13315G>T (p.Gly4439Cys)
c.13291G>T (p.Gly4431Cys)
c.13288G>T (p.Gly4430Cys)
c.13285G>T (p.Gly4429Cys)
c.13237G>T (p.Gly4413Cys)
c.13225G>T (p.Gly4409Cys)
c.13087G>T (p.Gly4363Cys)
c.12934G>T (p.Gly4312Cys)
Xg.53534074C>GCA413144062HUWE1c.12739G>C (p.Gly4247Arg)
c.12955G>C (p.Gly4319Arg)
c.3422G>C
n.268G>C
c.12928G>C (p.Gly4310Arg)
c.13204G>C (p.Gly4402Arg)
c.13201G>C (p.Gly4401Arg)
c.13159G>C (p.Gly4387Arg)
c.13156G>C (p.Gly4386Arg)
c.13153G>C (p.Gly4385Arg)
c.13105G>C (p.Gly4369Arg)
c.12802G>C (p.Gly4268Arg)
c.13336G>C (p.Gly4446Arg)
c.13333G>C (p.Gly4445Arg)
c.13315G>C (p.Gly4439Arg)
c.13291G>C (p.Gly4431Arg)
c.13288G>C (p.Gly4430Arg)
c.13285G>C (p.Gly4429Arg)
c.13237G>C (p.Gly4413Arg)
c.13225G>C (p.Gly4409Arg)
c.13087G>C (p.Gly4363Arg)
c.12934G>C (p.Gly4312Arg)
Xg.53534074C>TCA413144059HUWE1c.12739G>A (p.Gly4247Ser)
c.12955G>A (p.Gly4319Ser)
c.3422G>A
n.268G>A
c.12928G>A (p.Gly4310Ser)
c.13204G>A (p.Gly4402Ser)
c.13201G>A (p.Gly4401Ser)
c.13159G>A (p.Gly4387Ser)
c.13156G>A (p.Gly4386Ser)
c.13153G>A (p.Gly4385Ser)
c.13105G>A (p.Gly4369Ser)
c.12802G>A (p.Gly4268Ser)
c.13336G>A (p.Gly4446Ser)
c.13333G>A (p.Gly4445Ser)
c.13315G>A (p.Gly4439Ser)
c.13291G>A (p.Gly4431Ser)
c.13288G>A (p.Gly4430Ser)
c.13285G>A (p.Gly4429Ser)
c.13237G>A (p.Gly4413Ser)
c.13225G>A (p.Gly4409Ser)
c.13087G>A (p.Gly4363Ser)
c.12934G>A (p.Gly4312Ser)
Xg.53534075A>CCA413144066HUWE1c.12738T>G (p.Asn4246Lys)
c.12954T>G (p.Asn4318Lys)
c.3421T>G
n.267T>G
c.12927T>G (p.Asn4309Lys)
c.13203T>G (p.Asn4401Lys)
c.13200T>G (p.Asn4400Lys)
c.13158T>G (p.Asn4386Lys)
c.13155T>G (p.Asn4385Lys)
c.13152T>G (p.Asn4384Lys)
c.13104T>G (p.Asn4368Lys)
c.12801T>G (p.Asn4267Lys)
c.13335T>G (p.Asn4445Lys)
c.13332T>G (p.Asn4444Lys)
c.13314T>G (p.Asn4438Lys)
c.13290T>G (p.Asn4430Lys)
c.13287T>G (p.Asn4429Lys)
c.13284T>G (p.Asn4428Lys)
c.13236T>G (p.Asn4412Lys)
c.13224T>G (p.Asn4408Lys)
c.13086T>G (p.Asn4362Lys)
c.12933T>G (p.Asn4311Lys)
Xg.53534075A>GCA516418667HUWE1c.12738T>C (p.Asn4246=)
c.12954T>C (p.Asn4318=)
c.3421T>C
n.267T>C
c.12927T>C (p.Asn4309=)
c.13203T>C (p.Asn4401=)
c.13200T>C (p.Asn4400=)
c.13158T>C (p.Asn4386=)
c.13155T>C (p.Asn4385=)
c.13152T>C (p.Asn4384=)
c.13104T>C (p.Asn4368=)
c.12801T>C (p.Asn4267=)
c.13335T>C (p.Asn4445=)
c.13332T>C (p.Asn4444=)
c.13314T>C (p.Asn4438=)
c.13290T>C (p.Asn4430=)
c.13287T>C (p.Asn4429=)
c.13284T>C (p.Asn4428=)
c.13236T>C (p.Asn4412=)
c.13224T>C (p.Asn4408=)
c.13086T>C (p.Asn4362=)
c.12933T>C (p.Asn4311=)
Xg.53534075A>TCA413144068HUWE1c.12738T>A (p.Asn4246Lys)
c.12954T>A (p.Asn4318Lys)
c.3421T>A
n.267T>A
c.12927T>A (p.Asn4309Lys)
c.13203T>A (p.Asn4401Lys)
c.13200T>A (p.Asn4400Lys)
c.13158T>A (p.Asn4386Lys)
c.13155T>A (p.Asn4385Lys)
c.13152T>A (p.Asn4384Lys)
c.13104T>A (p.Asn4368Lys)
c.12801T>A (p.Asn4267Lys)
c.13335T>A (p.Asn4445Lys)
c.13332T>A (p.Asn4444Lys)
c.13314T>A (p.Asn4438Lys)
c.13290T>A (p.Asn4430Lys)
c.13287T>A (p.Asn4429Lys)
c.13284T>A (p.Asn4428Lys)
c.13236T>A (p.Asn4412Lys)
c.13224T>A (p.Asn4408Lys)
c.13086T>A (p.Asn4362Lys)
c.12933T>A (p.Asn4311Lys)
Xg.53534076T>ACA413144079HUWE1c.12737A>T (p.Asn4246Ile)
c.12953A>T (p.Asn4318Ile)
c.3420A>T
n.266A>T
c.12926A>T (p.Asn4309Ile)
c.13202A>T (p.Asn4401Ile)
c.13199A>T (p.Asn4400Ile)
c.13157A>T (p.Asn4386Ile)
c.13154A>T (p.Asn4385Ile)
c.13151A>T (p.Asn4384Ile)
c.13103A>T (p.Asn4368Ile)
c.12800A>T (p.Asn4267Ile)
c.13334A>T (p.Asn4445Ile)
c.13331A>T (p.Asn4444Ile)
c.13313A>T (p.Asn4438Ile)
c.13289A>T (p.Asn4430Ile)
c.13286A>T (p.Asn4429Ile)
c.13283A>T (p.Asn4428Ile)
c.13235A>T (p.Asn4412Ile)
c.13223A>T (p.Asn4408Ile)
c.13085A>T (p.Asn4362Ile)
c.12932A>T (p.Asn4311Ile)
Xg.53534076T>CCA413144087HUWE1c.12737A>G (p.Asn4246Ser)
c.12953A>G (p.Asn4318Ser)
c.3420A>G
n.266A>G
c.12926A>G (p.Asn4309Ser)
c.13202A>G (p.Asn4401Ser)
c.13199A>G (p.Asn4400Ser)
c.13157A>G (p.Asn4386Ser)
c.13154A>G (p.Asn4385Ser)
c.13151A>G (p.Asn4384Ser)
c.13103A>G (p.Asn4368Ser)
c.12800A>G (p.Asn4267Ser)
c.13334A>G (p.Asn4445Ser)
c.13331A>G (p.Asn4444Ser)
c.13313A>G (p.Asn4438Ser)
c.13289A>G (p.Asn4430Ser)
c.13286A>G (p.Asn4429Ser)
c.13283A>G (p.Asn4428Ser)
c.13235A>G (p.Asn4412Ser)
c.13223A>G (p.Asn4408Ser)
c.13085A>G (p.Asn4362Ser)
c.12932A>G (p.Asn4311Ser)
Xg.53534076T>GCA413144082HUWE1c.12737A>C (p.Asn4246Thr)
c.12953A>C (p.Asn4318Thr)
c.3420A>C
n.266A>C
c.12926A>C (p.Asn4309Thr)
c.13202A>C (p.Asn4401Thr)
c.13199A>C (p.Asn4400Thr)
c.13157A>C (p.Asn4386Thr)
c.13154A>C (p.Asn4385Thr)
c.13151A>C (p.Asn4384Thr)
c.13103A>C (p.Asn4368Thr)
c.12800A>C (p.Asn4267Thr)
c.13334A>C (p.Asn4445Thr)
c.13331A>C (p.Asn4444Thr)
c.13313A>C (p.Asn4438Thr)
c.13289A>C (p.Asn4430Thr)
c.13286A>C (p.Asn4429Thr)
c.13283A>C (p.Asn4428Thr)
c.13235A>C (p.Asn4412Thr)
c.13223A>C (p.Asn4408Thr)
c.13085A>C (p.Asn4362Thr)
c.12932A>C (p.Asn4311Thr)
Xg.53534077T>ACA413144095HUWE1c.12736A>T (p.Asn4246Tyr)
c.12952A>T (p.Asn4318Tyr)
c.3419A>T
n.265A>T
c.12925A>T (p.Asn4309Tyr)
c.13201A>T (p.Asn4401Tyr)
c.13198A>T (p.Asn4400Tyr)
c.13156A>T (p.Asn4386Tyr)
c.13153A>T (p.Asn4385Tyr)
c.13150A>T (p.Asn4384Tyr)
c.13102A>T (p.Asn4368Tyr)
c.12799A>T (p.Asn4267Tyr)
c.13333A>T (p.Asn4445Tyr)
c.13330A>T (p.Asn4444Tyr)
c.13312A>T (p.Asn4438Tyr)
c.13288A>T (p.Asn4430Tyr)
c.13285A>T (p.Asn4429Tyr)
c.13282A>T (p.Asn4428Tyr)
c.13234A>T (p.Asn4412Tyr)
c.13222A>T (p.Asn4408Tyr)
c.13084A>T (p.Asn4362Tyr)
c.12931A>T (p.Asn4311Tyr)
Xg.53534077T>CCA413144102HUWE1c.12736A>G (p.Asn4246Asp)
c.12952A>G (p.Asn4318Asp)
c.3419A>G
n.265A>G
c.12925A>G (p.Asn4309Asp)
c.13201A>G (p.Asn4401Asp)
c.13198A>G (p.Asn4400Asp)
c.13156A>G (p.Asn4386Asp)
c.13153A>G (p.Asn4385Asp)
c.13150A>G (p.Asn4384Asp)
c.13102A>G (p.Asn4368Asp)
c.12799A>G (p.Asn4267Asp)
c.13333A>G (p.Asn4445Asp)
c.13330A>G (p.Asn4444Asp)
c.13312A>G (p.Asn4438Asp)
c.13288A>G (p.Asn4430Asp)
c.13285A>G (p.Asn4429Asp)
c.13282A>G (p.Asn4428Asp)
c.13234A>G (p.Asn4412Asp)
c.13222A>G (p.Asn4408Asp)
c.13084A>G (p.Asn4362Asp)
c.12931A>G (p.Asn4311Asp)
Xg.53534077T>GCA413144099HUWE1c.12736A>C (p.Asn4246His)
c.12952A>C (p.Asn4318His)
c.3419A>C
n.265A>C
c.12925A>C (p.Asn4309His)
c.13201A>C (p.Asn4401His)
c.13198A>C (p.Asn4400His)
c.13156A>C (p.Asn4386His)
c.13153A>C (p.Asn4385His)
c.13150A>C (p.Asn4384His)
c.13102A>C (p.Asn4368His)
c.12799A>C (p.Asn4267His)
c.13333A>C (p.Asn4445His)
c.13330A>C (p.Asn4444His)
c.13312A>C (p.Asn4438His)
c.13288A>C (p.Asn4430His)
c.13285A>C (p.Asn4429His)
c.13282A>C (p.Asn4428His)
c.13234A>C (p.Asn4412His)
c.13222A>C (p.Asn4408His)
c.13084A>C (p.Asn4362His)
c.12931A>C (p.Asn4311His)
Xg.53534078C>ACA413144105HUWE1c.12735G>T (p.Met4245Ile)
c.12951G>T (p.Met4317Ile)
c.3418G>T
n.264G>T
c.12924G>T (p.Met4308Ile)
c.13200G>T (p.Met4400Ile)
c.13197G>T (p.Met4399Ile)
c.13155G>T (p.Met4385Ile)
c.13152G>T (p.Met4384Ile)
c.13149G>T (p.Met4383Ile)
c.13101G>T (p.Met4367Ile)
c.12798G>T (p.Met4266Ile)
c.13332G>T (p.Met4444Ile)
c.13329G>T (p.Met4443Ile)
c.13311G>T (p.Met4437Ile)
c.13287G>T (p.Met4429Ile)
c.13284G>T (p.Met4428Ile)
c.13281G>T (p.Met4427Ile)
c.13233G>T (p.Met4411Ile)
c.13221G>T (p.Met4407Ile)
c.13083G>T (p.Met4361Ile)
c.12930G>T (p.Met4310Ile)
Xg.53534078C>GCA413144108HUWE1c.12735G>C (p.Met4245Ile)
c.12951G>C (p.Met4317Ile)
c.3418G>C
n.264G>C
c.12924G>C (p.Met4308Ile)
c.13200G>C (p.Met4400Ile)
c.13197G>C (p.Met4399Ile)
c.13155G>C (p.Met4385Ile)
c.13152G>C (p.Met4384Ile)
c.13149G>C (p.Met4383Ile)
c.13101G>C (p.Met4367Ile)
c.12798G>C (p.Met4266Ile)
c.13332G>C (p.Met4444Ile)
c.13329G>C (p.Met4443Ile)
c.13311G>C (p.Met4437Ile)
c.13287G>C (p.Met4429Ile)
c.13284G>C (p.Met4428Ile)
c.13281G>C (p.Met4427Ile)
c.13233G>C (p.Met4411Ile)
c.13221G>C (p.Met4407Ile)
c.13083G>C (p.Met4361Ile)
c.12930G>C (p.Met4310Ile)
 ClinVar dbSNP
Xg.53534078C>TCA413144110HUWE1c.12735G>A (p.Met4245Ile)
c.12951G>A (p.Met4317Ile)
c.3418G>A
n.264G>A
c.12924G>A (p.Met4308Ile)
c.13200G>A (p.Met4400Ile)
c.13197G>A (p.Met4399Ile)
c.13155G>A (p.Met4385Ile)
c.13152G>A (p.Met4384Ile)
c.13149G>A (p.Met4383Ile)
c.13101G>A (p.Met4367Ile)
c.12798G>A (p.Met4266Ile)
c.13332G>A (p.Met4444Ile)
c.13329G>A (p.Met4443Ile)
c.13311G>A (p.Met4437Ile)
c.13287G>A (p.Met4429Ile)
c.13284G>A (p.Met4428Ile)
c.13281G>A (p.Met4427Ile)
c.13233G>A (p.Met4411Ile)
c.13221G>A (p.Met4407Ile)
c.13083G>A (p.Met4361Ile)
c.12930G>A (p.Met4310Ile)
Xg.53534079A>CCA413144116HUWE1c.12734T>G (p.Met4245Arg)
c.12950T>G (p.Met4317Arg)
c.3417T>G
n.263T>G
c.12923T>G (p.Met4308Arg)
c.13199T>G (p.Met4400Arg)
c.13196T>G (p.Met4399Arg)
c.13154T>G (p.Met4385Arg)
c.13151T>G (p.Met4384Arg)
c.13148T>G (p.Met4383Arg)
c.13100T>G (p.Met4367Arg)
c.12797T>G (p.Met4266Arg)
c.13331T>G (p.Met4444Arg)
c.13328T>G (p.Met4443Arg)
c.13310T>G (p.Met4437Arg)
c.13286T>G (p.Met4429Arg)
c.13283T>G (p.Met4428Arg)
c.13280T>G (p.Met4427Arg)
c.13232T>G (p.Met4411Arg)
c.13220T>G (p.Met4407Arg)
c.13082T>G (p.Met4361Arg)
c.12929T>G (p.Met4310Arg)
Xg.53534079A>GCA413144132HUWE1c.12734T>C (p.Met4245Thr)
c.12950T>C (p.Met4317Thr)
c.3417T>C
n.263T>C
c.12923T>C (p.Met4308Thr)
c.13199T>C (p.Met4400Thr)
c.13196T>C (p.Met4399Thr)
c.13154T>C (p.Met4385Thr)
c.13151T>C (p.Met4384Thr)
c.13148T>C (p.Met4383Thr)
c.13100T>C (p.Met4367Thr)
c.12797T>C (p.Met4266Thr)
c.13331T>C (p.Met4444Thr)
c.13328T>C (p.Met4443Thr)
c.13310T>C (p.Met4437Thr)
c.13286T>C (p.Met4429Thr)
c.13283T>C (p.Met4428Thr)
c.13280T>C (p.Met4427Thr)
c.13232T>C (p.Met4411Thr)
c.13220T>C (p.Met4407Thr)
c.13082T>C (p.Met4361Thr)
c.12929T>C (p.Met4310Thr)
Xg.53534079A>TCA413144134HUWE1c.12734T>A (p.Met4245Lys)
c.12950T>A (p.Met4317Lys)
c.3417T>A
n.263T>A
c.12923T>A (p.Met4308Lys)
c.13199T>A (p.Met4400Lys)
c.13196T>A (p.Met4399Lys)
c.13154T>A (p.Met4385Lys)
c.13151T>A (p.Met4384Lys)
c.13148T>A (p.Met4383Lys)
c.13100T>A (p.Met4367Lys)
c.12797T>A (p.Met4266Lys)
c.13331T>A (p.Met4444Lys)
c.13328T>A (p.Met4443Lys)
c.13310T>A (p.Met4437Lys)
c.13286T>A (p.Met4429Lys)
c.13283T>A (p.Met4428Lys)
c.13280T>A (p.Met4427Lys)
c.13232T>A (p.Met4411Lys)
c.13220T>A (p.Met4407Lys)
c.13082T>A (p.Met4361Lys)
c.12929T>A (p.Met4310Lys)
Xg.53534080T>ACA413144136HUWE1c.12733A>T (p.Met4245Leu)
c.12949A>T (p.Met4317Leu)
c.3416A>T
n.262A>T
c.12922A>T (p.Met4308Leu)
c.13198A>T (p.Met4400Leu)
c.13195A>T (p.Met4399Leu)
c.13153A>T (p.Met4385Leu)
c.13150A>T (p.Met4384Leu)
c.13147A>T (p.Met4383Leu)
c.13099A>T (p.Met4367Leu)
c.12796A>T (p.Met4266Leu)
c.13330A>T (p.Met4444Leu)
c.13327A>T (p.Met4443Leu)
c.13309A>T (p.Met4437Leu)
c.13285A>T (p.Met4429Leu)
c.13282A>T (p.Met4428Leu)
c.13279A>T (p.Met4427Leu)
c.13231A>T (p.Met4411Leu)
c.13219A>T (p.Met4407Leu)
c.13081A>T (p.Met4361Leu)
c.12928A>T (p.Met4310Leu)
Xg.53534080T>CCA413144139HUWE1c.12733A>G (p.Met4245Val)
c.12949A>G (p.Met4317Val)
c.3416A>G
n.262A>G
c.12922A>G (p.Met4308Val)
c.13198A>G (p.Met4400Val)
c.13195A>G (p.Met4399Val)
c.13153A>G (p.Met4385Val)
c.13150A>G (p.Met4384Val)
c.13147A>G (p.Met4383Val)
c.13099A>G (p.Met4367Val)
c.12796A>G (p.Met4266Val)
c.13330A>G (p.Met4444Val)
c.13327A>G (p.Met4443Val)
c.13309A>G (p.Met4437Val)
c.13285A>G (p.Met4429Val)
c.13282A>G (p.Met4428Val)
c.13279A>G (p.Met4427Val)
c.13231A>G (p.Met4411Val)
c.13219A>G (p.Met4407Val)
c.13081A>G (p.Met4361Val)
c.12928A>G (p.Met4310Val)
Xg.53534080T>GCA413144142HUWE1c.12733A>C (p.Met4245Leu)
c.12949A>C (p.Met4317Leu)
c.3416A>C
n.262A>C
c.12922A>C (p.Met4308Leu)
c.13198A>C (p.Met4400Leu)
c.13195A>C (p.Met4399Leu)
c.13153A>C (p.Met4385Leu)
c.13150A>C (p.Met4384Leu)
c.13147A>C (p.Met4383Leu)
c.13099A>C (p.Met4367Leu)
c.12796A>C (p.Met4266Leu)
c.13330A>C (p.Met4444Leu)
c.13327A>C (p.Met4443Leu)
c.13309A>C (p.Met4437Leu)
c.13285A>C (p.Met4429Leu)
c.13282A>C (p.Met4428Leu)
c.13279A>C (p.Met4427Leu)
c.13231A>C (p.Met4411Leu)
c.13219A>C (p.Met4407Leu)
c.13081A>C (p.Met4361Leu)
c.12928A>C (p.Met4310Leu)
Xg.53534081G>ACA516418729HUWE1c.12732C>T (p.Gly4244=)
c.12948C>T (p.Gly4316=)
c.3415C>T
n.261C>T
c.12921C>T (p.Gly4307=)
c.13197C>T (p.Gly4399=)
c.13194C>T (p.Gly4398=)
c.13152C>T (p.Gly4384=)
c.13149C>T (p.Gly4383=)
c.13146C>T (p.Gly4382=)
c.13098C>T (p.Gly4366=)
c.12795C>T (p.Gly4265=)
c.13329C>T (p.Gly4443=)
c.13326C>T (p.Gly4442=)
c.13308C>T (p.Gly4436=)
c.13284C>T (p.Gly4428=)
c.13281C>T (p.Gly4427=)
c.13278C>T (p.Gly4426=)
c.13230C>T (p.Gly4410=)
c.13218C>T (p.Gly4406=)
c.13080C>T (p.Gly4360=)
c.12927C>T (p.Gly4309=)
 ClinVar dbSNP
Xg.53534081G>CCA516418722HUWE1c.12732C>G (p.Gly4244=)
c.12948C>G (p.Gly4316=)
c.3415C>G
n.261C>G
c.12921C>G (p.Gly4307=)
c.13197C>G (p.Gly4399=)
c.13194C>G (p.Gly4398=)
c.13152C>G (p.Gly4384=)
c.13149C>G (p.Gly4383=)
c.13146C>G (p.Gly4382=)
c.13098C>G (p.Gly4366=)
c.12795C>G (p.Gly4265=)
c.13329C>G (p.Gly4443=)
c.13326C>G (p.Gly4442=)
c.13308C>G (p.Gly4436=)
c.13284C>G (p.Gly4428=)
c.13281C>G (p.Gly4427=)
c.13278C>G (p.Gly4426=)
c.13230C>G (p.Gly4410=)
c.13218C>G (p.Gly4406=)
c.13080C>G (p.Gly4360=)
c.12927C>G (p.Gly4309=)
Xg.53534081G>TCA516418726HUWE1c.12732C>A (p.Gly4244=)
c.12948C>A (p.Gly4316=)
c.3415C>A
n.261C>A
c.12921C>A (p.Gly4307=)
c.13197C>A (p.Gly4399=)
c.13194C>A (p.Gly4398=)
c.13152C>A (p.Gly4384=)
c.13149C>A (p.Gly4383=)
c.13146C>A (p.Gly4382=)
c.13098C>A (p.Gly4366=)
c.12795C>A (p.Gly4265=)
c.13329C>A (p.Gly4443=)
c.13326C>A (p.Gly4442=)
c.13308C>A (p.Gly4436=)
c.13284C>A (p.Gly4428=)
c.13281C>A (p.Gly4427=)
c.13278C>A (p.Gly4426=)
c.13230C>A (p.Gly4410=)
c.13218C>A (p.Gly4406=)
c.13080C>A (p.Gly4360=)
c.12927C>A (p.Gly4309=)
Xg.53534082C>ACA413144152HUWE1c.12731G>T (p.Gly4244Val)
c.12947G>T (p.Gly4316Val)
c.3414G>T
n.260G>T
c.12920G>T (p.Gly4307Val)
c.13196G>T (p.Gly4399Val)
c.13193G>T (p.Gly4398Val)
c.13151G>T (p.Gly4384Val)
c.13148G>T (p.Gly4383Val)
c.13145G>T (p.Gly4382Val)
c.13097G>T (p.Gly4366Val)
c.12794G>T (p.Gly4265Val)
c.13328G>T (p.Gly4443Val)
c.13325G>T (p.Gly4442Val)
c.13307G>T (p.Gly4436Val)
c.13283G>T (p.Gly4428Val)
c.13280G>T (p.Gly4427Val)
c.13277G>T (p.Gly4426Val)
c.13229G>T (p.Gly4410Val)
c.13217G>T (p.Gly4406Val)
c.13079G>T (p.Gly4360Val)
c.12926G>T (p.Gly4309Val)
Xg.53534082C=CA2429868902HUWE1c.12731G= (p.Gly4244=)
c.12947G= (p.Gly4316=)
c.3414G=
n.260G=
c.12920G= (p.Gly4307=)
c.13196G= (p.Gly4399=)
c.13193G= (p.Gly4398=)
c.13151G= (p.Gly4384=)
c.13148G= (p.Gly4383=)
c.13145G= (p.Gly4382=)
c.13097G= (p.Gly4366=)
c.12794G= (p.Gly4265=)
c.13328G= (p.Gly4443=)
c.13325G= (p.Gly4442=)
c.13307G= (p.Gly4436=)
c.13283G= (p.Gly4428=)
c.13280G= (p.Gly4427=)
c.13277G= (p.Gly4426=)
c.13229G= (p.Gly4410=)
c.13217G= (p.Gly4406=)
c.13079G= (p.Gly4360=)
c.12926G= (p.Gly4309=)
Xg.53534082C>GCA413144157HUWE1c.12731G>C (p.Gly4244Ala)
c.12947G>C (p.Gly4316Ala)
c.3414G>C
n.260G>C
c.12920G>C (p.Gly4307Ala)
c.13196G>C (p.Gly4399Ala)
c.13193G>C (p.Gly4398Ala)
c.13151G>C (p.Gly4384Ala)
c.13148G>C (p.Gly4383Ala)
c.13145G>C (p.Gly4382Ala)
c.13097G>C (p.Gly4366Ala)
c.12794G>C (p.Gly4265Ala)
c.13328G>C (p.Gly4443Ala)
c.13325G>C (p.Gly4442Ala)
c.13307G>C (p.Gly4436Ala)
c.13283G>C (p.Gly4428Ala)
c.13280G>C (p.Gly4427Ala)
c.13277G>C (p.Gly4426Ala)
c.13229G>C (p.Gly4410Ala)
c.13217G>C (p.Gly4406Ala)
c.13079G>C (p.Gly4360Ala)
c.12926G>C (p.Gly4309Ala)
Xg.53534082C>TCA10421114HUWE1c.12731G>A (p.Gly4244Asp)
c.12947G>A (p.Gly4316Asp)
c.3414G>A
n.260G>A
c.12920G>A (p.Gly4307Asp)
c.13196G>A (p.Gly4399Asp)
c.13193G>A (p.Gly4398Asp)
c.13151G>A (p.Gly4384Asp)
c.13148G>A (p.Gly4383Asp)
c.13145G>A (p.Gly4382Asp)
c.13097G>A (p.Gly4366Asp)
c.12794G>A (p.Gly4265Asp)
c.13328G>A (p.Gly4443Asp)
c.13325G>A (p.Gly4442Asp)
c.13307G>A (p.Gly4436Asp)
c.13283G>A (p.Gly4428Asp)
c.13280G>A (p.Gly4427Asp)
c.13277G>A (p.Gly4426Asp)
c.13229G>A (p.Gly4410Asp)
c.13217G>A (p.Gly4406Asp)
c.13079G>A (p.Gly4360Asp)
c.12926G>A (p.Gly4309Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534083C>ACA413144165HUWE1c.12730G>T (p.Gly4244Cys)
c.12946G>T (p.Gly4316Cys)
c.3413G>T
n.259G>T
c.12919G>T (p.Gly4307Cys)
c.13195G>T (p.Gly4399Cys)
c.13192G>T (p.Gly4398Cys)
c.13150G>T (p.Gly4384Cys)
c.13147G>T (p.Gly4383Cys)
c.13144G>T (p.Gly4382Cys)
c.13096G>T (p.Gly4366Cys)
c.12793G>T (p.Gly4265Cys)
c.13327G>T (p.Gly4443Cys)
c.13324G>T (p.Gly4442Cys)
c.13306G>T (p.Gly4436Cys)
c.13282G>T (p.Gly4428Cys)
c.13279G>T (p.Gly4427Cys)
c.13276G>T (p.Gly4426Cys)
c.13228G>T (p.Gly4410Cys)
c.13216G>T (p.Gly4406Cys)
c.13078G>T (p.Gly4360Cys)
c.12925G>T (p.Gly4309Cys)
Xg.53534083C>GCA413144171HUWE1c.12730G>C (p.Gly4244Arg)
c.12946G>C (p.Gly4316Arg)
c.3413G>C
n.259G>C
c.12919G>C (p.Gly4307Arg)
c.13195G>C (p.Gly4399Arg)
c.13192G>C (p.Gly4398Arg)
c.13150G>C (p.Gly4384Arg)
c.13147G>C (p.Gly4383Arg)
c.13144G>C (p.Gly4382Arg)
c.13096G>C (p.Gly4366Arg)
c.12793G>C (p.Gly4265Arg)
c.13327G>C (p.Gly4443Arg)
c.13324G>C (p.Gly4442Arg)
c.13306G>C (p.Gly4436Arg)
c.13282G>C (p.Gly4428Arg)
c.13279G>C (p.Gly4427Arg)
c.13276G>C (p.Gly4426Arg)
c.13228G>C (p.Gly4410Arg)
c.13216G>C (p.Gly4406Arg)
c.13078G>C (p.Gly4360Arg)
c.12925G>C (p.Gly4309Arg)
 ClinVar gnomAD v4
Xg.53534083C>TCA413144166HUWE1c.12730G>A (p.Gly4244Ser)
c.12946G>A (p.Gly4316Ser)
c.3413G>A
n.259G>A
c.12919G>A (p.Gly4307Ser)
c.13195G>A (p.Gly4399Ser)
c.13192G>A (p.Gly4398Ser)
c.13150G>A (p.Gly4384Ser)
c.13147G>A (p.Gly4383Ser)
c.13144G>A (p.Gly4382Ser)
c.13096G>A (p.Gly4366Ser)
c.12793G>A (p.Gly4265Ser)
c.13327G>A (p.Gly4443Ser)
c.13324G>A (p.Gly4442Ser)
c.13306G>A (p.Gly4436Ser)
c.13282G>A (p.Gly4428Ser)
c.13279G>A (p.Gly4427Ser)
c.13276G>A (p.Gly4426Ser)
c.13228G>A (p.Gly4410Ser)
c.13216G>A (p.Gly4406Ser)
c.13078G>A (p.Gly4360Ser)
c.12925G>A (p.Gly4309Ser)
Xg.53534084T>ACA413144172HUWE1c.12729A>T (p.Glu4243Asp)
c.12945A>T (p.Glu4315Asp)
c.3412A>T
n.258A>T
c.12918A>T (p.Glu4306Asp)
c.13194A>T (p.Glu4398Asp)
c.13191A>T (p.Glu4397Asp)
c.13149A>T (p.Glu4383Asp)
c.13146A>T (p.Glu4382Asp)
c.13143A>T (p.Glu4381Asp)
c.13095A>T (p.Glu4365Asp)
c.12792A>T (p.Glu4264Asp)
c.13326A>T (p.Glu4442Asp)
c.13323A>T (p.Glu4441Asp)
c.13305A>T (p.Glu4435Asp)
c.13281A>T (p.Glu4427Asp)
c.13278A>T (p.Glu4426Asp)
c.13275A>T (p.Glu4425Asp)
c.13227A>T (p.Glu4409Asp)
c.13215A>T (p.Glu4405Asp)
c.13077A>T (p.Glu4359Asp)
c.12924A>T (p.Glu4308Asp)
Xg.53534084T>CCA516418766HUWE1c.12729A>G (p.Glu4243=)
c.12945A>G (p.Glu4315=)
c.3412A>G
n.258A>G
c.12918A>G (p.Glu4306=)
c.13194A>G (p.Glu4398=)
c.13191A>G (p.Glu4397=)
c.13149A>G (p.Glu4383=)
c.13146A>G (p.Glu4382=)
c.13143A>G (p.Glu4381=)
c.13095A>G (p.Glu4365=)
c.12792A>G (p.Glu4264=)
c.13326A>G (p.Glu4442=)
c.13323A>G (p.Glu4441=)
c.13305A>G (p.Glu4435=)
c.13281A>G (p.Glu4427=)
c.13278A>G (p.Glu4426=)
c.13275A>G (p.Glu4425=)
c.13227A>G (p.Glu4409=)
c.13215A>G (p.Glu4405=)
c.13077A>G (p.Glu4359=)
c.12924A>G (p.Glu4308=)
 dbSNP
Xg.53534084T>GCA413144173HUWE1c.12729A>C (p.Glu4243Asp)
c.12945A>C (p.Glu4315Asp)
c.3412A>C
n.258A>C
c.12918A>C (p.Glu4306Asp)
c.13194A>C (p.Glu4398Asp)
c.13191A>C (p.Glu4397Asp)
c.13149A>C (p.Glu4383Asp)
c.13146A>C (p.Glu4382Asp)
c.13143A>C (p.Glu4381Asp)
c.13095A>C (p.Glu4365Asp)
c.12792A>C (p.Glu4264Asp)
c.13326A>C (p.Glu4442Asp)
c.13323A>C (p.Glu4441Asp)
c.13305A>C (p.Glu4435Asp)
c.13281A>C (p.Glu4427Asp)
c.13278A>C (p.Glu4426Asp)
c.13275A>C (p.Glu4425Asp)
c.13227A>C (p.Glu4409Asp)
c.13215A>C (p.Glu4405Asp)
c.13077A>C (p.Glu4359Asp)
c.12924A>C (p.Glu4308Asp)
Xg.53534084T=CA2429868903HUWE1c.12729A= (p.Glu4243=)
c.12945A= (p.Glu4315=)
c.3412A=
n.258A=
c.12918A= (p.Glu4306=)
c.13194A= (p.Glu4398=)
c.13191A= (p.Glu4397=)
c.13149A= (p.Glu4383=)
c.13146A= (p.Glu4382=)
c.13143A= (p.Glu4381=)
c.13095A= (p.Glu4365=)
c.12792A= (p.Glu4264=)
c.13326A= (p.Glu4442=)
c.13323A= (p.Glu4441=)
c.13305A= (p.Glu4435=)
c.13281A= (p.Glu4427=)
c.13278A= (p.Glu4426=)
c.13275A= (p.Glu4425=)
c.13227A= (p.Glu4409=)
c.13215A= (p.Glu4405=)
c.13077A= (p.Glu4359=)
c.12924A= (p.Glu4308=)
Xg.53534085T>ACA413144176HUWE1c.12728A>T (p.Glu4243Val)
c.12944A>T (p.Glu4315Val)
c.3411A>T
n.257A>T
c.12917A>T (p.Glu4306Val)
c.13193A>T (p.Glu4398Val)
c.13190A>T (p.Glu4397Val)
c.13148A>T (p.Glu4383Val)
c.13145A>T (p.Glu4382Val)
c.13142A>T (p.Glu4381Val)
c.13094A>T (p.Glu4365Val)
c.12791A>T (p.Glu4264Val)
c.13325A>T (p.Glu4442Val)
c.13322A>T (p.Glu4441Val)
c.13304A>T (p.Glu4435Val)
c.13280A>T (p.Glu4427Val)
c.13277A>T (p.Glu4426Val)
c.13274A>T (p.Glu4425Val)
c.13226A>T (p.Glu4409Val)
c.13214A>T (p.Glu4405Val)
c.13076A>T (p.Glu4359Val)
c.12923A>T (p.Glu4308Val)
Xg.53534085T>CCA413144178HUWE1c.12728A>G (p.Glu4243Gly)
c.12944A>G (p.Glu4315Gly)
c.3411A>G
n.257A>G
c.12917A>G (p.Glu4306Gly)
c.13193A>G (p.Glu4398Gly)
c.13190A>G (p.Glu4397Gly)
c.13148A>G (p.Glu4383Gly)
c.13145A>G (p.Glu4382Gly)
c.13142A>G (p.Glu4381Gly)
c.13094A>G (p.Glu4365Gly)
c.12791A>G (p.Glu4264Gly)
c.13325A>G (p.Glu4442Gly)
c.13322A>G (p.Glu4441Gly)
c.13304A>G (p.Glu4435Gly)
c.13280A>G (p.Glu4427Gly)
c.13277A>G (p.Glu4426Gly)
c.13274A>G (p.Glu4425Gly)
c.13226A>G (p.Glu4409Gly)
c.13214A>G (p.Glu4405Gly)
c.13076A>G (p.Glu4359Gly)
c.12923A>G (p.Glu4308Gly)
Xg.53534085T>GCA413144180HUWE1c.12728A>C (p.Glu4243Ala)
c.12944A>C (p.Glu4315Ala)
c.3411A>C
n.257A>C
c.12917A>C (p.Glu4306Ala)
c.13193A>C (p.Glu4398Ala)
c.13190A>C (p.Glu4397Ala)
c.13148A>C (p.Glu4383Ala)
c.13145A>C (p.Glu4382Ala)
c.13142A>C (p.Glu4381Ala)
c.13094A>C (p.Glu4365Ala)
c.12791A>C (p.Glu4264Ala)
c.13325A>C (p.Glu4442Ala)
c.13322A>C (p.Glu4441Ala)
c.13304A>C (p.Glu4435Ala)
c.13280A>C (p.Glu4427Ala)
c.13277A>C (p.Glu4426Ala)
c.13274A>C (p.Glu4425Ala)
c.13226A>C (p.Glu4409Ala)
c.13214A>C (p.Glu4405Ala)
c.13076A>C (p.Glu4359Ala)
c.12923A>C (p.Glu4308Ala)
Xg.53534086C>ACA413144182HUWE1c.12727G>T (p.Glu4243Ter)
c.12943G>T (p.Glu4315Ter)
c.3410G>T
n.256G>T
c.12916G>T (p.Glu4306Ter)
c.13192G>T (p.Glu4398Ter)
c.13189G>T (p.Glu4397Ter)
c.13147G>T (p.Glu4383Ter)
c.13144G>T (p.Glu4382Ter)
c.13141G>T (p.Glu4381Ter)
c.13093G>T (p.Glu4365Ter)
c.12790G>T (p.Glu4264Ter)
c.13324G>T (p.Glu4442Ter)
c.13321G>T (p.Glu4441Ter)
c.13303G>T (p.Glu4435Ter)
c.13279G>T (p.Glu4427Ter)
c.13276G>T (p.Glu4426Ter)
c.13273G>T (p.Glu4425Ter)
c.13225G>T (p.Glu4409Ter)
c.13213G>T (p.Glu4405Ter)
c.13075G>T (p.Glu4359Ter)
c.12922G>T (p.Glu4308Ter)
Xg.53534086C=CA2429868904HUWE1c.12727G= (p.Glu4243=)
c.12943G= (p.Glu4315=)
c.3410G=
n.256G=
c.12916G= (p.Glu4306=)
c.13192G= (p.Glu4398=)
c.13189G= (p.Glu4397=)
c.13147G= (p.Glu4383=)
c.13144G= (p.Glu4382=)
c.13141G= (p.Glu4381=)
c.13093G= (p.Glu4365=)
c.12790G= (p.Glu4264=)
c.13324G= (p.Glu4442=)
c.13321G= (p.Glu4441=)
c.13303G= (p.Glu4435=)
c.13279G= (p.Glu4427=)
c.13276G= (p.Glu4426=)
c.13273G= (p.Glu4425=)
c.13225G= (p.Glu4409=)
c.13213G= (p.Glu4405=)
c.13075G= (p.Glu4359=)
c.12922G= (p.Glu4308=)
Xg.53534086C>GCA413144184HUWE1c.12727G>C (p.Glu4243Gln)
c.12943G>C (p.Glu4315Gln)
c.3410G>C
n.256G>C
c.12916G>C (p.Glu4306Gln)
c.13192G>C (p.Glu4398Gln)
c.13189G>C (p.Glu4397Gln)
c.13147G>C (p.Glu4383Gln)
c.13144G>C (p.Glu4382Gln)
c.13141G>C (p.Glu4381Gln)
c.13093G>C (p.Glu4365Gln)
c.12790G>C (p.Glu4264Gln)
c.13324G>C (p.Glu4442Gln)
c.13321G>C (p.Glu4441Gln)
c.13303G>C (p.Glu4435Gln)
c.13279G>C (p.Glu4427Gln)
c.13276G>C (p.Glu4426Gln)
c.13273G>C (p.Glu4425Gln)
c.13225G>C (p.Glu4409Gln)
c.13213G>C (p.Glu4405Gln)
c.13075G>C (p.Glu4359Gln)
c.12922G>C (p.Glu4308Gln)
Xg.53534086C>TCA10421115HUWE1c.12727G>A (p.Glu4243Lys)
c.12943G>A (p.Glu4315Lys)
c.3410G>A
n.256G>A
c.12916G>A (p.Glu4306Lys)
c.13192G>A (p.Glu4398Lys)
c.13189G>A (p.Glu4397Lys)
c.13147G>A (p.Glu4383Lys)
c.13144G>A (p.Glu4382Lys)
c.13141G>A (p.Glu4381Lys)
c.13093G>A (p.Glu4365Lys)
c.12790G>A (p.Glu4264Lys)
c.13324G>A (p.Glu4442Lys)
c.13321G>A (p.Glu4441Lys)
c.13303G>A (p.Glu4435Lys)
c.13279G>A (p.Glu4427Lys)
c.13276G>A (p.Glu4426Lys)
c.13273G>A (p.Glu4425Lys)
c.13225G>A (p.Glu4409Lys)
c.13213G>A (p.Glu4405Lys)
c.13075G>A (p.Glu4359Lys)
c.12922G>A (p.Glu4308Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53534087G>ACA10421116HUWE1c.12726C>T (p.Leu4242=)
c.12942C>T (p.Leu4314=)
c.3409C>T
n.255C>T
c.12915C>T (p.Leu4305=)
c.13191C>T (p.Leu4397=)
c.13188C>T (p.Leu4396=)
c.13146C>T (p.Leu4382=)
c.13143C>T (p.Leu4381=)
c.13140C>T (p.Leu4380=)
c.13092C>T (p.Leu4364=)
c.12789C>T (p.Leu4263=)
c.13323C>T (p.Leu4441=)
c.13320C>T (p.Leu4440=)
c.13302C>T (p.Leu4434=)
c.13278C>T (p.Leu4426=)
c.13275C>T (p.Leu4425=)
c.13272C>T (p.Leu4424=)
c.13224C>T (p.Leu4408=)
c.13212C>T (p.Leu4404=)
c.13074C>T (p.Leu4358=)
c.12921C>T (p.Leu4307=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53534087G>CCA516418783HUWE1c.12726C>G (p.Leu4242=)
c.12942C>G (p.Leu4314=)
c.3409C>G
n.255C>G
c.12915C>G (p.Leu4305=)
c.13191C>G (p.Leu4397=)
c.13188C>G (p.Leu4396=)
c.13146C>G (p.Leu4382=)
c.13143C>G (p.Leu4381=)
c.13140C>G (p.Leu4380=)
c.13092C>G (p.Leu4364=)
c.12789C>G (p.Leu4263=)
c.13323C>G (p.Leu4441=)
c.13320C>G (p.Leu4440=)
c.13302C>G (p.Leu4434=)
c.13278C>G (p.Leu4426=)
c.13275C>G (p.Leu4425=)
c.13272C>G (p.Leu4424=)
c.13224C>G (p.Leu4408=)
c.13212C>G (p.Leu4404=)
c.13074C>G (p.Leu4358=)
c.12921C>G (p.Leu4307=)
 gnomAD v4
Xg.53534087G=CA2429868905HUWE1c.12726C= (p.Leu4242=)
c.12942C= (p.Leu4314=)
c.3409C=
n.255C=
c.12915C= (p.Leu4305=)
c.13191C= (p.Leu4397=)
c.13188C= (p.Leu4396=)
c.13146C= (p.Leu4382=)
c.13143C= (p.Leu4381=)
c.13140C= (p.Leu4380=)
c.13092C= (p.Leu4364=)
c.12789C= (p.Leu4263=)
c.13323C= (p.Leu4441=)
c.13320C= (p.Leu4440=)
c.13302C= (p.Leu4434=)
c.13278C= (p.Leu4426=)
c.13275C= (p.Leu4425=)
c.13272C= (p.Leu4424=)
c.13224C= (p.Leu4408=)
c.13212C= (p.Leu4404=)
c.13074C= (p.Leu4358=)
c.12921C= (p.Leu4307=)
Xg.53534087G>TCA516418786HUWE1c.12726C>A (p.Leu4242=)
c.12942C>A (p.Leu4314=)
c.3409C>A
n.255C>A
c.12915C>A (p.Leu4305=)
c.13191C>A (p.Leu4397=)
c.13188C>A (p.Leu4396=)
c.13146C>A (p.Leu4382=)
c.13143C>A (p.Leu4381=)
c.13140C>A (p.Leu4380=)
c.13092C>A (p.Leu4364=)
c.12789C>A (p.Leu4263=)
c.13323C>A (p.Leu4441=)
c.13320C>A (p.Leu4440=)
c.13302C>A (p.Leu4434=)
c.13278C>A (p.Leu4426=)
c.13275C>A (p.Leu4425=)
c.13272C>A (p.Leu4424=)
c.13224C>A (p.Leu4408=)
c.13212C>A (p.Leu4404=)
c.13074C>A (p.Leu4358=)
c.12921C>A (p.Leu4307=)
Xg.53534088A>CCA413144196HUWE1c.12725T>G (p.Leu4242Arg)
c.12941T>G (p.Leu4314Arg)
c.3408T>G
n.254T>G
c.12914T>G (p.Leu4305Arg)
c.13190T>G (p.Leu4397Arg)
c.13187T>G (p.Leu4396Arg)
c.13145T>G (p.Leu4382Arg)
c.13142T>G (p.Leu4381Arg)
c.13139T>G (p.Leu4380Arg)
c.13091T>G (p.Leu4364Arg)
c.12788T>G (p.Leu4263Arg)
c.13322T>G (p.Leu4441Arg)
c.13319T>G (p.Leu4440Arg)
c.13301T>G (p.Leu4434Arg)
c.13277T>G (p.Leu4426Arg)
c.13274T>G (p.Leu4425Arg)
c.13271T>G (p.Leu4424Arg)
c.13223T>G (p.Leu4408Arg)
c.13211T>G (p.Leu4404Arg)
c.13073T>G (p.Leu4358Arg)
c.12920T>G (p.Leu4307Arg)
Xg.53534088A>GCA413144195HUWE1c.12725T>C (p.Leu4242Pro)
c.12941T>C (p.Leu4314Pro)
c.3408T>C
n.254T>C
c.12914T>C (p.Leu4305Pro)
c.13190T>C (p.Leu4397Pro)
c.13187T>C (p.Leu4396Pro)
c.13145T>C (p.Leu4382Pro)
c.13142T>C (p.Leu4381Pro)
c.13139T>C (p.Leu4380Pro)
c.13091T>C (p.Leu4364Pro)
c.12788T>C (p.Leu4263Pro)
c.13322T>C (p.Leu4441Pro)
c.13319T>C (p.Leu4440Pro)
c.13301T>C (p.Leu4434Pro)
c.13277T>C (p.Leu4426Pro)
c.13274T>C (p.Leu4425Pro)
c.13271T>C (p.Leu4424Pro)
c.13223T>C (p.Leu4408Pro)
c.13211T>C (p.Leu4404Pro)
c.13073T>C (p.Leu4358Pro)
c.12920T>C (p.Leu4307Pro)
Xg.53534088A>TCA413144194HUWE1c.12725T>A (p.Leu4242His)
c.12941T>A (p.Leu4314His)
c.3408T>A
n.254T>A
c.12914T>A (p.Leu4305His)
c.13190T>A (p.Leu4397His)
c.13187T>A (p.Leu4396His)
c.13145T>A (p.Leu4382His)
c.13142T>A (p.Leu4381His)
c.13139T>A (p.Leu4380His)
c.13091T>A (p.Leu4364His)
c.12788T>A (p.Leu4263His)
c.13322T>A (p.Leu4441His)
c.13319T>A (p.Leu4440His)
c.13301T>A (p.Leu4434His)
c.13277T>A (p.Leu4426His)
c.13274T>A (p.Leu4425His)
c.13271T>A (p.Leu4424His)
c.13223T>A (p.Leu4408His)
c.13211T>A (p.Leu4404His)
c.13073T>A (p.Leu4358His)
c.12920T>A (p.Leu4307His)
Xg.53534089G>ACA413144198HUWE1c.12724C>T (p.Leu4242Phe)
c.12940C>T (p.Leu4314Phe)
c.3407C>T
n.253C>T
c.12913C>T (p.Leu4305Phe)
c.13189C>T (p.Leu4397Phe)
c.13186C>T (p.Leu4396Phe)
c.13144C>T (p.Leu4382Phe)
c.13141C>T (p.Leu4381Phe)
c.13138C>T (p.Leu4380Phe)
c.13090C>T (p.Leu4364Phe)
c.12787C>T (p.Leu4263Phe)
c.13321C>T (p.Leu4441Phe)
c.13318C>T (p.Leu4440Phe)
c.13300C>T (p.Leu4434Phe)
c.13276C>T (p.Leu4426Phe)
c.13273C>T (p.Leu4425Phe)
c.13270C>T (p.Leu4424Phe)
c.13222C>T (p.Leu4408Phe)
c.13210C>T (p.Leu4404Phe)
c.13072C>T (p.Leu4358Phe)
c.12919C>T (p.Leu4307Phe)
Xg.53534089G>CCA413144201HUWE1c.12724C>G (p.Leu4242Val)
c.12940C>G (p.Leu4314Val)
c.3407C>G
n.253C>G
c.12913C>G (p.Leu4305Val)
c.13189C>G (p.Leu4397Val)
c.13186C>G (p.Leu4396Val)
c.13144C>G (p.Leu4382Val)
c.13141C>G (p.Leu4381Val)
c.13138C>G (p.Leu4380Val)
c.13090C>G (p.Leu4364Val)
c.12787C>G (p.Leu4263Val)
c.13321C>G (p.Leu4441Val)
c.13318C>G (p.Leu4440Val)
c.13300C>G (p.Leu4434Val)
c.13276C>G (p.Leu4426Val)
c.13273C>G (p.Leu4425Val)
c.13270C>G (p.Leu4424Val)
c.13222C>G (p.Leu4408Val)
c.13210C>G (p.Leu4404Val)
c.13072C>G (p.Leu4358Val)
c.12919C>G (p.Leu4307Val)
Xg.53534089G>TCA413144204HUWE1c.12724C>A (p.Leu4242Ile)
c.12940C>A (p.Leu4314Ile)
c.3407C>A
n.253C>A
c.12913C>A (p.Leu4305Ile)
c.13189C>A (p.Leu4397Ile)
c.13186C>A (p.Leu4396Ile)
c.13144C>A (p.Leu4382Ile)
c.13141C>A (p.Leu4381Ile)
c.13138C>A (p.Leu4380Ile)
c.13090C>A (p.Leu4364Ile)
c.12787C>A (p.Leu4263Ile)
c.13321C>A (p.Leu4441Ile)
c.13318C>A (p.Leu4440Ile)
c.13300C>A (p.Leu4434Ile)
c.13276C>A (p.Leu4426Ile)
c.13273C>A (p.Leu4425Ile)
c.13270C>A (p.Leu4424Ile)
c.13222C>A (p.Leu4408Ile)
c.13210C>A (p.Leu4404Ile)
c.13072C>A (p.Leu4358Ile)
c.12919C>A (p.Leu4307Ile)
Xg.53534091delCA645605900HUWE1c.12724del (p.Leu4242SerfsTer4)
c.12940del (p.Leu4314SerfsTer4)
c.3407del
n.253del
c.12913del (p.Leu4305SerfsTer4)
c.13189del (p.Leu4397SerfsTer4)
c.13186del (p.Leu4396SerfsTer4)
c.13144del (p.Leu4382SerfsTer4)
c.13141del (p.Leu4381SerfsTer4)
c.13138del (p.Leu4380SerfsTer4)
c.13090del (p.Leu4364SerfsTer4)
c.12787del (p.Leu4263SerfsTer4)
c.13321del (p.Leu4441SerfsTer4)
c.13318del (p.Leu4440SerfsTer4)
c.13300del (p.Leu4434SerfsTer4)
c.13276del (p.Leu4426SerfsTer4)
c.13273del (p.Leu4425SerfsTer4)
c.13270del (p.Leu4424SerfsTer4)
c.13222del (p.Leu4408SerfsTer4)
c.13210del (p.Leu4404SerfsTer4)
c.13072del (p.Leu4358SerfsTer4)
c.12919del (p.Leu4307SerfsTer4)
 COSMIC COSMIC
Xg.53534090G>ACA516418799HUWE1c.12723C>T (p.Ala4241=)
c.12939C>T (p.Ala4313=)
c.3406C>T
n.252C>T
c.12912C>T (p.Ala4304=)
c.13188C>T (p.Ala4396=)
c.13185C>T (p.Ala4395=)
c.13143C>T (p.Ala4381=)
c.13140C>T (p.Ala4380=)
c.13137C>T (p.Ala4379=)
c.13089C>T (p.Ala4363=)
c.12786C>T (p.Ala4262=)
c.13320C>T (p.Ala4440=)
c.13317C>T (p.Ala4439=)
c.13299C>T (p.Ala4433=)
c.13275C>T (p.Ala4425=)
c.13272C>T (p.Ala4424=)
c.13269C>T (p.Ala4423=)
c.13221C>T (p.Ala4407=)
c.13209C>T (p.Ala4403=)
c.13071C>T (p.Ala4357=)
c.12918C>T (p.Ala4306=)
Xg.53534090G>CCA516418800HUWE1c.12723C>G (p.Ala4241=)
c.12939C>G (p.Ala4313=)
c.3406C>G
n.252C>G
c.12912C>G (p.Ala4304=)
c.13188C>G (p.Ala4396=)
c.13185C>G (p.Ala4395=)
c.13143C>G (p.Ala4381=)
c.13140C>G (p.Ala4380=)
c.13137C>G (p.Ala4379=)
c.13089C>G (p.Ala4363=)
c.12786C>G (p.Ala4262=)
c.13320C>G (p.Ala4440=)
c.13317C>G (p.Ala4439=)
c.13299C>G (p.Ala4433=)
c.13275C>G (p.Ala4425=)
c.13272C>G (p.Ala4424=)
c.13269C>G (p.Ala4423=)
c.13221C>G (p.Ala4407=)
c.13209C>G (p.Ala4403=)
c.13071C>G (p.Ala4357=)
c.12918C>G (p.Ala4306=)
Xg.53534090G>TCA516418801HUWE1c.12723C>A (p.Ala4241=)
c.12939C>A (p.Ala4313=)
c.3406C>A
n.252C>A
c.12912C>A (p.Ala4304=)
c.13188C>A (p.Ala4396=)
c.13185C>A (p.Ala4395=)
c.13143C>A (p.Ala4381=)
c.13140C>A (p.Ala4380=)
c.13137C>A (p.Ala4379=)
c.13089C>A (p.Ala4363=)
c.12786C>A (p.Ala4262=)
c.13320C>A (p.Ala4440=)
c.13317C>A (p.Ala4439=)
c.13299C>A (p.Ala4433=)
c.13275C>A (p.Ala4425=)
c.13272C>A (p.Ala4424=)
c.13269C>A (p.Ala4423=)
c.13221C>A (p.Ala4407=)
c.13209C>A (p.Ala4403=)
c.13071C>A (p.Ala4357=)
c.12918C>A (p.Ala4306=)
Xg.53534091G>ACA413144206HUWE1c.12722C>T (p.Ala4241Val)
c.12938C>T (p.Ala4313Val)
c.3405C>T
n.251C>T
c.12911C>T (p.Ala4304Val)
c.13187C>T (p.Ala4396Val)
c.13184C>T (p.Ala4395Val)
c.13142C>T (p.Ala4381Val)
c.13139C>T (p.Ala4380Val)
c.13136C>T (p.Ala4379Val)
c.13088C>T (p.Ala4363Val)
c.12785C>T (p.Ala4262Val)
c.13319C>T (p.Ala4440Val)
c.13316C>T (p.Ala4439Val)
c.13298C>T (p.Ala4433Val)
c.13274C>T (p.Ala4425Val)
c.13271C>T (p.Ala4424Val)
c.13268C>T (p.Ala4423Val)
c.13220C>T (p.Ala4407Val)
c.13208C>T (p.Ala4403Val)
c.13070C>T (p.Ala4357Val)
c.12917C>T (p.Ala4306Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534091G>CCA413144209HUWE1c.12722C>G (p.Ala4241Gly)
c.12938C>G (p.Ala4313Gly)
c.3405C>G
n.251C>G
c.12911C>G (p.Ala4304Gly)
c.13187C>G (p.Ala4396Gly)
c.13184C>G (p.Ala4395Gly)
c.13142C>G (p.Ala4381Gly)
c.13139C>G (p.Ala4380Gly)
c.13136C>G (p.Ala4379Gly)
c.13088C>G (p.Ala4363Gly)
c.12785C>G (p.Ala4262Gly)
c.13319C>G (p.Ala4440Gly)
c.13316C>G (p.Ala4439Gly)
c.13298C>G (p.Ala4433Gly)
c.13274C>G (p.Ala4425Gly)
c.13271C>G (p.Ala4424Gly)
c.13268C>G (p.Ala4423Gly)
c.13220C>G (p.Ala4407Gly)
c.13208C>G (p.Ala4403Gly)
c.13070C>G (p.Ala4357Gly)
c.12917C>G (p.Ala4306Gly)
Xg.53534091G=CA2429868906HUWE1c.12722C= (p.Ala4241=)
c.12938C= (p.Ala4313=)
c.3405C=
n.251C=
c.12911C= (p.Ala4304=)
c.13187C= (p.Ala4396=)
c.13184C= (p.Ala4395=)
c.13142C= (p.Ala4381=)
c.13139C= (p.Ala4380=)
c.13136C= (p.Ala4379=)
c.13088C= (p.Ala4363=)
c.12785C= (p.Ala4262=)
c.13319C= (p.Ala4440=)
c.13316C= (p.Ala4439=)
c.13298C= (p.Ala4433=)
c.13274C= (p.Ala4425=)
c.13271C= (p.Ala4424=)
c.13268C= (p.Ala4423=)
c.13220C= (p.Ala4407=)
c.13208C= (p.Ala4403=)
c.13070C= (p.Ala4357=)
c.12917C= (p.Ala4306=)
Xg.53534091G>TCA413144217HUWE1c.12722C>A (p.Ala4241Asp)
c.12938C>A (p.Ala4313Asp)
c.3405C>A
n.251C>A
c.12911C>A (p.Ala4304Asp)
c.13187C>A (p.Ala4396Asp)
c.13184C>A (p.Ala4395Asp)
c.13142C>A (p.Ala4381Asp)
c.13139C>A (p.Ala4380Asp)
c.13136C>A (p.Ala4379Asp)
c.13088C>A (p.Ala4363Asp)
c.12785C>A (p.Ala4262Asp)
c.13319C>A (p.Ala4440Asp)
c.13316C>A (p.Ala4439Asp)
c.13298C>A (p.Ala4433Asp)
c.13274C>A (p.Ala4425Asp)
c.13271C>A (p.Ala4424Asp)
c.13268C>A (p.Ala4423Asp)
c.13220C>A (p.Ala4407Asp)
c.13208C>A (p.Ala4403Asp)
c.13070C>A (p.Ala4357Asp)
c.12917C>A (p.Ala4306Asp)
Xg.53534092C>ACA413144221HUWE1c.12721G>T (p.Ala4241Ser)
c.12937G>T (p.Ala4313Ser)
c.3404G>T
n.250G>T
c.12910G>T (p.Ala4304Ser)
c.13186G>T (p.Ala4396Ser)
c.13183G>T (p.Ala4395Ser)
c.13141G>T (p.Ala4381Ser)
c.13138G>T (p.Ala4380Ser)
c.13135G>T (p.Ala4379Ser)
c.13087G>T (p.Ala4363Ser)
c.12784G>T (p.Ala4262Ser)
c.13318G>T (p.Ala4440Ser)
c.13315G>T (p.Ala4439Ser)
c.13297G>T (p.Ala4433Ser)
c.13273G>T (p.Ala4425Ser)
c.13270G>T (p.Ala4424Ser)
c.13267G>T (p.Ala4423Ser)
c.13219G>T (p.Ala4407Ser)
c.13207G>T (p.Ala4403Ser)
c.13069G>T (p.Ala4357Ser)
c.12916G>T (p.Ala4306Ser)
Xg.53534092C>GCA413144223HUWE1c.12721G>C (p.Ala4241Pro)
c.12937G>C (p.Ala4313Pro)
c.3404G>C
n.250G>C
c.12910G>C (p.Ala4304Pro)
c.13186G>C (p.Ala4396Pro)
c.13183G>C (p.Ala4395Pro)
c.13141G>C (p.Ala4381Pro)
c.13138G>C (p.Ala4380Pro)
c.13135G>C (p.Ala4379Pro)
c.13087G>C (p.Ala4363Pro)
c.12784G>C (p.Ala4262Pro)
c.13318G>C (p.Ala4440Pro)
c.13315G>C (p.Ala4439Pro)
c.13297G>C (p.Ala4433Pro)
c.13273G>C (p.Ala4425Pro)
c.13270G>C (p.Ala4424Pro)
c.13267G>C (p.Ala4423Pro)
c.13219G>C (p.Ala4407Pro)
c.13207G>C (p.Ala4403Pro)
c.13069G>C (p.Ala4357Pro)
c.12916G>C (p.Ala4306Pro)
Xg.53534092C>TCA413144224HUWE1c.12721G>A (p.Ala4241Thr)
c.12937G>A (p.Ala4313Thr)
c.3404G>A
n.250G>A
c.12910G>A (p.Ala4304Thr)
c.13186G>A (p.Ala4396Thr)
c.13183G>A (p.Ala4395Thr)
c.13141G>A (p.Ala4381Thr)
c.13138G>A (p.Ala4380Thr)
c.13135G>A (p.Ala4379Thr)
c.13087G>A (p.Ala4363Thr)
c.12784G>A (p.Ala4262Thr)
c.13318G>A (p.Ala4440Thr)
c.13315G>A (p.Ala4439Thr)
c.13297G>A (p.Ala4433Thr)
c.13273G>A (p.Ala4425Thr)
c.13270G>A (p.Ala4424Thr)
c.13267G>A (p.Ala4423Thr)
c.13219G>A (p.Ala4407Thr)
c.13207G>A (p.Ala4403Thr)
c.13069G>A (p.Ala4357Thr)
c.12916G>A (p.Ala4306Thr)
Xg.53534093A>CCA516418810HUWE1c.12720T>G (p.Ala4240=)
c.12936T>G (p.Ala4312=)
c.3403T>G
n.249T>G
c.12909T>G (p.Ala4303=)
c.13185T>G (p.Ala4395=)
c.13182T>G (p.Ala4394=)
c.13140T>G (p.Ala4380=)
c.13137T>G (p.Ala4379=)
c.13134T>G (p.Ala4378=)
c.13086T>G (p.Ala4362=)
c.12783T>G (p.Ala4261=)
c.13317T>G (p.Ala4439=)
c.13314T>G (p.Ala4438=)
c.13296T>G (p.Ala4432=)
c.13272T>G (p.Ala4424=)
c.13269T>G (p.Ala4423=)
c.13266T>G (p.Ala4422=)
c.13218T>G (p.Ala4406=)
c.13206T>G (p.Ala4402=)
c.13068T>G (p.Ala4356=)
c.12915T>G (p.Ala4305=)
Xg.53534093A>GCA516418811HUWE1c.12720T>C (p.Ala4240=)
c.12936T>C (p.Ala4312=)
c.3403T>C
n.249T>C
c.12909T>C (p.Ala4303=)
c.13185T>C (p.Ala4395=)
c.13182T>C (p.Ala4394=)
c.13140T>C (p.Ala4380=)
c.13137T>C (p.Ala4379=)
c.13134T>C (p.Ala4378=)
c.13086T>C (p.Ala4362=)
c.12783T>C (p.Ala4261=)
c.13317T>C (p.Ala4439=)
c.13314T>C (p.Ala4438=)
c.13296T>C (p.Ala4432=)
c.13272T>C (p.Ala4424=)
c.13269T>C (p.Ala4423=)
c.13266T>C (p.Ala4422=)
c.13218T>C (p.Ala4406=)
c.13206T>C (p.Ala4402=)
c.13068T>C (p.Ala4356=)
c.12915T>C (p.Ala4305=)
Xg.53534093A>TCA516418812HUWE1c.12720T>A (p.Ala4240=)
c.12936T>A (p.Ala4312=)
c.3403T>A
n.249T>A
c.12909T>A (p.Ala4303=)
c.13185T>A (p.Ala4395=)
c.13182T>A (p.Ala4394=)
c.13140T>A (p.Ala4380=)
c.13137T>A (p.Ala4379=)
c.13134T>A (p.Ala4378=)
c.13086T>A (p.Ala4362=)
c.12783T>A (p.Ala4261=)
c.13317T>A (p.Ala4439=)
c.13314T>A (p.Ala4438=)
c.13296T>A (p.Ala4432=)
c.13272T>A (p.Ala4424=)
c.13269T>A (p.Ala4423=)
c.13266T>A (p.Ala4422=)
c.13218T>A (p.Ala4406=)
c.13206T>A (p.Ala4402=)
c.13068T>A (p.Ala4356=)
c.12915T>A (p.Ala4305=)
Xg.53534094G>ACA413144229HUWE1c.12719C>T (p.Ala4240Val)
c.12935C>T (p.Ala4312Val)
c.3402C>T
n.248C>T
c.12908C>T (p.Ala4303Val)
c.13184C>T (p.Ala4395Val)
c.13181C>T (p.Ala4394Val)
c.13139C>T (p.Ala4380Val)
c.13136C>T (p.Ala4379Val)
c.13133C>T (p.Ala4378Val)
c.13085C>T (p.Ala4362Val)
c.12782C>T (p.Ala4261Val)
c.13316C>T (p.Ala4439Val)
c.13313C>T (p.Ala4438Val)
c.13295C>T (p.Ala4432Val)
c.13271C>T (p.Ala4424Val)
c.13268C>T (p.Ala4423Val)
c.13265C>T (p.Ala4422Val)
c.13217C>T (p.Ala4406Val)
c.13205C>T (p.Ala4402Val)
c.13067C>T (p.Ala4356Val)
c.12914C>T (p.Ala4305Val)
 gnomAD v4
Xg.53534094G>CCA413144230HUWE1c.12719C>G (p.Ala4240Gly)
c.12935C>G (p.Ala4312Gly)
c.3402C>G
n.248C>G
c.12908C>G (p.Ala4303Gly)
c.13184C>G (p.Ala4395Gly)
c.13181C>G (p.Ala4394Gly)
c.13139C>G (p.Ala4380Gly)
c.13136C>G (p.Ala4379Gly)
c.13133C>G (p.Ala4378Gly)
c.13085C>G (p.Ala4362Gly)
c.12782C>G (p.Ala4261Gly)
c.13316C>G (p.Ala4439Gly)
c.13313C>G (p.Ala4438Gly)
c.13295C>G (p.Ala4432Gly)
c.13271C>G (p.Ala4424Gly)
c.13268C>G (p.Ala4423Gly)
c.13265C>G (p.Ala4422Gly)
c.13217C>G (p.Ala4406Gly)
c.13205C>G (p.Ala4402Gly)
c.13067C>G (p.Ala4356Gly)
c.12914C>G (p.Ala4305Gly)
Xg.53534094G>TCA413144232HUWE1c.12719C>A (p.Ala4240Asp)
c.12935C>A (p.Ala4312Asp)
c.3402C>A
n.248C>A
c.12908C>A (p.Ala4303Asp)
c.13184C>A (p.Ala4395Asp)
c.13181C>A (p.Ala4394Asp)
c.13139C>A (p.Ala4380Asp)
c.13136C>A (p.Ala4379Asp)
c.13133C>A (p.Ala4378Asp)
c.13085C>A (p.Ala4362Asp)
c.12782C>A (p.Ala4261Asp)
c.13316C>A (p.Ala4439Asp)
c.13313C>A (p.Ala4438Asp)
c.13295C>A (p.Ala4432Asp)
c.13271C>A (p.Ala4424Asp)
c.13268C>A (p.Ala4423Asp)
c.13265C>A (p.Ala4422Asp)
c.13217C>A (p.Ala4406Asp)
c.13205C>A (p.Ala4402Asp)
c.13067C>A (p.Ala4356Asp)
c.12914C>A (p.Ala4305Asp)
Xg.53534095C>ACA413144241HUWE1c.12718G>T (p.Ala4240Ser)
c.12934G>T (p.Ala4312Ser)
c.3401G>T
n.247G>T
c.12907G>T (p.Ala4303Ser)
c.13183G>T (p.Ala4395Ser)
c.13180G>T (p.Ala4394Ser)
c.13138G>T (p.Ala4380Ser)
c.13135G>T (p.Ala4379Ser)
c.13132G>T (p.Ala4378Ser)
c.13084G>T (p.Ala4362Ser)
c.12781G>T (p.Ala4261Ser)
c.13315G>T (p.Ala4439Ser)
c.13312G>T (p.Ala4438Ser)
c.13294G>T (p.Ala4432Ser)
c.13270G>T (p.Ala4424Ser)
c.13267G>T (p.Ala4423Ser)
c.13264G>T (p.Ala4422Ser)
c.13216G>T (p.Ala4406Ser)
c.13204G>T (p.Ala4402Ser)
c.13066G>T (p.Ala4356Ser)
c.12913G>T (p.Ala4305Ser)
Xg.53534095C>GCA413144236HUWE1c.12718G>C (p.Ala4240Pro)
c.12934G>C (p.Ala4312Pro)
c.3401G>C
n.247G>C
c.12907G>C (p.Ala4303Pro)
c.13183G>C (p.Ala4395Pro)
c.13180G>C (p.Ala4394Pro)
c.13138G>C (p.Ala4380Pro)
c.13135G>C (p.Ala4379Pro)
c.13132G>C (p.Ala4378Pro)
c.13084G>C (p.Ala4362Pro)
c.12781G>C (p.Ala4261Pro)
c.13315G>C (p.Ala4439Pro)
c.13312G>C (p.Ala4438Pro)
c.13294G>C (p.Ala4432Pro)
c.13270G>C (p.Ala4424Pro)
c.13267G>C (p.Ala4423Pro)
c.13264G>C (p.Ala4422Pro)
c.13216G>C (p.Ala4406Pro)
c.13204G>C (p.Ala4402Pro)
c.13066G>C (p.Ala4356Pro)
c.12913G>C (p.Ala4305Pro)
Xg.53534095C>TCA413144240HUWE1c.12718G>A (p.Ala4240Thr)
c.12934G>A (p.Ala4312Thr)
c.3401G>A
n.247G>A
c.12907G>A (p.Ala4303Thr)
c.13183G>A (p.Ala4395Thr)
c.13180G>A (p.Ala4394Thr)
c.13138G>A (p.Ala4380Thr)
c.13135G>A (p.Ala4379Thr)
c.13132G>A (p.Ala4378Thr)
c.13084G>A (p.Ala4362Thr)
c.12781G>A (p.Ala4261Thr)
c.13315G>A (p.Ala4439Thr)
c.13312G>A (p.Ala4438Thr)
c.13294G>A (p.Ala4432Thr)
c.13270G>A (p.Ala4424Thr)
c.13267G>A (p.Ala4423Thr)
c.13264G>A (p.Ala4422Thr)
c.13216G>A (p.Ala4406Thr)
c.13204G>A (p.Ala4402Thr)
c.13066G>A (p.Ala4356Thr)
c.12913G>A (p.Ala4305Thr)
 gnomAD v4
Xg.53534096A>CCA413144243HUWE1c.12717T>G (p.Phe4239Leu)
c.12933T>G (p.Phe4311Leu)
c.3400T>G
n.246T>G
c.12906T>G (p.Phe4302Leu)
c.13182T>G (p.Phe4394Leu)
c.13179T>G (p.Phe4393Leu)
c.13137T>G (p.Phe4379Leu)
c.13134T>G (p.Phe4378Leu)
c.13131T>G (p.Phe4377Leu)
c.13083T>G (p.Phe4361Leu)
c.12780T>G (p.Phe4260Leu)
c.13314T>G (p.Phe4438Leu)
c.13311T>G (p.Phe4437Leu)
c.13293T>G (p.Phe4431Leu)
c.13269T>G (p.Phe4423Leu)
c.13266T>G (p.Phe4422Leu)
c.13263T>G (p.Phe4421Leu)
c.13215T>G (p.Phe4405Leu)
c.13203T>G (p.Phe4401Leu)
c.13065T>G (p.Phe4355Leu)
c.12912T>G (p.Phe4304Leu)
Xg.53534096A>GCA516418828HUWE1c.12717T>C (p.Phe4239=)
c.12933T>C (p.Phe4311=)
c.3400T>C
n.246T>C
c.12906T>C (p.Phe4302=)
c.13182T>C (p.Phe4394=)
c.13179T>C (p.Phe4393=)
c.13137T>C (p.Phe4379=)
c.13134T>C (p.Phe4378=)
c.13131T>C (p.Phe4377=)
c.13083T>C (p.Phe4361=)
c.12780T>C (p.Phe4260=)
c.13314T>C (p.Phe4438=)
c.13311T>C (p.Phe4437=)
c.13293T>C (p.Phe4431=)
c.13269T>C (p.Phe4423=)
c.13266T>C (p.Phe4422=)
c.13263T>C (p.Phe4421=)
c.13215T>C (p.Phe4405=)
c.13203T>C (p.Phe4401=)
c.13065T>C (p.Phe4355=)
c.12912T>C (p.Phe4304=)
 gnomAD v4
Xg.53534096A>TCA413144261HUWE1c.12717T>A (p.Phe4239Leu)
c.12933T>A (p.Phe4311Leu)
c.3400T>A
n.246T>A
c.12906T>A (p.Phe4302Leu)
c.13182T>A (p.Phe4394Leu)
c.13179T>A (p.Phe4393Leu)
c.13137T>A (p.Phe4379Leu)
c.13134T>A (p.Phe4378Leu)
c.13131T>A (p.Phe4377Leu)
c.13083T>A (p.Phe4361Leu)
c.12780T>A (p.Phe4260Leu)
c.13314T>A (p.Phe4438Leu)
c.13311T>A (p.Phe4437Leu)
c.13293T>A (p.Phe4431Leu)
c.13269T>A (p.Phe4423Leu)
c.13266T>A (p.Phe4422Leu)
c.13263T>A (p.Phe4421Leu)
c.13215T>A (p.Phe4405Leu)
c.13203T>A (p.Phe4401Leu)
c.13065T>A (p.Phe4355Leu)
c.12912T>A (p.Phe4304Leu)
Xg.53534097A>CCA413144265HUWE1c.12716T>G (p.Phe4239Cys)
c.12932T>G (p.Phe4311Cys)
c.3399T>G
n.245T>G
c.12905T>G (p.Phe4302Cys)
c.13181T>G (p.Phe4394Cys)
c.13178T>G (p.Phe4393Cys)
c.13136T>G (p.Phe4379Cys)
c.13133T>G (p.Phe4378Cys)
c.13130T>G (p.Phe4377Cys)
c.13082T>G (p.Phe4361Cys)
c.12779T>G (p.Phe4260Cys)
c.13313T>G (p.Phe4438Cys)
c.13310T>G (p.Phe4437Cys)
c.13292T>G (p.Phe4431Cys)
c.13268T>G (p.Phe4423Cys)
c.13265T>G (p.Phe4422Cys)
c.13262T>G (p.Phe4421Cys)
c.13214T>G (p.Phe4405Cys)
c.13202T>G (p.Phe4401Cys)
c.13064T>G (p.Phe4355Cys)
c.12911T>G (p.Phe4304Cys)
Xg.53534097A>GCA413144266HUWE1c.12716T>C (p.Phe4239Ser)
c.12932T>C (p.Phe4311Ser)
c.3399T>C
n.245T>C
c.12905T>C (p.Phe4302Ser)
c.13181T>C (p.Phe4394Ser)
c.13178T>C (p.Phe4393Ser)
c.13136T>C (p.Phe4379Ser)
c.13133T>C (p.Phe4378Ser)
c.13130T>C (p.Phe4377Ser)
c.13082T>C (p.Phe4361Ser)
c.12779T>C (p.Phe4260Ser)
c.13313T>C (p.Phe4438Ser)
c.13310T>C (p.Phe4437Ser)
c.13292T>C (p.Phe4431Ser)
c.13268T>C (p.Phe4423Ser)
c.13265T>C (p.Phe4422Ser)
c.13262T>C (p.Phe4421Ser)
c.13214T>C (p.Phe4405Ser)
c.13202T>C (p.Phe4401Ser)
c.13064T>C (p.Phe4355Ser)
c.12911T>C (p.Phe4304Ser)
Xg.53534097A>TCA413144267HUWE1c.12716T>A (p.Phe4239Tyr)
c.12932T>A (p.Phe4311Tyr)
c.3399T>A
n.245T>A
c.12905T>A (p.Phe4302Tyr)
c.13181T>A (p.Phe4394Tyr)
c.13178T>A (p.Phe4393Tyr)
c.13136T>A (p.Phe4379Tyr)
c.13133T>A (p.Phe4378Tyr)
c.13130T>A (p.Phe4377Tyr)
c.13082T>A (p.Phe4361Tyr)
c.12779T>A (p.Phe4260Tyr)
c.13313T>A (p.Phe4438Tyr)
c.13310T>A (p.Phe4437Tyr)
c.13292T>A (p.Phe4431Tyr)
c.13268T>A (p.Phe4423Tyr)
c.13265T>A (p.Phe4422Tyr)
c.13262T>A (p.Phe4421Tyr)
c.13214T>A (p.Phe4405Tyr)
c.13202T>A (p.Phe4401Tyr)
c.13064T>A (p.Phe4355Tyr)
c.12911T>A (p.Phe4304Tyr)
Xg.53534098A>CCA413144271HUWE1c.12715T>G (p.Phe4239Val)
c.12931T>G (p.Phe4311Val)
c.3398T>G
n.244T>G
c.12904T>G (p.Phe4302Val)
c.13180T>G (p.Phe4394Val)
c.13177T>G (p.Phe4393Val)
c.13135T>G (p.Phe4379Val)
c.13132T>G (p.Phe4378Val)
c.13129T>G (p.Phe4377Val)
c.13081T>G (p.Phe4361Val)
c.12778T>G (p.Phe4260Val)
c.13312T>G (p.Phe4438Val)
c.13309T>G (p.Phe4437Val)
c.13291T>G (p.Phe4431Val)
c.13267T>G (p.Phe4423Val)
c.13264T>G (p.Phe4422Val)
c.13261T>G (p.Phe4421Val)
c.13213T>G (p.Phe4405Val)
c.13201T>G (p.Phe4401Val)
c.13063T>G (p.Phe4355Val)
c.12910T>G (p.Phe4304Val)
Xg.53534098A>GCA413144275HUWE1c.12715T>C (p.Phe4239Leu)
c.12931T>C (p.Phe4311Leu)
c.3398T>C
n.244T>C
c.12904T>C (p.Phe4302Leu)
c.13180T>C (p.Phe4394Leu)
c.13177T>C (p.Phe4393Leu)
c.13135T>C (p.Phe4379Leu)
c.13132T>C (p.Phe4378Leu)
c.13129T>C (p.Phe4377Leu)
c.13081T>C (p.Phe4361Leu)
c.12778T>C (p.Phe4260Leu)
c.13312T>C (p.Phe4438Leu)
c.13309T>C (p.Phe4437Leu)
c.13291T>C (p.Phe4431Leu)
c.13267T>C (p.Phe4423Leu)
c.13264T>C (p.Phe4422Leu)
c.13261T>C (p.Phe4421Leu)
c.13213T>C (p.Phe4405Leu)
c.13201T>C (p.Phe4401Leu)
c.13063T>C (p.Phe4355Leu)
c.12910T>C (p.Phe4304Leu)
Xg.53534098A>TCA413144277HUWE1c.12715T>A (p.Phe4239Ile)
c.12931T>A (p.Phe4311Ile)
c.3398T>A
n.244T>A
c.12904T>A (p.Phe4302Ile)
c.13180T>A (p.Phe4394Ile)
c.13177T>A (p.Phe4393Ile)
c.13135T>A (p.Phe4379Ile)
c.13132T>A (p.Phe4378Ile)
c.13129T>A (p.Phe4377Ile)
c.13081T>A (p.Phe4361Ile)
c.12778T>A (p.Phe4260Ile)
c.13312T>A (p.Phe4438Ile)
c.13309T>A (p.Phe4437Ile)
c.13291T>A (p.Phe4431Ile)
c.13267T>A (p.Phe4423Ile)
c.13264T>A (p.Phe4422Ile)
c.13261T>A (p.Phe4421Ile)
c.13213T>A (p.Phe4405Ile)
c.13201T>A (p.Phe4401Ile)
c.13063T>A (p.Phe4355Ile)
c.12910T>A (p.Phe4304Ile)
Xg.53534099G>ACA516418843HUWE1c.12714C>T (p.Gly4238=)
c.12930C>T (p.Gly4310=)
c.3397C>T
n.243C>T
c.12903C>T (p.Gly4301=)
c.13179C>T (p.Gly4393=)
c.13176C>T (p.Gly4392=)
c.13134C>T (p.Gly4378=)
c.13131C>T (p.Gly4377=)
c.13128C>T (p.Gly4376=)
c.13080C>T (p.Gly4360=)
c.12777C>T (p.Gly4259=)
c.13311C>T (p.Gly4437=)
c.13308C>T (p.Gly4436=)
c.13290C>T (p.Gly4430=)
c.13266C>T (p.Gly4422=)
c.13263C>T (p.Gly4421=)
c.13260C>T (p.Gly4420=)
c.13212C>T (p.Gly4404=)
c.13200C>T (p.Gly4400=)
c.13062C>T (p.Gly4354=)
c.12909C>T (p.Gly4303=)
Xg.53534099G>CCA516418856HUWE1c.12714C>G (p.Gly4238=)
c.12930C>G (p.Gly4310=)
c.3397C>G
n.243C>G
c.12903C>G (p.Gly4301=)
c.13179C>G (p.Gly4393=)
c.13176C>G (p.Gly4392=)
c.13134C>G (p.Gly4378=)
c.13131C>G (p.Gly4377=)
c.13128C>G (p.Gly4376=)
c.13080C>G (p.Gly4360=)
c.12777C>G (p.Gly4259=)
c.13311C>G (p.Gly4437=)
c.13308C>G (p.Gly4436=)
c.13290C>G (p.Gly4430=)
c.13266C>G (p.Gly4422=)
c.13263C>G (p.Gly4421=)
c.13260C>G (p.Gly4420=)
c.13212C>G (p.Gly4404=)
c.13200C>G (p.Gly4400=)
c.13062C>G (p.Gly4354=)
c.12909C>G (p.Gly4303=)
Xg.53534099G=CA2429868907HUWE1c.12714C= (p.Gly4238=)
c.12930C= (p.Gly4310=)
c.3397C=
n.243C=
c.12903C= (p.Gly4301=)
c.13179C= (p.Gly4393=)
c.13176C= (p.Gly4392=)
c.13134C= (p.Gly4378=)
c.13131C= (p.Gly4377=)
c.13128C= (p.Gly4376=)
c.13080C= (p.Gly4360=)
c.12777C= (p.Gly4259=)
c.13311C= (p.Gly4437=)
c.13308C= (p.Gly4436=)
c.13290C= (p.Gly4430=)
c.13266C= (p.Gly4422=)
c.13263C= (p.Gly4421=)
c.13260C= (p.Gly4420=)
c.13212C= (p.Gly4404=)
c.13200C= (p.Gly4400=)
c.13062C= (p.Gly4354=)
c.12909C= (p.Gly4303=)
Xg.53534099G>TCA516418849HUWE1c.12714C>A (p.Gly4238=)
c.12930C>A (p.Gly4310=)
c.3397C>A
n.243C>A
c.12903C>A (p.Gly4301=)
c.13179C>A (p.Gly4393=)
c.13176C>A (p.Gly4392=)
c.13134C>A (p.Gly4378=)
c.13131C>A (p.Gly4377=)
c.13128C>A (p.Gly4376=)
c.13080C>A (p.Gly4360=)
c.12777C>A (p.Gly4259=)
c.13311C>A (p.Gly4437=)
c.13308C>A (p.Gly4436=)
c.13290C>A (p.Gly4430=)
c.13266C>A (p.Gly4422=)
c.13263C>A (p.Gly4421=)
c.13260C>A (p.Gly4420=)
c.13212C>A (p.Gly4404=)
c.13200C>A (p.Gly4400=)
c.13062C>A (p.Gly4354=)
c.12909C>A (p.Gly4303=)
 dbSNP gnomAD v4
Xg.53534100C>ACA413144282HUWE1c.12713G>T (p.Gly4238Val)
c.12929G>T (p.Gly4310Val)
c.3396G>T
n.242G>T
c.12902G>T (p.Gly4301Val)
c.13178G>T (p.Gly4393Val)
c.13175G>T (p.Gly4392Val)
c.13133G>T (p.Gly4378Val)
c.13130G>T (p.Gly4377Val)
c.13127G>T (p.Gly4376Val)
c.13079G>T (p.Gly4360Val)
c.12776G>T (p.Gly4259Val)
c.13310G>T (p.Gly4437Val)
c.13307G>T (p.Gly4436Val)
c.13289G>T (p.Gly4430Val)
c.13265G>T (p.Gly4422Val)
c.13262G>T (p.Gly4421Val)
c.13259G>T (p.Gly4420Val)
c.13211G>T (p.Gly4404Val)
c.13199G>T (p.Gly4400Val)
c.13061G>T (p.Gly4354Val)
c.12908G>T (p.Gly4303Val)
Xg.53534100C>GCA413144285HUWE1c.12713G>C (p.Gly4238Ala)
c.12929G>C (p.Gly4310Ala)
c.3396G>C
n.242G>C
c.12902G>C (p.Gly4301Ala)
c.13178G>C (p.Gly4393Ala)
c.13175G>C (p.Gly4392Ala)
c.13133G>C (p.Gly4378Ala)
c.13130G>C (p.Gly4377Ala)
c.13127G>C (p.Gly4376Ala)
c.13079G>C (p.Gly4360Ala)
c.12776G>C (p.Gly4259Ala)
c.13310G>C (p.Gly4437Ala)
c.13307G>C (p.Gly4436Ala)
c.13289G>C (p.Gly4430Ala)
c.13265G>C (p.Gly4422Ala)
c.13262G>C (p.Gly4421Ala)
c.13259G>C (p.Gly4420Ala)
c.13211G>C (p.Gly4404Ala)
c.13199G>C (p.Gly4400Ala)
c.13061G>C (p.Gly4354Ala)
c.12908G>C (p.Gly4303Ala)
Xg.53534100C>TCA413144301HUWE1c.12713G>A (p.Gly4238Asp)
c.12929G>A (p.Gly4310Asp)
c.3396G>A
n.242G>A
c.12902G>A (p.Gly4301Asp)
c.13178G>A (p.Gly4393Asp)
c.13175G>A (p.Gly4392Asp)
c.13133G>A (p.Gly4378Asp)
c.13130G>A (p.Gly4377Asp)
c.13127G>A (p.Gly4376Asp)
c.13079G>A (p.Gly4360Asp)
c.12776G>A (p.Gly4259Asp)
c.13310G>A (p.Gly4437Asp)
c.13307G>A (p.Gly4436Asp)
c.13289G>A (p.Gly4430Asp)
c.13265G>A (p.Gly4422Asp)
c.13262G>A (p.Gly4421Asp)
c.13259G>A (p.Gly4420Asp)
c.13211G>A (p.Gly4404Asp)
c.13199G>A (p.Gly4400Asp)
c.13061G>A (p.Gly4354Asp)
c.12908G>A (p.Gly4303Asp)
 ClinVar dbSNP
Xg.53534101C>ACA413144331HUWE1c.12712G>T (p.Gly4238Cys)
c.12928G>T (p.Gly4310Cys)
c.3395G>T
n.241G>T
c.12901G>T (p.Gly4301Cys)
c.13177G>T (p.Gly4393Cys)
c.13174G>T (p.Gly4392Cys)
c.13132G>T (p.Gly4378Cys)
c.13129G>T (p.Gly4377Cys)
c.13126G>T (p.Gly4376Cys)
c.13078G>T (p.Gly4360Cys)
c.12775G>T (p.Gly4259Cys)
c.13309G>T (p.Gly4437Cys)
c.13306G>T (p.Gly4436Cys)
c.13288G>T (p.Gly4430Cys)
c.13264G>T (p.Gly4422Cys)
c.13261G>T (p.Gly4421Cys)
c.13258G>T (p.Gly4420Cys)
c.13210G>T (p.Gly4404Cys)
c.13198G>T (p.Gly4400Cys)
c.13060G>T (p.Gly4354Cys)
c.12907G>T (p.Gly4303Cys)
Xg.53534101C=CA2429868908HUWE1c.12712G= (p.Gly4238=)
c.12928G= (p.Gly4310=)
c.3395G=
n.241G=
c.12901G= (p.Gly4301=)
c.13177G= (p.Gly4393=)
c.13174G= (p.Gly4392=)
c.13132G= (p.Gly4378=)
c.13129G= (p.Gly4377=)
c.13126G= (p.Gly4376=)
c.13078G= (p.Gly4360=)
c.12775G= (p.Gly4259=)
c.13309G= (p.Gly4437=)
c.13306G= (p.Gly4436=)
c.13288G= (p.Gly4430=)
c.13264G= (p.Gly4422=)
c.13261G= (p.Gly4421=)
c.13258G= (p.Gly4420=)
c.13210G= (p.Gly4404=)
c.13198G= (p.Gly4400=)
c.13060G= (p.Gly4354=)
c.12907G= (p.Gly4303=)
Xg.53534101C>GCA413144336HUWE1c.12712G>C (p.Gly4238Arg)
c.12928G>C (p.Gly4310Arg)
c.3395G>C
n.241G>C
c.12901G>C (p.Gly4301Arg)
c.13177G>C (p.Gly4393Arg)
c.13174G>C (p.Gly4392Arg)
c.13132G>C (p.Gly4378Arg)
c.13129G>C (p.Gly4377Arg)
c.13126G>C (p.Gly4376Arg)
c.13078G>C (p.Gly4360Arg)
c.12775G>C (p.Gly4259Arg)
c.13309G>C (p.Gly4437Arg)
c.13306G>C (p.Gly4436Arg)
c.13288G>C (p.Gly4430Arg)
c.13264G>C (p.Gly4422Arg)
c.13261G>C (p.Gly4421Arg)
c.13258G>C (p.Gly4420Arg)
c.13210G>C (p.Gly4404Arg)
c.13198G>C (p.Gly4400Arg)
c.13060G>C (p.Gly4354Arg)
c.12907G>C (p.Gly4303Arg)
 ClinVar dbSNP
Xg.53534101C>TCA413144328HUWE1c.12712G>A (p.Gly4238Ser)
c.12928G>A (p.Gly4310Ser)
c.3395G>A
n.241G>A
c.12901G>A (p.Gly4301Ser)
c.13177G>A (p.Gly4393Ser)
c.13174G>A (p.Gly4392Ser)
c.13132G>A (p.Gly4378Ser)
c.13129G>A (p.Gly4377Ser)
c.13126G>A (p.Gly4376Ser)
c.13078G>A (p.Gly4360Ser)
c.12775G>A (p.Gly4259Ser)
c.13309G>A (p.Gly4437Ser)
c.13306G>A (p.Gly4436Ser)
c.13288G>A (p.Gly4430Ser)
c.13264G>A (p.Gly4422Ser)
c.13261G>A (p.Gly4421Ser)
c.13258G>A (p.Gly4420Ser)
c.13210G>A (p.Gly4404Ser)
c.13198G>A (p.Gly4400Ser)
c.13060G>A (p.Gly4354Ser)
c.12907G>A (p.Gly4303Ser)
Xg.53534102T>ACA413144349HUWE1c.12711A>T (p.Gln4237His)
c.12927A>T (p.Gln4309His)
c.3394A>T
n.240A>T
c.12900A>T (p.Gln4300His)
c.13176A>T (p.Gln4392His)
c.13173A>T (p.Gln4391His)
c.13131A>T (p.Gln4377His)
c.13128A>T (p.Gln4376His)
c.13125A>T (p.Gln4375His)
c.13077A>T (p.Gln4359His)
c.12774A>T (p.Gln4258His)
c.13308A>T (p.Gln4436His)
c.13305A>T (p.Gln4435His)
c.13287A>T (p.Gln4429His)
c.13263A>T (p.Gln4421His)
c.13260A>T (p.Gln4420His)
c.13257A>T (p.Gln4419His)
c.13209A>T (p.Gln4403His)
c.13197A>T (p.Gln4399His)
c.13059A>T (p.Gln4353His)
c.12906A>T (p.Gln4302His)
Xg.53534102T>CCA516418869HUWE1c.12711A>G (p.Gln4237=)
c.12927A>G (p.Gln4309=)
c.3394A>G
n.240A>G
c.12900A>G (p.Gln4300=)
c.13176A>G (p.Gln4392=)
c.13173A>G (p.Gln4391=)
c.13131A>G (p.Gln4377=)
c.13128A>G (p.Gln4376=)
c.13125A>G (p.Gln4375=)
c.13077A>G (p.Gln4359=)
c.12774A>G (p.Gln4258=)
c.13308A>G (p.Gln4436=)
c.13305A>G (p.Gln4435=)
c.13287A>G (p.Gln4429=)
c.13263A>G (p.Gln4421=)
c.13260A>G (p.Gln4420=)
c.13257A>G (p.Gln4419=)
c.13209A>G (p.Gln4403=)
c.13197A>G (p.Gln4399=)
c.13059A>G (p.Gln4353=)
c.12906A>G (p.Gln4302=)
Xg.53534102T>GCA413144345HUWE1c.12711A>C (p.Gln4237His)
c.12927A>C (p.Gln4309His)
c.3394A>C
n.240A>C
c.12900A>C (p.Gln4300His)
c.13176A>C (p.Gln4392His)
c.13173A>C (p.Gln4391His)
c.13131A>C (p.Gln4377His)
c.13128A>C (p.Gln4376His)
c.13125A>C (p.Gln4375His)
c.13077A>C (p.Gln4359His)
c.12774A>C (p.Gln4258His)
c.13308A>C (p.Gln4436His)
c.13305A>C (p.Gln4435His)
c.13287A>C (p.Gln4429His)
c.13263A>C (p.Gln4421His)
c.13260A>C (p.Gln4420His)
c.13257A>C (p.Gln4419His)
c.13209A>C (p.Gln4403His)
c.13197A>C (p.Gln4399His)
c.13059A>C (p.Gln4353His)
c.12906A>C (p.Gln4302His)
Xg.53534103T>ACA413144355HUWE1c.12710A>T (p.Gln4237Leu)
c.12926A>T (p.Gln4309Leu)
c.3393A>T
n.239A>T
c.12899A>T (p.Gln4300Leu)
c.13175A>T (p.Gln4392Leu)
c.13172A>T (p.Gln4391Leu)
c.13130A>T (p.Gln4377Leu)
c.13127A>T (p.Gln4376Leu)
c.13124A>T (p.Gln4375Leu)
c.13076A>T (p.Gln4359Leu)
c.12773A>T (p.Gln4258Leu)
c.13307A>T (p.Gln4436Leu)
c.13304A>T (p.Gln4435Leu)
c.13286A>T (p.Gln4429Leu)
c.13262A>T (p.Gln4421Leu)
c.13259A>T (p.Gln4420Leu)
c.13256A>T (p.Gln4419Leu)
c.13208A>T (p.Gln4403Leu)
c.13196A>T (p.Gln4399Leu)
c.13058A>T (p.Gln4353Leu)
c.12905A>T (p.Gln4302Leu)
Xg.53534103T>CCA413144363HUWE1c.12710A>G (p.Gln4237Arg)
c.12926A>G (p.Gln4309Arg)
c.3393A>G
n.239A>G
c.12899A>G (p.Gln4300Arg)
c.13175A>G (p.Gln4392Arg)
c.13172A>G (p.Gln4391Arg)
c.13130A>G (p.Gln4377Arg)
c.13127A>G (p.Gln4376Arg)
c.13124A>G (p.Gln4375Arg)
c.13076A>G (p.Gln4359Arg)
c.12773A>G (p.Gln4258Arg)
c.13307A>G (p.Gln4436Arg)
c.13304A>G (p.Gln4435Arg)
c.13286A>G (p.Gln4429Arg)
c.13262A>G (p.Gln4421Arg)
c.13259A>G (p.Gln4420Arg)
c.13256A>G (p.Gln4419Arg)
c.13208A>G (p.Gln4403Arg)
c.13196A>G (p.Gln4399Arg)
c.13058A>G (p.Gln4353Arg)
c.12905A>G (p.Gln4302Arg)
Xg.53534103T>GCA413144383HUWE1c.12710A>C (p.Gln4237Pro)
c.12926A>C (p.Gln4309Pro)
c.3393A>C
n.239A>C
c.12899A>C (p.Gln4300Pro)
c.13175A>C (p.Gln4392Pro)
c.13172A>C (p.Gln4391Pro)
c.13130A>C (p.Gln4377Pro)
c.13127A>C (p.Gln4376Pro)
c.13124A>C (p.Gln4375Pro)
c.13076A>C (p.Gln4359Pro)
c.12773A>C (p.Gln4258Pro)
c.13307A>C (p.Gln4436Pro)
c.13304A>C (p.Gln4435Pro)
c.13286A>C (p.Gln4429Pro)
c.13262A>C (p.Gln4421Pro)
c.13259A>C (p.Gln4420Pro)
c.13256A>C (p.Gln4419Pro)
c.13208A>C (p.Gln4403Pro)
c.13196A>C (p.Gln4399Pro)
c.13058A>C (p.Gln4353Pro)
c.12905A>C (p.Gln4302Pro)
Xg.53534104G>ACA413144390HUWE1c.12709C>T (p.Gln4237Ter)
c.12925C>T (p.Gln4309Ter)
c.3392C>T
n.238C>T
c.12898C>T (p.Gln4300Ter)
c.13174C>T (p.Gln4392Ter)
c.13171C>T (p.Gln4391Ter)
c.13129C>T (p.Gln4377Ter)
c.13126C>T (p.Gln4376Ter)
c.13123C>T (p.Gln4375Ter)
c.13075C>T (p.Gln4359Ter)
c.12772C>T (p.Gln4258Ter)
c.13306C>T (p.Gln4436Ter)
c.13303C>T (p.Gln4435Ter)
c.13285C>T (p.Gln4429Ter)
c.13261C>T (p.Gln4421Ter)
c.13258C>T (p.Gln4420Ter)
c.13255C>T (p.Gln4419Ter)
c.13207C>T (p.Gln4403Ter)
c.13195C>T (p.Gln4399Ter)
c.13057C>T (p.Gln4353Ter)
c.12904C>T (p.Gln4302Ter)
Xg.53534104G>CCA413144396HUWE1c.12709C>G (p.Gln4237Glu)
c.12925C>G (p.Gln4309Glu)
c.3392C>G
n.238C>G
c.12898C>G (p.Gln4300Glu)
c.13174C>G (p.Gln4392Glu)
c.13171C>G (p.Gln4391Glu)
c.13129C>G (p.Gln4377Glu)
c.13126C>G (p.Gln4376Glu)
c.13123C>G (p.Gln4375Glu)
c.13075C>G (p.Gln4359Glu)
c.12772C>G (p.Gln4258Glu)
c.13306C>G (p.Gln4436Glu)
c.13303C>G (p.Gln4435Glu)
c.13285C>G (p.Gln4429Glu)
c.13261C>G (p.Gln4421Glu)
c.13258C>G (p.Gln4420Glu)
c.13255C>G (p.Gln4419Glu)
c.13207C>G (p.Gln4403Glu)
c.13195C>G (p.Gln4399Glu)
c.13057C>G (p.Gln4353Glu)
c.12904C>G (p.Gln4302Glu)
Xg.53534104G>TCA413144399HUWE1c.12709C>A (p.Gln4237Lys)
c.12925C>A (p.Gln4309Lys)
c.3392C>A
n.238C>A
c.12898C>A (p.Gln4300Lys)
c.13174C>A (p.Gln4392Lys)
c.13171C>A (p.Gln4391Lys)
c.13129C>A (p.Gln4377Lys)
c.13126C>A (p.Gln4376Lys)
c.13123C>A (p.Gln4375Lys)
c.13075C>A (p.Gln4359Lys)
c.12772C>A (p.Gln4258Lys)
c.13306C>A (p.Gln4436Lys)
c.13303C>A (p.Gln4435Lys)
c.13285C>A (p.Gln4429Lys)
c.13261C>A (p.Gln4421Lys)
c.13258C>A (p.Gln4420Lys)
c.13255C>A (p.Gln4419Lys)
c.13207C>A (p.Gln4403Lys)
c.13195C>A (p.Gln4399Lys)
c.13057C>A (p.Gln4353Lys)
c.12904C>A (p.Gln4302Lys)
Xg.53534105C>ACA516418877HUWE1c.12708G>T (p.Leu4236=)
c.12924G>T (p.Leu4308=)
c.3391G>T
n.237G>T
c.12897G>T (p.Leu4299=)
c.13173G>T (p.Leu4391=)
c.13170G>T (p.Leu4390=)
c.13128G>T (p.Leu4376=)
c.13125G>T (p.Leu4375=)
c.13122G>T (p.Leu4374=)
c.13074G>T (p.Leu4358=)
c.12771G>T (p.Leu4257=)
c.13305G>T (p.Leu4435=)
c.13302G>T (p.Leu4434=)
c.13284G>T (p.Leu4428=)
c.13260G>T (p.Leu4420=)
c.13257G>T (p.Leu4419=)
c.13254G>T (p.Leu4418=)
c.13206G>T (p.Leu4402=)
c.13194G>T (p.Leu4398=)
c.13056G>T (p.Leu4352=)
c.12903G>T (p.Leu4301=)
Xg.53534105C=CA2429868909HUWE1c.12708G= (p.Leu4236=)
c.12924G= (p.Leu4308=)
c.3391G=
n.237G=
c.12897G= (p.Leu4299=)
c.13173G= (p.Leu4391=)
c.13170G= (p.Leu4390=)
c.13128G= (p.Leu4376=)
c.13125G= (p.Leu4375=)
c.13122G= (p.Leu4374=)
c.13074G= (p.Leu4358=)
c.12771G= (p.Leu4257=)
c.13305G= (p.Leu4435=)
c.13302G= (p.Leu4434=)
c.13284G= (p.Leu4428=)
c.13260G= (p.Leu4420=)
c.13257G= (p.Leu4419=)
c.13254G= (p.Leu4418=)
c.13206G= (p.Leu4402=)
c.13194G= (p.Leu4398=)
c.13056G= (p.Leu4352=)
c.12903G= (p.Leu4301=)
Xg.53534105C>GCA516418878HUWE1c.12708G>C (p.Leu4236=)
c.12924G>C (p.Leu4308=)
c.3391G>C
n.237G>C
c.12897G>C (p.Leu4299=)
c.13173G>C (p.Leu4391=)
c.13170G>C (p.Leu4390=)
c.13128G>C (p.Leu4376=)
c.13125G>C (p.Leu4375=)
c.13122G>C (p.Leu4374=)
c.13074G>C (p.Leu4358=)
c.12771G>C (p.Leu4257=)
c.13305G>C (p.Leu4435=)
c.13302G>C (p.Leu4434=)
c.13284G>C (p.Leu4428=)
c.13260G>C (p.Leu4420=)
c.13257G>C (p.Leu4419=)
c.13254G>C (p.Leu4418=)
c.13206G>C (p.Leu4402=)
c.13194G>C (p.Leu4398=)
c.13056G>C (p.Leu4352=)
c.12903G>C (p.Leu4301=)
Xg.53534105C>TCA516418880HUWE1c.12708G>A (p.Leu4236=)
c.12924G>A (p.Leu4308=)
c.3391G>A
n.237G>A
c.12897G>A (p.Leu4299=)
c.13173G>A (p.Leu4391=)
c.13170G>A (p.Leu4390=)
c.13128G>A (p.Leu4376=)
c.13125G>A (p.Leu4375=)
c.13122G>A (p.Leu4374=)
c.13074G>A (p.Leu4358=)
c.12771G>A (p.Leu4257=)
c.13305G>A (p.Leu4435=)
c.13302G>A (p.Leu4434=)
c.13284G>A (p.Leu4428=)
c.13260G>A (p.Leu4420=)
c.13257G>A (p.Leu4419=)
c.13254G>A (p.Leu4418=)
c.13206G>A (p.Leu4402=)
c.13194G>A (p.Leu4398=)
c.13056G>A (p.Leu4352=)
c.12903G>A (p.Leu4301=)
 dbSNP
Xg.53534106A>CCA413144406HUWE1c.12707T>G (p.Leu4236Arg)
c.12923T>G (p.Leu4308Arg)
c.3390T>G
n.236T>G
c.12896T>G (p.Leu4299Arg)
c.13172T>G (p.Leu4391Arg)
c.13169T>G (p.Leu4390Arg)
c.13127T>G (p.Leu4376Arg)
c.13124T>G (p.Leu4375Arg)
c.13121T>G (p.Leu4374Arg)
c.13073T>G (p.Leu4358Arg)
c.12770T>G (p.Leu4257Arg)
c.13304T>G (p.Leu4435Arg)
c.13301T>G (p.Leu4434Arg)
c.13283T>G (p.Leu4428Arg)
c.13259T>G (p.Leu4420Arg)
c.13256T>G (p.Leu4419Arg)
c.13253T>G (p.Leu4418Arg)
c.13205T>G (p.Leu4402Arg)
c.13193T>G (p.Leu4398Arg)
c.13055T>G (p.Leu4352Arg)
c.12902T>G (p.Leu4301Arg)
Xg.53534106A>GCA413144416HUWE1c.12707T>C (p.Leu4236Pro)
c.12923T>C (p.Leu4308Pro)
c.3390T>C
n.236T>C
c.12896T>C (p.Leu4299Pro)
c.13172T>C (p.Leu4391Pro)
c.13169T>C (p.Leu4390Pro)
c.13127T>C (p.Leu4376Pro)
c.13124T>C (p.Leu4375Pro)
c.13121T>C (p.Leu4374Pro)
c.13073T>C (p.Leu4358Pro)
c.12770T>C (p.Leu4257Pro)
c.13304T>C (p.Leu4435Pro)
c.13301T>C (p.Leu4434Pro)
c.13283T>C (p.Leu4428Pro)
c.13259T>C (p.Leu4420Pro)
c.13256T>C (p.Leu4419Pro)
c.13253T>C (p.Leu4418Pro)
c.13205T>C (p.Leu4402Pro)
c.13193T>C (p.Leu4398Pro)
c.13055T>C (p.Leu4352Pro)
c.12902T>C (p.Leu4301Pro)
Xg.53534106A>TCA413144421HUWE1c.12707T>A (p.Leu4236Gln)
c.12923T>A (p.Leu4308Gln)
c.3390T>A
n.236T>A
c.12896T>A (p.Leu4299Gln)
c.13172T>A (p.Leu4391Gln)
c.13169T>A (p.Leu4390Gln)
c.13127T>A (p.Leu4376Gln)
c.13124T>A (p.Leu4375Gln)
c.13121T>A (p.Leu4374Gln)
c.13073T>A (p.Leu4358Gln)
c.12770T>A (p.Leu4257Gln)
c.13304T>A (p.Leu4435Gln)
c.13301T>A (p.Leu4434Gln)
c.13283T>A (p.Leu4428Gln)
c.13259T>A (p.Leu4420Gln)
c.13256T>A (p.Leu4419Gln)
c.13253T>A (p.Leu4418Gln)
c.13205T>A (p.Leu4402Gln)
c.13193T>A (p.Leu4398Gln)
c.13055T>A (p.Leu4352Gln)
c.12902T>A (p.Leu4301Gln)
Xg.53534107G>ACA516418888HUWE1c.12706C>T (p.Leu4236=)
c.12922C>T (p.Leu4308=)
c.3389C>T
n.235C>T
c.12895C>T (p.Leu4299=)
c.13171C>T (p.Leu4391=)
c.13168C>T (p.Leu4390=)
c.13126C>T (p.Leu4376=)
c.13123C>T (p.Leu4375=)
c.13120C>T (p.Leu4374=)
c.13072C>T (p.Leu4358=)
c.12769C>T (p.Leu4257=)
c.13303C>T (p.Leu4435=)
c.13300C>T (p.Leu4434=)
c.13282C>T (p.Leu4428=)
c.13258C>T (p.Leu4420=)
c.13255C>T (p.Leu4419=)
c.13252C>T (p.Leu4418=)
c.13204C>T (p.Leu4402=)
c.13192C>T (p.Leu4398=)
c.13054C>T (p.Leu4352=)
c.12901C>T (p.Leu4301=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53534107G>CCA413144427HUWE1c.12706C>G (p.Leu4236Val)
c.12922C>G (p.Leu4308Val)
c.3389C>G
n.235C>G
c.12895C>G (p.Leu4299Val)
c.13171C>G (p.Leu4391Val)
c.13168C>G (p.Leu4390Val)
c.13126C>G (p.Leu4376Val)
c.13123C>G (p.Leu4375Val)
c.13120C>G (p.Leu4374Val)
c.13072C>G (p.Leu4358Val)
c.12769C>G (p.Leu4257Val)
c.13303C>G (p.Leu4435Val)
c.13300C>G (p.Leu4434Val)
c.13282C>G (p.Leu4428Val)
c.13258C>G (p.Leu4420Val)
c.13255C>G (p.Leu4419Val)
c.13252C>G (p.Leu4418Val)
c.13204C>G (p.Leu4402Val)
c.13192C>G (p.Leu4398Val)
c.13054C>G (p.Leu4352Val)
c.12901C>G (p.Leu4301Val)
Xg.53534107G=CA2429868910HUWE1c.12706C= (p.Leu4236=)
c.12922C= (p.Leu4308=)
c.3389C=
n.235C=
c.12895C= (p.Leu4299=)
c.13171C= (p.Leu4391=)
c.13168C= (p.Leu4390=)
c.13126C= (p.Leu4376=)
c.13123C= (p.Leu4375=)
c.13120C= (p.Leu4374=)
c.13072C= (p.Leu4358=)
c.12769C= (p.Leu4257=)
c.13303C= (p.Leu4435=)
c.13300C= (p.Leu4434=)
c.13282C= (p.Leu4428=)
c.13258C= (p.Leu4420=)
c.13255C= (p.Leu4419=)
c.13252C= (p.Leu4418=)
c.13204C= (p.Leu4402=)
c.13192C= (p.Leu4398=)
c.13054C= (p.Leu4352=)
c.12901C= (p.Leu4301=)
Xg.53534107G>TCA413144435HUWE1c.12706C>A (p.Leu4236Met)
c.12922C>A (p.Leu4308Met)
c.3389C>A
n.235C>A
c.12895C>A (p.Leu4299Met)
c.13171C>A (p.Leu4391Met)
c.13168C>A (p.Leu4390Met)
c.13126C>A (p.Leu4376Met)
c.13123C>A (p.Leu4375Met)
c.13120C>A (p.Leu4374Met)
c.13072C>A (p.Leu4358Met)
c.12769C>A (p.Leu4257Met)
c.13303C>A (p.Leu4435Met)
c.13300C>A (p.Leu4434Met)
c.13282C>A (p.Leu4428Met)
c.13258C>A (p.Leu4420Met)
c.13255C>A (p.Leu4419Met)
c.13252C>A (p.Leu4418Met)
c.13204C>A (p.Leu4402Met)
c.13192C>A (p.Leu4398Met)
c.13054C>A (p.Leu4352Met)
c.12901C>A (p.Leu4301Met)
Xg.53534108G>ACA10421117HUWE1c.12705C>T (p.Pro4235=)
c.12921C>T (p.Pro4307=)
c.3388C>T
n.234C>T
c.12894C>T (p.Pro4298=)
c.13170C>T (p.Pro4390=)
c.13167C>T (p.Pro4389=)
c.13125C>T (p.Pro4375=)
c.13122C>T (p.Pro4374=)
c.13119C>T (p.Pro4373=)
c.13071C>T (p.Pro4357=)
c.12768C>T (p.Pro4256=)
c.13302C>T (p.Pro4434=)
c.13299C>T (p.Pro4433=)
c.13281C>T (p.Pro4427=)
c.13257C>T (p.Pro4419=)
c.13254C>T (p.Pro4418=)
c.13251C>T (p.Pro4417=)
c.13203C>T (p.Pro4401=)
c.13191C>T (p.Pro4397=)
c.13053C>T (p.Pro4351=)
c.12900C>T (p.Pro4300=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53534108G>CCA516418899HUWE1c.12705C>G (p.Pro4235=)
c.12921C>G (p.Pro4307=)
c.3388C>G
n.234C>G
c.12894C>G (p.Pro4298=)
c.13170C>G (p.Pro4390=)
c.13167C>G (p.Pro4389=)
c.13125C>G (p.Pro4375=)
c.13122C>G (p.Pro4374=)
c.13119C>G (p.Pro4373=)
c.13071C>G (p.Pro4357=)
c.12768C>G (p.Pro4256=)
c.13302C>G (p.Pro4434=)
c.13299C>G (p.Pro4433=)
c.13281C>G (p.Pro4427=)
c.13257C>G (p.Pro4419=)
c.13254C>G (p.Pro4418=)
c.13251C>G (p.Pro4417=)
c.13203C>G (p.Pro4401=)
c.13191C>G (p.Pro4397=)
c.13053C>G (p.Pro4351=)
c.12900C>G (p.Pro4300=)
Xg.53534108G=CA2429868911HUWE1c.12705C= (p.Pro4235=)
c.12921C= (p.Pro4307=)
c.3388C=
n.234C=
c.12894C= (p.Pro4298=)
c.13170C= (p.Pro4390=)
c.13167C= (p.Pro4389=)
c.13125C= (p.Pro4375=)
c.13122C= (p.Pro4374=)
c.13119C= (p.Pro4373=)
c.13071C= (p.Pro4357=)
c.12768C= (p.Pro4256=)
c.13302C= (p.Pro4434=)
c.13299C= (p.Pro4433=)
c.13281C= (p.Pro4427=)
c.13257C= (p.Pro4419=)
c.13254C= (p.Pro4418=)
c.13251C= (p.Pro4417=)
c.13203C= (p.Pro4401=)
c.13191C= (p.Pro4397=)
c.13053C= (p.Pro4351=)
c.12900C= (p.Pro4300=)
Xg.53534108G>TCA516418901HUWE1c.12705C>A (p.Pro4235=)
c.12921C>A (p.Pro4307=)
c.3388C>A
n.234C>A
c.12894C>A (p.Pro4298=)
c.13170C>A (p.Pro4390=)
c.13167C>A (p.Pro4389=)
c.13125C>A (p.Pro4375=)
c.13122C>A (p.Pro4374=)
c.13119C>A (p.Pro4373=)
c.13071C>A (p.Pro4357=)
c.12768C>A (p.Pro4256=)
c.13302C>A (p.Pro4434=)
c.13299C>A (p.Pro4433=)
c.13281C>A (p.Pro4427=)
c.13257C>A (p.Pro4419=)
c.13254C>A (p.Pro4418=)
c.13251C>A (p.Pro4417=)
c.13203C>A (p.Pro4401=)
c.13191C>A (p.Pro4397=)
c.13053C>A (p.Pro4351=)
c.12900C>A (p.Pro4300=)
 dbSNP
Xg.53534109G>ACA413144441HUWE1c.12704C>T (p.Pro4235Leu)
c.12920C>T (p.Pro4307Leu)
c.3387C>T
n.233C>T
c.12893C>T (p.Pro4298Leu)
c.13169C>T (p.Pro4390Leu)
c.13166C>T (p.Pro4389Leu)
c.13124C>T (p.Pro4375Leu)
c.13121C>T (p.Pro4374Leu)
c.13118C>T (p.Pro4373Leu)
c.13070C>T (p.Pro4357Leu)
c.12767C>T (p.Pro4256Leu)
c.13301C>T (p.Pro4434Leu)
c.13298C>T (p.Pro4433Leu)
c.13280C>T (p.Pro4427Leu)
c.13256C>T (p.Pro4419Leu)
c.13253C>T (p.Pro4418Leu)
c.13250C>T (p.Pro4417Leu)
c.13202C>T (p.Pro4401Leu)
c.13190C>T (p.Pro4397Leu)
c.13052C>T (p.Pro4351Leu)
c.12899C>T (p.Pro4300Leu)
Xg.53534109G>CCA413144445HUWE1c.12704C>G (p.Pro4235Arg)
c.12920C>G (p.Pro4307Arg)
c.3387C>G
n.233C>G
c.12893C>G (p.Pro4298Arg)
c.13169C>G (p.Pro4390Arg)
c.13166C>G (p.Pro4389Arg)
c.13124C>G (p.Pro4375Arg)
c.13121C>G (p.Pro4374Arg)
c.13118C>G (p.Pro4373Arg)
c.13070C>G (p.Pro4357Arg)
c.12767C>G (p.Pro4256Arg)
c.13301C>G (p.Pro4434Arg)
c.13298C>G (p.Pro4433Arg)
c.13280C>G (p.Pro4427Arg)
c.13256C>G (p.Pro4419Arg)
c.13253C>G (p.Pro4418Arg)
c.13250C>G (p.Pro4417Arg)
c.13202C>G (p.Pro4401Arg)
c.13190C>G (p.Pro4397Arg)
c.13052C>G (p.Pro4351Arg)
c.12899C>G (p.Pro4300Arg)
Xg.53534109G>TCA413144443HUWE1c.12704C>A (p.Pro4235His)
c.12920C>A (p.Pro4307His)
c.3387C>A
n.233C>A
c.12893C>A (p.Pro4298His)
c.13169C>A (p.Pro4390His)
c.13166C>A (p.Pro4389His)
c.13124C>A (p.Pro4375His)
c.13121C>A (p.Pro4374His)
c.13118C>A (p.Pro4373His)
c.13070C>A (p.Pro4357His)
c.12767C>A (p.Pro4256His)
c.13301C>A (p.Pro4434His)
c.13298C>A (p.Pro4433His)
c.13280C>A (p.Pro4427His)
c.13256C>A (p.Pro4419His)
c.13253C>A (p.Pro4418His)
c.13250C>A (p.Pro4417His)
c.13202C>A (p.Pro4401His)
c.13190C>A (p.Pro4397His)
c.13052C>A (p.Pro4351His)
c.12899C>A (p.Pro4300His)
Xg.53534110G>ACA413144450HUWE1c.12703C>T (p.Pro4235Ser)
c.12919C>T (p.Pro4307Ser)
c.3386C>T
n.232C>T
c.12892C>T (p.Pro4298Ser)
c.13168C>T (p.Pro4390Ser)
c.13165C>T (p.Pro4389Ser)
c.13123C>T (p.Pro4375Ser)
c.13120C>T (p.Pro4374Ser)
c.13117C>T (p.Pro4373Ser)
c.13069C>T (p.Pro4357Ser)
c.12766C>T (p.Pro4256Ser)
c.13300C>T (p.Pro4434Ser)
c.13297C>T (p.Pro4433Ser)
c.13279C>T (p.Pro4427Ser)
c.13255C>T (p.Pro4419Ser)
c.13252C>T (p.Pro4418Ser)
c.13249C>T (p.Pro4417Ser)
c.13201C>T (p.Pro4401Ser)
c.13189C>T (p.Pro4397Ser)
c.13051C>T (p.Pro4351Ser)
c.12898C>T (p.Pro4300Ser)
Xg.53534110G>CCA413144451HUWE1c.12703C>G (p.Pro4235Ala)
c.12919C>G (p.Pro4307Ala)
c.3386C>G
n.232C>G
c.12892C>G (p.Pro4298Ala)
c.13168C>G (p.Pro4390Ala)
c.13165C>G (p.Pro4389Ala)
c.13123C>G (p.Pro4375Ala)
c.13120C>G (p.Pro4374Ala)
c.13117C>G (p.Pro4373Ala)
c.13069C>G (p.Pro4357Ala)
c.12766C>G (p.Pro4256Ala)
c.13300C>G (p.Pro4434Ala)
c.13297C>G (p.Pro4433Ala)
c.13279C>G (p.Pro4427Ala)
c.13255C>G (p.Pro4419Ala)
c.13252C>G (p.Pro4418Ala)
c.13249C>G (p.Pro4417Ala)
c.13201C>G (p.Pro4401Ala)
c.13189C>G (p.Pro4397Ala)
c.13051C>G (p.Pro4351Ala)
c.12898C>G (p.Pro4300Ala)
Xg.53534110G>TCA413144454HUWE1c.12703C>A (p.Pro4235Thr)
c.12919C>A (p.Pro4307Thr)
c.3386C>A
n.232C>A
c.12892C>A (p.Pro4298Thr)
c.13168C>A (p.Pro4390Thr)
c.13165C>A (p.Pro4389Thr)
c.13123C>A (p.Pro4375Thr)
c.13120C>A (p.Pro4374Thr)
c.13117C>A (p.Pro4373Thr)
c.13069C>A (p.Pro4357Thr)
c.12766C>A (p.Pro4256Thr)
c.13300C>A (p.Pro4434Thr)
c.13297C>A (p.Pro4433Thr)
c.13279C>A (p.Pro4427Thr)
c.13255C>A (p.Pro4419Thr)
c.13252C>A (p.Pro4418Thr)
c.13249C>A (p.Pro4417Thr)
c.13201C>A (p.Pro4401Thr)
c.13189C>A (p.Pro4397Thr)
c.13051C>A (p.Pro4351Thr)
c.12898C>A (p.Pro4300Thr)
Xg.53534111T>ACA516418923HUWE1c.12702A>T (p.Val4234=)
c.12918A>T (p.Val4306=)
c.3385A>T
n.231A>T
c.12891A>T (p.Val4297=)
c.13167A>T (p.Val4389=)
c.13164A>T (p.Val4388=)
c.13122A>T (p.Val4374=)
c.13119A>T (p.Val4373=)
c.13116A>T (p.Val4372=)
c.13068A>T (p.Val4356=)
c.12765A>T (p.Val4255=)
c.13299A>T (p.Val4433=)
c.13296A>T (p.Val4432=)
c.13278A>T (p.Val4426=)
c.13254A>T (p.Val4418=)
c.13251A>T (p.Val4417=)
c.13248A>T (p.Val4416=)
c.13200A>T (p.Val4400=)
c.13188A>T (p.Val4396=)
c.13050A>T (p.Val4350=)
c.12897A>T (p.Val4299=)
Xg.53534111T>CCA516418929HUWE1c.12702A>G (p.Val4234=)
c.12918A>G (p.Val4306=)
c.3385A>G
n.231A>G
c.12891A>G (p.Val4297=)
c.13167A>G (p.Val4389=)
c.13164A>G (p.Val4388=)
c.13122A>G (p.Val4374=)
c.13119A>G (p.Val4373=)
c.13116A>G (p.Val4372=)
c.13068A>G (p.Val4356=)
c.12765A>G (p.Val4255=)
c.13299A>G (p.Val4433=)
c.13296A>G (p.Val4432=)
c.13278A>G (p.Val4426=)
c.13254A>G (p.Val4418=)
c.13251A>G (p.Val4417=)
c.13248A>G (p.Val4416=)
c.13200A>G (p.Val4400=)
c.13188A>G (p.Val4396=)
c.13050A>G (p.Val4350=)
c.12897A>G (p.Val4299=)
Xg.53534111T>GCA516418927HUWE1c.12702A>C (p.Val4234=)
c.12918A>C (p.Val4306=)
c.3385A>C
n.231A>C
c.12891A>C (p.Val4297=)
c.13167A>C (p.Val4389=)
c.13164A>C (p.Val4388=)
c.13122A>C (p.Val4374=)
c.13119A>C (p.Val4373=)
c.13116A>C (p.Val4372=)
c.13068A>C (p.Val4356=)
c.12765A>C (p.Val4255=)
c.13299A>C (p.Val4433=)
c.13296A>C (p.Val4432=)
c.13278A>C (p.Val4426=)
c.13254A>C (p.Val4418=)
c.13251A>C (p.Val4417=)
c.13248A>C (p.Val4416=)
c.13200A>C (p.Val4400=)
c.13188A>C (p.Val4396=)
c.13050A>C (p.Val4350=)
c.12897A>C (p.Val4299=)
Xg.53534112A>CCA413144470HUWE1c.12701T>G (p.Val4234Gly)
c.12917T>G (p.Val4306Gly)
c.3384T>G
n.230T>G
c.12890T>G (p.Val4297Gly)
c.13166T>G (p.Val4389Gly)
c.13163T>G (p.Val4388Gly)
c.13121T>G (p.Val4374Gly)
c.13118T>G (p.Val4373Gly)
c.13115T>G (p.Val4372Gly)
c.13067T>G (p.Val4356Gly)
c.12764T>G (p.Val4255Gly)
c.13298T>G (p.Val4433Gly)
c.13295T>G (p.Val4432Gly)
c.13277T>G (p.Val4426Gly)
c.13253T>G (p.Val4418Gly)
c.13250T>G (p.Val4417Gly)
c.13247T>G (p.Val4416Gly)
c.13199T>G (p.Val4400Gly)
c.13187T>G (p.Val4396Gly)
c.13049T>G (p.Val4350Gly)
c.12896T>G (p.Val4299Gly)
Xg.53534112A>GCA413144476HUWE1c.12701T>C (p.Val4234Ala)
c.12917T>C (p.Val4306Ala)
c.3384T>C
n.230T>C
c.12890T>C (p.Val4297Ala)
c.13166T>C (p.Val4389Ala)
c.13163T>C (p.Val4388Ala)
c.13121T>C (p.Val4374Ala)
c.13118T>C (p.Val4373Ala)
c.13115T>C (p.Val4372Ala)
c.13067T>C (p.Val4356Ala)
c.12764T>C (p.Val4255Ala)
c.13298T>C (p.Val4433Ala)
c.13295T>C (p.Val4432Ala)
c.13277T>C (p.Val4426Ala)
c.13253T>C (p.Val4418Ala)
c.13250T>C (p.Val4417Ala)
c.13247T>C (p.Val4416Ala)
c.13199T>C (p.Val4400Ala)
c.13187T>C (p.Val4396Ala)
c.13049T>C (p.Val4350Ala)
c.12896T>C (p.Val4299Ala)
Xg.53534112A>TCA413144486HUWE1c.12701T>A (p.Val4234Glu)
c.12917T>A (p.Val4306Glu)
c.3384T>A
n.230T>A
c.12890T>A (p.Val4297Glu)
c.13166T>A (p.Val4389Glu)
c.13163T>A (p.Val4388Glu)
c.13121T>A (p.Val4374Glu)
c.13118T>A (p.Val4373Glu)
c.13115T>A (p.Val4372Glu)
c.13067T>A (p.Val4356Glu)
c.12764T>A (p.Val4255Glu)
c.13298T>A (p.Val4433Glu)
c.13295T>A (p.Val4432Glu)
c.13277T>A (p.Val4426Glu)
c.13253T>A (p.Val4418Glu)
c.13250T>A (p.Val4417Glu)
c.13247T>A (p.Val4416Glu)
c.13199T>A (p.Val4400Glu)
c.13187T>A (p.Val4396Glu)
c.13049T>A (p.Val4350Glu)
c.12896T>A (p.Val4299Glu)
Xg.53534113C>ACA413144496HUWE1c.12700G>T (p.Val4234Leu)
c.12916G>T (p.Val4306Leu)
c.3383G>T
n.229G>T
c.12889G>T (p.Val4297Leu)
c.13165G>T (p.Val4389Leu)
c.13162G>T (p.Val4388Leu)
c.13120G>T (p.Val4374Leu)
c.13117G>T (p.Val4373Leu)
c.13114G>T (p.Val4372Leu)
c.13066G>T (p.Val4356Leu)
c.12763G>T (p.Val4255Leu)
c.13297G>T (p.Val4433Leu)
c.13294G>T (p.Val4432Leu)
c.13276G>T (p.Val4426Leu)
c.13252G>T (p.Val4418Leu)
c.13249G>T (p.Val4417Leu)
c.13246G>T (p.Val4416Leu)
c.13198G>T (p.Val4400Leu)
c.13186G>T (p.Val4396Leu)
c.13048G>T (p.Val4350Leu)
c.12895G>T (p.Val4299Leu)
Xg.53534113C>GCA413144499HUWE1c.12700G>C (p.Val4234Leu)
c.12916G>C (p.Val4306Leu)
c.3383G>C
n.229G>C
c.12889G>C (p.Val4297Leu)
c.13165G>C (p.Val4389Leu)
c.13162G>C (p.Val4388Leu)
c.13120G>C (p.Val4374Leu)
c.13117G>C (p.Val4373Leu)
c.13114G>C (p.Val4372Leu)
c.13066G>C (p.Val4356Leu)
c.12763G>C (p.Val4255Leu)
c.13297G>C (p.Val4433Leu)
c.13294G>C (p.Val4432Leu)
c.13276G>C (p.Val4426Leu)
c.13252G>C (p.Val4418Leu)
c.13249G>C (p.Val4417Leu)
c.13246G>C (p.Val4416Leu)
c.13198G>C (p.Val4400Leu)
c.13186G>C (p.Val4396Leu)
c.13048G>C (p.Val4350Leu)
c.12895G>C (p.Val4299Leu)
Xg.53534113C>TCA413144503HUWE1c.12700G>A (p.Val4234Ile)
c.12916G>A (p.Val4306Ile)
c.3383G>A
n.229G>A
c.12889G>A (p.Val4297Ile)
c.13165G>A (p.Val4389Ile)
c.13162G>A (p.Val4388Ile)
c.13120G>A (p.Val4374Ile)
c.13117G>A (p.Val4373Ile)
c.13114G>A (p.Val4372Ile)
c.13066G>A (p.Val4356Ile)
c.12763G>A (p.Val4255Ile)
c.13297G>A (p.Val4433Ile)
c.13294G>A (p.Val4432Ile)
c.13276G>A (p.Val4426Ile)
c.13252G>A (p.Val4418Ile)
c.13249G>A (p.Val4417Ile)
c.13246G>A (p.Val4416Ile)
c.13198G>A (p.Val4400Ile)
c.13186G>A (p.Val4396Ile)
c.13048G>A (p.Val4350Ile)
c.12895G>A (p.Val4299Ile)
Xg.53534114delCA2693810241HUWE1c.12700del (p.Val4234TyrfsTer12)
c.12916del (p.Val4306TyrfsTer12)
c.3383del
n.229del
c.12889del (p.Val4297TyrfsTer12)
c.13165del (p.Val4389TyrfsTer12)
c.13162del (p.Val4388TyrfsTer12)
c.13120del (p.Val4374TyrfsTer12)
c.13117del (p.Val4373TyrfsTer12)
c.13114del (p.Val4372TyrfsTer12)
c.13066del (p.Val4356TyrfsTer12)
c.12763del (p.Val4255TyrfsTer12)
c.13297del (p.Val4433TyrfsTer12)
c.13294del (p.Val4432TyrfsTer12)
c.13276del (p.Val4426TyrfsTer12)
c.13252del (p.Val4418TyrfsTer12)
c.13249del (p.Val4417TyrfsTer12)
c.13246del (p.Val4416TyrfsTer12)
c.13198del (p.Val4400TyrfsTer12)
c.13186del (p.Val4396TyrfsTer12)
c.13048del (p.Val4350TyrfsTer12)
c.12895del (p.Val4299TyrfsTer12)
 gnomAD v4
Xg.53534114C>ACA413144512HUWE1c.12699G>T (p.Lys4233Asn)
c.12915G>T (p.Lys4305Asn)
c.3382G>T
n.228G>T
c.12888G>T (p.Lys4296Asn)
c.13164G>T (p.Lys4388Asn)
c.13161G>T (p.Lys4387Asn)
c.13119G>T (p.Lys4373Asn)
c.13116G>T (p.Lys4372Asn)
c.13113G>T (p.Lys4371Asn)
c.13065G>T (p.Lys4355Asn)
c.12762G>T (p.Lys4254Asn)
c.13296G>T (p.Lys4432Asn)
c.13293G>T (p.Lys4431Asn)
c.13275G>T (p.Lys4425Asn)
c.13251G>T (p.Lys4417Asn)
c.13248G>T (p.Lys4416Asn)
c.13245G>T (p.Lys4415Asn)
c.13197G>T (p.Lys4399Asn)
c.13185G>T (p.Lys4395Asn)
c.13047G>T (p.Lys4349Asn)
c.12894G>T (p.Lys4298Asn)
Xg.53534114C>GCA413144518HUWE1c.12699G>C (p.Lys4233Asn)
c.12915G>C (p.Lys4305Asn)
c.3382G>C
n.228G>C
c.12888G>C (p.Lys4296Asn)
c.13164G>C (p.Lys4388Asn)
c.13161G>C (p.Lys4387Asn)
c.13119G>C (p.Lys4373Asn)
c.13116G>C (p.Lys4372Asn)
c.13113G>C (p.Lys4371Asn)
c.13065G>C (p.Lys4355Asn)
c.12762G>C (p.Lys4254Asn)
c.13296G>C (p.Lys4432Asn)
c.13293G>C (p.Lys4431Asn)
c.13275G>C (p.Lys4425Asn)
c.13251G>C (p.Lys4417Asn)
c.13248G>C (p.Lys4416Asn)
c.13245G>C (p.Lys4415Asn)
c.13197G>C (p.Lys4399Asn)
c.13185G>C (p.Lys4395Asn)
c.13047G>C (p.Lys4349Asn)
c.12894G>C (p.Lys4298Asn)
Xg.53534114C>TCA516418938HUWE1c.12699G>A (p.Lys4233=)
c.12915G>A (p.Lys4305=)
c.3382G>A
n.228G>A
c.12888G>A (p.Lys4296=)
c.13164G>A (p.Lys4388=)
c.13161G>A (p.Lys4387=)
c.13119G>A (p.Lys4373=)
c.13116G>A (p.Lys4372=)
c.13113G>A (p.Lys4371=)
c.13065G>A (p.Lys4355=)
c.12762G>A (p.Lys4254=)
c.13296G>A (p.Lys4432=)
c.13293G>A (p.Lys4431=)
c.13275G>A (p.Lys4425=)
c.13251G>A (p.Lys4417=)
c.13248G>A (p.Lys4416=)
c.13245G>A (p.Lys4415=)
c.13197G>A (p.Lys4399=)
c.13185G>A (p.Lys4395=)
c.13047G>A (p.Lys4349=)
c.12894G>A (p.Lys4298=)
Xg.53534115T>ACA413144538HUWE1c.12698A>T (p.Lys4233Met)
c.12914A>T (p.Lys4305Met)
c.3381A>T
n.227A>T
c.12887A>T (p.Lys4296Met)
c.13163A>T (p.Lys4388Met)
c.13160A>T (p.Lys4387Met)
c.13118A>T (p.Lys4373Met)
c.13115A>T (p.Lys4372Met)
c.13112A>T (p.Lys4371Met)
c.13064A>T (p.Lys4355Met)
c.12761A>T (p.Lys4254Met)
c.13295A>T (p.Lys4432Met)
c.13292A>T (p.Lys4431Met)
c.13274A>T (p.Lys4425Met)
c.13250A>T (p.Lys4417Met)
c.13247A>T (p.Lys4416Met)
c.13244A>T (p.Lys4415Met)
c.13196A>T (p.Lys4399Met)
c.13184A>T (p.Lys4395Met)
c.13046A>T (p.Lys4349Met)
c.12893A>T (p.Lys4298Met)
Xg.53534115T>CCA413144541HUWE1c.12698A>G (p.Lys4233Arg)
c.12914A>G (p.Lys4305Arg)
c.3381A>G
n.227A>G
c.12887A>G (p.Lys4296Arg)
c.13163A>G (p.Lys4388Arg)
c.13160A>G (p.Lys4387Arg)
c.13118A>G (p.Lys4373Arg)
c.13115A>G (p.Lys4372Arg)
c.13112A>G (p.Lys4371Arg)
c.13064A>G (p.Lys4355Arg)
c.12761A>G (p.Lys4254Arg)
c.13295A>G (p.Lys4432Arg)
c.13292A>G (p.Lys4431Arg)
c.13274A>G (p.Lys4425Arg)
c.13250A>G (p.Lys4417Arg)
c.13247A>G (p.Lys4416Arg)
c.13244A>G (p.Lys4415Arg)
c.13196A>G (p.Lys4399Arg)
c.13184A>G (p.Lys4395Arg)
c.13046A>G (p.Lys4349Arg)
c.12893A>G (p.Lys4298Arg)
Xg.53534115T>GCA413144524HUWE1c.12698A>C (p.Lys4233Thr)
c.12914A>C (p.Lys4305Thr)
c.3381A>C
n.227A>C
c.12887A>C (p.Lys4296Thr)
c.13163A>C (p.Lys4388Thr)
c.13160A>C (p.Lys4387Thr)
c.13118A>C (p.Lys4373Thr)
c.13115A>C (p.Lys4372Thr)
c.13112A>C (p.Lys4371Thr)
c.13064A>C (p.Lys4355Thr)
c.12761A>C (p.Lys4254Thr)
c.13295A>C (p.Lys4432Thr)
c.13292A>C (p.Lys4431Thr)
c.13274A>C (p.Lys4425Thr)
c.13250A>C (p.Lys4417Thr)
c.13247A>C (p.Lys4416Thr)
c.13244A>C (p.Lys4415Thr)
c.13196A>C (p.Lys4399Thr)
c.13184A>C (p.Lys4395Thr)
c.13046A>C (p.Lys4349Thr)
c.12893A>C (p.Lys4298Thr)
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)

Number of alleles fetched