Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53537556A>CCA413154531HUWE1c.11921T>G (p.Leu3974Trp)
c.12137T>G (p.Leu4046Trp)
c.2604T>G
n.272T>G
c.12110T>G (p.Leu4037Trp)
c.12386T>G (p.Leu4129Trp)
c.12383T>G (p.Leu4128Trp)
c.12341T>G (p.Leu4114Trp)
c.12338T>G (p.Leu4113Trp)
c.12335T>G (p.Leu4112Trp)
c.12287T>G (p.Leu4096Trp)
c.11984T>G (p.Leu3995Trp)
c.12518T>G (p.Leu4173Trp)
c.12515T>G (p.Leu4172Trp)
c.12497T>G (p.Leu4166Trp)
c.12473T>G (p.Leu4158Trp)
c.12470T>G (p.Leu4157Trp)
c.12467T>G (p.Leu4156Trp)
c.12419T>G (p.Leu4140Trp)
c.12407T>G (p.Leu4136Trp)
c.12269T>G (p.Leu4090Trp)
c.12116T>G (p.Leu4039Trp)
Xg.53537556A>GCA413154533HUWE1c.11921T>C (p.Leu3974Ser)
c.12137T>C (p.Leu4046Ser)
c.2604T>C
n.272T>C
c.12110T>C (p.Leu4037Ser)
c.12386T>C (p.Leu4129Ser)
c.12383T>C (p.Leu4128Ser)
c.12341T>C (p.Leu4114Ser)
c.12338T>C (p.Leu4113Ser)
c.12335T>C (p.Leu4112Ser)
c.12287T>C (p.Leu4096Ser)
c.11984T>C (p.Leu3995Ser)
c.12518T>C (p.Leu4173Ser)
c.12515T>C (p.Leu4172Ser)
c.12497T>C (p.Leu4166Ser)
c.12473T>C (p.Leu4158Ser)
c.12470T>C (p.Leu4157Ser)
c.12467T>C (p.Leu4156Ser)
c.12419T>C (p.Leu4140Ser)
c.12407T>C (p.Leu4136Ser)
c.12269T>C (p.Leu4090Ser)
c.12116T>C (p.Leu4039Ser)
Xg.53537556A>TCA413154538HUWE1c.11921T>A (p.Leu3974Ter)
c.12137T>A (p.Leu4046Ter)
c.2604T>A
n.272T>A
c.12110T>A (p.Leu4037Ter)
c.12386T>A (p.Leu4129Ter)
c.12383T>A (p.Leu4128Ter)
c.12341T>A (p.Leu4114Ter)
c.12338T>A (p.Leu4113Ter)
c.12335T>A (p.Leu4112Ter)
c.12287T>A (p.Leu4096Ter)
c.11984T>A (p.Leu3995Ter)
c.12518T>A (p.Leu4173Ter)
c.12515T>A (p.Leu4172Ter)
c.12497T>A (p.Leu4166Ter)
c.12473T>A (p.Leu4158Ter)
c.12470T>A (p.Leu4157Ter)
c.12467T>A (p.Leu4156Ter)
c.12419T>A (p.Leu4140Ter)
c.12407T>A (p.Leu4136Ter)
c.12269T>A (p.Leu4090Ter)
c.12116T>A (p.Leu4039Ter)
Xg.53537557A>CCA413154541HUWE1c.11920T>G (p.Leu3974Val)
c.12136T>G (p.Leu4046Val)
c.2603T>G
n.271T>G
c.12109T>G (p.Leu4037Val)
c.12385T>G (p.Leu4129Val)
c.12382T>G (p.Leu4128Val)
c.12340T>G (p.Leu4114Val)
c.12337T>G (p.Leu4113Val)
c.12334T>G (p.Leu4112Val)
c.12286T>G (p.Leu4096Val)
c.11983T>G (p.Leu3995Val)
c.12517T>G (p.Leu4173Val)
c.12514T>G (p.Leu4172Val)
c.12496T>G (p.Leu4166Val)
c.12472T>G (p.Leu4158Val)
c.12469T>G (p.Leu4157Val)
c.12466T>G (p.Leu4156Val)
c.12418T>G (p.Leu4140Val)
c.12406T>G (p.Leu4136Val)
c.12268T>G (p.Leu4090Val)
c.12115T>G (p.Leu4039Val)
Xg.53537557A>GCA516423519HUWE1c.11920T>C (p.Leu3974=)
c.12136T>C (p.Leu4046=)
c.2603T>C
n.271T>C
c.12109T>C (p.Leu4037=)
c.12385T>C (p.Leu4129=)
c.12382T>C (p.Leu4128=)
c.12340T>C (p.Leu4114=)
c.12337T>C (p.Leu4113=)
c.12334T>C (p.Leu4112=)
c.12286T>C (p.Leu4096=)
c.11983T>C (p.Leu3995=)
c.12517T>C (p.Leu4173=)
c.12514T>C (p.Leu4172=)
c.12496T>C (p.Leu4166=)
c.12472T>C (p.Leu4158=)
c.12469T>C (p.Leu4157=)
c.12466T>C (p.Leu4156=)
c.12418T>C (p.Leu4140=)
c.12406T>C (p.Leu4136=)
c.12268T>C (p.Leu4090=)
c.12115T>C (p.Leu4039=)
Xg.53537557A>TCA413154543HUWE1c.11920T>A (p.Leu3974Met)
c.12136T>A (p.Leu4046Met)
c.2603T>A
n.271T>A
c.12109T>A (p.Leu4037Met)
c.12385T>A (p.Leu4129Met)
c.12382T>A (p.Leu4128Met)
c.12340T>A (p.Leu4114Met)
c.12337T>A (p.Leu4113Met)
c.12334T>A (p.Leu4112Met)
c.12286T>A (p.Leu4096Met)
c.11983T>A (p.Leu3995Met)
c.12517T>A (p.Leu4173Met)
c.12514T>A (p.Leu4172Met)
c.12496T>A (p.Leu4166Met)
c.12472T>A (p.Leu4158Met)
c.12469T>A (p.Leu4157Met)
c.12466T>A (p.Leu4156Met)
c.12418T>A (p.Leu4140Met)
c.12406T>A (p.Leu4136Met)
c.12268T>A (p.Leu4090Met)
c.12115T>A (p.Leu4039Met)
Xg.53537558T>ACA516423525HUWE1c.11919A>T (p.Arg3973=)
c.12135A>T (p.Arg4045=)
c.2602A>T
n.270A>T
c.12108A>T (p.Arg4036=)
c.12384A>T (p.Arg4128=)
c.12381A>T (p.Arg4127=)
c.12339A>T (p.Arg4113=)
c.12336A>T (p.Arg4112=)
c.12333A>T (p.Arg4111=)
c.12285A>T (p.Arg4095=)
c.11982A>T (p.Arg3994=)
c.12516A>T (p.Arg4172=)
c.12513A>T (p.Arg4171=)
c.12495A>T (p.Arg4165=)
c.12471A>T (p.Arg4157=)
c.12468A>T (p.Arg4156=)
c.12465A>T (p.Arg4155=)
c.12417A>T (p.Arg4139=)
c.12405A>T (p.Arg4135=)
c.12267A>T (p.Arg4089=)
c.12114A>T (p.Arg4038=)
Xg.53537558T>CCA516423528HUWE1c.11919A>G (p.Arg3973=)
c.12135A>G (p.Arg4045=)
c.2602A>G
n.270A>G
c.12108A>G (p.Arg4036=)
c.12384A>G (p.Arg4128=)
c.12381A>G (p.Arg4127=)
c.12339A>G (p.Arg4113=)
c.12336A>G (p.Arg4112=)
c.12333A>G (p.Arg4111=)
c.12285A>G (p.Arg4095=)
c.11982A>G (p.Arg3994=)
c.12516A>G (p.Arg4172=)
c.12513A>G (p.Arg4171=)
c.12495A>G (p.Arg4165=)
c.12471A>G (p.Arg4157=)
c.12468A>G (p.Arg4156=)
c.12465A>G (p.Arg4155=)
c.12417A>G (p.Arg4139=)
c.12405A>G (p.Arg4135=)
c.12267A>G (p.Arg4089=)
c.12114A>G (p.Arg4038=)
Xg.53537558T>GCA516423530HUWE1c.11919A>C (p.Arg3973=)
c.12135A>C (p.Arg4045=)
c.2602A>C
n.270A>C
c.12108A>C (p.Arg4036=)
c.12384A>C (p.Arg4128=)
c.12381A>C (p.Arg4127=)
c.12339A>C (p.Arg4113=)
c.12336A>C (p.Arg4112=)
c.12333A>C (p.Arg4111=)
c.12285A>C (p.Arg4095=)
c.11982A>C (p.Arg3994=)
c.12516A>C (p.Arg4172=)
c.12513A>C (p.Arg4171=)
c.12495A>C (p.Arg4165=)
c.12471A>C (p.Arg4157=)
c.12468A>C (p.Arg4156=)
c.12465A>C (p.Arg4155=)
c.12417A>C (p.Arg4139=)
c.12405A>C (p.Arg4135=)
c.12267A>C (p.Arg4089=)
c.12114A>C (p.Arg4038=)
Xg.53537559C>ACA413154548HUWE1c.11918G>T (p.Arg3973Leu)
c.12134G>T (p.Arg4045Leu)
c.2601G>T
n.269G>T
c.12107G>T (p.Arg4036Leu)
c.12383G>T (p.Arg4128Leu)
c.12380G>T (p.Arg4127Leu)
c.12338G>T (p.Arg4113Leu)
c.12335G>T (p.Arg4112Leu)
c.12332G>T (p.Arg4111Leu)
c.12284G>T (p.Arg4095Leu)
c.11981G>T (p.Arg3994Leu)
c.12515G>T (p.Arg4172Leu)
c.12512G>T (p.Arg4171Leu)
c.12494G>T (p.Arg4165Leu)
c.12470G>T (p.Arg4157Leu)
c.12467G>T (p.Arg4156Leu)
c.12464G>T (p.Arg4155Leu)
c.12416G>T (p.Arg4139Leu)
c.12404G>T (p.Arg4135Leu)
c.12266G>T (p.Arg4089Leu)
c.12113G>T (p.Arg4038Leu)
Xg.53537559C>GCA413154550HUWE1c.11918G>C (p.Arg3973Pro)
c.12134G>C (p.Arg4045Pro)
c.2601G>C
n.269G>C
c.12107G>C (p.Arg4036Pro)
c.12383G>C (p.Arg4128Pro)
c.12380G>C (p.Arg4127Pro)
c.12338G>C (p.Arg4113Pro)
c.12335G>C (p.Arg4112Pro)
c.12332G>C (p.Arg4111Pro)
c.12284G>C (p.Arg4095Pro)
c.11981G>C (p.Arg3994Pro)
c.12515G>C (p.Arg4172Pro)
c.12512G>C (p.Arg4171Pro)
c.12494G>C (p.Arg4165Pro)
c.12470G>C (p.Arg4157Pro)
c.12467G>C (p.Arg4156Pro)
c.12464G>C (p.Arg4155Pro)
c.12416G>C (p.Arg4139Pro)
c.12404G>C (p.Arg4135Pro)
c.12266G>C (p.Arg4089Pro)
c.12113G>C (p.Arg4038Pro)
Xg.53537559C>TCA413154553HUWE1c.11918G>A (p.Arg3973Gln)
c.12134G>A (p.Arg4045Gln)
c.2601G>A
n.269G>A
c.12107G>A (p.Arg4036Gln)
c.12383G>A (p.Arg4128Gln)
c.12380G>A (p.Arg4127Gln)
c.12338G>A (p.Arg4113Gln)
c.12335G>A (p.Arg4112Gln)
c.12332G>A (p.Arg4111Gln)
c.12284G>A (p.Arg4095Gln)
c.11981G>A (p.Arg3994Gln)
c.12515G>A (p.Arg4172Gln)
c.12512G>A (p.Arg4171Gln)
c.12494G>A (p.Arg4165Gln)
c.12470G>A (p.Arg4157Gln)
c.12467G>A (p.Arg4156Gln)
c.12464G>A (p.Arg4155Gln)
c.12416G>A (p.Arg4139Gln)
c.12404G>A (p.Arg4135Gln)
c.12266G>A (p.Arg4089Gln)
c.12113G>A (p.Arg4038Gln)
 gnomAD v4 COSMIC COSMIC
Xg.53537560G>ACA413154561HUWE1c.11917C>T (p.Arg3973Ter)
c.12133C>T (p.Arg4045Ter)
c.2600C>T
n.268C>T
c.12106C>T (p.Arg4036Ter)
c.12382C>T (p.Arg4128Ter)
c.12379C>T (p.Arg4127Ter)
c.12337C>T (p.Arg4113Ter)
c.12334C>T (p.Arg4112Ter)
c.12331C>T (p.Arg4111Ter)
c.12283C>T (p.Arg4095Ter)
c.11980C>T (p.Arg3994Ter)
c.12514C>T (p.Arg4172Ter)
c.12511C>T (p.Arg4171Ter)
c.12493C>T (p.Arg4165Ter)
c.12469C>T (p.Arg4157Ter)
c.12466C>T (p.Arg4156Ter)
c.12463C>T (p.Arg4155Ter)
c.12415C>T (p.Arg4139Ter)
c.12403C>T (p.Arg4135Ter)
c.12265C>T (p.Arg4089Ter)
c.12112C>T (p.Arg4038Ter)
Xg.53537560G>CCA413154570HUWE1c.11917C>G (p.Arg3973Gly)
c.12133C>G (p.Arg4045Gly)
c.2600C>G
n.268C>G
c.12106C>G (p.Arg4036Gly)
c.12382C>G (p.Arg4128Gly)
c.12379C>G (p.Arg4127Gly)
c.12337C>G (p.Arg4113Gly)
c.12334C>G (p.Arg4112Gly)
c.12331C>G (p.Arg4111Gly)
c.12283C>G (p.Arg4095Gly)
c.11980C>G (p.Arg3994Gly)
c.12514C>G (p.Arg4172Gly)
c.12511C>G (p.Arg4171Gly)
c.12493C>G (p.Arg4165Gly)
c.12469C>G (p.Arg4157Gly)
c.12466C>G (p.Arg4156Gly)
c.12463C>G (p.Arg4155Gly)
c.12415C>G (p.Arg4139Gly)
c.12403C>G (p.Arg4135Gly)
c.12265C>G (p.Arg4089Gly)
c.12112C>G (p.Arg4038Gly)
Xg.53537560G>TCA516423533HUWE1c.11917C>A (p.Arg3973=)
c.12133C>A (p.Arg4045=)
c.2600C>A
n.268C>A
c.12106C>A (p.Arg4036=)
c.12382C>A (p.Arg4128=)
c.12379C>A (p.Arg4127=)
c.12337C>A (p.Arg4113=)
c.12334C>A (p.Arg4112=)
c.12331C>A (p.Arg4111=)
c.12283C>A (p.Arg4095=)
c.11980C>A (p.Arg3994=)
c.12514C>A (p.Arg4172=)
c.12511C>A (p.Arg4171=)
c.12493C>A (p.Arg4165=)
c.12469C>A (p.Arg4157=)
c.12466C>A (p.Arg4156=)
c.12463C>A (p.Arg4155=)
c.12415C>A (p.Arg4139=)
c.12403C>A (p.Arg4135=)
c.12265C>A (p.Arg4089=)
c.12112C>A (p.Arg4038=)
 gnomAD v4
Xg.53537561A>CCA413154594HUWE1c.11916T>G (p.Asn3972Lys)
c.12132T>G (p.Asn4044Lys)
c.2599T>G
n.267T>G
c.12105T>G (p.Asn4035Lys)
c.12381T>G (p.Asn4127Lys)
c.12378T>G (p.Asn4126Lys)
c.12336T>G (p.Asn4112Lys)
c.12333T>G (p.Asn4111Lys)
c.12330T>G (p.Asn4110Lys)
c.12282T>G (p.Asn4094Lys)
c.11979T>G (p.Asn3993Lys)
c.12513T>G (p.Asn4171Lys)
c.12510T>G (p.Asn4170Lys)
c.12492T>G (p.Asn4164Lys)
c.12468T>G (p.Asn4156Lys)
c.12465T>G (p.Asn4155Lys)
c.12462T>G (p.Asn4154Lys)
c.12414T>G (p.Asn4138Lys)
c.12402T>G (p.Asn4134Lys)
c.12264T>G (p.Asn4088Lys)
c.12111T>G (p.Asn4037Lys)
Xg.53537561A>GCA516423539HUWE1c.11916T>C (p.Asn3972=)
c.12132T>C (p.Asn4044=)
c.2599T>C
n.267T>C
c.12105T>C (p.Asn4035=)
c.12381T>C (p.Asn4127=)
c.12378T>C (p.Asn4126=)
c.12336T>C (p.Asn4112=)
c.12333T>C (p.Asn4111=)
c.12330T>C (p.Asn4110=)
c.12282T>C (p.Asn4094=)
c.11979T>C (p.Asn3993=)
c.12513T>C (p.Asn4171=)
c.12510T>C (p.Asn4170=)
c.12492T>C (p.Asn4164=)
c.12468T>C (p.Asn4156=)
c.12465T>C (p.Asn4155=)
c.12462T>C (p.Asn4154=)
c.12414T>C (p.Asn4138=)
c.12402T>C (p.Asn4134=)
c.12264T>C (p.Asn4088=)
c.12111T>C (p.Asn4037=)
Xg.53537561A>TCA413154598HUWE1c.11916T>A (p.Asn3972Lys)
c.12132T>A (p.Asn4044Lys)
c.2599T>A
n.267T>A
c.12105T>A (p.Asn4035Lys)
c.12381T>A (p.Asn4127Lys)
c.12378T>A (p.Asn4126Lys)
c.12336T>A (p.Asn4112Lys)
c.12333T>A (p.Asn4111Lys)
c.12330T>A (p.Asn4110Lys)
c.12282T>A (p.Asn4094Lys)
c.11979T>A (p.Asn3993Lys)
c.12513T>A (p.Asn4171Lys)
c.12510T>A (p.Asn4170Lys)
c.12492T>A (p.Asn4164Lys)
c.12468T>A (p.Asn4156Lys)
c.12465T>A (p.Asn4155Lys)
c.12462T>A (p.Asn4154Lys)
c.12414T>A (p.Asn4138Lys)
c.12402T>A (p.Asn4134Lys)
c.12264T>A (p.Asn4088Lys)
c.12111T>A (p.Asn4037Lys)
Xg.53537562T>ACA413154622HUWE1c.11915A>T (p.Asn3972Ile)
c.12131A>T (p.Asn4044Ile)
c.2598A>T
n.266A>T
c.12104A>T (p.Asn4035Ile)
c.12380A>T (p.Asn4127Ile)
c.12377A>T (p.Asn4126Ile)
c.12335A>T (p.Asn4112Ile)
c.12332A>T (p.Asn4111Ile)
c.12329A>T (p.Asn4110Ile)
c.12281A>T (p.Asn4094Ile)
c.11978A>T (p.Asn3993Ile)
c.12512A>T (p.Asn4171Ile)
c.12509A>T (p.Asn4170Ile)
c.12491A>T (p.Asn4164Ile)
c.12467A>T (p.Asn4156Ile)
c.12464A>T (p.Asn4155Ile)
c.12461A>T (p.Asn4154Ile)
c.12413A>T (p.Asn4138Ile)
c.12401A>T (p.Asn4134Ile)
c.12263A>T (p.Asn4088Ile)
c.12110A>T (p.Asn4037Ile)
Xg.53537562T>CCA413154634HUWE1c.11915A>G (p.Asn3972Ser)
c.12131A>G (p.Asn4044Ser)
c.2598A>G
n.266A>G
c.12104A>G (p.Asn4035Ser)
c.12380A>G (p.Asn4127Ser)
c.12377A>G (p.Asn4126Ser)
c.12335A>G (p.Asn4112Ser)
c.12332A>G (p.Asn4111Ser)
c.12329A>G (p.Asn4110Ser)
c.12281A>G (p.Asn4094Ser)
c.11978A>G (p.Asn3993Ser)
c.12512A>G (p.Asn4171Ser)
c.12509A>G (p.Asn4170Ser)
c.12491A>G (p.Asn4164Ser)
c.12467A>G (p.Asn4156Ser)
c.12464A>G (p.Asn4155Ser)
c.12461A>G (p.Asn4154Ser)
c.12413A>G (p.Asn4138Ser)
c.12401A>G (p.Asn4134Ser)
c.12263A>G (p.Asn4088Ser)
c.12110A>G (p.Asn4037Ser)
Xg.53537562T>GCA413154638HUWE1c.11915A>C (p.Asn3972Thr)
c.12131A>C (p.Asn4044Thr)
c.2598A>C
n.266A>C
c.12104A>C (p.Asn4035Thr)
c.12380A>C (p.Asn4127Thr)
c.12377A>C (p.Asn4126Thr)
c.12335A>C (p.Asn4112Thr)
c.12332A>C (p.Asn4111Thr)
c.12329A>C (p.Asn4110Thr)
c.12281A>C (p.Asn4094Thr)
c.11978A>C (p.Asn3993Thr)
c.12512A>C (p.Asn4171Thr)
c.12509A>C (p.Asn4170Thr)
c.12491A>C (p.Asn4164Thr)
c.12467A>C (p.Asn4156Thr)
c.12464A>C (p.Asn4155Thr)
c.12461A>C (p.Asn4154Thr)
c.12413A>C (p.Asn4138Thr)
c.12401A>C (p.Asn4134Thr)
c.12263A>C (p.Asn4088Thr)
c.12110A>C (p.Asn4037Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.53537562T=CA2429870451HUWE1c.11915A= (p.Asn3972=)
c.12131A= (p.Asn4044=)
c.2598A=
n.266A=
c.12104A= (p.Asn4035=)
c.12380A= (p.Asn4127=)
c.12377A= (p.Asn4126=)
c.12335A= (p.Asn4112=)
c.12332A= (p.Asn4111=)
c.12329A= (p.Asn4110=)
c.12281A= (p.Asn4094=)
c.11978A= (p.Asn3993=)
c.12512A= (p.Asn4171=)
c.12509A= (p.Asn4170=)
c.12491A= (p.Asn4164=)
c.12467A= (p.Asn4156=)
c.12464A= (p.Asn4155=)
c.12461A= (p.Asn4154=)
c.12413A= (p.Asn4138=)
c.12401A= (p.Asn4134=)
c.12263A= (p.Asn4088=)
c.12110A= (p.Asn4037=)
Xg.53537563T>ACA413154648HUWE1c.11914A>T (p.Asn3972Tyr)
c.12130A>T (p.Asn4044Tyr)
c.2597A>T
n.265A>T
c.12103A>T (p.Asn4035Tyr)
c.12379A>T (p.Asn4127Tyr)
c.12376A>T (p.Asn4126Tyr)
c.12334A>T (p.Asn4112Tyr)
c.12331A>T (p.Asn4111Tyr)
c.12328A>T (p.Asn4110Tyr)
c.12280A>T (p.Asn4094Tyr)
c.11977A>T (p.Asn3993Tyr)
c.12511A>T (p.Asn4171Tyr)
c.12508A>T (p.Asn4170Tyr)
c.12490A>T (p.Asn4164Tyr)
c.12466A>T (p.Asn4156Tyr)
c.12463A>T (p.Asn4155Tyr)
c.12460A>T (p.Asn4154Tyr)
c.12412A>T (p.Asn4138Tyr)
c.12400A>T (p.Asn4134Tyr)
c.12262A>T (p.Asn4088Tyr)
c.12109A>T (p.Asn4037Tyr)
Xg.53537563T>CCA413154656HUWE1c.11914A>G (p.Asn3972Asp)
c.12130A>G (p.Asn4044Asp)
c.2597A>G
n.265A>G
c.12103A>G (p.Asn4035Asp)
c.12379A>G (p.Asn4127Asp)
c.12376A>G (p.Asn4126Asp)
c.12334A>G (p.Asn4112Asp)
c.12331A>G (p.Asn4111Asp)
c.12328A>G (p.Asn4110Asp)
c.12280A>G (p.Asn4094Asp)
c.11977A>G (p.Asn3993Asp)
c.12511A>G (p.Asn4171Asp)
c.12508A>G (p.Asn4170Asp)
c.12490A>G (p.Asn4164Asp)
c.12466A>G (p.Asn4156Asp)
c.12463A>G (p.Asn4155Asp)
c.12460A>G (p.Asn4154Asp)
c.12412A>G (p.Asn4138Asp)
c.12400A>G (p.Asn4134Asp)
c.12262A>G (p.Asn4088Asp)
c.12109A>G (p.Asn4037Asp)
Xg.53537563T>GCA413154659HUWE1c.11914A>C (p.Asn3972His)
c.12130A>C (p.Asn4044His)
c.2597A>C
n.265A>C
c.12103A>C (p.Asn4035His)
c.12379A>C (p.Asn4127His)
c.12376A>C (p.Asn4126His)
c.12334A>C (p.Asn4112His)
c.12331A>C (p.Asn4111His)
c.12328A>C (p.Asn4110His)
c.12280A>C (p.Asn4094His)
c.11977A>C (p.Asn3993His)
c.12511A>C (p.Asn4171His)
c.12508A>C (p.Asn4170His)
c.12490A>C (p.Asn4164His)
c.12466A>C (p.Asn4156His)
c.12463A>C (p.Asn4155His)
c.12460A>C (p.Asn4154His)
c.12412A>C (p.Asn4138His)
c.12400A>C (p.Asn4134His)
c.12262A>C (p.Asn4088His)
c.12109A>C (p.Asn4037His)
Xg.53537564C>ACA413154668HUWE1c.11913G>T (p.Lys3971Asn)
c.12129G>T (p.Lys4043Asn)
c.2596G>T
n.264G>T
c.12102G>T (p.Lys4034Asn)
c.12378G>T (p.Lys4126Asn)
c.12375G>T (p.Lys4125Asn)
c.12333G>T (p.Lys4111Asn)
c.12330G>T (p.Lys4110Asn)
c.12327G>T (p.Lys4109Asn)
c.12279G>T (p.Lys4093Asn)
c.11976G>T (p.Lys3992Asn)
c.12510G>T (p.Lys4170Asn)
c.12507G>T (p.Lys4169Asn)
c.12489G>T (p.Lys4163Asn)
c.12465G>T (p.Lys4155Asn)
c.12462G>T (p.Lys4154Asn)
c.12459G>T (p.Lys4153Asn)
c.12411G>T (p.Lys4137Asn)
c.12399G>T (p.Lys4133Asn)
c.12261G>T (p.Lys4087Asn)
c.12108G>T (p.Lys4036Asn)
Xg.53537564C>GCA413154672HUWE1c.11913G>C (p.Lys3971Asn)
c.12129G>C (p.Lys4043Asn)
c.2596G>C
n.264G>C
c.12102G>C (p.Lys4034Asn)
c.12378G>C (p.Lys4126Asn)
c.12375G>C (p.Lys4125Asn)
c.12333G>C (p.Lys4111Asn)
c.12330G>C (p.Lys4110Asn)
c.12327G>C (p.Lys4109Asn)
c.12279G>C (p.Lys4093Asn)
c.11976G>C (p.Lys3992Asn)
c.12510G>C (p.Lys4170Asn)
c.12507G>C (p.Lys4169Asn)
c.12489G>C (p.Lys4163Asn)
c.12465G>C (p.Lys4155Asn)
c.12462G>C (p.Lys4154Asn)
c.12459G>C (p.Lys4153Asn)
c.12411G>C (p.Lys4137Asn)
c.12399G>C (p.Lys4133Asn)
c.12261G>C (p.Lys4087Asn)
c.12108G>C (p.Lys4036Asn)
Xg.53537564C>TCA516423555HUWE1c.11913G>A (p.Lys3971=)
c.12129G>A (p.Lys4043=)
c.2596G>A
n.264G>A
c.12102G>A (p.Lys4034=)
c.12378G>A (p.Lys4126=)
c.12375G>A (p.Lys4125=)
c.12333G>A (p.Lys4111=)
c.12330G>A (p.Lys4110=)
c.12327G>A (p.Lys4109=)
c.12279G>A (p.Lys4093=)
c.11976G>A (p.Lys3992=)
c.12510G>A (p.Lys4170=)
c.12507G>A (p.Lys4169=)
c.12489G>A (p.Lys4163=)
c.12465G>A (p.Lys4155=)
c.12462G>A (p.Lys4154=)
c.12459G>A (p.Lys4153=)
c.12411G>A (p.Lys4137=)
c.12399G>A (p.Lys4133=)
c.12261G>A (p.Lys4087=)
c.12108G>A (p.Lys4036=)
Xg.53537565T>ACA413154679HUWE1c.11912A>T (p.Lys3971Met)
c.12128A>T (p.Lys4043Met)
c.2595A>T
n.263A>T
c.12101A>T (p.Lys4034Met)
c.12377A>T (p.Lys4126Met)
c.12374A>T (p.Lys4125Met)
c.12332A>T (p.Lys4111Met)
c.12329A>T (p.Lys4110Met)
c.12326A>T (p.Lys4109Met)
c.12278A>T (p.Lys4093Met)
c.11975A>T (p.Lys3992Met)
c.12509A>T (p.Lys4170Met)
c.12506A>T (p.Lys4169Met)
c.12488A>T (p.Lys4163Met)
c.12464A>T (p.Lys4155Met)
c.12461A>T (p.Lys4154Met)
c.12458A>T (p.Lys4153Met)
c.12410A>T (p.Lys4137Met)
c.12398A>T (p.Lys4133Met)
c.12260A>T (p.Lys4087Met)
c.12107A>T (p.Lys4036Met)
Xg.53537565T>CCA413154689HUWE1c.11912A>G (p.Lys3971Arg)
c.12128A>G (p.Lys4043Arg)
c.2595A>G
n.263A>G
c.12101A>G (p.Lys4034Arg)
c.12377A>G (p.Lys4126Arg)
c.12374A>G (p.Lys4125Arg)
c.12332A>G (p.Lys4111Arg)
c.12329A>G (p.Lys4110Arg)
c.12326A>G (p.Lys4109Arg)
c.12278A>G (p.Lys4093Arg)
c.11975A>G (p.Lys3992Arg)
c.12509A>G (p.Lys4170Arg)
c.12506A>G (p.Lys4169Arg)
c.12488A>G (p.Lys4163Arg)
c.12464A>G (p.Lys4155Arg)
c.12461A>G (p.Lys4154Arg)
c.12458A>G (p.Lys4153Arg)
c.12410A>G (p.Lys4137Arg)
c.12398A>G (p.Lys4133Arg)
c.12260A>G (p.Lys4087Arg)
c.12107A>G (p.Lys4036Arg)
Xg.53537565T>GCA413154682HUWE1c.11912A>C (p.Lys3971Thr)
c.12128A>C (p.Lys4043Thr)
c.2595A>C
n.263A>C
c.12101A>C (p.Lys4034Thr)
c.12377A>C (p.Lys4126Thr)
c.12374A>C (p.Lys4125Thr)
c.12332A>C (p.Lys4111Thr)
c.12329A>C (p.Lys4110Thr)
c.12326A>C (p.Lys4109Thr)
c.12278A>C (p.Lys4093Thr)
c.11975A>C (p.Lys3992Thr)
c.12509A>C (p.Lys4170Thr)
c.12506A>C (p.Lys4169Thr)
c.12488A>C (p.Lys4163Thr)
c.12464A>C (p.Lys4155Thr)
c.12461A>C (p.Lys4154Thr)
c.12458A>C (p.Lys4153Thr)
c.12410A>C (p.Lys4137Thr)
c.12398A>C (p.Lys4133Thr)
c.12260A>C (p.Lys4087Thr)
c.12107A>C (p.Lys4036Thr)
Xg.53537566T>ACA413154693HUWE1c.11911A>T (p.Lys3971Ter)
c.12127A>T (p.Lys4043Ter)
c.2594A>T
n.262A>T
c.12100A>T (p.Lys4034Ter)
c.12376A>T (p.Lys4126Ter)
c.12373A>T (p.Lys4125Ter)
c.12331A>T (p.Lys4111Ter)
c.12328A>T (p.Lys4110Ter)
c.12325A>T (p.Lys4109Ter)
c.12277A>T (p.Lys4093Ter)
c.11974A>T (p.Lys3992Ter)
c.12508A>T (p.Lys4170Ter)
c.12505A>T (p.Lys4169Ter)
c.12487A>T (p.Lys4163Ter)
c.12463A>T (p.Lys4155Ter)
c.12460A>T (p.Lys4154Ter)
c.12457A>T (p.Lys4153Ter)
c.12409A>T (p.Lys4137Ter)
c.12397A>T (p.Lys4133Ter)
c.12259A>T (p.Lys4087Ter)
c.12106A>T (p.Lys4036Ter)
Xg.53537566T>CCA413154700HUWE1c.11911A>G (p.Lys3971Glu)
c.12127A>G (p.Lys4043Glu)
c.2594A>G
n.262A>G
c.12100A>G (p.Lys4034Glu)
c.12376A>G (p.Lys4126Glu)
c.12373A>G (p.Lys4125Glu)
c.12331A>G (p.Lys4111Glu)
c.12328A>G (p.Lys4110Glu)
c.12325A>G (p.Lys4109Glu)
c.12277A>G (p.Lys4093Glu)
c.11974A>G (p.Lys3992Glu)
c.12508A>G (p.Lys4170Glu)
c.12505A>G (p.Lys4169Glu)
c.12487A>G (p.Lys4163Glu)
c.12463A>G (p.Lys4155Glu)
c.12460A>G (p.Lys4154Glu)
c.12457A>G (p.Lys4153Glu)
c.12409A>G (p.Lys4137Glu)
c.12397A>G (p.Lys4133Glu)
c.12259A>G (p.Lys4087Glu)
c.12106A>G (p.Lys4036Glu)
Xg.53537566T>GCA413154696HUWE1c.11911A>C (p.Lys3971Gln)
c.12127A>C (p.Lys4043Gln)
c.2594A>C
n.262A>C
c.12100A>C (p.Lys4034Gln)
c.12376A>C (p.Lys4126Gln)
c.12373A>C (p.Lys4125Gln)
c.12331A>C (p.Lys4111Gln)
c.12328A>C (p.Lys4110Gln)
c.12325A>C (p.Lys4109Gln)
c.12277A>C (p.Lys4093Gln)
c.11974A>C (p.Lys3992Gln)
c.12508A>C (p.Lys4170Gln)
c.12505A>C (p.Lys4169Gln)
c.12487A>C (p.Lys4163Gln)
c.12463A>C (p.Lys4155Gln)
c.12460A>C (p.Lys4154Gln)
c.12457A>C (p.Lys4153Gln)
c.12409A>C (p.Lys4137Gln)
c.12397A>C (p.Lys4133Gln)
c.12259A>C (p.Lys4087Gln)
c.12106A>C (p.Lys4036Gln)
Xg.53537567C>ACA413154705HUWE1c.11910G>T (p.Met3970Ile)
c.12126G>T (p.Met4042Ile)
c.2593G>T
n.261G>T
c.12099G>T (p.Met4033Ile)
c.12375G>T (p.Met4125Ile)
c.12372G>T (p.Met4124Ile)
c.12330G>T (p.Met4110Ile)
c.12327G>T (p.Met4109Ile)
c.12324G>T (p.Met4108Ile)
c.12276G>T (p.Met4092Ile)
c.11973G>T (p.Met3991Ile)
c.12507G>T (p.Met4169Ile)
c.12504G>T (p.Met4168Ile)
c.12486G>T (p.Met4162Ile)
c.12462G>T (p.Met4154Ile)
c.12459G>T (p.Met4153Ile)
c.12456G>T (p.Met4152Ile)
c.12408G>T (p.Met4136Ile)
c.12396G>T (p.Met4132Ile)
c.12258G>T (p.Met4086Ile)
c.12105G>T (p.Met4035Ile)
Xg.53537567C=CA2429870452HUWE1c.11910G= (p.Met3970=)
c.12126G= (p.Met4042=)
c.2593G=
n.261G=
c.12099G= (p.Met4033=)
c.12375G= (p.Met4125=)
c.12372G= (p.Met4124=)
c.12330G= (p.Met4110=)
c.12327G= (p.Met4109=)
c.12324G= (p.Met4108=)
c.12276G= (p.Met4092=)
c.11973G= (p.Met3991=)
c.12507G= (p.Met4169=)
c.12504G= (p.Met4168=)
c.12486G= (p.Met4162=)
c.12462G= (p.Met4154=)
c.12459G= (p.Met4153=)
c.12456G= (p.Met4152=)
c.12408G= (p.Met4136=)
c.12396G= (p.Met4132=)
c.12258G= (p.Met4086=)
c.12105G= (p.Met4035=)
Xg.53537567C>GCA413154711HUWE1c.11910G>C (p.Met3970Ile)
c.12126G>C (p.Met4042Ile)
c.2593G>C
n.261G>C
c.12099G>C (p.Met4033Ile)
c.12375G>C (p.Met4125Ile)
c.12372G>C (p.Met4124Ile)
c.12330G>C (p.Met4110Ile)
c.12327G>C (p.Met4109Ile)
c.12324G>C (p.Met4108Ile)
c.12276G>C (p.Met4092Ile)
c.11973G>C (p.Met3991Ile)
c.12507G>C (p.Met4169Ile)
c.12504G>C (p.Met4168Ile)
c.12486G>C (p.Met4162Ile)
c.12462G>C (p.Met4154Ile)
c.12459G>C (p.Met4153Ile)
c.12456G>C (p.Met4152Ile)
c.12408G>C (p.Met4136Ile)
c.12396G>C (p.Met4132Ile)
c.12258G>C (p.Met4086Ile)
c.12105G>C (p.Met4035Ile)
Xg.53537567C>TCA329184681HUWE1c.11910G>A (p.Met3970Ile)
c.12126G>A (p.Met4042Ile)
c.2593G>A
n.261G>A
c.12099G>A (p.Met4033Ile)
c.12375G>A (p.Met4125Ile)
c.12372G>A (p.Met4124Ile)
c.12330G>A (p.Met4110Ile)
c.12327G>A (p.Met4109Ile)
c.12324G>A (p.Met4108Ile)
c.12276G>A (p.Met4092Ile)
c.11973G>A (p.Met3991Ile)
c.12507G>A (p.Met4169Ile)
c.12504G>A (p.Met4168Ile)
c.12486G>A (p.Met4162Ile)
c.12462G>A (p.Met4154Ile)
c.12459G>A (p.Met4153Ile)
c.12456G>A (p.Met4152Ile)
c.12408G>A (p.Met4136Ile)
c.12396G>A (p.Met4132Ile)
c.12258G>A (p.Met4086Ile)
c.12105G>A (p.Met4035Ile)
 dbSNP
Xg.53537568A>CCA413154716HUWE1c.11909T>G (p.Met3970Arg)
c.12125T>G (p.Met4042Arg)
c.2592T>G
n.260T>G
c.12098T>G (p.Met4033Arg)
c.12374T>G (p.Met4125Arg)
c.12371T>G (p.Met4124Arg)
c.12329T>G (p.Met4110Arg)
c.12326T>G (p.Met4109Arg)
c.12323T>G (p.Met4108Arg)
c.12275T>G (p.Met4092Arg)
c.11972T>G (p.Met3991Arg)
c.12506T>G (p.Met4169Arg)
c.12503T>G (p.Met4168Arg)
c.12485T>G (p.Met4162Arg)
c.12461T>G (p.Met4154Arg)
c.12458T>G (p.Met4153Arg)
c.12455T>G (p.Met4152Arg)
c.12407T>G (p.Met4136Arg)
c.12395T>G (p.Met4132Arg)
c.12257T>G (p.Met4086Arg)
c.12104T>G (p.Met4035Arg)
Xg.53537568A>GCA413154718HUWE1c.11909T>C (p.Met3970Thr)
c.12125T>C (p.Met4042Thr)
c.2592T>C
n.260T>C
c.12098T>C (p.Met4033Thr)
c.12374T>C (p.Met4125Thr)
c.12371T>C (p.Met4124Thr)
c.12329T>C (p.Met4110Thr)
c.12326T>C (p.Met4109Thr)
c.12323T>C (p.Met4108Thr)
c.12275T>C (p.Met4092Thr)
c.11972T>C (p.Met3991Thr)
c.12506T>C (p.Met4169Thr)
c.12503T>C (p.Met4168Thr)
c.12485T>C (p.Met4162Thr)
c.12461T>C (p.Met4154Thr)
c.12458T>C (p.Met4153Thr)
c.12455T>C (p.Met4152Thr)
c.12407T>C (p.Met4136Thr)
c.12395T>C (p.Met4132Thr)
c.12257T>C (p.Met4086Thr)
c.12104T>C (p.Met4035Thr)
Xg.53537568A>TCA413154720HUWE1c.11909T>A (p.Met3970Lys)
c.12125T>A (p.Met4042Lys)
c.2592T>A
n.260T>A
c.12098T>A (p.Met4033Lys)
c.12374T>A (p.Met4125Lys)
c.12371T>A (p.Met4124Lys)
c.12329T>A (p.Met4110Lys)
c.12326T>A (p.Met4109Lys)
c.12323T>A (p.Met4108Lys)
c.12275T>A (p.Met4092Lys)
c.11972T>A (p.Met3991Lys)
c.12506T>A (p.Met4169Lys)
c.12503T>A (p.Met4168Lys)
c.12485T>A (p.Met4162Lys)
c.12461T>A (p.Met4154Lys)
c.12458T>A (p.Met4153Lys)
c.12455T>A (p.Met4152Lys)
c.12407T>A (p.Met4136Lys)
c.12395T>A (p.Met4132Lys)
c.12257T>A (p.Met4086Lys)
c.12104T>A (p.Met4035Lys)
Xg.53537569T>ACA413154725HUWE1c.11908A>T (p.Met3970Leu)
c.12124A>T (p.Met4042Leu)
c.2591A>T
n.259A>T
c.12097A>T (p.Met4033Leu)
c.12373A>T (p.Met4125Leu)
c.12370A>T (p.Met4124Leu)
c.12328A>T (p.Met4110Leu)
c.12325A>T (p.Met4109Leu)
c.12322A>T (p.Met4108Leu)
c.12274A>T (p.Met4092Leu)
c.11971A>T (p.Met3991Leu)
c.12505A>T (p.Met4169Leu)
c.12502A>T (p.Met4168Leu)
c.12484A>T (p.Met4162Leu)
c.12460A>T (p.Met4154Leu)
c.12457A>T (p.Met4153Leu)
c.12454A>T (p.Met4152Leu)
c.12406A>T (p.Met4136Leu)
c.12394A>T (p.Met4132Leu)
c.12256A>T (p.Met4086Leu)
c.12103A>T (p.Met4035Leu)
Xg.53537569T>CCA413154738HUWE1c.11908A>G (p.Met3970Val)
c.12124A>G (p.Met4042Val)
c.2591A>G
n.259A>G
c.12097A>G (p.Met4033Val)
c.12373A>G (p.Met4125Val)
c.12370A>G (p.Met4124Val)
c.12328A>G (p.Met4110Val)
c.12325A>G (p.Met4109Val)
c.12322A>G (p.Met4108Val)
c.12274A>G (p.Met4092Val)
c.11971A>G (p.Met3991Val)
c.12505A>G (p.Met4169Val)
c.12502A>G (p.Met4168Val)
c.12484A>G (p.Met4162Val)
c.12460A>G (p.Met4154Val)
c.12457A>G (p.Met4153Val)
c.12454A>G (p.Met4152Val)
c.12406A>G (p.Met4136Val)
c.12394A>G (p.Met4132Val)
c.12256A>G (p.Met4086Val)
c.12103A>G (p.Met4035Val)
Xg.53537569T>GCA413154743HUWE1c.11908A>C (p.Met3970Leu)
c.12124A>C (p.Met4042Leu)
c.2591A>C
n.259A>C
c.12097A>C (p.Met4033Leu)
c.12373A>C (p.Met4125Leu)
c.12370A>C (p.Met4124Leu)
c.12328A>C (p.Met4110Leu)
c.12325A>C (p.Met4109Leu)
c.12322A>C (p.Met4108Leu)
c.12274A>C (p.Met4092Leu)
c.11971A>C (p.Met3991Leu)
c.12505A>C (p.Met4169Leu)
c.12502A>C (p.Met4168Leu)
c.12484A>C (p.Met4162Leu)
c.12460A>C (p.Met4154Leu)
c.12457A>C (p.Met4153Leu)
c.12454A>C (p.Met4152Leu)
c.12406A>C (p.Met4136Leu)
c.12394A>C (p.Met4132Leu)
c.12256A>C (p.Met4086Leu)
c.12103A>C (p.Met4035Leu)
Xg.53537570T>ACA413154744HUWE1c.11907A>T (p.Glu3969Asp)
c.12123A>T (p.Glu4041Asp)
c.2590A>T
n.258A>T
c.12096A>T (p.Glu4032Asp)
c.12372A>T (p.Glu4124Asp)
c.12369A>T (p.Glu4123Asp)
c.12327A>T (p.Glu4109Asp)
c.12324A>T (p.Glu4108Asp)
c.12321A>T (p.Glu4107Asp)
c.12273A>T (p.Glu4091Asp)
c.11970A>T (p.Glu3990Asp)
c.12504A>T (p.Glu4168Asp)
c.12501A>T (p.Glu4167Asp)
c.12483A>T (p.Glu4161Asp)
c.12459A>T (p.Glu4153Asp)
c.12456A>T (p.Glu4152Asp)
c.12453A>T (p.Glu4151Asp)
c.12405A>T (p.Glu4135Asp)
c.12393A>T (p.Glu4131Asp)
c.12255A>T (p.Glu4085Asp)
c.12102A>T (p.Glu4034Asp)
Xg.53537570T>CCA516423583HUWE1c.11907A>G (p.Glu3969=)
c.12123A>G (p.Glu4041=)
c.2590A>G
n.258A>G
c.12096A>G (p.Glu4032=)
c.12372A>G (p.Glu4124=)
c.12369A>G (p.Glu4123=)
c.12327A>G (p.Glu4109=)
c.12324A>G (p.Glu4108=)
c.12321A>G (p.Glu4107=)
c.12273A>G (p.Glu4091=)
c.11970A>G (p.Glu3990=)
c.12504A>G (p.Glu4168=)
c.12501A>G (p.Glu4167=)
c.12483A>G (p.Glu4161=)
c.12459A>G (p.Glu4153=)
c.12456A>G (p.Glu4152=)
c.12453A>G (p.Glu4151=)
c.12405A>G (p.Glu4135=)
c.12393A>G (p.Glu4131=)
c.12255A>G (p.Glu4085=)
c.12102A>G (p.Glu4034=)
Xg.53537570T>GCA413154745HUWE1c.11907A>C (p.Glu3969Asp)
c.12123A>C (p.Glu4041Asp)
c.2590A>C
n.258A>C
c.12096A>C (p.Glu4032Asp)
c.12372A>C (p.Glu4124Asp)
c.12369A>C (p.Glu4123Asp)
c.12327A>C (p.Glu4109Asp)
c.12324A>C (p.Glu4108Asp)
c.12321A>C (p.Glu4107Asp)
c.12273A>C (p.Glu4091Asp)
c.11970A>C (p.Glu3990Asp)
c.12504A>C (p.Glu4168Asp)
c.12501A>C (p.Glu4167Asp)
c.12483A>C (p.Glu4161Asp)
c.12459A>C (p.Glu4153Asp)
c.12456A>C (p.Glu4152Asp)
c.12453A>C (p.Glu4151Asp)
c.12405A>C (p.Glu4135Asp)
c.12393A>C (p.Glu4131Asp)
c.12255A>C (p.Glu4085Asp)
c.12102A>C (p.Glu4034Asp)
Xg.53537571T>ACA413154749HUWE1c.11906A>T (p.Glu3969Val)
c.12122A>T (p.Glu4041Val)
c.2589A>T
n.257A>T
c.12095A>T (p.Glu4032Val)
c.12371A>T (p.Glu4124Val)
c.12368A>T (p.Glu4123Val)
c.12326A>T (p.Glu4109Val)
c.12323A>T (p.Glu4108Val)
c.12320A>T (p.Glu4107Val)
c.12272A>T (p.Glu4091Val)
c.11969A>T (p.Glu3990Val)
c.12503A>T (p.Glu4168Val)
c.12500A>T (p.Glu4167Val)
c.12482A>T (p.Glu4161Val)
c.12458A>T (p.Glu4153Val)
c.12455A>T (p.Glu4152Val)
c.12452A>T (p.Glu4151Val)
c.12404A>T (p.Glu4135Val)
c.12392A>T (p.Glu4131Val)
c.12254A>T (p.Glu4085Val)
c.12101A>T (p.Glu4034Val)
Xg.53537571T>CCA413154751HUWE1c.11906A>G (p.Glu3969Gly)
c.12122A>G (p.Glu4041Gly)
c.2589A>G
n.257A>G
c.12095A>G (p.Glu4032Gly)
c.12371A>G (p.Glu4124Gly)
c.12368A>G (p.Glu4123Gly)
c.12326A>G (p.Glu4109Gly)
c.12323A>G (p.Glu4108Gly)
c.12320A>G (p.Glu4107Gly)
c.12272A>G (p.Glu4091Gly)
c.11969A>G (p.Glu3990Gly)
c.12503A>G (p.Glu4168Gly)
c.12500A>G (p.Glu4167Gly)
c.12482A>G (p.Glu4161Gly)
c.12458A>G (p.Glu4153Gly)
c.12455A>G (p.Glu4152Gly)
c.12452A>G (p.Glu4151Gly)
c.12404A>G (p.Glu4135Gly)
c.12392A>G (p.Glu4131Gly)
c.12254A>G (p.Glu4085Gly)
c.12101A>G (p.Glu4034Gly)
Xg.53537571T>GCA413154754HUWE1c.11906A>C (p.Glu3969Ala)
c.12122A>C (p.Glu4041Ala)
c.2589A>C
n.257A>C
c.12095A>C (p.Glu4032Ala)
c.12371A>C (p.Glu4124Ala)
c.12368A>C (p.Glu4123Ala)
c.12326A>C (p.Glu4109Ala)
c.12323A>C (p.Glu4108Ala)
c.12320A>C (p.Glu4107Ala)
c.12272A>C (p.Glu4091Ala)
c.11969A>C (p.Glu3990Ala)
c.12503A>C (p.Glu4168Ala)
c.12500A>C (p.Glu4167Ala)
c.12482A>C (p.Glu4161Ala)
c.12458A>C (p.Glu4153Ala)
c.12455A>C (p.Glu4152Ala)
c.12452A>C (p.Glu4151Ala)
c.12404A>C (p.Glu4135Ala)
c.12392A>C (p.Glu4131Ala)
c.12254A>C (p.Glu4085Ala)
c.12101A>C (p.Glu4034Ala)
Xg.53537572C>ACA413154765HUWE1c.11905G>T (p.Glu3969Ter)
c.12121G>T (p.Glu4041Ter)
c.2588G>T
n.256G>T
c.12094G>T (p.Glu4032Ter)
c.12370G>T (p.Glu4124Ter)
c.12367G>T (p.Glu4123Ter)
c.12325G>T (p.Glu4109Ter)
c.12322G>T (p.Glu4108Ter)
c.12319G>T (p.Glu4107Ter)
c.12271G>T (p.Glu4091Ter)
c.11968G>T (p.Glu3990Ter)
c.12502G>T (p.Glu4168Ter)
c.12499G>T (p.Glu4167Ter)
c.12481G>T (p.Glu4161Ter)
c.12457G>T (p.Glu4153Ter)
c.12454G>T (p.Glu4152Ter)
c.12451G>T (p.Glu4151Ter)
c.12403G>T (p.Glu4135Ter)
c.12391G>T (p.Glu4131Ter)
c.12253G>T (p.Glu4085Ter)
c.12100G>T (p.Glu4034Ter)
Xg.53537572C>GCA413154760HUWE1c.11905G>C (p.Glu3969Gln)
c.12121G>C (p.Glu4041Gln)
c.2588G>C
n.256G>C
c.12094G>C (p.Glu4032Gln)
c.12370G>C (p.Glu4124Gln)
c.12367G>C (p.Glu4123Gln)
c.12325G>C (p.Glu4109Gln)
c.12322G>C (p.Glu4108Gln)
c.12319G>C (p.Glu4107Gln)
c.12271G>C (p.Glu4091Gln)
c.11968G>C (p.Glu3990Gln)
c.12502G>C (p.Glu4168Gln)
c.12499G>C (p.Glu4167Gln)
c.12481G>C (p.Glu4161Gln)
c.12457G>C (p.Glu4153Gln)
c.12454G>C (p.Glu4152Gln)
c.12451G>C (p.Glu4151Gln)
c.12403G>C (p.Glu4135Gln)
c.12391G>C (p.Glu4131Gln)
c.12253G>C (p.Glu4085Gln)
c.12100G>C (p.Glu4034Gln)
Xg.53537572C>TCA413154762HUWE1c.11905G>A (p.Glu3969Lys)
c.12121G>A (p.Glu4041Lys)
c.2588G>A
n.256G>A
c.12094G>A (p.Glu4032Lys)
c.12370G>A (p.Glu4124Lys)
c.12367G>A (p.Glu4123Lys)
c.12325G>A (p.Glu4109Lys)
c.12322G>A (p.Glu4108Lys)
c.12319G>A (p.Glu4107Lys)
c.12271G>A (p.Glu4091Lys)
c.11968G>A (p.Glu3990Lys)
c.12502G>A (p.Glu4168Lys)
c.12499G>A (p.Glu4167Lys)
c.12481G>A (p.Glu4161Lys)
c.12457G>A (p.Glu4153Lys)
c.12454G>A (p.Glu4152Lys)
c.12451G>A (p.Glu4151Lys)
c.12403G>A (p.Glu4135Lys)
c.12391G>A (p.Glu4131Lys)
c.12253G>A (p.Glu4085Lys)
c.12100G>A (p.Glu4034Lys)
Xg.53537573T>ACA413154771HUWE1c.11904A>T (p.Glu3968Asp)
c.12120A>T (p.Glu4040Asp)
c.2587A>T
n.255A>T
c.12093A>T (p.Glu4031Asp)
c.12369A>T (p.Glu4123Asp)
c.12366A>T (p.Glu4122Asp)
c.12324A>T (p.Glu4108Asp)
c.12321A>T (p.Glu4107Asp)
c.12318A>T (p.Glu4106Asp)
c.12270A>T (p.Glu4090Asp)
c.11967A>T (p.Glu3989Asp)
c.12501A>T (p.Glu4167Asp)
c.12498A>T (p.Glu4166Asp)
c.12480A>T (p.Glu4160Asp)
c.12456A>T (p.Glu4152Asp)
c.12453A>T (p.Glu4151Asp)
c.12450A>T (p.Glu4150Asp)
c.12402A>T (p.Glu4134Asp)
c.12390A>T (p.Glu4130Asp)
c.12252A>T (p.Glu4084Asp)
c.12099A>T (p.Glu4033Asp)
Xg.53537573T>CCA516423596HUWE1c.11904A>G (p.Glu3968=)
c.12120A>G (p.Glu4040=)
c.2587A>G
n.255A>G
c.12093A>G (p.Glu4031=)
c.12369A>G (p.Glu4123=)
c.12366A>G (p.Glu4122=)
c.12324A>G (p.Glu4108=)
c.12321A>G (p.Glu4107=)
c.12318A>G (p.Glu4106=)
c.12270A>G (p.Glu4090=)
c.11967A>G (p.Glu3989=)
c.12501A>G (p.Glu4167=)
c.12498A>G (p.Glu4166=)
c.12480A>G (p.Glu4160=)
c.12456A>G (p.Glu4152=)
c.12453A>G (p.Glu4151=)
c.12450A>G (p.Glu4150=)
c.12402A>G (p.Glu4134=)
c.12390A>G (p.Glu4130=)
c.12252A>G (p.Glu4084=)
c.12099A>G (p.Glu4033=)
Xg.53537573T>GCA413154775HUWE1c.11904A>C (p.Glu3968Asp)
c.12120A>C (p.Glu4040Asp)
c.2587A>C
n.255A>C
c.12093A>C (p.Glu4031Asp)
c.12369A>C (p.Glu4123Asp)
c.12366A>C (p.Glu4122Asp)
c.12324A>C (p.Glu4108Asp)
c.12321A>C (p.Glu4107Asp)
c.12318A>C (p.Glu4106Asp)
c.12270A>C (p.Glu4090Asp)
c.11967A>C (p.Glu3989Asp)
c.12501A>C (p.Glu4167Asp)
c.12498A>C (p.Glu4166Asp)
c.12480A>C (p.Glu4160Asp)
c.12456A>C (p.Glu4152Asp)
c.12453A>C (p.Glu4151Asp)
c.12450A>C (p.Glu4150Asp)
c.12402A>C (p.Glu4134Asp)
c.12390A>C (p.Glu4130Asp)
c.12252A>C (p.Glu4084Asp)
c.12099A>C (p.Glu4033Asp)
Xg.53537574T>ACA413154778HUWE1c.11903A>T (p.Glu3968Val)
c.12119A>T (p.Glu4040Val)
c.2586A>T
n.254A>T
c.12092A>T (p.Glu4031Val)
c.12368A>T (p.Glu4123Val)
c.12365A>T (p.Glu4122Val)
c.12323A>T (p.Glu4108Val)
c.12320A>T (p.Glu4107Val)
c.12317A>T (p.Glu4106Val)
c.12269A>T (p.Glu4090Val)
c.11966A>T (p.Glu3989Val)
c.12500A>T (p.Glu4167Val)
c.12497A>T (p.Glu4166Val)
c.12479A>T (p.Glu4160Val)
c.12455A>T (p.Glu4152Val)
c.12452A>T (p.Glu4151Val)
c.12449A>T (p.Glu4150Val)
c.12401A>T (p.Glu4134Val)
c.12389A>T (p.Glu4130Val)
c.12251A>T (p.Glu4084Val)
c.12098A>T (p.Glu4033Val)
Xg.53537574T>CCA413154784HUWE1c.11903A>G (p.Glu3968Gly)
c.12119A>G (p.Glu4040Gly)
c.2586A>G
n.254A>G
c.12092A>G (p.Glu4031Gly)
c.12368A>G (p.Glu4123Gly)
c.12365A>G (p.Glu4122Gly)
c.12323A>G (p.Glu4108Gly)
c.12320A>G (p.Glu4107Gly)
c.12317A>G (p.Glu4106Gly)
c.12269A>G (p.Glu4090Gly)
c.11966A>G (p.Glu3989Gly)
c.12500A>G (p.Glu4167Gly)
c.12497A>G (p.Glu4166Gly)
c.12479A>G (p.Glu4160Gly)
c.12455A>G (p.Glu4152Gly)
c.12452A>G (p.Glu4151Gly)
c.12449A>G (p.Glu4150Gly)
c.12401A>G (p.Glu4134Gly)
c.12389A>G (p.Glu4130Gly)
c.12251A>G (p.Glu4084Gly)
c.12098A>G (p.Glu4033Gly)
Xg.53537574T>GCA413154787HUWE1c.11903A>C (p.Glu3968Ala)
c.12119A>C (p.Glu4040Ala)
c.2586A>C
n.254A>C
c.12092A>C (p.Glu4031Ala)
c.12368A>C (p.Glu4123Ala)
c.12365A>C (p.Glu4122Ala)
c.12323A>C (p.Glu4108Ala)
c.12320A>C (p.Glu4107Ala)
c.12317A>C (p.Glu4106Ala)
c.12269A>C (p.Glu4090Ala)
c.11966A>C (p.Glu3989Ala)
c.12500A>C (p.Glu4167Ala)
c.12497A>C (p.Glu4166Ala)
c.12479A>C (p.Glu4160Ala)
c.12455A>C (p.Glu4152Ala)
c.12452A>C (p.Glu4151Ala)
c.12449A>C (p.Glu4150Ala)
c.12401A>C (p.Glu4134Ala)
c.12389A>C (p.Glu4130Ala)
c.12251A>C (p.Glu4084Ala)
c.12098A>C (p.Glu4033Ala)
Xg.53537575C>ACA413154793HUWE1c.11902G>T (p.Glu3968Ter)
c.12118G>T (p.Glu4040Ter)
c.2585G>T
n.253G>T
c.12091G>T (p.Glu4031Ter)
c.12367G>T (p.Glu4123Ter)
c.12364G>T (p.Glu4122Ter)
c.12322G>T (p.Glu4108Ter)
c.12319G>T (p.Glu4107Ter)
c.12316G>T (p.Glu4106Ter)
c.12268G>T (p.Glu4090Ter)
c.11965G>T (p.Glu3989Ter)
c.12499G>T (p.Glu4167Ter)
c.12496G>T (p.Glu4166Ter)
c.12478G>T (p.Glu4160Ter)
c.12454G>T (p.Glu4152Ter)
c.12451G>T (p.Glu4151Ter)
c.12448G>T (p.Glu4150Ter)
c.12400G>T (p.Glu4134Ter)
c.12388G>T (p.Glu4130Ter)
c.12250G>T (p.Glu4084Ter)
c.12097G>T (p.Glu4033Ter)
 COSMIC COSMIC
Xg.53537575C>GCA413154796HUWE1c.11902G>C (p.Glu3968Gln)
c.12118G>C (p.Glu4040Gln)
c.2585G>C
n.253G>C
c.12091G>C (p.Glu4031Gln)
c.12367G>C (p.Glu4123Gln)
c.12364G>C (p.Glu4122Gln)
c.12322G>C (p.Glu4108Gln)
c.12319G>C (p.Glu4107Gln)
c.12316G>C (p.Glu4106Gln)
c.12268G>C (p.Glu4090Gln)
c.11965G>C (p.Glu3989Gln)
c.12499G>C (p.Glu4167Gln)
c.12496G>C (p.Glu4166Gln)
c.12478G>C (p.Glu4160Gln)
c.12454G>C (p.Glu4152Gln)
c.12451G>C (p.Glu4151Gln)
c.12448G>C (p.Glu4150Gln)
c.12400G>C (p.Glu4134Gln)
c.12388G>C (p.Glu4130Gln)
c.12250G>C (p.Glu4084Gln)
c.12097G>C (p.Glu4033Gln)
Xg.53537575C>TCA413154804HUWE1c.11902G>A (p.Glu3968Lys)
c.12118G>A (p.Glu4040Lys)
c.2585G>A
n.253G>A
c.12091G>A (p.Glu4031Lys)
c.12367G>A (p.Glu4123Lys)
c.12364G>A (p.Glu4122Lys)
c.12322G>A (p.Glu4108Lys)
c.12319G>A (p.Glu4107Lys)
c.12316G>A (p.Glu4106Lys)
c.12268G>A (p.Glu4090Lys)
c.11965G>A (p.Glu3989Lys)
c.12499G>A (p.Glu4167Lys)
c.12496G>A (p.Glu4166Lys)
c.12478G>A (p.Glu4160Lys)
c.12454G>A (p.Glu4152Lys)
c.12451G>A (p.Glu4151Lys)
c.12448G>A (p.Glu4150Lys)
c.12400G>A (p.Glu4134Lys)
c.12388G>A (p.Glu4130Lys)
c.12250G>A (p.Glu4084Lys)
c.12097G>A (p.Glu4033Lys)
Xg.53537576G>ACA10421278HUWE1c.11901C>T (p.Pro3967=)
c.12117C>T (p.Pro4039=)
c.2584C>T
n.252C>T
c.12090C>T (p.Pro4030=)
c.12366C>T (p.Pro4122=)
c.12363C>T (p.Pro4121=)
c.12321C>T (p.Pro4107=)
c.12318C>T (p.Pro4106=)
c.12315C>T (p.Pro4105=)
c.12267C>T (p.Pro4089=)
c.11964C>T (p.Pro3988=)
c.12498C>T (p.Pro4166=)
c.12495C>T (p.Pro4165=)
c.12477C>T (p.Pro4159=)
c.12453C>T (p.Pro4151=)
c.12450C>T (p.Pro4150=)
c.12447C>T (p.Pro4149=)
c.12399C>T (p.Pro4133=)
c.12387C>T (p.Pro4129=)
c.12249C>T (p.Pro4083=)
c.12096C>T (p.Pro4032=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53537576G>CCA516423610HUWE1c.11901C>G (p.Pro3967=)
c.12117C>G (p.Pro4039=)
c.2584C>G
n.252C>G
c.12090C>G (p.Pro4030=)
c.12366C>G (p.Pro4122=)
c.12363C>G (p.Pro4121=)
c.12321C>G (p.Pro4107=)
c.12318C>G (p.Pro4106=)
c.12315C>G (p.Pro4105=)
c.12267C>G (p.Pro4089=)
c.11964C>G (p.Pro3988=)
c.12498C>G (p.Pro4166=)
c.12495C>G (p.Pro4165=)
c.12477C>G (p.Pro4159=)
c.12453C>G (p.Pro4151=)
c.12450C>G (p.Pro4150=)
c.12447C>G (p.Pro4149=)
c.12399C>G (p.Pro4133=)
c.12387C>G (p.Pro4129=)
c.12249C>G (p.Pro4083=)
c.12096C>G (p.Pro4032=)
Xg.53537576G=CA2429870453HUWE1c.11901C= (p.Pro3967=)
c.12117C= (p.Pro4039=)
c.2584C=
n.252C=
c.12090C= (p.Pro4030=)
c.12366C= (p.Pro4122=)
c.12363C= (p.Pro4121=)
c.12321C= (p.Pro4107=)
c.12318C= (p.Pro4106=)
c.12315C= (p.Pro4105=)
c.12267C= (p.Pro4089=)
c.11964C= (p.Pro3988=)
c.12498C= (p.Pro4166=)
c.12495C= (p.Pro4165=)
c.12477C= (p.Pro4159=)
c.12453C= (p.Pro4151=)
c.12450C= (p.Pro4150=)
c.12447C= (p.Pro4149=)
c.12399C= (p.Pro4133=)
c.12387C= (p.Pro4129=)
c.12249C= (p.Pro4083=)
c.12096C= (p.Pro4032=)
Xg.53537576G>TCA413154810HUWE1c.11901C>A (p.Pro3967=)
c.12117C>A (p.Pro4039=)
c.2584C>A
n.252C>A
c.12090C>A (p.Pro4030=)
c.12366C>A (p.Pro4122=)
c.12363C>A (p.Pro4121=)
c.12321C>A (p.Pro4107=)
c.12318C>A (p.Pro4106=)
c.12315C>A (p.Pro4105=)
c.12267C>A (p.Pro4089=)
c.11964C>A (p.Pro3988=)
c.12498C>A (p.Pro4166=)
c.12495C>A (p.Pro4165=)
c.12477C>A (p.Pro4159=)
c.12453C>A (p.Pro4151=)
c.12450C>A (p.Pro4150=)
c.12447C>A (p.Pro4149=)
c.12399C>A (p.Pro4133=)
c.12387C>A (p.Pro4129=)
c.12249C>A (p.Pro4083=)
c.12096C>A (p.Pro4032=)
 dbSNP gnomAD v4
Xg.53537577G>ACA413154818HUWE1c.11900C>T (p.Pro3967Leu)
c.12116C>T (p.Pro4039Leu)
c.2583C>T
n.251C>T
c.12089C>T (p.Pro4030Leu)
c.12365C>T (p.Pro4122Leu)
c.12362C>T (p.Pro4121Leu)
c.12320C>T (p.Pro4107Leu)
c.12317C>T (p.Pro4106Leu)
c.12314C>T (p.Pro4105Leu)
c.12266C>T (p.Pro4089Leu)
c.11963C>T (p.Pro3988Leu)
c.12497C>T (p.Pro4166Leu)
c.12494C>T (p.Pro4165Leu)
c.12476C>T (p.Pro4159Leu)
c.12452C>T (p.Pro4151Leu)
c.12449C>T (p.Pro4150Leu)
c.12446C>T (p.Pro4149Leu)
c.12398C>T (p.Pro4133Leu)
c.12386C>T (p.Pro4129Leu)
c.12248C>T (p.Pro4083Leu)
c.12095C>T (p.Pro4032Leu)
Xg.53537577G>CCA413154816HUWE1c.11900C>G (p.Pro3967Arg)
c.12116C>G (p.Pro4039Arg)
c.2583C>G
n.251C>G
c.12089C>G (p.Pro4030Arg)
c.12365C>G (p.Pro4122Arg)
c.12362C>G (p.Pro4121Arg)
c.12320C>G (p.Pro4107Arg)
c.12317C>G (p.Pro4106Arg)
c.12314C>G (p.Pro4105Arg)
c.12266C>G (p.Pro4089Arg)
c.11963C>G (p.Pro3988Arg)
c.12497C>G (p.Pro4166Arg)
c.12494C>G (p.Pro4165Arg)
c.12476C>G (p.Pro4159Arg)
c.12452C>G (p.Pro4151Arg)
c.12449C>G (p.Pro4150Arg)
c.12446C>G (p.Pro4149Arg)
c.12398C>G (p.Pro4133Arg)
c.12386C>G (p.Pro4129Arg)
c.12248C>G (p.Pro4083Arg)
c.12095C>G (p.Pro4032Arg)
Xg.53537577G>TCA413154815HUWE1c.11900C>A (p.Pro3967His)
c.12116C>A (p.Pro4039His)
c.2583C>A
n.251C>A
c.12089C>A (p.Pro4030His)
c.12365C>A (p.Pro4122His)
c.12362C>A (p.Pro4121His)
c.12320C>A (p.Pro4107His)
c.12317C>A (p.Pro4106His)
c.12314C>A (p.Pro4105His)
c.12266C>A (p.Pro4089His)
c.11963C>A (p.Pro3988His)
c.12497C>A (p.Pro4166His)
c.12494C>A (p.Pro4165His)
c.12476C>A (p.Pro4159His)
c.12452C>A (p.Pro4151His)
c.12449C>A (p.Pro4150His)
c.12446C>A (p.Pro4149His)
c.12398C>A (p.Pro4133His)
c.12386C>A (p.Pro4129His)
c.12248C>A (p.Pro4083His)
c.12095C>A (p.Pro4032His)
Xg.53537578G>ACA413154821HUWE1c.11899C>T (p.Pro3967Ser)
c.12115C>T (p.Pro4039Ser)
c.2582C>T
n.250C>T
c.12088C>T (p.Pro4030Ser)
c.12364C>T (p.Pro4122Ser)
c.12361C>T (p.Pro4121Ser)
c.12319C>T (p.Pro4107Ser)
c.12316C>T (p.Pro4106Ser)
c.12313C>T (p.Pro4105Ser)
c.12265C>T (p.Pro4089Ser)
c.11962C>T (p.Pro3988Ser)
c.12496C>T (p.Pro4166Ser)
c.12493C>T (p.Pro4165Ser)
c.12475C>T (p.Pro4159Ser)
c.12451C>T (p.Pro4151Ser)
c.12448C>T (p.Pro4150Ser)
c.12445C>T (p.Pro4149Ser)
c.12397C>T (p.Pro4133Ser)
c.12385C>T (p.Pro4129Ser)
c.12247C>T (p.Pro4083Ser)
c.12094C>T (p.Pro4032Ser)
Xg.53537578G>CCA413154824HUWE1c.11899C>G (p.Pro3967Ala)
c.12115C>G (p.Pro4039Ala)
c.2582C>G
n.250C>G
c.12088C>G (p.Pro4030Ala)
c.12364C>G (p.Pro4122Ala)
c.12361C>G (p.Pro4121Ala)
c.12319C>G (p.Pro4107Ala)
c.12316C>G (p.Pro4106Ala)
c.12313C>G (p.Pro4105Ala)
c.12265C>G (p.Pro4089Ala)
c.11962C>G (p.Pro3988Ala)
c.12496C>G (p.Pro4166Ala)
c.12493C>G (p.Pro4165Ala)
c.12475C>G (p.Pro4159Ala)
c.12451C>G (p.Pro4151Ala)
c.12448C>G (p.Pro4150Ala)
c.12445C>G (p.Pro4149Ala)
c.12397C>G (p.Pro4133Ala)
c.12385C>G (p.Pro4129Ala)
c.12247C>G (p.Pro4083Ala)
c.12094C>G (p.Pro4032Ala)
Xg.53537578G>TCA413154828HUWE1c.11899C>A (p.Pro3967Thr)
c.12115C>A (p.Pro4039Thr)
c.2582C>A
n.250C>A
c.12088C>A (p.Pro4030Thr)
c.12364C>A (p.Pro4122Thr)
c.12361C>A (p.Pro4121Thr)
c.12319C>A (p.Pro4107Thr)
c.12316C>A (p.Pro4106Thr)
c.12313C>A (p.Pro4105Thr)
c.12265C>A (p.Pro4089Thr)
c.11962C>A (p.Pro3988Thr)
c.12496C>A (p.Pro4166Thr)
c.12493C>A (p.Pro4165Thr)
c.12475C>A (p.Pro4159Thr)
c.12451C>A (p.Pro4151Thr)
c.12448C>A (p.Pro4150Thr)
c.12445C>A (p.Pro4149Thr)
c.12397C>A (p.Pro4133Thr)
c.12385C>A (p.Pro4129Thr)
c.12247C>A (p.Pro4083Thr)
c.12094C>A (p.Pro4032Thr)
Xg.53537579G>ACA10421279HUWE1c.11898C>T (p.Ser3966=)
c.12114C>T (p.Ser4038=)
c.2581C>T
n.249C>T
c.12087C>T (p.Ser4029=)
c.12363C>T (p.Ser4121=)
c.12360C>T (p.Ser4120=)
c.12318C>T (p.Ser4106=)
c.12315C>T (p.Ser4105=)
c.12312C>T (p.Ser4104=)
c.12264C>T (p.Ser4088=)
c.11961C>T (p.Ser3987=)
c.12495C>T (p.Ser4165=)
c.12492C>T (p.Ser4164=)
c.12474C>T (p.Ser4158=)
c.12450C>T (p.Ser4150=)
c.12447C>T (p.Ser4149=)
c.12444C>T (p.Ser4148=)
c.12396C>T (p.Ser4132=)
c.12384C>T (p.Ser4128=)
c.12246C>T (p.Ser4082=)
c.12093C>T (p.Ser4031=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.53537579G>CCA516423628HUWE1c.11898C>G (p.Ser3966=)
c.12114C>G (p.Ser4038=)
c.2581C>G
n.249C>G
c.12087C>G (p.Ser4029=)
c.12363C>G (p.Ser4121=)
c.12360C>G (p.Ser4120=)
c.12318C>G (p.Ser4106=)
c.12315C>G (p.Ser4105=)
c.12312C>G (p.Ser4104=)
c.12264C>G (p.Ser4088=)
c.11961C>G (p.Ser3987=)
c.12495C>G (p.Ser4165=)
c.12492C>G (p.Ser4164=)
c.12474C>G (p.Ser4158=)
c.12450C>G (p.Ser4150=)
c.12447C>G (p.Ser4149=)
c.12444C>G (p.Ser4148=)
c.12396C>G (p.Ser4132=)
c.12384C>G (p.Ser4128=)
c.12246C>G (p.Ser4082=)
c.12093C>G (p.Ser4031=)
Xg.53537579G=CA2429870454HUWE1c.11898C= (p.Ser3966=)
c.12114C= (p.Ser4038=)
c.2581C=
n.249C=
c.12087C= (p.Ser4029=)
c.12363C= (p.Ser4121=)
c.12360C= (p.Ser4120=)
c.12318C= (p.Ser4106=)
c.12315C= (p.Ser4105=)
c.12312C= (p.Ser4104=)
c.12264C= (p.Ser4088=)
c.11961C= (p.Ser3987=)
c.12495C= (p.Ser4165=)
c.12492C= (p.Ser4164=)
c.12474C= (p.Ser4158=)
c.12450C= (p.Ser4150=)
c.12447C= (p.Ser4149=)
c.12444C= (p.Ser4148=)
c.12396C= (p.Ser4132=)
c.12384C= (p.Ser4128=)
c.12246C= (p.Ser4082=)
c.12093C= (p.Ser4031=)
Xg.53537579G>TCA516423629HUWE1c.11898C>A (p.Ser3966=)
c.12114C>A (p.Ser4038=)
c.2581C>A
n.249C>A
c.12087C>A (p.Ser4029=)
c.12363C>A (p.Ser4121=)
c.12360C>A (p.Ser4120=)
c.12318C>A (p.Ser4106=)
c.12315C>A (p.Ser4105=)
c.12312C>A (p.Ser4104=)
c.12264C>A (p.Ser4088=)
c.11961C>A (p.Ser3987=)
c.12495C>A (p.Ser4165=)
c.12492C>A (p.Ser4164=)
c.12474C>A (p.Ser4158=)
c.12450C>A (p.Ser4150=)
c.12447C>A (p.Ser4149=)
c.12444C>A (p.Ser4148=)
c.12396C>A (p.Ser4132=)
c.12384C>A (p.Ser4128=)
c.12246C>A (p.Ser4082=)
c.12093C>A (p.Ser4031=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53537580G>ACA413154837HUWE1c.11897C>T (p.Ser3966Phe)
c.12113C>T (p.Ser4038Phe)
c.2580C>T
n.248C>T
c.12086C>T (p.Ser4029Phe)
c.12362C>T (p.Ser4121Phe)
c.12359C>T (p.Ser4120Phe)
c.12317C>T (p.Ser4106Phe)
c.12314C>T (p.Ser4105Phe)
c.12311C>T (p.Ser4104Phe)
c.12263C>T (p.Ser4088Phe)
c.11960C>T (p.Ser3987Phe)
c.12494C>T (p.Ser4165Phe)
c.12491C>T (p.Ser4164Phe)
c.12473C>T (p.Ser4158Phe)
c.12449C>T (p.Ser4150Phe)
c.12446C>T (p.Ser4149Phe)
c.12443C>T (p.Ser4148Phe)
c.12395C>T (p.Ser4132Phe)
c.12383C>T (p.Ser4128Phe)
c.12245C>T (p.Ser4082Phe)
c.12092C>T (p.Ser4031Phe)
Xg.53537580G>CCA413154840HUWE1c.11897C>G (p.Ser3966Cys)
c.12113C>G (p.Ser4038Cys)
c.2580C>G
n.248C>G
c.12086C>G (p.Ser4029Cys)
c.12362C>G (p.Ser4121Cys)
c.12359C>G (p.Ser4120Cys)
c.12317C>G (p.Ser4106Cys)
c.12314C>G (p.Ser4105Cys)
c.12311C>G (p.Ser4104Cys)
c.12263C>G (p.Ser4088Cys)
c.11960C>G (p.Ser3987Cys)
c.12494C>G (p.Ser4165Cys)
c.12491C>G (p.Ser4164Cys)
c.12473C>G (p.Ser4158Cys)
c.12449C>G (p.Ser4150Cys)
c.12446C>G (p.Ser4149Cys)
c.12443C>G (p.Ser4148Cys)
c.12395C>G (p.Ser4132Cys)
c.12383C>G (p.Ser4128Cys)
c.12245C>G (p.Ser4082Cys)
c.12092C>G (p.Ser4031Cys)
 gnomAD v4
Xg.53537580G>TCA413154844HUWE1c.11897C>A (p.Ser3966Tyr)
c.12113C>A (p.Ser4038Tyr)
c.2580C>A
n.248C>A
c.12086C>A (p.Ser4029Tyr)
c.12362C>A (p.Ser4121Tyr)
c.12359C>A (p.Ser4120Tyr)
c.12317C>A (p.Ser4106Tyr)
c.12314C>A (p.Ser4105Tyr)
c.12311C>A (p.Ser4104Tyr)
c.12263C>A (p.Ser4088Tyr)
c.11960C>A (p.Ser3987Tyr)
c.12494C>A (p.Ser4165Tyr)
c.12491C>A (p.Ser4164Tyr)
c.12473C>A (p.Ser4158Tyr)
c.12449C>A (p.Ser4150Tyr)
c.12446C>A (p.Ser4149Tyr)
c.12443C>A (p.Ser4148Tyr)
c.12395C>A (p.Ser4132Tyr)
c.12383C>A (p.Ser4128Tyr)
c.12245C>A (p.Ser4082Tyr)
c.12092C>A (p.Ser4031Tyr)
Xg.53537581A>CCA413154847HUWE1c.11896T>G (p.Ser3966Ala)
c.12112T>G (p.Ser4038Ala)
c.2579T>G
n.247T>G
c.12085T>G (p.Ser4029Ala)
c.12361T>G (p.Ser4121Ala)
c.12358T>G (p.Ser4120Ala)
c.12316T>G (p.Ser4106Ala)
c.12313T>G (p.Ser4105Ala)
c.12310T>G (p.Ser4104Ala)
c.12262T>G (p.Ser4088Ala)
c.11959T>G (p.Ser3987Ala)
c.12493T>G (p.Ser4165Ala)
c.12490T>G (p.Ser4164Ala)
c.12472T>G (p.Ser4158Ala)
c.12448T>G (p.Ser4150Ala)
c.12445T>G (p.Ser4149Ala)
c.12442T>G (p.Ser4148Ala)
c.12394T>G (p.Ser4132Ala)
c.12382T>G (p.Ser4128Ala)
c.12244T>G (p.Ser4082Ala)
c.12091T>G (p.Ser4031Ala)
Xg.53537581A>GCA413154850HUWE1c.11896T>C (p.Ser3966Pro)
c.12112T>C (p.Ser4038Pro)
c.2579T>C
n.247T>C
c.12085T>C (p.Ser4029Pro)
c.12361T>C (p.Ser4121Pro)
c.12358T>C (p.Ser4120Pro)
c.12316T>C (p.Ser4106Pro)
c.12313T>C (p.Ser4105Pro)
c.12310T>C (p.Ser4104Pro)
c.12262T>C (p.Ser4088Pro)
c.11959T>C (p.Ser3987Pro)
c.12493T>C (p.Ser4165Pro)
c.12490T>C (p.Ser4164Pro)
c.12472T>C (p.Ser4158Pro)
c.12448T>C (p.Ser4150Pro)
c.12445T>C (p.Ser4149Pro)
c.12442T>C (p.Ser4148Pro)
c.12394T>C (p.Ser4132Pro)
c.12382T>C (p.Ser4128Pro)
c.12244T>C (p.Ser4082Pro)
c.12091T>C (p.Ser4031Pro)
Xg.53537581A>TCA413154856HUWE1c.11896T>A (p.Ser3966Thr)
c.12112T>A (p.Ser4038Thr)
c.2579T>A
n.247T>A
c.12085T>A (p.Ser4029Thr)
c.12361T>A (p.Ser4121Thr)
c.12358T>A (p.Ser4120Thr)
c.12316T>A (p.Ser4106Thr)
c.12313T>A (p.Ser4105Thr)
c.12310T>A (p.Ser4104Thr)
c.12262T>A (p.Ser4088Thr)
c.11959T>A (p.Ser3987Thr)
c.12493T>A (p.Ser4165Thr)
c.12490T>A (p.Ser4164Thr)
c.12472T>A (p.Ser4158Thr)
c.12448T>A (p.Ser4150Thr)
c.12445T>A (p.Ser4149Thr)
c.12442T>A (p.Ser4148Thr)
c.12394T>A (p.Ser4132Thr)
c.12382T>A (p.Ser4128Thr)
c.12244T>A (p.Ser4082Thr)
c.12091T>A (p.Ser4031Thr)
Xg.53537582T>ACA413154863HUWE1c.11895A>T (p.Lys3965Asn)
c.12111A>T (p.Lys4037Asn)
c.2578A>T
n.246A>T
c.12084A>T (p.Lys4028Asn)
c.12360A>T (p.Lys4120Asn)
c.12357A>T (p.Lys4119Asn)
c.12315A>T (p.Lys4105Asn)
c.12312A>T (p.Lys4104Asn)
c.12309A>T (p.Lys4103Asn)
c.12261A>T (p.Lys4087Asn)
c.11958A>T (p.Lys3986Asn)
c.12492A>T (p.Lys4164Asn)
c.12489A>T (p.Lys4163Asn)
c.12471A>T (p.Lys4157Asn)
c.12447A>T (p.Lys4149Asn)
c.12444A>T (p.Lys4148Asn)
c.12441A>T (p.Lys4147Asn)
c.12393A>T (p.Lys4131Asn)
c.12381A>T (p.Lys4127Asn)
c.12243A>T (p.Lys4081Asn)
c.12090A>T (p.Lys4030Asn)
Xg.53537582T>CCA516423638HUWE1c.11895A>G (p.Lys3965=)
c.12111A>G (p.Lys4037=)
c.2578A>G
n.246A>G
c.12084A>G (p.Lys4028=)
c.12360A>G (p.Lys4120=)
c.12357A>G (p.Lys4119=)
c.12315A>G (p.Lys4105=)
c.12312A>G (p.Lys4104=)
c.12309A>G (p.Lys4103=)
c.12261A>G (p.Lys4087=)
c.11958A>G (p.Lys3986=)
c.12492A>G (p.Lys4164=)
c.12489A>G (p.Lys4163=)
c.12471A>G (p.Lys4157=)
c.12447A>G (p.Lys4149=)
c.12444A>G (p.Lys4148=)
c.12441A>G (p.Lys4147=)
c.12393A>G (p.Lys4131=)
c.12381A>G (p.Lys4127=)
c.12243A>G (p.Lys4081=)
c.12090A>G (p.Lys4030=)
Xg.53537582T>GCA413154868HUWE1c.11895A>C (p.Lys3965Asn)
c.12111A>C (p.Lys4037Asn)
c.2578A>C
n.246A>C
c.12084A>C (p.Lys4028Asn)
c.12360A>C (p.Lys4120Asn)
c.12357A>C (p.Lys4119Asn)
c.12315A>C (p.Lys4105Asn)
c.12312A>C (p.Lys4104Asn)
c.12309A>C (p.Lys4103Asn)
c.12261A>C (p.Lys4087Asn)
c.11958A>C (p.Lys3986Asn)
c.12492A>C (p.Lys4164Asn)
c.12489A>C (p.Lys4163Asn)
c.12471A>C (p.Lys4157Asn)
c.12447A>C (p.Lys4149Asn)
c.12444A>C (p.Lys4148Asn)
c.12441A>C (p.Lys4147Asn)
c.12393A>C (p.Lys4131Asn)
c.12381A>C (p.Lys4127Asn)
c.12243A>C (p.Lys4081Asn)
c.12090A>C (p.Lys4030Asn)
Xg.53537583T>ACA413154881HUWE1c.11894A>T (p.Lys3965Ile)
c.12110A>T (p.Lys4037Ile)
c.2577A>T
n.245A>T
c.12083A>T (p.Lys4028Ile)
c.12359A>T (p.Lys4120Ile)
c.12356A>T (p.Lys4119Ile)
c.12314A>T (p.Lys4105Ile)
c.12311A>T (p.Lys4104Ile)
c.12308A>T (p.Lys4103Ile)
c.12260A>T (p.Lys4087Ile)
c.11957A>T (p.Lys3986Ile)
c.12491A>T (p.Lys4164Ile)
c.12488A>T (p.Lys4163Ile)
c.12470A>T (p.Lys4157Ile)
c.12446A>T (p.Lys4149Ile)
c.12443A>T (p.Lys4148Ile)
c.12440A>T (p.Lys4147Ile)
c.12392A>T (p.Lys4131Ile)
c.12380A>T (p.Lys4127Ile)
c.12242A>T (p.Lys4081Ile)
c.12089A>T (p.Lys4030Ile)
Xg.53537583T>CCA413154876HUWE1c.11894A>G (p.Lys3965Arg)
c.12110A>G (p.Lys4037Arg)
c.2577A>G
n.245A>G
c.12083A>G (p.Lys4028Arg)
c.12359A>G (p.Lys4120Arg)
c.12356A>G (p.Lys4119Arg)
c.12314A>G (p.Lys4105Arg)
c.12311A>G (p.Lys4104Arg)
c.12308A>G (p.Lys4103Arg)
c.12260A>G (p.Lys4087Arg)
c.11957A>G (p.Lys3986Arg)
c.12491A>G (p.Lys4164Arg)
c.12488A>G (p.Lys4163Arg)
c.12470A>G (p.Lys4157Arg)
c.12446A>G (p.Lys4149Arg)
c.12443A>G (p.Lys4148Arg)
c.12440A>G (p.Lys4147Arg)
c.12392A>G (p.Lys4131Arg)
c.12380A>G (p.Lys4127Arg)
c.12242A>G (p.Lys4081Arg)
c.12089A>G (p.Lys4030Arg)
 gnomAD v4
Xg.53537583T>GCA413154877HUWE1c.11894A>C (p.Lys3965Thr)
c.12110A>C (p.Lys4037Thr)
c.2577A>C
n.245A>C
c.12083A>C (p.Lys4028Thr)
c.12359A>C (p.Lys4120Thr)
c.12356A>C (p.Lys4119Thr)
c.12314A>C (p.Lys4105Thr)
c.12311A>C (p.Lys4104Thr)
c.12308A>C (p.Lys4103Thr)
c.12260A>C (p.Lys4087Thr)
c.11957A>C (p.Lys3986Thr)
c.12491A>C (p.Lys4164Thr)
c.12488A>C (p.Lys4163Thr)
c.12470A>C (p.Lys4157Thr)
c.12446A>C (p.Lys4149Thr)
c.12443A>C (p.Lys4148Thr)
c.12440A>C (p.Lys4147Thr)
c.12392A>C (p.Lys4131Thr)
c.12380A>C (p.Lys4127Thr)
c.12242A>C (p.Lys4081Thr)
c.12089A>C (p.Lys4030Thr)
Xg.53537584T>ACA413154893HUWE1c.11893A>T (p.Lys3965Ter)
c.12109A>T (p.Lys4037Ter)
c.2576A>T
n.244A>T
c.12082A>T (p.Lys4028Ter)
c.12358A>T (p.Lys4120Ter)
c.12355A>T (p.Lys4119Ter)
c.12313A>T (p.Lys4105Ter)
c.12310A>T (p.Lys4104Ter)
c.12307A>T (p.Lys4103Ter)
c.12259A>T (p.Lys4087Ter)
c.11956A>T (p.Lys3986Ter)
c.12490A>T (p.Lys4164Ter)
c.12487A>T (p.Lys4163Ter)
c.12469A>T (p.Lys4157Ter)
c.12445A>T (p.Lys4149Ter)
c.12442A>T (p.Lys4148Ter)
c.12439A>T (p.Lys4147Ter)
c.12391A>T (p.Lys4131Ter)
c.12379A>T (p.Lys4127Ter)
c.12241A>T (p.Lys4081Ter)
c.12088A>T (p.Lys4030Ter)
Xg.53537584T>CCA413154899HUWE1c.11893A>G (p.Lys3965Glu)
c.12109A>G (p.Lys4037Glu)
c.2576A>G
n.244A>G
c.12082A>G (p.Lys4028Glu)
c.12358A>G (p.Lys4120Glu)
c.12355A>G (p.Lys4119Glu)
c.12313A>G (p.Lys4105Glu)
c.12310A>G (p.Lys4104Glu)
c.12307A>G (p.Lys4103Glu)
c.12259A>G (p.Lys4087Glu)
c.11956A>G (p.Lys3986Glu)
c.12490A>G (p.Lys4164Glu)
c.12487A>G (p.Lys4163Glu)
c.12469A>G (p.Lys4157Glu)
c.12445A>G (p.Lys4149Glu)
c.12442A>G (p.Lys4148Glu)
c.12439A>G (p.Lys4147Glu)
c.12391A>G (p.Lys4131Glu)
c.12379A>G (p.Lys4127Glu)
c.12241A>G (p.Lys4081Glu)
c.12088A>G (p.Lys4030Glu)
Xg.53537584T>GCA413154904HUWE1c.11893A>C (p.Lys3965Gln)
c.12109A>C (p.Lys4037Gln)
c.2576A>C
n.244A>C
c.12082A>C (p.Lys4028Gln)
c.12358A>C (p.Lys4120Gln)
c.12355A>C (p.Lys4119Gln)
c.12313A>C (p.Lys4105Gln)
c.12310A>C (p.Lys4104Gln)
c.12307A>C (p.Lys4103Gln)
c.12259A>C (p.Lys4087Gln)
c.11956A>C (p.Lys3986Gln)
c.12490A>C (p.Lys4164Gln)
c.12487A>C (p.Lys4163Gln)
c.12469A>C (p.Lys4157Gln)
c.12445A>C (p.Lys4149Gln)
c.12442A>C (p.Lys4148Gln)
c.12439A>C (p.Lys4147Gln)
c.12391A>C (p.Lys4131Gln)
c.12379A>C (p.Lys4127Gln)
c.12241A>C (p.Lys4081Gln)
c.12088A>C (p.Lys4030Gln)
Xg.53537584T=CA2429870455HUWE1c.11893A= (p.Lys3965=)
c.12109A= (p.Lys4037=)
c.2576A=
n.244A=
c.12082A= (p.Lys4028=)
c.12358A= (p.Lys4120=)
c.12355A= (p.Lys4119=)
c.12313A= (p.Lys4105=)
c.12310A= (p.Lys4104=)
c.12307A= (p.Lys4103=)
c.12259A= (p.Lys4087=)
c.11956A= (p.Lys3986=)
c.12490A= (p.Lys4164=)
c.12487A= (p.Lys4163=)
c.12469A= (p.Lys4157=)
c.12445A= (p.Lys4149=)
c.12442A= (p.Lys4148=)
c.12439A= (p.Lys4147=)
c.12391A= (p.Lys4131=)
c.12379A= (p.Lys4127=)
c.12241A= (p.Lys4081=)
c.12088A= (p.Lys4030=)
Xg.53537585G>ACA516423652HUWE1c.11892C>T (p.Arg3964=)
c.12108C>T (p.Arg4036=)
c.2575C>T
n.243C>T
c.12081C>T (p.Arg4027=)
c.12357C>T (p.Arg4119=)
c.12354C>T (p.Arg4118=)
c.12312C>T (p.Arg4104=)
c.12309C>T (p.Arg4103=)
c.12306C>T (p.Arg4102=)
c.12258C>T (p.Arg4086=)
c.11955C>T (p.Arg3985=)
c.12489C>T (p.Arg4163=)
c.12486C>T (p.Arg4162=)
c.12468C>T (p.Arg4156=)
c.12444C>T (p.Arg4148=)
c.12441C>T (p.Arg4147=)
c.12438C>T (p.Arg4146=)
c.12390C>T (p.Arg4130=)
c.12378C>T (p.Arg4126=)
c.12240C>T (p.Arg4080=)
c.12087C>T (p.Arg4029=)
 gnomAD v4
Xg.53537585G>CCA516423656HUWE1c.11892C>G (p.Arg3964=)
c.12108C>G (p.Arg4036=)
c.2575C>G
n.243C>G
c.12081C>G (p.Arg4027=)
c.12357C>G (p.Arg4119=)
c.12354C>G (p.Arg4118=)
c.12312C>G (p.Arg4104=)
c.12309C>G (p.Arg4103=)
c.12306C>G (p.Arg4102=)
c.12258C>G (p.Arg4086=)
c.11955C>G (p.Arg3985=)
c.12489C>G (p.Arg4163=)
c.12486C>G (p.Arg4162=)
c.12468C>G (p.Arg4156=)
c.12444C>G (p.Arg4148=)
c.12441C>G (p.Arg4147=)
c.12438C>G (p.Arg4146=)
c.12390C>G (p.Arg4130=)
c.12378C>G (p.Arg4126=)
c.12240C>G (p.Arg4080=)
c.12087C>G (p.Arg4029=)
 dbSNP
Xg.53537585G>TCA516423654HUWE1c.11892C>A (p.Arg3964=)
c.12108C>A (p.Arg4036=)
c.2575C>A
n.243C>A
c.12081C>A (p.Arg4027=)
c.12357C>A (p.Arg4119=)
c.12354C>A (p.Arg4118=)
c.12312C>A (p.Arg4104=)
c.12309C>A (p.Arg4103=)
c.12306C>A (p.Arg4102=)
c.12258C>A (p.Arg4086=)
c.11955C>A (p.Arg3985=)
c.12489C>A (p.Arg4163=)
c.12486C>A (p.Arg4162=)
c.12468C>A (p.Arg4156=)
c.12444C>A (p.Arg4148=)
c.12441C>A (p.Arg4147=)
c.12438C>A (p.Arg4146=)
c.12390C>A (p.Arg4130=)
c.12378C>A (p.Arg4126=)
c.12240C>A (p.Arg4080=)
c.12087C>A (p.Arg4029=)
Xg.53537585dupCA920412911HUWE1c.11892dup (p.Lys3965GlnfsTer15)
c.12108dup (p.Lys4037GlnfsTer15)
c.2575dup
n.243dup
c.12081dup (p.Lys4028GlnfsTer15)
c.12357dup (p.Lys4120GlnfsTer15)
c.12354dup (p.Lys4119GlnfsTer15)
c.12312dup (p.Lys4105GlnfsTer15)
c.12309dup (p.Lys4104GlnfsTer15)
c.12306dup (p.Lys4103GlnfsTer15)
c.12258dup (p.Lys4087GlnfsTer15)
c.11955dup (p.Lys3986GlnfsTer15)
c.12489dup (p.Lys4164GlnfsTer15)
c.12486dup (p.Lys4163GlnfsTer15)
c.12468dup (p.Lys4157GlnfsTer15)
c.12444dup (p.Lys4149GlnfsTer15)
c.12441dup (p.Lys4148GlnfsTer15)
c.12438dup (p.Lys4147GlnfsTer15)
c.12390dup (p.Lys4131GlnfsTer15)
c.12378dup (p.Lys4127GlnfsTer15)
c.12240dup (p.Lys4081GlnfsTer15)
c.12087dup (p.Lys4030GlnfsTer15)
 dbSNP
Xg.53537586C>ACA413154909HUWE1c.11891G>T (p.Arg3964Leu)
c.12107G>T (p.Arg4036Leu)
c.2574G>T
n.242G>T
c.12080G>T (p.Arg4027Leu)
c.12356G>T (p.Arg4119Leu)
c.12353G>T (p.Arg4118Leu)
c.12311G>T (p.Arg4104Leu)
c.12308G>T (p.Arg4103Leu)
c.12305G>T (p.Arg4102Leu)
c.12257G>T (p.Arg4086Leu)
c.11954G>T (p.Arg3985Leu)
c.12488G>T (p.Arg4163Leu)
c.12485G>T (p.Arg4162Leu)
c.12467G>T (p.Arg4156Leu)
c.12443G>T (p.Arg4148Leu)
c.12440G>T (p.Arg4147Leu)
c.12437G>T (p.Arg4146Leu)
c.12389G>T (p.Arg4130Leu)
c.12377G>T (p.Arg4126Leu)
c.12239G>T (p.Arg4080Leu)
c.12086G>T (p.Arg4029Leu)
Xg.53537586C>GCA413154912HUWE1c.11891G>C (p.Arg3964Pro)
c.12107G>C (p.Arg4036Pro)
c.2574G>C
n.242G>C
c.12080G>C (p.Arg4027Pro)
c.12356G>C (p.Arg4119Pro)
c.12353G>C (p.Arg4118Pro)
c.12311G>C (p.Arg4104Pro)
c.12308G>C (p.Arg4103Pro)
c.12305G>C (p.Arg4102Pro)
c.12257G>C (p.Arg4086Pro)
c.11954G>C (p.Arg3985Pro)
c.12488G>C (p.Arg4163Pro)
c.12485G>C (p.Arg4162Pro)
c.12467G>C (p.Arg4156Pro)
c.12443G>C (p.Arg4148Pro)
c.12440G>C (p.Arg4147Pro)
c.12437G>C (p.Arg4146Pro)
c.12389G>C (p.Arg4130Pro)
c.12377G>C (p.Arg4126Pro)
c.12239G>C (p.Arg4080Pro)
c.12086G>C (p.Arg4029Pro)
Xg.53537586C>TCA413154921HUWE1c.11891G>A (p.Arg3964His)
c.12107G>A (p.Arg4036His)
c.2574G>A
n.242G>A
c.12080G>A (p.Arg4027His)
c.12356G>A (p.Arg4119His)
c.12353G>A (p.Arg4118His)
c.12311G>A (p.Arg4104His)
c.12308G>A (p.Arg4103His)
c.12305G>A (p.Arg4102His)
c.12257G>A (p.Arg4086His)
c.11954G>A (p.Arg3985His)
c.12488G>A (p.Arg4163His)
c.12485G>A (p.Arg4162His)
c.12467G>A (p.Arg4156His)
c.12443G>A (p.Arg4148His)
c.12440G>A (p.Arg4147His)
c.12437G>A (p.Arg4146His)
c.12389G>A (p.Arg4130His)
c.12377G>A (p.Arg4126His)
c.12239G>A (p.Arg4080His)
c.12086G>A (p.Arg4029His)
Xg.53537587G>ACA413154926HUWE1c.11890C>T (p.Arg3964Cys)
c.12106C>T (p.Arg4036Cys)
c.2573C>T
n.241C>T
c.12079C>T (p.Arg4027Cys)
c.12355C>T (p.Arg4119Cys)
c.12352C>T (p.Arg4118Cys)
c.12310C>T (p.Arg4104Cys)
c.12307C>T (p.Arg4103Cys)
c.12304C>T (p.Arg4102Cys)
c.12256C>T (p.Arg4086Cys)
c.11953C>T (p.Arg3985Cys)
c.12487C>T (p.Arg4163Cys)
c.12484C>T (p.Arg4162Cys)
c.12466C>T (p.Arg4156Cys)
c.12442C>T (p.Arg4148Cys)
c.12439C>T (p.Arg4147Cys)
c.12436C>T (p.Arg4146Cys)
c.12388C>T (p.Arg4130Cys)
c.12376C>T (p.Arg4126Cys)
c.12238C>T (p.Arg4080Cys)
c.12085C>T (p.Arg4029Cys)
Xg.53537587G>CCA413154927HUWE1c.11890C>G (p.Arg3964Gly)
c.12106C>G (p.Arg4036Gly)
c.2573C>G
n.241C>G
c.12079C>G (p.Arg4027Gly)
c.12355C>G (p.Arg4119Gly)
c.12352C>G (p.Arg4118Gly)
c.12310C>G (p.Arg4104Gly)
c.12307C>G (p.Arg4103Gly)
c.12304C>G (p.Arg4102Gly)
c.12256C>G (p.Arg4086Gly)
c.11953C>G (p.Arg3985Gly)
c.12487C>G (p.Arg4163Gly)
c.12484C>G (p.Arg4162Gly)
c.12466C>G (p.Arg4156Gly)
c.12442C>G (p.Arg4148Gly)
c.12439C>G (p.Arg4147Gly)
c.12436C>G (p.Arg4146Gly)
c.12388C>G (p.Arg4130Gly)
c.12376C>G (p.Arg4126Gly)
c.12238C>G (p.Arg4080Gly)
c.12085C>G (p.Arg4029Gly)
Xg.53537587G>TCA413154930HUWE1c.11890C>A (p.Arg3964Ser)
c.12106C>A (p.Arg4036Ser)
c.2573C>A
n.241C>A
c.12079C>A (p.Arg4027Ser)
c.12355C>A (p.Arg4119Ser)
c.12352C>A (p.Arg4118Ser)
c.12310C>A (p.Arg4104Ser)
c.12307C>A (p.Arg4103Ser)
c.12304C>A (p.Arg4102Ser)
c.12256C>A (p.Arg4086Ser)
c.11953C>A (p.Arg3985Ser)
c.12487C>A (p.Arg4163Ser)
c.12484C>A (p.Arg4162Ser)
c.12466C>A (p.Arg4156Ser)
c.12442C>A (p.Arg4148Ser)
c.12439C>A (p.Arg4147Ser)
c.12436C>A (p.Arg4146Ser)
c.12388C>A (p.Arg4130Ser)
c.12376C>A (p.Arg4126Ser)
c.12238C>A (p.Arg4080Ser)
c.12085C>A (p.Arg4029Ser)
Xg.53537588A>CCA413154936HUWE1c.11889T>G (p.His3963Gln)
c.12105T>G (p.His4035Gln)
c.2572T>G
n.240T>G
c.12078T>G (p.His4026Gln)
c.12354T>G (p.His4118Gln)
c.12351T>G (p.His4117Gln)
c.12309T>G (p.His4103Gln)
c.12306T>G (p.His4102Gln)
c.12303T>G (p.His4101Gln)
c.12255T>G (p.His4085Gln)
c.11952T>G (p.His3984Gln)
c.12486T>G (p.His4162Gln)
c.12483T>G (p.His4161Gln)
c.12465T>G (p.His4155Gln)
c.12441T>G (p.His4147Gln)
c.12438T>G (p.His4146Gln)
c.12435T>G (p.His4145Gln)
c.12387T>G (p.His4129Gln)
c.12375T>G (p.His4125Gln)
c.12237T>G (p.His4079Gln)
c.12084T>G (p.His4028Gln)
Xg.53537588A>GCA516423670HUWE1c.11889T>C (p.His3963=)
c.12105T>C (p.His4035=)
c.2572T>C
n.240T>C
c.12078T>C (p.His4026=)
c.12354T>C (p.His4118=)
c.12351T>C (p.His4117=)
c.12309T>C (p.His4103=)
c.12306T>C (p.His4102=)
c.12303T>C (p.His4101=)
c.12255T>C (p.His4085=)
c.11952T>C (p.His3984=)
c.12486T>C (p.His4162=)
c.12483T>C (p.His4161=)
c.12465T>C (p.His4155=)
c.12441T>C (p.His4147=)
c.12438T>C (p.His4146=)
c.12435T>C (p.His4145=)
c.12387T>C (p.His4129=)
c.12375T>C (p.His4125=)
c.12237T>C (p.His4079=)
c.12084T>C (p.His4028=)
Xg.53537588A>TCA413154940HUWE1c.11889T>A (p.His3963Gln)
c.12105T>A (p.His4035Gln)
c.2572T>A
n.240T>A
c.12078T>A (p.His4026Gln)
c.12354T>A (p.His4118Gln)
c.12351T>A (p.His4117Gln)
c.12309T>A (p.His4103Gln)
c.12306T>A (p.His4102Gln)
c.12303T>A (p.His4101Gln)
c.12255T>A (p.His4085Gln)
c.11952T>A (p.His3984Gln)
c.12486T>A (p.His4162Gln)
c.12483T>A (p.His4161Gln)
c.12465T>A (p.His4155Gln)
c.12441T>A (p.His4147Gln)
c.12438T>A (p.His4146Gln)
c.12435T>A (p.His4145Gln)
c.12387T>A (p.His4129Gln)
c.12375T>A (p.His4125Gln)
c.12237T>A (p.His4079Gln)
c.12084T>A (p.His4028Gln)
Xg.53537589T>ACA413154966HUWE1c.11888A>T (p.His3963Leu)
c.12104A>T (p.His4035Leu)
c.2571A>T
n.239A>T
c.12077A>T (p.His4026Leu)
c.12353A>T (p.His4118Leu)
c.12350A>T (p.His4117Leu)
c.12308A>T (p.His4103Leu)
c.12305A>T (p.His4102Leu)
c.12302A>T (p.His4101Leu)
c.12254A>T (p.His4085Leu)
c.11951A>T (p.His3984Leu)
c.12485A>T (p.His4162Leu)
c.12482A>T (p.His4161Leu)
c.12464A>T (p.His4155Leu)
c.12440A>T (p.His4147Leu)
c.12437A>T (p.His4146Leu)
c.12434A>T (p.His4145Leu)
c.12386A>T (p.His4129Leu)
c.12374A>T (p.His4125Leu)
c.12236A>T (p.His4079Leu)
c.12083A>T (p.His4028Leu)
Xg.53537589T>CCA413154959HUWE1c.11888A>G (p.His3963Arg)
c.12104A>G (p.His4035Arg)
c.2571A>G
n.239A>G
c.12077A>G (p.His4026Arg)
c.12353A>G (p.His4118Arg)
c.12350A>G (p.His4117Arg)
c.12308A>G (p.His4103Arg)
c.12305A>G (p.His4102Arg)
c.12302A>G (p.His4101Arg)
c.12254A>G (p.His4085Arg)
c.11951A>G (p.His3984Arg)
c.12485A>G (p.His4162Arg)
c.12482A>G (p.His4161Arg)
c.12464A>G (p.His4155Arg)
c.12440A>G (p.His4147Arg)
c.12437A>G (p.His4146Arg)
c.12434A>G (p.His4145Arg)
c.12386A>G (p.His4129Arg)
c.12374A>G (p.His4125Arg)
c.12236A>G (p.His4079Arg)
c.12083A>G (p.His4028Arg)
Xg.53537589T>GCA413154944HUWE1c.11888A>C (p.His3963Pro)
c.12104A>C (p.His4035Pro)
c.2571A>C
n.239A>C
c.12077A>C (p.His4026Pro)
c.12353A>C (p.His4118Pro)
c.12350A>C (p.His4117Pro)
c.12308A>C (p.His4103Pro)
c.12305A>C (p.His4102Pro)
c.12302A>C (p.His4101Pro)
c.12254A>C (p.His4085Pro)
c.11951A>C (p.His3984Pro)
c.12485A>C (p.His4162Pro)
c.12482A>C (p.His4161Pro)
c.12464A>C (p.His4155Pro)
c.12440A>C (p.His4147Pro)
c.12437A>C (p.His4146Pro)
c.12434A>C (p.His4145Pro)
c.12386A>C (p.His4129Pro)
c.12374A>C (p.His4125Pro)
c.12236A>C (p.His4079Pro)
c.12083A>C (p.His4028Pro)
Xg.53537590G>ACA413154970HUWE1c.11887C>T (p.His3963Tyr)
c.12103C>T (p.His4035Tyr)
c.2570C>T
n.238C>T
c.12076C>T (p.His4026Tyr)
c.12352C>T (p.His4118Tyr)
c.12349C>T (p.His4117Tyr)
c.12307C>T (p.His4103Tyr)
c.12304C>T (p.His4102Tyr)
c.12301C>T (p.His4101Tyr)
c.12253C>T (p.His4085Tyr)
c.11950C>T (p.His3984Tyr)
c.12484C>T (p.His4162Tyr)
c.12481C>T (p.His4161Tyr)
c.12463C>T (p.His4155Tyr)
c.12439C>T (p.His4147Tyr)
c.12436C>T (p.His4146Tyr)
c.12433C>T (p.His4145Tyr)
c.12385C>T (p.His4129Tyr)
c.12373C>T (p.His4125Tyr)
c.12235C>T (p.His4079Tyr)
c.12082C>T (p.His4028Tyr)
Xg.53537590G>CCA413154977HUWE1c.11887C>G (p.His3963Asp)
c.12103C>G (p.His4035Asp)
c.2570C>G
n.238C>G
c.12076C>G (p.His4026Asp)
c.12352C>G (p.His4118Asp)
c.12349C>G (p.His4117Asp)
c.12307C>G (p.His4103Asp)
c.12304C>G (p.His4102Asp)
c.12301C>G (p.His4101Asp)
c.12253C>G (p.His4085Asp)
c.11950C>G (p.His3984Asp)
c.12484C>G (p.His4162Asp)
c.12481C>G (p.His4161Asp)
c.12463C>G (p.His4155Asp)
c.12439C>G (p.His4147Asp)
c.12436C>G (p.His4146Asp)
c.12433C>G (p.His4145Asp)
c.12385C>G (p.His4129Asp)
c.12373C>G (p.His4125Asp)
c.12235C>G (p.His4079Asp)
c.12082C>G (p.His4028Asp)
Xg.53537590G>TCA413154973HUWE1c.11887C>A (p.His3963Asn)
c.12103C>A (p.His4035Asn)
c.2570C>A
n.238C>A
c.12076C>A (p.His4026Asn)
c.12352C>A (p.His4118Asn)
c.12349C>A (p.His4117Asn)
c.12307C>A (p.His4103Asn)
c.12304C>A (p.His4102Asn)
c.12301C>A (p.His4101Asn)
c.12253C>A (p.His4085Asn)
c.11950C>A (p.His3984Asn)
c.12484C>A (p.His4162Asn)
c.12481C>A (p.His4161Asn)
c.12463C>A (p.His4155Asn)
c.12439C>A (p.His4147Asn)
c.12436C>A (p.His4146Asn)
c.12433C>A (p.His4145Asn)
c.12385C>A (p.His4129Asn)
c.12373C>A (p.His4125Asn)
c.12235C>A (p.His4079Asn)
c.12082C>A (p.His4028Asn)
Xg.53537591C>ACA516423678HUWE1c.11886G>T (p.Leu3962=)
c.12102G>T (p.Leu4034=)
c.2569G>T
n.237G>T
c.12075G>T (p.Leu4025=)
c.12351G>T (p.Leu4117=)
c.12348G>T (p.Leu4116=)
c.12306G>T (p.Leu4102=)
c.12303G>T (p.Leu4101=)
c.12300G>T (p.Leu4100=)
c.12252G>T (p.Leu4084=)
c.11949G>T (p.Leu3983=)
c.12483G>T (p.Leu4161=)
c.12480G>T (p.Leu4160=)
c.12462G>T (p.Leu4154=)
c.12438G>T (p.Leu4146=)
c.12435G>T (p.Leu4145=)
c.12432G>T (p.Leu4144=)
c.12384G>T (p.Leu4128=)
c.12372G>T (p.Leu4124=)
c.12234G>T (p.Leu4078=)
c.12081G>T (p.Leu4027=)
Xg.53537591C=CA2429870456HUWE1c.11886G= (p.Leu3962=)
c.12102G= (p.Leu4034=)
c.2569G=
n.237G=
c.12075G= (p.Leu4025=)
c.12351G= (p.Leu4117=)
c.12348G= (p.Leu4116=)
c.12306G= (p.Leu4102=)
c.12303G= (p.Leu4101=)
c.12300G= (p.Leu4100=)
c.12252G= (p.Leu4084=)
c.11949G= (p.Leu3983=)
c.12483G= (p.Leu4161=)
c.12480G= (p.Leu4160=)
c.12462G= (p.Leu4154=)
c.12438G= (p.Leu4146=)
c.12435G= (p.Leu4145=)
c.12432G= (p.Leu4144=)
c.12384G= (p.Leu4128=)
c.12372G= (p.Leu4124=)
c.12234G= (p.Leu4078=)
c.12081G= (p.Leu4027=)
Xg.53537591C>GCA516423679HUWE1c.11886G>C (p.Leu3962=)
c.12102G>C (p.Leu4034=)
c.2569G>C
n.237G>C
c.12075G>C (p.Leu4025=)
c.12351G>C (p.Leu4117=)
c.12348G>C (p.Leu4116=)
c.12306G>C (p.Leu4102=)
c.12303G>C (p.Leu4101=)
c.12300G>C (p.Leu4100=)
c.12252G>C (p.Leu4084=)
c.11949G>C (p.Leu3983=)
c.12483G>C (p.Leu4161=)
c.12480G>C (p.Leu4160=)
c.12462G>C (p.Leu4154=)
c.12438G>C (p.Leu4146=)
c.12435G>C (p.Leu4145=)
c.12432G>C (p.Leu4144=)
c.12384G>C (p.Leu4128=)
c.12372G>C (p.Leu4124=)
c.12234G>C (p.Leu4078=)
c.12081G>C (p.Leu4027=)
Xg.53537591C>TCA10421280HUWE1c.11886G>A (p.Leu3962=)
c.12102G>A (p.Leu4034=)
c.2569G>A
n.237G>A
c.12075G>A (p.Leu4025=)
c.12351G>A (p.Leu4117=)
c.12348G>A (p.Leu4116=)
c.12306G>A (p.Leu4102=)
c.12303G>A (p.Leu4101=)
c.12300G>A (p.Leu4100=)
c.12252G>A (p.Leu4084=)
c.11949G>A (p.Leu3983=)
c.12483G>A (p.Leu4161=)
c.12480G>A (p.Leu4160=)
c.12462G>A (p.Leu4154=)
c.12438G>A (p.Leu4146=)
c.12435G>A (p.Leu4145=)
c.12432G>A (p.Leu4144=)
c.12384G>A (p.Leu4128=)
c.12372G>A (p.Leu4124=)
c.12234G>A (p.Leu4078=)
c.12081G>A (p.Leu4027=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53537592A>CCA413154985HUWE1c.11885T>G (p.Leu3962Arg)
c.12101T>G (p.Leu4034Arg)
c.2568T>G
n.236T>G
c.12074T>G (p.Leu4025Arg)
c.12350T>G (p.Leu4117Arg)
c.12347T>G (p.Leu4116Arg)
c.12305T>G (p.Leu4102Arg)
c.12302T>G (p.Leu4101Arg)
c.12299T>G (p.Leu4100Arg)
c.12251T>G (p.Leu4084Arg)
c.11948T>G (p.Leu3983Arg)
c.12482T>G (p.Leu4161Arg)
c.12479T>G (p.Leu4160Arg)
c.12461T>G (p.Leu4154Arg)
c.12437T>G (p.Leu4146Arg)
c.12434T>G (p.Leu4145Arg)
c.12431T>G (p.Leu4144Arg)
c.12383T>G (p.Leu4128Arg)
c.12371T>G (p.Leu4124Arg)
c.12233T>G (p.Leu4078Arg)
c.12080T>G (p.Leu4027Arg)
Xg.53537592A>GCA413154989HUWE1c.11885T>C (p.Leu3962Pro)
c.12101T>C (p.Leu4034Pro)
c.2568T>C
n.236T>C
c.12074T>C (p.Leu4025Pro)
c.12350T>C (p.Leu4117Pro)
c.12347T>C (p.Leu4116Pro)
c.12305T>C (p.Leu4102Pro)
c.12302T>C (p.Leu4101Pro)
c.12299T>C (p.Leu4100Pro)
c.12251T>C (p.Leu4084Pro)
c.11948T>C (p.Leu3983Pro)
c.12482T>C (p.Leu4161Pro)
c.12479T>C (p.Leu4160Pro)
c.12461T>C (p.Leu4154Pro)
c.12437T>C (p.Leu4146Pro)
c.12434T>C (p.Leu4145Pro)
c.12431T>C (p.Leu4144Pro)
c.12383T>C (p.Leu4128Pro)
c.12371T>C (p.Leu4124Pro)
c.12233T>C (p.Leu4078Pro)
c.12080T>C (p.Leu4027Pro)
Xg.53537592A>TCA413155000HUWE1c.11885T>A (p.Leu3962Gln)
c.12101T>A (p.Leu4034Gln)
c.2568T>A
n.236T>A
c.12074T>A (p.Leu4025Gln)
c.12350T>A (p.Leu4117Gln)
c.12347T>A (p.Leu4116Gln)
c.12305T>A (p.Leu4102Gln)
c.12302T>A (p.Leu4101Gln)
c.12299T>A (p.Leu4100Gln)
c.12251T>A (p.Leu4084Gln)
c.11948T>A (p.Leu3983Gln)
c.12482T>A (p.Leu4161Gln)
c.12479T>A (p.Leu4160Gln)
c.12461T>A (p.Leu4154Gln)
c.12437T>A (p.Leu4146Gln)
c.12434T>A (p.Leu4145Gln)
c.12431T>A (p.Leu4144Gln)
c.12383T>A (p.Leu4128Gln)
c.12371T>A (p.Leu4124Gln)
c.12233T>A (p.Leu4078Gln)
c.12080T>A (p.Leu4027Gln)
Xg.53537593G>ACA516423685HUWE1c.11884C>T (p.Leu3962=)
c.12100C>T (p.Leu4034=)
c.2567C>T
n.235C>T
c.12073C>T (p.Leu4025=)
c.12349C>T (p.Leu4117=)
c.12346C>T (p.Leu4116=)
c.12304C>T (p.Leu4102=)
c.12301C>T (p.Leu4101=)
c.12298C>T (p.Leu4100=)
c.12250C>T (p.Leu4084=)
c.11947C>T (p.Leu3983=)
c.12481C>T (p.Leu4161=)
c.12478C>T (p.Leu4160=)
c.12460C>T (p.Leu4154=)
c.12436C>T (p.Leu4146=)
c.12433C>T (p.Leu4145=)
c.12430C>T (p.Leu4144=)
c.12382C>T (p.Leu4128=)
c.12370C>T (p.Leu4124=)
c.12232C>T (p.Leu4078=)
c.12079C>T (p.Leu4027=)
 COSMIC COSMIC
Xg.53537593G>CCA413155017HUWE1c.11884C>G (p.Leu3962Val)
c.12100C>G (p.Leu4034Val)
c.2567C>G
n.235C>G
c.12073C>G (p.Leu4025Val)
c.12349C>G (p.Leu4117Val)
c.12346C>G (p.Leu4116Val)
c.12304C>G (p.Leu4102Val)
c.12301C>G (p.Leu4101Val)
c.12298C>G (p.Leu4100Val)
c.12250C>G (p.Leu4084Val)
c.11947C>G (p.Leu3983Val)
c.12481C>G (p.Leu4161Val)
c.12478C>G (p.Leu4160Val)
c.12460C>G (p.Leu4154Val)
c.12436C>G (p.Leu4146Val)
c.12433C>G (p.Leu4145Val)
c.12430C>G (p.Leu4144Val)
c.12382C>G (p.Leu4128Val)
c.12370C>G (p.Leu4124Val)
c.12232C>G (p.Leu4078Val)
c.12079C>G (p.Leu4027Val)
Xg.53537593G>TCA413155022HUWE1c.11884C>A (p.Leu3962Met)
c.12100C>A (p.Leu4034Met)
c.2567C>A
n.235C>A
c.12073C>A (p.Leu4025Met)
c.12349C>A (p.Leu4117Met)
c.12346C>A (p.Leu4116Met)
c.12304C>A (p.Leu4102Met)
c.12301C>A (p.Leu4101Met)
c.12298C>A (p.Leu4100Met)
c.12250C>A (p.Leu4084Met)
c.11947C>A (p.Leu3983Met)
c.12481C>A (p.Leu4161Met)
c.12478C>A (p.Leu4160Met)
c.12460C>A (p.Leu4154Met)
c.12436C>A (p.Leu4146Met)
c.12433C>A (p.Leu4145Met)
c.12430C>A (p.Leu4144Met)
c.12382C>A (p.Leu4128Met)
c.12370C>A (p.Leu4124Met)
c.12232C>A (p.Leu4078Met)
c.12079C>A (p.Leu4027Met)
Xg.53537594C>ACA413155026HUWE1c.11883G>T (p.Glu3961Asp)
c.12099G>T (p.Glu4033Asp)
c.2566G>T
n.234G>T
c.12072G>T (p.Glu4024Asp)
c.12348G>T (p.Glu4116Asp)
c.12345G>T (p.Glu4115Asp)
c.12303G>T (p.Glu4101Asp)
c.12300G>T (p.Glu4100Asp)
c.12297G>T (p.Glu4099Asp)
c.12249G>T (p.Glu4083Asp)
c.11946G>T (p.Glu3982Asp)
c.12480G>T (p.Glu4160Asp)
c.12477G>T (p.Glu4159Asp)
c.12459G>T (p.Glu4153Asp)
c.12435G>T (p.Glu4145Asp)
c.12432G>T (p.Glu4144Asp)
c.12429G>T (p.Glu4143Asp)
c.12381G>T (p.Glu4127Asp)
c.12369G>T (p.Glu4123Asp)
c.12231G>T (p.Glu4077Asp)
c.12078G>T (p.Glu4026Asp)
Xg.53537594C>GCA413155032HUWE1c.11883G>C (p.Glu3961Asp)
c.12099G>C (p.Glu4033Asp)
c.2566G>C
n.234G>C
c.12072G>C (p.Glu4024Asp)
c.12348G>C (p.Glu4116Asp)
c.12345G>C (p.Glu4115Asp)
c.12303G>C (p.Glu4101Asp)
c.12300G>C (p.Glu4100Asp)
c.12297G>C (p.Glu4099Asp)
c.12249G>C (p.Glu4083Asp)
c.11946G>C (p.Glu3982Asp)
c.12480G>C (p.Glu4160Asp)
c.12477G>C (p.Glu4159Asp)
c.12459G>C (p.Glu4153Asp)
c.12435G>C (p.Glu4145Asp)
c.12432G>C (p.Glu4144Asp)
c.12429G>C (p.Glu4143Asp)
c.12381G>C (p.Glu4127Asp)
c.12369G>C (p.Glu4123Asp)
c.12231G>C (p.Glu4077Asp)
c.12078G>C (p.Glu4026Asp)
Xg.53537594C>TCA516423694HUWE1c.11883G>A (p.Glu3961=)
c.12099G>A (p.Glu4033=)
c.2566G>A
n.234G>A
c.12072G>A (p.Glu4024=)
c.12348G>A (p.Glu4116=)
c.12345G>A (p.Glu4115=)
c.12303G>A (p.Glu4101=)
c.12300G>A (p.Glu4100=)
c.12297G>A (p.Glu4099=)
c.12249G>A (p.Glu4083=)
c.11946G>A (p.Glu3982=)
c.12480G>A (p.Glu4160=)
c.12477G>A (p.Glu4159=)
c.12459G>A (p.Glu4153=)
c.12435G>A (p.Glu4145=)
c.12432G>A (p.Glu4144=)
c.12429G>A (p.Glu4143=)
c.12381G>A (p.Glu4127=)
c.12369G>A (p.Glu4123=)
c.12231G>A (p.Glu4077=)
c.12078G>A (p.Glu4026=)
 dbSNP gnomAD v4
Xg.53537595T>ACA413155037HUWE1c.11882A>T (p.Glu3961Val)
c.12098A>T (p.Glu4033Val)
c.2565A>T
n.233A>T
c.12071A>T (p.Glu4024Val)
c.12347A>T (p.Glu4116Val)
c.12344A>T (p.Glu4115Val)
c.12302A>T (p.Glu4101Val)
c.12299A>T (p.Glu4100Val)
c.12296A>T (p.Glu4099Val)
c.12248A>T (p.Glu4083Val)
c.11945A>T (p.Glu3982Val)
c.12479A>T (p.Glu4160Val)
c.12476A>T (p.Glu4159Val)
c.12458A>T (p.Glu4153Val)
c.12434A>T (p.Glu4145Val)
c.12431A>T (p.Glu4144Val)
c.12428A>T (p.Glu4143Val)
c.12380A>T (p.Glu4127Val)
c.12368A>T (p.Glu4123Val)
c.12230A>T (p.Glu4077Val)
c.12077A>T (p.Glu4026Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.53537595T>CCA413155048HUWE1c.11882A>G (p.Glu3961Gly)
c.12098A>G (p.Glu4033Gly)
c.2565A>G
n.233A>G
c.12071A>G (p.Glu4024Gly)
c.12347A>G (p.Glu4116Gly)
c.12344A>G (p.Glu4115Gly)
c.12302A>G (p.Glu4101Gly)
c.12299A>G (p.Glu4100Gly)
c.12296A>G (p.Glu4099Gly)
c.12248A>G (p.Glu4083Gly)
c.11945A>G (p.Glu3982Gly)
c.12479A>G (p.Glu4160Gly)
c.12476A>G (p.Glu4159Gly)
c.12458A>G (p.Glu4153Gly)
c.12434A>G (p.Glu4145Gly)
c.12431A>G (p.Glu4144Gly)
c.12428A>G (p.Glu4143Gly)
c.12380A>G (p.Glu4127Gly)
c.12368A>G (p.Glu4123Gly)
c.12230A>G (p.Glu4077Gly)
c.12077A>G (p.Glu4026Gly)
Xg.53537595T>GCA413155052HUWE1c.11882A>C (p.Glu3961Ala)
c.12098A>C (p.Glu4033Ala)
c.2565A>C
n.233A>C
c.12071A>C (p.Glu4024Ala)
c.12347A>C (p.Glu4116Ala)
c.12344A>C (p.Glu4115Ala)
c.12302A>C (p.Glu4101Ala)
c.12299A>C (p.Glu4100Ala)
c.12296A>C (p.Glu4099Ala)
c.12248A>C (p.Glu4083Ala)
c.11945A>C (p.Glu3982Ala)
c.12479A>C (p.Glu4160Ala)
c.12476A>C (p.Glu4159Ala)
c.12458A>C (p.Glu4153Ala)
c.12434A>C (p.Glu4145Ala)
c.12431A>C (p.Glu4144Ala)
c.12428A>C (p.Glu4143Ala)
c.12380A>C (p.Glu4127Ala)
c.12368A>C (p.Glu4123Ala)
c.12230A>C (p.Glu4077Ala)
c.12077A>C (p.Glu4026Ala)
Xg.53537595T=CA2429870457HUWE1c.11882A= (p.Glu3961=)
c.12098A= (p.Glu4033=)
c.2565A=
n.233A=
c.12071A= (p.Glu4024=)
c.12347A= (p.Glu4116=)
c.12344A= (p.Glu4115=)
c.12302A= (p.Glu4101=)
c.12299A= (p.Glu4100=)
c.12296A= (p.Glu4099=)
c.12248A= (p.Glu4083=)
c.11945A= (p.Glu3982=)
c.12479A= (p.Glu4160=)
c.12476A= (p.Glu4159=)
c.12458A= (p.Glu4153=)
c.12434A= (p.Glu4145=)
c.12431A= (p.Glu4144=)
c.12428A= (p.Glu4143=)
c.12380A= (p.Glu4127=)
c.12368A= (p.Glu4123=)
c.12230A= (p.Glu4077=)
c.12077A= (p.Glu4026=)
Xg.53537596C>ACA413155068HUWE1c.11881G>T (p.Glu3961Ter)
c.12097G>T (p.Glu4033Ter)
c.2564G>T
n.232G>T
c.12070G>T (p.Glu4024Ter)
c.12346G>T (p.Glu4116Ter)
c.12343G>T (p.Glu4115Ter)
c.12301G>T (p.Glu4101Ter)
c.12298G>T (p.Glu4100Ter)
c.12295G>T (p.Glu4099Ter)
c.12247G>T (p.Glu4083Ter)
c.11944G>T (p.Glu3982Ter)
c.12478G>T (p.Glu4160Ter)
c.12475G>T (p.Glu4159Ter)
c.12457G>T (p.Glu4153Ter)
c.12433G>T (p.Glu4145Ter)
c.12430G>T (p.Glu4144Ter)
c.12427G>T (p.Glu4143Ter)
c.12379G>T (p.Glu4127Ter)
c.12367G>T (p.Glu4123Ter)
c.12229G>T (p.Glu4077Ter)
c.12076G>T (p.Glu4026Ter)
Xg.53537596C>GCA413155066HUWE1c.11881G>C (p.Glu3961Gln)
c.12097G>C (p.Glu4033Gln)
c.2564G>C
n.232G>C
c.12070G>C (p.Glu4024Gln)
c.12346G>C (p.Glu4116Gln)
c.12343G>C (p.Glu4115Gln)
c.12301G>C (p.Glu4101Gln)
c.12298G>C (p.Glu4100Gln)
c.12295G>C (p.Glu4099Gln)
c.12247G>C (p.Glu4083Gln)
c.11944G>C (p.Glu3982Gln)
c.12478G>C (p.Glu4160Gln)
c.12475G>C (p.Glu4159Gln)
c.12457G>C (p.Glu4153Gln)
c.12433G>C (p.Glu4145Gln)
c.12430G>C (p.Glu4144Gln)
c.12427G>C (p.Glu4143Gln)
c.12379G>C (p.Glu4127Gln)
c.12367G>C (p.Glu4123Gln)
c.12229G>C (p.Glu4077Gln)
c.12076G>C (p.Glu4026Gln)
Xg.53537596C>TCA413155061HUWE1c.11881G>A (p.Glu3961Lys)
c.12097G>A (p.Glu4033Lys)
c.2564G>A
n.232G>A
c.12070G>A (p.Glu4024Lys)
c.12346G>A (p.Glu4116Lys)
c.12343G>A (p.Glu4115Lys)
c.12301G>A (p.Glu4101Lys)
c.12298G>A (p.Glu4100Lys)
c.12295G>A (p.Glu4099Lys)
c.12247G>A (p.Glu4083Lys)
c.11944G>A (p.Glu3982Lys)
c.12478G>A (p.Glu4160Lys)
c.12475G>A (p.Glu4159Lys)
c.12457G>A (p.Glu4153Lys)
c.12433G>A (p.Glu4145Lys)
c.12430G>A (p.Glu4144Lys)
c.12427G>A (p.Glu4143Lys)
c.12379G>A (p.Glu4127Lys)
c.12367G>A (p.Glu4123Lys)
c.12229G>A (p.Glu4077Lys)
c.12076G>A (p.Glu4026Lys)
Xg.53537597A>CCA516423707HUWE1c.11880T>G (p.Arg3960=)
c.12096T>G (p.Arg4032=)
c.2563T>G
n.231T>G
c.12069T>G (p.Arg4023=)
c.12345T>G (p.Arg4115=)
c.12342T>G (p.Arg4114=)
c.12300T>G (p.Arg4100=)
c.12297T>G (p.Arg4099=)
c.12294T>G (p.Arg4098=)
c.12246T>G (p.Arg4082=)
c.11943T>G (p.Arg3981=)
c.12477T>G (p.Arg4159=)
c.12474T>G (p.Arg4158=)
c.12456T>G (p.Arg4152=)
c.12432T>G (p.Arg4144=)
c.12429T>G (p.Arg4143=)
c.12426T>G (p.Arg4142=)
c.12378T>G (p.Arg4126=)
c.12366T>G (p.Arg4122=)
c.12228T>G (p.Arg4076=)
c.12075T>G (p.Arg4025=)
Xg.53537597A>GCA516423709HUWE1c.11880T>C (p.Arg3960=)
c.12096T>C (p.Arg4032=)
c.2563T>C
n.231T>C
c.12069T>C (p.Arg4023=)
c.12345T>C (p.Arg4115=)
c.12342T>C (p.Arg4114=)
c.12300T>C (p.Arg4100=)
c.12297T>C (p.Arg4099=)
c.12294T>C (p.Arg4098=)
c.12246T>C (p.Arg4082=)
c.11943T>C (p.Arg3981=)
c.12477T>C (p.Arg4159=)
c.12474T>C (p.Arg4158=)
c.12456T>C (p.Arg4152=)
c.12432T>C (p.Arg4144=)
c.12429T>C (p.Arg4143=)
c.12426T>C (p.Arg4142=)
c.12378T>C (p.Arg4126=)
c.12366T>C (p.Arg4122=)
c.12228T>C (p.Arg4076=)
c.12075T>C (p.Arg4025=)
Xg.53537597A>TCA516423711HUWE1c.11880T>A (p.Arg3960=)
c.12096T>A (p.Arg4032=)
c.2563T>A
n.231T>A
c.12069T>A (p.Arg4023=)
c.12345T>A (p.Arg4115=)
c.12342T>A (p.Arg4114=)
c.12300T>A (p.Arg4100=)
c.12297T>A (p.Arg4099=)
c.12294T>A (p.Arg4098=)
c.12246T>A (p.Arg4082=)
c.11943T>A (p.Arg3981=)
c.12477T>A (p.Arg4159=)
c.12474T>A (p.Arg4158=)
c.12456T>A (p.Arg4152=)
c.12432T>A (p.Arg4144=)
c.12429T>A (p.Arg4143=)
c.12426T>A (p.Arg4142=)
c.12378T>A (p.Arg4126=)
c.12366T>A (p.Arg4122=)
c.12228T>A (p.Arg4076=)
c.12075T>A (p.Arg4025=)
Xg.53537598C>ACA413155071HUWE1c.11879G>T (p.Arg3960Leu)
c.12095G>T (p.Arg4032Leu)
c.2562G>T
n.230G>T
c.12068G>T (p.Arg4023Leu)
c.12344G>T (p.Arg4115Leu)
c.12341G>T (p.Arg4114Leu)
c.12299G>T (p.Arg4100Leu)
c.12296G>T (p.Arg4099Leu)
c.12293G>T (p.Arg4098Leu)
c.12245G>T (p.Arg4082Leu)
c.11942G>T (p.Arg3981Leu)
c.12476G>T (p.Arg4159Leu)
c.12473G>T (p.Arg4158Leu)
c.12455G>T (p.Arg4152Leu)
c.12431G>T (p.Arg4144Leu)
c.12428G>T (p.Arg4143Leu)
c.12425G>T (p.Arg4142Leu)
c.12377G>T (p.Arg4126Leu)
c.12365G>T (p.Arg4122Leu)
c.12227G>T (p.Arg4076Leu)
c.12074G>T (p.Arg4025Leu)
Xg.53537598C>GCA413155073HUWE1c.11879G>C (p.Arg3960Pro)
c.12095G>C (p.Arg4032Pro)
c.2562G>C
n.230G>C
c.12068G>C (p.Arg4023Pro)
c.12344G>C (p.Arg4115Pro)
c.12341G>C (p.Arg4114Pro)
c.12299G>C (p.Arg4100Pro)
c.12296G>C (p.Arg4099Pro)
c.12293G>C (p.Arg4098Pro)
c.12245G>C (p.Arg4082Pro)
c.11942G>C (p.Arg3981Pro)
c.12476G>C (p.Arg4159Pro)
c.12473G>C (p.Arg4158Pro)
c.12455G>C (p.Arg4152Pro)
c.12431G>C (p.Arg4144Pro)
c.12428G>C (p.Arg4143Pro)
c.12425G>C (p.Arg4142Pro)
c.12377G>C (p.Arg4126Pro)
c.12365G>C (p.Arg4122Pro)
c.12227G>C (p.Arg4076Pro)
c.12074G>C (p.Arg4025Pro)
Xg.53537598C>TCA413155078HUWE1c.11879G>A (p.Arg3960His)
c.12095G>A (p.Arg4032His)
c.2562G>A
n.230G>A
c.12068G>A (p.Arg4023His)
c.12344G>A (p.Arg4115His)
c.12341G>A (p.Arg4114His)
c.12299G>A (p.Arg4100His)
c.12296G>A (p.Arg4099His)
c.12293G>A (p.Arg4098His)
c.12245G>A (p.Arg4082His)
c.11942G>A (p.Arg3981His)
c.12476G>A (p.Arg4159His)
c.12473G>A (p.Arg4158His)
c.12455G>A (p.Arg4152His)
c.12431G>A (p.Arg4144His)
c.12428G>A (p.Arg4143His)
c.12425G>A (p.Arg4142His)
c.12377G>A (p.Arg4126His)
c.12365G>A (p.Arg4122His)
c.12227G>A (p.Arg4076His)
c.12074G>A (p.Arg4025His)
Xg.53537599G>ACA413155089HUWE1c.11878C>T (p.Arg3960Cys)
c.12094C>T (p.Arg4032Cys)
c.2561C>T
n.229C>T
c.12067C>T (p.Arg4023Cys)
c.12343C>T (p.Arg4115Cys)
c.12340C>T (p.Arg4114Cys)
c.12298C>T (p.Arg4100Cys)
c.12295C>T (p.Arg4099Cys)
c.12292C>T (p.Arg4098Cys)
c.12244C>T (p.Arg4082Cys)
c.11941C>T (p.Arg3981Cys)
c.12475C>T (p.Arg4159Cys)
c.12472C>T (p.Arg4158Cys)
c.12454C>T (p.Arg4152Cys)
c.12430C>T (p.Arg4144Cys)
c.12427C>T (p.Arg4143Cys)
c.12424C>T (p.Arg4142Cys)
c.12376C>T (p.Arg4126Cys)
c.12364C>T (p.Arg4122Cys)
c.12226C>T (p.Arg4076Cys)
c.12073C>T (p.Arg4025Cys)
 COSMIC
Xg.53537599G>CCA413155092HUWE1c.11878C>G (p.Arg3960Gly)
c.12094C>G (p.Arg4032Gly)
c.2561C>G
n.229C>G
c.12067C>G (p.Arg4023Gly)
c.12343C>G (p.Arg4115Gly)
c.12340C>G (p.Arg4114Gly)
c.12298C>G (p.Arg4100Gly)
c.12295C>G (p.Arg4099Gly)
c.12292C>G (p.Arg4098Gly)
c.12244C>G (p.Arg4082Gly)
c.11941C>G (p.Arg3981Gly)
c.12475C>G (p.Arg4159Gly)
c.12472C>G (p.Arg4158Gly)
c.12454C>G (p.Arg4152Gly)
c.12430C>G (p.Arg4144Gly)
c.12427C>G (p.Arg4143Gly)
c.12424C>G (p.Arg4142Gly)
c.12376C>G (p.Arg4126Gly)
c.12364C>G (p.Arg4122Gly)
c.12226C>G (p.Arg4076Gly)
c.12073C>G (p.Arg4025Gly)
Xg.53537599G>TCA413155097HUWE1c.11878C>A (p.Arg3960Ser)
c.12094C>A (p.Arg4032Ser)
c.2561C>A
n.229C>A
c.12067C>A (p.Arg4023Ser)
c.12343C>A (p.Arg4115Ser)
c.12340C>A (p.Arg4114Ser)
c.12298C>A (p.Arg4100Ser)
c.12295C>A (p.Arg4099Ser)
c.12292C>A (p.Arg4098Ser)
c.12244C>A (p.Arg4082Ser)
c.11941C>A (p.Arg3981Ser)
c.12475C>A (p.Arg4159Ser)
c.12472C>A (p.Arg4158Ser)
c.12454C>A (p.Arg4152Ser)
c.12430C>A (p.Arg4144Ser)
c.12427C>A (p.Arg4143Ser)
c.12424C>A (p.Arg4142Ser)
c.12376C>A (p.Arg4126Ser)
c.12364C>A (p.Arg4122Ser)
c.12226C>A (p.Arg4076Ser)
c.12073C>A (p.Arg4025Ser)
Xg.53537600A>CCA413155116HUWE1c.11877T>G (p.Tyr3959Ter)
c.12093T>G (p.Tyr4031Ter)
c.2560T>G
n.228T>G
c.12066T>G (p.Tyr4022Ter)
c.12342T>G (p.Tyr4114Ter)
c.12339T>G (p.Tyr4113Ter)
c.12297T>G (p.Tyr4099Ter)
c.12294T>G (p.Tyr4098Ter)
c.12291T>G (p.Tyr4097Ter)
c.12243T>G (p.Tyr4081Ter)
c.11940T>G (p.Tyr3980Ter)
c.12474T>G (p.Tyr4158Ter)
c.12471T>G (p.Tyr4157Ter)
c.12453T>G (p.Tyr4151Ter)
c.12429T>G (p.Tyr4143Ter)
c.12426T>G (p.Tyr4142Ter)
c.12423T>G (p.Tyr4141Ter)
c.12375T>G (p.Tyr4125Ter)
c.12363T>G (p.Tyr4121Ter)
c.12225T>G (p.Tyr4075Ter)
c.12072T>G (p.Tyr4024Ter)
Xg.53537600A>GCA516423721HUWE1c.11877T>C (p.Tyr3959=)
c.12093T>C (p.Tyr4031=)
c.2560T>C
n.228T>C
c.12066T>C (p.Tyr4022=)
c.12342T>C (p.Tyr4114=)
c.12339T>C (p.Tyr4113=)
c.12297T>C (p.Tyr4099=)
c.12294T>C (p.Tyr4098=)
c.12291T>C (p.Tyr4097=)
c.12243T>C (p.Tyr4081=)
c.11940T>C (p.Tyr3980=)
c.12474T>C (p.Tyr4158=)
c.12471T>C (p.Tyr4157=)
c.12453T>C (p.Tyr4151=)
c.12429T>C (p.Tyr4143=)
c.12426T>C (p.Tyr4142=)
c.12423T>C (p.Tyr4141=)
c.12375T>C (p.Tyr4125=)
c.12363T>C (p.Tyr4121=)
c.12225T>C (p.Tyr4075=)
c.12072T>C (p.Tyr4024=)
Xg.53537600A>TCA413155131HUWE1c.11877T>A (p.Tyr3959Ter)
c.12093T>A (p.Tyr4031Ter)
c.2560T>A
n.228T>A
c.12066T>A (p.Tyr4022Ter)
c.12342T>A (p.Tyr4114Ter)
c.12339T>A (p.Tyr4113Ter)
c.12297T>A (p.Tyr4099Ter)
c.12294T>A (p.Tyr4098Ter)
c.12291T>A (p.Tyr4097Ter)
c.12243T>A (p.Tyr4081Ter)
c.11940T>A (p.Tyr3980Ter)
c.12474T>A (p.Tyr4158Ter)
c.12471T>A (p.Tyr4157Ter)
c.12453T>A (p.Tyr4151Ter)
c.12429T>A (p.Tyr4143Ter)
c.12426T>A (p.Tyr4142Ter)
c.12423T>A (p.Tyr4141Ter)
c.12375T>A (p.Tyr4125Ter)
c.12363T>A (p.Tyr4121Ter)
c.12225T>A (p.Tyr4075Ter)
c.12072T>A (p.Tyr4024Ter)
Xg.53537601T>ACA413155141HUWE1c.11876A>T (p.Tyr3959Phe)
c.12092A>T (p.Tyr4031Phe)
c.2559A>T
n.227A>T
c.12065A>T (p.Tyr4022Phe)
c.12341A>T (p.Tyr4114Phe)
c.12338A>T (p.Tyr4113Phe)
c.12296A>T (p.Tyr4099Phe)
c.12293A>T (p.Tyr4098Phe)
c.12290A>T (p.Tyr4097Phe)
c.12242A>T (p.Tyr4081Phe)
c.11939A>T (p.Tyr3980Phe)
c.12473A>T (p.Tyr4158Phe)
c.12470A>T (p.Tyr4157Phe)
c.12452A>T (p.Tyr4151Phe)
c.12428A>T (p.Tyr4143Phe)
c.12425A>T (p.Tyr4142Phe)
c.12422A>T (p.Tyr4141Phe)
c.12374A>T (p.Tyr4125Phe)
c.12362A>T (p.Tyr4121Phe)
c.12224A>T (p.Tyr4075Phe)
c.12071A>T (p.Tyr4024Phe)
Xg.53537601T>CCA413155148HUWE1c.11876A>G (p.Tyr3959Cys)
c.12092A>G (p.Tyr4031Cys)
c.2559A>G
n.227A>G
c.12065A>G (p.Tyr4022Cys)
c.12341A>G (p.Tyr4114Cys)
c.12338A>G (p.Tyr4113Cys)
c.12296A>G (p.Tyr4099Cys)
c.12293A>G (p.Tyr4098Cys)
c.12290A>G (p.Tyr4097Cys)
c.12242A>G (p.Tyr4081Cys)
c.11939A>G (p.Tyr3980Cys)
c.12473A>G (p.Tyr4158Cys)
c.12470A>G (p.Tyr4157Cys)
c.12452A>G (p.Tyr4151Cys)
c.12428A>G (p.Tyr4143Cys)
c.12425A>G (p.Tyr4142Cys)
c.12422A>G (p.Tyr4141Cys)
c.12374A>G (p.Tyr4125Cys)
c.12362A>G (p.Tyr4121Cys)
c.12224A>G (p.Tyr4075Cys)
c.12071A>G (p.Tyr4024Cys)
Xg.53537601T>GCA413155151HUWE1c.11876A>C (p.Tyr3959Ser)
c.12092A>C (p.Tyr4031Ser)
c.2559A>C
n.227A>C
c.12065A>C (p.Tyr4022Ser)
c.12341A>C (p.Tyr4114Ser)
c.12338A>C (p.Tyr4113Ser)
c.12296A>C (p.Tyr4099Ser)
c.12293A>C (p.Tyr4098Ser)
c.12290A>C (p.Tyr4097Ser)
c.12242A>C (p.Tyr4081Ser)
c.11939A>C (p.Tyr3980Ser)
c.12473A>C (p.Tyr4158Ser)
c.12470A>C (p.Tyr4157Ser)
c.12452A>C (p.Tyr4151Ser)
c.12428A>C (p.Tyr4143Ser)
c.12425A>C (p.Tyr4142Ser)
c.12422A>C (p.Tyr4141Ser)
c.12374A>C (p.Tyr4125Ser)
c.12362A>C (p.Tyr4121Ser)
c.12224A>C (p.Tyr4075Ser)
c.12071A>C (p.Tyr4024Ser)
Xg.53537602A>CCA413155164HUWE1c.11875T>G (p.Tyr3959Asp)
c.12091T>G (p.Tyr4031Asp)
c.2558T>G
n.226T>G
c.12064T>G (p.Tyr4022Asp)
c.12340T>G (p.Tyr4114Asp)
c.12337T>G (p.Tyr4113Asp)
c.12295T>G (p.Tyr4099Asp)
c.12292T>G (p.Tyr4098Asp)
c.12289T>G (p.Tyr4097Asp)
c.12241T>G (p.Tyr4081Asp)
c.11938T>G (p.Tyr3980Asp)
c.12472T>G (p.Tyr4158Asp)
c.12469T>G (p.Tyr4157Asp)
c.12451T>G (p.Tyr4151Asp)
c.12427T>G (p.Tyr4143Asp)
c.12424T>G (p.Tyr4142Asp)
c.12421T>G (p.Tyr4141Asp)
c.12373T>G (p.Tyr4125Asp)
c.12361T>G (p.Tyr4121Asp)
c.12223T>G (p.Tyr4075Asp)
c.12070T>G (p.Tyr4024Asp)
Xg.53537602A>GCA413155162HUWE1c.11875T>C (p.Tyr3959His)
c.12091T>C (p.Tyr4031His)
c.2558T>C
n.226T>C
c.12064T>C (p.Tyr4022His)
c.12340T>C (p.Tyr4114His)
c.12337T>C (p.Tyr4113His)
c.12295T>C (p.Tyr4099His)
c.12292T>C (p.Tyr4098His)
c.12289T>C (p.Tyr4097His)
c.12241T>C (p.Tyr4081His)
c.11938T>C (p.Tyr3980His)
c.12472T>C (p.Tyr4158His)
c.12469T>C (p.Tyr4157His)
c.12451T>C (p.Tyr4151His)
c.12427T>C (p.Tyr4143His)
c.12424T>C (p.Tyr4142His)
c.12421T>C (p.Tyr4141His)
c.12373T>C (p.Tyr4125His)
c.12361T>C (p.Tyr4121His)
c.12223T>C (p.Tyr4075His)
c.12070T>C (p.Tyr4024His)
Xg.53537602A>TCA413155160HUWE1c.11875T>A (p.Tyr3959Asn)
c.12091T>A (p.Tyr4031Asn)
c.2558T>A
n.226T>A
c.12064T>A (p.Tyr4022Asn)
c.12340T>A (p.Tyr4114Asn)
c.12337T>A (p.Tyr4113Asn)
c.12295T>A (p.Tyr4099Asn)
c.12292T>A (p.Tyr4098Asn)
c.12289T>A (p.Tyr4097Asn)
c.12241T>A (p.Tyr4081Asn)
c.11938T>A (p.Tyr3980Asn)
c.12472T>A (p.Tyr4158Asn)
c.12469T>A (p.Tyr4157Asn)
c.12451T>A (p.Tyr4151Asn)
c.12427T>A (p.Tyr4143Asn)
c.12424T>A (p.Tyr4142Asn)
c.12421T>A (p.Tyr4141Asn)
c.12373T>A (p.Tyr4125Asn)
c.12361T>A (p.Tyr4121Asn)
c.12223T>A (p.Tyr4075Asn)
c.12070T>A (p.Tyr4024Asn)
Xg.53537603G>ACA516423738HUWE1c.11874C>T (p.Ser3958=)
c.12090C>T (p.Ser4030=)
c.2557C>T
n.225C>T
c.12063C>T (p.Ser4021=)
c.12339C>T (p.Ser4113=)
c.12336C>T (p.Ser4112=)
c.12294C>T (p.Ser4098=)
c.12291C>T (p.Ser4097=)
c.12288C>T (p.Ser4096=)
c.12240C>T (p.Ser4080=)
c.11937C>T (p.Ser3979=)
c.12471C>T (p.Ser4157=)
c.12468C>T (p.Ser4156=)
c.12450C>T (p.Ser4150=)
c.12426C>T (p.Ser4142=)
c.12423C>T (p.Ser4141=)
c.12420C>T (p.Ser4140=)
c.12372C>T (p.Ser4124=)
c.12360C>T (p.Ser4120=)
c.12222C>T (p.Ser4074=)
c.12069C>T (p.Ser4023=)
Xg.53537603G>CCA516423734HUWE1c.11874C>G (p.Ser3958=)
c.12090C>G (p.Ser4030=)
c.2557C>G
n.225C>G
c.12063C>G (p.Ser4021=)
c.12339C>G (p.Ser4113=)
c.12336C>G (p.Ser4112=)
c.12294C>G (p.Ser4098=)
c.12291C>G (p.Ser4097=)
c.12288C>G (p.Ser4096=)
c.12240C>G (p.Ser4080=)
c.11937C>G (p.Ser3979=)
c.12471C>G (p.Ser4157=)
c.12468C>G (p.Ser4156=)
c.12450C>G (p.Ser4150=)
c.12426C>G (p.Ser4142=)
c.12423C>G (p.Ser4141=)
c.12420C>G (p.Ser4140=)
c.12372C>G (p.Ser4124=)
c.12360C>G (p.Ser4120=)
c.12222C>G (p.Ser4074=)
c.12069C>G (p.Ser4023=)
Xg.53537603G>TCA516423736HUWE1c.11874C>A (p.Ser3958=)
c.12090C>A (p.Ser4030=)
c.2557C>A
n.225C>A
c.12063C>A (p.Ser4021=)
c.12339C>A (p.Ser4113=)
c.12336C>A (p.Ser4112=)
c.12294C>A (p.Ser4098=)
c.12291C>A (p.Ser4097=)
c.12288C>A (p.Ser4096=)
c.12240C>A (p.Ser4080=)
c.11937C>A (p.Ser3979=)
c.12471C>A (p.Ser4157=)
c.12468C>A (p.Ser4156=)
c.12450C>A (p.Ser4150=)
c.12426C>A (p.Ser4142=)
c.12423C>A (p.Ser4141=)
c.12420C>A (p.Ser4140=)
c.12372C>A (p.Ser4124=)
c.12360C>A (p.Ser4120=)
c.12222C>A (p.Ser4074=)
c.12069C>A (p.Ser4023=)
Xg.53537604G>ACA413155168HUWE1c.11873C>T (p.Ser3958Phe)
c.12089C>T (p.Ser4030Phe)
c.2556C>T
n.224C>T
c.12062C>T (p.Ser4021Phe)
c.12338C>T (p.Ser4113Phe)
c.12335C>T (p.Ser4112Phe)
c.12293C>T (p.Ser4098Phe)
c.12290C>T (p.Ser4097Phe)
c.12287C>T (p.Ser4096Phe)
c.12239C>T (p.Ser4080Phe)
c.11936C>T (p.Ser3979Phe)
c.12470C>T (p.Ser4157Phe)
c.12467C>T (p.Ser4156Phe)
c.12449C>T (p.Ser4150Phe)
c.12425C>T (p.Ser4142Phe)
c.12422C>T (p.Ser4141Phe)
c.12419C>T (p.Ser4140Phe)
c.12371C>T (p.Ser4124Phe)
c.12359C>T (p.Ser4120Phe)
c.12221C>T (p.Ser4074Phe)
c.12068C>T (p.Ser4023Phe)
Xg.53537604G>CCA413155186HUWE1c.11873C>G (p.Ser3958Cys)
c.12089C>G (p.Ser4030Cys)
c.2556C>G
n.224C>G
c.12062C>G (p.Ser4021Cys)
c.12338C>G (p.Ser4113Cys)
c.12335C>G (p.Ser4112Cys)
c.12293C>G (p.Ser4098Cys)
c.12290C>G (p.Ser4097Cys)
c.12287C>G (p.Ser4096Cys)
c.12239C>G (p.Ser4080Cys)
c.11936C>G (p.Ser3979Cys)
c.12470C>G (p.Ser4157Cys)
c.12467C>G (p.Ser4156Cys)
c.12449C>G (p.Ser4150Cys)
c.12425C>G (p.Ser4142Cys)
c.12422C>G (p.Ser4141Cys)
c.12419C>G (p.Ser4140Cys)
c.12371C>G (p.Ser4124Cys)
c.12359C>G (p.Ser4120Cys)
c.12221C>G (p.Ser4074Cys)
c.12068C>G (p.Ser4023Cys)
Xg.53537604G>TCA413155190HUWE1c.11873C>A (p.Ser3958Tyr)
c.12089C>A (p.Ser4030Tyr)
c.2556C>A
n.224C>A
c.12062C>A (p.Ser4021Tyr)
c.12338C>A (p.Ser4113Tyr)
c.12335C>A (p.Ser4112Tyr)
c.12293C>A (p.Ser4098Tyr)
c.12290C>A (p.Ser4097Tyr)
c.12287C>A (p.Ser4096Tyr)
c.12239C>A (p.Ser4080Tyr)
c.11936C>A (p.Ser3979Tyr)
c.12470C>A (p.Ser4157Tyr)
c.12467C>A (p.Ser4156Tyr)
c.12449C>A (p.Ser4150Tyr)
c.12425C>A (p.Ser4142Tyr)
c.12422C>A (p.Ser4141Tyr)
c.12419C>A (p.Ser4140Tyr)
c.12371C>A (p.Ser4124Tyr)
c.12359C>A (p.Ser4120Tyr)
c.12221C>A (p.Ser4074Tyr)
c.12068C>A (p.Ser4023Tyr)
Xg.53537605A>CCA413155196HUWE1c.11872T>G (p.Ser3958Ala)
c.12088T>G (p.Ser4030Ala)
c.2555T>G
n.223T>G
c.12061T>G (p.Ser4021Ala)
c.12337T>G (p.Ser4113Ala)
c.12334T>G (p.Ser4112Ala)
c.12292T>G (p.Ser4098Ala)
c.12289T>G (p.Ser4097Ala)
c.12286T>G (p.Ser4096Ala)
c.12238T>G (p.Ser4080Ala)
c.11935T>G (p.Ser3979Ala)
c.12469T>G (p.Ser4157Ala)
c.12466T>G (p.Ser4156Ala)
c.12448T>G (p.Ser4150Ala)
c.12424T>G (p.Ser4142Ala)
c.12421T>G (p.Ser4141Ala)
c.12418T>G (p.Ser4140Ala)
c.12370T>G (p.Ser4124Ala)
c.12358T>G (p.Ser4120Ala)
c.12220T>G (p.Ser4074Ala)
c.12067T>G (p.Ser4023Ala)
Xg.53537605A>GCA413155203HUWE1c.11872T>C (p.Ser3958Pro)
c.12088T>C (p.Ser4030Pro)
c.2555T>C
n.223T>C
c.12061T>C (p.Ser4021Pro)
c.12337T>C (p.Ser4113Pro)
c.12334T>C (p.Ser4112Pro)
c.12292T>C (p.Ser4098Pro)
c.12289T>C (p.Ser4097Pro)
c.12286T>C (p.Ser4096Pro)
c.12238T>C (p.Ser4080Pro)
c.11935T>C (p.Ser3979Pro)
c.12469T>C (p.Ser4157Pro)
c.12466T>C (p.Ser4156Pro)
c.12448T>C (p.Ser4150Pro)
c.12424T>C (p.Ser4142Pro)
c.12421T>C (p.Ser4141Pro)
c.12418T>C (p.Ser4140Pro)
c.12370T>C (p.Ser4124Pro)
c.12358T>C (p.Ser4120Pro)
c.12220T>C (p.Ser4074Pro)
c.12067T>C (p.Ser4023Pro)
Xg.53537605A>TCA413155211HUWE1c.11872T>A (p.Ser3958Thr)
c.12088T>A (p.Ser4030Thr)
c.2555T>A
n.223T>A
c.12061T>A (p.Ser4021Thr)
c.12337T>A (p.Ser4113Thr)
c.12334T>A (p.Ser4112Thr)
c.12292T>A (p.Ser4098Thr)
c.12289T>A (p.Ser4097Thr)
c.12286T>A (p.Ser4096Thr)
c.12238T>A (p.Ser4080Thr)
c.11935T>A (p.Ser3979Thr)
c.12469T>A (p.Ser4157Thr)
c.12466T>A (p.Ser4156Thr)
c.12448T>A (p.Ser4150Thr)
c.12424T>A (p.Ser4142Thr)
c.12421T>A (p.Ser4141Thr)
c.12418T>A (p.Ser4140Thr)
c.12370T>A (p.Ser4124Thr)
c.12358T>A (p.Ser4120Thr)
c.12220T>A (p.Ser4074Thr)
c.12067T>A (p.Ser4023Thr)
Xg.53537606G>ACA329184690HUWE1c.11871C>T (p.Asp3957=)
c.12087C>T (p.Asp4029=)
c.2554C>T
n.222C>T
c.12060C>T (p.Asp4020=)
c.12336C>T (p.Asp4112=)
c.12333C>T (p.Asp4111=)
c.12291C>T (p.Asp4097=)
c.12288C>T (p.Asp4096=)
c.12285C>T (p.Asp4095=)
c.12237C>T (p.Asp4079=)
c.11934C>T (p.Asp3978=)
c.12468C>T (p.Asp4156=)
c.12465C>T (p.Asp4155=)
c.12447C>T (p.Asp4149=)
c.12423C>T (p.Asp4141=)
c.12420C>T (p.Asp4140=)
c.12417C>T (p.Asp4139=)
c.12369C>T (p.Asp4123=)
c.12357C>T (p.Asp4119=)
c.12219C>T (p.Asp4073=)
c.12066C>T (p.Asp4022=)
 dbSNP
Xg.53537606G>CCA413155221HUWE1c.11871C>G (p.Asp3957Glu)
c.12087C>G (p.Asp4029Glu)
c.2554C>G
n.222C>G
c.12060C>G (p.Asp4020Glu)
c.12336C>G (p.Asp4112Glu)
c.12333C>G (p.Asp4111Glu)
c.12291C>G (p.Asp4097Glu)
c.12288C>G (p.Asp4096Glu)
c.12285C>G (p.Asp4095Glu)
c.12237C>G (p.Asp4079Glu)
c.11934C>G (p.Asp3978Glu)
c.12468C>G (p.Asp4156Glu)
c.12465C>G (p.Asp4155Glu)
c.12447C>G (p.Asp4149Glu)
c.12423C>G (p.Asp4141Glu)
c.12420C>G (p.Asp4140Glu)
c.12417C>G (p.Asp4139Glu)
c.12369C>G (p.Asp4123Glu)
c.12357C>G (p.Asp4119Glu)
c.12219C>G (p.Asp4073Glu)
c.12066C>G (p.Asp4022Glu)
Xg.53537606G=CA2429870458HUWE1c.11871C= (p.Asp3957=)
c.12087C= (p.Asp4029=)
c.2554C=
n.222C=
c.12060C= (p.Asp4020=)
c.12336C= (p.Asp4112=)
c.12333C= (p.Asp4111=)
c.12291C= (p.Asp4097=)
c.12288C= (p.Asp4096=)
c.12285C= (p.Asp4095=)
c.12237C= (p.Asp4079=)
c.11934C= (p.Asp3978=)
c.12468C= (p.Asp4156=)
c.12465C= (p.Asp4155=)
c.12447C= (p.Asp4149=)
c.12423C= (p.Asp4141=)
c.12420C= (p.Asp4140=)
c.12417C= (p.Asp4139=)
c.12369C= (p.Asp4123=)
c.12357C= (p.Asp4119=)
c.12219C= (p.Asp4073=)
c.12066C= (p.Asp4022=)
Xg.53537606G>TCA413155228HUWE1c.11871C>A (p.Asp3957Glu)
c.12087C>A (p.Asp4029Glu)
c.2554C>A
n.222C>A
c.12060C>A (p.Asp4020Glu)
c.12336C>A (p.Asp4112Glu)
c.12333C>A (p.Asp4111Glu)
c.12291C>A (p.Asp4097Glu)
c.12288C>A (p.Asp4096Glu)
c.12285C>A (p.Asp4095Glu)
c.12237C>A (p.Asp4079Glu)
c.11934C>A (p.Asp3978Glu)
c.12468C>A (p.Asp4156Glu)
c.12465C>A (p.Asp4155Glu)
c.12447C>A (p.Asp4149Glu)
c.12423C>A (p.Asp4141Glu)
c.12420C>A (p.Asp4140Glu)
c.12417C>A (p.Asp4139Glu)
c.12369C>A (p.Asp4123Glu)
c.12357C>A (p.Asp4119Glu)
c.12219C>A (p.Asp4073Glu)
c.12066C>A (p.Asp4022Glu)
Xg.53537607T>ACA413155234HUWE1c.11870A>T (p.Asp3957Val)
c.12086A>T (p.Asp4029Val)
c.2553A>T
n.221A>T
c.12059A>T (p.Asp4020Val)
c.12335A>T (p.Asp4112Val)
c.12332A>T (p.Asp4111Val)
c.12290A>T (p.Asp4097Val)
c.12287A>T (p.Asp4096Val)
c.12284A>T (p.Asp4095Val)
c.12236A>T (p.Asp4079Val)
c.11933A>T (p.Asp3978Val)
c.12467A>T (p.Asp4156Val)
c.12464A>T (p.Asp4155Val)
c.12446A>T (p.Asp4149Val)
c.12422A>T (p.Asp4141Val)
c.12419A>T (p.Asp4140Val)
c.12416A>T (p.Asp4139Val)
c.12368A>T (p.Asp4123Val)
c.12356A>T (p.Asp4119Val)
c.12218A>T (p.Asp4073Val)
c.12065A>T (p.Asp4022Val)
Xg.53537607T>CCA413155240HUWE1c.11870A>G (p.Asp3957Gly)
c.12086A>G (p.Asp4029Gly)
c.2553A>G
n.221A>G
c.12059A>G (p.Asp4020Gly)
c.12335A>G (p.Asp4112Gly)
c.12332A>G (p.Asp4111Gly)
c.12290A>G (p.Asp4097Gly)
c.12287A>G (p.Asp4096Gly)
c.12284A>G (p.Asp4095Gly)
c.12236A>G (p.Asp4079Gly)
c.11933A>G (p.Asp3978Gly)
c.12467A>G (p.Asp4156Gly)
c.12464A>G (p.Asp4155Gly)
c.12446A>G (p.Asp4149Gly)
c.12422A>G (p.Asp4141Gly)
c.12419A>G (p.Asp4140Gly)
c.12416A>G (p.Asp4139Gly)
c.12368A>G (p.Asp4123Gly)
c.12356A>G (p.Asp4119Gly)
c.12218A>G (p.Asp4073Gly)
c.12065A>G (p.Asp4022Gly)
Xg.53537607T>GCA413155245HUWE1c.11870A>C (p.Asp3957Ala)
c.12086A>C (p.Asp4029Ala)
c.2553A>C
n.221A>C
c.12059A>C (p.Asp4020Ala)
c.12335A>C (p.Asp4112Ala)
c.12332A>C (p.Asp4111Ala)
c.12290A>C (p.Asp4097Ala)
c.12287A>C (p.Asp4096Ala)
c.12284A>C (p.Asp4095Ala)
c.12236A>C (p.Asp4079Ala)
c.11933A>C (p.Asp3978Ala)
c.12467A>C (p.Asp4156Ala)
c.12464A>C (p.Asp4155Ala)
c.12446A>C (p.Asp4149Ala)
c.12422A>C (p.Asp4141Ala)
c.12419A>C (p.Asp4140Ala)
c.12416A>C (p.Asp4139Ala)
c.12368A>C (p.Asp4123Ala)
c.12356A>C (p.Asp4119Ala)
c.12218A>C (p.Asp4073Ala)
c.12065A>C (p.Asp4022Ala)
Xg.53537608C>ACA413155249HUWE1c.11869G>T (p.Asp3957Tyr)
c.12085G>T (p.Asp4029Tyr)
c.2552G>T
n.220G>T
c.12058G>T (p.Asp4020Tyr)
c.12334G>T (p.Asp4112Tyr)
c.12331G>T (p.Asp4111Tyr)
c.12289G>T (p.Asp4097Tyr)
c.12286G>T (p.Asp4096Tyr)
c.12283G>T (p.Asp4095Tyr)
c.12235G>T (p.Asp4079Tyr)
c.11932G>T (p.Asp3978Tyr)
c.12466G>T (p.Asp4156Tyr)
c.12463G>T (p.Asp4155Tyr)
c.12445G>T (p.Asp4149Tyr)
c.12421G>T (p.Asp4141Tyr)
c.12418G>T (p.Asp4140Tyr)
c.12415G>T (p.Asp4139Tyr)
c.12367G>T (p.Asp4123Tyr)
c.12355G>T (p.Asp4119Tyr)
c.12217G>T (p.Asp4073Tyr)
c.12064G>T (p.Asp4022Tyr)
Xg.53537608C>GCA413155247HUWE1c.11869G>C (p.Asp3957His)
c.12085G>C (p.Asp4029His)
c.2552G>C
n.220G>C
c.12058G>C (p.Asp4020His)
c.12334G>C (p.Asp4112His)
c.12331G>C (p.Asp4111His)
c.12289G>C (p.Asp4097His)
c.12286G>C (p.Asp4096His)
c.12283G>C (p.Asp4095His)
c.12235G>C (p.Asp4079His)
c.11932G>C (p.Asp3978His)
c.12466G>C (p.Asp4156His)
c.12463G>C (p.Asp4155His)
c.12445G>C (p.Asp4149His)
c.12421G>C (p.Asp4141His)
c.12418G>C (p.Asp4140His)
c.12415G>C (p.Asp4139His)
c.12367G>C (p.Asp4123His)
c.12355G>C (p.Asp4119His)
c.12217G>C (p.Asp4073His)
c.12064G>C (p.Asp4022His)
Xg.53537608C>TCA413155246HUWE1c.11869G>A (p.Asp3957Asn)
c.12085G>A (p.Asp4029Asn)
c.2552G>A
n.220G>A
c.12058G>A (p.Asp4020Asn)
c.12334G>A (p.Asp4112Asn)
c.12331G>A (p.Asp4111Asn)
c.12289G>A (p.Asp4097Asn)
c.12286G>A (p.Asp4096Asn)
c.12283G>A (p.Asp4095Asn)
c.12235G>A (p.Asp4079Asn)
c.11932G>A (p.Asp3978Asn)
c.12466G>A (p.Asp4156Asn)
c.12463G>A (p.Asp4155Asn)
c.12445G>A (p.Asp4149Asn)
c.12421G>A (p.Asp4141Asn)
c.12418G>A (p.Asp4140Asn)
c.12415G>A (p.Asp4139Asn)
c.12367G>A (p.Asp4123Asn)
c.12355G>A (p.Asp4119Asn)
c.12217G>A (p.Asp4073Asn)
c.12064G>A (p.Asp4022Asn)
Xg.53537609T>ACA413155256HUWE1c.11868A>T (p.Glu3956Asp)
c.12084A>T (p.Glu4028Asp)
c.2551A>T
n.219A>T
c.12057A>T (p.Glu4019Asp)
c.12333A>T (p.Glu4111Asp)
c.12330A>T (p.Glu4110Asp)
c.12288A>T (p.Glu4096Asp)
c.12285A>T (p.Glu4095Asp)
c.12282A>T (p.Glu4094Asp)
c.12234A>T (p.Glu4078Asp)
c.11931A>T (p.Glu3977Asp)
c.12465A>T (p.Glu4155Asp)
c.12462A>T (p.Glu4154Asp)
c.12444A>T (p.Glu4148Asp)
c.12420A>T (p.Glu4140Asp)
c.12417A>T (p.Glu4139Asp)
c.12414A>T (p.Glu4138Asp)
c.12366A>T (p.Glu4122Asp)
c.12354A>T (p.Glu4118Asp)
c.12216A>T (p.Glu4072Asp)
c.12063A>T (p.Glu4021Asp)
Xg.53537609T>CCA516423758HUWE1c.11868A>G (p.Glu3956=)
c.12084A>G (p.Glu4028=)
c.2551A>G
n.219A>G
c.12057A>G (p.Glu4019=)
c.12333A>G (p.Glu4111=)
c.12330A>G (p.Glu4110=)
c.12288A>G (p.Glu4096=)
c.12285A>G (p.Glu4095=)
c.12282A>G (p.Glu4094=)
c.12234A>G (p.Glu4078=)
c.11931A>G (p.Glu3977=)
c.12465A>G (p.Glu4155=)
c.12462A>G (p.Glu4154=)
c.12444A>G (p.Glu4148=)
c.12420A>G (p.Glu4140=)
c.12417A>G (p.Glu4139=)
c.12414A>G (p.Glu4138=)
c.12366A>G (p.Glu4122=)
c.12354A>G (p.Glu4118=)
c.12216A>G (p.Glu4072=)
c.12063A>G (p.Glu4021=)
Xg.53537609T>GCA413155258HUWE1c.11868A>C (p.Glu3956Asp)
c.12084A>C (p.Glu4028Asp)
c.2551A>C
n.219A>C
c.12057A>C (p.Glu4019Asp)
c.12333A>C (p.Glu4111Asp)
c.12330A>C (p.Glu4110Asp)
c.12288A>C (p.Glu4096Asp)
c.12285A>C (p.Glu4095Asp)
c.12282A>C (p.Glu4094Asp)
c.12234A>C (p.Glu4078Asp)
c.11931A>C (p.Glu3977Asp)
c.12465A>C (p.Glu4155Asp)
c.12462A>C (p.Glu4154Asp)
c.12444A>C (p.Glu4148Asp)
c.12420A>C (p.Glu4140Asp)
c.12417A>C (p.Glu4139Asp)
c.12414A>C (p.Glu4138Asp)
c.12366A>C (p.Glu4122Asp)
c.12354A>C (p.Glu4118Asp)
c.12216A>C (p.Glu4072Asp)
c.12063A>C (p.Glu4021Asp)
Xg.53537610T>ACA413155265HUWE1c.11867A>T (p.Glu3956Val)
c.12083A>T (p.Glu4028Val)
c.2550A>T
n.218A>T
c.12056A>T (p.Glu4019Val)
c.12332A>T (p.Glu4111Val)
c.12329A>T (p.Glu4110Val)
c.12287A>T (p.Glu4096Val)
c.12284A>T (p.Glu4095Val)
c.12281A>T (p.Glu4094Val)
c.12233A>T (p.Glu4078Val)
c.11930A>T (p.Glu3977Val)
c.12464A>T (p.Glu4155Val)
c.12461A>T (p.Glu4154Val)
c.12443A>T (p.Glu4148Val)
c.12419A>T (p.Glu4140Val)
c.12416A>T (p.Glu4139Val)
c.12413A>T (p.Glu4138Val)
c.12365A>T (p.Glu4122Val)
c.12353A>T (p.Glu4118Val)
c.12215A>T (p.Glu4072Val)
c.12062A>T (p.Glu4021Val)
Xg.53537610T>CCA413155266HUWE1c.11867A>G (p.Glu3956Gly)
c.12083A>G (p.Glu4028Gly)
c.2550A>G
n.218A>G
c.12056A>G (p.Glu4019Gly)
c.12332A>G (p.Glu4111Gly)
c.12329A>G (p.Glu4110Gly)
c.12287A>G (p.Glu4096Gly)
c.12284A>G (p.Glu4095Gly)
c.12281A>G (p.Glu4094Gly)
c.12233A>G (p.Glu4078Gly)
c.11930A>G (p.Glu3977Gly)
c.12464A>G (p.Glu4155Gly)
c.12461A>G (p.Glu4154Gly)
c.12443A>G (p.Glu4148Gly)
c.12419A>G (p.Glu4140Gly)
c.12416A>G (p.Glu4139Gly)
c.12413A>G (p.Glu4138Gly)
c.12365A>G (p.Glu4122Gly)
c.12353A>G (p.Glu4118Gly)
c.12215A>G (p.Glu4072Gly)
c.12062A>G (p.Glu4021Gly)
Xg.53537610T>GCA413155267HUWE1c.11867A>C (p.Glu3956Ala)
c.12083A>C (p.Glu4028Ala)
c.2550A>C
n.218A>C
c.12056A>C (p.Glu4019Ala)
c.12332A>C (p.Glu4111Ala)
c.12329A>C (p.Glu4110Ala)
c.12287A>C (p.Glu4096Ala)
c.12284A>C (p.Glu4095Ala)
c.12281A>C (p.Glu4094Ala)
c.12233A>C (p.Glu4078Ala)
c.11930A>C (p.Glu3977Ala)
c.12464A>C (p.Glu4155Ala)
c.12461A>C (p.Glu4154Ala)
c.12443A>C (p.Glu4148Ala)
c.12419A>C (p.Glu4140Ala)
c.12416A>C (p.Glu4139Ala)
c.12413A>C (p.Glu4138Ala)
c.12365A>C (p.Glu4122Ala)
c.12353A>C (p.Glu4118Ala)
c.12215A>C (p.Glu4072Ala)
c.12062A>C (p.Glu4021Ala)
Xg.53537611C>ACA413155268HUWE1c.11866G>T (p.Glu3956Ter)
c.12082G>T (p.Glu4028Ter)
c.2549G>T
n.217G>T
c.12055G>T (p.Glu4019Ter)
c.12331G>T (p.Glu4111Ter)
c.12328G>T (p.Glu4110Ter)
c.12286G>T (p.Glu4096Ter)
c.12283G>T (p.Glu4095Ter)
c.12280G>T (p.Glu4094Ter)
c.12232G>T (p.Glu4078Ter)
c.11929G>T (p.Glu3977Ter)
c.12463G>T (p.Glu4155Ter)
c.12460G>T (p.Glu4154Ter)
c.12442G>T (p.Glu4148Ter)
c.12418G>T (p.Glu4140Ter)
c.12415G>T (p.Glu4139Ter)
c.12412G>T (p.Glu4138Ter)
c.12364G>T (p.Glu4122Ter)
c.12352G>T (p.Glu4118Ter)
c.12214G>T (p.Glu4072Ter)
c.12061G>T (p.Glu4021Ter)
Xg.53537611C>GCA413155272HUWE1c.11866G>C (p.Glu3956Gln)
c.12082G>C (p.Glu4028Gln)
c.2549G>C
n.217G>C
c.12055G>C (p.Glu4019Gln)
c.12331G>C (p.Glu4111Gln)
c.12328G>C (p.Glu4110Gln)
c.12286G>C (p.Glu4096Gln)
c.12283G>C (p.Glu4095Gln)
c.12280G>C (p.Glu4094Gln)
c.12232G>C (p.Glu4078Gln)
c.11929G>C (p.Glu3977Gln)
c.12463G>C (p.Glu4155Gln)
c.12460G>C (p.Glu4154Gln)
c.12442G>C (p.Glu4148Gln)
c.12418G>C (p.Glu4140Gln)
c.12415G>C (p.Glu4139Gln)
c.12412G>C (p.Glu4138Gln)
c.12364G>C (p.Glu4122Gln)
c.12352G>C (p.Glu4118Gln)
c.12214G>C (p.Glu4072Gln)
c.12061G>C (p.Glu4021Gln)
Xg.53537611C>TCA413155274HUWE1c.11866G>A (p.Glu3956Lys)
c.12082G>A (p.Glu4028Lys)
c.2549G>A
n.217G>A
c.12055G>A (p.Glu4019Lys)
c.12331G>A (p.Glu4111Lys)
c.12328G>A (p.Glu4110Lys)
c.12286G>A (p.Glu4096Lys)
c.12283G>A (p.Glu4095Lys)
c.12280G>A (p.Glu4094Lys)
c.12232G>A (p.Glu4078Lys)
c.11929G>A (p.Glu3977Lys)
c.12463G>A (p.Glu4155Lys)
c.12460G>A (p.Glu4154Lys)
c.12442G>A (p.Glu4148Lys)
c.12418G>A (p.Glu4140Lys)
c.12415G>A (p.Glu4139Lys)
c.12412G>A (p.Glu4138Lys)
c.12364G>A (p.Glu4122Lys)
c.12352G>A (p.Glu4118Lys)
c.12214G>A (p.Glu4072Lys)
c.12061G>A (p.Glu4021Lys)
Xg.53537612A>CCA413155282HUWE1c.11865T>G (p.Phe3955Leu)
c.12081T>G (p.Phe4027Leu)
c.2548T>G
n.216T>G
c.12054T>G (p.Phe4018Leu)
c.12330T>G (p.Phe4110Leu)
c.12327T>G (p.Phe4109Leu)
c.12285T>G (p.Phe4095Leu)
c.12282T>G (p.Phe4094Leu)
c.12279T>G (p.Phe4093Leu)
c.12231T>G (p.Phe4077Leu)
c.11928T>G (p.Phe3976Leu)
c.12462T>G (p.Phe4154Leu)
c.12459T>G (p.Phe4153Leu)
c.12441T>G (p.Phe4147Leu)
c.12417T>G (p.Phe4139Leu)
c.12414T>G (p.Phe4138Leu)
c.12411T>G (p.Phe4137Leu)
c.12363T>G (p.Phe4121Leu)
c.12351T>G (p.Phe4117Leu)
c.12213T>G (p.Phe4071Leu)
c.12060T>G (p.Phe4020Leu)
Xg.53537612A>GCA516423772HUWE1c.11865T>C (p.Phe3955=)
c.12081T>C (p.Phe4027=)
c.2548T>C
n.216T>C
c.12054T>C (p.Phe4018=)
c.12330T>C (p.Phe4110=)
c.12327T>C (p.Phe4109=)
c.12285T>C (p.Phe4095=)
c.12282T>C (p.Phe4094=)
c.12279T>C (p.Phe4093=)
c.12231T>C (p.Phe4077=)
c.11928T>C (p.Phe3976=)
c.12462T>C (p.Phe4154=)
c.12459T>C (p.Phe4153=)
c.12441T>C (p.Phe4147=)
c.12417T>C (p.Phe4139=)
c.12414T>C (p.Phe4138=)
c.12411T>C (p.Phe4137=)
c.12363T>C (p.Phe4121=)
c.12351T>C (p.Phe4117=)
c.12213T>C (p.Phe4071=)
c.12060T>C (p.Phe4020=)
Xg.53537612A>TCA413155289HUWE1c.11865T>A (p.Phe3955Leu)
c.12081T>A (p.Phe4027Leu)
c.2548T>A
n.216T>A
c.12054T>A (p.Phe4018Leu)
c.12330T>A (p.Phe4110Leu)
c.12327T>A (p.Phe4109Leu)
c.12285T>A (p.Phe4095Leu)
c.12282T>A (p.Phe4094Leu)
c.12279T>A (p.Phe4093Leu)
c.12231T>A (p.Phe4077Leu)
c.11928T>A (p.Phe3976Leu)
c.12462T>A (p.Phe4154Leu)
c.12459T>A (p.Phe4153Leu)
c.12441T>A (p.Phe4147Leu)
c.12417T>A (p.Phe4139Leu)
c.12414T>A (p.Phe4138Leu)
c.12411T>A (p.Phe4137Leu)
c.12363T>A (p.Phe4121Leu)
c.12351T>A (p.Phe4117Leu)
c.12213T>A (p.Phe4071Leu)
c.12060T>A (p.Phe4020Leu)
Xg.53537613A>CCA413155295HUWE1c.11864T>G (p.Phe3955Cys)
c.12080T>G (p.Phe4027Cys)
c.2547T>G
n.215T>G
c.12053T>G (p.Phe4018Cys)
c.12329T>G (p.Phe4110Cys)
c.12326T>G (p.Phe4109Cys)
c.12284T>G (p.Phe4095Cys)
c.12281T>G (p.Phe4094Cys)
c.12278T>G (p.Phe4093Cys)
c.12230T>G (p.Phe4077Cys)
c.11927T>G (p.Phe3976Cys)
c.12461T>G (p.Phe4154Cys)
c.12458T>G (p.Phe4153Cys)
c.12440T>G (p.Phe4147Cys)
c.12416T>G (p.Phe4139Cys)
c.12413T>G (p.Phe4138Cys)
c.12410T>G (p.Phe4137Cys)
c.12362T>G (p.Phe4121Cys)
c.12350T>G (p.Phe4117Cys)
c.12212T>G (p.Phe4071Cys)
c.12059T>G (p.Phe4020Cys)
Xg.53537613A>GCA413155300HUWE1c.11864T>C (p.Phe3955Ser)
c.12080T>C (p.Phe4027Ser)
c.2547T>C
n.215T>C
c.12053T>C (p.Phe4018Ser)
c.12329T>C (p.Phe4110Ser)
c.12326T>C (p.Phe4109Ser)
c.12284T>C (p.Phe4095Ser)
c.12281T>C (p.Phe4094Ser)
c.12278T>C (p.Phe4093Ser)
c.12230T>C (p.Phe4077Ser)
c.11927T>C (p.Phe3976Ser)
c.12461T>C (p.Phe4154Ser)
c.12458T>C (p.Phe4153Ser)
c.12440T>C (p.Phe4147Ser)
c.12416T>C (p.Phe4139Ser)
c.12413T>C (p.Phe4138Ser)
c.12410T>C (p.Phe4137Ser)
c.12362T>C (p.Phe4121Ser)
c.12350T>C (p.Phe4117Ser)
c.12212T>C (p.Phe4071Ser)
c.12059T>C (p.Phe4020Ser)
Xg.53537613A>TCA413155306HUWE1c.11864T>A (p.Phe3955Tyr)
c.12080T>A (p.Phe4027Tyr)
c.2547T>A
n.215T>A
c.12053T>A (p.Phe4018Tyr)
c.12329T>A (p.Phe4110Tyr)
c.12326T>A (p.Phe4109Tyr)
c.12284T>A (p.Phe4095Tyr)
c.12281T>A (p.Phe4094Tyr)
c.12278T>A (p.Phe4093Tyr)
c.12230T>A (p.Phe4077Tyr)
c.11927T>A (p.Phe3976Tyr)
c.12461T>A (p.Phe4154Tyr)
c.12458T>A (p.Phe4153Tyr)
c.12440T>A (p.Phe4147Tyr)
c.12416T>A (p.Phe4139Tyr)
c.12413T>A (p.Phe4138Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12362T>A (p.Phe4121Tyr)
c.12350T>A (p.Phe4117Tyr)
c.12212T>A (p.Phe4071Tyr)
c.12059T>A (p.Phe4020Tyr)
Xg.53537614A>CCA413155328HUWE1c.11863T>G (p.Phe3955Val)
c.12079T>G (p.Phe4027Val)
c.2546T>G
n.214T>G
c.12052T>G (p.Phe4018Val)
c.12328T>G (p.Phe4110Val)
c.12325T>G (p.Phe4109Val)
c.12283T>G (p.Phe4095Val)
c.12280T>G (p.Phe4094Val)
c.12277T>G (p.Phe4093Val)
c.12229T>G (p.Phe4077Val)
c.11926T>G (p.Phe3976Val)
c.12460T>G (p.Phe4154Val)
c.12457T>G (p.Phe4153Val)
c.12439T>G (p.Phe4147Val)
c.12415T>G (p.Phe4139Val)
c.12412T>G (p.Phe4138Val)
c.12409T>G (p.Phe4137Val)
c.12361T>G (p.Phe4121Val)
c.12349T>G (p.Phe4117Val)
c.12211T>G (p.Phe4071Val)
c.12058T>G (p.Phe4020Val)
Xg.53537614A>GCA413155333HUWE1c.11863T>C (p.Phe3955Leu)
c.12079T>C (p.Phe4027Leu)
c.2546T>C
n.214T>C
c.12052T>C (p.Phe4018Leu)
c.12328T>C (p.Phe4110Leu)
c.12325T>C (p.Phe4109Leu)
c.12283T>C (p.Phe4095Leu)
c.12280T>C (p.Phe4094Leu)
c.12277T>C (p.Phe4093Leu)
c.12229T>C (p.Phe4077Leu)
c.11926T>C (p.Phe3976Leu)
c.12460T>C (p.Phe4154Leu)
c.12457T>C (p.Phe4153Leu)
c.12439T>C (p.Phe4147Leu)
c.12415T>C (p.Phe4139Leu)
c.12412T>C (p.Phe4138Leu)
c.12409T>C (p.Phe4137Leu)
c.12361T>C (p.Phe4121Leu)
c.12349T>C (p.Phe4117Leu)
c.12211T>C (p.Phe4071Leu)
c.12058T>C (p.Phe4020Leu)
Xg.53537614A>TCA413155312HUWE1c.11863T>A (p.Phe3955Ile)
c.12079T>A (p.Phe4027Ile)
c.2546T>A
n.214T>A
c.12052T>A (p.Phe4018Ile)
c.12328T>A (p.Phe4110Ile)
c.12325T>A (p.Phe4109Ile)
c.12283T>A (p.Phe4095Ile)
c.12280T>A (p.Phe4094Ile)
c.12277T>A (p.Phe4093Ile)
c.12229T>A (p.Phe4077Ile)
c.11926T>A (p.Phe3976Ile)
c.12460T>A (p.Phe4154Ile)
c.12457T>A (p.Phe4153Ile)
c.12439T>A (p.Phe4147Ile)
c.12415T>A (p.Phe4139Ile)
c.12412T>A (p.Phe4138Ile)
c.12409T>A (p.Phe4137Ile)
c.12361T>A (p.Phe4121Ile)
c.12349T>A (p.Phe4117Ile)
c.12211T>A (p.Phe4071Ile)
c.12058T>A (p.Phe4020Ile)
Xg.53537615C>ACA516423780HUWE1c.11862G>T (p.Val3954=)
c.12078G>T (p.Val4026=)
c.2545G>T
n.213G>T
c.12051G>T (p.Val4017=)
c.12327G>T (p.Val4109=)
c.12324G>T (p.Val4108=)
c.12282G>T (p.Val4094=)
c.12279G>T (p.Val4093=)
c.12276G>T (p.Val4092=)
c.12228G>T (p.Val4076=)
c.11925G>T (p.Val3975=)
c.12459G>T (p.Val4153=)
c.12456G>T (p.Val4152=)
c.12438G>T (p.Val4146=)
c.12414G>T (p.Val4138=)
c.12411G>T (p.Val4137=)
c.12408G>T (p.Val4136=)
c.12360G>T (p.Val4120=)
c.12348G>T (p.Val4116=)
c.12210G>T (p.Val4070=)
c.12057G>T (p.Val4019=)
Xg.53537615C=CA2429870459HUWE1c.11862G= (p.Val3954=)
c.12078G= (p.Val4026=)
c.2545G=
n.213G=
c.12051G= (p.Val4017=)
c.12327G= (p.Val4109=)
c.12324G= (p.Val4108=)
c.12282G= (p.Val4094=)
c.12279G= (p.Val4093=)
c.12276G= (p.Val4092=)
c.12228G= (p.Val4076=)
c.11925G= (p.Val3975=)
c.12459G= (p.Val4153=)
c.12456G= (p.Val4152=)
c.12438G= (p.Val4146=)
c.12414G= (p.Val4138=)
c.12411G= (p.Val4137=)
c.12408G= (p.Val4136=)
c.12360G= (p.Val4120=)
c.12348G= (p.Val4116=)
c.12210G= (p.Val4070=)
c.12057G= (p.Val4019=)
Xg.53537615C>GCA516423782HUWE1c.11862G>C (p.Val3954=)
c.12078G>C (p.Val4026=)
c.2545G>C
n.213G>C
c.12051G>C (p.Val4017=)
c.12327G>C (p.Val4109=)
c.12324G>C (p.Val4108=)
c.12282G>C (p.Val4094=)
c.12279G>C (p.Val4093=)
c.12276G>C (p.Val4092=)
c.12228G>C (p.Val4076=)
c.11925G>C (p.Val3975=)
c.12459G>C (p.Val4153=)
c.12456G>C (p.Val4152=)
c.12438G>C (p.Val4146=)
c.12414G>C (p.Val4138=)
c.12411G>C (p.Val4137=)
c.12408G>C (p.Val4136=)
c.12360G>C (p.Val4120=)
c.12348G>C (p.Val4116=)
c.12210G>C (p.Val4070=)
c.12057G>C (p.Val4019=)
Xg.53537615C>TCA10421281HUWE1c.11862G>A (p.Val3954=)
c.12078G>A (p.Val4026=)
c.2545G>A
n.213G>A
c.12051G>A (p.Val4017=)
c.12327G>A (p.Val4109=)
c.12324G>A (p.Val4108=)
c.12282G>A (p.Val4094=)
c.12279G>A (p.Val4093=)
c.12276G>A (p.Val4092=)
c.12228G>A (p.Val4076=)
c.11925G>A (p.Val3975=)
c.12459G>A (p.Val4153=)
c.12456G>A (p.Val4152=)
c.12438G>A (p.Val4146=)
c.12414G>A (p.Val4138=)
c.12411G>A (p.Val4137=)
c.12408G>A (p.Val4136=)
c.12360G>A (p.Val4120=)
c.12348G>A (p.Val4116=)
c.12210G>A (p.Val4070=)
c.12057G>A (p.Val4019=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53537616A>CCA413155341HUWE1c.11861T>G (p.Val3954Gly)
c.12077T>G (p.Val4026Gly)
c.2544T>G
n.212T>G
c.12050T>G (p.Val4017Gly)
c.12326T>G (p.Val4109Gly)
c.12323T>G (p.Val4108Gly)
c.12281T>G (p.Val4094Gly)
c.12278T>G (p.Val4093Gly)
c.12275T>G (p.Val4092Gly)
c.12227T>G (p.Val4076Gly)
c.11924T>G (p.Val3975Gly)
c.12458T>G (p.Val4153Gly)
c.12455T>G (p.Val4152Gly)
c.12437T>G (p.Val4146Gly)
c.12413T>G (p.Val4138Gly)
c.12410T>G (p.Val4137Gly)
c.12407T>G (p.Val4136Gly)
c.12359T>G (p.Val4120Gly)
c.12347T>G (p.Val4116Gly)
c.12209T>G (p.Val4070Gly)
c.12056T>G (p.Val4019Gly)
Xg.53537616A>GCA413155349HUWE1c.11861T>C (p.Val3954Ala)
c.12077T>C (p.Val4026Ala)
c.2544T>C
n.212T>C
c.12050T>C (p.Val4017Ala)
c.12326T>C (p.Val4109Ala)
c.12323T>C (p.Val4108Ala)
c.12281T>C (p.Val4094Ala)
c.12278T>C (p.Val4093Ala)
c.12275T>C (p.Val4092Ala)
c.12227T>C (p.Val4076Ala)
c.11924T>C (p.Val3975Ala)
c.12458T>C (p.Val4153Ala)
c.12455T>C (p.Val4152Ala)
c.12437T>C (p.Val4146Ala)
c.12413T>C (p.Val4138Ala)
c.12410T>C (p.Val4137Ala)
c.12407T>C (p.Val4136Ala)
c.12359T>C (p.Val4120Ala)
c.12347T>C (p.Val4116Ala)
c.12209T>C (p.Val4070Ala)
c.12056T>C (p.Val4019Ala)
Xg.53537616A>TCA413155348HUWE1c.11861T>A (p.Val3954Glu)
c.12077T>A (p.Val4026Glu)
c.2544T>A
n.212T>A
c.12050T>A (p.Val4017Glu)
c.12326T>A (p.Val4109Glu)
c.12323T>A (p.Val4108Glu)
c.12281T>A (p.Val4094Glu)
c.12278T>A (p.Val4093Glu)
c.12275T>A (p.Val4092Glu)
c.12227T>A (p.Val4076Glu)
c.11924T>A (p.Val3975Glu)
c.12458T>A (p.Val4153Glu)
c.12455T>A (p.Val4152Glu)
c.12437T>A (p.Val4146Glu)
c.12413T>A (p.Val4138Glu)
c.12410T>A (p.Val4137Glu)
c.12407T>A (p.Val4136Glu)
c.12359T>A (p.Val4120Glu)
c.12347T>A (p.Val4116Glu)
c.12209T>A (p.Val4070Glu)
c.12056T>A (p.Val4019Glu)
Xg.53537617C>ACA413155350HUWE1c.11860G>T (p.Val3954Leu)
c.12076G>T (p.Val4026Leu)
c.2543G>T
n.211G>T
c.12049G>T (p.Val4017Leu)
c.12325G>T (p.Val4109Leu)
c.12322G>T (p.Val4108Leu)
c.12280G>T (p.Val4094Leu)
c.12277G>T (p.Val4093Leu)
c.12274G>T (p.Val4092Leu)
c.12226G>T (p.Val4076Leu)
c.11923G>T (p.Val3975Leu)
c.12457G>T (p.Val4153Leu)
c.12454G>T (p.Val4152Leu)
c.12436G>T (p.Val4146Leu)
c.12412G>T (p.Val4138Leu)
c.12409G>T (p.Val4137Leu)
c.12406G>T (p.Val4136Leu)
c.12358G>T (p.Val4120Leu)
c.12346G>T (p.Val4116Leu)
c.12208G>T (p.Val4070Leu)
c.12055G>T (p.Val4019Leu)
Xg.53537617C>GCA413155354HUWE1c.11860G>C (p.Val3954Leu)
c.12076G>C (p.Val4026Leu)
c.2543G>C
n.211G>C
c.12049G>C (p.Val4017Leu)
c.12325G>C (p.Val4109Leu)
c.12322G>C (p.Val4108Leu)
c.12280G>C (p.Val4094Leu)
c.12277G>C (p.Val4093Leu)
c.12274G>C (p.Val4092Leu)
c.12226G>C (p.Val4076Leu)
c.11923G>C (p.Val3975Leu)
c.12457G>C (p.Val4153Leu)
c.12454G>C (p.Val4152Leu)
c.12436G>C (p.Val4146Leu)
c.12412G>C (p.Val4138Leu)
c.12409G>C (p.Val4137Leu)
c.12406G>C (p.Val4136Leu)
c.12358G>C (p.Val4120Leu)
c.12346G>C (p.Val4116Leu)
c.12208G>C (p.Val4070Leu)
c.12055G>C (p.Val4019Leu)
Xg.53537617C>TCA413155356HUWE1c.11860G>A (p.Val3954Met)
c.12076G>A (p.Val4026Met)
c.2543G>A
n.211G>A
c.12049G>A (p.Val4017Met)
c.12325G>A (p.Val4109Met)
c.12322G>A (p.Val4108Met)
c.12280G>A (p.Val4094Met)
c.12277G>A (p.Val4093Met)
c.12274G>A (p.Val4092Met)
c.12226G>A (p.Val4076Met)
c.11923G>A (p.Val3975Met)
c.12457G>A (p.Val4153Met)
c.12454G>A (p.Val4152Met)
c.12436G>A (p.Val4146Met)
c.12412G>A (p.Val4138Met)
c.12409G>A (p.Val4137Met)
c.12406G>A (p.Val4136Met)
c.12358G>A (p.Val4120Met)
c.12346G>A (p.Val4116Met)
c.12208G>A (p.Val4070Met)
c.12055G>A (p.Val4019Met)
Xg.53537618A=CA2429870460HUWE1c.11859T= (p.His3953=)
c.12075T= (p.His4025=)
c.2542T=
n.210T=
c.12048T= (p.His4016=)
c.12324T= (p.His4108=)
c.12321T= (p.His4107=)
c.12279T= (p.His4093=)
c.12276T= (p.His4092=)
c.12273T= (p.His4091=)
c.12225T= (p.His4075=)
c.11922T= (p.His3974=)
c.12456T= (p.His4152=)
c.12453T= (p.His4151=)
c.12435T= (p.His4145=)
c.12411T= (p.His4137=)
c.12408T= (p.His4136=)
c.12405T= (p.His4135=)
c.12357T= (p.His4119=)
c.12345T= (p.His4115=)
c.12207T= (p.His4069=)
c.12054T= (p.His4018=)
Xg.53537618A>CCA413155359HUWE1c.11859T>G (p.His3953Gln)
c.12075T>G (p.His4025Gln)
c.2542T>G
n.210T>G
c.12048T>G (p.His4016Gln)
c.12324T>G (p.His4108Gln)
c.12321T>G (p.His4107Gln)
c.12279T>G (p.His4093Gln)
c.12276T>G (p.His4092Gln)
c.12273T>G (p.His4091Gln)
c.12225T>G (p.His4075Gln)
c.11922T>G (p.His3974Gln)
c.12456T>G (p.His4152Gln)
c.12453T>G (p.His4151Gln)
c.12435T>G (p.His4145Gln)
c.12411T>G (p.His4137Gln)
c.12408T>G (p.His4136Gln)
c.12405T>G (p.His4135Gln)
c.12357T>G (p.His4119Gln)
c.12345T>G (p.His4115Gln)
c.12207T>G (p.His4069Gln)
c.12054T>G (p.His4018Gln)
Xg.53537618A>GCA10421282HUWE1c.11859T>C (p.His3953=)
c.12075T>C (p.His4025=)
c.2542T>C
n.210T>C
c.12048T>C (p.His4016=)
c.12324T>C (p.His4108=)
c.12321T>C (p.His4107=)
c.12279T>C (p.His4093=)
c.12276T>C (p.His4092=)
c.12273T>C (p.His4091=)
c.12225T>C (p.His4075=)
c.11922T>C (p.His3974=)
c.12456T>C (p.His4152=)
c.12453T>C (p.His4151=)
c.12435T>C (p.His4145=)
c.12411T>C (p.His4137=)
c.12408T>C (p.His4136=)
c.12405T>C (p.His4135=)
c.12357T>C (p.His4119=)
c.12345T>C (p.His4115=)
c.12207T>C (p.His4069=)
c.12054T>C (p.His4018=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53537618A>TCA413155366HUWE1c.11859T>A (p.His3953Gln)
c.12075T>A (p.His4025Gln)
c.2542T>A
n.210T>A
c.12048T>A (p.His4016Gln)
c.12324T>A (p.His4108Gln)
c.12321T>A (p.His4107Gln)
c.12279T>A (p.His4093Gln)
c.12276T>A (p.His4092Gln)
c.12273T>A (p.His4091Gln)
c.12225T>A (p.His4075Gln)
c.11922T>A (p.His3974Gln)
c.12456T>A (p.His4152Gln)
c.12453T>A (p.His4151Gln)
c.12435T>A (p.His4145Gln)
c.12411T>A (p.His4137Gln)
c.12408T>A (p.His4136Gln)
c.12405T>A (p.His4135Gln)
c.12357T>A (p.His4119Gln)
c.12345T>A (p.His4115Gln)
c.12207T>A (p.His4069Gln)
c.12054T>A (p.His4018Gln)
Xg.53537619T>ACA413155370HUWE1c.11858A>T (p.His3953Leu)
c.12074A>T (p.His4025Leu)
c.2541A>T
n.209A>T
c.12047A>T (p.His4016Leu)
c.12323A>T (p.His4108Leu)
c.12320A>T (p.His4107Leu)
c.12278A>T (p.His4093Leu)
c.12275A>T (p.His4092Leu)
c.12272A>T (p.His4091Leu)
c.12224A>T (p.His4075Leu)
c.11921A>T (p.His3974Leu)
c.12455A>T (p.His4152Leu)
c.12452A>T (p.His4151Leu)
c.12434A>T (p.His4145Leu)
c.12410A>T (p.His4137Leu)
c.12407A>T (p.His4136Leu)
c.12404A>T (p.His4135Leu)
c.12356A>T (p.His4119Leu)
c.12344A>T (p.His4115Leu)
c.12206A>T (p.His4069Leu)
c.12053A>T (p.His4018Leu)
Xg.53537619T>CCA413155372HUWE1c.11858A>G (p.His3953Arg)
c.12074A>G (p.His4025Arg)
c.2541A>G
n.209A>G
c.12047A>G (p.His4016Arg)
c.12323A>G (p.His4108Arg)
c.12320A>G (p.His4107Arg)
c.12278A>G (p.His4093Arg)
c.12275A>G (p.His4092Arg)
c.12272A>G (p.His4091Arg)
c.12224A>G (p.His4075Arg)
c.11921A>G (p.His3974Arg)
c.12455A>G (p.His4152Arg)
c.12452A>G (p.His4151Arg)
c.12434A>G (p.His4145Arg)
c.12410A>G (p.His4137Arg)
c.12407A>G (p.His4136Arg)
c.12404A>G (p.His4135Arg)
c.12356A>G (p.His4119Arg)
c.12344A>G (p.His4115Arg)
c.12206A>G (p.His4069Arg)
c.12053A>G (p.His4018Arg)
 ClinVar
Xg.53537619T>GCA413155375HUWE1c.11858A>C (p.His3953Pro)
c.12074A>C (p.His4025Pro)
c.2541A>C
n.209A>C
c.12047A>C (p.His4016Pro)
c.12323A>C (p.His4108Pro)
c.12320A>C (p.His4107Pro)
c.12278A>C (p.His4093Pro)
c.12275A>C (p.His4092Pro)
c.12272A>C (p.His4091Pro)
c.12224A>C (p.His4075Pro)
c.11921A>C (p.His3974Pro)
c.12455A>C (p.His4152Pro)
c.12452A>C (p.His4151Pro)
c.12434A>C (p.His4145Pro)
c.12410A>C (p.His4137Pro)
c.12407A>C (p.His4136Pro)
c.12404A>C (p.His4135Pro)
c.12356A>C (p.His4119Pro)
c.12344A>C (p.His4115Pro)
c.12206A>C (p.His4069Pro)
c.12053A>C (p.His4018Pro)
Xg.53537620G>ACA413155379HUWE1c.11857C>T (p.His3953Tyr)
c.12073C>T (p.His4025Tyr)
c.2540C>T
n.208C>T
c.12046C>T (p.His4016Tyr)
c.12322C>T (p.His4108Tyr)
c.12319C>T (p.His4107Tyr)
c.12277C>T (p.His4093Tyr)
c.12274C>T (p.His4092Tyr)
c.12271C>T (p.His4091Tyr)
c.12223C>T (p.His4075Tyr)
c.11920C>T (p.His3974Tyr)
c.12454C>T (p.His4152Tyr)
c.12451C>T (p.His4151Tyr)
c.12433C>T (p.His4145Tyr)
c.12409C>T (p.His4137Tyr)
c.12406C>T (p.His4136Tyr)
c.12403C>T (p.His4135Tyr)
c.12355C>T (p.His4119Tyr)
c.12343C>T (p.His4115Tyr)
c.12205C>T (p.His4069Tyr)
c.12052C>T (p.His4018Tyr)
Xg.53537620G>CCA413155383HUWE1c.11857C>G (p.His3953Asp)
c.12073C>G (p.His4025Asp)
c.2540C>G
n.208C>G
c.12046C>G (p.His4016Asp)
c.12322C>G (p.His4108Asp)
c.12319C>G (p.His4107Asp)
c.12277C>G (p.His4093Asp)
c.12274C>G (p.His4092Asp)
c.12271C>G (p.His4091Asp)
c.12223C>G (p.His4075Asp)
c.11920C>G (p.His3974Asp)
c.12454C>G (p.His4152Asp)
c.12451C>G (p.His4151Asp)
c.12433C>G (p.His4145Asp)
c.12409C>G (p.His4137Asp)
c.12406C>G (p.His4136Asp)
c.12403C>G (p.His4135Asp)
c.12355C>G (p.His4119Asp)
c.12343C>G (p.His4115Asp)
c.12205C>G (p.His4069Asp)
c.12052C>G (p.His4018Asp)
Xg.53537620G>TCA413155387HUWE1c.11857C>A (p.His3953Asn)
c.12073C>A (p.His4025Asn)
c.2540C>A
n.208C>A
c.12046C>A (p.His4016Asn)
c.12322C>A (p.His4108Asn)
c.12319C>A (p.His4107Asn)
c.12277C>A (p.His4093Asn)
c.12274C>A (p.His4092Asn)
c.12271C>A (p.His4091Asn)
c.12223C>A (p.His4075Asn)
c.11920C>A (p.His3974Asn)
c.12454C>A (p.His4152Asn)
c.12451C>A (p.His4151Asn)
c.12433C>A (p.His4145Asn)
c.12409C>A (p.His4137Asn)
c.12406C>A (p.His4136Asn)
c.12403C>A (p.His4135Asn)
c.12355C>A (p.His4119Asn)
c.12343C>A (p.His4115Asn)
c.12205C>A (p.His4069Asn)
c.12052C>A (p.His4018Asn)
Xg.53537621G>ACA516423803HUWE1c.11856C>T (p.Asp3952=)
c.12072C>T (p.Asp4024=)
c.2539C>T
n.207C>T
c.12045C>T (p.Asp4015=)
c.12321C>T (p.Asp4107=)
c.12318C>T (p.Asp4106=)
c.12276C>T (p.Asp4092=)
c.12273C>T (p.Asp4091=)
c.12270C>T (p.Asp4090=)
c.12222C>T (p.Asp4074=)
c.11919C>T (p.Asp3973=)
c.12453C>T (p.Asp4151=)
c.12450C>T (p.Asp4150=)
c.12432C>T (p.Asp4144=)
c.12408C>T (p.Asp4136=)
c.12405C>T (p.Asp4135=)
c.12402C>T (p.Asp4134=)
c.12354C>T (p.Asp4118=)
c.12342C>T (p.Asp4114=)
c.12204C>T (p.Asp4068=)
c.12051C>T (p.Asp4017=)
Xg.53537621G>CCA413155388HUWE1c.11856C>G (p.Asp3952Glu)
c.12072C>G (p.Asp4024Glu)
c.2539C>G
n.207C>G
c.12045C>G (p.Asp4015Glu)
c.12321C>G (p.Asp4107Glu)
c.12318C>G (p.Asp4106Glu)
c.12276C>G (p.Asp4092Glu)
c.12273C>G (p.Asp4091Glu)
c.12270C>G (p.Asp4090Glu)
c.12222C>G (p.Asp4074Glu)
c.11919C>G (p.Asp3973Glu)
c.12453C>G (p.Asp4151Glu)
c.12450C>G (p.Asp4150Glu)
c.12432C>G (p.Asp4144Glu)
c.12408C>G (p.Asp4136Glu)
c.12405C>G (p.Asp4135Glu)
c.12402C>G (p.Asp4134Glu)
c.12354C>G (p.Asp4118Glu)
c.12342C>G (p.Asp4114Glu)
c.12204C>G (p.Asp4068Glu)
c.12051C>G (p.Asp4017Glu)
Xg.53537621G>TCA413155389HUWE1c.11856C>A (p.Asp3952Glu)
c.12072C>A (p.Asp4024Glu)
c.2539C>A
n.207C>A
c.12045C>A (p.Asp4015Glu)
c.12321C>A (p.Asp4107Glu)
c.12318C>A (p.Asp4106Glu)
c.12276C>A (p.Asp4092Glu)
c.12273C>A (p.Asp4091Glu)
c.12270C>A (p.Asp4090Glu)
c.12222C>A (p.Asp4074Glu)
c.11919C>A (p.Asp3973Glu)
c.12453C>A (p.Asp4151Glu)
c.12450C>A (p.Asp4150Glu)
c.12432C>A (p.Asp4144Glu)
c.12408C>A (p.Asp4136Glu)
c.12405C>A (p.Asp4135Glu)
c.12402C>A (p.Asp4134Glu)
c.12354C>A (p.Asp4118Glu)
c.12342C>A (p.Asp4114Glu)
c.12204C>A (p.Asp4068Glu)
c.12051C>A (p.Asp4017Glu)
Xg.53537622T>ACA413155393HUWE1c.11855A>T (p.Asp3952Val)
c.12071A>T (p.Asp4024Val)
c.2538A>T
n.206A>T
c.12044A>T (p.Asp4015Val)
c.12320A>T (p.Asp4107Val)
c.12317A>T (p.Asp4106Val)
c.12275A>T (p.Asp4092Val)
c.12272A>T (p.Asp4091Val)
c.12269A>T (p.Asp4090Val)
c.12221A>T (p.Asp4074Val)
c.11918A>T (p.Asp3973Val)
c.12452A>T (p.Asp4151Val)
c.12449A>T (p.Asp4150Val)
c.12431A>T (p.Asp4144Val)
c.12407A>T (p.Asp4136Val)
c.12404A>T (p.Asp4135Val)
c.12401A>T (p.Asp4134Val)
c.12353A>T (p.Asp4118Val)
c.12341A>T (p.Asp4114Val)
c.12203A>T (p.Asp4068Val)
c.12050A>T (p.Asp4017Val)
Xg.53537622T>CCA413155400HUWE1c.11855A>G (p.Asp3952Gly)
c.12071A>G (p.Asp4024Gly)
c.2538A>G
n.206A>G
c.12044A>G (p.Asp4015Gly)
c.12320A>G (p.Asp4107Gly)
c.12317A>G (p.Asp4106Gly)
c.12275A>G (p.Asp4092Gly)
c.12272A>G (p.Asp4091Gly)
c.12269A>G (p.Asp4090Gly)
c.12221A>G (p.Asp4074Gly)
c.11918A>G (p.Asp3973Gly)
c.12452A>G (p.Asp4151Gly)
c.12449A>G (p.Asp4150Gly)
c.12431A>G (p.Asp4144Gly)
c.12407A>G (p.Asp4136Gly)
c.12404A>G (p.Asp4135Gly)
c.12401A>G (p.Asp4134Gly)
c.12353A>G (p.Asp4118Gly)
c.12341A>G (p.Asp4114Gly)
c.12203A>G (p.Asp4068Gly)
c.12050A>G (p.Asp4017Gly)
Xg.53537622T>GCA413155405HUWE1c.11855A>C (p.Asp3952Ala)
c.12071A>C (p.Asp4024Ala)
c.2538A>C
n.206A>C
c.12044A>C (p.Asp4015Ala)
c.12320A>C (p.Asp4107Ala)
c.12317A>C (p.Asp4106Ala)
c.12275A>C (p.Asp4092Ala)
c.12272A>C (p.Asp4091Ala)
c.12269A>C (p.Asp4090Ala)
c.12221A>C (p.Asp4074Ala)
c.11918A>C (p.Asp3973Ala)
c.12452A>C (p.Asp4151Ala)
c.12449A>C (p.Asp4150Ala)
c.12431A>C (p.Asp4144Ala)
c.12407A>C (p.Asp4136Ala)
c.12404A>C (p.Asp4135Ala)
c.12401A>C (p.Asp4134Ala)
c.12353A>C (p.Asp4118Ala)
c.12341A>C (p.Asp4114Ala)
c.12203A>C (p.Asp4068Ala)
c.12050A>C (p.Asp4017Ala)
Xg.53537623C>ACA413155417HUWE1c.11854G>T (p.Asp3952Tyr)
c.12070G>T (p.Asp4024Tyr)
c.2537G>T
n.205G>T
c.12043G>T (p.Asp4015Tyr)
c.12319G>T (p.Asp4107Tyr)
c.12316G>T (p.Asp4106Tyr)
c.12274G>T (p.Asp4092Tyr)
c.12271G>T (p.Asp4091Tyr)
c.12268G>T (p.Asp4090Tyr)
c.12220G>T (p.Asp4074Tyr)
c.11917G>T (p.Asp3973Tyr)
c.12451G>T (p.Asp4151Tyr)
c.12448G>T (p.Asp4150Tyr)
c.12430G>T (p.Asp4144Tyr)
c.12406G>T (p.Asp4136Tyr)
c.12403G>T (p.Asp4135Tyr)
c.12400G>T (p.Asp4134Tyr)
c.12352G>T (p.Asp4118Tyr)
c.12340G>T (p.Asp4114Tyr)
c.12202G>T (p.Asp4068Tyr)
c.12049G>T (p.Asp4017Tyr)
Xg.53537623C>GCA413155423HUWE1c.11854G>C (p.Asp3952His)
c.12070G>C (p.Asp4024His)
c.2537G>C
n.205G>C
c.12043G>C (p.Asp4015His)
c.12319G>C (p.Asp4107His)
c.12316G>C (p.Asp4106His)
c.12274G>C (p.Asp4092His)
c.12271G>C (p.Asp4091His)
c.12268G>C (p.Asp4090His)
c.12220G>C (p.Asp4074His)
c.11917G>C (p.Asp3973His)
c.12451G>C (p.Asp4151His)
c.12448G>C (p.Asp4150His)
c.12430G>C (p.Asp4144His)
c.12406G>C (p.Asp4136His)
c.12403G>C (p.Asp4135His)
c.12400G>C (p.Asp4134His)
c.12352G>C (p.Asp4118His)
c.12340G>C (p.Asp4114His)
c.12202G>C (p.Asp4068His)
c.12049G>C (p.Asp4017His)
Xg.53537623C>TCA413155427HUWE1c.11854G>A (p.Asp3952Asn)
c.12070G>A (p.Asp4024Asn)
c.2537G>A
n.205G>A
c.12043G>A (p.Asp4015Asn)
c.12319G>A (p.Asp4107Asn)
c.12316G>A (p.Asp4106Asn)
c.12274G>A (p.Asp4092Asn)
c.12271G>A (p.Asp4091Asn)
c.12268G>A (p.Asp4090Asn)
c.12220G>A (p.Asp4074Asn)
c.11917G>A (p.Asp3973Asn)
c.12451G>A (p.Asp4151Asn)
c.12448G>A (p.Asp4150Asn)
c.12430G>A (p.Asp4144Asn)
c.12406G>A (p.Asp4136Asn)
c.12403G>A (p.Asp4135Asn)
c.12400G>A (p.Asp4134Asn)
c.12352G>A (p.Asp4118Asn)
c.12340G>A (p.Asp4114Asn)
c.12202G>A (p.Asp4068Asn)
c.12049G>A (p.Asp4017Asn)
Xg.53537624A>CCA516423821HUWE1c.11853T>G (p.Arg3951=)
c.12069T>G (p.Arg4023=)
c.2536T>G
n.204T>G
c.12042T>G (p.Arg4014=)
c.12318T>G (p.Arg4106=)
c.12315T>G (p.Arg4105=)
c.12273T>G (p.Arg4091=)
c.12270T>G (p.Arg4090=)
c.12267T>G (p.Arg4089=)
c.12219T>G (p.Arg4073=)
c.11916T>G (p.Arg3972=)
c.12450T>G (p.Arg4150=)
c.12447T>G (p.Arg4149=)
c.12429T>G (p.Arg4143=)
c.12405T>G (p.Arg4135=)
c.12402T>G (p.Arg4134=)
c.12399T>G (p.Arg4133=)
c.12351T>G (p.Arg4117=)
c.12339T>G (p.Arg4113=)
c.12201T>G (p.Arg4067=)
c.12048T>G (p.Arg4016=)
Xg.53537624A>GCA516423817HUWE1c.11853T>C (p.Arg3951=)
c.12069T>C (p.Arg4023=)
c.2536T>C
n.204T>C
c.12042T>C (p.Arg4014=)
c.12318T>C (p.Arg4106=)
c.12315T>C (p.Arg4105=)
c.12273T>C (p.Arg4091=)
c.12270T>C (p.Arg4090=)
c.12267T>C (p.Arg4089=)
c.12219T>C (p.Arg4073=)
c.11916T>C (p.Arg3972=)
c.12450T>C (p.Arg4150=)
c.12447T>C (p.Arg4149=)
c.12429T>C (p.Arg4143=)
c.12405T>C (p.Arg4135=)
c.12402T>C (p.Arg4134=)
c.12399T>C (p.Arg4133=)
c.12351T>C (p.Arg4117=)
c.12339T>C (p.Arg4113=)
c.12201T>C (p.Arg4067=)
c.12048T>C (p.Arg4016=)
Xg.53537624A>TCA516423819HUWE1c.11853T>A (p.Arg3951=)
c.12069T>A (p.Arg4023=)
c.2536T>A
n.204T>A
c.12042T>A (p.Arg4014=)
c.12318T>A (p.Arg4106=)
c.12315T>A (p.Arg4105=)
c.12273T>A (p.Arg4091=)
c.12270T>A (p.Arg4090=)
c.12267T>A (p.Arg4089=)
c.12219T>A (p.Arg4073=)
c.11916T>A (p.Arg3972=)
c.12450T>A (p.Arg4150=)
c.12447T>A (p.Arg4149=)
c.12429T>A (p.Arg4143=)
c.12405T>A (p.Arg4135=)
c.12402T>A (p.Arg4134=)
c.12399T>A (p.Arg4133=)
c.12351T>A (p.Arg4117=)
c.12339T>A (p.Arg4113=)
c.12201T>A (p.Arg4067=)
c.12048T>A (p.Arg4016=)
Xg.53537625C>ACA413155431HUWE1c.11852G>T (p.Arg3951Leu)
c.12068G>T (p.Arg4023Leu)
c.2535G>T
n.203G>T
c.12041G>T (p.Arg4014Leu)
c.12317G>T (p.Arg4106Leu)
c.12314G>T (p.Arg4105Leu)
c.12272G>T (p.Arg4091Leu)
c.12269G>T (p.Arg4090Leu)
c.12266G>T (p.Arg4089Leu)
c.12218G>T (p.Arg4073Leu)
c.11915G>T (p.Arg3972Leu)
c.12449G>T (p.Arg4150Leu)
c.12446G>T (p.Arg4149Leu)
c.12428G>T (p.Arg4143Leu)
c.12404G>T (p.Arg4135Leu)
c.12401G>T (p.Arg4134Leu)
c.12398G>T (p.Arg4133Leu)
c.12350G>T (p.Arg4117Leu)
c.12338G>T (p.Arg4113Leu)
c.12200G>T (p.Arg4067Leu)
c.12047G>T (p.Arg4016Leu)
Xg.53537625C>GCA413155437HUWE1c.11852G>C (p.Arg3951Pro)
c.12068G>C (p.Arg4023Pro)
c.2535G>C
n.203G>C
c.12041G>C (p.Arg4014Pro)
c.12317G>C (p.Arg4106Pro)
c.12314G>C (p.Arg4105Pro)
c.12272G>C (p.Arg4091Pro)
c.12269G>C (p.Arg4090Pro)
c.12266G>C (p.Arg4089Pro)
c.12218G>C (p.Arg4073Pro)
c.11915G>C (p.Arg3972Pro)
c.12449G>C (p.Arg4150Pro)
c.12446G>C (p.Arg4149Pro)
c.12428G>C (p.Arg4143Pro)
c.12404G>C (p.Arg4135Pro)
c.12401G>C (p.Arg4134Pro)
c.12398G>C (p.Arg4133Pro)
c.12350G>C (p.Arg4117Pro)
c.12338G>C (p.Arg4113Pro)
c.12200G>C (p.Arg4067Pro)
c.12047G>C (p.Arg4016Pro)
Xg.53537625C>TCA413155441HUWE1c.11852G>A (p.Arg3951His)
c.12068G>A (p.Arg4023His)
c.2535G>A
n.203G>A
c.12041G>A (p.Arg4014His)
c.12317G>A (p.Arg4106His)
c.12314G>A (p.Arg4105His)
c.12272G>A (p.Arg4091His)
c.12269G>A (p.Arg4090His)
c.12266G>A (p.Arg4089His)
c.12218G>A (p.Arg4073His)
c.11915G>A (p.Arg3972His)
c.12449G>A (p.Arg4150His)
c.12446G>A (p.Arg4149His)
c.12428G>A (p.Arg4143His)
c.12404G>A (p.Arg4135His)
c.12401G>A (p.Arg4134His)
c.12398G>A (p.Arg4133His)
c.12350G>A (p.Arg4117His)
c.12338G>A (p.Arg4113His)
c.12200G>A (p.Arg4067His)
c.12047G>A (p.Arg4016His)
 gnomAD v4
Xg.53537626G>ACA413155445HUWE1c.11851C>T (p.Arg3951Cys)
c.12067C>T (p.Arg4023Cys)
c.2534C>T
n.202C>T
c.12040C>T (p.Arg4014Cys)
c.12316C>T (p.Arg4106Cys)
c.12313C>T (p.Arg4105Cys)
c.12271C>T (p.Arg4091Cys)
c.12268C>T (p.Arg4090Cys)
c.12265C>T (p.Arg4089Cys)
c.12217C>T (p.Arg4073Cys)
c.11914C>T (p.Arg3972Cys)
c.12448C>T (p.Arg4150Cys)
c.12445C>T (p.Arg4149Cys)
c.12427C>T (p.Arg4143Cys)
c.12403C>T (p.Arg4135Cys)
c.12400C>T (p.Arg4134Cys)
c.12397C>T (p.Arg4133Cys)
c.12349C>T (p.Arg4117Cys)
c.12337C>T (p.Arg4113Cys)
c.12199C>T (p.Arg4067Cys)
c.12046C>T (p.Arg4016Cys)
 ClinVar dbSNP COSMIC COSMIC
Xg.53537626G>CCA413155447HUWE1c.11851C>G (p.Arg3951Gly)
c.12067C>G (p.Arg4023Gly)
c.2534C>G
n.202C>G
c.12040C>G (p.Arg4014Gly)
c.12316C>G (p.Arg4106Gly)
c.12313C>G (p.Arg4105Gly)
c.12271C>G (p.Arg4091Gly)
c.12268C>G (p.Arg4090Gly)
c.12265C>G (p.Arg4089Gly)
c.12217C>G (p.Arg4073Gly)
c.11914C>G (p.Arg3972Gly)
c.12448C>G (p.Arg4150Gly)
c.12445C>G (p.Arg4149Gly)
c.12427C>G (p.Arg4143Gly)
c.12403C>G (p.Arg4135Gly)
c.12400C>G (p.Arg4134Gly)
c.12397C>G (p.Arg4133Gly)
c.12349C>G (p.Arg4117Gly)
c.12337C>G (p.Arg4113Gly)
c.12199C>G (p.Arg4067Gly)
c.12046C>G (p.Arg4016Gly)
Xg.53537626G=CA2429870461HUWE1c.11851C= (p.Arg3951=)
c.12067C= (p.Arg4023=)
c.2534C=
n.202C=
c.12040C= (p.Arg4014=)
c.12316C= (p.Arg4106=)
c.12313C= (p.Arg4105=)
c.12271C= (p.Arg4091=)
c.12268C= (p.Arg4090=)
c.12265C= (p.Arg4089=)
c.12217C= (p.Arg4073=)
c.11914C= (p.Arg3972=)
c.12448C= (p.Arg4150=)
c.12445C= (p.Arg4149=)
c.12427C= (p.Arg4143=)
c.12403C= (p.Arg4135=)
c.12400C= (p.Arg4134=)
c.12397C= (p.Arg4133=)
c.12349C= (p.Arg4117=)
c.12337C= (p.Arg4113=)
c.12199C= (p.Arg4067=)
c.12046C= (p.Arg4016=)
Xg.53537626G>TCA413155448HUWE1c.11851C>A (p.Arg3951Ser)
c.12067C>A (p.Arg4023Ser)
c.2534C>A
n.202C>A
c.12040C>A (p.Arg4014Ser)
c.12316C>A (p.Arg4106Ser)
c.12313C>A (p.Arg4105Ser)
c.12271C>A (p.Arg4091Ser)
c.12268C>A (p.Arg4090Ser)
c.12265C>A (p.Arg4089Ser)
c.12217C>A (p.Arg4073Ser)
c.11914C>A (p.Arg3972Ser)
c.12448C>A (p.Arg4150Ser)
c.12445C>A (p.Arg4149Ser)
c.12427C>A (p.Arg4143Ser)
c.12403C>A (p.Arg4135Ser)
c.12400C>A (p.Arg4134Ser)
c.12397C>A (p.Arg4133Ser)
c.12349C>A (p.Arg4117Ser)
c.12337C>A (p.Arg4113Ser)
c.12199C>A (p.Arg4067Ser)
c.12046C>A (p.Arg4016Ser)
 gnomAD v4
Xg.53537627A>CCA516423831HUWE1c.11850T>G (p.Arg3950=)
c.12066T>G (p.Arg4022=)
c.2533T>G
n.201T>G
c.12039T>G (p.Arg4013=)
c.12315T>G (p.Arg4105=)
c.12312T>G (p.Arg4104=)
c.12270T>G (p.Arg4090=)
c.12267T>G (p.Arg4089=)
c.12264T>G (p.Arg4088=)
c.12216T>G (p.Arg4072=)
c.11913T>G (p.Arg3971=)
c.12447T>G (p.Arg4149=)
c.12444T>G (p.Arg4148=)
c.12426T>G (p.Arg4142=)
c.12402T>G (p.Arg4134=)
c.12399T>G (p.Arg4133=)
c.12396T>G (p.Arg4132=)
c.12348T>G (p.Arg4116=)
c.12336T>G (p.Arg4112=)
c.12198T>G (p.Arg4066=)
c.12045T>G (p.Arg4015=)
Xg.53537627A>GCA516423833HUWE1c.11850T>C (p.Arg3950=)
c.12066T>C (p.Arg4022=)
c.2533T>C
n.201T>C
c.12039T>C (p.Arg4013=)
c.12315T>C (p.Arg4105=)
c.12312T>C (p.Arg4104=)
c.12270T>C (p.Arg4090=)
c.12267T>C (p.Arg4089=)
c.12264T>C (p.Arg4088=)
c.12216T>C (p.Arg4072=)
c.11913T>C (p.Arg3971=)
c.12447T>C (p.Arg4149=)
c.12444T>C (p.Arg4148=)
c.12426T>C (p.Arg4142=)
c.12402T>C (p.Arg4134=)
c.12399T>C (p.Arg4133=)
c.12396T>C (p.Arg4132=)
c.12348T>C (p.Arg4116=)
c.12336T>C (p.Arg4112=)
c.12198T>C (p.Arg4066=)
c.12045T>C (p.Arg4015=)
Xg.53537627A>TCA516423835HUWE1c.11850T>A (p.Arg3950=)
c.12066T>A (p.Arg4022=)
c.2533T>A
n.201T>A
c.12039T>A (p.Arg4013=)
c.12315T>A (p.Arg4105=)
c.12312T>A (p.Arg4104=)
c.12270T>A (p.Arg4090=)
c.12267T>A (p.Arg4089=)
c.12264T>A (p.Arg4088=)
c.12216T>A (p.Arg4072=)
c.11913T>A (p.Arg3971=)
c.12447T>A (p.Arg4149=)
c.12444T>A (p.Arg4148=)
c.12426T>A (p.Arg4142=)
c.12402T>A (p.Arg4134=)
c.12399T>A (p.Arg4133=)
c.12396T>A (p.Arg4132=)
c.12348T>A (p.Arg4116=)
c.12336T>A (p.Arg4112=)
c.12198T>A (p.Arg4066=)
c.12045T>A (p.Arg4015=)
Xg.53537628C>ACA329184697HUWE1c.11849G>T (p.Arg3950Leu)
c.12065G>T (p.Arg4022Leu)
c.2532G>T
n.200G>T
c.12038G>T (p.Arg4013Leu)
c.12314G>T (p.Arg4105Leu)
c.12311G>T (p.Arg4104Leu)
c.12269G>T (p.Arg4090Leu)
c.12266G>T (p.Arg4089Leu)
c.12263G>T (p.Arg4088Leu)
c.12215G>T (p.Arg4072Leu)
c.11912G>T (p.Arg3971Leu)
c.12446G>T (p.Arg4149Leu)
c.12443G>T (p.Arg4148Leu)
c.12425G>T (p.Arg4142Leu)
c.12401G>T (p.Arg4134Leu)
c.12398G>T (p.Arg4133Leu)
c.12395G>T (p.Arg4132Leu)
c.12347G>T (p.Arg4116Leu)
c.12335G>T (p.Arg4112Leu)
c.12197G>T (p.Arg4066Leu)
c.12044G>T (p.Arg4015Leu)
 dbSNP
Xg.53537628C=CA2429870462HUWE1c.11849G= (p.Arg3950=)
c.12065G= (p.Arg4022=)
c.2532G=
n.200G=
c.12038G= (p.Arg4013=)
c.12314G= (p.Arg4105=)
c.12311G= (p.Arg4104=)
c.12269G= (p.Arg4090=)
c.12266G= (p.Arg4089=)
c.12263G= (p.Arg4088=)
c.12215G= (p.Arg4072=)
c.11912G= (p.Arg3971=)
c.12446G= (p.Arg4149=)
c.12443G= (p.Arg4148=)
c.12425G= (p.Arg4142=)
c.12401G= (p.Arg4134=)
c.12398G= (p.Arg4133=)
c.12395G= (p.Arg4132=)
c.12347G= (p.Arg4116=)
c.12335G= (p.Arg4112=)
c.12197G= (p.Arg4066=)
c.12044G= (p.Arg4015=)
Xg.53537628C>GCA413155464HUWE1c.11849G>C (p.Arg3950Pro)
c.12065G>C (p.Arg4022Pro)
c.2532G>C
n.200G>C
c.12038G>C (p.Arg4013Pro)
c.12314G>C (p.Arg4105Pro)
c.12311G>C (p.Arg4104Pro)
c.12269G>C (p.Arg4090Pro)
c.12266G>C (p.Arg4089Pro)
c.12263G>C (p.Arg4088Pro)
c.12215G>C (p.Arg4072Pro)
c.11912G>C (p.Arg3971Pro)
c.12446G>C (p.Arg4149Pro)
c.12443G>C (p.Arg4148Pro)
c.12425G>C (p.Arg4142Pro)
c.12401G>C (p.Arg4134Pro)
c.12398G>C (p.Arg4133Pro)
c.12395G>C (p.Arg4132Pro)
c.12347G>C (p.Arg4116Pro)
c.12335G>C (p.Arg4112Pro)
c.12197G>C (p.Arg4066Pro)
c.12044G>C (p.Arg4015Pro)
Xg.53537628C>TCA413155455HUWE1c.11849G>A (p.Arg3950His)
c.12065G>A (p.Arg4022His)
c.2532G>A
n.200G>A
c.12038G>A (p.Arg4013His)
c.12314G>A (p.Arg4105His)
c.12311G>A (p.Arg4104His)
c.12269G>A (p.Arg4090His)
c.12266G>A (p.Arg4089His)
c.12263G>A (p.Arg4088His)
c.12215G>A (p.Arg4072His)
c.11912G>A (p.Arg3971His)
c.12446G>A (p.Arg4149His)
c.12443G>A (p.Arg4148His)
c.12425G>A (p.Arg4142His)
c.12401G>A (p.Arg4134His)
c.12398G>A (p.Arg4133His)
c.12395G>A (p.Arg4132His)
c.12347G>A (p.Arg4116His)
c.12335G>A (p.Arg4112His)
c.12197G>A (p.Arg4066His)
c.12044G>A (p.Arg4015His)
 gnomAD v4
Xg.53537629G>ACA413155468HUWE1c.11848C>T (p.Arg3950Cys)
c.12064C>T (p.Arg4022Cys)
c.2531C>T
n.199C>T
c.12037C>T (p.Arg4013Cys)
c.12313C>T (p.Arg4105Cys)
c.12310C>T (p.Arg4104Cys)
c.12268C>T (p.Arg4090Cys)
c.12265C>T (p.Arg4089Cys)
c.12262C>T (p.Arg4088Cys)
c.12214C>T (p.Arg4072Cys)
c.11911C>T (p.Arg3971Cys)
c.12445C>T (p.Arg4149Cys)
c.12442C>T (p.Arg4148Cys)
c.12424C>T (p.Arg4142Cys)
c.12400C>T (p.Arg4134Cys)
c.12397C>T (p.Arg4133Cys)
c.12394C>T (p.Arg4132Cys)
c.12346C>T (p.Arg4116Cys)
c.12334C>T (p.Arg4112Cys)
c.12196C>T (p.Arg4066Cys)
c.12043C>T (p.Arg4015Cys)
 COSMIC COSMIC
Xg.53537629G>CCA413155472HUWE1c.11848C>G (p.Arg3950Gly)
c.12064C>G (p.Arg4022Gly)
c.2531C>G
n.199C>G
c.12037C>G (p.Arg4013Gly)
c.12313C>G (p.Arg4105Gly)
c.12310C>G (p.Arg4104Gly)
c.12268C>G (p.Arg4090Gly)
c.12265C>G (p.Arg4089Gly)
c.12262C>G (p.Arg4088Gly)
c.12214C>G (p.Arg4072Gly)
c.11911C>G (p.Arg3971Gly)
c.12445C>G (p.Arg4149Gly)
c.12442C>G (p.Arg4148Gly)
c.12424C>G (p.Arg4142Gly)
c.12400C>G (p.Arg4134Gly)
c.12397C>G (p.Arg4133Gly)
c.12394C>G (p.Arg4132Gly)
c.12346C>G (p.Arg4116Gly)
c.12334C>G (p.Arg4112Gly)
c.12196C>G (p.Arg4066Gly)
c.12043C>G (p.Arg4015Gly)
Xg.53537629G>TCA413155480HUWE1c.11848C>A (p.Arg3950Ser)
c.12064C>A (p.Arg4022Ser)
c.2531C>A
n.199C>A
c.12037C>A (p.Arg4013Ser)
c.12313C>A (p.Arg4105Ser)
c.12310C>A (p.Arg4104Ser)
c.12268C>A (p.Arg4090Ser)
c.12265C>A (p.Arg4089Ser)
c.12262C>A (p.Arg4088Ser)
c.12214C>A (p.Arg4072Ser)
c.11911C>A (p.Arg3971Ser)
c.12445C>A (p.Arg4149Ser)
c.12442C>A (p.Arg4148Ser)
c.12424C>A (p.Arg4142Ser)
c.12400C>A (p.Arg4134Ser)
c.12397C>A (p.Arg4133Ser)
c.12394C>A (p.Arg4132Ser)
c.12346C>A (p.Arg4116Ser)
c.12334C>A (p.Arg4112Ser)
c.12196C>A (p.Arg4066Ser)
c.12043C>A (p.Arg4015Ser)
Xg.53537630delCA2579616695HUWE1c.11848del (p.Arg3950ValfsTer21)
c.12064del (p.Arg4022ValfsTer21)
c.2531del
n.199del
c.12037del (p.Arg4013ValfsTer21)
c.12313del (p.Arg4105ValfsTer21)
c.12310del (p.Arg4104ValfsTer21)
c.12268del (p.Arg4090ValfsTer21)
c.12265del (p.Arg4089ValfsTer21)
c.12262del (p.Arg4088ValfsTer21)
c.12214del (p.Arg4072ValfsTer21)
c.11911del (p.Arg3971ValfsTer21)
c.12445del (p.Arg4149ValfsTer21)
c.12442del (p.Arg4148ValfsTer21)
c.12424del (p.Arg4142ValfsTer21)
c.12400del (p.Arg4134ValfsTer21)
c.12397del (p.Arg4133ValfsTer21)
c.12394del (p.Arg4132ValfsTer21)
c.12346del (p.Arg4116ValfsTer21)
c.12334del (p.Arg4112ValfsTer21)
c.12196del (p.Arg4066ValfsTer21)
c.12043del (p.Arg4015ValfsTer21)
Xg.53537630G>ACA516423840HUWE1c.11847C>T (p.Val3949=)
c.12063C>T (p.Val4021=)
c.2530C>T
n.198C>T
c.12036C>T (p.Val4012=)
c.12312C>T (p.Val4104=)
c.12309C>T (p.Val4103=)
c.12267C>T (p.Val4089=)
c.12264C>T (p.Val4088=)
c.12261C>T (p.Val4087=)
c.12213C>T (p.Val4071=)
c.11910C>T (p.Val3970=)
c.12444C>T (p.Val4148=)
c.12441C>T (p.Val4147=)
c.12423C>T (p.Val4141=)
c.12399C>T (p.Val4133=)
c.12396C>T (p.Val4132=)
c.12393C>T (p.Val4131=)
c.12345C>T (p.Val4115=)
c.12333C>T (p.Val4111=)
c.12195C>T (p.Val4065=)
c.12042C>T (p.Val4014=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53537630G>CCA516423841HUWE1c.11847C>G (p.Val3949=)
c.12063C>G (p.Val4021=)
c.2530C>G
n.198C>G
c.12036C>G (p.Val4012=)
c.12312C>G (p.Val4104=)
c.12309C>G (p.Val4103=)
c.12267C>G (p.Val4089=)
c.12264C>G (p.Val4088=)
c.12261C>G (p.Val4087=)
c.12213C>G (p.Val4071=)
c.11910C>G (p.Val3970=)
c.12444C>G (p.Val4148=)
c.12441C>G (p.Val4147=)
c.12423C>G (p.Val4141=)
c.12399C>G (p.Val4133=)
c.12396C>G (p.Val4132=)
c.12393C>G (p.Val4131=)
c.12345C>G (p.Val4115=)
c.12333C>G (p.Val4111=)
c.12195C>G (p.Val4065=)
c.12042C>G (p.Val4014=)
Xg.53537630G=CA2429870463HUWE1c.11847C= (p.Val3949=)
c.12063C= (p.Val4021=)
c.2530C=
n.198C=
c.12036C= (p.Val4012=)
c.12312C= (p.Val4104=)
c.12309C= (p.Val4103=)
c.12267C= (p.Val4089=)
c.12264C= (p.Val4088=)
c.12261C= (p.Val4087=)
c.12213C= (p.Val4071=)
c.11910C= (p.Val3970=)
c.12444C= (p.Val4148=)
c.12441C= (p.Val4147=)
c.12423C= (p.Val4141=)
c.12399C= (p.Val4133=)
c.12396C= (p.Val4132=)
c.12393C= (p.Val4131=)
c.12345C= (p.Val4115=)
c.12333C= (p.Val4111=)
c.12195C= (p.Val4065=)
c.12042C= (p.Val4014=)
Xg.53537630G>TCA516423842HUWE1c.11847C>A (p.Val3949=)
c.12063C>A (p.Val4021=)
c.2530C>A
n.198C>A
c.12036C>A (p.Val4012=)
c.12312C>A (p.Val4104=)
c.12309C>A (p.Val4103=)
c.12267C>A (p.Val4089=)
c.12264C>A (p.Val4088=)
c.12261C>A (p.Val4087=)
c.12213C>A (p.Val4071=)
c.11910C>A (p.Val3970=)
c.12444C>A (p.Val4148=)
c.12441C>A (p.Val4147=)
c.12423C>A (p.Val4141=)
c.12399C>A (p.Val4133=)
c.12396C>A (p.Val4132=)
c.12393C>A (p.Val4131=)
c.12345C>A (p.Val4115=)
c.12333C>A (p.Val4111=)
c.12195C>A (p.Val4065=)
c.12042C>A (p.Val4014=)
Xg.53537631A>CCA413155484HUWE1c.11846T>G (p.Val3949Gly)
c.12062T>G (p.Val4021Gly)
c.2529T>G
n.197T>G
c.12035T>G (p.Val4012Gly)
c.12311T>G (p.Val4104Gly)
c.12308T>G (p.Val4103Gly)
c.12266T>G (p.Val4089Gly)
c.12263T>G (p.Val4088Gly)
c.12260T>G (p.Val4087Gly)
c.12212T>G (p.Val4071Gly)
c.11909T>G (p.Val3970Gly)
c.12443T>G (p.Val4148Gly)
c.12440T>G (p.Val4147Gly)
c.12422T>G (p.Val4141Gly)
c.12398T>G (p.Val4133Gly)
c.12395T>G (p.Val4132Gly)
c.12392T>G (p.Val4131Gly)
c.12344T>G (p.Val4115Gly)
c.12332T>G (p.Val4111Gly)
c.12194T>G (p.Val4065Gly)
c.12041T>G (p.Val4014Gly)
Xg.53537631A>GCA413155486HUWE1c.11846T>C (p.Val3949Ala)
c.12062T>C (p.Val4021Ala)
c.2529T>C
n.197T>C
c.12035T>C (p.Val4012Ala)
c.12311T>C (p.Val4104Ala)
c.12308T>C (p.Val4103Ala)
c.12266T>C (p.Val4089Ala)
c.12263T>C (p.Val4088Ala)
c.12260T>C (p.Val4087Ala)
c.12212T>C (p.Val4071Ala)
c.11909T>C (p.Val3970Ala)
c.12443T>C (p.Val4148Ala)
c.12440T>C (p.Val4147Ala)
c.12422T>C (p.Val4141Ala)
c.12398T>C (p.Val4133Ala)
c.12395T>C (p.Val4132Ala)
c.12392T>C (p.Val4131Ala)
c.12344T>C (p.Val4115Ala)
c.12332T>C (p.Val4111Ala)
c.12194T>C (p.Val4065Ala)
c.12041T>C (p.Val4014Ala)
Xg.53537631A>TCA413155490HUWE1c.11846T>A (p.Val3949Asp)
c.12062T>A (p.Val4021Asp)
c.2529T>A
n.197T>A
c.12035T>A (p.Val4012Asp)
c.12311T>A (p.Val4104Asp)
c.12308T>A (p.Val4103Asp)
c.12266T>A (p.Val4089Asp)
c.12263T>A (p.Val4088Asp)
c.12260T>A (p.Val4087Asp)
c.12212T>A (p.Val4071Asp)
c.11909T>A (p.Val3970Asp)
c.12443T>A (p.Val4148Asp)
c.12440T>A (p.Val4147Asp)
c.12422T>A (p.Val4141Asp)
c.12398T>A (p.Val4133Asp)
c.12395T>A (p.Val4132Asp)
c.12392T>A (p.Val4131Asp)
c.12344T>A (p.Val4115Asp)
c.12332T>A (p.Val4111Asp)
c.12194T>A (p.Val4065Asp)
c.12041T>A (p.Val4014Asp)
Xg.53537632C>ACA413155497HUWE1c.11845G>T (p.Val3949Phe)
c.12061G>T (p.Val4021Phe)
c.2528G>T
n.196G>T
c.12034G>T (p.Val4012Phe)
c.12310G>T (p.Val4104Phe)
c.12307G>T (p.Val4103Phe)
c.12265G>T (p.Val4089Phe)
c.12262G>T (p.Val4088Phe)
c.12259G>T (p.Val4087Phe)
c.12211G>T (p.Val4071Phe)
c.11908G>T (p.Val3970Phe)
c.12442G>T (p.Val4148Phe)
c.12439G>T (p.Val4147Phe)
c.12421G>T (p.Val4141Phe)
c.12397G>T (p.Val4133Phe)
c.12394G>T (p.Val4132Phe)
c.12391G>T (p.Val4131Phe)
c.12343G>T (p.Val4115Phe)
c.12331G>T (p.Val4111Phe)
c.12193G>T (p.Val4065Phe)
c.12040G>T (p.Val4014Phe)
Xg.53537632C>GCA413155501HUWE1c.11845G>C (p.Val3949Leu)
c.12061G>C (p.Val4021Leu)
c.2528G>C
n.196G>C
c.12034G>C (p.Val4012Leu)
c.12310G>C (p.Val4104Leu)
c.12307G>C (p.Val4103Leu)
c.12265G>C (p.Val4089Leu)
c.12262G>C (p.Val4088Leu)
c.12259G>C (p.Val4087Leu)
c.12211G>C (p.Val4071Leu)
c.11908G>C (p.Val3970Leu)
c.12442G>C (p.Val4148Leu)
c.12439G>C (p.Val4147Leu)
c.12421G>C (p.Val4141Leu)
c.12397G>C (p.Val4133Leu)
c.12394G>C (p.Val4132Leu)
c.12391G>C (p.Val4131Leu)
c.12343G>C (p.Val4115Leu)
c.12331G>C (p.Val4111Leu)
c.12193G>C (p.Val4065Leu)
c.12040G>C (p.Val4014Leu)
Xg.53537632C>TCA413155512HUWE1c.11845G>A (p.Val3949Ile)
c.12061G>A (p.Val4021Ile)
c.2528G>A
n.196G>A
c.12034G>A (p.Val4012Ile)
c.12310G>A (p.Val4104Ile)
c.12307G>A (p.Val4103Ile)
c.12265G>A (p.Val4089Ile)
c.12262G>A (p.Val4088Ile)
c.12259G>A (p.Val4087Ile)
c.12211G>A (p.Val4071Ile)
c.11908G>A (p.Val3970Ile)
c.12442G>A (p.Val4148Ile)
c.12439G>A (p.Val4147Ile)
c.12421G>A (p.Val4141Ile)
c.12397G>A (p.Val4133Ile)
c.12394G>A (p.Val4132Ile)
c.12391G>A (p.Val4131Ile)
c.12343G>A (p.Val4115Ile)
c.12331G>A (p.Val4111Ile)
c.12193G>A (p.Val4065Ile)
c.12040G>A (p.Val4014Ile)
 gnomAD v4
Xg.53537633A>CCA413155516HUWE1c.11844T>G (p.His3948Gln)
c.12060T>G (p.His4020Gln)
c.2527T>G
n.195T>G
c.12033T>G (p.His4011Gln)
c.12309T>G (p.His4103Gln)
c.12306T>G (p.His4102Gln)
c.12264T>G (p.His4088Gln)
c.12261T>G (p.His4087Gln)
c.12258T>G (p.His4086Gln)
c.12210T>G (p.His4070Gln)
c.11907T>G (p.His3969Gln)
c.12441T>G (p.His4147Gln)
c.12438T>G (p.His4146Gln)
c.12420T>G (p.His4140Gln)
c.12396T>G (p.His4132Gln)
c.12393T>G (p.His4131Gln)
c.12390T>G (p.His4130Gln)
c.12342T>G (p.His4114Gln)
c.12330T>G (p.His4110Gln)
c.12192T>G (p.His4064Gln)
c.12039T>G (p.His4013Gln)
Xg.53537633A>GCA516423853HUWE1c.11844T>C (p.His3948=)
c.12060T>C (p.His4020=)
c.2527T>C
n.195T>C
c.12033T>C (p.His4011=)
c.12309T>C (p.His4103=)
c.12306T>C (p.His4102=)
c.12264T>C (p.His4088=)
c.12261T>C (p.His4087=)
c.12258T>C (p.His4086=)
c.12210T>C (p.His4070=)
c.11907T>C (p.His3969=)
c.12441T>C (p.His4147=)
c.12438T>C (p.His4146=)
c.12420T>C (p.His4140=)
c.12396T>C (p.His4132=)
c.12393T>C (p.His4131=)
c.12390T>C (p.His4130=)
c.12342T>C (p.His4114=)
c.12330T>C (p.His4110=)
c.12192T>C (p.His4064=)
c.12039T>C (p.His4013=)
Xg.53537633A>TCA413155520HUWE1c.11844T>A (p.His3948Gln)
c.12060T>A (p.His4020Gln)
c.2527T>A
n.195T>A
c.12033T>A (p.His4011Gln)
c.12309T>A (p.His4103Gln)
c.12306T>A (p.His4102Gln)
c.12264T>A (p.His4088Gln)
c.12261T>A (p.His4087Gln)
c.12258T>A (p.His4086Gln)
c.12210T>A (p.His4070Gln)
c.11907T>A (p.His3969Gln)
c.12441T>A (p.His4147Gln)
c.12438T>A (p.His4146Gln)
c.12420T>A (p.His4140Gln)
c.12396T>A (p.His4132Gln)
c.12393T>A (p.His4131Gln)
c.12390T>A (p.His4130Gln)
c.12342T>A (p.His4114Gln)
c.12330T>A (p.His4110Gln)
c.12192T>A (p.His4064Gln)
c.12039T>A (p.His4013Gln)
Xg.53537634T>ACA413155542HUWE1c.11843A>T (p.His3948Leu)
c.12059A>T (p.His4020Leu)
c.2526A>T
n.194A>T
c.12032A>T (p.His4011Leu)
c.12308A>T (p.His4103Leu)
c.12305A>T (p.His4102Leu)
c.12263A>T (p.His4088Leu)
c.12260A>T (p.His4087Leu)
c.12257A>T (p.His4086Leu)
c.12209A>T (p.His4070Leu)
c.11906A>T (p.His3969Leu)
c.12440A>T (p.His4147Leu)
c.12437A>T (p.His4146Leu)
c.12419A>T (p.His4140Leu)
c.12395A>T (p.His4132Leu)
c.12392A>T (p.His4131Leu)
c.12389A>T (p.His4130Leu)
c.12341A>T (p.His4114Leu)
c.12329A>T (p.His4110Leu)
c.12191A>T (p.His4064Leu)
c.12038A>T (p.His4013Leu)
Xg.53537634T>CCA413155537HUWE1c.11843A>G (p.His3948Arg)
c.12059A>G (p.His4020Arg)
c.2526A>G
n.194A>G
c.12032A>G (p.His4011Arg)
c.12308A>G (p.His4103Arg)
c.12305A>G (p.His4102Arg)
c.12263A>G (p.His4088Arg)
c.12260A>G (p.His4087Arg)
c.12257A>G (p.His4086Arg)
c.12209A>G (p.His4070Arg)
c.11906A>G (p.His3969Arg)
c.12440A>G (p.His4147Arg)
c.12437A>G (p.His4146Arg)
c.12419A>G (p.His4140Arg)
c.12395A>G (p.His4132Arg)
c.12392A>G (p.His4131Arg)
c.12389A>G (p.His4130Arg)
c.12341A>G (p.His4114Arg)
c.12329A>G (p.His4110Arg)
c.12191A>G (p.His4064Arg)
c.12038A>G (p.His4013Arg)
Xg.53537634T>GCA413155528HUWE1c.11843A>C (p.His3948Pro)
c.12059A>C (p.His4020Pro)
c.2526A>C
n.194A>C
c.12032A>C (p.His4011Pro)
c.12308A>C (p.His4103Pro)
c.12305A>C (p.His4102Pro)
c.12263A>C (p.His4088Pro)
c.12260A>C (p.His4087Pro)
c.12257A>C (p.His4086Pro)
c.12209A>C (p.His4070Pro)
c.11906A>C (p.His3969Pro)
c.12440A>C (p.His4147Pro)
c.12437A>C (p.His4146Pro)
c.12419A>C (p.His4140Pro)
c.12395A>C (p.His4132Pro)
c.12392A>C (p.His4131Pro)
c.12389A>C (p.His4130Pro)
c.12341A>C (p.His4114Pro)
c.12329A>C (p.His4110Pro)
c.12191A>C (p.His4064Pro)
c.12038A>C (p.His4013Pro)
Xg.53537635G>ACA413155549HUWE1c.11842C>T (p.His3948Tyr)
c.12058C>T (p.His4020Tyr)
c.2525C>T
n.193C>T
c.12031C>T (p.His4011Tyr)
c.12307C>T (p.His4103Tyr)
c.12304C>T (p.His4102Tyr)
c.12262C>T (p.His4088Tyr)
c.12259C>T (p.His4087Tyr)
c.12256C>T (p.His4086Tyr)
c.12208C>T (p.His4070Tyr)
c.11905C>T (p.His3969Tyr)
c.12439C>T (p.His4147Tyr)
c.12436C>T (p.His4146Tyr)
c.12418C>T (p.His4140Tyr)
c.12394C>T (p.His4132Tyr)
c.12391C>T (p.His4131Tyr)
c.12388C>T (p.His4130Tyr)
c.12340C>T (p.His4114Tyr)
c.12328C>T (p.His4110Tyr)
c.12190C>T (p.His4064Tyr)
c.12037C>T (p.His4013Tyr)
Xg.53537635G>CCA413155556HUWE1c.11842C>G (p.His3948Asp)
c.12058C>G (p.His4020Asp)
c.2525C>G
n.193C>G
c.12031C>G (p.His4011Asp)
c.12307C>G (p.His4103Asp)
c.12304C>G (p.His4102Asp)
c.12262C>G (p.His4088Asp)
c.12259C>G (p.His4087Asp)
c.12256C>G (p.His4086Asp)
c.12208C>G (p.His4070Asp)
c.11905C>G (p.His3969Asp)
c.12439C>G (p.His4147Asp)
c.12436C>G (p.His4146Asp)
c.12418C>G (p.His4140Asp)
c.12394C>G (p.His4132Asp)
c.12391C>G (p.His4131Asp)
c.12388C>G (p.His4130Asp)
c.12340C>G (p.His4114Asp)
c.12328C>G (p.His4110Asp)
c.12190C>G (p.His4064Asp)
c.12037C>G (p.His4013Asp)
Xg.53537635G>TCA413155566HUWE1c.11842C>A (p.His3948Asn)
c.12058C>A (p.His4020Asn)
c.2525C>A
n.193C>A
c.12031C>A (p.His4011Asn)
c.12307C>A (p.His4103Asn)
c.12304C>A (p.His4102Asn)
c.12262C>A (p.His4088Asn)
c.12259C>A (p.His4087Asn)
c.12256C>A (p.His4086Asn)
c.12208C>A (p.His4070Asn)
c.11905C>A (p.His3969Asn)
c.12439C>A (p.His4147Asn)
c.12436C>A (p.His4146Asn)
c.12418C>A (p.His4140Asn)
c.12394C>A (p.His4132Asn)
c.12391C>A (p.His4131Asn)
c.12388C>A (p.His4130Asn)
c.12340C>A (p.His4114Asn)
c.12328C>A (p.His4110Asn)
c.12190C>A (p.His4064Asn)
c.12037C>A (p.His4013Asn)
Xg.53537636C>ACA329184709HUWE1c.11841G>T (p.Val3947=)
c.12057G>T (p.Val4019=)
c.2524G>T
n.192G>T
c.12030G>T (p.Val4010=)
c.12306G>T (p.Val4102=)
c.12303G>T (p.Val4101=)
c.12261G>T (p.Val4087=)
c.12258G>T (p.Val4086=)
c.12255G>T (p.Val4085=)
c.12207G>T (p.Val4069=)
c.11904G>T (p.Val3968=)
c.12438G>T (p.Val4146=)
c.12435G>T (p.Val4145=)
c.12417G>T (p.Val4139=)
c.12393G>T (p.Val4131=)
c.12390G>T (p.Val4130=)
c.12387G>T (p.Val4129=)
c.12339G>T (p.Val4113=)
c.12327G>T (p.Val4109=)
c.12189G>T (p.Val4063=)
c.12036G>T (p.Val4012=)
 dbSNP
Xg.53537636C=CA2429870464HUWE1c.11841G= (p.Val3947=)
c.12057G= (p.Val4019=)
c.2524G=
n.192G=
c.12030G= (p.Val4010=)
c.12306G= (p.Val4102=)
c.12303G= (p.Val4101=)
c.12261G= (p.Val4087=)
c.12258G= (p.Val4086=)
c.12255G= (p.Val4085=)
c.12207G= (p.Val4069=)
c.11904G= (p.Val3968=)
c.12438G= (p.Val4146=)
c.12435G= (p.Val4145=)
c.12417G= (p.Val4139=)
c.12393G= (p.Val4131=)
c.12390G= (p.Val4130=)
c.12387G= (p.Val4129=)
c.12339G= (p.Val4113=)
c.12327G= (p.Val4109=)
c.12189G= (p.Val4063=)
c.12036G= (p.Val4012=)
Xg.53537636C>GCA516423866HUWE1c.11841G>C (p.Val3947=)
c.12057G>C (p.Val4019=)
c.2524G>C
n.192G>C
c.12030G>C (p.Val4010=)
c.12306G>C (p.Val4102=)
c.12303G>C (p.Val4101=)
c.12261G>C (p.Val4087=)
c.12258G>C (p.Val4086=)
c.12255G>C (p.Val4085=)
c.12207G>C (p.Val4069=)
c.11904G>C (p.Val3968=)
c.12438G>C (p.Val4146=)
c.12435G>C (p.Val4145=)
c.12417G>C (p.Val4139=)
c.12393G>C (p.Val4131=)
c.12390G>C (p.Val4130=)
c.12387G>C (p.Val4129=)
c.12339G>C (p.Val4113=)
c.12327G>C (p.Val4109=)
c.12189G>C (p.Val4063=)
c.12036G>C (p.Val4012=)
Xg.53537636C>TCA516423868HUWE1c.11841G>A (p.Val3947=)
c.12057G>A (p.Val4019=)
c.2524G>A
n.192G>A
c.12030G>A (p.Val4010=)
c.12306G>A (p.Val4102=)
c.12303G>A (p.Val4101=)
c.12261G>A (p.Val4087=)
c.12258G>A (p.Val4086=)
c.12255G>A (p.Val4085=)
c.12207G>A (p.Val4069=)
c.11904G>A (p.Val3968=)
c.12438G>A (p.Val4146=)
c.12435G>A (p.Val4145=)
c.12417G>A (p.Val4139=)
c.12393G>A (p.Val4131=)
c.12390G>A (p.Val4130=)
c.12387G>A (p.Val4129=)
c.12339G>A (p.Val4113=)
c.12327G>A (p.Val4109=)
c.12189G>A (p.Val4063=)
c.12036G>A (p.Val4012=)
Xg.53537637A>CCA413155595HUWE1c.11840T>G (p.Val3947Gly)
c.12056T>G (p.Val4019Gly)
c.2523T>G
n.191T>G
c.12029T>G (p.Val4010Gly)
c.12305T>G (p.Val4102Gly)
c.12302T>G (p.Val4101Gly)
c.12260T>G (p.Val4087Gly)
c.12257T>G (p.Val4086Gly)
c.12254T>G (p.Val4085Gly)
c.12206T>G (p.Val4069Gly)
c.11903T>G (p.Val3968Gly)
c.12437T>G (p.Val4146Gly)
c.12434T>G (p.Val4145Gly)
c.12416T>G (p.Val4139Gly)
c.12392T>G (p.Val4131Gly)
c.12389T>G (p.Val4130Gly)
c.12386T>G (p.Val4129Gly)
c.12338T>G (p.Val4113Gly)
c.12326T>G (p.Val4109Gly)
c.12188T>G (p.Val4063Gly)
c.12035T>G (p.Val4012Gly)
Xg.53537637A>GCA413155599HUWE1c.11840T>C (p.Val3947Ala)
c.12056T>C (p.Val4019Ala)
c.2523T>C
n.191T>C
c.12029T>C (p.Val4010Ala)
c.12305T>C (p.Val4102Ala)
c.12302T>C (p.Val4101Ala)
c.12260T>C (p.Val4087Ala)
c.12257T>C (p.Val4086Ala)
c.12254T>C (p.Val4085Ala)
c.12206T>C (p.Val4069Ala)
c.11903T>C (p.Val3968Ala)
c.12437T>C (p.Val4146Ala)
c.12434T>C (p.Val4145Ala)
c.12416T>C (p.Val4139Ala)
c.12392T>C (p.Val4131Ala)
c.12389T>C (p.Val4130Ala)
c.12386T>C (p.Val4129Ala)
c.12338T>C (p.Val4113Ala)
c.12326T>C (p.Val4109Ala)
c.12188T>C (p.Val4063Ala)
c.12035T>C (p.Val4012Ala)
Xg.53537637A>TCA413155602HUWE1c.11840T>A (p.Val3947Glu)
c.12056T>A (p.Val4019Glu)
c.2523T>A
n.191T>A
c.12029T>A (p.Val4010Glu)
c.12305T>A (p.Val4102Glu)
c.12302T>A (p.Val4101Glu)
c.12260T>A (p.Val4087Glu)
c.12257T>A (p.Val4086Glu)
c.12254T>A (p.Val4085Glu)
c.12206T>A (p.Val4069Glu)
c.11903T>A (p.Val3968Glu)
c.12437T>A (p.Val4146Glu)
c.12434T>A (p.Val4145Glu)
c.12416T>A (p.Val4139Glu)
c.12392T>A (p.Val4131Glu)
c.12389T>A (p.Val4130Glu)
c.12386T>A (p.Val4129Glu)
c.12338T>A (p.Val4113Glu)
c.12326T>A (p.Val4109Glu)
c.12188T>A (p.Val4063Glu)
c.12035T>A (p.Val4012Glu)
Xg.53537638C>ACA413155603HUWE1c.11839G>T (p.Val3947Leu)
c.12055G>T (p.Val4019Leu)
c.2522G>T
n.190G>T
c.12028G>T (p.Val4010Leu)
c.12304G>T (p.Val4102Leu)
c.12301G>T (p.Val4101Leu)
c.12259G>T (p.Val4087Leu)
c.12256G>T (p.Val4086Leu)
c.12253G>T (p.Val4085Leu)
c.12205G>T (p.Val4069Leu)
c.11902G>T (p.Val3968Leu)
c.12436G>T (p.Val4146Leu)
c.12433G>T (p.Val4145Leu)
c.12415G>T (p.Val4139Leu)
c.12391G>T (p.Val4131Leu)
c.12388G>T (p.Val4130Leu)
c.12385G>T (p.Val4129Leu)
c.12337G>T (p.Val4113Leu)
c.12325G>T (p.Val4109Leu)
c.12187G>T (p.Val4063Leu)
c.12034G>T (p.Val4012Leu)
Xg.53537638C>GCA413155604HUWE1c.11839G>C (p.Val3947Leu)
c.12055G>C (p.Val4019Leu)
c.2522G>C
n.190G>C
c.12028G>C (p.Val4010Leu)
c.12304G>C (p.Val4102Leu)
c.12301G>C (p.Val4101Leu)
c.12259G>C (p.Val4087Leu)
c.12256G>C (p.Val4086Leu)
c.12253G>C (p.Val4085Leu)
c.12205G>C (p.Val4069Leu)
c.11902G>C (p.Val3968Leu)
c.12436G>C (p.Val4146Leu)
c.12433G>C (p.Val4145Leu)
c.12415G>C (p.Val4139Leu)
c.12391G>C (p.Val4131Leu)
c.12388G>C (p.Val4130Leu)
c.12385G>C (p.Val4129Leu)
c.12337G>C (p.Val4113Leu)
c.12325G>C (p.Val4109Leu)
c.12187G>C (p.Val4063Leu)
c.12034G>C (p.Val4012Leu)
Xg.53537638C>TCA413155606HUWE1c.11839G>A (p.Val3947Met)
c.12055G>A (p.Val4019Met)
c.2522G>A
n.190G>A
c.12028G>A (p.Val4010Met)
c.12304G>A (p.Val4102Met)
c.12301G>A (p.Val4101Met)
c.12259G>A (p.Val4087Met)
c.12256G>A (p.Val4086Met)
c.12253G>A (p.Val4085Met)
c.12205G>A (p.Val4069Met)
c.11902G>A (p.Val3968Met)
c.12436G>A (p.Val4146Met)
c.12433G>A (p.Val4145Met)
c.12415G>A (p.Val4139Met)
c.12391G>A (p.Val4131Met)
c.12388G>A (p.Val4130Met)
c.12385G>A (p.Val4129Met)
c.12337G>A (p.Val4113Met)
c.12325G>A (p.Val4109Met)
c.12187G>A (p.Val4063Met)
c.12034G>A (p.Val4012Met)
Xg.53537639A>CCA516423876HUWE1c.11838T>G (p.Ala3946=)
c.12054T>G (p.Ala4018=)
c.2521T>G
n.189T>G
c.12027T>G (p.Ala4009=)
c.12303T>G (p.Ala4101=)
c.12300T>G (p.Ala4100=)
c.12258T>G (p.Ala4086=)
c.12255T>G (p.Ala4085=)
c.12252T>G (p.Ala4084=)
c.12204T>G (p.Ala4068=)
c.11901T>G (p.Ala3967=)
c.12435T>G (p.Ala4145=)
c.12432T>G (p.Ala4144=)
c.12414T>G (p.Ala4138=)
c.12390T>G (p.Ala4130=)
c.12387T>G (p.Ala4129=)
c.12384T>G (p.Ala4128=)
c.12336T>G (p.Ala4112=)
c.12324T>G (p.Ala4108=)
c.12186T>G (p.Ala4062=)
c.12033T>G (p.Ala4011=)
Xg.53537639A>GCA516423878HUWE1c.11838T>C (p.Ala3946=)
c.12054T>C (p.Ala4018=)
c.2521T>C
n.189T>C
c.12027T>C (p.Ala4009=)
c.12303T>C (p.Ala4101=)
c.12300T>C (p.Ala4100=)
c.12258T>C (p.Ala4086=)
c.12255T>C (p.Ala4085=)
c.12252T>C (p.Ala4084=)
c.12204T>C (p.Ala4068=)
c.11901T>C (p.Ala3967=)
c.12435T>C (p.Ala4145=)
c.12432T>C (p.Ala4144=)
c.12414T>C (p.Ala4138=)
c.12390T>C (p.Ala4130=)
c.12387T>C (p.Ala4129=)
c.12384T>C (p.Ala4128=)
c.12336T>C (p.Ala4112=)
c.12324T>C (p.Ala4108=)
c.12186T>C (p.Ala4062=)
c.12033T>C (p.Ala4011=)
Xg.53537639A>TCA516423881HUWE1c.11838T>A (p.Ala3946=)
c.12054T>A (p.Ala4018=)
c.2521T>A
n.189T>A
c.12027T>A (p.Ala4009=)
c.12303T>A (p.Ala4101=)
c.12300T>A (p.Ala4100=)
c.12258T>A (p.Ala4086=)
c.12255T>A (p.Ala4085=)
c.12252T>A (p.Ala4084=)
c.12204T>A (p.Ala4068=)
c.11901T>A (p.Ala3967=)
c.12435T>A (p.Ala4145=)
c.12432T>A (p.Ala4144=)
c.12414T>A (p.Ala4138=)
c.12390T>A (p.Ala4130=)
c.12387T>A (p.Ala4129=)
c.12384T>A (p.Ala4128=)
c.12336T>A (p.Ala4112=)
c.12324T>A (p.Ala4108=)
c.12186T>A (p.Ala4062=)
c.12033T>A (p.Ala4011=)
Xg.53537640G>ACA413155612HUWE1c.11837C>T (p.Ala3946Val)
c.12053C>T (p.Ala4018Val)
c.2520C>T
n.188C>T
c.12026C>T (p.Ala4009Val)
c.12302C>T (p.Ala4101Val)
c.12299C>T (p.Ala4100Val)
c.12257C>T (p.Ala4086Val)
c.12254C>T (p.Ala4085Val)
c.12251C>T (p.Ala4084Val)
c.12203C>T (p.Ala4068Val)
c.11900C>T (p.Ala3967Val)
c.12434C>T (p.Ala4145Val)
c.12431C>T (p.Ala4144Val)
c.12413C>T (p.Ala4138Val)
c.12389C>T (p.Ala4130Val)
c.12386C>T (p.Ala4129Val)
c.12383C>T (p.Ala4128Val)
c.12335C>T (p.Ala4112Val)
c.12323C>T (p.Ala4108Val)
c.12185C>T (p.Ala4062Val)
c.12032C>T (p.Ala4011Val)
 gnomAD v4
Xg.53537640G>CCA413155615HUWE1c.11837C>G (p.Ala3946Gly)
c.12053C>G (p.Ala4018Gly)
c.2520C>G
n.188C>G
c.12026C>G (p.Ala4009Gly)
c.12302C>G (p.Ala4101Gly)
c.12299C>G (p.Ala4100Gly)
c.12257C>G (p.Ala4086Gly)
c.12254C>G (p.Ala4085Gly)
c.12251C>G (p.Ala4084Gly)
c.12203C>G (p.Ala4068Gly)
c.11900C>G (p.Ala3967Gly)
c.12434C>G (p.Ala4145Gly)
c.12431C>G (p.Ala4144Gly)
c.12413C>G (p.Ala4138Gly)
c.12389C>G (p.Ala4130Gly)
c.12386C>G (p.Ala4129Gly)
c.12383C>G (p.Ala4128Gly)
c.12335C>G (p.Ala4112Gly)
c.12323C>G (p.Ala4108Gly)
c.12185C>G (p.Ala4062Gly)
c.12032C>G (p.Ala4011Gly)
Xg.53537640G>TCA413155619HUWE1c.11837C>A (p.Ala3946Asp)
c.12053C>A (p.Ala4018Asp)
c.2520C>A
n.188C>A
c.12026C>A (p.Ala4009Asp)
c.12302C>A (p.Ala4101Asp)
c.12299C>A (p.Ala4100Asp)
c.12257C>A (p.Ala4086Asp)
c.12254C>A (p.Ala4085Asp)
c.12251C>A (p.Ala4084Asp)
c.12203C>A (p.Ala4068Asp)
c.11900C>A (p.Ala3967Asp)
c.12434C>A (p.Ala4145Asp)
c.12431C>A (p.Ala4144Asp)
c.12413C>A (p.Ala4138Asp)
c.12389C>A (p.Ala4130Asp)
c.12386C>A (p.Ala4129Asp)
c.12383C>A (p.Ala4128Asp)
c.12335C>A (p.Ala4112Asp)
c.12323C>A (p.Ala4108Asp)
c.12185C>A (p.Ala4062Asp)
c.12032C>A (p.Ala4011Asp)
Xg.53537641C>ACA413155632HUWE1c.11836G>T (p.Ala3946Ser)
c.12052G>T (p.Ala4018Ser)
c.2519G>T
n.187G>T
c.12025G>T (p.Ala4009Ser)
c.12301G>T (p.Ala4101Ser)
c.12298G>T (p.Ala4100Ser)
c.12256G>T (p.Ala4086Ser)
c.12253G>T (p.Ala4085Ser)
c.12250G>T (p.Ala4084Ser)
c.12202G>T (p.Ala4068Ser)
c.11899G>T (p.Ala3967Ser)
c.12433G>T (p.Ala4145Ser)
c.12430G>T (p.Ala4144Ser)
c.12412G>T (p.Ala4138Ser)
c.12388G>T (p.Ala4130Ser)
c.12385G>T (p.Ala4129Ser)
c.12382G>T (p.Ala4128Ser)
c.12334G>T (p.Ala4112Ser)
c.12322G>T (p.Ala4108Ser)
c.12184G>T (p.Ala4062Ser)
c.12031G>T (p.Ala4011Ser)
Xg.53537641C>GCA413155633HUWE1c.11836G>C (p.Ala3946Pro)
c.12052G>C (p.Ala4018Pro)
c.2519G>C
n.187G>C
c.12025G>C (p.Ala4009Pro)
c.12301G>C (p.Ala4101Pro)
c.12298G>C (p.Ala4100Pro)
c.12256G>C (p.Ala4086Pro)
c.12253G>C (p.Ala4085Pro)
c.12250G>C (p.Ala4084Pro)
c.12202G>C (p.Ala4068Pro)
c.11899G>C (p.Ala3967Pro)
c.12433G>C (p.Ala4145Pro)
c.12430G>C (p.Ala4144Pro)
c.12412G>C (p.Ala4138Pro)
c.12388G>C (p.Ala4130Pro)
c.12385G>C (p.Ala4129Pro)
c.12382G>C (p.Ala4128Pro)
c.12334G>C (p.Ala4112Pro)
c.12322G>C (p.Ala4108Pro)
c.12184G>C (p.Ala4062Pro)
c.12031G>C (p.Ala4011Pro)
Xg.53537641C>TCA413155625HUWE1c.11836G>A (p.Ala3946Thr)
c.12052G>A (p.Ala4018Thr)
c.2519G>A
n.187G>A
c.12025G>A (p.Ala4009Thr)
c.12301G>A (p.Ala4101Thr)
c.12298G>A (p.Ala4100Thr)
c.12256G>A (p.Ala4086Thr)
c.12253G>A (p.Ala4085Thr)
c.12250G>A (p.Ala4084Thr)
c.12202G>A (p.Ala4068Thr)
c.11899G>A (p.Ala3967Thr)
c.12433G>A (p.Ala4145Thr)
c.12430G>A (p.Ala4144Thr)
c.12412G>A (p.Ala4138Thr)
c.12388G>A (p.Ala4130Thr)
c.12385G>A (p.Ala4129Thr)
c.12382G>A (p.Ala4128Thr)
c.12334G>A (p.Ala4112Thr)
c.12322G>A (p.Ala4108Thr)
c.12184G>A (p.Ala4062Thr)
c.12031G>A (p.Ala4011Thr)
Xg.53537642C>ACA413155636HUWE1c.11835G>T (p.Met3945Ile)
c.12051G>T (p.Met4017Ile)
c.2518G>T
n.186G>T
c.12024G>T (p.Met4008Ile)
c.12300G>T (p.Met4100Ile)
c.12297G>T (p.Met4099Ile)
c.12255G>T (p.Met4085Ile)
c.12252G>T (p.Met4084Ile)
c.12249G>T (p.Met4083Ile)
c.12201G>T (p.Met4067Ile)
c.11898G>T (p.Met3966Ile)
c.12432G>T (p.Met4144Ile)
c.12429G>T (p.Met4143Ile)
c.12411G>T (p.Met4137Ile)
c.12387G>T (p.Met4129Ile)
c.12384G>T (p.Met4128Ile)
c.12381G>T (p.Met4127Ile)
c.12333G>T (p.Met4111Ile)
c.12321G>T (p.Met4107Ile)
c.12183G>T (p.Met4061Ile)
c.12030G>T (p.Met4010Ile)
Xg.53537642C>GCA413155639HUWE1c.11835G>C (p.Met3945Ile)
c.12051G>C (p.Met4017Ile)
c.2518G>C
n.186G>C
c.12024G>C (p.Met4008Ile)
c.12300G>C (p.Met4100Ile)
c.12297G>C (p.Met4099Ile)
c.12255G>C (p.Met4085Ile)
c.12252G>C (p.Met4084Ile)
c.12249G>C (p.Met4083Ile)
c.12201G>C (p.Met4067Ile)
c.11898G>C (p.Met3966Ile)
c.12432G>C (p.Met4144Ile)
c.12429G>C (p.Met4143Ile)
c.12411G>C (p.Met4137Ile)
c.12387G>C (p.Met4129Ile)
c.12384G>C (p.Met4128Ile)
c.12381G>C (p.Met4127Ile)
c.12333G>C (p.Met4111Ile)
c.12321G>C (p.Met4107Ile)
c.12183G>C (p.Met4061Ile)
c.12030G>C (p.Met4010Ile)
Xg.53537642C>TCA413155643HUWE1c.11835G>A (p.Met3945Ile)
c.12051G>A (p.Met4017Ile)
c.2518G>A
n.186G>A
c.12024G>A (p.Met4008Ile)
c.12300G>A (p.Met4100Ile)
c.12297G>A (p.Met4099Ile)
c.12255G>A (p.Met4085Ile)
c.12252G>A (p.Met4084Ile)
c.12249G>A (p.Met4083Ile)
c.12201G>A (p.Met4067Ile)
c.11898G>A (p.Met3966Ile)
c.12432G>A (p.Met4144Ile)
c.12429G>A (p.Met4143Ile)
c.12411G>A (p.Met4137Ile)
c.12387G>A (p.Met4129Ile)
c.12384G>A (p.Met4128Ile)
c.12381G>A (p.Met4127Ile)
c.12333G>A (p.Met4111Ile)
c.12321G>A (p.Met4107Ile)
c.12183G>A (p.Met4061Ile)
c.12030G>A (p.Met4010Ile)
Xg.53537643A>CCA413155650HUWE1c.11834T>G (p.Met3945Arg)
c.12050T>G (p.Met4017Arg)
c.2517T>G
n.185T>G
c.12023T>G (p.Met4008Arg)
c.12299T>G (p.Met4100Arg)
c.12296T>G (p.Met4099Arg)
c.12254T>G (p.Met4085Arg)
c.12251T>G (p.Met4084Arg)
c.12248T>G (p.Met4083Arg)
c.12200T>G (p.Met4067Arg)
c.11897T>G (p.Met3966Arg)
c.12431T>G (p.Met4144Arg)
c.12428T>G (p.Met4143Arg)
c.12410T>G (p.Met4137Arg)
c.12386T>G (p.Met4129Arg)
c.12383T>G (p.Met4128Arg)
c.12380T>G (p.Met4127Arg)
c.12332T>G (p.Met4111Arg)
c.12320T>G (p.Met4107Arg)
c.12182T>G (p.Met4061Arg)
c.12029T>G (p.Met4010Arg)
Xg.53537643A>GCA413155654HUWE1c.11834T>C (p.Met3945Thr)
c.12050T>C (p.Met4017Thr)
c.2517T>C
n.185T>C
c.12023T>C (p.Met4008Thr)
c.12299T>C (p.Met4100Thr)
c.12296T>C (p.Met4099Thr)
c.12254T>C (p.Met4085Thr)
c.12251T>C (p.Met4084Thr)
c.12248T>C (p.Met4083Thr)
c.12200T>C (p.Met4067Thr)
c.11897T>C (p.Met3966Thr)
c.12431T>C (p.Met4144Thr)
c.12428T>C (p.Met4143Thr)
c.12410T>C (p.Met4137Thr)
c.12386T>C (p.Met4129Thr)
c.12383T>C (p.Met4128Thr)
c.12380T>C (p.Met4127Thr)
c.12332T>C (p.Met4111Thr)
c.12320T>C (p.Met4107Thr)
c.12182T>C (p.Met4061Thr)
c.12029T>C (p.Met4010Thr)
Xg.53537643A>TCA413155661HUWE1c.11834T>A (p.Met3945Lys)
c.12050T>A (p.Met4017Lys)
c.2517T>A
n.185T>A
c.12023T>A (p.Met4008Lys)
c.12299T>A (p.Met4100Lys)
c.12296T>A (p.Met4099Lys)
c.12254T>A (p.Met4085Lys)
c.12251T>A (p.Met4084Lys)
c.12248T>A (p.Met4083Lys)
c.12200T>A (p.Met4067Lys)
c.11897T>A (p.Met3966Lys)
c.12431T>A (p.Met4144Lys)
c.12428T>A (p.Met4143Lys)
c.12410T>A (p.Met4137Lys)
c.12386T>A (p.Met4129Lys)
c.12383T>A (p.Met4128Lys)
c.12380T>A (p.Met4127Lys)
c.12332T>A (p.Met4111Lys)
c.12320T>A (p.Met4107Lys)
c.12182T>A (p.Met4061Lys)
c.12029T>A (p.Met4010Lys)
Xg.53537644T>ACA413155685HUWE1c.11833A>T (p.Met3945Leu)
c.12049A>T (p.Met4017Leu)
c.2516A>T
n.184A>T
c.12022A>T (p.Met4008Leu)
c.12298A>T (p.Met4100Leu)
c.12295A>T (p.Met4099Leu)
c.12253A>T (p.Met4085Leu)
c.12250A>T (p.Met4084Leu)
c.12247A>T (p.Met4083Leu)
c.12199A>T (p.Met4067Leu)
c.11896A>T (p.Met3966Leu)
c.12430A>T (p.Met4144Leu)
c.12427A>T (p.Met4143Leu)
c.12409A>T (p.Met4137Leu)
c.12385A>T (p.Met4129Leu)
c.12382A>T (p.Met4128Leu)
c.12379A>T (p.Met4127Leu)
c.12331A>T (p.Met4111Leu)
c.12319A>T (p.Met4107Leu)
c.12181A>T (p.Met4061Leu)
c.12028A>T (p.Met4010Leu)
Xg.53537644T>CCA413155670HUWE1c.11833A>G (p.Met3945Val)
c.12049A>G (p.Met4017Val)
c.2516A>G
n.184A>G
c.12022A>G (p.Met4008Val)
c.12298A>G (p.Met4100Val)
c.12295A>G (p.Met4099Val)
c.12253A>G (p.Met4085Val)
c.12250A>G (p.Met4084Val)
c.12247A>G (p.Met4083Val)
c.12199A>G (p.Met4067Val)
c.11896A>G (p.Met3966Val)
c.12430A>G (p.Met4144Val)
c.12427A>G (p.Met4143Val)
c.12409A>G (p.Met4137Val)
c.12385A>G (p.Met4129Val)
c.12382A>G (p.Met4128Val)
c.12379A>G (p.Met4127Val)
c.12331A>G (p.Met4111Val)
c.12319A>G (p.Met4107Val)
c.12181A>G (p.Met4061Val)
c.12028A>G (p.Met4010Val)
 gnomAD v4
Xg.53537644T>GCA413155681HUWE1c.11833A>C (p.Met3945Leu)
c.12049A>C (p.Met4017Leu)
c.2516A>C
n.184A>C
c.12022A>C (p.Met4008Leu)
c.12298A>C (p.Met4100Leu)
c.12295A>C (p.Met4099Leu)
c.12253A>C (p.Met4085Leu)
c.12250A>C (p.Met4084Leu)
c.12247A>C (p.Met4083Leu)
c.12199A>C (p.Met4067Leu)
c.11896A>C (p.Met3966Leu)
c.12430A>C (p.Met4144Leu)
c.12427A>C (p.Met4143Leu)
c.12409A>C (p.Met4137Leu)
c.12385A>C (p.Met4129Leu)
c.12382A>C (p.Met4128Leu)
c.12379A>C (p.Met4127Leu)
c.12331A>C (p.Met4111Leu)
c.12319A>C (p.Met4107Leu)
c.12181A>C (p.Met4061Leu)
c.12028A>C (p.Met4010Leu)
Xg.53537645G>ACA516423901HUWE1c.11832C>T (p.Asp3944=)
c.12048C>T (p.Asp4016=)
c.2515C>T
n.183C>T
c.12021C>T (p.Asp4007=)
c.12297C>T (p.Asp4099=)
c.12294C>T (p.Asp4098=)
c.12252C>T (p.Asp4084=)
c.12249C>T (p.Asp4083=)
c.12246C>T (p.Asp4082=)
c.12198C>T (p.Asp4066=)
c.11895C>T (p.Asp3965=)
c.12429C>T (p.Asp4143=)
c.12426C>T (p.Asp4142=)
c.12408C>T (p.Asp4136=)
c.12384C>T (p.Asp4128=)
c.12381C>T (p.Asp4127=)
c.12378C>T (p.Asp4126=)
c.12330C>T (p.Asp4110=)
c.12318C>T (p.Asp4106=)
c.12180C>T (p.Asp4060=)
c.12027C>T (p.Asp4009=)
Xg.53537645G>CCA413155690HUWE1c.11832C>G (p.Asp3944Glu)
c.12048C>G (p.Asp4016Glu)
c.2515C>G
n.183C>G
c.12021C>G (p.Asp4007Glu)
c.12297C>G (p.Asp4099Glu)
c.12294C>G (p.Asp4098Glu)
c.12252C>G (p.Asp4084Glu)
c.12249C>G (p.Asp4083Glu)
c.12246C>G (p.Asp4082Glu)
c.12198C>G (p.Asp4066Glu)
c.11895C>G (p.Asp3965Glu)
c.12429C>G (p.Asp4143Glu)
c.12426C>G (p.Asp4142Glu)
c.12408C>G (p.Asp4136Glu)
c.12384C>G (p.Asp4128Glu)
c.12381C>G (p.Asp4127Glu)
c.12378C>G (p.Asp4126Glu)
c.12330C>G (p.Asp4110Glu)
c.12318C>G (p.Asp4106Glu)
c.12180C>G (p.Asp4060Glu)
c.12027C>G (p.Asp4009Glu)
Xg.53537645G>TCA413155692HUWE1c.11832C>A (p.Asp3944Glu)
c.12048C>A (p.Asp4016Glu)
c.2515C>A
n.183C>A
c.12021C>A (p.Asp4007Glu)
c.12297C>A (p.Asp4099Glu)
c.12294C>A (p.Asp4098Glu)
c.12252C>A (p.Asp4084Glu)
c.12249C>A (p.Asp4083Glu)
c.12246C>A (p.Asp4082Glu)
c.12198C>A (p.Asp4066Glu)
c.11895C>A (p.Asp3965Glu)
c.12429C>A (p.Asp4143Glu)
c.12426C>A (p.Asp4142Glu)
c.12408C>A (p.Asp4136Glu)
c.12384C>A (p.Asp4128Glu)
c.12381C>A (p.Asp4127Glu)
c.12378C>A (p.Asp4126Glu)
c.12330C>A (p.Asp4110Glu)
c.12318C>A (p.Asp4106Glu)
c.12180C>A (p.Asp4060Glu)
c.12027C>A (p.Asp4009Glu)
 gnomAD v4
Xg.53537646T>ACA413155700HUWE1c.11831A>T (p.Asp3944Val)
c.12047A>T (p.Asp4016Val)
c.2514A>T
n.182A>T
c.12020A>T (p.Asp4007Val)
c.12296A>T (p.Asp4099Val)
c.12293A>T (p.Asp4098Val)
c.12251A>T (p.Asp4084Val)
c.12248A>T (p.Asp4083Val)
c.12245A>T (p.Asp4082Val)
c.12197A>T (p.Asp4066Val)
c.11894A>T (p.Asp3965Val)
c.12428A>T (p.Asp4143Val)
c.12425A>T (p.Asp4142Val)
c.12407A>T (p.Asp4136Val)
c.12383A>T (p.Asp4128Val)
c.12380A>T (p.Asp4127Val)
c.12377A>T (p.Asp4126Val)
c.12329A>T (p.Asp4110Val)
c.12317A>T (p.Asp4106Val)
c.12179A>T (p.Asp4060Val)
c.12026A>T (p.Asp4009Val)
Xg.53537646T>CCA413155703HUWE1c.11831A>G (p.Asp3944Gly)
c.12047A>G (p.Asp4016Gly)
c.2514A>G
n.182A>G
c.12020A>G (p.Asp4007Gly)
c.12296A>G (p.Asp4099Gly)
c.12293A>G (p.Asp4098Gly)
c.12251A>G (p.Asp4084Gly)
c.12248A>G (p.Asp4083Gly)
c.12245A>G (p.Asp4082Gly)
c.12197A>G (p.Asp4066Gly)
c.11894A>G (p.Asp3965Gly)
c.12428A>G (p.Asp4143Gly)
c.12425A>G (p.Asp4142Gly)
c.12407A>G (p.Asp4136Gly)
c.12383A>G (p.Asp4128Gly)
c.12380A>G (p.Asp4127Gly)
c.12377A>G (p.Asp4126Gly)
c.12329A>G (p.Asp4110Gly)
c.12317A>G (p.Asp4106Gly)
c.12179A>G (p.Asp4060Gly)
c.12026A>G (p.Asp4009Gly)
Xg.53537646T>GCA413155707HUWE1c.11831A>C (p.Asp3944Ala)
c.12047A>C (p.Asp4016Ala)
c.2514A>C
n.182A>C
c.12020A>C (p.Asp4007Ala)
c.12296A>C (p.Asp4099Ala)
c.12293A>C (p.Asp4098Ala)
c.12251A>C (p.Asp4084Ala)
c.12248A>C (p.Asp4083Ala)
c.12245A>C (p.Asp4082Ala)
c.12197A>C (p.Asp4066Ala)
c.11894A>C (p.Asp3965Ala)
c.12428A>C (p.Asp4143Ala)
c.12425A>C (p.Asp4142Ala)
c.12407A>C (p.Asp4136Ala)
c.12383A>C (p.Asp4128Ala)
c.12380A>C (p.Asp4127Ala)
c.12377A>C (p.Asp4126Ala)
c.12329A>C (p.Asp4110Ala)
c.12317A>C (p.Asp4106Ala)
c.12179A>C (p.Asp4060Ala)
c.12026A>C (p.Asp4009Ala)
Xg.53537647C>ACA413155731HUWE1c.11830G>T (p.Asp3944Tyr)
c.12046G>T (p.Asp4016Tyr)
c.2513G>T
n.181G>T
c.12019G>T (p.Asp4007Tyr)
c.12295G>T (p.Asp4099Tyr)
c.12292G>T (p.Asp4098Tyr)
c.12250G>T (p.Asp4084Tyr)
c.12247G>T (p.Asp4083Tyr)
c.12244G>T (p.Asp4082Tyr)
c.12196G>T (p.Asp4066Tyr)
c.11893G>T (p.Asp3965Tyr)
c.12427G>T (p.Asp4143Tyr)
c.12424G>T (p.Asp4142Tyr)
c.12406G>T (p.Asp4136Tyr)
c.12382G>T (p.Asp4128Tyr)
c.12379G>T (p.Asp4127Tyr)
c.12376G>T (p.Asp4126Tyr)
c.12328G>T (p.Asp4110Tyr)
c.12316G>T (p.Asp4106Tyr)
c.12178G>T (p.Asp4060Tyr)
c.12025G>T (p.Asp4009Tyr)
Xg.53537647C>GCA413155712HUWE1c.11830G>C (p.Asp3944His)
c.12046G>C (p.Asp4016His)
c.2513G>C
n.181G>C
c.12019G>C (p.Asp4007His)
c.12295G>C (p.Asp4099His)
c.12292G>C (p.Asp4098His)
c.12250G>C (p.Asp4084His)
c.12247G>C (p.Asp4083His)
c.12244G>C (p.Asp4082His)
c.12196G>C (p.Asp4066His)
c.11893G>C (p.Asp3965His)
c.12427G>C (p.Asp4143His)
c.12424G>C (p.Asp4142His)
c.12406G>C (p.Asp4136His)
c.12382G>C (p.Asp4128His)
c.12379G>C (p.Asp4127His)
c.12376G>C (p.Asp4126His)
c.12328G>C (p.Asp4110His)
c.12316G>C (p.Asp4106His)
c.12178G>C (p.Asp4060His)
c.12025G>C (p.Asp4009His)
Xg.53537647C>TCA413155727HUWE1c.11830G>A (p.Asp3944Asn)
c.12046G>A (p.Asp4016Asn)
c.2513G>A
n.181G>A
c.12019G>A (p.Asp4007Asn)
c.12295G>A (p.Asp4099Asn)
c.12292G>A (p.Asp4098Asn)
c.12250G>A (p.Asp4084Asn)
c.12247G>A (p.Asp4083Asn)
c.12244G>A (p.Asp4082Asn)
c.12196G>A (p.Asp4066Asn)
c.11893G>A (p.Asp3965Asn)
c.12427G>A (p.Asp4143Asn)
c.12424G>A (p.Asp4142Asn)
c.12406G>A (p.Asp4136Asn)
c.12382G>A (p.Asp4128Asn)
c.12379G>A (p.Asp4127Asn)
c.12376G>A (p.Asp4126Asn)
c.12328G>A (p.Asp4110Asn)
c.12316G>A (p.Asp4106Asn)
c.12178G>A (p.Asp4060Asn)
c.12025G>A (p.Asp4009Asn)
Xg.53537648T>ACA413155732HUWE1c.11829A>T (p.Glu3943Asp)
c.12045A>T (p.Glu4015Asp)
c.2512A>T
n.180A>T
c.12018A>T (p.Glu4006Asp)
c.12294A>T (p.Glu4098Asp)
c.12291A>T (p.Glu4097Asp)
c.12249A>T (p.Glu4083Asp)
c.12246A>T (p.Glu4082Asp)
c.12243A>T (p.Glu4081Asp)
c.12195A>T (p.Glu4065Asp)
c.11892A>T (p.Glu3964Asp)
c.12426A>T (p.Glu4142Asp)
c.12423A>T (p.Glu4141Asp)
c.12405A>T (p.Glu4135Asp)
c.12381A>T (p.Glu4127Asp)
c.12378A>T (p.Glu4126Asp)
c.12375A>T (p.Glu4125Asp)
c.12327A>T (p.Glu4109Asp)
c.12315A>T (p.Glu4105Asp)
c.12177A>T (p.Glu4059Asp)
c.12024A>T (p.Glu4008Asp)
Xg.53537648T>CCA516423910HUWE1c.11829A>G (p.Glu3943=)
c.12045A>G (p.Glu4015=)
c.2512A>G
n.180A>G
c.12018A>G (p.Glu4006=)
c.12294A>G (p.Glu4098=)
c.12291A>G (p.Glu4097=)
c.12249A>G (p.Glu4083=)
c.12246A>G (p.Glu4082=)
c.12243A>G (p.Glu4081=)
c.12195A>G (p.Glu4065=)
c.11892A>G (p.Glu3964=)
c.12426A>G (p.Glu4142=)
c.12423A>G (p.Glu4141=)
c.12405A>G (p.Glu4135=)
c.12381A>G (p.Glu4127=)
c.12378A>G (p.Glu4126=)
c.12375A>G (p.Glu4125=)
c.12327A>G (p.Glu4109=)
c.12315A>G (p.Glu4105=)
c.12177A>G (p.Glu4059=)
c.12024A>G (p.Glu4008=)
Xg.53537648T>GCA413155733HUWE1c.11829A>C (p.Glu3943Asp)
c.12045A>C (p.Glu4015Asp)
c.2512A>C
n.180A>C
c.12018A>C (p.Glu4006Asp)
c.12294A>C (p.Glu4098Asp)
c.12291A>C (p.Glu4097Asp)
c.12249A>C (p.Glu4083Asp)
c.12246A>C (p.Glu4082Asp)
c.12243A>C (p.Glu4081Asp)
c.12195A>C (p.Glu4065Asp)
c.11892A>C (p.Glu3964Asp)
c.12426A>C (p.Glu4142Asp)
c.12423A>C (p.Glu4141Asp)
c.12405A>C (p.Glu4135Asp)
c.12381A>C (p.Glu4127Asp)
c.12378A>C (p.Glu4126Asp)
c.12375A>C (p.Glu4125Asp)
c.12327A>C (p.Glu4109Asp)
c.12315A>C (p.Glu4105Asp)
c.12177A>C (p.Glu4059Asp)
c.12024A>C (p.Glu4008Asp)
Xg.53537649T>ACA413155743HUWE1c.11828A>T (p.Glu3943Val)
c.12044A>T (p.Glu4015Val)
c.2511A>T
n.179A>T
c.12017A>T (p.Glu4006Val)
c.12293A>T (p.Glu4098Val)
c.12290A>T (p.Glu4097Val)
c.12248A>T (p.Glu4083Val)
c.12245A>T (p.Glu4082Val)
c.12242A>T (p.Glu4081Val)
c.12194A>T (p.Glu4065Val)
c.11891A>T (p.Glu3964Val)
c.12425A>T (p.Glu4142Val)
c.12422A>T (p.Glu4141Val)
c.12404A>T (p.Glu4135Val)
c.12380A>T (p.Glu4127Val)
c.12377A>T (p.Glu4126Val)
c.12374A>T (p.Glu4125Val)
c.12326A>T (p.Glu4109Val)
c.12314A>T (p.Glu4105Val)
c.12176A>T (p.Glu4059Val)
c.12023A>T (p.Glu4008Val)
Xg.53537649T>CCA413155746HUWE1c.11828A>G (p.Glu3943Gly)
c.12044A>G (p.Glu4015Gly)
c.2511A>G
n.179A>G
c.12017A>G (p.Glu4006Gly)
c.12293A>G (p.Glu4098Gly)
c.12290A>G (p.Glu4097Gly)
c.12248A>G (p.Glu4083Gly)
c.12245A>G (p.Glu4082Gly)
c.12242A>G (p.Glu4081Gly)
c.12194A>G (p.Glu4065Gly)
c.11891A>G (p.Glu3964Gly)
c.12425A>G (p.Glu4142Gly)
c.12422A>G (p.Glu4141Gly)
c.12404A>G (p.Glu4135Gly)
c.12380A>G (p.Glu4127Gly)
c.12377A>G (p.Glu4126Gly)
c.12374A>G (p.Glu4125Gly)
c.12326A>G (p.Glu4109Gly)
c.12314A>G (p.Glu4105Gly)
c.12176A>G (p.Glu4059Gly)
c.12023A>G (p.Glu4008Gly)
Xg.53537649T>GCA413155751HUWE1c.11828A>C (p.Glu3943Ala)
c.12044A>C (p.Glu4015Ala)
c.2511A>C
n.179A>C
c.12017A>C (p.Glu4006Ala)
c.12293A>C (p.Glu4098Ala)
c.12290A>C (p.Glu4097Ala)
c.12248A>C (p.Glu4083Ala)
c.12245A>C (p.Glu4082Ala)
c.12242A>C (p.Glu4081Ala)
c.12194A>C (p.Glu4065Ala)
c.11891A>C (p.Glu3964Ala)
c.12425A>C (p.Glu4142Ala)
c.12422A>C (p.Glu4141Ala)
c.12404A>C (p.Glu4135Ala)
c.12380A>C (p.Glu4127Ala)
c.12377A>C (p.Glu4126Ala)
c.12374A>C (p.Glu4125Ala)
c.12326A>C (p.Glu4109Ala)
c.12314A>C (p.Glu4105Ala)
c.12176A>C (p.Glu4059Ala)
c.12023A>C (p.Glu4008Ala)
Xg.53537650C>ACA413155754HUWE1c.11827G>T (p.Glu3943Ter)
c.12043G>T (p.Glu4015Ter)
c.2510G>T
n.178G>T
c.12016G>T (p.Glu4006Ter)
c.12292G>T (p.Glu4098Ter)
c.12289G>T (p.Glu4097Ter)
c.12247G>T (p.Glu4083Ter)
c.12244G>T (p.Glu4082Ter)
c.12241G>T (p.Glu4081Ter)
c.12193G>T (p.Glu4065Ter)
c.11890G>T (p.Glu3964Ter)
c.12424G>T (p.Glu4142Ter)
c.12421G>T (p.Glu4141Ter)
c.12403G>T (p.Glu4135Ter)
c.12379G>T (p.Glu4127Ter)
c.12376G>T (p.Glu4126Ter)
c.12373G>T (p.Glu4125Ter)
c.12325G>T (p.Glu4109Ter)
c.12313G>T (p.Glu4105Ter)
c.12175G>T (p.Glu4059Ter)
c.12022G>T (p.Glu4008Ter)
Xg.53537650C>GCA413155757HUWE1c.11827G>C (p.Glu3943Gln)
c.12043G>C (p.Glu4015Gln)
c.2510G>C
n.178G>C
c.12016G>C (p.Glu4006Gln)
c.12292G>C (p.Glu4098Gln)
c.12289G>C (p.Glu4097Gln)
c.12247G>C (p.Glu4083Gln)
c.12244G>C (p.Glu4082Gln)
c.12241G>C (p.Glu4081Gln)
c.12193G>C (p.Glu4065Gln)
c.11890G>C (p.Glu3964Gln)
c.12424G>C (p.Glu4142Gln)
c.12421G>C (p.Glu4141Gln)
c.12403G>C (p.Glu4135Gln)
c.12379G>C (p.Glu4127Gln)
c.12376G>C (p.Glu4126Gln)
c.12373G>C (p.Glu4125Gln)
c.12325G>C (p.Glu4109Gln)
c.12313G>C (p.Glu4105Gln)
c.12175G>C (p.Glu4059Gln)
c.12022G>C (p.Glu4008Gln)
Xg.53537650C>TCA413155761HUWE1c.11827G>A (p.Glu3943Lys)
c.12043G>A (p.Glu4015Lys)
c.2510G>A
n.178G>A
c.12016G>A (p.Glu4006Lys)
c.12292G>A (p.Glu4098Lys)
c.12289G>A (p.Glu4097Lys)
c.12247G>A (p.Glu4083Lys)
c.12244G>A (p.Glu4082Lys)
c.12241G>A (p.Glu4081Lys)
c.12193G>A (p.Glu4065Lys)
c.11890G>A (p.Glu3964Lys)
c.12424G>A (p.Glu4142Lys)
c.12421G>A (p.Glu4141Lys)
c.12403G>A (p.Glu4135Lys)
c.12379G>A (p.Glu4127Lys)
c.12376G>A (p.Glu4126Lys)
c.12373G>A (p.Glu4125Lys)
c.12325G>A (p.Glu4109Lys)
c.12313G>A (p.Glu4105Lys)
c.12175G>A (p.Glu4059Lys)
c.12022G>A (p.Glu4008Lys)
Xg.53537651T>ACA413155766HUWE1c.11826A>T (p.Lys3942Asn)
c.12042A>T (p.Lys4014Asn)
c.2509A>T
n.177A>T
c.12015A>T (p.Lys4005Asn)
c.12291A>T (p.Lys4097Asn)
c.12288A>T (p.Lys4096Asn)
c.12246A>T (p.Lys4082Asn)
c.12243A>T (p.Lys4081Asn)
c.12240A>T (p.Lys4080Asn)
c.12192A>T (p.Lys4064Asn)
c.11889A>T (p.Lys3963Asn)
c.12423A>T (p.Lys4141Asn)
c.12420A>T (p.Lys4140Asn)
c.12402A>T (p.Lys4134Asn)
c.12378A>T (p.Lys4126Asn)
c.12375A>T (p.Lys4125Asn)
c.12372A>T (p.Lys4124Asn)
c.12324A>T (p.Lys4108Asn)
c.12312A>T (p.Lys4104Asn)
c.12174A>T (p.Lys4058Asn)
c.12021A>T (p.Lys4007Asn)
Xg.53537651T>CCA516423923HUWE1c.11826A>G (p.Lys3942=)
c.12042A>G (p.Lys4014=)
c.2509A>G
n.177A>G
c.12015A>G (p.Lys4005=)
c.12291A>G (p.Lys4097=)
c.12288A>G (p.Lys4096=)
c.12246A>G (p.Lys4082=)
c.12243A>G (p.Lys4081=)
c.12240A>G (p.Lys4080=)
c.12192A>G (p.Lys4064=)
c.11889A>G (p.Lys3963=)
c.12423A>G (p.Lys4141=)
c.12420A>G (p.Lys4140=)
c.12402A>G (p.Lys4134=)
c.12378A>G (p.Lys4126=)
c.12375A>G (p.Lys4125=)
c.12372A>G (p.Lys4124=)
c.12324A>G (p.Lys4108=)
c.12312A>G (p.Lys4104=)
c.12174A>G (p.Lys4058=)
c.12021A>G (p.Lys4007=)
Xg.53537651T>GCA413155769HUWE1c.11826A>C (p.Lys3942Asn)
c.12042A>C (p.Lys4014Asn)
c.2509A>C
n.177A>C
c.12015A>C (p.Lys4005Asn)
c.12291A>C (p.Lys4097Asn)
c.12288A>C (p.Lys4096Asn)
c.12246A>C (p.Lys4082Asn)
c.12243A>C (p.Lys4081Asn)
c.12240A>C (p.Lys4080Asn)
c.12192A>C (p.Lys4064Asn)
c.11889A>C (p.Lys3963Asn)
c.12423A>C (p.Lys4141Asn)
c.12420A>C (p.Lys4140Asn)
c.12402A>C (p.Lys4134Asn)
c.12378A>C (p.Lys4126Asn)
c.12375A>C (p.Lys4125Asn)
c.12372A>C (p.Lys4124Asn)
c.12324A>C (p.Lys4108Asn)
c.12312A>C (p.Lys4104Asn)
c.12174A>C (p.Lys4058Asn)
c.12021A>C (p.Lys4007Asn)
Xg.53537652T>ACA413155778HUWE1c.11825A>T (p.Lys3942Ile)
c.12041A>T (p.Lys4014Ile)
c.2508A>T
n.176A>T
c.12014A>T (p.Lys4005Ile)
c.12290A>T (p.Lys4097Ile)
c.12287A>T (p.Lys4096Ile)
c.12245A>T (p.Lys4082Ile)
c.12242A>T (p.Lys4081Ile)
c.12239A>T (p.Lys4080Ile)
c.12191A>T (p.Lys4064Ile)
c.11888A>T (p.Lys3963Ile)
c.12422A>T (p.Lys4141Ile)
c.12419A>T (p.Lys4140Ile)
c.12401A>T (p.Lys4134Ile)
c.12377A>T (p.Lys4126Ile)
c.12374A>T (p.Lys4125Ile)
c.12371A>T (p.Lys4124Ile)
c.12323A>T (p.Lys4108Ile)
c.12311A>T (p.Lys4104Ile)
c.12173A>T (p.Lys4058Ile)
c.12020A>T (p.Lys4007Ile)
Xg.53537652T>CCA413155779HUWE1c.11825A>G (p.Lys3942Arg)
c.12041A>G (p.Lys4014Arg)
c.2508A>G
n.176A>G
c.12014A>G (p.Lys4005Arg)
c.12290A>G (p.Lys4097Arg)
c.12287A>G (p.Lys4096Arg)
c.12245A>G (p.Lys4082Arg)
c.12242A>G (p.Lys4081Arg)
c.12239A>G (p.Lys4080Arg)
c.12191A>G (p.Lys4064Arg)
c.11888A>G (p.Lys3963Arg)
c.12422A>G (p.Lys4141Arg)
c.12419A>G (p.Lys4140Arg)
c.12401A>G (p.Lys4134Arg)
c.12377A>G (p.Lys4126Arg)
c.12374A>G (p.Lys4125Arg)
c.12371A>G (p.Lys4124Arg)
c.12323A>G (p.Lys4108Arg)
c.12311A>G (p.Lys4104Arg)
c.12173A>G (p.Lys4058Arg)
c.12020A>G (p.Lys4007Arg)
Xg.53537652T>GCA413155780HUWE1c.11825A>C (p.Lys3942Thr)
c.12041A>C (p.Lys4014Thr)
c.2508A>C
n.176A>C
c.12014A>C (p.Lys4005Thr)
c.12290A>C (p.Lys4097Thr)
c.12287A>C (p.Lys4096Thr)
c.12245A>C (p.Lys4082Thr)
c.12242A>C (p.Lys4081Thr)
c.12239A>C (p.Lys4080Thr)
c.12191A>C (p.Lys4064Thr)
c.11888A>C (p.Lys3963Thr)
c.12422A>C (p.Lys4141Thr)
c.12419A>C (p.Lys4140Thr)
c.12401A>C (p.Lys4134Thr)
c.12377A>C (p.Lys4126Thr)
c.12374A>C (p.Lys4125Thr)
c.12371A>C (p.Lys4124Thr)
c.12323A>C (p.Lys4108Thr)
c.12311A>C (p.Lys4104Thr)
c.12173A>C (p.Lys4058Thr)
c.12020A>C (p.Lys4007Thr)
Xg.53537653T>ACA413155782HUWE1c.11824A>T (p.Lys3942Ter)
c.12040A>T (p.Lys4014Ter)
c.2507A>T
n.175A>T
c.12013A>T (p.Lys4005Ter)
c.12289A>T (p.Lys4097Ter)
c.12286A>T (p.Lys4096Ter)
c.12244A>T (p.Lys4082Ter)
c.12241A>T (p.Lys4081Ter)
c.12238A>T (p.Lys4080Ter)
c.12190A>T (p.Lys4064Ter)
c.11887A>T (p.Lys3963Ter)
c.12421A>T (p.Lys4141Ter)
c.12418A>T (p.Lys4140Ter)
c.12400A>T (p.Lys4134Ter)
c.12376A>T (p.Lys4126Ter)
c.12373A>T (p.Lys4125Ter)
c.12370A>T (p.Lys4124Ter)
c.12322A>T (p.Lys4108Ter)
c.12310A>T (p.Lys4104Ter)
c.12172A>T (p.Lys4058Ter)
c.12019A>T (p.Lys4007Ter)
Xg.53537653T>CCA413155789HUWE1c.11824A>G (p.Lys3942Glu)
c.12040A>G (p.Lys4014Glu)
c.2507A>G
n.175A>G
c.12013A>G (p.Lys4005Glu)
c.12289A>G (p.Lys4097Glu)
c.12286A>G (p.Lys4096Glu)
c.12244A>G (p.Lys4082Glu)
c.12241A>G (p.Lys4081Glu)
c.12238A>G (p.Lys4080Glu)
c.12190A>G (p.Lys4064Glu)
c.11887A>G (p.Lys3963Glu)
c.12421A>G (p.Lys4141Glu)
c.12418A>G (p.Lys4140Glu)
c.12400A>G (p.Lys4134Glu)
c.12376A>G (p.Lys4126Glu)
c.12373A>G (p.Lys4125Glu)
c.12370A>G (p.Lys4124Glu)
c.12322A>G (p.Lys4108Glu)
c.12310A>G (p.Lys4104Glu)
c.12172A>G (p.Lys4058Glu)
c.12019A>G (p.Lys4007Glu)
Xg.53537653T>GCA413155785HUWE1c.11824A>C (p.Lys3942Gln)
c.12040A>C (p.Lys4014Gln)
c.2507A>C
n.175A>C
c.12013A>C (p.Lys4005Gln)
c.12289A>C (p.Lys4097Gln)
c.12286A>C (p.Lys4096Gln)
c.12244A>C (p.Lys4082Gln)
c.12241A>C (p.Lys4081Gln)
c.12238A>C (p.Lys4080Gln)
c.12190A>C (p.Lys4064Gln)
c.11887A>C (p.Lys3963Gln)
c.12421A>C (p.Lys4141Gln)
c.12418A>C (p.Lys4140Gln)
c.12400A>C (p.Lys4134Gln)
c.12376A>C (p.Lys4126Gln)
c.12373A>C (p.Lys4125Gln)
c.12370A>C (p.Lys4124Gln)
c.12322A>C (p.Lys4108Gln)
c.12310A>C (p.Lys4104Gln)
c.12172A>C (p.Lys4058Gln)
c.12019A>C (p.Lys4007Gln)
Xg.53537654C>ACA516423934HUWE1c.11823G>T (p.Arg3941=)
c.12039G>T (p.Arg4013=)
c.2506G>T
n.174G>T
c.12012G>T (p.Arg4004=)
c.12288G>T (p.Arg4096=)
c.12285G>T (p.Arg4095=)
c.12243G>T (p.Arg4081=)
c.12240G>T (p.Arg4080=)
c.12237G>T (p.Arg4079=)
c.12189G>T (p.Arg4063=)
c.11886G>T (p.Arg3962=)
c.12420G>T (p.Arg4140=)
c.12417G>T (p.Arg4139=)
c.12399G>T (p.Arg4133=)
c.12375G>T (p.Arg4125=)
c.12372G>T (p.Arg4124=)
c.12369G>T (p.Arg4123=)
c.12321G>T (p.Arg4107=)
c.12309G>T (p.Arg4103=)
c.12171G>T (p.Arg4057=)
c.12018G>T (p.Arg4006=)
Xg.53537654C>GCA516423937HUWE1c.11823G>C (p.Arg3941=)
c.12039G>C (p.Arg4013=)
c.2506G>C
n.174G>C
c.12012G>C (p.Arg4004=)
c.12288G>C (p.Arg4096=)
c.12285G>C (p.Arg4095=)
c.12243G>C (p.Arg4081=)
c.12240G>C (p.Arg4080=)
c.12237G>C (p.Arg4079=)
c.12189G>C (p.Arg4063=)
c.11886G>C (p.Arg3962=)
c.12420G>C (p.Arg4140=)
c.12417G>C (p.Arg4139=)
c.12399G>C (p.Arg4133=)
c.12375G>C (p.Arg4125=)
c.12372G>C (p.Arg4124=)
c.12369G>C (p.Arg4123=)
c.12321G>C (p.Arg4107=)
c.12309G>C (p.Arg4103=)
c.12171G>C (p.Arg4057=)
c.12018G>C (p.Arg4006=)
Xg.53537654C>TCA516423938HUWE1c.11823G>A (p.Arg3941=)
c.12039G>A (p.Arg4013=)
c.2506G>A
n.174G>A
c.12012G>A (p.Arg4004=)
c.12288G>A (p.Arg4096=)
c.12285G>A (p.Arg4095=)
c.12243G>A (p.Arg4081=)
c.12240G>A (p.Arg4080=)
c.12237G>A (p.Arg4079=)
c.12189G>A (p.Arg4063=)
c.11886G>A (p.Arg3962=)
c.12420G>A (p.Arg4140=)
c.12417G>A (p.Arg4139=)
c.12399G>A (p.Arg4133=)
c.12375G>A (p.Arg4125=)
c.12372G>A (p.Arg4124=)
c.12369G>A (p.Arg4123=)
c.12321G>A (p.Arg4107=)
c.12309G>A (p.Arg4103=)
c.12171G>A (p.Arg4057=)
c.12018G>A (p.Arg4006=)
Xg.53537655C>ACA413155792HUWE1c.11822G>T (p.Arg3941Leu)
c.12038G>T (p.Arg4013Leu)
c.2505G>T
n.173G>T
c.12011G>T (p.Arg4004Leu)
c.12287G>T (p.Arg4096Leu)
c.12284G>T (p.Arg4095Leu)
c.12242G>T (p.Arg4081Leu)
c.12239G>T (p.Arg4080Leu)
c.12236G>T (p.Arg4079Leu)
c.12188G>T (p.Arg4063Leu)
c.11885G>T (p.Arg3962Leu)
c.12419G>T (p.Arg4140Leu)
c.12416G>T (p.Arg4139Leu)
c.12398G>T (p.Arg4133Leu)
c.12374G>T (p.Arg4125Leu)
c.12371G>T (p.Arg4124Leu)
c.12368G>T (p.Arg4123Leu)
c.12320G>T (p.Arg4107Leu)
c.12308G>T (p.Arg4103Leu)
c.12170G>T (p.Arg4057Leu)
c.12017G>T (p.Arg4006Leu)
Xg.53537655C=CA2429870465HUWE1c.11822G= (p.Arg3941=)
c.12038G= (p.Arg4013=)
c.2505G=
n.173G=
c.12011G= (p.Arg4004=)
c.12287G= (p.Arg4096=)
c.12284G= (p.Arg4095=)
c.12242G= (p.Arg4081=)
c.12239G= (p.Arg4080=)
c.12236G= (p.Arg4079=)
c.12188G= (p.Arg4063=)
c.11885G= (p.Arg3962=)
c.12419G= (p.Arg4140=)
c.12416G= (p.Arg4139=)
c.12398G= (p.Arg4133=)
c.12374G= (p.Arg4125=)
c.12371G= (p.Arg4124=)
c.12368G= (p.Arg4123=)
c.12320G= (p.Arg4107=)
c.12308G= (p.Arg4103=)
c.12170G= (p.Arg4057=)
c.12017G= (p.Arg4006=)
Xg.53537655C>GCA413155799HUWE1c.11822G>C (p.Arg3941Pro)
c.12038G>C (p.Arg4013Pro)
c.2505G>C
n.173G>C
c.12011G>C (p.Arg4004Pro)
c.12287G>C (p.Arg4096Pro)
c.12284G>C (p.Arg4095Pro)
c.12242G>C (p.Arg4081Pro)
c.12239G>C (p.Arg4080Pro)
c.12236G>C (p.Arg4079Pro)
c.12188G>C (p.Arg4063Pro)
c.11885G>C (p.Arg3962Pro)
c.12419G>C (p.Arg4140Pro)
c.12416G>C (p.Arg4139Pro)
c.12398G>C (p.Arg4133Pro)
c.12374G>C (p.Arg4125Pro)
c.12371G>C (p.Arg4124Pro)
c.12368G>C (p.Arg4123Pro)
c.12320G>C (p.Arg4107Pro)
c.12308G>C (p.Arg4103Pro)
c.12170G>C (p.Arg4057Pro)
c.12017G>C (p.Arg4006Pro)
Xg.53537655C>TCA10421283HUWE1c.11822G>A (p.Arg3941Gln)
c.12038G>A (p.Arg4013Gln)
c.2505G>A
n.173G>A
c.12011G>A (p.Arg4004Gln)
c.12287G>A (p.Arg4096Gln)
c.12284G>A (p.Arg4095Gln)
c.12242G>A (p.Arg4081Gln)
c.12239G>A (p.Arg4080Gln)
c.12236G>A (p.Arg4079Gln)
c.12188G>A (p.Arg4063Gln)
c.11885G>A (p.Arg3962Gln)
c.12419G>A (p.Arg4140Gln)
c.12416G>A (p.Arg4139Gln)
c.12398G>A (p.Arg4133Gln)
c.12374G>A (p.Arg4125Gln)
c.12371G>A (p.Arg4124Gln)
c.12368G>A (p.Arg4123Gln)
c.12320G>A (p.Arg4107Gln)
c.12308G>A (p.Arg4103Gln)
c.12170G>A (p.Arg4057Gln)
c.12017G>A (p.Arg4006Gln)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC
Xg.53537656G>ACA121140HUWE1c.11821C>T (p.Arg3941Trp)
c.12037C>T (p.Arg4013Trp)
c.2504C>T
n.172C>T
c.12010C>T (p.Arg4004Trp)
c.12286C>T (p.Arg4096Trp)
c.12283C>T (p.Arg4095Trp)
c.12241C>T (p.Arg4081Trp)
c.12238C>T (p.Arg4080Trp)
c.12235C>T (p.Arg4079Trp)
c.12187C>T (p.Arg4063Trp)
c.11884C>T (p.Arg3962Trp)
c.12418C>T (p.Arg4140Trp)
c.12415C>T (p.Arg4139Trp)
c.12397C>T (p.Arg4133Trp)
c.12373C>T (p.Arg4125Trp)
c.12370C>T (p.Arg4124Trp)
c.12367C>T (p.Arg4123Trp)
c.12319C>T (p.Arg4107Trp)
c.12307C>T (p.Arg4103Trp)
c.12169C>T (p.Arg4057Trp)
c.12016C>T (p.Arg4006Trp)
 ClinVar dbSNP COSMIC COSMIC
Xg.53537656G>CCA413155809HUWE1c.11821C>G (p.Arg3941Gly)
c.12037C>G (p.Arg4013Gly)
c.2504C>G
n.172C>G
c.12010C>G (p.Arg4004Gly)
c.12286C>G (p.Arg4096Gly)
c.12283C>G (p.Arg4095Gly)
c.12241C>G (p.Arg4081Gly)
c.12238C>G (p.Arg4080Gly)
c.12235C>G (p.Arg4079Gly)
c.12187C>G (p.Arg4063Gly)
c.11884C>G (p.Arg3962Gly)
c.12418C>G (p.Arg4140Gly)
c.12415C>G (p.Arg4139Gly)
c.12397C>G (p.Arg4133Gly)
c.12373C>G (p.Arg4125Gly)
c.12370C>G (p.Arg4124Gly)
c.12367C>G (p.Arg4123Gly)
c.12319C>G (p.Arg4107Gly)
c.12307C>G (p.Arg4103Gly)
c.12169C>G (p.Arg4057Gly)
c.12016C>G (p.Arg4006Gly)
Xg.53537656G=CA2429870466HUWE1c.11821C= (p.Arg3941=)
c.12037C= (p.Arg4013=)
c.2504C=
n.172C=
c.12010C= (p.Arg4004=)
c.12286C= (p.Arg4096=)
c.12283C= (p.Arg4095=)
c.12241C= (p.Arg4081=)
c.12238C= (p.Arg4080=)
c.12235C= (p.Arg4079=)
c.12187C= (p.Arg4063=)
c.11884C= (p.Arg3962=)
c.12418C= (p.Arg4140=)
c.12415C= (p.Arg4139=)
c.12397C= (p.Arg4133=)
c.12373C= (p.Arg4125=)
c.12370C= (p.Arg4124=)
c.12367C= (p.Arg4123=)
c.12319C= (p.Arg4107=)
c.12307C= (p.Arg4103=)
c.12169C= (p.Arg4057=)
c.12016C= (p.Arg4006=)
Xg.53537656G>TCA516423943HUWE1c.11821C>A (p.Arg3941=)
c.12037C>A (p.Arg4013=)
c.2504C>A
n.172C>A
c.12010C>A (p.Arg4004=)
c.12286C>A (p.Arg4096=)
c.12283C>A (p.Arg4095=)
c.12241C>A (p.Arg4081=)
c.12238C>A (p.Arg4080=)
c.12235C>A (p.Arg4079=)
c.12187C>A (p.Arg4063=)
c.11884C>A (p.Arg3962=)
c.12418C>A (p.Arg4140=)
c.12415C>A (p.Arg4139=)
c.12397C>A (p.Arg4133=)
c.12373C>A (p.Arg4125=)
c.12370C>A (p.Arg4124=)
c.12367C>A (p.Arg4123=)
c.12319C>A (p.Arg4107=)
c.12307C>A (p.Arg4103=)
c.12169C>A (p.Arg4057=)
c.12016C>A (p.Arg4006=)

Number of alleles fetched