CEP89 — 354 ClinVar variants
All ClinVar germline CEP89 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →
9 Conflicting · 34 Benign · 1 Benign/Likely benign · 103 Likely benign · 207 Uncertain significance
Full CEP89 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 190
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CEP89 p.Ala30Pro Conflicting Single submitter
- CEP89 p.Arg424His Conflicting Single submitter
- CEP89 p.Arg458His Conflicting Single submitter
- CEP89 p.Met248Val Conflicting Single submitter
- CEP89 p.Ser504Leu Conflicting Single submitter
- CEP89 p.Ser643Gly Conflicting Single submitter
- CEP89 p.Tyr232His Conflicting Single submitter
- CEP89 p.Val26Ile Conflicting Single submitter
- CEP89 p.Val510Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP89 p.Ala291Thr Uncertain significance Multiple submitters
- CEP89 p.Ala372Thr Uncertain significance Multiple submitters
- CEP89 p.Ala680Thr Uncertain significance Multiple submitters
- CEP89 p.Ala780Asp Uncertain significance Multiple submitters
- CEP89 p.Arg458Cys Uncertain significance Multiple submitters
- CEP89 p.Arg64Leu Uncertain significance Multiple submitters
- CEP89 p.Arg76Gln Uncertain significance Multiple submitters
- CEP89 p.Glu567Ala Uncertain significance Multiple submitters
- CEP89 p.Glu677Gln Uncertain significance Multiple submitters
- CEP89 p.Gly354Val Uncertain significance Multiple submitters
- CEP89 p.Gly768Ser Uncertain significance Multiple submitters
- CEP89 p.His455Asn Uncertain significance Multiple submitters
- CEP89 p.Pro218Ser Uncertain significance Multiple submitters
- CEP89 p.Ser344Ile Uncertain significance Multiple submitters
- CEP89 p.Ser551Arg Uncertain significance Multiple submitters
- CEP89 p.Ser773Phe Uncertain significance Multiple submitters
- CEP89 p.Thr131Ser Uncertain significance Multiple submitters
- CEP89 p.Thr321Ala Uncertain significance Multiple submitters
- CEP89 p.Thr60Ser Uncertain significance Multiple submitters
- CEP89 p.Thr782Ile Uncertain significance Multiple submitters
- CEP89 p.Ala191Val Uncertain significance Single submitter
- CEP89 p.Ala288Thr Uncertain significance Single submitter
- CEP89 p.Ala509Thr Uncertain significance Single submitter
- CEP89 p.Ala573Thr Uncertain significance Single submitter
- CEP89 p.Ala601Pro Uncertain significance Single submitter
- CEP89 p.Ala606Thr Uncertain significance Single submitter
- CEP89 p.Ala707Val Uncertain significance Single submitter
- CEP89 p.Arg112Ser Uncertain significance Single submitter
- CEP89 p.Arg146Trp Uncertain significance Single submitter
- CEP89 p.Arg194Gln Uncertain significance Single submitter
- CEP89 p.Arg229His Uncertain significance Single submitter
- CEP89 p.Arg424Cys Uncertain significance Single submitter
- CEP89 p.Arg494Pro Uncertain significance Single submitter
- CEP89 p.Arg572Gln Uncertain significance Single submitter
- CEP89 p.Arg578Lys Uncertain significance Single submitter
- CEP89 p.Arg619Cys Uncertain significance Single submitter
- CEP89 p.Arg619Gly Uncertain significance Single submitter
- CEP89 p.Arg646His Uncertain significance Single submitter
- CEP89 p.Arg687Gln Uncertain significance Single submitter
- CEP89 p.Arg691Gln Uncertain significance Single submitter
- CEP89 p.Arg730Gln Uncertain significance Single submitter
- CEP89 p.Arg733Gln Uncertain significance Single submitter
- CEP89 p.Arg742Ser Uncertain significance Single submitter
- CEP89 p.Asn206Asp Uncertain significance Single submitter
- CEP89 p.Asn326Ser Uncertain significance Single submitter
- CEP89 p.Asn557Lys Uncertain significance Single submitter
- CEP89 p.Asn577Ser Uncertain significance Single submitter
- CEP89 p.Asp125Asn Uncertain significance Single submitter
- CEP89 p.Asp128Gly Uncertain significance Single submitter
- CEP89 p.Asp199Val Uncertain significance Single submitter
- CEP89 p.Asp362Asn Uncertain significance Single submitter
- CEP89 p.Asp375Val Uncertain significance Single submitter
- CEP89 p.Asp634Glu Uncertain significance Single submitter
- CEP89 p.Asp770Asn Uncertain significance Single submitter
- CEP89 p.Cys215Tyr Uncertain significance Single submitter
- CEP89 p.Gln193Glu Uncertain significance Single submitter
- CEP89 p.Gln272Arg Uncertain significance Single submitter
- CEP89 p.Gln307Arg Uncertain significance Single submitter
- CEP89 p.Gln307Lys Uncertain significance Single submitter
- CEP89 p.Gln410Glu Uncertain significance Single submitter
- CEP89 p.Gln562Glu Uncertain significance Single submitter
- CEP89 p.Gln706Leu Uncertain significance Single submitter
- CEP89 p.Gln709Arg Uncertain significance Single submitter
- CEP89 p.Gln709Lys Uncertain significance Single submitter
- CEP89 p.Gln746Leu Uncertain significance Single submitter
- CEP89 p.Gln762His Uncertain significance Single submitter
- CEP89 p.Glu289Gln Uncertain significance Single submitter
- CEP89 p.Glu445Asp Uncertain significance Single submitter
- CEP89 p.Glu488Lys Uncertain significance Single submitter
- CEP89 p.Gly137Arg Uncertain significance Single submitter
- CEP89 p.Gly137Ser Uncertain significance Single submitter
- CEP89 p.Gly151Asp Uncertain significance Single submitter
- CEP89 p.Gly151Val Uncertain significance Single submitter
- CEP89 p.Gly200Asp Uncertain significance Single submitter
- CEP89 p.Gly478Cys Uncertain significance Single submitter
- CEP89 p.Gly610Val Uncertain significance Single submitter
- CEP89 p.Gly656Asp Uncertain significance Single submitter
- CEP89 p.Gly681Arg Uncertain significance Single submitter
- CEP89 p.His12Leu Uncertain significance Single submitter
- CEP89 p.His169Tyr Uncertain significance Single submitter
- CEP89 p.His202Gln Uncertain significance Single submitter
- CEP89 p.His455Arg Uncertain significance Single submitter
- CEP89 p.His602Asn Uncertain significance Single submitter
- CEP89 p.Ile235Thr Uncertain significance Single submitter
- CEP89 p.Ile347Met Uncertain significance Single submitter
- CEP89 p.Ile668Val Uncertain significance Single submitter
- CEP89 p.Leu261Val Uncertain significance Single submitter
- CEP89 p.Leu366Pro Uncertain significance Single submitter
- CEP89 p.Leu370Ser Uncertain significance Single submitter
- CEP89 p.Leu553Pro Uncertain significance Single submitter
- CEP89 p.Leu570Val Uncertain significance Single submitter
- CEP89 p.Leu61Val Uncertain significance Single submitter
- CEP89 p.Leu622Arg Uncertain significance Single submitter
- CEP89 p.Leu637Pro Uncertain significance Single submitter
- CEP89 p.Lys217Gln Uncertain significance Single submitter
- CEP89 p.Lys353Arg Uncertain significance Single submitter
- CEP89 p.Lys496Gln Uncertain significance Single submitter
- CEP89 p.Lys639Arg Uncertain significance Single submitter
- CEP89 p.Lys682Arg Uncertain significance Single submitter
- CEP89 p.Lys777Gln Uncertain significance Single submitter
- CEP89 p.Met253Leu Uncertain significance Single submitter
- CEP89 p.Pro190Leu Uncertain significance Single submitter
- CEP89 p.Pro212Ser Uncertain significance Single submitter
- CEP89 p.Pro357Leu Uncertain significance Single submitter
- CEP89 p.Pro38Thr Uncertain significance Single submitter
- CEP89 p.Pro781Ser Uncertain significance Single submitter
- CEP89 p.Ser344Arg Uncertain significance Single submitter
- CEP89 p.Ser344Gly Uncertain significance Single submitter
- CEP89 p.Ser420Arg Uncertain significance Single submitter
- CEP89 p.Ser420Asn Uncertain significance Single submitter
- CEP89 p.Ser600Ala Uncertain significance Single submitter
- CEP89 p.Thr543Arg Uncertain significance Single submitter
- CEP89 p.Thr616Ile Uncertain significance Single submitter
- CEP89 p.Thr741Arg Uncertain significance Single submitter
- CEP89 p.Thr741Met Uncertain significance Single submitter
- CEP89 p.Thr95Ser Uncertain significance Single submitter
- CEP89 p.Tyr774Cys Uncertain significance Single submitter
- CEP89 p.Val296Ile Uncertain significance Single submitter
- CEP89 p.Val402Ala Uncertain significance Single submitter
- CEP89 p.Val510Leu Uncertain significance Single submitter
- CEP89 p.Val745Met Uncertain significance Single submitter
- CEP89 p.Val760Ile Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- CEP89 p.Ala291Val Uncertain significance Multiple submitters
- CEP89 p.Ala54Val Uncertain significance Multiple submitters
- CEP89 p.Arg102Trp Uncertain significance Multiple submitters
- CEP89 p.Arg194Trp Benign Multiple submitters
- CEP89 p.Arg324Cys Uncertain significance Multiple submitters
- CEP89 p.Arg494Cys Benign Multiple submitters
- CEP89 p.Arg619His Uncertain significance Multiple submitters
- CEP89 p.Arg671His Uncertain significance Multiple submitters
- CEP89 p.Arg687Trp Uncertain significance Multiple submitters
- CEP89 p.Arg691Trp Benign Multiple submitters
- CEP89 p.Arg76Trp Uncertain significance Multiple submitters
- CEP89 p.Glu174Lys Uncertain significance Multiple submitters
- CEP89 p.Leu304Val Uncertain significance Multiple submitters
- CEP89 p.Pro22Leu Uncertain significance Multiple submitters
- CEP89 p.Pro33Leu Uncertain significance Multiple submitters
- CEP89 p.Ser135Phe Uncertain significance Multiple submitters
- CEP89 p.Ser724Pro Uncertain significance Multiple submitters
- CEP89 p.Thr65Met Uncertain significance Multiple submitters
- CEP89 p.Arg324Ser Uncertain significance Single submitter
- CEP89 p.Arg331Gln Uncertain significance Single submitter
- CEP89 p.Arg34Cys Uncertain significance Single submitter
- CEP89 p.Arg395Gly Uncertain significance Single submitter
- CEP89 p.Arg39Cys Uncertain significance Single submitter
- CEP89 p.Arg39His Uncertain significance Single submitter
- CEP89 p.Arg494His Benign Single submitter
- CEP89 p.Arg532Thr Uncertain significance Single submitter
- CEP89 p.Arg646Cys Uncertain significance Single submitter
- CEP89 p.Arg64Trp Uncertain significance Single submitter
- CEP89 p.Arg671Cys Uncertain significance Single submitter
- CEP89 p.Asn247Ile Uncertain significance Single submitter
- CEP89 p.Asp128Asn Uncertain significance Single submitter
- CEP89 p.Gln479Leu Uncertain significance Single submitter
- CEP89 p.Glu390Lys Uncertain significance Single submitter
- CEP89 p.Glu400Ala Uncertain significance Single submitter
- CEP89 p.Glu411Asp Uncertain significance Single submitter
- CEP89 p.Glu461Asp Uncertain significance Single submitter
- CEP89 p.Glu461Gly Uncertain significance Single submitter
- CEP89 p.Glu534Gly Uncertain significance Single submitter
- CEP89 p.Glu536Gly Uncertain significance Single submitter
- CEP89 p.Glu618Gly Uncertain significance Single submitter
- CEP89 p.His513Tyr Uncertain significance Single submitter
- CEP89 p.Leu261Arg Uncertain significance Single submitter
- CEP89 p.Leu318Phe Uncertain significance Single submitter
- CEP89 p.Leu408Trp Uncertain significance Single submitter
- CEP89 p.Leu663Pro Uncertain significance Single submitter
- CEP89 p.Lys274Glu Uncertain significance Single submitter
- CEP89 p.Phe726Leu Uncertain significance Single submitter
- CEP89 p.Pro28Ser Uncertain significance Single submitter
- CEP89 p.Pro38Ser Uncertain significance Single submitter
- CEP89 p.Pro41Thr Uncertain significance Single submitter
- CEP89 p.Ser136Arg Uncertain significance Single submitter
- CEP89 p.Ser173Cys Uncertain significance Single submitter
- CEP89 p.Ser40Gly Uncertain significance Single submitter
- CEP89 p.Ser724Tyr Uncertain significance Single submitter
- CEP89 p.Ser778Phe Uncertain significance Single submitter
- CEP89 p.Ser83Arg Uncertain significance Single submitter
- CEP89 p.Ser83Ile Uncertain significance Single submitter
- CEP89 p.Tyr93Cys Uncertain significance Single submitter
- CEP89 p.Val159Ala Uncertain significance Single submitter
All CEP89 variants
Conflicting classifications of pathogenicity 9
- p.Ala30Pro Single submitter ⚠
- p.Arg424His Single submitter ⚠
- p.Arg458His Single submitter ⚠
- p.Met248Val Single submitter ⚠
- p.Ser504Leu Single submitter ⚠
- p.Ser643Gly Single submitter ⚠
- p.Tyr232His Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val510Met Single submitter ⚠
Benign 34
- c.1269-18C>T Multiple submitters
- c.1385-19T>C Multiple submitters
- c.595+14A>G Multiple submitters
- c.624+17T>A Multiple submitters
- c.624+18A>T Multiple submitters
- p.Arg102= Multiple submitters
- p.Arg102Gln Multiple submitters
- p.Arg194Trp Multiple submitters ⚠
- p.Arg494Cys Multiple submitters ⚠
- p.Arg691Trp Multiple submitters ⚠
- p.Asn614= Multiple submitters
- p.Gln443= Multiple submitters
- p.Glu407= Multiple submitters
- p.His779Leu Multiple submitters
- p.Ter784Gln Multiple submitters
- p.Val398Ala Multiple submitters
- p.Val753= Multiple submitters
- c.1165-17C>T Single submitter
- c.147-14G>A Single submitter
- c.147-17G>T Single submitter
- c.1734-20C>T Single submitter
- c.1966-10C>T Single submitter
- c.305+14C>T Single submitter
- c.39+177dup Single submitter
- c.492+2T>C Single submitter
- c.595+14del Single submitter
- c.887-7del Single submitter
- p.Arg146Gln Single submitter
- p.Arg494His Single submitter ⚠
- p.Asp142Ala Single submitter
- p.Glu139= Single submitter
- p.Glu382= Single submitter
- p.Gly226= Single submitter
- p.Ser153Gly Single submitter
Benign/Likely benign 1
- c.1733+6T>A Multiple submitters
Likely benign 103
- c.1029+12G>A Multiple submitters
- p.Ala291= Multiple submitters
- p.Arg64Gln Multiple submitters
- p.Asp183Gly Multiple submitters
- p.Leu554Ser Multiple submitters
- c.1029+11C>T Single submitter
- c.1029+14T>C Single submitter
- c.1029+16G>A Single submitter
- c.1030-11T>C Single submitter
- c.1080+13T>C Single submitter
- c.1081-9T>C Single submitter
- c.1165-13C>T Single submitter
- c.1165-20T>G Single submitter
- c.1384+15G>A Single submitter
- c.146+8T>G Single submitter
- c.147-4G>A Single submitter
- c.147-8G>A Single submitter
- c.1565+10T>G Single submitter
- c.1565+20T>C Single submitter
- c.1734-13G>T Single submitter
- c.1734-18T>C Single submitter
- c.1734-19A>G Single submitter
- c.1875+16G>A Single submitter
- c.1875+9C>T Single submitter
- c.1876-7T>C Single submitter
- c.1965+9T>G Single submitter
- c.1966-14C>G Single submitter
- c.1966-20A>C Single submitter
- c.1966-6G>A Single submitter
- c.1966-7C>T Single submitter
- c.2135+12G>A Single submitter
- c.2135+14C>A Single submitter
- c.2135+18C>T Single submitter
- c.305+15G>A Single submitter
- c.306-18A>G Single submitter
- c.306-19C>T Single submitter
- c.39+11G>A Single submitter
- c.39+15G>A Single submitter
- c.39+16C>G Single submitter
- c.39+177del Single submitter
- c.39+20C>T Single submitter
- c.40-19T>G Single submitter
- c.493-8A>C Single submitter
- c.595+14_595+15insG Single submitter
- c.595+14A>C Single submitter
- c.595+14dup Single submitter
- c.596-13T>C Single submitter
- c.596-18del Single submitter
- c.625-14T>C Single submitter
- c.625-4C>T Single submitter
- c.886+17T>G Single submitter
- c.887-14A>G Single submitter
- c.887-8T>G Single submitter
- p.Ala288Ser Single submitter
- p.Ala484= Single submitter
- p.Ala547= Single submitter
- p.Ala547Val Single submitter
- p.Ala568= Single submitter
- p.Ala680= Single submitter
- p.Ala707= Single submitter
- p.Ala780= Single submitter
- p.Arg100= Single submitter
- p.Arg39= Single submitter
- p.Arg424= Single submitter
- p.Arg687= Single submitter
- p.Asn486= Single submitter
- p.Asn597= Single submitter
- p.Asp175= Single submitter
- p.Asp381= Single submitter
- p.Asp767= Single submitter
- p.Asp770= Single submitter
- p.Gln182= Single submitter
- p.Gln266= Single submitter
- p.Glu499Asp Single submitter
- p.Glu529= Single submitter
- p.Glu561= Single submitter
- p.Gly744= Single submitter
- p.Gly759= Single submitter
- p.His152= Single submitter
- p.His477= Single submitter
- p.Ile90= Single submitter
- p.Leu156= Single submitter
- p.Leu318= Single submitter
- p.Leu350= Single submitter
- p.Leu371= Single submitter
- p.Leu566= Single submitter
- p.Leu608= Single submitter
- p.Leu665= Single submitter
- p.Leu776= Single submitter
- p.Lys14= Single submitter
- p.Lys341= Single submitter
- p.Lys388Gln Single submitter
- p.Lys564= Single submitter
- p.Lys639= Single submitter
- p.Phe679= Single submitter
- p.Pro116= Single submitter
- p.Pro220= Single submitter
- p.Ser25= Single submitter
- p.Ser504= Single submitter
- p.Ser773= Single submitter
- p.Thr428= Single submitter
- p.Tyr157= Single submitter
- p.Val654= Single submitter
Uncertain significance 207
- p.Ala291Thr Multiple submitters ⚠
- p.Ala291Val Multiple submitters ⚠
- p.Ala372Thr Multiple submitters ⚠
- p.Ala54Val Multiple submitters ⚠
- p.Ala680Thr Multiple submitters ⚠
- p.Ala780Asp Multiple submitters ⚠
- p.Arg102Trp Multiple submitters ⚠
- p.Arg324Cys Multiple submitters ⚠
- p.Arg458Cys Multiple submitters ⚠
- p.Arg619His Multiple submitters ⚠
- p.Arg64Leu Multiple submitters ⚠
- p.Arg671His Multiple submitters ⚠
- p.Arg687Trp Multiple submitters ⚠
- p.Arg76Gln Multiple submitters ⚠
- p.Arg76Trp Multiple submitters ⚠
- p.Asn563fs Multiple submitters
- p.Glu174Lys Multiple submitters ⚠
- p.Glu567Ala Multiple submitters ⚠
- p.Glu677Gln Multiple submitters ⚠
- p.Gly354Val Multiple submitters ⚠
- p.Gly768Ser Multiple submitters ⚠
- p.His455Asn Multiple submitters ⚠
- p.Leu304Val Multiple submitters ⚠
- p.Lys282Ter Multiple submitters
- p.Pro218Ser Multiple submitters ⚠
- p.Pro22Leu Multiple submitters ⚠
- p.Pro33Leu Multiple submitters ⚠
- p.Ser135Phe Multiple submitters ⚠
- p.Ser344Ile Multiple submitters ⚠
- p.Ser551Arg Multiple submitters ⚠
- p.Ser724Pro Multiple submitters ⚠
- p.Ser773Phe Multiple submitters ⚠
- p.Thr131Ser Multiple submitters ⚠
- p.Thr321Ala Multiple submitters ⚠
- p.Thr60Ser Multiple submitters ⚠
- p.Thr65Met Multiple submitters ⚠
- p.Thr782Ile Multiple submitters ⚠
- p.Tyr686Ter Multiple submitters
- c.1029+3A>G Single submitter
- c.1029+5C>T Single submitter
- c.1029+6G>A Single submitter
- c.1030-12T>C Single submitter
- c.146+2T>C Single submitter
- c.1734-13G>A Single submitter
- c.1965+5G>A Single submitter
- c.306-2A>G Single submitter
- c.306-3C>T Single submitter
- c.39+1G>A Single submitter
- c.595+5A>G Single submitter
- c.625-1G>A Single submitter
- c.887-1G>C Single submitter
- p.Ala191Val Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala509Thr Single submitter ⚠
- p.Ala573Thr Single submitter ⚠
- p.Ala601Pro Single submitter ⚠
- p.Ala606Thr Single submitter ⚠
- p.Ala707Val Single submitter ⚠
- p.Arg112Ser Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Arg324Ser Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg331Ter Single submitter
- p.Arg34Cys Single submitter ⚠
- p.Arg395Gly Single submitter ⚠
- p.Arg397Ter Single submitter
- p.Arg39Cys Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg494Pro Single submitter ⚠
- p.Arg532Thr Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg578Lys Single submitter ⚠
- p.Arg619Cys Single submitter ⚠
- p.Arg619Gly Single submitter ⚠
- p.Arg646Cys Single submitter ⚠
- p.Arg646His Single submitter ⚠
- p.Arg64Trp Single submitter ⚠
- p.Arg671Cys Single submitter ⚠
- p.Arg687Gln Single submitter ⚠
- p.Arg691Gln Single submitter ⚠
- p.Arg730Gln Single submitter ⚠
- p.Arg733Gln Single submitter ⚠
- p.Arg733Ter Single submitter
- p.Arg742Ser Single submitter ⚠
- p.Asn206Asp Single submitter ⚠
- p.Asn247Ile Single submitter ⚠
- p.Asn326Ser Single submitter ⚠
- p.Asn557Lys Single submitter ⚠
- p.Asn577Ser Single submitter ⚠
- p.Asn614Thr Single submitter
- p.Asp125Asn Single submitter ⚠
- p.Asp128Asn Single submitter ⚠
- p.Asp128Gly Single submitter ⚠
- p.Asp199Val Single submitter ⚠
- p.Asp362Asn Single submitter ⚠
- p.Asp375Val Single submitter ⚠
- p.Asp634Glu Single submitter ⚠
- p.Asp770Asn Single submitter ⚠
- p.Cys215Tyr Single submitter ⚠
- p.Cys628fs Single submitter
- p.Gln193fs Single submitter
- p.Gln193Glu Single submitter ⚠
- p.Gln266Ter Single submitter
- p.Gln272Arg Single submitter ⚠
- p.Gln294Ter Single submitter
- p.Gln307Arg Single submitter ⚠
- p.Gln307Lys Single submitter ⚠
- p.Gln410Glu Single submitter ⚠
- p.Gln479Leu Single submitter ⚠
- p.Gln562Glu Single submitter ⚠
- p.Gln685Ter Single submitter
- p.Gln706Leu Single submitter ⚠
- p.Gln709Arg Single submitter ⚠
- p.Gln709Lys Single submitter ⚠
- p.Gln746Leu Single submitter ⚠
- p.Gln762His Single submitter ⚠
- p.Glu289Gln Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu400Ala Single submitter ⚠
- p.Glu411Asp Single submitter ⚠
- p.Glu445Asp Single submitter ⚠
- p.Glu461Asp Single submitter ⚠
- p.Glu461Gly Single submitter ⚠
- p.Glu488Lys Single submitter ⚠
- p.Glu529Ter Single submitter
- p.Glu534Gly Single submitter ⚠
- p.Glu536Gly Single submitter ⚠
- p.Glu592Ter Single submitter
- p.Glu618Gly Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly151Val Single submitter ⚠
- p.Gly200Asp Single submitter ⚠
- p.Gly478Cys Single submitter ⚠
- p.Gly610Val Single submitter ⚠
- p.Gly656Asp Single submitter ⚠
- p.Gly681Arg Single submitter ⚠
- p.His12Leu Single submitter ⚠
- p.His169Tyr Single submitter ⚠
- p.His202Gln Single submitter ⚠
- p.His455Arg Single submitter ⚠
- p.His513Tyr Single submitter ⚠
- p.His602Asn Single submitter ⚠
- p.Ile235Thr Single submitter ⚠
- p.Ile347Met Single submitter ⚠
- p.Ile668Val Single submitter ⚠
- p.Leu261Arg Single submitter ⚠
- p.Leu261Val Single submitter ⚠
- p.Leu318Phe Single submitter ⚠
- p.Leu366Pro Single submitter ⚠
- p.Leu370Ser Single submitter ⚠
- p.Leu408Trp Single submitter ⚠
- p.Leu553Pro Single submitter ⚠
- p.Leu570Val Single submitter ⚠
- p.Leu61Val Single submitter ⚠
- p.Leu622Arg Single submitter ⚠
- p.Leu637Pro Single submitter ⚠
- p.Leu663Pro Single submitter ⚠
- p.Lys217Gln Single submitter ⚠
- p.Lys265Ter Single submitter
- p.Lys274Glu Single submitter ⚠
- p.Lys353Arg Single submitter ⚠
- p.Lys496Gln Single submitter ⚠
- p.Lys550del Single submitter
- p.Lys639Arg Single submitter ⚠
- p.Lys682Arg Single submitter ⚠
- p.Lys777Gln Single submitter ⚠
- p.Met253Leu Single submitter ⚠
- p.Phe726Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Pro41Thr Single submitter ⚠
- p.Pro781Ser Single submitter ⚠
- p.Ser136Arg Single submitter ⚠
- p.Ser173Cys Single submitter ⚠
- p.Ser344Arg Single submitter ⚠
- p.Ser344Gly Single submitter ⚠
- p.Ser40Gly Single submitter ⚠
- p.Ser420Arg Single submitter ⚠
- p.Ser420Asn Single submitter ⚠
- p.Ser600Ala Single submitter ⚠
- p.Ser724Tyr Single submitter ⚠
- p.Ser778Phe Single submitter ⚠
- p.Ser83Arg Single submitter ⚠
- p.Ser83Ile Single submitter ⚠
- p.Ter784Leu Single submitter
- p.Thr543Arg Single submitter ⚠
- p.Thr616Ile Single submitter ⚠
- p.Thr741Arg Single submitter ⚠
- p.Thr741Met Single submitter ⚠
- p.Thr95Ser Single submitter ⚠
- p.Tyr774Cys Single submitter ⚠
- p.Tyr93Cys Single submitter ⚠
- p.Val159Ala Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Val402Ala Single submitter ⚠
- p.Val510Leu Single submitter ⚠
- p.Val745Met Single submitter ⚠
- p.Val760Ile Single submitter ⚠