EGLN2 — 558 ClinVar variants
All ClinVar germline EGLN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 319 flagged for review →
17 Benign · 2 Benign/Likely benign · 215 Likely benign · 324 Uncertain significance
Full EGLN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 319
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 lean, ClinVar uncertain 282
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 282
- EGLN2 p.Ala137Thr Uncertain significance Multiple submitters
- EGLN2 p.Arg236Cys Uncertain significance Multiple submitters
- EGLN2 p.Arg306Cys Uncertain significance Multiple submitters
- EGLN2 p.Ala108Thr Uncertain significance Single submitter
- EGLN2 p.Ala109Ser Uncertain significance Single submitter
- EGLN2 p.Ala112Gly Uncertain significance Single submitter
- EGLN2 p.Ala112Thr Uncertain significance Single submitter
- EGLN2 p.Ala112Val Uncertain significance Single submitter
- EGLN2 p.Ala116Gly Uncertain significance Single submitter
- EGLN2 p.Ala116Thr Uncertain significance Single submitter
- EGLN2 p.Ala144Val Uncertain significance Single submitter
- EGLN2 p.Ala161Gly Uncertain significance Single submitter
- EGLN2 p.Ala163Ser Uncertain significance Single submitter
- EGLN2 p.Ala169Ser Uncertain significance Single submitter
- EGLN2 p.Ala200Ser Uncertain significance Single submitter
- EGLN2 p.Ala208Gly Uncertain significance Single submitter
- EGLN2 p.Ala229Pro Uncertain significance Single submitter
- EGLN2 p.Ala229Thr Uncertain significance Single submitter
- EGLN2 p.Ala255Ser Uncertain significance Single submitter
- EGLN2 p.Ala255Val Uncertain significance Single submitter
- EGLN2 p.Ala258Ser Uncertain significance Single submitter
- EGLN2 p.Ala258Thr Uncertain significance Single submitter
- EGLN2 p.Ala268Thr Uncertain significance Single submitter
- EGLN2 p.Ala282Thr Uncertain significance Single submitter
- EGLN2 p.Ala32Pro Uncertain significance Single submitter
- EGLN2 p.Ala369Thr Uncertain significance Single submitter
- EGLN2 p.Ala377Val Uncertain significance Single submitter
- EGLN2 p.Ala390Gly Uncertain significance Single submitter
- EGLN2 p.Ala57Ser Uncertain significance Single submitter
- EGLN2 p.Ala59Thr Uncertain significance Single submitter
- EGLN2 p.Ala59Val Uncertain significance Single submitter
- EGLN2 p.Ala73Thr Uncertain significance Single submitter
- EGLN2 p.Ala73Val Uncertain significance Single submitter
- EGLN2 p.Ala96Val Uncertain significance Single submitter
- EGLN2 p.Ala98Thr Uncertain significance Single submitter
- EGLN2 p.Arg106Gln Uncertain significance Single submitter
- EGLN2 p.Arg113Gln Uncertain significance Single submitter
- EGLN2 p.Arg113Trp Uncertain significance Single submitter
- EGLN2 p.Arg119Gln Uncertain significance Single submitter
- EGLN2 p.Arg134Gln Uncertain significance Single submitter
- EGLN2 p.Arg134Trp Uncertain significance Single submitter
- EGLN2 p.Arg138Lys Uncertain significance Single submitter
- EGLN2 p.Arg146Leu Uncertain significance Single submitter
- EGLN2 p.Arg146Trp Uncertain significance Single submitter
- EGLN2 p.Arg176Leu Uncertain significance Single submitter
- EGLN2 p.Arg176Ser Uncertain significance Single submitter
- EGLN2 p.Arg205Cys Uncertain significance Single submitter
- EGLN2 p.Arg205His Uncertain significance Single submitter
- EGLN2 p.Arg205Leu Uncertain significance Single submitter
- EGLN2 p.Arg215Gln Uncertain significance Single submitter
- EGLN2 p.Arg218His Uncertain significance Single submitter
- EGLN2 p.Arg233His Uncertain significance Single submitter
- EGLN2 p.Arg251Gln Uncertain significance Single submitter
- EGLN2 p.Arg251Gly Uncertain significance Single submitter
- EGLN2 p.Arg265His Uncertain significance Single submitter
- EGLN2 p.Arg265Leu Uncertain significance Single submitter
- EGLN2 p.Arg279Cys Uncertain significance Single submitter
- EGLN2 p.Arg306His Uncertain significance Single submitter
- EGLN2 p.Arg31Gln Uncertain significance Single submitter
- EGLN2 p.Arg31Gly Uncertain significance Single submitter
- EGLN2 p.Arg31Trp Uncertain significance Single submitter
- EGLN2 p.Arg33Gly Uncertain significance Single submitter
- EGLN2 p.Arg33Ser Uncertain significance Single submitter
- EGLN2 p.Arg346Gln Uncertain significance Single submitter
- EGLN2 p.Arg354Gly Uncertain significance Single submitter
- EGLN2 p.Arg354Trp Uncertain significance Single submitter
- EGLN2 p.Arg77Gln Uncertain significance Single submitter
- EGLN2 p.Arg77Leu Uncertain significance Single submitter
- EGLN2 p.Arg89Pro Uncertain significance Single submitter
- EGLN2 p.Asn141Asp Uncertain significance Single submitter
- EGLN2 p.Asn277Lys Uncertain significance Single submitter
- EGLN2 p.Asn277Ser Uncertain significance Single submitter
- EGLN2 p.Asn290Ser Uncertain significance Single submitter
- EGLN2 p.Asn290Thr Uncertain significance Single submitter
- EGLN2 p.Asn300Ser Uncertain significance Single submitter
- EGLN2 p.Asn317Lys Uncertain significance Single submitter
- EGLN2 p.Asn317Ser Uncertain significance Single submitter
- EGLN2 p.Asn356Ser Uncertain significance Single submitter
- EGLN2 p.Asp124Gly Uncertain significance Single submitter
- EGLN2 p.Asp124Val Uncertain significance Single submitter
- EGLN2 p.Asp127Asn Uncertain significance Single submitter
- EGLN2 p.Asp127Glu Uncertain significance Single submitter
- EGLN2 p.Asp180Asn Uncertain significance Single submitter
- EGLN2 p.Asp180Glu Uncertain significance Single submitter
- EGLN2 p.Asp221Glu Uncertain significance Single submitter
- EGLN2 p.Asp2Gly Uncertain significance Single submitter
- EGLN2 p.Asp78Val Uncertain significance Single submitter
- EGLN2 p.Asp84Asn Uncertain significance Single submitter
- EGLN2 p.Asp84Glu Uncertain significance Single submitter
- EGLN2 p.Cys104Phe Uncertain significance Single submitter
- EGLN2 p.Cys154Tyr Uncertain significance Single submitter
- EGLN2 p.Cys267Arg Uncertain significance Single submitter
- EGLN2 p.Cys267Phe Uncertain significance Single submitter
- EGLN2 p.Cys42Tyr Uncertain significance Single submitter
- EGLN2 p.Cys50Gly Uncertain significance Single submitter
- EGLN2 p.Cys50Ser Uncertain significance Single submitter
- EGLN2 p.Cys5Trp Uncertain significance Single submitter
- EGLN2 p.Gln110Lys Uncertain significance Single submitter
- EGLN2 p.Gln110Pro Uncertain significance Single submitter
- EGLN2 p.Gln12Pro Uncertain significance Single submitter
- EGLN2 p.Gln142Arg Uncertain significance Single submitter
- EGLN2 p.Gln142Glu Uncertain significance Single submitter
- EGLN2 p.Gln16Lys Uncertain significance Single submitter
- EGLN2 p.Gln388Arg Uncertain significance Single submitter
- EGLN2 p.Gln388Glu Uncertain significance Single submitter
- EGLN2 p.Gln388Lys Uncertain significance Single submitter
- EGLN2 p.Gln6Arg Uncertain significance Single submitter
- EGLN2 p.Gln83Glu Uncertain significance Single submitter
- EGLN2 p.Gln83His Uncertain significance Single submitter
- EGLN2 p.Gln8His Uncertain significance Single submitter
- EGLN2 p.Glu143Gly Uncertain significance Single submitter
- EGLN2 p.Glu143Lys Uncertain significance Single submitter
- EGLN2 p.Glu143Val Uncertain significance Single submitter
- EGLN2 p.Glu145Gln Uncertain significance Single submitter
- EGLN2 p.Glu145Gly Uncertain significance Single submitter
- EGLN2 p.Glu147Gly Uncertain significance Single submitter
- EGLN2 p.Glu160Asp Uncertain significance Single submitter
- EGLN2 p.Glu175Gln Uncertain significance Single submitter
- EGLN2 p.Glu209Val Uncertain significance Single submitter
- EGLN2 p.Glu23Asp Uncertain significance Single submitter
- EGLN2 p.Glu26Gly Uncertain significance Single submitter
- EGLN2 p.Glu26Lys Uncertain significance Single submitter
- EGLN2 p.Glu28Asp Uncertain significance Single submitter
- EGLN2 p.Glu359Lys Uncertain significance Single submitter
- EGLN2 p.Glu56Asp Uncertain significance Single submitter
- EGLN2 p.Glu56Lys Uncertain significance Single submitter
- EGLN2 p.Gly111Cys Uncertain significance Single submitter
- EGLN2 p.Gly125Val Uncertain significance Single submitter
- EGLN2 p.Gly148Ser Uncertain significance Single submitter
- EGLN2 p.Gly149Ser Uncertain significance Single submitter
- EGLN2 p.Gly157Ser Uncertain significance Single submitter
- EGLN2 p.Gly159Asp Uncertain significance Single submitter
- EGLN2 p.Gly164Glu Uncertain significance Single submitter
- EGLN2 p.Gly164Trp Uncertain significance Single submitter
- EGLN2 p.Gly164Val Uncertain significance Single submitter
- EGLN2 p.Gly19Arg Uncertain significance Single submitter
- EGLN2 p.Gly216Ala Uncertain significance Single submitter
- EGLN2 p.Gly216Arg Uncertain significance Single submitter
- EGLN2 p.Gly222Arg Uncertain significance Single submitter
- EGLN2 p.Gly222Glu Uncertain significance Single submitter
- EGLN2 p.Gly245Asp Uncertain significance Single submitter
- EGLN2 p.Gly254Ser Uncertain significance Single submitter
- EGLN2 p.Gly269Glu Uncertain significance Single submitter
-
EGLN2 p.Gly278Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EGLN2 p.Gly289Ser Uncertain significance Single submitter
- EGLN2 p.Gly305Glu Uncertain significance Single submitter
- EGLN2 p.Gly30Asp Uncertain significance Single submitter
- EGLN2 p.Gly333Val Uncertain significance Single submitter
- EGLN2 p.Gly395Ser Uncertain significance Single submitter
- EGLN2 p.Gly52Ala Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- EGLN2 p.Ala262Thr Uncertain significance Single submitter
- EGLN2 p.Ala262Val Uncertain significance Single submitter
- EGLN2 p.Ala363Val Uncertain significance Single submitter
- EGLN2 p.Ala365Val Uncertain significance Single submitter
- EGLN2 p.Ala381Thr Uncertain significance Single submitter
- EGLN2 p.Arg119Trp Uncertain significance Single submitter
- EGLN2 p.Arg176Cys Uncertain significance Single submitter
- EGLN2 p.Arg228Met Uncertain significance Single submitter
- EGLN2 p.Asn339Lys Uncertain significance Single submitter
- EGLN2 p.Asp195Asn Uncertain significance Single submitter
- EGLN2 p.Asp195Glu Uncertain significance Single submitter
- EGLN2 p.Cys104Arg Uncertain significance Single submitter
- EGLN2 p.Gln239His Uncertain significance Single submitter
- EGLN2 p.Glu209Ala Uncertain significance Single submitter
- EGLN2 p.Glu209Lys Uncertain significance Single submitter
- EGLN2 p.Glu341Asp Uncertain significance Single submitter
- EGLN2 p.Gly249Asp Uncertain significance Single submitter
- EGLN2 p.Gly272Asp Uncertain significance Single submitter
- EGLN2 p.His302Arg Uncertain significance Single submitter
- EGLN2 p.Ile191Met Uncertain significance Single submitter
- EGLN2 p.Leu179Pro Uncertain significance Single submitter
- EGLN2 p.Leu202Pro Uncertain significance Single submitter
- EGLN2 p.Lys118Asn Uncertain significance Single submitter
- EGLN2 p.Lys281Gln Uncertain significance Single submitter
- EGLN2 p.Met257Ile Uncertain significance Single submitter
- EGLN2 p.Met34Ile Uncertain significance Single submitter
- EGLN2 p.Phe197Leu Uncertain significance Single submitter
- EGLN2 p.Pro335Leu Uncertain significance Single submitter
- EGLN2 p.Ser226Asn Uncertain significance Single submitter
- EGLN2 p.Ser252Arg Uncertain significance Single submitter
- EGLN2 p.Ser273Ile Uncertain significance Single submitter
- EGLN2 p.Tyr189Cys Uncertain significance Single submitter
- EGLN2 p.Tyr274His Uncertain significance Single submitter
- EGLN2 p.Tyr274Ser Uncertain significance Single submitter
- EGLN2 p.Val206Met Uncertain significance Single submitter
- EGLN2 p.Val210Ala Uncertain significance Single submitter
- EGLN2 p.Val243Met Uncertain significance Single submitter
All EGLN2 variants
Benign 17
- c.1100+23C>A Multiple submitters
- c.844-141G>A Multiple submitters
- c.844-199G>A Multiple submitters
- c.963+33G>C Multiple submitters
- c.-116G>A Multiple submitters
- c.-234-10C>T Multiple submitters
- c.-234-504A>G Multiple submitters
- c.-235+140G>T Multiple submitters
- p.Gly111= Multiple submitters
- p.Pro231= Multiple submitters
- p.Ser58Leu Multiple submitters
- c.-234-12del Single submitter
- c.-234-175C>T Single submitter
- c.-234-415_-234-414del Single submitter
- c.-234-447_-234-444del Single submitter
- c.-235+84G>A Single submitter
- c.-235+85dup Single submitter
Benign/Likely benign 2
- p.Ala383= Multiple submitters
- p.Glu26Asp Multiple submitters
Likely benign 215
- c.963+5GGGTGA[4] Single submitter
- c.964-7C>A Single submitter
- p.Ala116= Single submitter
- p.Ala122= Single submitter
- p.Ala128= Single submitter
- p.Ala13= Single submitter
- p.Ala137= Single submitter
- p.Ala144= Single submitter
- p.Ala161= Single submitter
- p.Ala169= Single submitter
- p.Ala173= Single submitter
- p.Ala178= Single submitter
- p.Ala200= Single submitter
- p.Ala208= Single submitter
- p.Ala212= Single submitter
- p.Ala229= Single submitter
- p.Ala241= Single submitter
- p.Ala255= Single submitter
- p.Ala258= Single submitter
- p.Ala262= Single submitter
- p.Ala268= Single submitter Inborn genetic diseases
- p.Ala285= Single submitter
- p.Ala363= Single submitter
- p.Ala365= Single submitter
- p.Ala381= Single submitter
- p.Ala390= Single submitter
- p.Ala57= Single submitter
- p.Ala68= Single submitter
- p.Ala73= Single submitter
- p.Ala96= Single submitter
- p.Ala98= Single submitter
- p.Arg113= Single submitter
- p.Arg134= Single submitter
- p.Arg138= Single submitter
- p.Arg187= Single submitter
- p.Arg205= Single submitter
- p.Arg215= Single submitter
- p.Arg220= Single submitter
- p.Arg233= Single submitter
- p.Arg265= Single submitter
- p.Arg296= Single submitter
- p.Arg31= Single submitter
- p.Arg346= Single submitter
- p.Arg354= Single submitter
- p.Asn277= Single submitter
- p.Asn290= Single submitter
- p.Asn339= Single submitter
- p.Asn356= Single submitter
- p.Asp180= Single submitter
- p.Asp195= Single submitter
- p.Asp221= Single submitter
- p.Asp261= Single submitter
- p.Asp319= Single submitter
- p.Asp353= Single submitter
- p.Cys152= Single submitter
- p.Cys154= Single submitter
- p.Cys192= Single submitter
- p.Cys267= Single submitter
- p.Cys42= Single submitter
- p.Gln105= Single submitter
- p.Gln139= Single submitter
- p.Gln142= Single submitter
- p.Gln227= Single submitter
- p.Gln316= Single submitter
- p.Gln393= Single submitter
- p.Gln83= Single submitter
- p.Gln92= Single submitter
- p.Glu115= Single submitter
- p.Glu143= Single submitter
- p.Glu145= Single submitter
- p.Glu168= Single submitter
- p.Glu175= Single submitter
- p.Glu209= Single submitter
- p.Glu211= Single submitter
- p.Glu23= Single submitter
- p.Glu244= Single submitter
- p.Glu28= Single submitter
- p.Glu359= Single submitter
- p.Gly103= Single submitter
- p.Gly125= Single submitter
- p.Gly157= Single submitter
- p.Gly159= Single submitter
- p.Gly164= Single submitter
- p.Gly19= Single submitter
- p.Gly203= Single submitter
- p.Gly217= Single submitter
- p.Gly222= Single submitter
- p.Gly278= Single submitter
- p.Gly289= Single submitter
- p.Gly293= Single submitter
- p.Gly30= Single submitter
- p.Gly305= Single submitter
- p.Gly324= Single submitter
- p.Gly325= Single submitter
- p.Gly35= Single submitter
- p.Gly395= Single submitter
- p.Gly60= Single submitter
- p.Gly81= Single submitter
- p.Gly95= Single submitter
- p.His246= Single submitter
- p.His259= Single submitter
- p.His266= Single submitter
- p.His297= Single submitter
- p.His302= Single submitter
- p.His358= Single submitter
- p.Ile182= Single submitter
- p.Ile240= Single submitter
- p.Ile264= Single submitter
- p.Ile276= Single submitter
- p.Ile329= Single submitter
- p.Ile340= Single submitter
- p.Leu10= Single submitter
- p.Leu14= Single submitter
- p.Leu165= Single submitter
- p.Leu17= Single submitter
- p.Leu170= Single submitter
- p.Leu177= Single submitter
- p.Leu179= Single submitter
- p.Leu198= Single submitter
- p.Leu202= Single submitter
- p.Leu207= Single submitter
- p.Leu213= Single submitter
- p.Leu219= Single submitter
- p.Leu224= Single submitter
- p.Leu25= Single submitter
- p.Leu271= Single submitter
- p.Leu292= Single submitter
- p.Leu314= Single submitter
- p.Leu326= Single submitter
- p.Leu343= Single submitter
- p.Leu347= Single submitter
- p.Leu348= Single submitter
- p.Leu40= Single submitter
- p.Leu44= Single submitter
- p.Leu88= Single submitter
- p.Leu91= Single submitter
- p.Leu99= Single submitter
- p.Lys102= Single submitter
- p.Lys120= Single submitter
- p.Lys194= Single submitter
- p.Lys361= Single submitter
- p.Lys386= Single submitter
- p.Phe197= Single submitter
- p.Phe330= Single submitter
- p.Phe350= Single submitter
- p.Pro114= Single submitter
- p.Pro117= Single submitter
- p.Pro15= Single submitter
- p.Pro171= Single submitter
- p.Pro174= Single submitter
- p.Pro18= Single submitter
- p.Pro184= Single submitter
- p.Pro232= Single submitter
- p.Pro248= Single submitter
- p.Pro27= Single submitter
- p.Pro288= Single submitter
- p.Pro29= Single submitter
- p.Pro301= Single submitter
- p.Pro335= Single submitter
- p.Pro342= Single submitter
- p.Pro362= Single submitter
- p.Pro4= Single submitter
- p.Pro403= Single submitter
- p.Pro41= Single submitter
- p.Pro43= Single submitter
- p.Pro46= Single submitter
- p.Pro51= Single submitter
- p.Pro64= Single submitter
- p.Pro7= Single submitter
- p.Pro75= Single submitter
- p.Pro9= Single submitter
- p.Pro90= Single submitter
- p.Ser11= Single submitter
- p.Ser130= Single submitter
- p.Ser153= Single submitter
- p.Ser153Gly Single submitter
- p.Ser155= Single submitter
- p.Ser20= Single submitter
- p.Ser21= Single submitter
- p.Ser22= Single submitter
- p.Ser273= Single submitter
- p.Ser3= Single submitter
- p.Ser352= Single submitter
- p.Ser47= Single submitter
- p.Ser55Gly Single submitter
- p.Ser58= Single submitter
- p.Ser70= Single submitter
- p.Ser93= Single submitter
- p.Thr280= Single submitter
- p.Thr309= Single submitter
- p.Thr366= Single submitter
- p.Thr405= Single submitter
- p.Thr405Met Single submitter
- p.Thr63= Single submitter
- p.Thr69= Single submitter
- p.Thr71= Single submitter
- p.Tyr188= Single submitter
- p.Tyr189= Single submitter
- p.Tyr274= Single submitter
- p.Tyr294= Single submitter
- p.Tyr312= Single submitter
- p.Tyr368= Single submitter
- p.Tyr39= Single submitter
- p.Tyr48= Single submitter
- p.Val100= Single submitter
- p.Val183= Single submitter
- p.Val210= Single submitter
- p.Val225= Single submitter
- p.Val243= Single submitter
- p.Val260= Single submitter
- p.Val295= Single submitter
- p.Val372= Single submitter
- p.Val396= Single submitter
- p.Val398= Single submitter
- p.Val53Ala Single submitter
Uncertain significance 324
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala137Thr Multiple submitters ⚠
- p.Arg236Cys Multiple submitters ⚠
- p.Arg306Cys Multiple submitters ⚠
- p.Ala108Thr Single submitter ⚠
- p.Ala109Ser Single submitter ⚠
- p.Ala112Gly Single submitter ⚠
- p.Ala112Thr Single submitter ⚠
- p.Ala112Val Single submitter ⚠
- p.Ala116Gly Single submitter ⚠
- p.Ala116Thr Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala161Gly Single submitter ⚠
- p.Ala163Ser Single submitter ⚠
- p.Ala169Ser Single submitter ⚠
- p.Ala200Ser Single submitter ⚠
- p.Ala208Gly Single submitter ⚠
- p.Ala229Pro Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala255Ser Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala258Ser Single submitter ⚠
- p.Ala258Thr Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala268Thr Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala32Pro Single submitter ⚠
- p.Ala363Val Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala369Thr Single submitter ⚠
- p.Ala377Val Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala390Gly Single submitter ⚠
- p.Ala57Ser Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Trp Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg138Lys Single submitter ⚠
- p.Arg146Leu Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg176Leu Single submitter ⚠
- p.Arg176Ser Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg205His Single submitter ⚠
- p.Arg205Leu Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg218His Single submitter ⚠
- p.Arg228Met Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg251Gly Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg265Leu Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg306His Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg31Gly Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg334Trp Single submitter
- p.Arg33Gly Single submitter ⚠
- p.Arg33Ser Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg354Gly Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg77Leu Single submitter ⚠
- p.Arg89Pro Single submitter ⚠
- p.Asn141Asp Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn290Thr Single submitter ⚠
- p.Asn300Ser Single submitter ⚠
- p.Asn317Lys Single submitter ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asn339Lys Single submitter ⚠
- p.Asn356Ser Single submitter ⚠
- p.Asp124Gly Single submitter ⚠
- p.Asp124Val Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp127Glu Single submitter ⚠
- p.Asp180Asn Single submitter ⚠
- p.Asp180Glu Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp195Glu Single submitter ⚠
- p.Asp221Glu Single submitter ⚠
- p.Asp2Gly Single submitter ⚠
- p.Asp78Val Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Asp84Glu Single submitter ⚠
- p.Cys104Arg Single submitter ⚠
- p.Cys104Phe Single submitter ⚠
- p.Cys154Tyr Single submitter ⚠
- p.Cys267Arg Single submitter ⚠
- p.Cys267Phe Single submitter ⚠
- p.Cys42Tyr Single submitter ⚠
- p.Cys50Gly Single submitter ⚠
- p.Cys50Ser Single submitter ⚠
- p.Cys5Trp Single submitter ⚠
- p.Gln110Lys Single submitter ⚠
- p.Gln110Pro Single submitter ⚠
- p.Gln12Pro Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gln142Glu Single submitter ⚠
- p.Gln16Lys Single submitter ⚠
- p.Gln239His Single submitter ⚠
- p.Gln388Arg Single submitter ⚠
- p.Gln388Glu Single submitter ⚠
- p.Gln388Lys Single submitter ⚠
- p.Gln6Arg Single submitter ⚠
- p.Gln83Glu Single submitter ⚠
- p.Gln83His Single submitter ⚠
- p.Gln8His Single submitter ⚠
- p.Glu143Gly Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu143Val Single submitter ⚠
- p.Glu145Gln Single submitter ⚠
- p.Glu145Gly Single submitter ⚠
- p.Glu147Gly Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.Glu175Gln Single submitter ⚠
- p.Glu209Ala Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu209Val Single submitter ⚠
- p.Glu23Asp Single submitter ⚠
- p.Glu26Gly Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu28Asp Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu359Lys Single submitter ⚠
- p.Glu56Asp Single submitter ⚠
- p.Glu56Lys Single submitter ⚠
- p.Gly111Cys Single submitter ⚠
- p.Gly125Val Single submitter ⚠
- p.Gly148Ser Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly159Asp Single submitter ⚠
- p.Gly164Glu Single submitter ⚠
- p.Gly164Trp Single submitter ⚠
- p.Gly164Val Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly216Ala Single submitter ⚠
- p.Gly216Arg Single submitter ⚠
- p.Gly222Arg Single submitter ⚠
- p.Gly222Glu Single submitter ⚠
- p.Gly245Asp Single submitter ⚠
- p.Gly249Asp Single submitter ⚠
- p.Gly254Ser Single submitter ⚠
- p.Gly269Glu Single submitter ⚠
- p.Gly272Asp Single submitter ⚠
- p.Gly278Arg Single submitter Inborn genetic diseases ⚠
- p.Gly289Ser Single submitter ⚠
- p.Gly305Glu Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly333Val Single submitter ⚠
- p.Gly395Ser Single submitter ⚠
- p.Gly52Ala Single submitter ⚠
- p.Gly52Glu Single submitter ⚠
- p.Gly79Ala Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.Gly79Ser Single submitter ⚠
- p.Gly81Asp Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.His246Arg Single submitter ⚠
- p.His246Asp Single submitter ⚠
- p.His259Asn Single submitter ⚠
- p.His259Gln Single submitter ⚠
- p.His259Leu Single submitter ⚠
- p.His266Arg Single submitter ⚠
- p.His266Gln Single submitter ⚠
- p.His266Pro Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.His49Gln Single submitter ⚠
- p.His49Tyr Single submitter ⚠
- p.Ile191Met Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Ile240Thr Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Ile276Val Single submitter
- p.Ile308Asn Single submitter ⚠
- p.Ile308Val Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu179Pro Single submitter ⚠
- p.Leu17Ser Single submitter ⚠
- p.Leu202Pro Single submitter ⚠
- p.Leu202Val Single submitter ⚠
- p.Leu256Val Single submitter ⚠
- p.Leu25Val Single submitter ⚠
- p.Leu271Arg Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Leu76Phe Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Lys102Gln Single submitter ⚠
- p.Lys118Asn Single submitter ⚠
- p.Lys120Gln Single submitter ⚠
- p.Lys133Glu Single submitter ⚠
- p.Lys133Thr Single submitter Inborn genetic diseases ⚠
- p.Lys194Arg Single submitter ⚠
- p.Lys214Arg Single submitter ⚠
- p.Lys214Asn Single submitter ⚠
- p.Lys281Gln Single submitter ⚠
- p.Lys321Met Single submitter ⚠
- p.Met150Val Single submitter ⚠
- p.Met166Thr Single submitter ⚠
- p.Met257Ile Single submitter ⚠
- p.Met257Val Single submitter
- p.Met34Ile Single submitter ⚠
- p.Phe197Leu Single submitter ⚠
- p.Pro114Arg Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro184His Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro248Leu Single submitter ⚠
- p.Pro248Ser Single submitter ⚠
- p.Pro27Arg Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro331Ser Single submitter ⚠
- p.Pro335His Single submitter ⚠
- p.Pro335Leu Single submitter ⚠
- p.Pro342Leu Single submitter ⚠
- p.Pro399Arg Single submitter ⚠
- p.Pro399Leu Single submitter ⚠
- p.Pro403Leu Single submitter ⚠
- p.Pro406Leu Single submitter ⚠
- p.Pro406Ser Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro43His Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Pro4Thr Single submitter ⚠
- p.Pro51Ala Single submitter ⚠
- p.Pro51Arg Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro64Arg Single submitter ⚠
- p.Pro75Arg Single submitter ⚠
- p.Pro7Ala Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Pro9Ala Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser11Thr Single submitter ⚠
- p.Ser130Leu Single submitter ⚠
- p.Ser132Arg Single submitter ⚠
- p.Ser132Gly Single submitter ⚠
- p.Ser151Ile Single submitter ⚠
- p.Ser153Asn Single submitter ⚠
- p.Ser155Cys Single submitter ⚠
- p.Ser156Arg Single submitter ⚠
- p.Ser156Gly Single submitter ⚠
- p.Ser158Gly Single submitter ⚠
- p.Ser196Asn Single submitter ⚠
- p.Ser196Thr Single submitter ⚠
- p.Ser20Cys Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser20Pro Single submitter ⚠
- p.Ser226Asn Single submitter ⚠
- p.Ser252Arg Single submitter ⚠
- p.Ser252Gly Single submitter ⚠
- p.Ser273Arg Single submitter ⚠
- p.Ser273Ile Single submitter ⚠
- p.Ser352Ala Single submitter ⚠
- p.Ser3Gly Single submitter ⚠
- p.Ser401Leu Single submitter ⚠
- p.Ser47Ala Single submitter ⚠
- p.Ser70Cys Single submitter ⚠
- p.Ser70Phe Single submitter ⚠
- p.Thr101Ser Single submitter ⚠
- p.Thr280Ala Single submitter ⚠
- p.Thr280Ser Single submitter ⚠
- p.Thr366Ile Single submitter
- p.Thr407Ser Single submitter ⚠
- p.Thr69Asn Single submitter ⚠
- p.Thr69Ile Single submitter ⚠
- p.Thr72Ile Single submitter ⚠
- p.Trp121Arg Single submitter ⚠
- p.Trp121Gly Single submitter ⚠