ABRAXAS1 — 926 ClinVar variants
All ClinVar germline ABRAXAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 543 flagged for review →
36 Conflicting · 34 Benign · 9 Benign/Likely benign · 258 Likely benign · 589 Uncertain significance
Full ABRAXAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 543
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 27
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ABRAXAS1 p.Ala220Thr Conflicting Single submitter
- ABRAXAS1 p.Ala372Pro Conflicting Single submitter
- ABRAXAS1 p.Arg193Gln Conflicting Single submitter
- ABRAXAS1 p.Arg252Gln Conflicting Single submitter
- ABRAXAS1 p.Arg361Gln Conflicting Single submitter
- ABRAXAS1 p.Arg405Gln Conflicting Single submitter
- ABRAXAS1 p.Asn314Ser Conflicting Single submitter
- ABRAXAS1 p.Asp318Asn Conflicting Single submitter
-
ABRAXAS1 p.Asp364Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
- ABRAXAS1 p.Gln122Glu Conflicting Single submitter
- ABRAXAS1 p.Gln263Glu Conflicting Single submitter
- ABRAXAS1 p.Gly375Asp Conflicting Single submitter
- ABRAXAS1 p.His329Arg Conflicting Single submitter
- ABRAXAS1 p.His329Tyr Conflicting Single submitter
- ABRAXAS1 p.Ile109Met Conflicting Single submitter
- ABRAXAS1 p.Lys201Glu Conflicting Single submitter
- ABRAXAS1 p.Lys227Thr Conflicting Single submitter
- ABRAXAS1 p.Lys384Asn Conflicting Single submitter
-
ABRAXAS1 p.Lys42Arg
Conflicting
Single submitter
hereditary neoplastic syndrome
- ABRAXAS1 p.Phe125Leu Conflicting Single submitter
-
ABRAXAS1 p.Pro341Leu
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
- ABRAXAS1 p.Ser192Asn Conflicting Single submitter
- ABRAXAS1 p.Ser376Gly Conflicting Single submitter
- ABRAXAS1 p.Ser7Leu Conflicting Single submitter
- ABRAXAS1 p.Thr340Ile Conflicting Single submitter
- ABRAXAS1 p.Val306Leu Conflicting Single submitter
- ABRAXAS1 p.Val320Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 427
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 427
- ABRAXAS1 p.Ala194Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala220Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala260Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala265Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala338Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala382Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala84Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala8Glu Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg104His Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg148Gln Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg148Leu Uncertain significance Multiple submitters
-
ABRAXAS1 p.Arg249Ser
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- ABRAXAS1 p.Arg285Gln Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg304Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg361Pro Uncertain significance Multiple submitters
-
ABRAXAS1 p.Arg369Gln
Uncertain significance
Multiple submitters
breast cancer
- ABRAXAS1 p.Arg369Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg405Trp Uncertain significance Multiple submitters
- ABRAXAS1 p.Asn303Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Asn322Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Asn43Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Asn91Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp26Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp28His Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp352Glu Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp353Gly Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp380Gly Uncertain significance Multiple submitters
- ABRAXAS1 p.Cys144Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Cys297Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Cys297Phe Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln261Glu Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln282Glu Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln282His Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln356Lys Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln366Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu114Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu123Gly Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu276Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu2Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu2Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu4Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Glu4Gly Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly16Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly178Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly207Glu Uncertain significance Multiple submitters
-
ABRAXAS1 p.Gly35Arg
Uncertain significance
Multiple submitters
Hereditary breast cancer, ABRAXAS1-related
- ABRAXAS1 p.Gly375Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly375Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly3Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly78Asp Uncertain significance Multiple submitters
- ABRAXAS1 p.His22Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.His305Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.His305Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.His305Gln Uncertain significance Multiple submitters
-
ABRAXAS1 p.His346Tyr
Uncertain significance
Multiple submitters
ABRAXAS1-related disorder
-
ABRAXAS1 p.Ile215Leu
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- ABRAXAS1 p.Ile229Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile254Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile278Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile278Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile278Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile394Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile394Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile59Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.Ile59Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu10Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu10Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu117Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu15Phe Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu15Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu23Phe Uncertain significance Multiple submitters
- ABRAXAS1 p.Leu243Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys201Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys201Gln Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys245Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys38Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys93Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Met299Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Met385Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Phe279Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Phe279Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Pro137Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Pro274Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Pro274Ser Uncertain significance Multiple submitters
- ABRAXAS1 p.Pro388Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Pro388Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser11Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser11Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser145Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser145Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser199Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser199Asn Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser221Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser27Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser291Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser307Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser309Asn Uncertain significance Multiple submitters
-
ABRAXAS1 p.Ser370Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- ABRAXAS1 p.Ser383Phe Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser383Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser404Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser406Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser5Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser5Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Thr365Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Thr408Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Thr6Met Uncertain significance Multiple submitters
- ABRAXAS1 p.Trp355Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Tyr179Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Tyr64His Uncertain significance Multiple submitters
- ABRAXAS1 p.Val164Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Val167Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Val195Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Val298Leu Uncertain significance Multiple submitters
- ABRAXAS1 p.Val97Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala169Thr Uncertain significance Single submitter
- ABRAXAS1 p.Ala17Ser Uncertain significance Single submitter
- ABRAXAS1 p.Ala194Val Uncertain significance Single submitter
- ABRAXAS1 p.Ala19Gly Uncertain significance Single submitter
- ABRAXAS1 p.Ala19Ser Uncertain significance Single submitter
- ABRAXAS1 p.Ala239Thr Uncertain significance Single submitter
- ABRAXAS1 p.Ala260Val Uncertain significance Single submitter
- ABRAXAS1 p.Ala283Thr Uncertain significance Single submitter
- ABRAXAS1 p.Ala335Thr Uncertain significance Single submitter
- ABRAXAS1 p.Ala335Val Uncertain significance Single submitter
- ABRAXAS1 p.Ala338Gly Uncertain significance Single submitter
- ABRAXAS1 p.Ala348Gly Uncertain significance Single submitter
- ABRAXAS1 p.Ala372Glu Uncertain significance Single submitter
- ABRAXAS1 p.Ala382Gly Uncertain significance Single submitter
- ABRAXAS1 p.Ala84Val Uncertain significance Single submitter
- ABRAXAS1 p.Ala8Gly Uncertain significance Single submitter
- ABRAXAS1 p.Ala8Val Uncertain significance Single submitter
- ABRAXAS1 p.Arg103Gly Uncertain significance Single submitter
- ABRAXAS1 p.Arg113Thr Uncertain significance Single submitter
- ABRAXAS1 p.Arg115Lys Uncertain significance Single submitter
- ABRAXAS1 p.Arg163Ser Uncertain significance Single submitter
- ABRAXAS1 p.Arg193Gly Uncertain significance Single submitter
- ABRAXAS1 p.Arg193Leu Uncertain significance Single submitter
- ABRAXAS1 p.Arg249Ile Uncertain significance Single submitter
- ABRAXAS1 p.Arg249Lys Uncertain significance Single submitter
- ABRAXAS1 p.Arg257Gly Uncertain significance Single submitter
- ABRAXAS1 p.Arg257Met Uncertain significance Single submitter
- ABRAXAS1 p.Arg258Thr Uncertain significance Single submitter
- ABRAXAS1 p.Arg361Leu Uncertain significance Single submitter
- ABRAXAS1 p.Asn120Lys Uncertain significance Single submitter
- ABRAXAS1 p.Asn120Ser Uncertain significance Single submitter
- ABRAXAS1 p.Asn127Lys Uncertain significance Single submitter
- ABRAXAS1 p.Asn170Asp Uncertain significance Single submitter
- ABRAXAS1 p.Asn170His Uncertain significance Single submitter
- ABRAXAS1 p.Asn170Ser Uncertain significance Single submitter
Predictors split 89
The independent predictors disagree with each other — read with care.
- ABRAXAS1 p.Ala17Pro Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala41Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala41Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Arg103Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Asn91Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Asp47His Uncertain significance Multiple submitters
- ABRAXAS1 p.Cys186Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Cys230Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Gln108Glu Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly39Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly3Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Gly3Trp Uncertain significance Multiple submitters
- ABRAXAS1 p.His22Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Lys158Ile Uncertain significance Multiple submitters
- ABRAXAS1 p.Met110Val Uncertain significance Multiple submitters
- ABRAXAS1 p.Met173Thr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser138Arg Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser152Tyr Uncertain significance Multiple submitters
- ABRAXAS1 p.Ser5Gly Uncertain significance Multiple submitters
- ABRAXAS1 p.Thr111Met Uncertain significance Multiple submitters
- ABRAXAS1 p.Thr146Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Tyr154Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Tyr219Cys Uncertain significance Multiple submitters
- ABRAXAS1 p.Val233Ala Uncertain significance Multiple submitters
- ABRAXAS1 p.Ala17Val Uncertain significance Single submitter
- ABRAXAS1 p.Ala194Pro Uncertain significance Single submitter
- ABRAXAS1 p.Ala260Pro Uncertain significance Single submitter
- ABRAXAS1 p.Ala265Pro Uncertain significance Single submitter
- ABRAXAS1 p.Ala84Pro Uncertain significance Single submitter
- ABRAXAS1 p.Arg103His Uncertain significance Single submitter
- ABRAXAS1 p.Arg103Leu Uncertain significance Single submitter
- ABRAXAS1 p.Arg115Ser Uncertain significance Single submitter
- ABRAXAS1 p.Arg285Trp Conflicting Single submitter
- ABRAXAS1 p.Arg361Trp Uncertain significance Single submitter
- ABRAXAS1 p.Asn120Ile Uncertain significance Single submitter
- ABRAXAS1 p.Asn120Tyr Uncertain significance Single submitter
- ABRAXAS1 p.Asn24Ile Uncertain significance Single submitter
- ABRAXAS1 p.Asn303Ile Uncertain significance Single submitter
- ABRAXAS1 p.Asn75Lys Uncertain significance Single submitter
- ABRAXAS1 p.Asp107Val Uncertain significance Single submitter
- ABRAXAS1 p.Asp206Glu Uncertain significance Single submitter
- ABRAXAS1 p.Asp246Val Uncertain significance Single submitter
- ABRAXAS1 p.Asp28Glu Uncertain significance Single submitter
- ABRAXAS1 p.Asp47Val Uncertain significance Single submitter
- ABRAXAS1 p.Asp60Glu Uncertain significance Single submitter
- ABRAXAS1 p.Cys230Tyr Uncertain significance Single submitter
- ABRAXAS1 p.Cys281Tyr Uncertain significance Single submitter
- ABRAXAS1 p.Gln122His Uncertain significance Single submitter
- ABRAXAS1 p.Gln21Leu Uncertain significance Single submitter
- ABRAXAS1 p.Gln62His Uncertain significance Single submitter
- ABRAXAS1 p.Glu150Lys Uncertain significance Single submitter
- ABRAXAS1 p.Glu237Gln Uncertain significance Single submitter
- ABRAXAS1 p.Glu4Lys Uncertain significance Single submitter
- ABRAXAS1 p.Gly159Arg Uncertain significance Single submitter
- ABRAXAS1 p.His118Gln Uncertain significance Single submitter
- ABRAXAS1 p.His124Asp Uncertain significance Single submitter
- ABRAXAS1 p.His213Pro Uncertain significance Single submitter
- ABRAXAS1 p.His295Arg Uncertain significance Single submitter
- ABRAXAS1 p.His295Asp Uncertain significance Single submitter
- ABRAXAS1 p.His295Tyr Uncertain significance Single submitter
- ABRAXAS1 p.Ile45Leu Uncertain significance Single submitter
- ABRAXAS1 p.Leu222Ser Uncertain significance Single submitter
- ABRAXAS1 p.Leu23Pro Uncertain significance Single submitter
- ABRAXAS1 p.Leu284Ser Uncertain significance Single submitter
- ABRAXAS1 p.Met218Thr Uncertain significance Single submitter
- ABRAXAS1 p.Phe102Leu Uncertain significance Single submitter
- ABRAXAS1 p.Phe13Leu Uncertain significance Single submitter
- ABRAXAS1 p.Phe20Ser Uncertain significance Single submitter
- ABRAXAS1 p.Phe32Leu Uncertain significance Single submitter
- ABRAXAS1 p.Pro289Ala Uncertain significance Single submitter
- ABRAXAS1 p.Ser208Phe Uncertain significance Single submitter
- ABRAXAS1 p.Ser208Pro Uncertain significance Single submitter
- ABRAXAS1 p.Ser221Pro Uncertain significance Single submitter
- ABRAXAS1 p.Ser236Arg Uncertain significance Single submitter
- ABRAXAS1 p.Ser72Arg Uncertain significance Single submitter
- ABRAXAS1 p.Ser7Pro Uncertain significance Single submitter
- ABRAXAS1 p.Thr25Arg Uncertain significance Single submitter
- ABRAXAS1 p.Thr25Met Uncertain significance Single submitter
- ABRAXAS1 p.Thr25Pro Uncertain significance Single submitter
- ABRAXAS1 p.Thr29Lys Uncertain significance Single submitter
- ABRAXAS1 p.Thr46Ile Uncertain significance Single submitter
- ABRAXAS1 p.Thr58Ala Uncertain significance Single submitter
- ABRAXAS1 p.Thr6Lys Uncertain significance Single submitter
- ABRAXAS1 p.Thr6Pro Uncertain significance Single submitter
- ABRAXAS1 p.Tyr74His Uncertain significance Single submitter
- ABRAXAS1 p.Val131Phe Uncertain significance Single submitter
- ABRAXAS1 p.Val14Met Uncertain significance Single submitter
- ABRAXAS1 p.Val212Leu Uncertain significance Single submitter
- ABRAXAS1 p.Val9Gly Uncertain significance Single submitter
All ABRAXAS1 variants
Conflicting classifications of pathogenicity 36
- c.476+5A>C Single submitter
- p.Ala220Thr Single submitter ⚠
- p.Ala338fs Single submitter
- p.Ala372Pro Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg193Ter Single submitter
- p.Arg252Gln Single submitter ⚠
- p.Arg285Trp Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg405Gln Single submitter ⚠
- p.Asn314Ser Single submitter ⚠
- p.Asp318Asn Single submitter ⚠
- p.Asp364Gly Single submitter hereditary neoplastic syndrome ⚠
- p.Gln122Glu Single submitter ⚠
- p.Gln263Glu Single submitter ⚠
- p.Glu276del Single submitter
- p.Gly159= Single submitter
- p.Gly375Asp Single submitter ⚠
- p.Gly78= Single submitter
- p.His329Arg Single submitter ⚠
- p.His329Tyr Single submitter ⚠
- p.Ile109Met Single submitter ⚠
- p.Lys201Glu Single submitter ⚠
- p.Lys227Thr Single submitter ⚠
- p.Lys384Asn Single submitter ⚠
- p.Lys42Arg Single submitter hereditary neoplastic syndrome ⚠
- p.Phe125Leu Single submitter ⚠
- p.Pro341Leu Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Ser192Asn Single submitter ⚠
- p.Ser199= Single submitter
- p.Ser370fs Single submitter hereditary neoplastic syndrome
- p.Ser376Gly Single submitter ⚠
- p.Ser7Leu Single submitter ⚠
- p.Thr340Ile Single submitter ⚠
- p.Val306Leu Single submitter ⚠
- p.Val320Ala Single submitter ⚠
Benign 34
- c.178+129C>A Multiple submitters
- c.215+206T>G Multiple submitters
- c.216-34G>A Multiple submitters hereditary neoplastic syndrome
- c.216-44T>C Multiple submitters hereditary neoplastic syndrome
- c.282+131A>T Multiple submitters
- c.283-108C>T Multiple submitters hereditary neoplastic syndrome
- c.476+18A>T Multiple submitters
- c.476+264C>G Multiple submitters
- c.477-259C>T Multiple submitters
- c.596+97T>C Multiple submitters
- c.681+132G>A Multiple submitters
- c.681+215T>C Multiple submitters
- c.682-107T>G Multiple submitters
- c.87+7C>T Multiple submitters
- p.Ala348Thr Multiple submitters hereditary neoplastic syndrome
- p.His198= Multiple submitters
- c.179-245G>A Single submitter
- c.179-37_179-33del Single submitter
- c.215+176C>T Single submitter
- c.477-180_477-179dup Single submitter
- c.597-224G>A Single submitter
- c.597-5dup Single submitter
- c.597-66_597-63del Single submitter
- c.597-70_597-67del Single submitter
- c.682-234G>A Single submitter
- c.682-306C>T Single submitter
- c.682-93A>C Single submitter
- c.796+235C>G Single submitter
- c.797-15T>A Single submitter
- c.87+45dup Single submitter
- c.87+48_87+49insC Single submitter
- c.88-94_88-93insC Single submitter
- c.88-95_88-94insC Single submitter
- c.*249del Single submitter
Benign/Likely benign 9
- c.-4T>C Multiple submitters
- p.Asn127= Multiple submitters
- p.Asp373Asn Multiple submitters hereditary neoplastic syndrome
- p.Gln21= Multiple submitters
- p.Glu82= Multiple submitters
- p.Leu317= Multiple submitters
- p.Thr141Ile Multiple submitters
- p.Thr6= Multiple submitters
- p.Val306Ala Multiple submitters
Likely benign 258
- c.178+9T>C Multiple submitters
- c.682-13_682-9del Multiple submitters hereditary neoplastic syndrome
- c.87+8G>C Multiple submitters
- c.88-7T>C Multiple submitters
- p.Ala17= Multiple submitters
- p.Ala194= Multiple submitters
- p.Ala260= Multiple submitters
- p.Ala348Ser Multiple submitters
- p.Arg113= Multiple submitters
- p.Arg359= Multiple submitters
- p.Arg405Pro Multiple submitters
- p.Asn24= Multiple submitters
- p.Asn303= Multiple submitters
- p.Asn314= Multiple submitters
- p.Asn322= Multiple submitters
- p.Asp26= Multiple submitters
- p.Asp47= Multiple submitters
- p.Gln271= Multiple submitters
- p.Glu123= Multiple submitters
- p.Glu2= Multiple submitters
- p.Glu255= Multiple submitters
- p.Glu402= Multiple submitters
- p.Gly12= Multiple submitters
- p.Gly259= Multiple submitters
- p.Gly259Ala Multiple submitters
- p.Gly3= Multiple submitters
- p.Gly35= Multiple submitters
- p.Gly375= Multiple submitters
- p.His105= Multiple submitters
- p.His22= Multiple submitters
- p.His305= Multiple submitters
- p.His346= Multiple submitters
- p.Ile109= Multiple submitters
- p.Leu116= Multiple submitters
- p.Leu15= Multiple submitters
- p.Leu226= Multiple submitters
- p.Leu34= Multiple submitters
- p.Leu351= Multiple submitters
- p.Leu363= Multiple submitters
- p.Leu89= Multiple submitters
- p.Lys210= Multiple submitters
- p.Lys256= Multiple submitters
- p.Lys345= Multiple submitters
- p.Lys358= Multiple submitters
- p.Lys371= Multiple submitters
- p.Lys398= Multiple submitters
- p.Phe112= Multiple submitters
- p.Phe279= Multiple submitters
- p.Pro66= Multiple submitters
- p.Ser11= Multiple submitters
- p.Ser152= Multiple submitters
- p.Ser174= Multiple submitters
- p.Ser192= Multiple submitters
- p.Ser377= Multiple submitters
- p.Ser386= Multiple submitters
- p.Ser44= Multiple submitters
- p.Thr111= Multiple submitters
- p.Thr181= Multiple submitters
- p.Tyr219= Multiple submitters
- p.Tyr64= Multiple submitters
- p.Val212= Multiple submitters
- p.Val233= Multiple submitters
- p.Val244= Multiple submitters
- p.Val298= Multiple submitters
- p.Val319= Multiple submitters
- p.Val37= Multiple submitters
- c.178+1797T>C Single submitter
- c.178+17T>C Single submitter
- c.178+1827T>C Single submitter
- c.178+1857C>T Single submitter
- c.178+1887C>T Single submitter
- c.178+18C>T Single submitter
- c.178+1914G>A Single submitter
- c.178+1956T>C Single submitter
- c.178+1965A>G Single submitter
- c.178+1990A>G Single submitter
- c.179-12C>G Single submitter
- c.179-14T>C Single submitter
- c.215+11G>A Single submitter
- c.215+15T>C Single submitter
- c.215+16_215+17insT Single submitter
- c.216-11G>T Single submitter
- c.216-22_216-20del Single submitter
- c.282+8C>G Single submitter
- c.283-17T>C Single submitter
- c.476+15G>T Single submitter
- c.477-12T>A Single submitter
- c.477-12T>C Single submitter
- c.477-13T>C Single submitter
- c.477-18A>G Single submitter
- c.477-19_477-18del Single submitter
- c.477-6T>C Single submitter
- c.596+9C>A Single submitter
- c.597-20G>A Single submitter
- c.597-20G>T Single submitter
- c.597-4A>C Single submitter
- c.681+13A>C Single submitter
- c.682-12T>C Single submitter
- c.682-13C>T Single submitter
- c.682-14A>G Single submitter
- c.682-17A>G Single submitter
- c.796+12_796+14del Single submitter
- c.796+13C>T Single submitter
- c.796+20_796+21del Single submitter
- c.797-11A>C Single submitter
- c.797-11A>G Single submitter
- c.797-15T>C Single submitter
- c.797-19G>A Single submitter
- c.797-20T>G Single submitter
- c.87+11G>A Single submitter
- c.87+14C>T Single submitter
- c.87+7C>G Single submitter
- c.87+8G>A Single submitter
- c.88-11T>C Single submitter
- c.88-12_88-11del Single submitter
- c.88-13T>C Single submitter
- c.88-20T>G Single submitter
- p.Ala220= Single submitter
- p.Ala239= Single submitter
- p.Ala239Glu Single submitter
- p.Ala264= Single submitter
- p.Ala265= Single submitter
- p.Ala283= Single submitter
- p.Ala335= Single submitter
- p.Ala348= Single submitter
- p.Ala348Val Single submitter
- p.Ala41= Single submitter
- p.Ala8= Single submitter
- p.Ala84= Single submitter
- p.Arg115= Single submitter
- p.Arg193= Single submitter
- p.Arg257= Single submitter
- p.Arg258= Single submitter
- p.Arg266= Single submitter
- p.Arg285= Single submitter
- p.Arg359Lys Single submitter
- p.Arg361= Single submitter
- p.Asn24Ser Single submitter
- p.Asn277= Single submitter
- p.Asn290= Single submitter
- p.Asn312= Single submitter
- p.Asn43= Single submitter
- p.Asn95= Single submitter
- p.Asn95Asp Single submitter
- p.Asp129= Single submitter
- p.Asp206= Single submitter
- p.Asp235= Single submitter
- p.Asp28= Single submitter
- p.Asp318= Single submitter
- p.Asp321= Single submitter
- p.Asp331= Single submitter
- p.Asp352= Single submitter
- p.Asp353= Single submitter
- p.Asp367= Single submitter
- p.Asp373= Single submitter
- p.Cys144= Single submitter
- p.Cys297= Single submitter
- p.Cys67= Single submitter
- p.Gln122= Single submitter
- p.Gln157= Single submitter
- p.Gln196= Single submitter
- p.Gln238= Single submitter
- p.Gln261= Single submitter
- p.Gln275= Single submitter
- p.Gln356= Single submitter
- p.Gln366= Single submitter
- p.Gln49= Single submitter
- p.Gln62= Single submitter
- p.Gln83= Single submitter
- p.Glu114= Single submitter
- p.Glu142= Single submitter
- p.Glu150= Single submitter
- p.Glu204Lys Single submitter
- p.Glu211= Single submitter
- p.Glu217= Single submitter
- p.Glu292= Single submitter
- p.Glu328= Single submitter
- p.Glu393Asp Single submitter
- p.Glu40= Single submitter
- p.Glu54= Single submitter
- p.Gly16= Single submitter
- p.Gly184= Single submitter
- p.Gly207= Single submitter
- p.Gly39= Single submitter
- p.Gly401Asp Single submitter
- p.Gly98= Single submitter
- p.His124= Single submitter
- p.His147= Single submitter
- p.His346Arg Single submitter
- p.Ile254= Single submitter
- p.Ile262= Single submitter
- p.Ile343Met Single submitter
- p.Ile344= Single submitter
- p.Ile65= Single submitter
- p.Ile88= Single submitter
- p.Leu10= Single submitter
- p.Leu117= Single submitter
- p.Leu134= Single submitter
- p.Leu135= Single submitter
- p.Leu149= Single submitter
- p.Leu166= Single submitter
- p.Leu171= Single submitter
- p.Leu177= Single submitter
- p.Leu18= Single submitter
- p.Leu23= Single submitter
- p.Leu280= Single submitter
- p.Leu284= Single submitter
- p.Leu362= Single submitter
- p.Lys214= Single submitter
- p.Lys232= Single submitter
- p.Lys251= Single submitter
- p.Lys302= Single submitter
- p.Lys396= Single submitter
- p.Lys42= Single submitter
- p.Lys63= Single submitter
- p.Met299Ile Single submitter
- p.Phe191= Single submitter
- p.Phe202= Single submitter
- p.Pro337= Single submitter
- p.Pro388= Single submitter
- p.Ser143= Single submitter
- p.Ser145= Single submitter
- p.Ser183= Single submitter
- p.Ser185= Single submitter
- p.Ser208= Single submitter
- p.Ser296= Single submitter
- p.Ser360= Single submitter
- p.Ser48= Single submitter
- p.Ser7= Single submitter
- p.Ser77= Single submitter
- p.Thr136= Single submitter
- p.Thr197= Single submitter
- p.Thr25= Single submitter
- p.Thr324= Single submitter
- p.Thr365= Single submitter
- p.Thr390= Single submitter
- p.Thr408= Single submitter
- p.Tyr100= Single submitter
- p.Tyr313= Single submitter
- p.Val14= Single submitter
- p.Val164= Single submitter
- p.Val182= Single submitter
- p.Val240= Single submitter
- p.Val306= Single submitter
- p.Val327= Single submitter
- p.Val55= Single submitter
- p.Val56= Single submitter
- p.Val92= Single submitter
- p.Val96= Single submitter
- p.Val97= Single submitter
- c.179-1131T>C No assertion criteria hereditary neoplastic syndrome
- c.179-1747C>G No assertion criteria hereditary neoplastic syndrome
- c.179-1773A>G No assertion criteria hereditary neoplastic syndrome
- c.179-2093C>G No assertion criteria hereditary neoplastic syndrome
- c.216-277T>C No assertion criteria hereditary neoplastic syndrome
- c.283-137T>C No assertion criteria hereditary neoplastic syndrome
- c.283-97G>C No assertion criteria hereditary neoplastic syndrome
- c.87+555T>A No assertion criteria hereditary neoplastic syndrome
Uncertain significance 589
Showing the top 300 by review status; the full set is in the sitemap.
- c.796+1G>A Multiple submitters
- p.Ala17Pro Multiple submitters ⚠
- p.Ala194Ser Multiple submitters ⚠
- p.Ala220Val Multiple submitters ⚠
- p.Ala260Thr Multiple submitters ⚠
- p.Ala265Thr Multiple submitters ⚠
- p.Ala338Thr Multiple submitters ⚠
- p.Ala382Pro Multiple submitters ⚠
- p.Ala41Thr Multiple submitters ⚠
- p.Ala41Val Multiple submitters ⚠
- p.Ala84Thr Multiple submitters ⚠
- p.Ala8Glu Multiple submitters ⚠
- p.Arg103Cys Multiple submitters ⚠
- p.Arg104His Multiple submitters ⚠
- p.Arg148Gln Multiple submitters ⚠
- p.Arg148Leu Multiple submitters ⚠
- p.Arg249Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Arg285Gln Multiple submitters ⚠
- p.Arg304Ser Multiple submitters ⚠
- p.Arg361Pro Multiple submitters ⚠
- p.Arg369Gln Multiple submitters breast cancer ⚠
- p.Arg369Leu Multiple submitters ⚠
- p.Arg405Trp Multiple submitters ⚠
- p.Asn303Asp Multiple submitters ⚠
- p.Asn303fs Multiple submitters
- p.Asn322Ser Multiple submitters ⚠
- p.Asn43Ser Multiple submitters ⚠
- p.Asn91Asp Multiple submitters ⚠
- p.Asn91Ile Multiple submitters ⚠
- p.Asp26Tyr Multiple submitters ⚠
- p.Asp28His Multiple submitters ⚠
- p.Asp352Glu Multiple submitters ⚠
- p.Asp353Gly Multiple submitters ⚠
- p.Asp380Gly Multiple submitters ⚠
- p.Asp47His Multiple submitters ⚠
- p.Cys144Tyr Multiple submitters ⚠
- p.Cys186Arg Multiple submitters ⚠
- p.Cys230Arg Multiple submitters ⚠
- p.Cys297Arg Multiple submitters ⚠
- p.Cys297Phe Multiple submitters ⚠
- p.Gln108Glu Multiple submitters ⚠
- p.Gln108Leu Multiple submitters hereditary breast ovarian cancer syndrome
- p.Gln122Ter Multiple submitters
- p.Gln238fs Multiple submitters hereditary neoplastic syndrome
- p.Gln261Glu Multiple submitters ⚠
- p.Gln282Glu Multiple submitters ⚠
- p.Gln282His Multiple submitters ⚠
- p.Gln356Lys Multiple submitters ⚠
- p.Gln366Arg Multiple submitters ⚠
- p.Glu114Asp Multiple submitters ⚠
- p.Glu123Gly Multiple submitters ⚠
- p.Glu276Asp Multiple submitters ⚠
- p.Glu2Ala Multiple submitters ⚠
- p.Glu2Asp Multiple submitters ⚠
- p.Glu4Asp Multiple submitters ⚠
- p.Glu4Gly Multiple submitters ⚠
- p.Gly16Ser Multiple submitters ⚠
- p.Gly178Asp Multiple submitters ⚠
- p.Gly178Val Multiple submitters
- p.Gly207Glu Multiple submitters ⚠
- p.Gly35Arg Multiple submitters Hereditary breast cancer, ABRAXAS1-related ⚠
- p.Gly375Ala Multiple submitters ⚠
- p.Gly375Arg Multiple submitters ⚠
- p.Gly39Val Multiple submitters ⚠
- p.Gly3Ala Multiple submitters ⚠
- p.Gly3Arg Multiple submitters ⚠
- p.Gly3Trp Multiple submitters ⚠
- p.Gly78Asp Multiple submitters ⚠
- p.His22Asn Multiple submitters ⚠
- p.His22Tyr Multiple submitters ⚠
- p.His305Arg Multiple submitters ⚠
- p.His305Asn Multiple submitters ⚠
- p.His305Gln Multiple submitters ⚠
- p.His346Tyr Multiple submitters ABRAXAS1-related disorder ⚠
- p.Ile215Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Ile229Leu Multiple submitters ⚠
- p.Ile254Thr Multiple submitters ⚠
- p.Ile278Ser Multiple submitters ⚠
- p.Ile278Thr Multiple submitters ⚠
- p.Ile278Val Multiple submitters ⚠
- p.Ile394Leu Multiple submitters ⚠
- p.Ile394Thr Multiple submitters ⚠
- p.Ile59Asn Multiple submitters ⚠
- p.Ile59Thr Multiple submitters hereditary breast ovarian cancer syndrome
- p.Ile59Val Multiple submitters ⚠
- p.Leu10Pro Multiple submitters ⚠
- p.Leu10Val Multiple submitters ⚠
- p.Leu117Ile Multiple submitters ⚠
- p.Leu15Phe Multiple submitters ⚠
- p.Leu15Pro Multiple submitters ⚠
- p.Leu23Phe Multiple submitters ⚠
- p.Leu243Val Multiple submitters ⚠
- p.Lys158Ile Multiple submitters ⚠
- p.Lys201Asn Multiple submitters ⚠
- p.Lys201Gln Multiple submitters ⚠
- p.Lys245Asn Multiple submitters ⚠
- p.Lys368del Multiple submitters
- p.Lys38Thr Multiple submitters ⚠
- p.Lys93Arg Multiple submitters ⚠
- p.Met110Val Multiple submitters ⚠
- p.Met173Thr Multiple submitters ⚠
- p.Met1Leu Multiple submitters
- p.Met299Thr Multiple submitters ⚠
- p.Met385Thr Multiple submitters ⚠
- p.Phe279Cys Multiple submitters ⚠
- p.Phe279Leu Multiple submitters ⚠
- p.Pro137Leu Multiple submitters ⚠
- p.Pro274Ala Multiple submitters ⚠
- p.Pro274Ser Multiple submitters ⚠
- p.Pro388Ala Multiple submitters ⚠
- p.Pro388Thr Multiple submitters ⚠
- p.Ser11Leu Multiple submitters ⚠
- p.Ser11Pro Multiple submitters ⚠
- p.Ser138Arg Multiple submitters ⚠
- p.Ser145Pro Multiple submitters ⚠
- p.Ser145Tyr Multiple submitters ⚠
- p.Ser152Tyr Multiple submitters ⚠
- p.Ser188Pro Multiple submitters
- p.Ser199Arg Multiple submitters ⚠
- p.Ser199Asn Multiple submitters ⚠
- p.Ser221Leu Multiple submitters ⚠
- p.Ser27Leu Multiple submitters ⚠
- p.Ser291Thr Multiple submitters ⚠
- p.Ser307Cys Multiple submitters ⚠
- p.Ser309Asn Multiple submitters ⚠
- p.Ser370Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ser383Phe Multiple submitters ⚠
- p.Ser383Thr Multiple submitters ⚠
- p.Ser404Leu Multiple submitters ⚠
- p.Ser406Tyr Multiple submitters ⚠
- p.Ser5Gly Multiple submitters ⚠
- p.Ser5Ile Multiple submitters ⚠
- p.Ser5Thr Multiple submitters ⚠
- p.Thr111Met Multiple submitters ⚠
- p.Thr146Ala Multiple submitters ⚠
- p.Thr365Ala Multiple submitters ⚠
- p.Thr408Ile Multiple submitters ⚠
- p.Thr6Met Multiple submitters ⚠
- p.Trp355Arg Multiple submitters ⚠
- p.Tyr154Cys Multiple submitters ⚠
- p.Tyr179Cys Multiple submitters ⚠
- p.Tyr219Cys Multiple submitters ⚠
- p.Tyr64His Multiple submitters ⚠
- p.Val164Leu Multiple submitters ⚠
- p.Val167Ala Multiple submitters ⚠
- p.Val195Ala Multiple submitters ⚠
- p.Val233Ala Multiple submitters ⚠
- p.Val298Leu Multiple submitters ⚠
- p.Val97Ile Multiple submitters ⚠
- p.Val9fs Multiple submitters
- c.178+3G>A Single submitter
- c.215+1G>A Single submitter
- c.283-283_306del Single submitter
- c.477-1G>T Single submitter
- c.596+3A>C Single submitter
- c.596+3A>G Single submitter
- c.596+9C>G Single submitter
- c.597-10T>A Single submitter
- c.597-11A>G Single submitter
- c.681+5G>A Single submitter
- c.797-1G>A Single submitter
- c.797-3T>C Single submitter
- c.87+1G>A Single submitter
- c.87+3G>A Single submitter
- c.87+5G>A Single submitter
- c.88-3T>C Single submitter
- c.-5G>C Single submitter
- c.-8G>A Single submitter
- c.-9G>A Single submitter
- p.Ala169Thr Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala194Pro Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala19Gly Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala260Pro Single submitter ⚠
- p.Ala260Val Single submitter ⚠
- p.Ala265Pro Single submitter ⚠
- p.Ala283Thr Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala335Val Single submitter ⚠
- p.Ala338Gly Single submitter ⚠
- p.Ala348Gly Single submitter ⚠
- p.Ala372Glu Single submitter ⚠
- p.Ala382fs Single submitter
- p.Ala382Gly Single submitter ⚠
- p.Ala84Pro Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg103Gly Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg103Leu Single submitter ⚠
- p.Arg104Cys Single submitter
- p.Arg113Thr Single submitter ⚠
- p.Arg115Lys Single submitter ⚠
- p.Arg115Ser Single submitter ⚠
- p.Arg148Ter Single submitter
- p.Arg163Ser Single submitter ⚠
- p.Arg193Gly Single submitter ⚠
- p.Arg193Leu Single submitter ⚠
- p.Arg249Ile Single submitter ⚠
- p.Arg249Lys Single submitter ⚠
- p.Arg252Ter Single submitter
- p.Arg257Gly Single submitter ⚠
- p.Arg257Met Single submitter ⚠
- p.Arg258Thr Single submitter ⚠
- p.Arg361Leu Single submitter ⚠
- p.Arg361Trp Single submitter ⚠
- p.Arg369Ter Single submitter
- p.Asn120Ile Single submitter ⚠
- p.Asn120Lys Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn120Tyr Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn170Asp Single submitter ⚠
- p.Asn170His Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn216Ser Single submitter ⚠
- p.Asn24His Single submitter ⚠
- p.Asn24Ile Single submitter ⚠
- p.Asn290His Single submitter ⚠
- p.Asn303delinsLysCysLeuTer Single submitter
- p.Asn303Ile Single submitter ⚠
- p.Asn303Thr Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asn322Asp Single submitter ⚠
- p.Asn43Asp Single submitter ⚠
- p.Asn75Lys Single submitter ⚠
- p.Asn95Ile Single submitter ⚠
- p.Asn95Ser Single submitter ⚠
- p.Asp107Glu Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Asp107Val Single submitter ⚠
- p.Asp129Gly Single submitter ⚠
- p.Asp206Glu Single submitter ⚠
- p.Asp206Gly Single submitter ⚠
- p.Asp206His Single submitter
- p.Asp235Gly Single submitter ⚠
- p.Asp241Ala Single submitter ⚠
- p.Asp241Asn Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Asp246Val Single submitter ⚠
- p.Asp26His Single submitter ⚠
- p.Asp273His Single submitter ⚠
- p.Asp28Glu Single submitter ⚠
- p.Asp318His Single submitter ⚠
- p.Asp331Ala Single submitter ⚠
- p.Asp331Glu Single submitter ⚠
- p.Asp350Ala Single submitter ⚠
- p.Asp350Asn Single submitter ⚠
- p.Asp350Gly Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp352Gly Single submitter ⚠
- p.Asp352His Single submitter ⚠
- p.Asp353Asn Single submitter ⚠
- p.Asp373Gly Single submitter ⚠
- p.Asp373His Single submitter ⚠
- p.Asp391Asn Single submitter ⚠
- p.Asp391Gly Single submitter ⚠
- p.Asp47Val Single submitter ⚠
- p.Asp60Glu Single submitter ⚠
- p.Cys144Ser Single submitter ⚠
- p.Cys230Tyr Single submitter ⚠
- p.Cys281Tyr Single submitter ⚠
- p.Cys297Tyr Single submitter ⚠
- p.Cys311_Asn312del Single submitter
- p.Cys311Tyr Single submitter
- p.Cys67Trp Single submitter ⚠
- p.Cys67Tyr Single submitter ⚠
- p.Gln108Lys Single submitter
- p.Gln122His Single submitter ⚠
- p.Gln128Arg Single submitter ⚠
- p.Gln128Glu Single submitter ⚠
- p.Gln157Arg Single submitter ⚠
- p.Gln157Ter Single submitter
- p.Gln196Lys Single submitter ⚠
- p.Gln196Ter Single submitter
- p.Gln21Arg Single submitter ⚠
- p.Gln21Leu Single submitter ⚠
- p.Gln261His Single submitter ⚠
- p.Gln261Lys Single submitter ⚠
- p.Gln282Arg Single submitter ⚠
- p.Gln342His Single submitter ⚠
- p.Gln356Arg Single submitter ⚠
- p.Gln366His Single submitter ⚠
- p.Gln379fs Single submitter
- p.Gln379His Single submitter ⚠
- p.Gln379Pro Single submitter ⚠
- p.Gln62Arg Single submitter ⚠
- p.Gln62Glu Single submitter ⚠
- p.Gln62His Single submitter ⚠
- p.Gln69His Single submitter ⚠
- p.Gln83Leu Single submitter ⚠
- p.Glu142Gln Single submitter ⚠
- p.Glu142Gly Single submitter ⚠
- p.Glu150Lys Single submitter ⚠
- p.Glu205Ala Single submitter ⚠