COG2 — 278 ClinVar variants
All ClinVar germline COG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
4 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 50 Benign · 3 Benign/Likely benign · 92 Likely benign · 122 Uncertain significance
Full COG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
COG2 p.Ala676Thr
Conflicting
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Ile134Met
Conflicting
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Lys522Arg
Conflicting
Single submitter
congenital disorder of glycosylation, type IIq
Predictors lean, ClinVar uncertain 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
COG2 p.Ala160Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg138Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg241Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg356Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg510Leu
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Asn270Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Asp609Asn
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Gln168His
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Glu62Lys
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Ile534Asn
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Lys327Arg
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Thr502Pro
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Ala201Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Ala721Thr Uncertain significance Single submitter
- COG2 p.Arg111Gln Uncertain significance Single submitter
-
COG2 p.Arg232Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Arg288His Uncertain significance Single submitter
-
COG2 p.Arg291Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg37Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Asn65Asp Uncertain significance Single submitter
- COG2 p.Asn65Ser Uncertain significance Single submitter
-
COG2 p.Asp28Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Asp30Asn Uncertain significance Single submitter
-
COG2 p.Asp494Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Cys129Tyr Uncertain significance Single submitter
-
COG2 p.Cys287Tyr
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Cys36Arg Uncertain significance Single submitter
-
COG2 p.Glu258Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Glu460Gln Uncertain significance Single submitter
- COG2 p.Glu532Lys Uncertain significance Single submitter
- COG2 p.Gly213Asp Uncertain significance Single submitter
- COG2 p.Gly248Ser Uncertain significance Single submitter
- COG2 p.Gly621Arg Uncertain significance Single submitter
-
COG2 p.Gly680Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Ile123Val Uncertain significance Single submitter
- COG2 p.Ile134Val Uncertain significance Single submitter
- COG2 p.Ile200Leu Uncertain significance Single submitter
-
COG2 p.Ile541Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Leu158Gln Uncertain significance Single submitter
- COG2 p.Leu51Arg Uncertain significance Single submitter
-
COG2 p.Leu51Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Leu702Phe Uncertain significance Single submitter
-
COG2 p.Lys378Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Lys475Arg Uncertain significance Single submitter
- COG2 p.Lys503Glu Uncertain significance Single submitter
- COG2 p.Lys503Thr Uncertain significance Single submitter
-
COG2 p.Lys570Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Lys730Arg Uncertain significance Single submitter
- COG2 p.Met128Ile Uncertain significance Single submitter
-
COG2 p.Met434Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Met685Val Uncertain significance Single submitter
- COG2 p.Met81Thr Uncertain significance Single submitter
- COG2 p.Pro163Arg Uncertain significance Single submitter
- COG2 p.Pro284Thr Uncertain significance Single submitter
- COG2 p.Pro471Leu Uncertain significance Single submitter
- COG2 p.Pro678Ser Uncertain significance Single submitter
- COG2 p.Ser299Thr Uncertain significance Single submitter
- COG2 p.Ser330Leu Uncertain significance Single submitter
- COG2 p.Ser470Asn Uncertain significance Single submitter
- COG2 p.Ser500Leu Uncertain significance Single submitter
- COG2 p.Ser561Ala Uncertain significance Single submitter
- COG2 p.Thr221Lys Uncertain significance Single submitter
- COG2 p.Thr58Ala Uncertain significance Single submitter
- COG2 p.Thr602Ile Uncertain significance Single submitter
- COG2 p.Thr638Ile Uncertain significance Single submitter
- COG2 p.Thr734Ala Uncertain significance Single submitter
- COG2 p.Tyr53Cys Uncertain significance Single submitter
- COG2 p.Val224Ile Uncertain significance Single submitter
- COG2 p.Val479Leu Uncertain significance Single submitter
- COG2 p.Val564Met Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
-
COG2 p.Ala339Pro
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg356Trp
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg39Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg39Trp
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Leu463Phe
Uncertain significance
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Val653Ile
Likely benign
Multiple submitters
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg138Trp
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Arg199Cys Uncertain significance Single submitter
- COG2 p.Arg288Cys Uncertain significance Single submitter
-
COG2 p.Arg428Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Arg453Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Asn336Lys Uncertain significance Single submitter
- COG2 p.Asn545Lys Uncertain significance Single submitter
- COG2 p.Asn655Lys Uncertain significance Single submitter
-
COG2 p.Asn73Ser
Conflicting
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Asp18Glu Uncertain significance Single submitter
- COG2 p.Asp338Asn Uncertain significance Single submitter
-
COG2 p.Asp652Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Asp689Tyr
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Glu411Gln Uncertain significance Single submitter
- COG2 p.Glu469Lys Uncertain significance Single submitter
- COG2 p.Gly189Ala Uncertain significance Single submitter
- COG2 p.Gly189Ser Uncertain significance Single submitter
- COG2 p.Gly581Cys Uncertain significance Single submitter
- COG2 p.His441Asp Uncertain significance Single submitter
- COG2 p.Ile237Met Uncertain significance Single submitter
- COG2 p.Ile237Val Uncertain significance Single submitter
- COG2 p.Leu416Phe Uncertain significance Single submitter
- COG2 p.Leu567Ser Uncertain significance Single submitter
- COG2 p.Lys125Glu Uncertain significance Single submitter
- COG2 p.Lys503Asn Uncertain significance Single submitter
- COG2 p.Lys623Glu Uncertain significance Single submitter
- COG2 p.Pro12Leu Uncertain significance Single submitter
-
COG2 p.Ser161Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
-
COG2 p.Ser347Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Ser375Asn Uncertain significance Single submitter
- COG2 p.Ser556Pro Uncertain significance Single submitter
- COG2 p.Ser578Phe Uncertain significance Single submitter
- COG2 p.Ser585Arg Uncertain significance Single submitter
- COG2 p.Ser656Ala Uncertain significance Single submitter
- COG2 p.Ser682Arg Uncertain significance Single submitter
-
COG2 p.Ser720Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Thr221Met Uncertain significance Single submitter
- COG2 p.Val29Ile Uncertain significance Single submitter
- COG2 p.Val440Leu Uncertain significance Single submitter
-
COG2 p.Val589Leu
Uncertain significance
Single submitter
congenital disorder of glycosylation, type IIq
- COG2 p.Val650Ala Uncertain significance Single submitter
- COG2 p.Val650Met Uncertain significance Single submitter
- COG2 p.Val726Ile Uncertain significance Single submitter
All COG2 variants
Pathogenic 4
- p.Gln87fs Single submitter congenital disorder of glycosylation, type IIq
- p.Ile146fs Single submitter congenital disorder of glycosylation, type IIq
- p.Lys503fs Single submitter congenital disorder of glycosylation, type IIq
- p.Thr175fs Single submitter congenital disorder of glycosylation, type IIq
Likely pathogenic 3
- p.Arg428del Single submitter
- p.Cys16Ter Single submitter
- p.Gln619Ter Single submitter congenital disorder of glycosylation, type IIq
Conflicting classifications of pathogenicity 4
- p.Ala676Thr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Asn73Ser Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Ile134Met Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Lys522Arg Single submitter congenital disorder of glycosylation, type IIq ⚠
Benign 50
- c.1027-228A>G Multiple submitters
- c.1380+80T>C Multiple submitters
- c.1381-74G>A Multiple submitters
- c.1578+25C>T Multiple submitters
- c.1579-24A>G Multiple submitters
- c.1651+58C>A Multiple submitters
- c.1795-115G>A Multiple submitters
- c.1795-260C>T Multiple submitters
- c.1934+43A>G Multiple submitters
- c.2116-51C>A Multiple submitters
- c.235-129A>C Multiple submitters
- c.235-178A>G Multiple submitters
- c.594+243C>T Multiple submitters
- c.595-280A>C Multiple submitters
- c.72+67G>C Multiple submitters
- c.73-33T>C Multiple submitters
- p.Asn304Lys Multiple submitters congenital disorder of glycosylation, type IIq
- p.Gly189= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Ile346Val Multiple submitters congenital disorder of glycosylation, type IIq
- p.Leu88= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Ter739= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Val61= Multiple submitters congenital disorder of glycosylation, type IIq
- c.1167-145del Single submitter
- c.1167-146_1167-145del Single submitter
- c.1167-24TTC[2] Single submitter
- c.1228+110dup Single submitter
- c.1229-201G>A Single submitter
- c.1229-226G>T Single submitter
- c.1229-253G>A Single submitter
- c.1229-47del Single submitter
- c.1229-66_1229-62dup Single submitter
- c.1381-210C>A Single submitter
- c.1578+162C>T Single submitter
- c.1794+273G>C Single submitter
- c.1794+319G>A Single submitter
- c.1795-313T>C Single submitter
- c.1795-333T>G Single submitter
- c.2116-165A>G Single submitter
- c.2116-273G>T Single submitter
- c.2116-278A>G Single submitter
- c.234+270A>G Single submitter
- c.235-264C>T Single submitter
- c.301-12dup Single submitter
- c.382-235dup Single submitter
- c.900-199C>A Single submitter
- c.-104del Single submitter
- p.Leu722= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro413= Single submitter
- p.Ser104= Single submitter congenital disorder of glycosylation, type IIq
- p.Val679= Single submitter
Benign/Likely benign 3
- p.Asp338= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Thr236= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Val589Ile Multiple submitters congenital disorder of glycosylation, type IIq
Likely benign 92
- c.2115+18G>A Multiple submitters congenital disorder of glycosylation, type IIq
- c.2115+277A>G Multiple submitters
- c.301-79G>A Multiple submitters
- p.Arg510Cys Multiple submitters congenital disorder of glycosylation, type IIq
- p.Asp687= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Gln209= Multiple submitters congenital disorder of glycosylation, type IIq
- p.Thr511Ser Multiple submitters congenital disorder of glycosylation, type IIq
- p.Val653Ile Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- c.1026+10C>T Single submitter congenital disorder of glycosylation, type IIq
- c.1026+11G>A Single submitter congenital disorder of glycosylation, type IIq
- c.1026+14C>T Single submitter congenital disorder of glycosylation, type IIq
- c.1026+17C>T Single submitter
- c.1026+18G>A Single submitter congenital disorder of glycosylation, type IIq
- c.1166+18C>T Single submitter congenital disorder of glycosylation, type IIq
- c.1166+19G>A Single submitter congenital disorder of glycosylation, type IIq
- c.1167-19C>A Single submitter congenital disorder of glycosylation, type IIq
- c.1381-10C>T Single submitter congenital disorder of glycosylation, type IIq
- c.1578+11G>C Single submitter congenital disorder of glycosylation, type IIq
- c.1579-13A>G Single submitter congenital disorder of glycosylation, type IIq
- c.1935-17C>T Single submitter congenital disorder of glycosylation, type IIq
- c.2115+14C>T Single submitter congenital disorder of glycosylation, type IIq
- c.2115+15G>A Single submitter congenital disorder of glycosylation, type IIq
- c.2115+7C>T Single submitter congenital disorder of glycosylation, type IIq
- c.2116-10G>A Single submitter
- c.2116-59T>C Single submitter
- c.2116-72T>G Single submitter
- c.235-8del Single submitter congenital disorder of glycosylation, type IIq
- c.300+11C>T Single submitter congenital disorder of glycosylation, type IIq
- c.300+12G>A Single submitter congenital disorder of glycosylation, type IIq
- c.301-10T>G Single submitter
- c.301-11G>T Single submitter congenital disorder of glycosylation, type IIq
- c.301-9C>T Single submitter congenital disorder of glycosylation, type IIq
- c.381+4T>C Single submitter congenital disorder of glycosylation, type IIq
- c.381+8C>T Single submitter congenital disorder of glycosylation, type IIq
- c.485+19A>G Single submitter congenital disorder of glycosylation, type IIq
- c.485+8T>A Single submitter congenital disorder of glycosylation, type IIq
- c.594+10G>A Single submitter congenital disorder of glycosylation, type IIq
- c.72+20C>T Single submitter congenital disorder of glycosylation, type IIq
- c.73-10T>C Single submitter
- c.73-19C>T Single submitter congenital disorder of glycosylation, type IIq
- c.774+9A>G Single submitter
- c.899+15C>G Single submitter congenital disorder of glycosylation, type IIq
- c.900-19A>T Single submitter congenital disorder of glycosylation, type IIq
- c.900-20T>C Single submitter congenital disorder of glycosylation, type IIq
- p.Ala205= Single submitter congenital disorder of glycosylation, type IIq
- p.Ala369= Single submitter congenital disorder of glycosylation, type IIq
- p.Ala394= Single submitter congenital disorder of glycosylation, type IIq
- p.Ala713= Single submitter
- p.Ala723Thr Single submitter
- p.Arg124= Single submitter congenital disorder of glycosylation, type IIq
- p.Arg464= Single submitter congenital disorder of glycosylation, type IIq
- p.Asn381= Single submitter
- p.Asn459Ser Single submitter
- p.Asn655= Single submitter congenital disorder of glycosylation, type IIq
- p.Cys129= Single submitter congenital disorder of glycosylation, type IIq
- p.Gln135= Single submitter congenital disorder of glycosylation, type IIq
- p.Gln489= Single submitter congenital disorder of glycosylation, type IIq
- p.Glu281= Single submitter congenital disorder of glycosylation, type IIq
- p.Glu433= Single submitter
- p.Glu44= Single submitter
- p.Glu469= Single submitter congenital disorder of glycosylation, type IIq
- p.Glu704Lys Single submitter congenital disorder of glycosylation, type IIq
- p.Gly218= Single submitter congenital disorder of glycosylation, type IIq
- p.Gly637= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu180= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu214= Single submitter
- p.Leu397= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu443= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu49= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu587= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu63= Single submitter congenital disorder of glycosylation, type IIq
- p.Lys145= Single submitter congenital disorder of glycosylation, type IIq
- p.Lys659= Single submitter congenital disorder of glycosylation, type IIq
- p.Phe282= Single submitter congenital disorder of glycosylation, type IIq
- p.Phe580= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro12= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro163= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro329= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro334= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro337= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro678= Single submitter congenital disorder of glycosylation, type IIq
- p.Ser330= Single submitter
- p.Ser363= Single submitter
- p.Ser4= Single submitter congenital disorder of glycosylation, type IIq
- p.Ser431= Single submitter congenital disorder of glycosylation, type IIq
- p.Ser585= Single submitter congenital disorder of glycosylation, type IIq
- p.Ser686= Single submitter congenital disorder of glycosylation, type IIq
- p.Thr14= Single submitter congenital disorder of glycosylation, type IIq
- p.Thr345= Single submitter
- p.Thr58= Single submitter congenital disorder of glycosylation, type IIq
- p.Tyr234= Single submitter congenital disorder of glycosylation, type IIq
- p.Val600= Single submitter congenital disorder of glycosylation, type IIq
Uncertain significance 122
- p.Ala160Val Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Ala339Pro Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg138Gln Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg241Gln Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg356Gln Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg356Trp Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg39Gln Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg39Trp Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Arg510Leu Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Asn270Ser Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Asp609Asn Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Gln168His Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Glu62Lys Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Ile534Asn Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Leu463Phe Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Lys327Arg Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- p.Thr502Pro Multiple submitters congenital disorder of glycosylation, type IIq ⚠
- c.1934+3A>G Single submitter congenital disorder of glycosylation, type IIq
- c.1935-3A>G Single submitter congenital disorder of glycosylation, type IIq
- p.Ala201Thr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Ala721Thr Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg138Trp Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg232Leu Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg291Gln Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Arg37Gly Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Arg428Ser Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Arg453Gln Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Asn336Lys Single submitter ⚠
- p.Asn545Lys Single submitter ⚠
- p.Asn655Lys Single submitter ⚠
- p.Asn65Asp Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp18Glu Single submitter ⚠
- p.Asp28Asn Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Asp30Asn Single submitter ⚠
- p.Asp338Asn Single submitter ⚠
- p.Asp494Asn Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Asp652Gly Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Asp689Tyr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Cys129Tyr Single submitter ⚠
- p.Cys287Tyr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Cys36Arg Single submitter ⚠
- p.Glu258Lys Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Glu411Gln Single submitter ⚠
- p.Glu460Gln Single submitter ⚠
- p.Glu469Lys Single submitter ⚠
- p.Glu532Lys Single submitter ⚠
- p.Gly189Ala Single submitter ⚠
- p.Gly189Ser Single submitter ⚠
- p.Gly213Asp Single submitter ⚠
- p.Gly248Ser Single submitter ⚠
- p.Gly581Cys Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.Gly680Ser Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.His441Asp Single submitter ⚠
- p.Ile123Val Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile200Leu Single submitter ⚠
- p.Ile237Met Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Ile541Thr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Leu158Gln Single submitter ⚠
- p.Leu312= Single submitter congenital disorder of glycosylation, type IIq
- p.Leu416Phe Single submitter ⚠
- p.Leu51Arg Single submitter ⚠
- p.Leu51Phe Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Leu567Ser Single submitter ⚠
- p.Leu702Phe Single submitter ⚠
- p.Lys125Glu Single submitter ⚠
- p.Lys378Arg Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Lys475Arg Single submitter ⚠
- p.Lys503Asn Single submitter ⚠
- p.Lys503Glu Single submitter ⚠
- p.Lys503Thr Single submitter ⚠
- p.Lys570Arg Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Lys623Glu Single submitter ⚠
- p.Lys730Arg Single submitter ⚠
- p.Met128Ile Single submitter ⚠
- p.Met434Thr Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Met685Val Single submitter ⚠
- p.Met81Thr Single submitter ⚠
- p.Phe27= Single submitter congenital disorder of glycosylation, type IIq
- p.Pro12Leu Single submitter ⚠
- p.Pro163Arg Single submitter ⚠
- p.Pro284Thr Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro678Ser Single submitter ⚠
- p.Ser161Asn Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Ser299Thr Single submitter ⚠
- p.Ser330Leu Single submitter ⚠
- p.Ser347Asn Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Ser375Asn Single submitter ⚠
- p.Ser470Asn Single submitter ⚠
- p.Ser500Leu Single submitter ⚠
- p.Ser556Pro Single submitter ⚠
- p.Ser561Ala Single submitter ⚠
- p.Ser578Phe Single submitter ⚠
- p.Ser585Arg Single submitter ⚠
- p.Ser656Ala Single submitter ⚠
- p.Ser682Arg Single submitter ⚠
- p.Ser714fs Single submitter congenital disorder of glycosylation, type IIq
- p.Ser720Leu Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Thr221Lys Single submitter ⚠
- p.Thr221Met Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Thr602Ile Single submitter ⚠
- p.Thr638Ile Single submitter ⚠
- p.Thr734Ala Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val29Ile Single submitter ⚠
- p.Val440Leu Single submitter ⚠
- p.Val479Leu Single submitter ⚠
- p.Val564Met Single submitter ⚠
- p.Val589Leu Single submitter congenital disorder of glycosylation, type IIq ⚠
- p.Val650Ala Single submitter ⚠
- p.Val650Met Single submitter ⚠
- p.Val726Ile Single submitter ⚠