CTDP1 — 684 ClinVar variants
All ClinVar germline CTDP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 280 flagged for review →
1 Pathogenic · 12 Conflicting · 65 Benign · 22 Benign/Likely benign · 295 Likely benign · 289 Uncertain significance
Full CTDP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 280
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CTDP1 p.Ala430Val Conflicting Single submitter
- CTDP1 p.Ala786Thr Conflicting Single submitter
- CTDP1 p.Asp775Asn Conflicting Single submitter
- CTDP1 p.Lys230Arg Conflicting Single submitter
-
CTDP1 p.Trp407Arg
Conflicting
Single submitter
congenital cataracts-facial dysmorphism-neuropathy syndrome
Predictors lean, ClinVar uncertain 159
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 159
- CTDP1 p.Ala20Thr Uncertain significance Multiple submitters
- CTDP1 p.Ala58Ser Uncertain significance Multiple submitters
- CTDP1 p.Ala69Asp Uncertain significance Multiple submitters
- CTDP1 p.Ala69Val Uncertain significance Multiple submitters
- CTDP1 p.Ala742Val Uncertain significance Multiple submitters
- CTDP1 p.Ala754Ser Uncertain significance Multiple submitters
- CTDP1 p.Ala791Val Uncertain significance Multiple submitters
- CTDP1 p.Ala823Thr Uncertain significance Multiple submitters
- CTDP1 p.Ala927Thr Uncertain significance Multiple submitters
- CTDP1 p.Ala928Thr Uncertain significance Multiple submitters
- CTDP1 p.Arg176Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg179Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg623His Uncertain significance Multiple submitters
- CTDP1 p.Arg747Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg772Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg889Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg897Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg913Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg92Gln Uncertain significance Multiple submitters
- CTDP1 p.Asn138Ser Uncertain significance Multiple submitters
- CTDP1 p.Asp870Asn Uncertain significance Multiple submitters
-
CTDP1 p.Gln133Arg
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Gln800Arg Uncertain significance Multiple submitters
- CTDP1 p.Glu388Lys Uncertain significance Multiple submitters
- CTDP1 p.Glu819Ala Uncertain significance Multiple submitters
- CTDP1 p.Gly139Arg Uncertain significance Multiple submitters
-
CTDP1 p.Gly515Arg
Uncertain significance
Multiple submitters
CTDP1-related disorder
- CTDP1 p.Gly892Glu Uncertain significance Multiple submitters
- CTDP1 p.Gly900Arg Uncertain significance Multiple submitters
- CTDP1 p.Leu695Val Uncertain significance Multiple submitters
- CTDP1 p.Lys835Arg Uncertain significance Multiple submitters
-
CTDP1 p.Pro144Leu
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Pro15Ser Uncertain significance Multiple submitters
- CTDP1 p.Pro511Ser Uncertain significance Multiple submitters
- CTDP1 p.Pro741Ser Uncertain significance Multiple submitters
- CTDP1 p.Pro792Ser Uncertain significance Multiple submitters
- CTDP1 p.Pro811Ser Uncertain significance Multiple submitters
- CTDP1 p.Ser794Thr Uncertain significance Multiple submitters
-
CTDP1 p.Thr223Met
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Val244Ile Uncertain significance Multiple submitters
-
CTDP1 p.Val74Leu
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Ala20Ser Uncertain significance Single submitter
- CTDP1 p.Ala237Thr Uncertain significance Single submitter
- CTDP1 p.Ala253Thr Uncertain significance Single submitter
- CTDP1 p.Ala368Thr Uncertain significance Single submitter
- CTDP1 p.Ala422Ser Uncertain significance Single submitter
- CTDP1 p.Ala489Pro Uncertain significance Single submitter
- CTDP1 p.Ala496Thr Uncertain significance Single submitter
- CTDP1 p.Ala619Val Uncertain significance Single submitter
- CTDP1 p.Ala63Ser Uncertain significance Single submitter
- CTDP1 p.Ala63Val Uncertain significance Single submitter
- CTDP1 p.Ala681Asp Uncertain significance Single submitter
- CTDP1 p.Ala686Thr Uncertain significance Single submitter
- CTDP1 p.Ala689Val Uncertain significance Single submitter
- CTDP1 p.Ala765Ser Uncertain significance Single submitter
- CTDP1 p.Ala765Val Uncertain significance Single submitter
- CTDP1 p.Ala77Glu Uncertain significance Single submitter
- CTDP1 p.Ala77Val Uncertain significance Single submitter
- CTDP1 p.Ala807Glu Uncertain significance Single submitter
- CTDP1 p.Ala807Val Uncertain significance Single submitter
- CTDP1 p.Ala88Gly Uncertain significance Single submitter
- CTDP1 p.Ala950Val Uncertain significance Single submitter
- CTDP1 p.Ala952Val Uncertain significance Single submitter
- CTDP1 p.Arg224Gly Uncertain significance Single submitter
- CTDP1 p.Arg434Gln Uncertain significance Single submitter
- CTDP1 p.Arg482Thr Uncertain significance Single submitter
- CTDP1 p.Arg484Gln Uncertain significance Single submitter
- CTDP1 p.Arg655Trp Uncertain significance Single submitter
- CTDP1 p.Arg717Cys Uncertain significance Single submitter
- CTDP1 p.Arg717His Uncertain significance Single submitter
- CTDP1 p.Arg747Gly Uncertain significance Single submitter
- CTDP1 p.Arg799His Uncertain significance Single submitter
- CTDP1 p.Arg894Leu Uncertain significance Single submitter
- CTDP1 p.Asn313Ser Uncertain significance Single submitter
- CTDP1 p.Asn613Lys Uncertain significance Single submitter
- CTDP1 p.Asn648Asp Uncertain significance Single submitter
- CTDP1 p.Asp730Glu Uncertain significance Single submitter
- CTDP1 p.Asp731Asn Uncertain significance Single submitter
- CTDP1 p.Asp731Gly Uncertain significance Single submitter
- CTDP1 p.Asp863Asn Uncertain significance Single submitter
- CTDP1 p.Cys127Tyr Uncertain significance Single submitter
- CTDP1 p.Gln135Arg Uncertain significance Single submitter
- CTDP1 p.Gln142Leu Uncertain significance Single submitter
- CTDP1 p.Gln165Pro Uncertain significance Single submitter
- CTDP1 p.Gln443Pro Uncertain significance Single submitter
- CTDP1 p.Gln59Glu Uncertain significance Single submitter
- CTDP1 p.Gln736Glu Uncertain significance Single submitter
- CTDP1 p.Gln812Arg Uncertain significance Single submitter
- CTDP1 p.Gln837Pro Uncertain significance Single submitter
- CTDP1 p.Gln882Arg Uncertain significance Single submitter
- CTDP1 p.Gln882Pro Uncertain significance Single submitter
- CTDP1 p.Glu12Gln Uncertain significance Single submitter
- CTDP1 p.Glu2Asp Uncertain significance Single submitter
- CTDP1 p.Glu337Lys Uncertain significance Single submitter
- CTDP1 p.Glu504Asp Uncertain significance Single submitter
- CTDP1 p.Glu537Lys Uncertain significance Single submitter
- CTDP1 p.Glu723Gln Uncertain significance Single submitter
- CTDP1 p.Glu738Lys Uncertain significance Single submitter
- CTDP1 p.Glu748Asp Uncertain significance Single submitter
- CTDP1 p.Glu770Lys Uncertain significance Single submitter
- CTDP1 p.Glu801Lys Uncertain significance Single submitter
- CTDP1 p.Glu906Lys Uncertain significance Single submitter
- CTDP1 p.Gly217Ala Uncertain significance Single submitter
- CTDP1 p.Gly248Ala Uncertain significance Single submitter
- CTDP1 p.Gly349Asp Uncertain significance Single submitter
- CTDP1 p.Gly399Arg Uncertain significance Single submitter
- CTDP1 p.Gly432Ser Uncertain significance Single submitter
- CTDP1 p.Gly500Ser Uncertain significance Single submitter
- CTDP1 p.Gly531Asp Uncertain significance Single submitter
- CTDP1 p.Gly565Glu Uncertain significance Single submitter
- CTDP1 p.Gly62Arg Uncertain significance Single submitter
- CTDP1 p.Gly62Glu Uncertain significance Single submitter
- CTDP1 p.Gly71Glu Uncertain significance Single submitter
- CTDP1 p.Gly89Ser Uncertain significance Single submitter
- CTDP1 p.Gly911Arg Uncertain significance Single submitter
- CTDP1 p.Gly912Asp Uncertain significance Single submitter
- CTDP1 p.His254Leu Uncertain significance Single submitter
- CTDP1 p.His683Arg Uncertain significance Single submitter
- CTDP1 p.Ile782Leu Uncertain significance Single submitter
- CTDP1 p.Leu541Pro Uncertain significance Single submitter
- CTDP1 p.Lys379Asn Uncertain significance Single submitter
- CTDP1 p.Lys624Arg Uncertain significance Single submitter
- CTDP1 p.Lys876Asn Uncertain significance Single submitter
- CTDP1 p.Met120Ile Uncertain significance Single submitter
- CTDP1 p.Phe291Tyr Uncertain significance Single submitter
- CTDP1 p.Phe649Ile Uncertain significance Single submitter
- CTDP1 p.Pro157Leu Uncertain significance Single submitter
- CTDP1 p.Pro25Ser Uncertain significance Single submitter
- CTDP1 p.Pro357Leu Uncertain significance Single submitter
- CTDP1 p.Pro392Arg Uncertain significance Single submitter
- CTDP1 p.Pro408Ser Uncertain significance Single submitter
- CTDP1 p.Pro441Arg Uncertain significance Single submitter
- CTDP1 p.Pro524Ala Uncertain significance Single submitter
- CTDP1 p.Pro646Leu Uncertain significance Single submitter
- CTDP1 p.Pro76Arg Uncertain significance Single submitter
- CTDP1 p.Pro790Ala Uncertain significance Single submitter
- CTDP1 p.Pro797Ser Uncertain significance Single submitter
- CTDP1 p.Pro79Leu Uncertain significance Single submitter
- CTDP1 p.Pro79Ser Uncertain significance Single submitter
- CTDP1 p.Pro809Leu Uncertain significance Single submitter
- CTDP1 p.Pro829Ala Uncertain significance Single submitter
- CTDP1 p.Pro886Ser Uncertain significance Single submitter
- CTDP1 p.Ser205Ala Uncertain significance Single submitter
- CTDP1 p.Ser374Thr Uncertain significance Single submitter
- CTDP1 p.Ser478Arg Uncertain significance Single submitter
- CTDP1 p.Ser64Pro Uncertain significance Single submitter
- CTDP1 p.Ser856Asn Uncertain significance Single submitter
- CTDP1 p.Thr16Pro Uncertain significance Single submitter
- CTDP1 p.Thr284Met Uncertain significance Single submitter
- CTDP1 p.Thr391Ser Uncertain significance Single submitter
Predictors split 116
The independent predictors disagree with each other — read with care.
- CTDP1 p.Ala106Val Benign Multiple submitters
- CTDP1 p.Ala38Val Uncertain significance Multiple submitters
- CTDP1 p.Ala54Ser Uncertain significance Multiple submitters
- CTDP1 p.Ala54Val Uncertain significance Multiple submitters
- CTDP1 p.Ala903Val Uncertain significance Multiple submitters
-
CTDP1 p.Ala909Val
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Ala910Thr Uncertain significance Multiple submitters
-
CTDP1 p.Arg610His
Uncertain significance
Multiple submitters
CTDP1-related disorder
- CTDP1 p.Arg655Gln Uncertain significance Multiple submitters
- CTDP1 p.Arg747Trp Uncertain significance Multiple submitters
- CTDP1 p.Arg78Trp Uncertain significance Multiple submitters
- CTDP1 p.Arg894His Uncertain significance Multiple submitters
- CTDP1 p.Arg897Trp Uncertain significance Multiple submitters
- CTDP1 p.Asn345Ile Uncertain significance Multiple submitters
- CTDP1 p.Asn958His Uncertain significance Multiple submitters
- CTDP1 p.Asp873Asn Uncertain significance Multiple submitters
- CTDP1 p.Cys24Phe Uncertain significance Multiple submitters
- CTDP1 p.Gln100Arg Uncertain significance Multiple submitters
- CTDP1 p.Glu534Asp Benign/Likely benign Multiple submitters
- CTDP1 p.Glu875Lys Uncertain significance Multiple submitters
- CTDP1 p.Gly26Glu Uncertain significance Multiple submitters
- CTDP1 p.Gly46Ser Uncertain significance Multiple submitters
- CTDP1 p.Gly701Arg Uncertain significance Multiple submitters
- CTDP1 p.Gly72Asp Uncertain significance Multiple submitters
- CTDP1 p.Leu266Ile Uncertain significance Multiple submitters
- CTDP1 p.Leu94Met Uncertain significance Multiple submitters
- CTDP1 p.Pro760Leu Uncertain significance Multiple submitters
- CTDP1 p.Ser57Cys Uncertain significance Multiple submitters
-
CTDP1 p.Thr147Met
Uncertain significance
Multiple submitters
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Thr340Met Benign Multiple submitters
- CTDP1 p.Ala18Val Uncertain significance Single submitter
- CTDP1 p.Ala498Val Uncertain significance Single submitter
- CTDP1 p.Ala56Thr Uncertain significance Single submitter
- CTDP1 p.Ala5Asp Benign Single submitter
- CTDP1 p.Ala5Val Uncertain significance Single submitter
- CTDP1 p.Ala662Val Uncertain significance Single submitter
- CTDP1 p.Ala677Thr Uncertain significance Single submitter
- CTDP1 p.Ala6Thr Uncertain significance Single submitter
- CTDP1 p.Ala77Thr Uncertain significance Single submitter
- CTDP1 p.Arg31Leu Uncertain significance Single submitter
- CTDP1 p.Arg36Lys Uncertain significance Single submitter
- CTDP1 p.Arg36Thr Uncertain significance Single submitter
- CTDP1 p.Arg393Trp Uncertain significance Single submitter
- CTDP1 p.Arg397His Uncertain significance Single submitter
- CTDP1 p.Arg440Trp Uncertain significance Single submitter
- CTDP1 p.Arg507Trp Uncertain significance Single submitter
- CTDP1 p.Arg75Cys Uncertain significance Single submitter
- CTDP1 p.Arg787Trp Uncertain significance Single submitter
- CTDP1 p.Arg799Cys Conflicting Single submitter
- CTDP1 p.Arg81Cys Uncertain significance Single submitter
- CTDP1 p.Arg889Trp Uncertain significance Single submitter
- CTDP1 p.Arg913Trp Uncertain significance Single submitter
- CTDP1 p.Asn958Lys Uncertain significance Single submitter
- CTDP1 p.Asp588Asn Uncertain significance Single submitter
- CTDP1 p.Asp871Asn Uncertain significance Single submitter
- CTDP1 p.Asp947Asn Uncertain significance Single submitter
- CTDP1 p.Asp959Asn Uncertain significance Single submitter
- CTDP1 p.Gln882His Uncertain significance Single submitter
- CTDP1 p.Glu164Gln Uncertain significance Single submitter
- CTDP1 p.Glu164Lys Uncertain significance Single submitter
- CTDP1 p.Glu263Lys Uncertain significance Single submitter
- CTDP1 p.Glu34Asp Uncertain significance Single submitter
- CTDP1 p.Glu465Lys Uncertain significance Single submitter
- CTDP1 p.Glu477Lys Uncertain significance Single submitter
- CTDP1 p.Glu479Lys Uncertain significance Single submitter
- CTDP1 p.Glu580Asp Uncertain significance Single submitter
- CTDP1 p.Glu628Asp Uncertain significance Single submitter
- CTDP1 p.Glu827Gln Uncertain significance Single submitter
- CTDP1 p.Glu884Gly Uncertain significance Single submitter
- CTDP1 p.Glu930Lys Uncertain significance Single submitter
- CTDP1 p.Glu938Lys Uncertain significance Single submitter
- CTDP1 p.Glu93Gln Uncertain significance Single submitter
- CTDP1 p.Gly215Ala Uncertain significance Single submitter
- CTDP1 p.Gly540Val Uncertain significance Single submitter
- CTDP1 p.Ile236Thr Uncertain significance Single submitter
-
CTDP1 p.Ile639Val
Uncertain significance
Single submitter
congenital cataracts-facial dysmorphism-neuropathy syndrome
- CTDP1 p.Ile651Met Uncertain significance Single submitter
- CTDP1 p.Leu541Phe Uncertain significance Single submitter
- CTDP1 p.Lys235Glu Uncertain significance Single submitter
- CTDP1 p.Lys780Glu Uncertain significance Single submitter
- CTDP1 p.Phe52Leu Uncertain significance Single submitter
- CTDP1 p.Pro10Ser Uncertain significance Single submitter
- CTDP1 p.Pro437Leu Uncertain significance Single submitter
- CTDP1 p.Pro511Leu Likely benign Single submitter
- CTDP1 p.Pro620Leu Uncertain significance Single submitter
- CTDP1 p.Pro650Leu Uncertain significance Single submitter
- CTDP1 p.Pro727Leu Uncertain significance Single submitter
- CTDP1 p.Pro758Leu Uncertain significance Single submitter
- CTDP1 p.Pro831Ser Uncertain significance Single submitter
- CTDP1 p.Pro98Leu Uncertain significance Single submitter
- CTDP1 p.Ser455Phe Uncertain significance Single submitter
- CTDP1 p.Ser471Phe Uncertain significance Single submitter
- CTDP1 p.Ser472Ala Uncertain significance Single submitter
- CTDP1 p.Ser474Phe Uncertain significance Single submitter
- CTDP1 p.Ser60Phe Uncertain significance Single submitter
- CTDP1 p.Ser794Gly Uncertain significance Single submitter
- CTDP1 p.Ser795Cys Uncertain significance Single submitter
- CTDP1 p.Ser804Tyr Uncertain significance Single submitter
- CTDP1 p.Ser85Leu Uncertain significance Single submitter
- CTDP1 p.Ser874Asn Uncertain significance Single submitter
- CTDP1 p.Thr132Ile Uncertain significance Single submitter
- CTDP1 p.Thr326Met Uncertain significance Single submitter
- CTDP1 p.Thr366Met Uncertain significance Single submitter
- CTDP1 p.Thr446Met Uncertain significance Single submitter
- CTDP1 p.Thr467Met Uncertain significance Single submitter
- CTDP1 p.Thr647Ile Uncertain significance Single submitter
- CTDP1 p.Thr654Met Uncertain significance Single submitter
- CTDP1 p.Thr784Met Uncertain significance Single submitter
- CTDP1 p.Thr898Met Uncertain significance Single submitter
- CTDP1 p.Val109Met Uncertain significance Single submitter
- CTDP1 p.Val187Leu Uncertain significance Single submitter
- CTDP1 p.Val359Met Uncertain significance Single submitter
- CTDP1 p.Val37Met Uncertain significance Single submitter
- CTDP1 p.Val705Met Uncertain significance Single submitter
- CTDP1 p.Val90Met Uncertain significance Single submitter
-
CTDP1 p.Ala496Val
Benign
No assertion criteria
CTDP1-related disorder
All CTDP1 variants
Pathogenic 1
- c.863+389C>T Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
Conflicting classifications of pathogenicity 12
- c.773-9T>G Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Ala430Val Single submitter ⚠
- p.Ala786Thr Single submitter ⚠
- p.Arg341= Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Arg688Ter Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Arg799Cys Single submitter ⚠
- p.Asp775Asn Single submitter ⚠
- p.Glu582del Single submitter
- p.Lys230Arg Single submitter ⚠
- p.Pro769= Single submitter
- p.Thr223= Single submitter
- p.Trp407Arg Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
Benign 65
- c.2068+45G>C Multiple submitters
- c.2069-20C>T Multiple submitters
- c.2417+150G>A Multiple submitters
- c.2580+100G>A Multiple submitters
- c.2748-157C>T Multiple submitters
- c.2748-187G>A Multiple submitters
- c.314+100C>T Multiple submitters
- c.399-106C>T Multiple submitters
- c.399-287C>T Multiple submitters
- c.492+7C>T Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- c.492+91G>A Multiple submitters
- c.621+49T>C Multiple submitters
- c.772+114A>G Multiple submitters
- c.773-224A>G Multiple submitters
- c.863+15G>A Multiple submitters
- c.-104G>T Multiple submitters
- c.*51G>A Multiple submitters
- p.Ala106Val Multiple submitters ⚠
- p.Ala389Val Multiple submitters
- p.Ala665= Multiple submitters
- p.Asp939= Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Gln417= Multiple submitters
- p.Glu582dup Multiple submitters
- p.Gly62= Multiple submitters
- p.His243= Multiple submitters
- p.Leu755Ser Multiple submitters
- p.Pro487= Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Pro741= Multiple submitters
- p.Ser61Ala Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Thr326= Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Thr340Met Multiple submitters ⚠
- c.1031-263T>C Single submitter
- c.2068+131A>G Single submitter
- c.2069-14C>T Single submitter
- c.2069-156G>A Single submitter
- c.2069-163C>G Single submitter
- c.2418-207_2418-165dup Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome
- c.2580+255G>A Single submitter
- c.2747+156C>A Single submitter
- c.2747+234del Single submitter
- c.314+7111G>T Single submitter
- c.315-109G>A Single submitter
- c.315-225G>C Single submitter
- c.315-5dup Single submitter
- c.398+210C>T Single submitter
- c.398+269C>T Single submitter
- c.492+102A>G Single submitter
- c.492+153G>A Single submitter
- c.492+228G>A Single submitter
- c.621+184T>C Single submitter
- c.622-132C>T Single submitter
- c.622-273T>G Single submitter
- c.772+276G>A Single submitter
- c.863+10C>T Single submitter
- c.863+247G>A Single submitter
- c.863+398C>T Single submitter
- c.864-7C>T Single submitter
- p.Ala125= Single submitter
- p.Ala5Asp Single submitter ⚠
- p.Arg75= Single submitter
- p.Asp636= Single submitter
- p.Pro98= Single submitter
- p.Val51= Single submitter
- p.Ala496Val No assertion criteria CTDP1-related disorder ⚠
- p.Pro650= No assertion criteria CTDP1-related disorder
Benign/Likely benign 22
- c.2069-7C>T Multiple submitters
- c.2211-6C>T Multiple submitters
- c.2581-5G>T Multiple submitters
- c.2748-4G>T Multiple submitters
- c.315-4G>A Multiple submitters
- c.492+8G>T Multiple submitters
- c.621+17T>C Multiple submitters
- p.Arg747= Multiple submitters
- p.Asp730= Multiple submitters
- p.Cys542= Multiple submitters
- p.Glu534Asp Multiple submitters ⚠
- p.Gly690= Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Gly71= Multiple submitters
- p.Gly914= Multiple submitters
- p.Ile236= Multiple submitters
- p.Leu260= Multiple submitters
- p.Pro262= Multiple submitters
- p.Pro437= Multiple submitters
- p.Pro758= Multiple submitters
- p.Ser356Pro Multiple submitters
- p.Tyr774= Multiple submitters
- p.Val352= Multiple submitters
Likely benign 295
- c.1031-3T>C Multiple submitters
- c.2210+29G>A Multiple submitters
- c.2418-82G>A Multiple submitters
- c.2580+16G>A Multiple submitters
- c.2581-177G>A Multiple submitters
- c.2581-178C>T Multiple submitters
- c.2748-144C>T Multiple submitters
- c.492+8G>A Multiple submitters
- c.622-52G>A Multiple submitters
- c.773-43C>T Multiple submitters
- c.773-87T>G Multiple submitters
- c.863+146G>A Multiple submitters
- c.863+35G>A Multiple submitters
- p.Ala148= Multiple submitters
- p.Ala253= Multiple submitters
- p.Ala56= Multiple submitters
- p.Ala662= Multiple submitters
- p.Ala742= Multiple submitters
- p.Ala807= Multiple submitters
- p.Ala901= Multiple submitters
- p.Ala909= Multiple submitters
- p.Ala927= Multiple submitters
- p.Arg907= Multiple submitters
- p.Gln887= Multiple submitters
- p.Gly26= Multiple submitters
- p.Gly785= Multiple submitters
- p.Gly868= Multiple submitters
- p.His918= Multiple submitters
- p.Ile256= Multiple submitters
- p.Leu663= Multiple submitters
- p.Leu94= Multiple submitters
- p.Pro398= Multiple submitters
- p.Pro745= Multiple submitters
- p.Pro813= Multiple submitters
- p.Ser869= Multiple submitters
- p.Ser872= Multiple submitters
- p.Ser874= Multiple submitters
- p.Ser929= Multiple submitters
- p.Thr16= Multiple submitters
- p.Thr753= Multiple submitters
- p.Thr778= Multiple submitters
- c.1030+11T>A Single submitter
- c.1030+12C>T Single submitter
- c.1030+19G>C Single submitter
- c.1030+7A>G Single submitter
- c.1030+8dup Single submitter
- c.2068+112C>T Single submitter
- c.2069-12G>T Single submitter
- c.2069-13G>A Single submitter
- c.2069-19G>A Single submitter
- c.2069-200C>T Single submitter
- c.2069-9C>T Single submitter
- c.2210+10C>T Single submitter
- c.2210+12C>A Single submitter
- c.2210+15C>T Single submitter
- c.2210+19C>G Single submitter
- c.2210+20A>G Single submitter
- c.2211-10C>T Single submitter
- c.2211-12T>C Single submitter
- c.2211-19C>T Single submitter
- c.2211-5G>A Single submitter
- c.2211-7C>T Single submitter
- c.2211-8_2211-6del Single submitter
- c.2417+10G>A Single submitter
- c.2417+10G>T Single submitter
- c.2417+11G>A Single submitter
- c.2417+20C>G Single submitter
- c.2417+8G>A Single submitter
- c.2417+9C>T Single submitter
- c.2580+10C>T Single submitter
- c.2580+11C>T Single submitter
- c.2580+15C>T Single submitter
- c.2580+16G>C Single submitter
- c.2580+17C>T Single submitter
- c.2580+20C>T Single submitter
- c.2580+8A>C Single submitter
- c.2580+9del Single submitter
- c.2581-222G>A Single submitter
- c.2581-223del Single submitter
- c.2581-7T>G Single submitter
- c.2747+18G>A Single submitter
- c.2747+19G>A Single submitter
- c.2747+296T>G Single submitter
- c.2747+303G>A Single submitter
- c.2747+7G>A Single submitter
- c.2747+8C>T Single submitter
- c.2747+9G>A Single submitter
- c.2748-16G>A Single submitter
- c.314+12G>A Single submitter
- c.314+14G>A Single submitter
- c.314+14G>C Single submitter
- c.314+20C>G Single submitter
- c.314+20C>T Single submitter
- c.315-10T>G Single submitter
- c.315-12G>A Single submitter
- c.315-16T>C Single submitter
- c.315-245G>A Single submitter
- c.315-5T>C Single submitter
- c.315-6T>C Single submitter
- c.398+10C>T Single submitter
- c.398+11G>A Single submitter
- c.398+11G>C Single submitter
- c.398+13A>G Single submitter
- c.399-18C>G Single submitter
- c.399-19C>T Single submitter
- c.399-6T>C Single submitter
- c.399-7C>T Single submitter
- c.399-8A>G Single submitter
- c.492+11_492+14dup Single submitter
- c.492+12A>G Single submitter
- c.492+14C>G Single submitter
- c.492+20C>T Single submitter
- c.492+220_492+221del Single submitter
- c.492+9G>C Single submitter
- c.493-129G>A Single submitter
- c.493-18del Single submitter
- c.493-18G>C Single submitter
- c.493-194G>A Single submitter
- c.493-20T>A Single submitter
- c.621+13A>C Single submitter
- c.622-11A>G Single submitter
- c.622-12T>C Single submitter
- c.622-9T>C Single submitter
- c.772+12C>T Single submitter
- c.772+13G>A Single submitter
- c.772+13G>C Single submitter
- c.772+145G>A Single submitter
- c.772+14C>T Single submitter
- c.772+15A>G Single submitter
- c.772+18C>T Single submitter
- c.772+290A>G Single submitter
- c.772+9A>G Single submitter
- c.773-20G>A Single submitter
- c.773-4C>T Single submitter
- c.863+14C>T Single submitter
- c.863+15G>T Single submitter
- c.863+16C>T Single submitter
- c.863+9C>T Single submitter
- c.864-163G>T Single submitter
- c.864-17T>C Single submitter
- c.-34C>T Single submitter
- c.-49G>C Single submitter
- c.*3G>A Single submitter
- p.Ala103= Single submitter
- p.Ala106= Single submitter
- p.Ala14= Single submitter
- p.Ala17= Single submitter
- p.Ala20= Single submitter
- p.Ala331= Single submitter
- p.Ala389= Single submitter
- p.Ala422Thr Single submitter
- p.Ala473= Single submitter
- p.Ala494= Single submitter
- p.Ala496= Single submitter
- p.Ala50= Single submitter
- p.Ala521Thr Single submitter
- p.Ala55= Single submitter
- p.Ala568Val Single submitter
- p.Ala63= Single submitter
- p.Ala686= Single submitter
- p.Ala69= Single submitter
- p.Ala754= Single submitter
- p.Ala754Thr Single submitter
- p.Ala791= Single submitter
- p.Ala903= Single submitter
- p.Ala946= Single submitter
- p.Ala950= Single submitter
- p.Ala955= Single submitter
- p.Arg288= Single submitter
- p.Arg31= Single submitter
- p.Arg382Gln Single submitter
- p.Arg440Gln Single submitter
- p.Arg670Gln Single submitter
- p.Arg78= Single submitter
- p.Arg82= Single submitter
- p.Arg834= Single submitter
- p.Arg897= Single submitter
- p.Arg92= Single submitter
- p.Arg933= Single submitter
- p.Arg933Gly Single submitter
- p.Asn138= Single submitter
- p.Asn546= Single submitter
- p.Asn739= Single submitter
- p.Asn937= Single submitter
- p.Asn958= Single submitter
- p.Asp261= Single submitter
- p.Asp676= Single submitter
- p.Asp709= Single submitter
- p.Asp775= Single submitter
- p.Asp825= Single submitter
- p.Asp862= Single submitter
- p.Asp870= Single submitter
- p.Asp873= Single submitter
- p.Asp926= Single submitter
- p.Asp947= Single submitter
- p.Cys700= Single submitter
- p.Cys714= Single submitter
- p.Cys95= Single submitter
- p.Gln213= Single submitter
- p.Gln724= Single submitter
- p.Glu167= Single submitter
- p.Glu2= Single submitter
- p.Glu34= Single submitter
- p.Glu586= Single submitter
- p.Glu86= Single submitter
- p.Glu875= Single submitter
- p.Glu883= Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Glu896= Single submitter
- p.Glu948= Single submitter
- p.Gly113= Single submitter
- p.Gly128= Single submitter
- p.Gly258= Single submitter
- p.Gly447= Single submitter
- p.Gly476= Single submitter
- p.Gly701= Single submitter
- p.Gly749= Single submitter
- p.Gly788= Single submitter
- p.Gly917= Single submitter
- p.His195= Single submitter
- p.His732= Single submitter
- p.Ile45= Single submitter
- p.Leu145= Single submitter
- p.Leu145Pro Single submitter
- p.Leu169= Single submitter
- p.Leu225= Single submitter
- p.Leu233= Single submitter
- p.Leu239= Single submitter
- p.Leu242= Single submitter
- p.Leu251= Single submitter
- p.Leu32= Single submitter
- p.Leu715= Single submitter
- p.Leu865= Single submitter
- p.Leu953= Single submitter
- p.Leu960= Single submitter
- p.Lys182= Single submitter
- p.Lys238= Single submitter
- p.Lys666= Single submitter
- p.Phe232= Single submitter
- p.Phe247= Single submitter
- p.Phe52= Single submitter
- p.Pro117= Single submitter
- p.Pro144= Single submitter
- p.Pro15= Single submitter
- p.Pro157= Single submitter
- p.Pro227= Single submitter
- p.Pro27= Single submitter
- p.Pro332= Single submitter
- p.Pro491= Single submitter
- p.Pro505= Single submitter
- p.Pro511Leu Single submitter ⚠
- p.Pro620= Single submitter
- p.Pro646= Single submitter
- p.Pro727= Single submitter
- p.Pro760= Single submitter
- p.Pro809= Single submitter
- p.Pro811= Single submitter
- p.Pro845= Single submitter
- p.Ser155= Single submitter
- p.Ser163= Single submitter
- p.Ser387= Single submitter
- p.Ser458= Single submitter
- p.Ser47= Single submitter
- p.Ser564= Single submitter
- p.Ser60= Single submitter
- p.Ser61= Single submitter
- p.Ser70= Single submitter
- p.Ser740= Single submitter
- p.Ser804= Single submitter
- p.Ser85= Single submitter
- p.Ser905= Single submitter
- p.Ser908= Single submitter
- p.Ser931= Single submitter
- p.Thr147= Single submitter
- p.Thr149= Single submitter
- p.Thr196= Single submitter
- p.Thr197= Single submitter
- p.Thr246= Single submitter
- p.Thr284= Single submitter
- p.Thr340= Single submitter
- p.Thr753Ala Single submitter
- p.Thr784= Single submitter
- p.Thr898= Single submitter
- p.Tyr240= Single submitter
- p.Tyr252= Single submitter
- p.Tyr320= Single submitter
- p.Val107= Single submitter
- p.Val119= Single submitter
- p.Val750Ala Single submitter
- p.Val771= Single submitter
- p.Val9= Single submitter
- c.-5C>T No assertion criteria CTDP1-related disorder
- p.Ala430= No assertion criteria CTDP1-related disorder
- p.Ile685= No assertion criteria CTDP1-related disorder
- p.Lys379= No assertion criteria CTDP1-related disorder
- p.Thr446= No assertion criteria CTDP1-related disorder
Uncertain significance 289
- c.1031-8A>C Multiple submitters
- c.2210+3G>A Multiple submitters
- c.2417+4C>T Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome
- p.Ala20Thr Multiple submitters ⚠
- p.Ala38Val Multiple submitters ⚠
- p.Ala54Ser Multiple submitters ⚠
- p.Ala54Val Multiple submitters ⚠
- p.Ala58Ser Multiple submitters ⚠
- p.Ala69Asp Multiple submitters ⚠
- p.Ala69Val Multiple submitters ⚠
- p.Ala742Val Multiple submitters ⚠
- p.Ala754Ser Multiple submitters ⚠
- p.Ala791Val Multiple submitters ⚠
- p.Ala823Thr Multiple submitters ⚠
- p.Ala903Val Multiple submitters ⚠
- p.Ala909Val Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Ala910Thr Multiple submitters ⚠
- p.Ala927Thr Multiple submitters ⚠
- p.Ala928Thr Multiple submitters ⚠
- p.Arg176Gln Multiple submitters ⚠
- p.Arg179Gln Multiple submitters ⚠
- p.Arg610His Multiple submitters CTDP1-related disorder ⚠
- p.Arg623His Multiple submitters ⚠
- p.Arg655Gln Multiple submitters ⚠
- p.Arg747Gln Multiple submitters ⚠
- p.Arg747Trp Multiple submitters ⚠
- p.Arg772Gln Multiple submitters ⚠
- p.Arg78Trp Multiple submitters ⚠
- p.Arg889Gln Multiple submitters ⚠
- p.Arg894His Multiple submitters ⚠
- p.Arg897Gln Multiple submitters ⚠
- p.Arg897Trp Multiple submitters ⚠
- p.Arg913Gln Multiple submitters ⚠
- p.Arg92Gln Multiple submitters ⚠
- p.Asn138Ser Multiple submitters ⚠
- p.Asn345Ile Multiple submitters ⚠
- p.Asn958His Multiple submitters ⚠
- p.Asp870Asn Multiple submitters ⚠
- p.Asp873Asn Multiple submitters ⚠
- p.Cys24Phe Multiple submitters ⚠
- p.Gln100Arg Multiple submitters ⚠
- p.Gln133Arg Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Gln800Arg Multiple submitters ⚠
- p.Glu388Lys Multiple submitters ⚠
- p.Glu819Ala Multiple submitters ⚠
- p.Glu875Lys Multiple submitters ⚠
- p.Gly139Arg Multiple submitters ⚠
- p.Gly26Glu Multiple submitters ⚠
- p.Gly46Ser Multiple submitters ⚠
- p.Gly515Arg Multiple submitters CTDP1-related disorder ⚠
- p.Gly701Arg Multiple submitters ⚠
- p.Gly72Asp Multiple submitters ⚠
- p.Gly892Glu Multiple submitters ⚠
- p.Gly900Arg Multiple submitters ⚠
- p.Leu266Ile Multiple submitters ⚠
- p.Leu695Val Multiple submitters ⚠
- p.Leu94Met Multiple submitters ⚠
- p.Lys835Arg Multiple submitters ⚠
- p.Pro144Leu Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Pro15Ser Multiple submitters ⚠
- p.Pro511Ser Multiple submitters ⚠
- p.Pro741Ser Multiple submitters ⚠
- p.Pro760Leu Multiple submitters ⚠
- p.Pro792Ser Multiple submitters ⚠
- p.Pro811Ser Multiple submitters ⚠
- p.Ser57Cys Multiple submitters ⚠
- p.Ser794Thr Multiple submitters ⚠
- p.Thr147Met Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Thr223Met Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Val244Ile Multiple submitters ⚠
- p.Val74Leu Multiple submitters congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- c.2417+5G>A Single submitter
- c.399-1G>A Single submitter
- c.621+6T>C Single submitter
- c.772+5G>A Single submitter
- c.864-3_864-1del Single submitter
- c.864-3T>C Single submitter
- c.864-5T>A Single submitter
- c.*13G>A Single submitter
- p.871DS[1] Single submitter
- p.Ala18Val Single submitter ⚠
- p.Ala20Ser Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala368Thr Single submitter ⚠
- p.Ala422Ser Single submitter ⚠
- p.Ala489Pro Single submitter ⚠
- p.Ala496Thr Single submitter ⚠
- p.Ala498Val Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Ala619Val Single submitter ⚠
- p.Ala63Ser Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala662Val Single submitter ⚠
- p.Ala677Thr Single submitter ⚠
- p.Ala681Asp Single submitter ⚠
- p.Ala686Thr Single submitter ⚠
- p.Ala689Val Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala765Ser Single submitter ⚠
- p.Ala765Val Single submitter ⚠
- p.Ala77Glu Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala807Glu Single submitter ⚠
- p.Ala807Val Single submitter ⚠
- p.Ala88Gly Single submitter ⚠
- p.Ala910fs Single submitter
- p.Ala950Val Single submitter ⚠
- p.Ala952Val Single submitter ⚠
- p.Arg179Ter Single submitter
- p.Arg224Gly Single submitter ⚠
- p.Arg31Leu Single submitter ⚠
- p.Arg348Ter Single submitter
- p.Arg36Lys Single submitter ⚠
- p.Arg36Thr Single submitter ⚠
- p.Arg393Trp Single submitter ⚠
- p.Arg397His Single submitter ⚠
- p.Arg434Gln Single submitter ⚠
- p.Arg440Trp Single submitter ⚠
- p.Arg482Thr Single submitter ⚠
- p.Arg484Gln Single submitter ⚠
- p.Arg507Trp Single submitter ⚠
- p.Arg655Trp Single submitter ⚠
- p.Arg717Cys Single submitter ⚠
- p.Arg717His Single submitter ⚠
- p.Arg747Gly Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg787Trp Single submitter ⚠
- p.Arg799His Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Arg889Trp Single submitter ⚠
- p.Arg894Leu Single submitter ⚠
- p.Arg913Trp Single submitter ⚠
- p.Asn313Ser Single submitter ⚠
- p.Asn613Lys Single submitter ⚠
- p.Asn648Asp Single submitter ⚠
- p.Asn958Lys Single submitter ⚠
- p.Asp588Asn Single submitter ⚠
- p.Asp730Glu Single submitter ⚠
- p.Asp731Asn Single submitter ⚠
- p.Asp731Gly Single submitter ⚠
- p.Asp863Asn Single submitter ⚠
- p.Asp871Asn Single submitter ⚠
- p.Asp939Gly Single submitter
- p.Asp947Asn Single submitter ⚠
- p.Asp959Asn Single submitter ⚠
- p.Cys127Tyr Single submitter ⚠
- p.Cys95Ter Single submitter
- p.Gln135Arg Single submitter ⚠
- p.Gln142Leu Single submitter ⚠
- p.Gln165Pro Single submitter ⚠
- p.Gln202Ter Single submitter
- p.Gln443Pro Single submitter ⚠
- p.Gln59Glu Single submitter ⚠
- p.Gln736Glu Single submitter ⚠
- p.Gln812Arg Single submitter ⚠
- p.Gln837Pro Single submitter ⚠
- p.Gln882Arg Single submitter ⚠
- p.Gln882His Single submitter ⚠
- p.Gln882Pro Single submitter ⚠
- p.Glu12Gln Single submitter ⚠
- p.Glu164Gln Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu263Lys Single submitter ⚠
- p.Glu2Asp Single submitter ⚠
- p.Glu337Lys Single submitter ⚠
- p.Glu34Asp Single submitter ⚠
- p.Glu465Lys Single submitter ⚠
- p.Glu477Lys Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu504Asp Single submitter ⚠
- p.Glu537Lys Single submitter ⚠
- p.Glu580Asp Single submitter ⚠
- p.Glu628Asp Single submitter ⚠
- p.Glu723Gln Single submitter ⚠
- p.Glu738Lys Single submitter ⚠
- p.Glu748Asp Single submitter ⚠
- p.Glu770Lys Single submitter ⚠
- p.Glu801Lys Single submitter ⚠
- p.Glu827Gln Single submitter ⚠
- p.Glu884Gly Single submitter ⚠
- p.Glu906Lys Single submitter ⚠
- p.Glu930Lys Single submitter ⚠
- p.Glu938Lys Single submitter ⚠
- p.Glu93Gln Single submitter ⚠
- p.Glu940Lys Single submitter
- p.Gly215Ala Single submitter ⚠
- p.Gly217Ala Single submitter ⚠
- p.Gly248Ala Single submitter ⚠
- p.Gly349Asp Single submitter ⚠
- p.Gly399Arg Single submitter ⚠
- p.Gly432Ser Single submitter ⚠
- p.Gly500Ser Single submitter ⚠
- p.Gly531Asp Single submitter ⚠
- p.Gly540Val Single submitter ⚠
- p.Gly565Glu Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.Gly62Glu Single submitter ⚠
- p.Gly71Glu Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.Gly911Arg Single submitter ⚠
- p.Gly912Asp Single submitter ⚠
- p.His254Leu Single submitter ⚠
- p.His683Arg Single submitter ⚠
- p.Ile236Thr Single submitter ⚠
- p.Ile639Val Single submitter congenital cataracts-facial dysmorphism-neuropathy syndrome ⚠
- p.Ile651Met Single submitter ⚠
- p.Ile782Leu Single submitter ⚠
- p.Leu541Phe Single submitter ⚠
- p.Leu541Pro Single submitter ⚠
- p.Lys235Glu Single submitter ⚠
- p.Lys318= Single submitter
- p.Lys379Asn Single submitter ⚠
- p.Lys624Arg Single submitter ⚠
- p.Lys780Glu Single submitter ⚠
- p.Lys876Asn Single submitter ⚠
- p.Met120Ile Single submitter ⚠
- p.Met961fs Single submitter
- p.Phe291Tyr Single submitter ⚠
- p.Phe52Leu Single submitter ⚠
- p.Phe649Ile Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
- p.Pro392Arg Single submitter ⚠
- p.Pro408Ser Single submitter ⚠
- p.Pro437Leu Single submitter ⚠
- p.Pro441Arg Single submitter ⚠
- p.Pro524Ala Single submitter ⚠
- p.Pro620Leu Single submitter ⚠
- p.Pro646Leu Single submitter ⚠
- p.Pro650Leu Single submitter ⚠
- p.Pro727Leu Single submitter ⚠
- p.Pro758Leu Single submitter ⚠
- p.Pro76Arg Single submitter ⚠
- p.Pro790Ala Single submitter ⚠
- p.Pro797Ser Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Pro809Leu Single submitter ⚠
- p.Pro829Ala Single submitter ⚠
- p.Pro831Ser Single submitter ⚠
- p.Pro886Ser Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser205Ala Single submitter ⚠
- p.Ser374Thr Single submitter ⚠
- p.Ser455Phe Single submitter ⚠
- p.Ser471Phe Single submitter ⚠
- p.Ser472Ala Single submitter ⚠
- p.Ser474Phe Single submitter ⚠
- p.Ser478Arg Single submitter ⚠
- p.Ser60Phe Single submitter ⚠
- p.Ser64Pro Single submitter ⚠
- p.Ser794Gly Single submitter ⚠
- p.Ser795Cys Single submitter ⚠
- p.Ser804Tyr Single submitter ⚠
- p.Ser856Asn Single submitter ⚠
- p.Ser85Leu Single submitter ⚠
- p.Ser874Asn Single submitter ⚠
- p.Thr132Ile Single submitter ⚠
- p.Thr16Pro Single submitter ⚠
- p.Thr284Met Single submitter ⚠
- p.Thr326Met Single submitter ⚠
- p.Thr366Met Single submitter ⚠
- p.Thr391Ser Single submitter ⚠
- p.Thr446Met Single submitter ⚠
- p.Thr467Lys Single submitter ⚠
- p.Thr467Met Single submitter ⚠
- p.Thr647Ile Single submitter ⚠
- p.Thr654Met Single submitter ⚠
- p.Thr682Met Single submitter ⚠
- p.Thr778Met Single submitter ⚠
- p.Thr784Met Single submitter ⚠
- p.Thr784Ser Single submitter ⚠
- p.Thr898Lys Single submitter ⚠
- p.Thr898Met Single submitter ⚠
- p.Tyr658His Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val187Leu Single submitter ⚠
- p.Val359Met Single submitter ⚠
- p.Val365Leu Single submitter ⚠
- p.Val37Met Single submitter ⚠
- p.Val705Met Single submitter ⚠
- p.Val706Leu Single submitter ⚠
- p.Val90Met Single submitter ⚠
- p.Ser575Gly No assertion criteria ⚠