NPC1L1 — 250 ClinVar variants
All ClinVar germline NPC1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →
14 Benign · 1 Benign/Likely benign · 47 Likely benign · 188 Uncertain significance
Full NPC1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 181
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 131
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NPC1L1 c.3137-1261C>T Uncertain significance Single submitter
- NPC1L1 c.3137-1268A>G Uncertain significance Single submitter
- NPC1L1 c.3137-1289C>A Uncertain significance Single submitter
- NPC1L1 c.3137-1291C>T Uncertain significance Single submitter
- NPC1L1 c.3137-1304G>A Uncertain significance Single submitter
- NPC1L1 p.Ala1068Gly Uncertain significance Single submitter
- NPC1L1 p.Ala1211Glu Uncertain significance Single submitter
- NPC1L1 p.Ala1230Ser Uncertain significance Single submitter
- NPC1L1 p.Ala143Thr Uncertain significance Single submitter
- NPC1L1 p.Ala228Pro Uncertain significance Single submitter
- NPC1L1 p.Ala228Thr Uncertain significance Single submitter
- NPC1L1 p.Ala271Thr Uncertain significance Single submitter
- NPC1L1 p.Ala367Thr Uncertain significance Single submitter
- NPC1L1 p.Ala368Val Uncertain significance Single submitter
- NPC1L1 p.Ala414Asp Uncertain significance Single submitter
- NPC1L1 p.Ala473Thr Uncertain significance Single submitter
- NPC1L1 p.Ala528Val Uncertain significance Single submitter
- NPC1L1 p.Ala537Asp Uncertain significance Single submitter
- NPC1L1 p.Ala666Thr Uncertain significance Single submitter
- NPC1L1 p.Ala666Val Uncertain significance Single submitter
- NPC1L1 p.Ala674Val Uncertain significance Single submitter
- NPC1L1 p.Ala835Ser Uncertain significance Single submitter
- NPC1L1 p.Ala855Thr Uncertain significance Single submitter
- NPC1L1 p.Ala876Asp Uncertain significance Single submitter
- NPC1L1 p.Ala898Val Uncertain significance Single submitter
- NPC1L1 p.Arg1019Trp Uncertain significance Single submitter
- NPC1L1 p.Arg1136His Uncertain significance Single submitter
- NPC1L1 p.Arg1298Gln Uncertain significance Single submitter
- NPC1L1 p.Arg1330Trp Uncertain significance Single submitter
- NPC1L1 p.Arg141His Uncertain significance Single submitter
- NPC1L1 p.Arg17Cys Uncertain significance Single submitter
- NPC1L1 p.Arg242His Uncertain significance Single submitter
- NPC1L1 p.Arg417Gln Uncertain significance Single submitter
- NPC1L1 p.Arg421Gly Uncertain significance Single submitter
- NPC1L1 p.Arg452Trp Uncertain significance Single submitter
- NPC1L1 p.Arg585Gly Uncertain significance Single submitter
- NPC1L1 p.Arg601Leu Uncertain significance Single submitter
- NPC1L1 p.Arg605His Uncertain significance Single submitter
- NPC1L1 p.Arg606Gln Uncertain significance Single submitter
- NPC1L1 p.Arg64His Uncertain significance Single submitter
- NPC1L1 p.Arg693His Uncertain significance Single submitter
- NPC1L1 p.Arg738Gly Uncertain significance Single submitter
- NPC1L1 p.Asn1075Ser Uncertain significance Single submitter
- NPC1L1 p.Asn1304Asp Uncertain significance Single submitter
- NPC1L1 p.Asn408Thr Uncertain significance Single submitter
- NPC1L1 p.Asn479Asp Uncertain significance Single submitter
- NPC1L1 p.Asn891Ser Uncertain significance Single submitter
- NPC1L1 p.Asn926Ser Uncertain significance Single submitter
- NPC1L1 p.Asn927Ile Uncertain significance Single submitter
- NPC1L1 p.Asp1087Glu Uncertain significance Single submitter
- NPC1L1 p.Asp250Glu Uncertain significance Single submitter
- NPC1L1 p.Asp312His Uncertain significance Single submitter
- NPC1L1 p.Asp327Asn Uncertain significance Single submitter
- NPC1L1 p.Asp563Gly Uncertain significance Single submitter
- NPC1L1 p.Cys113Tyr Uncertain significance Single submitter
- NPC1L1 p.Cys259Tyr Uncertain significance Single submitter
- NPC1L1 p.Cys57Tyr Uncertain significance Single submitter
- NPC1L1 p.Gln1277Lys Uncertain significance Single submitter
- NPC1L1 p.Gln149Arg Uncertain significance Single submitter
- NPC1L1 p.Gln462Arg Uncertain significance Single submitter
- NPC1L1 p.Gln507Lys Uncertain significance Single submitter
- NPC1L1 p.Glu166Lys Uncertain significance Single submitter
- NPC1L1 p.Gly5Ser Uncertain significance Single submitter
- NPC1L1 p.Gly822Asp Uncertain significance Single submitter
- NPC1L1 p.Gly824Arg Uncertain significance Single submitter
- NPC1L1 p.His1253Tyr Uncertain significance Single submitter
- NPC1L1 p.Ile1191Met Uncertain significance Single submitter
- NPC1L1 p.Ile1224Asn Uncertain significance Single submitter
- NPC1L1 p.Ile266Val Uncertain significance Single submitter
- NPC1L1 p.Ile470Val Uncertain significance Single submitter
- NPC1L1 p.Ile641Thr Uncertain significance Single submitter
- NPC1L1 p.Ile77Val Uncertain significance Single submitter
- NPC1L1 p.Leu1116Ile Uncertain significance Single submitter
- NPC1L1 p.Leu1118Pro Uncertain significance Single submitter
- NPC1L1 p.Leu1244Val Uncertain significance Single submitter
- NPC1L1 p.Leu591Pro Uncertain significance Single submitter
- NPC1L1 p.Leu597Val Uncertain significance Single submitter
- NPC1L1 p.Leu760Pro Uncertain significance Single submitter
- NPC1L1 p.Leu829Phe Uncertain significance Single submitter
- NPC1L1 p.Leu961Pro Uncertain significance Single submitter
- NPC1L1 p.Lys328Glu Uncertain significance Single submitter
- NPC1L1 p.Lys65Arg Uncertain significance Single submitter
- NPC1L1 p.Met1218Val Uncertain significance Single submitter
- NPC1L1 p.Met1288Thr Uncertain significance Single submitter
- NPC1L1 p.Met316Ile Uncertain significance Single submitter
- NPC1L1 p.Met510Thr Uncertain significance Single submitter
- NPC1L1 p.Met510Val Uncertain significance Single submitter
- NPC1L1 p.Met616Val Uncertain significance Single submitter
- NPC1L1 p.Met998Thr Uncertain significance Single submitter
- NPC1L1 p.Phe1311Ser Uncertain significance Single submitter
- NPC1L1 p.Phe1324Cys Uncertain significance Single submitter
- NPC1L1 p.Phe522Cys Uncertain significance Single submitter
- NPC1L1 p.Pro1271Leu Uncertain significance Single submitter
- NPC1L1 p.Pro1293Ser Uncertain significance Single submitter
- NPC1L1 p.Pro30Leu Uncertain significance Single submitter
- NPC1L1 p.Pro30Ser Uncertain significance Single submitter
- NPC1L1 p.Pro549Thr Uncertain significance Single submitter
- NPC1L1 p.Pro728Ser Uncertain significance Single submitter
- NPC1L1 p.Pro815Ser Uncertain significance Single submitter
- NPC1L1 p.Ser104Leu Uncertain significance Single submitter
- NPC1L1 p.Ser1173Leu Uncertain significance Single submitter
- NPC1L1 p.Ser284Cys Uncertain significance Single submitter
- NPC1L1 p.Ser419Ile Uncertain significance Single submitter
- NPC1L1 p.Ser466Pro Uncertain significance Single submitter
- NPC1L1 p.Ser620Phe Uncertain significance Single submitter
- NPC1L1 p.Ser695Cys Uncertain significance Single submitter
- NPC1L1 p.Thr1247Ser Uncertain significance Single submitter
- NPC1L1 p.Thr187Ala Uncertain significance Single submitter
- NPC1L1 p.Thr335Asn Uncertain significance Single submitter
- NPC1L1 p.Thr346Met Uncertain significance Single submitter
- NPC1L1 p.Thr376Ser Uncertain significance Single submitter
- NPC1L1 p.Thr667Met Uncertain significance Single submitter
- NPC1L1 p.Thr67Arg Uncertain significance Single submitter
- NPC1L1 p.Thr67Ile Uncertain significance Single submitter
- NPC1L1 p.Thr67Ser Uncertain significance Single submitter
- NPC1L1 p.Thr997Met Uncertain significance Single submitter
- NPC1L1 p.Tyr472Cys Uncertain significance Single submitter
- NPC1L1 p.Tyr546Phe Uncertain significance Single submitter
- NPC1L1 p.Tyr559Cys Uncertain significance Single submitter
- NPC1L1 p.Tyr970Phe Uncertain significance Single submitter
- NPC1L1 p.Val1092Ile Uncertain significance Single submitter
- NPC1L1 p.Val1150Met Uncertain significance Single submitter
- NPC1L1 p.Val1265Met Uncertain significance Single submitter
- NPC1L1 p.Val1284Leu Uncertain significance Single submitter
- NPC1L1 p.Val191Met Uncertain significance Single submitter
- NPC1L1 p.Val317Met Uncertain significance Single submitter
- NPC1L1 p.Val360Ala Uncertain significance Single submitter
- NPC1L1 p.Val371Phe Uncertain significance Single submitter
- NPC1L1 p.Val701Met Uncertain significance Single submitter
- NPC1L1 p.Val984Asp Uncertain significance Single submitter
- NPC1L1 p.Val984Ile Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- NPC1L1 p.Ala13Asp Uncertain significance Single submitter
- NPC1L1 p.Ala569Thr Uncertain significance Single submitter
- NPC1L1 p.Ala768Thr Uncertain significance Single submitter
- NPC1L1 p.Arg112His Uncertain significance Single submitter
- NPC1L1 p.Arg406Gln Uncertain significance Single submitter
- NPC1L1 p.Arg463Ser Uncertain significance Single submitter
-
NPC1L1 p.Arg498His
Uncertain significance
Single submitter
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
- NPC1L1 p.Arg585Cys Uncertain significance Single submitter
- NPC1L1 p.Arg605Cys Uncertain significance Single submitter
- NPC1L1 p.Arg619Cys Uncertain significance Single submitter
- NPC1L1 p.Arg619Leu Uncertain significance Single submitter
- NPC1L1 p.Arg627Cys Uncertain significance Single submitter
- NPC1L1 p.Arg806Trp Uncertain significance Single submitter
- NPC1L1 p.Asn909Ser Uncertain significance Single submitter
- NPC1L1 p.Asp1087Tyr Uncertain significance Single submitter
- NPC1L1 p.Asp398Asn Uncertain significance Single submitter
- NPC1L1 p.Asp798Asn Uncertain significance Single submitter
- NPC1L1 p.Gln206Pro Uncertain significance Single submitter
- NPC1L1 p.Gly547Arg Uncertain significance Single submitter
- NPC1L1 p.Gly671Ser Uncertain significance Single submitter
- NPC1L1 p.His397Arg Uncertain significance Single submitter
- NPC1L1 p.Ile625Thr Uncertain significance Single submitter
- NPC1L1 p.Ile716Val Uncertain significance Single submitter
- NPC1L1 p.Ile736Thr Uncertain significance Single submitter
- NPC1L1 p.Ile958Thr Uncertain significance Single submitter
- NPC1L1 p.Leu1029Gln Uncertain significance Single submitter
- NPC1L1 p.Leu11Pro Uncertain significance Single submitter
- NPC1L1 p.Leu538Pro Uncertain significance Single submitter
- NPC1L1 p.Leu890Arg Uncertain significance Single submitter
- NPC1L1 p.Met747Ile Uncertain significance Single submitter
- NPC1L1 p.Phe1311Leu Uncertain significance Single submitter
- NPC1L1 p.Phe644Val Uncertain significance Single submitter
- NPC1L1 p.Phe686Cys Uncertain significance Single submitter
- NPC1L1 p.Pro225Leu Uncertain significance Single submitter
- NPC1L1 p.Pro477Leu Uncertain significance Single submitter
- NPC1L1 p.Ser102Arg Uncertain significance Single submitter
- NPC1L1 p.Ser104Trp Uncertain significance Single submitter
- NPC1L1 p.Ser965Phe Uncertain significance Single submitter
- NPC1L1 p.Thr1152Ala Uncertain significance Single submitter
- NPC1L1 p.Thr377Met Uncertain significance Single submitter
- NPC1L1 p.Thr531Ile Uncertain significance Single submitter
- NPC1L1 p.Thr87Ile Uncertain significance Single submitter
- NPC1L1 p.Thr904Ile Uncertain significance Single submitter
- NPC1L1 p.Tyr945His Uncertain significance Single submitter
- NPC1L1 p.Val1226Ala Uncertain significance Single submitter
- NPC1L1 p.Val153Ala Uncertain significance Single submitter
- NPC1L1 p.Val380Met Uncertain significance Single submitter
- NPC1L1 p.Val706Met Uncertain significance Single submitter
- NPC1L1 p.Val709Met Uncertain significance Single submitter
-
NPC1L1 p.Arg417Trp
Likely benign
No assertion criteria
NPC1L1-related disorder
All NPC1L1 variants
Benign 14
- c.3080+9G>A Single submitter
- c.3634-9A>C Single submitter
- p.Ala835= Single submitter
- p.Arg1067Gln Single submitter
- p.Asp1087His Single submitter
- p.Asp273Tyr Single submitter
- p.Leu272= Single submitter
- p.Pro821= Single submitter
- p.Pro974Ser Single submitter
- p.Tyr1264= Single submitter
- p.Val1269= Single submitter
- p.Ala310Ser No assertion criteria NPC1L1-related disorder
- p.Glu1281Lys No assertion criteria NPC1L1-related disorder
- p.Val360Ile No assertion criteria NPC1L1-related disorder
Benign/Likely benign 1
- p.Asn891= Multiple submitters
Likely benign 47
- p.Ile1206Asn Multiple submitters
- p.Leu353= Multiple submitters
- p.Pro838= Multiple submitters
- p.Val177Ile Multiple submitters
- c.2828+15C>T Single submitter
- c.2828+20C>A Single submitter
- c.3137-1305A>G Single submitter
- c.3520-16C>G Single submitter
- c.3520-19G>T Single submitter
- c.3797-11TC[2] Single submitter
- p.Ala214= Single submitter
- p.Ala271Ser Single submitter
- p.Ala271Val Single submitter
- p.Arg1330Gln Single submitter
- p.Arg176= Single submitter
- p.Arg176His Single submitter
- p.Arg268His Single submitter
- p.Asn1328Ser Single submitter
- p.Gln1104His Single submitter
- p.Gln816Arg Single submitter
- p.Glu598= Single submitter
- p.Gly1027= Single submitter
- p.Gly402= Single submitter
- p.His221Tyr Single submitter
- p.Ile844Val Single submitter
- p.Leu1130= Single submitter
- p.Leu828= Single submitter
- p.Leu906Ser Single submitter
- p.Pro1055= Single submitter
- p.Pro1259= Single submitter
- p.Pro362Leu Single submitter
- p.Pro820Leu Single submitter
- p.Ser384= Single submitter
- p.Thr299Ala Single submitter
- p.Thr377= Single submitter
- p.Thr775= Single submitter
- p.Val1100= Single submitter
- p.Val1172= Single submitter
- p.Val1269Ile Single submitter
- p.Ala2= No assertion criteria NPC1L1-related disorder
- p.Arg417Trp No assertion criteria NPC1L1-related disorder ⚠
- p.Leu645= No assertion criteria NPC1L1-related disorder
- p.Phe574= No assertion criteria NPC1L1-related disorder
- p.Pro282= No assertion criteria NPC1L1-related disorder
- p.Ser458= No assertion criteria NPC1L1-related disorder
- p.Thr275= No assertion criteria NPC1L1-related disorder
- p.Thr346= No assertion criteria NPC1L1-related disorder
Uncertain significance 188
- c.3137-1261C>T Single submitter ⚠
- c.3137-1268A>G Single submitter ⚠
- c.3137-1289C>A Single submitter ⚠
- c.3137-1291C>T Single submitter ⚠
- c.3137-1304G>A Single submitter ⚠
- p.Ala1068Gly Single submitter ⚠
- p.Ala1211Glu Single submitter ⚠
- p.Ala1230Ser Single submitter ⚠
- p.Ala1230Thr Single submitter
- p.Ala13Asp Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala228Pro Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala414Asp Single submitter ⚠
- p.Ala473Thr Single submitter ⚠
- p.Ala528Val Single submitter ⚠
- p.Ala537Asp Single submitter ⚠
- p.Ala569Thr Single submitter ⚠
- p.Ala666Thr Single submitter ⚠
- p.Ala666Val Single submitter ⚠
- p.Ala674Val Single submitter ⚠
- p.Ala768Thr Single submitter ⚠
- p.Ala835Ser Single submitter ⚠
- p.Ala855Thr Single submitter ⚠
- p.Ala876Asp Single submitter ⚠
- p.Ala898Val Single submitter ⚠
- p.Arg1019Trp Single submitter ⚠
- p.Arg112His Single submitter ⚠
- p.Arg1136His Single submitter ⚠
- p.Arg1298Gln Single submitter ⚠
- p.Arg1330Trp Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg242His Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg421Gly Single submitter ⚠
- p.Arg452Trp Single submitter ⚠
- p.Arg463Ser Single submitter ⚠
- p.Arg498His Single submitter LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 ⚠
- p.Arg585Cys Single submitter ⚠
- p.Arg585Gly Single submitter ⚠
- p.Arg601Leu Single submitter ⚠
- p.Arg605Cys Single submitter ⚠
- p.Arg605His Single submitter ⚠
- p.Arg606Gln Single submitter ⚠
- p.Arg619Cys Single submitter ⚠
- p.Arg619Leu Single submitter ⚠
- p.Arg627Cys Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Arg693His Single submitter ⚠
- p.Arg738Gly Single submitter ⚠
- p.Arg806Trp Single submitter ⚠
- p.Asn1075Ser Single submitter ⚠
- p.Asn1304Asp Single submitter ⚠
- p.Asn408Thr Single submitter ⚠
- p.Asn479Asp Single submitter ⚠
- p.Asn891Ser Single submitter ⚠
- p.Asn909Ser Single submitter ⚠
- p.Asn926Ser Single submitter ⚠
- p.Asn927Ile Single submitter ⚠
- p.Asp1087Glu Single submitter ⚠
- p.Asp1087Tyr Single submitter ⚠
- p.Asp250Glu Single submitter ⚠
- p.Asp312His Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Asp563Gly Single submitter ⚠
- p.Asp798Asn Single submitter ⚠
- p.Cys113Tyr Single submitter ⚠
- p.Cys259Tyr Single submitter ⚠
- p.Cys57Tyr Single submitter ⚠
- p.Gln1277Lys Single submitter ⚠
- p.Gln149Arg Single submitter ⚠
- p.Gln206Pro Single submitter ⚠
- p.Gln462Arg Single submitter ⚠
- p.Gln507Lys Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu895Asp Single submitter
- p.Gly547Arg Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly671Ser Single submitter ⚠
- p.Gly822Asp Single submitter ⚠
- p.Gly824Arg Single submitter ⚠
- p.His1253Tyr Single submitter ⚠
- p.His397Arg Single submitter ⚠
- p.Ile1191Met Single submitter ⚠
- p.Ile1224Asn Single submitter ⚠
- p.Ile218Leu Single submitter
- p.Ile266Val Single submitter ⚠
- p.Ile470Val Single submitter ⚠
- p.Ile625Thr Single submitter ⚠
- p.Ile641Thr Single submitter ⚠
- p.Ile716Val Single submitter ⚠
- p.Ile736Thr Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Ile958Thr Single submitter ⚠
- p.Leu1029Gln Single submitter ⚠
- p.Leu1116Ile Single submitter ⚠
- p.Leu1118Pro Single submitter ⚠
- p.Leu11Pro Single submitter ⚠
- p.Leu1244Val Single submitter ⚠
- p.Leu538Pro Single submitter ⚠
- p.Leu591Pro Single submitter ⚠
- p.Leu597Val Single submitter ⚠
- p.Leu760Pro Single submitter ⚠
- p.Leu829Phe Single submitter ⚠
- p.Leu890Arg Single submitter ⚠
- p.Leu961Pro Single submitter ⚠
- p.Lys328Glu Single submitter ⚠
- p.Lys65Arg Single submitter ⚠
- p.Met1218Val Single submitter ⚠
- p.Met1288Thr Single submitter ⚠
- p.Met316Ile Single submitter ⚠
- p.Met510Thr Single submitter ⚠
- p.Met510Val Single submitter ⚠
- p.Met616Val Single submitter ⚠
- p.Met747Ile Single submitter ⚠
- p.Met998Thr Single submitter ⚠
- p.Phe1311Leu Single submitter ⚠
- p.Phe1311Ser Single submitter ⚠
- p.Phe1324Cys Single submitter ⚠
- p.Phe405Leu Single submitter
- p.Phe522Cys Single submitter ⚠
- p.Phe644Val Single submitter ⚠
- p.Phe686Cys Single submitter ⚠
- p.Pro1271Leu Single submitter ⚠
- p.Pro1293Ser Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro30Ser Single submitter ⚠
- p.Pro477Leu Single submitter ⚠
- p.Pro549Thr Single submitter ⚠
- p.Pro728Ser Single submitter ⚠
- p.Pro815Ser Single submitter ⚠
- p.Ser102Arg Single submitter ⚠
- p.Ser104Leu Single submitter ⚠
- p.Ser104Trp Single submitter ⚠
- p.Ser1173Leu Single submitter ⚠
- p.Ser284Cys Single submitter ⚠
- p.Ser419Ile Single submitter ⚠
- p.Ser466Pro Single submitter ⚠
- p.Ser620Phe Single submitter ⚠
- p.Ser695Cys Single submitter ⚠
- p.Ser965Phe Single submitter ⚠
- p.Thr1034Ile Single submitter
- p.Thr1152Ala Single submitter ⚠
- p.Thr1247Ser Single submitter ⚠
- p.Thr187Ala Single submitter ⚠
- p.Thr335Asn Single submitter ⚠
- p.Thr346Met Single submitter ⚠
- p.Thr376Ser Single submitter ⚠
- p.Thr377Met Single submitter ⚠
- p.Thr531Ile Single submitter ⚠
- p.Thr667Met Single submitter ⚠
- p.Thr67Arg Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Thr67Ser Single submitter ⚠
- p.Thr87Ile Single submitter ⚠
- p.Thr904Ile Single submitter ⚠
- p.Thr997Met Single submitter ⚠
- p.Tyr32Cys Single submitter
- p.Tyr472Cys Single submitter ⚠
- p.Tyr546Phe Single submitter ⚠
- p.Tyr559Cys Single submitter ⚠
- p.Tyr945His Single submitter ⚠
- p.Tyr970Phe Single submitter ⚠
- p.Val1083Met Single submitter
- p.Val1092Ile Single submitter ⚠
- p.Val1150Met Single submitter ⚠
- p.Val1226Ala Single submitter ⚠
- p.Val1265Met Single submitter ⚠
- p.Val1284Leu Single submitter ⚠
- p.Val153Ala Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val317Met Single submitter ⚠
- p.Val360Ala Single submitter ⚠
- p.Val371Phe Single submitter ⚠
- p.Val380Met Single submitter ⚠
- p.Val701Met Single submitter ⚠
- p.Val706Met Single submitter ⚠
- p.Val709Met Single submitter ⚠
- p.Val984Asp Single submitter ⚠
- p.Val984Ile Single submitter ⚠
- p.Gly190= No assertion criteria