DGKZ — 542 ClinVar variants
All ClinVar germline DGKZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →
1 Pathogenic · 5 Conflicting · 32 Benign · 3 Benign/Likely benign · 184 Likely benign · 317 Uncertain significance
Full DGKZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 177
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.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGKZ p.Ala204Ser Uncertain significance Multiple submitters
- DGKZ p.Ala248Thr Uncertain significance Multiple submitters
- DGKZ p.Ala423Thr Uncertain significance Multiple submitters
- DGKZ p.Ala571Thr Uncertain significance Multiple submitters
- DGKZ p.Ala866Val Uncertain significance Multiple submitters
- DGKZ p.Ala882Thr Uncertain significance Multiple submitters
- DGKZ p.Arg178Gln Uncertain significance Multiple submitters
- DGKZ p.Arg505Gln Uncertain significance Multiple submitters
- DGKZ p.Arg780Trp Uncertain significance Multiple submitters
- DGKZ p.Arg824Cys Uncertain significance Multiple submitters
- DGKZ p.Arg824Ser Uncertain significance Multiple submitters
- DGKZ p.Arg840Cys Uncertain significance Multiple submitters
- DGKZ p.Asp181Glu Uncertain significance Multiple submitters
- DGKZ p.Cys861Ser Uncertain significance Multiple submitters
- DGKZ p.Glu78Asp Uncertain significance Multiple submitters
- DGKZ p.Glu849Lys Uncertain significance Multiple submitters
- DGKZ p.His654Arg Uncertain significance Multiple submitters
- DGKZ p.His829Tyr Uncertain significance Multiple submitters
- DGKZ p.Lys886Arg Uncertain significance Multiple submitters
- DGKZ p.Met494Thr Uncertain significance Multiple submitters
- DGKZ p.Pro67Leu Uncertain significance Multiple submitters
- DGKZ p.Ser568Leu Uncertain significance Multiple submitters
- DGKZ p.Ala336Thr Uncertain significance Single submitter
- DGKZ p.Ala429Gly Uncertain significance Single submitter
- DGKZ p.Ala614Thr Uncertain significance Single submitter
- DGKZ p.Ala658Gly Uncertain significance Single submitter
- DGKZ p.Ala689Gly Uncertain significance Single submitter
- DGKZ p.Ala743Thr Uncertain significance Single submitter
- DGKZ p.Ala787Gly Uncertain significance Single submitter
- DGKZ p.Ala787Thr Uncertain significance Single submitter
- DGKZ p.Ala798Thr Uncertain significance Single submitter
- DGKZ p.Ala830Thr Uncertain significance Single submitter
- DGKZ p.Ala853Val Uncertain significance Single submitter
- DGKZ p.Ala927Ser Uncertain significance Single submitter
- DGKZ p.Arg151Leu Uncertain significance Single submitter
- DGKZ p.Arg171Gln Uncertain significance Single submitter
- DGKZ p.Arg179Cys Uncertain significance Single submitter
- DGKZ p.Arg286Lys Uncertain significance Single submitter
- DGKZ p.Arg323Gln Uncertain significance Single submitter
- DGKZ p.Arg368His Uncertain significance Single submitter
- DGKZ p.Arg368Ser Uncertain significance Single submitter
- DGKZ p.Arg434Gln Uncertain significance Single submitter
- DGKZ p.Arg467Gln Uncertain significance Single submitter
- DGKZ p.Arg688Cys Uncertain significance Single submitter
- DGKZ p.Arg693Gly Uncertain significance Single submitter
- DGKZ p.Arg780Gln Uncertain significance Single submitter
- DGKZ p.Arg780Gly Uncertain significance Single submitter
- DGKZ p.Arg819Gln Uncertain significance Single submitter
- DGKZ p.Arg824His Uncertain significance Single submitter
- DGKZ p.Asn104Ser Uncertain significance Single submitter
- DGKZ p.Asn448Thr Uncertain significance Single submitter
- DGKZ p.Asp440Asn Uncertain significance Single submitter
- DGKZ p.Asp491Asn Uncertain significance Single submitter
- DGKZ p.Asp699Asn Uncertain significance Single submitter
- DGKZ p.Asp802Asn Uncertain significance Single submitter
- DGKZ p.Asp802Glu Uncertain significance Single submitter
- DGKZ p.Asp815Asn Uncertain significance Single submitter
- DGKZ p.Cys210Tyr Uncertain significance Single submitter
- DGKZ p.Gln224Arg Uncertain significance Single submitter
- DGKZ p.Gln518Arg Uncertain significance Single submitter
- DGKZ p.Gln82Arg Uncertain significance Single submitter
- DGKZ p.Gln870His Uncertain significance Single submitter
- DGKZ p.Glu166Lys Uncertain significance Single submitter
- DGKZ p.Glu399Lys Uncertain significance Single submitter
- DGKZ p.Glu468Gly Uncertain significance Single submitter
- DGKZ p.Glu697Ala Uncertain significance Single submitter
- DGKZ p.Glu821Gln Uncertain significance Single submitter
- DGKZ p.Glu821Lys Uncertain significance Single submitter
- DGKZ p.Gly190Glu Uncertain significance Single submitter
- DGKZ p.Gly309Asp Uncertain significance Single submitter
- DGKZ p.Gly557Ser Uncertain significance Single submitter
- DGKZ p.Gly702Glu Uncertain significance Single submitter
- DGKZ p.Gly756Arg Uncertain significance Single submitter
- DGKZ p.Gly858Ala Uncertain significance Single submitter
- DGKZ p.Gly881Arg Uncertain significance Single submitter
- DGKZ p.Ile142Met Uncertain significance Single submitter
- DGKZ p.Ile285Val Uncertain significance Single submitter
- DGKZ p.Leu349Pro Uncertain significance Single submitter
- DGKZ p.Leu809Val Uncertain significance Single submitter
- DGKZ p.Leu884Arg Uncertain significance Single submitter
- DGKZ p.Lys267Arg Uncertain significance Single submitter
- DGKZ p.Pro289Ala Uncertain significance Single submitter
-
DGKZ p.Pro371Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DGKZ p.Pro443His Uncertain significance Single submitter
- DGKZ p.Pro543Thr Uncertain significance Single submitter
- DGKZ p.Pro67Ser Uncertain significance Single submitter
- DGKZ p.Pro68Ser Uncertain significance Single submitter
- DGKZ p.Pro706Leu Uncertain significance Single submitter
- DGKZ p.Pro75Gln Uncertain significance Single submitter
- DGKZ p.Pro764Gln Uncertain significance Single submitter
- DGKZ p.Pro769Arg Uncertain significance Single submitter
- DGKZ p.Pro769Ser Uncertain significance Single submitter
- DGKZ p.Pro848Ala Uncertain significance Single submitter
- DGKZ p.Pro848Leu Uncertain significance Single submitter
- DGKZ p.Ser362Pro Uncertain significance Single submitter
- DGKZ p.Ser60Leu Uncertain significance Single submitter
- DGKZ p.Ser776Pro Uncertain significance Single submitter
- DGKZ p.Ser77Gly Uncertain significance Single submitter
- DGKZ p.Ser832Gly Uncertain significance Single submitter
- DGKZ p.Thr288Ile Uncertain significance Single submitter
- DGKZ p.Thr356Met Uncertain significance Single submitter
- DGKZ p.Thr537Ile Uncertain significance Single submitter
- DGKZ p.Thr591Ile Uncertain significance Single submitter
- DGKZ p.Thr772Ala Uncertain significance Single submitter
- DGKZ p.Thr778Met Uncertain significance Single submitter
- DGKZ p.Tyr396His Uncertain significance Single submitter
- DGKZ p.Tyr909His Uncertain significance Single submitter
- DGKZ p.Val678Ile Uncertain significance Single submitter
Predictors split 66
The independent predictors disagree with each other — read with care.
- DGKZ p.Ala658Asp Uncertain significance Multiple submitters
- DGKZ p.Arg185Gln Uncertain significance Multiple submitters
- DGKZ p.Arg368Cys Uncertain significance Multiple submitters
- DGKZ p.Arg610Cys Uncertain significance Multiple submitters
- DGKZ p.Arg760Trp Uncertain significance Multiple submitters
- DGKZ p.Arg81Trp Uncertain significance Multiple submitters
- DGKZ p.Arg84Trp Uncertain significance Multiple submitters
- DGKZ p.Arg921Gly Uncertain significance Multiple submitters
- DGKZ p.Glu143Lys Uncertain significance Multiple submitters
- DGKZ p.Lys134Glu Uncertain significance Multiple submitters
- DGKZ p.Pro639Leu Uncertain significance Multiple submitters
- DGKZ p.Pro789Arg Uncertain significance Multiple submitters
- DGKZ p.Thr139Arg Uncertain significance Multiple submitters
- DGKZ p.Val238Met Uncertain significance Multiple submitters
- DGKZ p.Ala423Pro Uncertain significance Single submitter
- DGKZ p.Ala438Thr Uncertain significance Single submitter
- DGKZ p.Ala720Asp Uncertain significance Single submitter
- DGKZ p.Ala720Val Uncertain significance Single submitter
- DGKZ p.Ala846Val Uncertain significance Single submitter
- DGKZ p.Arg151His Uncertain significance Single submitter
- DGKZ p.Arg341His Uncertain significance Single submitter
- DGKZ p.Arg441Gln Uncertain significance Single submitter
- DGKZ p.Arg585Cys Uncertain significance Single submitter
- DGKZ p.Arg585His Uncertain significance Single submitter
- DGKZ p.Arg612Leu Uncertain significance Single submitter
- DGKZ p.Arg627Gln Uncertain significance Single submitter
- DGKZ p.Arg627Trp Uncertain significance Single submitter
- DGKZ p.Arg645His Uncertain significance Single submitter
- DGKZ p.Arg650His Uncertain significance Single submitter
- DGKZ p.Arg731Gln Uncertain significance Single submitter
- DGKZ p.Arg819Gly Uncertain significance Single submitter
- DGKZ p.Arg81Leu Uncertain significance Single submitter
- DGKZ p.Arg81Pro Uncertain significance Single submitter
- DGKZ p.Arg84Gln Uncertain significance Single submitter
- DGKZ p.Asn426Ser Uncertain significance Single submitter
- DGKZ p.Asn475Lys Uncertain significance Single submitter
- DGKZ p.Asn737Ser Uncertain significance Single submitter
- DGKZ p.Asp108Glu Uncertain significance Single submitter
- DGKZ p.Asp655Asn Uncertain significance Single submitter
- DGKZ p.Asp751Glu Uncertain significance Single submitter
- DGKZ p.Asp888Gly Uncertain significance Single submitter
- DGKZ p.Gln623Glu Uncertain significance Single submitter
- DGKZ p.Gln638Glu Uncertain significance Single submitter
- DGKZ p.Glu664Gln Uncertain significance Single submitter
- DGKZ p.His422Asp Uncertain significance Single submitter
- DGKZ p.His546Tyr Uncertain significance Single submitter
- DGKZ p.His875Gln Uncertain significance Single submitter
- DGKZ p.Ile613Val Uncertain significance Single submitter
- DGKZ p.Ile83Met Uncertain significance Single submitter
- DGKZ p.Leu513Phe Uncertain significance Single submitter
- DGKZ p.Lys134Asn Uncertain significance Single submitter
- DGKZ p.Lys273Asn Uncertain significance Single submitter
- DGKZ p.Lys59Thr Uncertain significance Single submitter
- DGKZ p.Met293Leu Uncertain significance Single submitter
- DGKZ p.Met293Val Uncertain significance Single submitter
- DGKZ p.Phe447Leu Uncertain significance Single submitter
- DGKZ p.Pro291Leu Uncertain significance Single submitter
- DGKZ p.Pro632Ser Uncertain significance Single submitter
- DGKZ p.Pro672Leu Uncertain significance Single submitter
- DGKZ p.Pro752Ala Uncertain significance Single submitter
- DGKZ p.Ser231Leu Uncertain significance Single submitter
- DGKZ p.Ser85Asn Likely benign Single submitter
- DGKZ p.Thr740Pro Uncertain significance Single submitter
- DGKZ p.Thr86Ile Uncertain significance Single submitter
- DGKZ p.Trp280Cys Uncertain significance Single submitter
- DGKZ p.Val239Phe Uncertain significance Single submitter
All DGKZ variants
Pathogenic 1
- c.162-921dup Single submitter atypical cerebral palsy
Conflicting classifications of pathogenicity 5
- c.162-857C>T Single submitter
- p.Ala631Thr Single submitter ⚠
- p.Arg760Gln Single submitter ⚠
- p.Thr887Arg Single submitter atypical cerebral palsy
- p.Val588Leu Single submitter ⚠
Benign 32
- c.1596-5T>C Multiple submitters
- c.162-317G>A Multiple submitters
- c.162-621C>T Multiple submitters
- c.162-817G>A Multiple submitters
- c.162-830G>T Multiple submitters
- c.162-958T>C Multiple submitters
- c.162-973A>G Multiple submitters
- c.162-989C>G Multiple submitters
- c.1708-16C>A Multiple submitters
- c.442-12C>T Multiple submitters
- c.925-20T>C Multiple submitters
- p.Arg165= Multiple submitters
- p.Pro68Thr Multiple submitters
- p.Ser270= Multiple submitters
- p.Tyr484= Multiple submitters
- c.1182+22del Single submitter
- c.162-1006G>A Single submitter
- c.162-16_162-14del Single submitter
- c.162-642G>A Single submitter
- c.162-741C>G Single submitter
- c.1907+20G>A Single submitter
- c.2200-15G>T Single submitter
- c.2339+18G>A Single submitter
- c.2570+7_2570+10del Single submitter
- c.366+20C>T Single submitter
- c.498+12G>C Single submitter
- c.828+14T>C Single submitter
- c.924+9G>T Single submitter
- p.Ile742= Single submitter
- p.Leu62Phe Single submitter
- p.Ser60= Single submitter
- p.Thr71= Single submitter
Benign/Likely benign 3
- c.162-604C>T Multiple submitters
- c.162-910CCT[2] Multiple submitters
- c.162-921C>T Multiple submitters
Likely benign 184
- c.271-8G>T Multiple submitters
- c.639+15C>T Multiple submitters
- p.Ala350= Multiple submitters
- p.Asp820= Multiple submitters
- p.Gln920Arg Multiple submitters
- p.Met566Val Multiple submitters
- p.Thr567= Multiple submitters
- c.1008-4C>A Single submitter
- c.1068+11C>T Single submitter
- c.1068+12G>A Single submitter
- c.1068+14A>G Single submitter
- c.1069-10C>A Single submitter
- c.1069-18C>T Single submitter
- c.1069-5C>T Single submitter
- c.1182+17G>A Single submitter
- c.1182+19G>T Single submitter
- c.1183-10G>A Single submitter
- c.1323+13G>A Single submitter
- c.1324-10C>A Single submitter
- c.1402+10C>T Single submitter
- c.1403-13dup Single submitter
- c.1459-18G>A Single submitter
- c.1459-19C>T Single submitter
- c.1521+9G>A Single submitter
- c.1522-12G>A Single submitter
- c.1522-12G>C Single submitter
- c.1522-20C>T Single submitter
- c.1522-8G>A Single submitter
- c.1522-9C>T Single submitter
- c.1596-11C>T Single submitter
- c.1596-14G>A Single submitter
- c.162-309C>G Single submitter
- c.162-315C>T Single submitter
- c.162-327G>A Single submitter
- c.162-363C>T Single submitter
- c.162-466G>A Single submitter
- c.162-492C>T Single submitter
- c.162-504C>T Single submitter
- c.162-510C>T Single submitter
- c.162-519A>G Single submitter
- c.162-534C>G Single submitter
- c.162-558G>A Single submitter
- c.162-579G>A Single submitter
- c.162-591C>T Single submitter
- c.162-595G>A Single submitter
- c.162-642G>T Single submitter
- c.162-651C>T Single submitter
- c.162-741C>A Single submitter
- c.162-754C>T Single submitter
- c.162-760T>C Single submitter
- c.162-8_162-6del Single submitter
- c.162-810C>T Single submitter
- c.162-822C>T Single submitter
- c.162-843G>C Single submitter
- c.162-890C>T Single submitter
- c.162-924C>G Single submitter
- c.162-935C>T Single submitter
- c.162-981G>A Single submitter
- c.1707+12del Single submitter
- c.1907+10A>G Single submitter
- c.1907+11C>T Single submitter
- c.1907+19C>T Single submitter
- c.1908-16C>T Single submitter
- c.1908-5G>A Single submitter
- c.2008+16C>T Single submitter
- c.2008+8C>T Single submitter
- c.2008+9G>A Single submitter
- c.2089-19C>A Single submitter
- c.2158+18G>A Single submitter
- c.2159-11C>G Single submitter
- c.2199+17C>A Single submitter
- c.2200-19C>T Single submitter
- c.2200-20G>A Single submitter
- c.2200-5C>A Single submitter
- c.2200-5C>G Single submitter
- c.2340-18C>A Single submitter
- c.2371+8C>T Single submitter
- c.2415+13G>A Single submitter
- c.2416-8G>A Single submitter
- c.2536+14T>G Single submitter
- c.2536+20C>A Single submitter
- c.2536+20C>G Single submitter
- c.2536+7C>T Single submitter
- c.2536+8G>A Single submitter
- c.2537-12C>T Single submitter
- c.2571-10G>T Single submitter
- c.2671-10C>T Single submitter
- c.2671-6C>T Single submitter
- c.271-14del Single submitter
- c.271-4C>G Single submitter
- c.271-8G>A Single submitter
- c.271-9C>T Single submitter
- c.366+11G>A Single submitter
- c.366+12T>C Single submitter
- c.366+15G>T Single submitter
- c.441+18C>G Single submitter
- c.499-6C>G Single submitter
- c.567+17G>A Single submitter
- c.568-14C>T Single submitter
- c.568-6C>T Single submitter
- c.639+7G>T Single submitter
- c.640-11G>A Single submitter
- c.640-20C>T Single submitter
- c.756+13T>A Single submitter
- c.756+8C>G Single submitter
- c.756+8C>T Single submitter
- c.828+20G>A Single submitter
- c.829-15del Single submitter
- c.924+16C>T Single submitter
- c.924+20_924+21del Single submitter
- c.924+20del Single submitter
- c.924+8C>T Single submitter
- p.Ala29= Single submitter
- p.Ala535= Single submitter
- p.Ala630= Single submitter
- p.Ala630Thr Single submitter
- p.Arg247= Single submitter
- p.Arg279= Single submitter
- p.Arg585= Single submitter
- p.Asn801= Single submitter
- p.Asp181= Single submitter
- p.Asp456= Single submitter
- p.Asp5= Single submitter
- p.Asp555= Single submitter
- p.Asp751= Single submitter
- p.Cys207= Single submitter
- p.Cys351= Single submitter
- p.Gln415= Single submitter
- p.Gln822= Single submitter
- p.Gln902Arg Single submitter
- p.Glu424= Single submitter
- p.Glu465= Single submitter
- p.Glu899= Single submitter
- p.Gly331= Single submitter
- p.Gly352= Single submitter
- p.Gly454= Single submitter
- p.Gly575= Single submitter
- p.Gly578= Single submitter
- p.Gly601= Single submitter
- p.His344= Single submitter
- p.His422= Single submitter
- p.His577= Single submitter
- p.Ile142= Single submitter
- p.Ile226= Single submitter
- p.Ile313= Single submitter
- p.Ile377= Single submitter
- p.Ile57= Single submitter
- p.Ile83= Single submitter
- p.Leu346= Single submitter
- p.Leu364= Single submitter
- p.Leu405= Single submitter
- p.Leu520= Single submitter
- p.Leu589= Single submitter
- p.Leu633= Single submitter
- p.Leu826= Single submitter
- p.Lys153= Single submitter
- p.Lys498= Single submitter
- p.Phe478= Single submitter
- p.Pro229= Single submitter
- p.Pro241= Single submitter
- p.Pro371= Single submitter
- p.Pro372= Single submitter
- p.Pro596= Single submitter
- p.Pro632= Single submitter
- p.Pro639= Single submitter
- p.Pro672= Single submitter
- p.Pro68Ala Single submitter
- p.Pro706= Single submitter
- p.Pro752= Single submitter
- p.Pro764= Single submitter
- p.Pro766= Single submitter
- p.Pro847= Single submitter
- p.Ser106= Single submitter
- p.Ser155= Single submitter
- p.Ser231= Single submitter
- p.Ser758Ala Single submitter
- p.Ser85Asn Single submitter ⚠
- p.Thr460= Single submitter
- p.Thr591= Single submitter
- p.Thr825= Single submitter
- p.Tyr661= Single submitter
- p.Tyr909= Single submitter
- p.Val640= Single submitter
- p.Val854= Single submitter
Uncertain significance 317
Showing the top 300 by review status; the full set is in the sitemap.
- c.162-1007C>T Multiple submitters
- c.162-335G>A Multiple submitters
- c.162-350C>T Multiple submitters
- c.162-364G>A Multiple submitters
- c.162-461C>T Multiple submitters
- c.162-491G>A Multiple submitters
- c.162-517A>T Multiple submitters
- c.162-565G>A Multiple submitters
- c.162-587C>G Multiple submitters
- c.162-596C>T Multiple submitters
- c.162-614C>G Multiple submitters
- c.162-622C>G Multiple submitters
- c.162-667A>G Multiple submitters
- c.162-733C>G Multiple submitters
- c.162-815C>T Multiple submitters
- c.162-821C>T Multiple submitters
- c.162-875G>A Multiple submitters
- c.162-884C>T Multiple submitters
- c.162-889G>A Multiple submitters
- c.162-898T>C Multiple submitters
- c.162-908T>G Multiple submitters
- c.162-920G>A Multiple submitters
- c.162-931G>A Multiple submitters
- c.162-932C>A Multiple submitters
- c.162-932C>G Multiple submitters
- c.162-934G>A Multiple submitters
- c.162-970G>A Multiple submitters
- c.162-971C>T Multiple submitters
- p.Ala204Ser Multiple submitters ⚠
- p.Ala248Thr Multiple submitters ⚠
- p.Ala423Thr Multiple submitters ⚠
- p.Ala571Thr Multiple submitters ⚠
- p.Ala658Asp Multiple submitters ⚠
- p.Ala866Val Multiple submitters ⚠
- p.Ala882Thr Multiple submitters ⚠
- p.Arg178Gln Multiple submitters ⚠
- p.Arg185Gln Multiple submitters ⚠
- p.Arg247His Multiple submitters
- p.Arg368Cys Multiple submitters ⚠
- p.Arg505Gln Multiple submitters ⚠
- p.Arg610Cys Multiple submitters ⚠
- p.Arg760Trp Multiple submitters ⚠
- p.Arg780Trp Multiple submitters ⚠
- p.Arg81Trp Multiple submitters ⚠
- p.Arg824Cys Multiple submitters ⚠
- p.Arg824Ser Multiple submitters ⚠
- p.Arg840Cys Multiple submitters ⚠
- p.Arg84Trp Multiple submitters ⚠
- p.Arg921Gly Multiple submitters ⚠
- p.Asp181Glu Multiple submitters ⚠
- p.Asp719= Multiple submitters
- p.Cys861Ser Multiple submitters ⚠
- p.Glu143Lys Multiple submitters ⚠
- p.Glu78Asp Multiple submitters ⚠
- p.Glu849Lys Multiple submitters ⚠
- p.His654Arg Multiple submitters ⚠
- p.His829Tyr Multiple submitters ⚠
- p.Lys134Glu Multiple submitters ⚠
- p.Lys886Arg Multiple submitters ⚠
- p.Met494Thr Multiple submitters ⚠
- p.Pro639Leu Multiple submitters ⚠
- p.Pro67Leu Multiple submitters ⚠
- p.Pro789Arg Multiple submitters ⚠
- p.Ser568Leu Multiple submitters ⚠
- p.Thr139Arg Multiple submitters ⚠
- p.Val238Met Multiple submitters ⚠
- c.1008-3del Single submitter
- c.1069-3C>G Single submitter
- c.1183-3C>A Single submitter
- c.1595+6G>A Single submitter
- c.1596-4_1596-3delinsAA Single submitter
- c.162-1003G>A Single submitter
- c.162-1012A>G Single submitter
- c.162-1023_162-1020del Single submitter
- c.162-300A>G Single submitter
- c.162-307C>T Single submitter
- c.162-311C>T Single submitter
- c.162-314C>G Single submitter
- c.162-318C>A Single submitter
- c.162-320A>T Single submitter
- c.162-326G>T Single submitter
- c.162-340C>T Single submitter
- c.162-346G>A Single submitter
- c.162-347C>T Single submitter
- c.162-349G>A Single submitter
- c.162-356G>C Single submitter
- c.162-358T>C Single submitter
- c.162-361A>C Single submitter
- c.162-364G>C Single submitter
- c.162-365C>T Single submitter
- c.162-370G>A Single submitter
- c.162-383C>T Single submitter
- c.162-400T>C Single submitter
- c.162-409C>A Single submitter
- c.162-410G>A Single submitter
- c.162-421C>T Single submitter
- c.162-424C>T Single submitter
- c.162-431C>G Single submitter
- c.162-440C>A Single submitter
- c.162-449C>G Single submitter
- c.162-457C>T Single submitter
- c.162-463G>C Single submitter
- c.162-479C>G Single submitter
- c.162-482C>T Single submitter
- c.162-512C>G Single submitter
- c.162-517A>G Single submitter
- c.162-520T>A Single submitter
- c.162-525_162-524del Single submitter
- c.162-528G>A Single submitter
- c.162-553G>A Single submitter
- c.162-554_162-549dup Single submitter
- c.162-557C>T Single submitter
- c.162-566C>G Single submitter
- c.162-566C>T Single submitter
- c.162-583C>T Single submitter
- c.162-586A>G Single submitter
- c.162-620A>G Single submitter
- c.162-638G>A Single submitter
- c.162-653G>A Single submitter
- c.162-673G>T Single submitter
- c.162-674G>A Single submitter
- c.162-698C>T Single submitter
- c.162-713C>G Single submitter
- c.162-729G>C Single submitter
- c.162-751A>G Single submitter
- c.162-754_162-752del Single submitter
- c.162-763T>C Single submitter
- c.162-773G>A Single submitter
- c.162-787A>G Single submitter
- c.162-790G>A Single submitter
- c.162-799C>T Single submitter
- c.162-800C>T Single submitter
- c.162-814G>A Single submitter
- c.162-814G>T Single submitter
- c.162-826C>G Single submitter
- c.162-836G>C Single submitter
- c.162-845G>A Single submitter
- c.162-850G>A Single submitter
- c.162-889G>T Single submitter
- c.162-925C>A Single submitter
- c.162-928G>A Single submitter
- c.162-929C>T Single submitter
- c.162-931G>C Single submitter
- c.162-932C>T Single submitter
- c.162-955G>A Single submitter
- c.162-964G>A Single submitter
- c.162-977C>T Single submitter
- c.162-986G>A Single submitter
- c.162-998G>A Single submitter
- c.1907+4C>T Single submitter
- c.2570+13G>T Single submitter
- c.2570+6T>G Single submitter
- c.2571-3C>T Single submitter
- c.2671-3C>T Single submitter
- c.639+3G>A Single submitter
- c.829-3C>T Single submitter
- c.924+6C>T Single submitter
- p.Ala336Thr Single submitter ⚠
- p.Ala423Pro Single submitter ⚠
- p.Ala429Gly Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala614Thr Single submitter ⚠
- p.Ala658Gly Single submitter ⚠
- p.Ala689Gly Single submitter ⚠
- p.Ala720Asp Single submitter ⚠
- p.Ala720Val Single submitter ⚠
- p.Ala743Thr Single submitter ⚠
- p.Ala787Gly Single submitter ⚠
- p.Ala787Thr Single submitter ⚠
- p.Ala798Thr Single submitter ⚠
- p.Ala830Thr Single submitter ⚠
- p.Ala846Val Single submitter ⚠
- p.Ala853Val Single submitter ⚠
- p.Ala927Ser Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg151Leu Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg27Gln Single submitter
- p.Arg286Lys Single submitter ⚠
- p.Arg28Trp Single submitter
- p.Arg31Gln Single submitter
- p.Arg323Gln Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg368His Single submitter ⚠
- p.Arg368Ser Single submitter ⚠
- p.Arg434Gln Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg585Cys Single submitter ⚠
- p.Arg585His Single submitter ⚠
- p.Arg60Gly Single submitter
- p.Arg612Leu Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg627Trp Single submitter ⚠
- p.Arg645His Single submitter ⚠
- p.Arg650His Single submitter ⚠
- p.Arg688Cys Single submitter ⚠
- p.Arg693Gly Single submitter ⚠
- p.Arg71Gly Single submitter
- p.Arg731Gln Single submitter ⚠
- p.Arg780= Single submitter
- p.Arg780Gln Single submitter ⚠
- p.Arg780Gly Single submitter ⚠
- p.Arg819Gln Single submitter ⚠
- p.Arg819Gly Single submitter ⚠
- p.Arg81Leu Single submitter ⚠
- p.Arg81Pro Single submitter ⚠
- p.Arg824His Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Arg897Trp Single submitter
- p.Asn104Ser Single submitter ⚠
- p.Asn426Ser Single submitter ⚠
- p.Asn448Thr Single submitter ⚠
- p.Asn475Lys Single submitter ⚠
- p.Asn737Ser Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Asp440Asn Single submitter ⚠
- p.Asp491Asn Single submitter ⚠
- p.Asp655Asn Single submitter ⚠
- p.Asp655His Single submitter
- p.Asp699Asn Single submitter ⚠
- p.Asp751Glu Single submitter ⚠
- p.Asp802Asn Single submitter ⚠
- p.Asp802Glu Single submitter ⚠
- p.Asp815Asn Single submitter ⚠
- p.Asp888Gly Single submitter ⚠
- p.Cys210Tyr Single submitter ⚠
- p.Cys30Ser Single submitter
- p.Gln224Arg Single submitter ⚠
- p.Gln518Arg Single submitter ⚠
- p.Gln61Arg Single submitter
- p.Gln623Glu Single submitter ⚠
- p.Gln638Glu Single submitter ⚠
- p.Gln82Arg Single submitter ⚠
- p.Gln870His Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu34Lys Single submitter
- p.Glu34Val Single submitter
- p.Glu399Lys Single submitter ⚠
- p.Glu468Gly Single submitter ⚠
- p.Glu56Lys Single submitter
- p.Glu664Gln Single submitter ⚠
- p.Glu697Ala Single submitter ⚠
- p.Glu821Gln Single submitter ⚠
- p.Glu821Lys Single submitter ⚠
- p.Gly17Ser Single submitter
- p.Gly190Glu Single submitter ⚠
- p.Gly309Asp Single submitter ⚠
- p.Gly557Ser Single submitter ⚠
- p.Gly702Glu Single submitter ⚠
- p.Gly756Arg Single submitter ⚠
- p.Gly858Ala Single submitter ⚠
- p.Gly881Arg Single submitter ⚠
- p.His422Asp Single submitter ⚠
- p.His546Tyr Single submitter ⚠
- p.His660Arg Single submitter
- p.His875Gln Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile285Val Single submitter ⚠
- p.Ile613Val Single submitter ⚠
- p.Ile83Met Single submitter ⚠
- p.Leu320_Asn321del Single submitter
- p.Leu349Pro Single submitter ⚠
- p.Leu513Phe Single submitter ⚠
- p.Leu64Val Single submitter
- p.Leu809Val Single submitter ⚠
- p.Leu884Arg Single submitter ⚠
- p.Lys134Asn Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys273Asn Single submitter ⚠
- p.Lys59Thr Single submitter ⚠
- p.Met293Leu Single submitter ⚠
- p.Met293Val Single submitter ⚠
- p.Met885Val Single submitter
- p.Phe447Leu Single submitter ⚠
- p.Phe59Leu Single submitter
- p.Pro289Ala Single submitter ⚠
- p.Pro289Arg Single submitter
- p.Pro291Leu Single submitter ⚠
- p.Pro371Ser Single submitter Inborn genetic diseases ⚠
- p.Pro443His Single submitter ⚠
- p.Pro543Thr Single submitter ⚠
- p.Pro632Ser Single submitter ⚠
- p.Pro672Leu Single submitter ⚠
- p.Pro67Ser Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro706Leu Single submitter ⚠
- p.Pro752Ala Single submitter ⚠
- p.Pro75Gln Single submitter ⚠
- p.Pro764Gln Single submitter ⚠
- p.Pro769Arg Single submitter ⚠
- p.Pro769Ser Single submitter ⚠
- p.Pro848Ala Single submitter ⚠
- p.Pro848Leu Single submitter ⚠
- p.Ser231Leu Single submitter ⚠
- p.Ser362Pro Single submitter ⚠
- p.Ser60Leu Single submitter ⚠
- p.Ser776Pro Single submitter ⚠
- p.Ser77Gly Single submitter ⚠