Unique variants in gene GLA

Information The variants shown are described using the NM_000169.2 transcript reference sequence.

692 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-4854A>T likely benign r.(?) p.(=) g.100667745T>A - HNRNPH2(NM_001032393.2):c.769T>A (p.(Ser257Thr)) - HNRNPH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 - c.-4701G>A pathogenic r.(?) p.(=) g.100667592C>T - HNRNPH2(NM_019597.4):c.616C>T (p.R206W) - HNRNPH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.-4695T>C likely benign r.(?) p.(=) g.100667586A>G - HNRNPH2(NM_019597.4):c.610A>G (p.M204V) - HNRNPH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 _1 c.-573C>G - r.spl p.? g.100663464G>C g.101408476G>C - - GLA_000329 - PubMed: Wu 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-40G>C likely benign r.(?) p.(=) g.100662931C>G - GLA(NM_000169.2):c.-40G>C - HNRNPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., +/. 4 1 c.-30G>A benign r.(?), r.spl p.(=), p.? g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland PubMed: Saifudeen 1995 - rs3027584 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 4 - c.-12G>A benign r.(?) p.(=) g.100662903C>T - GLA(NM_000169.2):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.1):c.409-4021C>T - GLA_000702 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/., -?/. 4 - c.-10C>T benign, likely benign r.(?) p.(=) g.100662901G>A - GLA(NM_000169.2):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.1):c.409-4023G>A - GLA_000699 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.-8C>G likely benign r.(?) p.(=) g.100662899G>C - GLA(NM_000169.2):c.-8C>G - HNRNPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 34 ? c.? - r.(?) p.(K213N, p.(K240A, p.(L120P, p.(L166G, p.(L311F, p.(L394R, p.(L3R, p.(L89K, p.(M187I, p.(M267L, 24 more items g.? - - - GLA_000150, GLA_000151, GLA_000154, GLA_000158, GLA_000172, GLA_000175, GLA_000176, GLA_000181, 26 more items - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.1A>G - r.? p.0? g.100662891T>C g.101407903T>C M1V - GLA_000467 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.2T>A - r.? p.0? g.100662890A>T g.101407902A>T M1K - GLA_000491 - Dobrovolny 2008, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.2T>C - r.(?) p.0? g.100662890A>G g.101407902A>G M1T - GLA_000189 - PubMed: Eng 1997 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.2T>G - r.(?) p.0? g.100662890A>C g.101407902A>C M1R - GLA_000188 - PubMed: Shabbeer 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.3G>A - r.(?) p.0? g.100662889C>T g.101407901C>T M1I - GLA_000187 - PubMed: Blanch 1996 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.18delA - r.? p.(Glu7Asnfs*114) g.100662874delT g.101407886delT 18delA - GLA_000461 - PubMed: Shabbeer 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.19G>T - r.? p.(Glu7*) g.100662873C>A g.101407885C>A - - GLA_000466 - Dobrovolny 2008, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.26delA - r.? p.(His9Leufs*112) g.100662866delT g.101407878delT 26delA - GLA_000480 - PubMed: Eng 1994 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.31G>C VUS r.(?) p.(Gly11Arg) g.100662861C>G - GLA(NM_000169.2):c.31G>C - HNRNPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.32delG - r.? p.(Gly11Alafs*110) g.100662860delC g.101407872delC 32delG - GLA_000499 - PubMed: Ashton-Prolla 1999 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.33delC - r.? p.(Cys12Alafs*109) g.100662859delG g.101407871delG 33delC - GLA_000501 - PubMed: Batista 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.34_42del - r.? p.(Cys12_Leu14del) g.100662850_100662858del g.101407862_101407870del 34_42delTGCGCGCTT - GLA_000502 - Chien 2009, HGOL - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.35_47del - r.? p.(Cys12Phefs*105) g.100662845_100662857del g.101407857_101407869del 35_47delGCGCGCTTGCGCT - GLA_000503 - PubMed: Topaloglu 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.38C>G - r.(?) p.(Ala13Gly) g.100662854G>C g.101407866G>C A13G - GLA_000012 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.41T>C - r.(?) p.(Leu14Pro) g.100662851A>G g.101407863A>G - - GLA_000157 - PubMed: Tse 2003 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.44C>G - r.(?) p.(Ala15Gly) g.100662848G>C g.101407860G>C - - GLA_000017 - PubMed: Koskenvuo 2009 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.47T>C - r.(?) p.(Leu16Pro) g.100662845A>G g.101407857A>G - - GLA_000161 - PubMed: Garzuly 2005 - - Germline - - - - - LOVD-team, but with Curator vacancy
-?/. 2 - c.48T>G likely benign r.(?) p.(=) g.100662844A>C - GLA(NM_000169.2):c.48T>G (p.L16=) - GLA_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/. 2 1 c.53T>C pathogenic r.(?) p.(Phe18Ser) g.100662839A>G g.101407851A>G GLA(NM_000169.2):c.53T>C (p.F18S) - GLA_000096 VKGL data sharing initiative Nederland PubMed: Auray-Blais 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, LOVD-team, but with Curator vacancy
+/. 1 4 c.56T>C - r.(?) p.(Leu19Pro) g.100662836A>G g.101407848A>G - - GLA_000164 - PubMed: Teraguchi 2004 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.58G>C - r.(?) p.(Ala20Pro) g.100662834C>G g.101407846C>G - - GLA_000018 - PubMed: Nakao 1995 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.59_73del - r.? p.(Ala20_Trp24del) g.100662819_100662833del g.101407831_101407845del 59_73delCCCTCGTTTCCTGGG - GLA_000547 - PubMed: Germain 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.70T>G - r.(?) p.(Trp24Gly) g.100662822A>C g.101407834A>C - - GLA_000310 - PubMed: Kleinert 2009 - - Germline - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.79C>T likely benign r.(?) p.(Pro27Ser) g.100662813G>A - GLA(NM_000169.2):c.79C>T (p.(Pro27Ser)) - HNRNPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.85dupG - r.? p.(Ala29Glyfs*2) g.100662807dupC g.101407819dupC 85dupG - GLA_000618 - PubMed: Ashley 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.92C>T - r.(?) p.(Ala31Val) g.100662800G>A g.101407812G>A - - GLA_000027 - PubMed: Eng 1997 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.95T>C - r.(?) p.(Leu32Pro) g.100662797A>G g.101407809A>G - - GLA_000173 - PubMed: Madsen 1995 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 1 c.100A>G - r.(?) p.(Asn34Asp) g.100662792T>C g.101407804T>C - - GLA_000672 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 ? c.101A>G - r.(?) p.(Asn34Ser) g.100662791T>C g.101407803T>C - - GLA_000223 - PubMed: Eng 1993 - rs28935192 Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.102T>G - r.(?) p.(Asn34Lys) g.100662790A>C g.101407802A>C - - GLA_000222 - PubMed: Shabbeer 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.103G>A - r.(?) p.(Gly35Arg) g.100662789C>T g.101407801C>T - - GLA_000126 - PubMed: Davies 1994 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.107T>C - r.(?) p.(Leu36Ser) g.100662785A>G g.101407797A>G - - GLA_000174 - PubMed: Erdos 2008 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.108G>T - r.? p.(Leu36Phe) g.100662784C>A g.101407796C>A - - GLA_000384 - PubMed: Pereira 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.109G>A - r.(?) p.(Ala37Thr) g.100662783C>T g.101407795C>T - - GLA_000028 - PubMed: Sadick 2007 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.110C>T - r.? p.(Ala37Val) g.100662782G>A g.101407794G>A - - GLA_000391 - PubMed: Nakamura 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.118C>G - r.(?) p.(Pro40Ala) g.100662774G>C g.101407786G>C - - GLA_000237 - PubMed: Koskenvuo 2009 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.118C>T - r.(?) p.(Pro40Ser) g.100662774G>A g.101407786G>A - - GLA_000239 - PubMed: Koide 1990 - - Germline - - - - - LOVD-team, but with Curator vacancy
?/. 1 ? c.119C>A - r.? p.(Pro40His) g.100662773G>T g.101407785G>T - - GLA_000424 - PubMed: Meng 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.119C>T - r.(?) p.(Pro40Leu) g.100662773G>A g.101407785G>A - - GLA_000238 - PubMed: Ashton-Prolla 2000 - - Germline - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.120T>C likely benign r.(?) p.(=) g.100662772A>G - GLA(NM_000169.2):c.120T>C - HNRNPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 ? c.122C>T - r.(?) p.(Thr41Ile) g.100662770G>A g.101407782G>A - - GLA_000296 - PubMed: Shabbeer 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
-/., -?/. 2 - c.123C>T benign, likely benign r.(?) p.(=) g.100662769G>A - GLA(NM_000169.2):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.1):c.409-4155G>A - GLA_000697 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
+/. 1 ? c.123delC - r.? p.(Met42Trpfs*79) g.100662769delG g.101407781delG 123delC - GLA_000439 - PubMed: Burlina 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.123_126dup - r.? p.(Gly43Hisfs*14) g.100662766_100662769dup g.101407778_101407781dup 123_126dupCATG - GLA_000436 - PubMed: Morrone 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.124A>C - r.(?) p.(Met42Leu) g.100662768T>G g.101407780T>G - - GLA_000197 - PubMed: Rosenthal 2004 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.124A>G - r.(?) p.(Met42Val) g.100662768T>C g.101407780T>C - - GLA_000199 - PubMed: Davies 1996 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.124_125del - r.? p.(Met42Glyfs*13) g.100662767_100662768del g.101407779_101407780del 124_125delAT - GLA_000440 - PubMed: Ashley 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.125T>C - r.(?) p.(Met42Thr) g.100662767A>G g.101407779A>G - - GLA_000198 - PubMed: Shabbeer 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.125T>G - r.? p.(Met42Arg) g.100662767A>C g.101407779A>C - - GLA_000443 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.125_137del - r.? p.(Met42Thrfs*75) g.100662755_100662767del g.101407767_101407779del 125_137delTGGGCTGGCTGCA - GLA_000442 - PubMed: Ishii 1991 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.127G>A - r.? p.(Gly43Ser) g.100662765C>T g.101407777C>T - - GLA_000445 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.127G>C - r.(?) p.(Gly43Arg) g.100662765C>G g.101407777C>G - - GLA_000129 - PubMed: Germain 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.128G>A - r.(?) p.(Gly43Asp) g.100662764C>T g.101407776C>T - - GLA_000127 - Iga 2001, HGOL - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.128G>T - r.(?) p.(Gly43Val) g.100662764C>A g.101407776C>A - - GLA_000130 - PubMed: Shabbeer 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
-/., -?/. 3 - c.129C>T benign, likely benign r.(?) p.(=) g.100662763G>A - GLA(NM_000169.2):c.129C>T (p.G43=) - GLA_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 ? c.131G>A - r.? p.(Trp44*) g.100662761C>T g.101407773C>T - - GLA_000447 - PubMed: Sakuraba 1990 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.132G>T - r.(?) p.(Trp44Cys) g.100662760C>A g.101407772C>A - - GLA_000315 - PubMed: Wang 2005 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.134_138delinsGCTCG - r.? p.(Leu45_His46delinsArgSer) g.100662754_100662758delinsCGAGC g.101407766_101407770delinsCGAGC 134_138delTGCACinsGCTCG - GLA_000448 - PubMed: Eng 1997 - - Germline - - - - - Johan den Dunnen
+/. 2 ? c.136C>T pathogenic r.(?) p.(His46Tyr) g.100662756G>A g.101407768G>A GLA(NM_000169.2):c.136C>T - GLA_000137 VKGL data sharing initiative Nederland PubMed: Blaydon 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, LOVD-team, but with Curator vacancy
+/. 1 ? c.137A>C - r.? p.(His46Pro) g.100662755T>G g.101407767T>G - - GLA_000449 - PubMed: Hwu 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.137A>G - r.(?) p.(His46Arg) g.100662755T>C g.101407767T>C - - GLA_000135 - PubMed: Eng 1997 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.139T>G - r.(?) p.(Trp47Gly) g.100662753A>C g.101407765A>C - - GLA_000316 - PubMed: Blaydon 2001 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.140G>A - r.? p.(Trp47*) g.100662752C>T g.101407764C>T - - GLA_000450 - PubMed: Batista 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.140G>T - r.(?) p.(Trp47Leu) g.100662752C>A g.101407764C>A - - GLA_000317 - Cooper 2000, HGOL - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.141G>A - r.? p.(Trp47*) g.100662751C>T g.101407763C>T - - GLA_000451 - PubMed: Lee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.142G>A - r.(?) p.(Glu48Lys) g.100662750C>T g.101407762C>T - - GLA_000087 - PubMed: Rodriguez-Mari 2003 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.144G>T - r.? p.(Glu48Asp) g.100662748C>A g.101407760C>A - - GLA_000452 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.145C>A - r.(?) p.(Arg49Ser) g.100662747G>T g.101407759G>T - - GLA_000273 - PubMed: Davies 1996 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 2 1, ? c.145C>G - r.(?) p.(Arg49Gly) g.100662747G>C g.101407759G>C - - GLA_000270 - PubMed: Germain 2002 - - Germline - - - - - Paula Rozenfeld, LOVD-team, but with Curator vacancy
+/. 1 ? c.145C>T - r.(?) p.(Arg49Cys) g.100662747G>A g.101407759G>A - - GLA_000269 - PubMed: Shin 2008 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.146G>C - r.(?) p.(Arg49Pro) g.100662746C>G g.101407758C>G - - GLA_000272 - PubMed: Blaydon 2001 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.146G>T - r.(?) p.(Arg49Leu) g.100662746C>A g.101407758C>A - - GLA_000271 - PubMed: Davies 1994 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.149T>G - r.(?) p.(Phe50Cys) g.100662743A>C g.101407755A>C - - GLA_000102 - PubMed: Shabbeer 2002 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.152T>A - r.(?) p.(Met51Lys) g.100662740A>T g.101407752A>T - - GLA_000201 - PubMed: Ashley 2001 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.153G>A - r.(?) p.(Met51Ile) g.100662739C>T g.101407751C>T - - GLA_000200 - PubMed: Spada 2006 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.154delT - r.? p.(Cys52Alafs*69) g.100662738delA g.101407750delA 154delT - GLA_000453 - PubMed: Blaydon 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.154T>C - r.(?) p.(Cys52Arg) g.100662738A>G g.101407750A>G - - GLA_000045 - PubMed: Blanch 1996 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.155G>A - r.? p.(Cys52Tyr) g.100662737C>T g.101407749C>T - - GLA_000454 - PubMed: Filoni 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.155G>C - r.(?) p.(Cys52Ser) g.100662737C>G g.101407749C>G - - GLA_000046 - PubMed: Eng 1994 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.156C>A - r.? p.(Cys52*) g.100662736G>T g.101407748G>T - - GLA_000455 - PubMed: Topaloglu 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.159C>G - r.(?) p.(Asn53Lys) g.100662733G>C g.101407745G>C - - GLA_000652 - - - - Germline - - - - - Amelia Morrone
+/. 1 1 c.160C>T - r.(?) p.(Leu54Phe) g.100662732G>A g.101407744G>A - - GLA_000671 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 ? c.161T>C - r.(?) p.(Leu54Pro) g.100662731A>G g.101407743A>G - - GLA_000179 - PubMed: Auray-Blais 2008 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.162delT - r.? p.(Asp55Thrfs*66) g.100662730delA g.101407742delA 162delT - GLA_000456 - PubMed: Schafer 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.164A>G - r.(?) p.(Asp55Gly) g.100662728T>C g.101407740T>C - - GLA_000670 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 1 c.164A>T - r.(?) p.(Asp55Val) g.100662728T>A g.101407740T>A D55V - GLA_000077 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.164_170delinsTCTGCCT - r.? p.(Asp55_Gln57delinsValCysLeu) g.100662722_100662728delinsAGGCAGA g.101407734_101407740delinsAGGCAGA 164_170delACTGCCAinsTCTGCCT - GLA_000457 - PubMed: Benjamin 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.166T>G - r.(?) p.(Cys56Gly) g.100662726A>C g.101407738A>C - - GLA_000048 - PubMed: Eng 1993 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.167G>A - r.(?) p.(Cys56Tyr) g.100662725C>T g.101407737C>T - - GLA_000049 - PubMed: Davies 1996 - - Germline - - - - - LOVD-team, but with Curator vacancy
+/. 1 ? c.167G>T - r.(?) p.(Cys56Phe) g.100662725C>A g.101407737C>A - - GLA_000047 - PubMed: Eng 1994 - - Germline - - - - - LOVD-team, but with Curator vacancy
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