Unique variants in gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

243 entries on 3 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 1i c.?inv - r.? p.? g.? - - - IDS_000095 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.(?_-217)_(103+1_104-1)del) - r.0? p.0? g.(148585824_148586564)_(148586884_?)del - exon 1 deletion - IDS_000169 exon 1 deletion, breakpoint not sequenced PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 11 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?, p.0 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 inversion IDS-intron7 / IDS2 exon3; present in 13% patients, recombination IDS/IDS2 gene, 1 more item PubMed: Bondeson 1995, PubMed: Isogai 1998, PubMed: Moreira da Silva 2001, PubMed: Alves 2006 - - Germline, De novo - - - - - Johan den Dunnen, Yu Sun
+/. 3 _1_7i c.(?_-217)_(1006+1_1107-1)inv - r.? p.? g.(148568630_148571844)_(148586884_?)inv - IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated., IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI - - Miguel Angel Alcántara-Ortigoza
+/. 1 _1_9_ c.(?_-217)_(*3982_?)del - r.0 p.0 g.(147300000_147392284)_(149225394_149300000)del - - arrXq28(147,392,284-149,225,394)x0 IDS_000170 1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - De novo - - - - - Miguel Angel Alcántara-Ortigoza
+/. 2 1_6i c.(?_-199)_(879+1_880-1)del - r.0 p.0 g.? - del ex1-6 - IDS_000010 deletion extends 200 kb upstream PubMed: Vafiadaki 1998, PubMed: Birot 1996 - - Germline - - - - - Johan den Dunnen
+/. 15 _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0 g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296 and DXS304 present, complete gene deletion, IDS2 present, 11 more items PubMed: Bunge, PubMed: Beck, OMIM:var0007, {PMID:Wilson 1991}, PubMed: Froissart, PubMed: Alves 2006, 4 more items - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 3 _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0 g.(148400000_148467083)_(148624248_148700000)del, g.(148000000_148176414)_(148738845_149000000)del, 1 more item - - arr Xq28(148,467,083-148,624,248)x0 mat, arr Xq28(148,176,414-148,738,845)x0 mat, 1 more item IDS_000188, IDS_000189 157 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved, 2 more items PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline, De novo - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 7i_8i c.(1007-10_1180+10)? - r.1007_1180del p.(Trp337_Gly394del) g.(148568446_148568639)? - RNA exon 8 skip - IDS_000000 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 8 c.(1007-2_1007-1)? - r.1007_1018del p.Trp337_Gly340del g.(148568630_148568631)? - 1131_1142del - IDS_000183 - PubMed: Filocamo 2001 - - Germline - - BanII- - - Johan den Dunnen
+/. 1 3 c.(285_288)[del3] pathogenic r.(?) p.(Arg96del) g.(148584972_148584975)[del3] - - - IDS_000030 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3i_7i c.240+12_(1006+1_1007-1)delins(?) - r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del] g.? - - - IDS_000000 1 more item PubMed: Birot 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_?del - r.del p.del g.? - - - IDS_000069 RNA contains ex1-3, no downstream amplification PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.19G>C likely benign r.(?) p.(Gly7Arg) g.148586649C>G - IDS(NM_000202.7):c.19G>C (p.G7R) - IDS_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.21_22insG - r.? p.Arg8fs g.148586646_148586647insC - - - IDS_000141 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 3 1 c.22C>T - r.(?), r.22c>u, r.? p.(Arg8*), p.Arg8* g.148586646G>A - - - IDS_000019 - {PMID:Vafiadaki 1998}, PubMed: Filocamo 2001, PubMed: Vafiadaki 1998 - - Germline - - -EagI - - Johan den Dunnen
+/. 1 1 c.22_37del - r.(?) p.(Arg8Trpfs*5) g.148586631_148586646del - 22_37del16pb - IDS_000214 - - - - Germline - - - - - Paula Rozenfeld
-?/. 1 - c.23G>T likely benign r.(?) p.(Arg8Leu) g.148586645C>A - IDS(NM_000202.7):c.23G>T (p.R8L) - IDS_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.35G>A - r.35g>a p.Trp12* g.148586633C>T - - - IDS_000057 - PubMed: Filocamo 2001 - - Germline - - MaeI+ - - Johan den Dunnen
+/. 1 1 c.71dupT - r.? p.(Gly25Argfs*22) g.148586597dupA - 70_71insT - IDS_000124 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.71_90del - r.? p.Ala23fs g.148586578_148586597del - 69_88del - IDS_000136 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.103+2T>A - r.spl? p.? g.148586563A>T - IVS1+2T>A - IDS_000072 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 3 1i c.104-2A>G - r.[103_104ins104-216_104-1;104-2a>g, 104_212del], r.spl?, 1 more item p.fs*, p.? g.148585825T>C - IVS1-2A>G - IDS_000023 RNA level 0.7 of normal PubMed: Moreira da Silva 2001, PubMed: Vafiadaki 1998, PubMed: Alves 2006 - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 1 1i c.104-1G>A - r.(104_240del) p.(Asp35Alafs*18) g.148585824C>T - - - IDS_000184 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 1i c.104-?_507+?del - r.104_507del p.? g.148582480_148585823del - g.376_5725del, del ex2-4 - IDS_000035 - {PMID:Bonuccelli 1998} - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.104A>G likely benign r.(?) p.(Asp35Gly) g.148585823T>C - IDS(NM_000202.7):c.104A>G (p.D35G) - IDS_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.121_123del - r.? p.Leu41del g.148585804_148585806del - - - IDS_000142 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.133G>A - r.? p.(Asp45Asn) g.148585794C>T - - - IDS_000132 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.133G>C - r.(?) p.(Asp45His) g.148585794C>G - - - IDS_000158 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - MwoI - - Miguel Angel Alcántara-Ortigoza
+/. 1 2 c.143G>C - r.143g>c p.Arg48Pro g.148585784C>G - - - IDS_000045 - PubMed: Sukegawa 1995 - - Germline - - HhaI- - - Johan den Dunnen
+/. 1 2 c.181T>C - r.(?) p.(Ser61Pro) g.148585746A>G - - - IDS_000213 - - - - Germline - - - - - Paula Rozenfeld
+/. 2 2 c.187A>G - r.(?), r.? p.(Asn63Asp), p.Asn63Asp g.148585740T>C - - - IDS_000102 - PubMed: Rathmann 1996 - - Germline - - - - - Paula Rozenfeld, Johan den Dunnen
+/. 1 2 c.212G>A - r.(?) p.(Ser71Asn) g.148585715C>T - - - IDS_000212 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 2 c.223C>T - r.(?) p.(Gln75*) g.148585704G>A - - - IDS_000159 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
?/. 1 - c.236C>G VUS r.(?) p.(Ala79Gly) g.148585691G>C - IDS(NM_000202.5):c.236C>G (p.(Ala79Gly)) - IDS_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 2 c.238C>T - r.238c>u, r.? p.Gln80*, p.(Gln80*) g.148585689G>A - - - IDS_000048 - {PMID:Carrozzo 1996}, PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.240+1G>A - r.? p.? g.148585686C>T - IVS2+1G>A - IDS_000083 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.240+1G>T - r.104_240del p.Asp35Alsfs*18 g.148585686C>A - - - IDS_000034 - PubMed: Isogai 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 3i_7i c.240+76_1007-1089delins[KT724868:g.261_2375] - r.(?) p.(Gln81Glyfs*4) g.148569718_148585611delins148606691_148608805 - NG_011900.3:g.6129_22625delinsAC244197.3:g.45710_48426 - IDS_000171 chimeric IDS-IDSP1 allele replacing IDS exons 4 to 7 with a partial IDSP1 insertion (KT724868) PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016, GenBank KT724868 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 2i c.241-10T>G - r.[241_284del, =] p.[Gln81Glufs*3, =] g.148585029A>C - IVS2-10T>G - IDS_000025 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.241-5A>T - r.241_418del p.Gln81Glyfs*73 g.148585024T>A - - - IDS_000186 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 2i c.241-2A>G - r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] g.148585021T>C - - - IDS_000148 RNA level 1.1 of normal PubMed: Alves 2006 - - Germline - - - - - Yu Sun
+/. 1 2i c.241-1G>A - r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] g.148585020C>T - - - IDS_000149 RNA level 0.8 of normal PubMed: Alves 2006 - - Germline - - - - - Yu Sun
+/. 2 3 c.252C>A - r.? p.(Cys84*) g.148585008G>T - - - IDS_000133 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 5 3 c.253G>A - r.(?), r.253g>a p.(Ala85Thr), p.Ala85Thr g.148585007C>T - - - IDS_000049 - PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Isogai 1998, 1 more item - - Germline - - HhaI-, HhaI - - Paula Rozenfeld, Johan den Dunnen, Miguel Angel Alcántara-Ortigoza
+/. 1 3 c.253G>T - r.? p.(Ala85Ser) g.148585007C>A - - - IDS_000007 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.257C>A - r.? p.Pro86Gln g.148585003G>T - - - IDS_000099 - PubMed: Rathmann 1996 - - De novo - - - - - Johan den Dunnen
+/. 7 3 c.257C>T pathogenic r.(?), r.[257c>u, 241_284del], r.257c>u, r.? p.(Pro86Leu), p.[Pro86Leu, Gln81Glufs*3], p.Pro86Leu g.148585003G>A - IDS(NM_000202.7):c.257C>T (p.P86L) - IDS_000026 VKGL data sharing initiative Nederland, RNA level 0.7 of normal PubMed: Isogai 1998, PubMed: Popowska 1995, PubMed: Vafiadaki 1998, PubMed: Alves 2006 - - CLASSIFICATION record, Germline - - DdaI+, AvaI- - - VKGL-NL, Johan den Dunnen, Yu Sun
+/. 2 3 c.260G>A - r.260g>a, r.(?) p.Ser87Asn, p.(Ser87Asn) g.148585000C>T - - - IDS_000050, IDS_000150 - PubMed: Popowska 1995 - - Germline - - AvaI- - - Johan den Dunnen, Janell Kierstein
+/. 6 2, 3 c.262C>T - r.(?) p.Arg88Cys, p.(Arg88Cys) g.148584998G>A - 386C>T - IDS_000018 RNA level 1.5 of normal PubMed: Alves 2006, PubMed: Rathmann 1996, PubMed: Moreira da Silva 2001, 1 more item - - Germline, De novo - - AluI+ - - Yu Sun, Johan den Dunnen, Miguel Angel Alcántara-Ortigoza
?/., +/. 9 3 c.263G>A - r.(?), r.?, r.263g>a p.(Arg88His), p.Arg88His g.148584997C>T - R88H - IDS_000002 unique variant PubMed: Tarpey 2009, PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Filocamo 2001, - - Lucy Raymond, Johan den Dunnen
+/. 1 3 c.263G>C - r.263g>c p.Arg88Pro g.148584997C>G - - - IDS_000051 - PubMed: Balzano 1998 - - Germline - - - - - Johan den Dunnen
?/., -?/. 2 - c.265G>A VUS, likely benign r.(?) p.(Val89Ile) g.148584995C>T - IDS(NM_000202.5):c.265G>A (p.(Val89Ile)), IDS(NM_000202.7):c.265G>A (p.V89I) - IDS_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 3 c.265G>T - r.? p.(Val89Phe) g.148584995C>A - - - IDS_000008 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.275T>C - r.275u>c p.Leu92Pro g.148584985A>G - - - IDS_000052 - PubMed: Popowska 1995 - - Germline - - MnlI- - - Johan den Dunnen
+/. 1 3 c.284G>C - r.284g>c p.Arg95Thr g.148584976C>G - 408G>C - IDS_000053 - PubMed: Moreira da Silva 2001 - - Germline - - BssSI+ - - Johan den Dunnen
+/. 1 3 c.288delA - r.288del p.Arg96Serfs*34 g.148584972delT - 412delA - IDS_000054 - PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.301C>T VUS r.(?) p.(Arg101Cys) g.148584959G>A - IDS(NM_000202.7):c.301C>T (p.R101C) - IDS_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.308C>G - r.[309c>g, 241_418del] p.[Tyr103*, Gln81Glyfs*73] g.148584952G>C - 433C>G, g2772C>G - IDS_000027 - PubMed: Bonuccelli 2000 - - Germline - - RsaI- - - Johan den Dunnen
+/. 1 3 c.323A>G - r.? p.Tyr108Cys g.148584937T>C - TAC-TGC - IDS_000090 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.343A>T - r.? p.(Asn115Tyr) g.148584917T>A - - - IDS_000128 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 5 3, 4 c.349_351del - r.349_351del, r.? p.Ser117del, p.(Ser117del) g.148584909_148584911del - 472delTCC - IDS_000055 - PubMed: Sukegawa 1995, PubMed: Rathmann 1996, PubMed: Filocamo 2001, PubMed: Froisart 2007 - - Germline - - +HphI - - Johan den Dunnen
+/. 1 3 c.353C>A - r.? p.Ser117Tyr g.148584907G>T - - - IDS_000143 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.353C>T - r.(?), r.353c>u p.(Thr118Ile), p.Thr118Ile g.148584907G>A - - - IDS_000056 - PubMed: Froisart 2007, PubMed: Balzano 1998 - - Germline - - Sau3A+ - - Johan den Dunnen
+/. 1 3 c.359C>A - r.(?) p.(Pro120His) g.148584901G>T - - - IDS_000211 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 3 c.374A>T - r.? p.Glu125Val g.148584886T>A - - - IDS_000096 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.400G>C - r.? p.Gly134Arg g.148584860C>G - - - IDS_000098 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.401G>A - r.(?) p.(Gly134Glu) g.148584859C>T - - - IDS_000210 - - - - Germline - - - - - Paula Rozenfeld
+/., ?/. 2 3 c.404A>G - r.? p.(Lys135Arg) g.148584856T>C - - - IDS_000006 - PubMed: Bunge, OMIM:var0009, {dbSNP28937311} - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 1 3 c.405A>T - r.405a>u p.Lys135Asn g.148584855T>A - - - IDS_000058 - PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.410T>C pathogenic r.(?) p.(Phe137Ser) g.148584850A>G - IDS(NM_000202.7):c.410T>C (p.F137S) - IDS_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 3 c.410_411del - r.410_411del p.Thr138Serfs*6 g.148584849_148584850del - 533delTT - IDS_000059 - PubMed: Filocamo 2001 - - Germline - - +Alw26I - - Johan den Dunnen
+/. 1 3 c.411del - r.(?) p.(His138Thrfs*75) g.148584849del - 411delT - IDS_000209 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 3i c.418+1G>A - 1 more item p.? g.148584841C>T - - - IDS_000150 RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls PubMed: Alves 2006 - - Germline - - - - - Yu Sun
-/. 2 - c.418+12T>C benign r.(=) p.(=) g.148584830A>G - IDS(NM_000202.7):c.418+12T>C - IDS_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 2 3i c.419-132dup - r.(?) p.(=) g.148582700dup - 419-132_419-131insC - IDS_000175 - - - - Germline - - - - - Yu Sun
-?/., -/. 2 - c.419-6del likely benign, benign r.(=) p.(=) g.148582584del - IDS(NM_000202.7):c.419-6delT - IDS_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.419-6dup benign r.(=) p.(=) g.148582584dup - IDS(NM_000202.7):c.419-6_419-5insT - IDS_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 3i c.419-1G>A - r.spl p.? g.148582569C>T - - - IDS_000178 - - - - Germline ? - - - - Isabella Rau
+/. 1 3i c.419-?_505+?del - r.419_505del p.? g.148582482_148582568del - del ex4 - IDS_000060 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_507+?del - r.del p.? g.148582480_148582568del - del ex4 - IDS_000070 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_1006+?del - r.419_1006del p.? g.148571845_148582568del - del ex4-7 - IDS_000015 IDS-IDS2 rearrangement PubMed: Filocamo 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.425C>A - r.(?) p.(Ser142Tyr) g.148582562G>T - - - IDS_000208 - - - - Germline - - - - - Paula Rozenfeld
-/., ?/., -?/., +?/., +/. 16 4 c.438C>T benign r.(?), r.438c>u, r.? p.(=), p.= g.148582549G>A - IDS(NM_000202.7):c.438C>T (p.T146=), T146T, 562C>T - IDS_000003 VKGL data sharing initiative Nederland, recurrent variant PubMed: Tarpey 2009, PubMed: Flomen 1992, PubMed: Bunge, OMIM:var0009, PubMed: Filocamo 2001, 1 more item - - CLASSIFICATION record, Germline, Not applicable - 62/208, 0.00-0.70 -MspI - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Lucy Raymond, Johan den Dunnen
+/. 2 4 c.442G>A - r.? p.(Asp148Asn) g.148582545C>T - GAT>AAT (D148N) - IDS_000078 RNA level 1.3 of normal PubMed: Froisart 2007, PubMed: Alves 2006 - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 1 4 c.453T>G - r.? p.Tyr151* g.148582534A>C - - - IDS_000104 - PubMed: Isogai 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.454_460del - r.? p.Ser152Leufs*59 g.148582527_148582533del - 454del7 - IDS_000110 - PubMed: Isogai 1998 - - Germline - - AluI- - - Johan den Dunnen
+/. 1 4 c.455G>T - r.(?) p.(Ser152Ile) g.148582532C>A - - - IDS_000207 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4 c.458G>T - r.? p.(Trp153Leu) g.148582529C>A - TGG>TTG (W153L) - IDS_000079 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.463_464delinsCCGTATAGCTGG - r.(?) p.(Phe155Profs*12) g.148582523_148582524delinsCCAGCTATACGG - - - IDS_000174 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - AvaII - - Miguel Angel Alcántara-Ortigoza
+/. 1 4 c.469C>T - r.(?) p.(Pro157Ser) g.148582518G>A - - - IDS_000206 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4 c.479C>G - r.479c>g p.Pro159Arg g.148582508G>C - 603C>G - IDS_000061 - PubMed: Flomen 1992, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.500delA - r.? p.(Asn167fs ), p.Asn167fs g.148582487delT - - - IDS_000135 - PubMed: Vafiadaki 1998, PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.506-?_879+?del - r.506_879del p.? g.148577877_148582481del - del ex5-6 - IDS_000062 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.508-1G>A - r.spl p.? g.148579839C>T - - - IDS_000205 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4i c.508-1G>C - r.spl p.? g.148579839C>G - - - IDS_000167 abolishes acceptor splice site intron 4 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 5 c.509_510del - r.(spl?) p.fs* g.148579836_148579837del - - - IDS_000021 - PubMed: Bunge, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
+/. 5 5 c.514C>T - r.514c>u, r.? p.Arg172*, p.(Arg172*) g.148579832G>A - 638C>T - IDS_000063 - PubMed: Flomen 1992, OMIM:var0005, PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Isogai 1998, 1 more item - - Germline - - TaqI- - - Johan den Dunnen
+/. 1 5 c.529G>T - r.? p.Glu177* g.148579817C>A - - - IDS_000144 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.542A>T - r.spl p.(Asn181Ile), p.Asn181Ile g.148579804T>A - 666A>T - IDS_000071 - PubMed: Froisart 2007, PubMed: Moreira da Silva 2001 - - Germline - - FokI+ - - Johan den Dunnen
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