All variants in the ASS1 gene

Information The variants shown are described using the NM_000050.4 transcript reference sequence.

230 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
?/. - c.-6+8C>T r.(=) p.(=) - VUS g.133325728C>T g.130450341C>T ASS1(NM_000050.4):c.-6+8C>T (p.(=)) - ASS1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-5-13C>T r.(=) p.(=) - benign g.133327598C>T g.130452211C>T ASS1(NM_000050.4):c.-5-13C>T - ASS1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2i c.-5-4C>T r.spl? p.? - pathogenic g.133327607C>T g.130452220C>T int0 -4C>T - ASS1_000055 described as nonsense variant PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 10i_12i c.(c.688+1_689-1)_(838+1_839-1)del r.689_838del p.? - pathogenic g.(133352349_133355102)_(133355837_133364719)del - - - ASS1_000008 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.40G>A r.(?) p.(Gly14Ser) - pathogenic g.133327655G>A g.130452268G>A - - ASS1_000056 - Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.53C>T r.(?) p.(Ser18Leu) - pathogenic g.133327668C>T g.130452281C>T - - ASS1_000057 - PubMed: Kobayashi 1991, OMIM:var0011 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.55T>C r.(?) p.(Cys19Arg) - pathogenic g.133327670T>C g.130452283T>C - - ASS1_000058 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
-/. - c.99C>T r.(?) p.(Ala33=) - benign g.133327714C>T g.130452327C>T ASS1(NM_000050.4):c.99C>T (p.A33=) - ASS1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.106-10T>G r.(=) p.(=) - benign g.133329682T>G g.130454295T>G ASS1(NM_000050.4):c.106-10T>G - ASS1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 c.119A>T r.(?) p.(Gln40Leu) - pathogenic g.133329705A>T g.130454318A>T - - ASS1_000059 - {Haberle 2003} - - Germline - - - 0 - Johan den Dunnen
-?/. - c.132C>T r.(?) p.(Phe44=) - likely benign g.133329718C>T g.130454331C>T ASS1(NM_000050.4):c.132C>T (p.F44=) - ASS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4i c.174+1G>T r.spl p.? - pathogenic g.133329761G>T g.130454374G>T - - ASS1_000061 - {Kleijer 2006} - - Germline - - - 0 - Johan den Dunnen
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.del p.del - pathogenic g.(133329761_133333787)_(133333977_133339497)del - ex5 del - ASS1_000062 3-4 Kb deletion Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.206T>C r.(?) p.(Val69Ala) - pathogenic g.133333819T>C g.130458432T>C - - ASS1_000063 - {Vilaseca 2001} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.206T>C r.(?) p.(Val69Ala) - pathogenic g.133333819T>C g.130458432T>C - - ASS1_000063 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.235T>C r.(?) p.(Ser79Pro) - pathogenic g.133333848T>C g.130458461T>C - - ASS1_000064 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) - pathogenic g.133333869C>T g.130458482C>T - - ASS1_000065 - PubMed: Kobayashi 1991, OMIM:var0012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.256C>T r.(?) p.(Arg86Cys) - pathogenic g.133333869C>T g.130458482C>T - - ASS1_000065 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.257G>A r.(?) p.(Arg86His) - pathogenic g.133333870G>A g.130458483G>A - - ASS1_000066 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.257G>A r.(?) p.(Arg86His) - pathogenic g.133333870G>A g.130458483G>A - - ASS1_000066 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
-?/. - c.282C>T r.(?) p.(Ala94=) - likely benign g.133333895C>T g.130458508C>T ASS1(NM_000050.4):c.282C>T (p.A94=) - ASS1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.285G>T r.(?) p.(Arg95Ser) - pathogenic g.133333898G>T g.130458511G>T - - ASS1_000067 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.286C>T r.(?) p.(Pro96Ser) - pathogenic g.133333899C>T g.130458512C>T - - ASS1_000068 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.287C>A r.(?) p.(Pro96His) - pathogenic g.133333900C>A g.130458513C>A - - ASS1_000069 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.299del r.(?) p.(Arg100Profs*40) - pathogenic g.133333912del g.130458525del - - ASS1_000070 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
?/. - c.323G>T r.(?) p.(Arg108Leu) - VUS g.133333936G>T g.130458549G>T - - ASS1_000071 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 5 c.323G>T r.(?) p.(Arg108Leu) - pathogenic g.133333936G>T g.130458549G>T - - ASS1_000071 - PubMed: Haberle 2002, OMIM:var0014 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.323G>T r.(?) p.(Arg108Leu) - pathogenic g.133333936G>T g.130458549G>T - - ASS1_000071 - {Vilaseca 2001} - - Germline - - - 0 - Johan den Dunnen
-?/. - c.323G>T r.(?) p.(Arg108Leu) - likely benign g.133333936G>T g.130458549G>T ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.323G>T r.(?) p.(Arg108Leu) - benign g.133333936G>T g.130458549G>T ASS1(NM_000050.4):c.323G>T (p.R108L) - ASS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.333C>T r.(?) p.(Ala111=) - likely benign g.133333946C>T g.130458559C>T ASS1(NM_000050.4):c.333C>T (p.A111=) - ASS1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.349G>A r.(?) p.(Gly117Ser) - pathogenic g.133333962G>A g.130458575G>A - - ASS1_000073 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.349G>A r.(?) p.(Gly117Ser) - pathogenic g.133333962G>A g.130458575G>A - - ASS1_000073 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.349G>A r.(?) p.(Gly117Ser) - pathogenic g.133333962G>A g.130458575G>A - - ASS1_000073 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.349G>A r.(?) p.(Gly117Ser) - pathogenic g.133333962G>A g.130458575G>A - - ASS1_000073 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.350G>A r.(?) p.(Gly117Asp) - pathogenic g.133333963G>A g.130458576G>A - - ASS1_000074 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.350G>A r.(?) p.(Gly117Asp) - pathogenic g.133333963G>A g.130458576G>A - - ASS1_000074 - {Vilaseca 2001} - - Germline - - - 0 - Johan den Dunnen
-/. 4 c.351C>T r.(?) p.(=) - benign g.133333964C>T g.130458577C>T - - ASS1_000060 - PubMed: Engel 2009 - rs35772983 Germline - - - 0 - Johan den Dunnen
+/. 5 c.352G>A r.(?) p.(Ala118Thr) - pathogenic g.133333965G>A g.130458578G>A - - ASS1_000075 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.352G>A r.(?) p.(Ala118Thr) - pathogenic g.133333965G>A g.130458578G>A - - ASS1_000075 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.352G>A r.(?) p.(Ala118Thr) - pathogenic g.133333965G>A g.130458578G>A - - ASS1_000075 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.352G>A r.352g>a p.Ala118Thr - pathogenic g.133333965G>A g.130458578G>A - - ASS1_000075 - PubMed: Kobayashi 1994 - - Germline - - - 0 - Johan den Dunnen
?/. - c.352G>A r.(?) p.(Ala118Thr) - VUS g.133333965G>A - ASS1(NM_000050.4):c.352G>A (p.A118T) - ASS1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.356C>T r.(?) p.(Thr119Ile) - pathogenic g.133333969C>T g.130458582C>T - - ASS1_000076 - {Vilaseca 2001} - - Germline - - - 0 - Johan den Dunnen
?/. - c.364-6T>C r.(=) p.(=) - VUS g.133339492T>C g.130464105T>C ASS1(NM_000050.4):c.364-6T>C (, p.(=)) - ASS1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.364-6T>C r.(=) p.(=) - likely benign g.133339492T>C g.130464105T>C ASS1(NM_000050.4):c.364-6T>C (, p.(=)) - ASS1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 5i_6i c.(363+1_364-1)_(420+1_421-1)del r.del p.del - pathogenic g.(133333977_133339497)_(133339555_133342111)del - ex6 del - ASS1_000077 2-3 Kb deletion Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.370G>A r.(?) p.(Asp124Asn) - pathogenic g.133339504G>A g.130464117G>A - - ASS1_000078 - {Kleijer 2006} - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.379C>T r.(?) p.(Arg127Trp) - pathogenic g.133339513C>T g.130464126C>T - - ASS1_000079 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.379C>T r.(?) p.(Arg127Trp) - pathogenic g.133339513C>T g.130464126C>T - - ASS1_000079 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.380G>A r.(?) p.(Arg127Gln) - pathogenic g.133339514G>A g.130464127G>A - - ASS1_000080 - {Haberle 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.380G>A r.(?) p.(Arg127Gln) - pathogenic g.133339514G>A g.130464127G>A - - ASS1_000080 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.380G>A r.(?) p.(Arg127Gln) - pathogenic (recessive) g.133339514G>A g.130464127G>A R127Q - ASS1_000080 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
-/. - c.421-19C>T r.(=) p.(=) - benign g.133342093C>T g.130466706C>T ASS1(NM_000050.4):c.421-19C>T - ASS1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - MspI- 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 patient chromosomes Kobayashi ASH1989 A201, PubMed: Kobayashi 1995, OMIM:var0003 - - Germline - 19/33 - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.spl p.? - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kakinoki 1997 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del - pathogenic g.133342110A>G g.130466723A>G - - ASS1_000081 - PubMed: Kobayashi 1994 - - Germline - - - 0 - Johan den Dunnen
+/. - c.421-2A>G r.spl? p.? - pathogenic g.133342110A>G g.130466723A>G ASS1(NM_000050.4):c.421-2A>G - ASS1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.437G>A r.(?) p.(Arg146Lys) - likely pathogenic g.133342128G>A g.130466741G>A - - ASS1_000104 - - - - Germline yes - - 0 - Belen Perez
+/. 7 c.450_451del r.(?) p.(Phe150Leufs*9) - pathogenic g.133342141_133342142del g.130466754_130466755del c.450_451delCT - ASS1_000082 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.460_467del r.(?) p.(Phe154Profs*3) - pathogenic g.133342151_133342158del g.130466764_130466771del 459_466del - ASS1_000083 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.469C>T r.(?) p.(Arg157Cys) - pathogenic g.133342160C>T g.130466773C>T - - ASS1_000084 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.469C>T r.(?) p.(Arg157Cys) - pathogenic g.133342160C>T g.130466773C>T - - ASS1_000084 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.470G>A r.(?) p.(Arg157His) - pathogenic g.133342161G>A g.130466774G>A - - ASS1_000085 - Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
?/. - c.470G>A r.(?) p.(Arg157His) - VUS g.133342161G>A g.130466774G>A - - ASS1_000085 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908637 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 7 c.479T>C r.(?) p.(Leu160Pro) - pathogenic g.133342170T>C g.130466783T>C - - ASS1_000086 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7i c.495+1G>T r.421_495del p.Val141_Lys165del - pathogenic g.133342187G>T g.130466800G>T - - ASS1_000087 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.496-1766_597+732delinsGC r.496_597delinsGC p.? - VUS g.133344455_133345489delinsGC - - - ASS1_000105 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - 0 - Belen Perez
+/. 7i_8 c.496-21_515del r.spl p.del - pathogenic g.133346200_133346240del g.130470813_130470853del - - ASS1_000088 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7i_8 c.496-21_515del r.spl p.del - pathogenic g.133346200_133346240del g.130470813_130470853del - - ASS1_000088 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
-/. 8 c.501C>T r.(?) p.(=) - benign g.133346226C>T g.130470839C>T His167His - ASS1_000001 - PubMed: Mitchell 2009 - - Germline - 15/94 - 0 - Johan den Dunnen
-/. 8 c.501C>T r.(?) p.(=) - benign g.133346226C>T g.130470839C>T - - ASS1_000001 - PubMed: Engel 2009 - rs10901072 Germline - - - 0 - Johan den Dunnen
-/. - c.501C>T r.(?) p.(His167=) - benign g.133346226C>T g.130470839C>T ASS1(NM_000050.4):c.501C>T (p.H167=) - ASS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - PubMed: Haberle 2002, OMIM:var0015 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 sporadic, consanguineous parents PubMed: Haberle 2002, OMIM:var0015 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 - {Berning in press} - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 sporadic, consanguineous parents PubMed: Haberle 2002, OMIM:var0015 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.535T>C r.(?) p.(Trp179Arg) - pathogenic g.133346260T>C g.130470873T>C - - ASS1_000089 sporadic, consanguineous parents PubMed: Haberle 2002, OMIM:var0015 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.539G>A r.(?) p.(Ser180Asn) - pathogenic g.133346264G>A g.130470877G>A - - ASS1_000091 sporadic, consanguineous parents Kobayashi ASH1989 A201, {Kobayashi 1990}, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
-/. 8 c.561C>T r.(?) p.(=) - benign g.133346286C>T g.130470899C>T - - ASS1_000100 - PubMed: Engel 2009 - rs2297599 Germline - - - 0 - Johan den Dunnen
-/. 8 c.564C>T r.(?) p.(=) - benign g.133346289C>T g.130470902C>T Ile188Ile - ASS1_000002 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
-/. 8 c.564C>T r.(?) p.(=) - benign g.133346289C>T g.130470902C>T - - ASS1_000002 - - - rs2297599 Germline - - - 0 - Johan den Dunnen
-?/. - c.567-4G>A r.spl? p.? - likely benign g.133346868G>A - ASS1(NM_000050.4):c.567-4G>A - ASS1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.568T>G r.(?) p.(Tyr190Asp) - pathogenic g.133346873T>G g.130471486T>G - - ASS1_000092 - {Sander 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 9 c.571G>A r.(?) p.(Glu191Lys) - pathogenic g.133346876G>A g.130471489G>A - - ASS1_000093 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. 9 c.571G>A r.(?) p.(Glu191Lys) - pathogenic g.133346876G>A g.130471489G>A - - ASS1_000093 - {Gao 2003} - - Germline - - - 0 - Johan den Dunnen
+/. - c.571G>A r.(?) p.(Glu191Lys) - pathogenic (recessive) g.133346876G>A g.130471489G>A E191K - ASS1_000093 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 9 c.571G>C r.(?) p.(Glu191Gln) - pathogenic g.133346876G>C g.130471489G>C - - ASS1_000094 - PubMed: Engel 2009 - - Germline - - - 0 - Johan den Dunnen
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