All variants in the ASL gene

Information The variants shown are described using the NM_000048.3 transcript reference sequence.

128 entries on 2 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     
+/. 1_17 c.? r.(?) p.? - pathogenic g.? - - - ASL_000000 RNA 2nd allele reduced expression PubMed: Barbosa 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.35G>A r.35g>a p.Arg12Gln - pathogenic g.65546812G>A g.66081825G>A - - ASL_000009 - PubMed: Sampaleanu 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.35G>A r.(?) p.(Arg12Gln) - pathogenic g.65546812G>A g.66081825G>A ASL(NM_001024943.2):c.35G>A (p.R12Q) - ASL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.35G>A r.(?) p.(Arg12Gln) - pathogenic g.65546812G>A g.66081825G>A ASL(NM_001024943.2):c.35G>A (p.R12Q) - ASL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.37T>C r.(?) p.(Phe13Leu) - VUS g.65546814T>C - ASL(NM_001024943.1):c.37T>C (p.F13L) - ASL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.130G>A r.(?) p.(Ala44Thr) - VUS g.65546907G>A - - - ASL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.175G>A r.175g>a p.Glu59Lys - pathogenic g.65546952G>A g.66081965G>A - - ASL_000008 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.175G>A r.175g>a p.Glu59Lys - pathogenic g.65546952G>A g.66081965G>A - - ASL_000008 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.257A>C r.257a>c p.Glu86Ala - pathogenic g.65547404A>C g.66082417A>C - - ASL_000010 - PubMed: Linnebank 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.260A>G r.260a>g p.Asp87Gly - pathogenic g.65547407A>G g.66082420A>G - - ASL_000011 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.260A>G r.260a>g p.Asp87Gly - pathogenic g.65547407A>G g.66082420A>G - - ASL_000011 - PubMed: Walker 1997 - - Germline - - SfaNI+ 0 - Johan den Dunnen
+/. 4 c.260A>G r.260a>g p.Asp87Gly - pathogenic g.65547407A>G g.66082420A>G - - ASL_000011 - PubMed: Walker 1997 - - Germline - - SfaNI+ 0 - Johan den Dunnen
+/. 4 c.260A>G r.260a>g p.Asp87Gly - pathogenic g.65547407A>G g.66082420A>G - - ASL_000011 - PubMed: Walker 1997 - - Germline - - SfaNI+ 0 - Johan den Dunnen
?/. 4 c.283C>T r.(?) p.(Arg95Cys) - VUS g.65547430C>T g.66082443C>T - - ASL_000007 - - - rs28940585 Germline - - - 0 - Johan den Dunnen
+/. 4 c.283C>T r.283c>u p.Arg95Cys - pathogenic g.65547430C>T g.66082443C>T - - ASL_000007 enzyme activity ~1%; sporadic, consanguineous parents PubMed: Walker 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.283C>T r.283c>u p.Arg95Cys - pathogenic g.65547430C>T g.66082443C>T - - ASL_000007 enzyme activity ~1%; sporadic, consanguineous parents PubMed: Walker 1990, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.292del r.[292_348del, 29del] p.[del19, fs*] - pathogenic g.65547867del g.66082880del - - ASL_000012 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.299T>C r.299del p.Ile100Thr - pathogenic g.65547874T>C g.66082887T>C - - ASL_000013 - PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.309G>A r.(?) p.(Thr103=) - likely benign g.65547884G>A g.66082897G>A ASL(NM_001024943.1):c.309G>A (p.T103=) - ASL_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.331C>T r.331c>u p.Arg111Trp - pathogenic g.65547906C>T g.66082919C>T - - ASL_000014 - PubMed: Barbosa 1991 - - Germline - - FokI+ 0 - Johan den Dunnen
+/. 5 c.331C>T r.331c>u p.Arg111Trp - pathogenic g.65547906C>T g.66082919C>T - - ASL_000014 - PubMed: Barbosa 1991 - - Germline - - FokI+ 0 - Johan den Dunnen
+/. 5 c.337C>T r.337c>u p.Arg113Trp - pathogenic g.65547912C>T g.66082925C>T - - ASL_000016 - PubMed: Linnebank 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.346C>T r.292_348del p.[Gln116*, del] - pathogenic g.65547921C>T g.66082934C>T - - ASL_000015 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.346C>T r.(?) p.(Gln116*) - pathogenic (recessive) g.65547921C>T g.66082934C>T Q116X - ASL_000015 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.392C>T r.392c>u p.Thr131Met - pathogenic g.65548107C>T g.66083120C>T - - ASL_000017 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
?/. - c.436C>T r.(?) p.(Arg146Trp) - VUS g.65548151C>T - ASL(NM_001024943.1):c.436C>T (p.R146W) - ASL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 enzyme activity below 2% PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 6i c.446+1G>A r.349_446del p.del21 - pathogenic g.65548162G>A g.66083175G>A IVS5+1G>A - ASL_000018 - PubMed: Linnenbank 2002, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.446+1G>A r.spl? p.? - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.446+1G>A r.spl? p.? - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.446+1G>A r.spl? p.? - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.446+1G>A r.spl? p.? - pathogenic g.65548162G>A g.66083175G>A ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A - ASL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.447-1G>A r.spl? p.? - pathogenic g.65551571G>A g.66086584G>A ASL(NM_001024943.2):c.447-1G>A - ASL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 7 c.461T>C r.461u>c p.Leu154Pro - pathogenic g.65551586T>C g.66086599T>C - - ASL_000019 - PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.476C>A r.476c>a p.Thr159Asn - pathogenic g.65551601C>A g.66086614C>A - - ASL_000020 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
?/. - c.502C>T r.(?) p.(Arg168Cys) - VUS g.65551627C>T g.66086640C>T - - ASL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 8 c.532G>A r.(?) p.(Val178Met) - VUS g.65551738G>A g.66086751G>A - - ASL_000021 - - - rs28941473 Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity 8 % PubMed: Linnenbank 2002, PubMed: Kleijer 2002, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity 8 % PubMed: Linnenbank 2002, PubMed: Kleijer 2002, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.532G>A r.532g>a p.Val178Met - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.532G>A r.(?) p.(Val178Met) - pathogenic g.65551738G>A g.66086751G>A ASL(NM_001024943.2):c.532G>A (p.V178M) - ASL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.532G>A r.(?) p.(Val178Met) - pathogenic g.65551738G>A g.66086751G>A ASL(NM_001024943.2):c.532G>A (p.V178M) - ASL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.532G>A r.(?) p.(Val178Met) - pathogenic g.65551738G>A g.66086751G>A - - ASL_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28941473 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+?/. - c.532G>A r.(?) p.(Val178Met) - likely pathogenic g.65551738G>A g.66086751G>A ASL(NM_001024943.2):c.532G>A (p.V178M) - ASL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 8 c.545G>A r.545g>a p.Arg182Gln - pathogenic g.65551751G>A g.66086764G>A - - ASL_000022 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 8 c.556C>A r.(?) p.(=) - benign g.65551762C>A g.66086775C>A Arg186Arg - ASL_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - 0 - Johan den Dunnen
-/. - c.556C>A r.(?) p.(Arg186=) - benign g.65551762C>A g.66086775C>A ASL(NM_001024943.1):c.556C>A (p.R186=) - ASL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.575_580dup r.575_580dup p.ins2 - pathogenic g.65551781_65551786dup g.66086794_66086799dup 580insAGCGGA - ASL_000023 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.578G>A r.(?) p.Arg193Gln - pathogenic g.65551784G>A g.66086797G>A - - ASL_000024 enzyme activity 6 % PubMed: Linnenbank 2002, PubMed: Kleijer 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.578G>A r.578g>a p.Arg193Gln - pathogenic g.65551784G>A g.66086797G>A - - ASL_000024 - PubMed: Barbosa 1991 - - Germline - - - 0 - Johan den Dunnen
-/. 8i c.602+13C>T r.(?) p.(=) - benign g.65551821C>T g.66086834C>T - - ASL_000002 - - - rs12536292 Germline - - - 0 - Johan den Dunnen
-/. 8i c.602+13C>T r.(?) p.(=) - benign g.65551821C>T g.66086834C>T - - ASL_000002 - PubMed: Mitchell 2009 - - Germline - 3/94 - 0 - Johan den Dunnen
-/. - c.602+13C>T r.(=) p.(=) - benign g.65551821C>T g.66086834C>T ASL(NM_001024943.2):c.602+13C>T - ASL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.688A>G r.(?) p.(Met230Val) ACMG VUS g.65552748A>G g.66087761A>G - - ASL_000049 - - - rs143957662 Germline - - - 0 - Andreas Laner
+/. 10i c.718+5G>A r.656_718del p.del19 - pathogenic g.65552783G>A g.66087796G>A IVS9+5G>A - ASL_000025 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 10i c.718+5G>A r.656_718del p.del19 - pathogenic g.65552783G>A g.66087796G>A IVS9+5G>A - ASL_000025 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 10i c.718+14A>T r.(?) p.(=) - benign g.65552792A>T g.66087805A>T - - ASL_000003 - PubMed: Mitchell 2009 - - Germline - 2/94 - 0 - Johan den Dunnen
-/. - c.718+14A>T r.(=) p.(=) - benign g.65552792A>T g.66087805A>T ASL(NM_001024943.2):c.718+14A>T - ASL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.718+14A>T r.(=) p.(=) - likely benign g.65552792A>T g.66087805A>T ASL(NM_001024943.2):c.718+14A>T - ASL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.721G>A r.(?) p.(Glu241Lys) - pathogenic (recessive) g.65553796G>A g.66088809G>A E241K - ASL_000041 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.762C>A r.(?) p.Ser254Arg - pathogenic g.65553837C>A g.66088850C>A - - ASL_000026 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.837G>C r.(?) p.(Thr279=) - likely benign g.65554081G>C g.66089094G>C ASL(NM_001024943.1):c.837G>C (p.T279=) - ASL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 12 c.857A>G r.(?) p.(Gln286Arg) - VUS g.65554101A>G g.66089114A>G - - ASL_000008 enzyme activity below 3%; sporadic, consanguineous parents - - rs28941472 Germline - - - 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 enzyme activity 6 % PubMed: Linnenbank 2002, PubMed: Kleijer 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.857A>G r.(?) p.(Gln286Arg) - pathogenic g.65554101A>G g.66089114A>G - - ASL_000008 enzyme activity below 3%; sporadic, consanguineous parents PubMed: Walker 1997, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.857A>G r.(?) p.(Gln286Arg) - pathogenic g.65554101A>G g.66089114A>G - - ASL_000008 enzyme activity below 3%; sporadic, consanguineous parents PubMed: Walker 1997, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 - PubMed: Barbosa 1991 - - Germline - - HpaII+ 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 sporadic, consanguineous parents PubMed: Walker 1997 - - Germline - - NciI+ 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 sporadic, consanguineous parents PubMed: Walker 1997 - - Germline - - NciI+ 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 - PubMed: Walker 1997 - - Germline - - NciI+ 0 - Johan den Dunnen
+/. 12 c.857A>G r.857a>g p.Gln286Arg - pathogenic g.65554101A>G g.66089114A>G - - ASL_000027 - PubMed: Sampaleanu 2001 - - Germline - - NciI+ 0 - Johan den Dunnen
+/. - c.857A>G r.(?) p.(Gln286Arg) - pathogenic g.65554101A>G g.66089114A>G - - ASL_000008 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28941472 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+/. 12 c.889C>T r.889c>u p.Arg297Trp - pathogenic g.65554133C>T g.66089146C>T - - ASL_000028 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 13 c.921T>C r.921u>c p.= - benign g.65554265T>C g.66089278T>C - - ASL_000029 - PubMed: Stadler 2001 - - Germline - - - 0 - Johan den Dunnen
-/. 13 c.921T>C r.921u>c p.= - benign g.65554265T>C g.66089278T>C - - ASL_000029 - PubMed: Stadler 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 13 c.925G>A r.925g>a p.Gly309Arg - pathogenic g.65554269G>A g.66089282G>A - - ASL_000030 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 13 c.925G>A r.925g>a p.Gly309Arg - pathogenic g.65554269G>A g.66089282G>A - - ASL_000030 enzyme activity below 2% PubMed: Linnenbank 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 13i c.978+30C>T r.(?) p.(=) - benign g.65554352C>T g.66089365C>T - - ASL_000004 - - - rs160647 Germline - - - 0 - Johan den Dunnen
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