All variants in the ATL1 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_015915.4 transcript reference sequence.

775 entries on 8 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.-11C>T r.(?) p.(=) - likely benign g.51026973C>T g.50560255C>T ATL1(NM_001127713.1):c.-11C>T - ATL1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 c.35-3C>T r.35_282del p.Gly12fs - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 2 c.35-3C>T r.35_282del p.Gly12fs - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline yes - - 0 - Christian Beetz
+/. 2 c.35-3C>T r.35_282del p.Gly12fs - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline yes - - 0 - Christian Beetz
+/. 2 c.35-3C>T r.spl p.? - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Park 2015 - - De novo yes - - 0 - Christian Beetz
-?/. 2 c.84A>G r.(?) p.(=) - pathogenic g.51054598A>G g.50587880A>G - - ATL1_000061 - PubMed: Dufke 2012 - rs35014209 Germline yes - - 0 - Christian Beetz
-?/. 2 c.84A>G r.(?) p.(=) - pathogenic g.51054598A>G g.50587880A>G - - ATL1_000061 - PubMed: Dufke 2012 - rs35014209 Germline yes - - 0 - Christian Beetz
-/. - c.84A>G r.(?) p.(Pro28=) - benign g.51054598A>G g.50587880A>G ATL1(NM_001127713.1):c.84A>G (p.P28=) - ATL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.84A>G r.(?) p.(Pro28=) - benign g.51054598A>G g.50587880A>G ATL1(NM_001127713.1):c.84A>G (p.P28=) - ATL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 2 c.196G>C r.(?) p.(Glu66Gln) - pathogenic g.51054710G>C g.50587992G>C - - ATL1_000047 - PubMed: Guelly 2011 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 2 c.196G>C r.(?) p.(Glu66Gln) - pathogenic g.51054710G>C g.50587992G>C - - ATL1_000047 - PubMed: Guelly 2011 - - Germline yes - - 0 - Christian Beetz
+/. - c.196G>C r.(?) p.(Glu66Gln) - pathogenic g.51054710G>C g.50587992G>C ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.4):c.196G>C (p.E66Q) - ATL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.196G>C r.(?) p.(Glu66Gln) - VUS g.51054710G>C - ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.4):c.196G>C (p.E66Q) - ATL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.322A>G r.(?) p.(Thr108Ala) - likely benign g.51057698A>G - ATL1(NM_001127713.1):c.322A>G (p.T108A) - ATL1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.322A>G r.(?) p.(Thr108Ala) - likely benign g.51057698A>G - ATL1(NM_001127713.1):c.322A>G (p.T108A) - ATL1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - Christian Beetz
-/. - c.351G>A r.(?) p.(Glu117=) - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.351G>A r.(?) p.(Glu117=) - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.351G>A r.(?) p.(Glu117=) - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/? 3 c.353G>A r.(?) p.(Arg118Gln) - likely pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - - - - Germline yes - - 0 - Tahir Khan
+/. 3 c.353G>A r.(?) p.(Arg118Gln) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - Christian Beetz
-/. - c.417+3A>G r.spl? p.? - benign g.51057796A>G g.50591078A>G ATL1(NM_001127713.1):c.417+3A>G - ATL1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.418-19G>T r.(=) p.(=) - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.418-19G>T r.(=) p.(=) - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.418-19G>T r.(=) p.(=) - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.(417+1_418-1)_(522+1_523-1)del r.? p.? - pathogenic g.(51057794_51058252)_(51058358_51060563)del - del exon 4 - ATL1_000079 - PubMed: Sulek 2013 - - De novo yes - - 0 - Christian Beetz
?/. - c.439A>T r.(?) p.(Thr147Ser) - VUS g.51058274A>T - ATL1(NM_001127713.1):c.439A>T (p.T147S) - ATL1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.450C>A r.(?) p.(Thr150=) - likely benign g.51058285C>A - ATL1(NM_001127713.1):c.450C>A (p.T150=) - ATL1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 variant present in affected index and his father, absent in his mother - - - Germline yes - - 0 - Mahmoud Koko
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 - PubMed: Ivanova 2007 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 - PubMed: Ivanova 2007 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Dufke 2012 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.460C>G r.(?) p.(Gln154Glu) - pathogenic g.51058295C>G g.50591577C>G - - ATL1_000044 - PubMed: Álvarez 2010 - - De novo yes - - 0 - Christian Beetz
+/. 4 c.460C>G r.(?) p.(Gln154Glu) - pathogenic g.51058295C>G g.50591577C>G - - ATL1_000044 - PubMed: Álvarez 2010 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.470T>G r.(?) p.(Leu157Trp) - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Rainier 2006 - - De novo yes - - 0 - Johan den Dunnen
+/. 4 c.470T>G r.(?) p.(Leu157Trp) - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Ivanova 2007 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.470T>G r.(?) p.(Leu157Trp) - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Ivanova 2007 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.473G>C r.(?) p.(Arg158Thr) - pathogenic g.51058308G>C g.50591590G>C - - ATL1_000056 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.473G>C r.(?) p.(Arg158Thr) - pathogenic g.51058308G>C g.50591590G>C - - ATL1_000056 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.484A>C r.(?) p.(Thr162Pro) - pathogenic g.51058319A>C g.50591601A>C - - ATL1_000021 - PubMed: Namekawa 2006 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline yes - - 0 - Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline yes - - 0 - Christian Beetz
+?/. - c.488T>C r.(?) p.(Val163Ala) - likely pathogenic g.51058323T>C g.50591605T>C ATL1(NM_001127713.1):c.488T>C (p.V163A) - ATL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.488T>C r.(?) p.(Val163Ala) - likely pathogenic g.51058323T>C - ATL1(NM_001127713.1):c.488T>C (p.V163A) - ATL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 4 c.493G>A r.(?) p.(Ala165Thr) - pathogenic g.51058328G>A g.50591610G>A - - ATL1_000037 - PubMed: Smith 2009 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 4 c.493G>A r.(?) p.(Ala165Thr) - pathogenic g.51058328G>A g.50591610G>A - - ATL1_000037 - PubMed: Smith 2009 - - Germline yes - - 0 - Christian Beetz
+/. - c.493G>T r.(?) p.(Ala165Ser) - pathogenic g.51058328G>T g.50591610G>T - - ATL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.508A>G r.(?) p.(Ile170Val) - VUS g.51058343A>G g.50591625A>G ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val)) - ATL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.508A>G r.(?) p.(Ile170Val) - VUS g.51058343A>G g.50591625A>G ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val)) - ATL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline/De novo (untested) yes - - 0 - Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - Christian Beetz
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