All variants in the ANO5 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_213599.2 transcript reference sequence.

982 entries on 10 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_22_ c.-317_*3602{0} r.0 p.0 - pathogenic (recessive) g.(?_22044899)_(22462949_?)del - minmal 22044899-22462949del - ANO5_000269 418 kb deletion involving ANO5 PubMed: Liewluck 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. _1_7i c.-317_(648+1_649-1)del r.0? p.0? - pathogenic (recessive) g.(?_22214722)_(22249133_22257708)del g.(?_22193176)_(22227587_22236162)del del ex1-7 - ANO5_000267 - PubMed: Vazquez 2020 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.-162A>G r.(?) p.(=) - VUS g.22214877A>G g.22193331A>G - - ANO5_000027 - - - rs61879341 Germline - - - 0 - Johan den Dunnen
?/. 1 c.-136G>C r.(?) p.(=) - VUS g.22214903G>C g.22193357G>C - - ANO5_000026 - - - rs12792259 Germline - - - 0 - Johan den Dunnen
-/. - c.-136G>C r.(?) p.(=) - benign g.22214903G>C g.22193357G>C - - ANO5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.9C>G r.(?) p.(Asp3Glu) - likely benign g.22215047C>G - ANO5(NM_213599.2):c.9C>G (p.D3E) - ANO5_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.11C>G r.(?) p.(Pro4Arg) - VUS g.22215049C>G g.22193503C>G - - ANO5_000131 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.13del r.(?) p.(Asp5Ilefs*17) - pathogenic g.22215051del g.22193505del - - ANO5_000072 - - - - Germline - - - 0 - Tom Winder
-?/. - c.41-15_41-12del r.(=) p.(=) - likely benign g.22225335_22225338del g.22203789_22203792del ANO5(NM_213599.2):c.41-15_41-12delTCTT - ANO5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1i c.41-1G>A r.spl p.? - likely pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 - - - - Germline - - - 0 - Tom Winder
?/. 1i c.41-1G>A r.spl p.? - VUS g.22225349G>A g.22203803G>A - - ANO5_000044 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
+/. 1i c.41-1G>A r.spl p.? - pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1i c.41-1G>A r.spl p.? - pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.41-1G>A r.spl p.? - pathogenic (recessive) g.22225349G>A g.22203803G>A - - ANO5_000044 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+?/. - c.69C>A r.(?) p.(Tyr23*) - likely pathogenic g.22225378C>A g.22203832C>A - - ANO5_000279 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
+/. - c.87G>A r.spl p.? - pathogenic (recessive) g.22225396G>A g.22203850G>A - - ANO5_000271 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.108_109del r.(?) p.(Glu36Aspfs*7) - pathogenic g.22232830_22232831del g.22211284_22211285del 108_109delGA - ANO5_000132 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.129A>G r.(?) p.(Glu43=) - likely benign g.22232851A>G g.22211305A>G ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.129A>G r.(?) p.(Glu43=) - likely benign g.22232851A>G g.22211305A>G ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.130G>A r.(?) p.(Glu44Lys) - VUS g.22232852G>A g.22211306G>A - - ANO5_000133 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.138+9C>T r.(=) p.(=) - likely benign g.22232869C>T - ANO5(NM_213599.2):c.138+9C>T - ANO5_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3i c.138+169G>A r.(=) p.(=) - VUS g.22233029G>A g.22211483G>A - - ANO5_000009 - - - rs4922980 Germline - 0.31-0.88 - 0 - Johan den Dunnen
?/. 3i c.138+206T>C r.(=) p.(=) - VUS g.22233066T>C g.22211520T>C - - ANO5_000010 - - - rs4922981 Germline - 0.19-0.90 - 0 - Johan den Dunnen
+/. 3i c.139-1del r.spl p.? - pathogenic g.22239791del g.22218245del - - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3i c.139-1del r.spl p.? - pathogenic g.22239791del g.22218245del 139-1delG - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 4 c.139C>T r.(?) p.(Pro47Ser) - VUS g.22239792C>T g.22218246C>T - - ANO5_000135 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 4 c.139C>T r.(?) p.(Pro47Ser) - VUS g.22239792C>T g.22218246C>T - - ANO5_000135 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.148C>T r.(?) p.(Arg50*) - pathogenic g.22239801C>T g.22218255C>T - - ANO5_000052 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.148C>T r.(?) p.(Arg50*) - pathogenic g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50*) - pathogenic (recessive) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Yu 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50*) - pathogenic (recessive) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
?/. 4 c.149G>A r.(?) p.(Arg50Gln) - VUS g.22239802G>A g.22218256G>A - - ANO5_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.155A>G r.(?) p.(Asn52Ser) - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 4 c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.155A>G r.(?) p.(Asn52Ser) - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143777403 Germline - 6/2794 individuals - 0 - Mohammed Faruq
+/. - c.155A>G r.(?) p.(Asn52Ser) - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.155A>G r.(?) p.(Asn52Ser) - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.169C>T r.(?) p.(Arg57Trp) - pathogenic (recessive) g.22239822C>T g.22218276C>T - - ANO5_000272 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. 4 c.169C>T r.(?) p.(Arg57Trp) - pathogenic (recessive) g.22239822C>T - g.48361T>C - ANO5_000272 - PubMed: Saat 2021 - - Germline - - - 0 - Ibrahim Sahin
?/. 4 c.170G>A r.(?) p.(Arg57Gln) - VUS g.22239823G>A g.22218277G>A - - ANO5_000137 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.170G>A r.(?) p.(Arg57Gln) - VUS g.22239823G>A g.22218277G>A ANO5(NM_213599.2):c.170G>A (p.R57Q) - ANO5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Punetha 2016 - - Germline - - - 0 - Jaya Punetha
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Schessl 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 4 c.172C>T r.(?) p.(Arg58Trp) - VUS g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.172C>T r.(?) p.(Arg58Trp) ACMG pathogenic g.22239825C>T g.22218279C>T NM_001142649:c.169C>T - ANO5_000039 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Vazquez 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - 0 - Johan den Dunnen
+/. - c.173G>A r.(?) p.(Arg58Gln) - pathogenic (recessive) g.22239826G>A g.22218280G>A - - ANO5_000228 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+?/. - c.180+2T>C r.spl p.? - likely pathogenic (recessive) g.22239835T>C g.22218289T>C - - ANO5_000249 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - 0 - Johan den Dunnen
-/. - c.180+21T>C r.(=) p.(=) - benign g.22239854T>C g.22218308T>C ANO5(NM_213599.2):c.180+21T>C - ANO5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 4i c.180+223G>A r.(=) p.(=) - VUS g.22240056G>A g.22218510G>A - - ANO5_000008 - - - rs4620717 Germline - 0.02-0.47 - 0 - Johan den Dunnen
?/. 5 c.185A>G r.(?) p.(Gln62Arg) - VUS g.22242647A>G g.22221101A>G - - ANO5_000138 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 1/100 - 0 - Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 2/210 - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.191dup r.191dup p.Asn64Lysfs*15 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 nonsense mediated mRNA decay Bolduc ASHG2011 A114 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - Johan den Dunnen
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