All variants affecting transcripts

192128 entries on 1922 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
A1BG NM_130786.3 19 Both (homozygous) g.58858614del - - - A1BG_000004 - - - Germline - - - - - Yu Sun ?/. - - - - - - - c.1480+105del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858614del - - - A1BG_000004 - - - Germline - - - - - Yu Sun ?/. - - - - - - - c.1480+105del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858676A>G - - - A1BG_000003 - - - Germline - - - - - Yu Sun ?/. - - - - - - - c.1480+43T>C - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.1490g>a p.(Glu494Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.1490g>a p.(Glu494Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.1490g>a p.(Glu494Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T - - - A1BG_000005 - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2LD1 NM_001195087.1 13 Unknown g.101192069del - - - A2LD1_000001 - - - Germline - - - - - Yu Sun ?/. - - - - - - - c.-10-7214del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9004550G>A - - - A2ML1_000003 validated de novo by Sanger sequencing and testing parental DNAs PubMed: Vissers 2014 - De novo yes - - 0 - Lisenka Vissers +?/. - - - - - - - c.2405G>A - - - r.(?) p.(Arg802His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9004550G>T - - - A2ML1_000002 case 2 and 3 affected, case 4 not; variant may be non-penetrant in case 4 PubMed: Vissers 2014 - Germline yes - - 0 - Lisenka Vissers ?/. - - - - - - - c.2405G>T - - - r.(?) p.(Arg802Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9000236G>T - - - A2ML1_000001 variant segregates with disease phenotype in the family PubMed: Vissers 2014 - Germline yes - - 0 - Lisenka Vissers ?/. - - - - - - - c.1775G>T - - - r.(?) p.(Arg592Leu) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AAK1 NM_014911.3 2 Both (homozygous) g.69747490_69747491del - - - AAK1_000001 - - - Germline - - - - - Yu Sun ?/. - - - - - - - c.1210+475_1210+476del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70286550T>A - - - AARS_000008 - - rs11537663 Germline - - - 0 - Andreas Laner -/. - - - - - - - c.*74A>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70299599dup - - - AARS_000010 no impact on splice site - - Germline - - - 0 - Andreas Laner ?/. - - - - - - - c.1223-34dup - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70298949G>A - - - AARS_000007 no impact on AS or splicing - rs117598688 Germline - - - 0 - Andreas Laner -/. - - - - - - - c.1404C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70295184_70295185insCA - - - AARS_000006 - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - - c.1672-125_1672-124insTG - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70293115A>G - - - AARS_000005 - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - - c.1786-26T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70287177A>G - - - AARS_000004 - - rs4081753 Germline - - - 0 - Andreas Laner -/. - - - - - - - c.2715T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70287177A>G - - - AARS_000004 - - rs4081753 Germline - - - 0 - Andreas Laner -/. - - - - - - - c.2715T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70303580G>A - - - AARS_000012 - - rs2070203 Germline - - - 0 - Andreas Laner -/. - - - - - - - c.903C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70303356G>T - - - AARS_000011 - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - - c.962+165C>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Both (homozygous) g.70296388C>T - - - AARS_000009 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - Johan den Dunnen ./. - - - - - - - c.1532G>A - - - r.(?) p.(Arg511Lys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70310991T>A - - - AARS_000002 - - - Germline - - - 0 - Heather McLaughlin +/. - - - - - - 3 c.211A>T - - - r.(?) p.(Asn71Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70302259C>T - - - AARS_000001 - - - Germline - - - 0 - Heather McLaughlin +/. - - - - - - 8 c.986G>A - - - r.(?) p.(Arg329His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70288591T>G - - - AARS_000003 - - - Germline - - - 0 - Heather McLaughlin -/. - - - - - - 17 c.2333A>C - - - r.(?) p.(Glu778Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44275011T>C - - - AARS2_000004 - - rs324136 Germline - - - 0 - Andreas Laner -/. - - - - - - 6 c.1015A>G - - - r.(?) p.(Ile339Val) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44274797T>C - - - AARS2_000003 - - rs7740535 Germline - - - 0 - Andreas Laner -/. - - - - - - 6i c.1041-29A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44272284G>C - - - AARS2_000013 - - rs74950428 Germline - Frequency up to 17% - 0 - Andreas Laner -/. - - - - - - 12i c.1753-14C>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44272324C>A - - - AARS2_000002 found in patient with homozygous pathogenic mutation c.1774C>T; p.Arg592Trp; - rs74964556 Germline - - - 0 - Andreas Laner -/. - - - - - - 12i c.1753-54G>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44272249G>A - - - AARS2_000012 found homozygous; homozygous - - Germline - - - 0 - Andreas Laner +/. - - - - - - 13 c.1774C>T - - - r.(?) p.(Arg592Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44270936C>T - - - AARS2_000011 - - rs325001 Germline - - - 0 - Andreas Laner -/. - - - - - - 15i c.2146-24G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44270870C>T - - - AARS2_000010 found in patient with homozygous pathogenic mutation c.1774C>T; p.Arg592Trp - rs35623954 Germline - - - 0 - Andreas Laner -/. - - - - - - 16 c.2188G>A - - - r.(?) p.(Val730Met) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44270768G>T - - - AARS2_000009 - - rs325002 Germline - - - 0 - Andreas Laner -/. - - - - - - 16i c.2255+35C>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44280812C>T - - - AARS2_000001 - - rs167772 Germline - - - 0 - Andreas Laner -/. - - - - - - 1i c.243+6G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44269193C>T - - - AARS2_000008 - - rs498512 Germline - - - 0 - Andreas Laner -/. - - - - - - 20 c.2607G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44269023T>C - - - AARS2_000014 - - rs325007 Germline - - - 0 - Andreas Laner -/. - - - - - - 20i c.2683-20A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44268371T>C - - - AARS2_000015 - - rs325008 Germline - - - 0 - Andreas Laner -/. - - - - - - 21 c.2871A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44279309C>T - - - AARS2_000007 - - rs41282672 Germline - - - 0 - Andreas Laner -/. - - - - - - 2i c.436-37G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44279111A>G - - - AARS2_000006 - - rs9688508 Germline - - - 0 - Andreas Laner -/. - - - - - - 3i c.581+16T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44275195G>T - - - AARS2_000005 found in patient with homozygous pathogenic mutation c.1774C>T; p.Arg592Trp - rs41282670 Germline - - - 0 - Andreas Laner -/. - - - - - - 5i c.895-64C>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Paternal (confirmed) g.44272249G>A - - - AARS2_000012 - - - Germline - - - 0 - Rick Kamps +/. - - - - - - 13 c.1774C>T - - - r.(?) p.(Arg592Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Maternal (confirmed) g.44272249G>A - - - AARS2_000012 - - - Germline - - - 0 - Rick Kamps +/. - - - - - - 13 c.1774C>T - - - r.(?) p.(Arg592Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113131del - - - AARSD1_000002 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.331+78del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116291_41116296del - - - AARSD1_000001 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.40-42_40-37del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41103938T>C - - - AARSD1_000008 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.1009-27A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41106085T>C - - - AARSD1_000003 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.954-290A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107705A>G - - - AARSD1_000004 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.794+154T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Unknown g.41107737T>C - - - AARSD1_000005 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.794+122A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113543C>G - - - AARSD1_000006 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.172-175G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116234G>A - - - AARSD1_000007 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.60C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113131del - - - AARSD1_000002 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.331+78del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41103938T>C - - - AARSD1_000008 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.1009-27A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41106085T>C - - - AARSD1_000003 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.954-290A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107705A>G - - - AARSD1_000004 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.794+154T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107737T>C - - - AARSD1_000005 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.794+122A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113543C>G - - - AARSD1_000006 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.172-175G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116234G>A - - - AARSD1_000007 - - - Germline - - - - - Yu Sun ./. - - - - - - - c.60C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AASS NM_005763.3 7 Both (homozygous) g.121733190G>A - - - AASS_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - Johan den Dunnen ./. - - - - - - - c.1678C>T - - - r.(?) p.(Pro560Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AASS NM_005763.3 7 Unknown g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - 0 - Johan den Dunnen ./. - - - - - - - c.-13789760_*716479del - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Unknown g.107594868G>C - c.1496C>G;p.(S499C) - ABCA1_000001 - PubMed: Bi 2012, Journal: Bi 2012 - Unknown - 1/67 patients - 0 - Zhongsheng Sun +?/. - - - - - - 12 c.1496C>G - - - r.(1496c>g) p.(Ser499Cys) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Yu et al. 2000 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Jira et al. 2001 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Yu et al. 2000 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #1 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #2 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #2 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2001 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #2 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #2 g.107562804T>C - - - ABCA1_000002 - PubMed: Fitzky et al. 1998 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Parent #2 g.107562804T>C - - - ABCA1_000002 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Unknown g.107547734C>G - - - ABCA1_000056 - - - Unknown - - - 0 - Gina Peloso ./. - - - - - - 49 c.6588G>C - - - r.(?) p.(Gln2196His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Unknown g.107548583T>A - - - ABCA1_000011 - - - Unknown - - - 0 - Gina Peloso ./. - - - - - - 48 c.6397A>T - - - r.(?) p.(Asn2133Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
ABCA1 NM_005502.3 9 Unknown g.107550221C>T - - - ABCA1_000012 - - - Unknown - - - 0 - Gina Peloso ./. - - - - - - 46 c.6184G>A - - - r.(?) p.(Gly2062Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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