All variants affecting transcripts

245540 entries on 2456 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     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
A1BG NM_130786.3 19 Both (homozygous) g.58858614del g.58347248del - - A1BG_000004 - - - - Germline - - - - - Yu Sun ?/. - - - - - - c.1480+105del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858614del g.58347248del - - A1BG_000004 - - - - Germline - - - - - Yu Sun ?/. - - - - - - c.1480+105del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858676A>G g.58347310A>G - - A1BG_000003 - - - - Germline - - - - - Yu Sun ?/. - - - - - - c.1480+43T>C - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>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 g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>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 g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>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 g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1482del - - - r.1492del p.(Arg500fs) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A1BG NM_130786.3 19 Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - Johan den Dunnen ?/. - - - - - - c.1480G>A - - - r.? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2LD1 NM_001195087.1 13 Unknown g.101192069del g.100539815del - - A2LD1_000001 - - - - Germline - - - - - Yu Sun ?/. - - - - - - c.-10-7214del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9004550G>A g.8851954G>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 g.8851954G>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 g.8847640G>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) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.8995761A>G - A2ML1:c.1280A>G (N427S) - A2ML1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.1280A>G - - - r.(?) p.(Asn427Ser) - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.8990171A>G - A2ML1:c.855+9A>G - A2ML1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.855+9A>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9013481G>A - A2ML1:c.3269G>A (G1090D) - A2ML1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen ./. - - - - - - c.3269G>A - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9001508C>T - A2ML1:c.2026C>T (R676W) - A2ML1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.2026C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9004550G>T - A2ML1:c.2405G>T (R802L) - A2ML1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.2405G>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.8976358C>G - A2ML1:c.289C>G (R97G) - A2ML1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.289C>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9009835T>C - A2ML1:c.2924T>C (M975T) - A2ML1_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.2924T>C - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9010686C>T - A2ML1:c.3252C>T (H1084=) - A2ML1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam ./. - - - - - - c.3252C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9013481G>A - A2ML1:NM_144670.4:c.3269G>A - A2ML1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden ./. - - - - - - c.3269G>A - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9010686C>T - A2ML1:NM_144670.4:c.3252C>T (=) - A2ML1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.3252C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9001508C>T - A2ML1:NM_144670.3:c.2026C>T (Arg676Trp) - A2ML1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.2026C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9004550G>T - A2ML1:NM_144670.3:c.2405G>T (Arg802Leu) - A2ML1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.2405G>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.8976358C>G - A2ML1:NM_144670.4:c.289C>G (Arg97Gly) - A2ML1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.289C>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.8995761A>G - A2ML1:NM_144670.4:c.1280A>G (Asn427Ser) - A2ML1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.1280A>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
A2ML1 NM_144670.4 12 Unknown g.9013481G>A - A2ML1:NM_144670.3:c.3269G>A (Gly1090Asp) - A2ML1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.3269G>A - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AAAS NM_001173466.1 12 Unknown g.53701835C>T - AAAS:c.1331+1G>A - AAAS_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc ./. - - - - - - c.1232+1G>A - - - r.spl? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
AAAS NM_001173466.1 12 Unknown g.53701835C>T - AAAS:NM_015665.5:c.1331+1G>A (?) - AAAS_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.1232+1G>A - - - r.spl? p.? - - - - - - - - - - - - - - - - - - - - - - - - - - -
AAK1 NM_014911.3 2 Both (homozygous) g.69747490_69747491del g.69520358_69520359del - - AAK1_000001 - - - - Germline - - - - - Yu Sun ?/. - - - - - - c.1210+475_1210+476del - - - - p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70286550T>A g.70252647T>A - - AARS_000008 - - - rs11537663 Germline - - - 0 - Andreas Laner -/. - - - - - - c.*74A>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70299599dup g.70265696dup - - 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 g.70265046G>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 g.70261281_70261282insCA - - AARS_000006 - - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - c.1672-125_1672-124insTG - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70293115A>G g.70259212A>G - - AARS_000005 - - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - c.1786-26T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70287177A>G g.70253274A>G - - AARS_000004 - - - rs4081753 Germline - - - 0 - Andreas Laner -/. - - - - - - c.2715T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70287177A>G g.70253274A>G - - AARS_000004 - - - rs4081753 Germline - - - 0 - Andreas Laner -/. - - - - - - c.2715T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70303580G>A g.70269677G>A - - AARS_000012 - - - rs2070203 Germline - - - 0 - Andreas Laner -/. - - - - - - c.903C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Parent #1 g.70303356G>T g.70269453G>T - - AARS_000011 - - - - Germline - - - 0 - Andreas Laner ?/. - - - - - - c.962+165C>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Both (homozygous) g.70296388C>T g.70262485C>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 g.70277088T>A - - AARS_000002 - - - - Germline - - - 0 - Heather McLaughlin +/. - - - - - 3 c.211A>T - - - r.(?) p.(Asn71Tyr) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70302259C>T g.70268356C>T - - AARS_000001 - - - - Germline - - - 0 - Heather McLaughlin +/. - - - - - 8 c.986G>A - - - r.(?) p.(Arg329His) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70288591T>G g.70254688T>G - - AARS_000003 - - - - Germline - - - 0 - Heather McLaughlin -/. - - - - - 17 c.2333A>C - - - r.(?) p.(Glu778Ala) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70287177A>G - AARS:c.2715T>C (=) - AARS_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC ./. - - - - - - c.2715T>C - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70287177A>G - AARS:c.2715T>C (=) - AARS_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen ./. - - - - - - c.2715T>C - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70302226T>C - AARS:c.1019A>G (N340S) - AARS_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC ./. - - - - - - c.1019A>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70287706G>A - AARS:c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC ./. - - - - - - c.2521-3C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70286740C>T - AARS:c.2791G>A (G931S) - AARS_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC ./. - - - - - - c.2791G>A - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70287706G>A - AARS:c.2521-3C>T - AARS_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht ./. - - - - - - c.2521-3C>T - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70286740C>T - AARS:c.2791G>A (G931S) - AARS_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht ./. - - - - - - c.2791G>A - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS NM_001605.2 16 Unknown g.70302226T>C - AARS:NM_001605.2:c.1019A>G (Asn340Ser) - AARS_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen ./. - - - - - - c.1019A>G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44275011T>C g.44307274T>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 g.44307060T>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 g.44304547G>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 g.44304587C>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 g.44304512G>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 g.44303199C>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 g.44303133C>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 g.44303031G>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 g.44313075C>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 g.44301456C>T - - AARS2_000008 - - - rs498512 Germline - - - 0 - Andreas Laner -/. - - - - - 20 c.2607G>A - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44269023T>C g.44301286T>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 g.44300634T>C - - AARS2_000015 - - - rs325008 Germline - - - 0 - Andreas Laner -/. - - - - - 21 c.2871A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Parent #1 g.44279309C>T g.44311572C>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 g.44311374A>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 g.44307458G>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 g.44304512G>A - - AARS2_000012 - - - - Germline - - - 0 - Rick Kamps +/. - - - - - 13 c.1774C>T - - - r.(?) p.(Arg592Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARS2 NM_020745.3 6 Maternal (confirmed) g.44272249G>A g.44304512G>A - - AARS2_000012 - - - - Germline - - - 0 - Rick Kamps +/. - - - - - 13 c.1774C>T - - - r.(?) p.(Arg592Trp) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113131del g.42961114del - - AARSD1_000002 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.331+78del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116291_41116296del g.42964274_42964279del - - AARSD1_000001 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.40-42_40-37del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41103938T>C g.42951921T>C - - AARSD1_000008 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.1009-27A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41106085T>C g.42954068T>C - - AARSD1_000003 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.954-290A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107705A>G g.42955688A>G - - AARSD1_000004 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.794+154T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Unknown g.41107737T>C g.42955720T>C - - AARSD1_000005 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.794+122A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113543C>G g.42961526C>G - - AARSD1_000006 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.172-175G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116234G>A g.42964217G>A - - AARSD1_000007 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.60C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113131del g.42961114del - - AARSD1_000002 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.331+78del - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41103938T>C g.42951921T>C - - AARSD1_000008 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.1009-27A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41106085T>C g.42954068T>C - - AARSD1_000003 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.954-290A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107705A>G g.42955688A>G - - AARSD1_000004 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.794+154T>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41107737T>C g.42955720T>C - - AARSD1_000005 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.794+122A>G - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41113543C>G g.42961526C>G - - AARSD1_000006 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.172-175G>C - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AARSD1 NM_001261434.1 17 Both (homozygous) g.41116234G>A g.42964217G>A - - AARSD1_000007 - - - - Germline - - - - - Yu Sun ./. - - - - - - c.60C>T - - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - - - - - -
AASS NM_005763.3 7 Both (homozygous) g.121733190G>A g.122093136G>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 g.104832587G>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>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 g.104800523T>C - - ABCA1_000002 - PubMed: Yu et al. 2000 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck ?/? - - - - - 35 c.4760A>G - - - r.(?) p.(Lys1587Arg) - - - - - - - - - - - - - - - - - - - - - - - - - - -
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