View all variants affecting transcripts

7814 entries on 79 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     

Effect     

DNA change (cDNA)     

Protein     

GVS function     

Splice distance     

Position     

Location     

Exon     

PolyPhen     

RNA change     

SIFT     
AARS2 NM_020745.3 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 rs138119149 - ; clinVar; 25058219;21549344 - - LOVD +/+ c.1774C>T p.(Arg592Trp) missense_variant - - - 13/22 possibly_damaging(0.806) r.(?) deleterious(0)
AARS2 XM_005249245.1 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 rs138119149 - ; clinVar; 25058219;21549344 - - LOVD +/+ c.1483C>T p.(Arg495Trp) missense_variant - - - 11/20 - r.(?) -
AARS2 XR_241907.1 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 rs138119149 - ; clinVar; 25058219;21549344 - - LOVD +/+ n.1808C>T - - - - - - - - -
AARS2 NM_020745.3 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 - - ; - - - LOVD ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 XM_005249245.1 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 - - ; - - - LOVD ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 XR_241907.1 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 - - ; - - - LOVD ./. n.681_682insG - - - - - - - - -
AARS2 NM_020745.3 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 rs387907061 - ; clinVar; 21549344;24808023 - - LOVD +/+ c.464T>G p.(Leu155Arg) missense_variant - - - 3/22 probably_damaging(1) r.(?) deleterious(0)
AARS2 XM_005249245.1 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 rs387907061 - ; clinVar; 21549344;24808023 - - LOVD +/+ c.464T>G p.(Leu155Arg) missense_variant - - - 3/22 probably_damaging(1) r.(?) deleterious(0)
AARS2 XR_241907.1 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 rs387907061 - ; clinVar; 21549344;24808023 - - LOVD +/+ n.498T>G - - - - - - - - -
ABCC8 NM_000352.3 11 Unknown subst g.17417462G>A - 5.060 - ABCC8_000001 rs137852673 - ; clinvar; 18025464;16885549 - - LOVD +?/+? c.4135C>T p.(Arg1379Cys) missense_variant - - - 34/39 probably_damaging(1) r.(?) deleterious(0)
ABCC8 NM_000352.3 11 Unknown subst g.17417462G>T - 5.060 - ABCC8_000002 rs137852673 - ; clinvar; 18025464;16885549 - - LOVD +?/+? c.4135C>A p.(Arg1379Ser) missense_variant - - - 34/39 probably_damaging(1) r.(?) deleterious(0)
ABCC8 NM_000352.3 11 Unknown subst g.17452434G>C - 5.460 - ABCC8_000003 rs137852674 - ; clinVar; Ensembl; 16885549 - - LOVD +/+ c.1744C>G p.(Leu582Val) missense_variant - - - 12/39 possibly_damaging(0.842) r.(?) tolerated(0.08)
ABCC9 NM_005691.2 12 Unknown subst g.21954091C>T - 4.880 - ABCC9_000001 rs121909304 - ; clinvar; 15034580 - - LOVD +/+ c.*4017G>A p.(=) - - - - - - r.(=) -
ABCC9 NM_005691.2 12 Unknown subst g.22005422G>A - 1.470 - ABCC9_000002 rs144537241 - ; clinvar; 20474083 - - LOVD -?/-? c.2523C>T p.(=) synonymous_variant - - - 21/38 - r.(=) -
ACAD9 NM_014049.4 3 Unknown ins g.128598490_128598491insTAAG - - - ACAD9_000006 rs387906242 - ; clinVar; 17564966 - - LOVD +?/+? c.-45_-44insTAAG p.(=) - - - - - - - -
ACAD9 NR_033426.1 3 Unknown ins g.128598490_128598491insTAAG - - - ACAD9_000006 rs387906242 - ; clinVar; 17564966 - - LOVD +?/+? n.158_159insTAAG - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 1/18 - - -
ACAD9 NM_014049.4 3 Unknown ins g.128598494_128598495insTAAG - - - ACAD9_000007 - - ; - - - LOVD ?/? c.-41_-40insTAAG p.(=) - - - - - - - -
ACAD9 NR_033426.1 3 Unknown ins g.128598494_128598495insTAAG - - - ACAD9_000007 - - ; - - - LOVD ?/? n.162_163insTAAG - - - - - - - - -
ACAD9 NM_014049.4 3 Unknown subst g.128598664T>A - 5.610 - ACAD9_000008 rs387907041 - ; clinVar; 21057504 - - LOVD +/+ c.130T>A p.(Phe44Ile) missense_variant,NMD_transcript_variant - - - 1/7 probably_damaging(0.91) - tolerated(0.08)
ACAD9 NR_033426.1 3 Unknown subst g.128598664T>A - 5.610 - ACAD9_000008 rs387907041 - ; clinVar; 21057504 - - LOVD +/+ n.332T>A - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 1/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128618293G>A - 5.320 - ACAD9_000005 rs387907042 - ; clinVar; 21057504 - - LOVD +/+ c.797G>A p.(Arg266Gln) missense_variant - - - 7/18 probably_damaging(0.942) - deleterious(0.01)
ACAD9 NR_033426.1 3 Unknown subst g.128618293G>A - 5.320 - ACAD9_000005 rs387907042 - ; clinVar; 21057504 - - LOVD +/+ n.1175G>A - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 7/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128622922G>A - 5.540 - ACAD9_000001 rs115532916 - ; clinVar; 21057504 - - LOVD +/+ c.976G>A p.(Ala326Thr) missense_variant - - - 10/18 probably_damaging(0.968) - deleterious(0)
ACAD9 NR_033426.1 3 Unknown subst g.128622922G>A - 5.540 - ACAD9_000001 rs115532916 - ; clinVar; 21057504 - - LOVD +/+ n.1354G>A - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 10/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128622922G>C - 5.540 - ACAD9_000002 rs115532916 - ; 21057504 - - LOVD ./. c.976G>C p.(Ala326Pro) missense_variant - - - 10/18 probably_damaging(0.997) - deleterious(0)
ACAD9 NR_033426.1 3 Unknown subst g.128622922G>C - 5.540 - ACAD9_000002 rs115532916 - ; 21057504 - - LOVD ./. n.1354G>C - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 10/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128625063C>T - 4.770 - ACAD9_000003 rs368949613 - ; clinVar; 21057504 - - LOVD +/+ c.1249C>T p.(Arg417Cys) missense_variant - - - 12/18 probably_damaging(1) - deleterious(0)
ACAD9 NR_033426.1 3 Unknown subst g.128625063C>T - 4.770 - ACAD9_000003 rs368949613 - ; clinVar; 21057504 - - LOVD +/+ n.1627C>T - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 12/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128628894C>T - 1.830 - ACAD9_000004 rs377022708 - ; clinVar; 21057504;22499348 - - LOVD +/+ c.1594C>T p.(Arg532Trp) missense_variant - - - 16/18 probably_damaging(0.995) - deleterious(0)
ACAD9 NR_033426.1 3 Unknown subst g.128628894C>T - 1.830 - ACAD9_000004 rs377022708 - ; clinVar; 21057504;22499348 - - LOVD +/+ n.1972C>T - non_coding_transcript_exon_variant,non_coding_transcript_variant - - - 16/18 - - -
ACADL XM_005246517.1 2 Unknown subst g.211060050T>G - 5.770 - ACADL_000001 rs2286963 - ; Ensembl; 24591516 - - LOVD ?/? c.934A>C p.(Lys312Gln) missense_variant - - - 9/11 - - -
ACADL NM_001608.3 2 Unknown subst g.211060050T>G - 5.770 - ACADL_000001 rs2286963 - ; Ensembl; 24591516 - - LOVD ?/? c.997A>C p.(Lys333Gln) missense_variant - - - 9/11 probably_damaging(0.965) - tolerated(0.06)
ACADM NM_001127328.1 1 Unknown subst g.76198409T>C - 4.450 - ACADM_000012 rs121434280 - ; clinvar; 18241067;11409868;11349232;15479234 - - LOVD +/+ c.211T>C p.(Tyr71His) missense_variant - - - 3/12 benign(0.055) - tolerated(0.31)
ACADM NM_000016.4 1 Unknown subst g.76198409T>C - 4.450 - ACADM_000012 rs121434280 - ; clinvar; 18241067;11409868;11349232;15479234 - - LOVD +/+ c.199T>C p.(Tyr67His) missense_variant - - - 3/12 benign(0.037) - tolerated(0.32)
ACADM NM_001127328.1 1 Unknown subst g.76199288C>T - 5.690 - ACADM_000001 rs121434283 - ; clinvar; 11349232;17273963 - - LOVD +/+ c.374C>T p.(Thr125Ile) missense_variant - - - 5/12 possibly_damaging(0.454) - deleterious(0.03)
ACADM NM_000016.4 1 Unknown subst g.76199288C>T - 5.690 - ACADM_000001 rs121434283 - ; clinvar; 11349232;17273963 - - LOVD +/+ c.362C>T p.(Thr121Ile) missense_variant - - - 5/12 benign(0.373) - deleterious(0.04)
ACADM NM_001127328.1 1 Unknown subst g.76200535G>A - 5.630 - ACADM_000002 rs121434277 - ; clinvar; 1684086 - - LOVD +/+ c.459G>A p.(Met153Ile) missense_variant - - - 6/12 benign(0.013) - deleterious(0.05)
ACADM NM_000016.4 1 Unknown subst g.76200535G>A - 5.630 - ACADM_000002 rs121434277 - ; clinvar; 1684086 - - LOVD +/+ c.447G>A p.(Met149Ile) missense_variant - - - 6/12 benign(0.013) - deleterious(0.05)
ACADM NM_001127328.1 1 Unknown subst g.76205773A>G - 5.460 - ACADM_000003 rs121434279 - ; clinvar; 9158144;9882619 - - LOVD +/+ c.589A>G p.(Thr197Ala) missense_variant - - - 7/12 probably_damaging(0.966) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76205773A>G - 5.460 - ACADM_000003 rs121434279 - ; clinvar; 9158144;9882619 - - LOVD +/+ c.577A>G p.(Thr193Ala) missense_variant - - - 7/12 probably_damaging(0.992) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76205779G>A - 5.460 - ACADM_000004 rs121434278 - ; clinvar; 23757202;7929823;18241067 - - LOVD +/+ c.595G>A p.(Gly199Arg) missense_variant - - - 7/12 probably_damaging(0.997) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76205779G>A - 5.460 - ACADM_000004 rs121434278 - ; clinvar; 23757202;7929823;18241067 - - LOVD +/+ c.583G>A p.(Gly195Arg) missense_variant - - - 7/12 probably_damaging(0.999) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76215125T>C - 5.860 - ACADM_000005 rs121434276 - ; clinvar; 1684086 - - LOVD +/+ c.742T>C p.(Cys248Arg) missense_variant - - - 9/12 probably_damaging(0.997) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76215125T>C - 5.860 - ACADM_000005 rs121434276 - ; clinvar; 1684086 - - LOVD +/+ c.730T>C p.(Cys244Arg) missense_variant - - - 9/12 probably_damaging(0.98) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76215129C>T - 5.860 - ACADM_000006 rs121434281 - ; clinvar; 11409868;23757202 - - LOVD +/+ c.746C>T p.(Ser249Leu) missense_variant - - - 9/12 probably_damaging(0.998) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76215129C>T - 5.860 - ACADM_000006 rs121434281 - ; clinvar; 11409868;23757202 - - LOVD +/+ c.734C>T p.(Ser245Leu) missense_variant - - - 9/12 probably_damaging(0.995) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76215194G>A - 5.730 - ACADM_000007 rs121434274 - ; clinvar; 1684086 - - LOVD +/+ c.811G>A p.(Gly271Arg) missense_variant - - - 9/12 probably_damaging(0.99) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76215194G>A - 5.730 - ACADM_000007 rs121434274 - ; clinvar; 1684086 - - LOVD +/+ c.799G>A p.(Gly267Arg) missense_variant - - - 9/12 probably_damaging(0.994) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76215237G>C - 5.730 - ACADM_000008 rs121434282 - ; clinvar; 11486912 - - LOVD +/+ c.854G>C p.(Arg285Thr) missense_variant - - - 9/12 probably_damaging(0.998) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76215237G>C - 5.730 - ACADM_000008 rs121434282 - ; clinvar; 11486912 - - LOVD +/+ c.842G>C p.(Arg281Thr) missense_variant - - - 9/12 probably_damaging(0.999) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; clinvar; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD ./. c.997A>G p.(Lys333Glu) - - - - - - - -
ACADM NM_000016.4 1 Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; clinvar; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD +/+ c.985A>G p.(Lys329Glu) missense_variant - - - 11/12 benign(0.073) - tolerated(0.31)
ACADM NM_001127328.1 1 Unknown del g.76226963_76226966del - - - ACADM_000010 rs387906297 - ; clinvar; 1729890;1356169;23757202 - - LOVD +/+ c.1114_1117del p.(Ala373Leufs*18) - - - - - - - -
ACADM NM_000016.4 1 Unknown del g.76226963_76226966del - - - ACADM_000010 rs387906297 - ; clinvar; 1729890;1356169;23757202 - - LOVD +/+ c.1102_1105del p.(Ala369Leufs*18) - - - - - - - -
ACADM NM_001127328.1 1 Unknown subst g.76226985T>C - 5.210 - ACADM_000011 rs121434275 - ; clinvar; 1684086 - - LOVD +/+ c.1136T>C p.(Ile379Thr) missense_variant - - - 11/12 probably_damaging(0.996) - deleterious(0)
ACADM NM_000016.4 1 Unknown subst g.76226985T>C - 5.210 - ACADM_000011 rs121434275 - ; clinvar; 1684086 - - LOVD +/+ c.1124T>C p.(Ile375Thr) missense_variant - - - 11/12 probably_damaging(0.975) - deleterious(0)
ACADM NM_001127328.1 1 Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; ensembl; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD ./. c.997A>G p.(Lys333Glu) missense_variant - - - 11/12 benign(0.164) - tolerated(0.31)
ACADM NM_000016.4 1 Unknown subst g.76226846A>G - 5.210 - ACADM_000009 rs77931234 - ; ensembl; 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23 - - LOVD ./. c.985A>G p.(Lys329Glu) missense_variant - - - 11/12 benign(0.073) - tolerated(0.31)
ACADS XM_005253878.1 12 Unknown subst g.121164918C>T - 3.560 - ACADS_000017 rs121908003 - ; clinvar; 2808706 - - LOVD +/+ c.136C>T p.(Arg46Trp) missense_variant - - - 2/10 probably_damaging(0.982) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121164918C>T - 3.560 - ACADS_000017 rs121908003 - ; clinvar; 2808706 - - LOVD +/+ c.136C>T p.(Arg46Trp) missense_variant - - - 2/10 probably_damaging(0.982) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121164946C>T - 4.460 - ACADS_000015 rs147442301 - ; clinvar; 20376488 - - LOVD +/+ c.164C>T p.(Pro55Leu) missense_variant - - - 2/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121164946C>T - 4.460 - ACADS_000015 rs147442301 - ; clinvar; 20376488 - - LOVD +/+ c.164C>T p.(Pro55Leu) missense_variant - - - 2/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121174846G>A - 4.860 - ACADS_000016 rs121908005 - ; clinvar; 11134486 - - LOVD +/+ c.268G>A p.(Gly90Ser) missense_variant - - - 3/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121174846G>A - 4.860 - ACADS_000016 rs121908005 - ; clinvar; 11134486 - - LOVD +/+ c.268G>A p.(Gly90Ser) missense_variant - - - 3/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121174852G>T - 3.960 - ACADS_000014 rs121908004 - ; clinvar; 9499414 - - LOVD +/+ c.274G>T p.(Gly92Cys) missense_variant - - - 3/10 probably_damaging(0.932) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121174852G>T - 3.960 - ACADS_000014 rs121908004 - ; clinvar; 9499414 - - LOVD +/+ c.274G>T p.(Gly92Cys) missense_variant - - - 3/10 probably_damaging(0.932) - deleterious(0)
ACADS XM_005253878.1 12 Unknown del g.121174885_121174887del - - - ACADS_000012 rs387906308 - ; 11134486 - - LOVD ?/? c.307_309del p.(Glu104del) - - - - - - - -
ACADS NM_000017.2 12 Unknown del g.121174885_121174887del - - - ACADS_000012 rs387906308 - ; 11134486 - - LOVD ?/? c.307_309del p.(Glu104del) - - - - - - - -
ACADS XM_005253878.1 12 Unknown del g.121174888_121174890del - - - ACADS_000013 - - ; - - - LOVD ?/? c.310_312del p.(Glu104del) - - - - - - - -
ACADS NM_000017.2 12 Unknown del g.121174888_121174890del - - - ACADS_000013 - - ; - - - LOVD ?/? c.310_312del p.(Glu104del) - - - - - - - -
ACADS XM_005253878.1 12 Unknown subst g.121174897C>T - 3.880 - ACADS_000008 rs61732144 - ; clinvar; 18054510;2808706 - - LOVD +/+ c.319C>T p.(Arg107Cys) missense_variant - - - 3/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121174897C>T - 3.880 - ACADS_000008 rs61732144 - ; clinvar; 18054510;2808706 - - LOVD +/+ c.319C>T p.(Arg107Cys) missense_variant - - - 3/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121174901G>A - 3.950 - ACADS_000009 rs387906951 - ; clinvar; 20376488 - - LOVD +/+ c.323G>A p.(Gly108Asp) missense_variant - - - 3/10 probably_damaging(0.999) - tolerated(0.2)
ACADS NM_000017.2 12 Unknown subst g.121174901G>A - 3.950 - ACADS_000009 rs387906951 - ; clinvar; 20376488 - - LOVD +/+ c.323G>A p.(Gly108Asp) missense_variant - - - 3/10 probably_damaging(0.999) - tolerated(0.2)
ACADS XM_005253878.1 12 Unknown subst g.121175678C>T - 2.100 - ACADS_000010 rs1800556 - ; clinvar; 9499414;11134486;19800078 - - LOVD +/+ c.473-174C>T p.(=) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121175678C>T - 2.100 - ACADS_000010 rs1800556 - ; clinvar; 9499414;11134486;19800078 - - LOVD +/+ c.511C>T p.(Arg171Trp) missense_variant - - - 5/10 benign(0.006) - deleterious(0.02)
ACADS NM_000017.2 12 Unknown subst g.121175696T>C - 5.160 - ACADS_000011 rs57443665 - ; clinvar; 9499414 - - LOVD +/+ c.529T>C p.(Trp177Arg) missense_variant - - - 5/10 probably_damaging(0.988) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121175742C>T - 4.950 - ACADS_000001 rs28940874 - ; clinvar; 11134486 - - LOVD +/+ c.575C>T p.(Ala192Val) missense_variant - - - 5/10 probably_damaging(0.968) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121176083G>A - 4.640 - ACADS_000002 rs1799958 - ; clinvar; 19800078;11134486;23757202 - - LOVD -/- c.613G>A p.(Gly205Ser) missense_variant,splice_region_variant - - - 6/10 possibly_damaging(0.757) - deleterious(0.01)
ACADS NM_000017.2 12 Unknown subst g.121176083G>A - 4.640 - ACADS_000002 rs1799958 - ; clinvar; 19800078;11134486;23757202 - - LOVD -/- c.625G>A p.(Gly209Ser) missense_variant,splice_region_variant - - - 6/10 benign(0.342) - deleterious(0.02)
ACADS XM_005253878.1 12 Unknown subst g.121176662C>T - 4.630 - ACADS_000003 rs121908006 - ; clinvar; 11134486 - - LOVD +/+ c.961C>T p.(Arg321Trp) missense_variant - - - 8/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121176662C>T - 4.630 - ACADS_000003 rs121908006 - ; clinvar; 11134486 - - LOVD +/+ c.973C>T p.(Arg325Trp) missense_variant - - - 8/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121176944A>G - 4.730 - ACADS_000004 rs387906950 - ; clinvar; 20376488 - - LOVD +/+ c.1019A>G p.(Glu340Gly) missense_variant,splice_region_variant - - - 9/10 probably_damaging(0.977) - deleterious(0.01)
ACADS NM_000017.2 12 Unknown subst g.121176944A>G - 4.730 - ACADS_000004 rs387906950 - ; clinvar; 20376488 - - LOVD +/+ c.1031A>G p.(Glu344Gly) missense_variant,splice_region_variant - - - 9/10 probably_damaging(1) - deleterious(0.01)
ACADS NM_000017.2 12 Unknown subst g.121176971C>T - 4.730 - ACADS_000005 rs28941773 - ; clinvar; 11134486 - - LOVD +/+ c.1058C>T p.(Ser353Leu) missense_variant - - - 9/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121177150C>T - 3.840 - ACADS_000006 rs28940875 - ; clinvar; 11134486 - - LOVD ./. c.1126C>T p.(Arg376Trp) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121177150C>T - 3.840 - ACADS_000006 rs28940875 - ; clinvar; 11134486 - - LOVD +/+ c.1138C>T p.(Arg380Trp) missense_variant - - - 10/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121177159C>T - 4.740 - ACADS_000007 rs28940872 - ; clinvar; 11134486;9499414 - - LOVD ./. c.1135C>T p.(Arg379Cys) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121177159C>T - 4.740 - ACADS_000007 rs28940872 - ; clinvar; 11134486;9499414 - - LOVD +/+ c.1147C>T p.(Arg383Cys) missense_variant - - - 10/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; clinvar; 9499414 - - LOVD ./. c.473-156T>G p.(=) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; clinvar; 9499414 - - LOVD +/+ c.529T>G p.(Trp177Gly) missense_variant - - - 5/10 probably_damaging(0.961) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121175696T>C - 5.160 - ACADS_000011 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.473-156T>C p.(=) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121175696T>C - 5.160 - ACADS_000011 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.529T>C p.(Trp177Arg) missense_variant - - - 5/10 probably_damaging(0.988) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.473-156T>G p.(=) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.529T>G p.(Trp177Gly) missense_variant - - - 5/10 probably_damaging(0.961) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121175742C>T - 4.950 - ACADS_000001 rs28940874 - ; ensembl; 11134486 - - LOVD ./. c.473-110C>T p.(=) - - - - - - - -
ACADS NM_000017.2 12 Unknown subst g.121175742C>T - 4.950 - ACADS_000001 rs28940874 - ; ensembl; 11134486 - - LOVD ./. c.575C>T p.(Ala192Val) missense_variant - - - 5/10 probably_damaging(0.968) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121176971C>T - 4.730 - ACADS_000005 rs28941773 - ; ensembl; 11134486 - - LOVD ./. c.1046C>T p.(Ser349Leu) missense_variant - - - 9/10 probably_damaging(0.999) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121176971C>T - 4.730 - ACADS_000005 rs28941773 - ; ensembl; 11134486 - - LOVD ./. c.1058C>T p.(Ser353Leu) missense_variant - - - 9/10 probably_damaging(1) - deleterious(0)
ACADS XM_005253878.1 12 Unknown subst g.121177150C>T - 3.840 - ACADS_000006 rs28940875 - ; ensembl; 11134486 - - LOVD ./. c.1126C>T p.(Arg376Trp) missense_variant - - - 10/10 probably_damaging(1) - deleterious(0)
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