All variants affecting transcripts

7841 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     
AARS NM_001605.2 16 Unknown - g.70301616G>A - - - AARS_000001 - - ; clinvar; - - - LOVD ./. c.1168C>T p.(Arg390Cys) - - - - - - r.(?) -
AARS2 NM_020745.3 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 rs138119149 - ; clinVar; 25058219;21549344 - - LOVD +/+ c.1483C>T - missense_variant - - - 11/20 - - -
AARS2 NM_020745.3 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 - - ; - - - LOVD ./. c.647_648insG - - - - - - - - -
AARS2 NM_020745.3 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 rs387907061 - ; clinVar; 21549344;24808023 - - LOVD +/+ c.464T>G - missense_variant - - - 3/22 probably_damaging(1) - -
AARS2 NM_020745.3 6 Unknown - g.44270558G>A - - - AARS2_000004 - - ; clinvar; - - - LOVD ./. c.2054C>T - - - - - - - - -
ABCA4 NM_000350.2 1 Unknown - g.94471025C>T - - - ABCA4_000001 - - ; clinvar; - - - LOVD ./. c.6119G>A p.(Arg2040Gln) - - - - - - r.(?) -
ABCA4 NM_000350.2 1 Unknown - g.94512574G>C - - - ABCA4_000002 - - ; clinvar; - - - LOVD ./. c.2819C>G p.(Pro940Arg) - - - - - - r.(?) -
ABCA4 NM_000350.2 1 Unknown - g.94514454del - - - ABCA4_000003 - - ; clinvar; - - - LOVD ./. c.2713del p.(Glu905Argfs*27) - - - - - - r.(?) -
ABCA4 NM_000350.2 1 Unknown - g.94544208C>T - - - ABCA4_000004 - - ; clinvar; - - - LOVD ./. c.1294G>A p.(Glu432Lys) - - - - - - r.(?) -
ABCA4 NM_000350.2 1 Unknown - g.94564355G>A - - - ABCA4_000005 - - ; clinvar; - - - LOVD ./. c.763C>T p.(Arg255Cys) - - - - - - r.(?) -
ABCB11 NM_003742.2 2 Unknown - g.169779623G>A - - - ABCB11_000002 - - ; clinvar; - - - LOVD ./. c.*509C>T p.(=) - - - - - - r.(=) -
ABCB11 NM_003742.2 2 Unknown - g.169779692C>T - - - ABCB11_000001 - - ; clinvar; - - - LOVD ./. c.*440G>A p.(=) - - - - - - r.(=) -
ABCB4 NM_000443.3 7 Unknown - g.87035613C>T - - - ABCB4_000001 - - ; clinvar; - - - LOVD ./. c.3477G>A p.(=) - - - - - - r.(=) -
ABCB4 NM_000443.3 7 Unknown - g.87041227C>T - - - ABCB4_000002 - - ; clinvar; - - - LOVD ./. c.2906G>A p.(Arg969His) - - - - - - r.(?) -
ABCB4 NM_000443.3 7 Unknown - g.87069081G>C - - - ABCB4_000003 - - ; clinvar; - - - LOVD ./. c.1633C>G p.(Arg545Gly) - - - - - - r.(?) -
ABCC2 NM_000392.3 10 Unknown - g.101544490A>G - - - ABCC2_000001 - - ; clinvar; - - - LOVD ./. c.159A>G p.(=) - - - - - - r.(=) -
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.(=) -
ABCC9 NM_005691.2 12 Unknown - g.21968727G>A - - - ABCC9_000006 - - ; clinvar; - - - LOVD ./. c.3993C>T p.(=) - - - - - - r.(=) -
ABCC9 NM_005691.2 12 Unknown - g.21995261G>A - - - ABCC9_000005 - - ; clinvar; - - - LOVD ./. c.3460C>T p.(Arg1154Trp) - - - - - - r.(?) -
ABCC9 NM_005691.2 12 Unknown - g.22065965A>T - - - ABCC9_000003 - - ; clinvar; - - - LOVD ./. c.852T>A p.(=) - - - - - - r.(=) -
ABCC9 NM_005691.2 12 Unknown - g.22078862G>C - - - ABCC9_000004 - - ; clinvar; - - - LOVD ./. c.406+14C>G p.(=) - - - - - - r.(=) -
ABCG5 NM_022436.2 2 Unknown - g.44059195G>C - - - ABCG5_000001 - - ; clinvar; - - - LOVD ./. c.293C>G p.(Ala98Gly) - - - - - - r.(?) -
ACAD8 NM_014384.2 11 Unknown - g.134132528C>T - - - ACAD8_000005 - - ; clinvar; - - - LOVD ./. c.*2561C>T - - - - - - - - -
ACAD8 NM_014384.2 11 Unknown - g.134134839C>T - - - ACAD8_000006 - - ; clinvar; - - - LOVD ./. c.*2066C>T - - - - - - - - -
ACAD8 NM_014384.2 11 Unknown - g.134135022G>A - - - ACAD8_000001 - - ; clinvar; - - - LOVD ./. c.*168G>A - - - - - - - - -
ACAD8 NM_014384.2 11 Unknown - g.134135092G>C - - - ACAD8_000002 - - ; clinvar; - - - LOVD ./. c.*2319G>C - - - - - - - - -
ACAD8 NM_014384.2 11 Unknown - g.134135462G>A - - - ACAD8_000003 - - ; clinvar; - - - LOVD ./. c.*2689G>A - - - - - - - - -
ACAD8 NM_014384.2 11 Unknown - g.134135506C>G - - - ACAD8_000004 - - ; clinvar; - - - LOVD ./. c.*2733C>G - - - - - - - - -
ACAD9 NM_014049.4 3 Unknown ins g.128598490_128598491insTAAG - - - ACAD9_000006 rs387906242 - ; clinVar; 17564966 - - LOVD +?/+? c.-45_-44insTAAG - 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 - - - - - - - - -
ACAD9 NM_014049.4 3 Unknown subst g.128598664T>A - 5.610 - ACAD9_000008 rs387907041 - ; clinVar; 21057504 - - LOVD +/+ c.130T>A - missense_variant,NMD_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 - missense_variant - - - 7/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128622922G>A - 5.540 - ACAD9_000001 rs115532916 - ; clinVar; 21057504 - - LOVD +/+ c.976G>A - missense_variant - - - 10/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128622922G>C - 5.540 - ACAD9_000002 rs115532916 - ; 21057504 - - LOVD ./. c.976G>C - missense_variant - - - 10/18 - - -
ACAD9 NM_014049.4 3 Unknown subst g.128625063C>T - 4.770 - ACAD9_000003 rs368949613 - ; clinVar; 21057504 - - LOVD +/+ c.1249C>T - missense_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 - missense_variant - - - 16/18 - - -
ACADL NM_001608.3 2 Unknown - g.211052757T>C - - - ACADL_000002 - - ; clinvar; - - - LOVD ./. c.*928A>G - - - - - - - - -
ACADL NM_001608.3 2 Unknown - g.211060055T>C - - - ACADL_000003 - - ; clinvar; - - - LOVD ./. c.929A>G - - - - - - - - -
ACADL NM_001608.3 2 Unknown subst g.211060050T>G - 5.770 - ACADL_000001 rs2286963 - ; Ensembl; 24591516 - - LOVD ?/? c.934A>C p.(Lys312Gln) missense_variant - - - 9/11 - - -
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(0.31)
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(0.03)
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_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)
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(0.966) - 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(0.997) - 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_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_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(0.99) - 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(0.998) - deleterious(0)
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) - -
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_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)
ACADS NM_000017.2 12 Unknown subst g.121175696T>C - 5.160 - ACADS_000011 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.473-156T>C p.(=) missense_variant - - - 5/10 probably_damaging(0.988) - -
ACADS NM_000017.2 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; ensembl; 9499414 - - LOVD ./. c.473-156T>G p.(=) missense_variant - - - 5/10 probably_damaging(0.961) - -
ACADS NM_000017.2 12 Unknown subst g.121175742C>T - 4.950 - ACADS_000001 rs28940874 - ; ensembl; 11134486 - - LOVD ./. c.473-110C>T p.(=) missense_variant - - - 5/10 probably_damaging(0.968) - -
ACADS NM_000017.2 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.121177150C>T - 3.840 - ACADS_000006 rs28940875 - ; ensembl; 11134486 - - LOVD ./. c.1126C>T p.(Arg376Trp) missense_variant - - - 10/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121177159C>T - 4.740 - ACADS_000007 rs28940872 - ; ensembl; 11134486;9499414 - - LOVD ./. c.1135C>T p.(Arg379Cys) missense_variant - - - 10/10 probably_damaging(1) - deleterious(0)
ACADS NM_000017.2 12 Unknown subst g.121175696T>G - 5.160 - ACADS_000018 rs57443665 - ; clinvar; 9499414 - - LOVD +/+ c.473-156T>G p.(=) missense_variant - - - 5/10 probably_damaging(0.961) - -
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 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 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 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 NM_000017.2 12 Unknown del g.121174885_121174887del - - - ACADS_000012 rs387906308 - ; 11134486 - - LOVD ?/? c.307_309del p.(Glu104del) - - - - - - - -
ACADS NM_000017.2 12 Unknown del g.121174888_121174890del - - - ACADS_000013 - - ; - - - LOVD ?/? c.310_312del p.(Glu104del) - - - - - - - -
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 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 NM_000017.2 12 Unknown subst g.121175678C>T - 2.100 - ACADS_000010 rs1800556 - ; clinvar; 9499414;11134486;19800078 - - LOVD +/+ c.473-174C>T p.(=) missense_variant - - - 5/10 benign(0.006) - -
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 NM_000017.2 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 benign(0.342) - deleterious(0.01)
ACADS NM_000017.2 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.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.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 NM_000017.2 12 Unknown subst g.121177150C>T - 3.840 - ACADS_000006 rs28940875 - ; clinvar; 11134486 - - LOVD +/+ c.1126C>T p.(Arg376Trp) missense_variant - - - 10/10 probably_damaging(1) - -
ACADS NM_000017.2 12 Unknown subst g.121177159C>T - 4.740 - ACADS_000007 rs28940872 - ; clinvar; 11134486;9499414 - - LOVD +/+ c.1135C>T p.(Arg379Cys) missense_variant - - - 10/10 probably_damaging(1) - -
ACADVL NM_000018.3 17 Unknown subst g.7123340C>T - 4.880 - ACADVL_000039 rs63750670 - ; Ensembl; - - - LOVD ?/? c.-267C>T p.(=) stop_gained,NMD_transcript_variant - - - 1/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7125522C>T - 4.250 - ACADVL_000014 rs113994168 - ; ensembl; 20301763 - - LOVD ./. c.551C>T p.(Thr184Met) missense_variant - - - 10/21 - - -
ACADVL NM_000018.3 17 Unknown subst g.7125591T>C - 5.220 - ACADVL_000016 rs113994167 - ; ensembl; 20301763;17374501;23757202;8845838 - - LOVD ./. c.620T>C p.(Val207Ala) missense_variant - - - 10/21 - - -
ACADVL NM_000018.3 17 Unknown subst g.7126518A>C - 5.620 - ACADVL_000020 rs118204015 - ; ensembl; 8554073 - - LOVD ./. c.1078A>C p.(Lys306Gln) missense_variant - - - 10/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127006C>T - 2.640 - ACADVL_000021 rs113994169 - ; ensembl; 20301763 - - LOVD ./. c.1160C>T p.(Thr333Met) missense_variant - - - 11/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127184G>A - 5.770 - ACADVL_000003 rs2309689 - ; ensembl; 20301763;20060901;9546340;23757202;8845838 - - LOVD ./. c.1094G>A p.(Gly365Asp) missense_variant - - - 12/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127303G>A - 4.760 - ACADVL_000005 rs118204016 - ; ensembl; 11158518 - - LOVD ./. c.1121G>A p.(Arg374His) missense_variant - - - 13/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127326T>C - 5.740 - ACADVL_000006 rs118204017 - ; ensembl; 9709714 - - LOVD ./. c.1144T>C p.(Phe382Leu) missense_variant - - - 13/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7125285G>C - 5.730 - ACADVL_000035 rs140629318 - ; Ensembl; - - - LOVD ?/? c.409G>C p.(Ala137Pro) missense_variant - - - 7/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127359C>T - 3.550 - ACADVL_000007 rs113994170 - ; ensembl; 20301763 - - LOVD ./. c.1177C>T p.(Arg393Trp) missense_variant - - - 13/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127707G>A - 0.640 - ACADVL_000008 rs2230180 - ; ensembl; 23757202;20301763 - - LOVD ./. c.1372G>A p.(Glu458Lys) missense_variant - - - 15/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127955G>A - 1.580 - ACADVL_000009 rs113994171 - ; ensembl; 20301763 - - LOVD ./. c.1451-6G>A p.(=) - - - - - - - -
ACADVL NM_000018.3 17 Unknown subst g.7128285C>T - 5.740 - ACADVL_000010 rs118204014 - ; ensembl; 8554073 - - LOVD ./. c.1609C>T p.(Arg537Trp) missense_variant - - - 19/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7125988G>A - 5.090 - ACADVL_000036 rs200573371 - ; Ensembl; - - - LOVD ?/? c.653G>A p.(Gly218Glu) missense_variant,splice_region_variant - - - 10/20 - - -
ACADVL NM_000018.3 17 Unknown subst g.7126471G>A - 4.660 - ACADVL_000037 rs112406105 - ; Ensembl; - - - LOVD ?/? c.1031G>A p.(Arg290His) missense_variant - - - 10/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7126471G>C - 4.660 - ACADVL_000038 rs112406105 - ; Ensembl; - - - LOVD ?/? c.1031G>C p.(Arg290Pro) missense_variant - - - 10/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127312G>A - 5.740 - ACADVL_000032 rs138058572 - ; Ensembl; - - - LOVD ?/? c.1130G>A p.(Arg377Gln) missense_variant - - - 13/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7127342G>A - 5.740 - ACADVL_000033 rs200366828 - ; Ensembl; - - - LOVD ?/? c.1160G>A p.(Gly387Glu) missense_variant - - - 13/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7128292G>A - 0.885 - ACADVL_000034 rs148584617 - ; Ensembl; - - - LOVD ?/? c.1616G>A p.(Arg539Gln) missense_variant - - - 19/19 - - -
ACADVL NM_000018.3 17 Unknown subst g.7123352C>T - -4.660 - ACADVL_000030 rs2230179 - ; clinvar; 20301763 - - LOVD -/- c.-255C>T p.(=) missense_variant,NMD_transcript_variant - - - 1/19 unknown(0) - -
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