Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.70758154A>GCA2609526191ADAMTS14c.3068-21A>G (n.3068-21A>G)
c.3077-21A>G (n.3077-21A>G)
c.2567-21A>G (n.2567-21A>G)
c.2141-21A>G (n.2141-21A>G)
c.1637-21A>G (n.1637-21A>G)
gnomAD v4
10g.70758158C=CA1918399697ADAMTS14c.3068-17C= (n.3068-17C=)
c.3077-17C= (n.3077-17C=)
c.2567-17C= (n.2567-17C=)
c.2141-17C= (n.2141-17C=)
c.1637-17C= (n.1637-17C=)
10g.70758158C>TCA5540330ADAMTS14c.3068-17C>T (n.3068-17C>T)
c.3077-17C>T (n.3077-17C>T)
c.2567-17C>T (n.2567-17C>T)
c.2141-17C>T (n.2141-17C>T)
c.1637-17C>T (n.1637-17C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758162T>CCA2609526194ADAMTS14c.3068-13T>C (n.3068-13T>C)
c.3077-13T>C (n.3077-13T>C)
c.2567-13T>C (n.2567-13T>C)
c.2141-13T>C (n.2141-13T>C)
c.1637-13T>C (n.1637-13T>C)
gnomAD v4
10g.70758163T>CCA2609526196ADAMTS14c.3068-12T>C (n.3068-12T>C)
c.3077-12T>C (n.3077-12T>C)
c.2567-12T>C (n.2567-12T>C)
c.2141-12T>C (n.2141-12T>C)
c.1637-12T>C (n.1637-12T>C)
gnomAD v4
10g.70758168C>ACA2609526197ADAMTS14c.3068-7C>A (n.3068-7C>A)
c.3077-7C>A (n.3077-7C>A)
c.2567-7C>A (n.2567-7C>A)
c.2141-7C>A (n.2141-7C>A)
c.1637-7C>A (n.1637-7C>A)
gnomAD v4
10g.70758170C>TCA2609526198ADAMTS14c.3068-5C>T (n.3068-5C>T)
c.3077-5C>T (n.3077-5C>T)
c.2567-5C>T (n.2567-5C>T)
c.2141-5C>T (n.2141-5C>T)
c.1637-5C>T (n.1637-5C>T)
gnomAD v4
10g.70758172C=CA1918399698ADAMTS14c.3068-3C= (n.3068-3C=)
c.3077-3C= (n.3077-3C=)
c.2567-3C= (n.2567-3C=)
c.2141-3C= (n.2141-3C=)
c.1637-3C= (n.1637-3C=)
10g.70758172C>TCA1918399699ADAMTS14c.3068-3C>T (n.3068-3C>T)
c.3077-3C>T (n.3077-3C>T)
c.2567-3C>T (n.2567-3C>T)
c.2141-3C>T (n.2141-3C>T)
c.1637-3C>T (n.1637-3C>T)
dbSNP
10g.70758173A=CA1918399700ADAMTS14c.3068-2A= (n.3068-2A=)
c.3077-2A= (n.3077-2A=)
c.2567-2A= (n.2567-2A=)
c.2141-2A= (n.2141-2A=)
c.1637-2A= (n.1637-2A=)
10g.70758173A>CCA377109047ADAMTS14c.3068-2A>C (n.3068-2A>C)
c.3077-2A>C (n.3077-2A>C)
c.2567-2A>C (n.2567-2A>C)
c.2141-2A>C (n.2141-2A>C)
c.1637-2A>C (n.1637-2A>C)
10g.70758173A>GCA377109046ADAMTS14c.3068-2A>G (n.3068-2A>G)
c.3077-2A>G (n.3077-2A>G)
c.2567-2A>G (n.2567-2A>G)
c.2141-2A>G (n.2141-2A>G)
c.1637-2A>G (n.1637-2A>G)
dbSNP gnomAD v4
10g.70758173A>TCA377109045ADAMTS14c.3068-2A>T (n.3068-2A>T)
c.3077-2A>T (n.3077-2A>T)
c.2567-2A>T (n.2567-2A>T)
c.2141-2A>T (n.2141-2A>T)
c.1637-2A>T (n.1637-2A>T)
10g.70758174G>ACA377109048ADAMTS14c.3068-1G>A (n.3068-1G>A)
c.3077-1G>A (n.3077-1G>A)
c.2567-1G>A (n.2567-1G>A)
c.2141-1G>A (n.2141-1G>A)
c.1637-1G>A (n.1637-1G>A)
10g.70758174G>CCA377109050ADAMTS14c.3068-1G>C (n.3068-1G>C)
c.3077-1G>C (n.3077-1G>C)
c.2567-1G>C (n.2567-1G>C)
c.2141-1G>C (n.2141-1G>C)
c.1637-1G>C (n.1637-1G>C)
10g.70758174G>TCA377109049ADAMTS14c.3068-1G>T (n.3068-1G>T)
c.3077-1G>T (n.3077-1G>T)
c.2567-1G>T (n.2567-1G>T)
c.2141-1G>T (n.2141-1G>T)
c.1637-1G>T (n.1637-1G>T)
10g.70758175G>ACA377109051ADAMTS14c.3068G>A (p.Gly1023Glu)
c.3077G>A (p.Gly1026Glu)
c.2567G>A (p.Gly856Glu)
c.2141G>A (p.Gly714Glu)
c.1637G>A (p.Gly546Glu)
10g.70758175G>CCA377109052ADAMTS14c.3068G>C (p.Gly1023Ala)
c.3077G>C (p.Gly1026Ala)
c.2567G>C (p.Gly856Ala)
c.2141G>C (p.Gly714Ala)
c.1637G>C (p.Gly546Ala)
10g.70758175G>TCA377109053ADAMTS14c.3068G>T (p.Gly1023Val)
c.3077G>T (p.Gly1026Val)
c.2567G>T (p.Gly856Val)
c.2141G>T (p.Gly714Val)
c.1637G>T (p.Gly546Val)
10g.70758176A=CA1918399701ADAMTS14c.3069A= (p.Gly1023=)
c.3078A= (p.Gly1026=)
c.2568A= (p.Gly856=)
c.2142A= (p.Gly714=)
c.1638A= (p.Gly546=)
10g.70758176A>CCA470056297ADAMTS14c.3069A>C (p.Gly1023=)
c.3078A>C (p.Gly1026=)
c.2568A>C (p.Gly856=)
c.2142A>C (p.Gly714=)
c.1638A>C (p.Gly546=)
10g.70758176A>GCA470056298ADAMTS14c.3069A>G (p.Gly1023=)
c.3078A>G (p.Gly1026=)
c.2568A>G (p.Gly856=)
c.2142A>G (p.Gly714=)
c.1638A>G (p.Gly546=)
10g.70758176A>TCA209416085ADAMTS14c.3069A>T (p.Gly1023=)
c.3078A>T (p.Gly1026=)
c.2568A>T (p.Gly856=)
c.2142A>T (p.Gly714=)
c.1638A>T (p.Gly546=)
dbSNP
10g.70758177A=CA1918399702ADAMTS14c.3070A= (p.Asn1024=)
c.3079A= (p.Asn1027=)
c.2569A= (p.Asn857=)
c.2143A= (p.Asn715=)
c.1639A= (p.Asn547=)
10g.70758177A>CCA377109054ADAMTS14c.3070A>C (p.Asn1024His)
c.3079A>C (p.Asn1027His)
c.2569A>C (p.Asn857His)
c.2143A>C (p.Asn715His)
c.1639A>C (p.Asn547His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758177A>GCA377109055ADAMTS14c.3070A>G (p.Asn1024Asp)
c.3079A>G (p.Asn1027Asp)
c.2569A>G (p.Asn857Asp)
c.2143A>G (p.Asn715Asp)
c.1639A>G (p.Asn547Asp)
10g.70758177A>TCA377109056ADAMTS14c.3070A>T (p.Asn1024Tyr)
c.3079A>T (p.Asn1027Tyr)
c.2569A>T (p.Asn857Tyr)
c.2143A>T (p.Asn715Tyr)
c.1639A>T (p.Asn547Tyr)
10g.70758178A>CCA377109057ADAMTS14c.3071A>C (p.Asn1024Thr)
c.3080A>C (p.Asn1027Thr)
c.2570A>C (p.Asn857Thr)
c.2144A>C (p.Asn715Thr)
c.1640A>C (p.Asn547Thr)
10g.70758178A>GCA377109058ADAMTS14c.3071A>G (p.Asn1024Ser)
c.3080A>G (p.Asn1027Ser)
c.2570A>G (p.Asn857Ser)
c.2144A>G (p.Asn715Ser)
c.1640A>G (p.Asn547Ser)
10g.70758178A>TCA377109059ADAMTS14c.3071A>T (p.Asn1024Ile)
c.3080A>T (p.Asn1027Ile)
c.2570A>T (p.Asn857Ile)
c.2144A>T (p.Asn715Ile)
c.1640A>T (p.Asn547Ile)
10g.70758179T>ACA377109060ADAMTS14c.3072T>A (p.Asn1024Lys)
c.3081T>A (p.Asn1027Lys)
c.2571T>A (p.Asn857Lys)
c.2145T>A (p.Asn715Lys)
c.1641T>A (p.Asn547Lys)
10g.70758179T>CCA470056299ADAMTS14c.3072T>C (p.Asn1024=)
c.3081T>C (p.Asn1027=)
c.2571T>C (p.Asn857=)
c.2145T>C (p.Asn715=)
c.1641T>C (p.Asn547=)
10g.70758179T>GCA377109061ADAMTS14c.3072T>G (p.Asn1024Lys)
c.3081T>G (p.Asn1027Lys)
c.2571T>G (p.Asn857Lys)
c.2145T>G (p.Asn715Lys)
c.1641T>G (p.Asn547Lys)
10g.70758180C>ACA377109064ADAMTS14c.3073C>A (p.His1025Asn)
c.3082C>A (p.His1028Asn)
c.2572C>A (p.His858Asn)
c.2146C>A (p.His716Asn)
c.1642C>A (p.His548Asn)
10g.70758180C>GCA377109062ADAMTS14c.3073C>G (p.His1025Asp)
c.3082C>G (p.His1028Asp)
c.2572C>G (p.His858Asp)
c.2146C>G (p.His716Asp)
c.1642C>G (p.His548Asp)
10g.70758180C>TCA377109063ADAMTS14c.3073C>T (p.His1025Tyr)
c.3082C>T (p.His1028Tyr)
c.2572C>T (p.His858Tyr)
c.2146C>T (p.His716Tyr)
c.1642C>T (p.His548Tyr)
10g.70758181A=CA1918399703ADAMTS14c.3074A= (p.His1025=)
c.3083A= (p.His1028=)
c.2573A= (p.His858=)
c.2147A= (p.His716=)
c.1643A= (p.His548=)
10g.70758181A>CCA377109065ADAMTS14c.3074A>C (p.His1025Pro)
c.3083A>C (p.His1028Pro)
c.2573A>C (p.His858Pro)
c.2147A>C (p.His716Pro)
c.1643A>C (p.His548Pro)
10g.70758181A>GCA377109066ADAMTS14c.3074A>G (p.His1025Arg)
c.3083A>G (p.His1028Arg)
c.2573A>G (p.His858Arg)
c.2147A>G (p.His716Arg)
c.1643A>G (p.His548Arg)
dbSNP
10g.70758181A>TCA377109067ADAMTS14c.3074A>T (p.His1025Leu)
c.3083A>T (p.His1028Leu)
c.2573A>T (p.His858Leu)
c.2147A>T (p.His716Leu)
c.1643A>T (p.His548Leu)
gnomAD v4
10g.70758182C>ACA377109068ADAMTS14c.3075C>A (p.His1025Gln)
c.3084C>A (p.His1028Gln)
c.2574C>A (p.His858Gln)
c.2148C>A (p.His716Gln)
c.1644C>A (p.His548Gln)
10g.70758182C>GCA377109069ADAMTS14c.3075C>G (p.His1025Gln)
c.3084C>G (p.His1028Gln)
c.2574C>G (p.His858Gln)
c.2148C>G (p.His716Gln)
c.1644C>G (p.His548Gln)
10g.70758182C>TCA470056300ADAMTS14c.3075C>T (p.His1025=)
c.3084C>T (p.His1028=)
c.2574C>T (p.His858=)
c.2148C>T (p.His716=)
c.1644C>T (p.His548=)
gnomAD v4
10g.70758183C>ACA377109070ADAMTS14c.3076C>A (p.Gln1026Lys)
c.3085C>A (p.Gln1029Lys)
c.2575C>A (p.Gln859Lys)
c.2149C>A (p.Gln717Lys)
c.1645C>A (p.Gln549Lys)
COSMIC
10g.70758183C>GCA377109071ADAMTS14c.3076C>G (p.Gln1026Glu)
c.3085C>G (p.Gln1029Glu)
c.2575C>G (p.Gln859Glu)
c.2149C>G (p.Gln717Glu)
c.1645C>G (p.Gln549Glu)
10g.70758183C>TCA377109072ADAMTS14c.3076C>T (p.Gln1026Ter)
c.3085C>T (p.Gln1029Ter)
c.2575C>T (p.Gln859Ter)
c.2149C>T (p.Gln717Ter)
c.1645C>T (p.Gln549Ter)
10g.70758184A>CCA377109073ADAMTS14c.3077A>C (p.Gln1026Pro)
c.3086A>C (p.Gln1029Pro)
c.2576A>C (p.Gln859Pro)
c.2150A>C (p.Gln717Pro)
c.1646A>C (p.Gln549Pro)
10g.70758184A>GCA377109074ADAMTS14c.3077A>G (p.Gln1026Arg)
c.3086A>G (p.Gln1029Arg)
c.2576A>G (p.Gln859Arg)
c.2150A>G (p.Gln717Arg)
c.1646A>G (p.Gln549Arg)
10g.70758184A>TCA377109075ADAMTS14c.3077A>T (p.Gln1026Leu)
c.3086A>T (p.Gln1029Leu)
c.2576A>T (p.Gln859Leu)
c.2150A>T (p.Gln717Leu)
c.1646A>T (p.Gln549Leu)
10g.70758185G>ACA470056301ADAMTS14c.3078G>A (p.Gln1026=)
c.3087G>A (p.Gln1029=)
c.2577G>A (p.Gln859=)
c.2151G>A (p.Gln717=)
c.1647G>A (p.Gln549=)
10g.70758185G>CCA377109077ADAMTS14c.3078G>C (p.Gln1026His)
c.3087G>C (p.Gln1029His)
c.2577G>C (p.Gln859His)
c.2151G>C (p.Gln717His)
c.1647G>C (p.Gln549His)
10g.70758185G>TCA377109076ADAMTS14c.3078G>T (p.Gln1026His)
c.3087G>T (p.Gln1029His)
c.2577G>T (p.Gln859His)
c.2151G>T (p.Gln717His)
c.1647G>T (p.Gln549His)
10g.70758186A>CCA377109078ADAMTS14c.3079A>C (p.Asn1027His)
c.3088A>C (p.Asn1030His)
c.2578A>C (p.Asn860His)
c.2152A>C (p.Asn718His)
c.1648A>C (p.Asn550His)
10g.70758186A>GCA377109079ADAMTS14c.3079A>G (p.Asn1027Asp)
c.3088A>G (p.Asn1030Asp)
c.2578A>G (p.Asn860Asp)
c.2152A>G (p.Asn718Asp)
c.1648A>G (p.Asn550Asp)
10g.70758186A>TCA377109080ADAMTS14c.3079A>T (p.Asn1027Tyr)
c.3088A>T (p.Asn1030Tyr)
c.2578A>T (p.Asn860Tyr)
c.2152A>T (p.Asn718Tyr)
c.1648A>T (p.Asn550Tyr)
10g.70758187A>CCA377109081ADAMTS14c.3080A>C (p.Asn1027Thr)
c.3089A>C (p.Asn1030Thr)
c.2579A>C (p.Asn860Thr)
c.2153A>C (p.Asn718Thr)
c.1649A>C (p.Asn550Thr)
10g.70758187A>GCA377109082ADAMTS14c.3080A>G (p.Asn1027Ser)
c.3089A>G (p.Asn1030Ser)
c.2579A>G (p.Asn860Ser)
c.2153A>G (p.Asn718Ser)
c.1649A>G (p.Asn550Ser)
gnomAD v4
10g.70758187A>TCA377109083ADAMTS14c.3080A>T (p.Asn1027Ile)
c.3089A>T (p.Asn1030Ile)
c.2579A>T (p.Asn860Ile)
c.2153A>T (p.Asn718Ile)
c.1649A>T (p.Asn550Ile)
gnomAD v4
10g.70758188C>ACA377109085ADAMTS14c.3081C>A (p.Asn1027Lys)
c.3090C>A (p.Asn1030Lys)
c.2580C>A (p.Asn860Lys)
c.2154C>A (p.Asn718Lys)
c.1650C>A (p.Asn550Lys)
10g.70758188C=CA1918399704ADAMTS14c.3081C= (p.Asn1027=)
c.3090C= (p.Asn1030=)
c.2580C= (p.Asn860=)
c.2154C= (p.Asn718=)
c.1650C= (p.Asn550=)
10g.70758188C>GCA377109084ADAMTS14c.3081C>G (p.Asn1027Lys)
c.3090C>G (p.Asn1030Lys)
c.2580C>G (p.Asn860Lys)
c.2154C>G (p.Asn718Lys)
c.1650C>G (p.Asn550Lys)
dbSNP gnomAD v2 gnomAD v4
10g.70758188C>TCA470056302ADAMTS14c.3081C>T (p.Asn1027=)
c.3090C>T (p.Asn1030=)
c.2580C>T (p.Asn860=)
c.2154C>T (p.Asn718=)
c.1650C>T (p.Asn550=)
gnomAD v4
10g.70758189T>ACA377109086ADAMTS14c.3082T>A (p.Ser1028Thr)
c.3091T>A (p.Ser1031Thr)
c.2581T>A (p.Ser861Thr)
c.2155T>A (p.Ser719Thr)
c.1651T>A (p.Ser551Thr)
10g.70758189T>CCA377109087ADAMTS14c.3082T>C (p.Ser1028Pro)
c.3091T>C (p.Ser1031Pro)
c.2581T>C (p.Ser861Pro)
c.2155T>C (p.Ser719Pro)
c.1651T>C (p.Ser551Pro)
10g.70758189T>GCA377109088ADAMTS14c.3082T>G (p.Ser1028Ala)
c.3091T>G (p.Ser1031Ala)
c.2581T>G (p.Ser861Ala)
c.2155T>G (p.Ser719Ala)
c.1651T>G (p.Ser551Ala)
10g.70758190C>ACA377109089ADAMTS14c.3083C>A (p.Ser1028Tyr)
c.3092C>A (p.Ser1031Tyr)
c.2582C>A (p.Ser861Tyr)
c.2156C>A (p.Ser719Tyr)
c.1652C>A (p.Ser551Tyr)
10g.70758190C=CA1918399705ADAMTS14c.3083C= (p.Ser1028=)
c.3092C= (p.Ser1031=)
c.2582C= (p.Ser861=)
c.2156C= (p.Ser719=)
c.1652C= (p.Ser551=)
10g.70758190C>GCA377109090ADAMTS14c.3083C>G (p.Ser1028Cys)
c.3092C>G (p.Ser1031Cys)
c.2582C>G (p.Ser861Cys)
c.2156C>G (p.Ser719Cys)
c.1652C>G (p.Ser551Cys)
10g.70758190C>TCA377109091ADAMTS14c.3083C>T (p.Ser1028Phe)
c.3092C>T (p.Ser1031Phe)
c.2582C>T (p.Ser861Phe)
c.2156C>T (p.Ser719Phe)
c.1652C>T (p.Ser551Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.70758191C>ACA470056303ADAMTS14c.3084C>A (p.Ser1028=)
c.3093C>A (p.Ser1031=)
c.2583C>A (p.Ser861=)
c.2157C>A (p.Ser719=)
c.1653C>A (p.Ser551=)
10g.70758191C=CA1918399706ADAMTS14c.3084C= (p.Ser1028=)
c.3093C= (p.Ser1031=)
c.2583C= (p.Ser861=)
c.2157C= (p.Ser719=)
c.1653C= (p.Ser551=)
10g.70758191C>GCA470056304ADAMTS14c.3084C>G (p.Ser1028=)
c.3093C>G (p.Ser1031=)
c.2583C>G (p.Ser861=)
c.2157C>G (p.Ser719=)
c.1653C>G (p.Ser551=)
10g.70758191C>TCA470056305ADAMTS14c.3084C>T (p.Ser1028=)
c.3093C>T (p.Ser1031=)
c.2583C>T (p.Ser861=)
c.2157C>T (p.Ser719=)
c.1653C>T (p.Ser551=)
dbSNP
10g.70758192A>CCA377109092ADAMTS14c.3085A>C (p.Thr1029Pro)
c.3094A>C (p.Thr1032Pro)
c.2584A>C (p.Thr862Pro)
c.2158A>C (p.Thr720Pro)
c.1654A>C (p.Thr552Pro)
10g.70758192A>GCA377109094ADAMTS14c.3085A>G (p.Thr1029Ala)
c.3094A>G (p.Thr1032Ala)
c.2584A>G (p.Thr862Ala)
c.2158A>G (p.Thr720Ala)
c.1654A>G (p.Thr552Ala)
10g.70758192A>TCA377109093ADAMTS14c.3085A>T (p.Thr1029Ser)
c.3094A>T (p.Thr1032Ser)
c.2584A>T (p.Thr862Ser)
c.2158A>T (p.Thr720Ser)
c.1654A>T (p.Thr552Ser)
10g.70758193C>ACA377109095ADAMTS14c.3086C>A (p.Thr1029Lys)
c.3095C>A (p.Thr1032Lys)
c.2585C>A (p.Thr862Lys)
c.2159C>A (p.Thr720Lys)
c.1655C>A (p.Thr552Lys)
10g.70758193C=CA1918399707ADAMTS14c.3086C= (p.Thr1029=)
c.3095C= (p.Thr1032=)
c.2585C= (p.Thr862=)
c.2159C= (p.Thr720=)
c.1655C= (p.Thr552=)
10g.70758193C>GCA377109096ADAMTS14c.3086C>G (p.Thr1029Arg)
c.3095C>G (p.Thr1032Arg)
c.2585C>G (p.Thr862Arg)
c.2159C>G (p.Thr720Arg)
c.1655C>G (p.Thr552Arg)
10g.70758193C>TCA5540331ADAMTS14c.3086C>T (p.Thr1029Met)
c.3095C>T (p.Thr1032Met)
c.2585C>T (p.Thr862Met)
c.2159C>T (p.Thr720Met)
c.1655C>T (p.Thr552Met)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758194G>ACA5540332ADAMTS14c.3087G>A (p.Thr1029=)
c.3096G>A (p.Thr1032=)
c.2586G>A (p.Thr862=)
c.2160G>A (p.Thr720=)
c.1656G>A (p.Thr552=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758194G>CCA5540333ADAMTS14c.3087G>C (p.Thr1029=)
c.3096G>C (p.Thr1032=)
c.2586G>C (p.Thr862=)
c.2160G>C (p.Thr720=)
c.1656G>C (p.Thr552=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758194G=CA1918399708ADAMTS14c.3087G= (p.Thr1029=)
c.3096G= (p.Thr1032=)
c.2586G= (p.Thr862=)
c.2160G= (p.Thr720=)
c.1656G= (p.Thr552=)
10g.70758194G>TCA470056306ADAMTS14c.3087G>T (p.Thr1029=)
c.3096G>T (p.Thr1032=)
c.2586G>T (p.Thr862=)
c.2160G>T (p.Thr720=)
c.1656G>T (p.Thr552=)
gnomAD v4
10g.70758195G>ACA377109097ADAMTS14c.3088G>A (p.Val1030Met)
c.3097G>A (p.Val1033Met)
c.2587G>A (p.Val863Met)
c.2161G>A (p.Val721Met)
c.1657G>A (p.Val553Met)
10g.70758195G>CCA377109098ADAMTS14c.3088G>C (p.Val1030Leu)
c.3097G>C (p.Val1033Leu)
c.2587G>C (p.Val863Leu)
c.2161G>C (p.Val721Leu)
c.1657G>C (p.Val553Leu)
10g.70758195G>TCA377109099ADAMTS14c.3088G>T (p.Val1030Leu)
c.3097G>T (p.Val1033Leu)
c.2587G>T (p.Val863Leu)
c.2161G>T (p.Val721Leu)
c.1657G>T (p.Val553Leu)
10g.70758196T>ACA377109100ADAMTS14c.3089T>A (p.Val1030Glu)
c.3098T>A (p.Val1033Glu)
c.2588T>A (p.Val863Glu)
c.2162T>A (p.Val721Glu)
c.1658T>A (p.Val553Glu)
10g.70758196T>CCA377109101ADAMTS14c.3089T>C (p.Val1030Ala)
c.3098T>C (p.Val1033Ala)
c.2588T>C (p.Val863Ala)
c.2162T>C (p.Val721Ala)
c.1658T>C (p.Val553Ala)
10g.70758196T>GCA377109102ADAMTS14c.3089T>G (p.Val1030Gly)
c.3098T>G (p.Val1033Gly)
c.2588T>G (p.Val863Gly)
c.2162T>G (p.Val721Gly)
c.1658T>G (p.Val553Gly)
10g.70758197G>ACA5540334ADAMTS14c.3090G>A (p.Val1030=)
c.3099G>A (p.Val1033=)
c.2589G>A (p.Val863=)
c.2163G>A (p.Val721=)
c.1659G>A (p.Val553=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758197G>CCA470056307ADAMTS14c.3090G>C (p.Val1030=)
c.3099G>C (p.Val1033=)
c.2589G>C (p.Val863=)
c.2163G>C (p.Val721=)
c.1659G>C (p.Val553=)
10g.70758197G=CA1918399709ADAMTS14c.3090G= (p.Val1030=)
c.3099G= (p.Val1033=)
c.2589G= (p.Val863=)
c.2163G= (p.Val721=)
c.1659G= (p.Val553=)
10g.70758197G>TCA470056308ADAMTS14c.3090G>T (p.Val1030=)
c.3099G>T (p.Val1033=)
c.2589G>T (p.Val863=)
c.2163G>T (p.Val721=)
c.1659G>T (p.Val553=)
10g.70758198A>CCA470056309ADAMTS14c.3091A>C (p.Arg1031=)
c.3100A>C (p.Arg1034=)
c.2590A>C (p.Arg864=)
c.2164A>C (p.Arg722=)
c.1660A>C (p.Arg554=)
10g.70758198A>GCA377109104ADAMTS14c.3091A>G (p.Arg1031Gly)
c.3100A>G (p.Arg1034Gly)
c.2590A>G (p.Arg864Gly)
c.2164A>G (p.Arg722Gly)
c.1660A>G (p.Arg554Gly)
10g.70758198A>TCA377109103ADAMTS14c.3091A>T (p.Arg1031Trp)
c.3100A>T (p.Arg1034Trp)
c.2590A>T (p.Arg864Trp)
c.2164A>T (p.Arg722Trp)
c.1660A>T (p.Arg554Trp)
10g.70758199G>ACA377109105ADAMTS14c.3092G>A (p.Arg1031Lys)
c.3101G>A (p.Arg1034Lys)
c.2591G>A (p.Arg864Lys)
c.2165G>A (p.Arg722Lys)
c.1661G>A (p.Arg554Lys)
10g.70758199G>CCA5540335ADAMTS14c.3092G>C (p.Arg1031Thr)
c.3101G>C (p.Arg1034Thr)
c.2591G>C (p.Arg864Thr)
c.2165G>C (p.Arg722Thr)
c.1661G>C (p.Arg554Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758199G=CA1918399710ADAMTS14c.3092G= (p.Arg1031=)
c.3101G= (p.Arg1034=)
c.2591G= (p.Arg864=)
c.2165G= (p.Arg722=)
c.1661G= (p.Arg554=)
10g.70758199G>TCA377109106ADAMTS14c.3092G>T (p.Arg1031Met)
c.3101G>T (p.Arg1034Met)
c.2591G>T (p.Arg864Met)
c.2165G>T (p.Arg722Met)
c.1661G>T (p.Arg554Met)
10g.70758200G>ACA470056310ADAMTS14c.3093G>A (p.Arg1031=)
c.3102G>A (p.Arg1034=)
c.2592G>A (p.Arg864=)
c.2166G>A (p.Arg722=)
c.1662G>A (p.Arg554=)
dbSNP gnomAD v2
10g.70758200G>CCA377109107ADAMTS14c.3093G>C (p.Arg1031Ser)
c.3102G>C (p.Arg1034Ser)
c.2592G>C (p.Arg864Ser)
c.2166G>C (p.Arg722Ser)
c.1662G>C (p.Arg554Ser)
10g.70758200G=CA1918399711ADAMTS14c.3093G= (p.Arg1031=)
c.3102G= (p.Arg1034=)
c.2592G= (p.Arg864=)
c.2166G= (p.Arg722=)
c.1662G= (p.Arg554=)
10g.70758200G>TCA377109108ADAMTS14c.3093G>T (p.Arg1031Ser)
c.3102G>T (p.Arg1034Ser)
c.2592G>T (p.Arg864Ser)
c.2166G>T (p.Arg722Ser)
c.1662G>T (p.Arg554Ser)
gnomAD v4
10g.70758201G>ACA377109109ADAMTS14c.3094G>A (p.Ala1032Thr)
c.3103G>A (p.Ala1035Thr)
c.2593G>A (p.Ala865Thr)
c.2167G>A (p.Ala723Thr)
c.1663G>A (p.Ala555Thr)
gnomAD v4
10g.70758201G>CCA377109110ADAMTS14c.3094G>C (p.Ala1032Pro)
c.3103G>C (p.Ala1035Pro)
c.2593G>C (p.Ala865Pro)
c.2167G>C (p.Ala723Pro)
c.1663G>C (p.Ala555Pro)
10g.70758201G>TCA377109111ADAMTS14c.3094G>T (p.Ala1032Ser)
c.3103G>T (p.Ala1035Ser)
c.2593G>T (p.Ala865Ser)
c.2167G>T (p.Ala723Ser)
c.1663G>T (p.Ala555Ser)
10g.70758202C>ACA377109112ADAMTS14c.3095C>A (p.Ala1032Asp)
c.3104C>A (p.Ala1035Asp)
c.2594C>A (p.Ala865Asp)
c.2168C>A (p.Ala723Asp)
c.1664C>A (p.Ala555Asp)
gnomAD v4
10g.70758202C>GCA377109113ADAMTS14c.3095C>G (p.Ala1032Gly)
c.3104C>G (p.Ala1035Gly)
c.2594C>G (p.Ala865Gly)
c.2168C>G (p.Ala723Gly)
c.1664C>G (p.Ala555Gly)
10g.70758202C>TCA377109114ADAMTS14c.3095C>T (p.Ala1032Val)
c.3104C>T (p.Ala1035Val)
c.2594C>T (p.Ala865Val)
c.2168C>T (p.Ala723Val)
c.1664C>T (p.Ala555Val)
10g.70758203C>ACA470056311ADAMTS14c.3096C>A (p.Ala1032=)
c.3105C>A (p.Ala1035=)
c.2595C>A (p.Ala865=)
c.2169C>A (p.Ala723=)
c.1665C>A (p.Ala555=)
10g.70758203C=CA1918399712ADAMTS14c.3096C= (p.Ala1032=)
c.3105C= (p.Ala1035=)
c.2595C= (p.Ala865=)
c.2169C= (p.Ala723=)
c.1665C= (p.Ala555=)
10g.70758203C>GCA470056312ADAMTS14c.3096C>G (p.Ala1032=)
c.3105C>G (p.Ala1035=)
c.2595C>G (p.Ala865=)
c.2169C>G (p.Ala723=)
c.1665C>G (p.Ala555=)
10g.70758203C>TCA5540336ADAMTS14c.3096C>T (p.Ala1032=)
c.3105C>T (p.Ala1035=)
c.2595C>T (p.Ala865=)
c.2169C>T (p.Ala723=)
c.1665C>T (p.Ala555=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758204G>ACA5540337ADAMTS14c.3097G>A (p.Asp1033Asn)
c.3106G>A (p.Asp1036Asn)
c.2596G>A (p.Asp866Asn)
c.2170G>A (p.Asp724Asn)
c.1666G>A (p.Asp556Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.70758204G>CCA377109115ADAMTS14c.3097G>C (p.Asp1033His)
c.3106G>C (p.Asp1036His)
c.2596G>C (p.Asp866His)
c.2170G>C (p.Asp724His)
c.1666G>C (p.Asp556His)
dbSNP gnomAD v2 gnomAD v4
10g.70758204G=CA1918399713ADAMTS14c.3097G= (p.Asp1033=)
c.3106G= (p.Asp1036=)
c.2596G= (p.Asp866=)
c.2170G= (p.Asp724=)
c.1666G= (p.Asp556=)
10g.70758204G>TCA5540338ADAMTS14c.3097G>T (p.Asp1033Tyr)
c.3106G>T (p.Asp1036Tyr)
c.2596G>T (p.Asp866Tyr)
c.2170G>T (p.Asp724Tyr)
c.1666G>T (p.Asp556Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758205A>CCA377109118ADAMTS14c.3098A>C (p.Asp1033Ala)
c.3107A>C (p.Asp1036Ala)
c.2597A>C (p.Asp866Ala)
c.2171A>C (p.Asp724Ala)
c.1667A>C (p.Asp556Ala)
10g.70758205A>GCA377109117ADAMTS14c.3098A>G (p.Asp1033Gly)
c.3107A>G (p.Asp1036Gly)
c.2597A>G (p.Asp866Gly)
c.2171A>G (p.Asp724Gly)
c.1667A>G (p.Asp556Gly)
10g.70758205A>TCA377109116ADAMTS14c.3098A>T (p.Asp1033Val)
c.3107A>T (p.Asp1036Val)
c.2597A>T (p.Asp866Val)
c.2171A>T (p.Asp724Val)
c.1667A>T (p.Asp556Val)
10g.70758206T>ACA377109119ADAMTS14c.3099T>A (p.Asp1033Glu)
c.3108T>A (p.Asp1036Glu)
c.2598T>A (p.Asp866Glu)
c.2172T>A (p.Asp724Glu)
c.1668T>A (p.Asp556Glu)
10g.70758206T>CCA470056313ADAMTS14c.3099T>C (p.Asp1033=)
c.3108T>C (p.Asp1036=)
c.2598T>C (p.Asp866=)
c.2172T>C (p.Asp724=)
c.1668T>C (p.Asp556=)
10g.70758206T>GCA377109120ADAMTS14c.3099T>G (p.Asp1033Glu)
c.3108T>G (p.Asp1036Glu)
c.2598T>G (p.Asp866Glu)
c.2172T>G (p.Asp724Glu)
c.1668T>G (p.Asp556Glu)
10g.70758207G>ACA377109121ADAMTS14c.3100G>A (p.Val1034Ile)
c.3109G>A (p.Val1037Ile)
c.2599G>A (p.Val867Ile)
c.2173G>A (p.Val725Ile)
c.1669G>A (p.Val557Ile)
10g.70758207G>CCA377109122ADAMTS14c.3100G>C (p.Val1034Leu)
c.3109G>C (p.Val1037Leu)
c.2599G>C (p.Val867Leu)
c.2173G>C (p.Val725Leu)
c.1669G>C (p.Val557Leu)
10g.70758207G>TCA377109123ADAMTS14c.3100G>T (p.Val1034Phe)
c.3109G>T (p.Val1037Phe)
c.2599G>T (p.Val867Phe)
c.2173G>T (p.Val725Phe)
c.1669G>T (p.Val557Phe)
10g.70758208T>ACA377109124ADAMTS14c.3101T>A (p.Val1034Asp)
c.3110T>A (p.Val1037Asp)
c.2600T>A (p.Val867Asp)
c.2174T>A (p.Val725Asp)
c.1670T>A (p.Val557Asp)
10g.70758208T>CCA377109125ADAMTS14c.3101T>C (p.Val1034Ala)
c.3110T>C (p.Val1037Ala)
c.2600T>C (p.Val867Ala)
c.2174T>C (p.Val725Ala)
c.1670T>C (p.Val557Ala)
COSMIC
10g.70758208T>GCA377109126ADAMTS14c.3101T>G (p.Val1034Gly)
c.3110T>G (p.Val1037Gly)
c.2600T>G (p.Val867Gly)
c.2174T>G (p.Val725Gly)
c.1670T>G (p.Val557Gly)
10g.70758209C>ACA470056314ADAMTS14c.3102C>A (p.Val1034=)
c.3111C>A (p.Val1037=)
c.2601C>A (p.Val867=)
c.2175C>A (p.Val725=)
c.1671C>A (p.Val557=)
10g.70758209C=CA1918399714ADAMTS14c.3102C= (p.Val1034=)
c.3111C= (p.Val1037=)
c.2601C= (p.Val867=)
c.2175C= (p.Val725=)
c.1671C= (p.Val557=)
10g.70758209C>GCA470056315ADAMTS14c.3102C>G (p.Val1034=)
c.3111C>G (p.Val1037=)
c.2601C>G (p.Val867=)
c.2175C>G (p.Val725=)
c.1671C>G (p.Val557=)
10g.70758209C>TCA470056316ADAMTS14c.3102C>T (p.Val1034=)
c.3111C>T (p.Val1037=)
c.2601C>T (p.Val867=)
c.2175C>T (p.Val725=)
c.1671C>T (p.Val557=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758210T>ACA377109127ADAMTS14c.3103T>A (p.Trp1035Arg)
c.3112T>A (p.Trp1038Arg)
c.2602T>A (p.Trp868Arg)
c.2176T>A (p.Trp726Arg)
c.1672T>A (p.Trp558Arg)
10g.70758210T>CCA377109128ADAMTS14c.3103T>C (p.Trp1035Arg)
c.3112T>C (p.Trp1038Arg)
c.2602T>C (p.Trp868Arg)
c.2176T>C (p.Trp726Arg)
c.1672T>C (p.Trp558Arg)
10g.70758210T>GCA377109129ADAMTS14c.3103T>G (p.Trp1035Gly)
c.3112T>G (p.Trp1038Gly)
c.2602T>G (p.Trp868Gly)
c.2176T>G (p.Trp726Gly)
c.1672T>G (p.Trp558Gly)
10g.70758211G>ACA377109131ADAMTS14c.3104G>A (p.Trp1035Ter)
c.3113G>A (p.Trp1038Ter)
c.2603G>A (p.Trp868Ter)
c.2177G>A (p.Trp726Ter)
c.1673G>A (p.Trp558Ter)
dbSNP gnomAD v3 gnomAD v4
10g.70758211G>CCA377109132ADAMTS14c.3104G>C (p.Trp1035Ser)
c.3113G>C (p.Trp1038Ser)
c.2603G>C (p.Trp868Ser)
c.2177G>C (p.Trp726Ser)
c.1673G>C (p.Trp558Ser)
10g.70758211G=CA1918399715ADAMTS14c.3104G= (p.Trp1035=)
c.3113G= (p.Trp1038=)
c.2603G= (p.Trp868=)
c.2177G= (p.Trp726=)
c.1673G= (p.Trp558=)
10g.70758211G>TCA377109130ADAMTS14c.3104G>T (p.Trp1035Leu)
c.3113G>T (p.Trp1038Leu)
c.2603G>T (p.Trp868Leu)
c.2177G>T (p.Trp726Leu)
c.1673G>T (p.Trp558Leu)
10g.70758212G>ACA377109133ADAMTS14c.3105G>A (p.Trp1035Ter)
c.3114G>A (p.Trp1038Ter)
c.2604G>A (p.Trp868Ter)
c.2178G>A (p.Trp726Ter)
c.1674G>A (p.Trp558Ter)
dbSNP gnomAD v2 gnomAD v4
10g.70758212G>CCA377109134ADAMTS14c.3105G>C (p.Trp1035Cys)
c.3114G>C (p.Trp1038Cys)
c.2604G>C (p.Trp868Cys)
c.2178G>C (p.Trp726Cys)
c.1674G>C (p.Trp558Cys)
10g.70758212G=CA1918399716ADAMTS14c.3105G= (p.Trp1035=)
c.3114G= (p.Trp1038=)
c.2604G= (p.Trp868=)
c.2178G= (p.Trp726=)
c.1674G= (p.Trp558=)
10g.70758212G>TCA377109135ADAMTS14c.3105G>T (p.Trp1035Cys)
c.3114G>T (p.Trp1038Cys)
c.2604G>T (p.Trp868Cys)
c.2178G>T (p.Trp726Cys)
c.1674G>T (p.Trp558Cys)
10g.70758213G>ACA5540340ADAMTS14c.3106G>A (p.Glu1036Lys)
c.3115G>A (p.Glu1039Lys)
c.2605G>A (p.Glu869Lys)
c.2179G>A (p.Glu727Lys)
c.1675G>A (p.Glu559Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758213G>CCA5540339ADAMTS14c.3106G>C (p.Glu1036Gln)
c.3115G>C (p.Glu1039Gln)
c.2605G>C (p.Glu869Gln)
c.2179G>C (p.Glu727Gln)
c.1675G>C (p.Glu559Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758213G=CA1918399717ADAMTS14c.3106G= (p.Glu1036=)
c.3115G= (p.Glu1039=)
c.2605G= (p.Glu869=)
c.2179G= (p.Glu727=)
c.1675G= (p.Glu559=)
10g.70758213G>TCA377109136ADAMTS14c.3106G>T (p.Glu1036Ter)
c.3115G>T (p.Glu1039Ter)
c.2605G>T (p.Glu869Ter)
c.2179G>T (p.Glu727Ter)
c.1675G>T (p.Glu559Ter)
10g.70758214A>CCA377109137ADAMTS14c.3107A>C (p.Glu1036Ala)
c.3116A>C (p.Glu1039Ala)
c.2606A>C (p.Glu869Ala)
c.2180A>C (p.Glu727Ala)
c.1676A>C (p.Glu559Ala)
10g.70758214A>GCA377109138ADAMTS14c.3107A>G (p.Glu1036Gly)
c.3116A>G (p.Glu1039Gly)
c.2606A>G (p.Glu869Gly)
c.2180A>G (p.Glu727Gly)
c.1676A>G (p.Glu559Gly)
10g.70758214A>TCA377109139ADAMTS14c.3107A>T (p.Glu1036Val)
c.3116A>T (p.Glu1039Val)
c.2606A>T (p.Glu869Val)
c.2180A>T (p.Glu727Val)
c.1676A>T (p.Glu559Val)
10g.70758215A>CCA377109140ADAMTS14c.3108A>C (p.Glu1036Asp)
c.3117A>C (p.Glu1039Asp)
c.2607A>C (p.Glu869Asp)
c.2181A>C (p.Glu727Asp)
c.1677A>C (p.Glu559Asp)
10g.70758215A>GCA470056317ADAMTS14c.3108A>G (p.Glu1036=)
c.3117A>G (p.Glu1039=)
c.2607A>G (p.Glu869=)
c.2181A>G (p.Glu727=)
c.1677A>G (p.Glu559=)
10g.70758215A>TCA377109141ADAMTS14c.3108A>T (p.Glu1036Asp)
c.3117A>T (p.Glu1039Asp)
c.2607A>T (p.Glu869Asp)
c.2181A>T (p.Glu727Asp)
c.1677A>T (p.Glu559Asp)
10g.70758216C>ACA377109143ADAMTS14c.3109C>A (p.Leu1037Ile)
c.3118C>A (p.Leu1040Ile)
c.2608C>A (p.Leu870Ile)
c.2182C>A (p.Leu728Ile)
c.1678C>A (p.Leu560Ile)
dbSNP gnomAD v4
10g.70758216C=CA1918399718ADAMTS14c.3109C= (p.Leu1037=)
c.3118C= (p.Leu1040=)
c.2608C= (p.Leu870=)
c.2182C= (p.Leu728=)
c.1678C= (p.Leu560=)
10g.70758216C>GCA377109144ADAMTS14c.3109C>G (p.Leu1037Val)
c.3118C>G (p.Leu1040Val)
c.2608C>G (p.Leu870Val)
c.2182C>G (p.Leu728Val)
c.1678C>G (p.Leu560Val)
10g.70758216C>TCA377109142ADAMTS14c.3109C>T (p.Leu1037Phe)
c.3118C>T (p.Leu1040Phe)
c.2608C>T (p.Leu870Phe)
c.2182C>T (p.Leu728Phe)
c.1678C>T (p.Leu560Phe)
10g.70758217T>ACA377109145ADAMTS14c.3110T>A (p.Leu1037His)
c.3119T>A (p.Leu1040His)
c.2609T>A (p.Leu870His)
c.2183T>A (p.Leu728His)
c.1679T>A (p.Leu560His)
10g.70758217T>CCA377109146ADAMTS14c.3110T>C (p.Leu1037Pro)
c.3119T>C (p.Leu1040Pro)
c.2609T>C (p.Leu870Pro)
c.2183T>C (p.Leu728Pro)
c.1679T>C (p.Leu560Pro)
COSMIC
10g.70758217T>GCA377109147ADAMTS14c.3110T>G (p.Leu1037Arg)
c.3119T>G (p.Leu1040Arg)
c.2609T>G (p.Leu870Arg)
c.2183T>G (p.Leu728Arg)
c.1679T>G (p.Leu560Arg)
gnomAD v4
10g.70758218T>ACA470056318ADAMTS14c.3111T>A (p.Leu1037=)
c.3120T>A (p.Leu1040=)
c.2610T>A (p.Leu870=)
c.2184T>A (p.Leu728=)
c.1680T>A (p.Leu560=)
10g.70758218T>CCA470056319ADAMTS14c.3111T>C (p.Leu1037=)
c.3120T>C (p.Leu1040=)
c.2610T>C (p.Leu870=)
c.2184T>C (p.Leu728=)
c.1680T>C (p.Leu560=)
10g.70758218T>GCA470056320ADAMTS14c.3111T>G (p.Leu1037=)
c.3120T>G (p.Leu1040=)
c.2610T>G (p.Leu870=)
c.2184T>G (p.Leu728=)
c.1680T>G (p.Leu560=)
10g.70758219G>ACA377109148ADAMTS14c.3112G>A (p.Gly1038Arg)
c.3121G>A (p.Gly1041Arg)
c.2611G>A (p.Gly871Arg)
c.2185G>A (p.Gly729Arg)
c.1681G>A (p.Gly561Arg)
10g.70758219G>CCA377109149ADAMTS14c.3112G>C (p.Gly1038Arg)
c.3121G>C (p.Gly1041Arg)
c.2611G>C (p.Gly871Arg)
c.2185G>C (p.Gly729Arg)
c.1681G>C (p.Gly561Arg)
10g.70758219G>TCA377109150ADAMTS14c.3112G>T (p.Gly1038Trp)
c.3121G>T (p.Gly1041Trp)
c.2611G>T (p.Gly871Trp)
c.2185G>T (p.Gly729Trp)
c.1681G>T (p.Gly561Trp)
10g.70758220G>ACA377109151ADAMTS14c.3113G>A (p.Gly1038Glu)
c.3122G>A (p.Gly1041Glu)
c.2612G>A (p.Gly871Glu)
c.2186G>A (p.Gly729Glu)
c.1682G>A (p.Gly561Glu)
10g.70758220G>CCA377109153ADAMTS14c.3113G>C (p.Gly1038Ala)
c.3122G>C (p.Gly1041Ala)
c.2612G>C (p.Gly871Ala)
c.2186G>C (p.Gly729Ala)
c.1682G>C (p.Gly561Ala)
10g.70758220G>TCA377109152ADAMTS14c.3113G>T (p.Gly1038Val)
c.3122G>T (p.Gly1041Val)
c.2612G>T (p.Gly871Val)
c.2186G>T (p.Gly729Val)
c.1682G>T (p.Gly561Val)
10g.70758221G>ACA5540341ADAMTS14c.3114G>A (p.Gly1038=)
c.3123G>A (p.Gly1041=)
c.2613G>A (p.Gly871=)
c.2187G>A (p.Gly729=)
c.1683G>A (p.Gly561=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758221G>CCA470056321ADAMTS14c.3114G>C (p.Gly1038=)
c.3123G>C (p.Gly1041=)
c.2613G>C (p.Gly871=)
c.2187G>C (p.Gly729=)
c.1683G>C (p.Gly561=)
10g.70758221G=CA1918399719ADAMTS14c.3114G= (p.Gly1038=)
c.3123G= (p.Gly1041=)
c.2613G= (p.Gly871=)
c.2187G= (p.Gly729=)
c.1683G= (p.Gly561=)
10g.70758221G>TCA5540342ADAMTS14c.3114G>T (p.Gly1038=)
c.3123G>T (p.Gly1041=)
c.2613G>T (p.Gly871=)
c.2187G>T (p.Gly729=)
c.1683G>T (p.Gly561=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758222A>CCA377109154ADAMTS14c.3115A>C (p.Thr1039Pro)
c.3124A>C (p.Thr1042Pro)
c.2614A>C (p.Thr872Pro)
c.2188A>C (p.Thr730Pro)
c.1684A>C (p.Thr562Pro)
10g.70758222A>GCA377109155ADAMTS14c.3115A>G (p.Thr1039Ala)
c.3124A>G (p.Thr1042Ala)
c.2614A>G (p.Thr872Ala)
c.2188A>G (p.Thr730Ala)
c.1684A>G (p.Thr562Ala)
10g.70758222A>TCA377109156ADAMTS14c.3115A>T (p.Thr1039Ser)
c.3124A>T (p.Thr1042Ser)
c.2614A>T (p.Thr872Ser)
c.2188A>T (p.Thr730Ser)
c.1684A>T (p.Thr562Ser)
10g.70758223C>ACA377109157ADAMTS14c.3116C>A (p.Thr1039Lys)
c.3125C>A (p.Thr1042Lys)
c.2615C>A (p.Thr872Lys)
c.2189C>A (p.Thr730Lys)
c.1685C>A (p.Thr562Lys)
10g.70758223C=CA1918399720ADAMTS14c.3116C= (p.Thr1039=)
c.3125C= (p.Thr1042=)
c.2615C= (p.Thr872=)
c.2189C= (p.Thr730=)
c.1685C= (p.Thr562=)
10g.70758223C>GCA377109158ADAMTS14c.3116C>G (p.Thr1039Arg)
c.3125C>G (p.Thr1042Arg)
c.2615C>G (p.Thr872Arg)
c.2189C>G (p.Thr730Arg)
c.1685C>G (p.Thr562Arg)
10g.70758223C>TCA5540343ADAMTS14c.3116C>T (p.Thr1039Met)
c.3125C>T (p.Thr1042Met)
c.2615C>T (p.Thr872Met)
c.2189C>T (p.Thr730Met)
c.1685C>T (p.Thr562Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758224G>ACA5540344ADAMTS14c.3117G>A (p.Thr1039=)
c.3126G>A (p.Thr1042=)
c.2616G>A (p.Thr872=)
c.2190G>A (p.Thr730=)
c.1686G>A (p.Thr562=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.70758224G>CCA470056322ADAMTS14c.3117G>C (p.Thr1039=)
c.3126G>C (p.Thr1042=)
c.2616G>C (p.Thr872=)
c.2190G>C (p.Thr730=)
c.1686G>C (p.Thr562=)
10g.70758224G=CA1918399721ADAMTS14c.3117G= (p.Thr1039=)
c.3126G= (p.Thr1042=)
c.2616G= (p.Thr872=)
c.2190G= (p.Thr730=)
c.1686G= (p.Thr562=)
10g.70758224G>TCA5540345ADAMTS14c.3117G>T (p.Thr1039=)
c.3126G>T (p.Thr1042=)
c.2616G>T (p.Thr872=)
c.2190G>T (p.Thr730=)
c.1686G>T (p.Thr562=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758225C>ACA377109159ADAMTS14c.3118C>A (p.Pro1040Thr)
c.3127C>A (p.Pro1043Thr)
c.2617C>A (p.Pro873Thr)
c.2191C>A (p.Pro731Thr)
c.1687C>A (p.Pro563Thr)
10g.70758225C>GCA377109160ADAMTS14c.3118C>G (p.Pro1040Ala)
c.3127C>G (p.Pro1043Ala)
c.2617C>G (p.Pro873Ala)
c.2191C>G (p.Pro731Ala)
c.1687C>G (p.Pro563Ala)
10g.70758225C>TCA377109161ADAMTS14c.3118C>T (p.Pro1040Ser)
c.3127C>T (p.Pro1043Ser)
c.2617C>T (p.Pro873Ser)
c.2191C>T (p.Pro731Ser)
c.1687C>T (p.Pro563Ser)
gnomAD v4
10g.70758226C>ACA377109162ADAMTS14c.3119C>A (p.Pro1040Gln)
c.3128C>A (p.Pro1043Gln)
c.2618C>A (p.Pro873Gln)
c.2192C>A (p.Pro731Gln)
c.1688C>A (p.Pro563Gln)
10g.70758226C>GCA377109163ADAMTS14c.3119C>G (p.Pro1040Arg)
c.3128C>G (p.Pro1043Arg)
c.2618C>G (p.Pro873Arg)
c.2192C>G (p.Pro731Arg)
c.1688C>G (p.Pro563Arg)
10g.70758226C>TCA377109164ADAMTS14c.3119C>T (p.Pro1040Leu)
c.3128C>T (p.Pro1043Leu)
c.2618C>T (p.Pro873Leu)
c.2192C>T (p.Pro731Leu)
c.1688C>T (p.Pro563Leu)
10g.70758227A>CCA470056323ADAMTS14c.3120A>C (p.Pro1040=)
c.3129A>C (p.Pro1043=)
c.2619A>C (p.Pro873=)
c.2193A>C (p.Pro731=)
c.1689A>C (p.Pro563=)
COSMIC
10g.70758227A>GCA470056324ADAMTS14c.3120A>G (p.Pro1040=)
c.3129A>G (p.Pro1043=)
c.2619A>G (p.Pro873=)
c.2193A>G (p.Pro731=)
c.1689A>G (p.Pro563=)
10g.70758227A>TCA470056325ADAMTS14c.3120A>T (p.Pro1040=)
c.3129A>T (p.Pro1043=)
c.2619A>T (p.Pro873=)
c.2193A>T (p.Pro731=)
c.1689A>T (p.Pro563=)
10g.70758228G>ACA377109165ADAMTS14c.3121G>A (p.Glu1041Lys)
c.3130G>A (p.Glu1044Lys)
c.2620G>A (p.Glu874Lys)
c.2194G>A (p.Glu732Lys)
c.1690G>A (p.Glu564Lys)
gnomAD v4
10g.70758228G>CCA377109166ADAMTS14c.3121G>C (p.Glu1041Gln)
c.3130G>C (p.Glu1044Gln)
c.2620G>C (p.Glu874Gln)
c.2194G>C (p.Glu732Gln)
c.1690G>C (p.Glu564Gln)
10g.70758228G>TCA377109167ADAMTS14c.3121G>T (p.Glu1041Ter)
c.3130G>T (p.Glu1044Ter)
c.2620G>T (p.Glu874Ter)
c.2194G>T (p.Glu732Ter)
c.1690G>T (p.Glu564Ter)
10g.70758229A=CA1918399722ADAMTS14c.3122A= (p.Glu1041=)
c.3131A= (p.Glu1044=)
c.2621A= (p.Glu874=)
c.2195A= (p.Glu732=)
c.1691A= (p.Glu564=)
10g.70758229A>CCA377109168ADAMTS14c.3122A>C (p.Glu1041Ala)
c.3131A>C (p.Glu1044Ala)
c.2621A>C (p.Glu874Ala)
c.2195A>C (p.Glu732Ala)
c.1691A>C (p.Glu564Ala)
10g.70758229A>GCA377109169ADAMTS14c.3122A>G (p.Glu1041Gly)
c.3131A>G (p.Glu1044Gly)
c.2621A>G (p.Glu874Gly)
c.2195A>G (p.Glu732Gly)
c.1691A>G (p.Glu564Gly)
10g.70758229A>TCA377109170ADAMTS14c.3122A>T (p.Glu1041Val)
c.3131A>T (p.Glu1044Val)
c.2621A>T (p.Glu874Val)
c.2195A>T (p.Glu732Val)
c.1691A>T (p.Glu564Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758230G>ACA470056326ADAMTS14c.3123G>A (p.Glu1041=)
c.3132G>A (p.Glu1044=)
c.2622G>A (p.Glu874=)
c.2196G>A (p.Glu732=)
c.1692G>A (p.Glu564=)
10g.70758230G>CCA377109171ADAMTS14c.3123G>C (p.Glu1041Asp)
c.3132G>C (p.Glu1044Asp)
c.2622G>C (p.Glu874Asp)
c.2196G>C (p.Glu732Asp)
c.1692G>C (p.Glu564Asp)
10g.70758230G>TCA377109172ADAMTS14c.3123G>T (p.Glu1041Asp)
c.3132G>T (p.Glu1044Asp)
c.2622G>T (p.Glu874Asp)
c.2196G>T (p.Glu732Asp)
c.1692G>T (p.Glu564Asp)
10g.70758233delCA2722239142ADAMTS14c.3126del (p.Gln1043SerfsTer?)
c.3135del (p.Gln1046SerfsTer?)
c.2625del (p.Gln876SerfsTer?)
c.2199del (p.Gln734SerfsTer?)
c.1695del (p.Gln566SerfsTer?)
dbSNP
10g.70758231G>ACA377109173ADAMTS14c.3124G>A (p.Gly1042Arg)
c.3133G>A (p.Gly1045Arg)
c.2623G>A (p.Gly875Arg)
c.2197G>A (p.Gly733Arg)
c.1693G>A (p.Gly565Arg)
gnomAD v4 COSMIC
10g.70758231G>CCA377109174ADAMTS14c.3124G>C (p.Gly1042Arg)
c.3133G>C (p.Gly1045Arg)
c.2623G>C (p.Gly875Arg)
c.2197G>C (p.Gly733Arg)
c.1693G>C (p.Gly565Arg)
10g.70758231G>TCA377109175ADAMTS14c.3124G>T (p.Gly1042Trp)
c.3133G>T (p.Gly1045Trp)
c.2623G>T (p.Gly875Trp)
c.2197G>T (p.Gly733Trp)
c.1693G>T (p.Gly565Trp)
10g.70758232G>ACA377109176ADAMTS14c.3125G>A (p.Gly1042Glu)
c.3134G>A (p.Gly1045Glu)
c.2624G>A (p.Gly875Glu)
c.2198G>A (p.Gly733Glu)
c.1694G>A (p.Gly565Glu)
dbSNP
10g.70758232G>CCA377109177ADAMTS14c.3125G>C (p.Gly1042Ala)
c.3134G>C (p.Gly1045Ala)
c.2624G>C (p.Gly875Ala)
c.2198G>C (p.Gly733Ala)
c.1694G>C (p.Gly565Ala)
10g.70758232G=CA1918399723ADAMTS14c.3125G= (p.Gly1042=)
c.3134G= (p.Gly1045=)
c.2624G= (p.Gly875=)
c.2198G= (p.Gly733=)
c.1694G= (p.Gly565=)
10g.70758232G>TCA377109178ADAMTS14c.3125G>T (p.Gly1042Val)
c.3134G>T (p.Gly1045Val)
c.2624G>T (p.Gly875Val)
c.2198G>T (p.Gly733Val)
c.1694G>T (p.Gly565Val)
10g.70758233G>ACA470056327ADAMTS14c.3126G>A (p.Gly1042=)
c.3135G>A (p.Gly1045=)
c.2625G>A (p.Gly875=)
c.2199G>A (p.Gly733=)
c.1695G>A (p.Gly565=)
10g.70758233G>CCA470056329ADAMTS14c.3126G>C (p.Gly1042=)
c.3135G>C (p.Gly1045=)
c.2625G>C (p.Gly875=)
c.2199G>C (p.Gly733=)
c.1695G>C (p.Gly565=)
10g.70758233G>TCA470056328ADAMTS14c.3126G>T (p.Gly1042=)
c.3135G>T (p.Gly1045=)
c.2625G>T (p.Gly875=)
c.2199G>T (p.Gly733=)
c.1695G>T (p.Gly565=)
gnomAD v4 COSMIC
10g.70758234C>ACA377109179ADAMTS14c.3127C>A (p.Gln1043Lys)
c.3136C>A (p.Gln1046Lys)
c.2626C>A (p.Gln876Lys)
c.2200C>A (p.Gln734Lys)
c.1696C>A (p.Gln566Lys)
10g.70758234C>GCA377109180ADAMTS14c.3127C>G (p.Gln1043Glu)
c.3136C>G (p.Gln1046Glu)
c.2626C>G (p.Gln876Glu)
c.2200C>G (p.Gln734Glu)
c.1696C>G (p.Gln566Glu)
10g.70758234C>TCA377109181ADAMTS14c.3127C>T (p.Gln1043Ter)
c.3136C>T (p.Gln1046Ter)
c.2626C>T (p.Gln876Ter)
c.2200C>T (p.Gln734Ter)
c.1696C>T (p.Gln566Ter)
gnomAD v4
10g.70758235A>CCA377109182ADAMTS14c.3128A>C (p.Gln1043Pro)
c.3137A>C (p.Gln1046Pro)
c.2627A>C (p.Gln876Pro)
c.2201A>C (p.Gln734Pro)
c.1697A>C (p.Gln566Pro)
10g.70758235A>GCA377109183ADAMTS14c.3128A>G (p.Gln1043Arg)
c.3137A>G (p.Gln1046Arg)
c.2627A>G (p.Gln876Arg)
c.2201A>G (p.Gln734Arg)
c.1697A>G (p.Gln566Arg)
10g.70758235A>TCA377109184ADAMTS14c.3128A>T (p.Gln1043Leu)
c.3137A>T (p.Gln1046Leu)
c.2627A>T (p.Gln876Leu)
c.2201A>T (p.Gln734Leu)
c.1697A>T (p.Gln566Leu)
10g.70758236G>ACA5540346ADAMTS14c.3129G>A (p.Gln1043=)
c.3138G>A (p.Gln1046=)
c.2628G>A (p.Gln876=)
c.2202G>A (p.Gln734=)
c.1698G>A (p.Gln566=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758236G>CCA377109186ADAMTS14c.3129G>C (p.Gln1043His)
c.3138G>C (p.Gln1046His)
c.2628G>C (p.Gln876His)
c.2202G>C (p.Gln734His)
c.1698G>C (p.Gln566His)
10g.70758236G=CA1918399724ADAMTS14c.3129G= (p.Gln1043=)
c.3138G= (p.Gln1046=)
c.2628G= (p.Gln876=)
c.2202G= (p.Gln734=)
c.1698G= (p.Gln566=)
10g.70758236G>TCA377109185ADAMTS14c.3129G>T (p.Gln1043His)
c.3138G>T (p.Gln1046His)
c.2628G>T (p.Gln876His)
c.2202G>T (p.Gln734His)
c.1698G>T (p.Gln566His)
10g.70758237T>ACA377109187ADAMTS14c.3130T>A (p.Trp1044Arg)
c.3139T>A (p.Trp1047Arg)
c.2629T>A (p.Trp877Arg)
c.2203T>A (p.Trp735Arg)
c.1699T>A (p.Trp567Arg)
10g.70758237T>CCA377109188ADAMTS14c.3130T>C (p.Trp1044Arg)
c.3139T>C (p.Trp1047Arg)
c.2629T>C (p.Trp877Arg)
c.2203T>C (p.Trp735Arg)
c.1699T>C (p.Trp567Arg)
10g.70758237T>GCA377109189ADAMTS14c.3130T>G (p.Trp1044Gly)
c.3139T>G (p.Trp1047Gly)
c.2629T>G (p.Trp877Gly)
c.2203T>G (p.Trp735Gly)
c.1699T>G (p.Trp567Gly)
10g.70758238G>ACA377109190ADAMTS14c.3131G>A (p.Trp1044Ter)
c.3140G>A (p.Trp1047Ter)
c.2630G>A (p.Trp877Ter)
c.2204G>A (p.Trp735Ter)
c.1700G>A (p.Trp567Ter)
10g.70758238G>CCA377109191ADAMTS14c.3131G>C (p.Trp1044Ser)
c.3140G>C (p.Trp1047Ser)
c.2630G>C (p.Trp877Ser)
c.2204G>C (p.Trp735Ser)
c.1700G>C (p.Trp567Ser)
10g.70758238G>TCA377109192ADAMTS14c.3131G>T (p.Trp1044Leu)
c.3140G>T (p.Trp1047Leu)
c.2630G>T (p.Trp877Leu)
c.2204G>T (p.Trp735Leu)
c.1700G>T (p.Trp567Leu)
10g.70758239G>ACA377109193ADAMTS14c.3132G>A (p.Trp1044Ter)
c.3141G>A (p.Trp1047Ter)
c.2631G>A (p.Trp877Ter)
c.2205G>A (p.Trp735Ter)
c.1701G>A (p.Trp567Ter)
10g.70758239G>CCA377109194ADAMTS14c.3132G>C (p.Trp1044Cys)
c.3141G>C (p.Trp1047Cys)
c.2631G>C (p.Trp877Cys)
c.2205G>C (p.Trp735Cys)
c.1701G>C (p.Trp567Cys)
gnomAD v4
10g.70758239G>TCA377109195ADAMTS14c.3132G>T (p.Trp1044Cys)
c.3141G>T (p.Trp1047Cys)
c.2631G>T (p.Trp877Cys)
c.2205G>T (p.Trp735Cys)
c.1701G>T (p.Trp567Cys)
gnomAD v4
10g.70758240G>ACA377109196ADAMTS14c.3133G>A (p.Val1045Met)
c.3142G>A (p.Val1048Met)
c.2632G>A (p.Val878Met)
c.2206G>A (p.Val736Met)
c.1702G>A (p.Val568Met)
dbSNP gnomAD v2 gnomAD v4
10g.70758240G>CCA377109197ADAMTS14c.3133G>C (p.Val1045Leu)
c.3142G>C (p.Val1048Leu)
c.2632G>C (p.Val878Leu)
c.2206G>C (p.Val736Leu)
c.1702G>C (p.Val568Leu)
10g.70758240G=CA1918399725ADAMTS14c.3133G= (p.Val1045=)
c.3142G= (p.Val1048=)
c.2632G= (p.Val878=)
c.2206G= (p.Val736=)
c.1702G= (p.Val568=)
10g.70758240G>TCA377109198ADAMTS14c.3133G>T (p.Val1045Leu)
c.3142G>T (p.Val1048Leu)
c.2632G>T (p.Val878Leu)
c.2206G>T (p.Val736Leu)
c.1702G>T (p.Val568Leu)
dbSNP gnomAD v2 gnomAD v4
10g.70758241T>ACA377109199ADAMTS14c.3134T>A (p.Val1045Glu)
c.3143T>A (p.Val1048Glu)
c.2633T>A (p.Val878Glu)
c.2207T>A (p.Val736Glu)
c.1703T>A (p.Val568Glu)
10g.70758241T>CCA377109200ADAMTS14c.3134T>C (p.Val1045Ala)
c.3143T>C (p.Val1048Ala)
c.2633T>C (p.Val878Ala)
c.2207T>C (p.Val736Ala)
c.1703T>C (p.Val568Ala)
10g.70758241T>GCA377109201ADAMTS14c.3134T>G (p.Val1045Gly)
c.3143T>G (p.Val1048Gly)
c.2633T>G (p.Val878Gly)
c.2207T>G (p.Val736Gly)
c.1703T>G (p.Val568Gly)
10g.70758241T=CA1918399726ADAMTS14c.3134T= (p.Val1045=)
c.3143T= (p.Val1048=)
c.2633T= (p.Val878=)
c.2207T= (p.Val736=)
c.1703T= (p.Val568=)
10g.70758242G>ACA209416133ADAMTS14c.3135G>A (p.Val1045=)
c.3144G>A (p.Val1048=)
c.2634G>A (p.Val878=)
c.2208G>A (p.Val736=)
c.1704G>A (p.Val568=)
dbSNP
10g.70758242G>CCA470056330ADAMTS14c.3135G>C (p.Val1045=)
c.3144G>C (p.Val1048=)
c.2634G>C (p.Val878=)
c.2208G>C (p.Val736=)
c.1704G>C (p.Val568=)
10g.70758242G=CA1918399727ADAMTS14c.3135G= (p.Val1045=)
c.3144G= (p.Val1048=)
c.2634G= (p.Val878=)
c.2208G= (p.Val736=)
c.1704G= (p.Val568=)
10g.70758242G>TCA470056331ADAMTS14c.3135G>T (p.Val1045=)
c.3144G>T (p.Val1048=)
c.2634G>T (p.Val878=)
c.2208G>T (p.Val736=)
c.1704G>T (p.Val568=)
10g.70758242_70758244dupCA912970372ADAMTS14c.3135_3137dup (p.Pro1046_Gln1047insPro)
c.3144_3146dup (p.Pro1049_Gln1050insPro)
c.2634_2636dup (p.Pro879_Gln880insPro)
c.2208_2210dup (p.Pro737_Gln738insPro)
c.1704_1706dup (p.Pro569_Gln570insPro)
dbSNP gnomAD v4
10g.70758243C>ACA377109202ADAMTS14c.3136C>A (p.Pro1046Thr)
c.3145C>A (p.Pro1049Thr)
c.2635C>A (p.Pro879Thr)
c.2209C>A (p.Pro737Thr)
c.1705C>A (p.Pro569Thr)
10g.70758243C>GCA377109203ADAMTS14c.3136C>G (p.Pro1046Ala)
c.3145C>G (p.Pro1049Ala)
c.2635C>G (p.Pro879Ala)
c.2209C>G (p.Pro737Ala)
c.1705C>G (p.Pro569Ala)
10g.70758243C>TCA377109204ADAMTS14c.3136C>T (p.Pro1046Ser)
c.3145C>T (p.Pro1049Ser)
c.2635C>T (p.Pro879Ser)
c.2209C>T (p.Pro737Ser)
c.1705C>T (p.Pro569Ser)
10g.70758244C>ACA377109205ADAMTS14c.3137C>A (p.Pro1046Gln)
c.3146C>A (p.Pro1049Gln)
c.2636C>A (p.Pro879Gln)
c.2210C>A (p.Pro737Gln)
c.1706C>A (p.Pro569Gln)
10g.70758244C>GCA377109206ADAMTS14c.3137C>G (p.Pro1046Arg)
c.3146C>G (p.Pro1049Arg)
c.2636C>G (p.Pro879Arg)
c.2210C>G (p.Pro737Arg)
c.1706C>G (p.Pro569Arg)
10g.70758244C>TCA377109207ADAMTS14c.3137C>T (p.Pro1046Leu)
c.3146C>T (p.Pro1049Leu)
c.2636C>T (p.Pro879Leu)
c.2210C>T (p.Pro737Leu)
c.1706C>T (p.Pro569Leu)
COSMIC
10g.70758245A>CCA470056332ADAMTS14c.3138A>C (p.Pro1046=)
c.3147A>C (p.Pro1049=)
c.2637A>C (p.Pro879=)
c.2211A>C (p.Pro737=)
c.1707A>C (p.Pro569=)
10g.70758245A>GCA470056333ADAMTS14c.3138A>G (p.Pro1046=)
c.3147A>G (p.Pro1049=)
c.2637A>G (p.Pro879=)
c.2211A>G (p.Pro737=)
c.1707A>G (p.Pro569=)
10g.70758245A>TCA470056334ADAMTS14c.3138A>T (p.Pro1046=)
c.3147A>T (p.Pro1049=)
c.2637A>T (p.Pro879=)
c.2211A>T (p.Pro737=)
c.1707A>T (p.Pro569=)
10g.70758246C>ACA377109208ADAMTS14c.3139C>A (p.Gln1047Lys)
c.3148C>A (p.Gln1050Lys)
c.2638C>A (p.Gln880Lys)
c.2212C>A (p.Gln738Lys)
c.1708C>A (p.Gln570Lys)
10g.70758246C>GCA377109209ADAMTS14c.3139C>G (p.Gln1047Glu)
c.3148C>G (p.Gln1050Glu)
c.2638C>G (p.Gln880Glu)
c.2212C>G (p.Gln738Glu)
c.1708C>G (p.Gln570Glu)
10g.70758246C>TCA377109210ADAMTS14c.3139C>T (p.Gln1047Ter)
c.3148C>T (p.Gln1050Ter)
c.2638C>T (p.Gln880Ter)
c.2212C>T (p.Gln738Ter)
c.1708C>T (p.Gln570Ter)
10g.70758247A>CCA377109211ADAMTS14c.3140A>C (p.Gln1047Pro)
c.3149A>C (p.Gln1050Pro)
c.2639A>C (p.Gln880Pro)
c.2213A>C (p.Gln738Pro)
c.1709A>C (p.Gln570Pro)
10g.70758247A>GCA377109212ADAMTS14c.3140A>G (p.Gln1047Arg)
c.3149A>G (p.Gln1050Arg)
c.2639A>G (p.Gln880Arg)
c.2213A>G (p.Gln738Arg)
c.1709A>G (p.Gln570Arg)
10g.70758247A>TCA377109213ADAMTS14c.3140A>T (p.Gln1047Leu)
c.3149A>T (p.Gln1050Leu)
c.2639A>T (p.Gln880Leu)
c.2213A>T (p.Gln738Leu)
c.1709A>T (p.Gln570Leu)
10g.70758248A=CA1918399728ADAMTS14c.3141A= (p.Gln1047=)
c.3150A= (p.Gln1050=)
c.2640A= (p.Gln880=)
c.2214A= (p.Gln738=)
c.1710A= (p.Gln570=)
10g.70758248A>CCA377109214ADAMTS14c.3141A>C (p.Gln1047His)
c.3150A>C (p.Gln1050His)
c.2640A>C (p.Gln880His)
c.2214A>C (p.Gln738His)
c.1710A>C (p.Gln570His)
10g.70758248A>GCA470056343ADAMTS14c.3141A>G (p.Gln1047=)
c.3150A>G (p.Gln1050=)
c.2640A>G (p.Gln880=)
c.2214A>G (p.Gln738=)
c.1710A>G (p.Gln570=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758248A>TCA377109215ADAMTS14c.3141A>T (p.Gln1047His)
c.3150A>T (p.Gln1050His)
c.2640A>T (p.Gln880His)
c.2214A>T (p.Gln738His)
c.1710A>T (p.Gln570His)
10g.70758249T>ACA377109218ADAMTS14c.3142T>A (p.Ser1048Thr)
c.3151T>A (p.Ser1051Thr)
c.2641T>A (p.Ser881Thr)
c.2215T>A (p.Ser739Thr)
c.1711T>A (p.Ser571Thr)
10g.70758249T>CCA377109217ADAMTS14c.3142T>C (p.Ser1048Pro)
c.3151T>C (p.Ser1051Pro)
c.2641T>C (p.Ser881Pro)
c.2215T>C (p.Ser739Pro)
c.1711T>C (p.Ser571Pro)
10g.70758249T>GCA377109216ADAMTS14c.3142T>G (p.Ser1048Ala)
c.3151T>G (p.Ser1051Ala)
c.2641T>G (p.Ser881Ala)
c.2215T>G (p.Ser739Ala)
c.1711T>G (p.Ser571Ala)
10g.70758250C>ACA377109219ADAMTS14c.3143C>A (p.Ser1048Tyr)
c.3152C>A (p.Ser1051Tyr)
c.2642C>A (p.Ser881Tyr)
c.2216C>A (p.Ser739Tyr)
c.1712C>A (p.Ser571Tyr)
10g.70758250C>GCA377109221ADAMTS14c.3143C>G (p.Ser1048Cys)
c.3152C>G (p.Ser1051Cys)
c.2642C>G (p.Ser881Cys)
c.2216C>G (p.Ser739Cys)
c.1712C>G (p.Ser571Cys)
gnomAD v4
10g.70758250C>TCA377109220ADAMTS14c.3143C>T (p.Ser1048Phe)
c.3152C>T (p.Ser1051Phe)
c.2642C>T (p.Ser881Phe)
c.2216C>T (p.Ser739Phe)
c.1712C>T (p.Ser571Phe)
10g.70758251T>ACA470056352ADAMTS14c.3144T>A (p.Ser1048=)
c.3153T>A (p.Ser1051=)
c.2643T>A (p.Ser881=)
c.2217T>A (p.Ser739=)
c.1713T>A (p.Ser571=)
10g.70758251T>CCA470056353ADAMTS14c.3144T>C (p.Ser1048=)
c.3153T>C (p.Ser1051=)
c.2643T>C (p.Ser881=)
c.2217T>C (p.Ser739=)
c.1713T>C (p.Ser571=)
10g.70758251T>GCA470056355ADAMTS14c.3144T>G (p.Ser1048=)
c.3153T>G (p.Ser1051=)
c.2643T>G (p.Ser881=)
c.2217T>G (p.Ser739=)
c.1713T>G (p.Ser571=)
10g.70758252G>ACA377109222ADAMTS14c.3145G>A (p.Glu1049Lys)
c.3154G>A (p.Glu1052Lys)
c.2644G>A (p.Glu882Lys)
c.2218G>A (p.Glu740Lys)
c.1714G>A (p.Glu572Lys)
dbSNP
10g.70758252G>CCA377109224ADAMTS14c.3145G>C (p.Glu1049Gln)
c.3154G>C (p.Glu1052Gln)
c.2644G>C (p.Glu882Gln)
c.2218G>C (p.Glu740Gln)
c.1714G>C (p.Glu572Gln)
dbSNP
10g.70758252G=CA1918399729ADAMTS14c.3145G= (p.Glu1049=)
c.3154G= (p.Glu1052=)
c.2644G= (p.Glu882=)
c.2218G= (p.Glu740=)
c.1714G= (p.Glu572=)
10g.70758252G>TCA377109223ADAMTS14c.3145G>T (p.Glu1049Ter)
c.3154G>T (p.Glu1052Ter)
c.2644G>T (p.Glu882Ter)
c.2218G>T (p.Glu740Ter)
c.1714G>T (p.Glu572Ter)
10g.70758253A=CA1918399730ADAMTS14c.3146A= (p.Glu1049=)
c.3155A= (p.Glu1052=)
c.2645A= (p.Glu882=)
c.2219A= (p.Glu740=)
c.1715A= (p.Glu572=)
10g.70758253A>CCA377109225ADAMTS14c.3146A>C (p.Glu1049Ala)
c.3155A>C (p.Glu1052Ala)
c.2645A>C (p.Glu882Ala)
c.2219A>C (p.Glu740Ala)
c.1715A>C (p.Glu572Ala)
10g.70758253A>GCA5540347ADAMTS14c.3146A>G (p.Glu1049Gly)
c.3155A>G (p.Glu1052Gly)
c.2645A>G (p.Glu882Gly)
c.2219A>G (p.Glu740Gly)
c.1715A>G (p.Glu572Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758253A>TCA209416137ADAMTS14c.3146A>T (p.Glu1049Val)
c.3155A>T (p.Glu1052Val)
c.2645A>T (p.Glu882Val)
c.2219A>T (p.Glu740Val)
c.1715A>T (p.Glu572Val)
dbSNP

Number of alleles fetched