Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.70758081_70758084delCA2609526117ADAMTS14c.3057_3060del (p.Ala1020ValfsTer10)
c.3066_3069del (p.Ala1023ValfsTer10)
c.2556_2559del (p.Ala853ValfsTer10)
c.2130_2133del (p.Ala711ValfsTer10)
c.1626_1629del (p.Ala543ValfsTer10)
 gnomAD v4
10g.70758084C>ACA470056273ADAMTS14c.3060C>A (p.Ala1020=)
c.3069C>A (p.Ala1023=)
c.2559C>A (p.Ala853=)
c.2133C>A (p.Ala711=)
c.1629C>A (p.Ala543=)
 gnomAD v4
10g.70758084C>GCA470056275ADAMTS14c.3060C>G (p.Ala1020=)
c.3069C>G (p.Ala1023=)
c.2559C>G (p.Ala853=)
c.2133C>G (p.Ala711=)
c.1629C>G (p.Ala543=)
10g.70758084C>TCA470056274ADAMTS14c.3060C>T (p.Ala1020=)
c.3069C>T (p.Ala1023=)
c.2559C>T (p.Ala853=)
c.2133C>T (p.Ala711=)
c.1629C>T (p.Ala543=)
10g.70758085T>ACA377109023ADAMTS14c.3061T>A (p.Cys1021Ser)
c.3070T>A (p.Cys1024Ser)
c.2560T>A (p.Cys854Ser)
c.2134T>A (p.Cys712Ser)
c.1630T>A (p.Cys544Ser)
10g.70758085T>CCA377109024ADAMTS14c.3061T>C (p.Cys1021Arg)
c.3070T>C (p.Cys1024Arg)
c.2560T>C (p.Cys854Arg)
c.2134T>C (p.Cys712Arg)
c.1630T>C (p.Cys544Arg)
10g.70758085T>GCA377109025ADAMTS14c.3061T>G (p.Cys1021Gly)
c.3070T>G (p.Cys1024Gly)
c.2560T>G (p.Cys854Gly)
c.2134T>G (p.Cys712Gly)
c.1630T>G (p.Cys544Gly)
10g.70758086G>ACA377109026ADAMTS14c.3062G>A (p.Cys1021Tyr)
c.3071G>A (p.Cys1024Tyr)
c.2561G>A (p.Cys854Tyr)
c.2135G>A (p.Cys712Tyr)
c.1631G>A (p.Cys544Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.70758086G>CCA377109028ADAMTS14c.3062G>C (p.Cys1021Ser)
c.3071G>C (p.Cys1024Ser)
c.2561G>C (p.Cys854Ser)
c.2135G>C (p.Cys712Ser)
c.1631G>C (p.Cys544Ser)
10g.70758086G=CA1918399669ADAMTS14c.3062G= (p.Cys1021=)
c.3071G= (p.Cys1024=)
c.2561G= (p.Cys854=)
c.2135G= (p.Cys712=)
c.1631G= (p.Cys544=)
10g.70758086G>TCA377109027ADAMTS14c.3062G>T (p.Cys1021Phe)
c.3071G>T (p.Cys1024Phe)
c.2561G>T (p.Cys854Phe)
c.2135G>T (p.Cys712Phe)
c.1631G>T (p.Cys544Phe)
10g.70758087T>ACA377109029ADAMTS14c.3063T>A (p.Cys1021Ter)
c.3072T>A (p.Cys1024Ter)
c.2562T>A (p.Cys854Ter)
c.2136T>A (p.Cys712Ter)
c.1632T>A (p.Cys544Ter)
10g.70758087T>CCA470056276ADAMTS14c.3063T>C (p.Cys1021=)
c.3072T>C (p.Cys1024=)
c.2562T>C (p.Cys854=)
c.2136T>C (p.Cys712=)
c.1632T>C (p.Cys544=)
 dbSNP gnomAD v2 gnomAD v4
10g.70758087T>GCA377109030ADAMTS14c.3063T>G (p.Cys1021Trp)
c.3072T>G (p.Cys1024Trp)
c.2562T>G (p.Cys854Trp)
c.2136T>G (p.Cys712Trp)
c.1632T>G (p.Cys544Trp)
10g.70758087T=CA1918399670ADAMTS14c.3063T= (p.Cys1021=)
c.3072T= (p.Cys1024=)
c.2562T= (p.Cys854=)
c.2136T= (p.Cys712=)
c.1632T= (p.Cys544=)
10g.70758088G>ACA377109031ADAMTS14c.3064G>A (p.Gly1022Arg)
c.3073G>A (p.Gly1025Arg)
c.2563G>A (p.Gly855Arg)
c.2137G>A (p.Gly713Arg)
c.1633G>A (p.Gly545Arg)
10g.70758088G>CCA377109032ADAMTS14c.3064G>C (p.Gly1022Arg)
c.3073G>C (p.Gly1025Arg)
c.2563G>C (p.Gly855Arg)
c.2137G>C (p.Gly713Arg)
c.1633G>C (p.Gly545Arg)
10g.70758088G>TCA377109033ADAMTS14c.3064G>T (p.Gly1022Ter)
c.3073G>T (p.Gly1025Ter)
c.2563G>T (p.Gly855Ter)
c.2137G>T (p.Gly713Ter)
c.1633G>T (p.Gly545Ter)
10g.70758089G>ACA377109034ADAMTS14c.3065G>A (p.Gly1022Glu)
c.3074G>A (p.Gly1025Glu)
c.2564G>A (p.Gly855Glu)
c.2138G>A (p.Gly713Glu)
c.1634G>A (p.Gly545Glu)
10g.70758089G>CCA377109035ADAMTS14c.3065G>C (p.Gly1022Ala)
c.3074G>C (p.Gly1025Ala)
c.2564G>C (p.Gly855Ala)
c.2138G>C (p.Gly713Ala)
c.1634G>C (p.Gly545Ala)
10g.70758089G>TCA377109036ADAMTS14c.3065G>T (p.Gly1022Val)
c.3074G>T (p.Gly1025Val)
c.2564G>T (p.Gly855Val)
c.2138G>T (p.Gly713Val)
c.1634G>T (p.Gly545Val)
10g.70758090A=CA1918399671ADAMTS14c.3066A= (p.Gly1022=)
c.3075A= (p.Gly1025=)
c.2565A= (p.Gly855=)
c.2139A= (p.Gly713=)
c.1635A= (p.Gly545=)
10g.70758090A>CCA470056277ADAMTS14c.3066A>C (p.Gly1022=)
c.3075A>C (p.Gly1025=)
c.2565A>C (p.Gly855=)
c.2139A>C (p.Gly713=)
c.1635A>C (p.Gly545=)
 dbSNP gnomAD v2 gnomAD v4
10g.70758090A>GCA470056278ADAMTS14c.3066A>G (p.Gly1022=)
c.3075A>G (p.Gly1025=)
c.2565A>G (p.Gly855=)
c.2139A>G (p.Gly713=)
c.1635A>G (p.Gly545=)
 gnomAD v4
10g.70758090A>TCA470056279ADAMTS14c.3066A>T (p.Gly1022=)
c.3075A>T (p.Gly1025=)
c.2565A>T (p.Gly855=)
c.2139A>T (p.Gly713=)
c.1635A>T (p.Gly545=)
10g.70758091G>ACA377109037ADAMTS14c.3067G>A (p.Gly1023Arg)
c.3076G>A (p.Gly1026Arg)
c.2566G>A (p.Gly856Arg)
c.2140G>A (p.Gly714Arg)
c.1636G>A (p.Gly546Arg)
10g.70758091G>CCA377109038ADAMTS14c.3067G>C (p.Gly1023Arg)
c.3076G>C (p.Gly1026Arg)
c.2566G>C (p.Gly856Arg)
c.2140G>C (p.Gly714Arg)
c.1636G>C (p.Gly546Arg)
10g.70758091G>TCA377109039ADAMTS14c.3067G>T (p.Gly1023Ter)
c.3076G>T (p.Gly1026Ter)
c.2566G>T (p.Gly856Ter)
c.2140G>T (p.Gly714Ter)
c.1636G>T (p.Gly546Ter)
10g.70758092G>ACA377109042ADAMTS14c.3067+1G>A (n.3067+1G>A)
c.3076+1G>A (n.3076+1G>A)
c.2566+1G>A (n.2566+1G>A)
c.2140+1G>A (n.2140+1G>A)
c.1636+1G>A (n.1636+1G>A)
 COSMIC
10g.70758092G>CCA377109041ADAMTS14c.3067+1G>C (n.3067+1G>C)
c.3076+1G>C (n.3076+1G>C)
c.2566+1G>C (n.2566+1G>C)
c.2140+1G>C (n.2140+1G>C)
c.1636+1G>C (n.1636+1G>C)
10g.70758092G>TCA377109040ADAMTS14c.3067+1G>T (n.3067+1G>T)
c.3076+1G>T (n.3076+1G>T)
c.2566+1G>T (n.2566+1G>T)
c.2140+1G>T (n.2140+1G>T)
c.1636+1G>T (n.1636+1G>T)
10g.70758093T>ACA377109043ADAMTS14c.3067+2T>A (n.3067+2T>A)
c.3076+2T>A (n.3076+2T>A)
c.2566+2T>A (n.2566+2T>A)
c.2140+2T>A (n.2140+2T>A)
c.1636+2T>A (n.1636+2T>A)
10g.70758093T>CCA5540322ADAMTS14c.3067+2T>C (n.3067+2T>C)
c.3076+2T>C (n.3076+2T>C)
c.2566+2T>C (n.2566+2T>C)
c.2140+2T>C (n.2140+2T>C)
c.1636+2T>C (n.1636+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758093T>GCA377109044ADAMTS14c.3067+2T>G (n.3067+2T>G)
c.3076+2T>G (n.3076+2T>G)
c.2566+2T>G (n.2566+2T>G)
c.2140+2T>G (n.2140+2T>G)
c.1636+2T>G (n.1636+2T>G)
 dbSNP
10g.70758093T=CA1918399672ADAMTS14c.3067+2T= (n.3067+2T=)
c.3076+2T= (n.3076+2T=)
c.2566+2T= (n.2566+2T=)
c.2140+2T= (n.2140+2T=)
c.1636+2T= (n.1636+2T=)
10g.70758094G>ACA5540323ADAMTS14c.3067+3G>A (n.3067+3G>A)
c.3076+3G>A (n.3076+3G>A)
c.2566+3G>A (n.2566+3G>A)
c.2140+3G>A (n.2140+3G>A)
c.1636+3G>A (n.1636+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758094G>CCA1918399674ADAMTS14c.3067+3G>C (n.3067+3G>C)
c.3076+3G>C (n.3076+3G>C)
c.2566+3G>C (n.2566+3G>C)
c.2140+3G>C (n.2140+3G>C)
c.1636+3G>C (n.1636+3G>C)
 dbSNP
10g.70758094G=CA1918399673ADAMTS14c.3067+3G= (n.3067+3G=)
c.3076+3G= (n.3076+3G=)
c.2566+3G= (n.2566+3G=)
c.2140+3G= (n.2140+3G=)
c.1636+3G= (n.1636+3G=)
10g.70758096G>ACA594294177ADAMTS14c.3067+5G>A (n.3067+5G>A)
c.3076+5G>A (n.3076+5G>A)
c.2566+5G>A (n.2566+5G>A)
c.2140+5G>A (n.2140+5G>A)
c.1636+5G>A (n.1636+5G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.70758096G>CCA2788451771ADAMTS14c.3067+5G>C (n.3067+5G>C)
c.3076+5G>C (n.3076+5G>C)
c.2566+5G>C (n.2566+5G>C)
c.2140+5G>C (n.2140+5G>C)
c.1636+5G>C (n.1636+5G>C)
10g.70758096G=CA1918399675ADAMTS14c.3067+5G= (n.3067+5G=)
c.3076+5G= (n.3076+5G=)
c.2566+5G= (n.2566+5G=)
c.2140+5G= (n.2140+5G=)
c.1636+5G= (n.1636+5G=)
10g.70758097C>ACA2609526149ADAMTS14c.3067+6C>A (n.3067+6C>A)
c.3076+6C>A (n.3076+6C>A)
c.2566+6C>A (n.2566+6C>A)
c.2140+6C>A (n.2140+6C>A)
c.1636+6C>A (n.1636+6C>A)
 gnomAD v4
10g.70758098C>ACA929722585ADAMTS14c.3067+7C>A (n.3067+7C>A)
c.3076+7C>A (n.3076+7C>A)
c.2566+7C>A (n.2566+7C>A)
c.2140+7C>A (n.2140+7C>A)
c.1636+7C>A (n.1636+7C>A)
 dbSNP gnomAD v3 gnomAD v4
10g.70758098C=CA1918399676ADAMTS14c.3067+7C= (n.3067+7C=)
c.3076+7C= (n.3076+7C=)
c.2566+7C= (n.2566+7C=)
c.2140+7C= (n.2140+7C=)
c.1636+7C= (n.1636+7C=)
10g.70758100G>CCA594294178ADAMTS14c.3067+9G>C (n.3067+9G>C)
c.3076+9G>C (n.3076+9G>C)
c.2566+9G>C (n.2566+9G>C)
c.2140+9G>C (n.2140+9G>C)
c.1636+9G>C (n.1636+9G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758100G=CA1918399677ADAMTS14c.3067+9G= (n.3067+9G=)
c.3076+9G= (n.3076+9G=)
c.2566+9G= (n.2566+9G=)
c.2140+9G= (n.2140+9G=)
c.1636+9G= (n.1636+9G=)
10g.70758102G>TCA2609526150ADAMTS14c.3067+11G>T (n.3067+11G>T)
c.3076+11G>T (n.3076+11G>T)
c.2566+11G>T (n.2566+11G>T)
c.2140+11G>T (n.2140+11G>T)
c.1636+11G>T (n.1636+11G>T)
 gnomAD v4
10g.70758103G=CA1918399678ADAMTS14c.3067+12G= (n.3067+12G=)
c.3076+12G= (n.3076+12G=)
c.2566+12G= (n.2566+12G=)
c.2140+12G= (n.2140+12G=)
c.1636+12G= (n.1636+12G=)
10g.70758103G>TCA5540324ADAMTS14c.3067+12G>T (n.3067+12G>T)
c.3076+12G>T (n.3076+12G>T)
c.2566+12G>T (n.2566+12G>T)
c.2140+12G>T (n.2140+12G>T)
c.1636+12G>T (n.1636+12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758105G>CCA1918399680ADAMTS14c.3067+14G>C (n.3067+14G>C)
c.3076+14G>C (n.3076+14G>C)
c.2566+14G>C (n.2566+14G>C)
c.2140+14G>C (n.2140+14G>C)
c.1636+14G>C (n.1636+14G>C)
 dbSNP

Number of alleles fetched