Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.100048805_100048806insCCA2805445421ADAMTS17c.2591+51_2591+52insG (n.2591+51_2591+52insG)
c.2672+51_2672+52insG (n.2672+51_2672+52insG)
c.2741+51_2741+52insG (n.2741+51_2741+52insG)
c.2873+51_2873+52insG (n.2873+51_2873+52insG)
c.2804+51_2804+52insG (n.2804+51_2804+52insG)
c.2144+51_2144+52insG (n.2144+51_2144+52insG)
c.1775+51_1775+52insG (n.1775+51_1775+52insG)
c.1553+51_1553+52insG (n.1553+51_1553+52insG)
c.1262+51_1262+52insG (n.1262+51_1262+52insG)
c.1046+51_1046+52insG (n.1046+51_1046+52insG)
15g.100048807C=CA2199825531ADAMTS17c.2591+50G= (n.2591+50G=)
c.2672+50G= (n.2672+50G=)
c.2741+50G= (n.2741+50G=)
c.2873+50G= (n.2873+50G=)
c.2804+50G= (n.2804+50G=)
c.2144+50G= (n.2144+50G=)
c.1775+50G= (n.1775+50G=)
c.1553+50G= (n.1553+50G=)
c.1262+50G= (n.1262+50G=)
c.1046+50G= (n.1046+50G=)
15g.100048807C>GCA620083755ADAMTS17c.2591+50G>C (n.2591+50G>C)
c.2672+50G>C (n.2672+50G>C)
c.2741+50G>C (n.2741+50G>C)
c.2873+50G>C (n.2873+50G>C)
c.2804+50G>C (n.2804+50G>C)
c.2144+50G>C (n.2144+50G>C)
c.1775+50G>C (n.1775+50G>C)
c.1553+50G>C (n.1553+50G>C)
c.1262+50G>C (n.1262+50G>C)
c.1046+50G>C (n.1046+50G>C)
 dbSNP gnomAD v2 gnomAD v4
15g.100048807C>TCA620083759ADAMTS17c.2591+50G>A (n.2591+50G>A)
c.2672+50G>A (n.2672+50G>A)
c.2741+50G>A (n.2741+50G>A)
c.2873+50G>A (n.2873+50G>A)
c.2804+50G>A (n.2804+50G>A)
c.2144+50G>A (n.2144+50G>A)
c.1775+50G>A (n.1775+50G>A)
c.1553+50G>A (n.1553+50G>A)
c.1262+50G>A (n.1262+50G>A)
c.1046+50G>A (n.1046+50G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.100048807_100048808insCGTATCATTAAAAAAAAAACCA2805445422ADAMTS17c.2591+50_2591+51insTTTTTTTTTTAATGATACGG (n.2591+50_2591+51insTTTTTTTTTTAATGATACGG)
c.2672+50_2672+51insTTTTTTTTTTAATGATACGG (n.2672+50_2672+51insTTTTTTTTTTAATGATACGG)
c.2741+50_2741+51insTTTTTTTTTTAATGATACGG (n.2741+50_2741+51insTTTTTTTTTTAATGATACGG)
c.2873+50_2873+51insTTTTTTTTTTAATGATACGG (n.2873+50_2873+51insTTTTTTTTTTAATGATACGG)
c.2804+50_2804+51insTTTTTTTTTTAATGATACGG (n.2804+50_2804+51insTTTTTTTTTTAATGATACGG)
c.2144+50_2144+51insTTTTTTTTTTAATGATACGG (n.2144+50_2144+51insTTTTTTTTTTAATGATACGG)
c.1775+50_1775+51insTTTTTTTTTTAATGATACGG (n.1775+50_1775+51insTTTTTTTTTTAATGATACGG)
c.1553+50_1553+51insTTTTTTTTTTAATGATACGG (n.1553+50_1553+51insTTTTTTTTTTAATGATACGG)
c.1262+50_1262+51insTTTTTTTTTTAATGATACGG (n.1262+50_1262+51insTTTTTTTTTTAATGATACGG)
c.1046+50_1046+51insTTTTTTTTTTAATGATACGG (n.1046+50_1046+51insTTTTTTTTTTAATGATACGG)
15g.100048808T>GCA2630606047ADAMTS17c.2591+49A>C (n.2591+49A>C)
c.2672+49A>C (n.2672+49A>C)
c.2741+49A>C (n.2741+49A>C)
c.2873+49A>C (n.2873+49A>C)
c.2804+49A>C (n.2804+49A>C)
c.2144+49A>C (n.2144+49A>C)
c.1775+49A>C (n.1775+49A>C)
c.1553+49A>C (n.1553+49A>C)
c.1262+49A>C (n.1262+49A>C)
c.1046+49A>C (n.1046+49A>C)
 gnomAD v4
15g.100048811C=CA2199825532ADAMTS17c.2591+46G= (n.2591+46G=)
c.2672+46G= (n.2672+46G=)
c.2741+46G= (n.2741+46G=)
c.2873+46G= (n.2873+46G=)
c.2804+46G= (n.2804+46G=)
c.2144+46G= (n.2144+46G=)
c.1775+46G= (n.1775+46G=)
c.1553+46G= (n.1553+46G=)
c.1262+46G= (n.1262+46G=)
c.1046+46G= (n.1046+46G=)
15g.100048811C>TCA7757668ADAMTS17c.2591+46G>A (n.2591+46G>A)
c.2672+46G>A (n.2672+46G>A)
c.2741+46G>A (n.2741+46G>A)
c.2873+46G>A (n.2873+46G>A)
c.2804+46G>A (n.2804+46G>A)
c.2144+46G>A (n.2144+46G>A)
c.1775+46G>A (n.1775+46G>A)
c.1553+46G>A (n.1553+46G>A)
c.1262+46G>A (n.1262+46G>A)
c.1046+46G>A (n.1046+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048812G>ACA7757669ADAMTS17c.2591+45C>T (n.2591+45C>T)
c.2672+45C>T (n.2672+45C>T)
c.2741+45C>T (n.2741+45C>T)
c.2873+45C>T (n.2873+45C>T)
c.2804+45C>T (n.2804+45C>T)
c.2144+45C>T (n.2144+45C>T)
c.1775+45C>T (n.1775+45C>T)
c.1553+45C>T (n.1553+45C>T)
c.1262+45C>T (n.1262+45C>T)
c.1046+45C>T (n.1046+45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048812G=CA2199825533ADAMTS17c.2591+45C= (n.2591+45C=)
c.2672+45C= (n.2672+45C=)
c.2741+45C= (n.2741+45C=)
c.2873+45C= (n.2873+45C=)
c.2804+45C= (n.2804+45C=)
c.2144+45C= (n.2144+45C=)
c.1775+45C= (n.1775+45C=)
c.1553+45C= (n.1553+45C=)
c.1262+45C= (n.1262+45C=)
c.1046+45C= (n.1046+45C=)
15g.100048814C>TCA2630606048ADAMTS17c.2591+43G>A (n.2591+43G>A)
c.2672+43G>A (n.2672+43G>A)
c.2741+43G>A (n.2741+43G>A)
c.2873+43G>A (n.2873+43G>A)
c.2804+43G>A (n.2804+43G>A)
c.2144+43G>A (n.2144+43G>A)
c.1775+43G>A (n.1775+43G>A)
c.1553+43G>A (n.1553+43G>A)
c.1262+43G>A (n.1262+43G>A)
c.1046+43G>A (n.1046+43G>A)
 gnomAD v4
15g.100048815C>ACA620083767ADAMTS17c.2591+42G>T (n.2591+42G>T)
c.2672+42G>T (n.2672+42G>T)
c.2741+42G>T (n.2741+42G>T)
c.2873+42G>T (n.2873+42G>T)
c.2804+42G>T (n.2804+42G>T)
c.2144+42G>T (n.2144+42G>T)
c.1775+42G>T (n.1775+42G>T)
c.1553+42G>T (n.1553+42G>T)
c.1262+42G>T (n.1262+42G>T)
c.1046+42G>T (n.1046+42G>T)
 dbSNP gnomAD v2 gnomAD v4
15g.100048815C=CA2199825534ADAMTS17c.2591+42G= (n.2591+42G=)
c.2672+42G= (n.2672+42G=)
c.2741+42G= (n.2741+42G=)
c.2873+42G= (n.2873+42G=)
c.2804+42G= (n.2804+42G=)
c.2144+42G= (n.2144+42G=)
c.1775+42G= (n.1775+42G=)
c.1553+42G= (n.1553+42G=)
c.1262+42G= (n.1262+42G=)
c.1046+42G= (n.1046+42G=)
15g.100048816C=CA2199825535ADAMTS17c.2591+41G= (n.2591+41G=)
c.2672+41G= (n.2672+41G=)
c.2741+41G= (n.2741+41G=)
c.2873+41G= (n.2873+41G=)
c.2804+41G= (n.2804+41G=)
c.2144+41G= (n.2144+41G=)
c.1775+41G= (n.1775+41G=)
c.1553+41G= (n.1553+41G=)
c.1262+41G= (n.1262+41G=)
c.1046+41G= (n.1046+41G=)
15g.100048816C>GCA2630606049ADAMTS17c.2591+41G>C (n.2591+41G>C)
c.2672+41G>C (n.2672+41G>C)
c.2741+41G>C (n.2741+41G>C)
c.2873+41G>C (n.2873+41G>C)
c.2804+41G>C (n.2804+41G>C)
c.2144+41G>C (n.2144+41G>C)
c.1775+41G>C (n.1775+41G>C)
c.1553+41G>C (n.1553+41G>C)
c.1262+41G>C (n.1262+41G>C)
c.1046+41G>C (n.1046+41G>C)
 gnomAD v4
15g.100048816C>TCA620083771ADAMTS17c.2591+41G>A (n.2591+41G>A)
c.2672+41G>A (n.2672+41G>A)
c.2741+41G>A (n.2741+41G>A)
c.2873+41G>A (n.2873+41G>A)
c.2804+41G>A (n.2804+41G>A)
c.2144+41G>A (n.2144+41G>A)
c.1775+41G>A (n.1775+41G>A)
c.1553+41G>A (n.1553+41G>A)
c.1262+41G>A (n.1262+41G>A)
c.1046+41G>A (n.1046+41G>A)
 dbSNP gnomAD v2
15g.100048818G>ACA275472881ADAMTS17c.2591+39C>T (n.2591+39C>T)
c.2672+39C>T (n.2672+39C>T)
c.2741+39C>T (n.2741+39C>T)
c.2873+39C>T (n.2873+39C>T)
c.2804+39C>T (n.2804+39C>T)
c.2144+39C>T (n.2144+39C>T)
c.1775+39C>T (n.1775+39C>T)
c.1553+39C>T (n.1553+39C>T)
c.1262+39C>T (n.1262+39C>T)
c.1046+39C>T (n.1046+39C>T)
 dbSNP gnomAD v4
15g.100048818G>CCA2805445423ADAMTS17c.2591+39C>G (n.2591+39C>G)
c.2672+39C>G (n.2672+39C>G)
c.2741+39C>G (n.2741+39C>G)
c.2873+39C>G (n.2873+39C>G)
c.2804+39C>G (n.2804+39C>G)
c.2144+39C>G (n.2144+39C>G)
c.1775+39C>G (n.1775+39C>G)
c.1553+39C>G (n.1553+39C>G)
c.1262+39C>G (n.1262+39C>G)
c.1046+39C>G (n.1046+39C>G)
15g.100048818G=CA2199825536ADAMTS17c.2591+39C= (n.2591+39C=)
c.2672+39C= (n.2672+39C=)
c.2741+39C= (n.2741+39C=)
c.2873+39C= (n.2873+39C=)
c.2804+39C= (n.2804+39C=)
c.2144+39C= (n.2144+39C=)
c.1775+39C= (n.1775+39C=)
c.1553+39C= (n.1553+39C=)
c.1262+39C= (n.1262+39C=)
c.1046+39C= (n.1046+39C=)
15g.100048818G>TCA2630606050ADAMTS17c.2591+39C>A (n.2591+39C>A)
c.2672+39C>A (n.2672+39C>A)
c.2741+39C>A (n.2741+39C>A)
c.2873+39C>A (n.2873+39C>A)
c.2804+39C>A (n.2804+39C>A)
c.2144+39C>A (n.2144+39C>A)
c.1775+39C>A (n.1775+39C>A)
c.1553+39C>A (n.1553+39C>A)
c.1262+39C>A (n.1262+39C>A)
c.1046+39C>A (n.1046+39C>A)
 gnomAD v4
15g.100048820C=CA2199825537ADAMTS17c.2591+37G= (n.2591+37G=)
c.2672+37G= (n.2672+37G=)
c.2741+37G= (n.2741+37G=)
c.2873+37G= (n.2873+37G=)
c.2804+37G= (n.2804+37G=)
c.2144+37G= (n.2144+37G=)
c.1775+37G= (n.1775+37G=)
c.1553+37G= (n.1553+37G=)
c.1262+37G= (n.1262+37G=)
c.1046+37G= (n.1046+37G=)
15g.100048820C>TCA7757670ADAMTS17c.2591+37G>A (n.2591+37G>A)
c.2672+37G>A (n.2672+37G>A)
c.2741+37G>A (n.2741+37G>A)
c.2873+37G>A (n.2873+37G>A)
c.2804+37G>A (n.2804+37G>A)
c.2144+37G>A (n.2144+37G>A)
c.1775+37G>A (n.1775+37G>A)
c.1553+37G>A (n.1553+37G>A)
c.1262+37G>A (n.1262+37G>A)
c.1046+37G>A (n.1046+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048821T>ACA275472901ADAMTS17c.2591+36A>T (n.2591+36A>T)
c.2672+36A>T (n.2672+36A>T)
c.2741+36A>T (n.2741+36A>T)
c.2873+36A>T (n.2873+36A>T)
c.2804+36A>T (n.2804+36A>T)
c.2144+36A>T (n.2144+36A>T)
c.1775+36A>T (n.1775+36A>T)
c.1553+36A>T (n.1553+36A>T)
c.1262+36A>T (n.1262+36A>T)
c.1046+36A>T (n.1046+36A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.100048821T>CCA2630606051ADAMTS17c.2591+36A>G (n.2591+36A>G)
c.2672+36A>G (n.2672+36A>G)
c.2741+36A>G (n.2741+36A>G)
c.2873+36A>G (n.2873+36A>G)
c.2804+36A>G (n.2804+36A>G)
c.2144+36A>G (n.2144+36A>G)
c.1775+36A>G (n.1775+36A>G)
c.1553+36A>G (n.1553+36A>G)
c.1262+36A>G (n.1262+36A>G)
c.1046+36A>G (n.1046+36A>G)
 gnomAD v4
15g.100048821T=CA2199825538ADAMTS17c.2591+36A= (n.2591+36A=)
c.2672+36A= (n.2672+36A=)
c.2741+36A= (n.2741+36A=)
c.2873+36A= (n.2873+36A=)
c.2804+36A= (n.2804+36A=)
c.2144+36A= (n.2144+36A=)
c.1775+36A= (n.1775+36A=)
c.1553+36A= (n.1553+36A=)
c.1262+36A= (n.1262+36A=)
c.1046+36A= (n.1046+36A=)
15g.100048822C>GCA2630606052ADAMTS17c.2591+35G>C (n.2591+35G>C)
c.2672+35G>C (n.2672+35G>C)
c.2741+35G>C (n.2741+35G>C)
c.2873+35G>C (n.2873+35G>C)
c.2804+35G>C (n.2804+35G>C)
c.2144+35G>C (n.2144+35G>C)
c.1775+35G>C (n.1775+35G>C)
c.1553+35G>C (n.1553+35G>C)
c.1262+35G>C (n.1262+35G>C)
c.1046+35G>C (n.1046+35G>C)
 gnomAD v4
15g.100048823T>CCA7757671ADAMTS17c.2591+34A>G (n.2591+34A>G)
c.2672+34A>G (n.2672+34A>G)
c.2741+34A>G (n.2741+34A>G)
c.2873+34A>G (n.2873+34A>G)
c.2804+34A>G (n.2804+34A>G)
c.2144+34A>G (n.2144+34A>G)
c.1775+34A>G (n.1775+34A>G)
c.1553+34A>G (n.1553+34A>G)
c.1262+34A>G (n.1262+34A>G)
c.1046+34A>G (n.1046+34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048823T=CA2199825539ADAMTS17c.2591+34A= (n.2591+34A=)
c.2672+34A= (n.2672+34A=)
c.2741+34A= (n.2741+34A=)
c.2873+34A= (n.2873+34A=)
c.2804+34A= (n.2804+34A=)
c.2144+34A= (n.2144+34A=)
c.1775+34A= (n.1775+34A=)
c.1553+34A= (n.1553+34A=)
c.1262+34A= (n.1262+34A=)
c.1046+34A= (n.1046+34A=)
15g.100048824G>ACA2630606054ADAMTS17c.2591+33C>T (n.2591+33C>T)
c.2672+33C>T (n.2672+33C>T)
c.2741+33C>T (n.2741+33C>T)
c.2873+33C>T (n.2873+33C>T)
c.2804+33C>T (n.2804+33C>T)
c.2144+33C>T (n.2144+33C>T)
c.1775+33C>T (n.1775+33C>T)
c.1553+33C>T (n.1553+33C>T)
c.1262+33C>T (n.1262+33C>T)
c.1046+33C>T (n.1046+33C>T)
 gnomAD v4
15g.100048824G>TCA2630606053ADAMTS17c.2591+33C>A (n.2591+33C>A)
c.2672+33C>A (n.2672+33C>A)
c.2741+33C>A (n.2741+33C>A)
c.2873+33C>A (n.2873+33C>A)
c.2804+33C>A (n.2804+33C>A)
c.2144+33C>A (n.2144+33C>A)
c.1775+33C>A (n.1775+33C>A)
c.1553+33C>A (n.1553+33C>A)
c.1262+33C>A (n.1262+33C>A)
c.1046+33C>A (n.1046+33C>A)
 gnomAD v4
15g.100048826T>CCA620083776ADAMTS17c.2591+31A>G (n.2591+31A>G)
c.2672+31A>G (n.2672+31A>G)
c.2741+31A>G (n.2741+31A>G)
c.2873+31A>G (n.2873+31A>G)
c.2804+31A>G (n.2804+31A>G)
c.2144+31A>G (n.2144+31A>G)
c.1775+31A>G (n.1775+31A>G)
c.1553+31A>G (n.1553+31A>G)
c.1262+31A>G (n.1262+31A>G)
c.1046+31A>G (n.1046+31A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.100048826T>GCA2199825541ADAMTS17c.2591+31A>C (n.2591+31A>C)
c.2672+31A>C (n.2672+31A>C)
c.2741+31A>C (n.2741+31A>C)
c.2873+31A>C (n.2873+31A>C)
c.2804+31A>C (n.2804+31A>C)
c.2144+31A>C (n.2144+31A>C)
c.1775+31A>C (n.1775+31A>C)
c.1553+31A>C (n.1553+31A>C)
c.1262+31A>C (n.1262+31A>C)
c.1046+31A>C (n.1046+31A>C)
 dbSNP
15g.100048826T=CA2199825540ADAMTS17c.2591+31A= (n.2591+31A=)
c.2672+31A= (n.2672+31A=)
c.2741+31A= (n.2741+31A=)
c.2873+31A= (n.2873+31A=)
c.2804+31A= (n.2804+31A=)
c.2144+31A= (n.2144+31A=)
c.1775+31A= (n.1775+31A=)
c.1553+31A= (n.1553+31A=)
c.1262+31A= (n.1262+31A=)
c.1046+31A= (n.1046+31A=)
15g.100048827G>TCA2575845736ADAMTS17c.2591+30C>A (n.2591+30C>A)
c.2672+30C>A (n.2672+30C>A)
c.2741+30C>A (n.2741+30C>A)
c.2873+30C>A (n.2873+30C>A)
c.2804+30C>A (n.2804+30C>A)
c.2144+30C>A (n.2144+30C>A)
c.1775+30C>A (n.1775+30C>A)
c.1553+30C>A (n.1553+30C>A)
c.1262+30C>A (n.1262+30C>A)
c.1046+30C>A (n.1046+30C>A)
15g.100048828G>ACA2630606055ADAMTS17c.2591+29C>T (n.2591+29C>T)
c.2672+29C>T (n.2672+29C>T)
c.2741+29C>T (n.2741+29C>T)
c.2873+29C>T (n.2873+29C>T)
c.2804+29C>T (n.2804+29C>T)
c.2144+29C>T (n.2144+29C>T)
c.1775+29C>T (n.1775+29C>T)
c.1553+29C>T (n.1553+29C>T)
c.1262+29C>T (n.1262+29C>T)
c.1046+29C>T (n.1046+29C>T)
 gnomAD v4
15g.100048829G>ACA2630606056ADAMTS17c.2591+28C>T (n.2591+28C>T)
c.2672+28C>T (n.2672+28C>T)
c.2741+28C>T (n.2741+28C>T)
c.2873+28C>T (n.2873+28C>T)
c.2804+28C>T (n.2804+28C>T)
c.2144+28C>T (n.2144+28C>T)
c.1775+28C>T (n.1775+28C>T)
c.1553+28C>T (n.1553+28C>T)
c.1262+28C>T (n.1262+28C>T)
c.1046+28C>T (n.1046+28C>T)
 gnomAD v4
15g.100048829G=CA2199825542ADAMTS17c.2591+28C= (n.2591+28C=)
c.2672+28C= (n.2672+28C=)
c.2741+28C= (n.2741+28C=)
c.2873+28C= (n.2873+28C=)
c.2804+28C= (n.2804+28C=)
c.2144+28C= (n.2144+28C=)
c.1775+28C= (n.1775+28C=)
c.1553+28C= (n.1553+28C=)
c.1262+28C= (n.1262+28C=)
c.1046+28C= (n.1046+28C=)
15g.100048829G>TCA7757672ADAMTS17c.2591+28C>A (n.2591+28C>A)
c.2672+28C>A (n.2672+28C>A)
c.2741+28C>A (n.2741+28C>A)
c.2873+28C>A (n.2873+28C>A)
c.2804+28C>A (n.2804+28C>A)
c.2144+28C>A (n.2144+28C>A)
c.1775+28C>A (n.1775+28C>A)
c.1553+28C>A (n.1553+28C>A)
c.1262+28C>A (n.1262+28C>A)
c.1046+28C>A (n.1046+28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048831C>GCA2630606057ADAMTS17c.2591+26G>C (n.2591+26G>C)
c.2672+26G>C (n.2672+26G>C)
c.2741+26G>C (n.2741+26G>C)
c.2873+26G>C (n.2873+26G>C)
c.2804+26G>C (n.2804+26G>C)
c.2144+26G>C (n.2144+26G>C)
c.1775+26G>C (n.1775+26G>C)
c.1553+26G>C (n.1553+26G>C)
c.1262+26G>C (n.1262+26G>C)
c.1046+26G>C (n.1046+26G>C)
 gnomAD v4
15g.100048834A=CA2199825543ADAMTS17c.2591+23T= (n.2591+23T=)
c.2672+23T= (n.2672+23T=)
c.2741+23T= (n.2741+23T=)
c.2873+23T= (n.2873+23T=)
c.2804+23T= (n.2804+23T=)
c.2144+23T= (n.2144+23T=)
c.1775+23T= (n.1775+23T=)
c.1553+23T= (n.1553+23T=)
c.1262+23T= (n.1262+23T=)
c.1046+23T= (n.1046+23T=)
15g.100048834A>GCA2199825544ADAMTS17c.2591+23T>C (n.2591+23T>C)
c.2672+23T>C (n.2672+23T>C)
c.2741+23T>C (n.2741+23T>C)
c.2873+23T>C (n.2873+23T>C)
c.2804+23T>C (n.2804+23T>C)
c.2144+23T>C (n.2144+23T>C)
c.1775+23T>C (n.1775+23T>C)
c.1553+23T>C (n.1553+23T>C)
c.1262+23T>C (n.1262+23T>C)
c.1046+23T>C (n.1046+23T>C)
 dbSNP
15g.100048836C=CA2199825545ADAMTS17c.2591+21G= (n.2591+21G=)
c.2672+21G= (n.2672+21G=)
c.2741+21G= (n.2741+21G=)
c.2873+21G= (n.2873+21G=)
c.2804+21G= (n.2804+21G=)
c.2144+21G= (n.2144+21G=)
c.1775+21G= (n.1775+21G=)
c.1553+21G= (n.1553+21G=)
c.1262+21G= (n.1262+21G=)
c.1046+21G= (n.1046+21G=)
15g.100048836C>GCA7757673ADAMTS17c.2591+21G>C (n.2591+21G>C)
c.2672+21G>C (n.2672+21G>C)
c.2741+21G>C (n.2741+21G>C)
c.2873+21G>C (n.2873+21G>C)
c.2804+21G>C (n.2804+21G>C)
c.2144+21G>C (n.2144+21G>C)
c.1775+21G>C (n.1775+21G>C)
c.1553+21G>C (n.1553+21G>C)
c.1262+21G>C (n.1262+21G>C)
c.1046+21G>C (n.1046+21G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048836C>TCA2630606058ADAMTS17c.2591+21G>A (n.2591+21G>A)
c.2672+21G>A (n.2672+21G>A)
c.2741+21G>A (n.2741+21G>A)
c.2873+21G>A (n.2873+21G>A)
c.2804+21G>A (n.2804+21G>A)
c.2144+21G>A (n.2144+21G>A)
c.1775+21G>A (n.1775+21G>A)
c.1553+21G>A (n.1553+21G>A)
c.1262+21G>A (n.1262+21G>A)
c.1046+21G>A (n.1046+21G>A)
 gnomAD v4
15g.100048838A=CA2199825546ADAMTS17c.2591+19T= (n.2591+19T=)
c.2672+19T= (n.2672+19T=)
c.2741+19T= (n.2741+19T=)
c.2873+19T= (n.2873+19T=)
c.2804+19T= (n.2804+19T=)
c.2144+19T= (n.2144+19T=)
c.1775+19T= (n.1775+19T=)
c.1553+19T= (n.1553+19T=)
c.1262+19T= (n.1262+19T=)
c.1046+19T= (n.1046+19T=)
15g.100048838A>GCA7757674ADAMTS17c.2591+19T>C (n.2591+19T>C)
c.2672+19T>C (n.2672+19T>C)
c.2741+19T>C (n.2741+19T>C)
c.2873+19T>C (n.2873+19T>C)
c.2804+19T>C (n.2804+19T>C)
c.2144+19T>C (n.2144+19T>C)
c.1775+19T>C (n.1775+19T>C)
c.1553+19T>C (n.1553+19T>C)
c.1262+19T>C (n.1262+19T>C)
c.1046+19T>C (n.1046+19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048839C>TCA2805445424ADAMTS17c.2591+18G>A (n.2591+18G>A)
c.2672+18G>A (n.2672+18G>A)
c.2741+18G>A (n.2741+18G>A)
c.2873+18G>A (n.2873+18G>A)
c.2804+18G>A (n.2804+18G>A)
c.2144+18G>A (n.2144+18G>A)
c.1775+18G>A (n.1775+18G>A)
c.1553+18G>A (n.1553+18G>A)
c.1262+18G>A (n.1262+18G>A)
c.1046+18G>A (n.1046+18G>A)
15g.100048841G>ACA620083780ADAMTS17c.2591+16C>T (n.2591+16C>T)
c.2672+16C>T (n.2672+16C>T)
c.2741+16C>T (n.2741+16C>T)
c.2873+16C>T (n.2873+16C>T)
c.2804+16C>T (n.2804+16C>T)
c.2144+16C>T (n.2144+16C>T)
c.1775+16C>T (n.1775+16C>T)
c.1553+16C>T (n.1553+16C>T)
c.1262+16C>T (n.1262+16C>T)
c.1046+16C>T (n.1046+16C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.100048841G=CA2199825547ADAMTS17c.2591+16C= (n.2591+16C=)
c.2672+16C= (n.2672+16C=)
c.2741+16C= (n.2741+16C=)
c.2873+16C= (n.2873+16C=)
c.2804+16C= (n.2804+16C=)
c.2144+16C= (n.2144+16C=)
c.1775+16C= (n.1775+16C=)
c.1553+16C= (n.1553+16C=)
c.1262+16C= (n.1262+16C=)
c.1046+16C= (n.1046+16C=)
15g.100048842A>CCA2630606059ADAMTS17c.2591+15T>G (n.2591+15T>G)
c.2672+15T>G (n.2672+15T>G)
c.2741+15T>G (n.2741+15T>G)
c.2873+15T>G (n.2873+15T>G)
c.2804+15T>G (n.2804+15T>G)
c.2144+15T>G (n.2144+15T>G)
c.1775+15T>G (n.1775+15T>G)
c.1553+15T>G (n.1553+15T>G)
c.1262+15T>G (n.1262+15T>G)
c.1046+15T>G (n.1046+15T>G)
 gnomAD v4
15g.100048843A=CA2199825548ADAMTS17c.2591+14T= (n.2591+14T=)
c.2672+14T= (n.2672+14T=)
c.2741+14T= (n.2741+14T=)
c.2873+14T= (n.2873+14T=)
c.2804+14T= (n.2804+14T=)
c.2144+14T= (n.2144+14T=)
c.1775+14T= (n.1775+14T=)
c.1553+14T= (n.1553+14T=)
c.1262+14T= (n.1262+14T=)
c.1046+14T= (n.1046+14T=)
15g.100048843A>CCA7757675ADAMTS17c.2591+14T>G (n.2591+14T>G)
c.2672+14T>G (n.2672+14T>G)
c.2741+14T>G (n.2741+14T>G)
c.2873+14T>G (n.2873+14T>G)
c.2804+14T>G (n.2804+14T>G)
c.2144+14T>G (n.2144+14T>G)
c.1775+14T>G (n.1775+14T>G)
c.1553+14T>G (n.1553+14T>G)
c.1262+14T>G (n.1262+14T>G)
c.1046+14T>G (n.1046+14T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048843A>GCA2199825549ADAMTS17c.2591+14T>C (n.2591+14T>C)
c.2672+14T>C (n.2672+14T>C)
c.2741+14T>C (n.2741+14T>C)
c.2873+14T>C (n.2873+14T>C)
c.2804+14T>C (n.2804+14T>C)
c.2144+14T>C (n.2144+14T>C)
c.1775+14T>C (n.1775+14T>C)
c.1553+14T>C (n.1553+14T>C)
c.1262+14T>C (n.1262+14T>C)
c.1046+14T>C (n.1046+14T>C)
 dbSNP
15g.100048844C>ACA2630606060ADAMTS17c.2591+13G>T (n.2591+13G>T)
c.2672+13G>T (n.2672+13G>T)
c.2741+13G>T (n.2741+13G>T)
c.2873+13G>T (n.2873+13G>T)
c.2804+13G>T (n.2804+13G>T)
c.2144+13G>T (n.2144+13G>T)
c.1775+13G>T (n.1775+13G>T)
c.1553+13G>T (n.1553+13G>T)
c.1262+13G>T (n.1262+13G>T)
c.1046+13G>T (n.1046+13G>T)
 gnomAD v4
15g.100048845C=CA2199825551ADAMTS17c.2591+12G= (n.2591+12G=)
c.2672+12G= (n.2672+12G=)
c.2741+12G= (n.2741+12G=)
c.2873+12G= (n.2873+12G=)
c.2804+12G= (n.2804+12G=)
c.2144+12G= (n.2144+12G=)
c.1775+12G= (n.1775+12G=)
c.1553+12G= (n.1553+12G=)
c.1262+12G= (n.1262+12G=)
c.1046+12G= (n.1046+12G=)
15g.100048845C>GCA7757676ADAMTS17c.2591+12G>C (n.2591+12G>C)
c.2672+12G>C (n.2672+12G>C)
c.2741+12G>C (n.2741+12G>C)
c.2873+12G>C (n.2873+12G>C)
c.2804+12G>C (n.2804+12G>C)
c.2144+12G>C (n.2144+12G>C)
c.1775+12G>C (n.1775+12G>C)
c.1553+12G>C (n.1553+12G>C)
c.1262+12G>C (n.1262+12G>C)
c.1046+12G>C (n.1046+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048845C>TCA2199825550ADAMTS17c.2591+12G>A (n.2591+12G>A)
c.2672+12G>A (n.2672+12G>A)
c.2741+12G>A (n.2741+12G>A)
c.2873+12G>A (n.2873+12G>A)
c.2804+12G>A (n.2804+12G>A)
c.2144+12G>A (n.2144+12G>A)
c.1775+12G>A (n.1775+12G>A)
c.1553+12G>A (n.1553+12G>A)
c.1262+12G>A (n.1262+12G>A)
c.1046+12G>A (n.1046+12G>A)
 dbSNP gnomAD v4
15g.100048846C>ACA2731743856ADAMTS17c.2591+11G>T (n.2591+11G>T)
c.2672+11G>T (n.2672+11G>T)
c.2741+11G>T (n.2741+11G>T)
c.2873+11G>T (n.2873+11G>T)
c.2804+11G>T (n.2804+11G>T)
c.2144+11G>T (n.2144+11G>T)
c.1775+11G>T (n.1775+11G>T)
c.1553+11G>T (n.1553+11G>T)
c.1262+11G>T (n.1262+11G>T)
c.1046+11G>T (n.1046+11G>T)
 dbSNP
15g.100048848G>ACA973381816ADAMTS17c.2591+9C>T (n.2591+9C>T)
c.2672+9C>T (n.2672+9C>T)
c.2741+9C>T (n.2741+9C>T)
c.2873+9C>T (n.2873+9C>T)
c.2804+9C>T (n.2804+9C>T)
c.2144+9C>T (n.2144+9C>T)
c.1775+9C>T (n.1775+9C>T)
c.1553+9C>T (n.1553+9C>T)
c.1262+9C>T (n.1262+9C>T)
c.1046+9C>T (n.1046+9C>T)
 dbSNP gnomAD v3 gnomAD v4
15g.100048848G=CA2199825552ADAMTS17c.2591+9C= (n.2591+9C=)
c.2672+9C= (n.2672+9C=)
c.2741+9C= (n.2741+9C=)
c.2873+9C= (n.2873+9C=)
c.2804+9C= (n.2804+9C=)
c.2144+9C= (n.2144+9C=)
c.1775+9C= (n.1775+9C=)
c.1553+9C= (n.1553+9C=)
c.1262+9C= (n.1262+9C=)
c.1046+9C= (n.1046+9C=)
15g.100048851T>ACA2581239185ADAMTS17c.2591+6A>T (n.2591+6A>T)
c.2672+6A>T (n.2672+6A>T)
c.2741+6A>T (n.2741+6A>T)
c.2873+6A>T (n.2873+6A>T)
c.2804+6A>T (n.2804+6A>T)
c.2144+6A>T (n.2144+6A>T)
c.1775+6A>T (n.1775+6A>T)
c.1553+6A>T (n.1553+6A>T)
c.1262+6A>T (n.1262+6A>T)
c.1046+6A>T (n.1046+6A>T)
15g.100048851T>CCA7757677ADAMTS17c.2591+6A>G (n.2591+6A>G)
c.2672+6A>G (n.2672+6A>G)
c.2741+6A>G (n.2741+6A>G)
c.2873+6A>G (n.2873+6A>G)
c.2804+6A>G (n.2804+6A>G)
c.2144+6A>G (n.2144+6A>G)
c.1775+6A>G (n.1775+6A>G)
c.1553+6A>G (n.1553+6A>G)
c.1262+6A>G (n.1262+6A>G)
c.1046+6A>G (n.1046+6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048851T>GCA2575845737ADAMTS17c.2591+6A>C (n.2591+6A>C)
c.2672+6A>C (n.2672+6A>C)
c.2741+6A>C (n.2741+6A>C)
c.2873+6A>C (n.2873+6A>C)
c.2804+6A>C (n.2804+6A>C)
c.2144+6A>C (n.2144+6A>C)
c.1775+6A>C (n.1775+6A>C)
c.1553+6A>C (n.1553+6A>C)
c.1262+6A>C (n.1262+6A>C)
c.1046+6A>C (n.1046+6A>C)
15g.100048851T=CA2199825553ADAMTS17c.2591+6A= (n.2591+6A=)
c.2672+6A= (n.2672+6A=)
c.2741+6A= (n.2741+6A=)
c.2873+6A= (n.2873+6A=)
c.2804+6A= (n.2804+6A=)
c.2144+6A= (n.2144+6A=)
c.1775+6A= (n.1775+6A=)
c.1553+6A= (n.1553+6A=)
c.1262+6A= (n.1262+6A=)
c.1046+6A= (n.1046+6A=)
15g.100048852C>TCA645593800ADAMTS17c.2591+5G>A (n.2591+5G>A)
c.2672+5G>A (n.2672+5G>A)
c.2741+5G>A (n.2741+5G>A)
c.2873+5G>A (n.2873+5G>A)
c.2804+5G>A (n.2804+5G>A)
c.2144+5G>A (n.2144+5G>A)
c.1775+5G>A (n.1775+5G>A)
c.1553+5G>A (n.1553+5G>A)
c.1262+5G>A (n.1262+5G>A)
c.1046+5G>A (n.1046+5G>A)
 COSMIC
15g.100048855A>CCA393692242ADAMTS17c.2591+2T>G (n.2591+2T>G)
c.2672+2T>G (n.2672+2T>G)
c.2741+2T>G (n.2741+2T>G)
c.2873+2T>G (n.2873+2T>G)
c.2804+2T>G (n.2804+2T>G)
c.2144+2T>G (n.2144+2T>G)
c.1775+2T>G (n.1775+2T>G)
c.1553+2T>G (n.1553+2T>G)
c.1262+2T>G (n.1262+2T>G)
c.1046+2T>G (n.1046+2T>G)
15g.100048855A>GCA393692243ADAMTS17c.2591+2T>C (n.2591+2T>C)
c.2672+2T>C (n.2672+2T>C)
c.2741+2T>C (n.2741+2T>C)
c.2873+2T>C (n.2873+2T>C)
c.2804+2T>C (n.2804+2T>C)
c.2144+2T>C (n.2144+2T>C)
c.1775+2T>C (n.1775+2T>C)
c.1553+2T>C (n.1553+2T>C)
c.1262+2T>C (n.1262+2T>C)
c.1046+2T>C (n.1046+2T>C)
15g.100048855A>TCA393692244ADAMTS17c.2591+2T>A (n.2591+2T>A)
c.2672+2T>A (n.2672+2T>A)
c.2741+2T>A (n.2741+2T>A)
c.2873+2T>A (n.2873+2T>A)
c.2804+2T>A (n.2804+2T>A)
c.2144+2T>A (n.2144+2T>A)
c.1775+2T>A (n.1775+2T>A)
c.1553+2T>A (n.1553+2T>A)
c.1262+2T>A (n.1262+2T>A)
c.1046+2T>A (n.1046+2T>A)
15g.100048856C>ACA393692246ADAMTS17c.2591+1G>T (n.2591+1G>T)
c.2672+1G>T (n.2672+1G>T)
c.2741+1G>T (n.2741+1G>T)
c.2873+1G>T (n.2873+1G>T)
c.2804+1G>T (n.2804+1G>T)
c.2144+1G>T (n.2144+1G>T)
c.1775+1G>T (n.1775+1G>T)
c.1553+1G>T (n.1553+1G>T)
c.1262+1G>T (n.1262+1G>T)
c.1046+1G>T (n.1046+1G>T)
15g.100048856C=CA2199825554ADAMTS17c.2591+1G= (n.2591+1G=)
c.2672+1G= (n.2672+1G=)
c.2741+1G= (n.2741+1G=)
c.2873+1G= (n.2873+1G=)
c.2804+1G= (n.2804+1G=)
c.2144+1G= (n.2144+1G=)
c.1775+1G= (n.1775+1G=)
c.1553+1G= (n.1553+1G=)
c.1262+1G= (n.1262+1G=)
c.1046+1G= (n.1046+1G=)
15g.100048856C>GCA393692245ADAMTS17c.2591+1G>C (n.2591+1G>C)
c.2672+1G>C (n.2672+1G>C)
c.2741+1G>C (n.2741+1G>C)
c.2873+1G>C (n.2873+1G>C)
c.2804+1G>C (n.2804+1G>C)
c.2144+1G>C (n.2144+1G>C)
c.1775+1G>C (n.1775+1G>C)
c.1553+1G>C (n.1553+1G>C)
c.1262+1G>C (n.1262+1G>C)
c.1046+1G>C (n.1046+1G>C)
15g.100048856C>TCA7757678ADAMTS17c.2591+1G>A (n.2591+1G>A)
c.2672+1G>A (n.2672+1G>A)
c.2741+1G>A (n.2741+1G>A)
c.2873+1G>A (n.2873+1G>A)
c.2804+1G>A (n.2804+1G>A)
c.2144+1G>A (n.2144+1G>A)
c.1775+1G>A (n.1775+1G>A)
c.1553+1G>A (n.1553+1G>A)
c.1262+1G>A (n.1262+1G>A)
c.1046+1G>A (n.1046+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048857C>ACA393692247ADAMTS17c.2591G>T (p.Arg864Leu)
c.2672G>T (p.Arg891Leu)
c.2741G>T (p.Arg914Leu)
c.2873G>T (p.Arg958Leu)
c.2804G>T (p.Arg935Leu)
c.2144G>T (p.Arg715Leu)
c.1775G>T (p.Arg592Leu)
c.1553G>T (p.Arg518Leu)
c.1262G>T (p.Arg421Leu)
c.1046G>T (p.Arg349Leu)
15g.100048857C=CA2199825555ADAMTS17c.2591G= (p.Arg864=)
c.2672G= (p.Arg891=)
c.2741G= (p.Arg914=)
c.2873G= (p.Arg958=)
c.2804G= (p.Arg935=)
c.2144G= (p.Arg715=)
c.1775G= (p.Arg592=)
c.1553G= (p.Arg518=)
c.1262G= (p.Arg421=)
c.1046G= (p.Arg349=)
15g.100048857C>GCA393692248ADAMTS17c.2591G>C (p.Arg864Pro)
c.2672G>C (p.Arg891Pro)
c.2741G>C (p.Arg914Pro)
c.2873G>C (p.Arg958Pro)
c.2804G>C (p.Arg935Pro)
c.2144G>C (p.Arg715Pro)
c.1775G>C (p.Arg592Pro)
c.1553G>C (p.Arg518Pro)
c.1262G>C (p.Arg421Pro)
c.1046G>C (p.Arg349Pro)
 COSMIC
15g.100048857C>TCA7757679ADAMTS17c.2591G>A (p.Arg864Gln)
c.2672G>A (p.Arg891Gln)
c.2741G>A (p.Arg914Gln)
c.2873G>A (p.Arg958Gln)
c.2804G>A (p.Arg935Gln)
c.2144G>A (p.Arg715Gln)
c.1775G>A (p.Arg592Gln)
c.1553G>A (p.Arg518Gln)
c.1262G>A (p.Arg421Gln)
c.1046G>A (p.Arg349Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048858G>ACA7757680ADAMTS17c.2590C>T (p.Arg864Trp)
c.2671C>T (p.Arg891Trp)
c.2740C>T (p.Arg914Trp)
c.2872C>T (p.Arg958Trp)
c.2803C>T (p.Arg935Trp)
c.2143C>T (p.Arg715Trp)
c.1774C>T (p.Arg592Trp)
c.1552C>T (p.Arg518Trp)
c.1261C>T (p.Arg421Trp)
c.1045C>T (p.Arg349Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.100048858G>CCA393692249ADAMTS17c.2590C>G (p.Arg864Gly)
c.2671C>G (p.Arg891Gly)
c.2740C>G (p.Arg914Gly)
c.2872C>G (p.Arg958Gly)
c.2803C>G (p.Arg935Gly)
c.2143C>G (p.Arg715Gly)
c.1774C>G (p.Arg592Gly)
c.1552C>G (p.Arg518Gly)
c.1261C>G (p.Arg421Gly)
c.1045C>G (p.Arg349Gly)
15g.100048858G=CA2199825556ADAMTS17c.2590C= (p.Arg864=)
c.2671C= (p.Arg891=)
c.2740C= (p.Arg914=)
c.2872C= (p.Arg958=)
c.2803C= (p.Arg935=)
c.2143C= (p.Arg715=)
c.1774C= (p.Arg592=)
c.1552C= (p.Arg518=)
c.1261C= (p.Arg421=)
c.1045C= (p.Arg349=)
15g.100048858G>TCA492369909ADAMTS17c.2590C>A (p.Arg864=)
c.2671C>A (p.Arg891=)
c.2740C>A (p.Arg914=)
c.2872C>A (p.Arg958=)
c.2803C>A (p.Arg935=)
c.2143C>A (p.Arg715=)
c.1774C>A (p.Arg592=)
c.1552C>A (p.Arg518=)
c.1261C>A (p.Arg421=)
c.1045C>A (p.Arg349=)
15g.100048859T>ACA492369910ADAMTS17c.2589A>T (p.Ser863=)
c.2670A>T (p.Ser890=)
c.2739A>T (p.Ser913=)
c.2871A>T (p.Ser957=)
c.2802A>T (p.Ser934=)
c.2142A>T (p.Ser714=)
c.1773A>T (p.Ser591=)
c.1551A>T (p.Ser517=)
c.1260A>T (p.Ser420=)
c.1044A>T (p.Ser348=)
15g.100048859T>CCA492369911ADAMTS17c.2589A>G (p.Ser863=)
c.2670A>G (p.Ser890=)
c.2739A>G (p.Ser913=)
c.2871A>G (p.Ser957=)
c.2802A>G (p.Ser934=)
c.2142A>G (p.Ser714=)
c.1773A>G (p.Ser591=)
c.1551A>G (p.Ser517=)
c.1260A>G (p.Ser420=)
c.1044A>G (p.Ser348=)
 gnomAD v4
15g.100048859T>GCA492369912ADAMTS17c.2589A>C (p.Ser863=)
c.2670A>C (p.Ser890=)
c.2739A>C (p.Ser913=)
c.2871A>C (p.Ser957=)
c.2802A>C (p.Ser934=)
c.2142A>C (p.Ser714=)
c.1773A>C (p.Ser591=)
c.1551A>C (p.Ser517=)
c.1260A>C (p.Ser420=)
c.1044A>C (p.Ser348=)
15g.100048860G>ACA275472938ADAMTS17c.2588C>T (p.Ser863Leu)
c.2669C>T (p.Ser890Leu)
c.2738C>T (p.Ser913Leu)
c.2870C>T (p.Ser957Leu)
c.2801C>T (p.Ser934Leu)
c.2141C>T (p.Ser714Leu)
c.1772C>T (p.Ser591Leu)
c.1550C>T (p.Ser517Leu)
c.1259C>T (p.Ser420Leu)
c.1043C>T (p.Ser348Leu)
 ClinVar dbSNP
15g.100048860G>CCA393692250ADAMTS17c.2588C>G (p.Ser863Ter)
c.2669C>G (p.Ser890Ter)
c.2738C>G (p.Ser913Ter)
c.2870C>G (p.Ser957Ter)
c.2801C>G (p.Ser934Ter)
c.2141C>G (p.Ser714Ter)
c.1772C>G (p.Ser591Ter)
c.1550C>G (p.Ser517Ter)
c.1259C>G (p.Ser420Ter)
c.1043C>G (p.Ser348Ter)
15g.100048860G=CA2199825557ADAMTS17c.2588C= (p.Ser863=)
c.2669C= (p.Ser890=)
c.2738C= (p.Ser913=)
c.2870C= (p.Ser957=)
c.2801C= (p.Ser934=)
c.2141C= (p.Ser714=)
c.1772C= (p.Ser591=)
c.1550C= (p.Ser517=)
c.1259C= (p.Ser420=)
c.1043C= (p.Ser348=)
15g.100048860G>TCA393692251ADAMTS17c.2588C>A (p.Ser863Ter)
c.2669C>A (p.Ser890Ter)
c.2738C>A (p.Ser913Ter)
c.2870C>A (p.Ser957Ter)
c.2801C>A (p.Ser934Ter)
c.2141C>A (p.Ser714Ter)
c.1772C>A (p.Ser591Ter)
c.1550C>A (p.Ser517Ter)
c.1259C>A (p.Ser420Ter)
c.1043C>A (p.Ser348Ter)
15g.100048861A>CCA393692252ADAMTS17c.2587T>G (p.Ser863Ala)
c.2668T>G (p.Ser890Ala)
c.2737T>G (p.Ser913Ala)
c.2869T>G (p.Ser957Ala)
c.2800T>G (p.Ser934Ala)
c.2140T>G (p.Ser714Ala)
c.1771T>G (p.Ser591Ala)
c.1549T>G (p.Ser517Ala)
c.1258T>G (p.Ser420Ala)
c.1042T>G (p.Ser348Ala)
15g.100048861A>GCA393692253ADAMTS17c.2587T>C (p.Ser863Pro)
c.2668T>C (p.Ser890Pro)
c.2737T>C (p.Ser913Pro)
c.2869T>C (p.Ser957Pro)
c.2800T>C (p.Ser934Pro)
c.2140T>C (p.Ser714Pro)
c.1771T>C (p.Ser591Pro)
c.1549T>C (p.Ser517Pro)
c.1258T>C (p.Ser420Pro)
c.1042T>C (p.Ser348Pro)
15g.100048861A>TCA393692254ADAMTS17c.2587T>A (p.Ser863Thr)
c.2668T>A (p.Ser890Thr)
c.2737T>A (p.Ser913Thr)
c.2869T>A (p.Ser957Thr)
c.2800T>A (p.Ser934Thr)
c.2140T>A (p.Ser714Thr)
c.1771T>A (p.Ser591Thr)
c.1549T>A (p.Ser517Thr)
c.1258T>A (p.Ser420Thr)
c.1042T>A (p.Ser348Thr)
15g.100048862C>ACA393692255ADAMTS17c.2586G>T (p.Gln862His)
c.2667G>T (p.Gln889His)
c.2736G>T (p.Gln912His)
c.2868G>T (p.Gln956His)
c.2799G>T (p.Gln933His)
c.2139G>T (p.Gln713His)
c.1770G>T (p.Gln590His)
c.1548G>T (p.Gln516His)
c.1257G>T (p.Gln419His)
c.1041G>T (p.Gln347His)
15g.100048862C>GCA393692256ADAMTS17c.2586G>C (p.Gln862His)
c.2667G>C (p.Gln889His)
c.2736G>C (p.Gln912His)
c.2868G>C (p.Gln956His)
c.2799G>C (p.Gln933His)
c.2139G>C (p.Gln713His)
c.1770G>C (p.Gln590His)
c.1548G>C (p.Gln516His)
c.1257G>C (p.Gln419His)
c.1041G>C (p.Gln347His)
15g.100048862C>TCA492369913ADAMTS17c.2586G>A (p.Gln862=)
c.2667G>A (p.Gln889=)
c.2736G>A (p.Gln912=)
c.2868G>A (p.Gln956=)
c.2799G>A (p.Gln933=)
c.2139G>A (p.Gln713=)
c.1770G>A (p.Gln590=)
c.1548G>A (p.Gln516=)
c.1257G>A (p.Gln419=)
c.1041G>A (p.Gln347=)
15g.100048863T>ACA393692259ADAMTS17c.2585A>T (p.Gln862Leu)
c.2666A>T (p.Gln889Leu)
c.2735A>T (p.Gln912Leu)
c.2867A>T (p.Gln956Leu)
c.2798A>T (p.Gln933Leu)
c.2138A>T (p.Gln713Leu)
c.1769A>T (p.Gln590Leu)
c.1547A>T (p.Gln516Leu)
c.1256A>T (p.Gln419Leu)
c.1040A>T (p.Gln347Leu)
15g.100048863T>CCA393692257ADAMTS17c.2585A>G (p.Gln862Arg)
c.2666A>G (p.Gln889Arg)
c.2735A>G (p.Gln912Arg)
c.2867A>G (p.Gln956Arg)
c.2798A>G (p.Gln933Arg)
c.2138A>G (p.Gln713Arg)
c.1769A>G (p.Gln590Arg)
c.1547A>G (p.Gln516Arg)
c.1256A>G (p.Gln419Arg)
c.1040A>G (p.Gln347Arg)
 dbSNP gnomAD v2
15g.100048863T>GCA393692258ADAMTS17c.2585A>C (p.Gln862Pro)
c.2666A>C (p.Gln889Pro)
c.2735A>C (p.Gln912Pro)
c.2867A>C (p.Gln956Pro)
c.2798A>C (p.Gln933Pro)
c.2138A>C (p.Gln713Pro)
c.1769A>C (p.Gln590Pro)
c.1547A>C (p.Gln516Pro)
c.1256A>C (p.Gln419Pro)
c.1040A>C (p.Gln347Pro)
15g.100048863T=CA2199825558ADAMTS17c.2585A= (p.Gln862=)
c.2666A= (p.Gln889=)
c.2735A= (p.Gln912=)
c.2867A= (p.Gln956=)
c.2798A= (p.Gln933=)
c.2138A= (p.Gln713=)
c.1769A= (p.Gln590=)
c.1547A= (p.Gln516=)
c.1256A= (p.Gln419=)
c.1040A= (p.Gln347=)
15g.100048864G>ACA393692260ADAMTS17c.2584C>T (p.Gln862Ter)
c.2665C>T (p.Gln889Ter)
c.2734C>T (p.Gln912Ter)
c.2866C>T (p.Gln956Ter)
c.2797C>T (p.Gln933Ter)
c.2137C>T (p.Gln713Ter)
c.1768C>T (p.Gln590Ter)
c.1546C>T (p.Gln516Ter)
c.1255C>T (p.Gln419Ter)
c.1039C>T (p.Gln347Ter)
 ClinVar
15g.100048864G>CCA393692261ADAMTS17c.2584C>G (p.Gln862Glu)
c.2665C>G (p.Gln889Glu)
c.2734C>G (p.Gln912Glu)
c.2866C>G (p.Gln956Glu)
c.2797C>G (p.Gln933Glu)
c.2137C>G (p.Gln713Glu)
c.1768C>G (p.Gln590Glu)
c.1546C>G (p.Gln516Glu)
c.1255C>G (p.Gln419Glu)
c.1039C>G (p.Gln347Glu)
15g.100048864G>TCA393692262ADAMTS17c.2584C>A (p.Gln862Lys)
c.2665C>A (p.Gln889Lys)
c.2734C>A (p.Gln912Lys)
c.2866C>A (p.Gln956Lys)
c.2797C>A (p.Gln933Lys)
c.2137C>A (p.Gln713Lys)
c.1768C>A (p.Gln590Lys)
c.1546C>A (p.Gln516Lys)
c.1255C>A (p.Gln419Lys)
c.1039C>A (p.Gln347Lys)
15g.100048865G>ACA492369914ADAMTS17c.2583C>T (p.Cys861=)
c.2664C>T (p.Cys888=)
c.2733C>T (p.Cys911=)
c.2865C>T (p.Cys955=)
c.2796C>T (p.Cys932=)
c.2136C>T (p.Cys712=)
c.1767C>T (p.Cys589=)
c.1545C>T (p.Cys515=)
c.1254C>T (p.Cys418=)
c.1038C>T (p.Cys346=)
 ClinVar
15g.100048865G>CCA393692263ADAMTS17c.2583C>G (p.Cys861Trp)
c.2664C>G (p.Cys888Trp)
c.2733C>G (p.Cys911Trp)
c.2865C>G (p.Cys955Trp)
c.2796C>G (p.Cys932Trp)
c.2136C>G (p.Cys712Trp)
c.1767C>G (p.Cys589Trp)
c.1545C>G (p.Cys515Trp)
c.1254C>G (p.Cys418Trp)
c.1038C>G (p.Cys346Trp)
15g.100048865G>TCA393692264ADAMTS17c.2583C>A (p.Cys861Ter)
c.2664C>A (p.Cys888Ter)
c.2733C>A (p.Cys911Ter)
c.2865C>A (p.Cys955Ter)
c.2796C>A (p.Cys932Ter)
c.2136C>A (p.Cys712Ter)
c.1767C>A (p.Cys589Ter)
c.1545C>A (p.Cys515Ter)
c.1254C>A (p.Cys418Ter)
c.1038C>A (p.Cys346Ter)
15g.100048866C>ACA393692265ADAMTS17c.2582G>T (p.Cys861Phe)
c.2663G>T (p.Cys888Phe)
c.2732G>T (p.Cys911Phe)
c.2864G>T (p.Cys955Phe)
c.2795G>T (p.Cys932Phe)
c.2135G>T (p.Cys712Phe)
c.1766G>T (p.Cys589Phe)
c.1544G>T (p.Cys515Phe)
c.1253G>T (p.Cys418Phe)
c.1037G>T (p.Cys346Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.100048866C=CA2199825559ADAMTS17c.2582G= (p.Cys861=)
c.2663G= (p.Cys888=)
c.2732G= (p.Cys911=)
c.2864G= (p.Cys955=)
c.2795G= (p.Cys932=)
c.2135G= (p.Cys712=)
c.1766G= (p.Cys589=)
c.1544G= (p.Cys515=)
c.1253G= (p.Cys418=)
c.1037G= (p.Cys346=)
15g.100048866C>GCA393692266ADAMTS17c.2582G>C (p.Cys861Ser)
c.2663G>C (p.Cys888Ser)
c.2732G>C (p.Cys911Ser)
c.2864G>C (p.Cys955Ser)
c.2795G>C (p.Cys932Ser)
c.2135G>C (p.Cys712Ser)
c.1766G>C (p.Cys589Ser)
c.1544G>C (p.Cys515Ser)
c.1253G>C (p.Cys418Ser)
c.1037G>C (p.Cys346Ser)
15g.100048866C>TCA393692267ADAMTS17c.2582G>A (p.Cys861Tyr)
c.2663G>A (p.Cys888Tyr)
c.2732G>A (p.Cys911Tyr)
c.2864G>A (p.Cys955Tyr)
c.2795G>A (p.Cys932Tyr)
c.2135G>A (p.Cys712Tyr)
c.1766G>A (p.Cys589Tyr)
c.1544G>A (p.Cys515Tyr)
c.1253G>A (p.Cys418Tyr)
c.1037G>A (p.Cys346Tyr)
15g.100048867A>CCA393692268ADAMTS17c.2581T>G (p.Cys861Gly)
c.2662T>G (p.Cys888Gly)
c.2731T>G (p.Cys911Gly)
c.2863T>G (p.Cys955Gly)
c.2794T>G (p.Cys932Gly)
c.2134T>G (p.Cys712Gly)
c.1765T>G (p.Cys589Gly)
c.1543T>G (p.Cys515Gly)
c.1252T>G (p.Cys418Gly)
c.1036T>G (p.Cys346Gly)
15g.100048867A>GCA393692269ADAMTS17c.2581T>C (p.Cys861Arg)
c.2662T>C (p.Cys888Arg)
c.2731T>C (p.Cys911Arg)
c.2863T>C (p.Cys955Arg)
c.2794T>C (p.Cys932Arg)
c.2134T>C (p.Cys712Arg)
c.1765T>C (p.Cys589Arg)
c.1543T>C (p.Cys515Arg)
c.1252T>C (p.Cys418Arg)
c.1036T>C (p.Cys346Arg)
15g.100048867A>TCA393692270ADAMTS17c.2581T>A (p.Cys861Ser)
c.2662T>A (p.Cys888Ser)
c.2731T>A (p.Cys911Ser)
c.2863T>A (p.Cys955Ser)
c.2794T>A (p.Cys932Ser)
c.2134T>A (p.Cys712Ser)
c.1765T>A (p.Cys589Ser)
c.1543T>A (p.Cys515Ser)
c.1252T>A (p.Cys418Ser)
c.1036T>A (p.Cys346Ser)
15g.100048868G>ACA492369915ADAMTS17c.2580C>T (p.Pro860=)
c.2661C>T (p.Pro887=)
c.2730C>T (p.Pro910=)
c.2862C>T (p.Pro954=)
c.2793C>T (p.Pro931=)
c.2133C>T (p.Pro711=)
c.1764C>T (p.Pro588=)
c.1542C>T (p.Pro514=)
c.1251C>T (p.Pro417=)
c.1035C>T (p.Pro345=)
 dbSNP gnomAD v4
15g.100048868G>CCA7757681ADAMTS17c.2580C>G (p.Pro860=)
c.2661C>G (p.Pro887=)
c.2730C>G (p.Pro910=)
c.2862C>G (p.Pro954=)
c.2793C>G (p.Pro931=)
c.2133C>G (p.Pro711=)
c.1764C>G (p.Pro588=)
c.1542C>G (p.Pro514=)
c.1251C>G (p.Pro417=)
c.1035C>G (p.Pro345=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048868G=CA2199825560ADAMTS17c.2580C= (p.Pro860=)
c.2661C= (p.Pro887=)
c.2730C= (p.Pro910=)
c.2862C= (p.Pro954=)
c.2793C= (p.Pro931=)
c.2133C= (p.Pro711=)
c.1764C= (p.Pro588=)
c.1542C= (p.Pro514=)
c.1251C= (p.Pro417=)
c.1035C= (p.Pro345=)
15g.100048868G>TCA492369916ADAMTS17c.2580C>A (p.Pro860=)
c.2661C>A (p.Pro887=)
c.2730C>A (p.Pro910=)
c.2862C>A (p.Pro954=)
c.2793C>A (p.Pro931=)
c.2133C>A (p.Pro711=)
c.1764C>A (p.Pro588=)
c.1542C>A (p.Pro514=)
c.1251C>A (p.Pro417=)
c.1035C>A (p.Pro345=)
15g.100048871delCA645593801ADAMTS17c.2580del (p.Cys861AlafsTer26)
c.2661del (p.Cys888AlafsTer26)
c.2730del (p.Cys911AlafsTer26)
c.2862del (p.Cys955AlafsTer26)
c.2793del (p.Cys932AlafsTer26)
c.2133del (p.Cys712AlafsTer26)
c.1764del (p.Cys589AlafsTer26)
c.1542del (p.Cys515AlafsTer26)
c.1251del (p.Cys418AlafsTer26)
c.1035del (p.Cys346AlafsTer26)
 COSMIC
15g.100048869G>ACA393692272ADAMTS17c.2579C>T (p.Pro860Leu)
c.2660C>T (p.Pro887Leu)
c.2729C>T (p.Pro910Leu)
c.2861C>T (p.Pro954Leu)
c.2792C>T (p.Pro931Leu)
c.2132C>T (p.Pro711Leu)
c.1763C>T (p.Pro588Leu)
c.1541C>T (p.Pro514Leu)
c.1250C>T (p.Pro417Leu)
c.1034C>T (p.Pro345Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.100048869G>CCA393692273ADAMTS17c.2579C>G (p.Pro860Arg)
c.2660C>G (p.Pro887Arg)
c.2729C>G (p.Pro910Arg)
c.2861C>G (p.Pro954Arg)
c.2792C>G (p.Pro931Arg)
c.2132C>G (p.Pro711Arg)
c.1763C>G (p.Pro588Arg)
c.1541C>G (p.Pro514Arg)
c.1250C>G (p.Pro417Arg)
c.1034C>G (p.Pro345Arg)
15g.100048869G=CA2199825561ADAMTS17c.2579C= (p.Pro860=)
c.2660C= (p.Pro887=)
c.2729C= (p.Pro910=)
c.2861C= (p.Pro954=)
c.2792C= (p.Pro931=)
c.2132C= (p.Pro711=)
c.1763C= (p.Pro588=)
c.1541C= (p.Pro514=)
c.1250C= (p.Pro417=)
c.1034C= (p.Pro345=)
15g.100048869G>TCA393692271ADAMTS17c.2579C>A (p.Pro860His)
c.2660C>A (p.Pro887His)
c.2729C>A (p.Pro910His)
c.2861C>A (p.Pro954His)
c.2792C>A (p.Pro931His)
c.2132C>A (p.Pro711His)
c.1763C>A (p.Pro588His)
c.1541C>A (p.Pro514His)
c.1250C>A (p.Pro417His)
c.1034C>A (p.Pro345His)
15g.100048870G>ACA393692276ADAMTS17c.2578C>T (p.Pro860Ser)
c.2659C>T (p.Pro887Ser)
c.2728C>T (p.Pro910Ser)
c.2860C>T (p.Pro954Ser)
c.2791C>T (p.Pro931Ser)
c.2131C>T (p.Pro711Ser)
c.1762C>T (p.Pro588Ser)
c.1540C>T (p.Pro514Ser)
c.1249C>T (p.Pro417Ser)
c.1033C>T (p.Pro345Ser)
 gnomAD v4
15g.100048870G>CCA393692274ADAMTS17c.2578C>G (p.Pro860Ala)
c.2659C>G (p.Pro887Ala)
c.2728C>G (p.Pro910Ala)
c.2860C>G (p.Pro954Ala)
c.2791C>G (p.Pro931Ala)
c.2131C>G (p.Pro711Ala)
c.1762C>G (p.Pro588Ala)
c.1540C>G (p.Pro514Ala)
c.1249C>G (p.Pro417Ala)
c.1033C>G (p.Pro345Ala)
15g.100048870G=CA2199825562ADAMTS17c.2578C= (p.Pro860=)
c.2659C= (p.Pro887=)
c.2728C= (p.Pro910=)
c.2860C= (p.Pro954=)
c.2791C= (p.Pro931=)
c.2131C= (p.Pro711=)
c.1762C= (p.Pro588=)
c.1540C= (p.Pro514=)
c.1249C= (p.Pro417=)
c.1033C= (p.Pro345=)
15g.100048870G>TCA393692275ADAMTS17c.2578C>A (p.Pro860Thr)
c.2659C>A (p.Pro887Thr)
c.2728C>A (p.Pro910Thr)
c.2860C>A (p.Pro954Thr)
c.2791C>A (p.Pro931Thr)
c.2131C>A (p.Pro711Thr)
c.1762C>A (p.Pro588Thr)
c.1540C>A (p.Pro514Thr)
c.1249C>A (p.Pro417Thr)
c.1033C>A (p.Pro345Thr)
 dbSNP gnomAD v2 gnomAD v4
15g.100048871G>ACA492369917ADAMTS17c.2577C>T (p.His859=)
c.2658C>T (p.His886=)
c.2727C>T (p.His909=)
c.2859C>T (p.His953=)
c.2790C>T (p.His930=)
c.2130C>T (p.His710=)
c.1761C>T (p.His587=)
c.1539C>T (p.His513=)
c.1248C>T (p.His416=)
c.1032C>T (p.His344=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.100048871G>CCA393692277ADAMTS17c.2577C>G (p.His859Gln)
c.2658C>G (p.His886Gln)
c.2727C>G (p.His909Gln)
c.2859C>G (p.His953Gln)
c.2790C>G (p.His930Gln)
c.2130C>G (p.His710Gln)
c.1761C>G (p.His587Gln)
c.1539C>G (p.His513Gln)
c.1248C>G (p.His416Gln)
c.1032C>G (p.His344Gln)
15g.100048871G=CA2199825563ADAMTS17c.2577C= (p.His859=)
c.2658C= (p.His886=)
c.2727C= (p.His909=)
c.2859C= (p.His953=)
c.2790C= (p.His930=)
c.2130C= (p.His710=)
c.1761C= (p.His587=)
c.1539C= (p.His513=)
c.1248C= (p.His416=)
c.1032C= (p.His344=)
15g.100048871G>TCA393692278ADAMTS17c.2577C>A (p.His859Gln)
c.2658C>A (p.His886Gln)
c.2727C>A (p.His909Gln)
c.2859C>A (p.His953Gln)
c.2790C>A (p.His930Gln)
c.2130C>A (p.His710Gln)
c.1761C>A (p.His587Gln)
c.1539C>A (p.His513Gln)
c.1248C>A (p.His416Gln)
c.1032C>A (p.His344Gln)
15g.100048873_100048878delCA2575845738ADAMTS17c.2572_2577del (p.Leu858_His859del)
c.2653_2658del (p.Leu885_His886del)
c.2722_2727del (p.Leu908_His909del)
c.2854_2859del (p.Leu952_His953del)
c.2785_2790del (p.Leu929_His930del)
c.2125_2130del (p.Leu709_His710del)
c.1756_1761del (p.Leu586_His587del)
c.1534_1539del (p.Leu512_His513del)
c.1243_1248del (p.Leu415_His416del)
c.1027_1032del (p.Leu343_His344del)
15g.100048872T>ACA393692279ADAMTS17c.2576A>T (p.His859Leu)
c.2657A>T (p.His886Leu)
c.2726A>T (p.His909Leu)
c.2858A>T (p.His953Leu)
c.2789A>T (p.His930Leu)
c.2129A>T (p.His710Leu)
c.1760A>T (p.His587Leu)
c.1538A>T (p.His513Leu)
c.1247A>T (p.His416Leu)
c.1031A>T (p.His344Leu)
15g.100048872T>CCA393692280ADAMTS17c.2576A>G (p.His859Arg)
c.2657A>G (p.His886Arg)
c.2726A>G (p.His909Arg)
c.2858A>G (p.His953Arg)
c.2789A>G (p.His930Arg)
c.2129A>G (p.His710Arg)
c.1760A>G (p.His587Arg)
c.1538A>G (p.His513Arg)
c.1247A>G (p.His416Arg)
c.1031A>G (p.His344Arg)
 gnomAD v4
15g.100048872T>GCA7757682ADAMTS17c.2576A>C (p.His859Pro)
c.2657A>C (p.His886Pro)
c.2726A>C (p.His909Pro)
c.2858A>C (p.His953Pro)
c.2789A>C (p.His930Pro)
c.2129A>C (p.His710Pro)
c.1760A>C (p.His587Pro)
c.1538A>C (p.His513Pro)
c.1247A>C (p.His416Pro)
c.1031A>C (p.His344Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048872T=CA2199825564ADAMTS17c.2576A= (p.His859=)
c.2657A= (p.His886=)
c.2726A= (p.His909=)
c.2858A= (p.His953=)
c.2789A= (p.His930=)
c.2129A= (p.His710=)
c.1760A= (p.His587=)
c.1538A= (p.His513=)
c.1247A= (p.His416=)
c.1031A= (p.His344=)
15g.100048873G>ACA393692281ADAMTS17c.2575C>T (p.His859Tyr)
c.2656C>T (p.His886Tyr)
c.2725C>T (p.His909Tyr)
c.2857C>T (p.His953Tyr)
c.2788C>T (p.His930Tyr)
c.2128C>T (p.His710Tyr)
c.1759C>T (p.His587Tyr)
c.1537C>T (p.His513Tyr)
c.1246C>T (p.His416Tyr)
c.1030C>T (p.His344Tyr)
 COSMIC
15g.100048873G>CCA393692282ADAMTS17c.2575C>G (p.His859Asp)
c.2656C>G (p.His886Asp)
c.2725C>G (p.His909Asp)
c.2857C>G (p.His953Asp)
c.2788C>G (p.His930Asp)
c.2128C>G (p.His710Asp)
c.1759C>G (p.His587Asp)
c.1537C>G (p.His513Asp)
c.1246C>G (p.His416Asp)
c.1030C>G (p.His344Asp)
 gnomAD v4
15g.100048873G>TCA393692283ADAMTS17c.2575C>A (p.His859Asn)
c.2656C>A (p.His886Asn)
c.2725C>A (p.His909Asn)
c.2857C>A (p.His953Asn)
c.2788C>A (p.His930Asn)
c.2128C>A (p.His710Asn)
c.1759C>A (p.His587Asn)
c.1537C>A (p.His513Asn)
c.1246C>A (p.His416Asn)
c.1030C>A (p.His344Asn)
 gnomAD v4
15g.100048874C>ACA393692284ADAMTS17c.2574G>T (p.Leu858Phe)
c.2655G>T (p.Leu885Phe)
c.2724G>T (p.Leu908Phe)
c.2856G>T (p.Leu952Phe)
c.2787G>T (p.Leu929Phe)
c.2127G>T (p.Leu709Phe)
c.1758G>T (p.Leu586Phe)
c.1536G>T (p.Leu512Phe)
c.1245G>T (p.Leu415Phe)
c.1029G>T (p.Leu343Phe)
15g.100048874C=CA2199825565ADAMTS17c.2574G= (p.Leu858=)
c.2655G= (p.Leu885=)
c.2724G= (p.Leu908=)
c.2856G= (p.Leu952=)
c.2787G= (p.Leu929=)
c.2127G= (p.Leu709=)
c.1758G= (p.Leu586=)
c.1536G= (p.Leu512=)
c.1245G= (p.Leu415=)
c.1029G= (p.Leu343=)
15g.100048874C>GCA393692285ADAMTS17c.2574G>C (p.Leu858Phe)
c.2655G>C (p.Leu885Phe)
c.2724G>C (p.Leu908Phe)
c.2856G>C (p.Leu952Phe)
c.2787G>C (p.Leu929Phe)
c.2127G>C (p.Leu709Phe)
c.1758G>C (p.Leu586Phe)
c.1536G>C (p.Leu512Phe)
c.1245G>C (p.Leu415Phe)
c.1029G>C (p.Leu343Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.100048874C>TCA492369918ADAMTS17c.2574G>A (p.Leu858=)
c.2655G>A (p.Leu885=)
c.2724G>A (p.Leu908=)
c.2856G>A (p.Leu952=)
c.2787G>A (p.Leu929=)
c.2127G>A (p.Leu709=)
c.1758G>A (p.Leu586=)
c.1536G>A (p.Leu512=)
c.1245G>A (p.Leu415=)
c.1029G>A (p.Leu343=)
15g.100048875A=CA2199825566ADAMTS17c.2573T= (p.Leu858=)
c.2654T= (p.Leu885=)
c.2723T= (p.Leu908=)
c.2855T= (p.Leu952=)
c.2786T= (p.Leu929=)
c.2126T= (p.Leu709=)
c.1757T= (p.Leu586=)
c.1535T= (p.Leu512=)
c.1244T= (p.Leu415=)
c.1028T= (p.Leu343=)
15g.100048875A>CCA393692288ADAMTS17c.2573T>G (p.Leu858Trp)
c.2654T>G (p.Leu885Trp)
c.2723T>G (p.Leu908Trp)
c.2855T>G (p.Leu952Trp)
c.2786T>G (p.Leu929Trp)
c.2126T>G (p.Leu709Trp)
c.1757T>G (p.Leu586Trp)
c.1535T>G (p.Leu512Trp)
c.1244T>G (p.Leu415Trp)
c.1028T>G (p.Leu343Trp)
15g.100048875A>GCA393692287ADAMTS17c.2573T>C (p.Leu858Ser)
c.2654T>C (p.Leu885Ser)
c.2723T>C (p.Leu908Ser)
c.2855T>C (p.Leu952Ser)
c.2786T>C (p.Leu929Ser)
c.2126T>C (p.Leu709Ser)
c.1757T>C (p.Leu586Ser)
c.1535T>C (p.Leu512Ser)
c.1244T>C (p.Leu415Ser)
c.1028T>C (p.Leu343Ser)
 dbSNP gnomAD v2
15g.100048875A>TCA393692286ADAMTS17c.2573T>A (p.Leu858Ter)
c.2654T>A (p.Leu885Ter)
c.2723T>A (p.Leu908Ter)
c.2855T>A (p.Leu952Ter)
c.2786T>A (p.Leu929Ter)
c.2126T>A (p.Leu709Ter)
c.1757T>A (p.Leu586Ter)
c.1535T>A (p.Leu512Ter)
c.1244T>A (p.Leu415Ter)
c.1028T>A (p.Leu343Ter)
15g.100048876A>CCA393692289ADAMTS17c.2572T>G (p.Leu858Val)
c.2653T>G (p.Leu885Val)
c.2722T>G (p.Leu908Val)
c.2854T>G (p.Leu952Val)
c.2785T>G (p.Leu929Val)
c.2125T>G (p.Leu709Val)
c.1756T>G (p.Leu586Val)
c.1534T>G (p.Leu512Val)
c.1243T>G (p.Leu415Val)
c.1027T>G (p.Leu343Val)
15g.100048876A>GCA492369919ADAMTS17c.2572T>C (p.Leu858=)
c.2653T>C (p.Leu885=)
c.2722T>C (p.Leu908=)
c.2854T>C (p.Leu952=)
c.2785T>C (p.Leu929=)
c.2125T>C (p.Leu709=)
c.1756T>C (p.Leu586=)
c.1534T>C (p.Leu512=)
c.1243T>C (p.Leu415=)
c.1027T>C (p.Leu343=)
15g.100048876A>TCA393692290ADAMTS17c.2572T>A (p.Leu858Met)
c.2653T>A (p.Leu885Met)
c.2722T>A (p.Leu908Met)
c.2854T>A (p.Leu952Met)
c.2785T>A (p.Leu929Met)
c.2125T>A (p.Leu709Met)
c.1756T>A (p.Leu586Met)
c.1534T>A (p.Leu512Met)
c.1243T>A (p.Leu415Met)
c.1027T>A (p.Leu343Met)
15g.100048877G>ACA492369920ADAMTS17c.2571C>T (p.Asn857=)
c.2652C>T (p.Asn884=)
c.2721C>T (p.Asn907=)
c.2853C>T (p.Asn951=)
c.2784C>T (p.Asn928=)
c.2124C>T (p.Asn708=)
c.1755C>T (p.Asn585=)
c.1533C>T (p.Asn511=)
c.1242C>T (p.Asn414=)
c.1026C>T (p.Asn342=)
 dbSNP gnomAD v3 gnomAD v4
15g.100048877G>CCA393692291ADAMTS17c.2571C>G (p.Asn857Lys)
c.2652C>G (p.Asn884Lys)
c.2721C>G (p.Asn907Lys)
c.2853C>G (p.Asn951Lys)
c.2784C>G (p.Asn928Lys)
c.2124C>G (p.Asn708Lys)
c.1755C>G (p.Asn585Lys)
c.1533C>G (p.Asn511Lys)
c.1242C>G (p.Asn414Lys)
c.1026C>G (p.Asn342Lys)
 gnomAD v4
15g.100048877G=CA2199825567ADAMTS17c.2571C= (p.Asn857=)
c.2652C= (p.Asn884=)
c.2721C= (p.Asn907=)
c.2853C= (p.Asn951=)
c.2784C= (p.Asn928=)
c.2124C= (p.Asn708=)
c.1755C= (p.Asn585=)
c.1533C= (p.Asn511=)
c.1242C= (p.Asn414=)
c.1026C= (p.Asn342=)
15g.100048877G>TCA393692292ADAMTS17c.2571C>A (p.Asn857Lys)
c.2652C>A (p.Asn884Lys)
c.2721C>A (p.Asn907Lys)
c.2853C>A (p.Asn951Lys)
c.2784C>A (p.Asn928Lys)
c.2124C>A (p.Asn708Lys)
c.1755C>A (p.Asn585Lys)
c.1533C>A (p.Asn511Lys)
c.1242C>A (p.Asn414Lys)
c.1026C>A (p.Asn342Lys)
15g.100048878T>ACA393692293ADAMTS17c.2570A>T (p.Asn857Ile)
c.2651A>T (p.Asn884Ile)
c.2720A>T (p.Asn907Ile)
c.2852A>T (p.Asn951Ile)
c.2783A>T (p.Asn928Ile)
c.2123A>T (p.Asn708Ile)
c.1754A>T (p.Asn585Ile)
c.1532A>T (p.Asn511Ile)
c.1241A>T (p.Asn414Ile)
c.1025A>T (p.Asn342Ile)
15g.100048878T>CCA393692295ADAMTS17c.2570A>G (p.Asn857Ser)
c.2651A>G (p.Asn884Ser)
c.2720A>G (p.Asn907Ser)
c.2852A>G (p.Asn951Ser)
c.2783A>G (p.Asn928Ser)
c.2123A>G (p.Asn708Ser)
c.1754A>G (p.Asn585Ser)
c.1532A>G (p.Asn511Ser)
c.1241A>G (p.Asn414Ser)
c.1025A>G (p.Asn342Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.100048878T>GCA7757683ADAMTS17c.2570A>C (p.Asn857Thr)
c.2651A>C (p.Asn884Thr)
c.2720A>C (p.Asn907Thr)
c.2852A>C (p.Asn951Thr)
c.2783A>C (p.Asn928Thr)
c.2123A>C (p.Asn708Thr)
c.1754A>C (p.Asn585Thr)
c.1532A>C (p.Asn511Thr)
c.1241A>C (p.Asn414Thr)
c.1025A>C (p.Asn342Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048878T=CA2199825568ADAMTS17c.2570A= (p.Asn857=)
c.2651A= (p.Asn884=)
c.2720A= (p.Asn907=)
c.2852A= (p.Asn951=)
c.2783A= (p.Asn928=)
c.2123A= (p.Asn708=)
c.1754A= (p.Asn585=)
c.1532A= (p.Asn511=)
c.1241A= (p.Asn414=)
c.1025A= (p.Asn342=)
15g.100048879T>ACA393692299ADAMTS17c.2569A>T (p.Asn857Tyr)
c.2650A>T (p.Asn884Tyr)
c.2719A>T (p.Asn907Tyr)
c.2851A>T (p.Asn951Tyr)
c.2782A>T (p.Asn928Tyr)
c.2122A>T (p.Asn708Tyr)
c.1753A>T (p.Asn585Tyr)
c.1531A>T (p.Asn511Tyr)
c.1240A>T (p.Asn414Tyr)
c.1024A>T (p.Asn342Tyr)
15g.100048879T>CCA393692301ADAMTS17c.2569A>G (p.Asn857Asp)
c.2650A>G (p.Asn884Asp)
c.2719A>G (p.Asn907Asp)
c.2851A>G (p.Asn951Asp)
c.2782A>G (p.Asn928Asp)
c.2122A>G (p.Asn708Asp)
c.1753A>G (p.Asn585Asp)
c.1531A>G (p.Asn511Asp)
c.1240A>G (p.Asn414Asp)
c.1024A>G (p.Asn342Asp)
15g.100048879T>GCA7757684ADAMTS17c.2569A>C (p.Asn857His)
c.2650A>C (p.Asn884His)
c.2719A>C (p.Asn907His)
c.2851A>C (p.Asn951His)
c.2782A>C (p.Asn928His)
c.2122A>C (p.Asn708His)
c.1753A>C (p.Asn585His)
c.1531A>C (p.Asn511His)
c.1240A>C (p.Asn414His)
c.1024A>C (p.Asn342His)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048879T=CA2199825569ADAMTS17c.2569A= (p.Asn857=)
c.2650A= (p.Asn884=)
c.2719A= (p.Asn907=)
c.2851A= (p.Asn951=)
c.2782A= (p.Asn928=)
c.2122A= (p.Asn708=)
c.1753A= (p.Asn585=)
c.1531A= (p.Asn511=)
c.1240A= (p.Asn414=)
c.1024A= (p.Asn342=)
15g.100048880G>ACA7757685ADAMTS17c.2568C>T (p.Cys856=)
c.2649C>T (p.Cys883=)
c.2718C>T (p.Cys906=)
c.2850C>T (p.Cys950=)
c.2781C>T (p.Cys927=)
c.2121C>T (p.Cys707=)
c.1752C>T (p.Cys584=)
c.1530C>T (p.Cys510=)
c.1239C>T (p.Cys413=)
c.1023C>T (p.Cys341=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.100048880G>CCA393692305ADAMTS17c.2568C>G (p.Cys856Trp)
c.2649C>G (p.Cys883Trp)
c.2718C>G (p.Cys906Trp)
c.2850C>G (p.Cys950Trp)
c.2781C>G (p.Cys927Trp)
c.2121C>G (p.Cys707Trp)
c.1752C>G (p.Cys584Trp)
c.1530C>G (p.Cys510Trp)
c.1239C>G (p.Cys413Trp)
c.1023C>G (p.Cys341Trp)
15g.100048880G=CA2199825570ADAMTS17c.2568C= (p.Cys856=)
c.2649C= (p.Cys883=)
c.2718C= (p.Cys906=)
c.2850C= (p.Cys950=)
c.2781C= (p.Cys927=)
c.2121C= (p.Cys707=)
c.1752C= (p.Cys584=)
c.1530C= (p.Cys510=)
c.1239C= (p.Cys413=)
c.1023C= (p.Cys341=)
15g.100048880G>TCA393692306ADAMTS17c.2568C>A (p.Cys856Ter)
c.2649C>A (p.Cys883Ter)
c.2718C>A (p.Cys906Ter)
c.2850C>A (p.Cys950Ter)
c.2781C>A (p.Cys927Ter)
c.2121C>A (p.Cys707Ter)
c.1752C>A (p.Cys584Ter)
c.1530C>A (p.Cys510Ter)
c.1239C>A (p.Cys413Ter)
c.1023C>A (p.Cys341Ter)
15g.100048881C>ACA393692312ADAMTS17c.2567G>T (p.Cys856Phe)
c.2648G>T (p.Cys883Phe)
c.2717G>T (p.Cys906Phe)
c.2849G>T (p.Cys950Phe)
c.2780G>T (p.Cys927Phe)
c.2120G>T (p.Cys707Phe)
c.1751G>T (p.Cys584Phe)
c.1529G>T (p.Cys510Phe)
c.1238G>T (p.Cys413Phe)
c.1022G>T (p.Cys341Phe)
15g.100048881C>GCA393692310ADAMTS17c.2567G>C (p.Cys856Ser)
c.2648G>C (p.Cys883Ser)
c.2717G>C (p.Cys906Ser)
c.2849G>C (p.Cys950Ser)
c.2780G>C (p.Cys927Ser)
c.2120G>C (p.Cys707Ser)
c.1751G>C (p.Cys584Ser)
c.1529G>C (p.Cys510Ser)
c.1238G>C (p.Cys413Ser)
c.1022G>C (p.Cys341Ser)
15g.100048881C>TCA393692308ADAMTS17c.2567G>A (p.Cys856Tyr)
c.2648G>A (p.Cys883Tyr)
c.2717G>A (p.Cys906Tyr)
c.2849G>A (p.Cys950Tyr)
c.2780G>A (p.Cys927Tyr)
c.2120G>A (p.Cys707Tyr)
c.1751G>A (p.Cys584Tyr)
c.1529G>A (p.Cys510Tyr)
c.1238G>A (p.Cys413Tyr)
c.1022G>A (p.Cys341Tyr)
 dbSNP gnomAD v4
15g.100048882A>CCA393692317ADAMTS17c.2566T>G (p.Cys856Gly)
c.2647T>G (p.Cys883Gly)
c.2716T>G (p.Cys906Gly)
c.2848T>G (p.Cys950Gly)
c.2779T>G (p.Cys927Gly)
c.2119T>G (p.Cys707Gly)
c.1750T>G (p.Cys584Gly)
c.1528T>G (p.Cys510Gly)
c.1237T>G (p.Cys413Gly)
c.1021T>G (p.Cys341Gly)
15g.100048882A>GCA393692314ADAMTS17c.2566T>C (p.Cys856Arg)
c.2647T>C (p.Cys883Arg)
c.2716T>C (p.Cys906Arg)
c.2848T>C (p.Cys950Arg)
c.2779T>C (p.Cys927Arg)
c.2119T>C (p.Cys707Arg)
c.1750T>C (p.Cys584Arg)
c.1528T>C (p.Cys510Arg)
c.1237T>C (p.Cys413Arg)
c.1021T>C (p.Cys341Arg)
15g.100048882A>TCA393692316ADAMTS17c.2566T>A (p.Cys856Ser)
c.2647T>A (p.Cys883Ser)
c.2716T>A (p.Cys906Ser)
c.2848T>A (p.Cys950Ser)
c.2779T>A (p.Cys927Ser)
c.2119T>A (p.Cys707Ser)
c.1750T>A (p.Cys584Ser)
c.1528T>A (p.Cys510Ser)
c.1237T>A (p.Cys413Ser)
c.1021T>A (p.Cys341Ser)
15g.100048883C>ACA393692319ADAMTS17c.2565G>T (p.Arg855Ser)
c.2646G>T (p.Arg882Ser)
c.2715G>T (p.Arg905Ser)
c.2847G>T (p.Arg949Ser)
c.2778G>T (p.Arg926Ser)
c.2118G>T (p.Arg706Ser)
c.1749G>T (p.Arg583Ser)
c.1527G>T (p.Arg509Ser)
c.1236G>T (p.Arg412Ser)
c.1020G>T (p.Arg340Ser)
15g.100048883C>GCA393692321ADAMTS17c.2565G>C (p.Arg855Ser)
c.2646G>C (p.Arg882Ser)
c.2715G>C (p.Arg905Ser)
c.2847G>C (p.Arg949Ser)
c.2778G>C (p.Arg926Ser)
c.2118G>C (p.Arg706Ser)
c.1749G>C (p.Arg583Ser)
c.1527G>C (p.Arg509Ser)
c.1236G>C (p.Arg412Ser)
c.1020G>C (p.Arg340Ser)
15g.100048883C>TCA492369921ADAMTS17c.2565G>A (p.Arg855=)
c.2646G>A (p.Arg882=)
c.2715G>A (p.Arg905=)
c.2847G>A (p.Arg949=)
c.2778G>A (p.Arg926=)
c.2118G>A (p.Arg706=)
c.1749G>A (p.Arg583=)
c.1527G>A (p.Arg509=)
c.1236G>A (p.Arg412=)
c.1020G>A (p.Arg340=)
 gnomAD v4
15g.100048884C>ACA393692323ADAMTS17c.2564G>T (p.Arg855Met)
c.2645G>T (p.Arg882Met)
c.2714G>T (p.Arg905Met)
c.2846G>T (p.Arg949Met)
c.2777G>T (p.Arg926Met)
c.2117G>T (p.Arg706Met)
c.1748G>T (p.Arg583Met)
c.1526G>T (p.Arg509Met)
c.1235G>T (p.Arg412Met)
c.1019G>T (p.Arg340Met)
15g.100048884C=CA2199825571ADAMTS17c.2564G= (p.Arg855=)
c.2645G= (p.Arg882=)
c.2714G= (p.Arg905=)
c.2846G= (p.Arg949=)
c.2777G= (p.Arg926=)
c.2117G= (p.Arg706=)
c.1748G= (p.Arg583=)
c.1526G= (p.Arg509=)
c.1235G= (p.Arg412=)
c.1019G= (p.Arg340=)
15g.100048884C>GCA393692324ADAMTS17c.2564G>C (p.Arg855Thr)
c.2645G>C (p.Arg882Thr)
c.2714G>C (p.Arg905Thr)
c.2846G>C (p.Arg949Thr)
c.2777G>C (p.Arg926Thr)
c.2117G>C (p.Arg706Thr)
c.1748G>C (p.Arg583Thr)
c.1526G>C (p.Arg509Thr)
c.1235G>C (p.Arg412Thr)
c.1019G>C (p.Arg340Thr)
15g.100048884C>TCA393692325ADAMTS17c.2564G>A (p.Arg855Lys)
c.2645G>A (p.Arg882Lys)
c.2714G>A (p.Arg905Lys)
c.2846G>A (p.Arg949Lys)
c.2777G>A (p.Arg926Lys)
c.2117G>A (p.Arg706Lys)
c.1748G>A (p.Arg583Lys)
c.1526G>A (p.Arg509Lys)
c.1235G>A (p.Arg412Lys)
c.1019G>A (p.Arg340Lys)
 dbSNP gnomAD v2 gnomAD v4
15g.100048885T>ACA393692326ADAMTS17c.2563A>T (p.Arg855Trp)
c.2644A>T (p.Arg882Trp)
c.2713A>T (p.Arg905Trp)
c.2845A>T (p.Arg949Trp)
c.2776A>T (p.Arg926Trp)
c.2116A>T (p.Arg706Trp)
c.1747A>T (p.Arg583Trp)
c.1525A>T (p.Arg509Trp)
c.1234A>T (p.Arg412Trp)
c.1018A>T (p.Arg340Trp)
15g.100048885T>CCA393692328ADAMTS17c.2563A>G (p.Arg855Gly)
c.2644A>G (p.Arg882Gly)
c.2713A>G (p.Arg905Gly)
c.2845A>G (p.Arg949Gly)
c.2776A>G (p.Arg926Gly)
c.2116A>G (p.Arg706Gly)
c.1747A>G (p.Arg583Gly)
c.1525A>G (p.Arg509Gly)
c.1234A>G (p.Arg412Gly)
c.1018A>G (p.Arg340Gly)
15g.100048885T>GCA492369922ADAMTS17c.2563A>C (p.Arg855=)
c.2644A>C (p.Arg882=)
c.2713A>C (p.Arg905=)
c.2845A>C (p.Arg949=)
c.2776A>C (p.Arg926=)
c.2116A>C (p.Arg706=)
c.1747A>C (p.Arg583=)
c.1525A>C (p.Arg509=)
c.1234A>C (p.Arg412=)
c.1018A>C (p.Arg340=)
15g.100048886T>ACA492369923ADAMTS17c.2562A>T (p.Arg854=)
c.2643A>T (p.Arg881=)
c.2712A>T (p.Arg904=)
c.2844A>T (p.Arg948=)
c.2775A>T (p.Arg925=)
c.2115A>T (p.Arg705=)
c.1746A>T (p.Arg582=)
c.1524A>T (p.Arg508=)
c.1233A>T (p.Arg411=)
c.1017A>T (p.Arg339=)
15g.100048886T>CCA492369924ADAMTS17c.2562A>G (p.Arg854=)
c.2643A>G (p.Arg881=)
c.2712A>G (p.Arg904=)
c.2844A>G (p.Arg948=)
c.2775A>G (p.Arg925=)
c.2115A>G (p.Arg705=)
c.1746A>G (p.Arg582=)
c.1524A>G (p.Arg508=)
c.1233A>G (p.Arg411=)
c.1017A>G (p.Arg339=)
15g.100048886T>GCA492369925ADAMTS17c.2562A>C (p.Arg854=)
c.2643A>C (p.Arg881=)
c.2712A>C (p.Arg904=)
c.2844A>C (p.Arg948=)
c.2775A>C (p.Arg925=)
c.2115A>C (p.Arg705=)
c.1746A>C (p.Arg582=)
c.1524A>C (p.Arg508=)
c.1233A>C (p.Arg411=)
c.1017A>C (p.Arg339=)
15g.100048887C>ACA393692329ADAMTS17c.2561G>T (p.Arg854Leu)
c.2642G>T (p.Arg881Leu)
c.2711G>T (p.Arg904Leu)
c.2843G>T (p.Arg948Leu)
c.2774G>T (p.Arg925Leu)
c.2114G>T (p.Arg705Leu)
c.1745G>T (p.Arg582Leu)
c.1523G>T (p.Arg508Leu)
c.1232G>T (p.Arg411Leu)
c.1016G>T (p.Arg339Leu)
15g.100048887C=CA2199825572ADAMTS17c.2561G= (p.Arg854=)
c.2642G= (p.Arg881=)
c.2711G= (p.Arg904=)
c.2843G= (p.Arg948=)
c.2774G= (p.Arg925=)
c.2114G= (p.Arg705=)
c.1745G= (p.Arg582=)
c.1523G= (p.Arg508=)
c.1232G= (p.Arg411=)
c.1016G= (p.Arg339=)
15g.100048887C>GCA393692331ADAMTS17c.2561G>C (p.Arg854Pro)
c.2642G>C (p.Arg881Pro)
c.2711G>C (p.Arg904Pro)
c.2843G>C (p.Arg948Pro)
c.2774G>C (p.Arg925Pro)
c.2114G>C (p.Arg705Pro)
c.1745G>C (p.Arg582Pro)
c.1523G>C (p.Arg508Pro)
c.1232G>C (p.Arg411Pro)
c.1016G>C (p.Arg339Pro)
15g.100048887C>TCA7757686ADAMTS17c.2561G>A (p.Arg854Gln)
c.2642G>A (p.Arg881Gln)
c.2711G>A (p.Arg904Gln)
c.2843G>A (p.Arg948Gln)
c.2774G>A (p.Arg925Gln)
c.2114G>A (p.Arg705Gln)
c.1745G>A (p.Arg582Gln)
c.1523G>A (p.Arg508Gln)
c.1232G>A (p.Arg411Gln)
c.1016G>A (p.Arg339Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048888G>ACA393692335ADAMTS17c.2560C>T (p.Arg854Ter)
c.2641C>T (p.Arg881Ter)
c.2710C>T (p.Arg904Ter)
c.2842C>T (p.Arg948Ter)
c.2773C>T (p.Arg925Ter)
c.2113C>T (p.Arg705Ter)
c.1744C>T (p.Arg582Ter)
c.1522C>T (p.Arg508Ter)
c.1231C>T (p.Arg411Ter)
c.1015C>T (p.Arg339Ter)
 ClinVar dbSNP gnomAD v4
15g.100048888G>CCA7757687ADAMTS17c.2560C>G (p.Arg854Gly)
c.2641C>G (p.Arg881Gly)
c.2710C>G (p.Arg904Gly)
c.2842C>G (p.Arg948Gly)
c.2773C>G (p.Arg925Gly)
c.2113C>G (p.Arg705Gly)
c.1744C>G (p.Arg582Gly)
c.1522C>G (p.Arg508Gly)
c.1231C>G (p.Arg411Gly)
c.1015C>G (p.Arg339Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.100048888G=CA2199825573ADAMTS17c.2560C= (p.Arg854=)
c.2641C= (p.Arg881=)
c.2710C= (p.Arg904=)
c.2842C= (p.Arg948=)
c.2773C= (p.Arg925=)
c.2113C= (p.Arg705=)
c.1744C= (p.Arg582=)
c.1522C= (p.Arg508=)
c.1231C= (p.Arg411=)
c.1015C= (p.Arg339=)
15g.100048888G>TCA275472958ADAMTS17c.2560C>A (p.Arg854=)
c.2641C>A (p.Arg881=)
c.2710C>A (p.Arg904=)
c.2842C>A (p.Arg948=)
c.2773C>A (p.Arg925=)
c.2113C>A (p.Arg705=)
c.1744C>A (p.Arg582=)
c.1522C>A (p.Arg508=)
c.1231C>A (p.Arg411=)
c.1015C>A (p.Arg339=)
 dbSNP gnomAD v4
15g.100048889G>ACA492369926ADAMTS17c.2559C>T (p.Val853=)
c.2640C>T (p.Val880=)
c.2709C>T (p.Val903=)
c.2841C>T (p.Val947=)
c.2772C>T (p.Val924=)
c.2112C>T (p.Val704=)
c.1743C>T (p.Val581=)
c.1521C>T (p.Val507=)
c.1230C>T (p.Val410=)
c.1014C>T (p.Val338=)
 dbSNP gnomAD v2
15g.100048889G>CCA492369927ADAMTS17c.2559C>G (p.Val853=)
c.2640C>G (p.Val880=)
c.2709C>G (p.Val903=)
c.2841C>G (p.Val947=)
c.2772C>G (p.Val924=)
c.2112C>G (p.Val704=)
c.1743C>G (p.Val581=)
c.1521C>G (p.Val507=)
c.1230C>G (p.Val410=)
c.1014C>G (p.Val338=)
15g.100048889G=CA2199825574ADAMTS17c.2559C= (p.Val853=)
c.2640C= (p.Val880=)
c.2709C= (p.Val903=)
c.2841C= (p.Val947=)
c.2772C= (p.Val924=)
c.2112C= (p.Val704=)
c.1743C= (p.Val581=)
c.1521C= (p.Val507=)
c.1230C= (p.Val410=)
c.1014C= (p.Val338=)
15g.100048889G>TCA492369928ADAMTS17c.2559C>A (p.Val853=)
c.2640C>A (p.Val880=)
c.2709C>A (p.Val903=)
c.2841C>A (p.Val947=)
c.2772C>A (p.Val924=)
c.2112C>A (p.Val704=)
c.1743C>A (p.Val581=)
c.1521C>A (p.Val507=)
c.1230C>A (p.Val410=)
c.1014C>A (p.Val338=)
 dbSNP gnomAD v3 gnomAD v4
15g.100048890A>CCA393692338ADAMTS17c.2558T>G (p.Val853Gly)
c.2639T>G (p.Val880Gly)
c.2708T>G (p.Val903Gly)
c.2840T>G (p.Val947Gly)
c.2771T>G (p.Val924Gly)
c.2111T>G (p.Val704Gly)
c.1742T>G (p.Val581Gly)
c.1520T>G (p.Val507Gly)
c.1229T>G (p.Val410Gly)
c.1013T>G (p.Val338Gly)
15g.100048890A>GCA393692340ADAMTS17c.2558T>C (p.Val853Ala)
c.2639T>C (p.Val880Ala)
c.2708T>C (p.Val903Ala)
c.2840T>C (p.Val947Ala)
c.2771T>C (p.Val924Ala)
c.2111T>C (p.Val704Ala)
c.1742T>C (p.Val581Ala)
c.1520T>C (p.Val507Ala)
c.1229T>C (p.Val410Ala)
c.1013T>C (p.Val338Ala)
15g.100048890A>TCA393692342ADAMTS17c.2558T>A (p.Val853Asp)
c.2639T>A (p.Val880Asp)
c.2708T>A (p.Val903Asp)
c.2840T>A (p.Val947Asp)
c.2771T>A (p.Val924Asp)
c.2111T>A (p.Val704Asp)
c.1742T>A (p.Val581Asp)
c.1520T>A (p.Val507Asp)
c.1229T>A (p.Val410Asp)
c.1013T>A (p.Val338Asp)
15g.100048891C>ACA393692344ADAMTS17c.2557G>T (p.Val853Phe)
c.2638G>T (p.Val880Phe)
c.2707G>T (p.Val903Phe)
c.2839G>T (p.Val947Phe)
c.2770G>T (p.Val924Phe)
c.2110G>T (p.Val704Phe)
c.1741G>T (p.Val581Phe)
c.1519G>T (p.Val507Phe)
c.1228G>T (p.Val410Phe)
c.1012G>T (p.Val338Phe)
 gnomAD v4
15g.100048891C=CA2199825575ADAMTS17c.2557G= (p.Val853=)
c.2638G= (p.Val880=)
c.2707G= (p.Val903=)
c.2839G= (p.Val947=)
c.2770G= (p.Val924=)
c.2110G= (p.Val704=)
c.1741G= (p.Val581=)
c.1519G= (p.Val507=)
c.1228G= (p.Val410=)
c.1012G= (p.Val338=)
15g.100048891C>GCA393692346ADAMTS17c.2557G>C (p.Val853Leu)
c.2638G>C (p.Val880Leu)
c.2707G>C (p.Val903Leu)
c.2839G>C (p.Val947Leu)
c.2770G>C (p.Val924Leu)
c.2110G>C (p.Val704Leu)
c.1741G>C (p.Val581Leu)
c.1519G>C (p.Val507Leu)
c.1228G>C (p.Val410Leu)
c.1012G>C (p.Val338Leu)
15g.100048891C>TCA393692348ADAMTS17c.2557G>A (p.Val853Ile)
c.2638G>A (p.Val880Ile)
c.2707G>A (p.Val903Ile)
c.2839G>A (p.Val947Ile)
c.2770G>A (p.Val924Ile)
c.2110G>A (p.Val704Ile)
c.1741G>A (p.Val581Ile)
c.1519G>A (p.Val507Ile)
c.1228G>A (p.Val410Ile)
c.1012G>A (p.Val338Ile)
 dbSNP gnomAD v3 gnomAD v4
15g.100048892C>ACA393692349ADAMTS17c.2556G>T (p.Gln852His)
c.2637G>T (p.Gln879His)
c.2706G>T (p.Gln902His)
c.2838G>T (p.Gln946His)
c.2769G>T (p.Gln923His)
c.2109G>T (p.Gln703His)
c.1740G>T (p.Gln580His)
c.1518G>T (p.Gln506His)
c.1227G>T (p.Gln409His)
c.1011G>T (p.Gln337His)
15g.100048892C>GCA393692351ADAMTS17c.2556G>C (p.Gln852His)
c.2637G>C (p.Gln879His)
c.2706G>C (p.Gln902His)
c.2838G>C (p.Gln946His)
c.2769G>C (p.Gln923His)
c.2109G>C (p.Gln703His)
c.1740G>C (p.Gln580His)
c.1518G>C (p.Gln506His)
c.1227G>C (p.Gln409His)
c.1011G>C (p.Gln337His)
15g.100048892C>TCA492369929ADAMTS17c.2556G>A (p.Gln852=)
c.2637G>A (p.Gln879=)
c.2706G>A (p.Gln902=)
c.2838G>A (p.Gln946=)
c.2769G>A (p.Gln923=)
c.2109G>A (p.Gln703=)
c.1740G>A (p.Gln580=)
c.1518G>A (p.Gln506=)
c.1227G>A (p.Gln409=)
c.1011G>A (p.Gln337=)
 gnomAD v4
15g.100048893T>ACA393692354ADAMTS17c.2555A>T (p.Gln852Leu)
c.2636A>T (p.Gln879Leu)
c.2705A>T (p.Gln902Leu)
c.2837A>T (p.Gln946Leu)
c.2768A>T (p.Gln923Leu)
c.2108A>T (p.Gln703Leu)
c.1739A>T (p.Gln580Leu)
c.1517A>T (p.Gln506Leu)
c.1226A>T (p.Gln409Leu)
c.1010A>T (p.Gln337Leu)
15g.100048893T>CCA393692356ADAMTS17c.2555A>G (p.Gln852Arg)
c.2636A>G (p.Gln879Arg)
c.2705A>G (p.Gln902Arg)
c.2837A>G (p.Gln946Arg)
c.2768A>G (p.Gln923Arg)
c.2108A>G (p.Gln703Arg)
c.1739A>G (p.Gln580Arg)
c.1517A>G (p.Gln506Arg)
c.1226A>G (p.Gln409Arg)
c.1010A>G (p.Gln337Arg)
15g.100048893T>GCA393692357ADAMTS17c.2555A>C (p.Gln852Pro)
c.2636A>C (p.Gln879Pro)
c.2705A>C (p.Gln902Pro)
c.2837A>C (p.Gln946Pro)
c.2768A>C (p.Gln923Pro)
c.2108A>C (p.Gln703Pro)
c.1739A>C (p.Gln580Pro)
c.1517A>C (p.Gln506Pro)
c.1226A>C (p.Gln409Pro)
c.1010A>C (p.Gln337Pro)
15g.100048894G>ACA393692360ADAMTS17c.2554C>T (p.Gln852Ter)
c.2635C>T (p.Gln879Ter)
c.2704C>T (p.Gln902Ter)
c.2836C>T (p.Gln946Ter)
c.2767C>T (p.Gln923Ter)
c.2107C>T (p.Gln703Ter)
c.1738C>T (p.Gln580Ter)
c.1516C>T (p.Gln506Ter)
c.1225C>T (p.Gln409Ter)
c.1009C>T (p.Gln337Ter)
15g.100048894G>CCA393692362ADAMTS17c.2554C>G (p.Gln852Glu)
c.2635C>G (p.Gln879Glu)
c.2704C>G (p.Gln902Glu)
c.2836C>G (p.Gln946Glu)
c.2767C>G (p.Gln923Glu)
c.2107C>G (p.Gln703Glu)
c.1738C>G (p.Gln580Glu)
c.1516C>G (p.Gln506Glu)
c.1225C>G (p.Gln409Glu)
c.1009C>G (p.Gln337Glu)
15g.100048894G>TCA393692363ADAMTS17c.2554C>A (p.Gln852Lys)
c.2635C>A (p.Gln879Lys)
c.2704C>A (p.Gln902Lys)
c.2836C>A (p.Gln946Lys)
c.2767C>A (p.Gln923Lys)
c.2107C>A (p.Gln703Lys)
c.1738C>A (p.Gln580Lys)
c.1516C>A (p.Gln506Lys)
c.1225C>A (p.Gln409Lys)
c.1009C>A (p.Gln337Lys)
15g.100048895G>ACA492369930ADAMTS17c.2553C>T (p.Pro851=)
c.2634C>T (p.Pro878=)
c.2703C>T (p.Pro901=)
c.2835C>T (p.Pro945=)
c.2766C>T (p.Pro922=)
c.2106C>T (p.Pro702=)
c.1737C>T (p.Pro579=)
c.1515C>T (p.Pro505=)
c.1224C>T (p.Pro408=)
c.1008C>T (p.Pro336=)
15g.100048895G>CCA492369931ADAMTS17c.2553C>G (p.Pro851=)
c.2634C>G (p.Pro878=)
c.2703C>G (p.Pro901=)
c.2835C>G (p.Pro945=)
c.2766C>G (p.Pro922=)
c.2106C>G (p.Pro702=)
c.1737C>G (p.Pro579=)
c.1515C>G (p.Pro505=)
c.1224C>G (p.Pro408=)
c.1008C>G (p.Pro336=)
15g.100048895G>TCA492369932ADAMTS17c.2553C>A (p.Pro851=)
c.2634C>A (p.Pro878=)
c.2703C>A (p.Pro901=)
c.2835C>A (p.Pro945=)
c.2766C>A (p.Pro922=)
c.2106C>A (p.Pro702=)
c.1737C>A (p.Pro579=)
c.1515C>A (p.Pro505=)
c.1224C>A (p.Pro408=)
c.1008C>A (p.Pro336=)
15g.100048896G>ACA393692369ADAMTS17c.2552C>T (p.Pro851Leu)
c.2633C>T (p.Pro878Leu)
c.2702C>T (p.Pro901Leu)
c.2834C>T (p.Pro945Leu)
c.2765C>T (p.Pro922Leu)
c.2105C>T (p.Pro702Leu)
c.1736C>T (p.Pro579Leu)
c.1514C>T (p.Pro505Leu)
c.1223C>T (p.Pro408Leu)
c.1007C>T (p.Pro336Leu)
15g.100048896G>CCA393692367ADAMTS17c.2552C>G (p.Pro851Arg)
c.2633C>G (p.Pro878Arg)
c.2702C>G (p.Pro901Arg)
c.2834C>G (p.Pro945Arg)
c.2765C>G (p.Pro922Arg)
c.2105C>G (p.Pro702Arg)
c.1736C>G (p.Pro579Arg)
c.1514C>G (p.Pro505Arg)
c.1223C>G (p.Pro408Arg)
c.1007C>G (p.Pro336Arg)
15g.100048896G>TCA393692365ADAMTS17c.2552C>A (p.Pro851His)
c.2633C>A (p.Pro878His)
c.2702C>A (p.Pro901His)
c.2834C>A (p.Pro945His)
c.2765C>A (p.Pro922His)
c.2105C>A (p.Pro702His)
c.1736C>A (p.Pro579His)
c.1514C>A (p.Pro505His)
c.1223C>A (p.Pro408His)
c.1007C>A (p.Pro336His)
15g.100048897G>ACA275472960ADAMTS17c.2551C>T (p.Pro851Ser)
c.2632C>T (p.Pro878Ser)
c.2701C>T (p.Pro901Ser)
c.2833C>T (p.Pro945Ser)
c.2764C>T (p.Pro922Ser)
c.2104C>T (p.Pro702Ser)
c.1735C>T (p.Pro579Ser)
c.1513C>T (p.Pro505Ser)
c.1222C>T (p.Pro408Ser)
c.1006C>T (p.Pro336Ser)
 dbSNP
15g.100048897G>CCA393692372ADAMTS17c.2551C>G (p.Pro851Ala)
c.2632C>G (p.Pro878Ala)
c.2701C>G (p.Pro901Ala)
c.2833C>G (p.Pro945Ala)
c.2764C>G (p.Pro922Ala)
c.2104C>G (p.Pro702Ala)
c.1735C>G (p.Pro579Ala)
c.1513C>G (p.Pro505Ala)
c.1222C>G (p.Pro408Ala)
c.1006C>G (p.Pro336Ala)
15g.100048897G=CA2199825576ADAMTS17c.2551C= (p.Pro851=)
c.2632C= (p.Pro878=)
c.2701C= (p.Pro901=)
c.2833C= (p.Pro945=)
c.2764C= (p.Pro922=)
c.2104C= (p.Pro702=)
c.1735C= (p.Pro579=)
c.1513C= (p.Pro505=)
c.1222C= (p.Pro408=)
c.1006C= (p.Pro336=)
15g.100048897G>TCA393692375ADAMTS17c.2551C>A (p.Pro851Thr)
c.2632C>A (p.Pro878Thr)
c.2701C>A (p.Pro901Thr)
c.2833C>A (p.Pro945Thr)
c.2764C>A (p.Pro922Thr)
c.2104C>A (p.Pro702Thr)
c.1735C>A (p.Pro579Thr)
c.1513C>A (p.Pro505Thr)
c.1222C>A (p.Pro408Thr)
c.1006C>A (p.Pro336Thr)
15g.100048898C>ACA393692377ADAMTS17c.2550G>T (p.Glu850Asp)
c.2631G>T (p.Glu877Asp)
c.2700G>T (p.Glu900Asp)
c.2832G>T (p.Glu944Asp)
c.2763G>T (p.Glu921Asp)
c.2103G>T (p.Glu701Asp)
c.1734G>T (p.Glu578Asp)
c.1512G>T (p.Glu504Asp)
c.1221G>T (p.Glu407Asp)
c.1005G>T (p.Glu335Asp)
15g.100048898C>GCA393692379ADAMTS17c.2550G>C (p.Glu850Asp)
c.2631G>C (p.Glu877Asp)
c.2700G>C (p.Glu900Asp)
c.2832G>C (p.Glu944Asp)
c.2763G>C (p.Glu921Asp)
c.2103G>C (p.Glu701Asp)
c.1734G>C (p.Glu578Asp)
c.1512G>C (p.Glu504Asp)
c.1221G>C (p.Glu407Asp)
c.1005G>C (p.Glu335Asp)
15g.100048898C>TCA492369933ADAMTS17c.2550G>A (p.Glu850=)
c.2631G>A (p.Glu877=)
c.2700G>A (p.Glu900=)
c.2832G>A (p.Glu944=)
c.2763G>A (p.Glu921=)
c.2103G>A (p.Glu701=)
c.1734G>A (p.Glu578=)
c.1512G>A (p.Glu504=)
c.1221G>A (p.Glu407=)
c.1005G>A (p.Glu335=)
15g.100048899T>ACA393692381ADAMTS17c.2549A>T (p.Glu850Val)
c.2630A>T (p.Glu877Val)
c.2699A>T (p.Glu900Val)
c.2831A>T (p.Glu944Val)
c.2762A>T (p.Glu921Val)
c.2102A>T (p.Glu701Val)
c.1733A>T (p.Glu578Val)
c.1511A>T (p.Glu504Val)
c.1220A>T (p.Glu407Val)
c.1004A>T (p.Glu335Val)
15g.100048899T>CCA393692382ADAMTS17c.2549A>G (p.Glu850Gly)
c.2630A>G (p.Glu877Gly)
c.2699A>G (p.Glu900Gly)
c.2831A>G (p.Glu944Gly)
c.2762A>G (p.Glu921Gly)
c.2102A>G (p.Glu701Gly)
c.1733A>G (p.Glu578Gly)
c.1511A>G (p.Glu504Gly)
c.1220A>G (p.Glu407Gly)
c.1004A>G (p.Glu335Gly)
15g.100048899T>GCA393692384ADAMTS17c.2549A>C (p.Glu850Ala)
c.2630A>C (p.Glu877Ala)
c.2699A>C (p.Glu900Ala)
c.2831A>C (p.Glu944Ala)
c.2762A>C (p.Glu921Ala)
c.2102A>C (p.Glu701Ala)
c.1733A>C (p.Glu578Ala)
c.1511A>C (p.Glu504Ala)
c.1220A>C (p.Glu407Ala)
c.1004A>C (p.Glu335Ala)
15g.100048900C>ACA393692391ADAMTS17c.2548G>T (p.Glu850Ter)
c.2629G>T (p.Glu877Ter)
c.2698G>T (p.Glu900Ter)
c.2830G>T (p.Glu944Ter)
c.2761G>T (p.Glu921Ter)
c.2101G>T (p.Glu701Ter)
c.1732G>T (p.Glu578Ter)
c.1510G>T (p.Glu504Ter)
c.1219G>T (p.Glu407Ter)
c.1003G>T (p.Glu335Ter)
15g.100048900C=CA2199825577ADAMTS17c.2548G= (p.Glu850=)
c.2629G= (p.Glu877=)
c.2698G= (p.Glu900=)
c.2830G= (p.Glu944=)
c.2761G= (p.Glu921=)
c.2101G= (p.Glu701=)
c.1732G= (p.Glu578=)
c.1510G= (p.Glu504=)
c.1219G= (p.Glu407=)
c.1003G= (p.Glu335=)
15g.100048900C>GCA393692393ADAMTS17c.2548G>C (p.Glu850Gln)
c.2629G>C (p.Glu877Gln)
c.2698G>C (p.Glu900Gln)
c.2830G>C (p.Glu944Gln)
c.2761G>C (p.Glu921Gln)
c.2101G>C (p.Glu701Gln)
c.1732G>C (p.Glu578Gln)
c.1510G>C (p.Glu504Gln)
c.1219G>C (p.Glu407Gln)
c.1003G>C (p.Glu335Gln)
15g.100048900C>TCA393692395ADAMTS17c.2548G>A (p.Glu850Lys)
c.2629G>A (p.Glu877Lys)
c.2698G>A (p.Glu900Lys)
c.2830G>A (p.Glu944Lys)
c.2761G>A (p.Glu921Lys)
c.2101G>A (p.Glu701Lys)
c.1732G>A (p.Glu578Lys)
c.1510G>A (p.Glu504Lys)
c.1219G>A (p.Glu407Lys)
c.1003G>A (p.Glu335Lys)
 dbSNP
15g.100048901T>ACA492369934ADAMTS17c.2547A>T (p.Pro849=)
c.2628A>T (p.Pro876=)
c.2697A>T (p.Pro899=)
c.2829A>T (p.Pro943=)
c.2760A>T (p.Pro920=)
c.2100A>T (p.Pro700=)
c.1731A>T (p.Pro577=)
c.1509A>T (p.Pro503=)
c.1218A>T (p.Pro406=)
c.1002A>T (p.Pro334=)
15g.100048901T>CCA492369936ADAMTS17c.2547A>G (p.Pro849=)
c.2628A>G (p.Pro876=)
c.2697A>G (p.Pro899=)
c.2829A>G (p.Pro943=)
c.2760A>G (p.Pro920=)
c.2100A>G (p.Pro700=)
c.1731A>G (p.Pro577=)
c.1509A>G (p.Pro503=)
c.1218A>G (p.Pro406=)
c.1002A>G (p.Pro334=)
15g.100048901T>GCA492369937ADAMTS17c.2547A>C (p.Pro849=)
c.2628A>C (p.Pro876=)
c.2697A>C (p.Pro899=)
c.2829A>C (p.Pro943=)
c.2760A>C (p.Pro920=)
c.2100A>C (p.Pro700=)
c.1731A>C (p.Pro577=)
c.1509A>C (p.Pro503=)
c.1218A>C (p.Pro406=)
c.1002A>C (p.Pro334=)
15g.100048902G>ACA393692398ADAMTS17c.2546C>T (p.Pro849Leu)
c.2627C>T (p.Pro876Leu)
c.2696C>T (p.Pro899Leu)
c.2828C>T (p.Pro943Leu)
c.2759C>T (p.Pro920Leu)
c.2099C>T (p.Pro700Leu)
c.1730C>T (p.Pro577Leu)
c.1508C>T (p.Pro503Leu)
c.1217C>T (p.Pro406Leu)
c.1001C>T (p.Pro334Leu)
15g.100048902G>CCA393692399ADAMTS17c.2546C>G (p.Pro849Arg)
c.2627C>G (p.Pro876Arg)
c.2696C>G (p.Pro899Arg)
c.2828C>G (p.Pro943Arg)
c.2759C>G (p.Pro920Arg)
c.2099C>G (p.Pro700Arg)
c.1730C>G (p.Pro577Arg)
c.1508C>G (p.Pro503Arg)
c.1217C>G (p.Pro406Arg)
c.1001C>G (p.Pro334Arg)
15g.100048902G>TCA393692400ADAMTS17c.2546C>A (p.Pro849Gln)
c.2627C>A (p.Pro876Gln)
c.2696C>A (p.Pro899Gln)
c.2828C>A (p.Pro943Gln)
c.2759C>A (p.Pro920Gln)
c.2099C>A (p.Pro700Gln)
c.1730C>A (p.Pro577Gln)
c.1508C>A (p.Pro503Gln)
c.1217C>A (p.Pro406Gln)
c.1001C>A (p.Pro334Gln)
15g.100048903G>ACA393692407ADAMTS17c.2545C>T (p.Pro849Ser)
c.2626C>T (p.Pro876Ser)
c.2695C>T (p.Pro899Ser)
c.2827C>T (p.Pro943Ser)
c.2758C>T (p.Pro920Ser)
c.2098C>T (p.Pro700Ser)
c.1729C>T (p.Pro577Ser)
c.1507C>T (p.Pro503Ser)
c.1216C>T (p.Pro406Ser)
c.1000C>T (p.Pro334Ser)
15g.100048903G>CCA393692405ADAMTS17c.2545C>G (p.Pro849Ala)
c.2626C>G (p.Pro876Ala)
c.2695C>G (p.Pro899Ala)
c.2827C>G (p.Pro943Ala)
c.2758C>G (p.Pro920Ala)
c.2098C>G (p.Pro700Ala)
c.1729C>G (p.Pro577Ala)
c.1507C>G (p.Pro503Ala)
c.1216C>G (p.Pro406Ala)
c.1000C>G (p.Pro334Ala)
15g.100048903G>TCA393692403ADAMTS17c.2545C>A (p.Pro849Thr)
c.2626C>A (p.Pro876Thr)
c.2695C>A (p.Pro899Thr)
c.2827C>A (p.Pro943Thr)
c.2758C>A (p.Pro920Thr)
c.2098C>A (p.Pro700Thr)
c.1729C>A (p.Pro577Thr)
c.1507C>A (p.Pro503Thr)
c.1216C>A (p.Pro406Thr)
c.1000C>A (p.Pro334Thr)
15g.100048904G>ACA492369938ADAMTS17c.2544C>T (p.Arg848=)
c.2625C>T (p.Arg875=)
c.2694C>T (p.Arg898=)
c.2826C>T (p.Arg942=)
c.2757C>T (p.Arg919=)
c.2097C>T (p.Arg699=)
c.1728C>T (p.Arg576=)
c.1506C>T (p.Arg502=)
c.1215C>T (p.Arg405=)
c.999C>T (p.Arg333=)
 dbSNP gnomAD v4
15g.100048904G>CCA492369940ADAMTS17c.2544C>G (p.Arg848=)
c.2625C>G (p.Arg875=)
c.2694C>G (p.Arg898=)
c.2826C>G (p.Arg942=)
c.2757C>G (p.Arg919=)
c.2097C>G (p.Arg699=)
c.1728C>G (p.Arg576=)
c.1506C>G (p.Arg502=)
c.1215C>G (p.Arg405=)
c.999C>G (p.Arg333=)
15g.100048904G=CA2199825578ADAMTS17c.2544C= (p.Arg848=)
c.2625C= (p.Arg875=)
c.2694C= (p.Arg898=)
c.2826C= (p.Arg942=)
c.2757C= (p.Arg919=)
c.2097C= (p.Arg699=)
c.1728C= (p.Arg576=)
c.1506C= (p.Arg502=)
c.1215C= (p.Arg405=)
c.999C= (p.Arg333=)
15g.100048904G>TCA492369939ADAMTS17c.2544C>A (p.Arg848=)
c.2625C>A (p.Arg875=)
c.2694C>A (p.Arg898=)
c.2826C>A (p.Arg942=)
c.2757C>A (p.Arg919=)
c.2097C>A (p.Arg699=)
c.1728C>A (p.Arg576=)
c.1506C>A (p.Arg502=)
c.1215C>A (p.Arg405=)
c.999C>A (p.Arg333=)
 dbSNP gnomAD v3 gnomAD v4
15g.100048905C>ACA393692409ADAMTS17c.2543G>T (p.Arg848Leu)
c.2624G>T (p.Arg875Leu)
c.2693G>T (p.Arg898Leu)
c.2825G>T (p.Arg942Leu)
c.2756G>T (p.Arg919Leu)
c.2096G>T (p.Arg699Leu)
c.1727G>T (p.Arg576Leu)
c.1505G>T (p.Arg502Leu)
c.1214G>T (p.Arg405Leu)
c.998G>T (p.Arg333Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.100048905C=CA2199825579ADAMTS17c.2543G= (p.Arg848=)
c.2624G= (p.Arg875=)
c.2693G= (p.Arg898=)
c.2825G= (p.Arg942=)
c.2756G= (p.Arg919=)
c.2096G= (p.Arg699=)
c.1727G= (p.Arg576=)
c.1505G= (p.Arg502=)
c.1214G= (p.Arg405=)
c.998G= (p.Arg333=)
15g.100048905C>GCA393692410ADAMTS17c.2543G>C (p.Arg848Pro)
c.2624G>C (p.Arg875Pro)
c.2693G>C (p.Arg898Pro)
c.2825G>C (p.Arg942Pro)
c.2756G>C (p.Arg919Pro)
c.2096G>C (p.Arg699Pro)
c.1727G>C (p.Arg576Pro)
c.1505G>C (p.Arg502Pro)
c.1214G>C (p.Arg405Pro)
c.998G>C (p.Arg333Pro)
 gnomAD v4
15g.100048905C>TCA7757688ADAMTS17c.2543G>A (p.Arg848His)
c.2624G>A (p.Arg875His)
c.2693G>A (p.Arg898His)
c.2825G>A (p.Arg942His)
c.2756G>A (p.Arg919His)
c.2096G>A (p.Arg699His)
c.1727G>A (p.Arg576His)
c.1505G>A (p.Arg502His)
c.1214G>A (p.Arg405His)
c.998G>A (p.Arg333His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched