Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.100048791_100048799del | CA2630606033 | ADAMTS17 | c.2591+58_2591+66del (n.2591+58_2591+66del) c.2672+58_2672+66del (n.2672+58_2672+66del) c.2741+58_2741+66del (n.2741+58_2741+66del) c.2873+58_2873+66del (n.2873+58_2873+66del) c.2804+58_2804+66del (n.2804+58_2804+66del) c.2144+58_2144+66del (n.2144+58_2144+66del) c.1775+58_1775+66del (n.1775+58_1775+66del) c.1553+58_1553+66del (n.1553+58_1553+66del) c.1262+58_1262+66del (n.1262+58_1262+66del) c.1046+58_1046+66del (n.1046+58_1046+66del) | gnomAD v4 |
15 | g.100048795C>A | CA2630606038 | ADAMTS17 | c.2591+62G>T (n.2591+62G>T) c.2672+62G>T (n.2672+62G>T) c.2741+62G>T (n.2741+62G>T) c.2873+62G>T (n.2873+62G>T) c.2804+62G>T (n.2804+62G>T) c.2144+62G>T (n.2144+62G>T) c.1775+62G>T (n.1775+62G>T) c.1553+62G>T (n.1553+62G>T) c.1262+62G>T (n.1262+62G>T) c.1046+62G>T (n.1046+62G>T) | gnomAD v4 |
15 | g.100048795C= | CA2199825524 | ADAMTS17 | c.2591+62G= (n.2591+62G=) c.2672+62G= (n.2672+62G=) c.2741+62G= (n.2741+62G=) c.2873+62G= (n.2873+62G=) c.2804+62G= (n.2804+62G=) c.2144+62G= (n.2144+62G=) c.1775+62G= (n.1775+62G=) c.1553+62G= (n.1553+62G=) c.1262+62G= (n.1262+62G=) c.1046+62G= (n.1046+62G=) | |
15 | g.100048795C>G | CA2199825525 | ADAMTS17 | c.2591+62G>C (n.2591+62G>C) c.2672+62G>C (n.2672+62G>C) c.2741+62G>C (n.2741+62G>C) c.2873+62G>C (n.2873+62G>C) c.2804+62G>C (n.2804+62G>C) c.2144+62G>C (n.2144+62G>C) c.1775+62G>C (n.1775+62G>C) c.1553+62G>C (n.1553+62G>C) c.1262+62G>C (n.1262+62G>C) c.1046+62G>C (n.1046+62G>C) | dbSNP gnomAD v4 |
15 | g.100048795C>T | CA2630606039 | ADAMTS17 | c.2591+62G>A (n.2591+62G>A) c.2672+62G>A (n.2672+62G>A) c.2741+62G>A (n.2741+62G>A) c.2873+62G>A (n.2873+62G>A) c.2804+62G>A (n.2804+62G>A) c.2144+62G>A (n.2144+62G>A) c.1775+62G>A (n.1775+62G>A) c.1553+62G>A (n.1553+62G>A) c.1262+62G>A (n.1262+62G>A) c.1046+62G>A (n.1046+62G>A) | gnomAD v4 |
15 | g.100048796C>A | CA710550783 | ADAMTS17 | c.2591+61G>T (n.2591+61G>T) c.2672+61G>T (n.2672+61G>T) c.2741+61G>T (n.2741+61G>T) c.2873+61G>T (n.2873+61G>T) c.2804+61G>T (n.2804+61G>T) c.2144+61G>T (n.2144+61G>T) c.1775+61G>T (n.1775+61G>T) c.1553+61G>T (n.1553+61G>T) c.1262+61G>T (n.1262+61G>T) c.1046+61G>T (n.1046+61G>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.100048796C= | CA2199825526 | ADAMTS17 | c.2591+61G= (n.2591+61G=) c.2672+61G= (n.2672+61G=) c.2741+61G= (n.2741+61G=) c.2873+61G= (n.2873+61G=) c.2804+61G= (n.2804+61G=) c.2144+61G= (n.2144+61G=) c.1775+61G= (n.1775+61G=) c.1553+61G= (n.1553+61G=) c.1262+61G= (n.1262+61G=) c.1046+61G= (n.1046+61G=) | |
15 | g.100048796C>G | CA2630606040 | ADAMTS17 | c.2591+61G>C (n.2591+61G>C) c.2672+61G>C (n.2672+61G>C) c.2741+61G>C (n.2741+61G>C) c.2873+61G>C (n.2873+61G>C) c.2804+61G>C (n.2804+61G>C) c.2144+61G>C (n.2144+61G>C) c.1775+61G>C (n.1775+61G>C) c.1553+61G>C (n.1553+61G>C) c.1262+61G>C (n.1262+61G>C) c.1046+61G>C (n.1046+61G>C) | gnomAD v4 |
15 | g.100048797A>G | CA2630606041 | ADAMTS17 | c.2591+60T>C (n.2591+60T>C) c.2672+60T>C (n.2672+60T>C) c.2741+60T>C (n.2741+60T>C) c.2873+60T>C (n.2873+60T>C) c.2804+60T>C (n.2804+60T>C) c.2144+60T>C (n.2144+60T>C) c.1775+60T>C (n.1775+60T>C) c.1553+60T>C (n.1553+60T>C) c.1262+60T>C (n.1262+60T>C) c.1046+60T>C (n.1046+60T>C) | gnomAD v4 |
15 | g.100048798C= | CA2199825527 | ADAMTS17 | c.2591+59G= (n.2591+59G=) c.2672+59G= (n.2672+59G=) c.2741+59G= (n.2741+59G=) c.2873+59G= (n.2873+59G=) c.2804+59G= (n.2804+59G=) c.2144+59G= (n.2144+59G=) c.1775+59G= (n.1775+59G=) c.1553+59G= (n.1553+59G=) c.1262+59G= (n.1262+59G=) c.1046+59G= (n.1046+59G=) | |
15 | g.100048798C>T | CA2199825528 | ADAMTS17 | c.2591+59G>A (n.2591+59G>A) c.2672+59G>A (n.2672+59G>A) c.2741+59G>A (n.2741+59G>A) c.2873+59G>A (n.2873+59G>A) c.2804+59G>A (n.2804+59G>A) c.2144+59G>A (n.2144+59G>A) c.1775+59G>A (n.1775+59G>A) c.1553+59G>A (n.1553+59G>A) c.1262+59G>A (n.1262+59G>A) c.1046+59G>A (n.1046+59G>A) | dbSNP gnomAD v4 |
15 | g.100048799_100048800insAAA | CA2630606042 | ADAMTS17 | c.2591+57_2591+58insTTT (n.2591+57_2591+58insTTT) c.2672+57_2672+58insTTT (n.2672+57_2672+58insTTT) c.2741+57_2741+58insTTT (n.2741+57_2741+58insTTT) c.2873+57_2873+58insTTT (n.2873+57_2873+58insTTT) c.2804+57_2804+58insTTT (n.2804+57_2804+58insTTT) c.2144+57_2144+58insTTT (n.2144+57_2144+58insTTT) c.1775+57_1775+58insTTT (n.1775+57_1775+58insTTT) c.1553+57_1553+58insTTT (n.1553+57_1553+58insTTT) c.1262+57_1262+58insTTT (n.1262+57_1262+58insTTT) c.1046+57_1046+58insTTT (n.1046+57_1046+58insTTT) | gnomAD v4 |
15 | g.100048800G>A | CA2630606043 | ADAMTS17 | c.2591+57C>T (n.2591+57C>T) c.2672+57C>T (n.2672+57C>T) c.2741+57C>T (n.2741+57C>T) c.2873+57C>T (n.2873+57C>T) c.2804+57C>T (n.2804+57C>T) c.2144+57C>T (n.2144+57C>T) c.1775+57C>T (n.1775+57C>T) c.1553+57C>T (n.1553+57C>T) c.1262+57C>T (n.1262+57C>T) c.1046+57C>T (n.1046+57C>T) | dbSNP gnomAD v4 |
15 | g.100048801A>G | CA2630606044 | ADAMTS17 | c.2591+56T>C (n.2591+56T>C) c.2672+56T>C (n.2672+56T>C) c.2741+56T>C (n.2741+56T>C) c.2873+56T>C (n.2873+56T>C) c.2804+56T>C (n.2804+56T>C) c.2144+56T>C (n.2144+56T>C) c.1775+56T>C (n.1775+56T>C) c.1553+56T>C (n.1553+56T>C) c.1262+56T>C (n.1262+56T>C) c.1046+56T>C (n.1046+56T>C) | gnomAD v4 |
15 | g.100048802T>A | CA2630606046 | ADAMTS17 | c.2591+55A>T (n.2591+55A>T) c.2672+55A>T (n.2672+55A>T) c.2741+55A>T (n.2741+55A>T) c.2873+55A>T (n.2873+55A>T) c.2804+55A>T (n.2804+55A>T) c.2144+55A>T (n.2144+55A>T) c.1775+55A>T (n.1775+55A>T) c.1553+55A>T (n.1553+55A>T) c.1262+55A>T (n.1262+55A>T) c.1046+55A>T (n.1046+55A>T) | gnomAD v4 |
15 | g.100048802T>C | CA2630606045 | ADAMTS17 | c.2591+55A>G (n.2591+55A>G) c.2672+55A>G (n.2672+55A>G) c.2741+55A>G (n.2741+55A>G) c.2873+55A>G (n.2873+55A>G) c.2804+55A>G (n.2804+55A>G) c.2144+55A>G (n.2144+55A>G) c.1775+55A>G (n.1775+55A>G) c.1553+55A>G (n.1553+55A>G) c.1262+55A>G (n.1262+55A>G) c.1046+55A>G (n.1046+55A>G) | gnomAD v4 |
15 | g.100048802T>G | CA2199825530 | ADAMTS17 | c.2591+55A>C (n.2591+55A>C) c.2672+55A>C (n.2672+55A>C) c.2741+55A>C (n.2741+55A>C) c.2873+55A>C (n.2873+55A>C) c.2804+55A>C (n.2804+55A>C) c.2144+55A>C (n.2144+55A>C) c.1775+55A>C (n.1775+55A>C) c.1553+55A>C (n.1553+55A>C) c.1262+55A>C (n.1262+55A>C) c.1046+55A>C (n.1046+55A>C) | dbSNP |
15 | g.100048802T= | CA2199825529 | ADAMTS17 | c.2591+55A= (n.2591+55A=) c.2672+55A= (n.2672+55A=) c.2741+55A= (n.2741+55A=) c.2873+55A= (n.2873+55A=) c.2804+55A= (n.2804+55A=) c.2144+55A= (n.2144+55A=) c.1775+55A= (n.1775+55A=) c.1553+55A= (n.1553+55A=) c.1262+55A= (n.1262+55A=) c.1046+55A= (n.1046+55A=) | |
15 | g.100048805_100048806insC | CA2805445421 | ADAMTS17 | c.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) | |
15 | g.100048807C= | CA2199825531 | ADAMTS17 | c.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=) | |
15 | g.100048807C>G | CA620083755 | ADAMTS17 | c.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 |
15 | g.100048807C>T | CA620083759 | ADAMTS17 | c.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 |
15 | g.100048807_100048808insCGTATCATTAAAAAAAAAAC | CA2805445422 | ADAMTS17 | c.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) | |
15 | g.100048808T>G | CA2630606047 | ADAMTS17 | c.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 |
15 | g.100048811C= | CA2199825532 | ADAMTS17 | c.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=) | |
15 | g.100048811C>T | CA7757668 | ADAMTS17 | c.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 |
15 | g.100048812G>A | CA7757669 | ADAMTS17 | c.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 |
15 | g.100048812G= | CA2199825533 | ADAMTS17 | c.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=) | |
15 | g.100048814C>T | CA2630606048 | ADAMTS17 | c.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 |
15 | g.100048815C>A | CA620083767 | ADAMTS17 | c.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 |
15 | g.100048815C= | CA2199825534 | ADAMTS17 | c.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=) | |
15 | g.100048816C= | CA2199825535 | ADAMTS17 | c.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=) | |
15 | g.100048816C>G | CA2630606049 | ADAMTS17 | c.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 |
15 | g.100048816C>T | CA620083771 | ADAMTS17 | c.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 |
15 | g.100048818G>A | CA275472881 | ADAMTS17 | c.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 |
15 | g.100048818G>C | CA2805445423 | ADAMTS17 | c.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) | |
15 | g.100048818G= | CA2199825536 | ADAMTS17 | c.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=) | |
15 | g.100048818G>T | CA2630606050 | ADAMTS17 | c.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 |
15 | g.100048820C= | CA2199825537 | ADAMTS17 | c.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=) | |
15 | g.100048820C>T | CA7757670 | ADAMTS17 | c.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 |
15 | g.100048821T>A | CA275472901 | ADAMTS17 | c.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 |
15 | g.100048821T>C | CA2630606051 | ADAMTS17 | c.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 |
15 | g.100048821T= | CA2199825538 | ADAMTS17 | c.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=) | |
15 | g.100048822C>G | CA2630606052 | ADAMTS17 | c.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 |
15 | g.100048823T>C | CA7757671 | ADAMTS17 | c.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 |
15 | g.100048823T= | CA2199825539 | ADAMTS17 | c.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=) | |
15 | g.100048824G>A | CA2630606054 | ADAMTS17 | c.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 |
15 | g.100048824G>T | CA2630606053 | ADAMTS17 | c.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 |
15 | g.100048826T>C | CA620083776 | ADAMTS17 | c.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 |
15 | g.100048826T>G | CA2199825541 | ADAMTS17 | c.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 |
15 | g.100048826T= | CA2199825540 | ADAMTS17 | c.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=) | |
15 | g.100048827G>T | CA2575845736 | ADAMTS17 | c.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) | |
15 | g.100048828G>A | CA2630606055 | ADAMTS17 | c.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 |
15 | g.100048829G>A | CA2630606056 | ADAMTS17 | c.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 |
15 | g.100048829G= | CA2199825542 | ADAMTS17 | c.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=) | |
15 | g.100048829G>T | CA7757672 | ADAMTS17 | c.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 |
15 | g.100048831C>G | CA2630606057 | ADAMTS17 | c.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 |
15 | g.100048834A= | CA2199825543 | ADAMTS17 | c.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=) | |
15 | g.100048834A>G | CA2199825544 | ADAMTS17 | c.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 |
15 | g.100048836C= | CA2199825545 | ADAMTS17 | c.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=) | |
15 | g.100048836C>G | CA7757673 | ADAMTS17 | c.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 |
15 | g.100048836C>T | CA2630606058 | ADAMTS17 | c.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 |
15 | g.100048838A= | CA2199825546 | ADAMTS17 | c.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=) | |
15 | g.100048838A>G | CA7757674 | ADAMTS17 | c.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 |
15 | g.100048839C>T | CA2805445424 | ADAMTS17 | c.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) | |
15 | g.100048841G>A | CA620083780 | ADAMTS17 | c.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 |
15 | g.100048841G= | CA2199825547 | ADAMTS17 | c.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=) | |
15 | g.100048842A>C | CA2630606059 | ADAMTS17 | c.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 |
15 | g.100048843A= | CA2199825548 | ADAMTS17 | c.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=) | |
15 | g.100048843A>C | CA7757675 | ADAMTS17 | c.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 |
15 | g.100048843A>G | CA2199825549 | ADAMTS17 | c.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 |
15 | g.100048844C>A | CA2630606060 | ADAMTS17 | c.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 |
15 | g.100048845C= | CA2199825551 | ADAMTS17 | c.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=) | |
15 | g.100048845C>G | CA7757676 | ADAMTS17 | c.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 |
15 | g.100048845C>T | CA2199825550 | ADAMTS17 | c.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 |
15 | g.100048846C>A | CA2731743856 | ADAMTS17 | c.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 |
15 | g.100048848G>A | CA973381816 | ADAMTS17 | c.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 |
15 | g.100048848G= | CA2199825552 | ADAMTS17 | c.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=) | |
15 | g.100048851T>A | CA2581239185 | ADAMTS17 | c.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) | |
15 | g.100048851T>C | CA7757677 | ADAMTS17 | c.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 |
15 | g.100048851T>G | CA2575845737 | ADAMTS17 | c.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) | |
15 | g.100048851T= | CA2199825553 | ADAMTS17 | c.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=) | |
15 | g.100048852C>T | CA645593800 | ADAMTS17 | c.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 |
15 | g.100048855A>C | CA393692242 | ADAMTS17 | c.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) | |
15 | g.100048855A>G | CA393692243 | ADAMTS17 | c.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) | |
15 | g.100048855A>T | CA393692244 | ADAMTS17 | c.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) | |
15 | g.100048856C>A | CA393692246 | ADAMTS17 | c.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) | |
15 | g.100048856C= | CA2199825554 | ADAMTS17 | c.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=) | |
15 | g.100048856C>G | CA393692245 | ADAMTS17 | c.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) | |
15 | g.100048856C>T | CA7757678 | ADAMTS17 | c.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 |
15 | g.100048857C>A | CA393692247 | ADAMTS17 | c.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) | |
15 | g.100048857C= | CA2199825555 | ADAMTS17 | c.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=) | |
15 | g.100048857C>G | CA393692248 | ADAMTS17 | c.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 |
15 | g.100048857C>T | CA7757679 | ADAMTS17 | c.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 |
15 | g.100048858G>A | CA7757680 | ADAMTS17 | c.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 |
15 | g.100048858G>C | CA393692249 | ADAMTS17 | c.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) | |
15 | g.100048858G= | CA2199825556 | ADAMTS17 | c.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=) | |
15 | g.100048858G>T | CA492369909 | ADAMTS17 | c.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=) | |
15 | g.100048859T>A | CA492369910 | ADAMTS17 | c.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=) | |
15 | g.100048859T>C | CA492369911 | ADAMTS17 | c.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 |
15 | g.100048859T>G | CA492369912 | ADAMTS17 | c.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=) | |
15 | g.100048860G>A | CA275472938 | ADAMTS17 | c.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 |
15 | g.100048860G>C | CA393692250 | ADAMTS17 | c.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) | |
15 | g.100048860G= | CA2199825557 | ADAMTS17 | c.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=) | |
15 | g.100048860G>T | CA393692251 | ADAMTS17 | c.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) | |
15 | g.100048861A>C | CA393692252 | ADAMTS17 | c.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) | |
15 | g.100048861A>G | CA393692253 | ADAMTS17 | c.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) | |
15 | g.100048861A>T | CA393692254 | ADAMTS17 | c.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) | |
15 | g.100048862C>A | CA393692255 | ADAMTS17 | c.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) | |
15 | g.100048862C>G | CA393692256 | ADAMTS17 | c.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) | |
15 | g.100048862C>T | CA492369913 | ADAMTS17 | c.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=) | |
15 | g.100048863T>A | CA393692259 | ADAMTS17 | c.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) | |
15 | g.100048863T>C | CA393692257 | ADAMTS17 | c.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 |
15 | g.100048863T>G | CA393692258 | ADAMTS17 | c.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) | |
15 | g.100048863T= | CA2199825558 | ADAMTS17 | c.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=) | |
15 | g.100048864G>A | CA393692260 | ADAMTS17 | c.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 |
15 | g.100048864G>C | CA393692261 | ADAMTS17 | c.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) | |
15 | g.100048864G>T | CA393692262 | ADAMTS17 | c.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) | |
15 | g.100048865G>A | CA492369914 | ADAMTS17 | c.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 |
15 | g.100048865G>C | CA393692263 | ADAMTS17 | c.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) | |
15 | g.100048865G>T | CA393692264 | ADAMTS17 | c.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) | |
15 | g.100048866C>A | CA393692265 | ADAMTS17 | c.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 |
15 | g.100048866C= | CA2199825559 | ADAMTS17 | c.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=) | |
15 | g.100048866C>G | CA393692266 | ADAMTS17 | c.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) | |
15 | g.100048866C>T | CA393692267 | ADAMTS17 | c.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) | |
15 | g.100048867A>C | CA393692268 | ADAMTS17 | c.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) | |
15 | g.100048867A>G | CA393692269 | ADAMTS17 | c.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) | |
15 | g.100048867A>T | CA393692270 | ADAMTS17 | c.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) | |
15 | g.100048868G>A | CA492369915 | ADAMTS17 | c.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 |
15 | g.100048868G>C | CA7757681 | ADAMTS17 | c.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 |
15 | g.100048868G= | CA2199825560 | ADAMTS17 | c.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=) | |
15 | g.100048868G>T | CA492369916 | ADAMTS17 | c.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=) | |
15 | g.100048871del | CA645593801 | ADAMTS17 | c.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 |
15 | g.100048869G>A | CA393692272 | ADAMTS17 | c.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 |
15 | g.100048869G>C | CA393692273 | ADAMTS17 | c.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) | |
15 | g.100048869G= | CA2199825561 | ADAMTS17 | c.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=) | |
15 | g.100048869G>T | CA393692271 | ADAMTS17 | c.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) | |
15 | g.100048870G>A | CA393692276 | ADAMTS17 | c.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 |
15 | g.100048870G>C | CA393692274 | ADAMTS17 | c.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) | |
15 | g.100048870G= | CA2199825562 | ADAMTS17 | c.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=) | |
15 | g.100048870G>T | CA393692275 | ADAMTS17 | c.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 |
15 | g.100048871G>A | CA492369917 | ADAMTS17 | c.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 |
15 | g.100048871G>C | CA393692277 | ADAMTS17 | c.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) | |
15 | g.100048871G= | CA2199825563 | ADAMTS17 | c.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=) | |
15 | g.100048871G>T | CA393692278 | ADAMTS17 | c.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) | |
15 | g.100048873_100048878del | CA2575845738 | ADAMTS17 | c.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) | |
15 | g.100048872T>A | CA393692279 | ADAMTS17 | c.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) | |
15 | g.100048872T>C | CA393692280 | ADAMTS17 | c.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 |
15 | g.100048872T>G | CA7757682 | ADAMTS17 | c.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 |
15 | g.100048872T= | CA2199825564 | ADAMTS17 | c.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=) | |
15 | g.100048873G>A | CA393692281 | ADAMTS17 | c.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 |
15 | g.100048873G>C | CA393692282 | ADAMTS17 | c.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 |
15 | g.100048873G>T | CA393692283 | ADAMTS17 | c.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 |
15 | g.100048874C>A | CA393692284 | ADAMTS17 | c.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) | |
15 | g.100048874C= | CA2199825565 | ADAMTS17 | c.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=) | |
15 | g.100048874C>G | CA393692285 | ADAMTS17 | c.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 |
15 | g.100048874C>T | CA492369918 | ADAMTS17 | c.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=) | |
15 | g.100048875A= | CA2199825566 | ADAMTS17 | c.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=) | |
15 | g.100048875A>C | CA393692288 | ADAMTS17 | c.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) | |
15 | g.100048875A>G | CA393692287 | ADAMTS17 | c.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 |
15 | g.100048875A>T | CA393692286 | ADAMTS17 | c.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) | |
15 | g.100048876A>C | CA393692289 | ADAMTS17 | c.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) | |
15 | g.100048876A>G | CA492369919 | ADAMTS17 | c.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=) | |
15 | g.100048876A>T | CA393692290 | ADAMTS17 | c.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) | |
15 | g.100048877G>A | CA492369920 | ADAMTS17 | c.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 |
15 | g.100048877G>C | CA393692291 | ADAMTS17 | c.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 |
15 | g.100048877G= | CA2199825567 | ADAMTS17 | c.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=) | |
15 | g.100048877G>T | CA393692292 | ADAMTS17 | c.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) | |
15 | g.100048878T>A | CA393692293 | ADAMTS17 | c.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) | |
15 | g.100048878T>C | CA393692295 | ADAMTS17 | c.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 |
15 | g.100048878T>G | CA7757683 | ADAMTS17 | c.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 |
15 | g.100048878T= | CA2199825568 | ADAMTS17 | c.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=) | |
15 | g.100048879T>A | CA393692299 | ADAMTS17 | c.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) | |
15 | g.100048879T>C | CA393692301 | ADAMTS17 | c.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) | |
15 | g.100048879T>G | CA7757684 | ADAMTS17 | c.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 |
15 | g.100048879T= | CA2199825569 | ADAMTS17 | c.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=) | |
15 | g.100048880G>A | CA7757685 | ADAMTS17 | c.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 |
15 | g.100048880G>C | CA393692305 | ADAMTS17 | c.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) | |
15 | g.100048880G= | CA2199825570 | ADAMTS17 | c.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=) | |
15 | g.100048880G>T | CA393692306 | ADAMTS17 | c.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) | |
15 | g.100048881C>A | CA393692312 | ADAMTS17 | c.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) | |
15 | g.100048881C>G | CA393692310 | ADAMTS17 | c.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) | |
15 | g.100048881C>T | CA393692308 | ADAMTS17 | c.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 |
15 | g.100048882A>C | CA393692317 | ADAMTS17 | c.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) | |
15 | g.100048882A>G | CA393692314 | ADAMTS17 | c.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) | |
15 | g.100048882A>T | CA393692316 | ADAMTS17 | c.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) | |
15 | g.100048883C>A | CA393692319 | ADAMTS17 | c.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) | |
15 | g.100048883C>G | CA393692321 | ADAMTS17 | c.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) | |
15 | g.100048883C>T | CA492369921 | ADAMTS17 | c.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 |
15 | g.100048884C>A | CA393692323 | ADAMTS17 | c.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) | |
15 | g.100048884C= | CA2199825571 | ADAMTS17 | c.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=) | |
15 | g.100048884C>G | CA393692324 | ADAMTS17 | c.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) | |
15 | g.100048884C>T | CA393692325 | ADAMTS17 | c.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 |
15 | g.100048885T>A | CA393692326 | ADAMTS17 | c.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) | |
15 | g.100048885T>C | CA393692328 | ADAMTS17 | c.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) | |
15 | g.100048885T>G | CA492369922 | ADAMTS17 | c.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=) | |
15 | g.100048886T>A | CA492369923 | ADAMTS17 | c.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=) | |
15 | g.100048886T>C | CA492369924 | ADAMTS17 | c.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=) | |
15 | g.100048886T>G | CA492369925 | ADAMTS17 | c.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=) | |
15 | g.100048887C>A | CA393692329 | ADAMTS17 | c.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) | |
15 | g.100048887C= | CA2199825572 | ADAMTS17 | c.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=) | |
15 | g.100048887C>G | CA393692331 | ADAMTS17 | c.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) | |
15 | g.100048887C>T | CA7757686 | ADAMTS17 | c.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 |
15 | g.100048888G>A | CA393692335 | ADAMTS17 | c.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 |
15 | g.100048888G>C | CA7757687 | ADAMTS17 | c.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 |
15 | g.100048888G= | CA2199825573 | ADAMTS17 | c.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=) | |
15 | g.100048888G>T | CA275472958 | ADAMTS17 | c.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 |
15 | g.100048889G>A | CA492369926 | ADAMTS17 | c.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 |
15 | g.100048889G>C | CA492369927 | ADAMTS17 | c.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=) | |
15 | g.100048889G= | CA2199825574 | ADAMTS17 | c.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=) | |
15 | g.100048889G>T | CA492369928 | ADAMTS17 | c.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 |
15 | g.100048890A>C | CA393692338 | ADAMTS17 | c.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) | |
15 | g.100048890A>G | CA393692340 | ADAMTS17 | c.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) | |
15 | g.100048890A>T | CA393692342 | ADAMTS17 | c.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) | |
15 | g.100048891C>A | CA393692344 | ADAMTS17 | c.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 |
15 | g.100048891C= | CA2199825575 | ADAMTS17 | c.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=) | |
15 | g.100048891C>G | CA393692346 | ADAMTS17 | c.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) | |
15 | g.100048891C>T | CA393692348 | ADAMTS17 | c.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 |
15 | g.100048892C>A | CA393692349 | ADAMTS17 | c.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) | |
15 | g.100048892C>G | CA393692351 | ADAMTS17 | c.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) | |
15 | g.100048892C>T | CA492369929 | ADAMTS17 | c.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 |
15 | g.100048893T>A | CA393692354 | ADAMTS17 | c.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) | |
15 | g.100048893T>C | CA393692356 | ADAMTS17 | c.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) | |
15 | g.100048893T>G | CA393692357 | ADAMTS17 | c.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) | |
15 | g.100048894G>A | CA393692360 | ADAMTS17 | c.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) | |
15 | g.100048894G>C | CA393692362 | ADAMTS17 | c.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) | |
15 | g.100048894G>T | CA393692363 | ADAMTS17 | c.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) | |
15 | g.100048895G>A | CA492369930 | ADAMTS17 | c.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=) | |
15 | g.100048895G>C | CA492369931 | ADAMTS17 | c.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=) | |
15 | g.100048895G>T | CA492369932 | ADAMTS17 | c.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=) |