| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70757942C>A | CA2609525874 | ADAMTS14 | c.2938-20C>A (n.2938-20C>A) c.2947-20C>A (n.2947-20C>A) c.2437-20C>A (n.2437-20C>A) c.2011-20C>A (n.2011-20C>A) c.*17-20C>A (n.*17-20C>A) c.1507-20C>A (n.1507-20C>A) | gnomAD v4 |
| 10 | g.70757942C= | CA1918399594 | ADAMTS14 | c.2938-20C= (n.2938-20C=) c.2947-20C= (n.2947-20C=) c.2437-20C= (n.2437-20C=) c.2011-20C= (n.2011-20C=) c.*17-20C= (n.*17-20C=) c.1507-20C= (n.1507-20C=) | |
| 10 | g.70757942C>T | CA594294167 | ADAMTS14 | c.2938-20C>T (n.2938-20C>T) c.2947-20C>T (n.2947-20C>T) c.2437-20C>T (n.2437-20C>T) c.2011-20C>T (n.2011-20C>T) c.*17-20C>T (n.*17-20C>T) c.1507-20C>T (n.1507-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757943A= | CA1918399595 | ADAMTS14 | c.2938-19A= (n.2938-19A=) c.2947-19A= (n.2947-19A=) c.2437-19A= (n.2437-19A=) c.2011-19A= (n.2011-19A=) c.*17-19A= (n.*17-19A=) c.1507-19A= (n.1507-19A=) | |
| 10 | g.70757943A>C | CA1918399596 | ADAMTS14 | c.2938-19A>C (n.2938-19A>C) c.2947-19A>C (n.2947-19A>C) c.2437-19A>C (n.2437-19A>C) c.2011-19A>C (n.2011-19A>C) c.*17-19A>C (n.*17-19A>C) c.1507-19A>C (n.1507-19A>C) | dbSNP |
| 10 | g.70757944C>A | CA2609525877 | ADAMTS14 | c.2938-18C>A (n.2938-18C>A) c.2947-18C>A (n.2947-18C>A) c.2437-18C>A (n.2437-18C>A) c.2011-18C>A (n.2011-18C>A) c.*17-18C>A (n.*17-18C>A) c.1507-18C>A (n.1507-18C>A) | gnomAD v4 |
| 10 | g.70757944C= | CA1918399597 | ADAMTS14 | c.2938-18C= (n.2938-18C=) c.2947-18C= (n.2947-18C=) c.2437-18C= (n.2437-18C=) c.2011-18C= (n.2011-18C=) c.*17-18C= (n.*17-18C=) c.1507-18C= (n.1507-18C=) | |
| 10 | g.70757944C>T | CA209415858 | ADAMTS14 | c.2938-18C>T (n.2938-18C>T) c.2947-18C>T (n.2947-18C>T) c.2437-18C>T (n.2437-18C>T) c.2011-18C>T (n.2011-18C>T) c.*17-18C>T (n.*17-18C>T) c.1507-18C>T (n.1507-18C>T) | dbSNP |
| 10 | g.70757945T>C | CA2609525878 | ADAMTS14 | c.2938-17T>C (n.2938-17T>C) c.2947-17T>C (n.2947-17T>C) c.2437-17T>C (n.2437-17T>C) c.2011-17T>C (n.2011-17T>C) c.*17-17T>C (n.*17-17T>C) c.1507-17T>C (n.1507-17T>C) | gnomAD v4 |
| 10 | g.70757946G>A | CA5540281 | ADAMTS14 | c.2938-16G>A (n.2938-16G>A) c.2947-16G>A (n.2947-16G>A) c.2437-16G>A (n.2437-16G>A) c.2011-16G>A (n.2011-16G>A) c.*17-16G>A (n.*17-16G>A) c.1507-16G>A (n.1507-16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757946G>C | CA2609525880 | ADAMTS14 | c.2938-16G>C (n.2938-16G>C) c.2947-16G>C (n.2947-16G>C) c.2437-16G>C (n.2437-16G>C) c.2011-16G>C (n.2011-16G>C) c.*17-16G>C (n.*17-16G>C) c.1507-16G>C (n.1507-16G>C) | gnomAD v4 |
| 10 | g.70757946G= | CA1918399598 | ADAMTS14 | c.2938-16G= (n.2938-16G=) c.2947-16G= (n.2947-16G=) c.2437-16G= (n.2437-16G=) c.2011-16G= (n.2011-16G=) c.*17-16G= (n.*17-16G=) c.1507-16G= (n.1507-16G=) | |
| 10 | g.70757946G>T | CA2609525881 | ADAMTS14 | c.2938-16G>T (n.2938-16G>T) c.2947-16G>T (n.2947-16G>T) c.2437-16G>T (n.2437-16G>T) c.2011-16G>T (n.2011-16G>T) c.*17-16G>T (n.*17-16G>T) c.1507-16G>T (n.1507-16G>T) | gnomAD v4 |
| 10 | g.70757947A= | CA1918399599 | ADAMTS14 | c.2938-15A= (n.2938-15A=) c.2947-15A= (n.2947-15A=) c.2437-15A= (n.2437-15A=) c.2011-15A= (n.2011-15A=) c.*17-15A= (n.*17-15A=) c.1507-15A= (n.1507-15A=) | |
| 10 | g.70757947A>C | CA1918399600 | ADAMTS14 | c.2938-15A>C (n.2938-15A>C) c.2947-15A>C (n.2947-15A>C) c.2437-15A>C (n.2437-15A>C) c.2011-15A>C (n.2011-15A>C) c.*17-15A>C (n.*17-15A>C) c.1507-15A>C (n.1507-15A>C) | dbSNP |
| 10 | g.70757947A>G | CA2609525884 | ADAMTS14 | c.2938-15A>G (n.2938-15A>G) c.2947-15A>G (n.2947-15A>G) c.2437-15A>G (n.2437-15A>G) c.2011-15A>G (n.2011-15A>G) c.*17-15A>G (n.*17-15A>G) c.1507-15A>G (n.1507-15A>G) | gnomAD v4 |
| 10 | g.70757948C>A | CA2609525888 | ADAMTS14 | c.2938-14C>A (n.2938-14C>A) c.2947-14C>A (n.2947-14C>A) c.2437-14C>A (n.2437-14C>A) c.2011-14C>A (n.2011-14C>A) c.*17-14C>A (n.*17-14C>A) c.1507-14C>A (n.1507-14C>A) | gnomAD v4 |
| 10 | g.70757950del | CA2609525887 | ADAMTS14 | c.2938-12del (n.2938-12del) c.2947-12del (n.2947-12del) c.2437-12del (n.2437-12del) c.2011-12del (n.2011-12del) c.*17-12del (n.*17-12del) c.1507-12del (n.1507-12del) | gnomAD v4 |
| 10 | g.70757949C>A | CA2609525890 | ADAMTS14 | c.2938-13C>A (n.2938-13C>A) c.2947-13C>A (n.2947-13C>A) c.2437-13C>A (n.2437-13C>A) c.2011-13C>A (n.2011-13C>A) c.*17-13C>A (n.*17-13C>A) c.1507-13C>A (n.1507-13C>A) | gnomAD v4 |
| 10 | g.70757949C>T | CA2609525889 | ADAMTS14 | c.2938-13C>T (n.2938-13C>T) c.2947-13C>T (n.2947-13C>T) c.2437-13C>T (n.2437-13C>T) c.2011-13C>T (n.2011-13C>T) c.*17-13C>T (n.*17-13C>T) c.1507-13C>T (n.1507-13C>T) | gnomAD v4 |
| 10 | g.70757950C>A | CA668030924 | ADAMTS14 | c.2938-12C>A (n.2938-12C>A) c.2947-12C>A (n.2947-12C>A) c.2437-12C>A (n.2437-12C>A) c.2011-12C>A (n.2011-12C>A) c.*17-12C>A (n.*17-12C>A) c.1507-12C>A (n.1507-12C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757950C= | CA1918399601 | ADAMTS14 | c.2938-12C= (n.2938-12C=) c.2947-12C= (n.2947-12C=) c.2437-12C= (n.2437-12C=) c.2011-12C= (n.2011-12C=) c.*17-12C= (n.*17-12C=) c.1507-12C= (n.1507-12C=) | |
| 10 | g.70757950C>G | CA209415866 | ADAMTS14 | c.2938-12C>G (n.2938-12C>G) c.2947-12C>G (n.2947-12C>G) c.2437-12C>G (n.2437-12C>G) c.2011-12C>G (n.2011-12C>G) c.*17-12C>G (n.*17-12C>G) c.1507-12C>G (n.1507-12C>G) | dbSNP |
| 10 | g.70757950C>T | CA209415872 | ADAMTS14 | c.2938-12C>T (n.2938-12C>T) c.2947-12C>T (n.2947-12C>T) c.2437-12C>T (n.2437-12C>T) c.2011-12C>T (n.2011-12C>T) c.*17-12C>T (n.*17-12C>T) c.1507-12C>T (n.1507-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757951A= | CA1918399602 | ADAMTS14 | c.2938-11A= (n.2938-11A=) c.2947-11A= (n.2947-11A=) c.2437-11A= (n.2437-11A=) c.2011-11A= (n.2011-11A=) c.*17-11A= (n.*17-11A=) c.1507-11A= (n.1507-11A=) | |
| 10 | g.70757951A>C | CA5540282 | ADAMTS14 | c.2938-11A>C (n.2938-11A>C) c.2947-11A>C (n.2947-11A>C) c.2437-11A>C (n.2437-11A>C) c.2011-11A>C (n.2011-11A>C) c.*17-11A>C (n.*17-11A>C) c.1507-11A>C (n.1507-11A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757951A>G | CA2574572649 | ADAMTS14 | c.2938-11A>G (n.2938-11A>G) c.2947-11A>G (n.2947-11A>G) c.2437-11A>G (n.2437-11A>G) c.2011-11A>G (n.2011-11A>G) c.*17-11A>G (n.*17-11A>G) c.1507-11A>G (n.1507-11A>G) | gnomAD v4 |
| 10 | g.70757952C>A | CA2609525895 | ADAMTS14 | c.2938-10C>A (n.2938-10C>A) c.2947-10C>A (n.2947-10C>A) c.2437-10C>A (n.2437-10C>A) c.2011-10C>A (n.2011-10C>A) c.*17-10C>A (n.*17-10C>A) c.1507-10C>A (n.1507-10C>A) | gnomAD v4 |
| 10 | g.70757953C>A | CA2609525896 | ADAMTS14 | c.2938-9C>A (n.2938-9C>A) c.2947-9C>A (n.2947-9C>A) c.2437-9C>A (n.2437-9C>A) c.2011-9C>A (n.2011-9C>A) c.*17-9C>A (n.*17-9C>A) c.1507-9C>A (n.1507-9C>A) | gnomAD v4 |
| 10 | g.70757953C= | CA1918399603 | ADAMTS14 | c.2938-9C= (n.2938-9C=) c.2947-9C= (n.2947-9C=) c.2437-9C= (n.2437-9C=) c.2011-9C= (n.2011-9C=) c.*17-9C= (n.*17-9C=) c.1507-9C= (n.1507-9C=) | |
| 10 | g.70757953C>T | CA5540283 | ADAMTS14 | c.2938-9C>T (n.2938-9C>T) c.2947-9C>T (n.2947-9C>T) c.2437-9C>T (n.2437-9C>T) c.2011-9C>T (n.2011-9C>T) c.*17-9C>T (n.*17-9C>T) c.1507-9C>T (n.1507-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757954C>A | CA2588843416 | ADAMTS14 | c.2938-8C>A (n.2938-8C>A) c.2947-8C>A (n.2947-8C>A) c.2437-8C>A (n.2437-8C>A) c.2011-8C>A (n.2011-8C>A) c.*17-8C>A (n.*17-8C>A) c.1507-8C>A (n.1507-8C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757956C= | CA1918399604 | ADAMTS14 | c.2938-6C= (n.2938-6C=) c.2947-6C= (n.2947-6C=) c.2437-6C= (n.2437-6C=) c.2011-6C= (n.2011-6C=) c.*17-6C= (n.*17-6C=) c.1507-6C= (n.1507-6C=) | |
| 10 | g.70757956C>T | CA5540284 | ADAMTS14 | c.2938-6C>T (n.2938-6C>T) c.2947-6C>T (n.2947-6C>T) c.2437-6C>T (n.2437-6C>T) c.2011-6C>T (n.2011-6C>T) c.*17-6C>T (n.*17-6C>T) c.1507-6C>T (n.1507-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757957G>A | CA5540285 | ADAMTS14 | c.2938-5G>A (n.2938-5G>A) c.2947-5G>A (n.2947-5G>A) c.2437-5G>A (n.2437-5G>A) c.2011-5G>A (n.2011-5G>A) c.*17-5G>A (n.*17-5G>A) c.1507-5G>A (n.1507-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757957G>C | CA5540286 | ADAMTS14 | c.2938-5G>C (n.2938-5G>C) c.2947-5G>C (n.2947-5G>C) c.2437-5G>C (n.2437-5G>C) c.2011-5G>C (n.2011-5G>C) c.*17-5G>C (n.*17-5G>C) c.1507-5G>C (n.1507-5G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757957G= | CA1918399605 | ADAMTS14 | c.2938-5G= (n.2938-5G=) c.2947-5G= (n.2947-5G=) c.2437-5G= (n.2437-5G=) c.2011-5G= (n.2011-5G=) c.*17-5G= (n.*17-5G=) c.1507-5G= (n.1507-5G=) | |
| 10 | g.70757958G>A | CA5540287 | ADAMTS14 | c.2938-4G>A (n.2938-4G>A) c.2947-4G>A (n.2947-4G>A) c.2437-4G>A (n.2437-4G>A) c.2011-4G>A (n.2011-4G>A) c.*17-4G>A (n.*17-4G>A) c.1507-4G>A (n.1507-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757958G= | CA1918399606 | ADAMTS14 | c.2938-4G= (n.2938-4G=) c.2947-4G= (n.2947-4G=) c.2437-4G= (n.2437-4G=) c.2011-4G= (n.2011-4G=) c.*17-4G= (n.*17-4G=) c.1507-4G= (n.1507-4G=) | |
| 10 | g.70757958G>T | CA2609525904 | ADAMTS14 | c.2938-4G>T (n.2938-4G>T) c.2947-4G>T (n.2947-4G>T) c.2437-4G>T (n.2437-4G>T) c.2011-4G>T (n.2011-4G>T) c.*17-4G>T (n.*17-4G>T) c.1507-4G>T (n.1507-4G>T) | gnomAD v4 |
| 10 | g.70757959C>A | CA2609525907 | ADAMTS14 | c.2938-3C>A (n.2938-3C>A) c.2947-3C>A (n.2947-3C>A) c.2437-3C>A (n.2437-3C>A) c.2011-3C>A (n.2011-3C>A) c.*17-3C>A (n.*17-3C>A) c.1507-3C>A (n.1507-3C>A) | gnomAD v4 |
| 10 | g.70757959C>T | CA2609525908 | ADAMTS14 | c.2938-3C>T (n.2938-3C>T) c.2947-3C>T (n.2947-3C>T) c.2437-3C>T (n.2437-3C>T) c.2011-3C>T (n.2011-3C>T) c.*17-3C>T (n.*17-3C>T) c.1507-3C>T (n.1507-3C>T) | dbSNP gnomAD v4 |
| 10 | g.70757960A>C | CA377108764 | ADAMTS14 | c.2938-2A>C (n.2938-2A>C) c.2947-2A>C (n.2947-2A>C) c.2437-2A>C (n.2437-2A>C) c.2011-2A>C (n.2011-2A>C) c.*17-2A>C (n.*17-2A>C) c.1507-2A>C (n.1507-2A>C) | |
| 10 | g.70757960A>G | CA377108765 | ADAMTS14 | c.2938-2A>G (n.2938-2A>G) c.2947-2A>G (n.2947-2A>G) c.2437-2A>G (n.2437-2A>G) c.2011-2A>G (n.2011-2A>G) c.*17-2A>G (n.*17-2A>G) c.1507-2A>G (n.1507-2A>G) | |
| 10 | g.70757960A>T | CA377108766 | ADAMTS14 | c.2938-2A>T (n.2938-2A>T) c.2947-2A>T (n.2947-2A>T) c.2437-2A>T (n.2437-2A>T) c.2011-2A>T (n.2011-2A>T) c.*17-2A>T (n.*17-2A>T) c.1507-2A>T (n.1507-2A>T) | |
| 10 | g.70757961G>A | CA377108767 | ADAMTS14 | c.2938-1G>A (n.2938-1G>A) c.2947-1G>A (n.2947-1G>A) c.2437-1G>A (n.2437-1G>A) c.2011-1G>A (n.2011-1G>A) c.*17-1G>A (n.*17-1G>A) c.1507-1G>A (n.1507-1G>A) | |
| 10 | g.70757961G>C | CA377108768 | ADAMTS14 | c.2938-1G>C (n.2938-1G>C) c.2947-1G>C (n.2947-1G>C) c.2437-1G>C (n.2437-1G>C) c.2011-1G>C (n.2011-1G>C) c.*17-1G>C (n.*17-1G>C) c.1507-1G>C (n.1507-1G>C) | dbSNP gnomAD v4 |
| 10 | g.70757961G= | CA1918399607 | ADAMTS14 | c.2938-1G= (n.2938-1G=) c.2947-1G= (n.2947-1G=) c.2437-1G= (n.2437-1G=) c.2011-1G= (n.2011-1G=) c.*17-1G= (n.*17-1G=) c.1507-1G= (n.1507-1G=) | |
| 10 | g.70757961G>T | CA377108769 | ADAMTS14 | c.2938-1G>T (n.2938-1G>T) c.2947-1G>T (n.2947-1G>T) c.2437-1G>T (n.2437-1G>T) c.2011-1G>T (n.2011-1G>T) c.*17-1G>T (n.*17-1G>T) c.1507-1G>T (n.1507-1G>T) | |
| 10 | g.70757962T>A | CA377108772 | ADAMTS14 | c.2938T>A (p.Cys980Ser) c.2947T>A (p.Cys983Ser) c.2437T>A (p.Cys813Ser) c.2011T>A (p.Cys671Ser) c.*17T>A (n.*17T>A) c.1507T>A (p.Cys503Ser) | |
| 10 | g.70757962T>C | CA377108771 | ADAMTS14 | c.2938T>C (p.Cys980Arg) c.2947T>C (p.Cys983Arg) c.2437T>C (p.Cys813Arg) c.2011T>C (p.Cys671Arg) c.*17T>C (n.*17T>C) c.1507T>C (p.Cys503Arg) | |
| 10 | g.70757962T>G | CA377108770 | ADAMTS14 | c.2938T>G (p.Cys980Gly) c.2947T>G (p.Cys983Gly) c.2437T>G (p.Cys813Gly) c.2011T>G (p.Cys671Gly) c.*17T>G (n.*17T>G) c.1507T>G (p.Cys503Gly) | |
| 10 | g.70757963G>A | CA377108773 | ADAMTS14 | c.2939G>A (p.Cys980Tyr) c.2948G>A (p.Cys983Tyr) c.2438G>A (p.Cys813Tyr) c.2012G>A (p.Cys671Tyr) c.*18G>A (n.*18G>A) c.1508G>A (p.Cys503Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757963G>C | CA377108775 | ADAMTS14 | c.2939G>C (p.Cys980Ser) c.2948G>C (p.Cys983Ser) c.2438G>C (p.Cys813Ser) c.2012G>C (p.Cys671Ser) c.*18G>C (n.*18G>C) c.1508G>C (p.Cys503Ser) | |
| 10 | g.70757963G= | CA1918399608 | ADAMTS14 | c.2939G= (p.Cys980=) c.2948G= (p.Cys983=) c.2438G= (p.Cys813=) c.2012G= (p.Cys671=) c.*18G= (n.*18G=) c.1508G= (p.Cys503=) | |
| 10 | g.70757963G>T | CA377108774 | ADAMTS14 | c.2939G>T (p.Cys980Phe) c.2948G>T (p.Cys983Phe) c.2438G>T (p.Cys813Phe) c.2012G>T (p.Cys671Phe) c.*18G>T (n.*18G>T) c.1508G>T (p.Cys503Phe) | |
| 10 | g.70757964C>A | CA377108776 | ADAMTS14 | c.2940C>A (p.Cys980Ter) c.2949C>A (p.Cys983Ter) c.2439C>A (p.Cys813Ter) c.2013C>A (p.Cys671Ter) c.*19C>A (n.*19C>A) c.1509C>A (p.Cys503Ter) | gnomAD v4 COSMIC |
| 10 | g.70757964C= | CA1918399609 | ADAMTS14 | c.2940C= (p.Cys980=) c.2949C= (p.Cys983=) c.2439C= (p.Cys813=) c.2013C= (p.Cys671=) c.*19C= (n.*19C=) c.1509C= (p.Cys503=) | |
| 10 | g.70757964C>G | CA5540288 | ADAMTS14 | c.2940C>G (p.Cys980Trp) c.2949C>G (p.Cys983Trp) c.2439C>G (p.Cys813Trp) c.2013C>G (p.Cys671Trp) c.*19C>G (n.*19C>G) c.1509C>G (p.Cys503Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757964C>T | CA209415908 | ADAMTS14 | c.2940C>T (p.Cys980=) c.2949C>T (p.Cys983=) c.2439C>T (p.Cys813=) c.2013C>T (p.Cys671=) c.*19C>T (n.*19C>T) c.1509C>T (p.Cys503=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757965T>A | CA377108777 | ADAMTS14 | c.2941T>A (p.Ser981Thr) c.2950T>A (p.Ser984Thr) c.2440T>A (p.Ser814Thr) c.2014T>A (p.Ser672Thr) c.*20T>A (n.*20T>A) c.1510T>A (p.Ser504Thr) | dbSNP |
| 10 | g.70757965T>C | CA377108778 | ADAMTS14 | c.2941T>C (p.Ser981Pro) c.2950T>C (p.Ser984Pro) c.2440T>C (p.Ser814Pro) c.2014T>C (p.Ser672Pro) c.*20T>C (n.*20T>C) c.1510T>C (p.Ser504Pro) | |
| 10 | g.70757965T>G | CA377108779 | ADAMTS14 | c.2941T>G (p.Ser981Ala) c.2950T>G (p.Ser984Ala) c.2440T>G (p.Ser814Ala) c.2014T>G (p.Ser672Ala) c.*20T>G (n.*20T>G) c.1510T>G (p.Ser504Ala) | |
| 10 | g.70757965T= | CA1918399610 | ADAMTS14 | c.2941T= (p.Ser981=) c.2950T= (p.Ser984=) c.2440T= (p.Ser814=) c.2014T= (p.Ser672=) c.*20T= (n.*20T=) c.1510T= (p.Ser504=) | |
| 10 | g.70757966C>A | CA377108780 | ADAMTS14 | c.2942C>A (p.Ser981Tyr) c.2951C>A (p.Ser984Tyr) c.2441C>A (p.Ser814Tyr) c.2015C>A (p.Ser672Tyr) c.*21C>A (n.*21C>A) c.1511C>A (p.Ser504Tyr) | gnomAD v4 |
| 10 | g.70757966C>G | CA377108781 | ADAMTS14 | c.2942C>G (p.Ser981Cys) c.2951C>G (p.Ser984Cys) c.2441C>G (p.Ser814Cys) c.2015C>G (p.Ser672Cys) c.*21C>G (n.*21C>G) c.1511C>G (p.Ser504Cys) | |
| 10 | g.70757966C>T | CA377108782 | ADAMTS14 | c.2942C>T (p.Ser981Phe) c.2951C>T (p.Ser984Phe) c.2441C>T (p.Ser814Phe) c.2015C>T (p.Ser672Phe) c.*21C>T (n.*21C>T) c.1511C>T (p.Ser504Phe) | |
| 10 | g.70757967T>A | CA470056155 | ADAMTS14 | c.2943T>A (p.Ser981=) c.2952T>A (p.Ser984=) c.2442T>A (p.Ser814=) c.2016T>A (p.Ser672=) c.*22T>A (n.*22T>A) c.1512T>A (p.Ser504=) | |
| 10 | g.70757967T>C | CA470056156 | ADAMTS14 | c.2943T>C (p.Ser981=) c.2952T>C (p.Ser984=) c.2442T>C (p.Ser814=) c.2016T>C (p.Ser672=) c.*22T>C (n.*22T>C) c.1512T>C (p.Ser504=) | gnomAD v4 |
| 10 | g.70757967T>G | CA470056158 | ADAMTS14 | c.2943T>G (p.Ser981=) c.2952T>G (p.Ser984=) c.2442T>G (p.Ser814=) c.2016T>G (p.Ser672=) c.*22T>G (n.*22T>G) c.1512T>G (p.Ser504=) | |
| 10 | g.70757968G>A | CA377108785 | ADAMTS14 | c.2944G>A (p.Ala982Thr) c.2953G>A (p.Ala985Thr) c.2443G>A (p.Ala815Thr) c.2017G>A (p.Ala673Thr) c.*23G>A (n.*23G>A) c.1513G>A (p.Ala505Thr) | gnomAD v4 |
| 10 | g.70757968G>C | CA377108784 | ADAMTS14 | c.2944G>C (p.Ala982Pro) c.2953G>C (p.Ala985Pro) c.2443G>C (p.Ala815Pro) c.2017G>C (p.Ala673Pro) c.*23G>C (n.*23G>C) c.1513G>C (p.Ala505Pro) | |
| 10 | g.70757968G= | CA1918399611 | ADAMTS14 | c.2944G= (p.Ala982=) c.2953G= (p.Ala985=) c.2443G= (p.Ala815=) c.2017G= (p.Ala673=) c.*23G= (n.*23G=) c.1513G= (p.Ala505=) | |
| 10 | g.70757968G>T | CA377108783 | ADAMTS14 | c.2944G>T (p.Ala982Ser) c.2953G>T (p.Ala985Ser) c.2443G>T (p.Ala815Ser) c.2017G>T (p.Ala673Ser) c.*23G>T (n.*23G>T) c.1513G>T (p.Ala505Ser) | dbSNP gnomAD v2 |
| 10 | g.70757969C>A | CA377108786 | ADAMTS14 | c.2945C>A (p.Ala982Asp) c.2954C>A (p.Ala985Asp) c.2444C>A (p.Ala815Asp) c.2018C>A (p.Ala673Asp) c.*24C>A (n.*24C>A) c.1514C>A (p.Ala505Asp) | gnomAD v4 |
| 10 | g.70757969C= | CA1918399612 | ADAMTS14 | c.2945C= (p.Ala982=) c.2954C= (p.Ala985=) c.2444C= (p.Ala815=) c.2018C= (p.Ala673=) c.*24C= (n.*24C=) c.1514C= (p.Ala505=) | |
| 10 | g.70757969C>G | CA377108787 | ADAMTS14 | c.2945C>G (p.Ala982Gly) c.2954C>G (p.Ala985Gly) c.2444C>G (p.Ala815Gly) c.2018C>G (p.Ala673Gly) c.*24C>G (n.*24C>G) c.1514C>G (p.Ala505Gly) | |
| 10 | g.70757969C>T | CA377108788 | ADAMTS14 | c.2945C>T (p.Ala982Val) c.2954C>T (p.Ala985Val) c.2444C>T (p.Ala815Val) c.2018C>T (p.Ala673Val) c.*24C>T (n.*24C>T) c.1514C>T (p.Ala505Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757970C>A | CA470056164 | ADAMTS14 | c.2946C>A (p.Ala982=) c.2955C>A (p.Ala985=) c.2445C>A (p.Ala815=) c.2019C>A (p.Ala673=) c.*25C>A (n.*25C>A) c.1515C>A (p.Ala505=) | gnomAD v4 |
| 10 | g.70757970C= | CA1918399613 | ADAMTS14 | c.2946C= (p.Ala982=) c.2955C= (p.Ala985=) c.2445C= (p.Ala815=) c.2019C= (p.Ala673=) c.*25C= (n.*25C=) c.1515C= (p.Ala505=) | |
| 10 | g.70757970C>G | CA470056163 | ADAMTS14 | c.2946C>G (p.Ala982=) c.2955C>G (p.Ala985=) c.2445C>G (p.Ala815=) c.2019C>G (p.Ala673=) c.*25C>G (n.*25C>G) c.1515C>G (p.Ala505=) | |
| 10 | g.70757970C>T | CA470056161 | ADAMTS14 | c.2946C>T (p.Ala982=) c.2955C>T (p.Ala985=) c.2445C>T (p.Ala815=) c.2019C>T (p.Ala673=) c.*25C>T (n.*25C>T) c.1515C>T (p.Ala505=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757971A= | CA1918399614 | ADAMTS14 | c.2947A= (p.Thr983=) c.2956A= (p.Thr986=) c.2446A= (p.Thr816=) c.2020A= (p.Thr674=) c.*26A= (n.*26A=) c.1516A= (p.Thr506=) | |
| 10 | g.70757971A>C | CA377108789 | ADAMTS14 | c.2947A>C (p.Thr983Pro) c.2956A>C (p.Thr986Pro) c.2446A>C (p.Thr816Pro) c.2020A>C (p.Thr674Pro) c.*26A>C (n.*26A>C) c.1516A>C (p.Thr506Pro) | |
| 10 | g.70757971A>G | CA5540289 | ADAMTS14 | c.2947A>G (p.Thr983Ala) c.2956A>G (p.Thr986Ala) c.2446A>G (p.Thr816Ala) c.2020A>G (p.Thr674Ala) c.*26A>G (n.*26A>G) c.1516A>G (p.Thr506Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757971A>T | CA377108790 | ADAMTS14 | c.2947A>T (p.Thr983Ser) c.2956A>T (p.Thr986Ser) c.2446A>T (p.Thr816Ser) c.2020A>T (p.Thr674Ser) c.*26A>T (n.*26A>T) c.1516A>T (p.Thr506Ser) | |
| 10 | g.70757972C>A | CA377108791 | ADAMTS14 | c.2948C>A (p.Thr983Asn) c.2957C>A (p.Thr986Asn) c.2447C>A (p.Thr816Asn) c.2021C>A (p.Thr674Asn) c.*27C>A (n.*27C>A) c.1517C>A (p.Thr506Asn) | gnomAD v4 |
| 10 | g.70757972C>G | CA377108793 | ADAMTS14 | c.2948C>G (p.Thr983Ser) c.2957C>G (p.Thr986Ser) c.2447C>G (p.Thr816Ser) c.2021C>G (p.Thr674Ser) c.*27C>G (n.*27C>G) c.1517C>G (p.Thr506Ser) | gnomAD v4 |
| 10 | g.70757972C>T | CA377108792 | ADAMTS14 | c.2948C>T (p.Thr983Ile) c.2957C>T (p.Thr986Ile) c.2447C>T (p.Thr816Ile) c.2021C>T (p.Thr674Ile) c.*27C>T (n.*27C>T) c.1517C>T (p.Thr506Ile) | gnomAD v4 |
| 10 | g.70757973C>A | CA470056167 | ADAMTS14 | c.2949C>A (p.Thr983=) c.2958C>A (p.Thr986=) c.2448C>A (p.Thr816=) c.2022C>A (p.Thr674=) c.*28C>A (n.*28C>A) c.1518C>A (p.Thr506=) | |
| 10 | g.70757973C>G | CA470056168 | ADAMTS14 | c.2949C>G (p.Thr983=) c.2958C>G (p.Thr986=) c.2448C>G (p.Thr816=) c.2022C>G (p.Thr674=) c.*28C>G (n.*28C>G) c.1518C>G (p.Thr506=) | |
| 10 | g.70757973C>T | CA470056170 | ADAMTS14 | c.2949C>T (p.Thr983=) c.2958C>T (p.Thr986=) c.2448C>T (p.Thr816=) c.2022C>T (p.Thr674=) c.*28C>T (n.*28C>T) c.1518C>T (p.Thr506=) | gnomAD v4 |
| 10 | g.70757974T>A | CA377108794 | ADAMTS14 | c.2950T>A (p.Cys984Ser) c.2959T>A (p.Cys987Ser) c.2449T>A (p.Cys817Ser) c.2023T>A (p.Cys675Ser) c.*29T>A (n.*29T>A) c.1519T>A (p.Cys507Ser) | |
| 10 | g.70757974T>C | CA377108795 | ADAMTS14 | c.2950T>C (p.Cys984Arg) c.2959T>C (p.Cys987Arg) c.2449T>C (p.Cys817Arg) c.2023T>C (p.Cys675Arg) c.*29T>C (n.*29T>C) c.1519T>C (p.Cys507Arg) | |
| 10 | g.70757974T>G | CA377108796 | ADAMTS14 | c.2950T>G (p.Cys984Gly) c.2959T>G (p.Cys987Gly) c.2449T>G (p.Cys817Gly) c.2023T>G (p.Cys675Gly) c.*29T>G (n.*29T>G) c.1519T>G (p.Cys507Gly) | |
| 10 | g.70757975G>A | CA377108797 | ADAMTS14 | c.2951G>A (p.Cys984Tyr) c.2960G>A (p.Cys987Tyr) c.2450G>A (p.Cys817Tyr) c.2024G>A (p.Cys675Tyr) c.*30G>A (n.*30G>A) c.1520G>A (p.Cys507Tyr) | gnomAD v4 |
| 10 | g.70757975G>C | CA377108798 | ADAMTS14 | c.2951G>C (p.Cys984Ser) c.2960G>C (p.Cys987Ser) c.2450G>C (p.Cys817Ser) c.2024G>C (p.Cys675Ser) c.*30G>C (n.*30G>C) c.1520G>C (p.Cys507Ser) | |
| 10 | g.70757975G>T | CA377108799 | ADAMTS14 | c.2951G>T (p.Cys984Phe) c.2960G>T (p.Cys987Phe) c.2450G>T (p.Cys817Phe) c.2024G>T (p.Cys675Phe) c.*30G>T (n.*30G>T) c.1520G>T (p.Cys507Phe) | |
| 10 | g.70757976T>A | CA377108800 | ADAMTS14 | c.2952T>A (p.Cys984Ter) c.2961T>A (p.Cys987Ter) c.2451T>A (p.Cys817Ter) c.2025T>A (p.Cys675Ter) c.*31T>A (n.*31T>A) c.1521T>A (p.Cys507Ter) | |
| 10 | g.70757976T>C | CA470056173 | ADAMTS14 | c.2952T>C (p.Cys984=) c.2961T>C (p.Cys987=) c.2451T>C (p.Cys817=) c.2025T>C (p.Cys675=) c.*31T>C (n.*31T>C) c.1521T>C (p.Cys507=) | |
| 10 | g.70757976T>G | CA377108801 | ADAMTS14 | c.2952T>G (p.Cys984Trp) c.2961T>G (p.Cys987Trp) c.2451T>G (p.Cys817Trp) c.2025T>G (p.Cys675Trp) c.*31T>G (n.*31T>G) c.1521T>G (p.Cys507Trp) | |
| 10 | g.70757977G>A | CA377108802 | ADAMTS14 | c.2953G>A (p.Gly985Arg) c.2962G>A (p.Gly988Arg) c.2452G>A (p.Gly818Arg) c.2026G>A (p.Gly676Arg) c.*32G>A (n.*32G>A) c.1522G>A (p.Gly508Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757977G>C | CA377108803 | ADAMTS14 | c.2953G>C (p.Gly985Arg) c.2962G>C (p.Gly988Arg) c.2452G>C (p.Gly818Arg) c.2026G>C (p.Gly676Arg) c.*32G>C (n.*32G>C) c.1522G>C (p.Gly508Arg) | |
| 10 | g.70757977G= | CA1918399615 | ADAMTS14 | c.2953G= (p.Gly985=) c.2962G= (p.Gly988=) c.2452G= (p.Gly818=) c.2026G= (p.Gly676=) c.*32G= (n.*32G=) c.1522G= (p.Gly508=) | |
| 10 | g.70757977G>T | CA377108804 | ADAMTS14 | c.2953G>T (p.Gly985Ter) c.2962G>T (p.Gly988Ter) c.2452G>T (p.Gly818Ter) c.2026G>T (p.Gly676Ter) c.*32G>T (n.*32G>T) c.1522G>T (p.Gly508Ter) | |
| 10 | g.70757978G>A | CA377108805 | ADAMTS14 | c.2954G>A (p.Gly985Glu) c.2963G>A (p.Gly988Glu) c.2453G>A (p.Gly818Glu) c.2027G>A (p.Gly676Glu) c.*33G>A (n.*33G>A) c.1523G>A (p.Gly508Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.70757978G>C | CA377108807 | ADAMTS14 | c.2954G>C (p.Gly985Ala) c.2963G>C (p.Gly988Ala) c.2453G>C (p.Gly818Ala) c.2027G>C (p.Gly676Ala) c.*33G>C (n.*33G>C) c.1523G>C (p.Gly508Ala) | |
| 10 | g.70757978G= | CA1918399616 | ADAMTS14 | c.2954G= (p.Gly985=) c.2963G= (p.Gly988=) c.2453G= (p.Gly818=) c.2027G= (p.Gly676=) c.*33G= (n.*33G=) c.1523G= (p.Gly508=) | |
| 10 | g.70757978G>T | CA377108806 | ADAMTS14 | c.2954G>T (p.Gly985Val) c.2963G>T (p.Gly988Val) c.2453G>T (p.Gly818Val) c.2027G>T (p.Gly676Val) c.*33G>T (n.*33G>T) c.1523G>T (p.Gly508Val) | |
| 10 | g.70757979del | CA2609525942 | ADAMTS14 | c.2955del (p.Glu986ArgfsTer?) c.2964del (p.Glu989ArgfsTer?) c.2454del (p.Glu819ArgfsTer?) c.2028del (p.Glu677ArgfsTer?) c.*34del (n.*34del) c.1524del (p.Glu509ArgfsTer?) | gnomAD v4 |
| 10 | g.70757979A= | CA1918399617 | ADAMTS14 | c.2955A= (p.Gly985=) c.2964A= (p.Gly988=) c.2454A= (p.Gly818=) c.2028A= (p.Gly676=) c.*34A= (n.*34A=) c.1524A= (p.Gly508=) | |
| 10 | g.70757979A>C | CA470056175 | ADAMTS14 | c.2955A>C (p.Gly985=) c.2964A>C (p.Gly988=) c.2454A>C (p.Gly818=) c.2028A>C (p.Gly676=) c.*34A>C (n.*34A>C) c.1524A>C (p.Gly508=) | |
| 10 | g.70757979A>G | CA470056176 | ADAMTS14 | c.2955A>G (p.Gly985=) c.2964A>G (p.Gly988=) c.2454A>G (p.Gly818=) c.2028A>G (p.Gly676=) c.*34A>G (n.*34A>G) c.1524A>G (p.Gly508=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757979A>T | CA470056177 | ADAMTS14 | c.2955A>T (p.Gly985=) c.2964A>T (p.Gly988=) c.2454A>T (p.Gly818=) c.2028A>T (p.Gly676=) c.*34A>T (n.*34A>T) c.1524A>T (p.Gly508=) | |
| 10 | g.70757980G>A | CA5540290 | ADAMTS14 | c.2956G>A (p.Glu986Lys) c.2965G>A (p.Glu989Lys) c.2455G>A (p.Glu819Lys) c.2029G>A (p.Glu677Lys) c.*35G>A (n.*35G>A) c.1525G>A (p.Glu509Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757980G>C | CA377108808 | ADAMTS14 | c.2956G>C (p.Glu986Gln) c.2965G>C (p.Glu989Gln) c.2455G>C (p.Glu819Gln) c.2029G>C (p.Glu677Gln) c.*35G>C (n.*35G>C) c.1525G>C (p.Glu509Gln) | |
| 10 | g.70757980G= | CA1918399618 | ADAMTS14 | c.2956G= (p.Glu986=) c.2965G= (p.Glu989=) c.2455G= (p.Glu819=) c.2029G= (p.Glu677=) c.*35G= (n.*35G=) c.1525G= (p.Glu509=) | |
| 10 | g.70757980G>T | CA377108809 | ADAMTS14 | c.2956G>T (p.Glu986Ter) c.2965G>T (p.Glu989Ter) c.2455G>T (p.Glu819Ter) c.2029G>T (p.Glu677Ter) c.*35G>T (n.*35G>T) c.1525G>T (p.Glu509Ter) | |
| 10 | g.70757981A>C | CA377108810 | ADAMTS14 | c.2957A>C (p.Glu986Ala) c.2966A>C (p.Glu989Ala) c.2456A>C (p.Glu819Ala) c.2030A>C (p.Glu677Ala) c.*36A>C (n.*36A>C) c.1526A>C (p.Glu509Ala) | |
| 10 | g.70757981A>G | CA377108811 | ADAMTS14 | c.2957A>G (p.Glu986Gly) c.2966A>G (p.Glu989Gly) c.2456A>G (p.Glu819Gly) c.2030A>G (p.Glu677Gly) c.*36A>G (n.*36A>G) c.1526A>G (p.Glu509Gly) | |
| 10 | g.70757981A>T | CA377108812 | ADAMTS14 | c.2957A>T (p.Glu986Val) c.2966A>T (p.Glu989Val) c.2456A>T (p.Glu819Val) c.2030A>T (p.Glu677Val) c.*36A>T (n.*36A>T) c.1526A>T (p.Glu509Val) | |
| 10 | g.70757982G>A | CA470056178 | ADAMTS14 | c.2958G>A (p.Glu986=) c.2967G>A (p.Glu989=) c.2457G>A (p.Glu819=) c.2031G>A (p.Glu677=) c.*37G>A (n.*37G>A) c.1527G>A (p.Glu509=) | gnomAD v4 |
| 10 | g.70757982G>C | CA377108813 | ADAMTS14 | c.2958G>C (p.Glu986Asp) c.2967G>C (p.Glu989Asp) c.2457G>C (p.Glu819Asp) c.2031G>C (p.Glu677Asp) c.*37G>C (n.*37G>C) c.1527G>C (p.Glu509Asp) | |
| 10 | g.70757982G>T | CA377108814 | ADAMTS14 | c.2958G>T (p.Glu986Asp) c.2967G>T (p.Glu989Asp) c.2457G>T (p.Glu819Asp) c.2031G>T (p.Glu677Asp) c.*37G>T (n.*37G>T) c.1527G>T (p.Glu509Asp) | |
| 10 | g.70757983G>A | CA377108815 | ADAMTS14 | c.2959G>A (p.Gly987Ser) c.2968G>A (p.Gly990Ser) c.2458G>A (p.Gly820Ser) c.2032G>A (p.Gly678Ser) c.*38G>A (n.*38G>A) c.1528G>A (p.Gly510Ser) | |
| 10 | g.70757983G>C | CA377108816 | ADAMTS14 | c.2959G>C (p.Gly987Arg) c.2968G>C (p.Gly990Arg) c.2458G>C (p.Gly820Arg) c.2032G>C (p.Gly678Arg) c.*38G>C (n.*38G>C) c.1528G>C (p.Gly510Arg) | gnomAD v4 |
| 10 | g.70757983G>T | CA377108817 | ADAMTS14 | c.2959G>T (p.Gly987Cys) c.2968G>T (p.Gly990Cys) c.2458G>T (p.Gly820Cys) c.2032G>T (p.Gly678Cys) c.*38G>T (n.*38G>T) c.1528G>T (p.Gly510Cys) | |
| 10 | g.70757984G>A | CA377108820 | ADAMTS14 | c.2960G>A (p.Gly987Asp) c.2969G>A (p.Gly990Asp) c.2459G>A (p.Gly820Asp) c.2033G>A (p.Gly678Asp) c.*39G>A (n.*39G>A) c.1529G>A (p.Gly510Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757984G>C | CA377108819 | ADAMTS14 | c.2960G>C (p.Gly987Ala) c.2969G>C (p.Gly990Ala) c.2459G>C (p.Gly820Ala) c.2033G>C (p.Gly678Ala) c.*39G>C (n.*39G>C) c.1529G>C (p.Gly510Ala) | |
| 10 | g.70757984G= | CA1918399619 | ADAMTS14 | c.2960G= (p.Gly987=) c.2969G= (p.Gly990=) c.2459G= (p.Gly820=) c.2033G= (p.Gly678=) c.*39G= (n.*39G=) c.1529G= (p.Gly510=) | |
| 10 | g.70757984G>T | CA377108818 | ADAMTS14 | c.2960G>T (p.Gly987Val) c.2969G>T (p.Gly990Val) c.2459G>T (p.Gly820Val) c.2033G>T (p.Gly678Val) c.*39G>T (n.*39G>T) c.1529G>T (p.Gly510Val) | COSMIC |
| 10 | g.70757985C>A | CA470056182 | ADAMTS14 | c.2961C>A (p.Gly987=) c.2970C>A (p.Gly990=) c.2460C>A (p.Gly820=) c.2034C>A (p.Gly678=) c.*40C>A (n.*40C>A) c.1530C>A (p.Gly510=) | gnomAD v4 |
| 10 | g.70757985C>G | CA470056183 | ADAMTS14 | c.2961C>G (p.Gly987=) c.2970C>G (p.Gly990=) c.2460C>G (p.Gly820=) c.2034C>G (p.Gly678=) c.*40C>G (n.*40C>G) c.1530C>G (p.Gly510=) | |
| 10 | g.70757985C>T | CA470056184 | ADAMTS14 | c.2961C>T (p.Gly987=) c.2970C>T (p.Gly990=) c.2460C>T (p.Gly820=) c.2034C>T (p.Gly678=) c.*40C>T (n.*40C>T) c.1530C>T (p.Gly510=) | gnomAD v4 |
| 10 | g.70757986A= | CA1918399620 | ADAMTS14 | c.2962A= (p.Ile988=) c.2971A= (p.Ile991=) c.2461A= (p.Ile821=) c.2035A= (p.Ile679=) c.*41A= (n.*41A=) c.1531A= (p.Ile511=) | |
| 10 | g.70757986A>C | CA377108821 | ADAMTS14 | c.2962A>C (p.Ile988Leu) c.2971A>C (p.Ile991Leu) c.2461A>C (p.Ile821Leu) c.2035A>C (p.Ile679Leu) c.*41A>C (n.*41A>C) c.1531A>C (p.Ile511Leu) | |
| 10 | g.70757986A>G | CA5540291 | ADAMTS14 | c.2962A>G (p.Ile988Val) c.2971A>G (p.Ile991Val) c.2461A>G (p.Ile821Val) c.2035A>G (p.Ile679Val) c.*41A>G (n.*41A>G) c.1531A>G (p.Ile511Val) | dbSNP ExAC |
| 10 | g.70757986A>T | CA377108822 | ADAMTS14 | c.2962A>T (p.Ile988Phe) c.2971A>T (p.Ile991Phe) c.2461A>T (p.Ile821Phe) c.2035A>T (p.Ile679Phe) c.*41A>T (n.*41A>T) c.1531A>T (p.Ile511Phe) | |
| 10 | g.70757987T>A | CA377108823 | ADAMTS14 | c.2963T>A (p.Ile988Asn) c.2972T>A (p.Ile991Asn) c.2462T>A (p.Ile821Asn) c.2036T>A (p.Ile679Asn) c.*42T>A (n.*42T>A) c.1532T>A (p.Ile511Asn) | |
| 10 | g.70757987T>C | CA377108824 | ADAMTS14 | c.2963T>C (p.Ile988Thr) c.2972T>C (p.Ile991Thr) c.2462T>C (p.Ile821Thr) c.2036T>C (p.Ile679Thr) c.*42T>C (n.*42T>C) c.1532T>C (p.Ile511Thr) | |
| 10 | g.70757987T>G | CA377108825 | ADAMTS14 | c.2963T>G (p.Ile988Ser) c.2972T>G (p.Ile991Ser) c.2462T>G (p.Ile821Ser) c.2036T>G (p.Ile679Ser) c.*42T>G (n.*42T>G) c.1532T>G (p.Ile511Ser) | |
| 10 | g.70757988C>A | CA470056185 | ADAMTS14 | c.2964C>A (p.Ile988=) c.2973C>A (p.Ile991=) c.2463C>A (p.Ile821=) c.2037C>A (p.Ile679=) c.*43C>A (n.*43C>A) c.1533C>A (p.Ile511=) | gnomAD v4 |
| 10 | g.70757988C= | CA1918399621 | ADAMTS14 | c.2964C= (p.Ile988=) c.2973C= (p.Ile991=) c.2463C= (p.Ile821=) c.2037C= (p.Ile679=) c.*43C= (n.*43C=) c.1533C= (p.Ile511=) | |
| 10 | g.70757988C>G | CA377108826 | ADAMTS14 | c.2964C>G (p.Ile988Met) c.2973C>G (p.Ile991Met) c.2463C>G (p.Ile821Met) c.2037C>G (p.Ile679Met) c.*43C>G (n.*43C>G) c.1533C>G (p.Ile511Met) | |
| 10 | g.70757988C>T | CA470056186 | ADAMTS14 | c.2964C>T (p.Ile988=) c.2973C>T (p.Ile991=) c.2463C>T (p.Ile821=) c.2037C>T (p.Ile679=) c.*43C>T (n.*43C>T) c.1533C>T (p.Ile511=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757989C>A | CA377108827 | ADAMTS14 | c.2965C>A (p.Gln989Lys) c.2974C>A (p.Gln992Lys) c.2464C>A (p.Gln822Lys) c.2038C>A (p.Gln680Lys) c.*44C>A (n.*44C>A) c.1534C>A (p.Gln512Lys) | |
| 10 | g.70757989C= | CA1918399622 | ADAMTS14 | c.2965C= (p.Gln989=) c.2974C= (p.Gln992=) c.2464C= (p.Gln822=) c.2038C= (p.Gln680=) c.*44C= (n.*44C=) c.1534C= (p.Gln512=) | |
| 10 | g.70757989C>G | CA377108828 | ADAMTS14 | c.2965C>G (p.Gln989Glu) c.2974C>G (p.Gln992Glu) c.2464C>G (p.Gln822Glu) c.2038C>G (p.Gln680Glu) c.*44C>G (n.*44C>G) c.1534C>G (p.Gln512Glu) | |
| 10 | g.70757989C>T | CA377108829 | ADAMTS14 | c.2965C>T (p.Gln989Ter) c.2974C>T (p.Gln992Ter) c.2464C>T (p.Gln822Ter) c.2038C>T (p.Gln680Ter) c.*44C>T (n.*44C>T) c.1534C>T (p.Gln512Ter) | |
| 10 | g.70757990del | CA2609525950 | ADAMTS14 | c.2966del (p.Gln989ArgfsTer?) c.2975del (p.Gln992ArgfsTer?) c.2465del (p.Gln822ArgfsTer?) c.2039del (p.Gln680ArgfsTer?) c.*45del (n.*45del) c.1535del (p.Gln512ArgfsTer?) | gnomAD v4 |
| 10 | g.70757990A= | CA1918399623 | ADAMTS14 | c.2966A= (p.Gln989=) c.2975A= (p.Gln992=) c.2465A= (p.Gln822=) c.2039A= (p.Gln680=) c.*45A= (n.*45A=) c.1535A= (p.Gln512=) | |
| 10 | g.70757990A>C | CA377108830 | ADAMTS14 | c.2966A>C (p.Gln989Pro) c.2975A>C (p.Gln992Pro) c.2465A>C (p.Gln822Pro) c.2039A>C (p.Gln680Pro) c.*45A>C (n.*45A>C) c.1535A>C (p.Gln512Pro) | |
| 10 | g.70757990A>G | CA377108831 | ADAMTS14 | c.2966A>G (p.Gln989Arg) c.2975A>G (p.Gln992Arg) c.2465A>G (p.Gln822Arg) c.2039A>G (p.Gln680Arg) c.*45A>G (n.*45A>G) c.1535A>G (p.Gln512Arg) | dbSNP gnomAD v4 |
| 10 | g.70757990A>T | CA377108832 | ADAMTS14 | c.2966A>T (p.Gln989Leu) c.2975A>T (p.Gln992Leu) c.2465A>T (p.Gln822Leu) c.2039A>T (p.Gln680Leu) c.*45A>T (n.*45A>T) c.1535A>T (p.Gln512Leu) | |
| 10 | g.70757990dup | CA668031003 | ADAMTS14 | c.2966dup (p.Gln990AlafsTer20) c.2975dup (p.Gln993AlafsTer20) c.2465dup (p.Gln823AlafsTer20) c.2039dup (p.Gln681AlafsTer20) c.*45dup (n.*45dup) c.1535dup (p.Gln513AlafsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757991G>A | CA5540292 | ADAMTS14 | c.2967G>A (p.Gln989=) c.2976G>A (p.Gln992=) c.2466G>A (p.Gln822=) c.2040G>A (p.Gln680=) c.*46G>A (n.*46G>A) c.1536G>A (p.Gln512=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757991G>C | CA377108834 | ADAMTS14 | c.2967G>C (p.Gln989His) c.2976G>C (p.Gln992His) c.2466G>C (p.Gln822His) c.2040G>C (p.Gln680His) c.*46G>C (n.*46G>C) c.1536G>C (p.Gln512His) | |
| 10 | g.70757991G= | CA1918399624 | ADAMTS14 | c.2967G= (p.Gln989=) c.2976G= (p.Gln992=) c.2466G= (p.Gln822=) c.2040G= (p.Gln680=) c.*46G= (n.*46G=) c.1536G= (p.Gln512=) | |
| 10 | g.70757991G>T | CA377108833 | ADAMTS14 | c.2967G>T (p.Gln989His) c.2976G>T (p.Gln992His) c.2466G>T (p.Gln822His) c.2040G>T (p.Gln680His) c.*46G>T (n.*46G>T) c.1536G>T (p.Gln512His) | gnomAD v4 |
| 10 | g.70757992C>A | CA377108837 | ADAMTS14 | c.2968C>A (p.Gln990Lys) c.2977C>A (p.Gln993Lys) c.2467C>A (p.Gln823Lys) c.2041C>A (p.Gln681Lys) c.*47C>A (n.*47C>A) c.1537C>A (p.Gln513Lys) | |
| 10 | g.70757992C>G | CA377108835 | ADAMTS14 | c.2968C>G (p.Gln990Glu) c.2977C>G (p.Gln993Glu) c.2467C>G (p.Gln823Glu) c.2041C>G (p.Gln681Glu) c.*47C>G (n.*47C>G) c.1537C>G (p.Gln513Glu) | |
| 10 | g.70757992C>T | CA377108836 | ADAMTS14 | c.2968C>T (p.Gln990Ter) c.2977C>T (p.Gln993Ter) c.2467C>T (p.Gln823Ter) c.2041C>T (p.Gln681Ter) c.*47C>T (n.*47C>T) c.1537C>T (p.Gln513Ter) | gnomAD v4 |
| 10 | g.70757993A>C | CA377108838 | ADAMTS14 | c.2969A>C (p.Gln990Pro) c.2978A>C (p.Gln993Pro) c.2468A>C (p.Gln823Pro) c.2042A>C (p.Gln681Pro) c.*48A>C (n.*48A>C) c.1538A>C (p.Gln513Pro) | |
| 10 | g.70757993A>G | CA377108839 | ADAMTS14 | c.2969A>G (p.Gln990Arg) c.2978A>G (p.Gln993Arg) c.2468A>G (p.Gln823Arg) c.2042A>G (p.Gln681Arg) c.*48A>G (n.*48A>G) c.1538A>G (p.Gln513Arg) | |
| 10 | g.70757993A>T | CA377108840 | ADAMTS14 | c.2969A>T (p.Gln990Leu) c.2978A>T (p.Gln993Leu) c.2468A>T (p.Gln823Leu) c.2042A>T (p.Gln681Leu) c.*48A>T (n.*48A>T) c.1538A>T (p.Gln513Leu) | gnomAD v4 |
| 10 | g.70757994G>A | CA470056190 | ADAMTS14 | c.2970G>A (p.Gln990=) c.2979G>A (p.Gln993=) c.2469G>A (p.Gln823=) c.2043G>A (p.Gln681=) c.*49G>A (n.*49G>A) c.1539G>A (p.Gln513=) | |
| 10 | g.70757994G>C | CA377108841 | ADAMTS14 | c.2970G>C (p.Gln990His) c.2979G>C (p.Gln993His) c.2469G>C (p.Gln823His) c.2043G>C (p.Gln681His) c.*49G>C (n.*49G>C) c.1539G>C (p.Gln513His) | |
| 10 | g.70757994G>T | CA377108842 | ADAMTS14 | c.2970G>T (p.Gln990His) c.2979G>T (p.Gln993His) c.2469G>T (p.Gln823His) c.2043G>T (p.Gln681His) c.*49G>T (n.*49G>T) c.1539G>T (p.Gln513His) | gnomAD v4 |
| 10 | g.70757995C>A | CA470056191 | ADAMTS14 | c.2971C>A (p.Arg991=) c.2980C>A (p.Arg994=) c.2470C>A (p.Arg824=) c.2044C>A (p.Arg682=) c.*50C>A (n.*50C>A) c.1540C>A (p.Arg514=) | |
| 10 | g.70757995C= | CA1918399625 | ADAMTS14 | c.2971C= (p.Arg991=) c.2980C= (p.Arg994=) c.2470C= (p.Arg824=) c.2044C= (p.Arg682=) c.*50C= (n.*50C=) c.1540C= (p.Arg514=) | |
| 10 | g.70757995C>G | CA377108843 | ADAMTS14 | c.2971C>G (p.Arg991Gly) c.2980C>G (p.Arg994Gly) c.2470C>G (p.Arg824Gly) c.2044C>G (p.Arg682Gly) c.*50C>G (n.*50C>G) c.1540C>G (p.Arg514Gly) | |
| 10 | g.70757995C>T | CA5540293 | ADAMTS14 | c.2971C>T (p.Arg991Trp) c.2980C>T (p.Arg994Trp) c.2470C>T (p.Arg824Trp) c.2044C>T (p.Arg682Trp) c.*50C>T (n.*50C>T) c.1540C>T (p.Arg514Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70757995_70757996delinsCG | CA1918399626 | ADAMTS14 | c.2971_2972delinsCG (p.Arg991=) c.2980_2981delinsCG (p.Arg994=) c.2470_2471delinsCG (p.Arg824=) c.2044_2045delinsCG (p.Arg682=) c.*50_*51delinsCG (n.*50_*51delinsCG) c.1540_1541delinsCG (p.Arg514=) | |
| 10 | g.70757996G>A | CA5540294 | ADAMTS14 | c.2972G>A (p.Arg991Gln) c.2981G>A (p.Arg994Gln) c.2471G>A (p.Arg824Gln) c.2045G>A (p.Arg682Gln) c.*51G>A (n.*51G>A) c.1541G>A (p.Arg514Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70757996G>C | CA377108844 | ADAMTS14 | c.2972G>C (p.Arg991Pro) c.2981G>C (p.Arg994Pro) c.2471G>C (p.Arg824Pro) c.2045G>C (p.Arg682Pro) c.*51G>C (n.*51G>C) c.1541G>C (p.Arg514Pro) | |
| 10 | g.70757996G= | CA1918399627 | ADAMTS14 | c.2972G= (p.Arg991=) c.2981G= (p.Arg994=) c.2471G= (p.Arg824=) c.2045G= (p.Arg682=) c.*51G= (n.*51G=) c.1541G= (p.Arg514=) | |
| 10 | g.70757996G>T | CA5540295 | ADAMTS14 | c.2972G>T (p.Arg991Leu) c.2981G>T (p.Arg994Leu) c.2471G>T (p.Arg824Leu) c.2045G>T (p.Arg682Leu) c.*51G>T (n.*51G>T) c.1541G>T (p.Arg514Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757997del | CA668031022 | ADAMTS14 | c.2973del (p.Gln992ArgfsTer?) c.2982del (p.Gln995ArgfsTer?) c.2472del (p.Gln825ArgfsTer?) c.2046del (p.Gln683ArgfsTer?) c.*52del (n.*52del) c.1542del (p.Gln515ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757997G>A | CA470056192 | ADAMTS14 | c.2973G>A (p.Arg991=) c.2982G>A (p.Arg994=) c.2472G>A (p.Arg824=) c.2046G>A (p.Arg682=) c.*52G>A (n.*52G>A) c.1542G>A (p.Arg514=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757997G>C | CA470056194 | ADAMTS14 | c.2973G>C (p.Arg991=) c.2982G>C (p.Arg994=) c.2472G>C (p.Arg824=) c.2046G>C (p.Arg682=) c.*52G>C (n.*52G>C) c.1542G>C (p.Arg514=) | |
| 10 | g.70757997G= | CA1918399628 | ADAMTS14 | c.2973G= (p.Arg991=) c.2982G= (p.Arg994=) c.2472G= (p.Arg824=) c.2046G= (p.Arg682=) c.*52G= (n.*52G=) c.1542G= (p.Arg514=) | |
| 10 | g.70757997G>T | CA5540296 | ADAMTS14 | c.2973G>T (p.Arg991=) c.2982G>T (p.Arg994=) c.2472G>T (p.Arg824=) c.2046G>T (p.Arg682=) c.*52G>T (n.*52G>T) c.1542G>T (p.Arg514=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70757998C>A | CA377108847 | ADAMTS14 | c.2974C>A (p.Gln992Lys) c.2983C>A (p.Gln995Lys) c.2473C>A (p.Gln825Lys) c.2047C>A (p.Gln683Lys) c.*53C>A (n.*53C>A) c.1543C>A (p.Gln515Lys) | |
| 10 | g.70757998C= | CA1918399629 | ADAMTS14 | c.2974C= (p.Gln992=) c.2983C= (p.Gln995=) c.2473C= (p.Gln825=) c.2047C= (p.Gln683=) c.*53C= (n.*53C=) c.1543C= (p.Gln515=) | |
| 10 | g.70757998C>G | CA377108846 | ADAMTS14 | c.2974C>G (p.Gln992Glu) c.2983C>G (p.Gln995Glu) c.2473C>G (p.Gln825Glu) c.2047C>G (p.Gln683Glu) c.*53C>G (n.*53C>G) c.1543C>G (p.Gln515Glu) | |
| 10 | g.70757998C>T | CA377108845 | ADAMTS14 | c.2974C>T (p.Gln992Ter) c.2983C>T (p.Gln995Ter) c.2473C>T (p.Gln825Ter) c.2047C>T (p.Gln683Ter) c.*53C>T (n.*53C>T) c.1543C>T (p.Gln515Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70757999A= | CA1918399630 | ADAMTS14 | c.2975A= (p.Gln992=) c.2984A= (p.Gln995=) c.2474A= (p.Gln825=) c.2048A= (p.Gln683=) c.*54A= (n.*54A=) c.1544A= (p.Gln515=) | |
| 10 | g.70757999A>C | CA5540297 | ADAMTS14 | c.2975A>C (p.Gln992Pro) c.2984A>C (p.Gln995Pro) c.2474A>C (p.Gln825Pro) c.2048A>C (p.Gln683Pro) c.*54A>C (n.*54A>C) c.1544A>C (p.Gln515Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70757999A>G | CA377108848 | ADAMTS14 | c.2975A>G (p.Gln992Arg) c.2984A>G (p.Gln995Arg) c.2474A>G (p.Gln825Arg) c.2048A>G (p.Gln683Arg) c.*54A>G (n.*54A>G) c.1544A>G (p.Gln515Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70757999A>T | CA377108849 | ADAMTS14 | c.2975A>T (p.Gln992Leu) c.2984A>T (p.Gln995Leu) c.2474A>T (p.Gln825Leu) c.2048A>T (p.Gln683Leu) c.*54A>T (n.*54A>T) c.1544A>T (p.Gln515Leu) | |
| 10 | g.70758000G>A | CA470056195 | ADAMTS14 | c.2976G>A (p.Gln992=) c.2985G>A (p.Gln995=) c.2475G>A (p.Gln825=) c.2049G>A (p.Gln683=) c.*55G>A (n.*55G>A) c.1545G>A (p.Gln515=) | |
| 10 | g.70758000G>C | CA377108850 | ADAMTS14 | c.2976G>C (p.Gln992His) c.2985G>C (p.Gln995His) c.2475G>C (p.Gln825His) c.2049G>C (p.Gln683His) c.*55G>C (n.*55G>C) c.1545G>C (p.Gln515His) | |
| 10 | g.70758000G= | CA1918399631 | ADAMTS14 | c.2976G= (p.Gln992=) c.2985G= (p.Gln995=) c.2475G= (p.Gln825=) c.2049G= (p.Gln683=) c.*55G= (n.*55G=) c.1545G= (p.Gln515=) | |
| 10 | g.70758000G>T | CA5540298 | ADAMTS14 | c.2976G>T (p.Gln992His) c.2985G>T (p.Gln995His) c.2475G>T (p.Gln825His) c.2049G>T (p.Gln683His) c.*55G>T (n.*55G>T) c.1545G>T (p.Gln515His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758001G>A | CA377108851 | ADAMTS14 | c.2977G>A (p.Val993Met) c.2986G>A (p.Val996Met) c.2476G>A (p.Val826Met) c.2050G>A (p.Val684Met) c.*56G>A (n.*56G>A) c.1546G>A (p.Val516Met) | |
| 10 | g.70758001G>C | CA377108852 | ADAMTS14 | c.2977G>C (p.Val993Leu) c.2986G>C (p.Val996Leu) c.2476G>C (p.Val826Leu) c.2050G>C (p.Val684Leu) c.*56G>C (n.*56G>C) c.1546G>C (p.Val516Leu) | |
| 10 | g.70758001G>T | CA377108853 | ADAMTS14 | c.2977G>T (p.Val993Leu) c.2986G>T (p.Val996Leu) c.2476G>T (p.Val826Leu) c.2050G>T (p.Val684Leu) c.*56G>T (n.*56G>T) c.1546G>T (p.Val516Leu) | |
| 10 | g.70758002T>A | CA377108854 | ADAMTS14 | c.2978T>A (p.Val993Glu) c.2987T>A (p.Val996Glu) c.2477T>A (p.Val826Glu) c.2051T>A (p.Val684Glu) c.*57T>A (n.*57T>A) c.1547T>A (p.Val516Glu) | |
| 10 | g.70758002T>C | CA377108855 | ADAMTS14 | c.2978T>C (p.Val993Ala) c.2987T>C (p.Val996Ala) c.2477T>C (p.Val826Ala) c.2051T>C (p.Val684Ala) c.*57T>C (n.*57T>C) c.1547T>C (p.Val516Ala) | |
| 10 | g.70758002T>G | CA5540299 | ADAMTS14 | c.2978T>G (p.Val993Gly) c.2987T>G (p.Val996Gly) c.2477T>G (p.Val826Gly) c.2051T>G (p.Val684Gly) c.*57T>G (n.*57T>G) c.1547T>G (p.Val516Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758002T= | CA1918399632 | ADAMTS14 | c.2978T= (p.Val993=) c.2987T= (p.Val996=) c.2477T= (p.Val826=) c.2051T= (p.Val684=) c.*57T= (n.*57T=) c.1547T= (p.Val516=) | |
| 10 | g.70758003G>A | CA470056197 | ADAMTS14 | c.2979G>A (p.Val993=) c.2988G>A (p.Val996=) c.2478G>A (p.Val826=) c.2052G>A (p.Val684=) c.*58G>A (n.*58G>A) c.1548G>A (p.Val516=) | |
| 10 | g.70758003G>C | CA470056198 | ADAMTS14 | c.2979G>C (p.Val993=) c.2988G>C (p.Val996=) c.2478G>C (p.Val826=) c.2052G>C (p.Val684=) c.*58G>C (n.*58G>C) c.1548G>C (p.Val516=) | |
| 10 | g.70758003G>T | CA470056200 | ADAMTS14 | c.2979G>T (p.Val993=) c.2988G>T (p.Val996=) c.2478G>T (p.Val826=) c.2052G>T (p.Val684=) c.*58G>T (n.*58G>T) c.1548G>T (p.Val516=) | |
| 10 | g.70758004G>A | CA377108856 | ADAMTS14 | c.2980G>A (p.Val994Met) c.2989G>A (p.Val997Met) c.2479G>A (p.Val827Met) c.2053G>A (p.Val685Met) c.*59G>A (n.*59G>A) c.1549G>A (p.Val517Met) | |
| 10 | g.70758004G>C | CA377108857 | ADAMTS14 | c.2980G>C (p.Val994Leu) c.2989G>C (p.Val997Leu) c.2479G>C (p.Val827Leu) c.2053G>C (p.Val685Leu) c.*59G>C (n.*59G>C) c.1549G>C (p.Val517Leu) | |
| 10 | g.70758004G>T | CA377108858 | ADAMTS14 | c.2980G>T (p.Val994Leu) c.2989G>T (p.Val997Leu) c.2479G>T (p.Val827Leu) c.2053G>T (p.Val685Leu) c.*59G>T (n.*59G>T) c.1549G>T (p.Val517Leu) | |
| 10 | g.70758005del | CA2609525998 | ADAMTS14 | c.2981del (p.Val994GlyfsTer?) c.2990del (p.Val997GlyfsTer?) c.2480del (p.Val827GlyfsTer?) c.2054del (p.Val685GlyfsTer?) c.*60del (n.*60del) c.1550del (p.Val517GlyfsTer?) | gnomAD v4 |
| 10 | g.70758005T>A | CA377108859 | ADAMTS14 | c.2981T>A (p.Val994Glu) c.2990T>A (p.Val997Glu) c.2480T>A (p.Val827Glu) c.2054T>A (p.Val685Glu) c.*60T>A (n.*60T>A) c.1550T>A (p.Val517Glu) | |
| 10 | g.70758005T>C | CA377108860 | ADAMTS14 | c.2981T>C (p.Val994Ala) c.2990T>C (p.Val997Ala) c.2480T>C (p.Val827Ala) c.2054T>C (p.Val685Ala) c.*60T>C (n.*60T>C) c.1550T>C (p.Val517Ala) | dbSNP |
| 10 | g.70758005T>G | CA5540300 | ADAMTS14 | c.2981T>G (p.Val994Gly) c.2990T>G (p.Val997Gly) c.2480T>G (p.Val827Gly) c.2054T>G (p.Val685Gly) c.*60T>G (n.*60T>G) c.1550T>G (p.Val517Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758005T= | CA1918399633 | ADAMTS14 | c.2981T= (p.Val994=) c.2990T= (p.Val997=) c.2480T= (p.Val827=) c.2054T= (p.Val685=) c.*60T= (n.*60T=) c.1550T= (p.Val517=) | |
| 10 | g.70758006G>A | CA5540301 | ADAMTS14 | c.2982G>A (p.Val994=) c.2991G>A (p.Val997=) c.2481G>A (p.Val827=) c.2055G>A (p.Val685=) c.*61G>A (n.*61G>A) c.1551G>A (p.Val517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758006G>C | CA470056201 | ADAMTS14 | c.2982G>C (p.Val994=) c.2991G>C (p.Val997=) c.2481G>C (p.Val827=) c.2055G>C (p.Val685=) c.*61G>C (n.*61G>C) c.1551G>C (p.Val517=) | |
| 10 | g.70758006G= | CA1918399634 | ADAMTS14 | c.2982G= (p.Val994=) c.2991G= (p.Val997=) c.2481G= (p.Val827=) c.2055G= (p.Val685=) c.*61G= (n.*61G=) c.1551G= (p.Val517=) | |
| 10 | g.70758006G>T | CA470056202 | ADAMTS14 | c.2982G>T (p.Val994=) c.2991G>T (p.Val997=) c.2481G>T (p.Val827=) c.2055G>T (p.Val685=) c.*61G>T (n.*61G>T) c.1551G>T (p.Val517=) | |
| 10 | g.70758007T>A | CA377108861 | ADAMTS14 | c.2983T>A (p.Cys995Ser) c.2992T>A (p.Cys998Ser) c.2482T>A (p.Cys828Ser) c.2056T>A (p.Cys686Ser) c.*62T>A (n.*62T>A) c.1552T>A (p.Cys518Ser) | |
| 10 | g.70758007T>C | CA5540302 | ADAMTS14 | c.2983T>C (p.Cys995Arg) c.2992T>C (p.Cys998Arg) c.2482T>C (p.Cys828Arg) c.2056T>C (p.Cys686Arg) c.*62T>C (n.*62T>C) c.1552T>C (p.Cys518Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758007T>G | CA377108862 | ADAMTS14 | c.2983T>G (p.Cys995Gly) c.2992T>G (p.Cys998Gly) c.2482T>G (p.Cys828Gly) c.2056T>G (p.Cys686Gly) c.*62T>G (n.*62T>G) c.1552T>G (p.Cys518Gly) | dbSNP |
| 10 | g.70758007T= | CA1918399635 | ADAMTS14 | c.2983T= (p.Cys995=) c.2992T= (p.Cys998=) c.2482T= (p.Cys828=) c.2056T= (p.Cys686=) c.*62T= (n.*62T=) c.1552T= (p.Cys518=) | |
| 10 | g.70758008G>A | CA377108863 | ADAMTS14 | c.2984G>A (p.Cys995Tyr) c.2993G>A (p.Cys998Tyr) c.2483G>A (p.Cys828Tyr) c.2057G>A (p.Cys686Tyr) c.*63G>A (n.*63G>A) c.1553G>A (p.Cys518Tyr) | |
| 10 | g.70758008G>C | CA377108864 | ADAMTS14 | c.2984G>C (p.Cys995Ser) c.2993G>C (p.Cys998Ser) c.2483G>C (p.Cys828Ser) c.2057G>C (p.Cys686Ser) c.*63G>C (n.*63G>C) c.1553G>C (p.Cys518Ser) | |
| 10 | g.70758008G>T | CA377108865 | ADAMTS14 | c.2984G>T (p.Cys995Phe) c.2993G>T (p.Cys998Phe) c.2483G>T (p.Cys828Phe) c.2057G>T (p.Cys686Phe) c.*63G>T (n.*63G>T) c.1553G>T (p.Cys518Phe) | |
| 10 | g.70758009C>A | CA377108866 | ADAMTS14 | c.2985C>A (p.Cys995Ter) c.2994C>A (p.Cys998Ter) c.2484C>A (p.Cys828Ter) c.2058C>A (p.Cys686Ter) c.*64C>A (n.*64C>A) c.1554C>A (p.Cys518Ter) | |
| 10 | g.70758009C>G | CA377108867 | ADAMTS14 | c.2985C>G (p.Cys995Trp) c.2994C>G (p.Cys998Trp) c.2484C>G (p.Cys828Trp) c.2058C>G (p.Cys686Trp) c.*64C>G (n.*64C>G) c.1554C>G (p.Cys518Trp) | |
| 10 | g.70758009C>T | CA470056205 | ADAMTS14 | c.2985C>T (p.Cys995=) c.2994C>T (p.Cys998=) c.2484C>T (p.Cys828=) c.2058C>T (p.Cys686=) c.*64C>T (n.*64C>T) c.1554C>T (p.Cys518=) | gnomAD v4 |
| 10 | g.70758010A>C | CA470056207 | ADAMTS14 | c.2986A>C (p.Arg996=) c.2995A>C (p.Arg999=) c.2485A>C (p.Arg829=) c.2059A>C (p.Arg687=) c.*65A>C (n.*65A>C) c.1555A>C (p.Arg519=) | |
| 10 | g.70758010A>G | CA377108868 | ADAMTS14 | c.2986A>G (p.Arg996Gly) c.2995A>G (p.Arg999Gly) c.2485A>G (p.Arg829Gly) c.2059A>G (p.Arg687Gly) c.*65A>G (n.*65A>G) c.1555A>G (p.Arg519Gly) | |
| 10 | g.70758010A>T | CA377108869 | ADAMTS14 | c.2986A>T (p.Arg996Trp) c.2995A>T (p.Arg999Trp) c.2485A>T (p.Arg829Trp) c.2059A>T (p.Arg687Trp) c.*65A>T (n.*65A>T) c.1555A>T (p.Arg519Trp) | |
| 10 | g.70758011G>A | CA377108870 | ADAMTS14 | c.2987G>A (p.Arg996Lys) c.2996G>A (p.Arg999Lys) c.2486G>A (p.Arg829Lys) c.2060G>A (p.Arg687Lys) c.*66G>A (n.*66G>A) c.1556G>A (p.Arg519Lys) | |
| 10 | g.70758011G>C | CA377108871 | ADAMTS14 | c.2987G>C (p.Arg996Thr) c.2996G>C (p.Arg999Thr) c.2486G>C (p.Arg829Thr) c.2060G>C (p.Arg687Thr) c.*66G>C (n.*66G>C) c.1556G>C (p.Arg519Thr) | |
| 10 | g.70758011G>T | CA377108872 | ADAMTS14 | c.2987G>T (p.Arg996Met) c.2996G>T (p.Arg999Met) c.2486G>T (p.Arg829Met) c.2060G>T (p.Arg687Met) c.*66G>T (n.*66G>T) c.1556G>T (p.Arg519Met) | |
| 10 | g.70758012G>A | CA470056208 | ADAMTS14 | c.2988G>A (p.Arg996=) c.2997G>A (p.Arg999=) c.2487G>A (p.Arg829=) c.2061G>A (p.Arg687=) c.*67G>A (n.*67G>A) c.1557G>A (p.Arg519=) | |
| 10 | g.70758012G>C | CA377108873 | ADAMTS14 | c.2988G>C (p.Arg996Ser) c.2997G>C (p.Arg999Ser) c.2487G>C (p.Arg829Ser) c.2061G>C (p.Arg687Ser) c.*67G>C (n.*67G>C) c.1557G>C (p.Arg519Ser) | |
| 10 | g.70758012G>T | CA377108874 | ADAMTS14 | c.2988G>T (p.Arg996Ser) c.2997G>T (p.Arg999Ser) c.2487G>T (p.Arg829Ser) c.2061G>T (p.Arg687Ser) c.*67G>T (n.*67G>T) c.1557G>T (p.Arg519Ser) | |
| 10 | g.70758013A>C | CA377108875 | ADAMTS14 | c.2989A>C (p.Thr997Pro) c.2998A>C (p.Thr1000Pro) c.2488A>C (p.Thr830Pro) c.2062A>C (p.Thr688Pro) c.*68A>C (n.*68A>C) c.1558A>C (p.Thr520Pro) | gnomAD v4 |
| 10 | g.70758013A>G | CA377108876 | ADAMTS14 | c.2989A>G (p.Thr997Ala) c.2998A>G (p.Thr1000Ala) c.2488A>G (p.Thr830Ala) c.2062A>G (p.Thr688Ala) c.*68A>G (n.*68A>G) c.1558A>G (p.Thr520Ala) | |
| 10 | g.70758013A>T | CA377108877 | ADAMTS14 | c.2989A>T (p.Thr997Ser) c.2998A>T (p.Thr1000Ser) c.2488A>T (p.Thr830Ser) c.2062A>T (p.Thr688Ser) c.*68A>T (n.*68A>T) c.1558A>T (p.Thr520Ser) | |
| 10 | g.70758014C>A | CA377108878 | ADAMTS14 | c.2990C>A (p.Thr997Asn) c.2999C>A (p.Thr1000Asn) c.2489C>A (p.Thr830Asn) c.2063C>A (p.Thr688Asn) c.*69C>A (n.*69C>A) c.1559C>A (p.Thr520Asn) | |
| 10 | g.70758014C>G | CA377108879 | ADAMTS14 | c.2990C>G (p.Thr997Ser) c.2999C>G (p.Thr1000Ser) c.2489C>G (p.Thr830Ser) c.2063C>G (p.Thr688Ser) c.*69C>G (n.*69C>G) c.1559C>G (p.Thr520Ser) | |
| 10 | g.70758014C>T | CA377108880 | ADAMTS14 | c.2990C>T (p.Thr997Ile) c.2999C>T (p.Thr1000Ile) c.2489C>T (p.Thr830Ile) c.2063C>T (p.Thr688Ile) c.*69C>T (n.*69C>T) c.1559C>T (p.Thr520Ile) | |
| 10 | g.70758015C>A | CA470056209 | ADAMTS14 | c.2991C>A (p.Thr997=) c.3000C>A (p.Thr1000=) c.2490C>A (p.Thr830=) c.2064C>A (p.Thr688=) c.*70C>A (n.*70C>A) c.1560C>A (p.Thr520=) | |
| 10 | g.70758015C= | CA1918399636 | ADAMTS14 | c.2991C= (p.Thr997=) c.3000C= (p.Thr1000=) c.2490C= (p.Thr830=) c.2064C= (p.Thr688=) c.*70C= (n.*70C=) c.1560C= (p.Thr520=) | |
| 10 | g.70758015C>G | CA470056210 | ADAMTS14 | c.2991C>G (p.Thr997=) c.3000C>G (p.Thr1000=) c.2490C>G (p.Thr830=) c.2064C>G (p.Thr688=) c.*70C>G (n.*70C>G) c.1560C>G (p.Thr520=) | |
| 10 | g.70758015C>T | CA470056211 | ADAMTS14 | c.2991C>T (p.Thr997=) c.3000C>T (p.Thr1000=) c.2490C>T (p.Thr830=) c.2064C>T (p.Thr688=) c.*70C>T (n.*70C>T) c.1560C>T (p.Thr520=) | dbSNP |
| 10 | g.70758016A= | CA1918399637 | ADAMTS14 | c.2992A= (p.Asn998=) c.3001A= (p.Asn1001=) c.2491A= (p.Asn831=) c.2065A= (p.Asn689=) c.*71A= (n.*71A=) c.1561A= (p.Asn521=) | |
| 10 | g.70758016A>C | CA377108881 | ADAMTS14 | c.2992A>C (p.Asn998His) c.3001A>C (p.Asn1001His) c.2491A>C (p.Asn831His) c.2065A>C (p.Asn689His) c.*71A>C (n.*71A>C) c.1561A>C (p.Asn521His) | |
| 10 | g.70758016A>G | CA377108882 | ADAMTS14 | c.2992A>G (p.Asn998Asp) c.3001A>G (p.Asn1001Asp) c.2491A>G (p.Asn831Asp) c.2065A>G (p.Asn689Asp) c.*71A>G (n.*71A>G) c.1561A>G (p.Asn521Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758016A>T | CA377108883 | ADAMTS14 | c.2992A>T (p.Asn998Tyr) c.3001A>T (p.Asn1001Tyr) c.2491A>T (p.Asn831Tyr) c.2065A>T (p.Asn689Tyr) c.*71A>T (n.*71A>T) c.1561A>T (p.Asn521Tyr) | |
| 10 | g.70758017A>C | CA377108884 | ADAMTS14 | c.2993A>C (p.Asn998Thr) c.3002A>C (p.Asn1001Thr) c.2492A>C (p.Asn831Thr) c.2066A>C (p.Asn689Thr) c.*72A>C (n.*72A>C) c.1562A>C (p.Asn521Thr) | |
| 10 | g.70758017A>G | CA377108885 | ADAMTS14 | c.2993A>G (p.Asn998Ser) c.3002A>G (p.Asn1001Ser) c.2492A>G (p.Asn831Ser) c.2066A>G (p.Asn689Ser) c.*72A>G (n.*72A>G) c.1562A>G (p.Asn521Ser) | |
| 10 | g.70758017A>T | CA377108886 | ADAMTS14 | c.2993A>T (p.Asn998Ile) c.3002A>T (p.Asn1001Ile) c.2492A>T (p.Asn831Ile) c.2066A>T (p.Asn689Ile) c.*72A>T (n.*72A>T) c.1562A>T (p.Asn521Ile) | |
| 10 | g.70758018C>A | CA377108888 | ADAMTS14 | c.2994C>A (p.Asn998Lys) c.3003C>A (p.Asn1001Lys) c.2493C>A (p.Asn831Lys) c.2067C>A (p.Asn689Lys) c.*73C>A (n.*73C>A) c.1563C>A (p.Asn521Lys) | |
| 10 | g.70758018C= | CA1918399638 | ADAMTS14 | c.2994C= (p.Asn998=) c.3003C= (p.Asn1001=) c.2493C= (p.Asn831=) c.2067C= (p.Asn689=) c.*73C= (n.*73C=) c.1563C= (p.Asn521=) | |
| 10 | g.70758018C>G | CA377108887 | ADAMTS14 | c.2994C>G (p.Asn998Lys) c.3003C>G (p.Asn1001Lys) c.2493C>G (p.Asn831Lys) c.2067C>G (p.Asn689Lys) c.*73C>G (n.*73C>G) c.1563C>G (p.Asn521Lys) | gnomAD v4 |
| 10 | g.70758018C>T | CA5540303 | ADAMTS14 | c.2994C>T (p.Asn998=) c.3003C>T (p.Asn1001=) c.2493C>T (p.Asn831=) c.2067C>T (p.Asn689=) c.*73C>T (n.*73C>T) c.1563C>T (p.Asn521=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758019G>A | CA209415953 | ADAMTS14 | c.2995G>A (p.Ala999Thr) c.3004G>A (p.Ala1002Thr) c.2494G>A (p.Ala832Thr) c.2068G>A (p.Ala690Thr) c.*74G>A (n.*74G>A) c.1564G>A (p.Ala522Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.70758019G>C | CA377108890 | ADAMTS14 | c.2995G>C (p.Ala999Pro) c.3004G>C (p.Ala1002Pro) c.2494G>C (p.Ala832Pro) c.2068G>C (p.Ala690Pro) c.*74G>C (n.*74G>C) c.1564G>C (p.Ala522Pro) | |
| 10 | g.70758019G= | CA1918399639 | ADAMTS14 | c.2995G= (p.Ala999=) c.3004G= (p.Ala1002=) c.2494G= (p.Ala832=) c.2068G= (p.Ala690=) c.*74G= (n.*74G=) c.1564G= (p.Ala522=) | |
| 10 | g.70758019G>T | CA377108889 | ADAMTS14 | c.2995G>T (p.Ala999Ser) c.3004G>T (p.Ala1002Ser) c.2494G>T (p.Ala832Ser) c.2068G>T (p.Ala690Ser) c.*74G>T (n.*74G>T) c.1564G>T (p.Ala522Ser) | |
| 10 | g.70758020C>A | CA377108891 | ADAMTS14 | c.2996C>A (p.Ala999Asp) c.3005C>A (p.Ala1002Asp) c.2495C>A (p.Ala832Asp) c.2069C>A (p.Ala690Asp) c.*75C>A (n.*75C>A) c.1565C>A (p.Ala522Asp) | |
| 10 | g.70758020C>G | CA377108893 | ADAMTS14 | c.2996C>G (p.Ala999Gly) c.3005C>G (p.Ala1002Gly) c.2495C>G (p.Ala832Gly) c.2069C>G (p.Ala690Gly) c.*75C>G (n.*75C>G) c.1565C>G (p.Ala522Gly) | |
| 10 | g.70758020C>T | CA377108892 | ADAMTS14 | c.2996C>T (p.Ala999Val) c.3005C>T (p.Ala1002Val) c.2495C>T (p.Ala832Val) c.2069C>T (p.Ala690Val) c.*75C>T (n.*75C>T) c.1565C>T (p.Ala522Val) | dbSNP |
| 10 | g.70758021C>A | CA470056218 | ADAMTS14 | c.2997C>A (p.Ala999=) c.3006C>A (p.Ala1002=) c.2496C>A (p.Ala832=) c.2070C>A (p.Ala690=) c.*76C>A (n.*76C>A) c.1566C>A (p.Ala522=) | |
| 10 | g.70758021C>G | CA470056217 | ADAMTS14 | c.2997C>G (p.Ala999=) c.3006C>G (p.Ala1002=) c.2496C>G (p.Ala832=) c.2070C>G (p.Ala690=) c.*76C>G (n.*76C>G) c.1566C>G (p.Ala522=) | |
| 10 | g.70758021C>T | CA470056216 | ADAMTS14 | c.2997C>T (p.Ala999=) c.3006C>T (p.Ala1002=) c.2496C>T (p.Ala832=) c.2070C>T (p.Ala690=) c.*76C>T (n.*76C>T) c.1566C>T (p.Ala522=) | |
| 10 | g.70758022A>C | CA377108894 | ADAMTS14 | c.2998A>C (p.Asn1000His) c.3007A>C (p.Asn1003His) c.2497A>C (p.Asn833His) c.2071A>C (p.Asn691His) c.*77A>C (n.*77A>C) c.1567A>C (p.Asn523His) | |
| 10 | g.70758022A>G | CA377108895 | ADAMTS14 | c.2998A>G (p.Asn1000Asp) c.3007A>G (p.Asn1003Asp) c.2497A>G (p.Asn833Asp) c.2071A>G (p.Asn691Asp) c.*77A>G (n.*77A>G) c.1567A>G (p.Asn523Asp) | |
| 10 | g.70758022A>T | CA377108896 | ADAMTS14 | c.2998A>T (p.Asn1000Tyr) c.3007A>T (p.Asn1003Tyr) c.2497A>T (p.Asn833Tyr) c.2071A>T (p.Asn691Tyr) c.*77A>T (n.*77A>T) c.1567A>T (p.Asn523Tyr) | |
| 10 | g.70758023A>C | CA377108897 | ADAMTS14 | c.2999A>C (p.Asn1000Thr) c.3008A>C (p.Asn1003Thr) c.2498A>C (p.Asn833Thr) c.2072A>C (p.Asn691Thr) c.*78A>C (n.*78A>C) c.1568A>C (p.Asn523Thr) | |
| 10 | g.70758023A>G | CA377108898 | ADAMTS14 | c.2999A>G (p.Asn1000Ser) c.3008A>G (p.Asn1003Ser) c.2498A>G (p.Asn833Ser) c.2072A>G (p.Asn691Ser) c.*78A>G (n.*78A>G) c.1568A>G (p.Asn523Ser) | |
| 10 | g.70758023A>T | CA377108899 | ADAMTS14 | c.2999A>T (p.Asn1000Ile) c.3008A>T (p.Asn1003Ile) c.2498A>T (p.Asn833Ile) c.2072A>T (p.Asn691Ile) c.*78A>T (n.*78A>T) c.1568A>T (p.Asn523Ile) | |
| 10 | g.70758024C>A | CA377108900 | ADAMTS14 | c.3000C>A (p.Asn1000Lys) c.3009C>A (p.Asn1003Lys) c.2499C>A (p.Asn833Lys) c.2073C>A (p.Asn691Lys) c.*79C>A (n.*79C>A) c.1569C>A (p.Asn523Lys) | |
| 10 | g.70758024C>G | CA377108901 | ADAMTS14 | c.3000C>G (p.Asn1000Lys) c.3009C>G (p.Asn1003Lys) c.2499C>G (p.Asn833Lys) c.2073C>G (p.Asn691Lys) c.*79C>G (n.*79C>G) c.1569C>G (p.Asn523Lys) | |
| 10 | g.70758024C>T | CA470056219 | ADAMTS14 | c.3000C>T (p.Asn1000=) c.3009C>T (p.Asn1003=) c.2499C>T (p.Asn833=) c.2073C>T (p.Asn691=) c.*79C>T (n.*79C>T) c.1569C>T (p.Asn523=) | gnomAD v4 |
| 10 | g.70758025A>C | CA377108902 | ADAMTS14 | c.3001A>C (p.Ser1001Arg) c.3010A>C (p.Ser1004Arg) c.2500A>C (p.Ser834Arg) c.2074A>C (p.Ser692Arg) c.*80A>C (n.*80A>C) c.1570A>C (p.Ser524Arg) | |
| 10 | g.70758025A>G | CA377108903 | ADAMTS14 | c.3001A>G (p.Ser1001Gly) c.3010A>G (p.Ser1004Gly) c.2500A>G (p.Ser834Gly) c.2074A>G (p.Ser692Gly) c.*80A>G (n.*80A>G) c.1570A>G (p.Ser524Gly) | |
| 10 | g.70758025A>T | CA377108904 | ADAMTS14 | c.3001A>T (p.Ser1001Cys) c.3010A>T (p.Ser1004Cys) c.2500A>T (p.Ser834Cys) c.2074A>T (p.Ser692Cys) c.*80A>T (n.*80A>T) c.1570A>T (p.Ser524Cys) | |
| 10 | g.70758026G>A | CA377108905 | ADAMTS14 | c.3002G>A (p.Ser1001Asn) c.3011G>A (p.Ser1004Asn) c.2501G>A (p.Ser834Asn) c.2075G>A (p.Ser692Asn) c.*81G>A (n.*81G>A) c.1571G>A (p.Ser524Asn) | gnomAD v4 |
| 10 | g.70758026G>C | CA377108907 | ADAMTS14 | c.3002G>C (p.Ser1001Thr) c.3011G>C (p.Ser1004Thr) c.2501G>C (p.Ser834Thr) c.2075G>C (p.Ser692Thr) c.*81G>C (n.*81G>C) c.1571G>C (p.Ser524Thr) | |
| 10 | g.70758026G>T | CA377108906 | ADAMTS14 | c.3002G>T (p.Ser1001Ile) c.3011G>T (p.Ser1004Ile) c.2501G>T (p.Ser834Ile) c.2075G>T (p.Ser692Ile) c.*81G>T (n.*81G>T) c.1571G>T (p.Ser524Ile) | COSMIC |
| 10 | g.70758027C>A | CA377108908 | ADAMTS14 | c.3003C>A (p.Ser1001Arg) c.3012C>A (p.Ser1004Arg) c.2502C>A (p.Ser834Arg) c.2076C>A (p.Ser692Arg) c.*82C>A (n.*82C>A) c.1572C>A (p.Ser524Arg) | |
| 10 | g.70758027C= | CA1918399640 | ADAMTS14 | c.3003C= (p.Ser1001=) c.3012C= (p.Ser1004=) c.2502C= (p.Ser834=) c.2076C= (p.Ser692=) c.*82C= (n.*82C=) c.1572C= (p.Ser524=) | |
| 10 | g.70758027C>G | CA377108909 | ADAMTS14 | c.3003C>G (p.Ser1001Arg) c.3012C>G (p.Ser1004Arg) c.2502C>G (p.Ser834Arg) c.2076C>G (p.Ser692Arg) c.*82C>G (n.*82C>G) c.1572C>G (p.Ser524Arg) | |
| 10 | g.70758027C>T | CA470056221 | ADAMTS14 | c.3003C>T (p.Ser1001=) c.3012C>T (p.Ser1004=) c.2502C>T (p.Ser834=) c.2076C>T (p.Ser692=) c.*82C>T (n.*82C>T) c.1572C>T (p.Ser524=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70758028C>A | CA377108910 | ADAMTS14 | c.3004C>A (p.Leu1002Ile) c.3013C>A (p.Leu1005Ile) c.2503C>A (p.Leu835Ile) c.2077C>A (p.Leu693Ile) c.*83C>A (n.*83C>A) c.1573C>A (p.Leu525Ile) | |
| 10 | g.70758028C= | CA1918399641 | ADAMTS14 | c.3004C= (p.Leu1002=) c.3013C= (p.Leu1005=) c.2503C= (p.Leu835=) c.2077C= (p.Leu693=) c.*83C= (n.*83C=) c.1573C= (p.Leu525=) | |
| 10 | g.70758028C>G | CA5540305 | ADAMTS14 | c.3004C>G (p.Leu1002Val) c.3013C>G (p.Leu1005Val) c.2503C>G (p.Leu835Val) c.2077C>G (p.Leu693Val) c.*83C>G (n.*83C>G) c.1573C>G (p.Leu525Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758028C>T | CA5540304 | ADAMTS14 | c.3004C>T (p.Leu1002Phe) c.3013C>T (p.Leu1005Phe) c.2503C>T (p.Leu835Phe) c.2077C>T (p.Leu693Phe) c.*83C>T (n.*83C>T) c.1573C>T (p.Leu525Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758029T>A | CA377108911 | ADAMTS14 | c.3005T>A (p.Leu1002His) c.3014T>A (p.Leu1005His) c.2504T>A (p.Leu835His) c.2078T>A (p.Leu693His) c.*84T>A (n.*84T>A) c.1574T>A (p.Leu525His) | |
| 10 | g.70758029T>C | CA377108912 | ADAMTS14 | c.3005T>C (p.Leu1002Pro) c.3014T>C (p.Leu1005Pro) c.2504T>C (p.Leu835Pro) c.2078T>C (p.Leu693Pro) c.*84T>C (n.*84T>C) c.1574T>C (p.Leu525Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70758029T>G | CA377108913 | ADAMTS14 | c.3005T>G (p.Leu1002Arg) c.3014T>G (p.Leu1005Arg) c.2504T>G (p.Leu835Arg) c.2078T>G (p.Leu693Arg) c.*84T>G (n.*84T>G) c.1574T>G (p.Leu525Arg) | |
| 10 | g.70758029T= | CA1918399642 | ADAMTS14 | c.3005T= (p.Leu1002=) c.3014T= (p.Leu1005=) c.2504T= (p.Leu835=) c.2078T= (p.Leu693=) c.*84T= (n.*84T=) c.1574T= (p.Leu525=) | |
| 10 | g.70758030C>A | CA470056222 | ADAMTS14 | c.3006C>A (p.Leu1002=) c.3015C>A (p.Leu1005=) c.2505C>A (p.Leu835=) c.2079C>A (p.Leu693=) c.*85C>A (n.*85C>A) c.1575C>A (p.Leu525=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758030C= | CA1918399643 | ADAMTS14 | c.3006C= (p.Leu1002=) c.3015C= (p.Leu1005=) c.2505C= (p.Leu835=) c.2079C= (p.Leu693=) c.*85C= (n.*85C=) c.1575C= (p.Leu525=) | |
| 10 | g.70758030C>G | CA470056223 | ADAMTS14 | c.3006C>G (p.Leu1002=) c.3015C>G (p.Leu1005=) c.2505C>G (p.Leu835=) c.2079C>G (p.Leu693=) c.*85C>G (n.*85C>G) c.1575C>G (p.Leu525=) | |
| 10 | g.70758030C>T | CA5540306 | ADAMTS14 | c.3006C>T (p.Leu1002=) c.3015C>T (p.Leu1005=) c.2505C>T (p.Leu835=) c.2079C>T (p.Leu693=) c.*85C>T (n.*85C>T) c.1575C>T (p.Leu525=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758030_70758073del | CA2788451770 | ADAMTS14 | c.3006_3049del (p.Gly1003ProfsTer?) c.3015_3058del (p.Gly1006ProfsTer?) c.2505_2548del (p.Gly836ProfsTer?) c.2079_2122del (p.Gly694ProfsTer?) c.1575_1618del (p.Gly526ProfsTer?) | |
| 10 | g.70758031G>A | CA5540308 | ADAMTS14 | c.3007G>A (p.Gly1003Arg) c.3016G>A (p.Gly1006Arg) c.2506G>A (p.Gly836Arg) c.2080G>A (p.Gly694Arg) c.*86G>A (n.*86G>A) c.1576G>A (p.Gly526Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70758031G>C | CA5540307 | ADAMTS14 | c.3007G>C (p.Gly1003Arg) c.3016G>C (p.Gly1006Arg) c.2506G>C (p.Gly836Arg) c.2080G>C (p.Gly694Arg) c.*86G>C (n.*86G>C) c.1576G>C (p.Gly526Arg) | dbSNP ExAC gnomAD v2 |
| 10 | g.70758031G= | CA1918399644 | ADAMTS14 | c.3007G= (p.Gly1003=) c.3016G= (p.Gly1006=) c.2506G= (p.Gly836=) c.2080G= (p.Gly694=) c.*86G= (n.*86G=) c.1576G= (p.Gly526=) | |
| 10 | g.70758031G>T | CA377108914 | ADAMTS14 | c.3007G>T (p.Gly1003Trp) c.3016G>T (p.Gly1006Trp) c.2506G>T (p.Gly836Trp) c.2080G>T (p.Gly694Trp) c.*86G>T (n.*86G>T) c.1576G>T (p.Gly526Trp) | |
| 10 | g.70758033del | CA2609526030 | ADAMTS14 | c.3009del (p.His1004IlefsTer27) c.3018del (p.His1007IlefsTer27) c.2508del (p.His837IlefsTer27) c.2082del (p.His695IlefsTer27) c.1578del (p.His527IlefsTer27) c.*88del (n.*88del) | gnomAD v4 |
| 10 | g.70758032G>A | CA377108915 | ADAMTS14 | c.3008G>A (p.Gly1003Glu) c.3017G>A (p.Gly1006Glu) c.2507G>A (p.Gly836Glu) c.2081G>A (p.Gly694Glu) c.*87G>A (n.*87G>A) c.1577G>A (p.Gly526Glu) | gnomAD v4 |
| 10 | g.70758032G>C | CA377108916 | ADAMTS14 | c.3008G>C (p.Gly1003Ala) c.3017G>C (p.Gly1006Ala) c.2507G>C (p.Gly836Ala) c.2081G>C (p.Gly694Ala) c.*87G>C (n.*87G>C) c.1577G>C (p.Gly526Ala) | |
| 10 | g.70758032G>T | CA377108917 | ADAMTS14 | c.3008G>T (p.Gly1003Val) c.3017G>T (p.Gly1006Val) c.2507G>T (p.Gly836Val) c.2081G>T (p.Gly694Val) c.*87G>T (n.*87G>T) c.1577G>T (p.Gly526Val) | |
| 10 | g.70758033G>A | CA470056225 | ADAMTS14 | c.3009G>A (p.Gly1003=) c.3018G>A (p.Gly1006=) c.2508G>A (p.Gly836=) c.2082G>A (p.Gly694=) c.1578G>A (p.Gly526=) c.*88G>A (n.*88G>A) | dbSNP |
| 10 | g.70758033G>C | CA470056226 | ADAMTS14 | c.3009G>C (p.Gly1003=) c.3018G>C (p.Gly1006=) c.2508G>C (p.Gly836=) c.2082G>C (p.Gly694=) c.1578G>C (p.Gly526=) c.*88G>C (n.*88G>C) | |
| 10 | g.70758033G= | CA1918399645 | ADAMTS14 | c.3009G= (p.Gly1003=) c.3018G= (p.Gly1006=) c.2508G= (p.Gly836=) c.2082G= (p.Gly694=) c.1578G= (p.Gly526=) c.*88G= (n.*88G=) | |
| 10 | g.70758033G>T | CA470056227 | ADAMTS14 | c.3009G>T (p.Gly1003=) c.3018G>T (p.Gly1006=) c.2508G>T (p.Gly836=) c.2082G>T (p.Gly694=) c.1578G>T (p.Gly526=) c.*88G>T (n.*88G>T) | |
| 10 | g.70758034C>A | CA377108918 | ADAMTS14 | c.3010C>A (p.His1004Asn) c.3019C>A (p.His1007Asn) c.2509C>A (p.His837Asn) c.2083C>A (p.His695Asn) c.1579C>A (p.His527Asn) c.*89C>A (n.*89C>A) | |
| 10 | g.70758034C>G | CA377108919 | ADAMTS14 | c.3010C>G (p.His1004Asp) c.3019C>G (p.His1007Asp) c.2509C>G (p.His837Asp) c.2083C>G (p.His695Asp) c.1579C>G (p.His527Asp) c.*89C>G (n.*89C>G) | |
| 10 | g.70758034C>T | CA377108920 | ADAMTS14 | c.3010C>T (p.His1004Tyr) c.3019C>T (p.His1007Tyr) c.2509C>T (p.His837Tyr) c.2083C>T (p.His695Tyr) c.1579C>T (p.His527Tyr) c.*89C>T (n.*89C>T) | |
| 10 | g.70758035A>C | CA377108921 | ADAMTS14 | c.3011A>C (p.His1004Pro) c.3020A>C (p.His1007Pro) c.2510A>C (p.His837Pro) c.2084A>C (p.His695Pro) c.1580A>C (p.His527Pro) c.*90A>C (n.*90A>C) | |
| 10 | g.70758035A>G | CA377108922 | ADAMTS14 | c.3011A>G (p.His1004Arg) c.3020A>G (p.His1007Arg) c.2510A>G (p.His837Arg) c.2084A>G (p.His695Arg) c.1580A>G (p.His527Arg) c.*90A>G (n.*90A>G) | gnomAD v4 |
| 10 | g.70758035A>T | CA377108923 | ADAMTS14 | c.3011A>T (p.His1004Leu) c.3020A>T (p.His1007Leu) c.2510A>T (p.His837Leu) c.2084A>T (p.His695Leu) c.1580A>T (p.His527Leu) c.*90A>T (n.*90A>T) | |
| 10 | g.70758036T>A | CA377108924 | ADAMTS14 | c.3012T>A (p.His1004Gln) c.3021T>A (p.His1007Gln) c.2511T>A (p.His837Gln) c.2085T>A (p.His695Gln) c.1581T>A (p.His527Gln) c.*91T>A (n.*91T>A) | |
| 10 | g.70758036T>C | CA470056228 | ADAMTS14 | c.3012T>C (p.His1004=) c.3021T>C (p.His1007=) c.2511T>C (p.His837=) c.2085T>C (p.His695=) c.1581T>C (p.His527=) c.*91T>C (n.*91T>C) | |
| 10 | g.70758036T>G | CA377108925 | ADAMTS14 | c.3012T>G (p.His1004Gln) c.3021T>G (p.His1007Gln) c.2511T>G (p.His837Gln) c.2085T>G (p.His695Gln) c.1581T>G (p.His527Gln) c.*91T>G (n.*91T>G) | |
| 10 | g.70758037T>A | CA377108927 | ADAMTS14 | c.3013T>A (p.Cys1005Ser) c.3022T>A (p.Cys1008Ser) c.2512T>A (p.Cys838Ser) c.2086T>A (p.Cys696Ser) c.1582T>A (p.Cys528Ser) c.*92T>A (n.*92T>A) | |
| 10 | g.70758037T>C | CA377108928 | ADAMTS14 | c.3013T>C (p.Cys1005Arg) c.3022T>C (p.Cys1008Arg) c.2512T>C (p.Cys838Arg) c.2086T>C (p.Cys696Arg) c.1582T>C (p.Cys528Arg) c.*92T>C (n.*92T>C) | gnomAD v4 |
| 10 | g.70758037T>G | CA377108926 | ADAMTS14 | c.3013T>G (p.Cys1005Gly) c.3022T>G (p.Cys1008Gly) c.2512T>G (p.Cys838Gly) c.2086T>G (p.Cys696Gly) c.1582T>G (p.Cys528Gly) c.*92T>G (n.*92T>G) | |
| 10 | g.70758038G>A | CA5540309 | ADAMTS14 | c.3014G>A (p.Cys1005Tyr) c.3023G>A (p.Cys1008Tyr) c.2513G>A (p.Cys838Tyr) c.2087G>A (p.Cys696Tyr) c.1583G>A (p.Cys528Tyr) c.*93G>A (n.*93G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758038G>C | CA377108929 | ADAMTS14 | c.3014G>C (p.Cys1005Ser) c.3023G>C (p.Cys1008Ser) c.2513G>C (p.Cys838Ser) c.2087G>C (p.Cys696Ser) c.1583G>C (p.Cys528Ser) c.*93G>C (n.*93G>C) | |
| 10 | g.70758038G= | CA1918399646 | ADAMTS14 | c.3014G= (p.Cys1005=) c.3023G= (p.Cys1008=) c.2513G= (p.Cys838=) c.2087G= (p.Cys696=) c.1583G= (p.Cys528=) c.*93G= (n.*93G=) | |
| 10 | g.70758038G>T | CA377108930 | ADAMTS14 | c.3014G>T (p.Cys1005Phe) c.3023G>T (p.Cys1008Phe) c.2513G>T (p.Cys838Phe) c.2087G>T (p.Cys696Phe) c.1583G>T (p.Cys528Phe) c.*93G>T (n.*93G>T) | |
| 10 | g.70758039C>A | CA377108931 | ADAMTS14 | c.3015C>A (p.Cys1005Ter) c.3024C>A (p.Cys1008Ter) c.2514C>A (p.Cys838Ter) c.2088C>A (p.Cys696Ter) c.1584C>A (p.Cys528Ter) c.*94C>A (n.*94C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70758039C= | CA1918399647 | ADAMTS14 | c.3015C= (p.Cys1005=) c.3024C= (p.Cys1008=) c.2514C= (p.Cys838=) c.2088C= (p.Cys696=) c.1584C= (p.Cys528=) c.*94C= (n.*94C=) | |
| 10 | g.70758039C>G | CA377108932 | ADAMTS14 | c.3015C>G (p.Cys1005Trp) c.3024C>G (p.Cys1008Trp) c.2514C>G (p.Cys838Trp) c.2088C>G (p.Cys696Trp) c.1584C>G (p.Cys528Trp) c.*94C>G (n.*94C>G) | |
| 10 | g.70758039C>T | CA5540310 | ADAMTS14 | c.3015C>T (p.Cys1005=) c.3024C>T (p.Cys1008=) c.2514C>T (p.Cys838=) c.2088C>T (p.Cys696=) c.1584C>T (p.Cys528=) c.*94C>T (n.*94C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70758040G>A | CA5540311 | ADAMTS14 | c.3016G>A (p.Glu1006Lys) c.3025G>A (p.Glu1009Lys) c.2515G>A (p.Glu839Lys) c.2089G>A (p.Glu697Lys) c.1585G>A (p.Glu529Lys) c.*95G>A (n.*95G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70758040G>C | CA377108934 | ADAMTS14 | c.3016G>C (p.Glu1006Gln) c.3025G>C (p.Glu1009Gln) c.2515G>C (p.Glu839Gln) c.2089G>C (p.Glu697Gln) c.1585G>C (p.Glu529Gln) c.*95G>C (n.*95G>C) | COSMIC |
| 10 | g.70758040G= | CA1918399648 | ADAMTS14 | c.3016G= (p.Glu1006=) c.3025G= (p.Glu1009=) c.2515G= (p.Glu839=) c.2089G= (p.Glu697=) c.1585G= (p.Glu529=) c.*95G= (n.*95G=) | |
| 10 | g.70758040G>T | CA377108933 | ADAMTS14 | c.3016G>T (p.Glu1006Ter) c.3025G>T (p.Glu1009Ter) c.2515G>T (p.Glu839Ter) c.2089G>T (p.Glu697Ter) c.1585G>T (p.Glu529Ter) c.*95G>T (n.*95G>T) | gnomAD v4 |
| 10 | g.70758041A>C | CA377108935 | ADAMTS14 | c.3017A>C (p.Glu1006Ala) c.3026A>C (p.Glu1009Ala) c.2516A>C (p.Glu839Ala) c.2090A>C (p.Glu697Ala) c.1586A>C (p.Glu529Ala) | |
| 10 | g.70758041A>G | CA377108936 | ADAMTS14 | c.3017A>G (p.Glu1006Gly) c.3026A>G (p.Glu1009Gly) c.2516A>G (p.Glu839Gly) c.2090A>G (p.Glu697Gly) c.1586A>G (p.Glu529Gly) | |
| 10 | g.70758041A>T | CA377108937 | ADAMTS14 | c.3017A>T (p.Glu1006Val) c.3026A>T (p.Glu1009Val) c.2516A>T (p.Glu839Val) c.2090A>T (p.Glu697Val) c.1586A>T (p.Glu529Val) | |
| 10 | g.70758042G>A | CA470056230 | ADAMTS14 | c.3018G>A (p.Glu1006=) c.3027G>A (p.Glu1009=) c.2517G>A (p.Glu839=) c.2091G>A (p.Glu697=) c.1587G>A (p.Glu529=) | |
| 10 | g.70758042G>C | CA377108938 | ADAMTS14 | c.3018G>C (p.Glu1006Asp) c.3027G>C (p.Glu1009Asp) c.2517G>C (p.Glu839Asp) c.2091G>C (p.Glu697Asp) c.1587G>C (p.Glu529Asp) | |
| 10 | g.70758042G= | CA1918399649 | ADAMTS14 | c.3018G= (p.Glu1006=) c.3027G= (p.Glu1009=) c.2517G= (p.Glu839=) c.2091G= (p.Glu697=) c.1587G= (p.Glu529=) | |
| 10 | g.70758042G>T | CA5540312 | ADAMTS14 | c.3018G>T (p.Glu1006Asp) c.3027G>T (p.Glu1009Asp) c.2517G>T (p.Glu839Asp) c.2091G>T (p.Glu697Asp) c.1587G>T (p.Glu529Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70758046dup | CA2609526046 | ADAMTS14 | c.3022dup (p.Asp1008GlyfsTer2) c.3031dup (p.Asp1011GlyfsTer2) c.2521dup (p.Asp841GlyfsTer2) c.2095dup (p.Asp699GlyfsTer2) c.1591dup (p.Asp531GlyfsTer2) | gnomAD v4 |