Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.70757989del | CA2839081435 | ADAMTS14 | c.2965del (p.Gln989SerfsTer?) c.2974del (p.Gln992SerfsTer?) c.2464del (p.Gln822SerfsTer?) c.2038del (p.Gln680SerfsTer?) c.*44del (n.*44del) c.1534del (p.Gln512SerfsTer?) | |
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 |
10 | g.70758043G>A | CA377108941 | ADAMTS14 | c.3019G>A (p.Gly1007Arg) c.3028G>A (p.Gly1010Arg) c.2518G>A (p.Gly840Arg) c.2092G>A (p.Gly698Arg) c.1588G>A (p.Gly530Arg) | gnomAD v4 |
10 | g.70758043G>C | CA377108940 | ADAMTS14 | c.3019G>C (p.Gly1007Arg) c.3028G>C (p.Gly1010Arg) c.2518G>C (p.Gly840Arg) c.2092G>C (p.Gly698Arg) c.1588G>C (p.Gly530Arg) | |
10 | g.70758043G>T | CA377108939 | ADAMTS14 | c.3019G>T (p.Gly1007Trp) c.3028G>T (p.Gly1010Trp) c.2518G>T (p.Gly840Trp) c.2092G>T (p.Gly698Trp) c.1588G>T (p.Gly530Trp) | COSMIC COSMIC |
10 | g.70758044G>A | CA377108943 | ADAMTS14 | c.3020G>A (p.Gly1007Glu) c.3029G>A (p.Gly1010Glu) c.2519G>A (p.Gly840Glu) c.2093G>A (p.Gly698Glu) c.1589G>A (p.Gly530Glu) | |
10 | g.70758044G>C | CA377108942 | ADAMTS14 | c.3020G>C (p.Gly1007Ala) c.3029G>C (p.Gly1010Ala) c.2519G>C (p.Gly840Ala) c.2093G>C (p.Gly698Ala) c.1589G>C (p.Gly530Ala) | |
10 | g.70758044G>T | CA377108944 | ADAMTS14 | c.3020G>T (p.Gly1007Val) c.3029G>T (p.Gly1010Val) c.2519G>T (p.Gly840Val) c.2093G>T (p.Gly698Val) c.1589G>T (p.Gly530Val) | |
10 | g.70758045G>A | CA470056232 | ADAMTS14 | c.3021G>A (p.Gly1007=) c.3030G>A (p.Gly1010=) c.2520G>A (p.Gly840=) c.2094G>A (p.Gly698=) c.1590G>A (p.Gly530=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758045G>C | CA470056233 | ADAMTS14 | c.3021G>C (p.Gly1007=) c.3030G>C (p.Gly1010=) c.2520G>C (p.Gly840=) c.2094G>C (p.Gly698=) c.1590G>C (p.Gly530=) | |
10 | g.70758045G= | CA1918399650 | ADAMTS14 | c.3021G= (p.Gly1007=) c.3030G= (p.Gly1010=) c.2520G= (p.Gly840=) c.2094G= (p.Gly698=) c.1590G= (p.Gly530=) | |
10 | g.70758045G>T | CA470056234 | ADAMTS14 | c.3021G>T (p.Gly1007=) c.3030G>T (p.Gly1010=) c.2520G>T (p.Gly840=) c.2094G>T (p.Gly698=) c.1590G>T (p.Gly530=) | |
10 | g.70758046G>A | CA209415974 | ADAMTS14 | c.3022G>A (p.Asp1008Asn) c.3031G>A (p.Asp1011Asn) c.2521G>A (p.Asp841Asn) c.2095G>A (p.Asp699Asn) c.1591G>A (p.Asp531Asn) | dbSNP |
10 | g.70758046G>C | CA377108945 | ADAMTS14 | c.3022G>C (p.Asp1008His) c.3031G>C (p.Asp1011His) c.2521G>C (p.Asp841His) c.2095G>C (p.Asp699His) c.1591G>C (p.Asp531His) | |
10 | g.70758046G= | CA1918399651 | ADAMTS14 | c.3022G= (p.Asp1008=) c.3031G= (p.Asp1011=) c.2521G= (p.Asp841=) c.2095G= (p.Asp699=) c.1591G= (p.Asp531=) | |
10 | g.70758046G>T | CA377108946 | ADAMTS14 | c.3022G>T (p.Asp1008Tyr) c.3031G>T (p.Asp1011Tyr) c.2521G>T (p.Asp841Tyr) c.2095G>T (p.Asp699Tyr) c.1591G>T (p.Asp531Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758047A= | CA1918399652 | ADAMTS14 | c.3023A= (p.Asp1008=) c.3032A= (p.Asp1011=) c.2522A= (p.Asp841=) c.2096A= (p.Asp699=) c.1592A= (p.Asp531=) | |
10 | g.70758047A>C | CA377108947 | ADAMTS14 | c.3023A>C (p.Asp1008Ala) c.3032A>C (p.Asp1011Ala) c.2522A>C (p.Asp841Ala) c.2096A>C (p.Asp699Ala) c.1592A>C (p.Asp531Ala) | |
10 | g.70758047A>G | CA377108948 | ADAMTS14 | c.3023A>G (p.Asp1008Gly) c.3032A>G (p.Asp1011Gly) c.2522A>G (p.Asp841Gly) c.2096A>G (p.Asp699Gly) c.1592A>G (p.Asp531Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758047A>T | CA377108949 | ADAMTS14 | c.3023A>T (p.Asp1008Val) c.3032A>T (p.Asp1011Val) c.2522A>T (p.Asp841Val) c.2096A>T (p.Asp699Val) c.1592A>T (p.Asp531Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.70758048T>A | CA377108950 | ADAMTS14 | c.3024T>A (p.Asp1008Glu) c.3033T>A (p.Asp1011Glu) c.2523T>A (p.Asp841Glu) c.2097T>A (p.Asp699Glu) c.1593T>A (p.Asp531Glu) | |
10 | g.70758048T>C | CA470056238 | ADAMTS14 | c.3024T>C (p.Asp1008=) c.3033T>C (p.Asp1011=) c.2523T>C (p.Asp841=) c.2097T>C (p.Asp699=) c.1593T>C (p.Asp531=) | |
10 | g.70758048T>G | CA377108951 | ADAMTS14 | c.3024T>G (p.Asp1008Glu) c.3033T>G (p.Asp1011Glu) c.2523T>G (p.Asp841Glu) c.2097T>G (p.Asp699Glu) c.1593T>G (p.Asp531Glu) | |
10 | g.70758049A>C | CA470056239 | ADAMTS14 | c.3025A>C (p.Arg1009=) c.3034A>C (p.Arg1012=) c.2524A>C (p.Arg842=) c.2098A>C (p.Arg700=) c.1594A>C (p.Arg532=) | |
10 | g.70758049A>G | CA377108952 | ADAMTS14 | c.3025A>G (p.Arg1009Gly) c.3034A>G (p.Arg1012Gly) c.2524A>G (p.Arg842Gly) c.2098A>G (p.Arg700Gly) c.1594A>G (p.Arg532Gly) | |
10 | g.70758049A>T | CA377108953 | ADAMTS14 | c.3025A>T (p.Arg1009Trp) c.3034A>T (p.Arg1012Trp) c.2524A>T (p.Arg842Trp) c.2098A>T (p.Arg700Trp) c.1594A>T (p.Arg532Trp) | |
10 | g.70758050G>A | CA377108954 | ADAMTS14 | c.3026G>A (p.Arg1009Lys) c.3035G>A (p.Arg1012Lys) c.2525G>A (p.Arg842Lys) c.2099G>A (p.Arg700Lys) c.1595G>A (p.Arg532Lys) | |
10 | g.70758050G>C | CA377108955 | ADAMTS14 | c.3026G>C (p.Arg1009Thr) c.3035G>C (p.Arg1012Thr) c.2525G>C (p.Arg842Thr) c.2099G>C (p.Arg700Thr) c.1595G>C (p.Arg532Thr) | |
10 | g.70758050G>T | CA377108956 | ADAMTS14 | c.3026G>T (p.Arg1009Met) c.3035G>T (p.Arg1012Met) c.2525G>T (p.Arg842Met) c.2099G>T (p.Arg700Met) c.1595G>T (p.Arg532Met) | |
10 | g.70758051G>A | CA209415977 | ADAMTS14 | c.3027G>A (p.Arg1009=) c.3036G>A (p.Arg1012=) c.2526G>A (p.Arg842=) c.2100G>A (p.Arg700=) c.1596G>A (p.Arg532=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758051G>C | CA377108957 | ADAMTS14 | c.3027G>C (p.Arg1009Ser) c.3036G>C (p.Arg1012Ser) c.2526G>C (p.Arg842Ser) c.2100G>C (p.Arg700Ser) c.1596G>C (p.Arg532Ser) | |
10 | g.70758051G= | CA1918399653 | ADAMTS14 | c.3027G= (p.Arg1009=) c.3036G= (p.Arg1012=) c.2526G= (p.Arg842=) c.2100G= (p.Arg700=) c.1596G= (p.Arg532=) | |
10 | g.70758051G>T | CA377108958 | ADAMTS14 | c.3027G>T (p.Arg1009Ser) c.3036G>T (p.Arg1012Ser) c.2526G>T (p.Arg842Ser) c.2100G>T (p.Arg700Ser) c.1596G>T (p.Arg532Ser) | |
10 | g.70758052C>A | CA377108959 | ADAMTS14 | c.3028C>A (p.Pro1010Thr) c.3037C>A (p.Pro1013Thr) c.2527C>A (p.Pro843Thr) c.2101C>A (p.Pro701Thr) c.1597C>A (p.Pro533Thr) | gnomAD v4 |
10 | g.70758052C= | CA1918399654 | ADAMTS14 | c.3028C= (p.Pro1010=) c.3037C= (p.Pro1013=) c.2527C= (p.Pro843=) c.2101C= (p.Pro701=) c.1597C= (p.Pro533=) | |
10 | g.70758052C>G | CA377108960 | ADAMTS14 | c.3028C>G (p.Pro1010Ala) c.3037C>G (p.Pro1013Ala) c.2527C>G (p.Pro843Ala) c.2101C>G (p.Pro701Ala) c.1597C>G (p.Pro533Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758052C>T | CA377108961 | ADAMTS14 | c.3028C>T (p.Pro1010Ser) c.3037C>T (p.Pro1013Ser) c.2527C>T (p.Pro843Ser) c.2101C>T (p.Pro701Ser) c.1597C>T (p.Pro533Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.70758053C>A | CA377108962 | ADAMTS14 | c.3029C>A (p.Pro1010Gln) c.3038C>A (p.Pro1013Gln) c.2528C>A (p.Pro843Gln) c.2102C>A (p.Pro701Gln) c.1598C>A (p.Pro533Gln) | |
10 | g.70758053C>G | CA377108963 | ADAMTS14 | c.3029C>G (p.Pro1010Arg) c.3038C>G (p.Pro1013Arg) c.2528C>G (p.Pro843Arg) c.2102C>G (p.Pro701Arg) c.1598C>G (p.Pro533Arg) | |
10 | g.70758053C>T | CA377108964 | ADAMTS14 | c.3029C>T (p.Pro1010Leu) c.3038C>T (p.Pro1013Leu) c.2528C>T (p.Pro843Leu) c.2102C>T (p.Pro701Leu) c.1598C>T (p.Pro533Leu) | |
10 | g.70758054A>C | CA470056243 | ADAMTS14 | c.3030A>C (p.Pro1010=) c.3039A>C (p.Pro1013=) c.2529A>C (p.Pro843=) c.2103A>C (p.Pro701=) c.1599A>C (p.Pro533=) | gnomAD v4 |
10 | g.70758054A>G | CA470056244 | ADAMTS14 | c.3030A>G (p.Pro1010=) c.3039A>G (p.Pro1013=) c.2529A>G (p.Pro843=) c.2103A>G (p.Pro701=) c.1599A>G (p.Pro533=) | |
10 | g.70758054A>T | CA470056245 | ADAMTS14 | c.3030A>T (p.Pro1010=) c.3039A>T (p.Pro1013=) c.2529A>T (p.Pro843=) c.2103A>T (p.Pro701=) c.1599A>T (p.Pro533=) | |
10 | g.70758055G>A | CA377108965 | ADAMTS14 | c.3031G>A (p.Asp1011Asn) c.3040G>A (p.Asp1014Asn) c.2530G>A (p.Asp844Asn) c.2104G>A (p.Asp702Asn) c.1600G>A (p.Asp534Asn) | |
10 | g.70758055G>C | CA5540313 | ADAMTS14 | c.3031G>C (p.Asp1011His) c.3040G>C (p.Asp1014His) c.2530G>C (p.Asp844His) c.2104G>C (p.Asp702His) c.1600G>C (p.Asp534His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758055G= | CA1918399655 | ADAMTS14 | c.3031G= (p.Asp1011=) c.3040G= (p.Asp1014=) c.2530G= (p.Asp844=) c.2104G= (p.Asp702=) c.1600G= (p.Asp534=) | |
10 | g.70758055G>T | CA377108966 | ADAMTS14 | c.3031G>T (p.Asp1011Tyr) c.3040G>T (p.Asp1014Tyr) c.2530G>T (p.Asp844Tyr) c.2104G>T (p.Asp702Tyr) c.1600G>T (p.Asp534Tyr) | |
10 | g.70758056A>C | CA377108967 | ADAMTS14 | c.3032A>C (p.Asp1011Ala) c.3041A>C (p.Asp1014Ala) c.2531A>C (p.Asp844Ala) c.2105A>C (p.Asp702Ala) c.1601A>C (p.Asp534Ala) | |
10 | g.70758056A>G | CA377108968 | ADAMTS14 | c.3032A>G (p.Asp1011Gly) c.3041A>G (p.Asp1014Gly) c.2531A>G (p.Asp844Gly) c.2105A>G (p.Asp702Gly) c.1601A>G (p.Asp534Gly) | |
10 | g.70758056A>T | CA377108969 | ADAMTS14 | c.3032A>T (p.Asp1011Val) c.3041A>T (p.Asp1014Val) c.2531A>T (p.Asp844Val) c.2105A>T (p.Asp702Val) c.1601A>T (p.Asp534Val) | |
10 | g.70758057C>A | CA377108971 | ADAMTS14 | c.3033C>A (p.Asp1011Glu) c.3042C>A (p.Asp1014Glu) c.2532C>A (p.Asp844Glu) c.2106C>A (p.Asp702Glu) c.1602C>A (p.Asp534Glu) | |
10 | g.70758057C>G | CA377108970 | ADAMTS14 | c.3033C>G (p.Asp1011Glu) c.3042C>G (p.Asp1014Glu) c.2532C>G (p.Asp844Glu) c.2106C>G (p.Asp702Glu) c.1602C>G (p.Asp534Glu) | |
10 | g.70758057C>T | CA470056247 | ADAMTS14 | c.3033C>T (p.Asp1011=) c.3042C>T (p.Asp1014=) c.2532C>T (p.Asp844=) c.2106C>T (p.Asp702=) c.1602C>T (p.Asp534=) | |
10 | g.70758058A= | CA1918399656 | ADAMTS14 | c.3034A= (p.Thr1012=) c.3043A= (p.Thr1015=) c.2533A= (p.Thr845=) c.2107A= (p.Thr703=) c.1603A= (p.Thr535=) | |
10 | g.70758058A>C | CA377108972 | ADAMTS14 | c.3034A>C (p.Thr1012Pro) c.3043A>C (p.Thr1015Pro) c.2533A>C (p.Thr845Pro) c.2107A>C (p.Thr703Pro) c.1603A>C (p.Thr535Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758058A>G | CA5540314 | ADAMTS14 | c.3034A>G (p.Thr1012Ala) c.3043A>G (p.Thr1015Ala) c.2533A>G (p.Thr845Ala) c.2107A>G (p.Thr703Ala) c.1603A>G (p.Thr535Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758058A>T | CA377108973 | ADAMTS14 | c.3034A>T (p.Thr1012Ser) c.3043A>T (p.Thr1015Ser) c.2533A>T (p.Thr845Ser) c.2107A>T (p.Thr703Ser) c.1603A>T (p.Thr535Ser) | |
10 | g.70758059C>A | CA377108974 | ADAMTS14 | c.3035C>A (p.Thr1012Asn) c.3044C>A (p.Thr1015Asn) c.2534C>A (p.Thr845Asn) c.2108C>A (p.Thr703Asn) c.1604C>A (p.Thr535Asn) | |
10 | g.70758059C>G | CA377108975 | ADAMTS14 | c.3035C>G (p.Thr1012Ser) c.3044C>G (p.Thr1015Ser) c.2534C>G (p.Thr845Ser) c.2108C>G (p.Thr703Ser) c.1604C>G (p.Thr535Ser) | |
10 | g.70758059C>T | CA377108976 | ADAMTS14 | c.3035C>T (p.Thr1012Ile) c.3044C>T (p.Thr1015Ile) c.2534C>T (p.Thr845Ile) c.2108C>T (p.Thr703Ile) c.1604C>T (p.Thr535Ile) | gnomAD v4 |
10 | g.70758060T>A | CA470056250 | ADAMTS14 | c.3036T>A (p.Thr1012=) c.3045T>A (p.Thr1015=) c.2535T>A (p.Thr845=) c.2109T>A (p.Thr703=) c.1605T>A (p.Thr535=) | |
10 | g.70758060T>C | CA470056251 | ADAMTS14 | c.3036T>C (p.Thr1012=) c.3045T>C (p.Thr1015=) c.2535T>C (p.Thr845=) c.2109T>C (p.Thr703=) c.1605T>C (p.Thr535=) | |
10 | g.70758060T>G | CA470056248 | ADAMTS14 | c.3036T>G (p.Thr1012=) c.3045T>G (p.Thr1015=) c.2535T>G (p.Thr845=) c.2109T>G (p.Thr703=) c.1605T>G (p.Thr535=) | |
10 | g.70758061G>A | CA377108977 | ADAMTS14 | c.3037G>A (p.Val1013Ile) c.3046G>A (p.Val1016Ile) c.2536G>A (p.Val846Ile) c.2110G>A (p.Val704Ile) c.1606G>A (p.Val536Ile) | |
10 | g.70758061G>C | CA209415987 | ADAMTS14 | c.3037G>C (p.Val1013Leu) c.3046G>C (p.Val1016Leu) c.2536G>C (p.Val846Leu) c.2110G>C (p.Val704Leu) c.1606G>C (p.Val536Leu) | dbSNP |
10 | g.70758061G= | CA1918399657 | ADAMTS14 | c.3037G= (p.Val1013=) c.3046G= (p.Val1016=) c.2536G= (p.Val846=) c.2110G= (p.Val704=) c.1606G= (p.Val536=) | |
10 | g.70758061G>T | CA377108978 | ADAMTS14 | c.3037G>T (p.Val1013Phe) c.3046G>T (p.Val1016Phe) c.2536G>T (p.Val846Phe) c.2110G>T (p.Val704Phe) c.1606G>T (p.Val536Phe) | |
10 | g.70758062T>A | CA377108979 | ADAMTS14 | c.3038T>A (p.Val1013Asp) c.3047T>A (p.Val1016Asp) c.2537T>A (p.Val846Asp) c.2111T>A (p.Val704Asp) c.1607T>A (p.Val536Asp) | |
10 | g.70758062T>C | CA377108980 | ADAMTS14 | c.3038T>C (p.Val1013Ala) c.3047T>C (p.Val1016Ala) c.2537T>C (p.Val846Ala) c.2111T>C (p.Val704Ala) c.1607T>C (p.Val536Ala) | |
10 | g.70758062T>G | CA377108981 | ADAMTS14 | c.3038T>G (p.Val1013Gly) c.3047T>G (p.Val1016Gly) c.2537T>G (p.Val846Gly) c.2111T>G (p.Val704Gly) c.1607T>G (p.Val536Gly) | |
10 | g.70758063C>A | CA470056255 | ADAMTS14 | c.3039C>A (p.Val1013=) c.3048C>A (p.Val1016=) c.2538C>A (p.Val846=) c.2112C>A (p.Val704=) c.1608C>A (p.Val536=) | |
10 | g.70758063C>G | CA470056253 | ADAMTS14 | c.3039C>G (p.Val1013=) c.3048C>G (p.Val1016=) c.2538C>G (p.Val846=) c.2112C>G (p.Val704=) c.1608C>G (p.Val536=) | |
10 | g.70758063C>T | CA470056254 | ADAMTS14 | c.3039C>T (p.Val1013=) c.3048C>T (p.Val1016=) c.2538C>T (p.Val846=) c.2112C>T (p.Val704=) c.1608C>T (p.Val536=) | gnomAD v4 |
10 | g.70758064C>A | CA377108983 | ADAMTS14 | c.3040C>A (p.Gln1014Lys) c.3049C>A (p.Gln1017Lys) c.2539C>A (p.Gln847Lys) c.2113C>A (p.Gln705Lys) c.1609C>A (p.Gln537Lys) | |
10 | g.70758064C= | CA1918399658 | ADAMTS14 | c.3040C= (p.Gln1014=) c.3049C= (p.Gln1017=) c.2539C= (p.Gln847=) c.2113C= (p.Gln705=) c.1609C= (p.Gln537=) | |
10 | g.70758064C>G | CA377108984 | ADAMTS14 | c.3040C>G (p.Gln1014Glu) c.3049C>G (p.Gln1017Glu) c.2539C>G (p.Gln847Glu) c.2113C>G (p.Gln705Glu) c.1609C>G (p.Gln537Glu) | |
10 | g.70758064C>T | CA377108982 | ADAMTS14 | c.3040C>T (p.Gln1014Ter) c.3049C>T (p.Gln1017Ter) c.2539C>T (p.Gln847Ter) c.2113C>T (p.Gln705Ter) c.1609C>T (p.Gln537Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.70758065A= | CA1918399659 | ADAMTS14 | c.3041A= (p.Gln1014=) c.3050A= (p.Gln1017=) c.2540A= (p.Gln847=) c.2114A= (p.Gln705=) c.1610A= (p.Gln537=) | |
10 | g.70758065A>C | CA377108985 | ADAMTS14 | c.3041A>C (p.Gln1014Pro) c.3050A>C (p.Gln1017Pro) c.2540A>C (p.Gln847Pro) c.2114A>C (p.Gln705Pro) c.1610A>C (p.Gln537Pro) | |
10 | g.70758065A>G | CA377108986 | ADAMTS14 | c.3041A>G (p.Gln1014Arg) c.3050A>G (p.Gln1017Arg) c.2540A>G (p.Gln847Arg) c.2114A>G (p.Gln705Arg) c.1610A>G (p.Gln537Arg) | |
10 | g.70758065A>T | CA5540315 | ADAMTS14 | c.3041A>T (p.Gln1014Leu) c.3050A>T (p.Gln1017Leu) c.2540A>T (p.Gln847Leu) c.2114A>T (p.Gln705Leu) c.1610A>T (p.Gln537Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.70758066G>A | CA470056256 | ADAMTS14 | c.3042G>A (p.Gln1014=) c.3051G>A (p.Gln1017=) c.2541G>A (p.Gln847=) c.2115G>A (p.Gln705=) c.1611G>A (p.Gln537=) | gnomAD v4 |
10 | g.70758066G>C | CA377108987 | ADAMTS14 | c.3042G>C (p.Gln1014His) c.3051G>C (p.Gln1017His) c.2541G>C (p.Gln847His) c.2115G>C (p.Gln705His) c.1611G>C (p.Gln537His) | |
10 | g.70758066G>T | CA377108988 | ADAMTS14 | c.3042G>T (p.Gln1014His) c.3051G>T (p.Gln1017His) c.2541G>T (p.Gln847His) c.2115G>T (p.Gln705His) c.1611G>T (p.Gln537His) | |
10 | g.70758067G>A | CA377108991 | ADAMTS14 | c.3043G>A (p.Val1015Ile) c.3052G>A (p.Val1018Ile) c.2542G>A (p.Val848Ile) c.2116G>A (p.Val706Ile) c.1612G>A (p.Val538Ile) | |
10 | g.70758067G>C | CA377108989 | ADAMTS14 | c.3043G>C (p.Val1015Leu) c.3052G>C (p.Val1018Leu) c.2542G>C (p.Val848Leu) c.2116G>C (p.Val706Leu) c.1612G>C (p.Val538Leu) | |
10 | g.70758067G>T | CA377108990 | ADAMTS14 | c.3043G>T (p.Val1015Phe) c.3052G>T (p.Val1018Phe) c.2542G>T (p.Val848Phe) c.2116G>T (p.Val706Phe) c.1612G>T (p.Val538Phe) | |
10 | g.70758068T>A | CA377108992 | ADAMTS14 | c.3044T>A (p.Val1015Asp) c.3053T>A (p.Val1018Asp) c.2543T>A (p.Val848Asp) c.2117T>A (p.Val706Asp) c.1613T>A (p.Val538Asp) | |
10 | g.70758068T>C | CA377108993 | ADAMTS14 | c.3044T>C (p.Val1015Ala) c.3053T>C (p.Val1018Ala) c.2543T>C (p.Val848Ala) c.2117T>C (p.Val706Ala) c.1613T>C (p.Val538Ala) | |
10 | g.70758068T>G | CA377108994 | ADAMTS14 | c.3044T>G (p.Val1015Gly) c.3053T>G (p.Val1018Gly) c.2543T>G (p.Val848Gly) c.2117T>G (p.Val706Gly) c.1613T>G (p.Val538Gly) | |
10 | g.70758069C>A | CA470056258 | ADAMTS14 | c.3045C>A (p.Val1015=) c.3054C>A (p.Val1018=) c.2544C>A (p.Val848=) c.2118C>A (p.Val706=) c.1614C>A (p.Val538=) | gnomAD v4 |
10 | g.70758069C>G | CA470056259 | ADAMTS14 | c.3045C>G (p.Val1015=) c.3054C>G (p.Val1018=) c.2544C>G (p.Val848=) c.2118C>G (p.Val706=) c.1614C>G (p.Val538=) | |
10 | g.70758069C>T | CA470056260 | ADAMTS14 | c.3045C>T (p.Val1015=) c.3054C>T (p.Val1018=) c.2544C>T (p.Val848=) c.2118C>T (p.Val706=) c.1614C>T (p.Val538=) | |
10 | g.70758070T>A | CA377108995 | ADAMTS14 | c.3046T>A (p.Cys1016Ser) c.3055T>A (p.Cys1019Ser) c.2545T>A (p.Cys849Ser) c.2119T>A (p.Cys707Ser) c.1615T>A (p.Cys539Ser) | |
10 | g.70758070T>C | CA377108996 | ADAMTS14 | c.3046T>C (p.Cys1016Arg) c.3055T>C (p.Cys1019Arg) c.2545T>C (p.Cys849Arg) c.2119T>C (p.Cys707Arg) c.1615T>C (p.Cys539Arg) | gnomAD v4 |
10 | g.70758070T>G | CA377108997 | ADAMTS14 | c.3046T>G (p.Cys1016Gly) c.3055T>G (p.Cys1019Gly) c.2545T>G (p.Cys849Gly) c.2119T>G (p.Cys707Gly) c.1615T>G (p.Cys539Gly) | |
10 | g.70758071G>A | CA377108999 | ADAMTS14 | c.3047G>A (p.Cys1016Tyr) c.3056G>A (p.Cys1019Tyr) c.2546G>A (p.Cys849Tyr) c.2120G>A (p.Cys707Tyr) c.1616G>A (p.Cys539Tyr) | gnomAD v4 |
10 | g.70758071G>C | CA377109000 | ADAMTS14 | c.3047G>C (p.Cys1016Ser) c.3056G>C (p.Cys1019Ser) c.2546G>C (p.Cys849Ser) c.2120G>C (p.Cys707Ser) c.1616G>C (p.Cys539Ser) | |
10 | g.70758071G>T | CA377108998 | ADAMTS14 | c.3047G>T (p.Cys1016Phe) c.3056G>T (p.Cys1019Phe) c.2546G>T (p.Cys849Phe) c.2120G>T (p.Cys707Phe) c.1616G>T (p.Cys539Phe) | |
10 | g.70758072del | CA2839658635 | ADAMTS14 | c.3048del (p.Cys1016Ter) c.3057del (p.Cys1019Ter) c.2547del (p.Cys849Ter) c.2121del (p.Cys707Ter) c.1617del (p.Cys539Ter) | |
10 | g.70758072C>A | CA377109001 | ADAMTS14 | c.3048C>A (p.Cys1016Ter) c.3057C>A (p.Cys1019Ter) c.2547C>A (p.Cys849Ter) c.2121C>A (p.Cys707Ter) c.1617C>A (p.Cys539Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.70758072C= | CA1918399660 | ADAMTS14 | c.3048C= (p.Cys1016=) c.3057C= (p.Cys1019=) c.2547C= (p.Cys849=) c.2121C= (p.Cys707=) c.1617C= (p.Cys539=) | |
10 | g.70758072C>G | CA377109002 | ADAMTS14 | c.3048C>G (p.Cys1016Trp) c.3057C>G (p.Cys1019Trp) c.2547C>G (p.Cys849Trp) c.2121C>G (p.Cys707Trp) c.1617C>G (p.Cys539Trp) | |
10 | g.70758072C>T | CA470056262 | ADAMTS14 | c.3048C>T (p.Cys1016=) c.3057C>T (p.Cys1019=) c.2547C>T (p.Cys849=) c.2121C>T (p.Cys707=) c.1617C>T (p.Cys539=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758073A>C | CA377109003 | ADAMTS14 | c.3049A>C (p.Ser1017Arg) c.3058A>C (p.Ser1020Arg) c.2548A>C (p.Ser850Arg) c.2122A>C (p.Ser708Arg) c.1618A>C (p.Ser540Arg) | gnomAD v4 |
10 | g.70758073A>G | CA377109005 | ADAMTS14 | c.3049A>G (p.Ser1017Gly) c.3058A>G (p.Ser1020Gly) c.2548A>G (p.Ser850Gly) c.2122A>G (p.Ser708Gly) c.1618A>G (p.Ser540Gly) | |
10 | g.70758073A>T | CA377109004 | ADAMTS14 | c.3049A>T (p.Ser1017Cys) c.3058A>T (p.Ser1020Cys) c.2548A>T (p.Ser850Cys) c.2122A>T (p.Ser708Cys) c.1618A>T (p.Ser540Cys) | |
10 | g.70758073dup | CA2839658636 | ADAMTS14 | c.3049dup (p.Ser1017LysfsTer?) c.3058dup (p.Ser1020LysfsTer?) c.2548dup (p.Ser850LysfsTer?) c.2122dup (p.Ser708LysfsTer?) c.1618dup (p.Ser540LysfsTer?) | |
10 | g.70758074G>A | CA5540316 | ADAMTS14 | c.3050G>A (p.Ser1017Asn) c.3059G>A (p.Ser1020Asn) c.2549G>A (p.Ser850Asn) c.2123G>A (p.Ser708Asn) c.1619G>A (p.Ser540Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758074G>C | CA377109006 | ADAMTS14 | c.3050G>C (p.Ser1017Thr) c.3059G>C (p.Ser1020Thr) c.2549G>C (p.Ser850Thr) c.2123G>C (p.Ser708Thr) c.1619G>C (p.Ser540Thr) | dbSNP |
10 | g.70758074G= | CA1918399661 | ADAMTS14 | c.3050G= (p.Ser1017=) c.3059G= (p.Ser1020=) c.2549G= (p.Ser850=) c.2123G= (p.Ser708=) c.1619G= (p.Ser540=) | |
10 | g.70758074G>T | CA377109007 | ADAMTS14 | c.3050G>T (p.Ser1017Ile) c.3059G>T (p.Ser1020Ile) c.2549G>T (p.Ser850Ile) c.2123G>T (p.Ser708Ile) c.1619G>T (p.Ser540Ile) | COSMIC COSMIC |
10 | g.70758075C>A | CA209415998 | ADAMTS14 | c.3051C>A (p.Ser1017Arg) c.3060C>A (p.Ser1020Arg) c.2550C>A (p.Ser850Arg) c.2124C>A (p.Ser708Arg) c.1620C>A (p.Ser540Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758075C= | CA1918399662 | ADAMTS14 | c.3051C= (p.Ser1017=) c.3060C= (p.Ser1020=) c.2550C= (p.Ser850=) c.2124C= (p.Ser708=) c.1620C= (p.Ser540=) | |
10 | g.70758075C>G | CA377109008 | ADAMTS14 | c.3051C>G (p.Ser1017Arg) c.3060C>G (p.Ser1020Arg) c.2550C>G (p.Ser850Arg) c.2124C>G (p.Ser708Arg) c.1620C>G (p.Ser540Arg) | COSMIC |
10 | g.70758075C>T | CA470056263 | ADAMTS14 | c.3051C>T (p.Ser1017=) c.3060C>T (p.Ser1020=) c.2550C>T (p.Ser850=) c.2124C>T (p.Ser708=) c.1620C>T (p.Ser540=) | gnomAD v4 |
10 | g.70758076C>A | CA377109009 | ADAMTS14 | c.3052C>A (p.Leu1018Met) c.3061C>A (p.Leu1021Met) c.2551C>A (p.Leu851Met) c.2125C>A (p.Leu709Met) c.1621C>A (p.Leu541Met) | |
10 | g.70758076C>G | CA377109010 | ADAMTS14 | c.3052C>G (p.Leu1018Val) c.3061C>G (p.Leu1021Val) c.2551C>G (p.Leu851Val) c.2125C>G (p.Leu709Val) c.1621C>G (p.Leu541Val) | |
10 | g.70758076C>T | CA470056264 | ADAMTS14 | c.3052C>T (p.Leu1018=) c.3061C>T (p.Leu1021=) c.2551C>T (p.Leu851=) c.2125C>T (p.Leu709=) c.1621C>T (p.Leu541=) | |
10 | g.70758077T>A | CA377109011 | ADAMTS14 | c.3053T>A (p.Leu1018Gln) c.3062T>A (p.Leu1021Gln) c.2552T>A (p.Leu851Gln) c.2126T>A (p.Leu709Gln) c.1622T>A (p.Leu541Gln) | |
10 | g.70758077T>C | CA377109013 | ADAMTS14 | c.3053T>C (p.Leu1018Pro) c.3062T>C (p.Leu1021Pro) c.2552T>C (p.Leu851Pro) c.2126T>C (p.Leu709Pro) c.1622T>C (p.Leu541Pro) | |
10 | g.70758077T>G | CA377109012 | ADAMTS14 | c.3053T>G (p.Leu1018Arg) c.3062T>G (p.Leu1021Arg) c.2552T>G (p.Leu851Arg) c.2126T>G (p.Leu709Arg) c.1622T>G (p.Leu541Arg) | |
10 | g.70758078G>A | CA5540317 | ADAMTS14 | c.3054G>A (p.Leu1018=) c.3063G>A (p.Leu1021=) c.2553G>A (p.Leu851=) c.2127G>A (p.Leu709=) c.1623G>A (p.Leu541=) | dbSNP ExAC gnomAD v4 |
10 | g.70758078G>C | CA470056267 | ADAMTS14 | c.3054G>C (p.Leu1018=) c.3063G>C (p.Leu1021=) c.2553G>C (p.Leu851=) c.2127G>C (p.Leu709=) c.1623G>C (p.Leu541=) | |
10 | g.70758078G= | CA1918399663 | ADAMTS14 | c.3054G= (p.Leu1018=) c.3063G= (p.Leu1021=) c.2553G= (p.Leu851=) c.2127G= (p.Leu709=) c.1623G= (p.Leu541=) | |
10 | g.70758078G>T | CA470056268 | ADAMTS14 | c.3054G>T (p.Leu1018=) c.3063G>T (p.Leu1021=) c.2553G>T (p.Leu851=) c.2127G>T (p.Leu709=) c.1623G>T (p.Leu541=) | |
10 | g.70758081_70758084del | CA2609526117 | ADAMTS14 | c.3057_3060del (p.Ala1020ValfsTer10) c.3066_3069del (p.Ala1023ValfsTer10) c.2556_2559del (p.Ala853ValfsTer10) c.2130_2133del (p.Ala711ValfsTer10) c.1626_1629del (p.Ala543ValfsTer10) | gnomAD v4 |
10 | g.70758079C>A | CA209416011 | ADAMTS14 | c.3055C>A (p.Pro1019Thr) c.3064C>A (p.Pro1022Thr) c.2554C>A (p.Pro852Thr) c.2128C>A (p.Pro710Thr) c.1624C>A (p.Pro542Thr) | dbSNP gnomAD v4 |
10 | g.70758079C= | CA1918399664 | ADAMTS14 | c.3055C= (p.Pro1019=) c.3064C= (p.Pro1022=) c.2554C= (p.Pro852=) c.2128C= (p.Pro710=) c.1624C= (p.Pro542=) | |
10 | g.70758079C>G | CA377109014 | ADAMTS14 | c.3055C>G (p.Pro1019Ala) c.3064C>G (p.Pro1022Ala) c.2554C>G (p.Pro852Ala) c.2128C>G (p.Pro710Ala) c.1624C>G (p.Pro542Ala) | |
10 | g.70758079C>T | CA377109015 | ADAMTS14 | c.3055C>T (p.Pro1019Ser) c.3064C>T (p.Pro1022Ser) c.2554C>T (p.Pro852Ser) c.2128C>T (p.Pro710Ser) c.1624C>T (p.Pro542Ser) | |
10 | g.70758081dup | CA2842984011 | ADAMTS14 | c.3057dup (p.Ala1020ArgfsTer30) c.3066dup (p.Ala1023ArgfsTer30) c.2556dup (p.Ala853ArgfsTer30) c.2130dup (p.Ala711ArgfsTer30) c.1626dup (p.Ala543ArgfsTer30) | |
10 | g.70758080C>A | CA377109018 | ADAMTS14 | c.3056C>A (p.Pro1019His) c.3065C>A (p.Pro1022His) c.2555C>A (p.Pro852His) c.2129C>A (p.Pro710His) c.1625C>A (p.Pro542His) | |
10 | g.70758080C= | CA1918399665 | ADAMTS14 | c.3056C= (p.Pro1019=) c.3065C= (p.Pro1022=) c.2555C= (p.Pro852=) c.2129C= (p.Pro710=) c.1625C= (p.Pro542=) | |
10 | g.70758080C>G | CA377109016 | ADAMTS14 | c.3056C>G (p.Pro1019Arg) c.3065C>G (p.Pro1022Arg) c.2555C>G (p.Pro852Arg) c.2129C>G (p.Pro710Arg) c.1625C>G (p.Pro542Arg) | |
10 | g.70758080C>T | CA377109017 | ADAMTS14 | c.3056C>T (p.Pro1019Leu) c.3065C>T (p.Pro1022Leu) c.2555C>T (p.Pro852Leu) c.2129C>T (p.Pro710Leu) c.1625C>T (p.Pro542Leu) | |
10 | g.70758080_70758081insTG | CA5540318 | ADAMTS14 | c.3056_3057insTG (p.Cys1021ProfsTer11) c.3065_3066insTG (p.Cys1024ProfsTer11) c.2555_2556insTG (p.Cys854ProfsTer11) c.2129_2130insTG (p.Cys712ProfsTer11) c.1625_1626insTG (p.Cys544ProfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758081C>A | CA470056271 | ADAMTS14 | c.3057C>A (p.Pro1019=) c.3066C>A (p.Pro1022=) c.2556C>A (p.Pro852=) c.2130C>A (p.Pro710=) c.1626C>A (p.Pro542=) | |
10 | g.70758081C= | CA1918399666 | ADAMTS14 | c.3057C= (p.Pro1019=) c.3066C= (p.Pro1022=) c.2556C= (p.Pro852=) c.2130C= (p.Pro710=) c.1626C= (p.Pro542=) | |
10 | g.70758081C>G | CA470056270 | ADAMTS14 | c.3057C>G (p.Pro1019=) c.3066C>G (p.Pro1022=) c.2556C>G (p.Pro852=) c.2130C>G (p.Pro710=) c.1626C>G (p.Pro542=) | |
10 | g.70758081C>T | CA5540319 | ADAMTS14 | c.3057C>T (p.Pro1019=) c.3066C>T (p.Pro1022=) c.2556C>T (p.Pro852=) c.2130C>T (p.Pro710=) c.1626C>T (p.Pro542=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758081_70758082insCT | CA5540320 | ADAMTS14 | c.3057_3058insCT (p.Ala1020LeufsTer12) c.3066_3067insCT (p.Ala1023LeufsTer12) c.2556_2557insCT (p.Ala853LeufsTer12) c.2130_2131insCT (p.Ala711LeufsTer12) c.1626_1627insCT (p.Ala543LeufsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758082G>A | CA377109019 | ADAMTS14 | c.3058G>A (p.Ala1020Thr) c.3067G>A (p.Ala1023Thr) c.2557G>A (p.Ala853Thr) c.2131G>A (p.Ala711Thr) c.1627G>A (p.Ala543Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758082G>C | CA377109020 | ADAMTS14 | c.3058G>C (p.Ala1020Pro) c.3067G>C (p.Ala1023Pro) c.2557G>C (p.Ala853Pro) c.2131G>C (p.Ala711Pro) c.1627G>C (p.Ala543Pro) | |
10 | g.70758082G= | CA1918399667 | ADAMTS14 | c.3058G= (p.Ala1020=) c.3067G= (p.Ala1023=) c.2557G= (p.Ala853=) c.2131G= (p.Ala711=) c.1627G= (p.Ala543=) | |
10 | g.70758082G>T | CA377109021 | ADAMTS14 | c.3058G>T (p.Ala1020Ser) c.3067G>T (p.Ala1023Ser) c.2557G>T (p.Ala853Ser) c.2131G>T (p.Ala711Ser) c.1627G>T (p.Ala543Ser) | |
10 | g.70758083C>A | CA377109022 | ADAMTS14 | c.3059C>A (p.Ala1020Asp) c.3068C>A (p.Ala1023Asp) c.2558C>A (p.Ala853Asp) c.2132C>A (p.Ala711Asp) c.1628C>A (p.Ala543Asp) | gnomAD v4 |
10 | g.70758083C= | CA1918399668 | ADAMTS14 | c.3059C= (p.Ala1020=) c.3068C= (p.Ala1023=) c.2558C= (p.Ala853=) c.2132C= (p.Ala711=) c.1628C= (p.Ala543=) | |
10 | g.70758083C>G | CA5540321 | ADAMTS14 | c.3059C>G (p.Ala1020Gly) c.3068C>G (p.Ala1023Gly) c.2558C>G (p.Ala853Gly) c.2132C>G (p.Ala711Gly) c.1628C>G (p.Ala543Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758083C>T | CA209416027 | ADAMTS14 | c.3059C>T (p.Ala1020Val) c.3068C>T (p.Ala1023Val) c.2558C>T (p.Ala853Val) c.2132C>T (p.Ala711Val) c.1628C>T (p.Ala543Val) | dbSNP gnomAD v4 |
10 | g.70758084C>A | CA470056273 | ADAMTS14 | c.3060C>A (p.Ala1020=) c.3069C>A (p.Ala1023=) c.2559C>A (p.Ala853=) c.2133C>A (p.Ala711=) c.1629C>A (p.Ala543=) | gnomAD v4 |
10 | g.70758084C>G | CA470056275 | ADAMTS14 | c.3060C>G (p.Ala1020=) c.3069C>G (p.Ala1023=) c.2559C>G (p.Ala853=) c.2133C>G (p.Ala711=) c.1629C>G (p.Ala543=) | |
10 | g.70758084C>T | CA470056274 | ADAMTS14 | c.3060C>T (p.Ala1020=) c.3069C>T (p.Ala1023=) c.2559C>T (p.Ala853=) c.2133C>T (p.Ala711=) c.1629C>T (p.Ala543=) |