UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |