Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.70758030_70758073delCA2788451770ADAMTS14c.3006_3049del (p.Gly1003ProfsTer?)
c.3015_3058del (p.Gly1006ProfsTer?)
c.2505_2548del (p.Gly836ProfsTer?)
c.2079_2122del (p.Gly694ProfsTer?)
c.1575_1618del (p.Gly526ProfsTer?)
10g.70758039C>ACA377108931ADAMTS14c.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
10g.70758039C=CA1918399647ADAMTS14c.3015C= (p.Cys1005=)
c.3024C= (p.Cys1008=)
c.2514C= (p.Cys838=)
c.2088C= (p.Cys696=)
c.1584C= (p.Cys528=)
c.*94C= (n.*94C=)
10g.70758039C>GCA377108932ADAMTS14c.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)
10g.70758039C>TCA5540310ADAMTS14c.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
10g.70758040G>ACA5540311ADAMTS14c.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
10g.70758040G>CCA377108934ADAMTS14c.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
10g.70758040G=CA1918399648ADAMTS14c.3016G= (p.Glu1006=)
c.3025G= (p.Glu1009=)
c.2515G= (p.Glu839=)
c.2089G= (p.Glu697=)
c.1585G= (p.Glu529=)
c.*95G= (n.*95G=)
10g.70758040G>TCA377108933ADAMTS14c.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
10g.70758041A>CCA377108935ADAMTS14c.3017A>C (p.Glu1006Ala)
c.3026A>C (p.Glu1009Ala)
c.2516A>C (p.Glu839Ala)
c.2090A>C (p.Glu697Ala)
c.1586A>C (p.Glu529Ala)
10g.70758041A>GCA377108936ADAMTS14c.3017A>G (p.Glu1006Gly)
c.3026A>G (p.Glu1009Gly)
c.2516A>G (p.Glu839Gly)
c.2090A>G (p.Glu697Gly)
c.1586A>G (p.Glu529Gly)
10g.70758041A>TCA377108937ADAMTS14c.3017A>T (p.Glu1006Val)
c.3026A>T (p.Glu1009Val)
c.2516A>T (p.Glu839Val)
c.2090A>T (p.Glu697Val)
c.1586A>T (p.Glu529Val)
10g.70758042G>ACA470056230ADAMTS14c.3018G>A (p.Glu1006=)
c.3027G>A (p.Glu1009=)
c.2517G>A (p.Glu839=)
c.2091G>A (p.Glu697=)
c.1587G>A (p.Glu529=)
10g.70758042G>CCA377108938ADAMTS14c.3018G>C (p.Glu1006Asp)
c.3027G>C (p.Glu1009Asp)
c.2517G>C (p.Glu839Asp)
c.2091G>C (p.Glu697Asp)
c.1587G>C (p.Glu529Asp)
10g.70758042G=CA1918399649ADAMTS14c.3018G= (p.Glu1006=)
c.3027G= (p.Glu1009=)
c.2517G= (p.Glu839=)
c.2091G= (p.Glu697=)
c.1587G= (p.Glu529=)
10g.70758042G>TCA5540312ADAMTS14c.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
10g.70758046dupCA2609526046ADAMTS14c.3022dup (p.Asp1008GlyfsTer2)
c.3031dup (p.Asp1011GlyfsTer2)
c.2521dup (p.Asp841GlyfsTer2)
c.2095dup (p.Asp699GlyfsTer2)
c.1591dup (p.Asp531GlyfsTer2)
gnomAD v4
10g.70758043G>ACA377108941ADAMTS14c.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
10g.70758043G>CCA377108940ADAMTS14c.3019G>C (p.Gly1007Arg)
c.3028G>C (p.Gly1010Arg)
c.2518G>C (p.Gly840Arg)
c.2092G>C (p.Gly698Arg)
c.1588G>C (p.Gly530Arg)
10g.70758043G>TCA377108939ADAMTS14c.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
10g.70758044G>ACA377108943ADAMTS14c.3020G>A (p.Gly1007Glu)
c.3029G>A (p.Gly1010Glu)
c.2519G>A (p.Gly840Glu)
c.2093G>A (p.Gly698Glu)
c.1589G>A (p.Gly530Glu)
10g.70758044G>CCA377108942ADAMTS14c.3020G>C (p.Gly1007Ala)
c.3029G>C (p.Gly1010Ala)
c.2519G>C (p.Gly840Ala)
c.2093G>C (p.Gly698Ala)
c.1589G>C (p.Gly530Ala)
10g.70758044G>TCA377108944ADAMTS14c.3020G>T (p.Gly1007Val)
c.3029G>T (p.Gly1010Val)
c.2519G>T (p.Gly840Val)
c.2093G>T (p.Gly698Val)
c.1589G>T (p.Gly530Val)
10g.70758045G>ACA470056232ADAMTS14c.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
10g.70758045G>CCA470056233ADAMTS14c.3021G>C (p.Gly1007=)
c.3030G>C (p.Gly1010=)
c.2520G>C (p.Gly840=)
c.2094G>C (p.Gly698=)
c.1590G>C (p.Gly530=)
10g.70758045G=CA1918399650ADAMTS14c.3021G= (p.Gly1007=)
c.3030G= (p.Gly1010=)
c.2520G= (p.Gly840=)
c.2094G= (p.Gly698=)
c.1590G= (p.Gly530=)
10g.70758045G>TCA470056234ADAMTS14c.3021G>T (p.Gly1007=)
c.3030G>T (p.Gly1010=)
c.2520G>T (p.Gly840=)
c.2094G>T (p.Gly698=)
c.1590G>T (p.Gly530=)
10g.70758046G>ACA209415974ADAMTS14c.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
10g.70758046G>CCA377108945ADAMTS14c.3022G>C (p.Asp1008His)
c.3031G>C (p.Asp1011His)
c.2521G>C (p.Asp841His)
c.2095G>C (p.Asp699His)
c.1591G>C (p.Asp531His)
10g.70758046G=CA1918399651ADAMTS14c.3022G= (p.Asp1008=)
c.3031G= (p.Asp1011=)
c.2521G= (p.Asp841=)
c.2095G= (p.Asp699=)
c.1591G= (p.Asp531=)
10g.70758046G>TCA377108946ADAMTS14c.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
10g.70758047A=CA1918399652ADAMTS14c.3023A= (p.Asp1008=)
c.3032A= (p.Asp1011=)
c.2522A= (p.Asp841=)
c.2096A= (p.Asp699=)
c.1592A= (p.Asp531=)
10g.70758047A>CCA377108947ADAMTS14c.3023A>C (p.Asp1008Ala)
c.3032A>C (p.Asp1011Ala)
c.2522A>C (p.Asp841Ala)
c.2096A>C (p.Asp699Ala)
c.1592A>C (p.Asp531Ala)
10g.70758047A>GCA377108948ADAMTS14c.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
10g.70758047A>TCA377108949ADAMTS14c.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
10g.70758048T>ACA377108950ADAMTS14c.3024T>A (p.Asp1008Glu)
c.3033T>A (p.Asp1011Glu)
c.2523T>A (p.Asp841Glu)
c.2097T>A (p.Asp699Glu)
c.1593T>A (p.Asp531Glu)
10g.70758048T>CCA470056238ADAMTS14c.3024T>C (p.Asp1008=)
c.3033T>C (p.Asp1011=)
c.2523T>C (p.Asp841=)
c.2097T>C (p.Asp699=)
c.1593T>C (p.Asp531=)
10g.70758048T>GCA377108951ADAMTS14c.3024T>G (p.Asp1008Glu)
c.3033T>G (p.Asp1011Glu)
c.2523T>G (p.Asp841Glu)
c.2097T>G (p.Asp699Glu)
c.1593T>G (p.Asp531Glu)
10g.70758049A>CCA470056239ADAMTS14c.3025A>C (p.Arg1009=)
c.3034A>C (p.Arg1012=)
c.2524A>C (p.Arg842=)
c.2098A>C (p.Arg700=)
c.1594A>C (p.Arg532=)
10g.70758049A>GCA377108952ADAMTS14c.3025A>G (p.Arg1009Gly)
c.3034A>G (p.Arg1012Gly)
c.2524A>G (p.Arg842Gly)
c.2098A>G (p.Arg700Gly)
c.1594A>G (p.Arg532Gly)
10g.70758049A>TCA377108953ADAMTS14c.3025A>T (p.Arg1009Trp)
c.3034A>T (p.Arg1012Trp)
c.2524A>T (p.Arg842Trp)
c.2098A>T (p.Arg700Trp)
c.1594A>T (p.Arg532Trp)
10g.70758050G>ACA377108954ADAMTS14c.3026G>A (p.Arg1009Lys)
c.3035G>A (p.Arg1012Lys)
c.2525G>A (p.Arg842Lys)
c.2099G>A (p.Arg700Lys)
c.1595G>A (p.Arg532Lys)
10g.70758050G>CCA377108955ADAMTS14c.3026G>C (p.Arg1009Thr)
c.3035G>C (p.Arg1012Thr)
c.2525G>C (p.Arg842Thr)
c.2099G>C (p.Arg700Thr)
c.1595G>C (p.Arg532Thr)
10g.70758050G>TCA377108956ADAMTS14c.3026G>T (p.Arg1009Met)
c.3035G>T (p.Arg1012Met)
c.2525G>T (p.Arg842Met)
c.2099G>T (p.Arg700Met)
c.1595G>T (p.Arg532Met)
10g.70758051G>ACA209415977ADAMTS14c.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
10g.70758051G>CCA377108957ADAMTS14c.3027G>C (p.Arg1009Ser)
c.3036G>C (p.Arg1012Ser)
c.2526G>C (p.Arg842Ser)
c.2100G>C (p.Arg700Ser)
c.1596G>C (p.Arg532Ser)
10g.70758051G=CA1918399653ADAMTS14c.3027G= (p.Arg1009=)
c.3036G= (p.Arg1012=)
c.2526G= (p.Arg842=)
c.2100G= (p.Arg700=)
c.1596G= (p.Arg532=)
10g.70758051G>TCA377108958ADAMTS14c.3027G>T (p.Arg1009Ser)
c.3036G>T (p.Arg1012Ser)
c.2526G>T (p.Arg842Ser)
c.2100G>T (p.Arg700Ser)
c.1596G>T (p.Arg532Ser)
10g.70758052C>ACA377108959ADAMTS14c.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
10g.70758052C=CA1918399654ADAMTS14c.3028C= (p.Pro1010=)
c.3037C= (p.Pro1013=)
c.2527C= (p.Pro843=)
c.2101C= (p.Pro701=)
c.1597C= (p.Pro533=)
10g.70758052C>GCA377108960ADAMTS14c.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
10g.70758052C>TCA377108961ADAMTS14c.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
10g.70758053C>ACA377108962ADAMTS14c.3029C>A (p.Pro1010Gln)
c.3038C>A (p.Pro1013Gln)
c.2528C>A (p.Pro843Gln)
c.2102C>A (p.Pro701Gln)
c.1598C>A (p.Pro533Gln)
10g.70758053C>GCA377108963ADAMTS14c.3029C>G (p.Pro1010Arg)
c.3038C>G (p.Pro1013Arg)
c.2528C>G (p.Pro843Arg)
c.2102C>G (p.Pro701Arg)
c.1598C>G (p.Pro533Arg)
10g.70758053C>TCA377108964ADAMTS14c.3029C>T (p.Pro1010Leu)
c.3038C>T (p.Pro1013Leu)
c.2528C>T (p.Pro843Leu)
c.2102C>T (p.Pro701Leu)
c.1598C>T (p.Pro533Leu)
10g.70758054A>CCA470056243ADAMTS14c.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
10g.70758054A>GCA470056244ADAMTS14c.3030A>G (p.Pro1010=)
c.3039A>G (p.Pro1013=)
c.2529A>G (p.Pro843=)
c.2103A>G (p.Pro701=)
c.1599A>G (p.Pro533=)
10g.70758054A>TCA470056245ADAMTS14c.3030A>T (p.Pro1010=)
c.3039A>T (p.Pro1013=)
c.2529A>T (p.Pro843=)
c.2103A>T (p.Pro701=)
c.1599A>T (p.Pro533=)
10g.70758055G>ACA377108965ADAMTS14c.3031G>A (p.Asp1011Asn)
c.3040G>A (p.Asp1014Asn)
c.2530G>A (p.Asp844Asn)
c.2104G>A (p.Asp702Asn)
c.1600G>A (p.Asp534Asn)
10g.70758055G>CCA5540313ADAMTS14c.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
10g.70758055G=CA1918399655ADAMTS14c.3031G= (p.Asp1011=)
c.3040G= (p.Asp1014=)
c.2530G= (p.Asp844=)
c.2104G= (p.Asp702=)
c.1600G= (p.Asp534=)
10g.70758055G>TCA377108966ADAMTS14c.3031G>T (p.Asp1011Tyr)
c.3040G>T (p.Asp1014Tyr)
c.2530G>T (p.Asp844Tyr)
c.2104G>T (p.Asp702Tyr)
c.1600G>T (p.Asp534Tyr)
10g.70758056A>CCA377108967ADAMTS14c.3032A>C (p.Asp1011Ala)
c.3041A>C (p.Asp1014Ala)
c.2531A>C (p.Asp844Ala)
c.2105A>C (p.Asp702Ala)
c.1601A>C (p.Asp534Ala)
10g.70758056A>GCA377108968ADAMTS14c.3032A>G (p.Asp1011Gly)
c.3041A>G (p.Asp1014Gly)
c.2531A>G (p.Asp844Gly)
c.2105A>G (p.Asp702Gly)
c.1601A>G (p.Asp534Gly)
10g.70758056A>TCA377108969ADAMTS14c.3032A>T (p.Asp1011Val)
c.3041A>T (p.Asp1014Val)
c.2531A>T (p.Asp844Val)
c.2105A>T (p.Asp702Val)
c.1601A>T (p.Asp534Val)
10g.70758057C>ACA377108971ADAMTS14c.3033C>A (p.Asp1011Glu)
c.3042C>A (p.Asp1014Glu)
c.2532C>A (p.Asp844Glu)
c.2106C>A (p.Asp702Glu)
c.1602C>A (p.Asp534Glu)
10g.70758057C>GCA377108970ADAMTS14c.3033C>G (p.Asp1011Glu)
c.3042C>G (p.Asp1014Glu)
c.2532C>G (p.Asp844Glu)
c.2106C>G (p.Asp702Glu)
c.1602C>G (p.Asp534Glu)
10g.70758057C>TCA470056247ADAMTS14c.3033C>T (p.Asp1011=)
c.3042C>T (p.Asp1014=)
c.2532C>T (p.Asp844=)
c.2106C>T (p.Asp702=)
c.1602C>T (p.Asp534=)
10g.70758058A=CA1918399656ADAMTS14c.3034A= (p.Thr1012=)
c.3043A= (p.Thr1015=)
c.2533A= (p.Thr845=)
c.2107A= (p.Thr703=)
c.1603A= (p.Thr535=)
10g.70758058A>CCA377108972ADAMTS14c.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
10g.70758058A>GCA5540314ADAMTS14c.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
10g.70758058A>TCA377108973ADAMTS14c.3034A>T (p.Thr1012Ser)
c.3043A>T (p.Thr1015Ser)
c.2533A>T (p.Thr845Ser)
c.2107A>T (p.Thr703Ser)
c.1603A>T (p.Thr535Ser)
10g.70758059C>ACA377108974ADAMTS14c.3035C>A (p.Thr1012Asn)
c.3044C>A (p.Thr1015Asn)
c.2534C>A (p.Thr845Asn)
c.2108C>A (p.Thr703Asn)
c.1604C>A (p.Thr535Asn)
10g.70758059C>GCA377108975ADAMTS14c.3035C>G (p.Thr1012Ser)
c.3044C>G (p.Thr1015Ser)
c.2534C>G (p.Thr845Ser)
c.2108C>G (p.Thr703Ser)
c.1604C>G (p.Thr535Ser)
10g.70758059C>TCA377108976ADAMTS14c.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
10g.70758060T>ACA470056250ADAMTS14c.3036T>A (p.Thr1012=)
c.3045T>A (p.Thr1015=)
c.2535T>A (p.Thr845=)
c.2109T>A (p.Thr703=)
c.1605T>A (p.Thr535=)
10g.70758060T>CCA470056251ADAMTS14c.3036T>C (p.Thr1012=)
c.3045T>C (p.Thr1015=)
c.2535T>C (p.Thr845=)
c.2109T>C (p.Thr703=)
c.1605T>C (p.Thr535=)
10g.70758060T>GCA470056248ADAMTS14c.3036T>G (p.Thr1012=)
c.3045T>G (p.Thr1015=)
c.2535T>G (p.Thr845=)
c.2109T>G (p.Thr703=)
c.1605T>G (p.Thr535=)
10g.70758061G>ACA377108977ADAMTS14c.3037G>A (p.Val1013Ile)
c.3046G>A (p.Val1016Ile)
c.2536G>A (p.Val846Ile)
c.2110G>A (p.Val704Ile)
c.1606G>A (p.Val536Ile)
10g.70758061G>CCA209415987ADAMTS14c.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
10g.70758061G=CA1918399657ADAMTS14c.3037G= (p.Val1013=)
c.3046G= (p.Val1016=)
c.2536G= (p.Val846=)
c.2110G= (p.Val704=)
c.1606G= (p.Val536=)
10g.70758061G>TCA377108978ADAMTS14c.3037G>T (p.Val1013Phe)
c.3046G>T (p.Val1016Phe)
c.2536G>T (p.Val846Phe)
c.2110G>T (p.Val704Phe)
c.1606G>T (p.Val536Phe)
10g.70758062T>ACA377108979ADAMTS14c.3038T>A (p.Val1013Asp)
c.3047T>A (p.Val1016Asp)
c.2537T>A (p.Val846Asp)
c.2111T>A (p.Val704Asp)
c.1607T>A (p.Val536Asp)
10g.70758062T>CCA377108980ADAMTS14c.3038T>C (p.Val1013Ala)
c.3047T>C (p.Val1016Ala)
c.2537T>C (p.Val846Ala)
c.2111T>C (p.Val704Ala)
c.1607T>C (p.Val536Ala)
10g.70758062T>GCA377108981ADAMTS14c.3038T>G (p.Val1013Gly)
c.3047T>G (p.Val1016Gly)
c.2537T>G (p.Val846Gly)
c.2111T>G (p.Val704Gly)
c.1607T>G (p.Val536Gly)
10g.70758063C>ACA470056255ADAMTS14c.3039C>A (p.Val1013=)
c.3048C>A (p.Val1016=)
c.2538C>A (p.Val846=)
c.2112C>A (p.Val704=)
c.1608C>A (p.Val536=)
10g.70758063C>GCA470056253ADAMTS14c.3039C>G (p.Val1013=)
c.3048C>G (p.Val1016=)
c.2538C>G (p.Val846=)
c.2112C>G (p.Val704=)
c.1608C>G (p.Val536=)
10g.70758063C>TCA470056254ADAMTS14c.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
10g.70758064C>ACA377108983ADAMTS14c.3040C>A (p.Gln1014Lys)
c.3049C>A (p.Gln1017Lys)
c.2539C>A (p.Gln847Lys)
c.2113C>A (p.Gln705Lys)
c.1609C>A (p.Gln537Lys)
10g.70758064C=CA1918399658ADAMTS14c.3040C= (p.Gln1014=)
c.3049C= (p.Gln1017=)
c.2539C= (p.Gln847=)
c.2113C= (p.Gln705=)
c.1609C= (p.Gln537=)
10g.70758064C>GCA377108984ADAMTS14c.3040C>G (p.Gln1014Glu)
c.3049C>G (p.Gln1017Glu)
c.2539C>G (p.Gln847Glu)
c.2113C>G (p.Gln705Glu)
c.1609C>G (p.Gln537Glu)
10g.70758064C>TCA377108982ADAMTS14c.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
10g.70758065A=CA1918399659ADAMTS14c.3041A= (p.Gln1014=)
c.3050A= (p.Gln1017=)
c.2540A= (p.Gln847=)
c.2114A= (p.Gln705=)
c.1610A= (p.Gln537=)
10g.70758065A>CCA377108985ADAMTS14c.3041A>C (p.Gln1014Pro)
c.3050A>C (p.Gln1017Pro)
c.2540A>C (p.Gln847Pro)
c.2114A>C (p.Gln705Pro)
c.1610A>C (p.Gln537Pro)
10g.70758065A>GCA377108986ADAMTS14c.3041A>G (p.Gln1014Arg)
c.3050A>G (p.Gln1017Arg)
c.2540A>G (p.Gln847Arg)
c.2114A>G (p.Gln705Arg)
c.1610A>G (p.Gln537Arg)
10g.70758065A>TCA5540315ADAMTS14c.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
10g.70758066G>ACA470056256ADAMTS14c.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
10g.70758066G>CCA377108987ADAMTS14c.3042G>C (p.Gln1014His)
c.3051G>C (p.Gln1017His)
c.2541G>C (p.Gln847His)
c.2115G>C (p.Gln705His)
c.1611G>C (p.Gln537His)
10g.70758066G>TCA377108988ADAMTS14c.3042G>T (p.Gln1014His)
c.3051G>T (p.Gln1017His)
c.2541G>T (p.Gln847His)
c.2115G>T (p.Gln705His)
c.1611G>T (p.Gln537His)
10g.70758067G>ACA377108991ADAMTS14c.3043G>A (p.Val1015Ile)
c.3052G>A (p.Val1018Ile)
c.2542G>A (p.Val848Ile)
c.2116G>A (p.Val706Ile)
c.1612G>A (p.Val538Ile)
10g.70758067G>CCA377108989ADAMTS14c.3043G>C (p.Val1015Leu)
c.3052G>C (p.Val1018Leu)
c.2542G>C (p.Val848Leu)
c.2116G>C (p.Val706Leu)
c.1612G>C (p.Val538Leu)
10g.70758067G>TCA377108990ADAMTS14c.3043G>T (p.Val1015Phe)
c.3052G>T (p.Val1018Phe)
c.2542G>T (p.Val848Phe)
c.2116G>T (p.Val706Phe)
c.1612G>T (p.Val538Phe)
10g.70758068T>ACA377108992ADAMTS14c.3044T>A (p.Val1015Asp)
c.3053T>A (p.Val1018Asp)
c.2543T>A (p.Val848Asp)
c.2117T>A (p.Val706Asp)
c.1613T>A (p.Val538Asp)
10g.70758068T>CCA377108993ADAMTS14c.3044T>C (p.Val1015Ala)
c.3053T>C (p.Val1018Ala)
c.2543T>C (p.Val848Ala)
c.2117T>C (p.Val706Ala)
c.1613T>C (p.Val538Ala)
10g.70758068T>GCA377108994ADAMTS14c.3044T>G (p.Val1015Gly)
c.3053T>G (p.Val1018Gly)
c.2543T>G (p.Val848Gly)
c.2117T>G (p.Val706Gly)
c.1613T>G (p.Val538Gly)
10g.70758069C>ACA470056258ADAMTS14c.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
10g.70758069C>GCA470056259ADAMTS14c.3045C>G (p.Val1015=)
c.3054C>G (p.Val1018=)
c.2544C>G (p.Val848=)
c.2118C>G (p.Val706=)
c.1614C>G (p.Val538=)
10g.70758069C>TCA470056260ADAMTS14c.3045C>T (p.Val1015=)
c.3054C>T (p.Val1018=)
c.2544C>T (p.Val848=)
c.2118C>T (p.Val706=)
c.1614C>T (p.Val538=)
10g.70758070T>ACA377108995ADAMTS14c.3046T>A (p.Cys1016Ser)
c.3055T>A (p.Cys1019Ser)
c.2545T>A (p.Cys849Ser)
c.2119T>A (p.Cys707Ser)
c.1615T>A (p.Cys539Ser)
10g.70758070T>CCA377108996ADAMTS14c.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
10g.70758070T>GCA377108997ADAMTS14c.3046T>G (p.Cys1016Gly)
c.3055T>G (p.Cys1019Gly)
c.2545T>G (p.Cys849Gly)
c.2119T>G (p.Cys707Gly)
c.1615T>G (p.Cys539Gly)
10g.70758071G>ACA377108999ADAMTS14c.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
10g.70758071G>CCA377109000ADAMTS14c.3047G>C (p.Cys1016Ser)
c.3056G>C (p.Cys1019Ser)
c.2546G>C (p.Cys849Ser)
c.2120G>C (p.Cys707Ser)
c.1616G>C (p.Cys539Ser)
10g.70758071G>TCA377108998ADAMTS14c.3047G>T (p.Cys1016Phe)
c.3056G>T (p.Cys1019Phe)
c.2546G>T (p.Cys849Phe)
c.2120G>T (p.Cys707Phe)
c.1616G>T (p.Cys539Phe)
10g.70758072C>ACA377109001ADAMTS14c.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
10g.70758072C=CA1918399660ADAMTS14c.3048C= (p.Cys1016=)
c.3057C= (p.Cys1019=)
c.2547C= (p.Cys849=)
c.2121C= (p.Cys707=)
c.1617C= (p.Cys539=)
10g.70758072C>GCA377109002ADAMTS14c.3048C>G (p.Cys1016Trp)
c.3057C>G (p.Cys1019Trp)
c.2547C>G (p.Cys849Trp)
c.2121C>G (p.Cys707Trp)
c.1617C>G (p.Cys539Trp)
10g.70758072C>TCA470056262ADAMTS14c.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
10g.70758073A>CCA377109003ADAMTS14c.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
10g.70758073A>GCA377109005ADAMTS14c.3049A>G (p.Ser1017Gly)
c.3058A>G (p.Ser1020Gly)
c.2548A>G (p.Ser850Gly)
c.2122A>G (p.Ser708Gly)
c.1618A>G (p.Ser540Gly)
10g.70758073A>TCA377109004ADAMTS14c.3049A>T (p.Ser1017Cys)
c.3058A>T (p.Ser1020Cys)
c.2548A>T (p.Ser850Cys)
c.2122A>T (p.Ser708Cys)
c.1618A>T (p.Ser540Cys)
10g.70758074G>ACA5540316ADAMTS14c.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
10g.70758074G>CCA377109006ADAMTS14c.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
10g.70758074G=CA1918399661ADAMTS14c.3050G= (p.Ser1017=)
c.3059G= (p.Ser1020=)
c.2549G= (p.Ser850=)
c.2123G= (p.Ser708=)
c.1619G= (p.Ser540=)
10g.70758074G>TCA377109007ADAMTS14c.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
10g.70758075C>ACA209415998ADAMTS14c.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
10g.70758075C=CA1918399662ADAMTS14c.3051C= (p.Ser1017=)
c.3060C= (p.Ser1020=)
c.2550C= (p.Ser850=)
c.2124C= (p.Ser708=)
c.1620C= (p.Ser540=)
10g.70758075C>GCA377109008ADAMTS14c.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
10g.70758075C>TCA470056263ADAMTS14c.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
10g.70758076C>ACA377109009ADAMTS14c.3052C>A (p.Leu1018Met)
c.3061C>A (p.Leu1021Met)
c.2551C>A (p.Leu851Met)
c.2125C>A (p.Leu709Met)
c.1621C>A (p.Leu541Met)
10g.70758076C>GCA377109010ADAMTS14c.3052C>G (p.Leu1018Val)
c.3061C>G (p.Leu1021Val)
c.2551C>G (p.Leu851Val)
c.2125C>G (p.Leu709Val)
c.1621C>G (p.Leu541Val)
10g.70758076C>TCA470056264ADAMTS14c.3052C>T (p.Leu1018=)
c.3061C>T (p.Leu1021=)
c.2551C>T (p.Leu851=)
c.2125C>T (p.Leu709=)
c.1621C>T (p.Leu541=)
10g.70758077T>ACA377109011ADAMTS14c.3053T>A (p.Leu1018Gln)
c.3062T>A (p.Leu1021Gln)
c.2552T>A (p.Leu851Gln)
c.2126T>A (p.Leu709Gln)
c.1622T>A (p.Leu541Gln)
10g.70758077T>CCA377109013ADAMTS14c.3053T>C (p.Leu1018Pro)
c.3062T>C (p.Leu1021Pro)
c.2552T>C (p.Leu851Pro)
c.2126T>C (p.Leu709Pro)
c.1622T>C (p.Leu541Pro)
10g.70758077T>GCA377109012ADAMTS14c.3053T>G (p.Leu1018Arg)
c.3062T>G (p.Leu1021Arg)
c.2552T>G (p.Leu851Arg)
c.2126T>G (p.Leu709Arg)
c.1622T>G (p.Leu541Arg)
10g.70758078G>ACA5540317ADAMTS14c.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
10g.70758078G>CCA470056267ADAMTS14c.3054G>C (p.Leu1018=)
c.3063G>C (p.Leu1021=)
c.2553G>C (p.Leu851=)
c.2127G>C (p.Leu709=)
c.1623G>C (p.Leu541=)
10g.70758078G=CA1918399663ADAMTS14c.3054G= (p.Leu1018=)
c.3063G= (p.Leu1021=)
c.2553G= (p.Leu851=)
c.2127G= (p.Leu709=)
c.1623G= (p.Leu541=)
10g.70758078G>TCA470056268ADAMTS14c.3054G>T (p.Leu1018=)
c.3063G>T (p.Leu1021=)
c.2553G>T (p.Leu851=)
c.2127G>T (p.Leu709=)
c.1623G>T (p.Leu541=)
10g.70758081_70758084delCA2609526117ADAMTS14c.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
10g.70758079C>ACA209416011ADAMTS14c.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
10g.70758079C=CA1918399664ADAMTS14c.3055C= (p.Pro1019=)
c.3064C= (p.Pro1022=)
c.2554C= (p.Pro852=)
c.2128C= (p.Pro710=)
c.1624C= (p.Pro542=)
10g.70758079C>GCA377109014ADAMTS14c.3055C>G (p.Pro1019Ala)
c.3064C>G (p.Pro1022Ala)
c.2554C>G (p.Pro852Ala)
c.2128C>G (p.Pro710Ala)
c.1624C>G (p.Pro542Ala)
10g.70758079C>TCA377109015ADAMTS14c.3055C>T (p.Pro1019Ser)
c.3064C>T (p.Pro1022Ser)
c.2554C>T (p.Pro852Ser)
c.2128C>T (p.Pro710Ser)
c.1624C>T (p.Pro542Ser)
10g.70758080C>ACA377109018ADAMTS14c.3056C>A (p.Pro1019His)
c.3065C>A (p.Pro1022His)
c.2555C>A (p.Pro852His)
c.2129C>A (p.Pro710His)
c.1625C>A (p.Pro542His)
10g.70758080C=CA1918399665ADAMTS14c.3056C= (p.Pro1019=)
c.3065C= (p.Pro1022=)
c.2555C= (p.Pro852=)
c.2129C= (p.Pro710=)
c.1625C= (p.Pro542=)
10g.70758080C>GCA377109016ADAMTS14c.3056C>G (p.Pro1019Arg)
c.3065C>G (p.Pro1022Arg)
c.2555C>G (p.Pro852Arg)
c.2129C>G (p.Pro710Arg)
c.1625C>G (p.Pro542Arg)
10g.70758080C>TCA377109017ADAMTS14c.3056C>T (p.Pro1019Leu)
c.3065C>T (p.Pro1022Leu)
c.2555C>T (p.Pro852Leu)
c.2129C>T (p.Pro710Leu)
c.1625C>T (p.Pro542Leu)
10g.70758080_70758081insTGCA5540318ADAMTS14c.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
10g.70758081C>ACA470056271ADAMTS14c.3057C>A (p.Pro1019=)
c.3066C>A (p.Pro1022=)
c.2556C>A (p.Pro852=)
c.2130C>A (p.Pro710=)
c.1626C>A (p.Pro542=)
10g.70758081C=CA1918399666ADAMTS14c.3057C= (p.Pro1019=)
c.3066C= (p.Pro1022=)
c.2556C= (p.Pro852=)
c.2130C= (p.Pro710=)
c.1626C= (p.Pro542=)
10g.70758081C>GCA470056270ADAMTS14c.3057C>G (p.Pro1019=)
c.3066C>G (p.Pro1022=)
c.2556C>G (p.Pro852=)
c.2130C>G (p.Pro710=)
c.1626C>G (p.Pro542=)
10g.70758081C>TCA5540319ADAMTS14c.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
10g.70758081_70758082insCTCA5540320ADAMTS14c.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
10g.70758082G>ACA377109019ADAMTS14c.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
10g.70758082G>CCA377109020ADAMTS14c.3058G>C (p.Ala1020Pro)
c.3067G>C (p.Ala1023Pro)
c.2557G>C (p.Ala853Pro)
c.2131G>C (p.Ala711Pro)
c.1627G>C (p.Ala543Pro)
10g.70758082G=CA1918399667ADAMTS14c.3058G= (p.Ala1020=)
c.3067G= (p.Ala1023=)
c.2557G= (p.Ala853=)
c.2131G= (p.Ala711=)
c.1627G= (p.Ala543=)
10g.70758082G>TCA377109021ADAMTS14c.3058G>T (p.Ala1020Ser)
c.3067G>T (p.Ala1023Ser)
c.2557G>T (p.Ala853Ser)
c.2131G>T (p.Ala711Ser)
c.1627G>T (p.Ala543Ser)
10g.70758083C>ACA377109022ADAMTS14c.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
10g.70758083C=CA1918399668ADAMTS14c.3059C= (p.Ala1020=)
c.3068C= (p.Ala1023=)
c.2558C= (p.Ala853=)
c.2132C= (p.Ala711=)
c.1628C= (p.Ala543=)
10g.70758083C>GCA5540321ADAMTS14c.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
10g.70758083C>TCA209416027ADAMTS14c.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
10g.70758084C>ACA470056273ADAMTS14c.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
10g.70758084C>GCA470056275ADAMTS14c.3060C>G (p.Ala1020=)
c.3069C>G (p.Ala1023=)
c.2559C>G (p.Ala853=)
c.2133C>G (p.Ala711=)
c.1629C>G (p.Ala543=)
10g.70758084C>TCA470056274ADAMTS14c.3060C>T (p.Ala1020=)
c.3069C>T (p.Ala1023=)
c.2559C>T (p.Ala853=)
c.2133C>T (p.Ala711=)
c.1629C>T (p.Ala543=)
10g.70758085T>ACA377109023ADAMTS14c.3061T>A (p.Cys1021Ser)
c.3070T>A (p.Cys1024Ser)
c.2560T>A (p.Cys854Ser)
c.2134T>A (p.Cys712Ser)
c.1630T>A (p.Cys544Ser)
10g.70758085T>CCA377109024ADAMTS14c.3061T>C (p.Cys1021Arg)
c.3070T>C (p.Cys1024Arg)
c.2560T>C (p.Cys854Arg)
c.2134T>C (p.Cys712Arg)
c.1630T>C (p.Cys544Arg)
10g.70758085T>GCA377109025ADAMTS14c.3061T>G (p.Cys1021Gly)
c.3070T>G (p.Cys1024Gly)
c.2560T>G (p.Cys854Gly)
c.2134T>G (p.Cys712Gly)
c.1630T>G (p.Cys544Gly)
10g.70758086G>ACA377109026ADAMTS14c.3062G>A (p.Cys1021Tyr)
c.3071G>A (p.Cys1024Tyr)
c.2561G>A (p.Cys854Tyr)
c.2135G>A (p.Cys712Tyr)
c.1631G>A (p.Cys544Tyr)
dbSNP gnomAD v3 gnomAD v4
10g.70758086G>CCA377109028ADAMTS14c.3062G>C (p.Cys1021Ser)
c.3071G>C (p.Cys1024Ser)
c.2561G>C (p.Cys854Ser)
c.2135G>C (p.Cys712Ser)
c.1631G>C (p.Cys544Ser)
10g.70758086G=CA1918399669ADAMTS14c.3062G= (p.Cys1021=)
c.3071G= (p.Cys1024=)
c.2561G= (p.Cys854=)
c.2135G= (p.Cys712=)
c.1631G= (p.Cys544=)
10g.70758086G>TCA377109027ADAMTS14c.3062G>T (p.Cys1021Phe)
c.3071G>T (p.Cys1024Phe)
c.2561G>T (p.Cys854Phe)
c.2135G>T (p.Cys712Phe)
c.1631G>T (p.Cys544Phe)
10g.70758087T>ACA377109029ADAMTS14c.3063T>A (p.Cys1021Ter)
c.3072T>A (p.Cys1024Ter)
c.2562T>A (p.Cys854Ter)
c.2136T>A (p.Cys712Ter)
c.1632T>A (p.Cys544Ter)
10g.70758087T>CCA470056276ADAMTS14c.3063T>C (p.Cys1021=)
c.3072T>C (p.Cys1024=)
c.2562T>C (p.Cys854=)
c.2136T>C (p.Cys712=)
c.1632T>C (p.Cys544=)
dbSNP gnomAD v2 gnomAD v4
10g.70758087T>GCA377109030ADAMTS14c.3063T>G (p.Cys1021Trp)
c.3072T>G (p.Cys1024Trp)
c.2562T>G (p.Cys854Trp)
c.2136T>G (p.Cys712Trp)
c.1632T>G (p.Cys544Trp)
10g.70758087T=CA1918399670ADAMTS14c.3063T= (p.Cys1021=)
c.3072T= (p.Cys1024=)
c.2562T= (p.Cys854=)
c.2136T= (p.Cys712=)
c.1632T= (p.Cys544=)
10g.70758088G>ACA377109031ADAMTS14c.3064G>A (p.Gly1022Arg)
c.3073G>A (p.Gly1025Arg)
c.2563G>A (p.Gly855Arg)
c.2137G>A (p.Gly713Arg)
c.1633G>A (p.Gly545Arg)
10g.70758088G>CCA377109032ADAMTS14c.3064G>C (p.Gly1022Arg)
c.3073G>C (p.Gly1025Arg)
c.2563G>C (p.Gly855Arg)
c.2137G>C (p.Gly713Arg)
c.1633G>C (p.Gly545Arg)
10g.70758088G>TCA377109033ADAMTS14c.3064G>T (p.Gly1022Ter)
c.3073G>T (p.Gly1025Ter)
c.2563G>T (p.Gly855Ter)
c.2137G>T (p.Gly713Ter)
c.1633G>T (p.Gly545Ter)
10g.70758089G>ACA377109034ADAMTS14c.3065G>A (p.Gly1022Glu)
c.3074G>A (p.Gly1025Glu)
c.2564G>A (p.Gly855Glu)
c.2138G>A (p.Gly713Glu)
c.1634G>A (p.Gly545Glu)
10g.70758089G>CCA377109035ADAMTS14c.3065G>C (p.Gly1022Ala)
c.3074G>C (p.Gly1025Ala)
c.2564G>C (p.Gly855Ala)
c.2138G>C (p.Gly713Ala)
c.1634G>C (p.Gly545Ala)
10g.70758089G>TCA377109036ADAMTS14c.3065G>T (p.Gly1022Val)
c.3074G>T (p.Gly1025Val)
c.2564G>T (p.Gly855Val)
c.2138G>T (p.Gly713Val)
c.1634G>T (p.Gly545Val)
10g.70758090A=CA1918399671ADAMTS14c.3066A= (p.Gly1022=)
c.3075A= (p.Gly1025=)
c.2565A= (p.Gly855=)
c.2139A= (p.Gly713=)
c.1635A= (p.Gly545=)
10g.70758090A>CCA470056277ADAMTS14c.3066A>C (p.Gly1022=)
c.3075A>C (p.Gly1025=)
c.2565A>C (p.Gly855=)
c.2139A>C (p.Gly713=)
c.1635A>C (p.Gly545=)
dbSNP gnomAD v2 gnomAD v4
10g.70758090A>GCA470056278ADAMTS14c.3066A>G (p.Gly1022=)
c.3075A>G (p.Gly1025=)
c.2565A>G (p.Gly855=)
c.2139A>G (p.Gly713=)
c.1635A>G (p.Gly545=)
gnomAD v4
10g.70758090A>TCA470056279ADAMTS14c.3066A>T (p.Gly1022=)
c.3075A>T (p.Gly1025=)
c.2565A>T (p.Gly855=)
c.2139A>T (p.Gly713=)
c.1635A>T (p.Gly545=)
10g.70758091G>ACA377109037ADAMTS14c.3067G>A (p.Gly1023Arg)
c.3076G>A (p.Gly1026Arg)
c.2566G>A (p.Gly856Arg)
c.2140G>A (p.Gly714Arg)
c.1636G>A (p.Gly546Arg)
10g.70758091G>CCA377109038ADAMTS14c.3067G>C (p.Gly1023Arg)
c.3076G>C (p.Gly1026Arg)
c.2566G>C (p.Gly856Arg)
c.2140G>C (p.Gly714Arg)
c.1636G>C (p.Gly546Arg)
10g.70758091G>TCA377109039ADAMTS14c.3067G>T (p.Gly1023Ter)
c.3076G>T (p.Gly1026Ter)
c.2566G>T (p.Gly856Ter)
c.2140G>T (p.Gly714Ter)
c.1636G>T (p.Gly546Ter)
10g.70758092G>ACA377109042ADAMTS14c.3067+1G>A (n.3067+1G>A)
c.3076+1G>A (n.3076+1G>A)
c.2566+1G>A (n.2566+1G>A)
c.2140+1G>A (n.2140+1G>A)
c.1636+1G>A (n.1636+1G>A)
COSMIC
10g.70758092G>CCA377109041ADAMTS14c.3067+1G>C (n.3067+1G>C)
c.3076+1G>C (n.3076+1G>C)
c.2566+1G>C (n.2566+1G>C)
c.2140+1G>C (n.2140+1G>C)
c.1636+1G>C (n.1636+1G>C)
10g.70758092G>TCA377109040ADAMTS14c.3067+1G>T (n.3067+1G>T)
c.3076+1G>T (n.3076+1G>T)
c.2566+1G>T (n.2566+1G>T)
c.2140+1G>T (n.2140+1G>T)
c.1636+1G>T (n.1636+1G>T)
10g.70758093T>ACA377109043ADAMTS14c.3067+2T>A (n.3067+2T>A)
c.3076+2T>A (n.3076+2T>A)
c.2566+2T>A (n.2566+2T>A)
c.2140+2T>A (n.2140+2T>A)
c.1636+2T>A (n.1636+2T>A)
10g.70758093T>CCA5540322ADAMTS14c.3067+2T>C (n.3067+2T>C)
c.3076+2T>C (n.3076+2T>C)
c.2566+2T>C (n.2566+2T>C)
c.2140+2T>C (n.2140+2T>C)
c.1636+2T>C (n.1636+2T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758093T>GCA377109044ADAMTS14c.3067+2T>G (n.3067+2T>G)
c.3076+2T>G (n.3076+2T>G)
c.2566+2T>G (n.2566+2T>G)
c.2140+2T>G (n.2140+2T>G)
c.1636+2T>G (n.1636+2T>G)
dbSNP
10g.70758093T=CA1918399672ADAMTS14c.3067+2T= (n.3067+2T=)
c.3076+2T= (n.3076+2T=)
c.2566+2T= (n.2566+2T=)
c.2140+2T= (n.2140+2T=)
c.1636+2T= (n.1636+2T=)
10g.70758094G>ACA5540323ADAMTS14c.3067+3G>A (n.3067+3G>A)
c.3076+3G>A (n.3076+3G>A)
c.2566+3G>A (n.2566+3G>A)
c.2140+3G>A (n.2140+3G>A)
c.1636+3G>A (n.1636+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758094G>CCA1918399674ADAMTS14c.3067+3G>C (n.3067+3G>C)
c.3076+3G>C (n.3076+3G>C)
c.2566+3G>C (n.2566+3G>C)
c.2140+3G>C (n.2140+3G>C)
c.1636+3G>C (n.1636+3G>C)
dbSNP
10g.70758094G=CA1918399673ADAMTS14c.3067+3G= (n.3067+3G=)
c.3076+3G= (n.3076+3G=)
c.2566+3G= (n.2566+3G=)
c.2140+3G= (n.2140+3G=)
c.1636+3G= (n.1636+3G=)
10g.70758096G>ACA594294177ADAMTS14c.3067+5G>A (n.3067+5G>A)
c.3076+5G>A (n.3076+5G>A)
c.2566+5G>A (n.2566+5G>A)
c.2140+5G>A (n.2140+5G>A)
c.1636+5G>A (n.1636+5G>A)
dbSNP gnomAD v2 gnomAD v4
10g.70758096G>CCA2788451771ADAMTS14c.3067+5G>C (n.3067+5G>C)
c.3076+5G>C (n.3076+5G>C)
c.2566+5G>C (n.2566+5G>C)
c.2140+5G>C (n.2140+5G>C)
c.1636+5G>C (n.1636+5G>C)
10g.70758096G=CA1918399675ADAMTS14c.3067+5G= (n.3067+5G=)
c.3076+5G= (n.3076+5G=)
c.2566+5G= (n.2566+5G=)
c.2140+5G= (n.2140+5G=)
c.1636+5G= (n.1636+5G=)
10g.70758097C>ACA2609526149ADAMTS14c.3067+6C>A (n.3067+6C>A)
c.3076+6C>A (n.3076+6C>A)
c.2566+6C>A (n.2566+6C>A)
c.2140+6C>A (n.2140+6C>A)
c.1636+6C>A (n.1636+6C>A)
gnomAD v4
10g.70758098C>ACA929722585ADAMTS14c.3067+7C>A (n.3067+7C>A)
c.3076+7C>A (n.3076+7C>A)
c.2566+7C>A (n.2566+7C>A)
c.2140+7C>A (n.2140+7C>A)
c.1636+7C>A (n.1636+7C>A)
dbSNP gnomAD v3 gnomAD v4
10g.70758098C=CA1918399676ADAMTS14c.3067+7C= (n.3067+7C=)
c.3076+7C= (n.3076+7C=)
c.2566+7C= (n.2566+7C=)
c.2140+7C= (n.2140+7C=)
c.1636+7C= (n.1636+7C=)
10g.70758100G>CCA594294178ADAMTS14c.3067+9G>C (n.3067+9G>C)
c.3076+9G>C (n.3076+9G>C)
c.2566+9G>C (n.2566+9G>C)
c.2140+9G>C (n.2140+9G>C)
c.1636+9G>C (n.1636+9G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758100G=CA1918399677ADAMTS14c.3067+9G= (n.3067+9G=)
c.3076+9G= (n.3076+9G=)
c.2566+9G= (n.2566+9G=)
c.2140+9G= (n.2140+9G=)
c.1636+9G= (n.1636+9G=)
10g.70758102G>TCA2609526150ADAMTS14c.3067+11G>T (n.3067+11G>T)
c.3076+11G>T (n.3076+11G>T)
c.2566+11G>T (n.2566+11G>T)
c.2140+11G>T (n.2140+11G>T)
c.1636+11G>T (n.1636+11G>T)
gnomAD v4
10g.70758103G=CA1918399678ADAMTS14c.3067+12G= (n.3067+12G=)
c.3076+12G= (n.3076+12G=)
c.2566+12G= (n.2566+12G=)
c.2140+12G= (n.2140+12G=)
c.1636+12G= (n.1636+12G=)
10g.70758103G>TCA5540324ADAMTS14c.3067+12G>T (n.3067+12G>T)
c.3076+12G>T (n.3076+12G>T)
c.2566+12G>T (n.2566+12G>T)
c.2140+12G>T (n.2140+12G>T)
c.1636+12G>T (n.1636+12G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758105G>CCA1918399680ADAMTS14c.3067+14G>C (n.3067+14G>C)
c.3076+14G>C (n.3076+14G>C)
c.2566+14G>C (n.2566+14G>C)
c.2140+14G>C (n.2140+14G>C)
c.1636+14G>C (n.1636+14G>C)
dbSNP
10g.70758105G=CA1918399679ADAMTS14c.3067+14G= (n.3067+14G=)
c.3076+14G= (n.3076+14G=)
c.2566+14G= (n.2566+14G=)
c.2140+14G= (n.2140+14G=)
c.1636+14G= (n.1636+14G=)
10g.70758106A>GCA2574572675ADAMTS14c.3067+15A>G (n.3067+15A>G)
c.3076+15A>G (n.3076+15A>G)
c.2566+15A>G (n.2566+15A>G)
c.2140+15A>G (n.2140+15A>G)
c.1636+15A>G (n.1636+15A>G)
10g.70758107T>CCA2609526151ADAMTS14c.3067+16T>C (n.3067+16T>C)
c.3076+16T>C (n.3076+16T>C)
c.2566+16T>C (n.2566+16T>C)
c.2140+16T>C (n.2140+16T>C)
c.1636+16T>C (n.1636+16T>C)
gnomAD v4
10g.70758108G>ACA668031256ADAMTS14c.3067+17G>A (n.3067+17G>A)
c.3076+17G>A (n.3076+17G>A)
c.2566+17G>A (n.2566+17G>A)
c.2140+17G>A (n.2140+17G>A)
c.1636+17G>A (n.1636+17G>A)
dbSNP gnomAD v3 gnomAD v4
10g.70758108G=CA1918399681ADAMTS14c.3067+17G= (n.3067+17G=)
c.3076+17G= (n.3076+17G=)
c.2566+17G= (n.2566+17G=)
c.2140+17G= (n.2140+17G=)
c.1636+17G= (n.1636+17G=)
10g.70758109G>ACA2609526154ADAMTS14c.3067+18G>A (n.3067+18G>A)
c.3076+18G>A (n.3076+18G>A)
c.2566+18G>A (n.2566+18G>A)
c.2140+18G>A (n.2140+18G>A)
c.1636+18G>A (n.1636+18G>A)
gnomAD v4
10g.70758109G>CCA2609526155ADAMTS14c.3067+18G>C (n.3067+18G>C)
c.3076+18G>C (n.3076+18G>C)
c.2566+18G>C (n.2566+18G>C)
c.2140+18G>C (n.2140+18G>C)
c.1636+18G>C (n.1636+18G>C)
gnomAD v4
10g.70758109G=CA1918399682ADAMTS14c.3067+18G= (n.3067+18G=)
c.3076+18G= (n.3076+18G=)
c.2566+18G= (n.2566+18G=)
c.2140+18G= (n.2140+18G=)
c.1636+18G= (n.1636+18G=)
10g.70758109G>TCA929722591ADAMTS14c.3067+18G>T (n.3067+18G>T)
c.3076+18G>T (n.3076+18G>T)
c.2566+18G>T (n.2566+18G>T)
c.2140+18G>T (n.2140+18G>T)
c.1636+18G>T (n.1636+18G>T)
dbSNP gnomAD v3 gnomAD v4
10g.70758111G>TCA2529514548ADAMTS14c.3067+20G>T (n.3067+20G>T)
c.3076+20G>T (n.3076+20G>T)
c.2566+20G>T (n.2566+20G>T)
c.2140+20G>T (n.2140+20G>T)
c.1636+20G>T (n.1636+20G>T)
10g.70758115C>ACA2609526157ADAMTS14c.3067+24C>A (n.3067+24C>A)
c.3076+24C>A (n.3076+24C>A)
c.2566+24C>A (n.2566+24C>A)
c.2140+24C>A (n.2140+24C>A)
c.1636+24C>A (n.1636+24C>A)
gnomAD v4
10g.70758116C>ACA2523211629ADAMTS14c.3067+25C>A (n.3067+25C>A)
c.3076+25C>A (n.3076+25C>A)
c.2566+25C>A (n.2566+25C>A)
c.2140+25C>A (n.2140+25C>A)
c.1636+25C>A (n.1636+25C>A)
10g.70758116C>GCA2609526158ADAMTS14c.3067+25C>G (n.3067+25C>G)
c.3076+25C>G (n.3076+25C>G)
c.2566+25C>G (n.2566+25C>G)
c.2140+25C>G (n.2140+25C>G)
c.1636+25C>G (n.1636+25C>G)
gnomAD v4
10g.70758117_70758118delinsAGCA1918399683ADAMTS14c.3067+26_3067+27delinsAG (n.3067+26_3067+27delinsAG)
c.3076+26_3076+27delinsAG (n.3076+26_3076+27delinsAG)
c.2566+26_2566+27delinsAG (n.2566+26_2566+27delinsAG)
c.2140+26_2140+27delinsAG (n.2140+26_2140+27delinsAG)
c.1636+26_1636+27delinsAG (n.1636+26_1636+27delinsAG)
10g.70758119delCA594294180ADAMTS14c.3067+28del (n.3067+28del)
c.3076+28del (n.3076+28del)
c.2566+28del (n.2566+28del)
c.2140+28del (n.2140+28del)
c.1636+28del (n.1636+28del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758122_70758135delCA2574572676ADAMTS14c.3067+31_3068-40del (n.3067+31_3068-40del)
c.3076+31_3077-40del (n.3076+31_3077-40del)
c.2566+31_2567-40del (n.2566+31_2567-40del)
c.2140+31_2141-40del (n.2140+31_2141-40del)
c.1636+31_1637-40del (n.1636+31_1637-40del)
10g.70758122C>GCA2609526163ADAMTS14c.3067+31C>G (n.3067+31C>G)
c.3076+31C>G (n.3076+31C>G)
c.2566+31C>G (n.2566+31C>G)
c.2140+31C>G (n.2140+31C>G)
c.1636+31C>G (n.1636+31C>G)
gnomAD v4
10g.70758122C>TCA2609526164ADAMTS14c.3067+31C>T (n.3067+31C>T)
c.3076+31C>T (n.3076+31C>T)
c.2566+31C>T (n.2566+31C>T)
c.2140+31C>T (n.2140+31C>T)
c.1636+31C>T (n.1636+31C>T)
gnomAD v4
10g.70758123A=CA1918399684ADAMTS14c.3067+32A= (n.3067+32A=)
c.3076+32A= (n.3076+32A=)
c.2566+32A= (n.2566+32A=)
c.2140+32A= (n.2140+32A=)
c.1636+32A= (n.1636+32A=)
10g.70758123A>CCA5540325ADAMTS14c.3067+32A>C (n.3067+32A>C)
c.3076+32A>C (n.3076+32A>C)
c.2566+32A>C (n.2566+32A>C)
c.2140+32A>C (n.2140+32A>C)
c.1636+32A>C (n.1636+32A>C)
dbSNP ExAC gnomAD v2
10g.70758125T>ACA2609526166ADAMTS14c.3067+34T>A (n.3067+34T>A)
c.3076+34T>A (n.3076+34T>A)
c.2566+34T>A (n.2566+34T>A)
c.2140+34T>A (n.2140+34T>A)
c.1636+34T>A (n.1636+34T>A)
gnomAD v4
10g.70758126C>ACA594294183ADAMTS14c.3067+35C>A (n.3067+35C>A)
c.3076+35C>A (n.3076+35C>A)
c.2566+35C>A (n.2566+35C>A)
c.2140+35C>A (n.2140+35C>A)
c.1636+35C>A (n.1636+35C>A)
dbSNP gnomAD v2
10g.70758126C=CA1918399685ADAMTS14c.3067+35C= (n.3067+35C=)
c.3076+35C= (n.3076+35C=)
c.2566+35C= (n.2566+35C=)
c.2140+35C= (n.2140+35C=)
c.1636+35C= (n.1636+35C=)
10g.70758126C>GCA2788451772ADAMTS14c.3067+35C>G (n.3067+35C>G)
c.3076+35C>G (n.3076+35C>G)
c.2566+35C>G (n.2566+35C>G)
c.2140+35C>G (n.2140+35C>G)
c.1636+35C>G (n.1636+35C>G)
10g.70758126C>TCA5540326ADAMTS14c.3067+35C>T (n.3067+35C>T)
c.3076+35C>T (n.3076+35C>T)
c.2566+35C>T (n.2566+35C>T)
c.2140+35C>T (n.2140+35C>T)
c.1636+35C>T (n.1636+35C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.70758127C=CA1918399686ADAMTS14c.3067+36C= (n.3067+36C=)
c.3076+36C= (n.3076+36C=)
c.2566+36C= (n.2566+36C=)
c.2140+36C= (n.2140+36C=)
c.1636+36C= (n.1636+36C=)
10g.70758127C>GCA5540327ADAMTS14c.3067+36C>G (n.3067+36C>G)
c.3076+36C>G (n.3076+36C>G)
c.2566+36C>G (n.2566+36C>G)
c.2140+36C>G (n.2140+36C>G)
c.1636+36C>G (n.1636+36C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.70758129T>CCA594294185ADAMTS14c.3067+38T>C (n.3067+38T>C)
c.3076+38T>C (n.3076+38T>C)
c.2566+38T>C (n.2566+38T>C)
c.2140+38T>C (n.2140+38T>C)
c.1636+38T>C (n.1636+38T>C)
dbSNP gnomAD v2 gnomAD v4
10g.70758129T=CA1918399687ADAMTS14c.3067+38T= (n.3067+38T=)
c.3076+38T= (n.3076+38T=)
c.2566+38T= (n.2566+38T=)
c.2140+38T= (n.2140+38T=)
c.1636+38T= (n.1636+38T=)
10g.70758130T>CCA5540328ADAMTS14c.3067+39T>C (n.3067+39T>C)
c.3076+39T>C (n.3076+39T>C)
c.2566+39T>C (n.2566+39T>C)
c.2140+39T>C (n.2140+39T>C)
c.1636+39T>C (n.1636+39T>C)
dbSNP ExAC gnomAD v3 gnomAD v4
10g.70758130T>GCA2609526172ADAMTS14c.3067+39T>G (n.3067+39T>G)
c.3076+39T>G (n.3076+39T>G)
c.2566+39T>G (n.2566+39T>G)
c.2140+39T>G (n.2140+39T>G)
c.1636+39T>G (n.1636+39T>G)
gnomAD v4
10g.70758130T=CA1918399688ADAMTS14c.3067+39T= (n.3067+39T=)
c.3076+39T= (n.3076+39T=)
c.2566+39T= (n.2566+39T=)
c.2140+39T= (n.2140+39T=)
c.1636+39T= (n.1636+39T=)
10g.70758131G>CCA668031282ADAMTS14c.3067+40G>C (n.3067+40G>C)
c.3076+40G>C (n.3076+40G>C)
c.2566+40G>C (n.2566+40G>C)
c.2140+40G>C (n.2140+40G>C)
c.1636+40G>C (n.1636+40G>C)
dbSNP gnomAD v3 gnomAD v4
10g.70758131G=CA1918399689ADAMTS14c.3067+40G= (n.3067+40G=)
c.3076+40G= (n.3076+40G=)
c.2566+40G= (n.2566+40G=)
c.2140+40G= (n.2140+40G=)
c.1636+40G= (n.1636+40G=)
10g.70758133G>CCA594294187ADAMTS14c.3068-42G>C (n.3068-42G>C)
c.3077-42G>C (n.3077-42G>C)
c.2567-42G>C (n.2567-42G>C)
c.2141-42G>C (n.2141-42G>C)
c.1637-42G>C (n.1637-42G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758133G=CA1918399690ADAMTS14c.3068-42G= (n.3068-42G=)
c.3077-42G= (n.3077-42G=)
c.2567-42G= (n.2567-42G=)
c.2141-42G= (n.2141-42G=)
c.1637-42G= (n.1637-42G=)
10g.70758134C>TCA2609526174ADAMTS14c.3068-41C>T (n.3068-41C>T)
c.3077-41C>T (n.3077-41C>T)
c.2567-41C>T (n.2567-41C>T)
c.2141-41C>T (n.2141-41C>T)
c.1637-41C>T (n.1637-41C>T)
gnomAD v4
10g.70758135C=CA1918399691ADAMTS14c.3068-40C= (n.3068-40C=)
c.3077-40C= (n.3077-40C=)
c.2567-40C= (n.2567-40C=)
c.2141-40C= (n.2141-40C=)
c.1637-40C= (n.1637-40C=)
10g.70758135C>TCA668031284ADAMTS14c.3068-40C>T (n.3068-40C>T)
c.3077-40C>T (n.3077-40C>T)
c.2567-40C>T (n.2567-40C>T)
c.2141-40C>T (n.2141-40C>T)
c.1637-40C>T (n.1637-40C>T)
dbSNP
10g.70758136A=CA1918399692ADAMTS14c.3068-39A= (n.3068-39A=)
c.3077-39A= (n.3077-39A=)
c.2567-39A= (n.2567-39A=)
c.2141-39A= (n.2141-39A=)
c.1637-39A= (n.1637-39A=)
10g.70758136A>GCA594294188ADAMTS14c.3068-39A>G (n.3068-39A>G)
c.3077-39A>G (n.3077-39A>G)
c.2567-39A>G (n.2567-39A>G)
c.2141-39A>G (n.2141-39A>G)
c.1637-39A>G (n.1637-39A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.70758138A>GCA2609526178ADAMTS14c.3068-37A>G (n.3068-37A>G)
c.3077-37A>G (n.3077-37A>G)
c.2567-37A>G (n.2567-37A>G)
c.2141-37A>G (n.2141-37A>G)
c.1637-37A>G (n.1637-37A>G)
gnomAD v4
10g.70758139G>ACA2609526180ADAMTS14c.3068-36G>A (n.3068-36G>A)
c.3077-36G>A (n.3077-36G>A)
c.2567-36G>A (n.2567-36G>A)
c.2141-36G>A (n.2141-36G>A)
c.1637-36G>A (n.1637-36G>A)
gnomAD v4

Number of alleles fetched