Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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=) | |
10 | g.70758085T>A | CA377109023 | ADAMTS14 | c.3061T>A (p.Cys1021Ser) c.3070T>A (p.Cys1024Ser) c.2560T>A (p.Cys854Ser) c.2134T>A (p.Cys712Ser) c.1630T>A (p.Cys544Ser) | |
10 | g.70758085T>C | CA377109024 | ADAMTS14 | c.3061T>C (p.Cys1021Arg) c.3070T>C (p.Cys1024Arg) c.2560T>C (p.Cys854Arg) c.2134T>C (p.Cys712Arg) c.1630T>C (p.Cys544Arg) | |
10 | g.70758085T>G | CA377109025 | ADAMTS14 | c.3061T>G (p.Cys1021Gly) c.3070T>G (p.Cys1024Gly) c.2560T>G (p.Cys854Gly) c.2134T>G (p.Cys712Gly) c.1630T>G (p.Cys544Gly) | |
10 | g.70758086G>A | CA377109026 | ADAMTS14 | c.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 |
10 | g.70758086G>C | CA377109028 | ADAMTS14 | c.3062G>C (p.Cys1021Ser) c.3071G>C (p.Cys1024Ser) c.2561G>C (p.Cys854Ser) c.2135G>C (p.Cys712Ser) c.1631G>C (p.Cys544Ser) | |
10 | g.70758086G= | CA1918399669 | ADAMTS14 | c.3062G= (p.Cys1021=) c.3071G= (p.Cys1024=) c.2561G= (p.Cys854=) c.2135G= (p.Cys712=) c.1631G= (p.Cys544=) | |
10 | g.70758086G>T | CA377109027 | ADAMTS14 | c.3062G>T (p.Cys1021Phe) c.3071G>T (p.Cys1024Phe) c.2561G>T (p.Cys854Phe) c.2135G>T (p.Cys712Phe) c.1631G>T (p.Cys544Phe) | |
10 | g.70758087T>A | CA377109029 | ADAMTS14 | c.3063T>A (p.Cys1021Ter) c.3072T>A (p.Cys1024Ter) c.2562T>A (p.Cys854Ter) c.2136T>A (p.Cys712Ter) c.1632T>A (p.Cys544Ter) | |
10 | g.70758087T>C | CA470056276 | ADAMTS14 | c.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 |
10 | g.70758087T>G | CA377109030 | ADAMTS14 | c.3063T>G (p.Cys1021Trp) c.3072T>G (p.Cys1024Trp) c.2562T>G (p.Cys854Trp) c.2136T>G (p.Cys712Trp) c.1632T>G (p.Cys544Trp) | |
10 | g.70758087T= | CA1918399670 | ADAMTS14 | c.3063T= (p.Cys1021=) c.3072T= (p.Cys1024=) c.2562T= (p.Cys854=) c.2136T= (p.Cys712=) c.1632T= (p.Cys544=) | |
10 | g.70758088G>A | CA377109031 | ADAMTS14 | c.3064G>A (p.Gly1022Arg) c.3073G>A (p.Gly1025Arg) c.2563G>A (p.Gly855Arg) c.2137G>A (p.Gly713Arg) c.1633G>A (p.Gly545Arg) | |
10 | g.70758088G>C | CA377109032 | ADAMTS14 | c.3064G>C (p.Gly1022Arg) c.3073G>C (p.Gly1025Arg) c.2563G>C (p.Gly855Arg) c.2137G>C (p.Gly713Arg) c.1633G>C (p.Gly545Arg) | |
10 | g.70758088G>T | CA377109033 | ADAMTS14 | c.3064G>T (p.Gly1022Ter) c.3073G>T (p.Gly1025Ter) c.2563G>T (p.Gly855Ter) c.2137G>T (p.Gly713Ter) c.1633G>T (p.Gly545Ter) | |
10 | g.70758089G>A | CA377109034 | ADAMTS14 | c.3065G>A (p.Gly1022Glu) c.3074G>A (p.Gly1025Glu) c.2564G>A (p.Gly855Glu) c.2138G>A (p.Gly713Glu) c.1634G>A (p.Gly545Glu) | |
10 | g.70758089G>C | CA377109035 | ADAMTS14 | c.3065G>C (p.Gly1022Ala) c.3074G>C (p.Gly1025Ala) c.2564G>C (p.Gly855Ala) c.2138G>C (p.Gly713Ala) c.1634G>C (p.Gly545Ala) | |
10 | g.70758089G>T | CA377109036 | ADAMTS14 | c.3065G>T (p.Gly1022Val) c.3074G>T (p.Gly1025Val) c.2564G>T (p.Gly855Val) c.2138G>T (p.Gly713Val) c.1634G>T (p.Gly545Val) | |
10 | g.70758090A= | CA1918399671 | ADAMTS14 | c.3066A= (p.Gly1022=) c.3075A= (p.Gly1025=) c.2565A= (p.Gly855=) c.2139A= (p.Gly713=) c.1635A= (p.Gly545=) | |
10 | g.70758090A>C | CA470056277 | ADAMTS14 | c.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 |
10 | g.70758090A>G | CA470056278 | ADAMTS14 | c.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 |
10 | g.70758090A>T | CA470056279 | ADAMTS14 | c.3066A>T (p.Gly1022=) c.3075A>T (p.Gly1025=) c.2565A>T (p.Gly855=) c.2139A>T (p.Gly713=) c.1635A>T (p.Gly545=) | |
10 | g.70758091G>A | CA377109037 | ADAMTS14 | c.3067G>A (p.Gly1023Arg) c.3076G>A (p.Gly1026Arg) c.2566G>A (p.Gly856Arg) c.2140G>A (p.Gly714Arg) c.1636G>A (p.Gly546Arg) | |
10 | g.70758091G>C | CA377109038 | ADAMTS14 | c.3067G>C (p.Gly1023Arg) c.3076G>C (p.Gly1026Arg) c.2566G>C (p.Gly856Arg) c.2140G>C (p.Gly714Arg) c.1636G>C (p.Gly546Arg) | |
10 | g.70758091G>T | CA377109039 | ADAMTS14 | c.3067G>T (p.Gly1023Ter) c.3076G>T (p.Gly1026Ter) c.2566G>T (p.Gly856Ter) c.2140G>T (p.Gly714Ter) c.1636G>T (p.Gly546Ter) | |
10 | g.70758092G>A | CA377109042 | ADAMTS14 | c.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 |
10 | g.70758092G>C | CA377109041 | ADAMTS14 | c.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) | |
10 | g.70758092G>T | CA377109040 | ADAMTS14 | c.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) | |
10 | g.70758093T>A | CA377109043 | ADAMTS14 | c.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) | |
10 | g.70758093T>C | CA5540322 | ADAMTS14 | c.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 |
10 | g.70758093T>G | CA377109044 | ADAMTS14 | c.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 |
10 | g.70758093T= | CA1918399672 | ADAMTS14 | c.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=) | |
10 | g.70758094G>A | CA5540323 | ADAMTS14 | c.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 |
10 | g.70758094G>C | CA1918399674 | ADAMTS14 | c.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 |
10 | g.70758094G= | CA1918399673 | ADAMTS14 | c.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=) | |
10 | g.70758096G>A | CA594294177 | ADAMTS14 | c.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 |
10 | g.70758096G>C | CA2788451771 | ADAMTS14 | c.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) | |
10 | g.70758096G= | CA1918399675 | ADAMTS14 | c.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=) | |
10 | g.70758097C>A | CA2609526149 | ADAMTS14 | c.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 |
10 | g.70758098C>A | CA929722585 | ADAMTS14 | c.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 |
10 | g.70758098C= | CA1918399676 | ADAMTS14 | c.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=) | |
10 | g.70758100G>C | CA594294178 | ADAMTS14 | c.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 |
10 | g.70758100G= | CA1918399677 | ADAMTS14 | c.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=) | |
10 | g.70758102G>T | CA2609526150 | ADAMTS14 | c.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 |
10 | g.70758103G= | CA1918399678 | ADAMTS14 | c.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=) | |
10 | g.70758103G>T | CA5540324 | ADAMTS14 | c.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 |
10 | g.70758105G>C | CA1918399680 | ADAMTS14 | c.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 |
10 | g.70758105G= | CA1918399679 | ADAMTS14 | c.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=) | |
10 | g.70758106A>G | CA2574572675 | ADAMTS14 | c.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) | |
10 | g.70758107T>C | CA2609526151 | ADAMTS14 | c.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 |
10 | g.70758108G>A | CA668031256 | ADAMTS14 | c.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 |
10 | g.70758108G= | CA1918399681 | ADAMTS14 | c.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=) | |
10 | g.70758109G>A | CA2609526154 | ADAMTS14 | c.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 |
10 | g.70758109G>C | CA2609526155 | ADAMTS14 | c.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 |
10 | g.70758109G= | CA1918399682 | ADAMTS14 | c.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=) | |
10 | g.70758109G>T | CA929722591 | ADAMTS14 | c.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 |
10 | g.70758111G>T | CA2529514548 | ADAMTS14 | c.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) | |
10 | g.70758115C>A | CA2609526157 | ADAMTS14 | c.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 |
10 | g.70758116C>A | CA2523211629 | ADAMTS14 | c.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) | |
10 | g.70758116C>G | CA2609526158 | ADAMTS14 | c.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 |
10 | g.70758117_70758118delinsAG | CA1918399683 | ADAMTS14 | c.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) | |
10 | g.70758119del | CA594294180 | ADAMTS14 | c.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 |
10 | g.70758122_70758135del | CA2574572676 | ADAMTS14 | c.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) | |
10 | g.70758122C>G | CA2609526163 | ADAMTS14 | c.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 |
10 | g.70758122C>T | CA2609526164 | ADAMTS14 | c.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 |
10 | g.70758123A= | CA1918399684 | ADAMTS14 | c.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=) | |
10 | g.70758123A>C | CA5540325 | ADAMTS14 | c.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 |
10 | g.70758125T>A | CA2609526166 | ADAMTS14 | c.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 |
10 | g.70758126C>A | CA594294183 | ADAMTS14 | c.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 |
10 | g.70758126C= | CA1918399685 | ADAMTS14 | c.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=) | |
10 | g.70758126C>G | CA2788451772 | ADAMTS14 | c.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) | |
10 | g.70758126C>T | CA5540326 | ADAMTS14 | c.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 |
10 | g.70758127C= | CA1918399686 | ADAMTS14 | c.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=) | |
10 | g.70758127C>G | CA5540327 | ADAMTS14 | c.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 |
10 | g.70758129T>C | CA594294185 | ADAMTS14 | c.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 |
10 | g.70758129T= | CA1918399687 | ADAMTS14 | c.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=) | |
10 | g.70758130T>C | CA5540328 | ADAMTS14 | c.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 |
10 | g.70758130T>G | CA2609526172 | ADAMTS14 | c.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 |
10 | g.70758130T= | CA1918399688 | ADAMTS14 | c.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=) | |
10 | g.70758131G>C | CA668031282 | ADAMTS14 | c.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 |
10 | g.70758131G= | CA1918399689 | ADAMTS14 | c.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=) | |
10 | g.70758133G>C | CA594294187 | ADAMTS14 | c.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 |
10 | g.70758133G= | CA1918399690 | ADAMTS14 | c.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=) | |
10 | g.70758134C>T | CA2609526174 | ADAMTS14 | c.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 |
10 | g.70758135C= | CA1918399691 | ADAMTS14 | c.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=) | |
10 | g.70758135C>T | CA668031284 | ADAMTS14 | c.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 |
10 | g.70758136A= | CA1918399692 | ADAMTS14 | c.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=) | |
10 | g.70758136A>G | CA594294188 | ADAMTS14 | c.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 |
10 | g.70758138A>G | CA2609526178 | ADAMTS14 | c.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 |
10 | g.70758139G>A | CA2609526180 | ADAMTS14 | c.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 |
10 | g.70758143C= | CA1918399693 | ADAMTS14 | c.3068-32C= (n.3068-32C=) c.3077-32C= (n.3077-32C=) c.2567-32C= (n.2567-32C=) c.2141-32C= (n.2141-32C=) c.1637-32C= (n.1637-32C=) | |
10 | g.70758143C>T | CA1918399694 | ADAMTS14 | c.3068-32C>T (n.3068-32C>T) c.3077-32C>T (n.3077-32C>T) c.2567-32C>T (n.2567-32C>T) c.2141-32C>T (n.2141-32C>T) c.1637-32C>T (n.1637-32C>T) | dbSNP gnomAD v4 |
10 | g.70758145A>G | CA2574572678 | ADAMTS14 | c.3068-30A>G (n.3068-30A>G) c.3077-30A>G (n.3077-30A>G) c.2567-30A>G (n.2567-30A>G) c.2141-30A>G (n.2141-30A>G) c.1637-30A>G (n.1637-30A>G) | |
10 | g.70758146A>G | CA2609526183 | ADAMTS14 | c.3068-29A>G (n.3068-29A>G) c.3077-29A>G (n.3077-29A>G) c.2567-29A>G (n.2567-29A>G) c.2141-29A>G (n.2141-29A>G) c.1637-29A>G (n.1637-29A>G) | gnomAD v4 |