Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.8584907C>A | CA403748074 | ADAMTS10 | c.3190G>T (p.Asp1064Tyr) c.*2067G>T (n.*2067G>T) c.1651G>T (p.Asp551Tyr) c.2233G>T (p.Asp745Tyr) c.3337G>T (p.Asp1113Tyr) c.3013G>T (p.Asp1005Tyr) c.1906G>T (p.Asp636Tyr) c.1900G>T (p.Asp634Tyr) c.1759G>T (p.Asp587Tyr) c.1753G>T (p.Asp585Tyr) | gnomAD v4 |
19 | g.8584907C= | CA2321496525 | ADAMTS10 | c.3190G= (p.Asp1064=) c.*2067G= (n.*2067G=) c.1651G= (p.Asp551=) c.2233G= (p.Asp745=) c.3337G= (p.Asp1113=) c.3013G= (p.Asp1005=) c.1906G= (p.Asp636=) c.1900G= (p.Asp634=) c.1759G= (p.Asp587=) c.1753G= (p.Asp585=) | |
19 | g.8584907C>G | CA403748075 | ADAMTS10 | c.3190G>C (p.Asp1064His) c.*2067G>C (n.*2067G>C) c.1651G>C (p.Asp551His) c.2233G>C (p.Asp745His) c.3337G>C (p.Asp1113His) c.3013G>C (p.Asp1005His) c.1906G>C (p.Asp636His) c.1900G>C (p.Asp634His) c.1759G>C (p.Asp587His) c.1753G>C (p.Asp585His) | |
19 | g.8584907C>T | CA403748076 | ADAMTS10 | c.3190G>A (p.Asp1064Asn) c.*2067G>A (n.*2067G>A) c.1651G>A (p.Asp551Asn) c.2233G>A (p.Asp745Asn) c.3337G>A (p.Asp1113Asn) c.3013G>A (p.Asp1005Asn) c.1906G>A (p.Asp636Asn) c.1900G>A (p.Asp634Asn) c.1759G>A (p.Asp587Asn) c.1753G>A (p.Asp585Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584908C>A | CA505266482 | ADAMTS10 | c.3189G>T (p.Gly1063=) c.*2066G>T (n.*2066G>T) c.1650G>T (p.Gly550=) c.2232G>T (p.Gly744=) c.3336G>T (p.Gly1112=) c.3012G>T (p.Gly1004=) c.1905G>T (p.Gly635=) c.1899G>T (p.Gly633=) c.1758G>T (p.Gly586=) c.1752G>T (p.Gly584=) | |
19 | g.8584908C= | CA2321496526 | ADAMTS10 | c.3189G= (p.Gly1063=) c.*2066G= (n.*2066G=) c.1650G= (p.Gly550=) c.2232G= (p.Gly744=) c.3336G= (p.Gly1112=) c.3012G= (p.Gly1004=) c.1905G= (p.Gly635=) c.1899G= (p.Gly633=) c.1758G= (p.Gly586=) c.1752G= (p.Gly584=) | |
19 | g.8584908C>G | CA505266483 | ADAMTS10 | c.3189G>C (p.Gly1063=) c.*2066G>C (n.*2066G>C) c.1650G>C (p.Gly550=) c.2232G>C (p.Gly744=) c.3336G>C (p.Gly1112=) c.3012G>C (p.Gly1004=) c.1905G>C (p.Gly635=) c.1899G>C (p.Gly633=) c.1758G>C (p.Gly586=) c.1752G>C (p.Gly584=) | dbSNP gnomAD v4 |
19 | g.8584908C>T | CA505266485 | ADAMTS10 | c.3189G>A (p.Gly1063=) c.*2066G>A (n.*2066G>A) c.1650G>A (p.Gly550=) c.2232G>A (p.Gly744=) c.3336G>A (p.Gly1112=) c.3012G>A (p.Gly1004=) c.1905G>A (p.Gly635=) c.1899G>A (p.Gly633=) c.1758G>A (p.Gly586=) c.1752G>A (p.Gly584=) | gnomAD v4 |
19 | g.8584909C>A | CA403748077 | ADAMTS10 | c.3188G>T (p.Gly1063Val) c.*2065G>T (n.*2065G>T) c.1649G>T (p.Gly550Val) c.2231G>T (p.Gly744Val) c.3335G>T (p.Gly1112Val) c.3011G>T (p.Gly1004Val) c.1904G>T (p.Gly635Val) c.1898G>T (p.Gly633Val) c.1757G>T (p.Gly586Val) c.1751G>T (p.Gly584Val) | ClinVar gnomAD v4 |
19 | g.8584909C= | CA2321496527 | ADAMTS10 | c.3188G= (p.Gly1063=) c.*2065G= (n.*2065G=) c.1649G= (p.Gly550=) c.2231G= (p.Gly744=) c.3335G= (p.Gly1112=) c.3011G= (p.Gly1004=) c.1904G= (p.Gly635=) c.1898G= (p.Gly633=) c.1757G= (p.Gly586=) c.1751G= (p.Gly584=) | |
19 | g.8584909C>G | CA403748078 | ADAMTS10 | c.3188G>C (p.Gly1063Ala) c.*2065G>C (n.*2065G>C) c.1649G>C (p.Gly550Ala) c.2231G>C (p.Gly744Ala) c.3335G>C (p.Gly1112Ala) c.3011G>C (p.Gly1004Ala) c.1904G>C (p.Gly635Ala) c.1898G>C (p.Gly633Ala) c.1757G>C (p.Gly586Ala) c.1751G>C (p.Gly584Ala) | |
19 | g.8584909C>T | CA9159968 | ADAMTS10 | c.3188G>A (p.Gly1063Glu) c.*2065G>A (n.*2065G>A) c.1649G>A (p.Gly550Glu) c.2231G>A (p.Gly744Glu) c.3335G>A (p.Gly1112Glu) c.3011G>A (p.Gly1004Glu) c.1904G>A (p.Gly635Glu) c.1898G>A (p.Gly633Glu) c.1757G>A (p.Gly586Glu) c.1751G>A (p.Gly584Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.8584910C>A | CA403748079 | ADAMTS10 | c.3187G>T (p.Gly1063Trp) c.*2064G>T (n.*2064G>T) c.1648G>T (p.Gly550Trp) c.2230G>T (p.Gly744Trp) c.3334G>T (p.Gly1112Trp) c.3010G>T (p.Gly1004Trp) c.1903G>T (p.Gly635Trp) c.1897G>T (p.Gly633Trp) c.1756G>T (p.Gly586Trp) c.1750G>T (p.Gly584Trp) | |
19 | g.8584910C= | CA2321496528 | ADAMTS10 | c.3187G= (p.Gly1063=) c.*2064G= (n.*2064G=) c.1648G= (p.Gly550=) c.2230G= (p.Gly744=) c.3334G= (p.Gly1112=) c.3010G= (p.Gly1004=) c.1903G= (p.Gly635=) c.1897G= (p.Gly633=) c.1756G= (p.Gly586=) c.1750G= (p.Gly584=) | |
19 | g.8584910C>G | CA403748080 | ADAMTS10 | c.3187G>C (p.Gly1063Arg) c.*2064G>C (n.*2064G>C) c.1648G>C (p.Gly550Arg) c.2230G>C (p.Gly744Arg) c.3334G>C (p.Gly1112Arg) c.3010G>C (p.Gly1004Arg) c.1903G>C (p.Gly635Arg) c.1897G>C (p.Gly633Arg) c.1756G>C (p.Gly586Arg) c.1750G>C (p.Gly584Arg) | gnomAD v4 |
19 | g.8584910C>T | CA9159969 | ADAMTS10 | c.3187G>A (p.Gly1063Arg) c.*2064G>A (n.*2064G>A) c.1648G>A (p.Gly550Arg) c.2230G>A (p.Gly744Arg) c.3334G>A (p.Gly1112Arg) c.3010G>A (p.Gly1004Arg) c.1903G>A (p.Gly635Arg) c.1897G>A (p.Gly633Arg) c.1756G>A (p.Gly586Arg) c.1750G>A (p.Gly584Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8584911G>A | CA505266493 | ADAMTS10 | c.3186C>T (p.Pro1062=) c.*2063C>T (n.*2063C>T) c.1647C>T (p.Pro549=) c.2229C>T (p.Pro743=) c.3333C>T (p.Pro1111=) c.3009C>T (p.Pro1003=) c.1902C>T (p.Pro634=) c.1896C>T (p.Pro632=) c.1755C>T (p.Pro585=) c.1749C>T (p.Pro583=) | gnomAD v4 |
19 | g.8584911G>C | CA505266492 | ADAMTS10 | c.3186C>G (p.Pro1062=) c.*2063C>G (n.*2063C>G) c.1647C>G (p.Pro549=) c.2229C>G (p.Pro743=) c.3333C>G (p.Pro1111=) c.3009C>G (p.Pro1003=) c.1902C>G (p.Pro634=) c.1896C>G (p.Pro632=) c.1755C>G (p.Pro585=) c.1749C>G (p.Pro583=) | dbSNP |
19 | g.8584911G= | CA2321496529 | ADAMTS10 | c.3186C= (p.Pro1062=) c.*2063C= (n.*2063C=) c.1647C= (p.Pro549=) c.2229C= (p.Pro743=) c.3333C= (p.Pro1111=) c.3009C= (p.Pro1003=) c.1902C= (p.Pro634=) c.1896C= (p.Pro632=) c.1755C= (p.Pro585=) c.1749C= (p.Pro583=) | |
19 | g.8584911G>T | CA505266494 | ADAMTS10 | c.3186C>A (p.Pro1062=) c.*2063C>A (n.*2063C>A) c.1647C>A (p.Pro549=) c.2229C>A (p.Pro743=) c.3333C>A (p.Pro1111=) c.3009C>A (p.Pro1003=) c.1902C>A (p.Pro634=) c.1896C>A (p.Pro632=) c.1755C>A (p.Pro585=) c.1749C>A (p.Pro583=) | gnomAD v4 |
19 | g.8584915dup | CA2813516452 | ADAMTS10 | c.3186dup (p.Gly1063ArgfsTer5) c.*2063dup (n.*2063dup) c.1647dup (p.Gly550ArgfsTer5) c.2229dup (p.Gly744ArgfsTer5) c.3333dup (p.Gly1112ArgfsTer5) c.3009dup (p.Gly1004ArgfsTer5) c.1902dup (p.Gly635ArgfsTer5) c.1896dup (p.Gly633ArgfsTer5) c.1755dup (p.Gly586ArgfsTer5) c.1749dup (p.Gly584ArgfsTer5) | |
19 | g.8584915del | CA2588116339 | ADAMTS10 | c.3186del (p.Asp1064ThrfsTer9) c.*2063del (n.*2063del) c.1647del (p.Asp551ThrfsTer9) c.2229del (p.Asp745ThrfsTer9) c.3333del (p.Asp1113ThrfsTer9) c.3009del (p.Asp1005ThrfsTer9) c.1902del (p.Asp636ThrfsTer9) c.1896del (p.Asp634ThrfsTer9) c.1755del (p.Asp587ThrfsTer9) c.1749del (p.Asp585ThrfsTer9) | gnomAD v4 |
19 | g.8584914_8584920del | CA2588116340 | ADAMTS10 | c.3180_3186del (p.Thr1061GlyfsTer10) c.*2057_*2063del (n.*2057_*2063del) c.1641_1647del (p.Thr548GlyfsTer10) c.2223_2229del (p.Thr742GlyfsTer10) c.3327_3333del (p.Thr1110GlyfsTer10) c.3003_3009del (p.Thr1002GlyfsTer10) c.1896_1902del (p.Thr633GlyfsTer10) c.1890_1896del (p.Thr631GlyfsTer10) c.1749_1755del (p.Thr584GlyfsTer10) c.1743_1749del (p.Thr582GlyfsTer10) | gnomAD v4 |
19 | g.8584912G>A | CA403748081 | ADAMTS10 | c.3185C>T (p.Pro1062Leu) c.*2062C>T (n.*2062C>T) c.1646C>T (p.Pro549Leu) c.2228C>T (p.Pro743Leu) c.3332C>T (p.Pro1111Leu) c.3008C>T (p.Pro1003Leu) c.1901C>T (p.Pro634Leu) c.1895C>T (p.Pro632Leu) c.1754C>T (p.Pro585Leu) c.1748C>T (p.Pro583Leu) | |
19 | g.8584912G>C | CA403748082 | ADAMTS10 | c.3185C>G (p.Pro1062Arg) c.*2062C>G (n.*2062C>G) c.1646C>G (p.Pro549Arg) c.2228C>G (p.Pro743Arg) c.3332C>G (p.Pro1111Arg) c.3008C>G (p.Pro1003Arg) c.1901C>G (p.Pro634Arg) c.1895C>G (p.Pro632Arg) c.1754C>G (p.Pro585Arg) c.1748C>G (p.Pro583Arg) | |
19 | g.8584912G>T | CA403748083 | ADAMTS10 | c.3185C>A (p.Pro1062His) c.*2062C>A (n.*2062C>A) c.1646C>A (p.Pro549His) c.2228C>A (p.Pro743His) c.3332C>A (p.Pro1111His) c.3008C>A (p.Pro1003His) c.1901C>A (p.Pro634His) c.1895C>A (p.Pro632His) c.1754C>A (p.Pro585His) c.1748C>A (p.Pro583His) | |
19 | g.8584913G>A | CA403748084 | ADAMTS10 | c.3184C>T (p.Pro1062Ser) c.*2061C>T (n.*2061C>T) c.1645C>T (p.Pro549Ser) c.2227C>T (p.Pro743Ser) c.3331C>T (p.Pro1111Ser) c.3007C>T (p.Pro1003Ser) c.1900C>T (p.Pro634Ser) c.1894C>T (p.Pro632Ser) c.1753C>T (p.Pro585Ser) c.1747C>T (p.Pro583Ser) | dbSNP gnomAD v2 |
19 | g.8584913G>C | CA403748085 | ADAMTS10 | c.3184C>G (p.Pro1062Ala) c.*2061C>G (n.*2061C>G) c.1645C>G (p.Pro549Ala) c.2227C>G (p.Pro743Ala) c.3331C>G (p.Pro1111Ala) c.3007C>G (p.Pro1003Ala) c.1900C>G (p.Pro634Ala) c.1894C>G (p.Pro632Ala) c.1753C>G (p.Pro585Ala) c.1747C>G (p.Pro583Ala) | dbSNP gnomAD v4 |
19 | g.8584913G= | CA2321496530 | ADAMTS10 | c.3184C= (p.Pro1062=) c.*2061C= (n.*2061C=) c.1645C= (p.Pro549=) c.2227C= (p.Pro743=) c.3331C= (p.Pro1111=) c.3007C= (p.Pro1003=) c.1900C= (p.Pro634=) c.1894C= (p.Pro632=) c.1753C= (p.Pro585=) c.1747C= (p.Pro583=) | |
19 | g.8584913G>T | CA403748086 | ADAMTS10 | c.3184C>A (p.Pro1062Thr) c.*2061C>A (n.*2061C>A) c.1645C>A (p.Pro549Thr) c.2227C>A (p.Pro743Thr) c.3331C>A (p.Pro1111Thr) c.3007C>A (p.Pro1003Thr) c.1900C>A (p.Pro634Thr) c.1894C>A (p.Pro632Thr) c.1753C>A (p.Pro585Thr) c.1747C>A (p.Pro583Thr) | gnomAD v4 |
19 | g.8584914G>A | CA505266500 | ADAMTS10 | c.3183C>T (p.Thr1061=) c.*2060C>T (n.*2060C>T) c.1644C>T (p.Thr548=) c.2226C>T (p.Thr742=) c.3330C>T (p.Thr1110=) c.3006C>T (p.Thr1002=) c.1899C>T (p.Thr633=) c.1893C>T (p.Thr631=) c.1752C>T (p.Thr584=) c.1746C>T (p.Thr582=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584914G>C | CA505266501 | ADAMTS10 | c.3183C>G (p.Thr1061=) c.*2060C>G (n.*2060C>G) c.1644C>G (p.Thr548=) c.2226C>G (p.Thr742=) c.3330C>G (p.Thr1110=) c.3006C>G (p.Thr1002=) c.1899C>G (p.Thr633=) c.1893C>G (p.Thr631=) c.1752C>G (p.Thr584=) c.1746C>G (p.Thr582=) | gnomAD v4 |
19 | g.8584914G= | CA2321496531 | ADAMTS10 | c.3183C= (p.Thr1061=) c.*2060C= (n.*2060C=) c.1644C= (p.Thr548=) c.2226C= (p.Thr742=) c.3330C= (p.Thr1110=) c.3006C= (p.Thr1002=) c.1899C= (p.Thr633=) c.1893C= (p.Thr631=) c.1752C= (p.Thr584=) c.1746C= (p.Thr582=) | |
19 | g.8584914G>T | CA505266502 | ADAMTS10 | c.3183C>A (p.Thr1061=) c.*2060C>A (n.*2060C>A) c.1644C>A (p.Thr548=) c.2226C>A (p.Thr742=) c.3330C>A (p.Thr1110=) c.3006C>A (p.Thr1002=) c.1899C>A (p.Thr633=) c.1893C>A (p.Thr631=) c.1752C>A (p.Thr584=) c.1746C>A (p.Thr582=) | gnomAD v4 |
19 | g.8584915G>A | CA403748087 | ADAMTS10 | c.3182C>T (p.Thr1061Ile) c.*2059C>T (n.*2059C>T) c.1643C>T (p.Thr548Ile) c.2225C>T (p.Thr742Ile) c.3329C>T (p.Thr1110Ile) c.3005C>T (p.Thr1002Ile) c.1898C>T (p.Thr633Ile) c.1892C>T (p.Thr631Ile) c.1751C>T (p.Thr584Ile) c.1745C>T (p.Thr582Ile) | |
19 | g.8584915G>C | CA403748088 | ADAMTS10 | c.3182C>G (p.Thr1061Ser) c.*2059C>G (n.*2059C>G) c.1643C>G (p.Thr548Ser) c.2225C>G (p.Thr742Ser) c.3329C>G (p.Thr1110Ser) c.3005C>G (p.Thr1002Ser) c.1898C>G (p.Thr633Ser) c.1892C>G (p.Thr631Ser) c.1751C>G (p.Thr584Ser) c.1745C>G (p.Thr582Ser) | |
19 | g.8584915G= | CA2321496532 | ADAMTS10 | c.3182C= (p.Thr1061=) c.*2059C= (n.*2059C=) c.1643C= (p.Thr548=) c.2225C= (p.Thr742=) c.3329C= (p.Thr1110=) c.3005C= (p.Thr1002=) c.1898C= (p.Thr633=) c.1892C= (p.Thr631=) c.1751C= (p.Thr584=) c.1745C= (p.Thr582=) | |
19 | g.8584915G>T | CA304997180 | ADAMTS10 | c.3182C>A (p.Thr1061Asn) c.*2059C>A (n.*2059C>A) c.1643C>A (p.Thr548Asn) c.2225C>A (p.Thr742Asn) c.3329C>A (p.Thr1110Asn) c.3005C>A (p.Thr1002Asn) c.1898C>A (p.Thr633Asn) c.1892C>A (p.Thr631Asn) c.1751C>A (p.Thr584Asn) c.1745C>A (p.Thr582Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584916T>A | CA403748090 | ADAMTS10 | c.3181A>T (p.Thr1061Ser) c.*2058A>T (n.*2058A>T) c.1642A>T (p.Thr548Ser) c.2224A>T (p.Thr742Ser) c.3328A>T (p.Thr1110Ser) c.3004A>T (p.Thr1002Ser) c.1897A>T (p.Thr633Ser) c.1891A>T (p.Thr631Ser) c.1750A>T (p.Thr584Ser) c.1744A>T (p.Thr582Ser) | |
19 | g.8584916T>C | CA403748091 | ADAMTS10 | c.3181A>G (p.Thr1061Ala) c.*2058A>G (n.*2058A>G) c.1642A>G (p.Thr548Ala) c.2224A>G (p.Thr742Ala) c.3328A>G (p.Thr1110Ala) c.3004A>G (p.Thr1002Ala) c.1897A>G (p.Thr633Ala) c.1891A>G (p.Thr631Ala) c.1750A>G (p.Thr584Ala) c.1744A>G (p.Thr582Ala) | |
19 | g.8584916T>G | CA403748089 | ADAMTS10 | c.3181A>C (p.Thr1061Pro) c.*2058A>C (n.*2058A>C) c.1642A>C (p.Thr548Pro) c.2224A>C (p.Thr742Pro) c.3328A>C (p.Thr1110Pro) c.3004A>C (p.Thr1002Pro) c.1897A>C (p.Thr633Pro) c.1891A>C (p.Thr631Pro) c.1750A>C (p.Thr584Pro) c.1744A>C (p.Thr582Pro) | |
19 | g.8584917dup | CA2588116341 | ADAMTS10 | c.3181dup (p.Thr1061AsnfsTer7) c.*2058dup (n.*2058dup) c.1642dup (p.Thr548AsnfsTer7) c.2224dup (p.Thr742AsnfsTer7) c.3328dup (p.Thr1110AsnfsTer7) c.3004dup (p.Thr1002AsnfsTer7) c.1897dup (p.Thr633AsnfsTer7) c.1891dup (p.Thr631AsnfsTer7) c.1750dup (p.Thr584AsnfsTer7) c.1744dup (p.Thr582AsnfsTer7) | gnomAD v4 |
19 | g.8584917T>A | CA505266510 | ADAMTS10 | c.3180A>T (p.Pro1060=) c.*2057A>T (n.*2057A>T) c.1641A>T (p.Pro547=) c.2223A>T (p.Pro741=) c.3327A>T (p.Pro1109=) c.3003A>T (p.Pro1001=) c.1896A>T (p.Pro632=) c.1890A>T (p.Pro630=) c.1749A>T (p.Pro583=) c.1743A>T (p.Pro581=) | |
19 | g.8584917T>C | CA505266512 | ADAMTS10 | c.3180A>G (p.Pro1060=) c.*2057A>G (n.*2057A>G) c.1641A>G (p.Pro547=) c.2223A>G (p.Pro741=) c.3327A>G (p.Pro1109=) c.3003A>G (p.Pro1001=) c.1896A>G (p.Pro632=) c.1890A>G (p.Pro630=) c.1749A>G (p.Pro583=) c.1743A>G (p.Pro581=) | |
19 | g.8584917T>G | CA505266511 | ADAMTS10 | c.3180A>C (p.Pro1060=) c.*2057A>C (n.*2057A>C) c.1641A>C (p.Pro547=) c.2223A>C (p.Pro741=) c.3327A>C (p.Pro1109=) c.3003A>C (p.Pro1001=) c.1896A>C (p.Pro632=) c.1890A>C (p.Pro630=) c.1749A>C (p.Pro583=) c.1743A>C (p.Pro581=) | |
19 | g.8584918G>A | CA403748092 | ADAMTS10 | c.3179C>T (p.Pro1060Leu) c.*2056C>T (n.*2056C>T) c.1640C>T (p.Pro547Leu) c.2222C>T (p.Pro741Leu) c.3326C>T (p.Pro1109Leu) c.3002C>T (p.Pro1001Leu) c.1895C>T (p.Pro632Leu) c.1889C>T (p.Pro630Leu) c.1748C>T (p.Pro583Leu) c.1742C>T (p.Pro581Leu) | gnomAD v4 |
19 | g.8584918G>C | CA403748093 | ADAMTS10 | c.3179C>G (p.Pro1060Arg) c.*2056C>G (n.*2056C>G) c.1640C>G (p.Pro547Arg) c.2222C>G (p.Pro741Arg) c.3326C>G (p.Pro1109Arg) c.3002C>G (p.Pro1001Arg) c.1895C>G (p.Pro632Arg) c.1889C>G (p.Pro630Arg) c.1748C>G (p.Pro583Arg) c.1742C>G (p.Pro581Arg) | |
19 | g.8584918G>T | CA403748094 | ADAMTS10 | c.3179C>A (p.Pro1060Gln) c.*2056C>A (n.*2056C>A) c.1640C>A (p.Pro547Gln) c.2222C>A (p.Pro741Gln) c.3326C>A (p.Pro1109Gln) c.3002C>A (p.Pro1001Gln) c.1895C>A (p.Pro632Gln) c.1889C>A (p.Pro630Gln) c.1748C>A (p.Pro583Gln) c.1742C>A (p.Pro581Gln) | gnomAD v4 |
19 | g.8584919G>A | CA9159970 | ADAMTS10 | c.3178C>T (p.Pro1060Ser) c.*2055C>T (n.*2055C>T) c.1639C>T (p.Pro547Ser) c.2221C>T (p.Pro741Ser) c.3325C>T (p.Pro1109Ser) c.3001C>T (p.Pro1001Ser) c.1894C>T (p.Pro632Ser) c.1888C>T (p.Pro630Ser) c.1747C>T (p.Pro583Ser) c.1741C>T (p.Pro581Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584919G>C | CA403748095 | ADAMTS10 | c.3178C>G (p.Pro1060Ala) c.*2055C>G (n.*2055C>G) c.1639C>G (p.Pro547Ala) c.2221C>G (p.Pro741Ala) c.3325C>G (p.Pro1109Ala) c.3001C>G (p.Pro1001Ala) c.1894C>G (p.Pro632Ala) c.1888C>G (p.Pro630Ala) c.1747C>G (p.Pro583Ala) c.1741C>G (p.Pro581Ala) | |
19 | g.8584919G= | CA2321496533 | ADAMTS10 | c.3178C= (p.Pro1060=) c.*2055C= (n.*2055C=) c.1639C= (p.Pro547=) c.2221C= (p.Pro741=) c.3325C= (p.Pro1109=) c.3001C= (p.Pro1001=) c.1894C= (p.Pro632=) c.1888C= (p.Pro630=) c.1747C= (p.Pro583=) c.1741C= (p.Pro581=) | |
19 | g.8584919G>T | CA403748096 | ADAMTS10 | c.3178C>A (p.Pro1060Thr) c.*2055C>A (n.*2055C>A) c.1639C>A (p.Pro547Thr) c.2221C>A (p.Pro741Thr) c.3325C>A (p.Pro1109Thr) c.3001C>A (p.Pro1001Thr) c.1894C>A (p.Pro632Thr) c.1888C>A (p.Pro630Thr) c.1747C>A (p.Pro583Thr) c.1741C>A (p.Pro581Thr) | |
19 | g.8584920G>A | CA505266518 | ADAMTS10 | c.3177C>T (p.Ser1059=) c.*2054C>T (n.*2054C>T) c.1638C>T (p.Ser546=) c.2220C>T (p.Ser740=) c.3324C>T (p.Ser1108=) c.3000C>T (p.Ser1000=) c.1893C>T (p.Ser631=) c.1887C>T (p.Ser629=) c.1746C>T (p.Ser582=) c.1740C>T (p.Ser580=) | gnomAD v4 |
19 | g.8584920G>C | CA403748097 | ADAMTS10 | c.3177C>G (p.Ser1059Arg) c.*2054C>G (n.*2054C>G) c.1638C>G (p.Ser546Arg) c.2220C>G (p.Ser740Arg) c.3324C>G (p.Ser1108Arg) c.3000C>G (p.Ser1000Arg) c.1893C>G (p.Ser631Arg) c.1887C>G (p.Ser629Arg) c.1746C>G (p.Ser582Arg) c.1740C>G (p.Ser580Arg) | |
19 | g.8584920G>T | CA403748098 | ADAMTS10 | c.3177C>A (p.Ser1059Arg) c.*2054C>A (n.*2054C>A) c.1638C>A (p.Ser546Arg) c.2220C>A (p.Ser740Arg) c.3324C>A (p.Ser1108Arg) c.3000C>A (p.Ser1000Arg) c.1893C>A (p.Ser631Arg) c.1887C>A (p.Ser629Arg) c.1746C>A (p.Ser582Arg) c.1740C>A (p.Ser580Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.8584921C>A | CA403748099 | ADAMTS10 | c.3176G>T (p.Ser1059Ile) c.*2053G>T (n.*2053G>T) c.1637G>T (p.Ser546Ile) c.2219G>T (p.Ser740Ile) c.3323G>T (p.Ser1108Ile) c.2999G>T (p.Ser1000Ile) c.1892G>T (p.Ser631Ile) c.1886G>T (p.Ser629Ile) c.1745G>T (p.Ser582Ile) c.1739G>T (p.Ser580Ile) | |
19 | g.8584921C>G | CA403748100 | ADAMTS10 | c.3176G>C (p.Ser1059Thr) c.*2053G>C (n.*2053G>C) c.1637G>C (p.Ser546Thr) c.2219G>C (p.Ser740Thr) c.3323G>C (p.Ser1108Thr) c.2999G>C (p.Ser1000Thr) c.1892G>C (p.Ser631Thr) c.1886G>C (p.Ser629Thr) c.1745G>C (p.Ser582Thr) c.1739G>C (p.Ser580Thr) | |
19 | g.8584921C>T | CA403748101 | ADAMTS10 | c.3176G>A (p.Ser1059Asn) c.*2053G>A (n.*2053G>A) c.1637G>A (p.Ser546Asn) c.2219G>A (p.Ser740Asn) c.3323G>A (p.Ser1108Asn) c.2999G>A (p.Ser1000Asn) c.1892G>A (p.Ser631Asn) c.1886G>A (p.Ser629Asn) c.1745G>A (p.Ser582Asn) c.1739G>A (p.Ser580Asn) | gnomAD v4 |
19 | g.8584922T>A | CA403748102 | ADAMTS10 | c.3175A>T (p.Ser1059Cys) c.*2052A>T (n.*2052A>T) c.1636A>T (p.Ser546Cys) c.2218A>T (p.Ser740Cys) c.3322A>T (p.Ser1108Cys) c.2998A>T (p.Ser1000Cys) c.1891A>T (p.Ser631Cys) c.1885A>T (p.Ser629Cys) c.1744A>T (p.Ser582Cys) c.1738A>T (p.Ser580Cys) | |
19 | g.8584922T>C | CA403748103 | ADAMTS10 | c.3175A>G (p.Ser1059Gly) c.*2052A>G (n.*2052A>G) c.1636A>G (p.Ser546Gly) c.2218A>G (p.Ser740Gly) c.3322A>G (p.Ser1108Gly) c.2998A>G (p.Ser1000Gly) c.1891A>G (p.Ser631Gly) c.1885A>G (p.Ser629Gly) c.1744A>G (p.Ser582Gly) c.1738A>G (p.Ser580Gly) | gnomAD v4 |
19 | g.8584922T>G | CA403748104 | ADAMTS10 | c.3175A>C (p.Ser1059Arg) c.*2052A>C (n.*2052A>C) c.1636A>C (p.Ser546Arg) c.2218A>C (p.Ser740Arg) c.3322A>C (p.Ser1108Arg) c.2998A>C (p.Ser1000Arg) c.1891A>C (p.Ser631Arg) c.1885A>C (p.Ser629Arg) c.1744A>C (p.Ser582Arg) c.1738A>C (p.Ser580Arg) | |
19 | g.8584923G>A | CA505266531 | ADAMTS10 | c.3174C>T (p.Asp1058=) c.*2051C>T (n.*2051C>T) c.1635C>T (p.Asp545=) c.2217C>T (p.Asp739=) c.3321C>T (p.Asp1107=) c.2997C>T (p.Asp999=) c.1890C>T (p.Asp630=) c.1884C>T (p.Asp628=) c.1743C>T (p.Asp581=) c.1737C>T (p.Asp579=) | |
19 | g.8584923G>C | CA403748105 | ADAMTS10 | c.3174C>G (p.Asp1058Glu) c.*2051C>G (n.*2051C>G) c.1635C>G (p.Asp545Glu) c.2217C>G (p.Asp739Glu) c.3321C>G (p.Asp1107Glu) c.2997C>G (p.Asp999Glu) c.1890C>G (p.Asp630Glu) c.1884C>G (p.Asp628Glu) c.1743C>G (p.Asp581Glu) c.1737C>G (p.Asp579Glu) | |
19 | g.8584923G>T | CA403748106 | ADAMTS10 | c.3174C>A (p.Asp1058Glu) c.*2051C>A (n.*2051C>A) c.1635C>A (p.Asp545Glu) c.2217C>A (p.Asp739Glu) c.3321C>A (p.Asp1107Glu) c.2997C>A (p.Asp999Glu) c.1890C>A (p.Asp630Glu) c.1884C>A (p.Asp628Glu) c.1743C>A (p.Asp581Glu) c.1737C>A (p.Asp579Glu) | gnomAD v4 |
19 | g.8584924T>A | CA403748107 | ADAMTS10 | c.3173A>T (p.Asp1058Val) c.*2050A>T (n.*2050A>T) c.1634A>T (p.Asp545Val) c.2216A>T (p.Asp739Val) c.3320A>T (p.Asp1107Val) c.2996A>T (p.Asp999Val) c.1889A>T (p.Asp630Val) c.1883A>T (p.Asp628Val) c.1742A>T (p.Asp581Val) c.1736A>T (p.Asp579Val) | gnomAD v4 |
19 | g.8584924T>C | CA403748109 | ADAMTS10 | c.3173A>G (p.Asp1058Gly) c.*2050A>G (n.*2050A>G) c.1634A>G (p.Asp545Gly) c.2216A>G (p.Asp739Gly) c.3320A>G (p.Asp1107Gly) c.2996A>G (p.Asp999Gly) c.1889A>G (p.Asp630Gly) c.1883A>G (p.Asp628Gly) c.1742A>G (p.Asp581Gly) c.1736A>G (p.Asp579Gly) | |
19 | g.8584924T>G | CA403748108 | ADAMTS10 | c.3173A>C (p.Asp1058Ala) c.*2050A>C (n.*2050A>C) c.1634A>C (p.Asp545Ala) c.2216A>C (p.Asp739Ala) c.3320A>C (p.Asp1107Ala) c.2996A>C (p.Asp999Ala) c.1889A>C (p.Asp630Ala) c.1883A>C (p.Asp628Ala) c.1742A>C (p.Asp581Ala) c.1736A>C (p.Asp579Ala) | |
19 | g.8584925C>A | CA403748110 | ADAMTS10 | c.3172G>T (p.Asp1058Tyr) c.*2049G>T (n.*2049G>T) c.1633G>T (p.Asp545Tyr) c.2215G>T (p.Asp739Tyr) c.3319G>T (p.Asp1107Tyr) c.2995G>T (p.Asp999Tyr) c.1888G>T (p.Asp630Tyr) c.1882G>T (p.Asp628Tyr) c.1741G>T (p.Asp581Tyr) c.1735G>T (p.Asp579Tyr) | gnomAD v4 COSMIC |
19 | g.8584925C= | CA2321496534 | ADAMTS10 | c.3172G= (p.Asp1058=) c.*2049G= (n.*2049G=) c.1633G= (p.Asp545=) c.2215G= (p.Asp739=) c.3319G= (p.Asp1107=) c.2995G= (p.Asp999=) c.1888G= (p.Asp630=) c.1882G= (p.Asp628=) c.1741G= (p.Asp581=) c.1735G= (p.Asp579=) | |
19 | g.8584925C>G | CA304997181 | ADAMTS10 | c.3172G>C (p.Asp1058His) c.*2049G>C (n.*2049G>C) c.1633G>C (p.Asp545His) c.2215G>C (p.Asp739His) c.3319G>C (p.Asp1107His) c.2995G>C (p.Asp999His) c.1888G>C (p.Asp630His) c.1882G>C (p.Asp628His) c.1741G>C (p.Asp581His) c.1735G>C (p.Asp579His) | ClinVar dbSNP gnomAD v4 |
19 | g.8584925C>T | CA403748111 | ADAMTS10 | c.3172G>A (p.Asp1058Asn) c.*2049G>A (n.*2049G>A) c.1633G>A (p.Asp545Asn) c.2215G>A (p.Asp739Asn) c.3319G>A (p.Asp1107Asn) c.2995G>A (p.Asp999Asn) c.1888G>A (p.Asp630Asn) c.1882G>A (p.Asp628Asn) c.1741G>A (p.Asp581Asn) c.1735G>A (p.Asp579Asn) | dbSNP gnomAD v4 |
19 | g.8584926G>A | CA505266545 | ADAMTS10 | c.3171C>T (p.Cys1057=) c.*2048C>T (n.*2048C>T) c.1632C>T (p.Cys544=) c.2214C>T (p.Cys738=) c.3318C>T (p.Cys1106=) c.2994C>T (p.Cys998=) c.1887C>T (p.Cys629=) c.1881C>T (p.Cys627=) c.1740C>T (p.Cys580=) c.1734C>T (p.Cys578=) | gnomAD v4 COSMIC |
19 | g.8584926G>C | CA403748112 | ADAMTS10 | c.3171C>G (p.Cys1057Trp) c.*2048C>G (n.*2048C>G) c.1632C>G (p.Cys544Trp) c.2214C>G (p.Cys738Trp) c.3318C>G (p.Cys1106Trp) c.2994C>G (p.Cys998Trp) c.1887C>G (p.Cys629Trp) c.1881C>G (p.Cys627Trp) c.1740C>G (p.Cys580Trp) c.1734C>G (p.Cys578Trp) | |
19 | g.8584926G>T | CA403748113 | ADAMTS10 | c.3171C>A (p.Cys1057Ter) c.*2048C>A (n.*2048C>A) c.1632C>A (p.Cys544Ter) c.2214C>A (p.Cys738Ter) c.3318C>A (p.Cys1106Ter) c.2994C>A (p.Cys998Ter) c.1887C>A (p.Cys629Ter) c.1881C>A (p.Cys627Ter) c.1740C>A (p.Cys580Ter) c.1734C>A (p.Cys578Ter) | gnomAD v4 |
19 | g.8584927C>A | CA403748114 | ADAMTS10 | c.3170G>T (p.Cys1057Phe) c.*2047G>T (n.*2047G>T) c.1631G>T (p.Cys544Phe) c.2213G>T (p.Cys738Phe) c.3317G>T (p.Cys1106Phe) c.2993G>T (p.Cys998Phe) c.1886G>T (p.Cys629Phe) c.1880G>T (p.Cys627Phe) c.1739G>T (p.Cys580Phe) c.1733G>T (p.Cys578Phe) | gnomAD v4 |
19 | g.8584927C>G | CA403748115 | ADAMTS10 | c.3170G>C (p.Cys1057Ser) c.*2047G>C (n.*2047G>C) c.1631G>C (p.Cys544Ser) c.2213G>C (p.Cys738Ser) c.3317G>C (p.Cys1106Ser) c.2993G>C (p.Cys998Ser) c.1886G>C (p.Cys629Ser) c.1880G>C (p.Cys627Ser) c.1739G>C (p.Cys580Ser) c.1733G>C (p.Cys578Ser) | |
19 | g.8584927C>T | CA403748116 | ADAMTS10 | c.3170G>A (p.Cys1057Tyr) c.*2047G>A (n.*2047G>A) c.1631G>A (p.Cys544Tyr) c.2213G>A (p.Cys738Tyr) c.3317G>A (p.Cys1106Tyr) c.2993G>A (p.Cys998Tyr) c.1886G>A (p.Cys629Tyr) c.1880G>A (p.Cys627Tyr) c.1739G>A (p.Cys580Tyr) c.1733G>A (p.Cys578Tyr) | gnomAD v4 |
19 | g.8584928A>C | CA403748117 | ADAMTS10 | c.3169T>G (p.Cys1057Gly) c.*2046T>G (n.*2046T>G) c.1630T>G (p.Cys544Gly) c.2212T>G (p.Cys738Gly) c.3316T>G (p.Cys1106Gly) c.2992T>G (p.Cys998Gly) c.1885T>G (p.Cys629Gly) c.1879T>G (p.Cys627Gly) c.1738T>G (p.Cys580Gly) c.1732T>G (p.Cys578Gly) | |
19 | g.8584928A>G | CA403748118 | ADAMTS10 | c.3169T>C (p.Cys1057Arg) c.*2046T>C (n.*2046T>C) c.1630T>C (p.Cys544Arg) c.2212T>C (p.Cys738Arg) c.3316T>C (p.Cys1106Arg) c.2992T>C (p.Cys998Arg) c.1885T>C (p.Cys629Arg) c.1879T>C (p.Cys627Arg) c.1738T>C (p.Cys580Arg) c.1732T>C (p.Cys578Arg) | |
19 | g.8584928A>T | CA403748119 | ADAMTS10 | c.3169T>A (p.Cys1057Ser) c.*2046T>A (n.*2046T>A) c.1630T>A (p.Cys544Ser) c.2212T>A (p.Cys738Ser) c.3316T>A (p.Cys1106Ser) c.2992T>A (p.Cys998Ser) c.1885T>A (p.Cys629Ser) c.1879T>A (p.Cys627Ser) c.1738T>A (p.Cys580Ser) c.1732T>A (p.Cys578Ser) | ClinVar |
19 | g.8584929C>A | CA403748120 | ADAMTS10 | c.3168G>T (p.Lys1056Asn) c.*2045G>T (n.*2045G>T) c.1629G>T (p.Lys543Asn) c.2211G>T (p.Lys737Asn) c.3315G>T (p.Lys1105Asn) c.2991G>T (p.Lys997Asn) c.1884G>T (p.Lys628Asn) c.1878G>T (p.Lys626Asn) c.1737G>T (p.Lys579Asn) c.1731G>T (p.Lys577Asn) | gnomAD v4 |
19 | g.8584929C>G | CA403748121 | ADAMTS10 | c.3168G>C (p.Lys1056Asn) c.*2045G>C (n.*2045G>C) c.1629G>C (p.Lys543Asn) c.2211G>C (p.Lys737Asn) c.3315G>C (p.Lys1105Asn) c.2991G>C (p.Lys997Asn) c.1884G>C (p.Lys628Asn) c.1878G>C (p.Lys626Asn) c.1737G>C (p.Lys579Asn) c.1731G>C (p.Lys577Asn) | gnomAD v4 |
19 | g.8584929C>T | CA505266552 | ADAMTS10 | c.3168G>A (p.Lys1056=) c.*2045G>A (n.*2045G>A) c.1629G>A (p.Lys543=) c.2211G>A (p.Lys737=) c.3315G>A (p.Lys1105=) c.2991G>A (p.Lys997=) c.1884G>A (p.Lys628=) c.1878G>A (p.Lys626=) c.1737G>A (p.Lys579=) c.1731G>A (p.Lys577=) | gnomAD v4 |
19 | g.8584930T>A | CA403748124 | ADAMTS10 | c.3167A>T (p.Lys1056Met) c.*2044A>T (n.*2044A>T) c.1628A>T (p.Lys543Met) c.2210A>T (p.Lys737Met) c.3314A>T (p.Lys1105Met) c.2990A>T (p.Lys997Met) c.1883A>T (p.Lys628Met) c.1877A>T (p.Lys626Met) c.1736A>T (p.Lys579Met) c.1730A>T (p.Lys577Met) | gnomAD v4 |
19 | g.8584930T>C | CA403748122 | ADAMTS10 | c.3167A>G (p.Lys1056Arg) c.*2044A>G (n.*2044A>G) c.1628A>G (p.Lys543Arg) c.2210A>G (p.Lys737Arg) c.3314A>G (p.Lys1105Arg) c.2990A>G (p.Lys997Arg) c.1883A>G (p.Lys628Arg) c.1877A>G (p.Lys626Arg) c.1736A>G (p.Lys579Arg) c.1730A>G (p.Lys577Arg) | |
19 | g.8584930T>G | CA403748123 | ADAMTS10 | c.3167A>C (p.Lys1056Thr) c.*2044A>C (n.*2044A>C) c.1628A>C (p.Lys543Thr) c.2210A>C (p.Lys737Thr) c.3314A>C (p.Lys1105Thr) c.2990A>C (p.Lys997Thr) c.1883A>C (p.Lys628Thr) c.1877A>C (p.Lys626Thr) c.1736A>C (p.Lys579Thr) c.1730A>C (p.Lys577Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8584930T= | CA2321496535 | ADAMTS10 | c.3167A= (p.Lys1056=) c.*2044A= (n.*2044A=) c.1628A= (p.Lys543=) c.2210A= (p.Lys737=) c.3314A= (p.Lys1105=) c.2990A= (p.Lys997=) c.1883A= (p.Lys628=) c.1877A= (p.Lys626=) c.1736A= (p.Lys579=) c.1730A= (p.Lys577=) | |
19 | g.8584931T>A | CA403748125 | ADAMTS10 | c.3166A>T (p.Lys1056Ter) c.*2043A>T (n.*2043A>T) c.1627A>T (p.Lys543Ter) c.2209A>T (p.Lys737Ter) c.3313A>T (p.Lys1105Ter) c.2989A>T (p.Lys997Ter) c.1882A>T (p.Lys628Ter) c.1876A>T (p.Lys626Ter) c.1735A>T (p.Lys579Ter) c.1729A>T (p.Lys577Ter) | gnomAD v4 |
19 | g.8584931T>C | CA403748126 | ADAMTS10 | c.3166A>G (p.Lys1056Glu) c.*2043A>G (n.*2043A>G) c.1627A>G (p.Lys543Glu) c.2209A>G (p.Lys737Glu) c.3313A>G (p.Lys1105Glu) c.2989A>G (p.Lys997Glu) c.1882A>G (p.Lys628Glu) c.1876A>G (p.Lys626Glu) c.1735A>G (p.Lys579Glu) c.1729A>G (p.Lys577Glu) | |
19 | g.8584931T>G | CA403748127 | ADAMTS10 | c.3166A>C (p.Lys1056Gln) c.*2043A>C (n.*2043A>C) c.1627A>C (p.Lys543Gln) c.2209A>C (p.Lys737Gln) c.3313A>C (p.Lys1105Gln) c.2989A>C (p.Lys997Gln) c.1882A>C (p.Lys628Gln) c.1876A>C (p.Lys626Gln) c.1735A>C (p.Lys579Gln) c.1729A>C (p.Lys577Gln) | |
19 | g.8584932G>A | CA505266560 | ADAMTS10 | c.3165C>T (p.Ala1055=) c.*2042C>T (n.*2042C>T) c.1626C>T (p.Ala542=) c.2208C>T (p.Ala736=) c.3312C>T (p.Ala1104=) c.2988C>T (p.Ala996=) c.1881C>T (p.Ala627=) c.1875C>T (p.Ala625=) c.1734C>T (p.Ala578=) c.1728C>T (p.Ala576=) | ClinVar gnomAD v4 |
19 | g.8584932G>C | CA505266558 | ADAMTS10 | c.3165C>G (p.Ala1055=) c.*2042C>G (n.*2042C>G) c.1626C>G (p.Ala542=) c.2208C>G (p.Ala736=) c.3312C>G (p.Ala1104=) c.2988C>G (p.Ala996=) c.1881C>G (p.Ala627=) c.1875C>G (p.Ala625=) c.1734C>G (p.Ala578=) c.1728C>G (p.Ala576=) | |
19 | g.8584932G>T | CA505266559 | ADAMTS10 | c.3165C>A (p.Ala1055=) c.*2042C>A (n.*2042C>A) c.1626C>A (p.Ala542=) c.2208C>A (p.Ala736=) c.3312C>A (p.Ala1104=) c.2988C>A (p.Ala996=) c.1881C>A (p.Ala627=) c.1875C>A (p.Ala625=) c.1734C>A (p.Ala578=) c.1728C>A (p.Ala576=) | gnomAD v4 |
19 | g.8584933G>A | CA403748128 | ADAMTS10 | c.3164C>T (p.Ala1055Val) c.*2041C>T (n.*2041C>T) c.1625C>T (p.Ala542Val) c.2207C>T (p.Ala736Val) c.3311C>T (p.Ala1104Val) c.2987C>T (p.Ala996Val) c.1880C>T (p.Ala627Val) c.1874C>T (p.Ala625Val) c.1733C>T (p.Ala578Val) c.1727C>T (p.Ala576Val) | gnomAD v4 |
19 | g.8584933G>C | CA403748129 | ADAMTS10 | c.3164C>G (p.Ala1055Gly) c.*2041C>G (n.*2041C>G) c.1625C>G (p.Ala542Gly) c.2207C>G (p.Ala736Gly) c.3311C>G (p.Ala1104Gly) c.2987C>G (p.Ala996Gly) c.1880C>G (p.Ala627Gly) c.1874C>G (p.Ala625Gly) c.1733C>G (p.Ala578Gly) c.1727C>G (p.Ala576Gly) | |
19 | g.8584933G>T | CA403748130 | ADAMTS10 | c.3164C>A (p.Ala1055Asp) c.*2041C>A (n.*2041C>A) c.1625C>A (p.Ala542Asp) c.2207C>A (p.Ala736Asp) c.3311C>A (p.Ala1104Asp) c.2987C>A (p.Ala996Asp) c.1880C>A (p.Ala627Asp) c.1874C>A (p.Ala625Asp) c.1733C>A (p.Ala578Asp) c.1727C>A (p.Ala576Asp) | gnomAD v4 |
19 | g.8584934C>A | CA403748131 | ADAMTS10 | c.3163G>T (p.Ala1055Ser) c.*2040G>T (n.*2040G>T) c.1624G>T (p.Ala542Ser) c.2206G>T (p.Ala736Ser) c.3310G>T (p.Ala1104Ser) c.2986G>T (p.Ala996Ser) c.1879G>T (p.Ala627Ser) c.1873G>T (p.Ala625Ser) c.1732G>T (p.Ala578Ser) c.1726G>T (p.Ala576Ser) | gnomAD v4 |
19 | g.8584934C= | CA2321496536 | ADAMTS10 | c.3163G= (p.Ala1055=) c.*2040G= (n.*2040G=) c.1624G= (p.Ala542=) c.2206G= (p.Ala736=) c.3310G= (p.Ala1104=) c.2986G= (p.Ala996=) c.1879G= (p.Ala627=) c.1873G= (p.Ala625=) c.1732G= (p.Ala578=) c.1726G= (p.Ala576=) | |
19 | g.8584934C>G | CA403748132 | ADAMTS10 | c.3163G>C (p.Ala1055Pro) c.*2040G>C (n.*2040G>C) c.1624G>C (p.Ala542Pro) c.2206G>C (p.Ala736Pro) c.3310G>C (p.Ala1104Pro) c.2986G>C (p.Ala996Pro) c.1879G>C (p.Ala627Pro) c.1873G>C (p.Ala625Pro) c.1732G>C (p.Ala578Pro) c.1726G>C (p.Ala576Pro) | |
19 | g.8584934C>T | CA403748133 | ADAMTS10 | c.3163G>A (p.Ala1055Thr) c.*2040G>A (n.*2040G>A) c.1624G>A (p.Ala542Thr) c.2206G>A (p.Ala736Thr) c.3310G>A (p.Ala1104Thr) c.2986G>A (p.Ala996Thr) c.1879G>A (p.Ala627Thr) c.1873G>A (p.Ala625Thr) c.1732G>A (p.Ala578Thr) c.1726G>A (p.Ala576Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584935C>A | CA403748134 | ADAMTS10 | c.3162G>T (p.Glu1054Asp) c.*2039G>T (n.*2039G>T) c.1623G>T (p.Glu541Asp) c.2205G>T (p.Glu735Asp) c.3309G>T (p.Glu1103Asp) c.2985G>T (p.Glu995Asp) c.1878G>T (p.Glu626Asp) c.1872G>T (p.Glu624Asp) c.1731G>T (p.Glu577Asp) c.1725G>T (p.Glu575Asp) | gnomAD v4 |
19 | g.8584935C>G | CA403748135 | ADAMTS10 | c.3162G>C (p.Glu1054Asp) c.*2039G>C (n.*2039G>C) c.1623G>C (p.Glu541Asp) c.2205G>C (p.Glu735Asp) c.3309G>C (p.Glu1103Asp) c.2985G>C (p.Glu995Asp) c.1878G>C (p.Glu626Asp) c.1872G>C (p.Glu624Asp) c.1731G>C (p.Glu577Asp) c.1725G>C (p.Glu575Asp) | |
19 | g.8584935C>T | CA505266566 | ADAMTS10 | c.3162G>A (p.Glu1054=) c.*2039G>A (n.*2039G>A) c.1623G>A (p.Glu541=) c.2205G>A (p.Glu735=) c.3309G>A (p.Glu1103=) c.2985G>A (p.Glu995=) c.1878G>A (p.Glu626=) c.1872G>A (p.Glu624=) c.1731G>A (p.Glu577=) c.1725G>A (p.Glu575=) | gnomAD v4 |
19 | g.8584936T>A | CA403748138 | ADAMTS10 | c.3161A>T (p.Glu1054Val) c.*2038A>T (n.*2038A>T) c.1622A>T (p.Glu541Val) c.2204A>T (p.Glu735Val) c.3308A>T (p.Glu1103Val) c.2984A>T (p.Glu995Val) c.1877A>T (p.Glu626Val) c.1871A>T (p.Glu624Val) c.1730A>T (p.Glu577Val) c.1724A>T (p.Glu575Val) | gnomAD v4 |
19 | g.8584936T>C | CA403748137 | ADAMTS10 | c.3161A>G (p.Glu1054Gly) c.*2038A>G (n.*2038A>G) c.1622A>G (p.Glu541Gly) c.2204A>G (p.Glu735Gly) c.3308A>G (p.Glu1103Gly) c.2984A>G (p.Glu995Gly) c.1877A>G (p.Glu626Gly) c.1871A>G (p.Glu624Gly) c.1730A>G (p.Glu577Gly) c.1724A>G (p.Glu575Gly) | |
19 | g.8584936T>G | CA403748136 | ADAMTS10 | c.3161A>C (p.Glu1054Ala) c.*2038A>C (n.*2038A>C) c.1622A>C (p.Glu541Ala) c.2204A>C (p.Glu735Ala) c.3308A>C (p.Glu1103Ala) c.2984A>C (p.Glu995Ala) c.1877A>C (p.Glu626Ala) c.1871A>C (p.Glu624Ala) c.1730A>C (p.Glu577Ala) c.1724A>C (p.Glu575Ala) | |
19 | g.8584937C>A | CA403748139 | ADAMTS10 | c.3160G>T (p.Glu1054Ter) c.*2037G>T (n.*2037G>T) c.1621G>T (p.Glu541Ter) c.2203G>T (p.Glu735Ter) c.3307G>T (p.Glu1103Ter) c.2983G>T (p.Glu995Ter) c.1876G>T (p.Glu626Ter) c.1870G>T (p.Glu624Ter) c.1729G>T (p.Glu577Ter) c.1723G>T (p.Glu575Ter) | gnomAD v4 |
19 | g.8584937C>G | CA403748140 | ADAMTS10 | c.3160G>C (p.Glu1054Gln) c.*2037G>C (n.*2037G>C) c.1621G>C (p.Glu541Gln) c.2203G>C (p.Glu735Gln) c.3307G>C (p.Glu1103Gln) c.2983G>C (p.Glu995Gln) c.1876G>C (p.Glu626Gln) c.1870G>C (p.Glu624Gln) c.1729G>C (p.Glu577Gln) c.1723G>C (p.Glu575Gln) | ClinVar gnomAD v4 |
19 | g.8584937C>T | CA403748141 | ADAMTS10 | c.3160G>A (p.Glu1054Lys) c.*2037G>A (n.*2037G>A) c.1621G>A (p.Glu541Lys) c.2203G>A (p.Glu735Lys) c.3307G>A (p.Glu1103Lys) c.2983G>A (p.Glu995Lys) c.1876G>A (p.Glu626Lys) c.1870G>A (p.Glu624Lys) c.1729G>A (p.Glu577Lys) c.1723G>A (p.Glu575Lys) | gnomAD v4 |
19 | g.8584938A= | CA2321496537 | ADAMTS10 | c.3159T= (p.Cys1053=) c.*2036T= (n.*2036T=) c.1620T= (p.Cys540=) c.2202T= (p.Cys734=) c.3306T= (p.Cys1102=) c.2982T= (p.Cys994=) c.1875T= (p.Cys625=) c.1869T= (p.Cys623=) c.1728T= (p.Cys576=) c.1722T= (p.Cys574=) | |
19 | g.8584938A>C | CA403748142 | ADAMTS10 | c.3159T>G (p.Cys1053Trp) c.*2036T>G (n.*2036T>G) c.1620T>G (p.Cys540Trp) c.2202T>G (p.Cys734Trp) c.3306T>G (p.Cys1102Trp) c.2982T>G (p.Cys994Trp) c.1875T>G (p.Cys625Trp) c.1869T>G (p.Cys623Trp) c.1728T>G (p.Cys576Trp) c.1722T>G (p.Cys574Trp) | |
19 | g.8584938A>G | CA10649297 | ADAMTS10 | c.3159T>C (p.Cys1053=) c.*2036T>C (n.*2036T>C) c.1620T>C (p.Cys540=) c.2202T>C (p.Cys734=) c.3306T>C (p.Cys1102=) c.2982T>C (p.Cys994=) c.1875T>C (p.Cys625=) c.1869T>C (p.Cys623=) c.1728T>C (p.Cys576=) c.1722T>C (p.Cys574=) | ClinVar dbSNP |
19 | g.8584938A>T | CA403748143 | ADAMTS10 | c.3159T>A (p.Cys1053Ter) c.*2036T>A (n.*2036T>A) c.1620T>A (p.Cys540Ter) c.2202T>A (p.Cys734Ter) c.3306T>A (p.Cys1102Ter) c.2982T>A (p.Cys994Ter) c.1875T>A (p.Cys625Ter) c.1869T>A (p.Cys623Ter) c.1728T>A (p.Cys576Ter) c.1722T>A (p.Cys574Ter) | gnomAD v4 |
19 | g.8584939del | CA2588116835 | ADAMTS10 | c.3158del (p.Cys1053LeufsTer20) c.*2035del (n.*2035del) c.1619del (p.Cys540LeufsTer20) c.2201del (p.Cys734LeufsTer20) c.3305del (p.Cys1102LeufsTer20) c.2981del (p.Cys994LeufsTer20) c.1874del (p.Cys625LeufsTer20) c.1868del (p.Cys623LeufsTer20) c.1727del (p.Cys576LeufsTer20) c.1721del (p.Cys574LeufsTer20) | gnomAD v4 |
19 | g.8584939C>A | CA403748146 | ADAMTS10 | c.3158G>T (p.Cys1053Phe) c.*2035G>T (n.*2035G>T) c.1619G>T (p.Cys540Phe) c.2201G>T (p.Cys734Phe) c.3305G>T (p.Cys1102Phe) c.2981G>T (p.Cys994Phe) c.1874G>T (p.Cys625Phe) c.1868G>T (p.Cys623Phe) c.1727G>T (p.Cys576Phe) c.1721G>T (p.Cys574Phe) | COSMIC |
19 | g.8584939C= | CA2321496538 | ADAMTS10 | c.3158G= (p.Cys1053=) c.*2035G= (n.*2035G=) c.1619G= (p.Cys540=) c.2201G= (p.Cys734=) c.3305G= (p.Cys1102=) c.2981G= (p.Cys994=) c.1874G= (p.Cys625=) c.1868G= (p.Cys623=) c.1727G= (p.Cys576=) c.1721G= (p.Cys574=) | |
19 | g.8584939C>G | CA403748144 | ADAMTS10 | c.3158G>C (p.Cys1053Ser) c.*2035G>C (n.*2035G>C) c.1619G>C (p.Cys540Ser) c.2201G>C (p.Cys734Ser) c.3305G>C (p.Cys1102Ser) c.2981G>C (p.Cys994Ser) c.1874G>C (p.Cys625Ser) c.1868G>C (p.Cys623Ser) c.1727G>C (p.Cys576Ser) c.1721G>C (p.Cys574Ser) | |
19 | g.8584939C>T | CA403748145 | ADAMTS10 | c.3158G>A (p.Cys1053Tyr) c.*2035G>A (n.*2035G>A) c.1619G>A (p.Cys540Tyr) c.2201G>A (p.Cys734Tyr) c.3305G>A (p.Cys1102Tyr) c.2981G>A (p.Cys994Tyr) c.1874G>A (p.Cys625Tyr) c.1868G>A (p.Cys623Tyr) c.1727G>A (p.Cys576Tyr) c.1721G>A (p.Cys574Tyr) | dbSNP |
19 | g.8584940A>C | CA403748147 | ADAMTS10 | c.3157T>G (p.Cys1053Gly) c.*2034T>G (n.*2034T>G) c.1618T>G (p.Cys540Gly) c.2200T>G (p.Cys734Gly) c.3304T>G (p.Cys1102Gly) c.2980T>G (p.Cys994Gly) c.1873T>G (p.Cys625Gly) c.1867T>G (p.Cys623Gly) c.1726T>G (p.Cys576Gly) c.1720T>G (p.Cys574Gly) | |
19 | g.8584940A>G | CA403748148 | ADAMTS10 | c.3157T>C (p.Cys1053Arg) c.*2034T>C (n.*2034T>C) c.1618T>C (p.Cys540Arg) c.2200T>C (p.Cys734Arg) c.3304T>C (p.Cys1102Arg) c.2980T>C (p.Cys994Arg) c.1873T>C (p.Cys625Arg) c.1867T>C (p.Cys623Arg) c.1726T>C (p.Cys576Arg) c.1720T>C (p.Cys574Arg) | |
19 | g.8584940A>T | CA403748149 | ADAMTS10 | c.3157T>A (p.Cys1053Ser) c.*2034T>A (n.*2034T>A) c.1618T>A (p.Cys540Ser) c.2200T>A (p.Cys734Ser) c.3304T>A (p.Cys1102Ser) c.2980T>A (p.Cys994Ser) c.1873T>A (p.Cys625Ser) c.1867T>A (p.Cys623Ser) c.1726T>A (p.Cys576Ser) c.1720T>A (p.Cys574Ser) | |
19 | g.8584941C>A | CA403748150 | ADAMTS10 | c.3156G>T (p.Gln1052His) c.*2033G>T (n.*2033G>T) c.1617G>T (p.Gln539His) c.2199G>T (p.Gln733His) c.3303G>T (p.Gln1101His) c.2979G>T (p.Gln993His) c.1872G>T (p.Gln624His) c.1866G>T (p.Gln622His) c.1725G>T (p.Gln575His) c.1719G>T (p.Gln573His) | gnomAD v4 |
19 | g.8584941C= | CA2321496539 | ADAMTS10 | c.3156G= (p.Gln1052=) c.*2033G= (n.*2033G=) c.1617G= (p.Gln539=) c.2199G= (p.Gln733=) c.3303G= (p.Gln1101=) c.2979G= (p.Gln993=) c.1872G= (p.Gln624=) c.1866G= (p.Gln622=) c.1725G= (p.Gln575=) c.1719G= (p.Gln573=) | |
19 | g.8584941C>G | CA403748151 | ADAMTS10 | c.3156G>C (p.Gln1052His) c.*2033G>C (n.*2033G>C) c.1617G>C (p.Gln539His) c.2199G>C (p.Gln733His) c.3303G>C (p.Gln1101His) c.2979G>C (p.Gln993His) c.1872G>C (p.Gln624His) c.1866G>C (p.Gln622His) c.1725G>C (p.Gln575His) c.1719G>C (p.Gln573His) | |
19 | g.8584941C>T | CA505266577 | ADAMTS10 | c.3156G>A (p.Gln1052=) c.*2033G>A (n.*2033G>A) c.1617G>A (p.Gln539=) c.2199G>A (p.Gln733=) c.3303G>A (p.Gln1101=) c.2979G>A (p.Gln993=) c.1872G>A (p.Gln624=) c.1866G>A (p.Gln622=) c.1725G>A (p.Gln575=) c.1719G>A (p.Gln573=) | dbSNP gnomAD v4 |
19 | g.8584942T>A | CA403748152 | ADAMTS10 | c.3155A>T (p.Gln1052Leu) c.*2032A>T (n.*2032A>T) c.1616A>T (p.Gln539Leu) c.2198A>T (p.Gln733Leu) c.3302A>T (p.Gln1101Leu) c.2978A>T (p.Gln993Leu) c.1871A>T (p.Gln624Leu) c.1865A>T (p.Gln622Leu) c.1724A>T (p.Gln575Leu) c.1718A>T (p.Gln573Leu) | |
19 | g.8584942T>C | CA403748154 | ADAMTS10 | c.3155A>G (p.Gln1052Arg) c.*2032A>G (n.*2032A>G) c.1616A>G (p.Gln539Arg) c.2198A>G (p.Gln733Arg) c.3302A>G (p.Gln1101Arg) c.2978A>G (p.Gln993Arg) c.1871A>G (p.Gln624Arg) c.1865A>G (p.Gln622Arg) c.1724A>G (p.Gln575Arg) c.1718A>G (p.Gln573Arg) | dbSNP |
19 | g.8584942T>G | CA403748153 | ADAMTS10 | c.3155A>C (p.Gln1052Pro) c.*2032A>C (n.*2032A>C) c.1616A>C (p.Gln539Pro) c.2198A>C (p.Gln733Pro) c.3302A>C (p.Gln1101Pro) c.2978A>C (p.Gln993Pro) c.1871A>C (p.Gln624Pro) c.1865A>C (p.Gln622Pro) c.1724A>C (p.Gln575Pro) c.1718A>C (p.Gln573Pro) | |
19 | g.8584942T= | CA2321496540 | ADAMTS10 | c.3155A= (p.Gln1052=) c.*2032A= (n.*2032A=) c.1616A= (p.Gln539=) c.2198A= (p.Gln733=) c.3302A= (p.Gln1101=) c.2978A= (p.Gln993=) c.1871A= (p.Gln624=) c.1865A= (p.Gln622=) c.1724A= (p.Gln575=) c.1718A= (p.Gln573=) | |
19 | g.8584943G>A | CA403748155 | ADAMTS10 | c.3154C>T (p.Gln1052Ter) c.*2031C>T (n.*2031C>T) c.1615C>T (p.Gln539Ter) c.2197C>T (p.Gln733Ter) c.3301C>T (p.Gln1101Ter) c.2977C>T (p.Gln993Ter) c.1870C>T (p.Gln624Ter) c.1864C>T (p.Gln622Ter) c.1723C>T (p.Gln575Ter) c.1717C>T (p.Gln573Ter) | ClinVar gnomAD v4 |
19 | g.8584943G>C | CA403748156 | ADAMTS10 | c.3154C>G (p.Gln1052Glu) c.*2031C>G (n.*2031C>G) c.1615C>G (p.Gln539Glu) c.2197C>G (p.Gln733Glu) c.3301C>G (p.Gln1101Glu) c.2977C>G (p.Gln993Glu) c.1870C>G (p.Gln624Glu) c.1864C>G (p.Gln622Glu) c.1723C>G (p.Gln575Glu) c.1717C>G (p.Gln573Glu) | |
19 | g.8584943G>T | CA403748157 | ADAMTS10 | c.3154C>A (p.Gln1052Lys) c.*2031C>A (n.*2031C>A) c.1615C>A (p.Gln539Lys) c.2197C>A (p.Gln733Lys) c.3301C>A (p.Gln1101Lys) c.2977C>A (p.Gln993Lys) c.1870C>A (p.Gln624Lys) c.1864C>A (p.Gln622Lys) c.1723C>A (p.Gln575Lys) c.1717C>A (p.Gln573Lys) | gnomAD v4 |
19 | g.8584944C>A | CA403748158 | ADAMTS10 | c.3153G>T (p.Gln1051His) c.*2030G>T (n.*2030G>T) c.1614G>T (p.Gln538His) c.2196G>T (p.Gln732His) c.3300G>T (p.Gln1100His) c.2976G>T (p.Gln992His) c.1869G>T (p.Gln623His) c.1863G>T (p.Gln621His) c.1722G>T (p.Gln574His) c.1716G>T (p.Gln572His) | gnomAD v4 |
19 | g.8584944C= | CA2321496541 | ADAMTS10 | c.3153G= (p.Gln1051=) c.*2030G= (n.*2030G=) c.1614G= (p.Gln538=) c.2196G= (p.Gln732=) c.3300G= (p.Gln1100=) c.2976G= (p.Gln992=) c.1869G= (p.Gln623=) c.1863G= (p.Gln621=) c.1722G= (p.Gln574=) c.1716G= (p.Gln572=) | |
19 | g.8584944C>G | CA403748159 | ADAMTS10 | c.3153G>C (p.Gln1051His) c.*2030G>C (n.*2030G>C) c.1614G>C (p.Gln538His) c.2196G>C (p.Gln732His) c.3300G>C (p.Gln1100His) c.2976G>C (p.Gln992His) c.1869G>C (p.Gln623His) c.1863G>C (p.Gln621His) c.1722G>C (p.Gln574His) c.1716G>C (p.Gln572His) | |
19 | g.8584944C>T | CA505266584 | ADAMTS10 | c.3153G>A (p.Gln1051=) c.*2030G>A (n.*2030G>A) c.1614G>A (p.Gln538=) c.2196G>A (p.Gln732=) c.3300G>A (p.Gln1100=) c.2976G>A (p.Gln992=) c.1869G>A (p.Gln623=) c.1863G>A (p.Gln621=) c.1722G>A (p.Gln574=) c.1716G>A (p.Gln572=) | ClinVar dbSNP |
19 | g.8584945T>A | CA403748160 | ADAMTS10 | c.3152A>T (p.Gln1051Leu) c.*2029A>T (n.*2029A>T) c.1613A>T (p.Gln538Leu) c.2195A>T (p.Gln732Leu) c.3299A>T (p.Gln1100Leu) c.2975A>T (p.Gln992Leu) c.1868A>T (p.Gln623Leu) c.1862A>T (p.Gln621Leu) c.1721A>T (p.Gln574Leu) c.1715A>T (p.Gln572Leu) | |
19 | g.8584945T>C | CA403748161 | ADAMTS10 | c.3152A>G (p.Gln1051Arg) c.*2029A>G (n.*2029A>G) c.1613A>G (p.Gln538Arg) c.2195A>G (p.Gln732Arg) c.3299A>G (p.Gln1100Arg) c.2975A>G (p.Gln992Arg) c.1868A>G (p.Gln623Arg) c.1862A>G (p.Gln621Arg) c.1721A>G (p.Gln574Arg) c.1715A>G (p.Gln572Arg) | gnomAD v4 |
19 | g.8584945T>G | CA403748162 | ADAMTS10 | c.3152A>C (p.Gln1051Pro) c.*2029A>C (n.*2029A>C) c.1613A>C (p.Gln538Pro) c.2195A>C (p.Gln732Pro) c.3299A>C (p.Gln1100Pro) c.2975A>C (p.Gln992Pro) c.1868A>C (p.Gln623Pro) c.1862A>C (p.Gln621Pro) c.1721A>C (p.Gln574Pro) c.1715A>C (p.Gln572Pro) | |
19 | g.8584946G>A | CA403748163 | ADAMTS10 | c.3151C>T (p.Gln1051Ter) c.*2028C>T (n.*2028C>T) c.1612C>T (p.Gln538Ter) c.2194C>T (p.Gln732Ter) c.3298C>T (p.Gln1100Ter) c.2974C>T (p.Gln992Ter) c.1867C>T (p.Gln623Ter) c.1861C>T (p.Gln621Ter) c.1720C>T (p.Gln574Ter) c.1714C>T (p.Gln572Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584946G>C | CA403748164 | ADAMTS10 | c.3151C>G (p.Gln1051Glu) c.*2028C>G (n.*2028C>G) c.1612C>G (p.Gln538Glu) c.2194C>G (p.Gln732Glu) c.3298C>G (p.Gln1100Glu) c.2974C>G (p.Gln992Glu) c.1867C>G (p.Gln623Glu) c.1861C>G (p.Gln621Glu) c.1720C>G (p.Gln574Glu) c.1714C>G (p.Gln572Glu) | |
19 | g.8584946G= | CA2321496542 | ADAMTS10 | c.3151C= (p.Gln1051=) c.*2028C= (n.*2028C=) c.1612C= (p.Gln538=) c.2194C= (p.Gln732=) c.3298C= (p.Gln1100=) c.2974C= (p.Gln992=) c.1867C= (p.Gln623=) c.1861C= (p.Gln621=) c.1720C= (p.Gln574=) c.1714C= (p.Gln572=) | |
19 | g.8584946G>T | CA403748165 | ADAMTS10 | c.3151C>A (p.Gln1051Lys) c.*2028C>A (n.*2028C>A) c.1612C>A (p.Gln538Lys) c.2194C>A (p.Gln732Lys) c.3298C>A (p.Gln1100Lys) c.2974C>A (p.Gln992Lys) c.1867C>A (p.Gln623Lys) c.1861C>A (p.Gln621Lys) c.1720C>A (p.Gln574Lys) c.1714C>A (p.Gln572Lys) | gnomAD v4 |
19 | g.8584947C>A | CA505266587 | ADAMTS10 | c.3150G>T (p.Thr1050=) c.*2027G>T (n.*2027G>T) c.1611G>T (p.Thr537=) c.2193G>T (p.Thr731=) c.3297G>T (p.Thr1099=) c.2973G>T (p.Thr991=) c.1866G>T (p.Thr622=) c.1860G>T (p.Thr620=) c.1719G>T (p.Thr573=) c.1713G>T (p.Thr571=) | |
19 | g.8584947C= | CA2321496543 | ADAMTS10 | c.3150G= (p.Thr1050=) c.*2027G= (n.*2027G=) c.1611G= (p.Thr537=) c.2193G= (p.Thr731=) c.3297G= (p.Thr1099=) c.2973G= (p.Thr991=) c.1866G= (p.Thr622=) c.1860G= (p.Thr620=) c.1719G= (p.Thr573=) c.1713G= (p.Thr571=) | |
19 | g.8584947C>G | CA505266589 | ADAMTS10 | c.3150G>C (p.Thr1050=) c.*2027G>C (n.*2027G>C) c.1611G>C (p.Thr537=) c.2193G>C (p.Thr731=) c.3297G>C (p.Thr1099=) c.2973G>C (p.Thr991=) c.1866G>C (p.Thr622=) c.1860G>C (p.Thr620=) c.1719G>C (p.Thr573=) c.1713G>C (p.Thr571=) | |
19 | g.8584947C>T | CA505266591 | ADAMTS10 | c.3150G>A (p.Thr1050=) c.*2027G>A (n.*2027G>A) c.1611G>A (p.Thr537=) c.2193G>A (p.Thr731=) c.3297G>A (p.Thr1099=) c.2973G>A (p.Thr991=) c.1866G>A (p.Thr622=) c.1860G>A (p.Thr620=) c.1719G>A (p.Thr573=) c.1713G>A (p.Thr571=) | ClinVar dbSNP gnomAD v4 |
19 | g.8584948G>A | CA304997182 | ADAMTS10 | c.3149C>T (p.Thr1050Met) c.*2026C>T (n.*2026C>T) c.1610C>T (p.Thr537Met) c.2192C>T (p.Thr731Met) c.3296C>T (p.Thr1099Met) c.2972C>T (p.Thr991Met) c.1865C>T (p.Thr622Met) c.1859C>T (p.Thr620Met) c.1718C>T (p.Thr573Met) c.1712C>T (p.Thr571Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584948G>C | CA403748166 | ADAMTS10 | c.3149C>G (p.Thr1050Arg) c.*2026C>G (n.*2026C>G) c.1610C>G (p.Thr537Arg) c.2192C>G (p.Thr731Arg) c.3296C>G (p.Thr1099Arg) c.2972C>G (p.Thr991Arg) c.1865C>G (p.Thr622Arg) c.1859C>G (p.Thr620Arg) c.1718C>G (p.Thr573Arg) c.1712C>G (p.Thr571Arg) | ClinVar dbSNP |
19 | g.8584948G= | CA2321496544 | ADAMTS10 | c.3149C= (p.Thr1050=) c.*2026C= (n.*2026C=) c.1610C= (p.Thr537=) c.2192C= (p.Thr731=) c.3296C= (p.Thr1099=) c.2972C= (p.Thr991=) c.1865C= (p.Thr622=) c.1859C= (p.Thr620=) c.1718C= (p.Thr573=) c.1712C= (p.Thr571=) | |
19 | g.8584948G>T | CA403748167 | ADAMTS10 | c.3149C>A (p.Thr1050Lys) c.*2026C>A (n.*2026C>A) c.1610C>A (p.Thr537Lys) c.2192C>A (p.Thr731Lys) c.3296C>A (p.Thr1099Lys) c.2972C>A (p.Thr991Lys) c.1865C>A (p.Thr622Lys) c.1859C>A (p.Thr620Lys) c.1718C>A (p.Thr573Lys) c.1712C>A (p.Thr571Lys) | |
19 | g.8584949T>A | CA403748168 | ADAMTS10 | c.3148A>T (p.Thr1050Ser) c.*2025A>T (n.*2025A>T) c.1609A>T (p.Thr537Ser) c.2191A>T (p.Thr731Ser) c.3295A>T (p.Thr1099Ser) c.2971A>T (p.Thr991Ser) c.1864A>T (p.Thr622Ser) c.1858A>T (p.Thr620Ser) c.1717A>T (p.Thr573Ser) c.1711A>T (p.Thr571Ser) | |
19 | g.8584949T>C | CA403748169 | ADAMTS10 | c.3148A>G (p.Thr1050Ala) c.*2025A>G (n.*2025A>G) c.1609A>G (p.Thr537Ala) c.2191A>G (p.Thr731Ala) c.3295A>G (p.Thr1099Ala) c.2971A>G (p.Thr991Ala) c.1864A>G (p.Thr622Ala) c.1858A>G (p.Thr620Ala) c.1717A>G (p.Thr573Ala) c.1711A>G (p.Thr571Ala) | |
19 | g.8584949T>G | CA403748170 | ADAMTS10 | c.3148A>C (p.Thr1050Pro) c.*2025A>C (n.*2025A>C) c.1609A>C (p.Thr537Pro) c.2191A>C (p.Thr731Pro) c.3295A>C (p.Thr1099Pro) c.2971A>C (p.Thr991Pro) c.1864A>C (p.Thr622Pro) c.1858A>C (p.Thr620Pro) c.1717A>C (p.Thr573Pro) c.1711A>C (p.Thr571Pro) | |
19 | g.8584950G>A | CA505266596 | ADAMTS10 | c.3147C>T (p.Thr1049=) c.*2024C>T (n.*2024C>T) c.1608C>T (p.Thr536=) c.2190C>T (p.Thr730=) c.3294C>T (p.Thr1098=) c.2970C>T (p.Thr990=) c.1863C>T (p.Thr621=) c.1857C>T (p.Thr619=) c.1716C>T (p.Thr572=) c.1710C>T (p.Thr570=) | |
19 | g.8584950G>C | CA505266597 | ADAMTS10 | c.3147C>G (p.Thr1049=) c.*2024C>G (n.*2024C>G) c.1608C>G (p.Thr536=) c.2190C>G (p.Thr730=) c.3294C>G (p.Thr1098=) c.2970C>G (p.Thr990=) c.1863C>G (p.Thr621=) c.1857C>G (p.Thr619=) c.1716C>G (p.Thr572=) c.1710C>G (p.Thr570=) | |
19 | g.8584950G>T | CA505266598 | ADAMTS10 | c.3147C>A (p.Thr1049=) c.*2024C>A (n.*2024C>A) c.1608C>A (p.Thr536=) c.2190C>A (p.Thr730=) c.3294C>A (p.Thr1098=) c.2970C>A (p.Thr990=) c.1863C>A (p.Thr621=) c.1857C>A (p.Thr619=) c.1716C>A (p.Thr572=) c.1710C>A (p.Thr570=) | gnomAD v4 |
19 | g.8584951G>A | CA403748171 | ADAMTS10 | c.3146C>T (p.Thr1049Ile) c.*2023C>T (n.*2023C>T) c.1607C>T (p.Thr536Ile) c.2189C>T (p.Thr730Ile) c.3293C>T (p.Thr1098Ile) c.2969C>T (p.Thr990Ile) c.1862C>T (p.Thr621Ile) c.1856C>T (p.Thr619Ile) c.1715C>T (p.Thr572Ile) c.1709C>T (p.Thr570Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584951G>C | CA403748172 | ADAMTS10 | c.3146C>G (p.Thr1049Ser) c.*2023C>G (n.*2023C>G) c.1607C>G (p.Thr536Ser) c.2189C>G (p.Thr730Ser) c.3293C>G (p.Thr1098Ser) c.2969C>G (p.Thr990Ser) c.1862C>G (p.Thr621Ser) c.1856C>G (p.Thr619Ser) c.1715C>G (p.Thr572Ser) c.1709C>G (p.Thr570Ser) | |
19 | g.8584951G= | CA2321496545 | ADAMTS10 | c.3146C= (p.Thr1049=) c.*2023C= (n.*2023C=) c.1607C= (p.Thr536=) c.2189C= (p.Thr730=) c.3293C= (p.Thr1098=) c.2969C= (p.Thr990=) c.1862C= (p.Thr621=) c.1856C= (p.Thr619=) c.1715C= (p.Thr572=) c.1709C= (p.Thr570=) | |
19 | g.8584951G>T | CA403748173 | ADAMTS10 | c.3146C>A (p.Thr1049Asn) c.*2023C>A (n.*2023C>A) c.1607C>A (p.Thr536Asn) c.2189C>A (p.Thr730Asn) c.3293C>A (p.Thr1098Asn) c.2969C>A (p.Thr990Asn) c.1862C>A (p.Thr621Asn) c.1856C>A (p.Thr619Asn) c.1715C>A (p.Thr572Asn) c.1709C>A (p.Thr570Asn) | gnomAD v4 |
19 | g.8584952T>A | CA9159971 | ADAMTS10 | c.3145A>T (p.Thr1049Ser) c.*2022A>T (n.*2022A>T) c.1606A>T (p.Thr536Ser) c.2188A>T (p.Thr730Ser) c.3292A>T (p.Thr1098Ser) c.2968A>T (p.Thr990Ser) c.1861A>T (p.Thr621Ser) c.1855A>T (p.Thr619Ser) c.1714A>T (p.Thr572Ser) c.1708A>T (p.Thr570Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8584952T>C | CA403748175 | ADAMTS10 | c.3145A>G (p.Thr1049Ala) c.*2022A>G (n.*2022A>G) c.1606A>G (p.Thr536Ala) c.2188A>G (p.Thr730Ala) c.3292A>G (p.Thr1098Ala) c.2968A>G (p.Thr990Ala) c.1861A>G (p.Thr621Ala) c.1855A>G (p.Thr619Ala) c.1714A>G (p.Thr572Ala) c.1708A>G (p.Thr570Ala) | dbSNP |
19 | g.8584952T>G | CA403748174 | ADAMTS10 | c.3145A>C (p.Thr1049Pro) c.*2022A>C (n.*2022A>C) c.1606A>C (p.Thr536Pro) c.2188A>C (p.Thr730Pro) c.3292A>C (p.Thr1098Pro) c.2968A>C (p.Thr990Pro) c.1861A>C (p.Thr621Pro) c.1855A>C (p.Thr619Pro) c.1714A>C (p.Thr572Pro) c.1708A>C (p.Thr570Pro) | |
19 | g.8584952T= | CA2321496546 | ADAMTS10 | c.3145A= (p.Thr1049=) c.*2022A= (n.*2022A=) c.1606A= (p.Thr536=) c.2188A= (p.Thr730=) c.3292A= (p.Thr1098=) c.2968A= (p.Thr990=) c.1861A= (p.Thr621=) c.1855A= (p.Thr619=) c.1714A= (p.Thr572=) c.1708A= (p.Thr570=) | |
19 | g.8584953G>A | CA505266607 | ADAMTS10 | c.3144C>T (p.Pro1048=) c.*2021C>T (n.*2021C>T) c.1605C>T (p.Pro535=) c.2187C>T (p.Pro729=) c.3291C>T (p.Pro1097=) c.2967C>T (p.Pro989=) c.1860C>T (p.Pro620=) c.1854C>T (p.Pro618=) c.1713C>T (p.Pro571=) c.1707C>T (p.Pro569=) | dbSNP gnomAD v4 |
19 | g.8584953G>C | CA505266601 | ADAMTS10 | c.3144C>G (p.Pro1048=) c.*2021C>G (n.*2021C>G) c.1605C>G (p.Pro535=) c.2187C>G (p.Pro729=) c.3291C>G (p.Pro1097=) c.2967C>G (p.Pro989=) c.1860C>G (p.Pro620=) c.1854C>G (p.Pro618=) c.1713C>G (p.Pro571=) c.1707C>G (p.Pro569=) | |
19 | g.8584953G= | CA2321496547 | ADAMTS10 | c.3144C= (p.Pro1048=) c.*2021C= (n.*2021C=) c.1605C= (p.Pro535=) c.2187C= (p.Pro729=) c.3291C= (p.Pro1097=) c.2967C= (p.Pro989=) c.1860C= (p.Pro620=) c.1854C= (p.Pro618=) c.1713C= (p.Pro571=) c.1707C= (p.Pro569=) | |
19 | g.8584953G>T | CA505266603 | ADAMTS10 | c.3144C>A (p.Pro1048=) c.*2021C>A (n.*2021C>A) c.1605C>A (p.Pro535=) c.2187C>A (p.Pro729=) c.3291C>A (p.Pro1097=) c.2967C>A (p.Pro989=) c.1860C>A (p.Pro620=) c.1854C>A (p.Pro618=) c.1713C>A (p.Pro571=) c.1707C>A (p.Pro569=) | gnomAD v4 |
19 | g.8584955del | CA2735604168 | ADAMTS10 | c.3144del (p.Thr1049ProfsTer24) c.*2021del (n.*2021del) c.1605del (p.Thr536ProfsTer24) c.2187del (p.Thr730ProfsTer24) c.3291del (p.Thr1098ProfsTer24) c.2967del (p.Thr990ProfsTer24) c.1860del (p.Thr621ProfsTer24) c.1854del (p.Thr619ProfsTer24) c.1713del (p.Thr572ProfsTer24) c.1707del (p.Thr570ProfsTer24) | dbSNP |
19 | g.8584954G>A | CA403748176 | ADAMTS10 | c.3143C>T (p.Pro1048Leu) c.*2020C>T (n.*2020C>T) c.1604C>T (p.Pro535Leu) c.2186C>T (p.Pro729Leu) c.3290C>T (p.Pro1097Leu) c.2966C>T (p.Pro989Leu) c.1859C>T (p.Pro620Leu) c.1853C>T (p.Pro618Leu) c.1712C>T (p.Pro571Leu) c.1706C>T (p.Pro569Leu) | gnomAD v4 |
19 | g.8584954G>C | CA403748177 | ADAMTS10 | c.3143C>G (p.Pro1048Arg) c.*2020C>G (n.*2020C>G) c.1604C>G (p.Pro535Arg) c.2186C>G (p.Pro729Arg) c.3290C>G (p.Pro1097Arg) c.2966C>G (p.Pro989Arg) c.1859C>G (p.Pro620Arg) c.1853C>G (p.Pro618Arg) c.1712C>G (p.Pro571Arg) c.1706C>G (p.Pro569Arg) | |
19 | g.8584954G>T | CA403748178 | ADAMTS10 | c.3143C>A (p.Pro1048His) c.*2020C>A (n.*2020C>A) c.1604C>A (p.Pro535His) c.2186C>A (p.Pro729His) c.3290C>A (p.Pro1097His) c.2966C>A (p.Pro989His) c.1859C>A (p.Pro620His) c.1853C>A (p.Pro618His) c.1712C>A (p.Pro571His) c.1706C>A (p.Pro569His) | gnomAD v4 |
19 | g.8584955G>A | CA403748179 | ADAMTS10 | c.3142C>T (p.Pro1048Ser) c.*2019C>T (n.*2019C>T) c.1603C>T (p.Pro535Ser) c.2185C>T (p.Pro729Ser) c.3289C>T (p.Pro1097Ser) c.2965C>T (p.Pro989Ser) c.1858C>T (p.Pro620Ser) c.1852C>T (p.Pro618Ser) c.1711C>T (p.Pro571Ser) c.1705C>T (p.Pro569Ser) | gnomAD v4 |
19 | g.8584955G>C | CA403748180 | ADAMTS10 | c.3142C>G (p.Pro1048Ala) c.*2019C>G (n.*2019C>G) c.1603C>G (p.Pro535Ala) c.2185C>G (p.Pro729Ala) c.3289C>G (p.Pro1097Ala) c.2965C>G (p.Pro989Ala) c.1858C>G (p.Pro620Ala) c.1852C>G (p.Pro618Ala) c.1711C>G (p.Pro571Ala) c.1705C>G (p.Pro569Ala) | |
19 | g.8584955G>T | CA403748181 | ADAMTS10 | c.3142C>A (p.Pro1048Thr) c.*2019C>A (n.*2019C>A) c.1603C>A (p.Pro535Thr) c.2185C>A (p.Pro729Thr) c.3289C>A (p.Pro1097Thr) c.2965C>A (p.Pro989Thr) c.1858C>A (p.Pro620Thr) c.1852C>A (p.Pro618Thr) c.1711C>A (p.Pro571Thr) c.1705C>A (p.Pro569Thr) | |
19 | g.8584956C>A | CA505266611 | ADAMTS10 | c.3141G>T (p.Pro1047=) c.*2018G>T (n.*2018G>T) c.1602G>T (p.Pro534=) c.2184G>T (p.Pro728=) c.3288G>T (p.Pro1096=) c.2964G>T (p.Pro988=) c.1857G>T (p.Pro619=) c.1851G>T (p.Pro617=) c.1710G>T (p.Pro570=) c.1704G>T (p.Pro568=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584956C= | CA2321496548 | ADAMTS10 | c.3141G= (p.Pro1047=) c.*2018G= (n.*2018G=) c.1602G= (p.Pro534=) c.2184G= (p.Pro728=) c.3288G= (p.Pro1096=) c.2964G= (p.Pro988=) c.1857G= (p.Pro619=) c.1851G= (p.Pro617=) c.1710G= (p.Pro570=) c.1704G= (p.Pro568=) | |
19 | g.8584956C>G | CA505266613 | ADAMTS10 | c.3141G>C (p.Pro1047=) c.*2018G>C (n.*2018G>C) c.1602G>C (p.Pro534=) c.2184G>C (p.Pro728=) c.3288G>C (p.Pro1096=) c.2964G>C (p.Pro988=) c.1857G>C (p.Pro619=) c.1851G>C (p.Pro617=) c.1710G>C (p.Pro570=) c.1704G>C (p.Pro568=) | |
19 | g.8584956C>T | CA505266615 | ADAMTS10 | c.3141G>A (p.Pro1047=) c.*2018G>A (n.*2018G>A) c.1602G>A (p.Pro534=) c.2184G>A (p.Pro728=) c.3288G>A (p.Pro1096=) c.2964G>A (p.Pro988=) c.1857G>A (p.Pro619=) c.1851G>A (p.Pro617=) c.1710G>A (p.Pro570=) c.1704G>A (p.Pro568=) | dbSNP gnomAD v4 |
19 | g.8584957G>A | CA403748184 | ADAMTS10 | c.3140C>T (p.Pro1047Leu) c.*2017C>T (n.*2017C>T) c.1601C>T (p.Pro534Leu) c.2183C>T (p.Pro728Leu) c.3287C>T (p.Pro1096Leu) c.2963C>T (p.Pro988Leu) c.1856C>T (p.Pro619Leu) c.1850C>T (p.Pro617Leu) c.1709C>T (p.Pro570Leu) c.1703C>T (p.Pro568Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584957G>C | CA403748182 | ADAMTS10 | c.3140C>G (p.Pro1047Arg) c.*2017C>G (n.*2017C>G) c.1601C>G (p.Pro534Arg) c.2183C>G (p.Pro728Arg) c.3287C>G (p.Pro1096Arg) c.2963C>G (p.Pro988Arg) c.1856C>G (p.Pro619Arg) c.1850C>G (p.Pro617Arg) c.1709C>G (p.Pro570Arg) c.1703C>G (p.Pro568Arg) | |
19 | g.8584957G= | CA2321496549 | ADAMTS10 | c.3140C= (p.Pro1047=) c.*2017C= (n.*2017C=) c.1601C= (p.Pro534=) c.2183C= (p.Pro728=) c.3287C= (p.Pro1096=) c.2963C= (p.Pro988=) c.1856C= (p.Pro619=) c.1850C= (p.Pro617=) c.1709C= (p.Pro570=) c.1703C= (p.Pro568=) | |
19 | g.8584957G>T | CA403748183 | ADAMTS10 | c.3140C>A (p.Pro1047Gln) c.*2017C>A (n.*2017C>A) c.1601C>A (p.Pro534Gln) c.2183C>A (p.Pro728Gln) c.3287C>A (p.Pro1096Gln) c.2963C>A (p.Pro988Gln) c.1856C>A (p.Pro619Gln) c.1850C>A (p.Pro617Gln) c.1709C>A (p.Pro570Gln) c.1703C>A (p.Pro568Gln) | |
19 | g.8584958G>A | CA403748185 | ADAMTS10 | c.3139C>T (p.Pro1047Ser) c.*2016C>T (n.*2016C>T) c.1600C>T (p.Pro534Ser) c.2182C>T (p.Pro728Ser) c.3286C>T (p.Pro1096Ser) c.2962C>T (p.Pro988Ser) c.1855C>T (p.Pro619Ser) c.1849C>T (p.Pro617Ser) c.1708C>T (p.Pro570Ser) c.1702C>T (p.Pro568Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584958G>C | CA403748186 | ADAMTS10 | c.3139C>G (p.Pro1047Ala) c.*2016C>G (n.*2016C>G) c.1600C>G (p.Pro534Ala) c.2182C>G (p.Pro728Ala) c.3286C>G (p.Pro1096Ala) c.2962C>G (p.Pro988Ala) c.1855C>G (p.Pro619Ala) c.1849C>G (p.Pro617Ala) c.1708C>G (p.Pro570Ala) c.1702C>G (p.Pro568Ala) | |
19 | g.8584958G= | CA2321496550 | ADAMTS10 | c.3139C= (p.Pro1047=) c.*2016C= (n.*2016C=) c.1600C= (p.Pro534=) c.2182C= (p.Pro728=) c.3286C= (p.Pro1096=) c.2962C= (p.Pro988=) c.1855C= (p.Pro619=) c.1849C= (p.Pro617=) c.1708C= (p.Pro570=) c.1702C= (p.Pro568=) | |
19 | g.8584958G>T | CA403748187 | ADAMTS10 | c.3139C>A (p.Pro1047Thr) c.*2016C>A (n.*2016C>A) c.1600C>A (p.Pro534Thr) c.2182C>A (p.Pro728Thr) c.3286C>A (p.Pro1096Thr) c.2962C>A (p.Pro988Thr) c.1855C>A (p.Pro619Thr) c.1849C>A (p.Pro617Thr) c.1708C>A (p.Pro570Thr) c.1702C>A (p.Pro568Thr) | gnomAD v4 |
19 | g.8584959C>A | CA505266618 | ADAMTS10 | c.3138G>T (p.Arg1046=) c.*2015G>T (n.*2015G>T) c.1599G>T (p.Arg533=) c.2181G>T (p.Arg727=) c.3285G>T (p.Arg1095=) c.2961G>T (p.Arg987=) c.1854G>T (p.Arg618=) c.1848G>T (p.Arg616=) c.1707G>T (p.Arg569=) c.1701G>T (p.Arg567=) | |
19 | g.8584959C= | CA2321496551 | ADAMTS10 | c.3138G= (p.Arg1046=) c.*2015G= (n.*2015G=) c.1599G= (p.Arg533=) c.2181G= (p.Arg727=) c.3285G= (p.Arg1095=) c.2961G= (p.Arg987=) c.1854G= (p.Arg618=) c.1848G= (p.Arg616=) c.1707G= (p.Arg569=) c.1701G= (p.Arg567=) | |
19 | g.8584959C>G | CA505266619 | ADAMTS10 | c.3138G>C (p.Arg1046=) c.*2015G>C (n.*2015G>C) c.1599G>C (p.Arg533=) c.2181G>C (p.Arg727=) c.3285G>C (p.Arg1095=) c.2961G>C (p.Arg987=) c.1854G>C (p.Arg618=) c.1848G>C (p.Arg616=) c.1707G>C (p.Arg569=) c.1701G>C (p.Arg567=) | |
19 | g.8584959C>T | CA304997183 | ADAMTS10 | c.3138G>A (p.Arg1046=) c.*2015G>A (n.*2015G>A) c.1599G>A (p.Arg533=) c.2181G>A (p.Arg727=) c.3285G>A (p.Arg1095=) c.2961G>A (p.Arg987=) c.1854G>A (p.Arg618=) c.1848G>A (p.Arg616=) c.1707G>A (p.Arg569=) c.1701G>A (p.Arg567=) | ClinVar dbSNP gnomAD v4 |
19 | g.8584960del | CA2588116836 | ADAMTS10 | c.3138del (p.Pro1047ArgfsTer26) c.*2015del (n.*2015del) c.1599del (p.Pro534ArgfsTer26) c.2181del (p.Pro728ArgfsTer26) c.3285del (p.Pro1096ArgfsTer26) c.2961del (p.Pro988ArgfsTer26) c.1854del (p.Pro619ArgfsTer26) c.1848del (p.Pro617ArgfsTer26) c.1707del (p.Pro570ArgfsTer26) c.1701del (p.Pro568ArgfsTer26) | gnomAD v4 |
19 | g.8584960C>A | CA403748188 | ADAMTS10 | c.3137G>T (p.Arg1046Leu) c.*2014G>T (n.*2014G>T) c.1598G>T (p.Arg533Leu) c.2180G>T (p.Arg727Leu) c.3284G>T (p.Arg1095Leu) c.2960G>T (p.Arg987Leu) c.1853G>T (p.Arg618Leu) c.1847G>T (p.Arg616Leu) c.1706G>T (p.Arg569Leu) c.1700G>T (p.Arg567Leu) | |
19 | g.8584960C>G | CA403748189 | ADAMTS10 | c.3137G>C (p.Arg1046Pro) c.*2014G>C (n.*2014G>C) c.1598G>C (p.Arg533Pro) c.2180G>C (p.Arg727Pro) c.3284G>C (p.Arg1095Pro) c.2960G>C (p.Arg987Pro) c.1853G>C (p.Arg618Pro) c.1847G>C (p.Arg616Pro) c.1706G>C (p.Arg569Pro) c.1700G>C (p.Arg567Pro) | |
19 | g.8584960C>T | CA403748190 | ADAMTS10 | c.3137G>A (p.Arg1046Gln) c.*2014G>A (n.*2014G>A) c.1598G>A (p.Arg533Gln) c.2180G>A (p.Arg727Gln) c.3284G>A (p.Arg1095Gln) c.2960G>A (p.Arg987Gln) c.1853G>A (p.Arg618Gln) c.1847G>A (p.Arg616Gln) c.1706G>A (p.Arg569Gln) c.1700G>A (p.Arg567Gln) | dbSNP gnomAD v4 |
19 | g.8584961G>A | CA403748191 | ADAMTS10 | c.3136C>T (p.Arg1046Trp) c.*2013C>T (n.*2013C>T) c.1597C>T (p.Arg533Trp) c.2179C>T (p.Arg727Trp) c.3283C>T (p.Arg1095Trp) c.2959C>T (p.Arg987Trp) c.1852C>T (p.Arg618Trp) c.1846C>T (p.Arg616Trp) c.1705C>T (p.Arg569Trp) c.1699C>T (p.Arg567Trp) | gnomAD v4 COSMIC |
19 | g.8584961G>C | CA403748192 | ADAMTS10 | c.3136C>G (p.Arg1046Gly) c.*2013C>G (n.*2013C>G) c.1597C>G (p.Arg533Gly) c.2179C>G (p.Arg727Gly) c.3283C>G (p.Arg1095Gly) c.2959C>G (p.Arg987Gly) c.1852C>G (p.Arg618Gly) c.1846C>G (p.Arg616Gly) c.1705C>G (p.Arg569Gly) c.1699C>G (p.Arg567Gly) | |
19 | g.8584961G>T | CA505266624 | ADAMTS10 | c.3136C>A (p.Arg1046=) c.*2013C>A (n.*2013C>A) c.1597C>A (p.Arg533=) c.2179C>A (p.Arg727=) c.3283C>A (p.Arg1095=) c.2959C>A (p.Arg987=) c.1852C>A (p.Arg618=) c.1846C>A (p.Arg616=) c.1705C>A (p.Arg569=) c.1699C>A (p.Arg567=) | gnomAD v4 |
19 | g.8584962C>A | CA505266625 | ADAMTS10 | c.3135G>T (p.Leu1045=) c.*2012G>T (n.*2012G>T) c.1596G>T (p.Leu532=) c.2178G>T (p.Leu726=) c.3282G>T (p.Leu1094=) c.2958G>T (p.Leu986=) c.1851G>T (p.Leu617=) c.1845G>T (p.Leu615=) c.1704G>T (p.Leu568=) c.1698G>T (p.Leu566=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8584962C= | CA2321496552 | ADAMTS10 | c.3135G= (p.Leu1045=) c.*2012G= (n.*2012G=) c.1596G= (p.Leu532=) c.2178G= (p.Leu726=) c.3282G= (p.Leu1094=) c.2958G= (p.Leu986=) c.1851G= (p.Leu617=) c.1845G= (p.Leu615=) c.1704G= (p.Leu568=) c.1698G= (p.Leu566=) | |
19 | g.8584962C>G | CA505266626 | ADAMTS10 | c.3135G>C (p.Leu1045=) c.*2012G>C (n.*2012G>C) c.1596G>C (p.Leu532=) c.2178G>C (p.Leu726=) c.3282G>C (p.Leu1094=) c.2958G>C (p.Leu986=) c.1851G>C (p.Leu617=) c.1845G>C (p.Leu615=) c.1704G>C (p.Leu568=) c.1698G>C (p.Leu566=) | |
19 | g.8584962C>T | CA505266627 | ADAMTS10 | c.3135G>A (p.Leu1045=) c.*2012G>A (n.*2012G>A) c.1596G>A (p.Leu532=) c.2178G>A (p.Leu726=) c.3282G>A (p.Leu1094=) c.2958G>A (p.Leu986=) c.1851G>A (p.Leu617=) c.1845G>A (p.Leu615=) c.1704G>A (p.Leu568=) c.1698G>A (p.Leu566=) | |
19 | g.8584963A>C | CA403748193 | ADAMTS10 | c.3134T>G (p.Leu1045Arg) c.*2011T>G (n.*2011T>G) c.1595T>G (p.Leu532Arg) c.*2416T>G (n.*2416T>G) c.2177T>G (p.Leu726Arg) c.3281T>G (p.Leu1094Arg) c.2957T>G (p.Leu986Arg) c.1850T>G (p.Leu617Arg) c.1844T>G (p.Leu615Arg) c.1703T>G (p.Leu568Arg) c.1697T>G (p.Leu566Arg) | |
19 | g.8584963A>G | CA403748194 | ADAMTS10 | c.3134T>C (p.Leu1045Pro) c.*2011T>C (n.*2011T>C) c.1595T>C (p.Leu532Pro) c.*2416T>C (n.*2416T>C) c.2177T>C (p.Leu726Pro) c.3281T>C (p.Leu1094Pro) c.2957T>C (p.Leu986Pro) c.1850T>C (p.Leu617Pro) c.1844T>C (p.Leu615Pro) c.1703T>C (p.Leu568Pro) c.1697T>C (p.Leu566Pro) | gnomAD v4 |
19 | g.8584963A>T | CA403748195 | ADAMTS10 | c.3134T>A (p.Leu1045Gln) c.*2011T>A (n.*2011T>A) c.1595T>A (p.Leu532Gln) c.*2416T>A (n.*2416T>A) c.2177T>A (p.Leu726Gln) c.3281T>A (p.Leu1094Gln) c.2957T>A (p.Leu986Gln) c.1850T>A (p.Leu617Gln) c.1844T>A (p.Leu615Gln) c.1703T>A (p.Leu568Gln) c.1697T>A (p.Leu566Gln) | |
19 | g.8584964G>A | CA505266632 | ADAMTS10 | c.3133C>T (p.Leu1045=) c.*2010C>T (n.*2010C>T) c.1594C>T (p.Leu532=) c.*2415C>T (n.*2415C>T) c.2176C>T (p.Leu726=) c.3280C>T (p.Leu1094=) c.2956C>T (p.Leu986=) c.1849C>T (p.Leu617=) c.1843C>T (p.Leu615=) c.1702C>T (p.Leu568=) c.1696C>T (p.Leu566=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584964G>C | CA403748196 | ADAMTS10 | c.3133C>G (p.Leu1045Val) c.*2010C>G (n.*2010C>G) c.1594C>G (p.Leu532Val) c.*2415C>G (n.*2415C>G) c.2176C>G (p.Leu726Val) c.3280C>G (p.Leu1094Val) c.2956C>G (p.Leu986Val) c.1849C>G (p.Leu617Val) c.1843C>G (p.Leu615Val) c.1702C>G (p.Leu568Val) c.1696C>G (p.Leu566Val) | |
19 | g.8584964G= | CA2321496553 | ADAMTS10 | c.3133C= (p.Leu1045=) c.*2010C= (n.*2010C=) c.1594C= (p.Leu532=) c.*2415C= (n.*2415C=) c.2176C= (p.Leu726=) c.3280C= (p.Leu1094=) c.2956C= (p.Leu986=) c.1849C= (p.Leu617=) c.1843C= (p.Leu615=) c.1702C= (p.Leu568=) c.1696C= (p.Leu566=) | |
19 | g.8584964G>T | CA403748197 | ADAMTS10 | c.3133C>A (p.Leu1045Met) c.*2010C>A (n.*2010C>A) c.1594C>A (p.Leu532Met) c.*2415C>A (n.*2415C>A) c.2176C>A (p.Leu726Met) c.3280C>A (p.Leu1094Met) c.2956C>A (p.Leu986Met) c.1849C>A (p.Leu617Met) c.1843C>A (p.Leu615Met) c.1702C>A (p.Leu568Met) c.1696C>A (p.Leu566Met) | gnomAD v4 |
19 | g.8584965G>A | CA505266633 | ADAMTS10 | c.3132C>T (p.Ala1044=) c.*2009C>T (n.*2009C>T) c.1593C>T (p.Ala531=) c.*2414C>T (n.*2414C>T) c.2175C>T (p.Ala725=) c.3279C>T (p.Ala1093=) c.2955C>T (p.Ala985=) c.1848C>T (p.Ala616=) c.1842C>T (p.Ala614=) c.1701C>T (p.Ala567=) c.1695C>T (p.Ala565=) | |
19 | g.8584965G>C | CA505266634 | ADAMTS10 | c.3132C>G (p.Ala1044=) c.*2009C>G (n.*2009C>G) c.1593C>G (p.Ala531=) c.*2414C>G (n.*2414C>G) c.2175C>G (p.Ala725=) c.3279C>G (p.Ala1093=) c.2955C>G (p.Ala985=) c.1848C>G (p.Ala616=) c.1842C>G (p.Ala614=) c.1701C>G (p.Ala567=) c.1695C>G (p.Ala565=) | |
19 | g.8584965G>T | CA505266636 | ADAMTS10 | c.3132C>A (p.Ala1044=) c.*2009C>A (n.*2009C>A) c.1593C>A (p.Ala531=) c.*2414C>A (n.*2414C>A) c.2175C>A (p.Ala725=) c.3279C>A (p.Ala1093=) c.2955C>A (p.Ala985=) c.1848C>A (p.Ala616=) c.1842C>A (p.Ala614=) c.1701C>A (p.Ala567=) c.1695C>A (p.Ala565=) | gnomAD v4 |
19 | g.8584966G>A | CA403748198 | ADAMTS10 | c.3131C>T (p.Ala1044Val) c.*2008C>T (n.*2008C>T) c.1592C>T (p.Ala531Val) c.*2413C>T (n.*2413C>T) c.2174C>T (p.Ala725Val) c.3278C>T (p.Ala1093Val) c.2954C>T (p.Ala985Val) c.1847C>T (p.Ala616Val) c.1841C>T (p.Ala614Val) c.1700C>T (p.Ala567Val) c.1694C>T (p.Ala565Val) | dbSNP gnomAD v4 |
19 | g.8584966G>C | CA403748200 | ADAMTS10 | c.3131C>G (p.Ala1044Gly) c.*2008C>G (n.*2008C>G) c.1592C>G (p.Ala531Gly) c.*2413C>G (n.*2413C>G) c.2174C>G (p.Ala725Gly) c.3278C>G (p.Ala1093Gly) c.2954C>G (p.Ala985Gly) c.1847C>G (p.Ala616Gly) c.1841C>G (p.Ala614Gly) c.1700C>G (p.Ala567Gly) c.1694C>G (p.Ala565Gly) | |
19 | g.8584966G>T | CA403748199 | ADAMTS10 | c.3131C>A (p.Ala1044Asp) c.*2008C>A (n.*2008C>A) c.1592C>A (p.Ala531Asp) c.*2413C>A (n.*2413C>A) c.2174C>A (p.Ala725Asp) c.3278C>A (p.Ala1093Asp) c.2954C>A (p.Ala985Asp) c.1847C>A (p.Ala616Asp) c.1841C>A (p.Ala614Asp) c.1700C>A (p.Ala567Asp) c.1694C>A (p.Ala565Asp) | gnomAD v4 |
19 | g.8584967C>A | CA403748201 | ADAMTS10 | c.3130G>T (p.Ala1044Ser) c.*2007G>T (n.*2007G>T) c.1591G>T (p.Ala531Ser) c.*2412G>T (n.*2412G>T) c.2173G>T (p.Ala725Ser) c.3277G>T (p.Ala1093Ser) c.2953G>T (p.Ala985Ser) c.1846G>T (p.Ala616Ser) c.1840G>T (p.Ala614Ser) c.1699G>T (p.Ala567Ser) c.1693G>T (p.Ala565Ser) | |
19 | g.8584967C>G | CA403748202 | ADAMTS10 | c.3130G>C (p.Ala1044Pro) c.*2007G>C (n.*2007G>C) c.1591G>C (p.Ala531Pro) c.*2412G>C (n.*2412G>C) c.2173G>C (p.Ala725Pro) c.3277G>C (p.Ala1093Pro) c.2953G>C (p.Ala985Pro) c.1846G>C (p.Ala616Pro) c.1840G>C (p.Ala614Pro) c.1699G>C (p.Ala567Pro) c.1693G>C (p.Ala565Pro) | |
19 | g.8584967C>T | CA403748203 | ADAMTS10 | c.3130G>A (p.Ala1044Thr) c.*2007G>A (n.*2007G>A) c.1591G>A (p.Ala531Thr) c.*2412G>A (n.*2412G>A) c.2173G>A (p.Ala725Thr) c.3277G>A (p.Ala1093Thr) c.2953G>A (p.Ala985Thr) c.1846G>A (p.Ala616Thr) c.1840G>A (p.Ala614Thr) c.1699G>A (p.Ala567Thr) c.1693G>A (p.Ala565Thr) | |
19 | g.8584968C>A | CA403748204 | ADAMTS10 | c.3129G>T (p.Glu1043Asp) c.*2006G>T (n.*2006G>T) c.1590G>T (p.Glu530Asp) c.*2411G>T (n.*2411G>T) c.2172G>T (p.Glu724Asp) c.3276G>T (p.Glu1092Asp) c.2952G>T (p.Glu984Asp) c.1845G>T (p.Glu615Asp) c.1839G>T (p.Glu613Asp) c.1698G>T (p.Glu566Asp) c.1692G>T (p.Glu564Asp) | |
19 | g.8584968C= | CA2321496554 | ADAMTS10 | c.3129G= (p.Glu1043=) c.*2006G= (n.*2006G=) c.1590G= (p.Glu530=) c.*2411G= (n.*2411G=) c.2172G= (p.Glu724=) c.3276G= (p.Glu1092=) c.2952G= (p.Glu984=) c.1845G= (p.Glu615=) c.1839G= (p.Glu613=) c.1698G= (p.Glu566=) c.1692G= (p.Glu564=) | |
19 | g.8584968C>G | CA403748205 | ADAMTS10 | c.3129G>C (p.Glu1043Asp) c.*2006G>C (n.*2006G>C) c.1590G>C (p.Glu530Asp) c.*2411G>C (n.*2411G>C) c.2172G>C (p.Glu724Asp) c.3276G>C (p.Glu1092Asp) c.2952G>C (p.Glu984Asp) c.1845G>C (p.Glu615Asp) c.1839G>C (p.Glu613Asp) c.1698G>C (p.Glu566Asp) c.1692G>C (p.Glu564Asp) | |
19 | g.8584968C>T | CA505266640 | ADAMTS10 | c.3129G>A (p.Glu1043=) c.*2006G>A (n.*2006G>A) c.1590G>A (p.Glu530=) c.*2411G>A (n.*2411G>A) c.2172G>A (p.Glu724=) c.3276G>A (p.Glu1092=) c.2952G>A (p.Glu984=) c.1845G>A (p.Glu615=) c.1839G>A (p.Glu613=) c.1698G>A (p.Glu566=) c.1692G>A (p.Glu564=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584969T>A | CA403748208 | ADAMTS10 | c.3128A>T (p.Glu1043Val) c.*2005A>T (n.*2005A>T) c.1589A>T (p.Glu530Val) c.*2410A>T (n.*2410A>T) c.2171A>T (p.Glu724Val) c.3275A>T (p.Glu1092Val) c.2951A>T (p.Glu984Val) c.1844A>T (p.Glu615Val) c.1838A>T (p.Glu613Val) c.1697A>T (p.Glu566Val) c.1691A>T (p.Glu564Val) | |
19 | g.8584969T>C | CA403748207 | ADAMTS10 | c.3128A>G (p.Glu1043Gly) c.*2005A>G (n.*2005A>G) c.1589A>G (p.Glu530Gly) c.*2410A>G (n.*2410A>G) c.2171A>G (p.Glu724Gly) c.3275A>G (p.Glu1092Gly) c.2951A>G (p.Glu984Gly) c.1844A>G (p.Glu615Gly) c.1838A>G (p.Glu613Gly) c.1697A>G (p.Glu566Gly) c.1691A>G (p.Glu564Gly) | gnomAD v4 |
19 | g.8584969T>G | CA403748206 | ADAMTS10 | c.3128A>C (p.Glu1043Ala) c.*2005A>C (n.*2005A>C) c.1589A>C (p.Glu530Ala) c.*2410A>C (n.*2410A>C) c.2171A>C (p.Glu724Ala) c.3275A>C (p.Glu1092Ala) c.2951A>C (p.Glu984Ala) c.1844A>C (p.Glu615Ala) c.1838A>C (p.Glu613Ala) c.1697A>C (p.Glu566Ala) c.1691A>C (p.Glu564Ala) | |
19 | g.8584970C>A | CA403748209 | ADAMTS10 | c.3127G>T (p.Glu1043Ter) c.*2004G>T (n.*2004G>T) c.1588G>T (p.Glu530Ter) c.*2409G>T (n.*2409G>T) c.2170G>T (p.Glu724Ter) c.3274G>T (p.Glu1092Ter) c.2950G>T (p.Glu984Ter) c.1843G>T (p.Glu615Ter) c.1837G>T (p.Glu613Ter) c.1696G>T (p.Glu566Ter) c.1690G>T (p.Glu564Ter) | gnomAD v4 |
19 | g.8584970C= | CA2321496555 | ADAMTS10 | c.3127G= (p.Glu1043=) c.*2004G= (n.*2004G=) c.1588G= (p.Glu530=) c.*2409G= (n.*2409G=) c.2170G= (p.Glu724=) c.3274G= (p.Glu1092=) c.2950G= (p.Glu984=) c.1843G= (p.Glu615=) c.1837G= (p.Glu613=) c.1696G= (p.Glu566=) c.1690G= (p.Glu564=) | |
19 | g.8584970C>G | CA403748210 | ADAMTS10 | c.3127G>C (p.Glu1043Gln) c.*2004G>C (n.*2004G>C) c.1588G>C (p.Glu530Gln) c.*2409G>C (n.*2409G>C) c.2170G>C (p.Glu724Gln) c.3274G>C (p.Glu1092Gln) c.2950G>C (p.Glu984Gln) c.1843G>C (p.Glu615Gln) c.1837G>C (p.Glu613Gln) c.1696G>C (p.Glu566Gln) c.1690G>C (p.Glu564Gln) | |
19 | g.8584970C>T | CA403748211 | ADAMTS10 | c.3127G>A (p.Glu1043Lys) c.*2004G>A (n.*2004G>A) c.1588G>A (p.Glu530Lys) c.*2409G>A (n.*2409G>A) c.2170G>A (p.Glu724Lys) c.3274G>A (p.Glu1092Lys) c.2950G>A (p.Glu984Lys) c.1843G>A (p.Glu615Lys) c.1837G>A (p.Glu613Lys) c.1696G>A (p.Glu566Lys) c.1690G>A (p.Glu564Lys) | dbSNP gnomAD v2 |
19 | g.8584971C>A | CA505266645 | ADAMTS10 | c.3126G>T (p.Thr1042=) c.*2003G>T (n.*2003G>T) c.1587G>T (p.Thr529=) c.*2408G>T (n.*2408G>T) c.2169G>T (p.Thr723=) c.3273G>T (p.Thr1091=) c.2949G>T (p.Thr983=) c.1842G>T (p.Thr614=) c.1836G>T (p.Thr612=) c.1695G>T (p.Thr565=) c.1689G>T (p.Thr563=) | gnomAD v4 |
19 | g.8584971C= | CA2321496556 | ADAMTS10 | c.3126G= (p.Thr1042=) c.*2003G= (n.*2003G=) c.1587G= (p.Thr529=) c.*2408G= (n.*2408G=) c.2169G= (p.Thr723=) c.3273G= (p.Thr1091=) c.2949G= (p.Thr983=) c.1842G= (p.Thr614=) c.1836G= (p.Thr612=) c.1695G= (p.Thr565=) c.1689G= (p.Thr563=) | |
19 | g.8584971C>G | CA505266647 | ADAMTS10 | c.3126G>C (p.Thr1042=) c.*2003G>C (n.*2003G>C) c.1587G>C (p.Thr529=) c.*2408G>C (n.*2408G>C) c.2169G>C (p.Thr723=) c.3273G>C (p.Thr1091=) c.2949G>C (p.Thr983=) c.1842G>C (p.Thr614=) c.1836G>C (p.Thr612=) c.1695G>C (p.Thr565=) c.1689G>C (p.Thr563=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584971C>T | CA505266650 | ADAMTS10 | c.3126G>A (p.Thr1042=) c.*2003G>A (n.*2003G>A) c.1587G>A (p.Thr529=) c.*2408G>A (n.*2408G>A) c.2169G>A (p.Thr723=) c.3273G>A (p.Thr1091=) c.2949G>A (p.Thr983=) c.1842G>A (p.Thr614=) c.1836G>A (p.Thr612=) c.1695G>A (p.Thr565=) c.1689G>A (p.Thr563=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.8584972G>A | CA403748212 | ADAMTS10 | c.3125C>T (p.Thr1042Met) c.*2002C>T (n.*2002C>T) c.1586C>T (p.Thr529Met) c.*2407C>T (n.*2407C>T) c.2168C>T (p.Thr723Met) c.3272C>T (p.Thr1091Met) c.2948C>T (p.Thr983Met) c.1841C>T (p.Thr614Met) c.1835C>T (p.Thr612Met) c.1694C>T (p.Thr565Met) c.1688C>T (p.Thr563Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.8584972G>C | CA403748213 | ADAMTS10 | c.3125C>G (p.Thr1042Arg) c.*2002C>G (n.*2002C>G) c.1586C>G (p.Thr529Arg) c.*2407C>G (n.*2407C>G) c.2168C>G (p.Thr723Arg) c.3272C>G (p.Thr1091Arg) c.2948C>G (p.Thr983Arg) c.1841C>G (p.Thr614Arg) c.1835C>G (p.Thr612Arg) c.1694C>G (p.Thr565Arg) c.1688C>G (p.Thr563Arg) | |
19 | g.8584972G= | CA2321496557 | ADAMTS10 | c.3125C= (p.Thr1042=) c.*2002C= (n.*2002C=) c.1586C= (p.Thr529=) c.*2407C= (n.*2407C=) c.2168C= (p.Thr723=) c.3272C= (p.Thr1091=) c.2948C= (p.Thr983=) c.1841C= (p.Thr614=) c.1835C= (p.Thr612=) c.1694C= (p.Thr565=) c.1688C= (p.Thr563=) | |
19 | g.8584972G>T | CA403748214 | ADAMTS10 | c.3125C>A (p.Thr1042Lys) c.*2002C>A (n.*2002C>A) c.1586C>A (p.Thr529Lys) c.*2407C>A (n.*2407C>A) c.2168C>A (p.Thr723Lys) c.3272C>A (p.Thr1091Lys) c.2948C>A (p.Thr983Lys) c.1841C>A (p.Thr614Lys) c.1835C>A (p.Thr612Lys) c.1694C>A (p.Thr565Lys) c.1688C>A (p.Thr563Lys) | |
19 | g.8584973T>A | CA403748215 | ADAMTS10 | c.3124A>T (p.Thr1042Ser) c.*2001A>T (n.*2001A>T) c.1585A>T (p.Thr529Ser) c.*2406A>T (n.*2406A>T) c.2167A>T (p.Thr723Ser) c.3271A>T (p.Thr1091Ser) c.2947A>T (p.Thr983Ser) c.1840A>T (p.Thr614Ser) c.1834A>T (p.Thr612Ser) c.1693A>T (p.Thr565Ser) c.1687A>T (p.Thr563Ser) | |
19 | g.8584973T>C | CA403748217 | ADAMTS10 | c.3124A>G (p.Thr1042Ala) c.*2001A>G (n.*2001A>G) c.1585A>G (p.Thr529Ala) c.*2406A>G (n.*2406A>G) c.2167A>G (p.Thr723Ala) c.3271A>G (p.Thr1091Ala) c.2947A>G (p.Thr983Ala) c.1840A>G (p.Thr614Ala) c.1834A>G (p.Thr612Ala) c.1693A>G (p.Thr565Ala) c.1687A>G (p.Thr563Ala) | |
19 | g.8584973T>G | CA403748216 | ADAMTS10 | c.3124A>C (p.Thr1042Pro) c.*2001A>C (n.*2001A>C) c.1585A>C (p.Thr529Pro) c.*2406A>C (n.*2406A>C) c.2167A>C (p.Thr723Pro) c.3271A>C (p.Thr1091Pro) c.2947A>C (p.Thr983Pro) c.1840A>C (p.Thr614Pro) c.1834A>C (p.Thr612Pro) c.1693A>C (p.Thr565Pro) c.1687A>C (p.Thr563Pro) | |
19 | g.8584974G>A | CA505266654 | ADAMTS10 | c.3123C>T (p.Cys1041=) c.*2000C>T (n.*2000C>T) c.1584C>T (p.Cys528=) c.*2405C>T (n.*2405C>T) c.2166C>T (p.Cys722=) c.3270C>T (p.Cys1090=) c.2946C>T (p.Cys982=) c.1839C>T (p.Cys613=) c.1833C>T (p.Cys611=) c.1692C>T (p.Cys564=) c.1686C>T (p.Cys562=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584974G>C | CA403748218 | ADAMTS10 | c.3123C>G (p.Cys1041Trp) c.*2000C>G (n.*2000C>G) c.1584C>G (p.Cys528Trp) c.*2405C>G (n.*2405C>G) c.2166C>G (p.Cys722Trp) c.3270C>G (p.Cys1090Trp) c.2946C>G (p.Cys982Trp) c.1839C>G (p.Cys613Trp) c.1833C>G (p.Cys611Trp) c.1692C>G (p.Cys564Trp) c.1686C>G (p.Cys562Trp) | |
19 | g.8584974G= | CA2321496558 | ADAMTS10 | c.3123C= (p.Cys1041=) c.*2000C= (n.*2000C=) c.1584C= (p.Cys528=) c.*2405C= (n.*2405C=) c.2166C= (p.Cys722=) c.3270C= (p.Cys1090=) c.2946C= (p.Cys982=) c.1839C= (p.Cys613=) c.1833C= (p.Cys611=) c.1692C= (p.Cys564=) c.1686C= (p.Cys562=) | |
19 | g.8584974G>T | CA403748219 | ADAMTS10 | c.3123C>A (p.Cys1041Ter) c.*2000C>A (n.*2000C>A) c.1584C>A (p.Cys528Ter) c.*2405C>A (n.*2405C>A) c.2166C>A (p.Cys722Ter) c.3270C>A (p.Cys1090Ter) c.2946C>A (p.Cys982Ter) c.1839C>A (p.Cys613Ter) c.1833C>A (p.Cys611Ter) c.1692C>A (p.Cys564Ter) c.1686C>A (p.Cys562Ter) | gnomAD v4 |
19 | g.8584975C>A | CA403748220 | ADAMTS10 | c.3122G>T (p.Cys1041Phe) c.*1999G>T (n.*1999G>T) c.1583G>T (p.Cys528Phe) c.*2404G>T (n.*2404G>T) c.2165G>T (p.Cys722Phe) c.3269G>T (p.Cys1090Phe) c.2945G>T (p.Cys982Phe) c.1838G>T (p.Cys613Phe) c.1832G>T (p.Cys611Phe) c.1691G>T (p.Cys564Phe) c.1685G>T (p.Cys562Phe) | gnomAD v4 |
19 | g.8584975C>G | CA403748221 | ADAMTS10 | c.3122G>C (p.Cys1041Ser) c.*1999G>C (n.*1999G>C) c.1583G>C (p.Cys528Ser) c.*2404G>C (n.*2404G>C) c.2165G>C (p.Cys722Ser) c.3269G>C (p.Cys1090Ser) c.2945G>C (p.Cys982Ser) c.1838G>C (p.Cys613Ser) c.1832G>C (p.Cys611Ser) c.1691G>C (p.Cys564Ser) c.1685G>C (p.Cys562Ser) | |
19 | g.8584975C>T | CA403748222 | ADAMTS10 | c.3122G>A (p.Cys1041Tyr) c.*1999G>A (n.*1999G>A) c.1583G>A (p.Cys528Tyr) c.*2404G>A (n.*2404G>A) c.2165G>A (p.Cys722Tyr) c.3269G>A (p.Cys1090Tyr) c.2945G>A (p.Cys982Tyr) c.1838G>A (p.Cys613Tyr) c.1832G>A (p.Cys611Tyr) c.1691G>A (p.Cys564Tyr) c.1685G>A (p.Cys562Tyr) | gnomAD v4 |
19 | g.8584976A>C | CA403748223 | ADAMTS10 | c.3121T>G (p.Cys1041Gly) c.*1998T>G (n.*1998T>G) c.1582T>G (p.Cys528Gly) c.*2403T>G (n.*2403T>G) c.2164T>G (p.Cys722Gly) c.3268T>G (p.Cys1090Gly) c.2944T>G (p.Cys982Gly) c.1837T>G (p.Cys613Gly) c.1831T>G (p.Cys611Gly) c.1690T>G (p.Cys564Gly) c.1684T>G (p.Cys562Gly) | |
19 | g.8584976A>G | CA403748224 | ADAMTS10 | c.3121T>C (p.Cys1041Arg) c.*1998T>C (n.*1998T>C) c.1582T>C (p.Cys528Arg) c.*2403T>C (n.*2403T>C) c.2164T>C (p.Cys722Arg) c.3268T>C (p.Cys1090Arg) c.2944T>C (p.Cys982Arg) c.1837T>C (p.Cys613Arg) c.1831T>C (p.Cys611Arg) c.1690T>C (p.Cys564Arg) c.1684T>C (p.Cys562Arg) | |
19 | g.8584976A>T | CA403748225 | ADAMTS10 | c.3121T>A (p.Cys1041Ser) c.*1998T>A (n.*1998T>A) c.1582T>A (p.Cys528Ser) c.*2403T>A (n.*2403T>A) c.2164T>A (p.Cys722Ser) c.3268T>A (p.Cys1090Ser) c.2944T>A (p.Cys982Ser) c.1837T>A (p.Cys613Ser) c.1831T>A (p.Cys611Ser) c.1690T>A (p.Cys564Ser) c.1684T>A (p.Cys562Ser) | |
19 | g.8584977C>A | CA403748226 | ADAMTS10 | c.3120G>T (p.Glu1040Asp) c.*1997G>T (n.*1997G>T) c.1581G>T (p.Glu527Asp) c.*2402G>T (n.*2402G>T) c.2163G>T (p.Glu721Asp) c.3267G>T (p.Glu1089Asp) c.2943G>T (p.Glu981Asp) c.1836G>T (p.Glu612Asp) c.1830G>T (p.Glu610Asp) c.1689G>T (p.Glu563Asp) c.1683G>T (p.Glu561Asp) | |
19 | g.8584977C= | CA2321496559 | ADAMTS10 | c.3120G= (p.Glu1040=) c.*1997G= (n.*1997G=) c.1581G= (p.Glu527=) c.*2402G= (n.*2402G=) c.2163G= (p.Glu721=) c.3267G= (p.Glu1089=) c.2943G= (p.Glu981=) c.1836G= (p.Glu612=) c.1830G= (p.Glu610=) c.1689G= (p.Glu563=) c.1683G= (p.Glu561=) | |
19 | g.8584977C>G | CA9159972 | ADAMTS10 | c.3120G>C (p.Glu1040Asp) c.*1997G>C (n.*1997G>C) c.1581G>C (p.Glu527Asp) c.*2402G>C (n.*2402G>C) c.2163G>C (p.Glu721Asp) c.3267G>C (p.Glu1089Asp) c.2943G>C (p.Glu981Asp) c.1836G>C (p.Glu612Asp) c.1830G>C (p.Glu610Asp) c.1689G>C (p.Glu563Asp) c.1683G>C (p.Glu561Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8584977C>T | CA505266662 | ADAMTS10 | c.3120G>A (p.Glu1040=) c.*1997G>A (n.*1997G>A) c.1581G>A (p.Glu527=) c.*2402G>A (n.*2402G>A) c.2163G>A (p.Glu721=) c.3267G>A (p.Glu1089=) c.2943G>A (p.Glu981=) c.1836G>A (p.Glu612=) c.1830G>A (p.Glu610=) c.1689G>A (p.Glu563=) c.1683G>A (p.Glu561=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.8584978T>A | CA403748229 | ADAMTS10 | c.3119A>T (p.Glu1040Val) c.*1996A>T (n.*1996A>T) c.1580A>T (p.Glu527Val) c.*2401A>T (n.*2401A>T) c.2162A>T (p.Glu721Val) c.3266A>T (p.Glu1089Val) c.2942A>T (p.Glu981Val) c.1835A>T (p.Glu612Val) c.1829A>T (p.Glu610Val) c.1688A>T (p.Glu563Val) c.1682A>T (p.Glu561Val) | |
19 | g.8584978T>C | CA403748227 | ADAMTS10 | c.3119A>G (p.Glu1040Gly) c.*1996A>G (n.*1996A>G) c.1580A>G (p.Glu527Gly) c.*2401A>G (n.*2401A>G) c.2162A>G (p.Glu721Gly) c.3266A>G (p.Glu1089Gly) c.2942A>G (p.Glu981Gly) c.1835A>G (p.Glu612Gly) c.1829A>G (p.Glu610Gly) c.1688A>G (p.Glu563Gly) c.1682A>G (p.Glu561Gly) | |
19 | g.8584978T>G | CA403748228 | ADAMTS10 | c.3119A>C (p.Glu1040Ala) c.*1996A>C (n.*1996A>C) c.1580A>C (p.Glu527Ala) c.*2401A>C (n.*2401A>C) c.2162A>C (p.Glu721Ala) c.3266A>C (p.Glu1089Ala) c.2942A>C (p.Glu981Ala) c.1835A>C (p.Glu612Ala) c.1829A>C (p.Glu610Ala) c.1688A>C (p.Glu563Ala) c.1682A>C (p.Glu561Ala) | |
19 | g.8584979C>A | CA403748230 | ADAMTS10 | c.3118G>T (p.Glu1040Ter) c.*1995G>T (n.*1995G>T) c.1579G>T (p.Glu527Ter) c.*2400G>T (n.*2400G>T) c.2161G>T (p.Glu721Ter) c.3265G>T (p.Glu1089Ter) c.2941G>T (p.Glu981Ter) c.1834G>T (p.Glu612Ter) c.1828G>T (p.Glu610Ter) c.1687G>T (p.Glu563Ter) c.1681G>T (p.Glu561Ter) | gnomAD v4 |
19 | g.8584979C>G | CA403748232 | ADAMTS10 | c.3118G>C (p.Glu1040Gln) c.*1995G>C (n.*1995G>C) c.1579G>C (p.Glu527Gln) c.*2400G>C (n.*2400G>C) c.2161G>C (p.Glu721Gln) c.3265G>C (p.Glu1089Gln) c.2941G>C (p.Glu981Gln) c.1834G>C (p.Glu612Gln) c.1828G>C (p.Glu610Gln) c.1687G>C (p.Glu563Gln) c.1681G>C (p.Glu561Gln) | |
19 | g.8584979C>T | CA403748231 | ADAMTS10 | c.3118G>A (p.Glu1040Lys) c.*1995G>A (n.*1995G>A) c.1579G>A (p.Glu527Lys) c.*2400G>A (n.*2400G>A) c.2161G>A (p.Glu721Lys) c.3265G>A (p.Glu1089Lys) c.2941G>A (p.Glu981Lys) c.1834G>A (p.Glu612Lys) c.1828G>A (p.Glu610Lys) c.1687G>A (p.Glu563Lys) c.1681G>A (p.Glu561Lys) | gnomAD v4 |
19 | g.8584980G>A | CA505266668 | ADAMTS10 | c.3117C>T (p.His1039=) c.*1994C>T (n.*1994C>T) c.1578C>T (p.His526=) c.*2399C>T (n.*2399C>T) c.2160C>T (p.His720=) c.3264C>T (p.His1088=) c.2940C>T (p.His980=) c.1833C>T (p.His611=) c.1827C>T (p.His609=) c.1686C>T (p.His562=) c.1680C>T (p.His560=) | |
19 | g.8584980G>C | CA403748233 | ADAMTS10 | c.3117C>G (p.His1039Gln) c.*1994C>G (n.*1994C>G) c.1578C>G (p.His526Gln) c.*2399C>G (n.*2399C>G) c.2160C>G (p.His720Gln) c.3264C>G (p.His1088Gln) c.2940C>G (p.His980Gln) c.1833C>G (p.His611Gln) c.1827C>G (p.His609Gln) c.1686C>G (p.His562Gln) c.1680C>G (p.His560Gln) | |
19 | g.8584980G>T | CA403748234 | ADAMTS10 | c.3117C>A (p.His1039Gln) c.*1994C>A (n.*1994C>A) c.1578C>A (p.His526Gln) c.*2399C>A (n.*2399C>A) c.2160C>A (p.His720Gln) c.3264C>A (p.His1088Gln) c.2940C>A (p.His980Gln) c.1833C>A (p.His611Gln) c.1827C>A (p.His609Gln) c.1686C>A (p.His562Gln) c.1680C>A (p.His560Gln) | gnomAD v4 |
19 | g.8584981T>A | CA403748235 | ADAMTS10 | c.3116A>T (p.His1039Leu) c.*1993A>T (n.*1993A>T) c.1577A>T (p.His526Leu) c.*2398A>T (n.*2398A>T) c.2159A>T (p.His720Leu) c.3263A>T (p.His1088Leu) c.2939A>T (p.His980Leu) c.1832A>T (p.His611Leu) c.1826A>T (p.His609Leu) c.1685A>T (p.His562Leu) c.1679A>T (p.His560Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584981T>C | CA403748236 | ADAMTS10 | c.3116A>G (p.His1039Arg) c.*1993A>G (n.*1993A>G) c.1577A>G (p.His526Arg) c.*2398A>G (n.*2398A>G) c.2159A>G (p.His720Arg) c.3263A>G (p.His1088Arg) c.2939A>G (p.His980Arg) c.1832A>G (p.His611Arg) c.1826A>G (p.His609Arg) c.1685A>G (p.His562Arg) c.1679A>G (p.His560Arg) | |
19 | g.8584981T>G | CA304997184 | ADAMTS10 | c.3116A>C (p.His1039Pro) c.*1993A>C (n.*1993A>C) c.1577A>C (p.His526Pro) c.*2398A>C (n.*2398A>C) c.2159A>C (p.His720Pro) c.3263A>C (p.His1088Pro) c.2939A>C (p.His980Pro) c.1832A>C (p.His611Pro) c.1826A>C (p.His609Pro) c.1685A>C (p.His562Pro) c.1679A>C (p.His560Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584981T= | CA2321496560 | ADAMTS10 | c.3116A= (p.His1039=) c.*1993A= (n.*1993A=) c.1577A= (p.His526=) c.*2398A= (n.*2398A=) c.2159A= (p.His720=) c.3263A= (p.His1088=) c.2939A= (p.His980=) c.1832A= (p.His611=) c.1826A= (p.His609=) c.1685A= (p.His562=) c.1679A= (p.His560=) | |
19 | g.8584982G>A | CA403748237 | ADAMTS10 | c.3115C>T (p.His1039Tyr) c.*1992C>T (n.*1992C>T) c.1576C>T (p.His526Tyr) c.*2397C>T (n.*2397C>T) c.2158C>T (p.His720Tyr) c.3262C>T (p.His1088Tyr) c.2938C>T (p.His980Tyr) c.1831C>T (p.His611Tyr) c.1825C>T (p.His609Tyr) c.1684C>T (p.His562Tyr) c.1678C>T (p.His560Tyr) | |
19 | g.8584982G>C | CA403748238 | ADAMTS10 | c.3115C>G (p.His1039Asp) c.*1992C>G (n.*1992C>G) c.1576C>G (p.His526Asp) c.*2397C>G (n.*2397C>G) c.2158C>G (p.His720Asp) c.3262C>G (p.His1088Asp) c.2938C>G (p.His980Asp) c.1831C>G (p.His611Asp) c.1825C>G (p.His609Asp) c.1684C>G (p.His562Asp) c.1678C>G (p.His560Asp) | |
19 | g.8584982G>T | CA403748239 | ADAMTS10 | c.3115C>A (p.His1039Asn) c.*1992C>A (n.*1992C>A) c.1576C>A (p.His526Asn) c.*2397C>A (n.*2397C>A) c.2158C>A (p.His720Asn) c.3262C>A (p.His1088Asn) c.2938C>A (p.His980Asn) c.1831C>A (p.His611Asn) c.1825C>A (p.His609Asn) c.1684C>A (p.His562Asn) c.1678C>A (p.His560Asn) | gnomAD v4 |
19 | g.8584983C>A | CA505266673 | ADAMTS10 | c.3114G>T (p.Ser1038=) c.*1991G>T (n.*1991G>T) c.1575G>T (p.Ser525=) c.*2396G>T (n.*2396G>T) c.2157G>T (p.Ser719=) c.3261G>T (p.Ser1087=) c.2937G>T (p.Ser979=) c.1830G>T (p.Ser610=) c.1824G>T (p.Ser608=) c.1683G>T (p.Ser561=) c.1677G>T (p.Ser559=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584983C= | CA2321496561 | ADAMTS10 | c.3114G= (p.Ser1038=) c.*1991G= (n.*1991G=) c.1575G= (p.Ser525=) c.*2396G= (n.*2396G=) c.2157G= (p.Ser719=) c.3261G= (p.Ser1087=) c.2937G= (p.Ser979=) c.1830G= (p.Ser610=) c.1824G= (p.Ser608=) c.1683G= (p.Ser561=) c.1677G= (p.Ser559=) | |
19 | g.8584983C>G | CA505266677 | ADAMTS10 | c.3114G>C (p.Ser1038=) c.*1991G>C (n.*1991G>C) c.1575G>C (p.Ser525=) c.*2396G>C (n.*2396G>C) c.2157G>C (p.Ser719=) c.3261G>C (p.Ser1087=) c.2937G>C (p.Ser979=) c.1830G>C (p.Ser610=) c.1824G>C (p.Ser608=) c.1683G>C (p.Ser561=) c.1677G>C (p.Ser559=) | |
19 | g.8584983C>T | CA505266678 | ADAMTS10 | c.3114G>A (p.Ser1038=) c.*1991G>A (n.*1991G>A) c.1575G>A (p.Ser525=) c.*2396G>A (n.*2396G>A) c.2157G>A (p.Ser719=) c.3261G>A (p.Ser1087=) c.2937G>A (p.Ser979=) c.1830G>A (p.Ser610=) c.1824G>A (p.Ser608=) c.1683G>A (p.Ser561=) c.1677G>A (p.Ser559=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8584984G>A | CA403748240 | ADAMTS10 | c.3113C>T (p.Ser1038Leu) c.*1990C>T (n.*1990C>T) c.1574C>T (p.Ser525Leu) c.*2395C>T (n.*2395C>T) c.2156C>T (p.Ser719Leu) c.3260C>T (p.Ser1087Leu) c.2936C>T (p.Ser979Leu) c.1829C>T (p.Ser610Leu) c.1823C>T (p.Ser608Leu) c.1682C>T (p.Ser561Leu) c.1676C>T (p.Ser559Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584984G>C | CA403748241 | ADAMTS10 | c.3113C>G (p.Ser1038Trp) c.*1990C>G (n.*1990C>G) c.1574C>G (p.Ser525Trp) c.*2395C>G (n.*2395C>G) c.2156C>G (p.Ser719Trp) c.3260C>G (p.Ser1087Trp) c.2936C>G (p.Ser979Trp) c.1829C>G (p.Ser610Trp) c.1823C>G (p.Ser608Trp) c.1682C>G (p.Ser561Trp) c.1676C>G (p.Ser559Trp) | |
19 | g.8584984G= | CA2321496562 | ADAMTS10 | c.3113C= (p.Ser1038=) c.*1990C= (n.*1990C=) c.1574C= (p.Ser525=) c.*2395C= (n.*2395C=) c.2156C= (p.Ser719=) c.3260C= (p.Ser1087=) c.2936C= (p.Ser979=) c.1829C= (p.Ser610=) c.1823C= (p.Ser608=) c.1682C= (p.Ser561=) c.1676C= (p.Ser559=) | |
19 | g.8584984G>T | CA403748242 | ADAMTS10 | c.3113C>A (p.Ser1038Ter) c.*1990C>A (n.*1990C>A) c.1574C>A (p.Ser525Ter) c.*2395C>A (n.*2395C>A) c.2156C>A (p.Ser719Ter) c.3260C>A (p.Ser1087Ter) c.2936C>A (p.Ser979Ter) c.1829C>A (p.Ser610Ter) c.1823C>A (p.Ser608Ter) c.1682C>A (p.Ser561Ter) c.1676C>A (p.Ser559Ter) | gnomAD v4 |
19 | g.8584985A= | CA2321496563 | ADAMTS10 | c.3112T= (p.Ser1038=) c.*1989T= (n.*1989T=) c.1573T= (p.Ser525=) c.*2394T= (n.*2394T=) c.2155T= (p.Ser719=) c.3259T= (p.Ser1087=) c.2935T= (p.Ser979=) c.1828T= (p.Ser610=) c.1822T= (p.Ser608=) c.1681T= (p.Ser561=) c.1675T= (p.Ser559=) | |
19 | g.8584985A>C | CA403748245 | ADAMTS10 | c.3112T>G (p.Ser1038Ala) c.*1989T>G (n.*1989T>G) c.1573T>G (p.Ser525Ala) c.*2394T>G (n.*2394T>G) c.2155T>G (p.Ser719Ala) c.3259T>G (p.Ser1087Ala) c.2935T>G (p.Ser979Ala) c.1828T>G (p.Ser610Ala) c.1822T>G (p.Ser608Ala) c.1681T>G (p.Ser561Ala) c.1675T>G (p.Ser559Ala) | |
19 | g.8584985A>G | CA403748243 | ADAMTS10 | c.3112T>C (p.Ser1038Pro) c.*1989T>C (n.*1989T>C) c.1573T>C (p.Ser525Pro) c.*2394T>C (n.*2394T>C) c.2155T>C (p.Ser719Pro) c.3259T>C (p.Ser1087Pro) c.2935T>C (p.Ser979Pro) c.1828T>C (p.Ser610Pro) c.1822T>C (p.Ser608Pro) c.1681T>C (p.Ser561Pro) c.1675T>C (p.Ser559Pro) | |
19 | g.8584985A>T | CA403748244 | ADAMTS10 | c.3112T>A (p.Ser1038Thr) c.*1989T>A (n.*1989T>A) c.1573T>A (p.Ser525Thr) c.*2394T>A (n.*2394T>A) c.2155T>A (p.Ser719Thr) c.3259T>A (p.Ser1087Thr) c.2935T>A (p.Ser979Thr) c.1828T>A (p.Ser610Thr) c.1822T>A (p.Ser608Thr) c.1681T>A (p.Ser561Thr) c.1675T>A (p.Ser559Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584986C>A | CA505266682 | ADAMTS10 | c.3111G>T (p.Ala1037=) c.*1988G>T (n.*1988G>T) c.1572G>T (p.Ala524=) c.*2393G>T (n.*2393G>T) c.2154G>T (p.Ala718=) c.3258G>T (p.Ala1086=) c.2934G>T (p.Ala978=) c.1827G>T (p.Ala609=) c.1821G>T (p.Ala607=) c.1680G>T (p.Ala560=) c.1674G>T (p.Ala558=) | gnomAD v4 |
19 | g.8584986C= | CA2321496564 | ADAMTS10 | c.3111G= (p.Ala1037=) c.*1988G= (n.*1988G=) c.1572G= (p.Ala524=) c.*2393G= (n.*2393G=) c.2154G= (p.Ala718=) c.3258G= (p.Ala1086=) c.2934G= (p.Ala978=) c.1827G= (p.Ala609=) c.1821G= (p.Ala607=) c.1680G= (p.Ala560=) c.1674G= (p.Ala558=) | |
19 | g.8584986C>G | CA505266683 | ADAMTS10 | c.3111G>C (p.Ala1037=) c.*1988G>C (n.*1988G>C) c.1572G>C (p.Ala524=) c.*2393G>C (n.*2393G>C) c.2154G>C (p.Ala718=) c.3258G>C (p.Ala1086=) c.2934G>C (p.Ala978=) c.1827G>C (p.Ala609=) c.1821G>C (p.Ala607=) c.1680G>C (p.Ala560=) c.1674G>C (p.Ala558=) | |
19 | g.8584986C>T | CA304997185 | ADAMTS10 | c.3111G>A (p.Ala1037=) c.*1988G>A (n.*1988G>A) c.1572G>A (p.Ala524=) c.*2393G>A (n.*2393G>A) c.2154G>A (p.Ala718=) c.3258G>A (p.Ala1086=) c.2934G>A (p.Ala978=) c.1827G>A (p.Ala609=) c.1821G>A (p.Ala607=) c.1680G>A (p.Ala560=) c.1674G>A (p.Ala558=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.8584987G>A | CA403748246 | ADAMTS10 | c.3110C>T (p.Ala1037Val) c.*1987C>T (n.*1987C>T) c.1571C>T (p.Ala524Val) c.*2392C>T (n.*2392C>T) c.2153C>T (p.Ala718Val) c.3257C>T (p.Ala1086Val) c.2933C>T (p.Ala978Val) c.1826C>T (p.Ala609Val) c.1820C>T (p.Ala607Val) c.1679C>T (p.Ala560Val) c.1673C>T (p.Ala558Val) | gnomAD v4 |
19 | g.8584987G>C | CA403748247 | ADAMTS10 | c.3110C>G (p.Ala1037Gly) c.*1987C>G (n.*1987C>G) c.1571C>G (p.Ala524Gly) c.*2392C>G (n.*2392C>G) c.2153C>G (p.Ala718Gly) c.3257C>G (p.Ala1086Gly) c.2933C>G (p.Ala978Gly) c.1826C>G (p.Ala609Gly) c.1820C>G (p.Ala607Gly) c.1679C>G (p.Ala560Gly) c.1673C>G (p.Ala558Gly) | |
19 | g.8584987G= | CA2321496565 | ADAMTS10 | c.3110C= (p.Ala1037=) c.*1987C= (n.*1987C=) c.1571C= (p.Ala524=) c.*2392C= (n.*2392C=) c.2153C= (p.Ala718=) c.3257C= (p.Ala1086=) c.2933C= (p.Ala978=) c.1826C= (p.Ala609=) c.1820C= (p.Ala607=) c.1679C= (p.Ala560=) c.1673C= (p.Ala558=) | |
19 | g.8584987G>T | CA403748248 | ADAMTS10 | c.3110C>A (p.Ala1037Glu) c.*1987C>A (n.*1987C>A) c.1571C>A (p.Ala524Glu) c.*2392C>A (n.*2392C>A) c.2153C>A (p.Ala718Glu) c.3257C>A (p.Ala1086Glu) c.2933C>A (p.Ala978Glu) c.1826C>A (p.Ala609Glu) c.1820C>A (p.Ala607Glu) c.1679C>A (p.Ala560Glu) c.1673C>A (p.Ala558Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8584988C>A | CA403748249 | ADAMTS10 | c.3109G>T (p.Ala1037Ser) c.*1986G>T (n.*1986G>T) c.1570G>T (p.Ala524Ser) c.*2391G>T (n.*2391G>T) c.2152G>T (p.Ala718Ser) c.3256G>T (p.Ala1086Ser) c.2932G>T (p.Ala978Ser) c.1825G>T (p.Ala609Ser) c.1819G>T (p.Ala607Ser) c.1678G>T (p.Ala560Ser) c.1672G>T (p.Ala558Ser) | gnomAD v4 |
19 | g.8584988C>G | CA403748250 | ADAMTS10 | c.3109G>C (p.Ala1037Pro) c.*1986G>C (n.*1986G>C) c.1570G>C (p.Ala524Pro) c.*2391G>C (n.*2391G>C) c.2152G>C (p.Ala718Pro) c.3256G>C (p.Ala1086Pro) c.2932G>C (p.Ala978Pro) c.1825G>C (p.Ala609Pro) c.1819G>C (p.Ala607Pro) c.1678G>C (p.Ala560Pro) c.1672G>C (p.Ala558Pro) | |
19 | g.8584988C>T | CA403748251 | ADAMTS10 | c.3109G>A (p.Ala1037Thr) c.*1986G>A (n.*1986G>A) c.1570G>A (p.Ala524Thr) c.*2391G>A (n.*2391G>A) c.2152G>A (p.Ala718Thr) c.3256G>A (p.Ala1086Thr) c.2932G>A (p.Ala978Thr) c.1825G>A (p.Ala609Thr) c.1819G>A (p.Ala607Thr) c.1678G>A (p.Ala560Thr) c.1672G>A (p.Ala558Thr) | |
19 | g.8584989C>A | CA403748252 | ADAMTS10 | c.3108G>T (p.Gln1036His) c.*1985G>T (n.*1985G>T) c.1569G>T (p.Gln523His) c.*2390G>T (n.*2390G>T) c.2151G>T (p.Gln717His) c.3255G>T (p.Gln1085His) c.2931G>T (p.Gln977His) c.1824G>T (p.Gln608His) c.1818G>T (p.Gln606His) c.1677G>T (p.Gln559His) c.1671G>T (p.Gln557His) | gnomAD v4 |
19 | g.8584989C= | CA2321496566 | ADAMTS10 | c.3108G= (p.Gln1036=) c.*1985G= (n.*1985G=) c.1569G= (p.Gln523=) c.*2390G= (n.*2390G=) c.2151G= (p.Gln717=) c.3255G= (p.Gln1085=) c.2931G= (p.Gln977=) c.1824G= (p.Gln608=) c.1818G= (p.Gln606=) c.1677G= (p.Gln559=) c.1671G= (p.Gln557=) | |
19 | g.8584989C>G | CA403748253 | ADAMTS10 | c.3108G>C (p.Gln1036His) c.*1985G>C (n.*1985G>C) c.1569G>C (p.Gln523His) c.*2390G>C (n.*2390G>C) c.2151G>C (p.Gln717His) c.3255G>C (p.Gln1085His) c.2931G>C (p.Gln977His) c.1824G>C (p.Gln608His) c.1818G>C (p.Gln606His) c.1677G>C (p.Gln559His) c.1671G>C (p.Gln557His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.8584989C>T | CA505266689 | ADAMTS10 | c.3108G>A (p.Gln1036=) c.*1985G>A (n.*1985G>A) c.1569G>A (p.Gln523=) c.*2390G>A (n.*2390G>A) c.2151G>A (p.Gln717=) c.3255G>A (p.Gln1085=) c.2931G>A (p.Gln977=) c.1824G>A (p.Gln608=) c.1818G>A (p.Gln606=) c.1677G>A (p.Gln559=) c.1671G>A (p.Gln557=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8584990T>A | CA403748254 | ADAMTS10 | c.3107A>T (p.Gln1036Leu) c.*1984A>T (n.*1984A>T) c.1568A>T (p.Gln523Leu) c.*2389A>T (n.*2389A>T) c.2150A>T (p.Gln717Leu) c.3254A>T (p.Gln1085Leu) c.2930A>T (p.Gln977Leu) c.1823A>T (p.Gln608Leu) c.1817A>T (p.Gln606Leu) c.1676A>T (p.Gln559Leu) c.1670A>T (p.Gln557Leu) | |
19 | g.8584990T>C | CA403748255 | ADAMTS10 | c.3107A>G (p.Gln1036Arg) c.*1984A>G (n.*1984A>G) c.1568A>G (p.Gln523Arg) c.*2389A>G (n.*2389A>G) c.2150A>G (p.Gln717Arg) c.3254A>G (p.Gln1085Arg) c.2930A>G (p.Gln977Arg) c.1823A>G (p.Gln608Arg) c.1817A>G (p.Gln606Arg) c.1676A>G (p.Gln559Arg) c.1670A>G (p.Gln557Arg) | gnomAD v4 |
19 | g.8584990T>G | CA403748256 | ADAMTS10 | c.3107A>C (p.Gln1036Pro) c.*1984A>C (n.*1984A>C) c.1568A>C (p.Gln523Pro) c.*2389A>C (n.*2389A>C) c.2150A>C (p.Gln717Pro) c.3254A>C (p.Gln1085Pro) c.2930A>C (p.Gln977Pro) c.1823A>C (p.Gln608Pro) c.1817A>C (p.Gln606Pro) c.1676A>C (p.Gln559Pro) c.1670A>C (p.Gln557Pro) | |
19 | g.8584991G>A | CA403748259 | ADAMTS10 | c.3106C>T (p.Gln1036Ter) c.*1983C>T (n.*1983C>T) c.1567C>T (p.Gln523Ter) c.*2388C>T (n.*2388C>T) c.2149C>T (p.Gln717Ter) c.3253C>T (p.Gln1085Ter) c.2929C>T (p.Gln977Ter) c.1822C>T (p.Gln608Ter) c.1816C>T (p.Gln606Ter) c.1675C>T (p.Gln559Ter) c.1669C>T (p.Gln557Ter) | |
19 | g.8584991G>C | CA403748258 | ADAMTS10 | c.3106C>G (p.Gln1036Glu) c.*1983C>G (n.*1983C>G) c.1567C>G (p.Gln523Glu) c.*2388C>G (n.*2388C>G) c.2149C>G (p.Gln717Glu) c.3253C>G (p.Gln1085Glu) c.2929C>G (p.Gln977Glu) c.1822C>G (p.Gln608Glu) c.1816C>G (p.Gln606Glu) c.1675C>G (p.Gln559Glu) c.1669C>G (p.Gln557Glu) | |
19 | g.8584991G>T | CA403748257 | ADAMTS10 | c.3106C>A (p.Gln1036Lys) c.*1983C>A (n.*1983C>A) c.1567C>A (p.Gln523Lys) c.*2388C>A (n.*2388C>A) c.2149C>A (p.Gln717Lys) c.3253C>A (p.Gln1085Lys) c.2929C>A (p.Gln977Lys) c.1822C>A (p.Gln608Lys) c.1816C>A (p.Gln606Lys) c.1675C>A (p.Gln559Lys) c.1669C>A (p.Gln557Lys) | gnomAD v4 |
19 | g.8584992G>A | CA505266691 | ADAMTS10 | c.3105C>T (p.Gly1035=) c.*1982C>T (n.*1982C>T) c.1566C>T (p.Gly522=) c.*2387C>T (n.*2387C>T) c.2148C>T (p.Gly716=) c.3252C>T (p.Gly1084=) c.2928C>T (p.Gly976=) c.1821C>T (p.Gly607=) c.1815C>T (p.Gly605=) c.1674C>T (p.Gly558=) c.1668C>T (p.Gly556=) | gnomAD v4 |
19 | g.8584992G>C | CA505266692 | ADAMTS10 | c.3105C>G (p.Gly1035=) c.*1982C>G (n.*1982C>G) c.1566C>G (p.Gly522=) c.*2387C>G (n.*2387C>G) c.2148C>G (p.Gly716=) c.3252C>G (p.Gly1084=) c.2928C>G (p.Gly976=) c.1821C>G (p.Gly607=) c.1815C>G (p.Gly605=) c.1674C>G (p.Gly558=) c.1668C>G (p.Gly556=) | |
19 | g.8584992G>T | CA505266694 | ADAMTS10 | c.3105C>A (p.Gly1035=) c.*1982C>A (n.*1982C>A) c.1566C>A (p.Gly522=) c.*2387C>A (n.*2387C>A) c.2148C>A (p.Gly716=) c.3252C>A (p.Gly1084=) c.2928C>A (p.Gly976=) c.1821C>A (p.Gly607=) c.1815C>A (p.Gly605=) c.1674C>A (p.Gly558=) c.1668C>A (p.Gly556=) | ClinVar gnomAD v4 |
19 | g.8584993C>A | CA403748262 | ADAMTS10 | c.3104G>T (p.Gly1035Val) c.*1981G>T (n.*1981G>T) c.1565G>T (p.Gly522Val) c.*2386G>T (n.*2386G>T) c.2147G>T (p.Gly716Val) c.3251G>T (p.Gly1084Val) c.2927G>T (p.Gly976Val) c.1820G>T (p.Gly607Val) c.1814G>T (p.Gly605Val) c.1673G>T (p.Gly558Val) c.1667G>T (p.Gly556Val) | |
19 | g.8584993C>G | CA403748260 | ADAMTS10 | c.3104G>C (p.Gly1035Ala) c.*1981G>C (n.*1981G>C) c.1565G>C (p.Gly522Ala) c.*2386G>C (n.*2386G>C) c.2147G>C (p.Gly716Ala) c.3251G>C (p.Gly1084Ala) c.2927G>C (p.Gly976Ala) c.1820G>C (p.Gly607Ala) c.1814G>C (p.Gly605Ala) c.1673G>C (p.Gly558Ala) c.1667G>C (p.Gly556Ala) | |
19 | g.8584993C>T | CA403748261 | ADAMTS10 | c.3104G>A (p.Gly1035Asp) c.*1981G>A (n.*1981G>A) c.1565G>A (p.Gly522Asp) c.*2386G>A (n.*2386G>A) c.2147G>A (p.Gly716Asp) c.3251G>A (p.Gly1084Asp) c.2927G>A (p.Gly976Asp) c.1820G>A (p.Gly607Asp) c.1814G>A (p.Gly605Asp) c.1673G>A (p.Gly558Asp) c.1667G>A (p.Gly556Asp) | gnomAD v4 |
19 | g.8584994C>A | CA403748263 | ADAMTS10 | c.3103G>T (p.Gly1035Cys) c.*1980G>T (n.*1980G>T) c.1564G>T (p.Gly522Cys) c.*2385G>T (n.*2385G>T) c.2146G>T (p.Gly716Cys) c.3250G>T (p.Gly1084Cys) c.2926G>T (p.Gly976Cys) c.1819G>T (p.Gly607Cys) c.1813G>T (p.Gly605Cys) c.1672G>T (p.Gly558Cys) c.1666G>T (p.Gly556Cys) | gnomAD v4 |
19 | g.8584994C= | CA2321496567 | ADAMTS10 | c.3103G= (p.Gly1035=) c.*1980G= (n.*1980G=) c.1564G= (p.Gly522=) c.*2385G= (n.*2385G=) c.2146G= (p.Gly716=) c.3250G= (p.Gly1084=) c.2926G= (p.Gly976=) c.1819G= (p.Gly607=) c.1813G= (p.Gly605=) c.1672G= (p.Gly558=) c.1666G= (p.Gly556=) | |
19 | g.8584994C>G | CA403748264 | ADAMTS10 | c.3103G>C (p.Gly1035Arg) c.*1980G>C (n.*1980G>C) c.1564G>C (p.Gly522Arg) c.*2385G>C (n.*2385G>C) c.2146G>C (p.Gly716Arg) c.3250G>C (p.Gly1084Arg) c.2926G>C (p.Gly976Arg) c.1819G>C (p.Gly607Arg) c.1813G>C (p.Gly605Arg) c.1672G>C (p.Gly558Arg) c.1666G>C (p.Gly556Arg) | dbSNP gnomAD v4 |
19 | g.8584994C>T | CA403748265 | ADAMTS10 | c.3103G>A (p.Gly1035Ser) c.*1980G>A (n.*1980G>A) c.1564G>A (p.Gly522Ser) c.*2385G>A (n.*2385G>A) c.2146G>A (p.Gly716Ser) c.3250G>A (p.Gly1084Ser) c.2926G>A (p.Gly976Ser) c.1819G>A (p.Gly607Ser) c.1813G>A (p.Gly605Ser) c.1672G>A (p.Gly558Ser) c.1666G>A (p.Gly556Ser) | gnomAD v4 |
19 | g.8584995C>A | CA505266699 | ADAMTS10 | c.3102G>T (p.Thr1034=) c.*1979G>T (n.*1979G>T) c.1563G>T (p.Thr521=) c.*2384G>T (n.*2384G>T) c.2145G>T (p.Thr715=) c.3249G>T (p.Thr1083=) c.2925G>T (p.Thr975=) c.1818G>T (p.Thr606=) c.1812G>T (p.Thr604=) c.1671G>T (p.Thr557=) c.1665G>T (p.Thr555=) | gnomAD v4 |
19 | g.8584995C= | CA2321496568 | ADAMTS10 | c.3102G= (p.Thr1034=) c.*1979G= (n.*1979G=) c.1563G= (p.Thr521=) c.*2384G= (n.*2384G=) c.2145G= (p.Thr715=) c.3249G= (p.Thr1083=) c.2925G= (p.Thr975=) c.1818G= (p.Thr606=) c.1812G= (p.Thr604=) c.1671G= (p.Thr557=) c.1665G= (p.Thr555=) | |
19 | g.8584995C>G | CA505266697 | ADAMTS10 | c.3102G>C (p.Thr1034=) c.*1979G>C (n.*1979G>C) c.1563G>C (p.Thr521=) c.*2384G>C (n.*2384G>C) c.2145G>C (p.Thr715=) c.3249G>C (p.Thr1083=) c.2925G>C (p.Thr975=) c.1818G>C (p.Thr606=) c.1812G>C (p.Thr604=) c.1671G>C (p.Thr557=) c.1665G>C (p.Thr555=) | gnomAD v4 |
19 | g.8584995C>T | CA9159973 | ADAMTS10 | c.3102G>A (p.Thr1034=) c.*1979G>A (n.*1979G>A) c.1563G>A (p.Thr521=) c.*2384G>A (n.*2384G>A) c.2145G>A (p.Thr715=) c.3249G>A (p.Thr1083=) c.2925G>A (p.Thr975=) c.1818G>A (p.Thr606=) c.1812G>A (p.Thr604=) c.1671G>A (p.Thr557=) c.1665G>A (p.Thr555=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.8584996G>A | CA403748267 | ADAMTS10 | c.3101C>T (p.Thr1034Met) c.*1978C>T (n.*1978C>T) c.1562C>T (p.Thr521Met) c.*2383C>T (n.*2383C>T) c.2144C>T (p.Thr715Met) c.3248C>T (p.Thr1083Met) c.2924C>T (p.Thr975Met) c.1817C>T (p.Thr606Met) c.1811C>T (p.Thr604Met) c.1670C>T (p.Thr557Met) c.1664C>T (p.Thr555Met) | gnomAD v4 |
19 | g.8584996G>C | CA403748266 | ADAMTS10 | c.3101C>G (p.Thr1034Arg) c.*1978C>G (n.*1978C>G) c.1562C>G (p.Thr521Arg) c.*2383C>G (n.*2383C>G) c.2144C>G (p.Thr715Arg) c.3248C>G (p.Thr1083Arg) c.2924C>G (p.Thr975Arg) c.1817C>G (p.Thr606Arg) c.1811C>G (p.Thr604Arg) c.1670C>G (p.Thr557Arg) c.1664C>G (p.Thr555Arg) | gnomAD v4 |
19 | g.8584996G= | CA2321496569 | ADAMTS10 | c.3101C= (p.Thr1034=) c.*1978C= (n.*1978C=) c.1562C= (p.Thr521=) c.*2383C= (n.*2383C=) c.2144C= (p.Thr715=) c.3248C= (p.Thr1083=) c.2924C= (p.Thr975=) c.1817C= (p.Thr606=) c.1811C= (p.Thr604=) c.1670C= (p.Thr557=) c.1664C= (p.Thr555=) | |
19 | g.8584996G>T | CA304997186 | ADAMTS10 | c.3101C>A (p.Thr1034Lys) c.*1978C>A (n.*1978C>A) c.1562C>A (p.Thr521Lys) c.*2383C>A (n.*2383C>A) c.2144C>A (p.Thr715Lys) c.3248C>A (p.Thr1083Lys) c.2924C>A (p.Thr975Lys) c.1817C>A (p.Thr606Lys) c.1811C>A (p.Thr604Lys) c.1670C>A (p.Thr557Lys) c.1664C>A (p.Thr555Lys) | dbSNP gnomAD v4 |
19 | g.8584997T>A | CA403748268 | ADAMTS10 | c.3100A>T (p.Thr1034Ser) c.*1977A>T (n.*1977A>T) c.1561A>T (p.Thr521Ser) c.*2382A>T (n.*2382A>T) c.2143A>T (p.Thr715Ser) c.3247A>T (p.Thr1083Ser) c.2923A>T (p.Thr975Ser) c.1816A>T (p.Thr606Ser) c.1810A>T (p.Thr604Ser) c.1669A>T (p.Thr557Ser) c.1663A>T (p.Thr555Ser) | |
19 | g.8584997T>C | CA403748269 | ADAMTS10 | c.3100A>G (p.Thr1034Ala) c.*1977A>G (n.*1977A>G) c.1561A>G (p.Thr521Ala) c.*2382A>G (n.*2382A>G) c.2143A>G (p.Thr715Ala) c.3247A>G (p.Thr1083Ala) c.2923A>G (p.Thr975Ala) c.1816A>G (p.Thr606Ala) c.1810A>G (p.Thr604Ala) c.1669A>G (p.Thr557Ala) c.1663A>G (p.Thr555Ala) | gnomAD v4 |
19 | g.8584997T>G | CA403748270 | ADAMTS10 | c.3100A>C (p.Thr1034Pro) c.*1977A>C (n.*1977A>C) c.1561A>C (p.Thr521Pro) c.*2382A>C (n.*2382A>C) c.2143A>C (p.Thr715Pro) c.3247A>C (p.Thr1083Pro) c.2923A>C (p.Thr975Pro) c.1816A>C (p.Thr606Pro) c.1810A>C (p.Thr604Pro) c.1669A>C (p.Thr557Pro) c.1663A>C (p.Thr555Pro) | |
19 | g.8584998G>A | CA505266701 | ADAMTS10 | c.3099C>T (p.His1033=) c.*1976C>T (n.*1976C>T) c.1560C>T (p.His520=) c.*2381C>T (n.*2381C>T) c.2142C>T (p.His714=) c.3246C>T (p.His1082=) c.2922C>T (p.His974=) c.1815C>T (p.His605=) c.1809C>T (p.His603=) c.1668C>T (p.His556=) c.1662C>T (p.His554=) | |
19 | g.8584998G>C | CA403748271 | ADAMTS10 | c.3099C>G (p.His1033Gln) c.*1976C>G (n.*1976C>G) c.1560C>G (p.His520Gln) c.*2381C>G (n.*2381C>G) c.2142C>G (p.His714Gln) c.3246C>G (p.His1082Gln) c.2922C>G (p.His974Gln) c.1815C>G (p.His605Gln) c.1809C>G (p.His603Gln) c.1668C>G (p.His556Gln) c.1662C>G (p.His554Gln) | |
19 | g.8584998G>T | CA403748272 | ADAMTS10 | c.3099C>A (p.His1033Gln) c.*1976C>A (n.*1976C>A) c.1560C>A (p.His520Gln) c.*2381C>A (n.*2381C>A) c.2142C>A (p.His714Gln) c.3246C>A (p.His1082Gln) c.2922C>A (p.His974Gln) c.1815C>A (p.His605Gln) c.1809C>A (p.His603Gln) c.1668C>A (p.His556Gln) c.1662C>A (p.His554Gln) | gnomAD v4 |
19 | g.8584999T>A | CA403748273 | ADAMTS10 | c.3098A>T (p.His1033Leu) c.*1975A>T (n.*1975A>T) c.1559A>T (p.His520Leu) c.*2380A>T (n.*2380A>T) c.2141A>T (p.His714Leu) c.3245A>T (p.His1082Leu) c.2921A>T (p.His974Leu) c.1814A>T (p.His605Leu) c.1808A>T (p.His603Leu) c.1667A>T (p.His556Leu) c.1661A>T (p.His554Leu) | |
19 | g.8584999T>C | CA403748275 | ADAMTS10 | c.3098A>G (p.His1033Arg) c.*1975A>G (n.*1975A>G) c.1559A>G (p.His520Arg) c.*2380A>G (n.*2380A>G) c.2141A>G (p.His714Arg) c.3245A>G (p.His1082Arg) c.2921A>G (p.His974Arg) c.1814A>G (p.His605Arg) c.1808A>G (p.His603Arg) c.1667A>G (p.His556Arg) c.1661A>G (p.His554Arg) | gnomAD v4 |
19 | g.8584999T>G | CA403748274 | ADAMTS10 | c.3098A>C (p.His1033Pro) c.*1975A>C (n.*1975A>C) c.1559A>C (p.His520Pro) c.*2380A>C (n.*2380A>C) c.2141A>C (p.His714Pro) c.3245A>C (p.His1082Pro) c.2921A>C (p.His974Pro) c.1814A>C (p.His605Pro) c.1808A>C (p.His603Pro) c.1667A>C (p.His556Pro) c.1661A>C (p.His554Pro) | |
19 | g.8585000G>A | CA403748276 | ADAMTS10 | c.3097C>T (p.His1033Tyr) c.*1974C>T (n.*1974C>T) c.1558C>T (p.His520Tyr) c.*2379C>T (n.*2379C>T) c.2140C>T (p.His714Tyr) c.3244C>T (p.His1082Tyr) c.2920C>T (p.His974Tyr) c.1813C>T (p.His605Tyr) c.1807C>T (p.His603Tyr) c.1666C>T (p.His556Tyr) c.1660C>T (p.His554Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8585000G>C | CA403748277 | ADAMTS10 | c.3097C>G (p.His1033Asp) c.*1974C>G (n.*1974C>G) c.1558C>G (p.His520Asp) c.*2379C>G (n.*2379C>G) c.2140C>G (p.His714Asp) c.3244C>G (p.His1082Asp) c.2920C>G (p.His974Asp) c.1813C>G (p.His605Asp) c.1807C>G (p.His603Asp) c.1666C>G (p.His556Asp) c.1660C>G (p.His554Asp) | |
19 | g.8585000G= | CA2321496570 | ADAMTS10 | c.3097C= (p.His1033=) c.*1974C= (n.*1974C=) c.1558C= (p.His520=) c.*2379C= (n.*2379C=) c.2140C= (p.His714=) c.3244C= (p.His1082=) c.2920C= (p.His974=) c.1813C= (p.His605=) c.1807C= (p.His603=) c.1666C= (p.His556=) c.1660C= (p.His554=) | |
19 | g.8585000G>T | CA403748278 | ADAMTS10 | c.3097C>A (p.His1033Asn) c.*1974C>A (n.*1974C>A) c.1558C>A (p.His520Asn) c.*2379C>A (n.*2379C>A) c.2140C>A (p.His714Asn) c.3244C>A (p.His1082Asn) c.2920C>A (p.His974Asn) c.1813C>A (p.His605Asn) c.1807C>A (p.His603Asn) c.1666C>A (p.His556Asn) c.1660C>A (p.His554Asn) | gnomAD v4 |
19 | g.8585001G>A | CA505266708 | ADAMTS10 | c.3096C>T (p.Ser1032=) c.*1973C>T (n.*1973C>T) c.1557C>T (p.Ser519=) c.*2378C>T (n.*2378C>T) c.2139C>T (p.Ser713=) c.3243C>T (p.Ser1081=) c.2919C>T (p.Ser973=) c.1812C>T (p.Ser604=) c.1806C>T (p.Ser602=) c.1665C>T (p.Ser555=) c.1659C>T (p.Ser553=) | gnomAD v4 |
19 | g.8585001G>C | CA403748279 | ADAMTS10 | c.3096C>G (p.Ser1032Arg) c.*1973C>G (n.*1973C>G) c.1557C>G (p.Ser519Arg) c.*2378C>G (n.*2378C>G) c.2139C>G (p.Ser713Arg) c.3243C>G (p.Ser1081Arg) c.2919C>G (p.Ser973Arg) c.1812C>G (p.Ser604Arg) c.1806C>G (p.Ser602Arg) c.1665C>G (p.Ser555Arg) c.1659C>G (p.Ser553Arg) | |
19 | g.8585001G>T | CA403748280 | ADAMTS10 | c.3096C>A (p.Ser1032Arg) c.*1973C>A (n.*1973C>A) c.1557C>A (p.Ser519Arg) c.*2378C>A (n.*2378C>A) c.2139C>A (p.Ser713Arg) c.3243C>A (p.Ser1081Arg) c.2919C>A (p.Ser973Arg) c.1812C>A (p.Ser604Arg) c.1806C>A (p.Ser602Arg) c.1665C>A (p.Ser555Arg) c.1659C>A (p.Ser553Arg) | gnomAD v4 |
19 | g.8585002C>A | CA403748281 | ADAMTS10 | c.3095G>T (p.Ser1032Ile) c.*1972G>T (n.*1972G>T) c.1556G>T (p.Ser519Ile) c.*2377G>T (n.*2377G>T) c.2138G>T (p.Ser713Ile) c.3242G>T (p.Ser1081Ile) c.2918G>T (p.Ser973Ile) c.1811G>T (p.Ser604Ile) c.1805G>T (p.Ser602Ile) c.1664G>T (p.Ser555Ile) c.1658G>T (p.Ser553Ile) | gnomAD v4 |
19 | g.8585002C>G | CA403748282 | ADAMTS10 | c.3095G>C (p.Ser1032Thr) c.*1972G>C (n.*1972G>C) c.1556G>C (p.Ser519Thr) c.*2377G>C (n.*2377G>C) c.2138G>C (p.Ser713Thr) c.3242G>C (p.Ser1081Thr) c.2918G>C (p.Ser973Thr) c.1811G>C (p.Ser604Thr) c.1805G>C (p.Ser602Thr) c.1664G>C (p.Ser555Thr) c.1658G>C (p.Ser553Thr) | |
19 | g.8585002C>T | CA403748283 | ADAMTS10 | c.3095G>A (p.Ser1032Asn) c.*1972G>A (n.*1972G>A) c.1556G>A (p.Ser519Asn) c.*2377G>A (n.*2377G>A) c.2138G>A (p.Ser713Asn) c.3242G>A (p.Ser1081Asn) c.2918G>A (p.Ser973Asn) c.1811G>A (p.Ser604Asn) c.1805G>A (p.Ser602Asn) c.1664G>A (p.Ser555Asn) c.1658G>A (p.Ser553Asn) | gnomAD v4 |
19 | g.8585003T>A | CA403748284 | ADAMTS10 | c.3094A>T (p.Ser1032Cys) c.*1971A>T (n.*1971A>T) c.1555A>T (p.Ser519Cys) c.*2376A>T (n.*2376A>T) c.2137A>T (p.Ser713Cys) c.3241A>T (p.Ser1081Cys) c.2917A>T (p.Ser973Cys) c.1810A>T (p.Ser604Cys) c.1804A>T (p.Ser602Cys) c.1663A>T (p.Ser555Cys) c.1657A>T (p.Ser553Cys) | |
19 | g.8585003T>C | CA403748285 | ADAMTS10 | c.3094A>G (p.Ser1032Gly) c.*1971A>G (n.*1971A>G) c.1555A>G (p.Ser519Gly) c.*2376A>G (n.*2376A>G) c.2137A>G (p.Ser713Gly) c.3241A>G (p.Ser1081Gly) c.2917A>G (p.Ser973Gly) c.1810A>G (p.Ser604Gly) c.1804A>G (p.Ser602Gly) c.1663A>G (p.Ser555Gly) c.1657A>G (p.Ser553Gly) | |
19 | g.8585003T>G | CA403748286 | ADAMTS10 | c.3094A>C (p.Ser1032Arg) c.*1971A>C (n.*1971A>C) c.1555A>C (p.Ser519Arg) c.*2376A>C (n.*2376A>C) c.2137A>C (p.Ser713Arg) c.3241A>C (p.Ser1081Arg) c.2917A>C (p.Ser973Arg) c.1810A>C (p.Ser604Arg) c.1804A>C (p.Ser602Arg) c.1663A>C (p.Ser555Arg) c.1657A>C (p.Ser553Arg) | |
19 | g.8585004G>A | CA505266712 | ADAMTS10 | c.3093C>T (p.Thr1031=) c.*1970C>T (n.*1970C>T) c.1554C>T (p.Thr518=) c.*2375C>T (n.*2375C>T) c.2136C>T (p.Thr712=) c.3240C>T (p.Thr1080=) c.2916C>T (p.Thr972=) c.1809C>T (p.Thr603=) c.1803C>T (p.Thr601=) c.1662C>T (p.Thr554=) c.1656C>T (p.Thr552=) | |
19 | g.8585004G>C | CA505266714 | ADAMTS10 | c.3093C>G (p.Thr1031=) c.*1970C>G (n.*1970C>G) c.1554C>G (p.Thr518=) c.*2375C>G (n.*2375C>G) c.2136C>G (p.Thr712=) c.3240C>G (p.Thr1080=) c.2916C>G (p.Thr972=) c.1809C>G (p.Thr603=) c.1803C>G (p.Thr601=) c.1662C>G (p.Thr554=) c.1656C>G (p.Thr552=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8585004G= | CA2321496571 | ADAMTS10 | c.3093C= (p.Thr1031=) c.*1970C= (n.*1970C=) c.1554C= (p.Thr518=) c.*2375C= (n.*2375C=) c.2136C= (p.Thr712=) c.3240C= (p.Thr1080=) c.2916C= (p.Thr972=) c.1809C= (p.Thr603=) c.1803C= (p.Thr601=) c.1662C= (p.Thr554=) c.1656C= (p.Thr552=) | |
19 | g.8585004G>T | CA505266715 | ADAMTS10 | c.3093C>A (p.Thr1031=) c.*1970C>A (n.*1970C>A) c.1554C>A (p.Thr518=) c.*2375C>A (n.*2375C>A) c.2136C>A (p.Thr712=) c.3240C>A (p.Thr1080=) c.2916C>A (p.Thr972=) c.1809C>A (p.Thr603=) c.1803C>A (p.Thr601=) c.1662C>A (p.Thr554=) c.1656C>A (p.Thr552=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8585005G>A | CA403748289 | ADAMTS10 | c.3092C>T (p.Thr1031Ile) c.*1969C>T (n.*1969C>T) c.1553C>T (p.Thr518Ile) c.*2374C>T (n.*2374C>T) c.2135C>T (p.Thr712Ile) c.3239C>T (p.Thr1080Ile) c.2915C>T (p.Thr972Ile) c.1808C>T (p.Thr603Ile) c.1802C>T (p.Thr601Ile) c.1661C>T (p.Thr554Ile) c.1655C>T (p.Thr552Ile) | dbSNP gnomAD v2 |
19 | g.8585005G>C | CA403748288 | ADAMTS10 | c.3092C>G (p.Thr1031Ser) c.*1969C>G (n.*1969C>G) c.1553C>G (p.Thr518Ser) c.*2374C>G (n.*2374C>G) c.2135C>G (p.Thr712Ser) c.3239C>G (p.Thr1080Ser) c.2915C>G (p.Thr972Ser) c.1808C>G (p.Thr603Ser) c.1802C>G (p.Thr601Ser) c.1661C>G (p.Thr554Ser) c.1655C>G (p.Thr552Ser) | |
19 | g.8585005G= | CA2321496572 | ADAMTS10 | c.3092C= (p.Thr1031=) c.*1969C= (n.*1969C=) c.1553C= (p.Thr518=) c.*2374C= (n.*2374C=) c.2135C= (p.Thr712=) c.3239C= (p.Thr1080=) c.2915C= (p.Thr972=) c.1808C= (p.Thr603=) c.1802C= (p.Thr601=) c.1661C= (p.Thr554=) c.1655C= (p.Thr552=) | |
19 | g.8585005G>T | CA403748287 | ADAMTS10 | c.3092C>A (p.Thr1031Asn) c.*1969C>A (n.*1969C>A) c.1553C>A (p.Thr518Asn) c.*2374C>A (n.*2374C>A) c.2135C>A (p.Thr712Asn) c.3239C>A (p.Thr1080Asn) c.2915C>A (p.Thr972Asn) c.1808C>A (p.Thr603Asn) c.1802C>A (p.Thr601Asn) c.1661C>A (p.Thr554Asn) c.1655C>A (p.Thr552Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8585006T>A | CA403748290 | ADAMTS10 | c.3091A>T (p.Thr1031Ser) c.*1968A>T (n.*1968A>T) c.1552A>T (p.Thr518Ser) c.*2373A>T (n.*2373A>T) c.2134A>T (p.Thr712Ser) c.3238A>T (p.Thr1080Ser) c.2914A>T (p.Thr972Ser) c.1807A>T (p.Thr603Ser) c.1801A>T (p.Thr601Ser) c.1660A>T (p.Thr554Ser) c.1654A>T (p.Thr552Ser) | |
19 | g.8585006T>C | CA403748291 | ADAMTS10 | c.3091A>G (p.Thr1031Ala) c.*1968A>G (n.*1968A>G) c.1552A>G (p.Thr518Ala) c.*2373A>G (n.*2373A>G) c.2134A>G (p.Thr712Ala) c.3238A>G (p.Thr1080Ala) c.2914A>G (p.Thr972Ala) c.1807A>G (p.Thr603Ala) c.1801A>G (p.Thr601Ala) c.1660A>G (p.Thr554Ala) c.1654A>G (p.Thr552Ala) | |
19 | g.8585006T>G | CA9159974 | ADAMTS10 | c.3091A>C (p.Thr1031Pro) c.*1968A>C (n.*1968A>C) c.1552A>C (p.Thr518Pro) c.*2373A>C (n.*2373A>C) c.2134A>C (p.Thr712Pro) c.3238A>C (p.Thr1080Pro) c.2914A>C (p.Thr972Pro) c.1807A>C (p.Thr603Pro) c.1801A>C (p.Thr601Pro) c.1660A>C (p.Thr554Pro) c.1654A>C (p.Thr552Pro) | dbSNP ExAC gnomAD v4 |
19 | g.8585006T= | CA2321496573 | ADAMTS10 | c.3091A= (p.Thr1031=) c.*1968A= (n.*1968A=) c.1552A= (p.Thr518=) c.*2373A= (n.*2373A=) c.2134A= (p.Thr712=) c.3238A= (p.Thr1080=) c.2914A= (p.Thr972=) c.1807A= (p.Thr603=) c.1801A= (p.Thr601=) c.1660A= (p.Thr554=) c.1654A= (p.Thr552=) | |
19 | g.8585007G>A | CA505266717 | ADAMTS10 | c.3090C>T (p.Cys1030=) c.*1967C>T (n.*1967C>T) c.1551C>T (p.Cys517=) c.*2372C>T (n.*2372C>T) c.2133C>T (p.Cys711=) c.3237C>T (p.Cys1079=) c.2913C>T (p.Cys971=) c.1806C>T (p.Cys602=) c.1800C>T (p.Cys600=) c.1659C>T (p.Cys553=) c.1653C>T (p.Cys551=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8585007G>C | CA403748292 | ADAMTS10 | c.3090C>G (p.Cys1030Trp) c.*1967C>G (n.*1967C>G) c.1551C>G (p.Cys517Trp) c.*2372C>G (n.*2372C>G) c.2133C>G (p.Cys711Trp) c.3237C>G (p.Cys1079Trp) c.2913C>G (p.Cys971Trp) c.1806C>G (p.Cys602Trp) c.1800C>G (p.Cys600Trp) c.1659C>G (p.Cys553Trp) c.1653C>G (p.Cys551Trp) | |
19 | g.8585007G= | CA2321496574 | ADAMTS10 | c.3090C= (p.Cys1030=) c.*1967C= (n.*1967C=) c.1551C= (p.Cys517=) c.*2372C= (n.*2372C=) c.2133C= (p.Cys711=) c.3237C= (p.Cys1079=) c.2913C= (p.Cys971=) c.1806C= (p.Cys602=) c.1800C= (p.Cys600=) c.1659C= (p.Cys553=) c.1653C= (p.Cys551=) | |
19 | g.8585007G>T | CA403748293 | ADAMTS10 | c.3090C>A (p.Cys1030Ter) c.*1967C>A (n.*1967C>A) c.1551C>A (p.Cys517Ter) c.*2372C>A (n.*2372C>A) c.2133C>A (p.Cys711Ter) c.3237C>A (p.Cys1079Ter) c.2913C>A (p.Cys971Ter) c.1806C>A (p.Cys602Ter) c.1800C>A (p.Cys600Ter) c.1659C>A (p.Cys553Ter) c.1653C>A (p.Cys551Ter) |