WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8584904C>A | CA403748067 | ADAMTS10 | c.3193G>T (p.Gly1065Cys) c.*2070G>T (n.*2070G>T) c.1654G>T (p.Gly552Cys) c.2236G>T (p.Gly746Cys) c.3340G>T (p.Gly1114Cys) c.3016G>T (p.Gly1006Cys) c.1909G>T (p.Gly637Cys) c.1903G>T (p.Gly635Cys) c.1762G>T (p.Gly588Cys) c.1756G>T (p.Gly586Cys) | gnomAD v4 |
| 19 | g.8584904C= | CA2321496524 | ADAMTS10 | c.3193G= (p.Gly1065=) c.*2070G= (n.*2070G=) c.1654G= (p.Gly552=) c.2236G= (p.Gly746=) c.3340G= (p.Gly1114=) c.3016G= (p.Gly1006=) c.1909G= (p.Gly637=) c.1903G= (p.Gly635=) c.1762G= (p.Gly588=) c.1756G= (p.Gly586=) | |
| 19 | g.8584904C>G | CA403748068 | ADAMTS10 | c.3193G>C (p.Gly1065Arg) c.*2070G>C (n.*2070G>C) c.1654G>C (p.Gly552Arg) c.2236G>C (p.Gly746Arg) c.3340G>C (p.Gly1114Arg) c.3016G>C (p.Gly1006Arg) c.1909G>C (p.Gly637Arg) c.1903G>C (p.Gly635Arg) c.1762G>C (p.Gly588Arg) c.1756G>C (p.Gly586Arg) | dbSNP gnomAD v4 |
| 19 | g.8584904C>T | CA9159967 | ADAMTS10 | c.3193G>A (p.Gly1065Ser) c.*2070G>A (n.*2070G>A) c.1654G>A (p.Gly552Ser) c.2236G>A (p.Gly746Ser) c.3340G>A (p.Gly1114Ser) c.3016G>A (p.Gly1006Ser) c.1909G>A (p.Gly637Ser) c.1903G>A (p.Gly635Ser) c.1762G>A (p.Gly588Ser) c.1756G>A (p.Gly586Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.8584905G>A | CA505266475 | ADAMTS10 | c.3192C>T (p.Asp1064=) c.*2069C>T (n.*2069C>T) c.1653C>T (p.Asp551=) c.2235C>T (p.Asp745=) c.3339C>T (p.Asp1113=) c.3015C>T (p.Asp1005=) c.1908C>T (p.Asp636=) c.1902C>T (p.Asp634=) c.1761C>T (p.Asp587=) c.1755C>T (p.Asp585=) | gnomAD v4 |
| 19 | g.8584905G>C | CA403748069 | ADAMTS10 | c.3192C>G (p.Asp1064Glu) c.*2069C>G (n.*2069C>G) c.1653C>G (p.Asp551Glu) c.2235C>G (p.Asp745Glu) c.3339C>G (p.Asp1113Glu) c.3015C>G (p.Asp1005Glu) c.1908C>G (p.Asp636Glu) c.1902C>G (p.Asp634Glu) c.1761C>G (p.Asp587Glu) c.1755C>G (p.Asp585Glu) | gnomAD v4 |
| 19 | g.8584905G>T | CA403748070 | ADAMTS10 | c.3192C>A (p.Asp1064Glu) c.*2069C>A (n.*2069C>A) c.1653C>A (p.Asp551Glu) c.2235C>A (p.Asp745Glu) c.3339C>A (p.Asp1113Glu) c.3015C>A (p.Asp1005Glu) c.1908C>A (p.Asp636Glu) c.1902C>A (p.Asp634Glu) c.1761C>A (p.Asp587Glu) c.1755C>A (p.Asp585Glu) | gnomAD v4 |
| 19 | g.8584906T>A | CA403748071 | ADAMTS10 | c.3191A>T (p.Asp1064Val) c.*2068A>T (n.*2068A>T) c.1652A>T (p.Asp551Val) c.2234A>T (p.Asp745Val) c.3338A>T (p.Asp1113Val) c.3014A>T (p.Asp1005Val) c.1907A>T (p.Asp636Val) c.1901A>T (p.Asp634Val) c.1760A>T (p.Asp587Val) c.1754A>T (p.Asp585Val) | |
| 19 | g.8584906T>C | CA403748072 | ADAMTS10 | c.3191A>G (p.Asp1064Gly) c.*2068A>G (n.*2068A>G) c.1652A>G (p.Asp551Gly) c.2234A>G (p.Asp745Gly) c.3338A>G (p.Asp1113Gly) c.3014A>G (p.Asp1005Gly) c.1907A>G (p.Asp636Gly) c.1901A>G (p.Asp634Gly) c.1760A>G (p.Asp587Gly) c.1754A>G (p.Asp585Gly) | gnomAD v4 |
| 19 | g.8584906T>G | CA403748073 | ADAMTS10 | c.3191A>C (p.Asp1064Ala) c.*2068A>C (n.*2068A>C) c.1652A>C (p.Asp551Ala) c.2234A>C (p.Asp745Ala) c.3338A>C (p.Asp1113Ala) c.3014A>C (p.Asp1005Ala) c.1907A>C (p.Asp636Ala) c.1901A>C (p.Asp634Ala) c.1760A>C (p.Asp587Ala) c.1754A>C (p.Asp585Ala) | |
| 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.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) |