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 |
|---|---|---|---|---|---|
| 12 | g.40351579C>A | CA384406602 | LRRK2 | c.6422C>A (p.Thr2141Lys) c.219C>A c.*5331C>A (n.*5331C>A) c.2196C>A c.212C>A c.1867C>A (n.1867C>A) c.2067C>A c.1589C>A (n.1589C>A) c.1879C>A c.6167C>A (p.Thr2056Lys) n.2406C>A c.2105C>A (p.Thr702Lys) c.3718C>A n.3103C>A c.5219C>A (p.Thr1740Lys) c.3338C>A (p.Thr1113Lys) c.2684C>A (p.Thr895Lys) | gnomAD v4 |
| 12 | g.40351579C= | CA2031000143 | LRRK2 | c.6422C= (p.Thr2141=) c.219C= c.*5331C= (n.*5331C=) c.2196C= c.212C= c.1867C= (n.1867C=) c.2067C= c.1589C= (n.1589C=) c.1879C= c.6167C= (p.Thr2056=) n.2406C= c.2105C= (p.Thr702=) c.3718C= n.3103C= c.5219C= (p.Thr1740=) c.3338C= (p.Thr1113=) c.2684C= (p.Thr895=) | |
| 12 | g.40351579C>G | CA384406604 | LRRK2 | c.6422C>G (p.Thr2141Arg) c.219C>G c.*5331C>G (n.*5331C>G) c.2196C>G c.212C>G c.1867C>G (n.1867C>G) c.2067C>G c.1589C>G (n.1589C>G) c.1879C>G c.6167C>G (p.Thr2056Arg) n.2406C>G c.2105C>G (p.Thr702Arg) c.3718C>G n.3103C>G c.5219C>G (p.Thr1740Arg) c.3338C>G (p.Thr1113Arg) c.2684C>G (p.Thr895Arg) | ClinVar |
| 12 | g.40351579C>T | CA343661 | LRRK2 | c.6422C>T (p.Thr2141Met) c.219C>T c.*5331C>T (n.*5331C>T) c.2196C>T c.212C>T c.1867C>T (n.1867C>T) c.2067C>T c.1589C>T (n.1589C>T) c.1879C>T c.6167C>T (p.Thr2056Met) n.2406C>T c.2105C>T (p.Thr702Met) c.3718C>T n.3103C>T c.5219C>T (p.Thr1740Met) c.3338C>T (p.Thr1113Met) c.2684C>T (p.Thr895Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40351580G>A | CA6514686 | LRRK2 | c.6423G>A (p.Thr2141=) c.220G>A c.*5332G>A (n.*5332G>A) c.2197G>A c.213G>A c.1868G>A (n.1868G>A) c.2068G>A c.1590G>A (n.1590G>A) c.1880G>A c.6168G>A (p.Thr2056=) n.2407G>A c.2106G>A (p.Thr702=) c.3719G>A n.3104G>A c.5220G>A (p.Thr1740=) c.3339G>A (p.Thr1113=) c.2685G>A (p.Thr895=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40351580G>C | CA479241083 | LRRK2 | c.6423G>C (p.Thr2141=) c.220G>C c.*5332G>C (n.*5332G>C) c.2197G>C c.213G>C c.1868G>C (n.1868G>C) c.2068G>C c.1590G>C (n.1590G>C) c.1880G>C c.6168G>C (p.Thr2056=) n.2407G>C c.2106G>C (p.Thr702=) c.3719G>C n.3104G>C c.5220G>C (p.Thr1740=) c.3339G>C (p.Thr1113=) c.2685G>C (p.Thr895=) | |
| 12 | g.40351580G= | CA2031000167 | LRRK2 | c.6423G= (p.Thr2141=) c.220G= c.*5332G= (n.*5332G=) c.2197G= c.213G= c.1868G= (n.1868G=) c.2068G= c.1590G= (n.1590G=) c.1880G= c.6168G= (p.Thr2056=) n.2407G= c.2106G= (p.Thr702=) c.3719G= n.3104G= c.5220G= (p.Thr1740=) c.3339G= (p.Thr1113=) c.2685G= (p.Thr895=) | |
| 12 | g.40351580G>T | CA479241085 | LRRK2 | c.6423G>T (p.Thr2141=) c.220G>T c.*5332G>T (n.*5332G>T) c.2197G>T c.213G>T c.1868G>T (n.1868G>T) c.2068G>T c.1590G>T (n.1590G>T) c.1880G>T c.6168G>T (p.Thr2056=) n.2407G>T c.2106G>T (p.Thr702=) c.3719G>T n.3104G>T c.5220G>T (p.Thr1740=) c.3339G>T (p.Thr1113=) c.2685G>T (p.Thr895=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40351581A= | CA2031000174 | LRRK2 | c.6424A= (p.Arg2142=) c.221A= c.*5333A= (n.*5333A=) c.2198A= c.214A= c.1869A= (n.1869A=) c.2069A= c.1591A= (n.1591A=) c.1881A= c.6169A= (p.Arg2057=) n.2408A= c.2107A= (p.Arg703=) c.3720A= n.3105A= c.5221A= (p.Arg1741=) c.3340A= (p.Arg1114=) c.2686A= (p.Arg896=) | |
| 12 | g.40351581A>C | CA479241088 | LRRK2 | c.6424A>C (p.Arg2142=) c.221A>C c.*5333A>C (n.*5333A>C) c.2198A>C c.214A>C c.1869A>C (n.1869A>C) c.2069A>C c.1591A>C (n.1591A>C) c.1881A>C c.6169A>C (p.Arg2057=) n.2408A>C c.2107A>C (p.Arg703=) c.3720A>C n.3105A>C c.5221A>C (p.Arg1741=) c.3340A>C (p.Arg1114=) c.2686A>C (p.Arg896=) | ClinVar |
| 12 | g.40351581A>G | CA235343542 | LRRK2 | c.6424A>G (p.Arg2142Gly) c.221A>G c.*5333A>G (n.*5333A>G) c.2198A>G c.214A>G c.1869A>G (n.1869A>G) c.2069A>G c.1591A>G (n.1591A>G) c.1881A>G c.6169A>G (p.Arg2057Gly) n.2408A>G c.2107A>G (p.Arg703Gly) c.3720A>G n.3105A>G c.5221A>G (p.Arg1741Gly) c.3340A>G (p.Arg1114Gly) c.2686A>G (p.Arg896Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40351581A>T | CA384406609 | LRRK2 | c.6424A>T (p.Arg2142Ter) c.221A>T c.*5333A>T (n.*5333A>T) c.2198A>T c.214A>T c.1869A>T (n.1869A>T) c.2069A>T c.1591A>T (n.1591A>T) c.1881A>T c.6169A>T (p.Arg2057Ter) n.2408A>T c.2107A>T (p.Arg703Ter) c.3720A>T n.3105A>T c.5221A>T (p.Arg1741Ter) c.3340A>T (p.Arg1114Ter) c.2686A>T (p.Arg896Ter) | |
| 12 | g.40351582G>A | CA6514687 | LRRK2 | c.6425G>A (p.Arg2142Lys) c.222G>A c.*5334G>A (n.*5334G>A) c.2199G>A c.215G>A c.1870G>A (n.1870G>A) c.2070G>A c.1592G>A (n.1592G>A) c.1882G>A c.6170G>A (p.Arg2057Lys) n.2409G>A c.2108G>A (p.Arg703Lys) c.3721G>A n.3106G>A c.5222G>A (p.Arg1741Lys) c.3341G>A (p.Arg1114Lys) c.2687G>A (p.Arg896Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40351582G>C | CA384406614 | LRRK2 | c.6425G>C (p.Arg2142Thr) c.222G>C c.*5334G>C (n.*5334G>C) c.2199G>C c.215G>C c.1870G>C (n.1870G>C) c.2070G>C c.1592G>C (n.1592G>C) c.1882G>C c.6170G>C (p.Arg2057Thr) n.2409G>C c.2108G>C (p.Arg703Thr) c.3721G>C n.3106G>C c.5222G>C (p.Arg1741Thr) c.3341G>C (p.Arg1114Thr) c.2687G>C (p.Arg896Thr) | |
| 12 | g.40351582G= | CA2031000180 | LRRK2 | c.6425G= (p.Arg2142=) c.222G= c.*5334G= (n.*5334G=) c.2199G= c.215G= c.1870G= (n.1870G=) c.2070G= c.1592G= (n.1592G=) c.1882G= c.6170G= (p.Arg2057=) n.2409G= c.2108G= (p.Arg703=) c.3721G= n.3106G= c.5222G= (p.Arg1741=) c.3341G= (p.Arg1114=) c.2687G= (p.Arg896=) | |
| 12 | g.40351582G>T | CA384406611 | LRRK2 | c.6425G>T (p.Arg2142Ile) c.222G>T c.*5334G>T (n.*5334G>T) c.2199G>T c.215G>T c.1870G>T (n.1870G>T) c.2070G>T c.1592G>T (n.1592G>T) c.1882G>T c.6170G>T (p.Arg2057Ile) n.2409G>T c.2108G>T (p.Arg703Ile) c.3721G>T n.3106G>T c.5222G>T (p.Arg1741Ile) c.3341G>T (p.Arg1114Ile) c.2687G>T (p.Arg896Ile) | |
| 12 | g.40351583A= | CA2031000190 | LRRK2 | c.6426A= (p.Arg2142=) c.223A= c.*5335A= (n.*5335A=) c.2200A= c.216A= c.1871A= (n.1871A=) c.2071A= c.1593A= (n.1593A=) c.1883A= c.6171A= (p.Arg2057=) n.2410A= c.2109A= (p.Arg703=) c.3722A= n.3107A= c.5223A= (p.Arg1741=) c.3342A= (p.Arg1114=) c.2688A= (p.Arg896=) | |
| 12 | g.40351583A>C | CA384406618 | LRRK2 | c.6426A>C (p.Arg2142Ser) c.223A>C c.*5335A>C (n.*5335A>C) c.2200A>C c.216A>C c.1871A>C (n.1871A>C) c.2071A>C c.1593A>C (n.1593A>C) c.1883A>C c.6171A>C (p.Arg2057Ser) n.2410A>C c.2109A>C (p.Arg703Ser) c.3722A>C n.3107A>C c.5223A>C (p.Arg1741Ser) c.3342A>C (p.Arg1114Ser) c.2688A>C (p.Arg896Ser) | |
| 12 | g.40351583A>G | CA479241103 | LRRK2 | c.6426A>G (p.Arg2142=) c.223A>G c.*5335A>G (n.*5335A>G) c.2200A>G c.216A>G c.1871A>G (n.1871A>G) c.2071A>G c.1593A>G (n.1593A>G) c.1883A>G c.6171A>G (p.Arg2057=) n.2410A>G c.2109A>G (p.Arg703=) c.3722A>G n.3107A>G c.5223A>G (p.Arg1741=) c.3342A>G (p.Arg1114=) c.2688A>G (p.Arg896=) | gnomAD v4 |
| 12 | g.40351583A>T | CA384406617 | LRRK2 | c.6426A>T (p.Arg2142Ser) c.223A>T c.*5335A>T (n.*5335A>T) c.2200A>T c.216A>T c.1871A>T (n.1871A>T) c.2071A>T c.1593A>T (n.1593A>T) c.1883A>T c.6171A>T (p.Arg2057Ser) n.2410A>T c.2109A>T (p.Arg703Ser) c.3722A>T n.3107A>T c.5223A>T (p.Arg1741Ser) c.3342A>T (p.Arg1114Ser) c.2688A>T (p.Arg896Ser) | dbSNP |
| 12 | g.40351584C>A | CA384406620 | LRRK2 | c.6427C>A (p.Arg2143Ser) c.224C>A c.*5336C>A (n.*5336C>A) c.2201C>A c.217C>A c.1872C>A (n.1872C>A) c.2072C>A c.1594C>A (n.1594C>A) c.1884C>A c.6172C>A (p.Arg2058Ser) n.2411C>A c.2110C>A (p.Arg704Ser) c.3723C>A n.3108C>A c.5224C>A (p.Arg1742Ser) c.3343C>A (p.Arg1115Ser) c.2689C>A (p.Arg897Ser) | gnomAD v4 |
| 12 | g.40351584C= | CA2031000206 | LRRK2 | c.6427C= (p.Arg2143=) c.224C= c.*5336C= (n.*5336C=) c.2201C= c.217C= c.1872C= (n.1872C=) c.2072C= c.1594C= (n.1594C=) c.1884C= c.6172C= (p.Arg2058=) n.2411C= c.2110C= (p.Arg704=) c.3723C= n.3108C= c.5224C= (p.Arg1742=) c.3343C= (p.Arg1115=) c.2689C= (p.Arg897=) | |
| 12 | g.40351584C>G | CA384406621 | LRRK2 | c.6427C>G (p.Arg2143Gly) c.224C>G c.*5336C>G (n.*5336C>G) c.2201C>G c.217C>G c.1872C>G (n.1872C>G) c.2072C>G c.1594C>G (n.1594C>G) c.1884C>G c.6172C>G (p.Arg2058Gly) n.2411C>G c.2110C>G (p.Arg704Gly) c.3723C>G n.3108C>G c.5224C>G (p.Arg1742Gly) c.3343C>G (p.Arg1115Gly) c.2689C>G (p.Arg897Gly) | |
| 12 | g.40351584C>T | CA6514688 | LRRK2 | c.6427C>T (p.Arg2143Cys) c.224C>T c.*5336C>T (n.*5336C>T) c.2201C>T c.217C>T c.1872C>T (n.1872C>T) c.2072C>T c.1594C>T (n.1594C>T) c.1884C>T c.6172C>T (p.Arg2058Cys) n.2411C>T c.2110C>T (p.Arg704Cys) c.3723C>T n.3108C>T c.5224C>T (p.Arg1742Cys) c.3343C>T (p.Arg1115Cys) c.2689C>T (p.Arg897Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40351585G>A | CA343663 | LRRK2 | c.6428G>A (p.Arg2143His) c.225G>A c.*5337G>A (n.*5337G>A) c.2202G>A c.218G>A c.1873G>A (n.1873G>A) c.2073G>A c.1595G>A (n.1595G>A) c.1885G>A c.6173G>A (p.Arg2058His) n.2412G>A c.2111G>A (p.Arg704His) c.3724G>A n.3109G>A c.5225G>A (p.Arg1742His) c.3344G>A (p.Arg1115His) c.2690G>A (p.Arg897His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40351585G>C | CA384406625 | LRRK2 | c.6428G>C (p.Arg2143Pro) c.225G>C c.*5337G>C (n.*5337G>C) c.2202G>C c.218G>C c.1873G>C (n.1873G>C) c.2073G>C c.1595G>C (n.1595G>C) c.1885G>C c.6173G>C (p.Arg2058Pro) n.2412G>C c.2111G>C (p.Arg704Pro) c.3724G>C n.3109G>C c.5225G>C (p.Arg1742Pro) c.3344G>C (p.Arg1115Pro) c.2690G>C (p.Arg897Pro) | |
| 12 | g.40351585G= | CA2031000224 | LRRK2 | c.6428G= (p.Arg2143=) c.225G= c.*5337G= (n.*5337G=) c.2202G= c.218G= c.1873G= (n.1873G=) c.2073G= c.1595G= (n.1595G=) c.1885G= c.6173G= (p.Arg2058=) n.2412G= c.2111G= (p.Arg704=) c.3724G= n.3109G= c.5225G= (p.Arg1742=) c.3344G= (p.Arg1115=) c.2690G= (p.Arg897=) | |
| 12 | g.40351585G>T | CA384406627 | LRRK2 | c.6428G>T (p.Arg2143Leu) c.225G>T c.*5337G>T (n.*5337G>T) c.2202G>T c.218G>T c.1873G>T (n.1873G>T) c.2073G>T c.1595G>T (n.1595G>T) c.1885G>T c.6173G>T (p.Arg2058Leu) n.2412G>T c.2111G>T (p.Arg704Leu) c.3724G>T n.3109G>T c.5225G>T (p.Arg1742Leu) c.3344G>T (p.Arg1115Leu) c.2690G>T (p.Arg897Leu) | gnomAD v4 |
| 12 | g.40351586C>A | CA235343567 | LRRK2 | c.6429C>A (p.Arg2143=) c.226C>A c.*5338C>A (n.*5338C>A) c.2203C>A c.219C>A c.1874C>A (n.1874C>A) c.2074C>A c.1596C>A (n.1596C>A) c.1886C>A c.6174C>A (p.Arg2058=) n.2413C>A c.2112C>A (p.Arg704=) c.3725C>A n.3110C>A c.5226C>A (p.Arg1742=) c.3345C>A (p.Arg1115=) c.2691C>A (p.Arg897=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40351586C= | CA2031000237 | LRRK2 | c.6429C= (p.Arg2143=) c.226C= c.*5338C= (n.*5338C=) c.2203C= c.219C= c.1874C= (n.1874C=) c.2074C= c.1596C= (n.1596C=) c.1886C= c.6174C= (p.Arg2058=) n.2413C= c.2112C= (p.Arg704=) c.3725C= n.3110C= c.5226C= (p.Arg1742=) c.3345C= (p.Arg1115=) c.2691C= (p.Arg897=) | |
| 12 | g.40351586C>G | CA479241120 | LRRK2 | c.6429C>G (p.Arg2143=) c.226C>G c.*5338C>G (n.*5338C>G) c.2203C>G c.219C>G c.1874C>G (n.1874C>G) c.2074C>G c.1596C>G (n.1596C>G) c.1886C>G c.6174C>G (p.Arg2058=) n.2413C>G c.2112C>G (p.Arg704=) c.3725C>G n.3110C>G c.5226C>G (p.Arg1742=) c.3345C>G (p.Arg1115=) c.2691C>G (p.Arg897=) | |
| 12 | g.40351586C>T | CA6514689 | LRRK2 | c.6429C>T (p.Arg2143=) c.226C>T c.*5338C>T (n.*5338C>T) c.2203C>T c.219C>T c.1874C>T (n.1874C>T) c.2074C>T c.1596C>T (n.1596C>T) c.1886C>T c.6174C>T (p.Arg2058=) n.2413C>T c.2112C>T (p.Arg704=) c.3725C>T n.3110C>T c.5226C>T (p.Arg1742=) c.3345C>T (p.Arg1115=) c.2691C>T (p.Arg897=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40351587A>C | CA384406631 | LRRK2 | c.6430A>C (p.Ile2144Leu) c.227A>C c.*5339A>C (n.*5339A>C) c.2204A>C c.220A>C c.1875A>C (n.1875A>C) c.2075A>C c.1597A>C (n.1597A>C) c.1887A>C c.6175A>C (p.Ile2059Leu) n.2414A>C c.2113A>C (p.Ile705Leu) c.3726A>C n.3111A>C c.5227A>C (p.Ile1743Leu) c.3346A>C (p.Ile1116Leu) c.2692A>C (p.Ile898Leu) | |
| 12 | g.40351587A>G | CA384406633 | LRRK2 | c.6430A>G (p.Ile2144Val) c.227A>G c.*5339A>G (n.*5339A>G) c.2204A>G c.220A>G c.1875A>G (n.1875A>G) c.2075A>G c.1597A>G (n.1597A>G) c.1887A>G c.6175A>G (p.Ile2059Val) n.2414A>G c.2113A>G (p.Ile705Val) c.3726A>G n.3111A>G c.5227A>G (p.Ile1743Val) c.3346A>G (p.Ile1116Val) c.2692A>G (p.Ile898Val) | gnomAD v4 |
| 12 | g.40351587A>T | CA384406635 | LRRK2 | c.6430A>T (p.Ile2144Phe) c.227A>T c.*5339A>T (n.*5339A>T) c.2204A>T c.220A>T c.1875A>T (n.1875A>T) c.2075A>T c.1597A>T (n.1597A>T) c.1887A>T c.6175A>T (p.Ile2059Phe) n.2414A>T c.2113A>T (p.Ile705Phe) c.3726A>T n.3111A>T c.5227A>T (p.Ile1743Phe) c.3346A>T (p.Ile1116Phe) c.2692A>T (p.Ile898Phe) | |
| 12 | g.40351588T>A | CA384406640 | LRRK2 | c.6431T>A (p.Ile2144Asn) c.228T>A c.*5340T>A (n.*5340T>A) c.2205T>A c.221T>A c.1876T>A (n.1876T>A) c.2076T>A c.1598T>A (n.1598T>A) c.1888T>A c.6176T>A (p.Ile2059Asn) n.2415T>A c.2114T>A (p.Ile705Asn) c.3727T>A n.3112T>A c.5228T>A (p.Ile1743Asn) c.3347T>A (p.Ile1116Asn) c.2693T>A (p.Ile898Asn) | |
| 12 | g.40351588T>C | CA384406642 | LRRK2 | c.6431T>C (p.Ile2144Thr) c.228T>C c.*5340T>C (n.*5340T>C) c.2205T>C c.221T>C c.1876T>C (n.1876T>C) c.2076T>C c.1598T>C (n.1598T>C) c.1888T>C c.6176T>C (p.Ile2059Thr) n.2415T>C c.2114T>C (p.Ile705Thr) c.3727T>C n.3112T>C c.5228T>C (p.Ile1743Thr) c.3347T>C (p.Ile1116Thr) c.2693T>C (p.Ile898Thr) | dbSNP |
| 12 | g.40351588T>G | CA384406638 | LRRK2 | c.6431T>G (p.Ile2144Ser) c.228T>G c.*5340T>G (n.*5340T>G) c.2205T>G c.221T>G c.1876T>G (n.1876T>G) c.2076T>G c.1598T>G (n.1598T>G) c.1888T>G c.6176T>G (p.Ile2059Ser) n.2415T>G c.2114T>G (p.Ile705Ser) c.3727T>G n.3112T>G c.5228T>G (p.Ile1743Ser) c.3347T>G (p.Ile1116Ser) c.2693T>G (p.Ile898Ser) | |
| 12 | g.40351589T>A | CA479241134 | LRRK2 | c.6432T>A (p.Ile2144=) c.229T>A c.*5341T>A (n.*5341T>A) c.2206T>A c.222T>A c.1877T>A (n.1877T>A) c.2077T>A c.1599T>A (n.1599T>A) c.1889T>A c.6177T>A (p.Ile2059=) n.2416T>A c.2115T>A (p.Ile705=) c.3728T>A n.3113T>A c.5229T>A (p.Ile1743=) c.3348T>A (p.Ile1116=) c.2694T>A (p.Ile898=) | |
| 12 | g.40351589T>C | CA479241136 | LRRK2 | c.6432T>C (p.Ile2144=) c.229T>C c.*5341T>C (n.*5341T>C) c.2206T>C c.222T>C c.1877T>C (n.1877T>C) c.2077T>C c.1599T>C (n.1599T>C) c.1889T>C c.6177T>C (p.Ile2059=) n.2416T>C c.2115T>C (p.Ile705=) c.3728T>C n.3113T>C c.5229T>C (p.Ile1743=) c.3348T>C (p.Ile1116=) c.2694T>C (p.Ile898=) | |
| 12 | g.40351589T>G | CA384406644 | LRRK2 | c.6432T>G (p.Ile2144Met) c.229T>G c.*5341T>G (n.*5341T>G) c.2206T>G c.222T>G c.1877T>G (n.1877T>G) c.2077T>G c.1599T>G (n.1599T>G) c.1889T>G c.6177T>G (p.Ile2059Met) n.2416T>G c.2115T>G (p.Ile705Met) c.3728T>G n.3113T>G c.5229T>G (p.Ile1743Met) c.3348T>G (p.Ile1116Met) c.2694T>G (p.Ile898Met) | |
| 12 | g.40351590T>A | CA384406646 | LRRK2 | c.6433T>A (p.Leu2145Ile) c.230T>A c.*5342T>A (n.*5342T>A) c.2207T>A c.223T>A c.1878T>A (n.1878T>A) c.2078T>A c.1600T>A (n.1600T>A) c.1890T>A c.6178T>A (p.Leu2060Ile) n.2417T>A c.2116T>A (p.Leu706Ile) c.3729T>A n.3114T>A c.5230T>A (p.Leu1744Ile) c.3349T>A (p.Leu1117Ile) c.2695T>A (p.Leu899Ile) | |
| 12 | g.40351590T>C | CA479241143 | LRRK2 | c.6433T>C (p.Leu2145=) c.230T>C c.*5342T>C (n.*5342T>C) c.2207T>C c.223T>C c.1878T>C (n.1878T>C) c.2078T>C c.1600T>C (n.1600T>C) c.1890T>C c.6178T>C (p.Leu2060=) n.2417T>C c.2116T>C (p.Leu706=) c.3729T>C n.3114T>C c.5230T>C (p.Leu1744=) c.3349T>C (p.Leu1117=) c.2695T>C (p.Leu899=) | COSMIC COSMIC |
| 12 | g.40351590T>G | CA384406648 | LRRK2 | c.6433T>G (p.Leu2145Val) c.230T>G c.*5342T>G (n.*5342T>G) c.2207T>G c.223T>G c.1878T>G (n.1878T>G) c.2078T>G c.1600T>G (n.1600T>G) c.1890T>G c.6178T>G (p.Leu2060Val) n.2417T>G c.2116T>G (p.Leu706Val) c.3729T>G n.3114T>G c.5230T>G (p.Leu1744Val) c.3349T>G (p.Leu1117Val) c.2695T>G (p.Leu899Val) | dbSNP gnomAD v2 |
| 12 | g.40351590T= | CA2031000252 | LRRK2 | c.6433T= (p.Leu2145=) c.230T= c.*5342T= (n.*5342T=) c.2207T= c.223T= c.1878T= (n.1878T=) c.2078T= c.1600T= (n.1600T=) c.1890T= c.6178T= (p.Leu2060=) n.2417T= c.2116T= (p.Leu706=) c.3729T= n.3114T= c.5230T= (p.Leu1744=) c.3349T= (p.Leu1117=) c.2695T= (p.Leu899=) | |
| 12 | g.40351591T>A | CA384406650 | LRRK2 | c.6434T>A (p.Leu2145Ter) c.231T>A c.*5343T>A (n.*5343T>A) c.2208T>A c.224T>A c.1879T>A (n.1879T>A) c.2079T>A c.1601T>A (n.1601T>A) c.1891T>A c.6179T>A (p.Leu2060Ter) n.2418T>A c.2117T>A (p.Leu706Ter) c.3730T>A n.3115T>A c.5231T>A (p.Leu1744Ter) c.3350T>A (p.Leu1117Ter) c.2696T>A (p.Leu899Ter) | |
| 12 | g.40351591T>C | CA384406652 | LRRK2 | c.6434T>C (p.Leu2145Ser) c.231T>C c.*5343T>C (n.*5343T>C) c.2208T>C c.224T>C c.1879T>C (n.1879T>C) c.2079T>C c.1601T>C (n.1601T>C) c.1891T>C c.6179T>C (p.Leu2060Ser) n.2418T>C c.2117T>C (p.Leu706Ser) c.3730T>C n.3115T>C c.5231T>C (p.Leu1744Ser) c.3350T>C (p.Leu1117Ser) c.2696T>C (p.Leu899Ser) | |
| 12 | g.40351591T>G | CA384406653 | LRRK2 | c.6434T>G (p.Leu2145Ter) c.231T>G c.*5343T>G (n.*5343T>G) c.2208T>G c.224T>G c.1879T>G (n.1879T>G) c.2079T>G c.1601T>G (n.1601T>G) c.1891T>G c.6179T>G (p.Leu2060Ter) n.2418T>G c.2117T>G (p.Leu706Ter) c.3730T>G n.3115T>G c.5231T>G (p.Leu1744Ter) c.3350T>G (p.Leu1117Ter) c.2696T>G (p.Leu899Ter) | |
| 12 | g.40351592A= | CA2031000265 | LRRK2 | c.6435A= (p.Leu2145=) c.232A= c.*5344A= (n.*5344A=) c.2209A= c.225A= c.1880A= (n.1880A=) c.2080A= c.1602A= (n.1602A=) c.1892A= c.6180A= (p.Leu2060=) n.2419A= c.2118A= (p.Leu706=) c.3731A= n.3116A= c.5232A= (p.Leu1744=) c.3351A= (p.Leu1117=) c.2697A= (p.Leu899=) | |
| 12 | g.40351592A>C | CA384406655 | LRRK2 | c.6435A>C (p.Leu2145Phe) c.232A>C c.*5344A>C (n.*5344A>C) c.2209A>C c.225A>C c.1880A>C (n.1880A>C) c.2080A>C c.1602A>C (n.1602A>C) c.1892A>C c.6180A>C (p.Leu2060Phe) n.2419A>C c.2118A>C (p.Leu706Phe) c.3731A>C n.3116A>C c.5232A>C (p.Leu1744Phe) c.3351A>C (p.Leu1117Phe) c.2697A>C (p.Leu899Phe) |