UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40323268A>C | CA384421180 | LRRK2 | c.5618A>C (p.Asp1873Ala) c.*4527A>C (n.*4527A>C) c.1392A>C c.1063A>C (n.1063A>C) c.1263A>C c.785A>C (n.785A>C) c.1075A>C c.5363A>C (p.Asp1788Ala) n.1602A>C c.1301A>C (p.Asp434Ala) c.2914A>C n.2299A>C c.4415A>C (p.Asp1472Ala) c.2534A>C (p.Asp845Ala) c.1880A>C (p.Asp627Ala) | |
| 12 | g.40323268A>G | CA384421182 | LRRK2 | c.5618A>G (p.Asp1873Gly) c.*4527A>G (n.*4527A>G) c.1392A>G c.1063A>G (n.1063A>G) c.1263A>G c.785A>G (n.785A>G) c.1075A>G c.5363A>G (p.Asp1788Gly) n.1602A>G c.1301A>G (p.Asp434Gly) c.2914A>G n.2299A>G c.4415A>G (p.Asp1472Gly) c.2534A>G (p.Asp845Gly) c.1880A>G (p.Asp627Gly) | |
| 12 | g.40323268A>T | CA384421181 | LRRK2 | c.5618A>T (p.Asp1873Val) c.*4527A>T (n.*4527A>T) c.1392A>T c.1063A>T (n.1063A>T) c.1263A>T c.785A>T (n.785A>T) c.1075A>T c.5363A>T (p.Asp1788Val) n.1602A>T c.1301A>T (p.Asp434Val) c.2914A>T n.2299A>T c.4415A>T (p.Asp1472Val) c.2534A>T (p.Asp845Val) c.1880A>T (p.Asp627Val) | |
| 12 | g.40323269T>A | CA384421183 | LRRK2 | c.5619T>A (p.Asp1873Glu) c.*4528T>A (n.*4528T>A) c.1393T>A c.1064T>A (n.1064T>A) c.1264T>A c.786T>A (n.786T>A) c.1076T>A c.5364T>A (p.Asp1788Glu) n.1603T>A c.1302T>A (p.Asp434Glu) c.2915T>A n.2300T>A c.4416T>A (p.Asp1472Glu) c.2535T>A (p.Asp845Glu) c.1881T>A (p.Asp627Glu) | |
| 12 | g.40323269T>C | CA479273596 | LRRK2 | c.5619T>C (p.Asp1873=) c.*4528T>C (n.*4528T>C) c.1393T>C c.1064T>C (n.1064T>C) c.1264T>C c.786T>C (n.786T>C) c.1076T>C c.5364T>C (p.Asp1788=) n.1603T>C c.1302T>C (p.Asp434=) c.2915T>C n.2300T>C c.4416T>C (p.Asp1472=) c.2535T>C (p.Asp845=) c.1881T>C (p.Asp627=) | |
| 12 | g.40323269T>G | CA384421184 | LRRK2 | c.5619T>G (p.Asp1873Glu) c.*4528T>G (n.*4528T>G) c.1393T>G c.1064T>G (n.1064T>G) c.1264T>G c.786T>G (n.786T>G) c.1076T>G c.5364T>G (p.Asp1788Glu) n.1603T>G c.1302T>G (p.Asp434Glu) c.2915T>G n.2300T>G c.4416T>G (p.Asp1472Glu) c.2535T>G (p.Asp845Glu) c.1881T>G (p.Asp627Glu) | |
| 12 | g.40323270G>A | CA6514490 | LRRK2 | c.5620G>A (p.Glu1874Lys) c.*4529G>A (n.*4529G>A) c.1394G>A c.1065G>A (n.1065G>A) c.1265G>A c.787G>A (n.787G>A) c.1077G>A c.5365G>A (p.Glu1789Lys) n.1604G>A c.1303G>A (p.Glu435Lys) c.2916G>A n.2301G>A c.4417G>A (p.Glu1473Lys) c.2536G>A (p.Glu846Lys) c.1882G>A (p.Glu628Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40323270G>C | CA384421185 | LRRK2 | c.5620G>C (p.Glu1874Gln) c.*4529G>C (n.*4529G>C) c.1394G>C c.1065G>C (n.1065G>C) c.1265G>C c.787G>C (n.787G>C) c.1077G>C c.5365G>C (p.Glu1789Gln) n.1604G>C c.1303G>C (p.Glu435Gln) c.2916G>C n.2301G>C c.4417G>C (p.Glu1473Gln) c.2536G>C (p.Glu846Gln) c.1882G>C (p.Glu628Gln) | |
| 12 | g.40323270G= | CA2031001384 | LRRK2 | c.5620G= (p.Glu1874=) c.*4529G= (n.*4529G=) c.1394G= c.1065G= (n.1065G=) c.1265G= c.787G= (n.787G=) c.1077G= c.5365G= (p.Glu1789=) n.1604G= c.1303G= (p.Glu435=) c.2916G= n.2301G= c.4417G= (p.Glu1473=) c.2536G= (p.Glu846=) c.1882G= (p.Glu628=) | |
| 12 | g.40323270G>T | CA343640 | LRRK2 | c.5620G>T (p.Glu1874Ter) c.*4529G>T (n.*4529G>T) c.1394G>T c.1065G>T (n.1065G>T) c.1265G>T c.787G>T (n.787G>T) c.1077G>T c.5365G>T (p.Glu1789Ter) n.1604G>T c.1303G>T (p.Glu435Ter) c.2916G>T n.2301G>T c.4417G>T (p.Glu1473Ter) c.2536G>T (p.Glu846Ter) c.1882G>T (p.Glu628Ter) | ClinVar dbSNP |
| 12 | g.40323271A>C | CA384421186 | LRRK2 | c.5621A>C (p.Glu1874Ala) c.*4530A>C (n.*4530A>C) c.1395A>C c.1066A>C (n.1066A>C) c.1266A>C c.788A>C (n.788A>C) c.1078A>C c.5366A>C (p.Glu1789Ala) n.1605A>C c.1304A>C (p.Glu435Ala) c.2917A>C n.2302A>C c.4418A>C (p.Glu1473Ala) c.2537A>C (p.Glu846Ala) c.1883A>C (p.Glu628Ala) | |
| 12 | g.40323271A>G | CA384421187 | LRRK2 | c.5621A>G (p.Glu1874Gly) c.*4530A>G (n.*4530A>G) c.1395A>G c.1066A>G (n.1066A>G) c.1266A>G c.788A>G (n.788A>G) c.1078A>G c.5366A>G (p.Glu1789Gly) n.1605A>G c.1304A>G (p.Glu435Gly) c.2917A>G n.2302A>G c.4418A>G (p.Glu1473Gly) c.2537A>G (p.Glu846Gly) c.1883A>G (p.Glu628Gly) | |
| 12 | g.40323271A>T | CA384421188 | LRRK2 | c.5621A>T (p.Glu1874Val) c.*4530A>T (n.*4530A>T) c.1395A>T c.1066A>T (n.1066A>T) c.1266A>T c.788A>T (n.788A>T) c.1078A>T c.5366A>T (p.Glu1789Val) n.1605A>T c.1304A>T (p.Glu435Val) c.2917A>T n.2302A>T c.4418A>T (p.Glu1473Val) c.2537A>T (p.Glu846Val) c.1883A>T (p.Glu628Val) | |
| 12 | g.40323272G>A | CA479273598 | LRRK2 | c.5622G>A (p.Glu1874=) c.*4531G>A (n.*4531G>A) c.1396G>A c.1067G>A (n.1067G>A) c.1267G>A c.789G>A (n.789G>A) c.1079G>A c.5367G>A (p.Glu1789=) n.1606G>A c.1305G>A (p.Glu435=) c.2918G>A n.2303G>A c.4419G>A (p.Glu1473=) c.2538G>A (p.Glu846=) c.1884G>A (p.Glu628=) | ClinVar |
| 12 | g.40323272G>C | CA384421189 | LRRK2 | c.5622G>C (p.Glu1874Asp) c.*4531G>C (n.*4531G>C) c.1396G>C c.1067G>C (n.1067G>C) c.1267G>C c.789G>C (n.789G>C) c.1079G>C c.5367G>C (p.Glu1789Asp) n.1606G>C c.1305G>C (p.Glu435Asp) c.2918G>C n.2303G>C c.4419G>C (p.Glu1473Asp) c.2538G>C (p.Glu846Asp) c.1884G>C (p.Glu628Asp) | |
| 12 | g.40323272G>T | CA384421190 | LRRK2 | c.5622G>T (p.Glu1874Asp) c.*4531G>T (n.*4531G>T) c.1396G>T c.1067G>T (n.1067G>T) c.1267G>T c.789G>T (n.789G>T) c.1079G>T c.5367G>T (p.Glu1789Asp) n.1606G>T c.1305G>T (p.Glu435Asp) c.2918G>T n.2303G>T c.4419G>T (p.Glu1473Asp) c.2538G>T (p.Glu846Asp) c.1884G>T (p.Glu628Asp) | |
| 12 | g.40323273T>A | CA384421191 | LRRK2 | c.5623T>A (p.Leu1875Met) c.*4532T>A (n.*4532T>A) c.1397T>A c.1068T>A (n.1068T>A) c.1268T>A c.790T>A (n.790T>A) c.1080T>A c.5368T>A (p.Leu1790Met) n.1607T>A c.1306T>A (p.Leu436Met) c.2919T>A n.2304T>A c.4420T>A (p.Leu1474Met) c.2539T>A (p.Leu847Met) c.1885T>A (p.Leu629Met) | |
| 12 | g.40323273T>C | CA6514491 | LRRK2 | c.5623T>C (p.Leu1875=) c.*4532T>C (n.*4532T>C) c.1397T>C c.1068T>C (n.1068T>C) c.1268T>C c.790T>C (n.790T>C) c.1080T>C c.5368T>C (p.Leu1790=) n.1607T>C c.1306T>C (p.Leu436=) c.2919T>C n.2304T>C c.4420T>C (p.Leu1474=) c.2539T>C (p.Leu847=) c.1885T>C (p.Leu629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40323273T>G | CA235363867 | LRRK2 | c.5623T>G (p.Leu1875Val) c.*4532T>G (n.*4532T>G) c.1397T>G c.1068T>G (n.1068T>G) c.1268T>G c.790T>G (n.790T>G) c.1080T>G c.5368T>G (p.Leu1790Val) n.1607T>G c.1306T>G (p.Leu436Val) c.2919T>G n.2304T>G c.4420T>G (p.Leu1474Val) c.2539T>G (p.Leu847Val) c.1885T>G (p.Leu629Val) | dbSNP |
| 12 | g.40323273T= | CA2031001395 | LRRK2 | c.5623T= (p.Leu1875=) c.*4532T= (n.*4532T=) c.1397T= c.1068T= (n.1068T=) c.1268T= c.790T= (n.790T=) c.1080T= c.5368T= (p.Leu1790=) n.1607T= c.1306T= (p.Leu436=) c.2919T= n.2304T= c.4420T= (p.Leu1474=) c.2539T= (p.Leu847=) c.1885T= (p.Leu629=) | |
| 12 | g.40323273_40323274insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG | CA6514492 | LRRK2 | c.5623_5624insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu1875SerfsTer3) c.*4532_*4533insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (n.*4532_*4533insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG) c.1397_1398insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG c.1068_1069insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (n.1068_1069insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG) c.1268_1269insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG c.790_791insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (n.790_791insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG) c.1080_1081insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG c.5368_5369insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu1790SerfsTer3) n.1607_1608insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG c.1306_1307insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu436SerfsTer3) c.2919_2920insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG n.2304_2305insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG c.4420_4421insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu1474SerfsTer3) c.2539_2540insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu847SerfsTer3) c.1885_1886insCAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTG (p.Leu629SerfsTer3) | ExAC |
| 12 | g.40323274T>A | CA384421194 | LRRK2 | c.5624T>A (p.Leu1875Ter) c.*4533T>A (n.*4533T>A) c.1398T>A c.1069T>A (n.1069T>A) c.1269T>A c.791T>A (n.791T>A) c.1081T>A c.5369T>A (p.Leu1790Ter) n.1608T>A c.1307T>A (p.Leu436Ter) c.2920T>A n.2305T>A c.4421T>A (p.Leu1474Ter) c.2540T>A (p.Leu847Ter) c.1886T>A (p.Leu629Ter) | |
| 12 | g.40323274T>C | CA384421193 | LRRK2 | c.5624T>C (p.Leu1875Ser) c.*4533T>C (n.*4533T>C) c.1398T>C c.1069T>C (n.1069T>C) c.1269T>C c.791T>C (n.791T>C) c.1081T>C c.5369T>C (p.Leu1790Ser) n.1608T>C c.1307T>C (p.Leu436Ser) c.2920T>C n.2305T>C c.4421T>C (p.Leu1474Ser) c.2540T>C (p.Leu847Ser) c.1886T>C (p.Leu629Ser) | |
| 12 | g.40323274T>G | CA384421192 | LRRK2 | c.5624T>G (p.Leu1875Trp) c.*4533T>G (n.*4533T>G) c.1398T>G c.1069T>G (n.1069T>G) c.1269T>G c.791T>G (n.791T>G) c.1081T>G c.5369T>G (p.Leu1790Trp) n.1608T>G c.1307T>G (p.Leu436Trp) c.2920T>G n.2305T>G c.4421T>G (p.Leu1474Trp) c.2540T>G (p.Leu847Trp) c.1886T>G (p.Leu629Trp) | |
| 12 | g.40323275G>A | CA479273599 | LRRK2 | c.5625G>A (p.Leu1875=) c.*4534G>A (n.*4534G>A) c.1399G>A c.1070G>A (n.1070G>A) c.1270G>A c.792G>A (n.792G>A) c.1082G>A c.5370G>A (p.Leu1790=) n.1609G>A c.1308G>A (p.Leu436=) c.2921G>A n.2306G>A c.4422G>A (p.Leu1474=) c.2541G>A (p.Leu847=) c.1887G>A (p.Leu629=) | |
| 12 | g.40323275G>C | CA384421195 | LRRK2 | c.5625G>C (p.Leu1875Phe) c.*4534G>C (n.*4534G>C) c.1399G>C c.1070G>C (n.1070G>C) c.1270G>C c.792G>C (n.792G>C) c.1082G>C c.5370G>C (p.Leu1790Phe) n.1609G>C c.1308G>C (p.Leu436Phe) c.2921G>C n.2306G>C c.4422G>C (p.Leu1474Phe) c.2541G>C (p.Leu847Phe) c.1887G>C (p.Leu629Phe) | |
| 12 | g.40323275G>T | CA384421196 | LRRK2 | c.5625G>T (p.Leu1875Phe) c.*4534G>T (n.*4534G>T) c.1399G>T c.1070G>T (n.1070G>T) c.1270G>T c.792G>T (n.792G>T) c.1082G>T c.5370G>T (p.Leu1790Phe) n.1609G>T c.1308G>T (p.Leu436Phe) c.2921G>T n.2306G>T c.4422G>T (p.Leu1474Phe) c.2541G>T (p.Leu847Phe) c.1887G>T (p.Leu629Phe) | |
| 12 | g.40323276G>A | CA384421197 | LRRK2 | c.5626G>A (p.Glu1876Lys) c.*4535G>A (n.*4535G>A) c.1400G>A c.1071G>A (n.1071G>A) c.1271G>A c.793G>A (n.793G>A) c.1083G>A c.5371G>A (p.Glu1791Lys) n.1610G>A c.1309G>A (p.Glu437Lys) c.2922G>A n.2307G>A c.4423G>A (p.Glu1475Lys) c.2542G>A (p.Glu848Lys) c.1888G>A (p.Glu630Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40323276G>C | CA384421198 | LRRK2 | c.5626G>C (p.Glu1876Gln) c.*4535G>C (n.*4535G>C) c.1400G>C c.1071G>C (n.1071G>C) c.1271G>C c.793G>C (n.793G>C) c.1083G>C c.5371G>C (p.Glu1791Gln) n.1610G>C c.1309G>C (p.Glu437Gln) c.2922G>C n.2307G>C c.4423G>C (p.Glu1475Gln) c.2542G>C (p.Glu848Gln) c.1888G>C (p.Glu630Gln) | |
| 12 | g.40323276G= | CA2031001399 | LRRK2 | c.5626G= (p.Glu1876=) c.*4535G= (n.*4535G=) c.1400G= c.1071G= (n.1071G=) c.1271G= c.793G= (n.793G=) c.1083G= c.5371G= (p.Glu1791=) n.1610G= c.1309G= (p.Glu437=) c.2922G= n.2307G= c.4423G= (p.Glu1475=) c.2542G= (p.Glu848=) c.1888G= (p.Glu630=) | |
| 12 | g.40323276G>T | CA384421199 | LRRK2 | c.5626G>T (p.Glu1876Ter) c.*4535G>T (n.*4535G>T) c.1400G>T c.1071G>T (n.1071G>T) c.1271G>T c.793G>T (n.793G>T) c.1083G>T c.5371G>T (p.Glu1791Ter) n.1610G>T c.1309G>T (p.Glu437Ter) c.2922G>T n.2307G>T c.4423G>T (p.Glu1475Ter) c.2542G>T (p.Glu848Ter) c.1888G>T (p.Glu630Ter) | |
| 12 | g.40323277A>C | CA384421200 | LRRK2 | c.5627A>C (p.Glu1876Ala) c.*4536A>C (n.*4536A>C) c.1401A>C c.1072A>C (n.1072A>C) c.1272A>C c.794A>C (n.794A>C) c.1084A>C c.5372A>C (p.Glu1791Ala) n.1611A>C c.1310A>C (p.Glu437Ala) c.2923A>C n.2308A>C c.4424A>C (p.Glu1475Ala) c.2543A>C (p.Glu848Ala) c.1889A>C (p.Glu630Ala) | |
| 12 | g.40323277A>G | CA384421201 | LRRK2 | c.5627A>G (p.Glu1876Gly) c.*4536A>G (n.*4536A>G) c.1401A>G c.1072A>G (n.1072A>G) c.1272A>G c.794A>G (n.794A>G) c.1084A>G c.5372A>G (p.Glu1791Gly) n.1611A>G c.1310A>G (p.Glu437Gly) c.2923A>G n.2308A>G c.4424A>G (p.Glu1475Gly) c.2543A>G (p.Glu848Gly) c.1889A>G (p.Glu630Gly) | |
| 12 | g.40323277A>T | CA384421202 | LRRK2 | c.5627A>T (p.Glu1876Val) c.*4536A>T (n.*4536A>T) c.1401A>T c.1072A>T (n.1072A>T) c.1272A>T c.794A>T (n.794A>T) c.1084A>T c.5372A>T (p.Glu1791Val) n.1611A>T c.1310A>T (p.Glu437Val) c.2923A>T n.2308A>T c.4424A>T (p.Glu1475Val) c.2543A>T (p.Glu848Val) c.1889A>T (p.Glu630Val) | |
| 12 | g.40323278A>C | CA384421203 | LRRK2 | c.5628A>C (p.Glu1876Asp) c.*4537A>C (n.*4537A>C) c.1402A>C c.1073A>C (n.1073A>C) c.1273A>C c.795A>C (n.795A>C) c.1085A>C c.5373A>C (p.Glu1791Asp) n.1612A>C c.1311A>C (p.Glu437Asp) c.2924A>C n.2309A>C c.4425A>C (p.Glu1475Asp) c.2544A>C (p.Glu848Asp) c.1890A>C (p.Glu630Asp) | |
| 12 | g.40323278A>G | CA479273604 | LRRK2 | c.5628A>G (p.Glu1876=) c.*4537A>G (n.*4537A>G) c.1402A>G c.1073A>G (n.1073A>G) c.1273A>G c.795A>G (n.795A>G) c.1085A>G c.5373A>G (p.Glu1791=) n.1612A>G c.1311A>G (p.Glu437=) c.2924A>G n.2309A>G c.4425A>G (p.Glu1475=) c.2544A>G (p.Glu848=) c.1890A>G (p.Glu630=) | |
| 12 | g.40323278A>T | CA384421204 | LRRK2 | c.5628A>T (p.Glu1876Asp) c.*4537A>T (n.*4537A>T) c.1402A>T c.1073A>T (n.1073A>T) c.1273A>T c.795A>T (n.795A>T) c.1085A>T c.5373A>T (p.Glu1791Asp) n.1612A>T c.1311A>T (p.Glu437Asp) c.2924A>T n.2309A>T c.4425A>T (p.Glu1475Asp) c.2544A>T (p.Glu848Asp) c.1890A>T (p.Glu630Asp) | |
| 12 | g.40323279T>A | CA384421205 | LRRK2 | c.5629T>A (p.Phe1877Ile) c.*4538T>A (n.*4538T>A) c.1403T>A c.1074T>A (n.1074T>A) c.1274T>A c.796T>A (n.796T>A) c.1086T>A c.5374T>A (p.Phe1792Ile) n.1613T>A c.1312T>A (p.Phe438Ile) c.2925T>A n.2310T>A c.4426T>A (p.Phe1476Ile) c.2545T>A (p.Phe849Ile) c.1891T>A (p.Phe631Ile) | |
| 12 | g.40323279T>C | CA384421206 | LRRK2 | c.5629T>C (p.Phe1877Leu) c.*4538T>C (n.*4538T>C) c.1403T>C c.1074T>C (n.1074T>C) c.1274T>C c.796T>C (n.796T>C) c.1086T>C c.5374T>C (p.Phe1792Leu) n.1613T>C c.1312T>C (p.Phe438Leu) c.2925T>C n.2310T>C c.4426T>C (p.Phe1476Leu) c.2545T>C (p.Phe849Leu) c.1891T>C (p.Phe631Leu) | |
| 12 | g.40323279T>G | CA384421207 | LRRK2 | c.5629T>G (p.Phe1877Val) c.*4538T>G (n.*4538T>G) c.1403T>G c.1074T>G (n.1074T>G) c.1274T>G c.796T>G (n.796T>G) c.1086T>G c.5374T>G (p.Phe1792Val) n.1613T>G c.1312T>G (p.Phe438Val) c.2925T>G n.2310T>G c.4426T>G (p.Phe1476Val) c.2545T>G (p.Phe849Val) c.1891T>G (p.Phe631Val) | |
| 12 | g.40323280T>A | CA384421210 | LRRK2 | c.5630T>A (p.Phe1877Tyr) c.*4539T>A (n.*4539T>A) c.1404T>A c.1075T>A (n.1075T>A) c.1275T>A c.797T>A (n.797T>A) c.1087T>A c.5375T>A (p.Phe1792Tyr) n.1614T>A c.1313T>A (p.Phe438Tyr) c.2926T>A n.2311T>A c.4427T>A (p.Phe1476Tyr) c.2546T>A (p.Phe849Tyr) c.1892T>A (p.Phe631Tyr) | ClinVar |
| 12 | g.40323280T>C | CA384421209 | LRRK2 | c.5630T>C (p.Phe1877Ser) c.*4539T>C (n.*4539T>C) c.1404T>C c.1075T>C (n.1075T>C) c.1275T>C c.797T>C (n.797T>C) c.1087T>C c.5375T>C (p.Phe1792Ser) n.1614T>C c.1313T>C (p.Phe438Ser) c.2926T>C n.2311T>C c.4427T>C (p.Phe1476Ser) c.2546T>C (p.Phe849Ser) c.1892T>C (p.Phe631Ser) | |
| 12 | g.40323280T>G | CA384421208 | LRRK2 | c.5630T>G (p.Phe1877Cys) c.*4539T>G (n.*4539T>G) c.1404T>G c.1075T>G (n.1075T>G) c.1275T>G c.797T>G (n.797T>G) c.1087T>G c.5375T>G (p.Phe1792Cys) n.1614T>G c.1313T>G (p.Phe438Cys) c.2926T>G n.2311T>G c.4427T>G (p.Phe1476Cys) c.2546T>G (p.Phe849Cys) c.1892T>G (p.Phe631Cys) | |
| 12 | g.40323281T>A | CA384421212 | LRRK2 | c.5631T>A (p.Phe1877Leu) c.*4540T>A (n.*4540T>A) c.1405T>A c.1076T>A (n.1076T>A) c.1276T>A c.798T>A (n.798T>A) c.1088T>A c.5376T>A (p.Phe1792Leu) n.1615T>A c.1314T>A (p.Phe438Leu) c.2927T>A n.2312T>A c.4428T>A (p.Phe1476Leu) c.2547T>A (p.Phe849Leu) c.1893T>A (p.Phe631Leu) | |
| 12 | g.40323281T>C | CA479273612 | LRRK2 | c.5631T>C (p.Phe1877=) c.*4540T>C (n.*4540T>C) c.1405T>C c.1076T>C (n.1076T>C) c.1276T>C c.798T>C (n.798T>C) c.1088T>C c.5376T>C (p.Phe1792=) n.1615T>C c.1314T>C (p.Phe438=) c.2927T>C n.2312T>C c.4428T>C (p.Phe1476=) c.2547T>C (p.Phe849=) c.1893T>C (p.Phe631=) | |
| 12 | g.40323281T>G | CA384421211 | LRRK2 | c.5631T>G (p.Phe1877Leu) c.*4540T>G (n.*4540T>G) c.1405T>G c.1076T>G (n.1076T>G) c.1276T>G c.798T>G (n.798T>G) c.1088T>G c.5376T>G (p.Phe1792Leu) n.1615T>G c.1314T>G (p.Phe438Leu) c.2927T>G n.2312T>G c.4428T>G (p.Phe1476Leu) c.2547T>G (p.Phe849Leu) c.1893T>G (p.Phe631Leu) | |
| 12 | g.40323282G>A | CA384421213 | LRRK2 | c.5632G>A (p.Glu1878Lys) c.*4541G>A (n.*4541G>A) c.1406G>A c.1077G>A (n.1077G>A) c.1277G>A c.799G>A (n.799G>A) c.1089G>A c.5377G>A (p.Glu1793Lys) n.1616G>A c.1315G>A (p.Glu439Lys) c.2928G>A n.2313G>A c.4429G>A (p.Glu1477Lys) c.2548G>A (p.Glu850Lys) c.1894G>A (p.Glu632Lys) | |
| 12 | g.40323282G>C | CA384421214 | LRRK2 | c.5632G>C (p.Glu1878Gln) c.*4541G>C (n.*4541G>C) c.1406G>C c.1077G>C (n.1077G>C) c.1277G>C c.799G>C (n.799G>C) c.1089G>C c.5377G>C (p.Glu1793Gln) n.1616G>C c.1315G>C (p.Glu439Gln) c.2928G>C n.2313G>C c.4429G>C (p.Glu1477Gln) c.2548G>C (p.Glu850Gln) c.1894G>C (p.Glu632Gln) | |
| 12 | g.40323282G>T | CA384421215 | LRRK2 | c.5632G>T (p.Glu1878Ter) c.*4541G>T (n.*4541G>T) c.1406G>T c.1077G>T (n.1077G>T) c.1277G>T c.799G>T (n.799G>T) c.1089G>T c.5377G>T (p.Glu1793Ter) n.1616G>T c.1315G>T (p.Glu439Ter) c.2928G>T n.2313G>T c.4429G>T (p.Glu1477Ter) c.2548G>T (p.Glu850Ter) c.1894G>T (p.Glu632Ter) | |
| 12 | g.40323283A>C | CA384421216 | LRRK2 | c.5633A>C (p.Glu1878Ala) c.*4542A>C (n.*4542A>C) c.1407A>C c.1078A>C (n.1078A>C) c.1278A>C c.800A>C (n.800A>C) c.1090A>C c.5378A>C (p.Glu1793Ala) n.1617A>C c.1316A>C (p.Glu439Ala) c.2929A>C n.2314A>C c.4430A>C (p.Glu1477Ala) c.2549A>C (p.Glu850Ala) c.1895A>C (p.Glu632Ala) |