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.40323166T>A | CA384420958 | LRRK2 | c.5516T>A (p.Leu1839His) c.*4425T>A (n.*4425T>A) c.1290T>A c.961T>A (n.961T>A) c.1161T>A c.683T>A (n.683T>A) c.973T>A c.5261T>A (p.Leu1754His) n.1500T>A c.1199T>A (p.Leu400His) c.2812T>A n.2197T>A c.4313T>A (p.Leu1438His) c.2432T>A (p.Leu811His) c.1778T>A (p.Leu593His) | |
| 12 | g.40323166T>C | CA384420959 | LRRK2 | c.5516T>C (p.Leu1839Pro) c.*4425T>C (n.*4425T>C) c.1290T>C c.961T>C (n.961T>C) c.1161T>C c.683T>C (n.683T>C) c.973T>C c.5261T>C (p.Leu1754Pro) n.1500T>C c.1199T>C (p.Leu400Pro) c.2812T>C n.2197T>C c.4313T>C (p.Leu1438Pro) c.2432T>C (p.Leu811Pro) c.1778T>C (p.Leu593Pro) | |
| 12 | g.40323166T>G | CA384420960 | LRRK2 | c.5516T>G (p.Leu1839Arg) c.*4425T>G (n.*4425T>G) c.1290T>G c.961T>G (n.961T>G) c.1161T>G c.683T>G (n.683T>G) c.973T>G c.5261T>G (p.Leu1754Arg) n.1500T>G c.1199T>G (p.Leu400Arg) c.2812T>G n.2197T>G c.4313T>G (p.Leu1438Arg) c.2432T>G (p.Leu811Arg) c.1778T>G (p.Leu593Arg) | |
| 12 | g.40323167C>A | CA235363769 | LRRK2 | c.5517C>A (p.Leu1839=) c.*4426C>A (n.*4426C>A) c.1291C>A c.962C>A (n.962C>A) c.1162C>A c.684C>A (n.684C>A) c.974C>A c.5262C>A (p.Leu1754=) n.1501C>A c.1200C>A (p.Leu400=) c.2813C>A n.2198C>A c.4314C>A (p.Leu1438=) c.2433C>A (p.Leu811=) c.1779C>A (p.Leu593=) | dbSNP COSMIC COSMIC |
| 12 | g.40323167C= | CA2031001188 | LRRK2 | c.5517C= (p.Leu1839=) c.*4426C= (n.*4426C=) c.1291C= c.962C= (n.962C=) c.1162C= c.684C= (n.684C=) c.974C= c.5262C= (p.Leu1754=) n.1501C= c.1200C= (p.Leu400=) c.2813C= n.2198C= c.4314C= (p.Leu1438=) c.2433C= (p.Leu811=) c.1779C= (p.Leu593=) | |
| 12 | g.40323167C>G | CA479273172 | LRRK2 | c.5517C>G (p.Leu1839=) c.*4426C>G (n.*4426C>G) c.1291C>G c.962C>G (n.962C>G) c.1162C>G c.684C>G (n.684C>G) c.974C>G c.5262C>G (p.Leu1754=) n.1501C>G c.1200C>G (p.Leu400=) c.2813C>G n.2198C>G c.4314C>G (p.Leu1438=) c.2433C>G (p.Leu811=) c.1779C>G (p.Leu593=) | gnomAD v4 |
| 12 | g.40323167C>T | CA479273175 | LRRK2 | c.5517C>T (p.Leu1839=) c.*4426C>T (n.*4426C>T) c.1291C>T c.962C>T (n.962C>T) c.1162C>T c.684C>T (n.684C>T) c.974C>T c.5262C>T (p.Leu1754=) n.1501C>T c.1200C>T (p.Leu400=) c.2813C>T n.2198C>T c.4314C>T (p.Leu1438=) c.2433C>T (p.Leu811=) c.1779C>T (p.Leu593=) | |
| 12 | g.40323168T>A | CA384420961 | LRRK2 | c.5518T>A (p.Leu1840Ile) c.*4427T>A (n.*4427T>A) c.1292T>A c.963T>A (n.963T>A) c.1163T>A c.685T>A (n.685T>A) c.975T>A c.5263T>A (p.Leu1755Ile) n.1502T>A c.1201T>A (p.Leu401Ile) c.2814T>A n.2199T>A c.4315T>A (p.Leu1439Ile) c.2434T>A (p.Leu812Ile) c.1780T>A (p.Leu594Ile) | |
| 12 | g.40323168T>C | CA479273179 | LRRK2 | c.5518T>C (p.Leu1840=) c.*4427T>C (n.*4427T>C) c.1292T>C c.963T>C (n.963T>C) c.1163T>C c.685T>C (n.685T>C) c.975T>C c.5263T>C (p.Leu1755=) n.1502T>C c.1201T>C (p.Leu401=) c.2814T>C n.2199T>C c.4315T>C (p.Leu1439=) c.2434T>C (p.Leu812=) c.1780T>C (p.Leu594=) | |
| 12 | g.40323168T>G | CA384420962 | LRRK2 | c.5518T>G (p.Leu1840Val) c.*4427T>G (n.*4427T>G) c.1292T>G c.963T>G (n.963T>G) c.1163T>G c.685T>G (n.685T>G) c.975T>G c.5263T>G (p.Leu1755Val) n.1502T>G c.1201T>G (p.Leu401Val) c.2814T>G n.2199T>G c.4315T>G (p.Leu1439Val) c.2434T>G (p.Leu812Val) c.1780T>G (p.Leu594Val) | |
| 12 | g.40323169T>A | CA384420965 | LRRK2 | c.5519T>A (p.Leu1840Ter) c.*4428T>A (n.*4428T>A) c.1293T>A c.964T>A (n.964T>A) c.1164T>A c.686T>A (n.686T>A) c.976T>A c.5264T>A (p.Leu1755Ter) n.1503T>A c.1202T>A (p.Leu401Ter) c.2815T>A n.2200T>A c.4316T>A (p.Leu1439Ter) c.2435T>A (p.Leu812Ter) c.1781T>A (p.Leu594Ter) | |
| 12 | g.40323169T>C | CA384420964 | LRRK2 | c.5519T>C (p.Leu1840Ser) c.*4428T>C (n.*4428T>C) c.1293T>C c.964T>C (n.964T>C) c.1164T>C c.686T>C (n.686T>C) c.976T>C c.5264T>C (p.Leu1755Ser) n.1503T>C c.1202T>C (p.Leu401Ser) c.2815T>C n.2200T>C c.4316T>C (p.Leu1439Ser) c.2435T>C (p.Leu812Ser) c.1781T>C (p.Leu594Ser) | gnomAD v4 |
| 12 | g.40323169T>G | CA384420963 | LRRK2 | c.5519T>G (p.Leu1840Ter) c.*4428T>G (n.*4428T>G) c.1293T>G c.964T>G (n.964T>G) c.1164T>G c.686T>G (n.686T>G) c.976T>G c.5264T>G (p.Leu1755Ter) n.1503T>G c.1202T>G (p.Leu401Ter) c.2815T>G n.2200T>G c.4316T>G (p.Leu1439Ter) c.2435T>G (p.Leu812Ter) c.1781T>G (p.Leu594Ter) | |
| 12 | g.40323170A>C | CA384420966 | LRRK2 | c.5520A>C (p.Leu1840Phe) c.*4429A>C (n.*4429A>C) c.1294A>C c.965A>C (n.965A>C) c.1165A>C c.687A>C (n.687A>C) c.977A>C c.5265A>C (p.Leu1755Phe) n.1504A>C c.1203A>C (p.Leu401Phe) c.2816A>C n.2201A>C c.4317A>C (p.Leu1439Phe) c.2436A>C (p.Leu812Phe) c.1782A>C (p.Leu594Phe) | gnomAD v4 |
| 12 | g.40323170A>G | CA479273185 | LRRK2 | c.5520A>G (p.Leu1840=) c.*4429A>G (n.*4429A>G) c.1294A>G c.965A>G (n.965A>G) c.1165A>G c.687A>G (n.687A>G) c.977A>G c.5265A>G (p.Leu1755=) n.1504A>G c.1203A>G (p.Leu401=) c.2816A>G n.2201A>G c.4317A>G (p.Leu1439=) c.2436A>G (p.Leu812=) c.1782A>G (p.Leu594=) | gnomAD v4 |
| 12 | g.40323170A>T | CA384420967 | LRRK2 | c.5520A>T (p.Leu1840Phe) c.*4429A>T (n.*4429A>T) c.1294A>T c.965A>T (n.965A>T) c.1165A>T c.687A>T (n.687A>T) c.977A>T c.5265A>T (p.Leu1755Phe) n.1504A>T c.1203A>T (p.Leu401Phe) c.2816A>T n.2201A>T c.4317A>T (p.Leu1439Phe) c.2436A>T (p.Leu812Phe) c.1782A>T (p.Leu594Phe) | ClinVar |
| 12 | g.40323171G>A | CA384420968 | LRRK2 | c.5521G>A (p.Val1841Ile) c.*4430G>A (n.*4430G>A) c.1295G>A c.966G>A (n.966G>A) c.1166G>A c.688G>A (n.688G>A) c.978G>A c.5266G>A (p.Val1756Ile) n.1505G>A c.1204G>A (p.Val402Ile) c.2817G>A n.2202G>A c.4318G>A (p.Val1440Ile) c.2437G>A (p.Val813Ile) c.1783G>A (p.Val595Ile) | ClinVar |
| 12 | g.40323171G>C | CA384420969 | LRRK2 | c.5521G>C (p.Val1841Leu) c.*4430G>C (n.*4430G>C) c.1295G>C c.966G>C (n.966G>C) c.1166G>C c.688G>C (n.688G>C) c.978G>C c.5266G>C (p.Val1756Leu) n.1505G>C c.1204G>C (p.Val402Leu) c.2817G>C n.2202G>C c.4318G>C (p.Val1440Leu) c.2437G>C (p.Val813Leu) c.1783G>C (p.Val595Leu) | gnomAD v4 |
| 12 | g.40323171G>T | CA384420970 | LRRK2 | c.5521G>T (p.Val1841Leu) c.*4430G>T (n.*4430G>T) c.1295G>T c.966G>T (n.966G>T) c.1166G>T c.688G>T (n.688G>T) c.978G>T c.5266G>T (p.Val1756Leu) n.1505G>T c.1204G>T (p.Val402Leu) c.2817G>T n.2202G>T c.4318G>T (p.Val1440Leu) c.2437G>T (p.Val813Leu) c.1783G>T (p.Val595Leu) | |
| 12 | g.40323172T>A | CA384420971 | LRRK2 | c.5522T>A (p.Val1841Glu) c.*4431T>A (n.*4431T>A) c.1296T>A c.967T>A (n.967T>A) c.1167T>A c.689T>A (n.689T>A) c.979T>A c.5267T>A (p.Val1756Glu) n.1506T>A c.1205T>A (p.Val402Glu) c.2818T>A n.2203T>A c.4319T>A (p.Val1440Glu) c.2438T>A (p.Val813Glu) c.1784T>A (p.Val595Glu) | |
| 12 | g.40323172T>C | CA384420972 | LRRK2 | c.5522T>C (p.Val1841Ala) c.*4431T>C (n.*4431T>C) c.1296T>C c.967T>C (n.967T>C) c.1167T>C c.689T>C (n.689T>C) c.979T>C c.5267T>C (p.Val1756Ala) n.1506T>C c.1205T>C (p.Val402Ala) c.2818T>C n.2203T>C c.4319T>C (p.Val1440Ala) c.2438T>C (p.Val813Ala) c.1784T>C (p.Val595Ala) | |
| 12 | g.40323172T>G | CA384420973 | LRRK2 | c.5522T>G (p.Val1841Gly) c.*4431T>G (n.*4431T>G) c.1296T>G c.967T>G (n.967T>G) c.1167T>G c.689T>G (n.689T>G) c.979T>G c.5267T>G (p.Val1756Gly) n.1506T>G c.1205T>G (p.Val402Gly) c.2818T>G n.2203T>G c.4319T>G (p.Val1440Gly) c.2438T>G (p.Val813Gly) c.1784T>G (p.Val595Gly) | |
| 12 | g.40323173A>C | CA479273203 | LRRK2 | c.5523A>C (p.Val1841=) c.*4432A>C (n.*4432A>C) c.1297A>C c.968A>C (n.968A>C) c.1168A>C c.690A>C (n.690A>C) c.980A>C c.5268A>C (p.Val1756=) n.1507A>C c.1206A>C (p.Val402=) c.2819A>C n.2204A>C c.4320A>C (p.Val1440=) c.2439A>C (p.Val813=) c.1785A>C (p.Val595=) | |
| 12 | g.40323173A>G | CA479273205 | LRRK2 | c.5523A>G (p.Val1841=) c.*4432A>G (n.*4432A>G) c.1297A>G c.968A>G (n.968A>G) c.1168A>G c.690A>G (n.690A>G) c.980A>G c.5268A>G (p.Val1756=) n.1507A>G c.1206A>G (p.Val402=) c.2819A>G n.2204A>G c.4320A>G (p.Val1440=) c.2439A>G (p.Val813=) c.1785A>G (p.Val595=) | |
| 12 | g.40323173A>T | CA479273197 | LRRK2 | c.5523A>T (p.Val1841=) c.*4432A>T (n.*4432A>T) c.1297A>T c.968A>T (n.968A>T) c.1168A>T c.690A>T (n.690A>T) c.980A>T c.5268A>T (p.Val1756=) n.1507A>T c.1206A>T (p.Val402=) c.2819A>T n.2204A>T c.4320A>T (p.Val1440=) c.2439A>T (p.Val813=) c.1785A>T (p.Val595=) | |
| 12 | g.40323174A>C | CA384420974 | LRRK2 | c.5524A>C (p.Asn1842His) c.*4433A>C (n.*4433A>C) c.1298A>C c.969A>C (n.969A>C) c.1169A>C c.691A>C (n.691A>C) c.981A>C c.5269A>C (p.Asn1757His) n.1508A>C c.1207A>C (p.Asn403His) c.2820A>C n.2205A>C c.4321A>C (p.Asn1441His) c.2440A>C (p.Asn814His) c.1786A>C (p.Asn596His) | |
| 12 | g.40323174A>G | CA384420975 | LRRK2 | c.5524A>G (p.Asn1842Asp) c.*4433A>G (n.*4433A>G) c.1298A>G c.969A>G (n.969A>G) c.1169A>G c.691A>G (n.691A>G) c.981A>G c.5269A>G (p.Asn1757Asp) n.1508A>G c.1207A>G (p.Asn403Asp) c.2820A>G n.2205A>G c.4321A>G (p.Asn1441Asp) c.2440A>G (p.Asn814Asp) c.1786A>G (p.Asn596Asp) | gnomAD v4 |
| 12 | g.40323174A>T | CA384420976 | LRRK2 | c.5524A>T (p.Asn1842Tyr) c.*4433A>T (n.*4433A>T) c.1298A>T c.969A>T (n.969A>T) c.1169A>T c.691A>T (n.691A>T) c.981A>T c.5269A>T (p.Asn1757Tyr) n.1508A>T c.1207A>T (p.Asn403Tyr) c.2820A>T n.2205A>T c.4321A>T (p.Asn1441Tyr) c.2440A>T (p.Asn814Tyr) c.1786A>T (p.Asn596Tyr) | |
| 12 | g.40323175A>C | CA384420978 | LRRK2 | c.5525A>C (p.Asn1842Thr) c.*4434A>C (n.*4434A>C) c.1299A>C c.970A>C (n.970A>C) c.1170A>C c.692A>C (n.692A>C) c.982A>C c.5270A>C (p.Asn1757Thr) n.1509A>C c.1208A>C (p.Asn403Thr) c.2821A>C n.2206A>C c.4322A>C (p.Asn1441Thr) c.2441A>C (p.Asn814Thr) c.1787A>C (p.Asn596Thr) | |
| 12 | g.40323175A>G | CA384420979 | LRRK2 | c.5525A>G (p.Asn1842Ser) c.*4434A>G (n.*4434A>G) c.1299A>G c.970A>G (n.970A>G) c.1170A>G c.692A>G (n.692A>G) c.982A>G c.5270A>G (p.Asn1757Ser) n.1509A>G c.1208A>G (p.Asn403Ser) c.2821A>G n.2206A>G c.4322A>G (p.Asn1441Ser) c.2441A>G (p.Asn814Ser) c.1787A>G (p.Asn596Ser) | |
| 12 | g.40323175A>T | CA384420977 | LRRK2 | c.5525A>T (p.Asn1842Ile) c.*4434A>T (n.*4434A>T) c.1299A>T c.970A>T (n.970A>T) c.1170A>T c.692A>T (n.692A>T) c.982A>T c.5270A>T (p.Asn1757Ile) n.1509A>T c.1208A>T (p.Asn403Ile) c.2821A>T n.2206A>T c.4322A>T (p.Asn1441Ile) c.2441A>T (p.Asn814Ile) c.1787A>T (p.Asn596Ile) | |
| 12 | g.40323176T>A | CA384420980 | LRRK2 | c.5526T>A (p.Asn1842Lys) c.*4435T>A (n.*4435T>A) c.1300T>A c.971T>A (n.971T>A) c.1171T>A c.693T>A (n.693T>A) c.983T>A c.5271T>A (p.Asn1757Lys) n.1510T>A c.1209T>A (p.Asn403Lys) c.2822T>A n.2207T>A c.4323T>A (p.Asn1441Lys) c.2442T>A (p.Asn814Lys) c.1788T>A (p.Asn596Lys) | |
| 12 | g.40323176T>C | CA479273218 | LRRK2 | c.5526T>C (p.Asn1842=) c.*4435T>C (n.*4435T>C) c.1300T>C c.971T>C (n.971T>C) c.1171T>C c.693T>C (n.693T>C) c.983T>C c.5271T>C (p.Asn1757=) n.1510T>C c.1209T>C (p.Asn403=) c.2822T>C n.2207T>C c.4323T>C (p.Asn1441=) c.2442T>C (p.Asn814=) c.1788T>C (p.Asn596=) | |
| 12 | g.40323176T>G | CA384420981 | LRRK2 | c.5526T>G (p.Asn1842Lys) c.*4435T>G (n.*4435T>G) c.1300T>G c.971T>G (n.971T>G) c.1171T>G c.693T>G (n.693T>G) c.983T>G c.5271T>G (p.Asn1757Lys) n.1510T>G c.1209T>G (p.Asn403Lys) c.2822T>G n.2207T>G c.4323T>G (p.Asn1441Lys) c.2442T>G (p.Asn814Lys) c.1788T>G (p.Asn596Lys) | |
| 12 | g.40323177C>A | CA384420982 | LRRK2 | c.5527C>A (p.Pro1843Thr) c.*4436C>A (n.*4436C>A) c.1301C>A c.972C>A (n.972C>A) c.1172C>A c.694C>A (n.694C>A) c.984C>A c.5272C>A (p.Pro1758Thr) n.1511C>A c.1210C>A (p.Pro404Thr) c.2823C>A n.2208C>A c.4324C>A (p.Pro1442Thr) c.2443C>A (p.Pro815Thr) c.1789C>A (p.Pro597Thr) | |
| 12 | g.40323177C>G | CA384420983 | LRRK2 | c.5527C>G (p.Pro1843Ala) c.*4436C>G (n.*4436C>G) c.1301C>G c.972C>G (n.972C>G) c.1172C>G c.694C>G (n.694C>G) c.984C>G c.5272C>G (p.Pro1758Ala) n.1511C>G c.1210C>G (p.Pro404Ala) c.2823C>G n.2208C>G c.4324C>G (p.Pro1442Ala) c.2443C>G (p.Pro815Ala) c.1789C>G (p.Pro597Ala) | |
| 12 | g.40323177C>T | CA384420984 | LRRK2 | c.5527C>T (p.Pro1843Ser) c.*4436C>T (n.*4436C>T) c.1301C>T c.972C>T (n.972C>T) c.1172C>T c.694C>T (n.694C>T) c.984C>T c.5272C>T (p.Pro1758Ser) n.1511C>T c.1210C>T (p.Pro404Ser) c.2823C>T n.2208C>T c.4324C>T (p.Pro1442Ser) c.2443C>T (p.Pro815Ser) c.1789C>T (p.Pro597Ser) | ClinVar |
| 12 | g.40323178C>A | CA384420985 | LRRK2 | c.5528C>A (p.Pro1843Gln) c.*4437C>A (n.*4437C>A) c.1302C>A c.973C>A (n.973C>A) c.1173C>A c.695C>A (n.695C>A) c.985C>A c.5273C>A (p.Pro1758Gln) n.1512C>A c.1211C>A (p.Pro404Gln) c.2824C>A n.2209C>A c.4325C>A (p.Pro1442Gln) c.2444C>A (p.Pro815Gln) c.1790C>A (p.Pro597Gln) | |
| 12 | g.40323178C>G | CA384420986 | LRRK2 | c.5528C>G (p.Pro1843Arg) c.*4437C>G (n.*4437C>G) c.1302C>G c.973C>G (n.973C>G) c.1173C>G c.695C>G (n.695C>G) c.985C>G c.5273C>G (p.Pro1758Arg) n.1512C>G c.1211C>G (p.Pro404Arg) c.2824C>G n.2209C>G c.4325C>G (p.Pro1442Arg) c.2444C>G (p.Pro815Arg) c.1790C>G (p.Pro597Arg) | |
| 12 | g.40323178C>T | CA384420987 | LRRK2 | c.5528C>T (p.Pro1843Leu) c.*4437C>T (n.*4437C>T) c.1302C>T c.973C>T (n.973C>T) c.1173C>T c.695C>T (n.695C>T) c.985C>T c.5273C>T (p.Pro1758Leu) n.1512C>T c.1211C>T (p.Pro404Leu) c.2824C>T n.2209C>T c.4325C>T (p.Pro1442Leu) c.2444C>T (p.Pro815Leu) c.1790C>T (p.Pro597Leu) | gnomAD v4 |
| 12 | g.40323179A>C | CA479273231 | LRRK2 | c.5529A>C (p.Pro1843=) c.*4438A>C (n.*4438A>C) c.1303A>C c.974A>C (n.974A>C) c.1174A>C c.696A>C (n.696A>C) c.986A>C c.5274A>C (p.Pro1758=) n.1513A>C c.1212A>C (p.Pro404=) c.2825A>C n.2210A>C c.4326A>C (p.Pro1442=) c.2445A>C (p.Pro815=) c.1791A>C (p.Pro597=) | |
| 12 | g.40323179A>G | CA479273234 | LRRK2 | c.5529A>G (p.Pro1843=) c.*4438A>G (n.*4438A>G) c.1303A>G c.974A>G (n.974A>G) c.1174A>G c.696A>G (n.696A>G) c.986A>G c.5274A>G (p.Pro1758=) n.1513A>G c.1212A>G (p.Pro404=) c.2825A>G n.2210A>G c.4326A>G (p.Pro1442=) c.2445A>G (p.Pro815=) c.1791A>G (p.Pro597=) | ClinVar gnomAD v4 |
| 12 | g.40323179A>T | CA479273232 | LRRK2 | c.5529A>T (p.Pro1843=) c.*4438A>T (n.*4438A>T) c.1303A>T c.974A>T (n.974A>T) c.1174A>T c.696A>T (n.696A>T) c.986A>T c.5274A>T (p.Pro1758=) n.1513A>T c.1212A>T (p.Pro404=) c.2825A>T n.2210A>T c.4326A>T (p.Pro1442=) c.2445A>T (p.Pro815=) c.1791A>T (p.Pro597=) | |
| 12 | g.40323180G>A | CA384420988 | LRRK2 | c.5530G>A (p.Asp1844Asn) c.*4439G>A (n.*4439G>A) c.1304G>A c.975G>A (n.975G>A) c.1175G>A c.697G>A (n.697G>A) c.987G>A c.5275G>A (p.Asp1759Asn) n.1514G>A c.1213G>A (p.Asp405Asn) c.2826G>A n.2211G>A c.4327G>A (p.Asp1443Asn) c.2446G>A (p.Asp816Asn) c.1792G>A (p.Asp598Asn) | |
| 12 | g.40323180G>C | CA235363770 | LRRK2 | c.5530G>C (p.Asp1844His) c.*4439G>C (n.*4439G>C) c.1304G>C c.975G>C (n.975G>C) c.1175G>C c.697G>C (n.697G>C) c.987G>C c.5275G>C (p.Asp1759His) n.1514G>C c.1213G>C (p.Asp405His) c.2826G>C n.2211G>C c.4327G>C (p.Asp1443His) c.2446G>C (p.Asp816His) c.1792G>C (p.Asp598His) | dbSNP gnomAD v4 |
| 12 | g.40323180G= | CA2031001212 | LRRK2 | c.5530G= (p.Asp1844=) c.*4439G= (n.*4439G=) c.1304G= c.975G= (n.975G=) c.1175G= c.697G= (n.697G=) c.987G= c.5275G= (p.Asp1759=) n.1514G= c.1213G= (p.Asp405=) c.2826G= n.2211G= c.4327G= (p.Asp1443=) c.2446G= (p.Asp816=) c.1792G= (p.Asp598=) | |
| 12 | g.40323180G>T | CA384420989 | LRRK2 | c.5530G>T (p.Asp1844Tyr) c.*4439G>T (n.*4439G>T) c.1304G>T c.975G>T (n.975G>T) c.1175G>T c.697G>T (n.697G>T) c.987G>T c.5275G>T (p.Asp1759Tyr) n.1514G>T c.1213G>T (p.Asp405Tyr) c.2826G>T n.2211G>T c.4327G>T (p.Asp1443Tyr) c.2446G>T (p.Asp816Tyr) c.1792G>T (p.Asp598Tyr) | |
| 12 | g.40323181A>C | CA384420991 | LRRK2 | c.5531A>C (p.Asp1844Ala) c.*4440A>C (n.*4440A>C) c.1305A>C c.976A>C (n.976A>C) c.1176A>C c.698A>C (n.698A>C) c.988A>C c.5276A>C (p.Asp1759Ala) n.1515A>C c.1214A>C (p.Asp405Ala) c.2827A>C n.2212A>C c.4328A>C (p.Asp1443Ala) c.2447A>C (p.Asp816Ala) c.1793A>C (p.Asp598Ala) | |
| 12 | g.40323181A>G | CA384420992 | LRRK2 | c.5531A>G (p.Asp1844Gly) c.*4440A>G (n.*4440A>G) c.1305A>G c.976A>G (n.976A>G) c.1176A>G c.698A>G (n.698A>G) c.988A>G c.5276A>G (p.Asp1759Gly) n.1515A>G c.1214A>G (p.Asp405Gly) c.2827A>G n.2212A>G c.4328A>G (p.Asp1443Gly) c.2447A>G (p.Asp816Gly) c.1793A>G (p.Asp598Gly) | |
| 12 | g.40323181A>T | CA384420990 | LRRK2 | c.5531A>T (p.Asp1844Val) c.*4440A>T (n.*4440A>T) c.1305A>T c.976A>T (n.976A>T) c.1176A>T c.698A>T (n.698A>T) c.988A>T c.5276A>T (p.Asp1759Val) n.1515A>T c.1214A>T (p.Asp405Val) c.2827A>T n.2212A>T c.4328A>T (p.Asp1443Val) c.2447A>T (p.Asp816Val) c.1793A>T (p.Asp598Val) |