LRRK2 leucine rich repeat kinase 2

Canonical transcript: NM_198578

521 unique variant annotations were identified in 760 publications
Gene-Specific Resource Links:
OMIM
Entrez
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HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
12-40618947-G-T c.14G>T p.Ser5Ile Missense 1/51 - 1
12-40618961-G-A c.28G>A p.Glu10Lys Missense 1/51 - 2
12-40618964-GA-AG c.31_32delinsAG p.Glu11Arg Missense 1/51 - 1
12-40618964-GAG-TTT c.31_33delinsTTT p.Glu11Phe Missense 1/51 - 1
12-40618965-A-C c.32A>C p.Glu11Ala Missense 1/51 - 1
12-40618973-GA-AG c.40_41delinsAG p.Glu14Arg Missense 1/51 - 1
12-40618973-GAA-TTT c.40_42delinsTTT p.Glu14Phe Missense 1/51 - 1
12-40618983-AG-TC c.50_51delinsTC p.Lys17Ile Missense 1/51 - 1
12-40619014-G-T c.81G>T p.Gln27His Missense 1/51 - 2
12-40619021-AA-GC c.88_89delinsGC p.Lys30Ala Missense 1/51 - 4
12-40619045-A-AA c.112dup p.Ile38Asnfs*71 Frameshift 1/51 - 1
12-40619069-A-G c.136A>G p.Thr46Ala Missense 1/51 - 2
12-40619078-G-A c.145G>A p.Glu49Lys Missense 1/51 - 1
12-40619082-G-A c.149G>A p.Arg50His Missense 1/51 - 4
12-40619343-C-T c.152-14C>T - IntronicSNV - 1/50 1
12-40619360-C-T c.155C>T p.Ser52Phe Missense 2/51 - 1
12-40619377-AA-GC c.172_173delinsGC p.Lys58Ala Missense 2/51 - 1
12-40619377-A-C c.172A>C p.Lys58Gln Missense 2/51 - 1
12-40619377-A-G c.172A>G p.Lys58Glu Missense 2/51 - 1
12-40619419-A-G c.214A>G p.Met72Val Missense 2/51 - 1
12-40619422-AG-CT c.217_218inv p.Arg73Leu Missense 2/51 - 1
12-40619423-G-C c.218G>C p.Arg73Thr Missense 2/51 - 1
12-40619430-G-A c.225G>A p.Ala75Ala Synonymous 2/51 - 2
12-40619430-G-T c.225G>T p.Ala75Ala Synonymous 2/51 - 2
12-40619431-AGT-GAG c.226_228delinsGAG p.Ser76Glu Missense 2/51 - 1
12-40619438-A-T c.233A>T p.Gln78Leu Missense 2/51 - 1
12-40619441-A-T c.236A>T p.Gln79Leu Missense 2/51 - 4
12-40620808-C-G c.237+1366C>G - IntronicSNV - 2/50 21
12-40620815-G-A c.237+1373G>A - IntronicSNV - 2/50 3
12-40621892-A-G c.237+2450A>G - IntronicSNV - 2/50 1
12-40622790-C-T c.238-3286C>T - IntronicSNV - 2/50 1
12-40623727-G-A c.238-2349G>A - IntronicSNV - 2/50 3
12-40625081-G-A c.238-995G>A - IntronicSNV - 2/50 1
12-40626145-C-A c.307C>A p.Gln103Lys Missense 3/51 - 1
12-40626176-G-C c.338G>C p.Gly113Ala Missense 3/51 - 1
12-40629436-T-C c.356T>C p.Leu119Pro Missense 4/51 - 5
12-40629444-C-T c.364C>T p.Leu122Leu Synonymous 4/51 - 1
12-40629457-A-T c.377A>T p.Asn126Ile Missense 4/51 - 1
12-40629498-G-C c.418G>C p.Asp140His Missense 4/51 - 2
12-40629554-A-T c.436+38A>T - IntronicSNV - 4/50 1
12-40631608-G-A c.437-163G>A - IntronicSNV - 4/50 1
12-40631779-A-G c.445A>G p.Thr149Ala Missense 5/51 - 1
12-40631788-A-C c.454A>C p.Ile152Leu Missense 5/51 - 1
12-40631788-A-T c.454A>T p.Ile152Leu Missense 5/51 - 1
12-40631791-T-A c.457T>A p.Leu153Met Missense 5/51 - 6
12-40631791-T-C c.457T>C p.Leu153Leu Synonymous 5/51 - 13
12-40631793-G-A c.459G>A p.Leu153Leu Synonymous 5/51 - 7
12-40631843-T-G c.509T>G p.Phe170Cys Missense 5/51 - 1
12-40631867-A-C c.533A>C p.Lys178Thr Missense 5/51 - 1
12-40631880-A-G c.546A>G p.Lys182Lys Synonymous 5/51 - 1
12-40632099-T-G c.571+194T>G - IntronicSNV - 5/50 3
12-40632100-C-T c.571+195C>T - IntronicSNV - 5/50 2
12-40633314-T-A c.572-971T>A - IntronicSNV - 5/50 2
12-40633314-T-C c.572-971T>C - IntronicSNV - 5/50 2
12-40633314-T-G c.572-971T>G - IntronicSNV - 5/50 2
12-40634158-T-C c.572-127T>C - IntronicSNV - 5/50 1
12-40634203-A-G c.572-82A>G - IntronicSNV - 5/50 1
12-40634290-G-A c.577G>A p.Glu193Lys Missense 6/51 - 6
12-40634345-C-T c.632C>T p.Ala211Val Missense 6/51 - 4
12-40634396-G-C c.683G>C p.Cys228Ser Missense 6/51 - 3
12-40637358-A-T c.713A>T p.Asn238Ile Missense 7/51 - 2
12-40637421-C-A c.776C>A p.Ala259Glu Missense 7/51 - 1
12-40637434-T-TT c.789dup p.Glu264* Nonsense 7/51 - 1
12-40637437-A-ATTTAA c.792_793insTTTAA p.Arg265Phefs*7 Frameshift 7/51 - 1
12-40637438-AGA-TGT c.793_795delinsTGT p.Arg265Cys Missense 7/51 - 1
12-40637470-T-C c.825T>C p.His275His Synonymous 7/51 - 2
12-40639561-A-G c.838+2078A>G - IntronicSNV - 7/50 1
12-40639561-A-T c.838+2078A>T - IntronicSNV - 7/50 1
12-40640626-A-G c.839-3002A>G - IntronicSNV - 7/50 1
12-40641692-A-G c.839-1936A>G - IntronicSNV - 7/50 3
12-40643468-C-T c.839-160C>T - IntronicSNV - 7/50 1
12-40643656-C-T c.867C>T p.Asn289Asn Synonymous 8/51 - 1
12-40643683-T-C c.894T>C p.Ala298Ala Synonymous 8/51 - 1
12-40643725-G-A c.936G>A p.Ala312Ala Synonymous 8/51 - 1
12-40643725-G-T c.936G>T p.Ala312Ala Synonymous 8/51 - 1
12-40644874-C-A c.959-160C>A - IntronicSNV - 8/50 1
12-40644874-C-T c.959-160C>T - IntronicSNV - 8/50 1
12-40645075-G-A c.1000G>A p.Glu334Lys Missense 9/51 - 6
12-40645114-TT-CC c.1039_1040delinsCC p.Leu347Pro Missense 9/51 - 1
12-40645150-T-A c.1075T>A p.Trp359Arg Missense 9/51 - 1
12-40645150-T-C c.1075T>C p.Trp359Arg Missense 9/51 - 1
12-40645163-A-G c.1088A>G p.Asn363Ser Missense 9/51 - 1
12-40645171-G-A c.1096G>A p.Val366Met Missense 9/51 - 1
12-40645257-C-A c.1102-10C>A - IntronicSNV - 9/50 2
12-40645282-GCA-TTT c.1117_1119delinsTTT p.Ala373Phe Missense 10/51 - 1
12-40645340-GAT-G c.1175_1176del p.Asp392Glyfs*7 Frameshift 10/51 - 1
12-40645596-A-G c.1181+250A>G - IntronicSNV - 10/50 1
12-40645630-G-A c.1181+284G>A - IntronicSNV - 10/50 7
12-40646785-G-A c.1255G>A p.Ala419Thr Missense 11/51 - 1
12-40646786-C-T c.1256C>T p.Ala419Val Missense 11/51 - 19
12-40646818-G-A c.1288G>A p.Val430Ile Missense 11/51 - 1
12-40646948-G-A c.1288+130G>A - IntronicSNV - 11/50 1
12-40646982-T-G c.1288+164T>G - IntronicSNV - 11/50 1
12-40649888-G-A c.1289-1162G>A - IntronicSNV - 11/50 1
12-40650502-G-A c.1289-548G>A - IntronicSNV - 11/50 2
12-40651070-TT-CC c.1309_1310delinsCC p.Leu437Pro Missense 12/51 - 2
12-40651097-T-A c.1336T>A p.Leu446Met Missense 12/51 - 1
12-40651104-T-C c.1343T>C p.Leu448Ser Missense 12/51 - 1
12-40651127-C-T c.1366C>T p.Pro456Ser Missense 12/51 - 1
12-40651144-T-C c.1383T>C p.Ser461Ser Synonymous 12/51 - 1
12-40651169-T-C c.1408T>C p.Phe470Leu Missense 12/51 - 1
12-40651171-T-A c.1410T>A p.Phe470Leu Missense 12/51 - 1
12-40651171-T-G c.1410T>G p.Phe470Leu Missense 12/51 - 1
12-40652394-A-G c.1419-888A>G - IntronicSNV - 12/50 1
12-40652520-T-C c.1419-762T>C - IntronicSNV - 12/50 3
12-40653327-A-T c.1464A>T p.Leu488Leu Synonymous 13/51 - 1
12-40653407-G-GG c.1543+1dup - SpliceDonorInsertion 13/51 - 1
12-40653510-G-A c.1543+104G>A - IntronicSNV - 13/50 3
12-40657225-G-A c.1544-366G>A - IntronicSNV - 13/50 1
12-40657537-A-G c.1544-54A>G - IntronicSNV - 13/50 1
12-40657537-A-T c.1544-54A>T - IntronicSNV - 13/50 1
12-40657608-A-G c.1561A>G p.Arg521Gly Missense 14/51 - 2
12-40657677-AA-GT c.1630_1631delinsGT p.Lys544Val Missense 14/51 - 1
12-40657677-A-G c.1630A>G p.Lys544Glu Missense 14/51 - 3
12-40657700-C-A c.1653C>A p.Asn551Lys Missense 14/51 - 34
12-40657700-C-G c.1653C>G p.Asn551Lys Missense 14/51 - 36
12-40657704-GG-G c.1656+1del - Frameshift - 14/50 1
12-40657771-C-A c.1656+68C>A - IntronicSNV - 14/50 1
12-40657771-C-G c.1656+68C>G - IntronicSNV - 14/50 1
12-40657771-C-T c.1656+68C>T - IntronicSNV - 14/50 1
12-40661403-A-C c.1656+3700A>C - IntronicSNV - 14/50 2
12-40661403-A-T c.1656+3700A>T - IntronicSNV - 14/50 2
12-40663596-G-T c.1657-4789G>T - IntronicSNV - 14/50 2
12-40664643-T-A c.1657-3742T>A - IntronicSNV - 14/50 1
12-40665227-G-A c.1657-3158G>A - IntronicSNV - 14/50 1
12-40665227-G-C c.1657-3158G>C - IntronicSNV - 14/50 1
12-40666760-A-T c.1657-1625A>T - IntronicSNV - 14/50 1
12-40666875-C-A c.1657-1510C>A - IntronicSNV - 14/50 1
12-40666875-C-G c.1657-1510C>G - IntronicSNV - 14/50 1
12-40666875-C-T c.1657-1510C>T - IntronicSNV - 14/50 1
12-40668396-T-C c.1668T>C p.Asn556Asn Synonymous 15/51 - 1
12-40668402-G-A c.1674G>A p.Gly558Gly Synonymous 15/51 - 1
12-40668461-A-T c.1733A>T p.Glu578Val Missense 15/51 - 1
12-40668511-A-T c.1783A>T p.Met595Leu Missense 15/51 - 1
12-40668701-A-G c.1847A>G p.Lys616Arg Missense 16/51 - 1
12-40668752-C-T c.1898C>T p.Ser633Phe Missense 16/51 - 1
12-40669939-T-C c.1941+1144T>C - IntronicSNV - 16/50 1
12-40670394-G-A c.1942-1296G>A - IntronicSNV - 16/50 1
12-40670801-C-T c.1942-889C>T - IntronicSNV - 16/50 1
12-40670998-C-A c.1942-692C>A - IntronicSNV - 16/50 5
12-40671735-T-C c.1987T>C p.Ser663Pro Missense 17/51 - 1
12-40671747-G-A c.1999G>A p.Val667Met Missense 17/51 - 1
12-40671770-A-C c.2022A>C p.Val674Val Synonymous 17/51 - 2
12-40671804-C-T c.2056C>T p.Gln686* Nonsense 17/51 - 1
12-40671943-C-T c.2121C>T p.Tyr707Tyr Synonymous 18/51 - 1
12-40671951-A-AA c.2129dup p.Asn710Lysfs*9 Frameshift 18/51 - 1
12-40671956-A-G c.2134A>G p.Met712Val Missense 18/51 - 4
12-40671969-C-T c.2147C>T p.Ala716Val Missense 18/51 - 2
12-40671989-A-G c.2167A>G p.Ile723Val Missense 18/51 - 8
12-40672001-TG-GA c.2179_2180delinsGA p.Cys727Asp Missense 18/51 - 1
12-40672004-TTG-GAC c.2182_2184delinsGAC p.Leu728Asp Missense 18/51 - 3
12-40672007-CT-GA c.2185_2186delinsGA p.Leu729Asp Missense 18/51 - 2
12-40676200-G-T c.2242-1477G>T - IntronicSNV - 18/50 2
12-40677029-A-C c.2242-648A>C - IntronicSNV - 18/50 3
12-40677699-C-T c.2264C>T p.Pro755Leu Missense 19/51 - 9
12-40677710-G-T c.2275G>T p.Glu759* Nonsense 19/51 - 1
12-40677713-CT-GA c.2278_2279delinsGA p.Leu760Asp Missense 19/51 - 1
12-40677716-TTA-GAC c.2281_2283delinsGAC p.Leu761Asp Missense 19/51 - 1
12-40677719-CTG-GAC c.2284_2286delinsGAC p.Leu762Asp Missense 19/51 - 1
12-40677735-G-A c.2300G>A p.Arg767His Missense 19/51 - 1
12-40677749-C-T c.2314C>T p.Arg772* Nonsense 19/51 - 2
12-40677800-TTG-GAC c.2365_2367delinsGAC p.Leu789Asp Missense 19/51 - 1
12-40677803-CT-GA c.2368_2369delinsGA p.Leu790Asp Missense 19/51 - 1
12-40677806-TTA-GAC c.2371_2373delinsGAC p.Leu791Asp Missense 19/51 - 1
12-40677813-G-T c.2378G>T p.Arg793Met Missense 19/51 - 19
12-40677817-G-A c.2382G>A p.Leu794Leu Synonymous 19/51 - 1
12-40677863-A-G c.2428A>G p.Ile810Val Missense 19/51 - 1
12-40677916-T-C c.2481T>C p.Ser827Ser Synonymous 19/51 - 1
12-40677934-CAA-C c.2499_2500del p.Asn834Tyrfs*32 SpliceDonorDeletion 19/51 - 1
12-40677940-AGTAA-A c.2500+5_2500+8del - IntronicDeletion - 19/50 1
12-40680941-A-G c.2501-212A>G - IntronicSNV - 19/50 1
12-40681162-C-T c.2510C>T p.Ser837Phe Missense 20/51 - 1
12-40681263-A-G c.2611A>G p.Lys871Glu Missense 20/51 - 2
12-40681305-A-T c.2653A>T p.Ser885Cys Missense 20/51 - 1
12-40681306-G-A c.2654G>A p.Ser885Asn Missense 20/51 - 1
12-40686038-G-T c.2690-1309G>T - IntronicSNV - 20/50 1
12-40687370-AAA-TGG c.2713_2715delinsTGG p.Lys905Trp Missense 21/51 - 1
12-40687379-TCT-GAG c.2722_2724delinsGAG p.Ser908Glu Missense 21/51 - 2
12-40687379-T-G c.2722T>G p.Ser908Ala Missense 21/51 - 2
12-40687385-T-G c.2728T>G p.Ser910Ala Missense 21/51 - 13
12-40687409-C-T c.2752C>T p.Arg918* Nonsense 21/51 - 1
12-40687426-G-C c.2769G>C p.Gln923His Missense 21/51 - 2
12-40687446-A-G c.2789A>G p.Gln930Arg Missense 21/51 - 4
12-40687460-TCC-GAG c.2803_2805delinsGAG p.Ser935Glu Missense 21/51 - 2
12-40687460-T-G c.2803T>G p.Ser935Ala Missense 21/51 - 12
12-40688081-A-G c.2809-566A>G - IntronicSNV - 21/50 2
12-40688668-G-T c.2830G>T p.Asp944Tyr Missense 22/51 - 1
12-40688695-T-C c.2857T>C p.Leu953Leu Synonymous 22/51 - 13
12-40688697-A-G c.2859A>G p.Leu953Leu Synonymous 22/51 - 6
12-40688701-T-G c.2863T>G p.Ser955Ala Missense 22/51 - 2
12-40689267-AGC-GAG c.2917_2919delinsGAG p.Ser973Glu Missense 23/51 - 2
12-40689267-AG-GC c.2917_2918delinsGC p.Ser973Ala Missense 23/51 - 3
12-40689268-G-A c.2918G>A p.Ser973Asn Missense 23/51 - 2
12-40689336-G-T c.2986G>T p.Asp996Tyr Missense 23/51 - 1
12-40689368-A-G c.3018A>G p.Ile1006Met Missense 23/51 - 1
12-40689371-T-C c.3021T>C p.Ser1007Ser Synonymous 23/51 - 1
12-40689437-G-T c.3087G>T p.Gln1029His Missense 23/51 - 1
12-40689588-C-T c.3096+142C>T - IntronicSNV - 23/50 1
12-40692148-G-A c.3200G>A p.Arg1067Gln Missense 24/51 - 6
12-40692235-C-G c.3287C>G p.Ser1096Cys Missense 24/51 - 4
12-40692281-G-T c.3333G>T p.Gln1111His Missense 24/51 - 5
12-40692290-A-G c.3342A>G p.Leu1114Leu Synonymous 24/51 - 10
12-40692927-A-G c.3364A>G p.Ile1122Val Missense 25/51 - 25
12-40692953-A-C c.3390A>C p.Glu1130Asp Missense 25/51 - 1
12-40692986-T-A c.3423T>A p.Ile1141Ile Synonymous 25/51 - 1
12-40692986-T-C c.3423T>C p.Ile1141Ile Synonymous 25/51 - 1
12-40693014-G-A c.3451G>A p.Ala1151Thr Missense 25/51 - 3
12-40693018-G-T c.3455G>T p.Cys1152Phe Missense 25/51 - 1
12-40693057-T-C c.3494T>C p.Leu1165Pro Missense 25/51 - 10
12-40693806-G-T c.3496+747G>T - IntronicSNV - 25/50 1
12-40696632-TT-AC c.3538_3539delinsAC p.Leu1180Thr Missense 26/51 - 2
12-40696668-A-G c.3574A>G p.Ile1192Val Missense 26/51 - 3
12-40697434-G-A c.3591-316G>A - IntronicSNV - 26/50 2
12-40697796-G-A c.3637G>A p.Gly1213Ser Missense 27/51 - 1
12-40697802-G-A c.3643G>A p.Ala1215Thr Missense 27/51 - 1
12-40697806-A-G c.3647A>G p.His1216Arg Missense 27/51 - 1
12-40697842-G-C c.3683G>C p.Ser1228Thr Missense 27/51 - 5
12-40697842-G-T c.3683G>T p.Ser1228Ile Missense 27/51 - 1
12-40698686-A-G c.3777+750A>G - IntronicSNV - 27/50 4
12-40699593-C-G c.3784C>G p.Pro1262Ala Missense 28/51 - 2
12-40699615-A-G c.3806A>G p.Asn1269Ser Missense 28/51 - 1
12-40699683-AG-GA c.3874_3875delinsGA p.Ser1292Asp Missense 28/51 - 1
12-40699683-AG-GC c.3874_3875delinsGC p.Ser1292Ala Missense 28/51 - 10
12-40699692-T-C c.3883T>C p.Trp1295Arg Missense 28/51 - 1
12-40699748-T-A c.3939T>A p.Cys1313* Nonsense 28/51 - 2
12-40699757-A-C c.3948A>C p.Lys1316Asn Missense 28/51 - 1
12-40699757-A-T c.3948A>T p.Lys1316Asn Missense 28/51 - 1
12-40702164-C-T c.3960-105C>T - IntronicSNV - 28/50 1
12-40702269-G-C c.3960G>C p.Arg1320Ser Missense 29/51 - 1
12-40702269-G-T c.3960G>T p.Arg1320Ser Missense 29/51 - 1
12-40702283-G-A c.3974G>A p.Arg1325Gln Missense 29/51 - 2
12-40702309-C-T c.4000C>T p.Arg1334* Nonsense 29/51 - 1
12-40702315-AAA-TGT c.4006_4008delinsTGT p.Lys1336Cys Missense 29/51 - 1
12-40702336-AC-GA c.4027_4028delinsGA p.Thr1343Asp Missense 29/51 - 1
12-40702336-AC-GG c.4027_4028delinsGG p.Thr1343Gly Missense 29/51 - 8
12-40702336-AC-GT c.4027_4028inv p.Thr1343Val Missense 29/51 - 4
12-40702336-A-G c.4027A>G p.Thr1343Ala Missense 29/51 - 2
12-40702339-G-A c.4030G>A p.Gly1344Arg Missense 29/51 - 1
12-40702348-AA-GC c.4039_4040delinsGC p.Lys1347Ala Missense 29/51 - 44
12-40702350-A-C c.4041A>C p.Lys1347Asn Missense 29/51 - 1
12-40702350-A-T c.4041A>T p.Lys1347Asn Missense 29/51 - 1
12-40702351-AC-GA c.4042_4043delinsGA p.Thr1348Asp Missense 29/51 - 1
12-40702351-A-G c.4042A>G p.Thr1348Ala Missense 29/51 - 3
12-40702352-C-A c.4043C>A p.Thr1348Asn Missense 29/51 - 40
12-40702354-AC-GA c.4045_4046delinsGA p.Thr1349Asp Missense 29/51 - 1
12-40702354-A-G c.4045A>G p.Thr1349Ala Missense 29/51 - 1
12-40702378-AC-GA c.4069_4070delinsGA p.Thr1357Asp Missense 29/51 - 1
12-40702378-A-G c.4069A>G p.Thr1357Ala Missense 29/51 - 2
12-40702420-A-G c.4111A>G p.Ile1371Val Missense 29/51 - 31
12-40702434-C-A c.4125C>A p.Asp1375Glu Missense 29/51 - 1
12-40702474-G-A c.4165G>A p.Val1389Ile Missense 29/51 - 1
12-40702911-G-A c.4193G>A p.Arg1398His Missense 30/51 - 50
12-40702911-G-T c.4193G>T p.Arg1398Leu Missense 30/51 - 22
12-40702911-GT-AA c.4193_4194delinsAA p.Arg1398Gln Missense 30/51 - 9
12-40702925-AG-GC c.4207_4208delinsGC p.Ser1403Ala Missense 30/51 - 1
12-40702946-ACG-GAC c.4228_4230delinsGAC p.Thr1410Asp Missense 30/51 - 2
12-40702946-A-G c.4228A>G p.Thr1410Ala Missense 30/51 - 2
12-40702947-C-T c.4229C>T p.Thr1410Met Missense 30/51 - 4
12-40702952-C-T c.4234C>T p.Arg1412* Nonsense 30/51 - 1
12-40702955-G-A c.4237G>A p.Ala1413Thr Missense 30/51 - 2
12-40702974-A-G c.4256A>G p.Tyr1419Cys Missense 30/51 - 1
12-40702976-G-A c.4258G>A p.Asp1420Asn Missense 30/51 - 1
12-40702987-G-A c.4269G>A p.Lys1423Lys Synonymous 30/51 - 16
12-40703008-C-T c.4290C>T p.Ala1430Ala Synonymous 30/51 - 2
12-40703027-AA-TT c.4309_4310inv p.Asn1437Phe Missense 30/51 - 1
12-40703027-A-C c.4309A>C p.Asn1437His Missense 30/51 - 94
12-40703027-A-T c.4309A>T p.Asn1437Tyr Missense 30/51 - 1
12-40703028-A-G c.4310A>G p.Asn1437Ser Missense 30/51 - 4
12-40703047-CT-C c.4317+12del - IntronicDeletion - 30/50 1
12-40703152-C-A c.4317+117C>A - IntronicSNV - 30/50 1
12-40704236-C-A c.4321C>A p.Arg1441Ser Missense 31/51 - 3
12-40704236-C-G c.4321C>G p.Arg1441Gly Missense 31/51 - 365
12-40704236-CGC-AAG c.4321_4323delinsAAG p.Arg1441Lys Missense 31/51 - 1
12-40704236-CGC-TGA c.4321_4323delinsTGA p.Arg1441* Nonsense 31/51 - 1
12-40704236-CG-TA c.4321_4322delinsTA p.Arg1441Tyr Missense 31/51 - 1
12-40704236-C-T c.4321C>T p.Arg1441Cys Missense 31/51 - 530
12-40704237-G-A c.4322G>A p.Arg1441His Missense 31/51 - 111
12-40704238-C-T c.4323C>T p.Arg1441Arg Synonymous 31/51 - 4
12-40704239-G-C c.4324G>C p.Ala1442Pro Missense 31/51 - 7
12-40704242-T-G c.4327T>G p.Ser1443Ala Missense 31/51 - 1
12-40704245-T-G c.4330T>G p.Ser1444Ala Missense 31/51 - 1
12-40704252-C-T c.4337C>T p.Pro1446Leu Missense 31/51 - 2
12-40704263-G-A c.4348G>A p.Val1450Ile Missense 31/51 - 3
12-40704270-C-T c.4355C>T p.Thr1452Ile Missense 31/51 - 1
12-40704273-A-G c.4358A>G p.His1453Arg Missense 31/51 - 1
12-40704304-A-AA c.4389dup p.Ala1464Serfs*5 Frameshift 31/51 - 1
12-40704306-C-G c.4391C>G p.Ala1464Gly Missense 31/51 - 2
12-40704317-A-G c.4402A>G p.Lys1468Glu Missense 31/51 - 2
12-40704362-C-A c.4447C>A p.Arg1483Arg Synonymous 31/51 - 1
12-40704362-C-T c.4447C>T p.Arg1483* Nonsense 31/51 - 3
12-40704363-G-A c.4448G>A p.Arg1483Gln Missense 31/51 - 2
12-40704383-G-A c.4468G>A p.Ala1490Thr Missense 31/51 - 1
12-40704386-AC-GA c.4471_4472delinsGA p.Thr1491Asp Missense 31/51 - 4
12-40704386-A-G c.4471A>G p.Thr1491Ala Missense 31/51 - 2
12-40704422-AC-GA c.4507_4508delinsGA p.Thr1503Asp Missense 31/51 - 2
12-40704422-A-G c.4507A>G p.Thr1503Ala Missense 31/51 - 1
12-40704454-A-G c.4536+3A>G - IntronicSNV - 31/50 1
12-40706531-G-A c.4537-1243G>A - IntronicSNV - 31/50 1
12-40707278-C-T c.4537-496C>T - IntronicSNV - 31/50 2
12-40707778-G-A c.4541G>A p.Arg1514Gln Missense 32/51 - 17
12-40707861-C-T c.4624C>T p.Pro1542Ser Missense 32/51 - 9
12-40707891-C-T c.4654C>T p.Arg1552* Nonsense 32/51 - 1
12-40707903-C-A c.4666C>A p.Leu1556Ile Missense 32/51 - 1
12-40708892-T-C c.4739-122T>C - IntronicSNV - 32/50 1
12-40709068-T-A c.4793T>A p.Val1598Glu Missense 33/51 - 1
12-40709413-T-A c.4827+311T>A - IntronicSNV - 33/50 1
12-40713759-T-C c.4828-31T>C - IntronicSNV - 33/50 5
12-40713800-T-C c.4838T>C p.Val1613Ala Missense 34/51 - 2
12-40713834-C-A c.4872C>A p.Gly1624Gly Synonymous 34/51 - 14
12-40713834-C-G c.4872C>G p.Gly1624Gly Synonymous 34/51 - 7
12-40713834-C-T c.4872C>T p.Gly1624Gly Synonymous 34/51 - 7
12-40713841-TCG-GAC c.4879_4881delinsGAC p.Ser1627Asp Missense 34/51 - 1
12-40713841-T-G c.4879T>G p.Ser1627Ala Missense 34/51 - 1
12-40713842-C-T c.4880C>T p.Ser1627Leu Missense 34/51 - 1
12-40713845-G-A c.4883G>A p.Arg1628His Missense 34/51 - 4
12-40713845-G-C c.4883G>C p.Arg1628Pro Missense 34/51 - 113
12-40713845-G-T c.4883G>T p.Arg1628Leu Missense 34/51 - 3
12-40713856-G-C c.4894G>C p.Glu1632Gln Missense 34/51 - 1
12-40713873-A-G c.4911A>G p.Lys1637Lys Synonymous 34/51 - 18
12-40713899-T-C c.4937T>C p.Met1646Thr Missense 34/51 - 22
12-40713901-T-A c.4939T>A p.Ser1647Thr Missense 34/51 - 33
12-40713905-A-C c.4943A>C p.Gln1648Pro Missense 34/51 - 1
12-40713908-A-C c.4946A>C p.Tyr1649Ser Missense 34/51 - 1
12-40713921-A-G c.4959A>G p.Leu1653Leu Synonymous 34/51 - 1
12-40714009-A-G c.5015+32A>G - IntronicSNV - 34/50 4
12-40714864-C-A c.5044C>A p.Leu1682Ile Missense 35/51 - 1
12-40714885-G-T c.5065G>T p.Glu1689* Nonsense 35/51 - 1
12-40714897-C-T c.5077C>T p.Arg1693* Nonsense 35/51 - 1
12-40714898-G-A c.5078G>A p.Arg1693Gln Missense 35/51 - 1
12-40714915-TA-GG c.5095_5096delinsGG p.Tyr1699Gly Missense 35/51 - 1
12-40714916-A-G c.5096A>G p.Tyr1699Cys Missense 35/51 - 302
12-40714940-G-A c.5120G>A p.Arg1707Lys Missense 35/51 - 1
12-40714983-A-C c.5163A>C p.Ser1721Ser Synonymous 35/51 - 2
12-40714983-A-G c.5163A>G p.Ser1721Ser Synonymous 35/51 - 2
12-40715013-T-A c.5170+23T>A - IntronicSNV - 35/50 1
12-40715302-G-A c.5170+312G>A - IntronicSNV - 35/50 2
12-40715839-C-A c.5173C>A p.Arg1725Arg Synonymous 36/51 - 1
12-40715839-C-G c.5173C>G p.Arg1725Gly Missense 36/51 - 1
12-40715839-C-T c.5173C>T p.Arg1725* Nonsense 36/51 - 2
12-40715849-G-A c.5183G>A p.Arg1728His Missense 36/51 - 7
12-40715849-G-T c.5183G>T p.Arg1728Leu Missense 36/51 - 4
12-40715947-A-C c.5281A>C p.Ser1761Arg Missense 36/51 - 3
12-40716015-C-A c.5317+32C>A - IntronicSNV - 36/50 1
12-40716015-C-T c.5317+32C>T - IntronicSNV - 36/50 1
12-40716188-G-T c.5385G>T p.Leu1795Phe Missense 37/51 - 8
12-40716215-A-AT c.5412_5413insT p.Glu1805* Nonsense 37/51 - 1
12-40716220-C-T c.5417C>T p.Thr1806Ile Missense 37/51 - 1
12-40716260-T-C c.5457T>C p.Gly1819Gly Synonymous 37/51 - 9
12-40716306-G-T c.5503G>T p.Glu1835* Nonsense 37/51 - 1
12-40716434-A-G c.5509+122A>G - IntronicSNV - 37/50 1
12-40716474-T-C c.5509+162T>C - IntronicSNV - 37/50 1
12-40716694-A-C c.5510-268A>C - IntronicSNV - 37/50 1
12-40716694-A-G c.5510-268A>G - IntronicSNV - 37/50 1
12-40717057-A-G c.5605A>G p.Met1869Val Missense 38/51 - 1
12-40717057-AT-CA c.5605_5606delinsCA p.Met1869Gln Missense 38/51 - 1
12-40717058-T-C c.5606T>C p.Met1869Thr Missense 38/51 - 7
12-40717062-G-C c.5610G>C p.Leu1870Phe Missense 38/51 - 2
12-40717062-G-T c.5610G>T p.Leu1870Phe Missense 38/51 - 2
12-40717115-C-T c.5656+7C>T - IntronicSNV - 38/50 1
12-40717143-G-A c.5656+35G>A - IntronicSNV - 38/50 1
12-40719500-A-C c.5656+2392A>C - IntronicSNV - 38/50 2
12-40719500-A-G c.5656+2392A>G - IntronicSNV - 38/50 2
12-40719500-A-T c.5656+2392A>T - IntronicSNV - 38/50 2
12-40722164-G-A c.5659G>A p.Asp1887Asn Missense 39/51 - 1
12-40722182-G-T c.5677G>T p.Val1893Phe Missense 39/51 - 1
12-40722188-C-T c.5683C>T p.Arg1895* Nonsense 39/51 - 2
12-40722192-C-G c.5687C>G p.Ala1896Gly Missense 39/51 - 1
12-40722215-GC-TT c.5710_5711delinsTT p.Ala1904Phe Missense 39/51 - 1
12-40722221-AA-GC c.5716_5717delinsGC p.Lys1906Ala Missense 39/51 - 6
12-40722222-A-G c.5717A>G p.Lys1906Arg Missense 39/51 - 3
12-40722222-A-T c.5717A>T p.Lys1906Met Missense 39/51 - 55
12-40722223-G-C c.5718G>C p.Lys1906Asn Missense 39/51 - 1
12-40722223-G-T c.5718G>T p.Lys1906Asn Missense 39/51 - 1
12-40722227-T-C c.5722T>C p.Phe1908Leu Missense 39/51 - 1
12-40722229-T-A c.5724T>A p.Phe1908Leu Missense 39/51 - 1
12-40722229-T-G c.5724T>G p.Phe1908Leu Missense 39/51 - 1
12-40722257-AG-GC c.5752_5753delinsGC p.Arg1918Ala Missense 39/51 - 1
12-40722260-CA-GC c.5755_5756delinsGC p.Gln1919Ala Missense 39/51 - 1
12-40723171-C-A c.5757+909C>A - IntronicSNV - 39/50 1
12-40723171-C-T c.5757+909C>T - IntronicSNV - 39/50 1
12-40723900-C-A c.5757+1638C>A - IntronicSNV - 39/50 2
12-40723900-C-T c.5757+1638C>T - IntronicSNV - 39/50 2
12-40724030-C-T c.5757+1768C>T - IntronicSNV - 39/50 1
12-40724581-G-A c.5757+2319G>A - IntronicSNV - 39/50 1
12-40724960-G-A c.5757+2698G>A - IntronicSNV - 39/50 3
12-40724960-G-T c.5757+2698G>T - IntronicSNV - 39/50 3
12-40725928-A-G c.5758-2841A>G - IntronicSNV - 39/50 2
12-40726567-C-G c.5758-2202C>G - IntronicSNV - 39/50 1
12-40727779-T-G c.5758-990T>G - IntronicSNV - 39/50 1
12-40728781-C-T c.5770C>T p.Leu1924Phe Missense 40/51 - 1
12-40728816-G-C c.5805G>C p.Leu1935Phe Missense 40/51 - 1
12-40728816-G-T c.5805G>T p.Leu1935Phe Missense 40/51 - 1
12-40728833-G-A c.5822G>A p.Arg1941His Missense 40/51 - 7
12-40728868-G-C c.5857G>C p.Gly1953Arg Missense 40/51 - 1
12-40728880-C-T c.5869C>T p.Arg1957Cys Missense 40/51 - 1
12-40728881-G-T c.5870G>T p.Arg1957Leu Missense 40/51 - 1
12-40728902-C-T c.5891C>T p.Ala1964Val Missense 40/51 - 1
12-40729007-C-T c.5948+48C>T - IntronicSNV - 40/50 2
12-40730463-C-G c.5948+1504C>G - IntronicSNV - 40/50 3
12-40730463-C-T c.5948+1504C>T - IntronicSNV - 40/50 3
12-40731606-G-A c.5949-2490G>A - IntronicSNV - 40/50 1
12-40732394-T-C c.5949-1702T>C - IntronicSNV - 40/50 3
12-40732730-C-G c.5949-1366C>G - IntronicSNV - 40/50 1
12-40732900-C-A c.5949-1196C>A - IntronicSNV - 40/50 3
12-40734122-A-T c.5975A>T p.Tyr1992Phe Missense 41/51 - 1
12-40734124-C-T c.5977C>T p.Arg1993* Nonsense 41/51 - 2
12-40734127-G-A c.5980G>A p.Asp1994Asn Missense 41/51 - 10
12-40734127-GA-AG c.5980_5981delinsAG p.Asp1994Ser Missense 41/51 - 11
12-40734127-GAC-AAG c.5980_5982delinsAAG p.Asp1994Lys Missense 41/51 - 1
12-40734128-A-C c.5981A>C p.Asp1994Ala Missense 41/51 - 67
12-40734163-T-C c.6016T>C p.Tyr2006His Missense 41/51 - 2
12-40734168-C-A c.6021C>A p.Pro2007Pro Synonymous 41/51 - 1
12-40734168-C-G c.6021C>G p.Pro2007Pro Synonymous 41/51 - 1
12-40734168-C-T c.6021C>T p.Pro2007Pro Synonymous 41/51 - 1
12-40734181-AT-GC c.6034_6035delinsGC p.Ile2012Ala Missense 41/51 - 1
12-40734182-T-C c.6035T>C p.Ile2012Thr Missense 41/51 - 37
12-40734193-G-A c.6046G>A p.Ala2016Thr Missense 41/51 - 38
12-40734197-A-C c.6050A>C p.Asp2017Ala Missense 41/51 - 26
12-40734200-A-T c.6053A>T p.Tyr2018Phe Missense 41/51 - 2
12-40734201-C-T c.6054C>T p.Tyr2018Tyr Synonymous 41/51 - 1
12-40734202-G-A c.6055G>A p.Gly2019Ser Missense 41/51 - 1460
12-40734202-GGC-AAG c.6055_6057delinsAAG p.Gly2019Lys Missense 41/51 - 1
12-40734203-G-A c.6056G>A p.Gly2019Asp Missense 41/51 - 1
12-40734203-G-C c.6056G>C p.Gly2019Ala Missense 41/51 - 2
12-40734204-C-A c.6057C>A p.Gly2019Gly Synonymous 41/51 - 1
12-40734204-C-G c.6057C>G p.Gly2019Gly Synonymous 41/51 - 1
12-40734204-C-T c.6057C>T p.Gly2019Gly Synonymous 41/51 - 1
12-40734205-A-C c.6058A>C p.Ile2020Leu Missense 41/51 - 2
12-40734206-T-C c.6059T>C p.Ile2020Thr Missense 41/51 - 306
12-40734238-ACA-GAC c.6091_6093delinsGAC p.Thr2031Asp Missense 41/51 - 1
12-40734238-AC-GA c.6091_6092delinsGA p.Thr2031Glu Missense 41/51 - 1
12-40734238-A-G c.6091A>G p.Thr2031Ala Missense 41/51 - 3
12-40734238-A-T c.6091A>T p.Thr2031Ser Missense 41/51 - 12
12-40734241-TCA-GAC c.6094_6096delinsGAC p.Ser2032Asp Missense 41/51 - 2
12-40734241-TC-GA c.6094_6095inv p.Ser2032Glu Missense 41/51 - 3
12-40734241-T-G c.6094T>G p.Ser2032Ala Missense 41/51 - 5
12-40734250-ACA-GAC c.6103_6105delinsGAC p.Thr2035Asp Missense 41/51 - 1
12-40734250-AC-GA c.6103_6104delinsGA p.Thr2035Glu Missense 41/51 - 2
12-40734250-A-G c.6103A>G p.Thr2035Ala Missense 41/51 - 7
12-40734583-T-C c.6109+327T>C - IntronicSNV - 41/50 1
12-40735939-G-A c.6109+1683G>A - IntronicSNV - 41/50 1
12-40739493-G-A c.6110-1062G>A - IntronicSNV - 41/50 1
12-40739493-G-T c.6110-1062G>T - IntronicSNV - 41/50 1
12-40740365-G-T c.6110-190G>T - IntronicSNV - 41/50 1
12-40740632-ACTCTA-A c.6187_6191del p.Leu2063* Frameshift 42/51 - 1
12-40740632-CTC-TAA c.6187_6189delinsTAA p.Leu2063* Nonsense 42/51 - 2
12-40740686-A-G c.6241A>G p.Asn2081Asp Missense 42/51 - 26
12-40740686-A-T c.6241A>T p.Asn2081Tyr Missense 42/51 - 3
12-40742254-G-A c.6324G>A p.Glu2108Glu Synonymous 43/51 - 12
12-40742286-C-T c.6356C>T p.Pro2119Leu Missense 43/51 - 1
12-40742363-G-A c.6381+52G>A - IntronicSNV - 43/50 3
12-40742363-G-C c.6381+52G>C - IntronicSNV - 43/50 3
12-40744086-A-T c.6382-1255A>T - IntronicSNV - 43/50 1
12-40744775-A-C c.6382-566A>C - IntronicSNV - 43/50 2
12-40744808-G-A c.6382-533G>A - IntronicSNV - 43/50 1
12-40745181-T-C c.6382-160T>C - IntronicSNV - 43/50 2
12-40745381-C-T c.6422C>T p.Thr2141Met Missense 44/51 - 3
12-40745387-G-A c.6428G>A p.Arg2143His Missense 44/51 - 3
12-40745407-G-A c.6448G>A p.Val2150Ile Missense 44/51 - 1
12-40745469-C-A c.6510C>A p.Gly2170Gly Synonymous 44/51 - 1
12-40745482-G-C c.6523G>C p.Asp2175His Missense 44/51 - 1
12-40745525-A-G c.6566A>G p.Tyr2189Cys Missense 44/51 - 5
12-40746849-C-A c.6577-1252C>A - IntronicSNV - 44/50 1
12-40746849-C-G c.6577-1252C>G - IntronicSNV - 44/50 1
12-40746849-C-T c.6577-1252C>T - IntronicSNV - 44/50 1
12-40747059-C-T c.6577-1042C>T - IntronicSNV - 44/50 1
12-40748190-T-A c.6666T>A p.Gly2222Gly Synonymous 45/51 - 1
12-40748395-G-A c.6770+101G>A - IntronicSNV - 45/50 1
12-40748395-G-T c.6770+101G>T - IntronicSNV - 45/50 1
12-40749928-A-T c.6782A>T p.Asn2261Ile Missense 46/51 - 1
12-40750471-G-A c.6843+482G>A - IntronicSNV - 46/50 2
12-40753140-A-G c.6922A>G p.Asn2308Asp Missense 47/51 - 1
12-40753147-C-T c.6929C>T p.Thr2310Met Missense 47/51 - 1
12-40753156-A-G c.6938A>G p.Asn2313Ser Missense 47/51 - 1
12-40756207-T-C c.7029-997T>C - IntronicSNV - 47/50 1
12-40756472-C-A c.7029-732C>A - IntronicSNV - 47/50 3
12-40756472-C-T c.7029-732C>T - IntronicSNV - 47/50 3
12-40757205-TT-GC c.7030_7031delinsGC p.Phe2344Ala Missense 48/51 - 1
12-40757208-TC-GA c.7033_7034inv p.Ser2345Asp Missense 48/51 - 1
12-40757211-TA-GC c.7036_7037delinsGC p.Tyr2346Ala Missense 48/51 - 1
12-40757224-G-T c.7049G>T p.Ser2350Ile Missense 48/51 - 1
12-40757241-A-AGT c.7066_7067insGT p.Thr2356Serfs*5 Frameshift 48/51 - 1
12-40757241-AC-CT c.7066_7067delinsCT p.Thr2356Leu Missense 48/51 - 1
12-40757242-C-T c.7067C>T p.Thr2356Ile Missense 48/51 - 7
12-40757328-G-A c.7153G>A p.Gly2385Arg Missense 48/51 - 207
12-40757329-G-A c.7154G>A p.Gly2385Glu Missense 48/51 - 2
12-40757329-G-C c.7154G>C p.Gly2385Ala Missense 48/51 - 1
12-40757330-A-G c.7155A>G p.Gly2385Gly Synonymous 48/51 - 8
12-40757337-GAC-AAG c.7162_7164delinsAAG p.Asp2388Lys Missense 48/51 - 1
12-40757343-G-A c.7168G>A p.Val2390Met Missense 48/51 - 6
12-40757346-C-G c.7171C>G p.His2391Asp Missense 48/51 - 1
12-40757355-AG-GA c.7180_7181delinsGA p.Arg2394Glu Missense 48/51 - 1
12-40758045-T-C c.7182-599T>C - IntronicSNV - 48/50 2
12-40758045-T-G c.7182-599T>G - IntronicSNV - 48/50 2
12-40758291-G-A c.7182-353G>A - IntronicSNV - 48/50 1
12-40758645-G-A c.7183G>A p.Glu2395Lys Missense 49/51 - 2
12-40758645-GA-AG c.7183_7184delinsAG p.Glu2395Arg Missense 49/51 - 1
12-40758652-T-C c.7190T>C p.Met2397Thr Missense 49/51 - 33
12-40758669-G-T c.7207G>T p.Glu2403* Nonsense 49/51 - 1
12-40758684-AT-GA c.7222_7223delinsGA p.Met2408Glu Missense 49/51 - 1
12-40758684-AT-GC c.7222_7223delinsGC p.Met2408Ala Missense 49/51 - 1
12-40758686-G-A c.7224G>A p.Met2408Ile Missense 49/51 - 1
12-40758687-T-G c.7225T>G p.Ser2409Ala Missense 49/51 - 1
12-40758758-C-A c.7296C>A p.Gly2432Gly Synonymous 49/51 - 1
12-40758758-C-G c.7296C>G p.Gly2432Gly Synonymous 49/51 - 1
12-40758758-C-T c.7296C>T p.Gly2432Gly Synonymous 49/51 - 1
12-40758777-C-A c.7315C>A p.Leu2439Ile Missense 49/51 - 1
12-40758823-C-A c.7361C>A p.Ser2454* Nonsense 49/51 - 1
12-40758823-C-T c.7361C>T p.Ser2454Leu Missense 49/51 - 1
12-40758844-C-T c.7382C>T p.Ala2461Val Missense 49/51 - 1
12-40759848-T-A c.7391-960T>A - IntronicSNV - 49/50 1
12-40760631-A-G c.7391-177A>G - IntronicSNV - 49/50 1
12-40760764-T-C c.7391-44T>C - IntronicSNV - 49/50 1
12-40760814-T-A c.7397T>A p.Leu2466His Missense 50/51 - 3
12-40760852-A-G c.7435A>G p.Asn2479Asp Missense 50/51 - 1
12-40761315-A-T c.7463-131A>T - IntronicSNV - 50/50 1
12-40761358-A-G c.7463-88A>G - IntronicSNV - 50/50 1
12-40761358-A-T c.7463-88A>T - IntronicSNV - 50/50 1
12-40761550-C-T c.7567C>T p.Arg2523* Nonsense 51/51 - 1
12-40761553-ACA-TGT c.7570_7572inv p.Thr2524Cys Missense 51/51 - 1
12-40761951-C-T c.*384C>T - 3-UTRSNV 51/51 - 1