RYR1 ryanodine receptor 1

Canonical transcript: NM_000540

660 unique variant annotations were identified in 237 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-38924507-T-G c.38T>G p.Leu13Arg Missense 1/106 - 1
19-38924512-A-G c.43A>G p.Thr15Ala Missense 1/106 - 2
19-38931390-T-C c.51T>C p.Asp17Asp Synonymous 2/106 - 1
19-38931413-C-A c.74C>A p.Ala25Asp Missense 2/106 - 1
19-38931442-T-C c.103T>C p.Cys35Arg Missense 2/106 - 10
19-38931451-GC-TG c.112_113delinsTG p.Ala38Cys Missense 2/106 - 1
19-38931458-G-C c.119G>C p.Gly40Ala Missense 2/106 - 1
19-38931469-C-T c.130C>T p.Arg44Cys Missense 2/106 - 3
19-38931493-AG-GC c.154_155delinsGC p.Ser52Ala Missense 2/106 - 1
19-38931497-A-T c.158A>T p.Asn53Ile Missense 2/106 - 1
19-38933001-G-T c.178G>T p.Asp60Tyr Missense 3/106 - 1
19-38933001-G-A c.178G>A p.Asp60Asn Missense 3/106 - 1
19-38933002-A-G c.179A>G p.Asp60Gly Missense 3/106 - 1
19-38933031-C-T c.208C>T p.Gln70* Nonsense 3/106 - 1
19-38933035-C-A c.212C>A p.Ser71Tyr Missense 3/106 - 3
19-38933067-GC-TG c.244_245delinsTG p.Ala82Cys Missense 3/106 - 1
19-38933074-C-T c.251C>T p.Thr84Met Missense 3/106 - 2
19-38933088-G-A c.265G>A p.Val89Met Missense 3/106 - 1
19-38934252-C-T c.325C>T p.Arg109Trp Missense 4/106 - 9
19-38934428-A-G c.416A>G p.Asp139Gly Missense 5/106 - 1
19-38934788-G-A c.425-1G>A - IntronicSNV - 5/105 1
19-38934819-C-A c.455C>A p.Ala152Asp Missense 6/106 - 1
19-38934827-C-A c.463C>A p.Gln155Lys Missense 6/106 - 1
19-38934828-A-C c.464A>C p.Gln155Pro Missense 6/106 - 1
19-38934831-G-A c.467G>A p.Arg156Lys Missense 6/106 - 1
19-38934843-A-G c.479A>G p.Glu160Gly Missense 6/106 - 1
19-38934851-C-T c.487C>T p.Arg163Cys Missense 6/106 - 40
19-38934852-G-T c.488G>T p.Arg163Leu Missense 6/106 - 6
19-38934854-G-T c.490G>T p.Val164Phe Missense 6/106 - 1
19-38934863-G-A c.499G>A p.Asp167Asn Missense 6/106 - 1
19-38934864-A-G c.500A>G p.Asp167Gly Missense 6/106 - 1
19-38934893-C-T c.529C>T p.Arg177Cys Missense 6/106 - 4
19-38935236-G-A c.550G>A p.Ala184Thr Missense 7/106 - 1
19-38935278-C-T c.592C>T p.Leu198Leu Synonymous 7/106 - 2
19-38935280-A-C c.594A>C p.Leu198Leu Synonymous 7/106 - 2
19-38935280-A-T c.594A>T p.Leu198Leu Synonymous 7/106 - 2
19-38935280-A-G c.594A>G p.Leu198Leu Synonymous 7/106 - 3
19-38935287-AT-TA c.601_602delinsTA p.Met201* Nonsense 7/106 - 1
19-38935311-G-A c.625G>A p.Glu209Lys Missense 7/106 - 1
19-38935318-G-A c.631+1G>A - IntronicSNV - 7/105 1
19-38937121-C-T c.641C>T p.Thr214Met Missense 8/106 - 5
19-38937124-G-A c.644G>A p.Gly215Glu Missense 8/106 - 1
19-38937132-G-A c.652G>A p.Val218Ile Missense 8/106 - 1
19-38937138-C-T c.658C>T p.Arg220Cys Missense 8/106 - 2
19-38937141-C-T c.661C>T p.Leu221Phe Missense 8/106 - 1
19-38937141-CTC-AAG c.661_663delinsAAG p.Leu221Lys Missense 8/106 - 1
19-38937157-T-A c.677T>A p.Met226Lys Missense 8/106 - 2
19-38937160-A-T c.680A>T p.Asp227Val Missense 8/106 - 1
19-38937336-T-C c.728T>C p.Leu243Pro Missense 9/106 - 1
19-38937350-G-C c.742G>C p.Gly248Arg Missense 9/106 - 8
19-38937350-G-A c.742G>A p.Gly248Arg Missense 9/106 - 8
19-38937353-G-A c.745G>A p.Gly249Arg Missense 9/106 - 2
19-38937353-G-C c.745G>C p.Gly249Arg Missense 9/106 - 2
19-38939006-G-A c.812G>A p.Ser271Asn Missense 10/106 - 1
19-38939014-C-T c.820C>T p.Arg274Cys Missense 10/106 - 1
19-38939015-G-A c.821G>A p.Arg274His Missense 10/106 - 1
19-38939032-C-T c.838C>T p.Arg280* Nonsense 10/106 - 2
19-38939042-A-G c.848A>G p.His283Arg Missense 10/106 - 2
19-38939074-G-A c.880G>A p.Glu294Lys Missense 10/106 - 1
19-38939075-A-T c.881A>T p.Glu294Val Missense 10/106 - 1
19-38939089-G-T c.895G>T p.Val299Leu Missense 10/106 - 1
19-38939089-G-C c.895G>C p.Val299Leu Missense 10/106 - 1
19-38939141-G-T c.947G>T p.Arg316Leu Missense 10/106 - 1
19-38939313-C-T c.982C>T p.Arg328Trp Missense 11/106 - 2
19-38939352-G-C c.1021G>C p.Gly341Arg Missense 11/106 - 8
19-38939352-G-A c.1021G>A p.Gly341Arg Missense 11/106 - 16
19-38939355-G-A c.1024G>A p.Glu342Lys Missense 11/106 - 1
19-38939408-T-C c.1077T>C p.Ala359Ala Synonymous 11/106 - 1
19-38939408-T-A c.1077T>A p.Ala359Ala Synonymous 11/106 - 1
19-38939408-T-G c.1077T>G p.Ala359Ala Synonymous 11/106 - 1
19-38939413-CA-AT c.1082_1083delinsAT p.Pro361His Missense 11/106 - 1
19-38939431-G-A c.1100G>A p.Arg367Gln Missense 11/106 - 1
19-38939431-G-T c.1100G>T p.Arg367Leu Missense 11/106 - 1
19-38939505-T-C c.1122+52T>C - IntronicSNV - 11/105 1
19-38942406-C-G c.1125C>G p.Ala375Ala Synonymous 12/106 - 1
19-38942406-C-T c.1125C>T p.Ala375Ala Synonymous 12/106 - 1
19-38942406-C-A c.1125C>A p.Ala375Ala Synonymous 12/106 - 1
19-38942453-G-C c.1172G>C p.Arg391Pro Missense 12/106 - 1
19-38942482-C-T c.1201C>T p.Arg401Cys Missense 12/106 - 6
19-38942483-G-T c.1202G>T p.Arg401Leu Missense 12/106 - 1
19-38942483-G-A c.1202G>A p.Arg401His Missense 12/106 - 4
19-38942486-T-C c.1205T>C p.Met402Thr Missense 12/106 - 3
19-38942490-C-G c.1209C>G p.Ile403Met Missense 12/106 - 6
19-38943526-G-A c.1312G>A p.Glu438Lys Missense 13/106 - 1
19-38943532-GTT-ATG c.1318_1320delinsATG p.Val440Met Missense 13/106 - 1
19-38943586-TTG-CAT c.1372_1374delinsCAT p.Leu458His Missense 13/106 - 1
19-38943587-T-A c.1373T>A p.Leu458* Nonsense 13/106 - 1
19-38943593-A-G c.1379A>G p.His460Arg Missense 13/106 - 1
19-38943605-A-G c.1391A>G p.Gln464Arg Missense 13/106 - 1
19-38945851-T-C c.1441-24T>C - IntronicSNV - 13/105 1
19-38945887-AT-TG c.1453_1454delinsTG p.Met485Trp Missense 14/106 - 1
19-38945887-AT-TA c.1453_1454delinsTA p.Met485* Nonsense 14/106 - 1
19-38945887-A-G c.1453A>G p.Met485Val Missense 14/106 - 5
19-38945894-T-C c.1460T>C p.Leu487Pro Missense 14/106 - 1
19-38945908-C-T c.1474C>T p.Arg492Cys Missense 14/106 - 1
19-38945909-G-A c.1475G>A p.Arg492His Missense 14/106 - 1
19-38945956-G-C c.1522G>C p.Glu508Gln Missense 14/106 - 1
19-38945987-T-C c.1553T>C p.Val518Ala Missense 14/106 - 1
19-38945999-A-G c.1565A>G p.Tyr522Cys Missense 14/106 - 1
19-38945999-A-C c.1565A>C p.Tyr522Ser Missense 14/106 - 57
19-38946000-T-C c.1566T>C p.Tyr522Tyr Synonymous 14/106 - 1
19-38946008-T-A c.1574T>A p.Leu525Gln Missense 14/106 - 1
19-38946103-G-A c.1589G>A p.Arg530His Missense 15/106 - 8
19-38946111-C-T c.1597C>T p.Arg533Cys Missense 15/106 - 3
19-38946112-G-A c.1598G>A p.Arg533His Missense 15/106 - 4
19-38946118-A-G c.1604A>G p.Asn535Ser Missense 15/106 - 1
19-38946123-G-A c.1609G>A p.Ala537Thr Missense 15/106 - 1
19-38946129-T-G c.1615T>G p.Phe539Val Missense 15/106 - 1
19-38946154-T-C c.1640T>C p.Val547Ala Missense 15/106 - 4
19-38946168-C-T c.1654C>T p.Arg552Trp Missense 15/106 - 6
19-38946169-G-A c.1655G>A p.Arg552Gln Missense 15/106 - 1
19-38946182-G-C c.1668G>C p.Ser556Ser Synonymous 15/106 - 1
19-38946182-G-T c.1668G>T p.Ser556Ser Synonymous 15/106 - 1
19-38946182-G-A c.1668G>A p.Ser556Ser Synonymous 15/106 - 1
19-38946299-C-T c.1699C>T p.Leu567Phe Missense 16/106 - 1
19-38946320-C-G c.1720C>G p.Leu574Val Missense 16/106 - 1
19-38946342-A-AA c.1742dup p.His581Glnfs*29 Frameshift 16/106 - 1
19-38948155-T-A c.1810T>A p.Ser604Thr Missense 17/106 - 1
19-38948162-G-A c.1817G>A p.Cys606Tyr Missense 17/106 - 1
19-38948185-C-G c.1840C>G p.Arg614Gly Missense 17/106 - 1
19-38948185-C-T c.1840C>T p.Arg614Cys Missense 17/106 - 28
19-38948186-G-T c.1841G>T p.Arg614Leu Missense 17/106 - 5
19-38948227-C-T c.1882C>T p.Arg628Cys Missense 17/106 - 1
19-38948228-G-A c.1883G>A p.Arg628His Missense 17/106 - 1
19-38948242-C-T c.1897C>T p.Gln633* Nonsense 17/106 - 1
19-38948268-C-T c.1923C>T p.Thr641Thr Synonymous 17/106 - 1
19-38948268-C-G c.1923C>G p.Thr641Thr Synonymous 17/106 - 1
19-38948268-C-A c.1923C>A p.Thr641Thr Synonymous 17/106 - 1
19-38948747-G-A c.1982G>A p.Trp661* Nonsense 18/106 - 1
19-38948803-CC-C c.2038del p.His680Thrfs*50 Frameshift 18/106 - 1
19-38948809-C-T c.2044C>T p.Arg682Trp Missense 18/106 - 1
19-38948810-G-C c.2045G>C p.Arg682Pro Missense 18/106 - 1
19-38948856-C-G c.2091C>G p.Ala697Ala Synonymous 18/106 - 1
19-38948856-C-A c.2091C>A p.Ala697Ala Synonymous 18/106 - 1
19-38948856-C-T c.2091C>T p.Ala697Ala Synonymous 18/106 - 1
19-38948860-GAG-AAC c.2095_2097delinsAAC p.Glu699Asn Missense 18/106 - 1
19-38948862-AGGGCTGGGGCGGCAACGGGGTCGGCGA-A c.2097_2123del p.Glu699_Gly707del InFrameDeletion 18/106 - 1
19-38948862-G-T c.2097G>T p.Glu699Asp Missense 18/106 - 1
19-38948862-G-C c.2097G>C p.Glu699Asp Missense 18/106 - 1
19-38948878-G-C c.2113G>C p.Gly705Arg Missense 18/106 - 1
19-38948885-GGCG-G c.2120_2122del p.Gly707del InFrameDeletion 18/106 - 1
19-38948886-C-G c.2121C>G p.Gly707Gly Synonymous 18/106 - 1
19-38948886-C-A c.2121C>A p.Gly707Gly Synonymous 18/106 - 1
19-38948886-C-T c.2121C>T p.Gly707Gly Synonymous 18/106 - 1
19-38948887-G-A c.2122G>A p.Asp708Asn Missense 18/106 - 4
19-38948890-G-T c.2125G>T p.Asp709Tyr Missense 18/106 - 1
19-38949847-C-T c.2229C>T p.Ile743Ile Synonymous 19/106 - 1
19-38949859-G-A c.2241G>A p.Leu747Leu Synonymous 19/106 - 1
19-38949859-G-C c.2241G>C p.Leu747Leu Synonymous 19/106 - 1
19-38949857-C-T c.2239C>T p.Leu747Leu Synonymous 19/106 - 1
19-38949859-G-T c.2241G>T p.Leu747Leu Synonymous 19/106 - 1
19-38949904-C-T c.2286C>T p.Pro762Pro Synonymous 19/106 - 2
19-38949905-G-A c.2287G>A p.Val763Met Missense 19/106 - 1
19-38949938-G-C c.2320G>C p.Gly774Arg Missense 19/106 - 1
19-38949938-G-A c.2320G>A p.Gly774Arg Missense 19/106 - 1
19-38951016-GG-G c.2362del p.Val788Cysfs*96 Frameshift 20/106 - 1
19-38951101-C-T c.2447C>T p.Pro816Leu Missense 20/106 - 1
19-38951109-C-T c.2455C>T p.Arg819* Nonsense 20/106 - 1
19-38951130-A-T c.2476A>T p.Lys826* Nonsense 20/106 - 1
19-38951142-C-T c.2488C>T p.Arg830Trp Missense 20/106 - 2
19-38951159-GG-G c.2505del p.Pro836Leufs*48 Frameshift 20/106 - 1
19-38951175-C-G c.2521C>G p.Pro841Ala Missense 20/106 - 1
19-38951202-T-G c.2548T>G p.Phe850Val Missense 20/106 - 1
19-38954079-A-G c.2594A>G p.His865Arg Missense 21/106 - 1
19-38954133-T-C c.2648T>C p.Leu883Pro Missense 21/106 - 1
19-38954139-G-A c.2654G>A p.Arg885His Missense 21/106 - 1
19-38954147-C-T c.2662C>T p.Gln888* Nonsense 21/106 - 1
19-38954162-G-A c.2677G>A p.Gly893Ser Missense 21/106 - 2
19-38954167-G-A c.2682G>A p.Pro894Pro Synonymous 21/106 - 1
19-38954167-G-T c.2682G>T p.Pro894Pro Synonymous 21/106 - 1
19-38954167-G-C c.2682G>C p.Pro894Pro Synonymous 21/106 - 1
19-38954386-G-A c.2683-1G>A - IntronicSNV - 21/105 1
19-38955289-G-A c.2797G>A p.Ala933Thr Missense 23/106 - 1
19-38956779-C-T c.2919C>T p.His973His Synonymous 24/106 - 1
19-38956780-G-A c.2920G>A p.Val974Met Missense 24/106 - 1
19-38956783-C-T c.2923C>T p.Arg975Trp Missense 24/106 - 2
19-38956798-C-T c.2938C>T p.Gln980* Nonsense 24/106 - 1
19-38956803-G-T c.2943G>T p.Thr981Thr Synonymous 24/106 - 2
19-38956803-G-A c.2943G>A p.Thr981Thr Synonymous 24/106 - 3
19-38956803-G-C c.2943G>C p.Thr981Thr Synonymous 24/106 - 3
19-38956826-A-G c.2966A>G p.Glu989Gly Missense 24/106 - 3
19-38956839-C-T c.2979C>T p.Asn993Asn Synonymous 24/106 - 1
19-38956844-G-A c.2984G>A p.Trp995* Nonsense 24/106 - 1
19-38956853-A-T c.2993A>T p.Asp998Val Missense 24/106 - 1
19-38956856-G-A c.2996G>A p.Arg999His Missense 24/106 - 2
19-38956942-G-A c.3082G>A p.Glu1028Lys Missense 24/106 - 1
19-38956963-C-T c.3103C>T p.Arg1035Trp Missense 24/106 - 1
19-38956987-C-T c.3127C>T p.Arg1043Cys Missense 24/106 - 4
19-38956988-G-A c.3128G>A p.Arg1043His Missense 24/106 - 2
19-38957026-G-C c.3166G>C p.Asp1056His Missense 24/106 - 3
19-38957032-G-A c.3172G>A p.Glu1058Lys Missense 24/106 - 2
19-38958294-C-T c.3223C>T p.Arg1075Trp Missense 25/106 - 2
19-38958327-C-A c.3256C>A p.Arg1086Ser Missense 25/106 - 1
19-38958327-C-T c.3256C>T p.Arg1086Cys Missense 25/106 - 1
19-38958328-G-A c.3257G>A p.Arg1086His Missense 25/106 - 5
19-38958387-C-G c.3316C>G p.Pro1106Ala Missense 25/106 - 1
19-38958396-AG-CT c.3325_3326inv p.Arg1109Leu Missense 25/106 - 1
19-38958397-G-A c.3326G>A p.Arg1109Lys Missense 25/106 - 1
19-38959196-T-G c.3382-410T>G - IntronicSNV - 25/105 1
19-38959673-TG-T c.3449del p.Cys1150Leufs*2 Frameshift 26/106 - 1
19-38959680-C-A c.3456C>A p.Ile1152Ile Synonymous 26/106 - 1
19-38959680-C-T c.3456C>T p.Ile1152Ile Synonymous 26/106 - 1
19-38959719-C-T c.3495C>T p.Gly1165Gly Synonymous 26/106 - 1
19-38959727-CTC-C c.3503_3504del p.Leu1168Hisfs*3 Frameshift 26/106 - 1
19-38959747-G-A c.3523G>A p.Glu1175Lys Missense 26/106 - 1
19-38960007-G-A c.3619G>A p.Val1207Met Missense 27/106 - 1
19-38960067-A-G c.3679A>G p.Ile1227Val Missense 27/106 - 1
19-38960109-C-T c.3721C>T p.Leu1241Leu Synonymous 27/106 - 1
19-38964109-T-A c.3858T>A p.Leu1286Leu Synonymous 28/106 - 1
19-38964109-T-C c.3858T>C p.Leu1286Leu Synonymous 28/106 - 1
19-38964109-T-G c.3858T>G p.Leu1286Leu Synonymous 28/106 - 1
19-38964179-G-T c.3928G>T p.Ala1310Ser Missense 28/106 - 1
19-38964254-C-T c.4003C>T p.Arg1335Cys Missense 28/106 - 2
19-38964275-A-G c.4024A>G p.Ser1342Gly Missense 28/106 - 8
19-38964306-C-G c.4055C>G p.Ala1352Gly Missense 28/106 - 3
19-38964317-G-A c.4066G>A p.Ala1356Thr Missense 28/106 - 1
19-38964322-C-A c.4071C>A p.Pro1357Pro Synonymous 28/106 - 1
19-38964322-C-G c.4071C>G p.Pro1357Pro Synonymous 28/106 - 1
19-38964322-C-T c.4071C>T p.Pro1357Pro Synonymous 28/106 - 1
19-38964339-C-T c.4088C>T p.Ala1363Val Missense 28/106 - 1
19-38964345-GG-G c.4094del p.Gly1365Glufs*33 Frameshift 28/106 - 2
19-38964364-G-C c.4113G>C p.Arg1371Ser Missense 28/106 - 1
19-38965975-A-G c.4178A>G p.Lys1393Arg Missense 29/106 - 10
19-38966001-C-T c.4204C>T p.Pro1402Ser Missense 29/106 - 1
19-38966022-C-T c.4225C>T p.Arg1409* Nonsense 29/106 - 1
19-38966066-C-A c.4269C>A p.Pro1423Pro Synonymous 29/106 - 1
19-38966066-C-T c.4269C>T p.Pro1423Pro Synonymous 29/106 - 1
19-38966066-C-G c.4269C>G p.Pro1423Pro Synonymous 29/106 - 1
19-38966067-G-A c.4270G>A p.Glu1424Lys Missense 29/106 - 1
19-38966090-G-A c.4293G>A p.Thr1431Thr Synonymous 29/106 - 1
19-38968461-C-T c.4405C>T p.Arg1469Trp Missense 30/106 - 2
19-38968484-G-C c.4428G>C p.Gly1476Gly Synonymous 30/106 - 1
19-38968484-G-A c.4428G>A p.Gly1476Gly Synonymous 30/106 - 1
19-38968484-G-T c.4428G>T p.Gly1476Gly Synonymous 30/106 - 1
19-38969098-T-G c.4478T>G p.Met1493Arg Missense 31/106 - 1
19-38969105-GGGGCGGAGACTTTGTG-G c.4485_4500del p.Trp1495* Frameshift 31/106 - 2
19-38969105-G-A c.4485G>A p.Trp1495* Nonsense 31/106 - 1
19-38969116-TTT-T c.4496_4497del p.Phe1499Cysfs*47 Frameshift 31/106 - 1
19-38969140-G-A c.4520G>A p.Arg1507Gln Missense 31/106 - 1
19-38969187-A-C c.4567A>C p.Thr1523Pro Missense 31/106 - 1
19-38973685-C-T c.4639C>T p.Leu1547Leu Synonymous 32/106 - 1
19-38973933-A-G c.4711A>G p.Ile1571Val Missense 33/106 - 9
19-38973937-T-C c.4715T>C p.Met1572Thr Missense 33/106 - 1
19-38973941-G-A c.4719G>A p.Pro1573Pro Synonymous 33/106 - 1
19-38973941-G-T c.4719G>T p.Pro1573Pro Synonymous 33/106 - 1
19-38973941-G-C c.4719G>C p.Pro1573Pro Synonymous 33/106 - 1
19-38973985-C-T c.4763C>T p.Pro1588Leu Missense 33/106 - 1
19-38974039-G-A c.4817G>A p.Arg1606His Missense 33/106 - 1
19-38974116-C-T c.4894C>T p.Pro1632Ser Missense 33/106 - 1
19-38974146-G-A c.4924G>A p.Glu1642Lys Missense 33/106 - 1
19-38974154-C-T c.4932C>T p.Asn1644Asn Synonymous 33/106 - 1
19-38976262-T-G c.4967T>G p.Leu1656Arg Missense 34/106 - 1
19-38976274-G-A c.4979G>A p.Arg1660His Missense 34/106 - 1
19-38976294-C-T c.4999C>T p.Arg1667Cys Missense 34/106 - 1
19-38976303-C-T c.5008C>T p.Arg1670Cys Missense 34/106 - 1
19-38976306-G-A c.5011G>A p.Ala1671Thr Missense 34/106 - 1
19-38976319-T-C c.5024T>C p.Leu1675Pro Missense 34/106 - 1
19-38976331-G-A c.5036G>A p.Arg1679His Missense 34/106 - 5
19-38976331-G-C c.5036G>C p.Arg1679Pro Missense 34/106 - 1
19-38976420-G-C c.5125G>C p.Gly1709Arg Missense 34/106 - 1
19-38976478-C-T c.5183C>T p.Ser1728Phe Missense 34/106 - 4
19-38976655-C-T c.5360C>T p.Pro1787Leu Missense 34/106 - 5
19-38976736-T-A c.5441T>A p.Met1814Lys Missense 34/106 - 1
19-38976753-CGC-TGA c.5458_5460delinsTGA p.Arg1820* Nonsense 34/106 - 1
19-38976770-C-A c.5475C>A p.His1825Gln Missense 34/106 - 1
19-38976770-C-G c.5475C>G p.His1825Gln Missense 34/106 - 1
19-38979903-G-C c.5634G>C p.Glu1878Asp Missense 35/106 - 1
19-38979903-G-T c.5634G>T p.Glu1878Asp Missense 35/106 - 1
19-38979995-GAG-G c.5726_5727del p.Glu1909Glyfs*39 Frameshift 35/106 - 1
19-38980015-G-C c.5746G>C p.Gly1916Arg Missense 35/106 - 1
19-38980816-A-T c.5915A>T p.Asn1972Ile Missense 36/106 - 1
19-38980827-C-T c.5926C>T p.Arg1976Cys Missense 36/106 - 2
19-38980890-G-A c.5989G>A p.Glu1997Lys Missense 36/106 - 1
19-38983180-G-T c.6178G>T p.Gly2060Cys Missense 38/106 - 6
19-38983180-G-C c.6178G>C p.Gly2060Arg Missense 38/106 - 1
19-38983263-G-A c.6261G>A p.Glu2087Glu Synonymous 38/106 - 1
19-38985076-T-C c.6359T>C p.Met2120Thr Missense 39/106 - 1
19-38985094-G-A c.6377G>A p.Arg2126Gln Missense 39/106 - 1
19-38985101-C-T c.6384C>T p.Tyr2128Tyr Synonymous 39/106 - 1
19-38985102-G-A c.6385G>A p.Asp2129Asn Missense 39/106 - 1
19-38985104-C-G c.6387C>G p.Asp2129Glu Missense 39/106 - 1
19-38985105-G-C c.6388G>C p.Gly2130Arg Missense 39/106 - 1
19-38985105-G-A c.6388G>A p.Gly2130Arg Missense 39/106 - 1
19-38985135-C-T c.6418C>T p.Arg2140Trp Missense 39/106 - 1
19-38985181-T-C c.6464T>C p.Leu2155Pro Missense 39/106 - 1
19-38985186-G-A c.6469G>A p.Glu2157Lys Missense 39/106 - 1
19-38985195-G-A c.6478G>A p.Gly2160Ser Missense 39/106 - 2
19-38985204-C-T c.6487C>T p.Arg2163Cys Missense 39/106 - 5
19-38985205-G-A c.6488G>A p.Arg2163His Missense 39/106 - 11
19-38985205-G-C c.6488G>C p.Arg2163Pro Missense 39/106 - 4
19-38985215-C-A c.6498C>A p.Leu2166Leu Synonymous 39/106 - 1
19-38985215-C-G c.6498C>G p.Leu2166Leu Synonymous 39/106 - 1
19-38985215-C-T c.6498C>T p.Leu2166Leu Synonymous 39/106 - 1
19-38985219-G-A c.6502G>A p.Val2168Met Missense 39/106 - 11
19-38985238-A-C c.6521A>C p.Glu2174Ala Missense 39/106 - 1
19-38985261-A-T c.6544A>T p.Ile2182Phe Missense 39/106 - 2
19-38986890-C-T c.6584C>T p.Pro2195Leu Missense 40/106 - 1
19-38986905-C-T c.6599C>T p.Ala2200Val Missense 40/106 - 2
19-38986918-C-G c.6612C>G p.His2204Gln Missense 40/106 - 2
19-38986923-C-T c.6617C>T p.Thr2206Met Missense 40/106 - 15
19-38986923-C-G c.6617C>G p.Thr2206Arg Missense 40/106 - 3
19-38987047-A-G c.6664-2A>G - IntronicSNV - 40/105 1
19-38987055-C-T c.6670C>T p.Arg2224Cys Missense 41/106 - 1
19-38987056-G-A c.6671G>A p.Arg2224His Missense 41/106 - 1
19-38987082-T-C c.6697T>C p.Cys2233Arg Missense 41/106 - 2
19-38987095-G-A c.6710G>A p.Cys2237Tyr Missense 41/106 - 1
19-38987106-C-T c.6721C>T p.Arg2241* Nonsense 41/106 - 7
19-38987115-C-A c.6730C>A p.Arg2244Arg Synonymous 41/106 - 1
19-38987117-G-T c.6732G>T p.Arg2244Arg Synonymous 41/106 - 1
19-38987117-G-A c.6732G>A p.Arg2244Arg Synonymous 41/106 - 1
19-38987117-G-C c.6732G>C p.Arg2244Arg Synonymous 41/106 - 1
19-38987127-C-T c.6742C>T p.Arg2248Cys Missense 41/106 - 1
19-38987128-G-A c.6743G>A p.Arg2248His Missense 41/106 - 3
19-38987128-GC-AA c.6743_6744delinsAA p.Arg2248Gln Missense 41/106 - 1
19-38987170-G-A c.6785G>A p.Gly2262Asp Missense 41/106 - 1
19-38987491-C-T c.6797-9C>T - IntronicSNV - 41/105 1
19-38987541-G-A c.6838G>A p.Val2280Ile Missense 42/106 - 3
19-38987550-A-C c.6847A>C p.Asn2283His Missense 42/106 - 3
19-38987563-C-A c.6860C>A p.Ala2287Asp Missense 42/106 - 1
19-38987595-G-T c.6891+1G>T - IntronicSNV - 42/105 1
19-38989789-CC-C c.6933del p.Met2312Cysfs*118 Frameshift 43/106 - 1
19-38989817-A-G c.6961A>G p.Ile2321Val Missense 43/106 - 3
19-38989838-G-A c.6982G>A p.Gly2328Arg Missense 43/106 - 1
19-38989862-C-T c.7006C>T p.Arg2336Cys Missense 43/106 - 1
19-38989863-G-A c.7007G>A p.Arg2336His Missense 43/106 - 10
19-38989881-A-G c.7025A>G p.Asn2342Ser Missense 43/106 - 13
19-38990279-G-C c.7032G>C p.Glu2344Asp Missense 44/106 - 1
19-38990279-G-T c.7032G>T p.Glu2344Asp Missense 44/106 - 1
19-38990281-G-C c.7034G>C p.Ser2345Thr Missense 44/106 - 2
19-38990282-C-A c.7035C>A p.Ser2345Arg Missense 44/106 - 2
19-38990283-G-A c.7036G>A p.Val2346Met Missense 44/106 - 2
19-38990289-GGAG-G c.7042_7044del p.Glu2348del InFrameDeletion 44/106 - 3
19-38990290-A-G c.7043A>G p.Glu2348Gly Missense 44/106 - 1
19-38990295-G-A c.7048G>A p.Ala2350Thr Missense 44/106 - 10
19-38990298-A-C c.7051A>C p.Asn2351His Missense 44/106 - 1
19-38990307-GGTG-G c.7060_7062del p.Val2354del InFrameDeletion 44/106 - 2
19-38990307-G-A c.7060G>A p.Val2354Met Missense 44/106 - 3
19-38990310-C-T c.7063C>T p.Arg2355Trp Missense 44/106 - 9
19-38990319-A-C c.7072A>C p.Ile2358Leu Missense 44/106 - 2
19-38990323-G-A c.7076G>A p.Arg2359Gln Missense 44/106 - 1
19-38990331-G-A c.7084G>A p.Glu2362Lys Missense 44/106 - 1
19-38990332-A-G c.7085A>G p.Glu2362Gly Missense 44/106 - 1
19-38990336-C-G c.7089C>G p.Cys2363Trp Missense 44/106 - 1
19-38990337-T-G c.7090T>G p.Phe2364Val Missense 44/106 - 1
19-38990340-G-A c.7093G>A p.Gly2365Arg Missense 44/106 - 1
19-38990340-G-C c.7093G>C p.Gly2365Arg Missense 44/106 - 1
19-38990344-C-G c.7097C>G p.Pro2366Arg Missense 44/106 - 1
19-38990358-G-A c.7111G>A p.Glu2371Lys Missense 44/106 - 1
19-38990359-A-G c.7112A>G p.Glu2371Gly Missense 44/106 - 3
19-38990371-G-C c.7124G>C p.Gly2375Ala Missense 44/106 - 5
19-38990413-GACCCTGCGAGG-G c.7166_7176del p.Asp2389Glyfs*16 Frameshift 44/106 - 2
19-38990456-C-A c.7209C>A p.Arg2403Arg Synonymous 44/106 - 1
19-38990456-C-G c.7209C>G p.Arg2403Arg Synonymous 44/106 - 1
19-38990456-C-T c.7209C>T p.Arg2403Arg Synonymous 44/106 - 1
19-38990457-G-A c.7210G>A p.Glu2404Lys Missense 44/106 - 2
19-38990593-C-T c.7260C>T p.His2420His Synonymous 45/106 - 1
19-38990601-T-A c.7268T>A p.Met2423Lys Missense 45/106 - 2
19-38990610-A-G c.7277A>G p.Tyr2426Cys Missense 45/106 - 1
19-38990615-G-A c.7282G>A p.Ala2428Thr Missense 45/106 - 3
19-38990624-G-T c.7291G>T p.Asp2431Tyr Missense 45/106 - 2
19-38990632-C-A c.7299C>A p.Leu2433Leu Synonymous 45/106 - 1
19-38990632-C-G c.7299C>G p.Leu2433Leu Synonymous 45/106 - 1
19-38990632-C-T c.7299C>T p.Leu2433Leu Synonymous 45/106 - 1
19-38990633-G-A c.7300G>A p.Gly2434Arg Missense 45/106 - 18
19-38990636-CGC-AAG c.7303_7305delinsAAG p.Arg2435Lys Missense 45/106 - 2
19-38990637-G-A c.7304G>A p.Arg2435His Missense 45/106 - 11
19-38990637-G-T c.7304G>T p.Arg2435Leu Missense 45/106 - 8
19-38990641-GTG-G c.7308_7309del p.Ala2437Thrfs*12 Frameshift 45/106 - 1
19-38991245-G-T c.7324-1G>T - IntronicSNV - 45/105 1
19-38991258-G-A c.7336G>A p.Gly2446Ser Missense 46/106 - 1
19-38991276-C-T c.7354C>T p.Arg2452Trp Missense 46/106 - 9
19-38991280-T-C c.7358T>C p.Ile2453Thr Missense 46/106 - 4
19-38991282-C-T c.7360C>T p.Arg2454Cys Missense 46/106 - 7
19-38991283-G-A c.7361G>A p.Arg2454His Missense 46/106 - 10
19-38991286-C-G c.7364C>G p.Ala2455Gly Missense 46/106 - 1
19-38991294-C-T c.7372C>T p.Arg2458Cys Missense 46/106 - 6
19-38991295-G-A c.7373G>A p.Arg2458His Missense 46/106 - 8
19-38991303-GTG-ATC c.7381_7383delinsATC p.Val2461Ile Missense 46/106 - 2
19-38991304-T-G c.7382T>G p.Val2461Gly Missense 46/106 - 2
19-38991484-A-G c.7468A>G p.Met2490Val Missense 47/106 - 1
19-38991538-C-G c.7522C>G p.Arg2508Gly Missense 47/106 - 2
19-38991538-C-T c.7522C>T p.Arg2508Cys Missense 47/106 - 4
19-38991539-G-A c.7523G>A p.Arg2508His Missense 47/106 - 5
19-38991544-T-C c.7528T>C p.Tyr2510His Missense 47/106 - 1
19-38991600-C-A c.7584C>A p.Pro2528Pro Synonymous 47/106 - 1
19-38991600-C-G c.7584C>G p.Pro2528Pro Synonymous 47/106 - 1
19-38991600-C-T c.7584C>T p.Pro2528Pro Synonymous 47/106 - 1
19-38991601-G-A c.7585G>A p.Asp2529Asn Missense 47/106 - 1
19-38993144-T-A c.7615-3T>A - IntronicSNV - 47/105 1
19-38993231-C-T c.7699C>T p.Pro2567Ser Missense 48/106 - 1
19-38993269-G-A c.7737G>A p.Val2579Val Synonymous 48/106 - 1
19-38993269-G-C c.7737G>C p.Val2579Val Synonymous 48/106 - 1
19-38993269-G-T c.7737G>T p.Val2579Val Synonymous 48/106 - 1
19-38993281-G-T c.7749G>T p.Leu2583Leu Synonymous 48/106 - 1
19-38993281-G-C c.7749G>C p.Leu2583Leu Synonymous 48/106 - 1
19-38993281-G-A c.7749G>A p.Leu2583Leu Synonymous 48/106 - 1
19-38993279-C-T c.7747C>T p.Leu2583Leu Synonymous 48/106 - 1
19-38993556-C-T c.7872C>T p.Arg2624Arg Synonymous 49/106 - 1
19-38993556-C-A c.7872C>A p.Arg2624Arg Synonymous 49/106 - 1
19-38993556-C-G c.7872C>G p.Arg2624Arg Synonymous 49/106 - 1
19-38993563-G-A c.7879G>A p.Val2627Met Missense 49/106 - 3
19-38994910-G-T c.7977G>T p.Thr2659Thr Synonymous 50/106 - 1
19-38994910-G-C c.7977G>C p.Thr2659Thr Synonymous 50/106 - 1
19-38994910-G-A c.7977G>A p.Thr2659Thr Synonymous 50/106 - 1
19-38994925-C-T c.7992C>T p.Phe2664Phe Synonymous 50/106 - 1
19-38994959-C-T c.8026C>T p.Arg2676Trp Missense 50/106 - 5
19-38994987-C-T c.8054C>T p.Ser2685Phe Missense 50/106 - 1
19-38995438-T-C c.8118T>C p.Ile2706Ile Synonymous 51/106 - 1
19-38995438-T-A c.8118T>A p.Ile2706Ile Synonymous 51/106 - 1
19-38995461-TAT-T c.8141_8142del p.Tyr2714Cysfs*8 Frameshift 51/106 - 1
19-38995509-A-G c.8189A>G p.Asp2730Gly Missense 51/106 - 3
19-38995510-T-C c.8190T>C p.Asp2730Asp Synonymous 51/106 - 1
19-38995701-G-A c.8290G>A p.Glu2764Lys Missense 52/106 - 1
19-38995965-C-T c.8327C>T p.Ser2776Phe Missense 53/106 - 2
19-38995975-G-A c.8337G>A p.Glu2779Glu Synonymous 53/106 - 1
19-38995980-ATA-A c.8342_8343del p.Ile2781Argfs*49 Frameshift 53/106 - 1
19-38995998-C-G c.8360C>G p.Thr2787Ser Missense 53/106 - 4
19-38995997-A-T c.8359A>T p.Thr2787Ser Missense 53/106 - 4
19-38996012-A-C c.8374A>C p.Arg2792Arg Synonymous 53/106 - 1
19-38996014-G-A c.8376G>A p.Arg2792Arg Synonymous 53/106 - 1
19-38996462-G-A c.8417G>A p.Arg2806His Missense 54/106 - 1
19-38996563-CGG-TGT c.8518_8520delinsTGT p.Arg2840Cys Missense 54/106 - 1
19-38996563-C-T c.8518C>T p.Arg2840Trp Missense 54/106 - 1
19-38996572-TCA-GAC c.8527_8529delinsGAC p.Ser2843Asp Missense 54/106 - 3
19-38996572-T-G c.8527T>G p.Ser2843Ala Missense 54/106 - 3
19-38996955-C-T c.8554C>T p.Arg2852* Nonsense 55/106 - 1
19-38996990-T-C c.8589T>C p.Ser2863Ser Synonymous 55/106 - 2
19-38997024-G-A c.8616+7G>A - IntronicSNV - 55/105 1
19-38997317-G-A c.8692+131G>A - IntronicSNV - 56/105 1
19-38997505-C-T c.8729C>T p.Thr2910Met Missense 57/106 - 1
19-38997534-C-T c.8758C>T p.Arg2920* Nonsense 57/106 - 1
19-38997592-G-A c.8816G>A p.Arg2939Lys Missense 57/106 - 5
19-38998362-G-A c.8827G>A p.Asp2943Asn Missense 58/106 - 2
19-38998405-T-C c.8870T>C p.Phe2957Ser Missense 58/106 - 1
19-38998423-T-C c.8888T>C p.Leu2963Pro Missense 58/106 - 2
19-39001137-G-A c.8933-1G>A - IntronicSNV - 58/105 2
19-39001154-T-C c.8949T>C p.Ser2983Ser Synonymous 59/106 - 1
19-39001158-C-T c.8953C>T p.Arg2985* Nonsense 59/106 - 2
19-39001298-A-G c.9001-2A>G - IntronicSNV - 59/105 1
19-39001346-A-G c.9047A>G p.Tyr3016Cys Missense 60/106 - 2
19-39001380-C-T c.9081C>T p.Ser3027Ser Synonymous 60/106 - 1
19-39002230-G-A c.9152G>A p.Arg3051His Missense 61/106 - 1
19-39002235-C-T c.9157C>T p.Arg3053* Nonsense 61/106 - 2
19-39002244-TCTCT-T c.9166_9169del p.Phe3057Glyfs*23 Frameshift 61/106 - 1
19-39002725-A-C c.9186A>C p.Pro3062Pro Synonymous 62/106 - 1
19-39002725-A-G c.9186A>G p.Pro3062Pro Synonymous 62/106 - 2
19-39002725-A-T c.9186A>T p.Pro3062Pro Synonymous 62/106 - 1
19-39002760-C-T c.9221C>T p.Ser3074Phe Missense 62/106 - 2
19-39002893-T-C c.9242T>C p.Met3081Thr Missense 63/106 - 1
19-39002944-G-T c.9293G>T p.Ser3098Ile Missense 63/106 - 2
19-39002961-G-A c.9310G>A p.Glu3104Lys Missense 63/106 - 4
19-39003007-G-A c.9356G>A p.Arg3119His Missense 63/106 - 1
19-39003036-C-G c.9385C>G p.Leu3129Val Missense 63/106 - 1
19-39003036-C-T c.9385C>T p.Leu3129Phe Missense 63/106 - 1
19-39003058-CT-C c.9407del p.Leu3136Argfs*75 Frameshift 63/106 - 2
19-39003064-C-T c.9413C>T p.Pro3138Leu Missense 63/106 - 1
19-39003103-A-G c.9452A>G p.Gln3151Arg Missense 63/106 - 1
19-39003108-G-A c.9457G>A p.Gly3153Arg Missense 63/106 - 1
19-39005706-T-C c.9513T>C p.Ser3171Ser Synonymous 64/106 - 1
19-39006777-C-T c.9605C>T p.Pro3202Leu Missense 65/106 - 1
19-39006821-T-C c.9649T>C p.Ser3217Pro Missense 65/106 - 2
19-39006830-A-G c.9658A>G p.Thr3220Ala Missense 65/106 - 1
19-39006848-G-C c.9676G>C p.Glu3226Gln Missense 65/106 - 1
19-39008026-A-G c.9713A>G p.Glu3238Gly Missense 66/106 - 1
19-39008029-T-A c.9716T>A p.Met3239Lys Missense 66/106 - 3
19-39008071-T-C c.9758T>C p.Ile3253Thr Missense 66/106 - 3
19-39008161-G-A c.9848G>A p.Arg3283Gln Missense 66/106 - 1
19-39008164-G-A c.9851G>A p.Trp3284* Nonsense 66/106 - 1
19-39008172-C-T c.9859C>T p.Arg3287Cys Missense 66/106 - 1
19-39008205-G-A c.9892G>A p.Ala3298Thr Missense 66/106 - 1
19-39009877-C-T c.10042C>T p.Arg3348Cys Missense 67/106 - 2
19-39009883-C-A c.10048C>A p.Arg3350Arg Synonymous 67/106 - 1
19-39009885-G-T c.10050G>T p.Arg3350Arg Synonymous 67/106 - 1
19-39009885-G-C c.10050G>C p.Arg3350Arg Synonymous 67/106 - 1
19-39009885-G-A c.10050G>A p.Arg3350Arg Synonymous 67/106 - 1
19-39009932-G-A c.10097G>A p.Arg3366His Missense 67/106 - 6
19-39009954-G-C c.10119G>C p.Val3373Val Synonymous 67/106 - 1
19-39009954-G-A c.10119G>A p.Val3373Val Synonymous 67/106 - 1
19-39009954-G-T c.10119G>T p.Val3373Val Synonymous 67/106 - 1
19-39010054-G-T c.10219G>T p.Ala3407Ser Missense 67/106 - 1
19-39010054-G-A c.10219G>A p.Ala3407Thr Missense 67/106 - 1
19-39010087-A-G c.10252A>G p.Asn3418Asp Missense 67/106 - 1
19-39013851-C-G c.10348-6C>G - IntronicSNV - 68/105 1
19-39013866-C-T c.10357C>T p.Arg3453Cys Missense 69/106 - 1
19-39016008-C-G c.10492C>G p.Arg3498Gly Missense 71/106 - 1
19-39016077-G-T c.10561G>T p.Gly3521Cys Missense 71/106 - 1
19-39016095-C-T c.10579C>T p.Pro3527Ser Missense 71/106 - 5
19-39016132-G-A c.10616G>A p.Arg3539His Missense 71/106 - 8
19-39017654-C-T c.10648C>T p.Arg3550Trp Missense 72/106 - 1
19-39017687-G-A c.10681G>A p.Gly3561Arg Missense 72/106 - 1
19-39018329-C-T c.10729C>T p.Arg3577Trp Missense 73/106 - 1
19-39018347-G-C c.10747G>C p.Glu3583Gln Missense 73/106 - 5
19-39018417-T-C c.10817T>C p.Leu3606Pro Missense 73/106 - 1
19-39019006-C-T c.10885C>T p.Arg3629Trp Missense 74/106 - 1
19-39019242-C-G c.10941C>G p.His3647Gln Missense 75/106 - 2
19-39019688-C-T c.11132C>T p.Thr3711Met Missense 76/106 - 1
19-39019688-C-G c.11132C>G p.Thr3711Arg Missense 76/106 - 2
19-39025366-C-G c.11266C>G p.Gln3756Glu Missense 79/106 - 2
19-39025414-C-T c.11314C>T p.Arg3772Trp Missense 79/106 - 5
19-39025415-G-A c.11315G>A p.Arg3772Gln Missense 79/106 - 6
19-39025421-C-T c.11321C>T p.Ala3774Val Missense 79/106 - 1
19-39026661-G-C c.11541G>C p.Glu3847Asp Missense 82/106 - 1
19-39026661-G-T c.11541G>T p.Glu3847Asp Missense 82/106 - 1
19-39026667-G-A c.11547G>A p.Gln3849Gln Synonymous 82/106 - 2
19-39026677-G-A c.11557G>A p.Glu3853Lys Missense 82/106 - 3
19-39028564-C-T c.11653C>T p.Arg3885* Nonsense 84/106 - 1
19-39034005-G-A c.11708G>A p.Arg3903Gln Missense 85/106 - 3
19-39034020-A-T c.11723A>T p.Asn3908Ile Missense 85/106 - 1
19-39034060-C-A c.11763C>A p.Tyr3921* Nonsense 85/106 - 1
19-39034075-G-A c.11778G>A p.Gln3926Gln Synonymous 85/106 - 1
19-39034191-A-G c.11798A>G p.Tyr3933Cys Missense 86/106 - 7
19-39034444-C-T c.11941C>T p.His3981Tyr Missense 87/106 - 2
19-39034450-C-T c.11947C>T p.Arg3983Cys Missense 87/106 - 3
19-39034451-G-A c.11948G>A p.Arg3983His Missense 87/106 - 1
19-39034456-T-A c.11953T>A p.Trp3985Arg Missense 87/106 - 1
19-39034456-T-C c.11953T>C p.Trp3985Arg Missense 87/106 - 1
19-39034461-C-G c.11958C>G p.Asp3986Glu Missense 87/106 - 7
19-39034472-G-T c.11969G>T p.Gly3990Val Missense 87/106 - 4
19-39034502-ATGA-A c.11999_12001del p.Met4000del InFrameDeletion 87/106 - 1
19-39037100-G-A c.12028G>A p.Glu4010Lys Missense 88/106 - 1
19-39037155-C-T c.12083C>T p.Ser4028Leu Missense 88/106 - 1
19-39038888-GG-G c.12110del p.Gly4037Alafs*2 Frameshift 89/106 - 1
19-39038899-C-T c.12121C>T p.Arg4041Trp Missense 89/106 - 1
19-39038927-C-A c.12149C>A p.Ser4050Tyr Missense 89/106 - 1
19-39039028-C-T c.12250C>T p.Arg4084Cys Missense 89/106 - 1
19-39050479-G-C c.12283-1274G>C - IntronicSNV - 89/105 1
19-39050479-G-A c.12283-1274G>A - IntronicSNV - 89/105 1
19-39051785-CAGAAATCCAGTTCC-C c.12315_12328del p.Glu4106Alafs*8 Frameshift 90/106 - 1
19-39051805-C-T c.12335C>T p.Ser4112Leu Missense 90/106 - 1
19-39051868-A-G c.12398A>G p.Glu4133Gly Missense 90/106 - 1
19-39051883-T-C c.12413T>C p.Ile4138Thr Missense 90/106 - 1
19-39051898-C-T c.12428C>T p.Ala4143Val Missense 90/106 - 1
19-39051969-G-T c.12499G>T p.Glu4167* Nonsense 90/106 - 1
19-39052002-G-A c.12532G>A p.Gly4178Ser Missense 90/106 - 1
19-39052003-G-T c.12533G>T p.Gly4178Val Missense 90/106 - 1
19-39052006-G-A c.12536G>A p.Arg4179His Missense 90/106 - 1
19-39052011-G-A c.12541G>A p.Glu4181Lys Missense 90/106 - 1
19-39052023-G-A c.12553G>A p.Ala4185Thr Missense 90/106 - 1
19-39052069-A-G c.12599A>G p.Asn4200Ser Missense 90/106 - 1
19-39055663-T-G c.12689T>G p.Met4230Arg Missense 91/106 - 2
19-39055674-G-C c.12700G>C p.Val4234Leu Missense 91/106 - 4
19-39055674-G-T c.12700G>T p.Val4234Leu Missense 91/106 - 4
19-39055818-C-G c.12844C>G p.Leu4282Val Missense 91/106 - 1
19-39055834-C-T c.12860C>T p.Ala4287Val Missense 91/106 - 1
19-39055852-C-T c.12878C>T p.Ala4293Val Missense 91/106 - 1
19-39055853-G-A c.12879G>A p.Ala4293Ala Synonymous 91/106 - 1
19-39055853-G-C c.12879G>C p.Ala4293Ala Synonymous 91/106 - 1
19-39055853-G-T c.12879G>T p.Ala4293Ala Synonymous 91/106 - 1
19-39055854-A-G c.12880A>G p.Thr4294Ala Missense 91/106 - 1
19-39055855-C-T c.12881C>T p.Thr4294Met Missense 91/106 - 1
19-39055858-C-T c.12884C>T p.Ala4295Val Missense 91/106 - 3
19-39055936-G-T c.12962G>T p.Arg4321Leu Missense 91/106 - 1
19-39055960-C-A c.12986C>A p.Ala4329Asp Missense 91/106 - 2
19-39055965-G-A c.12991G>A p.Ala4331Thr Missense 91/106 - 1
19-39057597-C-T c.13484C>T p.Pro4495Leu Missense 92/106 - 1
19-39057598-G-A c.13485G>A p.Pro4495Pro Synonymous 92/106 - 1
19-39057598-G-C c.13485G>C p.Pro4495Pro Synonymous 92/106 - 1
19-39057598-G-T c.13485G>T p.Pro4495Pro Synonymous 92/106 - 1
19-39057615-C-T c.13502C>T p.Pro4501Leu Missense 92/106 - 3
19-39057618-A-G c.13505A>G p.Glu4502Gly Missense 92/106 - 1
19-39057626-G-C c.13513G>C p.Asp4505His Missense 92/106 - 9
19-39061260-G-A c.13673G>A p.Arg4558Gln Missense 94/106 - 1
19-39061267-T-C c.13680T>C p.Phe4560Phe Synonymous 94/106 - 1
19-39061278-G-A c.13691G>A p.Arg4564Gln Missense 94/106 - 1
19-39061311-A-C c.13724A>C p.Asn4575Thr Missense 94/106 - 3
19-39062797-G-A c.13885G>A p.Val4629Met Missense 95/106 - 1
19-39062821-A-G c.13909A>G p.Thr4637Ala Missense 95/106 - 2
19-39062822-C-T c.13910C>T p.Thr4637Ile Missense 95/106 - 1
19-39062830-A-G c.13918A>G p.Met4640Val Missense 95/106 - 1
19-39062831-T-G c.13919T>G p.Met4640Arg Missense 95/106 - 3
19-39062832-G-A c.13920G>A p.Met4640Ile Missense 95/106 - 2
19-39062846-G-A c.13934G>A p.Arg4645Gln Missense 95/106 - 1
19-39062852-T-C c.13940T>C p.Leu4647Pro Missense 95/106 - 2
19-39062861-T-C c.13949T>C p.Leu4650Pro Missense 95/106 - 1
19-39062902-T-C c.13990T>C p.Cys4664Arg Missense 95/106 - 3
19-39063821-C-G c.14003C>G p.Pro4668Arg Missense 96/106 - 1
19-39063884-T-A c.14066T>A p.Ile4689Asn Missense 96/106 - 1
19-39063944-C-T c.14126C>T p.Thr4709Met Missense 96/106 - 4
19-39066557-A-G c.14130-2A>G - IntronicSNV - 96/105 1
19-39066596-C-T c.14167C>T p.Arg4723Cys Missense 97/106 - 1
19-39066597-G-A c.14168G>A p.Arg4723His Missense 97/106 - 1
19-39066599-A-C c.14170A>C p.Lys4724Gln Missense 97/106 - 1
19-39068588-CG-GA c.14203_14204delinsGA p.Arg4735Glu Missense 98/106 - 1
19-39068589-G-A c.14204G>A p.Arg4735Gln Missense 98/106 - 1
19-39068595-G-A c.14210G>A p.Arg4737Gln Missense 98/106 - 6
19-39068641-A-C c.14256A>C p.Thr4752Thr Synonymous 98/106 - 1
19-39068824-G-A c.14344G>A p.Gly4782Arg Missense 99/106 - 2
19-39070643-T-C c.14386T>C p.Tyr4796His Missense 100/106 - 1
19-39070644-A-G c.14387A>G p.Tyr4796Cys Missense 100/106 - 6
19-39070671-A-G c.14414A>G p.Tyr4805Cys Missense 100/106 - 1
19-39070679-TT-AA c.14422_14423inv p.Phe4808Asn Missense 100/106 - 1
19-39070681-C-A c.14424C>A p.Phe4808Leu Missense 100/106 - 3
19-39070715-G-A c.14458G>A p.Gly4820Arg Missense 100/106 - 2
19-39070725-C-T c.14468C>T p.Thr4823Met Missense 100/106 - 1
19-39070728-T-C c.14471T>C p.Leu4824Pro Missense 100/106 - 3
19-39070730-C-T c.14473C>T p.Arg4825Cys Missense 100/106 - 1
19-39070734-C-T c.14477C>T p.Thr4826Ile Missense 100/106 - 15
19-39070740-T-G c.14483T>G p.Leu4828Arg Missense 100/106 - 1
19-39070754-C-T c.14497C>T p.His4833Tyr Missense 100/106 - 6
19-39070762-G-T c.14505G>T p.Gly4835Gly Synonymous 100/106 - 2
19-39070762-G-C c.14505G>C p.Gly4835Gly Synonymous 100/106 - 2
19-39070762-G-A c.14505G>A p.Gly4835Gly Synonymous 100/106 - 2
19-39070766-C-G c.14509C>G p.Gln4837Glu Missense 100/106 - 2
19-39070767-CA-C c.14510del p.Gln4837Argfs*3 Frameshift 100/106 - 3
19-39071009-G-A c.14512-1G>A - IntronicSNV - 100/105 1
19-39071010-C-G c.14512C>G p.Leu4838Val Missense 101/106 - 4
19-39071017-T-G c.14519T>G p.Met4840Arg Missense 101/106 - 1
19-39071022-G-A c.14524G>A p.Val4842Met Missense 101/106 - 3
19-39071035-C-T c.14537C>T p.Ala4846Val Missense 101/106 - 1
19-39071037-G-C c.14539G>C p.Val4847Leu Missense 101/106 - 1
19-39071037-G-T c.14539G>T p.Val4847Leu Missense 101/106 - 1
19-39071043-G-A c.14545G>A p.Val4849Ile Missense 101/106 - 11
19-39071056-C-T c.14558C>T p.Thr4853Ile Missense 101/106 - 1
19-39071067-T-C c.14569T>C p.Phe4857Leu Missense 101/106 - 1
19-39071068-T-C c.14570T>C p.Phe4857Ser Missense 101/106 - 2
19-39071079-C-T c.14581C>T p.Arg4861Cys Missense 101/106 - 5
19-39071080-G-A c.14582G>A p.Arg4861His Missense 101/106 - 13
19-39071088-T-C c.14590T>C p.Tyr4864His Missense 101/106 - 3
19-39071089-A-G c.14591A>G p.Tyr4864Cys Missense 101/106 - 2
19-39071121-A-G c.14623A>G p.Met4875Val Missense 101/106 - 1
19-39071122-T-C c.14624T>C p.Met4875Thr Missense 101/106 - 1
19-39071125-A-G c.14627A>G p.Lys4876Arg Missense 101/106 - 2
19-39071143-C-T c.14645C>T p.Thr4882Met Missense 101/106 - 1
19-39073707-C-T c.14647-1876C>T - IntronicSNV - 101/105 1
19-39075613-C-T c.14677C>T p.Arg4893Trp Missense 102/106 - 4
19-39075614-G-A c.14678G>A p.Arg4893Gln Missense 102/106 - 6
19-39075614-G-C c.14678G>C p.Arg4893Pro Missense 102/106 - 1
19-39075616-G-A c.14680G>A p.Ala4894Thr Missense 102/106 - 2
19-39075616-G-C c.14680G>C p.Ala4894Pro Missense 102/106 - 2
19-39075617-C-A c.14681C>A p.Ala4894Asp Missense 102/106 - 2
19-39075617-C-T c.14681C>T p.Ala4894Val Missense 102/106 - 1
19-39075623-G-T c.14687G>T p.Gly4896Val Missense 102/106 - 2
19-39075626-G-T c.14690G>T p.Gly4897Val Missense 102/106 - 1
19-39075629-T-C c.14693T>C p.Ile4898Thr Missense 102/106 - 32
19-39075637-G-A c.14701G>A p.Glu4901Lys Missense 102/106 - 1
19-39075643-G-A c.14707G>A p.Glu4903Lys Missense 102/106 - 1
19-39075653-C-T c.14717C>T p.Ala4906Val Missense 102/106 - 2
19-39075653-C-G c.14717C>G p.Ala4906Gly Missense 102/106 - 1
19-39075667-G-A c.14731G>A p.Glu4911Lys Missense 102/106 - 2
19-39075688-G-A c.14752G>A p.Asp4918Asn Missense 102/106 - 3
19-39075695-C-A c.14759C>A p.Thr4920Asn Missense 102/106 - 1
19-39075697-TT-AC c.14761_14762delinsAC p.Phe4921Thr Missense 102/106 - 1
19-39075698-T-C c.14762T>C p.Phe4921Ser Missense 102/106 - 1
19-39075699-C-G c.14763C>G p.Phe4921Leu Missense 102/106 - 2
19-39075707-T-TTAGACAGGGTGTTGCTCTGTTGCCCTTCTT c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT p.Phe4924_Val4925insArgGlnGlyValAlaLeuLeuProPhePhe InFrameInsertion 102/106 - 1
19-39076581-T-G c.14807T>G p.Leu4936Arg Missense 103/106 - 1
19-39076587-T-C c.14813T>C p.Ile4938Thr Missense 103/106 - 1
19-39076589-G-T c.14815G>T p.Asp4939Tyr Missense 103/106 - 1
19-39076591-C-A c.14817C>A p.Asp4939Glu Missense 103/106 - 2
19-39076592-G-A c.14818G>A p.Ala4940Thr Missense 103/106 - 5
19-39076596-T-G c.14822T>G p.Phe4941Cys Missense 103/106 - 2
19-39076607-C-T c.14833C>T p.Arg4945* Nonsense 103/106 - 1
19-39076763-C-G c.14901C>G p.Asp4967Glu Missense 104/106 - 1
19-39076763-C-A c.14901C>A p.Asp4967Glu Missense 104/106 - 1
19-39076777-C-T c.14915C>T p.Thr4972Ile Missense 104/106 - 1
19-39076780-C-T c.14918C>T p.Pro4973Leu Missense 104/106 - 3
19-39076790-C-G c.14928C>G p.Phe4976Leu Missense 104/106 - 4
19-39076791-G-A c.14929G>A p.Glu4977Lys Missense 104/106 - 1
19-39076801-C-T c.14939C>T p.Thr4980Met Missense 104/106 - 1
19-39078002-G-C c.15059G>C p.Trp5020Ser Missense 106/106 - 1