TSC2 TSC complex subunit 2

Canonical transcript: NM_000548

813 unique variant annotations were identified in 351 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-2098641-T-G c.25T>G p.Ser9Ala Missense 2/42 - 1
16-2098642-C-A c.26C>A p.Ser9* Nonsense 2/42 - 1
16-2098653-GAG-TTT c.37_39delinsTTT p.Glu13Phe Missense 2/42 - 1
16-2098678-T-TT c.62dup p.Thr23Asnfs*12 Frameshift 2/42 - 1
16-2098683-A-G c.67A>G p.Thr23Ala Missense 2/42 - 2
16-2098686-CCG-TTT c.70_72delinsTTT p.Pro24Phe Missense 2/42 - 1
16-2098689-AGG-TGT c.73_75delinsTGT p.Arg25Cys Missense 2/42 - 1
16-2098698-CCC-ATG c.82_84delinsATG p.Pro28Met Missense 2/42 - 1
16-2098716-A-G c.100A>G p.Lys34Glu Missense 2/42 - 2
16-2098719-C-T c.103C>T p.Gln35* Nonsense 2/42 - 1
16-2098725-G-GG c.109dup p.Glu37Glyfs*30 Frameshift 2/42 - 1
16-2098732-TC-AG c.116_117delinsAG p.Ile39Lys Missense 2/42 - 2
16-2098737-A-G c.121A>G p.Thr41Ala Missense 2/42 - 1
16-2098749-ACTGA-A c.133_136del p.Leu45Glufs*3 Frameshift 2/42 - 1
16-2098755-G-A c.138+1G>A - IntronicSNV - 2/41 2
16-2100399-A-G c.139-2A>G - IntronicSNV - 2/41 1
16-2100400-G-A c.139-1G>A - IntronicSNV - 2/41 1
16-2100410-A-G c.148A>G p.Met50Val Missense 3/42 - 1
16-2100416-TG-GA c.154_155delinsGA p.Cys52Asp Missense 3/42 - 1
16-2100431-TC-T c.169del p.Arg57Alafs*4 Frameshift 3/42 - 1
16-2100432-G-A c.170G>A p.Arg57His Missense 3/42 - 2
16-2100440-AT-GA c.178_179delinsGA p.Met60Glu Missense 3/42 - 1
16-2100447-G-A c.185G>A p.Gly62Glu Missense 3/42 - 1
16-2100449-C-G c.187C>G p.Gln63Glu Missense 3/42 - 1
16-2100449-C-T c.187C>T p.Gln63* Nonsense 3/42 - 1
16-2100450-A-AA c.188dup p.Ile64Aspfs*3 Frameshift 3/42 - 1
16-2100452-A-G c.190A>G p.Ile64Val Missense 3/42 - 2
16-2100455-TGT-GAG c.193_195delinsGAG p.Cys65Glu Missense 3/42 - 1
16-2100461-G-A c.199G>A p.Val67Ile Missense 3/42 - 1
16-2100461-G-T c.199G>T p.Val67Phe Missense 3/42 - 1
16-2100468-A-G c.206A>G p.Lys69Arg Missense 3/42 - 1
16-2100476-AA-GC c.214_215delinsGC p.Lys72Ala Missense 3/42 - 1
16-2100481-TT-T c.219del p.Phe73Leufs*33 Frameshift 3/42 - 1
16-2100485-G-A c.223G>A p.Glu75Lys Missense 3/42 - 2
16-2100486-A-G c.224A>G p.Glu75Gly Missense 3/42 - 1
16-2100489-T-A c.225+2T>A - IntronicSNV - 3/41 1
16-2101947-T-C c.226-1396T>C - IntronicSNV - 3/41 1
16-2102258-TT-T c.226-1085del - IntronicDeletion - 3/41 1
16-2103331-T-A c.226-12T>A - IntronicSNV - 3/41 1
16-2103362-G-A c.245G>A p.Trp82* Nonsense 4/42 - 1
16-2103363-G-A c.246G>A p.Trp82* Nonsense 4/42 - 1
16-2103367-G-A c.250G>A p.Ala84Thr Missense 4/42 - 1
16-2103373-GCG-TGT c.256_258delinsTGT p.Ala86Cys Missense 4/42 - 1
16-2103385-C-T c.268C>T p.Gln90* Nonsense 4/42 - 3
16-2103386-A-G c.269A>G p.Gln90Arg Missense 4/42 - 1
16-2103391-G-T c.274G>T p.Glu92* Nonsense 4/42 - 1
16-2103392-A-T c.275A>T p.Glu92Val Missense 4/42 - 3
16-2103394-C-T c.277C>T p.Arg93Trp Missense 4/42 - 1
16-2103406-G-A c.289G>A p.Ala97Thr Missense 4/42 - 1
16-2103409-C-T c.292C>T p.Arg98Trp Missense 4/42 - 2
16-2103424-GC-AA c.307_308delinsAA p.Ala103Asn Missense 4/42 - 1
16-2103430-GCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTC-G c.313_336+35del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/42 4/41 1
16-2103433-A-T c.316A>T p.Lys106* Nonsense 4/42 - 1
16-2104300-G-A c.340G>A p.Glu114Lys Missense 5/42 - 1
16-2104304-G-A c.344G>A p.Arg115His Missense 5/42 - 1
16-2104318-A-G c.358A>G p.Arg120Gly Missense 5/42 - 1
16-2104324-CT-GG c.364_365delinsGG p.Leu122Gly Missense 5/42 - 1
16-2104336-G-T c.376G>T p.Val126Phe Missense 5/42 - 1
16-2104340-T-C c.380T>C p.Ile127Thr Missense 5/42 - 1
16-2104342-A-C c.382A>C p.Lys128Gln Missense 5/42 - 1
16-2104350-C-G c.390C>G p.Tyr130* Nonsense 5/42 - 1
16-2104355-C-G c.395C>G p.Ser132Cys Missense 5/42 - 3
16-2104358-A-T c.398A>T p.Asn133Ile Missense 5/42 - 1
16-2104360-G-A c.400G>A p.Glu134Lys Missense 5/42 - 1
16-2104370-A-G c.410A>G p.His137Arg Missense 5/42 - 1
16-2104372-G-T c.412G>T p.Glu138* Nonsense 5/42 - 1
16-2104375-AG-CT c.415_416inv p.Arg139Leu Missense 5/42 - 1
16-2104389-C-A c.429C>A p.Phe143Leu Missense 5/42 - 3
16-2104389-C-G c.429C>G p.Phe143Leu Missense 5/42 - 3
16-2104387-T-C c.427T>C p.Phe143Leu Missense 5/42 - 3
16-2104393-G-T c.433G>T p.Ala145Ser Missense 5/42 - 1
16-2104393-G-A c.433G>A p.Ala145Thr Missense 5/42 - 2
16-2104397-T-G c.437T>G p.Leu146Arg Missense 5/42 - 1
16-2104400-C-A c.440C>A p.Thr147Lys Missense 5/42 - 1
16-2104404-C-G c.444C>G p.Asp148Glu Missense 5/42 - 1
16-2104404-C-A c.444C>A p.Asp148Glu Missense 5/42 - 1
16-2104404-ACA-A c.444_445del p.Asp148Glufs*14 Frameshift 5/42 - 1
16-2104411-A-T c.451A>T p.Arg151* Nonsense 5/42 - 1
16-2104414-C-G c.454C>G p.His152Asp Missense 5/42 - 2
16-2104419-TC-T c.459del p.Thr154Profs*28 Frameshift 5/42 - 1
16-2104438-C-G c.478C>G p.Leu160Val Missense 5/42 - 1
16-2104446-G-T c.481+5G>T - IntronicSNV - 5/41 1
16-2104446-G-A c.481+5G>A - IntronicSNV - 5/41 1
16-2105055-A-C c.482-348A>C - IntronicSNV - 5/41 6
16-2105055-A-G c.482-348A>G - IntronicSNV - 5/41 6
16-2105289-T-C c.482-114T>C - IntronicSNV - 5/41 1
16-2105335-C-G c.482-68C>G - IntronicSNV - 5/41 1
16-2105400-C-T c.482-3C>T - IntronicSNV - 5/41 2
16-2105403-C-T c.482C>T p.Ala161Val Missense 6/42 - 1
16-2105409-T-C c.488T>C p.Phe163Ser Missense 6/42 - 1
16-2105420-T-A c.499T>A p.Trp167Arg Missense 6/42 - 1
16-2105420-T-C c.499T>C p.Trp167Arg Missense 6/42 - 1
16-2105421-G-T c.500G>T p.Trp167Leu Missense 6/42 - 1
16-2105469-T-G c.548T>G p.Leu183Trp Missense 6/42 - 1
16-2105478-TT-T c.557del p.Phe186Serfs*16 Frameshift 6/42 - 1
16-2105480-A-C c.559A>C p.Asn187His Missense 6/42 - 1
16-2105481-A-T c.560A>T p.Asn187Ile Missense 6/42 - 1
16-2105490-A-AA c.569dup p.Tyr190* Nonsense 6/42 - 1
16-2105502-A-T c.581A>T p.Tyr194Phe Missense 6/42 - 1
16-2105507-G-A c.586G>A p.Ala196Thr Missense 6/42 - 4
16-2105514-T-C c.593T>C p.Met198Thr Missense 6/42 - 1
16-2105523-A-G c.599+3A>G - IntronicSNV - 6/41 1
16-2106052-C-T c.600-145C>T - IntronicSNV - 6/41 1
16-2106206-T-A c.609T>A p.Cys203* Nonsense 7/42 - 1
16-2106220-G-A c.623G>A p.Arg208Gln Missense 7/42 - 1
16-2106230-CC-C c.633del p.Ser212Leufs*4 Frameshift 7/42 - 1
16-2106231-T-G c.634T>G p.Ser212Ala Missense 7/42 - 1
16-2106648-T-G c.652T>G p.Ser218Ala Missense 8/42 - 1
16-2106652-T-C c.656T>C p.Leu219Pro Missense 8/42 - 1
16-2106661-T-C c.665T>C p.Leu222Pro Missense 8/42 - 1
16-2106664-A-AA c.668dup p.Asp223Glufs*12 Frameshift 8/42 - 1
16-2106688-CTGCC-C c.692_695del p.Leu231Argfs*28 Frameshift 8/42 - 1
16-2106695-T-TT c.699dup p.Glu234* Nonsense 8/42 - 2
16-2106698-G-GC c.702_703insC p.Ser235Glnfs*103 Frameshift 8/42 - 1
16-2106699-AG-CC c.703_704delinsCC p.Ser235Pro Missense 8/42 - 1
16-2106724-CTCTGTCGC-C c.728_735del p.Leu243Hisfs*92 Frameshift 8/42 - 1
16-2106726-T-C c.730T>C p.Cys244Arg Missense 8/42 - 3
16-2106727-G-T c.731G>T p.Cys244Phe Missense 8/42 - 1
16-2106727-G-A c.731G>A p.Cys244Tyr Missense 8/42 - 1
16-2106732-A-G c.736A>G p.Thr246Ala Missense 8/42 - 2
16-2106755-C-A c.759C>A p.Cys253* Nonsense 8/42 - 1
16-2106759-C-T c.763C>T p.Pro255Ser Missense 8/42 - 1
16-2106770-G-C c.774G>C p.Lys258Asn Missense 8/42 - 1
16-2106771-G-A c.774+1G>A - IntronicSNV - 8/41 1
16-2107112-C-T c.781C>T p.Arg261Trp Missense 9/42 - 2
16-2107113-G-C c.782G>C p.Arg261Pro Missense 9/42 - 1
16-2107121-C-CC c.790dup p.Leu264Profs*74 Frameshift 9/42 - 1
16-2107121-CCT-C c.790_791del p.Leu264Trpfs*73 Frameshift 9/42 - 1
16-2107122-T-C c.791T>C p.Leu264Pro Missense 9/42 - 1
16-2107146-C-A c.815C>A p.Ala272Asp Missense 9/42 - 1
16-2107157-CAT-C c.826_827del p.Met276Valfs*61 Frameshift 9/42 - 1
16-2107157-CA-C c.826del p.Met276Cysfs*17 Frameshift 9/42 - 1
16-2107164-A-C c.833A>C p.His278Pro Missense 9/42 - 1
16-2107169-A-G c.838A>G p.Met280Val Missense 9/42 - 1
16-2107170-T-C c.839T>C p.Met280Thr Missense 9/42 - 1
16-2107174-G-T c.843G>T p.Glu281Asp Missense 9/42 - 1
16-2107174-G-C c.843G>C p.Glu281Asp Missense 9/42 - 1
16-2107180-G-A c.848+1G>A - IntronicSNV - 9/41 1
16-2107182-TG-T c.848+3del - IntronicDeletion - 9/41 1
16-2107460-C-T c.848+281C>T - IntronicSNV - 9/41 1
16-2108070-C-A c.849-678C>A - IntronicSNV - 9/41 1
16-2108733-G-A c.849-15G>A - IntronicSNV - 9/41 1
16-2108747-G-A c.849-1G>A - IntronicSNV - 9/41 1
16-2108755-A-G c.856A>G p.Met286Val Missense 10/42 - 7
16-2108765-C-T c.866C>T p.Ala289Val Missense 10/42 - 2
16-2108774-T-C c.875T>C p.Leu292Pro Missense 10/42 - 2
16-2108780-G-A c.881G>A p.Gly294Glu Missense 10/42 - 4
16-2108785-G-A c.886G>A p.Val296Met Missense 10/42 - 1
16-2108793-TT-T c.894del p.Phe298Leufs*65 Frameshift 10/42 - 1
16-2108795-T-G c.896T>G p.Val299Gly Missense 10/42 - 2
16-2108795-T-A c.896T>A p.Val299Glu Missense 10/42 - 1
16-2108798-G-T c.899G>T p.Gly300Val Missense 10/42 - 2
16-2108798-G-A c.899G>A p.Gly300Asp Missense 10/42 - 1
16-2108808-TCTGGGGAGCCCACCGGCTCT-T c.909_928del p.Trp304Phefs*27 Frameshift 10/42 - 1
16-2108809-T-C c.910T>C p.Trp304Arg Missense 10/42 - 1
16-2108810-G-A c.911G>A p.Trp304* Nonsense 10/42 - 1
16-2108811-G-A c.912G>A p.Trp304* Nonsense 10/42 - 1
16-2108812-G-T c.913G>T p.Gly305* Nonsense 10/42 - 1
16-2108821-C-T c.922C>T p.Arg308Trp Missense 10/42 - 2
16-2108844-G-GG c.945dup p.Pro316Alafs*22 Frameshift 10/42 - 1
16-2108851-T-G c.952T>G p.Ser318Ala Missense 10/42 - 3
16-2108859-G-C c.960G>C p.Leu320Phe Missense 10/42 - 1
16-2108859-G-T c.960G>T p.Leu320Phe Missense 10/42 - 1
16-2108871-C-A c.972C>A p.Tyr324* Nonsense 10/42 - 1
16-2108871-C-G c.972C>G p.Tyr324* Nonsense 10/42 - 1
16-2108882-G-A c.975+8G>A - IntronicSNV - 10/41 1
16-2110571-C-G c.976-100C>G - IntronicSNV - 10/41 2
16-2110571-C-T c.976-100C>T - IntronicSNV - 10/41 2
16-2110656-G-A c.976-15G>A - IntronicSNV - 10/41 4
16-2110670-G-A c.976-1G>A - IntronicSNV - 10/41 1
16-2110677-G-C c.982G>C p.Ala328Pro Missense 11/42 - 1
16-2110685-G-GT c.990_991insT p.Asn331* Nonsense 11/42 - 1
16-2110695-GG-G c.1000del p.Val334Cysfs*29 Frameshift 11/42 - 1
16-2110696-T-G c.1001T>G p.Val334Gly Missense 11/42 - 1
16-2110698-T-G c.1003T>G p.Ser335Ala Missense 11/42 - 1
16-2110703-T-G c.1008T>G p.Tyr336* Nonsense 11/42 - 1
16-2110704-G-A c.1009G>A p.Glu337Lys Missense 11/42 - 1
16-2110714-T-C c.1019T>C p.Leu340Pro Missense 11/42 - 2
16-2110716-T-C c.1021T>C p.Ser341Pro Missense 11/42 - 1
16-2110716-T-G c.1021T>G p.Ser341Ala Missense 11/42 - 1
16-2110717-CC-GG c.1022_1023inv p.Ser341Trp Missense 11/42 - 1
16-2110725-AG-GC c.1030_1031delinsGC p.Arg344Ala Missense 11/42 - 1
16-2110729-T-G c.1034T>G p.Leu345Arg Missense 11/42 - 1
16-2110735-A-G c.1040A>G p.Lys347Arg Missense 11/42 - 1
16-2110753-T-C c.1058T>C p.Leu353Pro Missense 11/42 - 1
16-2110755-C-T c.1060C>T p.Gln354* Nonsense 11/42 - 1
16-2110768-G-A c.1073G>A p.Trp358* Nonsense 11/42 - 3
16-2110769-G-A c.1074G>A p.Trp358* Nonsense 11/42 - 3
16-2110775-T-TT c.1080dup p.Leu361Serfs*26 Frameshift 11/42 - 1
16-2110776-C-G c.1081C>G p.Leu361Val Missense 11/42 - 2
16-2110777-T-C c.1082T>C p.Leu361Pro Missense 11/42 - 1
16-2110780-T-C c.1085T>C p.Leu362Pro Missense 11/42 - 1
16-2110787-C-G c.1092C>G p.Ile364Met Missense 11/42 - 1
16-2110788-CATC-C c.1093_1095del p.Ile365del InFrameDeletion 11/42 - 2
16-2110795-G-C c.1100G>C p.Arg367Pro Missense 11/42 - 1
16-2110795-G-A c.1100G>A p.Arg367Gln Missense 11/42 - 5
16-2110801-T-C c.1106T>C p.Leu369Pro Missense 11/42 - 1
16-2110803-C-T c.1108C>T p.Gln370* Nonsense 11/42 - 1
16-2110805-G-A c.1110G>A p.Gln370Gln Synonymous 11/42 - 1
16-2110812-C-T c.1117C>T p.Gln373* Nonsense 11/42 - 2
16-2110813-A-C c.1118A>C p.Gln373Pro Missense 11/42 - 2
16-2110815-G-A c.1119+1G>A - IntronicSNV - 11/41 1
16-2110815-G-C c.1119+1G>C - IntronicSNV - 11/41 1
16-2110816-T-G c.1119+2T>G - IntronicSNV - 11/41 1
16-2111230-A-G c.1119+416A>G - IntronicSNV - 11/41 1
16-2111872-A-G c.1120A>G p.Thr374Ala Missense 12/42 - 1
16-2111872-GACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGA-G c.1120_1178del p.Thr374Alafs*3 Unclassified 12/42 - 1
16-2111872-GACCTTGGACAG-G c.1120_1130del p.Thr374Profs*9 SpliceAcceptorDeletion 12/42 - 1
16-2111891-T-C c.1139T>C p.Leu380Pro Missense 12/42 - 1
16-2111902-GT-CC c.1150_1151delinsCC p.Val384Pro Missense 12/42 - 1
16-2111912-T-C c.1160T>C p.Leu387Pro Missense 12/42 - 1
16-2111917-AC-GA c.1165_1166delinsGA p.Thr389Asp Missense 12/42 - 1
16-2111917-A-G c.1165A>G p.Thr389Ala Missense 12/42 - 1
16-2111928-G-A c.1176G>A p.Glu392Glu Synonymous 12/42 - 1
16-2111929-G-T c.1177G>T p.Glu393* Nonsense 12/42 - 1
16-2111941-C-T c.1189C>T p.Gln397* Nonsense 12/42 - 1
16-2111947-G-T c.1195G>T p.Glu399* Nonsense 12/42 - 1
16-2111956-GGG-AGC c.1204_1206delinsAGC p.Gly402Ser Missense 12/42 - 1
16-2111962-C-T c.1210C>T p.Gln404* Nonsense 12/42 - 1
16-2111971-T-G c.1219T>G p.Tyr407Asp Missense 12/42 - 1
16-2111972-TACTTTGAACTGGTGGAGAGAT-T c.1220_1240del p.Tyr407_Arg413del InFrameDeletion 12/42 - 2
16-2111974-T-G c.1222T>G p.Phe408Val Missense 12/42 - 1
16-2111978-GAACTG-G c.1226_1230del p.Glu409Glyfs*10 Frameshift 12/42 - 1
16-2111980-C-CG c.1228_1229insG p.Leu410Argfs*11 Frameshift 12/42 - 1
16-2111981-T-G c.1229T>G p.Leu410Arg Missense 12/42 - 1
16-2111986-GA-TC c.1234_1235inv p.Glu412Ser Missense 12/42 - 1
16-2111987-A-T c.1235A>T p.Glu412Val Missense 12/42 - 1
16-2111989-GAGA-G c.1237_1239del p.Arg413del InFrameDeletion 12/42 - 1
16-2111996-C-T c.1244C>T p.Ala415Val Missense 12/42 - 1
16-2112004-AG-CC c.1252_1253delinsCC p.Arg418Pro Missense 12/42 - 1
16-2112006-G-T c.1254G>T p.Arg418Ser Missense 12/42 - 1
16-2112006-G-C c.1254G>C p.Arg418Ser Missense 12/42 - 1
16-2112007-C-T c.1255C>T p.Pro419Ser Missense 12/42 - 2
16-2112496-A-G c.1258-2A>G - IntronicSNV - 12/41 1
16-2112496-CA-C c.1258-2del - IntronicDeletion - 12/41 1
16-2112497-G-C c.1258-1G>C - IntronicSNV - 12/41 1
16-2112504-TC-GA c.1264_1265inv p.Ser422Asp Missense 13/42 - 1
16-2112504-CT-C c.1264del p.Ser422Profs*3 Frameshift 13/42 - 1
16-2112504-T-G c.1264T>G p.Ser422Ala Missense 13/42 - 2
16-2112505-C-T c.1265C>T p.Ser422Phe Missense 13/42 - 1
16-2112510-C-T c.1270C>T p.Leu424Leu Synonymous 13/42 - 1
16-2112522-T-G c.1282T>G p.Ser428Ala Missense 13/42 - 1
16-2112523-TCCT-T c.1283_1285del p.Ser428del InFrameDeletion 13/42 - 1
16-2112527-T-TT c.1287dup p.Arg430* Nonsense 13/42 - 1
16-2112532-C-T c.1292C>T p.Ala431Val Missense 13/42 - 4
16-2112562-G-A c.1322G>A p.Trp441* Nonsense 13/42 - 1
16-2112563-G-A c.1323G>A p.Trp441* Nonsense 13/42 - 1
16-2112576-C-T c.1336C>T p.Gln446* Nonsense 13/42 - 1
16-2112582-C-T c.1342C>T p.Leu448Leu Synonymous 13/42 - 1
16-2112582-C-G c.1342C>G p.Leu448Val Missense 13/42 - 1
16-2112583-T-G c.1343T>G p.Leu448Arg Missense 13/42 - 1
16-2112588-G-T c.1348G>T p.Glu450* Nonsense 13/42 - 1
16-2112591-AGA-TGT c.1351_1353delinsTGT p.Arg451Cys Missense 13/42 - 4
16-2112601-G-A c.1361G>A p.Arg454Lys Missense 13/42 - 1
16-2112963-C-A c.1362-10C>A - IntronicSNV - 13/41 1
16-2112983-C-T c.1372C>T p.Arg458* Nonsense 14/42 - 5
16-2112989-G-A c.1378G>A p.Ala460Thr Missense 14/42 - 3
16-2112998-A-G c.1387A>G p.Ile463Val Missense 14/42 - 1
16-2113001-AA-GC c.1390_1391delinsGC p.Lys464Ala Missense 14/42 - 1
16-2113019-T-G c.1408T>G p.Ser470Ala Missense 14/42 - 1
16-2113026-GTG-G c.1415_1416del p.Val472Alafs*9 Frameshift 14/42 - 1
16-2113041-G-A c.1430G>A p.Arg477Lys Missense 14/42 - 1
16-2113044-CAGTTC-C c.1433_1437del p.Gln478Leufs*2 Frameshift 14/42 - 1
16-2113125-A-G c.1443+71A>G - IntronicSNV - 14/41 1
16-2113464-C-T c.1443+410C>T - IntronicSNV - 14/41 1
16-2114271-A-G c.1444-2A>G - IntronicSNV - 14/41 1
16-2114271-A-C c.1444-2A>C - IntronicSNV - 14/41 2
16-2114272-G-C c.1444-1G>C - IntronicSNV - 14/41 1
16-2114286-A-T c.1457A>T p.Asn486Ile Missense 15/42 - 1
16-2114288-T-G c.1459T>G p.Ser487Ala Missense 15/42 - 2
16-2114289-CA-GT c.1460_1461delinsGT p.Ser487Cys Missense 15/42 - 1
16-2114290-CAG-C c.1461_1462del p.Val488Glyfs*12 Frameshift 15/42 - 1
16-2114297-A-C c.1468A>C p.Ile490Leu Missense 15/42 - 1
16-2114302-G-A c.1473G>A p.Ser491Ser Synonymous 15/42 - 1
16-2114306-C-G c.1477C>G p.Leu493Val Missense 15/42 - 1
16-2114320-CC-C c.1491del p.Glu498Argfs*37 Frameshift 15/42 - 1
16-2114340-T-A c.1511T>A p.Val504Asp Missense 15/42 - 1
16-2114342-C-T c.1513C>T p.Arg505* Nonsense 15/42 - 7
16-2114343-G-A c.1514G>A p.Arg505Gln Missense 15/42 - 1
16-2114345-A-G c.1516A>G p.Lys506Glu Missense 15/42 - 1
16-2114382-G-C c.1553G>C p.Gly518Ala Missense 15/42 - 1
16-2114391-C-G c.1562C>G p.Thr521Arg Missense 15/42 - 1
16-2114393-CA-AC c.1564_1565delinsAC p.His522Thr Missense 15/42 - 2
16-2114403-A-G c.1574A>G p.Asn525Ser Missense 15/42 - 3
16-2114407-C-T c.1578C>T p.Ser526Ser Synonymous 15/42 - 2
16-2114422-C-T c.1593C>T p.Ile531Ile Synonymous 15/42 - 1
16-2114426-A-C c.1597A>C p.Lys533Gln Missense 15/42 - 2
16-2114426-GAAG-G c.1597_1599del p.Lys533del InFrameDeletion 15/42 - 1
16-2114430-T-C c.1599+2T>C - IntronicSNV - 15/41 1
16-2114644-T-G c.1599+216T>G - IntronicSNV - 15/41 1
16-2115519-G-C c.1600-1G>C - IntronicSNV - 15/41 1
16-2115520-GTG-ATC c.1600_1602delinsATC p.Val534Ile Missense 16/42 - 1
16-2115529-C-T c.1609C>T p.Arg537Cys Missense 16/42 - 1
16-2115538-TC-GA c.1618_1619inv p.Ser540Asp Missense 16/42 - 1
16-2115538-T-G c.1618T>G p.Ser540Ala Missense 16/42 - 1
16-2115556-G-A c.1636G>A p.Glu546Lys Missense 16/42 - 1
16-2115562-A-AA c.1642dup p.Arg548Lysfs*41 Frameshift 16/42 - 1
16-2115587-C-T c.1667C>T p.Ser556Phe Missense 16/42 - 1
16-2115590-T-A c.1670T>A p.Leu557* Nonsense 16/42 - 1
16-2115599-T-G c.1679T>G p.Val560Gly Missense 16/42 - 1
16-2115613-CC-C c.1693del p.Leu565Trpfs*133 Frameshift 16/42 - 1
16-2115819-A-C c.1716+183A>C - IntronicSNV - 16/41 5
16-2115819-A-G c.1716+183A>G - IntronicSNV - 16/41 5
16-2119187-T-C c.1717-1270T>C - IntronicSNV - 16/41 1
16-2119403-C-T c.1717-1054C>T - IntronicSNV - 16/41 1
16-2119771-G-A c.1717-686G>A - IntronicSNV - 16/41 2
16-2120402-T-C c.1717-55T>C - IntronicSNV - 16/41 2
16-2120427-G-A c.1717-30G>A - IntronicSNV - 16/41 1
16-2120430-G-A c.1717-27G>A - IntronicSNV - 16/41 1
16-2120434-T-G c.1717-23T>G - IntronicSNV - 16/41 1
16-2120456-G-C c.1717-1G>C - IntronicSNV - 16/41 1
16-2120464-T-C c.1724T>C p.Leu575Pro Missense 17/42 - 2
16-2120494-G-A c.1754G>A p.Arg585His Missense 17/42 - 1
16-2120501-T-A c.1761T>A p.Tyr587* Nonsense 17/42 - 1
16-2120501-T-G c.1761T>G p.Tyr587* Nonsense 17/42 - 1
16-2120502-G-A c.1762G>A p.Glu588Lys Missense 17/42 - 1
16-2120509-T-G c.1769T>G p.Leu590Arg Missense 17/42 - 1
16-2120511-G-A c.1771G>A p.Val591Ile Missense 17/42 - 1
16-2120518-A-G c.1778A>G p.His593Arg Missense 17/42 - 1
16-2120530-A-G c.1790A>G p.His597Arg Missense 17/42 - 1
16-2120532-T-C c.1792T>C p.Tyr598His Missense 17/42 - 3
16-2120534-C-G c.1794C>G p.Tyr598* Nonsense 17/42 - 1
16-2120536-A-T c.1796A>T p.Lys599Met Missense 17/42 - 2
16-2120542-AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGC-A c.1802_1839+21del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/42 17/41 1
16-2120543-C-G c.1803C>G p.Ser601Arg Missense 17/42 - 1
16-2120548-C-G c.1808C>G p.Thr603Ser Missense 17/42 - 1
16-2120547-A-T c.1807A>T p.Thr603Ser Missense 17/42 - 1
16-2120550-CT-AC c.1810_1811delinsAC p.Leu604Thr Missense 17/42 - 1
16-2120556-A-G c.1816A>G p.Ile606Val Missense 17/42 - 1
16-2120559-G-A c.1819G>A p.Ala607Thr Missense 17/42 - 2
16-2120560-C-A c.1820C>A p.Ala607Glu Missense 17/42 - 1
16-2120562-AGC-GAG c.1822_1824delinsGAG p.Ser608Glu Missense 17/42 - 1
16-2120571-C-T c.1831C>T p.Arg611Trp Missense 17/42 - 9
16-2120572-G-A c.1832G>A p.Arg611Gln Missense 17/42 - 23
16-2120575-T-C c.1835T>C p.Leu612Pro Missense 17/42 - 1
16-2120785-C-T c.1839+206C>T - IntronicSNV - 17/41 1
16-2121509-A-T c.1840-2A>T - IntronicSNV - 17/41 1
16-2121512-C-A c.1841C>A p.Ala614Asp Missense 18/42 - 2
16-2121515-T-C c.1844T>C p.Phe615Ser Missense 18/42 - 1
16-2121524-T-C c.1853T>C p.Leu618Pro Missense 18/42 - 1
16-2121535-C-T c.1864C>T p.Arg622Trp Missense 18/42 - 4
16-2121538-G-T c.1867G>T p.Ala623Ser Missense 18/42 - 1
16-2121546-A-AA c.1875dup p.Leu626Thrfs*31 Frameshift 18/42 - 1
16-2121553-C-G c.1882C>G p.Arg628Gly Missense 18/42 - 1
16-2121556-CT-GC c.1885_1886delinsGC p.Leu629Ala Missense 18/42 - 1
16-2121563-T-C c.1892T>C p.Leu631Pro Missense 18/42 - 1
16-2121576-T-A c.1905T>A p.Asp635Glu Missense 18/42 - 1
16-2121576-T-G c.1905T>G p.Asp635Glu Missense 18/42 - 1
16-2121582-C-G c.1911C>G p.Val637Val Synonymous 18/42 - 1
16-2121582-C-T c.1911C>T p.Val637Val Synonymous 18/42 - 1
16-2121582-C-A c.1911C>A p.Val637Val Synonymous 18/42 - 1
16-2121583-G-A c.1912G>A p.Val638Met Missense 18/42 - 2
16-2121586-C-T c.1915C>T p.Arg639Trp Missense 18/42 - 1
16-2121601-T-G c.1930T>G p.Cys644Gly Missense 18/42 - 1
16-2121610-G-A c.1939G>A p.Asp647Asn Missense 18/42 - 3
16-2121615-C-A c.1944C>A p.Tyr648* Nonsense 18/42 - 1
16-2121615-C-G c.1944C>G p.Tyr648* Nonsense 18/42 - 1
16-2121814-C-CA c.1976_1977insA p.Ser660Glnfs*43 Frameshift 19/42 - 1
16-2121819-G-A c.1981G>A p.Gly661Ser Missense 19/42 - 1
16-2121823-C-T c.1985C>T p.Pro662Leu Missense 19/42 - 1
16-2121828-T-G c.1990T>G p.Ser664Ala Missense 19/42 - 1
16-2121844-C-T c.2006C>T p.Pro669Leu Missense 19/42 - 1
16-2121846-C-T c.2008C>T p.Pro670Ser Missense 19/42 - 1
16-2121849-G-T c.2011G>T p.Gly671Cys Missense 19/42 - 1
16-2121870-G-A c.2032G>A p.Ala678Thr Missense 19/42 - 5
16-2121872-C-T c.2034C>T p.Ala678Ala Synonymous 19/42 - 1
16-2121888-G-A c.2050G>A p.Val684Met Missense 19/42 - 1
16-2121909-CC-C c.2071del p.Arg691Alafs*7 Frameshift 19/42 - 1
16-2121921-C-T c.2083C>T p.Gln695* Nonsense 19/42 - 2
16-2121924-T-C c.2086T>C p.Cys696Arg Missense 19/42 - 1
16-2121925-G-A c.2087G>A p.Cys696Tyr Missense 19/42 - 2
16-2121930-A-T c.2092A>T p.Lys698* Nonsense 19/42 - 4
16-2122156-AGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCC-A c.2098-86_2098-28del - Unclassified - 19/41 1
16-2122241-G-A c.2098-1G>A - IntronicSNV - 19/41 3
16-2122242-G-C c.2098G>C p.Glu700Gln Missense 20/42 - 1
16-2122243-A-G c.2099A>G p.Glu700Gly Missense 20/42 - 1
16-2122247-T-G c.2103T>G p.Ser701Ser Synonymous 20/42 - 1
16-2122247-T-A c.2103T>A p.Ser701Ser Synonymous 20/42 - 1
16-2122247-T-C c.2103T>C p.Ser701Ser Synonymous 20/42 - 1
16-2122253-G-A c.2109G>A p.Trp703* Nonsense 20/42 - 1
16-2122252-G-A c.2108G>A p.Trp703* Nonsense 20/42 - 1
16-2122269-G-T c.2125G>T p.Val709Phe Missense 20/42 - 1
16-2122282-T-C c.2138T>C p.Leu713Pro Missense 20/42 - 1
16-2122284-C-T c.2140C>T p.Pro714Ser Missense 20/42 - 1
16-2122291-C-T c.2147C>T p.Ser716Phe Missense 20/42 - 1
16-2122292-C-T c.2148C>T p.Ser716Ser Synonymous 20/42 - 1
16-2122294-T-C c.2150T>C p.Leu717Pro Missense 20/42 - 1
16-2122296-C-T c.2152C>T p.Arg718Cys Missense 20/42 - 1
16-2122299-T-C c.2155T>C p.Tyr719His Missense 20/42 - 2
16-2122300-A-T c.2156A>T p.Tyr719Phe Missense 20/42 - 1
16-2122311-A-G c.2167A>G p.Ile723Val Missense 20/42 - 1
16-2122311-CAT-C c.2167_2168del p.Ile723Leufs*38 Frameshift 20/42 - 1
16-2122316-T-TT c.2172dup p.Thr725Tyrfs*37 Frameshift 20/42 - 1
16-2122320-TT-T c.2176del p.Ser726Profs*45 Frameshift 20/42 - 1
16-2122327-G-T c.2183G>T p.Cys728Phe Missense 20/42 - 1
16-2122329-AG-GC c.2185_2186delinsGC p.Ser729Ala Missense 20/42 - 1
16-2122338-C-T c.2194C>T p.Gln732* Nonsense 20/42 - 1
16-2122341-C-G c.2197C>G p.Leu733Val Missense 20/42 - 2
16-2122354-T-C c.2210T>C p.Leu737Pro Missense 20/42 - 2
16-2122366-GTACCATGG-G c.2220+2_2220+9del - IntronicDeletion - 20/41 1
16-2122724-C-T c.2221-126C>T - IntronicSNV - 20/41 1
16-2122849-G-C c.2221-1G>C - IntronicSNV - 20/41 1
16-2122864-AGACACTGGAGCGGCT-A c.2235_2249del p.Lys745_Leu750delinsAsn MultiAAMissense 21/42 - 1
16-2122865-GACACTGGAGCGGCTC-G c.2236_2250del p.Thr746_Leu750del InFrameDeletion 21/42 - 1
16-2122880-C-T c.2251C>T p.Arg751* Nonsense 21/42 - 10
16-2122881-G-A c.2252G>A p.Arg751Gln Missense 21/42 - 1
16-2122914-T-A c.2285T>A p.Leu762* Nonsense 21/42 - 1
16-2122924-CC-C c.2295del p.Val766Trpfs*5 Frameshift 21/42 - 1
16-2122935-T-A c.2306T>A p.Val769Glu Missense 21/42 - 1
16-2122938-CTGACAGC-C c.2309_2315del p.Leu770Hisfs*2 Frameshift 21/42 - 1
16-2122941-C-G c.2312C>G p.Thr771Arg Missense 21/42 - 1
16-2122943-G-A c.2314G>A p.Ala772Thr Missense 21/42 - 1
16-2122949-AA-A c.2320del p.Ile774Serfs*55 Frameshift 21/42 - 1
16-2122955-T-G c.2326T>G p.Tyr776Asp Missense 21/42 - 1
16-2122982-C-T c.2353C>T p.Gln785* Nonsense 21/42 - 1
16-2122985-G-T c.2355+1G>T - IntronicSNV - 21/41 1
16-2122986-GTAGG-G c.2355+2_2355+5del - SpliceDonorDeletion - 21/41 1
16-2124201-GCGCGAGA-G c.2356_2362del p.Arg786Trpfs*41 SpliceAcceptorDeletion 22/42 - 1
16-2124225-C-T c.2380C>T p.Gln794* Nonsense 22/42 - 3
16-2124229-G-GG c.2384dup p.Leu796Profs*22 Frameshift 22/42 - 1
16-2124249-A-AA c.2404dup p.Ser802Lysfs*16 Frameshift 22/42 - 1
16-2124290-G-T c.2445G>T p.Met815Ile Missense 22/42 - 1
16-2124292-C-T c.2447C>T p.Pro816Leu Missense 22/42 - 1
16-2124293-T-TT c.2448dup p.Asp817* Nonsense 22/42 - 1
16-2124304-ATCA-A c.2459_2461del p.Ile820del InFrameDeletion 22/42 - 1
16-2124306-A-T c.2461A>T p.Lys821* Nonsense 22/42 - 1
16-2124321-C-A c.2476C>A p.Leu826Met Missense 22/42 - 1
16-2124387-TC-GA c.2542_2543inv p.Ser848Asp Missense 22/42 - 1
16-2124390-A-G c.2545A>G p.Thr849Ala Missense 22/42 - 1
16-2124435-T-A c.2545+45T>A - IntronicSNV - 22/41 1
16-2124981-C-G c.2545+591C>G - IntronicSNV - 22/41 1
16-2125798-A-T c.2546-2A>T - IntronicSNV - 22/41 1
16-2125810-G-GG c.2556dup p.Leu853Alafs*30 Frameshift 23/42 - 1
16-2125825-AC-A c.2571del p.Tyr857* Frameshift 23/42 - 1
16-2125834-T-C c.2580T>C p.Phe860Phe Synonymous 23/42 - 6
16-2125834-T-G c.2580T>G p.Phe860Leu Missense 23/42 - 4
16-2125875-C-T c.2621C>T p.Pro874Leu Missense 23/42 - 2
16-2125886-C-T c.2632C>T p.Pro878Ser Missense 23/42 - 1
16-2125894-G-C c.2639+1G>C - IntronicSNV - 23/41 1
16-2125937-C-G c.2639+44C>G - IntronicSNV - 23/41 1
16-2126068-G-T c.2640-1G>T - IntronicSNV - 23/41 1
16-2126072-TT-T c.2643del p.Phe881Leufs*13 Frameshift 24/42 - 1
16-2126076-C-T c.2647C>T p.Gln883* Nonsense 24/42 - 2
16-2126081-C-T c.2652C>T p.Tyr884Tyr Synonymous 24/42 - 1
16-2126119-T-C c.2690T>C p.Phe897Ser Missense 24/42 - 1
16-2126139-TT-GC c.2710_2711delinsGC p.Phe904Ala Missense 24/42 - 1
16-2126142-C-G c.2713C>G p.Arg905Gly Missense 24/42 - 1
16-2126142-C-T c.2713C>T p.Arg905Trp Missense 24/42 - 7
16-2126143-G-A c.2714G>A p.Arg905Gln Missense 24/42 - 11
16-2126166-CAC-C c.2737_2738del p.Thr913* Frameshift 24/42 - 1
16-2126168-T-TT c.2739dup p.Lys914* Nonsense 24/42 - 1
16-2126172-G-A c.2742+1G>A - IntronicSNV - 24/41 1
16-2126496-T-C c.2747T>C p.Leu916Pro Missense 25/42 - 1
16-2126496-T-G c.2747T>G p.Leu916Arg Missense 25/42 - 1
16-2126520-TTT-T c.2771_2772del p.Phe924* Frameshift 25/42 - 1
16-2126533-C-CC c.2784dup p.Glu929Argfs*11 Frameshift 25/42 - 1
16-2126541-A-C c.2792A>C p.Asp931Ala Missense 25/42 - 1
16-2126556-G-T c.2807G>T p.Arg936Leu Missense 25/42 - 1
16-2126564-AGT-GAG c.2815_2817delinsGAG p.Ser939Glu Missense 25/42 - 1
16-2126564-AG-GC c.2815_2816delinsGC p.Ser939Ala Missense 25/42 - 12
16-2126573-G-T c.2824G>T p.Glu942* Nonsense 25/42 - 1
16-2126582-AAG-GAC c.2833_2835delinsGAC p.Lys945Asp Missense 25/42 - 1
16-2126583-A-G c.2834A>G p.Lys945Arg Missense 25/42 - 1
16-2126588-T-C c.2837+2T>C - IntronicSNV - 25/41 1
16-2127477-G-A c.2838-122G>A - IntronicSNV - 25/41 2
16-2127614-A-C c.2853A>C p.Arg951Ser Missense 26/42 - 1
16-2127614-A-T c.2853A>T p.Arg951Ser Missense 26/42 - 1
16-2127620-C-CC c.2859dup p.Lys954Glnfs*6 Frameshift 26/42 - 1
16-2127622-A-G c.2861A>G p.Lys954Arg Missense 26/42 - 3
16-2127634-A-G c.2873A>G p.Asn958Ser Missense 26/42 - 1
16-2127640-C-T c.2879C>T p.Ser960Phe Missense 26/42 - 2
16-2127648-G-A c.2887G>A p.Val963Met Missense 26/42 - 1
16-2127681-G-A c.2920G>A p.Ala974Thr Missense 26/42 - 1
16-2127702-AG-GC c.2941_2942delinsGC p.Ser981Ala Missense 26/42 - 2
16-2127711-G-C c.2950G>C p.Glu984Gln Missense 26/42 - 3
16-2127723-C-T c.2962C>T p.Arg988Cys Missense 26/42 - 2
16-2127724-G-C c.2963G>C p.Arg988Pro Missense 26/42 - 1
16-2129040-C-T c.2974C>T p.Gln992* Nonsense 27/42 - 2
16-2129044-C-T c.2978C>T p.Thr993Met Missense 27/42 - 3
16-2129094-C-T c.3028C>T p.Gln1010* Nonsense 27/42 - 3
16-2129116-AA-A c.3050del p.Asn1017Thrfs*13 Frameshift 27/42 - 1
16-2129118-CT-GC c.3052_3053delinsGC p.Leu1018Ala Missense 27/42 - 1
16-2129142-T-TT c.3076dup p.Cys1026Leufs*142 Frameshift 27/42 - 1
16-2129146-T-C c.3080T>C p.Leu1027Pro Missense 27/42 - 1
16-2129158-C-G c.3092C>G p.Ala1031Gly Missense 27/42 - 1
16-2129160-C-T c.3094C>T p.Arg1032* Nonsense 27/42 - 3
16-2129161-G-C c.3095G>C p.Arg1032Pro Missense 27/42 - 1
16-2129165-C-G c.3099C>G p.Tyr1033* Nonsense 27/42 - 3
16-2129166-G-A c.3100G>A p.Val1034Ile Missense 27/42 - 1
16-2129191-CC-C c.3125del p.Pro1042Argfs*11 Frameshift 27/42 - 1
16-2129192-G-T c.3126G>T p.Pro1042Pro Synonymous 27/42 - 1
16-2129276-G-C c.3132-1G>C - IntronicSNV - 27/41 1
16-2129279-C-T c.3134C>T p.Ser1045Phe Missense 28/42 - 1
16-2129279-CTC-TTTT c.3134_3136delinsTTTT p.Ser1045Phefs*123 Frameshift 28/42 - 1
16-2129287-G-T c.3142G>T p.Gly1048Cys Missense 28/42 - 1
16-2129312-G-C c.3167G>C p.Arg1056Thr Missense 28/42 - 1
16-2129320-A-AA c.3175dup p.Thr1059Asnfs*109 Frameshift 28/42 - 1
16-2129324-G-C c.3179G>C p.Trp1060Ser Missense 28/42 - 1
16-2129324-G-A c.3179G>A p.Trp1060* Nonsense 28/42 - 1
16-2129325-G-A c.3180G>A p.Trp1060* Nonsense 28/42 - 1
16-2129330-GTTGG-G c.3185_3188del p.Val1062Glyfs*7 Frameshift 28/42 - 1
16-2129348-C-T c.3203C>T p.Thr1068Ile Missense 28/42 - 1
16-2129351-T-A c.3206T>A p.Val1069Glu Missense 28/42 - 1
16-2129351-T-C c.3206T>C p.Val1069Ala Missense 28/42 - 1
16-2129353-ACG-TGT c.3208_3210delinsTGT p.Thr1070Cys Missense 28/42 - 1
16-2129369-C-T c.3224C>T p.Thr1075Ile Missense 28/42 - 1
16-2129370-C-A c.3225C>A p.Thr1075Thr Synonymous 28/42 - 1
16-2129370-C-G c.3225C>G p.Thr1075Thr Synonymous 28/42 - 1
16-2129370-C-T c.3225C>T p.Thr1075Thr Synonymous 28/42 - 1
16-2129397-C-G c.3252C>G p.Asp1084Glu Missense 28/42 - 2
16-2129404-G-T c.3259G>T p.Glu1087* Nonsense 28/42 - 1
16-2129422-G-T c.3277G>T p.Glu1093* Nonsense 28/42 - 1
16-2129430-G-A c.3284+1G>A - IntronicSNV - 28/41 1
16-2129539-C-T c.3285-19C>T - IntronicSNV - 28/41 1
16-2129563-AG-A c.3290del p.Ser1097Thrfs*6 Frameshift 29/42 - 1
16-2129583-C-T c.3310C>T p.Gln1104* Nonsense 29/42 - 1
16-2129625-CA-TC c.3352_3353delinsTC p.Gln1118Ser Missense 29/42 - 1
16-2129629-CA-C c.3356del p.Gln1119Argfs*72 Frameshift 29/42 - 1
16-2129637-C-T c.3364C>T p.Arg1122Cys Missense 29/42 - 1
16-2129637-CC-C c.3364del p.Arg1122Valfs*69 Frameshift 29/42 - 1
16-2129643-GGCCCGGGATCGGG-G c.3370_3382del p.Ala1124Serfs*63 Frameshift 29/42 - 1
16-2129644-GCCCGGGATCGG-G c.3371_3381del p.Ala1124Glyfs*40 Frameshift 29/42 - 1
16-2129661-T-G c.3388T>G p.Ser1130Ala Missense 29/42 - 2
16-2129667-T-G c.3394T>G p.Ser1132Ala Missense 29/42 - 1
16-2130180-C-T c.3412C>T p.Arg1138* Nonsense 30/42 - 6
16-2130189-G-A c.3421G>A p.Ala1141Thr Missense 30/42 - 1
16-2130190-C-T c.3422C>T p.Ala1141Val Missense 30/42 - 3
16-2130198-G-A c.3430G>A p.Val1144Met Missense 30/42 - 1
16-2130210-C-T c.3442C>T p.Gln1148* Nonsense 30/42 - 2
16-2130240-C-T c.3472C>T p.Pro1158Ser Missense 30/42 - 1
16-2130245-G-T c.3477G>T p.Arg1159Arg Synonymous 30/42 - 1
16-2130245-G-C c.3477G>C p.Arg1159Arg Synonymous 30/42 - 1
16-2130245-G-A c.3477G>A p.Arg1159Arg Synonymous 30/42 - 1
16-2130243-C-T c.3475C>T p.Arg1159Trp Missense 30/42 - 1
16-2130243-C-A c.3475C>A p.Arg1159Arg Synonymous 30/42 - 1
16-2130253-C-T c.3485C>T p.Pro1162Leu Missense 30/42 - 1
16-2130259-C-T c.3491C>T p.Ala1164Val Missense 30/42 - 1
16-2130266-T-TT c.3498dup p.Glu1167* Nonsense 30/42 - 1
16-2130294-C-CT c.3526_3527insT p.Pro1176Leufs*58 Frameshift 30/42 - 1
16-2130300-C-T c.3532C>T p.Gln1178* Nonsense 30/42 - 2
16-2130306-A-T c.3538A>T p.Lys1180* Nonsense 30/42 - 1
16-2130325-A-G c.3557A>G p.Tyr1186Cys Missense 30/42 - 1
16-2130342-C-T c.3574C>T p.Gln1192* Nonsense 30/42 - 1
16-2130349-G-A c.3581G>A p.Trp1194* Nonsense 30/42 - 1
16-2130350-G-A c.3582G>A p.Trp1194* Nonsense 30/42 - 1
16-2130357-A-T c.3589A>T p.Ile1197Phe Missense 30/42 - 1
16-2130364-T-G c.3596T>G p.Val1199Gly Missense 30/42 - 1
16-2130366-C-T c.3598C>T p.Arg1200Trp Missense 30/42 - 4
16-2130367-G-C c.3599G>C p.Arg1200Pro Missense 30/42 - 5
16-2130373-C-A c.3605C>A p.Pro1202His Missense 30/42 - 1
16-2130375-A-G c.3607A>G p.Thr1203Ala Missense 30/42 - 1
16-2130378-G-C c.3610G>C p.Gly1204Arg Missense 30/42 - 1
16-2130378-G-A c.3610G>A p.Gly1204Arg Missense 30/42 - 1
16-2130379-G-A c.3610+1G>A - IntronicSNV - 30/41 2
16-2130379-G-T c.3610+1G>T - IntronicSNV - 30/41 1
16-2130697-G-A c.3610+319G>A - IntronicSNV - 30/41 1
16-2131562-CTGGCCTCAGGCCAAAGGTGCTGCCGC-C c.3611-34_3611-9del - IntronicDeletion - 30/41 1
16-2131596-G-A c.3611G>A p.Gly1204Glu Missense 31/42 - 1
16-2131609-G-A c.3624G>A p.Trp1208* Nonsense 31/42 - 1
16-2131611-T-C c.3626T>C p.Leu1209Pro Missense 31/42 - 1
16-2131631-C-A c.3646C>A p.Leu1216Ile Missense 31/42 - 1
16-2131667-C-CC c.3682dup p.Leu1228Profs*6 Frameshift 31/42 - 1
16-2131670-C-T c.3685C>T p.Gln1229* Nonsense 31/42 - 3
16-2131673-G-A c.3688G>A p.Glu1230Lys Missense 31/42 - 1
16-2131676-GCTGTCTAACGCCCTCAT-G c.3691_3707del p.Leu1231Glyfs*3 Frameshift 31/42 - 1
16-2131678-TGTCT-T c.3693_3696del p.Ser1232Thrfs*92 Frameshift 31/42 - 1
16-2131697-GGCTG-G c.3712_3715del p.Ala1238Serfs*86 Frameshift 31/42 - 1
16-2131698-C-T c.3713C>T p.Ala1238Val Missense 31/42 - 1
16-2131710-A-AA c.3725dup p.Glu1243Glyfs*79 Frameshift 31/42 - 1
16-2131721-G-A c.3736G>A p.Asp1246Asn Missense 31/42 - 1
16-2131735-C-G c.3750C>G p.Tyr1250* Nonsense 31/42 - 1
16-2131740-C-T c.3755C>T p.Ser1252Leu Missense 31/42 - 1
16-2131745-T-G c.3760T>G p.Ser1254Ala Missense 31/42 - 1
16-2131746-C-T c.3761C>T p.Ser1254Leu Missense 31/42 - 1
16-2131757-AGCCAGCA-A c.3772_3778del p.Ala1258Argfs*65 Frameshift 31/42 - 1
16-2131757-GC-CG c.3772_3773delinsCG p.Ala1258Arg Missense 31/42 - 1
16-2131764-C-T c.3779C>T p.Thr1260Met Missense 31/42 - 1
16-2131766-G-A c.3781G>A p.Ala1261Thr Missense 31/42 - 1
16-2131787-C-T c.3802C>T p.Arg1268Cys Missense 31/42 - 2
16-2131788-G-A c.3803G>A p.Arg1268His Missense 31/42 - 1
16-2131800-G-C c.3814+1G>C - IntronicSNV - 31/41 1
16-2131818-C-CC c.3814+19dup - IntronicInsertion - 31/41 1
16-2132416-G-A c.3815-21G>A - IntronicSNV - 31/41 1
16-2132449-C-T c.3827C>T p.Ser1276Phe Missense 32/42 - 3
16-2132459-C-G c.3837C>G p.Tyr1279* Nonsense 32/42 - 1
16-2132466-A-G c.3844A>G p.Ser1282Gly Missense 32/42 - 1
16-2132466-CAGC-C c.3844_3846del p.Ser1282del InFrameDeletion 32/42 - 1
16-2132468-GCTGCCAAGG-G c.3846_3854del p.Ser1282_Gly1285delinsArg MultiAAMissense 32/42 - 1
16-2132472-CCAAGGAC-C c.3850_3856del p.Gln1284Serfs*39 Frameshift 32/42 - 1
16-2132493-G-A c.3871G>A p.Val1291Ile Missense 32/42 - 1
16-2132511-G-A c.3883+6G>A - IntronicSNV - 32/41 1
16-2133726-C-T c.3914C>T p.Pro1305Leu Missense 33/42 - 2
16-2133755-C-G c.3943C>G p.Pro1315Ala Missense 33/42 - 1
16-2133764-GGAGGACGTTG-G c.3952_3961del p.Glu1318Argfs*4 Frameshift 33/42 - 1
16-2133765-A-G c.3953A>G p.Glu1318Gly Missense 33/42 - 1
16-2133786-G-A c.3974G>A p.Gly1325Asp Missense 33/42 - 2
16-2133798-G-A c.3986G>A p.Arg1329His Missense 33/42 - 3
16-2133801-C-T c.3989C>T p.Thr1330Met Missense 33/42 - 1
16-2133811-C-A c.3999C>A p.Tyr1333* Nonsense 33/42 - 1
16-2133901-C-T c.4005+84C>T - IntronicSNV - 33/41 3
16-2134158-C-T c.4006-71C>T - IntronicSNV - 33/41 1
16-2134230-C-T c.4007C>T p.Ser1336Leu Missense 34/42 - 2
16-2134230-C-G c.4007C>G p.Ser1336Trp Missense 34/42 - 1
16-2134235-T-G c.4012T>G p.Ser1338Ala Missense 34/42 - 2
16-2134236-TCA-T c.4013_4014del p.Ser1338Cysfs*75 Frameshift 34/42 - 1
16-2134270-G-A c.4047G>A p.Ala1349Ala Synonymous 34/42 - 1
16-2134274-G-A c.4051G>A p.Glu1351Lys Missense 34/42 - 2
16-2134274-G-T c.4051G>T p.Glu1351* Nonsense 34/42 - 2
16-2134306-GAGTCG-G c.4083_4087del p.Val1362Leufs*50 Frameshift 34/42 - 1
16-2134313-TCC-GAG c.4090_4092delinsGAG p.Ser1364Glu Missense 34/42 - 1
16-2134313-T-G c.4090T>G p.Ser1364Ala Missense 34/42 - 1
16-2134316-T-G c.4093T>G p.Ser1365Ala Missense 34/42 - 1
16-2134316-TC-GA c.4093_4094inv p.Ser1365Glu Missense 34/42 - 1
16-2134317-C-T c.4094C>T p.Ser1365Leu Missense 34/42 - 1
16-2134320-A-C c.4097A>C p.Glu1366Ala Missense 34/42 - 1
16-2134322-G-A c.4099G>A p.Gly1367Ser Missense 34/42 - 1
16-2134328-C-A c.4105C>A p.Arg1369Arg Synonymous 34/42 - 1
16-2134328-C-T c.4105C>T p.Arg1369Trp Missense 34/42 - 2
16-2134329-G-A c.4106G>A p.Arg1369Gln Missense 34/42 - 1
16-2134352-C-T c.4129C>T p.Gln1377* Nonsense 34/42 - 1
16-2134368-T-TC c.4145_4146insC p.Ser1383Glufs*31 Frameshift 34/42 - 1
16-2134382-T-G c.4159T>G p.Ser1387Ala Missense 34/42 - 1
16-2134397-C-T c.4174C>T p.Gln1392* Nonsense 34/42 - 2
16-2134399-AGA-A c.4176_4177del p.Gln1392Hisfs*21 Frameshift 34/42 - 1
16-2134403-TCT-T c.4180_4181del p.Leu1394Alafs*19 Frameshift 34/42 - 2
16-2134448-C-G c.4225C>G p.Arg1409Gly Missense 34/42 - 1
16-2134458-CCT-C c.4235_4236del p.Pro1412Argfs*3 Frameshift 34/42 - 1
16-2134475-T-G c.4252T>G p.Ser1418Ala Missense 34/42 - 1
16-2134478-C-T c.4255C>T p.Gln1419* Nonsense 34/42 - 1
16-2134492-G-T c.4269G>T p.Leu1423Leu Synonymous 34/42 - 1
16-2134490-C-T c.4267C>T p.Leu1423Leu Synonymous 34/42 - 1
16-2134492-G-A c.4269G>A p.Leu1423Leu Synonymous 34/42 - 1
16-2134492-G-C c.4269G>C p.Leu1423Leu Synonymous 34/42 - 1
16-2134496-G-A c.4273G>A p.Gly1425Arg Missense 34/42 - 1
16-2134496-G-C c.4273G>C p.Gly1425Arg Missense 34/42 - 1
16-2134508-G-T c.4285G>T p.Ala1429Ser Missense 34/42 - 3
16-2134521-C-T c.4298C>T p.Ser1433Leu Missense 34/42 - 2
16-2134536-G-A c.4313G>A p.Arg1438Gln Missense 34/42 - 1
16-2134539-G-A c.4316G>A p.Gly1439Asp Missense 34/42 - 4
16-2134541-C-T c.4318C>T p.Gln1440* Nonsense 34/42 - 2
16-2134559-C-G c.4336C>G p.Pro1446Ala Missense 34/42 - 1
16-2134567-C-A c.4344C>A p.Ser1448Arg Missense 34/42 - 1
16-2134567-C-G c.4344C>G p.Ser1448Arg Missense 34/42 - 1
16-2134565-A-C c.4342A>C p.Ser1448Arg Missense 34/42 - 1
16-2134590-CTCCGGCCCCGAGGTTACAC-C c.4367_4385del p.Leu1456Profs*14 Frameshift 34/42 - 1
16-2134598-C-T c.4375C>T p.Arg1459* Nonsense 34/42 - 9
16-2134607-A-C c.4384A>C p.Thr1462Pro Missense 34/42 - 1
16-2134607-A-G c.4384A>G p.Thr1462Ala Missense 34/42 - 7
16-2134620-C-T c.4397C>T p.Ser1466Leu Missense 34/42 - 1
16-2134638-GG-G c.4415del p.Gly1472Alafs*4 Frameshift 34/42 - 1
16-2134642-G-A c.4419G>A p.Lys1473Lys Synonymous 34/42 - 1
16-2134649-G-C c.4426G>C p.Glu1476Gln Missense 34/42 - 1
16-2134652-A-G c.4429A>G p.Arg1477Gly Missense 34/42 - 1
16-2134665-A-AA c.4442dup p.Ser1482Glufs*42 Frameshift 34/42 - 1
16-2134683-C-G c.4460C>G p.Ser1487Cys Missense 34/42 - 1
16-2134692-A-G c.4469A>G p.Glu1490Gly Missense 34/42 - 1
16-2134693-GA-TT c.4470_4471delinsTT p.Glu1490_Lys1491delinsAsp* MultiAAMissense 34/42 - 1
16-2134713-C-T c.4490C>T p.Pro1497Leu Missense 34/42 - 3
16-2134713-C-G c.4490C>G p.Pro1497Arg Missense 34/42 - 1
16-2134716-G-A c.4493G>A p.Ser1498Asn Missense 34/42 - 1
16-2134717-G-A c.4493+1G>A - IntronicSNV - 34/41 1
16-2134734-G-A c.4493+18G>A - IntronicSNV - 34/41 1
16-2134954-T-TT c.4496dup p.Val1500Argfs*24 Frameshift - - 1
16-2134956-G-A c.4498G>A p.Val1500Met Missense 35/42 - 1
16-2134960-T-C c.4502T>C p.Phe1501Ser Missense 35/42 - 1
16-2134985-TCTT-T c.4527_4529del p.Phe1510del InFrameDeletion 35/42 - 2
16-2134988-TTGGCGACG-T c.4530_4537del p.Phe1510Leufs*11 Frameshift 35/42 - 1
16-2134993-A-C c.4535A>C p.Asp1512Ala Missense 35/42 - 1
16-2134993-GACGAG-G c.4535_4539del p.Asp1512Valfs*10 Frameshift 35/42 - 1
16-2134995-G-T c.4537G>T p.Glu1513* Nonsense 35/42 - 2
16-2134995-G-A c.4537G>A p.Glu1513Lys Missense 35/42 - 1
16-2134999-C-G c.4541C>G p.Ser1514* Nonsense 35/42 - 2
16-2134999-C-A c.4541C>A p.Ser1514* Nonsense 35/42 - 2
16-2135002-AACAA-A c.4544_4547del p.Asn1515Serfs*60 Frameshift 35/42 - 2
16-2135018-TG-T c.4560del p.Asn1522Metfs*54 Frameshift 35/42 - 1
16-2135023-AAT-A c.4565_4566del p.Asn1522Argfs*6 Frameshift 35/42 - 1
16-2135231-T-TT c.4570dup p.Ser1524Phefs*5 SpliceAcceptorInsertion 36/42 - 1
16-2135242-TT-T c.4581del p.Phe1527Leufs*49 Frameshift 36/42 - 1
16-2135243-G-C c.4582G>C p.Glu1528Gln Missense 36/42 - 1
16-2135247-G-A c.4586G>A p.Arg1529Gln Missense 36/42 - 1
16-2135264-CGAC-C c.4603_4605del p.Asp1535del InFrameDeletion 36/42 - 1
16-2135264-G-T c.4603G>T p.Asp1535Tyr Missense 36/42 - 1
16-2135265-A-C c.4604A>C p.Asp1535Ala Missense 36/42 - 1
16-2135281-C-G c.4620C>G p.Tyr1540* Nonsense 36/42 - 2
16-2135281-C-A c.4620C>A p.Tyr1540* Nonsense 36/42 - 2
16-2135300-G-A c.4639G>A p.Val1547Ile Missense 36/42 - 2
16-2135307-A-G c.4646A>G p.Tyr1549Cys Missense 36/42 - 1
16-2135311-TTGGA-T c.4650_4653del p.Gly1551Lysfs*24 Frameshift 36/42 - 1
16-2135321-C-T c.4660C>T p.Gln1554* Nonsense 36/42 - 2
16-2135323-G-T c.4662G>T p.Gln1554His Missense 36/42 - 1
16-2135323-G-C c.4662G>C p.Gln1554His Missense 36/42 - 1
16-2136203-G-A c.4672G>A p.Glu1558Lys Missense 37/42 - 3
16-2136216-T-C c.4685T>C p.Leu1562Pro Missense 37/42 - 1
16-2136231-G-T c.4700G>T p.Gly1567Val Missense 37/42 - 1
16-2136238-C-A c.4707C>A p.Tyr1569* Nonsense 37/42 - 1
16-2136239-A-T c.4708A>T p.Arg1570Trp Missense 37/42 - 1
16-2136240-AGGTACA-A c.4709_4714del p.Arg1570_Tyr1571del InFrameDeletion 37/42 - 1
16-2136243-A-G c.4712A>G p.Tyr1571Cys Missense 37/42 - 1
16-2136244-C-A c.4713C>A p.Tyr1571* Nonsense 37/42 - 1
16-2136244-C-G c.4713C>G p.Tyr1571* Nonsense 37/42 - 1
16-2136261-GG-G c.4730del p.Gly1577Alafs*8 Frameshift 37/42 - 1
16-2136266-GGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGA-G c.4735_4793del p.Gly1579Argfs*4 Frameshift 37/42 - 1
16-2136266-G-A c.4735G>A p.Gly1579Ser Missense 37/42 - 1
16-2136268-C-T c.4737C>T p.Gly1579Gly Synonymous 37/42 - 1
16-2136269-C-T c.4738C>T p.Arg1580Trp Missense 37/42 - 2
16-2136275-CATC-C c.4744_4746del p.Ile1582del InFrameDeletion 37/42 - 1
16-2136293-C-T c.4762C>T p.Gln1588* Nonsense 37/42 - 1
16-2136297-CC-C c.4766del p.Pro1589Argfs*36 Frameshift 37/42 - 1
16-2136298-G-A c.4767G>A p.Pro1589Pro Synonymous 37/42 - 1
16-2136298-G-C c.4767G>C p.Pro1589Pro Synonymous 37/42 - 1
16-2136298-G-T c.4767G>T p.Pro1589Pro Synonymous 37/42 - 1
16-2136314-G-A c.4783G>A p.Gly1595Arg Missense 37/42 - 1
16-2136331-GTG-G c.4800_4801del p.Cys1600Trpfs*2 Frameshift 37/42 - 1
16-2136344-C-T c.4813C>T p.Gln1605* Nonsense 37/42 - 2
16-2136361-G-A c.4830G>A p.Trp1610* Nonsense 37/42 - 5
16-2136377-C-T c.4846C>T p.Gln1616* Nonsense 37/42 - 1
16-2136382-GTACGGCCTGG-G c.4849+2_4849+11del - IntronicDeletion - 37/41 1
16-2136624-T-G c.4850-109T>G - IntronicSNV - 37/41 2
16-2136624-T-C c.4850-109T>C - IntronicSNV - 37/41 2
16-2136732-G-A c.4850-1G>A - IntronicSNV - 37/41 1
16-2136739-T-C c.4856T>C p.Phe1619Ser Missense 38/42 - 1
16-2136741-C-T c.4858C>T p.His1620Tyr Missense 38/42 - 2
16-2136742-A-G c.4859A>G p.His1620Arg Missense 38/42 - 1
16-2136742-A-C c.4859A>C p.His1620Pro Missense 38/42 - 1
16-2136754-T-C c.4871T>C p.Leu1624Pro Missense 38/42 - 3
16-2136788-C-A c.4905C>A p.Cys1635* Nonsense 38/42 - 1
16-2136792-CAA-C c.4909_4910del p.Lys1637Glufs*15 Frameshift 38/42 - 1
16-2136795-GAAG-G c.4912_4914del p.Lys1638del InFrameDeletion 38/42 - 3
16-2136801-C-T c.4918C>T p.His1640Tyr Missense 38/42 - 2
16-2136808-G-A c.4925G>A p.Gly1642Asp Missense 38/42 - 3
16-2136811-A-T c.4928A>T p.Asn1643Ile Missense 38/42 - 1
16-2136811-A-G c.4928A>G p.Asn1643Ser Missense 38/42 - 1
16-2136812-C-G c.4929C>G p.Asn1643Lys Missense 38/42 - 5
16-2136812-C-A c.4929C>A p.Asn1643Lys Missense 38/42 - 5
16-2136812-C-CT c.4929_4930insT p.Asp1644* Nonsense 38/42 - 1
16-2136818-T-TT c.4935dup p.Val1646Cysfs*7 Frameshift 38/42 - 1
16-2136820-T-G c.4937T>G p.Val1646Gly Missense 38/42 - 1
16-2136825-A-T c.4942A>T p.Ile1648Phe Missense 38/42 - 1
16-2136826-T-C c.4943T>C p.Ile1648Thr Missense 38/42 - 1
16-2136832-A-G c.4949A>G p.Tyr1650Cys Missense 38/42 - 1
16-2136835-A-G c.4952A>G p.Asn1651Ser Missense 38/42 - 5
16-2136841-C-T c.4958C>T p.Ser1653Phe Missense 38/42 - 1
16-2136849-G-A c.4966G>A p.Asp1656Asn Missense 38/42 - 1
16-2136849-G-T c.4966G>T p.Asp1656Tyr Missense 38/42 - 1
16-2137867-C-T c.4993C>T p.Gln1665* Nonsense 39/42 - 1
16-2137870-GTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCT-G c.4996_5054del p.Phe1666Alafs*20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 39/42 - 1
16-2137892-T-C c.5018T>C p.Val1673Ala Missense 39/42 - 1
16-2137898-C-T c.5024C>T p.Pro1675Leu Missense 39/42 - 3
16-2137904-GA-G c.5030del p.Asp1677Alafs*149 Frameshift 39/42 - 1
16-2137906-T-TT c.5032dup p.Tyr1678Leufs*28 Frameshift 39/42 - 1
16-2137917-C-A c.5043C>A p.Asn1681Lys Missense 39/42 - 1
16-2137917-C-G c.5043C>G p.Asn1681Lys Missense 39/42 - 1
16-2137925-TCCCTGCAGTGCAGGAAAG-T c.5051_5068del p.Ser1684_Asp1690delinsTyr SpliceDonorDeletion 39/42 - 1
16-2137933-T-TT c.5059dup p.Cys1687Leufs*19 Frameshift 39/42 - 1
16-2138028-G-A c.5069-21G>A - IntronicSNV - 39/41 1
16-2138065-G-GT c.5085_5086insT p.Asp1696* Nonsense 40/42 - 1
16-2138074-C-G c.5094C>G p.Ser1698Arg Missense 40/42 - 1
16-2138074-C-A c.5094C>A p.Ser1698Arg Missense 40/42 - 1
16-2138072-A-C c.5092A>C p.Ser1698Arg Missense 40/42 - 1
16-2138086-C-CCACA c.5106_5107insCACA p.Val1703Hisfs*4 Frameshift 40/42 - 1
16-2138088-T-TT c.5108dup p.Ser1704Valfs*2 Frameshift 40/42 - 1
16-2138090-GT-G c.5110del p.Ser1704Leufs*122 Frameshift 40/42 - 1
16-2138090-T-A c.5110T>A p.Ser1704Thr Missense 40/42 - 1
16-2138106-C-T c.5126C>T p.Pro1709Leu Missense 40/42 - 2
16-2138107-CC-C c.5127del p.Phe1710Serfs*116 Frameshift 40/42 - 1
16-2138111-G-A c.5131G>A p.Val1711Met Missense 40/42 - 3
16-2138115-C-T c.5135C>T p.Ala1712Val Missense 40/42 - 1
16-2138118-G-A c.5138G>A p.Arg1713His Missense 40/42 - 3
16-2138126-GGCC-G c.5146_5148del p.Ala1716del InFrameDeletion 40/42 - 1
16-2138130-T-C c.5150T>C p.Leu1717Pro Missense 40/42 - 1
16-2138135-G-C c.5155G>C p.Ala1719Pro Missense 40/42 - 1
16-2138143-G-C c.5160+3G>C - IntronicSNV - 40/41 1
16-2138144-A-G c.5160+4A>G - IntronicSNV - 40/41 1
16-2138145-G-T c.5160+5G>T - IntronicSNV - 40/41 2
16-2138219-C-T c.5161-9C>T - IntronicSNV - 40/41 2
16-2138235-C-A c.5168C>A p.Ser1723* Nonsense 41/42 - 1
16-2138236-A-AA c.5169dup p.Gln1724Thrfs*5 Frameshift 41/42 - 1
16-2138242-TGC-T c.5175_5176del p.His1726Serfs*2 Frameshift 41/42 - 1
16-2138243-CA-AG c.5176_5177delinsAG p.His1726Ser Missense 41/42 - 1
16-2138266-C-CC c.5199dup p.Asp1734Argfs*41 Frameshift 41/42 - 1
16-2138267-G-A c.5200G>A p.Asp1734Asn Missense 41/42 - 1
16-2138269-T-C c.5202T>C p.Asp1734Asp Synonymous 41/42 - 5
16-2138269-T-A c.5202T>A p.Asp1734Glu Missense 41/42 - 3
16-2138269-T-G c.5202T>G p.Asp1734Glu Missense 41/42 - 3
16-2138279-CT-C c.5212del p.Ser1738Profs*88 Frameshift 41/42 - 1
16-2138286-G-A c.5219G>A p.Trp1740* Nonsense 41/42 - 1
16-2138287-G-A c.5220G>A p.Trp1740* Nonsense 41/42 - 1
16-2138294-C-T c.5227C>T p.Arg1743Trp Missense 41/42 - 6
16-2138294-C-G c.5227C>G p.Arg1743Gly Missense 41/42 - 1
16-2138295-G-T c.5228G>T p.Arg1743Leu Missense 41/42 - 1
16-2138295-G-A c.5228G>A p.Arg1743Gln Missense 41/42 - 10
16-2138295-G-C c.5228G>C p.Arg1743Pro Missense 41/42 - 1
16-2138305-C-CC c.5238dup p.Ile1747Hisfs*28 Frameshift 41/42 - 1
16-2138305-ACATCAAGCGGCTCCGCCA-A c.5238_5255del p.His1746_Arg1751del InFrameDeletion 41/42 - 9
16-2138305-C-T c.5238C>T p.His1746His Synonymous 41/42 - 1
16-2138318-C-T c.5251C>T p.Arg1751Cys Missense 41/42 - 2
16-2138319-CGCC-C c.5252_5254del p.Arg1751del InFrameDeletion 41/42 - 5
16-2138319-CGCCAGCGGGTAGGGAATATGGGGCTCC-C c.5252_5259+19del - SpliceDonorDeletion 41/42 41/41 2
16-2138413-CCCAGACTTACTGCCCAAGCCGCCTC-C c.5260-34_5260-10del - IntronicDeletion - 41/41 1
16-2138500-G-C c.5313G>C p.Pro1771Pro Synonymous 42/42 - 1
16-2138507-A-G c.5320A>G p.Ser1774Gly Missense 42/42 - 1
16-2138508-G-C c.5321G>C p.Ser1774Thr Missense 42/42 - 1
16-2138543-C-T c.5356C>T p.Pro1786Ser Missense 42/42 - 1
16-2138546-G-A c.5359G>A p.Gly1787Ser Missense 42/42 - 1
16-2138565-G-A c.5378G>A p.Arg1793Gln Missense 42/42 - 1
16-2138570-C-T c.5383C>T p.Arg1795Cys Missense 42/42 - 2
16-2138579-T-G c.5392T>G p.Ser1798Ala Missense 42/42 - 4
16-2138579-T-C c.5392T>C p.Ser1798Pro Missense 42/42 - 1
16-2138582-CTCG-C c.5395_5397del p.Ser1799del InFrameDeletion 42/42 - 1
16-2138584-G-A c.5397G>A p.Ser1799Ser Synonymous 42/42 - 5
16-2138584-G-C c.5397G>C p.Ser1799Ser Synonymous 42/42 - 5
16-2138584-G-T c.5397G>T p.Ser1799Ser Synonymous 42/42 - 5
16-2138605-T-G c.5418T>G p.Phe1806Leu Missense 42/42 - 1