TLR4 toll like receptor 4

Canonical transcript: NM_138554

372 unique variant annotations were identified in 751 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-120466772-G-A c.22G>A p.Ala8Thr Missense 1/3 - 1
9-120466778-AC-TG c.28_29delinsTG p.Thr10Cys Missense 1/3 - 1
9-120466787-CC-AA c.37_38delinsAA p.Pro13Lys Missense 1/3 - 50
9-120466790-GC-TG c.40_41delinsTG p.Ala14Cys Missense 1/3 - 1
9-120466792-C-A c.42C>A p.Ala14Ala Synonymous 1/3 - 1
9-120466792-C-G c.42C>G p.Ala14Ala Synonymous 1/3 - 1
9-120466792-C-T c.42C>T p.Ala14Ala Synonymous 1/3 - 1
9-120466793-AT-GC c.43_44delinsGC p.Met15Ala Missense 1/3 - 1
9-120466796-GC-TG c.46_47delinsTG p.Ala16Cys Missense 1/3 - 1
9-120466796-G-T c.46G>T p.Ala16Ser Missense 1/3 - 1
9-120466797-C-T c.47C>T p.Ala16Val Missense 1/3 - 2
9-120466799-TT-CG c.49_50delinsCG p.Phe17Arg Missense 1/3 - 1
9-120466802-CT-GC c.52_53delinsGC p.Leu18Ala Missense 1/3 - 1
9-120466805-TC-AA c.55_56delinsAA p.Ser19Asn Missense 1/3 - 1
9-120466805-TC-GA c.55_56inv p.Ser19Asp Missense 1/3 - 1
9-120466805-T-G c.55T>G p.Ser19Ala Missense 1/3 - 1
9-120466806-C-G c.56C>G p.Ser19Cys Missense 1/3 - 2
9-120466823-AG-GC c.73_74delinsGC p.Ser25Ala Missense 1/3 - 1
9-120466824-G-C c.74G>C p.Ser25Thr Missense 1/3 - 1
9-120466826-TG-GC c.76_77delinsGC p.Trp26Ala Missense 1/3 - 1
9-120466829-G-C c.79G>C p.Glu27Gln Missense 1/3 - 1
9-120466832-CC-TG c.82_83delinsTG p.Pro28Cys Missense 1/3 - 1
9-120466834-C-A c.84C>A p.Pro28Pro Synonymous 1/3 - 1
9-120466834-C-G c.84C>G p.Pro28Pro Synonymous 1/3 - 1
9-120466834-C-T c.84C>T p.Pro28Pro Synonymous 1/3 - 1
9-120466835-T-C c.85T>C p.Cys29Arg Missense 1/3 - 1
9-120466835-TG-CT c.85_86delinsCT p.Cys29Leu Missense 1/3 - 2
9-120466835-TG-GC c.85_86delinsGC p.Cys29Ala Missense 1/3 - 1
9-120466836-G-T c.86G>T p.Cys29Phe Missense 1/3 - 1
9-120466838-G-A c.88G>A p.Val30Met Missense 1/3 - 1
9-120468649-T-C c.93+1806T>C - IntronicSNV - 1/2 3
9-120469426-C-T c.94-1415C>T - IntronicSNV - 1/2 2
9-120469550-T-G c.94-1291T>G - IntronicSNV - 1/2 5
9-120469664-A-G c.94-1177A>G - IntronicSNV - 1/2 1
9-120469832-A-G c.94-1009A>G - IntronicSNV - 1/2 6
9-120470054-A-G c.94-787A>G - IntronicSNV - 1/2 88
9-120470148-A-G c.94-693A>G - IntronicSNV - 1/2 4
9-120470358-G-A c.94-483G>A - IntronicSNV - 1/2 1
9-120470372-A-C c.94-469A>C - IntronicSNV - 1/2 6
9-120470498-A-C c.94-343A>C - IntronicSNV - 1/2 5
9-120470845-T-C c.98T>C p.Val33Ala Missense 2/3 - 1
9-120470848-C-T c.101C>T p.Pro34Leu Missense 2/3 - 1
9-120470850-AA-GC c.103_104delinsGC p.Asn35Ala Missense 2/3 - 2
9-120470854-TT-AG c.107_108delinsAG p.Ile36Lys Missense 2/3 - 1
9-120470864-A-G c.117A>G p.Gln39Gln Synonymous 2/3 - 1
9-120470865-T-A c.118T>A p.Cys40Ser Missense 2/3 - 1
9-120470865-TG-CT c.118_119delinsCT p.Cys40Leu Missense 2/3 - 2
9-120470865-TG-GC c.118_119delinsGC p.Cys40Ala Missense 2/3 - 2
9-120470866-G-C c.119G>C p.Cys40Ser Missense 2/3 - 1
9-120470868-AT-GA c.121_122delinsGA p.Met41Glu Missense 2/3 - 1
9-120470882-C-G c.135C>G p.Phe45Leu Missense 2/3 - 1
9-120470884-A-G c.137A>G p.Tyr46Cys Missense 2/3 - 3
9-120470886-AA-GC c.139_140delinsGC p.Lys47Ala Missense 2/3 - 2
9-120470891-C-G c.144C>G p.Ile48Met Missense 2/3 - 2
9-120470899-A-G c.152A>G p.Asn51Ser Missense 2/3 - 1
9-120470904-CCC-TAA c.157_159delinsTAA p.Pro53* Nonsense 2/3 - 1
9-120470910-TCA-AAC c.163_165delinsAAC p.Ser55Asn Missense 2/3 - 1
9-120470921-C-A c.174C>A p.Asn58Lys Missense 2/3 - 2
9-120470921-C-G c.174C>G p.Asn58Lys Missense 2/3 - 2
9-120470931-AGC-GAG c.184_186delinsGAG p.Ser62Glu Missense 2/3 - 1
9-120470934-T-C c.187T>C p.Phe63Leu Missense 2/3 - 1
9-120470934-TTT-ATG c.187_189delinsATG p.Phe63Met Missense 2/3 - 1
9-120470936-T-A c.189T>A p.Phe63Leu Missense 2/3 - 1
9-120470936-T-G c.189T>G p.Phe63Leu Missense 2/3 - 1
9-120470935-TT-GG c.188_189delinsGG p.Phe63Trp Missense 2/3 - 2
9-120470940-CCC-ATG c.193_195delinsATG p.Pro65Met Missense 2/3 - 1
9-120470941-C-T c.194C>T p.Pro65Leu Missense 2/3 - 1
9-120470942-C-A c.195C>A p.Pro65Pro Synonymous 2/3 - 2
9-120470942-C-G c.195C>G p.Pro65Pro Synonymous 2/3 - 2
9-120470942-C-T c.195C>T p.Pro65Pro Synonymous 2/3 - 2
9-120470955-G-T c.208G>T p.Gly70Cys Missense 2/3 - 1
9-120470958-AGC-GAG c.211_213delinsGAG p.Ser71Glu Missense 2/3 - 1
9-120470964-AG-CT c.217_218inv p.Ser73Leu Missense 2/3 - 1
9-120470964-AG-GC c.217_218delinsGC p.Ser73Ala Missense 2/3 - 2
9-120470964-A-C c.217A>C p.Ser73Arg Missense 2/3 - 1
9-120470966-C-A c.219C>A p.Ser73Arg Missense 2/3 - 1
9-120470966-C-G c.219C>G p.Ser73Arg Missense 2/3 - 1
9-120470985-C-A c.238C>A p.Leu80Met Missense 2/3 - 1
9-120470986-T-C c.239T>C p.Leu80Pro Missense 2/3 - 1
9-120470991-GTG-AAC c.244_246delinsAAC p.Val82Asn Missense 2/3 - 1
9-120470991-GTG-ATC c.244_246delinsATC p.Val82Ile Missense 2/3 - 1
9-120470991-GTG-TTT c.244_246delinsTTT p.Val82Phe Missense 2/3 - 1
9-120470992-T-A c.245T>A p.Val82Glu Missense 2/3 - 1
9-120470992-T-C c.245T>C p.Val82Ala Missense 2/3 - 1
9-120470998-A-C c.251A>C p.Asp84Ala Missense 2/3 - 2
9-120471058-G-A c.260+51G>A - IntronicSNV - 2/2 1
9-120471553-C-A c.260+546C>A - IntronicSNV - 2/2 9
9-120472211-A-C c.260+1204A>C - IntronicSNV - 2/2 16
9-120472211-A-G c.260+1204A>G - IntronicSNV - 2/2 16
9-120472211-A-T c.260+1204A>T - IntronicSNV - 2/2 16
9-120472730-T-A c.260+1723T>A - IntronicSNV - 2/2 25
9-120472730-T-C c.260+1723T>C - IntronicSNV - 2/2 25
9-120472764-C-T c.260+1757C>T - IntronicSNV - 2/2 29
9-120473180-C-T c.261-1487C>T - IntronicSNV - 2/2 1
9-120473338-T-C c.261-1329T>C - IntronicSNV - 2/2 6
9-120473834-A-G c.261-833A>G - IntronicSNV - 2/2 16
9-120473867-T-G c.261-800T>G - IntronicSNV - 2/2 3
9-120474199-T-G c.261-468T>G - IntronicSNV - 2/2 47
9-120474282-G-A c.261-385G>A - IntronicSNV - 2/2 20
9-120474282-G-T c.261-385G>T - IntronicSNV - 2/2 20
9-120474339-A-G c.261-328A>G - IntronicSNV - 2/2 2
9-120474668-T-C c.262T>C p.Cys88Arg Missense 3/3 - 2
9-120474673-A-G c.267A>G p.Glu89Glu Synonymous 3/3 - 1
9-120474675-T-A c.269T>A p.Ile90Asn Missense 3/3 - 2
9-120474680-ACA-TAT c.274_276delinsTAT p.Thr92Tyr Missense 3/3 - 1
9-120474680-AC-GG c.274_275delinsGG p.Thr92Gly Missense 3/3 - 1
9-120474680-A-G c.274A>G p.Thr92Ala Missense 3/3 - 1
9-120474687-A-C c.281A>C p.Glu94Ala Missense 3/3 - 1
9-120474691-T-C c.285T>C p.Asp95Asp Synonymous 3/3 - 2
9-120474696-C-A c.290C>A p.Ala97Glu Missense 3/3 - 1
9-120474696-C-T c.290C>T p.Ala97Val Missense 3/3 - 1
9-120474699-A-G c.293A>G p.Tyr98Cys Missense 3/3 - 1
9-120474699-A-T c.293A>T p.Tyr98Phe Missense 3/3 - 1
9-120474704-A-G c.298A>G p.Ser100Gly Missense 3/3 - 5
9-120474704-AG-CC c.298_299delinsCC p.Ser100Pro Missense 3/3 - 15
9-120474704-AG-GC c.298_299delinsGC p.Ser100Ala Missense 3/3 - 38
9-120474704-A-T c.298A>T p.Ser100Cys Missense 3/3 - 2
9-120474706-C-T c.300C>T p.Ser100Ser Synonymous 3/3 - 11
9-120474712-C-T c.306C>T p.Ser102Ser Synonymous 3/3 - 1
9-120474721-T-A c.315T>A p.Ser105Ser Synonymous 3/3 - 3
9-120474721-T-C c.315T>C p.Ser105Ser Synonymous 3/3 - 12
9-120474721-T-G c.315T>G p.Ser105Ser Synonymous 3/3 - 3
9-120474723-CC-TG c.317_318delinsTG p.Thr106Met Missense 3/3 - 3
9-120474759-C-G c.353C>G p.Ala118Gly Missense 3/3 - 1
9-120474779-CT-AA c.373_374delinsAA p.Leu125Lys Missense 3/3 - 4
9-120474782-TC-AT c.376_377delinsAT p.Ser126Ile Missense 3/3 - 1
9-120474785-AG-GC c.379_380delinsGC p.Ser127Ala Missense 3/3 - 1
9-120474800-GTG-TTT c.394_396delinsTTT p.Val132Phe Missense 3/3 - 1
9-120474806-G-A c.400G>A p.Val134Met Missense 3/3 - 1
9-120474806-G-C c.400G>C p.Val134Leu Missense 3/3 - 2
9-120474806-G-T c.400G>T p.Val134Leu Missense 3/3 - 2
9-120474812-A-T c.406A>T p.Thr136Ser Missense 3/3 - 1
9-120474815-AA-GC c.409_410delinsGC p.Asn137Ala Missense 3/3 - 1
9-120474841-C-A c.435C>A p.Pro145Pro Synonymous 3/3 - 1
9-120474841-C-G c.435C>G p.Pro145Pro Synonymous 3/3 - 1
9-120474841-C-T c.435C>T p.Pro145Pro Synonymous 3/3 - 1
9-120474848-CA-GG c.442_443delinsGG p.His148Gly Missense 3/3 - 1
9-120474854-A-G c.448A>G p.Lys150Glu Missense 3/3 - 2
9-120474857-A-G c.451A>G p.Thr151Ala Missense 3/3 - 1
9-120474873-A-T c.467A>T p.Asn156Ile Missense 3/3 - 1
9-120474881-C-T c.475C>T p.His159Tyr Missense 3/3 - 1
9-120474883-C-A c.477C>A p.His159Gln Missense 3/3 - 1
9-120474883-C-G c.477C>G p.His159Gln Missense 3/3 - 1
9-120474893-CA-GC c.487_488delinsGC p.Gln163Ala Missense 3/3 - 1
9-120474895-A-C c.489A>C p.Gln163His Missense 3/3 - 1
9-120474895-A-T c.489A>T p.Gln163His Missense 3/3 - 1
9-120474896-T-G c.490T>G p.Ser164Ala Missense 3/3 - 1
9-120474905-TT-GC c.499_500delinsGC p.Leu167Ala Missense 3/3 - 1
9-120474915-A-T c.509A>T p.Tyr170Phe Missense 3/3 - 1
9-120474923-AA-GC c.517_518delinsGC p.Asn173Ala Missense 3/3 - 2
9-120474929-A-G c.523A>G p.Thr175Ala Missense 3/3 - 2
9-120474935-CTA-TTT c.529_531delinsTTT p.Leu177Phe Missense 3/3 - 2
9-120474947-G-T c.541G>T p.Asp181Tyr Missense 3/3 - 1
9-120474949-C-A c.543C>A p.Asp181Glu Missense 3/3 - 1
9-120474949-C-G c.543C>G p.Asp181Glu Missense 3/3 - 1
9-120474953-TC-AT c.547_548delinsAT p.Ser183Ile Missense 3/3 - 1
9-120474953-T-G c.547T>G p.Ser183Ala Missense 3/3 - 1
9-120474957-GC-AG c.551_552delinsAG p.Ser184Lys Missense 3/3 - 1
9-120474984-C-A c.578C>A p.Thr193Lys Missense 3/3 - 1
9-120474992-CG-GC c.586_587delinsGC p.Arg196Ala Missense 3/3 - 5
9-120474992-CGG-TGT c.586_588delinsTGT p.Arg196Cys Missense 3/3 - 10
9-120474995-G-A c.589G>A p.Val197Ile Missense 3/3 - 2
9-120475010-C-A c.604C>A p.Pro202Thr Missense 3/3 - 1
9-120475010-C-G c.604C>G p.Pro202Ala Missense 3/3 - 2
9-120475019-AA-GC c.613_614delinsGC p.Asn205Ala Missense 3/3 - 1
9-120475083-T-G c.677T>G p.Ile226Ser Missense 3/3 - 1
9-120475100-A-G c.694A>G p.Thr232Ala Missense 3/3 - 1
9-120475121-AG-GA c.715_716delinsGA p.Ser239Asp Missense 3/3 - 2
9-120475127-AA-GC c.721_722delinsGC p.Asn241Ala Missense 3/3 - 1
9-120475139-A-G c.733A>G p.Thr245Ala Missense 3/3 - 1
9-120475150-A-C c.744A>C p.Gln248His Missense 3/3 - 1
9-120475150-A-T c.744A>T p.Gln248His Missense 3/3 - 1
9-120475181-GTT-ATG c.775_777delinsATG p.Val259Met Missense 3/3 - 1
9-120475196-AG-GC c.790_791delinsGC p.Arg264Ala Missense 3/3 - 1
9-120475202-G-A c.796G>A p.Glu266Lys Missense 3/3 - 3
9-120475214-G-C c.808G>C p.Glu270Gln Missense 3/3 - 1
9-120475226-A-C c.820A>C p.Lys274Gln Missense 3/3 - 1
9-120475241-G-C c.835G>C p.Gly279Arg Missense 3/3 - 1
9-120475248-G-A c.842G>A p.Cys281Tyr Missense 3/3 - 4
9-120475256-A-G c.850A>G p.Thr284Ala Missense 3/3 - 1
9-120475272-G-A c.866G>A p.Arg289Gln Missense 3/3 - 2
9-120475272-G-T c.866G>T p.Arg289Leu Missense 3/3 - 1
9-120475293-A-T c.887A>T p.Tyr296Phe Missense 3/3 - 1
9-120475301-GA-AT c.895_896delinsAT p.Asp299Ile Missense 3/3 - 2
9-120475301-GAT-CAA c.895_897delinsCAA p.Asp299Gln Missense 3/3 - 2
9-120475301-GA-TG c.895_896delinsTG p.Asp299Cys Missense 3/3 - 1
9-120475302-A-C c.896A>C p.Asp299Ala Missense 3/3 - 1
9-120475302-A-G c.896A>G p.Asp299Gly Missense 3/3 - 866
9-120475302-A-T c.896A>T p.Asp299Val Missense 3/3 - 190
9-120475303-T-C c.897T>C p.Asp299Asp Synonymous 3/3 - 8
9-120475324-T-G c.918T>G p.Cys306Trp Missense 3/3 - 1
9-120475328-A-G c.922A>G p.Thr308Ala Missense 3/3 - 1
9-120475343-TT-GC c.937_938delinsGC p.Phe313Ala Missense 3/3 - 1
9-120475370-AG-GC c.964_965delinsGC p.Arg322Ala Missense 3/3 - 3
9-120475384-T-C c.978T>C p.Phe326Phe Synonymous 3/3 - 1
9-120475390-T-A c.984T>A p.Tyr328* Nonsense 3/3 - 1
9-120475390-T-G c.984T>G p.Tyr328* Nonsense 3/3 - 1
9-120475427-AA-GC c.1021_1022delinsGC p.Lys341Ala Missense 3/3 - 1
9-120475451-A-G c.1045A>G p.Lys349Glu Missense 3/3 - 1
9-120475460-T-G c.1054T>G p.Ser352Ala Missense 3/3 - 1
9-120475463-C-T c.1057C>T p.Leu353Phe Missense 3/3 - 1
9-120475463-CT-GC c.1057_1058delinsGC p.Leu353Ala Missense 3/3 - 1
9-120475468-A-G c.1062A>G p.Lys354Lys Synonymous 3/3 - 2
9-120475482-C-T c.1076C>T p.Thr359Ile Missense 3/3 - 1
9-120475484-T-G c.1078T>G p.Ser360Ala Missense 3/3 - 2
9-120475490-AA-GC c.1084_1085delinsGC p.Lys362Ala Missense 3/3 - 1
9-120475556-G-C c.1150G>C p.Gly384Arg Missense 3/3 - 2
9-120475562-AG-CC c.1156_1157delinsCC p.Ser386Pro Missense 3/3 - 1
9-120475562-AG-GC c.1156_1157delinsGC p.Ser386Ala Missense 3/3 - 1
9-120475562-AGT-GAG c.1156_1158delinsGAG p.Ser386Glu Missense 3/3 - 1
9-120475568-A-G c.1162A>G p.Lys388Glu Missense 3/3 - 1
9-120475568-A-T c.1162A>T p.Lys388* Nonsense 3/3 - 2
9-120475573-T-A c.1167T>A p.Gly389Gly Synonymous 3/3 - 1
9-120475573-T-C c.1167T>C p.Gly389Gly Synonymous 3/3 - 1
9-120475573-T-G c.1167T>G p.Gly389Gly Synonymous 3/3 - 1
9-120475574-T-A c.1168T>A p.Cys390Ser Missense 3/3 - 1
9-120475575-G-C c.1169G>C p.Cys390Ser Missense 3/3 - 1
9-120475601-ACC-TAA c.1195_1197delinsTAA p.Thr399* Nonsense 3/3 - 1
9-120475601-AC-GG c.1195_1196delinsGG p.Thr399Gly Missense 3/3 - 2
9-120475602-C-G c.1196C>G p.Thr399Ser Missense 3/3 - 1
9-120475602-C-T c.1196C>T p.Thr399Ile Missense 3/3 - 541
9-120475603-C-A c.1197C>A p.Thr399Thr Synonymous 3/3 - 7
9-120475603-C-G c.1197C>G p.Thr399Thr Synonymous 3/3 - 7
9-120475603-C-T c.1197C>T p.Thr399Thr Synonymous 3/3 - 7
9-120475605-G-A c.1199G>A p.Ser400Asn Missense 3/3 - 1
9-120475607-CT-GC c.1201_1202delinsGC p.Leu401Ala Missense 3/3 - 1
9-120475649-A-G c.1243A>G p.Ser415Gly Missense 3/3 - 1
9-120475661-TT-CC c.1255_1256delinsCC p.Leu419Pro Missense 3/3 - 1
9-120475664-G-C c.1258G>C p.Gly420Arg Missense 3/3 - 1
9-120475703-AA-GC c.1297_1298delinsGC p.Asn433Ala Missense 3/3 - 1
9-120475709-A-G c.1303A>G p.Lys435Glu Missense 3/3 - 1
9-120475721-G-T c.1315G>T p.Glu439* Nonsense 3/3 - 1
9-120475722-A-G c.1316A>G p.Glu439Gly Missense 3/3 - 1
9-120475724-TT-GC c.1318_1319delinsGC p.Phe440Ala Missense 3/3 - 2
9-120475725-TT-AA c.1319_1320inv p.Phe440* Nonsense 3/3 - 1
9-120475725-TT-GG c.1319_1320delinsGG p.Phe440Trp Missense 3/3 - 2
9-120475727-TCA-GAC c.1321_1323delinsGAC p.Ser441Asp Missense 3/3 - 1
9-120475728-CA-GT c.1322_1323delinsGT p.Ser441Cys Missense 3/3 - 1
9-120475735-C-T c.1329C>T p.Phe443Phe Synonymous 3/3 - 1
9-120475736-CT-GC c.1330_1331delinsGC p.Leu444Ala Missense 3/3 - 1
9-120475736-CT-TA c.1330_1331delinsTA p.Leu444* Nonsense 3/3 - 1
9-120475757-TA-GC c.1351_1352delinsGC p.Tyr451Ala Missense 3/3 - 1
9-120475772-CA-GC c.1366_1367delinsGC p.His456Ala Missense 3/3 - 2
9-120475778-CAC-TAA c.1372_1374delinsTAA p.His458* Nonsense 3/3 - 1
9-120475784-AGA-CAT c.1378_1380delinsCAT p.Arg460His Missense 3/3 - 1
9-120475793-TT-GC c.1387_1388delinsGC p.Phe463Ala Missense 3/3 - 2
9-120475794-TC-AA c.1388_1389delinsAA p.Phe463* Nonsense 3/3 - 1
9-120475816-G-T c.1410G>T p.Leu470Phe Missense 3/3 - 1
9-120475826-G-A c.1420G>A p.Glu474Lys Missense 3/3 - 6
9-120475826-G-T c.1420G>T p.Glu474* Nonsense 3/3 - 4
9-120475835-AA-GC c.1429_1430delinsGC p.Lys477Ala Missense 3/3 - 1
9-120475844-GG-TT c.1438_1439delinsTT p.Gly480Phe Missense 3/3 - 1
9-120475895-AAC-CAA c.1489_1491delinsCAA p.Asn497Gln Missense 3/3 - 1
9-120475898-T-G c.1492T>G p.Leu498Val Missense 3/3 - 1
9-120475916-TCT-GAG c.1510_1512delinsGAG p.Ser504Glu Missense 3/3 - 1
9-120475916-T-G c.1510T>G p.Ser504Ala Missense 3/3 - 1
9-120475936-G-C c.1530G>C p.Gln510His Missense 3/3 - 4
9-120475936-G-T c.1530G>T p.Gln510His Missense 3/3 - 4
9-120475970-CT-AG c.1564_1565inv p.Leu522Ser Missense 3/3 - 1
9-120475982-AAT-CAA c.1576_1578delinsCAA p.Asn526Gln Missense 3/3 - 1
9-120476006-T-G c.1600T>G p.Ser534Ala Missense 3/3 - 1
9-120476060-AG-CC c.1654_1655delinsCC p.Ser552Pro Missense 3/3 - 1
9-120476062-T-C c.1656T>C p.Ser552Ser Synonymous 3/3 - 1
9-120476084-AA-GC c.1678_1679delinsGC p.Lys560Ala Missense 3/3 - 1
9-120476115-G-T c.1709G>T p.Ser570Ile Missense 3/3 - 1
9-120476129-AAT-CAA c.1723_1725delinsCAA p.Asn575Gln Missense 3/3 - 1
9-120476139-A-T c.1733A>T p.Gln578Leu Missense 3/3 - 1
9-120476185-G-A c.1779G>A p.Trp593* Nonsense 3/3 - 1
9-120476189-AA-GC c.1783_1784delinsGC p.Lys595Ala Missense 3/3 - 1
9-120476191-G-C c.1785G>C p.Lys595Asn Missense 3/3 - 1
9-120476191-G-T c.1785G>T p.Lys595Asn Missense 3/3 - 1
9-120476198-AG-GC c.1792_1793delinsGC p.Arg598Ala Missense 3/3 - 1
9-120476215-A-C c.1809A>C p.Glu603Asp Missense 3/3 - 1
9-120476215-A-T c.1809A>T p.Glu603Asp Missense 3/3 - 1
9-120476247-A-G c.1841A>G p.Asp614Gly Missense 3/3 - 1
9-120476281-C-T c.1875C>T p.Ile625Ile Synonymous 3/3 - 1
9-120476285-TG-GC c.1879_1880delinsGC p.Cys627Ala Missense 3/3 - 1
9-120476357-G-T c.1951G>T p.Val651Phe Missense 3/3 - 1
9-120476365-G-A c.1959G>A p.Lys653Lys Synonymous 3/3 - 5
9-120476396-TG-GC c.1990_1991delinsGC p.Cys664Ala Missense 3/3 - 1
9-120476408-G-T c.2002G>T p.Gly668Cys Missense 3/3 - 3
9-120476410-T-A c.2004T>A p.Gly668Gly Synonymous 3/3 - 1
9-120476410-T-C c.2004T>C p.Gly668Gly Synonymous 3/3 - 1
9-120476410-T-G c.2004T>G p.Gly668Gly Synonymous 3/3 - 1
9-120476426-TA-GC c.2020_2021delinsGC p.Tyr674Ala Missense 3/3 - 6
9-120476433-C-G c.2027C>G p.Ala676Gly Missense 3/3 - 1
9-120476442-T-C c.2036T>C p.Ile679Thr Missense 3/3 - 1
9-120476444-TA-GC c.2038_2039delinsGC p.Tyr680Ala Missense 3/3 - 5
9-120476453-CA-GC c.2047_2048delinsGC p.Gln683Ala Missense 3/3 - 1
9-120476483-GTA-AAC c.2077_2079delinsAAC p.Val693Asn Missense 3/3 - 3
9-120476486-AA-GC c.2080_2081delinsGC p.Lys694Ala Missense 3/3 - 1
9-120476487-A-G c.2081A>G p.Lys694Arg Missense 3/3 - 3
9-120476498-G-A c.2092G>A p.Glu698Lys Missense 3/3 - 1
9-120476514-T-G c.2108T>G p.Phe703Cys Missense 3/3 - 1
9-120476516-CA-GC c.2110_2111delinsGC p.Gln704Ala Missense 3/3 - 1
9-120476522-T-A c.2116T>A p.Cys706Ser Missense 3/3 - 1
9-120476522-TG-GC c.2116_2117delinsGC p.Cys706Ala Missense 3/3 - 1
9-120476523-G-C c.2117G>C p.Cys706Ser Missense 3/3 - 1
9-120476546-C-G c.2140C>G p.Pro714Ala Missense 3/3 - 2
9-120476547-C-A c.2141C>A p.Pro714His Missense 3/3 - 16
9-120476558-AT-GC c.2152_2153delinsGC p.Ile718Ala Missense 3/3 - 2
9-120476576-CA-GC c.2170_2171delinsGC p.His724Ala Missense 3/3 - 1
9-120476580-A-C c.2174A>C p.Glu725Ala Missense 3/3 - 1
9-120476582-G-T c.2176G>T p.Gly726Cys Missense 3/3 - 1
9-120476588-C-G c.2182C>G p.His728Asp Missense 3/3 - 1
9-120476591-AA-GC c.2185_2186delinsGC p.Lys729Ala Missense 3/3 - 1
9-120476592-A-G c.2186A>G p.Lys729Arg Missense 3/3 - 1
9-120476622-A-T c.2216A>T p.Gln739Leu Missense 3/3 - 1
9-120476633-CA-GC c.2227_2228delinsGC p.Gln743Ala Missense 3/3 - 1
9-120476644-G-C c.2238G>C p.Trp746Cys Missense 3/3 - 1
9-120476644-G-T c.2238G>T p.Trp746Cys Missense 3/3 - 1
9-120476645-T-A c.2239T>A p.Cys747Ser Missense 3/3 - 4
9-120476645-TG-AC c.2239_2240delinsAC p.Cys747Thr Missense 3/3 - 1
9-120476645-TG-GC c.2239_2240delinsGC p.Cys747Ala Missense 3/3 - 2
9-120476645-TG-GT c.2239_2240delinsGT p.Cys747Val Missense 3/3 - 1
9-120476646-G-C c.2240G>C p.Cys747Ser Missense 3/3 - 4
9-120476663-AT-GC c.2257_2258delinsGC p.Ile753Ala Missense 3/3 - 1
9-120476669-CA-GC c.2263_2264delinsGC p.Gln755Ala Missense 3/3 - 2
9-120476675-TG-GC c.2269_2270delinsGC p.Trp757Ala Missense 3/3 - 2
9-120476678-CA-GC c.2272_2273delinsGC p.Gln758Ala Missense 3/3 - 1
9-120476687-AG-CC c.2281_2282delinsCC p.Ser761Pro Missense 3/3 - 1
9-120476693-CG-GC c.2287_2288delinsGC p.Arg763Ala Missense 3/3 - 1
9-120476694-G-A c.2288G>A p.Arg763His Missense 3/3 - 4
9-120476694-GT-AA c.2288_2289delinsAA p.Arg763Gln Missense 3/3 - 1
9-120476723-AA-GC c.2317_2318delinsGC p.Lys773Ala Missense 3/3 - 1
9-120476724-A-G c.2318A>G p.Lys773Arg Missense 3/3 - 1
9-120476732-AAG-GAC c.2326_2328delinsGAC p.Lys776Asp Missense 3/3 - 1
9-120476733-A-G c.2327A>G p.Lys776Arg Missense 3/3 - 1
9-120476766-G-A c.2360G>A p.Arg787His Missense 3/3 - 2
9-120476777-AG-CA c.2371_2372delinsCA p.Arg791Gln Missense 3/3 - 1
9-120476780-AA-GC c.2374_2375delinsGC p.Asn792Ala Missense 3/3 - 1
9-120476786-TA-GC c.2380_2381delinsGC p.Tyr794Ala Missense 3/3 - 1
9-120476787-A-T c.2381A>T p.Tyr794Phe Missense 3/3 - 1
9-120476792-G-A c.2386G>A p.Glu796Lys Missense 3/3 - 1
9-120476793-A-C c.2387A>C p.Glu796Ala Missense 3/3 - 1
9-120476798-G-A c.2392G>A p.Glu798Lys Missense 3/3 - 1
9-120476799-A-C c.2393A>C p.Glu798Ala Missense 3/3 - 1
9-120476814-G-C c.2408G>C p.Gly803Ala Missense 3/3 - 1
9-120476816-C-T c.2410C>T p.Arg804Trp Missense 3/3 - 1
9-120476825-TT-GC c.2419_2420delinsGC p.Phe807Ala Missense 3/3 - 1
9-120476834-CGA-AGC c.2428_2430delinsAGC p.Arg810Ser Missense 3/3 - 1
9-120476844-A-G c.2438A>G p.Lys813Arg Missense 3/3 - 1
9-120476849-CT-GC c.2443_2444delinsGC p.Leu815Ala Missense 3/3 - 3
9-120476897-TG-GC c.2491_2492delinsGC p.Cys831Ala Missense 3/3 - 1
9-120476906-C-A c.2500C>A p.Gln834Lys Missense 3/3 - 1
9-120477674-A-G c.*748A>G - 3-UTRSNV 3/3 - 2
9-120477933-G-C c.*1007G>C - 3-UTRSNV 3/3 - 2
9-120478032-C-T c.*1106C>T - 3-UTRSNV 3/3 - 14
9-120478042-C-A c.*1116C>A - 3-UTRSNV 3/3 - 1
9-120478131-G-C c.*1205G>C - 3-UTRSNV 3/3 - 100
9-120478936-G-A c.*2010G>A - 3-UTRSNV 3/3 - 44
9-120478936-G-C c.*2010G>C - 3-UTRSNV 3/3 - 44
9-120478936-G-T c.*2010G>T - 3-UTRSNV 3/3 - 44
9-120479337-T-C c.*2411T>C - 3-UTRSNV 3/3 - 17
9-120479734-T-C c.*2808T>C - 3-UTRSNV 3/3 - 2
9-120480010-G-A c.*3084G>A - IntergenicSNV 3/3 - 10
9-120480115-T-C c.*3189T>C - IntergenicSNV 3/3 - 17
9-120480210-C-A c.*3284C>A - IntergenicSNV 3/3 - 19
9-120480812-T-C c.*3886T>C - IntergenicSNV 3/3 - 34
9-120481397-T-A c.*4471T>A - IntergenicSNV 3/3 - 6
9-120481856-G-T c.*4930G>T - IntergenicSNV 3/3 - 10
9-120482940-T-C c.*6014T>C - IntergenicSNV 3/3 - 4
9-120483103-A-G c.*6177A>G - IntergenicSNV 3/3 - 2
9-120483639-C-T c.*6713C>T - IntergenicSNV 3/3 - 1
9-120483663-A-G c.*6737A>G - IntergenicSNV 3/3 - 15
9-120483776-G-A c.*6850G>A - IntergenicSNV 3/3 - 2
9-120483776-G-T c.*6850G>T - IntergenicSNV 3/3 - 2
9-120484009-G-A c.*7083G>A - IntergenicSNV 3/3 - 8
9-120484159-T-C c.*7233T>C - IntergenicSNV 3/3 - 1
9-120485215-A-C c.*8289A>C - IntergenicSNV 3/3 - 1
9-120485308-T-C c.*8382T>C - IntergenicSNV 3/3 - 5
9-120485795-A-G c.*8869A>G - IntergenicSNV 3/3 - 17