KRAS KRAS proto-oncogene, GTPase

Canonical transcript: NM_033360

559 unique variant annotations were identified in 1591 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-25358650-A-T c.*4200T>A - 3_prime_UTR_variant 6/6 - 4
12-25358828-T-G c.*4022A>C - 3_prime_UTR_variant 6/6 - 8
12-25358943-T-C c.*3907A>G - 3_prime_UTR_variant 6/6 - 2
12-25358969-T-G c.*3881A>C - 3_prime_UTR_variant 6/6 - 1
12-25359328-A-T c.*3522T>A - 3_prime_UTR_variant 6/6 - 2
12-25359352-G-A c.*3498C>T - 3_prime_UTR_variant 6/6 - 4
12-25359577-C-T c.*3273G>A - 3_prime_UTR_variant 6/6 - 1
12-25359898-A-G c.*2952T>C - 3_prime_UTR_variant 6/6 - 1
12-25359898-A-T c.*2952T>A - 3_prime_UTR_variant 6/6 - 1
12-25360138-T-C c.*2712A>G - 3_prime_UTR_variant 6/6 - 1
12-25360224-A-C c.*2626T>G - 3_prime_UTR_variant 6/6 - 83
12-25361074-G-A c.*1776C>T - 3_prime_UTR_variant 6/6 - 1
12-25361091-T-A c.*1759A>T - 3_prime_UTR_variant 6/6 - 2
12-25361091-T-C c.*1759A>G - 3_prime_UTR_variant 6/6 - 2
12-25361142-A-G c.*1708T>C - 3_prime_UTR_variant 6/6 - 6
12-25361646-T-C c.*1204A>G - 3_prime_UTR_variant 6/6 - 5
12-25361905-A-G c.*945T>C - 3_prime_UTR_variant 6/6 - 1
12-25362552-A-C c.*298T>G - 3_prime_UTR_variant 6/6 - 38
12-25362777-A-G c.*73T>C - 3_prime_UTR_variant 6/6 - 9
12-25362777-A-T c.*73T>A - 3_prime_UTR_variant 6/6 - 9
12-25362805-C-T c.*45G>A - 3_prime_UTR_variant 6/6 - 1
12-25362809-T-C c.*41A>G - 3_prime_UTR_variant 6/6 - 1
12-25362818-C-T c.*32G>A - 3_prime_UTR_variant 6/6 - 1
12-25362828-G-C c.*22C>G - 3_prime_UTR_variant 6/6 - 1
12-25362830-A-C c.*20T>G - 3_prime_UTR_variant 6/6 - 1
12-25362830-A-T c.*20T>A - 3_prime_UTR_variant 6/6 - 1
12-25362841-A-C c.*9T>G - 3_prime_UTR_variant 6/6 - 1
12-25362842-C-A c.*8G>T - 3_prime_UTR_variant 6/6 - 1
12-25362854-C-T c.*5-9G>A - intron_variant - 5/5 2
12-25363943-T-C c.*4432A>G - IntronicSNV 6/6 - 1
12-25365112-C-G c.*5-2267G>C - intron_variant - 5/5 1
12-25365223-A-G c.*5-2378T>C - intron_variant - 5/5 2
12-25365366-T-A c.*3009A>T - IntronicSNV 6/6 - 5
12-25365366-T-C c.*3009A>G - IntronicSNV 6/6 - 5
12-25366805-G-A c.*4+1566C>T - IntronicSNV - 5/5 2
12-25367281-C-A c.*1094G>T - IntronicSNV 6/6 - 1
12-25367651-T-C c.*724A>G - IntronicSNV 6/6 - 1
12-25367669-G-A c.*4+702C>T - IntronicSNV - 5/5 1
12-25367742-A-G c.*633T>C - IntronicSNV 6/6 - 10
12-25367990-G-A c.*385C>T - IntronicSNV 6/6 - 2
12-25367990-G-C c.*385C>G - IntronicSNV 6/6 - 2
12-25368351-T-C c.*24A>G - IntronicSNV 6/6 - 1
12-25368357-G-C c.*18C>G - IntronicSNV 6/6 - 1
12-25368380-T-G c.565A>C p.Met189Leu Missense 5/6 - 2
12-25368383-T-C c.562A>G p.Ile188Val Missense 5/6 - 1
12-25368385-A-G c.560T>C p.Ile187Thr Missense 5/6 - 1
12-25368386-T-C c.559A>G p.Ile187Val Missense 5/6 - 2
12-25368388-C-G c.557G>C p.Cys186Ser Missense 5/6 - 5
12-25368389-A-T c.556T>A p.Cys186Ser Missense 5/6 - 5
12-25368391-T-C c.554A>G p.Lys185Arg Missense 5/6 - 1
12-25368395-T-C c.550A>G p.Lys184Glu Missense 5/6 - 1
12-25368395-T-TT c.555dup p.Cys186Metfs*16 Frameshift 5/6 - 1
12-25368397-A-T c.548T>A p.Ile183Asn Missense 5/6 - 1
12-25368398-T-C c.547A>G p.Ile183Val Missense 5/6 - 1
12-25368399-TT-GC c.545_546delinsGC p.Lys182Ser Missense 5/6 - 1
12-25368400-T-C c.545A>G p.Lys182Arg Missense 5/6 - 2
12-25368400-T-G c.545A>C p.Lys182Thr Missense 5/6 - 1
12-25368400-TT-GC c.544_545delinsGC p.Lys182Ala Missense 5/6 - 2
12-25368401-T-C c.544A>G p.Lys182Glu Missense 5/6 - 2
12-25368405-A-T c.540T>A p.Cys180* Nonsense 5/6 - 1
12-25368406-CA-GC c.538_539delinsGC p.Cys180Ala Missense 5/6 - 1
12-25368406-C-G c.539G>C p.Cys180Ser Missense 5/6 - 6
12-25368407-A-T c.538T>A p.Cys180Ser Missense 5/6 - 6
12-25368409-C-G c.536G>C p.Gly179Ala Missense 5/6 - 3
12-25368410-C-T c.535G>A p.Gly179Ser Missense 5/6 - 2
12-25368412-G-A c.533C>T p.Pro178Leu Missense 5/6 - 1
12-25368413-G-A c.532C>T p.Pro178Ser Missense 5/6 - 1
12-25368413-GGAG-G c.532_534del p.Pro178del InFrameDeletion 5/6 - 1
12-25368419-T-G c.526A>C p.Lys176Gln Missense 5/6 - 1
12-25368422-C-T c.523G>A p.Glu175Lys Missense 5/6 - 1
12-25368425-C-T c.520G>A p.Glu174Lys Missense 5/6 - 1
12-25368430-C-T c.515G>A p.Ser172Asn Missense 5/6 - 1
12-25368431-T-A c.514A>T p.Ser172Cys Missense 5/6 - 1
12-25368432-G-C c.513C>G p.Ile171Met Missense 5/6 - 3
12-25368433-A-G c.512T>C p.Ile171Thr Missense 5/6 - 1
12-25368437-T-C c.508A>G p.Lys170Glu Missense 5/6 - 1
12-25368438-T-A c.507A>T p.Lys169Asn Missense 5/6 - 1
12-25368438-T-G c.507A>C p.Lys169Asn Missense 5/6 - 1
12-25368444-TCT-CAT c.500_501delinsTG p.Arg167Met Missense 5/6 - 22
12-25368449-A-G c.496T>C p.Tyr166His Missense 5/6 - 1
12-25368449-A-T c.496T>A p.Tyr166Asn Missense 5/6 - 1
12-25368451-T-C c.494A>G p.Gln165Arg Missense 5/6 - 1
12-25368452-G-A c.493C>T p.Gln165* Nonsense 5/6 - 1
12-25368454-C-T c.491G>A p.Arg164Gln Missense 5/6 - 4
12-25368455-G-C c.490C>G p.Arg164Gly Missense 5/6 - 1
12-25368458-T-C c.487A>G p.Ile163Val Missense 5/6 - 1
12-25368462-CC-TC c.483delinsA p.Arg161Arg Missense 5/6 - 1
12-25368462-C-T c.483G>A p.Arg161Arg Synonymous 5/6 - 2
12-25368463-CT-GC c.481_482delinsGC p.Arg161Ala Missense 5/6 - 1
12-25368465-CAC-ATC c.479_480delinsAT p.Val160Asp Missense 5/6 - 1
12-25368466-A-G c.479T>C p.Val160Ala Missense 5/6 - 1
12-25368467-C-T c.478G>A p.Val160Met Missense 5/6 - 1
12-25368472-G-A c.473C>T p.Thr158Ile Missense 5/6 - 1
12-25368473-T-G c.472A>C p.Thr158Pro Missense 5/6 - 1
12-25368475-TA-GC c.469_470delinsGC p.Tyr157Ala Missense 5/6 - 2
12-25368475-T-C c.470A>G p.Tyr157Cys Missense 5/6 - 1
12-25368475-T-G c.470A>C p.Tyr157Ser Missense 5/6 - 1
12-25368478-A-T c.467T>A p.Phe156Tyr Missense 5/6 - 1
12-25368479-A-C c.466T>G p.Phe156Val Missense 5/6 - 1
12-25368479-A-G c.466T>C p.Phe156Leu Missense 5/6 - 15
12-25368479-A-T c.466T>A p.Phe156Ile Missense 5/6 - 7
12-25368481-G-C c.464C>G p.Ala155Gly Missense 5/6 - 1
12-25368483-ATC-CAA c.460_462delinsTTG p.Asp154Leu Missense 5/6 - 3
12-25368483-CATC-C c.461_463del p.Asp154del InFrameDeletion 5/6 - 1
12-25368484-T-C c.461A>G p.Asp154Gly Missense 5/6 - 1
12-25368487-T-A c.458A>T p.Glu153Val Missense 5/6 - 5
12-25368487-T-C c.458A>G p.Glu153Gly Missense 5/6 - 1
12-25368487-T-G c.458A>C p.Glu153Ala Missense 5/6 - 1
12-25368489-CAC-TTT c.454_456delinsAAA p.Val152Lys Missense 5/6 - 1
12-25368489-CCAC-C c.455_457del p.Val152del InFrameDeletion 5/6 - 1
12-25368490-A-C c.455T>G p.Val152Gly Missense 5/6 - 7
12-25369617-A-G c.451-1123T>C - IntronicSNV - 4/5 1
12-25371462-C-T c.451-2968G>A - IntronicSNV - 4/5 1
12-25374054-A-T c.450+4494T>A - IntronicSNV - 4/5 1
12-25375799-C-A c.450+2749G>T - IntronicSNV - 4/5 3
12-25375799-C-T c.450+2749G>A - IntronicSNV - 4/5 3
12-25376329-A-G c.450+2219T>C - IntronicSNV - 4/5 1
12-25378549-T-C c.449A>G p.Gln150Arg Missense 4/6 - 1
12-25378550-G-A c.448C>T p.Gln150* Nonsense 4/6 - 1
12-25378552-C-A c.446G>T p.Arg149Ile Missense 4/6 - 1
12-25378553-T-C c.445A>G p.Arg149Gly Missense 4/6 - 1
12-25378554-T-C c.444A>G p.Thr148Thr Synonymous 4/6 - 1
12-25378555-GT-GA c.442delinsT p.Thr148Ser Missense 4/6 - 1
12-25378556-T-C c.442A>G p.Thr148Ala Missense 4/6 - 3
12-25378557-C-A c.441G>T p.Lys147Asn Missense 4/6 - 1
12-25378557-C-G c.441G>C p.Lys147Asn Missense 4/6 - 1
12-25378557-C-T c.441G>A p.Lys147Lys Synonymous 4/6 - 1
12-25378558-T-C c.440A>G p.Lys147Arg Missense 4/6 - 3
12-25378559-T-C c.439A>G p.Lys147Glu Missense 4/6 - 6
12-25378559-T-G c.439A>C p.Lys147Gln Missense 4/6 - 1
12-25378560-T-C c.438A>G p.Ala146Ala Synonymous 4/6 - 2
12-25378560-TG-AC c.437_438delinsGT p.Ala146Gly Missense 4/6 - 1
12-25378561-G-A c.437C>T p.Ala146Val Missense 4/6 - 94
12-25378561-G-C c.437C>G p.Ala146Gly Missense 4/6 - 5
12-25378561-GC-TA c.436_437delinsTA p.Ala146* Nonsense 4/6 - 4
12-25378561-G-T c.437C>A p.Ala146Glu Missense 4/6 - 4
12-25378562-C-A c.436G>T p.Ala146Ser Missense 4/6 - 7
12-25378562-C-G c.436G>C p.Ala146Pro Missense 4/6 - 50
12-25378562-C-T c.436G>A p.Ala146Thr Missense 4/6 - 231
12-25378565-A-C c.433T>G p.Ser145Ala Missense 4/6 - 2
12-25378566-T-G c.432A>C p.Thr144Thr Synonymous 4/6 - 1
12-25378567-G-A c.431C>T p.Thr144Ile Missense 4/6 - 1
12-25378568-T-A c.430A>T p.Thr144Ser Missense 4/6 - 1
12-25378569-T-C c.429A>G p.Glu143Glu Synonymous 4/6 - 1
12-25378571-C-T c.427G>A p.Glu143Lys Missense 4/6 - 1
12-25378573-A-G c.425T>C p.Ile142Thr Missense 4/6 - 2
12-25378575-A-G c.423T>C p.Phe141Phe Synonymous 4/6 - 1
12-25378575-A-T c.423T>A p.Phe141Leu Missense 4/6 - 3
12-25378578-A-T c.420T>A p.Pro140Pro Synonymous 4/6 - 1
12-25378579-G-T c.419C>A p.Pro140His Missense 4/6 - 2
12-25378580-G-A c.418C>T p.Pro140Ser Missense 4/6 - 1
12-25378582-A-T c.416T>A p.Ile139Asn Missense 4/6 - 1
12-25378583-T-A c.415A>T p.Ile139Phe Missense 4/6 - 1
12-25378584-T-C c.414A>G p.Gly138Gly Synonymous 4/6 - 2
12-25378585-C-G c.413G>C p.Gly138Ala Missense 4/6 - 1
12-25378585-C-T c.413G>A p.Gly138Glu Missense 4/6 - 1
12-25378586-C-G c.412G>C p.Gly138Arg Missense 4/6 - 1
12-25378586-C-T c.412G>A p.Gly138Arg Missense 4/6 - 1
12-25378588-T-C c.410A>G p.Tyr137Cys Missense 4/6 - 1
12-25378589-A-G c.409T>C p.Tyr137His Missense 4/6 - 1
12-25378591-C-T c.407G>A p.Ser136Asn Missense 4/6 - 1
12-25378593-T-C c.405A>G p.Arg135Arg Synonymous 4/6 - 1
12-25378594-C-A c.404G>T p.Arg135Ile Missense 4/6 - 1
12-25378594-C-T c.404G>A p.Arg135Lys Missense 4/6 - 2
12-25378594-CT-GC c.403_404delinsGC p.Arg135Ala Missense 4/6 - 1
12-25378597-G-A c.401C>T p.Ala134Val Missense 4/6 - 1
12-25378597-G-C c.401C>G p.Ala134Gly Missense 4/6 - 1
12-25378598-C-T c.400G>A p.Ala134Thr Missense 4/6 - 1
12-25378602-G-C c.396C>G p.Asp132Glu Missense 4/6 - 1
12-25378603-TC-AT c.394_395delinsAT p.Asp132Ile Missense 4/6 - 1
12-25378603-TC-TG c.394delinsC p.Asp132His Missense 4/6 - 1
12-25378604-C-T c.394G>A p.Asp132Asn Missense 4/6 - 2
12-25378605-C-A c.393G>T p.Gln131His Missense 4/6 - 1
12-25378605-C-G c.393G>C p.Gln131His Missense 4/6 - 1
12-25378605-C-T c.393G>A p.Gln131Gln Synonymous 4/6 - 1
12-25378609-G-A c.389C>T p.Ala130Val Missense 4/6 - 3
12-25378610-C-A c.388G>T p.Ala130Ser Missense 4/6 - 1
12-25378610-C-G c.388G>C p.Ala130Pro Missense 4/6 - 1
12-25378610-C-T c.388G>A p.Ala130Thr Missense 4/6 - 1
12-25378615-T-C c.383A>G p.Lys128Arg Missense 4/6 - 3
12-25378617-T-C c.381A>G p.Thr127Thr Synonymous 4/6 - 1
12-25378618-G-C c.380C>G p.Thr127Arg Missense 4/6 - 1
12-25378620-G-C c.378C>G p.Asp126Glu Missense 4/6 - 2
12-25378620-G-T c.378C>A p.Asp126Glu Missense 4/6 - 2
12-25378622-C-G c.376G>C p.Asp126His Missense 4/6 - 1
12-25378622-C-T c.376G>A p.Asp126Asn Missense 4/6 - 1
12-25378624-A-G c.374T>C p.Val125Ala Missense 4/6 - 1
12-25378628-T-A c.370A>T p.Thr124Ser Missense 4/6 - 1
12-25378628-T-C c.370A>G p.Thr124Ala Missense 4/6 - 1
12-25378629-TCT-TGG c.367_368delinsCC p.Arg123Pro Missense 4/6 - 2
12-25378634-A-C c.364T>G p.Ser122Ala Missense 4/6 - 2
12-25378636-G-T c.362C>A p.Pro121His Missense 4/6 - 6
12-25378637-G-A c.361C>T p.Pro121Ser Missense 4/6 - 1
12-25378637-G-C c.361C>G p.Pro121Ala Missense 4/6 - 1
12-25378639-A-G c.359T>C p.Leu120Ser Missense 4/6 - 1
12-25378641-A-G c.357T>C p.Asp119Asp Synonymous 4/6 - 1
12-25378642-T-G c.356A>C p.Asp119Ala Missense 4/6 - 1
12-25378643-C-T c.355G>A p.Asp119Asn Missense 4/6 - 4
12-25378645-CA-AC c.352_353delinsGT p.Cys118Val Missense 4/6 - 1
12-25378645-C-T c.353G>A p.Cys118Tyr Missense 4/6 - 1
12-25378645-C-G c.353G>C p.Cys118Ser Missense 4/6 - 16
12-25378646-A-T c.352T>A p.Cys118Ser Missense 4/6 - 16
12-25378647-T-A c.351A>T p.Lys117Asn Missense 4/6 - 84
12-25378647-T-C c.351A>G p.Lys117Lys Synonymous 4/6 - 1
12-25378647-T-G c.351A>C p.Lys117Asn Missense 4/6 - 79
12-25378647-TTT-GAC c.349_351delinsGTC p.Lys117Val Missense 4/6 - 3
12-25378648-T-C c.350A>G p.Lys117Arg Missense 4/6 - 9
12-25378648-T-G c.350A>C p.Lys117Thr Missense 4/6 - 1
12-25378648-TT-GC c.349_350delinsGC p.Lys117Ala Missense 4/6 - 1
12-25378649-T-A c.349A>T p.Lys117* Nonsense 4/6 - 2
12-25378649-T-C c.349A>G p.Lys117Glu Missense 4/6 - 4
12-25378651-T-C c.347A>G p.Asn116Ser Missense 4/6 - 2
12-25378651-T-G c.347A>C p.Asn116Thr Missense 4/6 - 1
12-25378651-TT-GC c.346_347delinsGC p.Asn116Ala Missense 4/6 - 1
12-25378652-T-G c.346A>C p.Asn116His Missense 4/6 - 4
12-25378653-T-C c.345A>G p.Gly115Gly Synonymous 4/6 - 1
12-25378654-C-T c.344G>A p.Gly115Glu Missense 4/6 - 1
12-25378655-C-A c.343G>T p.Gly115* Nonsense 4/6 - 1
12-25378658-C-A c.340G>T p.Val114Leu Missense 4/6 - 1
12-25378658-C-G c.340G>C p.Val114Leu Missense 4/6 - 1
12-25378664-C-T c.334G>A p.Val112Ile Missense 4/6 - 1
12-25378668-A-C c.330T>G p.Pro110Pro Synonymous 4/6 - 1
12-25378668-A-G c.330T>C p.Pro110Pro Synonymous 4/6 - 1
12-25378668-AGG-TAA c.328_330delinsTTA p.Pro110Leu Nonsense 4/6 - 5
12-25378668-A-T c.330T>A p.Pro110Pro Synonymous 4/6 - 1
12-25378669-G-T c.329C>A p.Pro110His Missense 4/6 - 1
12-25378670-G-A c.328C>T p.Pro110Ser Missense 4/6 - 4
12-25378670-G-C c.328C>G p.Pro110Ala Missense 4/6 - 25
12-25378671-TAC-TGT c.325_326delinsAC p.Val109Thr Missense 4/6 - 1
12-25378671-T-C c.327A>G p.Val109Val Synonymous 4/6 - 1
12-25378672-A-C c.326T>G p.Val109Gly Missense 4/6 - 1
12-25378677-T-A c.321A>T p.Glu107Asp Missense 4/6 - 1
12-25378677-T-G c.321A>C p.Glu107Asp Missense 4/6 - 1
12-25378679-C-T c.319G>A p.Glu107Lys Missense 4/6 - 1
12-25378686-C-A c.312G>T p.Lys104Asn Missense 4/6 - 1
12-25378686-C-G c.312G>C p.Lys104Asn Missense 4/6 - 1
12-25378687-T-C c.311A>G p.Lys104Arg Missense 4/6 - 1
12-25378687-TT-GC c.310_311delinsGC p.Lys104Ala Missense 4/6 - 1
12-25378688-T-C c.310A>G p.Lys104Glu Missense 4/6 - 1
12-25378688-T-G c.310A>C p.Lys104Gln Missense 4/6 - 2
12-25378689-A-T c.309T>A p.Val103Val Synonymous 4/6 - 1
12-25378690-AC-TG c.307_308delinsCA p.Val103His Missense 4/6 - 1
12-25378691-C-T c.307G>A p.Val103Ile Missense 4/6 - 1
12-25378693-C-G c.305G>C p.Arg102Thr Missense 4/6 - 1
12-25378702-T-A c.296A>T p.Gln99Leu Missense 4/6 - 1
12-25378702-T-C c.296A>G p.Gln99Arg Missense 4/6 - 1
12-25378702-TG-GC c.295_296delinsGC p.Gln99Ala Missense 4/6 - 1
12-25380168-C-T c.290G>A p.Arg97Lys Missense 3/6 - 2
12-25380173-A-C c.285T>G p.His95Gln Missense 3/6 - 1
12-25380173-A-T c.285T>A p.His95Gln Missense 3/6 - 1
12-25380173-ATG-AAG c.284delinsT p.His95Leu Missense 3/6 - 1
12-25380174-T-A c.284A>T p.His95Leu Missense 3/6 - 1
12-25380174-T-C c.284A>G p.His95Arg Missense 3/6 - 1
12-25380175-G-T c.283C>A p.His95Asn Missense 3/6 - 1
12-25380184-C-G c.274G>C p.Asp92His Missense 3/6 - 2
12-25380186-T-C c.272A>G p.Glu91Gly Missense 3/6 - 1
12-25380187-C-T c.271G>A p.Glu91Lys Missense 3/6 - 1
12-25380193-A-G c.265T>C p.Ser89Pro Missense 3/6 - 1
12-25380194-T-G c.264A>C p.Lys88Asn Missense 3/6 - 1
12-25380196-T-C c.262A>G p.Lys88Glu Missense 3/6 - 1
12-25380202-T-G c.256A>C p.Asn86His Missense 3/6 - 1
12-25380204-T-C c.254A>G p.Asn85Ser Missense 3/6 - 1
12-25380205-T-G c.253A>C p.Asn85His Missense 3/6 - 1
12-25380214-A-C c.244T>G p.Phe82Val Missense 3/6 - 1
12-25380219-CA-CT c.238delinsA p.Cys80Ser Missense 3/6 - 3
12-25380222-A-G c.236T>C p.Leu79Pro Missense 3/6 - 1
12-25380228-C-G c.230G>C p.Gly77Ala Missense 3/6 - 1
12-25380229-C-A c.229G>T p.Gly77Cys Missense 3/6 - 1
12-25380230-C-A c.228G>T p.Glu76Asp Missense 3/6 - 1
12-25380230-C-G c.228G>C p.Glu76Asp Missense 3/6 - 1
12-25380231-T-C c.227A>G p.Glu76Gly Missense 3/6 - 1
12-25380232-C-T c.226G>A p.Glu76Lys Missense 3/6 - 2
12-25380234-C-G c.224G>C p.Gly75Ala Missense 3/6 - 1
12-25380235-C-T c.223G>A p.Gly75Arg Missense 3/6 - 1
12-25380238-T-C c.220A>G p.Thr74Ala Missense 3/6 - 1
12-25380238-T-G c.220A>C p.Thr74Pro Missense 3/6 - 2
12-25380239-C-T c.219G>A p.Arg73Arg Synonymous 3/6 - 1
12-25380240-C-T c.218G>A p.Arg73Lys Missense 3/6 - 1
12-25380242-CAT-TGT c.215_216delinsCA p.Met72Thr Missense 3/6 - 1
12-25380242-C-T c.216G>A p.Met72Ile Missense 3/6 - 1
12-25380244-T-A c.214A>T p.Met72Leu Missense 3/6 - 1
12-25380244-T-C c.214A>G p.Met72Val Missense 3/6 - 2
12-25380247-A-C c.211T>G p.Tyr71Asp Missense 3/6 - 2
12-25380247-A-G c.211T>C p.Tyr71His Missense 3/6 - 3
12-25380248-C-T c.210G>A p.Gln70Gln Synonymous 3/6 - 1
12-25380249-T-G c.209A>C p.Gln70Pro Missense 3/6 - 1
12-25380252-TC-TG c.205delinsC p.Asp69His Missense 3/6 - 2
12-25380254-CCT-CAT c.203delinsT p.Arg68Met Missense 3/6 - 1
12-25380254-CCTCATTGC-AAGTACTGTACAGTC c.197_204delinsACTGTACAGTACTT p.Ala66_Arg68delinsAspCysThrValLeu MultiAAMissense 3/6 - 1
12-25380254-CCT-TGT c.203_204delinsCA p.Arg68Thr Missense 3/6 - 1
12-25380254-C-G c.204G>C p.Arg68Ser Missense 3/6 - 4
12-25380254-C-T c.204G>A p.Arg68Arg Synonymous 3/6 - 1
12-25380256-T-G c.202A>C p.Arg68Arg Synonymous 3/6 - 1
12-25380256-CTCATTGC-C c.197_203del p.Ala66Glyfs*5 Frameshift 3/6 - 1
12-25380257-CAT-TGT c.200_201delinsCA p.Met67Thr Missense 3/6 - 1
12-25380257-C-T c.201G>A p.Met67Ile Missense 3/6 - 1
12-25380259-T-A c.199A>T p.Met67Leu Missense 3/6 - 1
12-25380259-T-G c.199A>C p.Met67Leu Missense 3/6 - 1
12-25380260-T-A c.198A>T p.Ala66Ala Synonymous 3/6 - 2
12-25380260-T-C c.198A>G p.Ala66Ala Synonymous 3/6 - 2
12-25380260-T-G c.198A>C p.Ala66Ala Synonymous 3/6 - 2
12-25380260-TGC-TTT c.196_197delinsAA p.Ala66Lys Missense 3/6 - 1
12-25380261-G-C c.197C>G p.Ala66Gly Missense 3/6 - 1
12-25380261-G-T c.197C>A p.Ala66Glu Missense 3/6 - 1
12-25380262-C-T c.196G>A p.Ala66Thr Missense 3/6 - 1
12-25380264-C-A c.194G>T p.Ser65Ile Missense 3/6 - 1
12-25380264-C-T c.194G>A p.Ser65Asn Missense 3/6 - 1
12-25380267-T-A c.191A>T p.Tyr64Phe Missense 3/6 - 1
12-25380267-TA-GC c.190_191delinsGC p.Tyr64Ala Missense 3/6 - 3
12-25380267-TA-GG c.190_191delinsCC p.Tyr64Pro Missense 3/6 - 1
12-25380268-A-C c.190T>G p.Tyr64Asp Missense 3/6 - 4
12-25380268-A-G c.190T>C p.Tyr64His Missense 3/6 - 4
12-25380268-A-T c.190T>A p.Tyr64Asn Missense 3/6 - 1
12-25380269-C-A c.189G>T p.Glu63Asp Missense 3/6 - 1
12-25380269-C-G c.189G>C p.Glu63Asp Missense 3/6 - 1
12-25380269-CTC-CAT c.187_188delinsAT p.Glu63Met Missense 3/6 - 1
12-25380270-T-C c.188A>G p.Glu63Gly Missense 3/6 - 2
12-25380270-T-G c.188A>C p.Glu63Ala Missense 3/6 - 1
12-25380271-C-T c.187G>A p.Glu63Lys Missense 3/6 - 14
12-25380272-C-A c.186G>T p.Glu62Asp Missense 3/6 - 1
12-25380272-C-G c.186G>C p.Glu62Asp Missense 3/6 - 1
12-25380272-CTC-TGT c.184_186delinsACA p.Glu62Thr Missense 3/6 - 1
12-25380274-C-A c.184G>T p.Glu62* Nonsense 3/6 - 1
12-25380274-C-T c.184G>A p.Glu62Lys Missense 3/6 - 2
12-25380275-T-A c.183A>T p.Gln61His Missense 3/6 - 468
12-25380275-T-C c.183A>G p.Gln61Gln Synonymous 3/6 - 1
12-25380275-T-G c.183A>C p.Gln61His Missense 3/6 - 475
12-25380275-TT-GA c.182_183delinsTC p.Gln61Leu Missense 3/6 - 1
12-25380275-TT-GC c.182_183delinsGC p.Gln61Arg Missense 3/6 - 1
12-25380276-T-A c.182A>T p.Gln61Leu Missense 3/6 - 189
12-25380276-T-C c.182A>G p.Gln61Arg Missense 3/6 - 164
12-25380276-T-G c.182A>C p.Gln61Pro Missense 3/6 - 19
12-25380277-G-A c.181C>T p.Gln61* Nonsense 3/6 - 9
12-25380277-GA-TT c.180_181delinsAA p.Gln61Lys Missense 3/6 - 4
12-25380277-G-C c.181C>G p.Gln61Glu Missense 3/6 - 20
12-25380277-G-GTAG c.181_182insTAC p.Gly60_Gln61insLeu InFrameInsertion 3/6 - 1
12-25380277-G-T c.181C>A p.Gln61Lys Missense 3/6 - 113
12-25380278-A-C c.180T>G p.Gly60Gly Synonymous 3/6 - 2
12-25380278-A-G c.180T>C p.Gly60Gly Synonymous 3/6 - 2
12-25380278-A-T c.180T>A p.Gly60Gly Synonymous 3/6 - 2
12-25380279-C-A c.179G>T p.Gly60Val Missense 3/6 - 6
12-25380279-C-G c.179G>C p.Gly60Ala Missense 3/6 - 2
12-25380279-C-T c.179G>A p.Gly60Asp Missense 3/6 - 9
12-25380280-C-G c.178G>C p.Gly60Arg Missense 3/6 - 17
12-25380280-C-T c.178G>A p.Gly60Ser Missense 3/6 - 7
12-25380282-G-A c.176C>T p.Ala59Val Missense 3/6 - 3
12-25380282-G-C c.176C>G p.Ala59Gly Missense 3/6 - 22
12-25380282-G-T c.176C>A p.Ala59Glu Missense 3/6 - 23
12-25380283-C-A c.175G>T p.Ala59Ser Missense 3/6 - 1
12-25380283-C-T c.175G>A p.Ala59Thr Missense 3/6 - 55
12-25380283-GCTG-G c.176_178del p.Ala59del InFrameDeletion 3/6 - 2
12-25380285-G-A c.173C>T p.Thr58Ile Missense 3/6 - 33
12-25380285-G-T c.173C>A p.Thr58Lys Missense 3/6 - 1
12-25380286-T-C c.172A>G p.Thr58Ala Missense 3/6 - 17
12-25380289-C-A c.169G>T p.Asp57Tyr Missense 3/6 - 1
12-25380289-C-T c.169G>A p.Asp57Asn Missense 3/6 - 4
12-25380298-C-A c.160G>T p.Asp54Tyr Missense 3/6 - 3
12-25380299-C-A c.159G>T p.Leu53Phe Missense 3/6 - 1
12-25380299-C-G c.159G>C p.Leu53Phe Missense 3/6 - 1
12-25380300-AA-AG c.157delinsC p.Leu53Leu Missense 3/6 - 1
12-25380301-A-G c.157T>C p.Leu53Leu Synonymous 3/6 - 1
12-25380302-GAG-TAA c.154_156delinsTTA p.Leu52Leu Nonsense 3/6 - 1
12-25380305-A-G c.153T>C p.Cys51Cys Synonymous 3/6 - 1
12-25380306-CA-AC c.151_152delinsGT p.Cys51Val Missense 3/6 - 2
12-25380306-C-T c.152G>A p.Cys51Tyr Missense 3/6 - 1
12-25380306-C-G c.152G>C p.Cys51Ser Missense 3/6 - 4
12-25380307-A-T c.151T>A p.Cys51Ser Missense 3/6 - 4
12-25380309-G-A c.149C>T p.Thr50Ile Missense 3/6 - 6
12-25380310-T-A c.148A>T p.Thr50Ser Missense 3/6 - 1
12-25380310-T-G c.148A>C p.Thr50Pro Missense 3/6 - 2
12-25380312-T-A c.146A>T p.Glu49Val Missense 3/6 - 1
12-25380312-T-G c.146A>C p.Glu49Ala Missense 3/6 - 1
12-25380313-C-T c.145G>A p.Glu49Lys Missense 3/6 - 7
12-25380315-C-T c.143G>A p.Gly48Glu Missense 3/6 - 1
12-25380316-C-G c.142G>C p.Gly48Arg Missense 3/6 - 1
12-25380316-C-T c.142G>A p.Gly48Arg Missense 3/6 - 1
12-25380318-T-G c.140A>C p.Asp47Ala Missense 3/6 - 1
12-25380320-A-C c.138T>G p.Ile46Met Missense 3/6 - 1
12-25380320-A-G c.138T>C p.Ile46Ile Synonymous 3/6 - 1
12-25380320-A-T c.138T>A p.Ile46Ile Synonymous 3/6 - 1
12-25380321-A-G c.137T>C p.Ile46Thr Missense 3/6 - 1
12-25380328-C-T c.130G>A p.Val44Ile Missense 3/6 - 1
12-25380331-G-A c.127C>T p.Gln43* Nonsense 3/6 - 1
12-25380332-C-T c.126G>A p.Lys42Lys Synonymous 3/6 - 1
12-25380332-CT-TC c.125_126delinsGA p.Lys42Arg Missense 3/6 - 1
12-25380339-T-A c.119A>T p.Tyr40Phe Missense 3/6 - 1
12-25380339-TA-GC c.118_119delinsGC p.Tyr40Ala Missense 3/6 - 3
12-25380339-T-C c.119A>G p.Tyr40Cys Missense 3/6 - 6
12-25380340-A-T c.118T>A p.Tyr40Asn Missense 3/6 - 1
12-25380342-G-A c.116C>T p.Ser39Phe Missense 3/6 - 1
12-25380342-G-T c.116C>A p.Ser39Tyr Missense 3/6 - 1
12-25380344-A-C c.114T>G p.Asp38Glu Missense 3/6 - 2
12-25380344-A-G c.114T>C p.Asp38Asp Synonymous 3/6 - 1
12-25380344-A-T c.114T>A p.Asp38Glu Missense 3/6 - 2
12-25380345-T-C c.113A>G p.Asp38Gly Missense 3/6 - 1
12-25380345-T-G c.113A>C p.Asp38Ala Missense 3/6 - 2
12-25380346-C-T c.112G>A p.Asp38Asn Missense 3/6 - 1
12-25382186-T-G c.112-1840A>C - IntronicSNV - 2/5 3
12-25383813-A-G c.112-3467T>C - IntronicSNV - 2/5 1
12-25384658-T-A c.112-4312A>T - IntronicSNV - 2/5 2
12-25384658-T-C c.112-4312A>G - IntronicSNV - 2/5 2
12-25385428-C-T c.112-5082G>A - IntronicSNV - 2/5 1
12-25385910-T-C c.112-5564A>G - IntronicSNV - 2/5 2
12-25389220-A-G c.112-8874T>C - IntronicSNV - 2/5 2
12-25389507-A-C c.111+8701T>G - IntronicSNV - 2/5 1
12-25389507-A-G c.111+8701T>C - IntronicSNV - 2/5 1
12-25391456-C-T c.111+6752G>A - IntronicSNV - 2/5 2
12-25392282-C-T c.111+5926G>A - IntronicSNV - 2/5 3
12-25392443-C-T c.111+5765G>A - IntronicSNV - 2/5 1
12-25393865-A-C c.111+4343T>G - IntronicSNV - 2/5 3
12-25394779-C-T c.111+3429G>A - IntronicSNV - 2/5 2
12-25396576-C-T c.111+1632G>A - IntronicSNV - 2/5 2
12-25398209-T-C c.110A>G p.Glu37Gly Missense 2/6 - 7
12-25398210-C-T c.109G>A p.Glu37Lys Missense 2/6 - 5
12-25398211-TA-AC c.107_108delinsGT p.Ile36Ser Missense 2/6 - 1
12-25398211-T-C c.108A>G p.Ile36Met Missense 2/6 - 12
12-25398214-T-C c.105A>G p.Thr35Thr Synonymous 2/6 - 1
12-25398215-G-A c.104C>T p.Thr35Ile Missense 2/6 - 1
12-25398216-T-A c.103A>T p.Thr35Ser Missense 2/6 - 10
12-25398216-T-C c.103A>G p.Thr35Ala Missense 2/6 - 3
12-25398217-T-A c.102A>T p.Pro34Pro Synonymous 2/6 - 1
12-25398218-G-A c.101C>T p.Pro34Leu Missense 2/6 - 6
12-25398218-G-C c.101C>G p.Pro34Arg Missense 2/6 - 17
12-25398218-G-T c.101C>A p.Pro34Gln Missense 2/6 - 4
12-25398219-G-A c.100C>T p.Pro34Ser Missense 2/6 - 3
12-25398220-A-C c.99T>G p.Asp33Glu Missense 2/6 - 10
12-25398220-A-G c.99T>C p.Asp33Asp Synonymous 2/6 - 2
12-25398220-A-T c.99T>A p.Asp33Glu Missense 2/6 - 10
12-25398222-C-T c.97G>A p.Asp33Asn Missense 2/6 - 3
12-25398224-T-A c.95A>T p.Tyr32Phe Missense 2/6 - 1
12-25398224-T-C c.95A>G p.Tyr32Cys Missense 2/6 - 1
12-25398224-T-G c.95A>C p.Tyr32Ser Missense 2/6 - 1
12-25398226-T-A c.93A>T p.Glu31Asp Missense 2/6 - 2
12-25398228-C-T c.91G>A p.Glu31Lys Missense 2/6 - 3
12-25398229-G-A c.90C>T p.Asp30Asp Synonymous 2/6 - 2
12-25398230-TC-TG c.88delinsC p.Asp30His Missense 2/6 - 1
12-25398231-C-A c.88G>T p.Asp30Tyr Missense 2/6 - 1
12-25398233-A-C c.86T>G p.Val29Gly Missense 2/6 - 1
12-25398233-A-G c.86T>C p.Val29Ala Missense 2/6 - 1
12-25398236-A-G c.83T>C p.Phe28Ser Missense 2/6 - 1
12-25398235-A-C c.84T>G p.Phe28Leu Missense 2/6 - 4
12-25398235-A-T c.84T>A p.Phe28Leu Missense 2/6 - 4
12-25398237-A-G c.82T>C p.Phe28Leu Missense 2/6 - 4
12-25398239-T-A c.80A>T p.His27Leu Missense 2/6 - 1
12-25398239-TG-GC c.79_80delinsGC p.His27Ala Missense 2/6 - 1
12-25398239-TG-GG c.80delinsC p.His27Pro Missense 2/6 - 1
12-25398242-T-A c.77A>T p.Asn26Ile Missense 2/6 - 1
12-25398243-T-A c.76A>T p.Asn26Tyr Missense 2/6 - 1
12-25398244-C-A c.75G>T p.Gln25His Missense 2/6 - 4
12-25398245-T-G c.74A>C p.Gln25Pro Missense 2/6 - 1
12-25398246-G-A c.73C>T p.Gln25* Nonsense 2/6 - 1
12-25398248-A-T c.71T>A p.Ile24Asn Missense 2/6 - 3
12-25398249-T-A c.70A>T p.Ile24Phe Missense 2/6 - 1
12-25398249-T-G c.70A>C p.Ile24Leu Missense 2/6 - 2
12-25398251-A-C c.68T>G p.Leu23Arg Missense 2/6 - 4
12-25398251-AG-GC c.67_68delinsGC p.Leu23Ala Missense 2/6 - 1
12-25398254-T-A c.65A>T p.Gln22Leu Missense 2/6 - 2
12-25398254-T-C c.65A>G p.Gln22Arg Missense 2/6 - 12
12-25398255-G-C c.64C>G p.Gln22Glu Missense 2/6 - 8
12-25398255-G-T c.64C>A p.Gln22Lys Missense 2/6 - 32
12-25398256-TA-GC c.62_63delinsGC p.Ile21Ser Missense 2/6 - 1
12-25398256-T-C c.63A>G p.Ile21Met Missense 2/6 - 1
12-25398260-G-A c.59C>T p.Thr20Met Missense 2/6 - 6
12-25398260-G-C c.59C>G p.Thr20Arg Missense 2/6 - 1
12-25398261-T-A c.58A>T p.Thr20Ser Missense 2/6 - 1
12-25398261-T-C c.58A>G p.Thr20Ala Missense 2/6 - 1
12-25398262-C-A c.57G>T p.Leu19Phe Missense 2/6 - 34
12-25398262-C-G c.57G>C p.Leu19Phe Missense 2/6 - 28
12-25398263-AA-GC c.55_56delinsGC p.Leu19Ala Missense 2/6 - 1
12-25398265-G-A c.54C>T p.Ala18Ala Synonymous 2/6 - 1
12-25398265-G-C c.54C>G p.Ala18Ala Synonymous 2/6 - 1
12-25398265-G-T c.54C>A p.Ala18Ala Synonymous 2/6 - 1
12-25398266-G-C c.53C>G p.Ala18Gly Missense 2/6 - 2
12-25398266-G-T c.53C>A p.Ala18Asp Missense 2/6 - 17
12-25398267-C-T c.52G>A p.Ala18Thr Missense 2/6 - 3
12-25398269-C-CCCA c.49_50insTGG p.Ser17delinsMetGly MultiAAMissense 2/6 - 1
12-25398269-C-T c.50G>A p.Ser17Asn Missense 2/6 - 14
12-25398269-CT-GA c.49_50delinsTC p.Ser17Ser Missense 2/6 - 1
12-25398269-CT-GC c.49_50delinsGC p.Ser17Ala Missense 2/6 - 7
12-25398270-T-A c.49A>T p.Ser17Cys Missense 2/6 - 1
12-25398272-T-C c.47A>G p.Lys16Arg Missense 2/6 - 2
12-25398275-CC-AC c.44delinsT p.Gly15Val Missense 2/6 - 1
12-25398275-CC-TA c.43_44delinsTA p.Gly15Tyr Missense 2/6 - 1
12-25398275-C-G c.44G>C p.Gly15Ala Missense 2/6 - 1
12-25398276-C-A c.43G>T p.Gly15Cys Missense 2/6 - 2
12-25398276-C-G c.43G>C p.Gly15Arg Missense 2/6 - 1
12-25398276-C-T c.43G>A p.Gly15Ser Missense 2/6 - 5
12-25398278-A-C c.41T>G p.Val14Gly Missense 2/6 - 1
12-25398278-A-G c.41T>C p.Val14Ala Missense 2/6 - 2
12-25398279-C-A c.40G>T p.Val14Leu Missense 2/6 - 5
12-25398279-C-G c.40G>C p.Val14Leu Missense 2/6 - 5
12-25398279-C-T c.40G>A p.Val14Ile Missense 2/6 - 56
12-25398280-G-C c.39C>G p.Gly13Gly Synonymous 2/6 - 5
12-25398280-GC-AT c.38_39delinsAT p.Gly13Asp Missense 2/6 - 2
12-25398280-GCC-ATG c.37_39delinsCAT p.Gly13His Missense 2/6 - 1
12-25398280-GC-CT c.38_39delinsAG p.Gly13Glu Missense 2/6 - 1
12-25398280-G-T c.39C>A p.Gly13Gly Synonymous 2/6 - 6
12-25398281-C-A c.38G>T p.Gly13Val Missense 2/6 - 72
12-25398281-CC-AA c.37_38delinsTT p.Gly13Phe Missense 2/6 - 4
12-25398281-CCAC-TGAG c.35_38delinsCTCA p.Gly12_Gly13delinsAlaHis MultiAAMissense 2/6 - 1
12-25398281-CC-TA c.37_38delinsTA p.Gly13Tyr Missense 2/6 - 2
12-25398281-CC-TT c.37_38delinsAA p.Gly13Asn Missense 2/6 - 1
12-25398281-C-G c.38G>C p.Gly13Ala Missense 2/6 - 40
12-25398281-C-T c.38G>A p.Gly13Asp Missense 2/6 - 1433
12-25398282-C-A c.37G>T p.Gly13Cys Missense 2/6 - 272
12-25398282-C-G c.37G>C p.Gly13Arg Missense 2/6 - 75
12-25398282-C-T c.37G>A p.Gly13Ser Missense 2/6 - 72
12-25398283-ACC-AAG c.34_35delinsCT p.Gly12Leu Missense 2/6 - 2
12-25398283-ACC-CAA c.34_36delinsTTG p.Gly12Leu Missense 2/6 - 1
12-25398283-AC-CT c.35_36delinsAG p.Gly12Glu Missense 2/6 - 1
12-25398283-ACC-TGG c.34_36delinsCCA p.Gly12Pro Missense 2/6 - 2
12-25398283-AC-TG c.35_36delinsCA p.Gly12Ala Missense 2/6 - 2
12-25398283-A-G c.36T>C p.Gly12Gly Synonymous 2/6 - 7
12-25398284-ACC-A c.34_35del p.Gly12Trpfs*21 Frameshift 2/6 - 1
12-25398284-C-A c.35G>T p.Gly12Val Missense 2/6 - 2125
12-25398284-CC-AA c.34_35delinsTT p.Gly12Phe Missense 2/6 - 10
12-25398284-CC-AT c.34_35delinsAT p.Gly12Ile Missense 2/6 - 10
12-25398284-CC-TA c.34_35delinsTA p.Gly12Tyr Missense 2/6 - 3
12-25398284-CC-TT c.34_35delinsAA p.Gly12Asn Missense 2/6 - 70
12-25398284-C-G c.35G>C p.Gly12Ala Missense 2/6 - 757
12-25398284-C-T c.35G>A p.Gly12Asp Missense 2/6 - 3455
12-25398285-C-A c.34G>T p.Gly12Cys Missense 2/6 - 1458
12-25398285-CA-AG c.33_34delinsCT p.Gly12Cys Missense 2/6 - 3
12-25398285-C-CTGCACC c.37_38insCAGGTG p.Ala11_Gly12dup InFrameInsertion 2/6 - 4
12-25398285-C-G c.34G>C p.Gly12Arg Missense 2/6 - 628
12-25398285-C-T c.34G>A p.Gly12Ser Missense 2/6 - 816
12-25398286-A-G c.33T>C p.Ala11Ala Synonymous 2/6 - 2
12-25398287-G-A c.32C>T p.Ala11Val Missense 2/6 - 6
12-25398287-GC-TT c.31_32delinsAA p.Ala11Asn Missense 2/6 - 1
12-25398287-G-T c.32C>A p.Ala11Asp Missense 2/6 - 2
12-25398288-C-A c.31G>T p.Ala11Ser Missense 2/6 - 1
12-25398288-C-CACC c.31_32insGTG p.Gly10dup InFrameInsertion 2/6 - 2
12-25398288-C-G c.31G>C p.Ala11Pro Missense 2/6 - 2
12-25398288-C-T c.31G>A p.Ala11Thr Missense 2/6 - 4
12-25398289-T-G c.30A>C p.Gly10Gly Synonymous 2/6 - 1
12-25398290-C-A c.29G>T p.Gly10Val Missense 2/6 - 2
12-25398290-C-G c.29G>C p.Gly10Ala Missense 2/6 - 1
12-25398290-C-T c.29G>A p.Gly10Glu Missense 2/6 - 2
12-25398291-C-G c.28G>C p.Gly10Arg Missense 2/6 - 3
12-25398291-C-T c.28G>A p.Gly10Arg Missense 2/6 - 3
12-25398292-A-G c.27T>C p.Val9Val Synonymous 2/6 - 1
12-25398295-T-C c.24A>G p.Val8Val Synonymous 2/6 - 3
12-25398297-C-T c.22G>A p.Val8Ile Missense 2/6 - 2
12-25398303-G-C c.16C>G p.Leu6Val Missense 2/6 - 1
12-25398303-G-T c.16C>A p.Leu6Ile Missense 2/6 - 1
12-25398304-T-A c.15A>T p.Lys5Asn Missense 2/6 - 4
12-25398304-T-C c.15A>G p.Lys5Lys Synonymous 2/6 - 1
12-25398304-T-G c.15A>C p.Lys5Asn Missense 2/6 - 2
12-25398305-T-C c.14A>G p.Lys5Arg Missense 2/6 - 1
12-25398306-T-C c.13A>G p.Lys5Glu Missense 2/6 - 5
12-25398314-G-A c.5C>T p.Thr2Ile Missense 2/6 - 1
12-25398315-T-C c.4A>G p.Thr2Ala Missense 2/6 - 1
12-25398331-T-A c.-11-2A>T - IntronicSNV - 1/5 1
12-25398972-C-T c.-11-643G>A - IntronicSNV - 1/5 1
12-25398973-G-A c.-11-644C>T - IntronicSNV - 1/5 1
12-25398973-G-C c.-11-644C>G - IntronicSNV - 1/5 1
12-25399121-A-C c.-11-792T>G - IntronicSNV - 1/5 1
12-25401701-T-C c.-12+1984A>G - intron_variant - 1/5 2
12-25403356-C-T c.-12+329G>A - intron_variant - 1/5 1