MSH6 mutS homolog 6

Annotation transcript: NM_000179.3

1714 unique variant annotations were identified in 1007 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-48010367-G-A c.-6G>A - 5-UTRSNV 1/10 - 1
2-48010367-G-C c.-6G>C - 5-UTRSNV 1/10 - 1
2-48010367-G-T c.-6G>T - 5-UTRSNV 1/10 - 1
2-48010373-A-C c.1A>C p.M1? Missense 1/10 - 1
2-48010373-A-G c.1A>G p.M1? Missense 1/10 - 1
2-48010373-TATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGC-T c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/10 - 1
2-48010374-T-G c.2T>G p.M1? Missense 1/10 - 1
2-48010375-G-C c.3G>C p.M1? Missense 1/10 - 1
2-48010376-GTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGCCAA-G c.4_62del p.S2Qfs*68 InFrameDeletion 1/10 - 1
2-48010377-C-T c.5C>T p.S2L Missense 1/10 - 1
2-48010378-G-A c.6G>A p.S2= Synonymous 1/10 - 2
2-48010378-G-C c.6G>C p.S2= Synonymous 1/10 - 2
2-48010378-G-T c.6G>T p.S2= Synonymous 1/10 - 2
2-48010379-C-T c.7C>T p.R3* Nonsense 1/10 - 1
2-48010382-C-G c.10C>G p.Q4E Missense 1/10 - 2
2-48010382-C-T c.10C>T p.Q4* Nonsense 1/10 - 9
2-48010395-TACAG-T c.23_26del p.Y8Sfs*9 Frameshift 1/10 - 1
2-48010403-TT-AA c.31_32inv p.F11N Missense 1/10 - 1
2-48010403-TT-CG c.31_32delinsCG p.F11R Missense 1/10 - 2
2-48010406-C-A c.34C>A p.P12T Missense 1/10 - 1
2-48010406-CC-AA c.34_35delinsAA p.P12N Missense 1/10 - 1
2-48010406-C-G c.34C>G p.P12A Missense 1/10 - 3
2-48010406-C-T c.34C>T p.P12S Missense 1/10 - 1
2-48010410-A-C c.38A>C p.K13T Missense 1/10 - 1
2-48010412-TC-GA c.40_41inv p.S14D Missense 1/10 - 1
2-48010412-T-G c.40T>G p.S14A Missense 1/10 - 5
2-48010413-C-G c.41C>G p.S14C Missense 1/10 - 1
2-48010413-C-T c.41C>T p.S14F Missense 1/10 - 2
2-48010415-C-G c.43C>G p.P15A Missense 1/10 - 1
2-48010415-C-T c.43C>T p.P15S Missense 1/10 - 1
2-48010418-G-A c.46G>A p.A16T Missense 1/10 - 1
2-48010418-GCG-TAT c.46_48delinsTAT p.A16Y Missense 1/10 - 2
2-48010421-CT-GC c.49_50delinsGC p.L17A Missense 1/10 - 1
2-48010423-G-A c.51G>A p.L17= Synonymous 1/10 - 1
2-48010424-AG-GC c.52_53delinsGC p.S18A Missense 1/10 - 2
2-48010424-A-T c.52A>T p.S18C Missense 1/10 - 1
2-48010431-C-A c.59C>A p.A20D Missense 1/10 - 1
2-48010431-C-T c.59C>T p.A20V Missense 1/10 - 3
2-48010436-A-C c.64A>C p.K22Q Missense 1/10 - 1
2-48010436-A-G c.64A>G p.K22E Missense 1/10 - 1
2-48010438-G-A c.66G>A p.K22= Synonymous 1/10 - 1
2-48010438-G-C c.66G>C p.K22N Missense 1/10 - 1
2-48010438-G-T c.66G>T p.K22N Missense 1/10 - 1
2-48010437-AG-A c.67del p.A23Pfs*58 Frameshift 1/10 - 1
2-48010439-G-C c.67G>C p.A23P Missense 1/10 - 1
2-48010443-C-A c.71C>A p.S24* Nonsense 1/10 - 1
2-48010443-C-T c.71C>T p.S24L Missense 1/10 - 3
2-48010445-G-T c.73G>T p.A25S Missense 1/10 - 7
2-48010446-C-T c.74C>T p.A25V Missense 1/10 - 2
2-48010447-C-G c.75C>G p.A25= Synonymous 1/10 - 1
2-48010448-AGG-TGT c.76_78delinsTGT p.R26C Missense 1/10 - 1
2-48010448-A-T c.76A>T p.R26W Missense 1/10 - 1
2-48010448-A-C c.76A>C p.R26= Synonymous 1/10 - 2
2-48010450-G-A c.78G>A p.R26= Synonymous 1/10 - 2
2-48010452-C-T c.80C>T p.A27V Missense 1/10 - 1
2-48010453-C-A c.81C>A p.A27= Synonymous 1/10 - 1
2-48010453-C-G c.81C>G p.A27= Synonymous 1/10 - 1
2-48010453-C-T c.81C>T p.A27= Synonymous 1/10 - 1
2-48010455-C-T c.83C>T p.S28L Missense 1/10 - 1
2-48010456-A-T c.84A>T p.S28= Synonymous 1/10 - 1
2-48010458-G-C c.86G>C p.R29P Missense 1/10 - 1
2-48010460-G-A c.88G>A p.E30K Missense 1/10 - 2
2-48010463-G-A c.91G>A p.G31S Missense 1/10 - 1
2-48010467-G-A c.95G>A p.G32D Missense 1/10 - 1
2-48010467-GC-AG c.95_96delinsAG p.G32E Missense 1/10 - 1
2-48010469-C-G c.97C>G p.R33G Missense 1/10 - 1
2-48010469-CG-GC c.97_98delinsGC p.R33A Missense 1/10 - 1
2-48010469-CGT-TGA c.97_99delinsTGA p.R33* Nonsense 1/10 - 1
2-48010469-C-T c.97C>T p.R33C Missense 1/10 - 1
2-48010474-C-T c.102C>T p.A34= Synonymous 1/10 - 1
2-48010475-CG-C c.103del p.A35Pfs*46 Frameshift 1/10 - 1
2-48010475-GC-TT c.103_104delinsTT p.A35F Missense 1/10 - 1
2-48010476-C-A c.104C>A p.A35D Missense 1/10 - 1
2-48010479-C-T c.107C>T p.A36V Missense 1/10 - 7
2-48010484-CC-AT c.112_113delinsAT p.P38I Missense 1/10 - 1
2-48010485-C-A c.113C>A p.P38H Missense 1/10 - 1
2-48010485-C-T c.113C>T p.P38L Missense 1/10 - 1
2-48010488-G-A c.116G>A p.G39E Missense 1/10 - 60
2-48010488-G-C c.116G>C p.G39A Missense 1/10 - 13
2-48010488-G-T c.116G>T p.G39V Missense 1/10 - 12
2-48010491-C-A c.119C>A p.A40D Missense 1/10 - 1
2-48010494-C-G c.122C>G p.S41C Missense 1/10 - 1
2-48010496-C-A c.124C>A p.P42T Missense 1/10 - 1
2-48010496-C-G c.124C>G p.P42A Missense 1/10 - 2
2-48010496-C-T c.124C>T p.P42S Missense 1/10 - 2
2-48010497-C-A c.125C>A p.P42H Missense 1/10 - 1
2-48010497-C-T c.125C>T p.P42L Missense 1/10 - 1
2-48010497-C-CT c.127dup p.S43Ffs*47 Frameshift 1/10 - 1
2-48010502-C-G c.130C>G p.P44A Missense 1/10 - 1
2-48010503-C-G c.131C>G p.P44R Missense 1/10 - 1
2-48010506-G-A c.134G>A p.G45D Missense 1/10 - 1
2-48010507-C-T c.135C>T p.G45= Synonymous 1/10 - 1
2-48010509-G-T c.137G>T p.G46V Missense 1/10 - 2
2-48010511-G-A c.139G>A p.D47N Missense 1/10 - 1
2-48010514-GCG-TGT c.142_144delinsTGT p.A48C Missense 1/10 - 1
2-48010522-G-A c.150G>A p.W50* Nonsense 1/10 - 1
2-48010522-G-C c.150G>C p.W50C Missense 1/10 - 1
2-48010526-G-A c.154G>A p.E52K Missense 1/10 - 2
2-48010527-AGGCT-CGCCAA c.155_159delinsCGCCAA p.E52Afs*38 Frameshift 1/10 - 1
2-48010529-G-A c.157G>A p.A53T Missense 1/10 - 1
2-48010530-C-A c.158C>A p.A53D Missense 1/10 - 5
2-48010533-G-C c.161G>C p.G54A Missense 1/10 - 1
2-48010533-G-T c.161G>T p.G54V Missense 1/10 - 1
2-48010534-G-A c.162G>A p.G54= Synonymous 1/10 - 1
2-48010534-G-C c.162G>C p.G54= Synonymous 1/10 - 1
2-48010534-G-T c.162G>T p.G54= Synonymous 1/10 - 1
2-48010536-C-T c.164C>T p.P55L Missense 1/10 - 1
2-48010538-G-GGGCCCA c.172_177dup p.R58_P59dup InFrameInsertion 1/10 - 1
2-48010546-G-C c.174G>C p.R58S Missense 1/10 - 1
2-48010546-G-T c.174G>T p.R58S Missense 1/10 - 1
2-48010547-C-G c.175C>G p.P59A Missense 1/10 - 1
2-48010546-G-GC c.177dup p.A61Gfs*29 Frameshift 1/10 - 1
2-48010549-C-CAGGCCT c.177_178insAGGCCT p.R58_P59dup InFrameInsertion 1/10 - 1
2-48010553-GCG-TGT c.181_183delinsTGT p.A61C Missense 1/10 - 1
2-48010556-C-T c.184C>T p.R62C Missense 1/10 - 1
2-48010558-C-A c.186C>A p.R62= Synonymous 1/10 - 4
2-48010558-C-G c.186C>G p.R62= Synonymous 1/10 - 1
2-48010558-C-T c.186C>T p.R62= Synonymous 1/10 - 2
2-48010559-T-C c.187T>C p.S63P Missense 1/10 - 1
2-48010560-C-T c.188C>T p.S63F Missense 1/10 - 1
2-48010563-CG-AC c.191_192delinsAC p.A64D Missense 1/10 - 1
2-48010564-G-A c.192G>A p.A64= Synonymous 1/10 - 1
2-48010564-G-C c.192G>C p.A64= Synonymous 1/10 - 1
2-48010564-G-T c.192G>T p.A64= Synonymous 1/10 - 1
2-48010565-T-A c.193T>A p.S65T Missense 1/10 - 2
2-48010566-C-T c.194C>T p.S65L Missense 1/10 - 2
2-48010568-C-A c.196C>A p.P66T Missense 1/10 - 1
2-48010577-G-A c.205G>A p.A69T Missense 1/10 - 1
2-48010578-C-A c.206C>A p.A69E Missense 1/10 - 1
2-48010578-CG-AC c.206_207delinsAC p.A69D Missense 1/10 - 1
2-48010579-G-A c.207G>A p.A69= Synonymous 1/10 - 2
2-48010579-G-C c.207G>C p.A69= Synonymous 1/10 - 2
2-48010579-G-T c.207G>T p.A69= Synonymous 1/10 - 2
2-48010582-G-T c.210G>T p.K70N Missense 1/10 - 1
2-48010583-A-C c.211A>C p.N71H Missense 1/10 - 1
2-48010598-CT-TC c.226_227delinsTC p.L76S Missense 1/10 - 1
2-48010614-C-A c.242C>A p.A81E Missense 1/10 - 1
2-48010616-C-T c.244C>T p.P82S Missense 1/10 - 1
2-48010621-CTG-C c.249_250del p.A84Pfs*5 Frameshift 1/10 - 1
2-48010622-G-A c.250G>A p.A84T Missense 1/10 - 1
2-48010622-GC-TG c.250_251delinsTG p.A84C Missense 1/10 - 1
2-48010623-C-T c.251C>T p.A84V Missense 1/10 - 1
2-48010624-C-G c.252C>G p.A84= Synonymous 1/10 - 1
2-48010622-G-GC c.255dup p.T86Hfs*4 Frameshift 1/10 - 2
2-48010628-A-C c.256A>C p.T86P Missense 1/10 - 1
2-48010632-G-C c.260G>C p.S87T Missense 1/10 - 1
2-48010633-G-C c.260+1G>C - IntronicSNV - 1/9 1
2-48010634-T-A c.260+2T>A - IntronicSNV - 1/9 1
2-48010654-C-G c.260+22C>G - IntronicSNV - 1/9 1
2-48011234-C-T c.260+602C>T - IntronicSNV - 1/9 1
2-48011272-C-G c.260+640C>G - IntronicSNV - 1/9 1
2-48011277-T-C c.260+645T>C - IntronicSNV - 1/9 1
2-48012086-C-T c.260+1454C>T - IntronicSNV - 1/9 1
2-48012846-C-T c.260+2214C>T - IntronicSNV - 1/9 4
2-48013099-A-G c.260+2467A>G - IntronicSNV - 1/9 2
2-48013238-G-C c.260+2606G>C - IntronicSNV - 1/9 1
2-48013238-G-T c.260+2606G>T - IntronicSNV - 1/9 1
2-48016353-G-A c.261-1713G>A - IntronicSNV - 1/9 1
2-48016896-G-A c.261-1170G>A - IntronicSNV - 1/9 1
2-48016896-G-C c.261-1170G>C - IntronicSNV - 1/9 1
2-48016896-G-T c.261-1170G>T - IntronicSNV - 1/9 1
2-48017768-C-A c.261-298C>A - IntronicSNV - 1/9 1
2-48018030-A-G c.261-36A>G - IntronicSNV - 1/9 1
2-48018075-C-T c.270C>T p.F90= Synonymous 2/10 - 1
2-48018077-C-A c.272C>A p.S91* Nonsense 2/10 - 1
2-48018078-A-C c.273A>C p.S91= Synonymous 2/10 - 1
2-48018080-C-A c.275C>A p.P92Q Missense 2/10 - 1
2-48018081-A-G c.276A>G p.P92= Synonymous 2/10 - 20
2-48018080-CAGG-C c.278_280del p.G93del InFrameDeletion 2/10 - 1
2-48018086-A-AT c.284dup p.L95Ffs*22 Frameshift 2/10 - 1
2-48018094-T-C c.289T>C p.W97R Missense 2/10 - 1
2-48018100-A-T c.295A>T p.K99* Nonsense 2/10 - 1
2-48018102-AG-A c.297del p.M100Wfs*49 Frameshift 2/10 - 1
2-48018102-G-T c.297G>T p.K99N Missense 2/10 - 1
2-48018104-T-C c.299T>C p.M100T Missense 2/10 - 2
2-48018110-G-C c.305G>C p.G102A Missense 2/10 - 1
2-48018112-TA-GC c.307_308delinsGC p.Y103A Missense 2/10 - 1
2-48018116-C-T c.311C>T p.P104L Missense 2/10 - 1
2-48018119-G-A c.314G>A p.W105* Nonsense 2/10 - 1
2-48018120-G-A c.315G>A p.W105* Nonsense 2/10 - 1
2-48018128-G-C c.323G>C p.C108S Missense 2/10 - 1
2-48018130-C-G c.325C>G p.L109V Missense 2/10 - 1
2-48018132-G-C c.327G>C p.L109= Synonymous 2/10 - 1
2-48018133-GT-TG c.328_329delinsTG p.V110C Missense 2/10 - 1
2-48018140-A-G c.335A>G p.N112S Missense 2/10 - 4
2-48018140-A-T c.335A>T p.N112I Missense 2/10 - 1
2-48018142-C-T c.337C>T p.H113Y Missense 2/10 - 1
2-48018143-A-AC c.342dup p.F115Lfs*2 Frameshift 2/10 - 1
2-48018152-A-G c.347A>G p.D116G Missense 2/10 - 1
2-48018155-GGA-G c.350_351del p.G117Dfs*18 Frameshift 2/10 - 1
2-48018158-C-T c.353C>T p.T118I Missense 2/10 - 1
2-48018164-T-C c.359T>C p.I120T Missense 2/10 - 3
2-48018165-C-T c.360C>T p.I120= Synonymous 2/10 - 1
2-48018164-TC-T c.361del p.R121Afs*28 Frameshift 2/10 - 1
2-48018166-C-T c.361C>T p.R121C Missense 2/10 - 2
2-48018167-G-A c.362G>A p.R121H Missense 2/10 - 1
2-48018169-CGAGAA-C c.364_368del p.E122Rfs*12 Frameshift 2/10 - 1
2-48018170-A-T c.365A>T p.E122V Missense 2/10 - 1
2-48018171-G-A c.366G>A p.E122= Synonymous 2/10 - 1
2-48018172-A-G c.367A>G p.K123E Missense 2/10 - 1
2-48018178-A-C c.373A>C p.K125Q Missense 2/10 - 1
2-48018187-C-G c.382C>G p.R128G Missense 2/10 - 1
2-48018187-C-T c.382C>T p.R128C Missense 2/10 - 1
2-48018188-G-A c.383G>A p.R128H Missense 2/10 - 2
2-48018188-G-T c.383G>T p.R128L Missense 2/10 - 5
2-48018196-G-A c.391G>A p.V131I Missense 2/10 - 1
2-48018197-TAC-T c.394_395del p.Q132Vfs*3 Frameshift 2/10 - 1
2-48018199-C-T c.394C>T p.Q132* Nonsense 2/10 - 1
2-48018202-TT-GC c.397_398delinsGC p.F133A Missense 2/10 - 1
2-48018201-GTTTT-G c.399_402del p.F133Lfs*15 Frameshift 2/10 - 1
2-48018201-G-GT c.402dup p.D135* Nonsense 2/10 - 1
2-48018213-C-G c.408C>G p.D136E Missense 2/10 - 1
2-48018217-C-T c.412C>T p.P138S Missense 2/10 - 1
2-48018218-C-A c.413C>A p.P138Q Missense 2/10 - 1
2-48018218-C-T c.413C>T p.P138L Missense 2/10 - 1
2-48018220-A-G c.415A>G p.T139A Missense 2/10 - 1
2-48018225-G-T c.420G>T p.R140S Missense 2/10 - 1
2-48018226-G-T c.421G>T p.G141C Missense 2/10 - 1
2-48018230-G-A c.425G>A p.W142* Nonsense 2/10 - 2
2-48018233-T-A c.428T>A p.V143D Missense 2/10 - 1
2-48018233-T-C c.428T>C p.V143A Missense 2/10 - 1
2-48018236-G-T c.431G>T p.S144I Missense 2/10 - 16
2-48018237-GC-G c.432del p.S144Rfs*5 Frameshift 2/10 - 1
2-48018238-A-C c.433A>C p.K145Q Missense 2/10 - 1
2-48018242-G-A c.437G>A p.R146K Missense 2/10 - 1
2-48018242-G-C c.437G>C p.R146T Missense 2/10 - 1
2-48018245-T-A c.440T>A p.L147H Missense 2/10 - 1
2-48018245-T-C c.440T>C p.L147P Missense 2/10 - 2
2-48018250-A-T c.445A>T p.K149* Nonsense 2/10 - 1
2-48018254-C-T c.449C>T p.P150L Missense 2/10 - 1
2-48018263-G-T c.457+1G>T - IntronicSNV - 2/9 1
2-48018275-A-G c.457+13A>G - IntronicSNV - 2/9 1
2-48018293-T-G c.457+31T>G - IntronicSNV - 2/9 1
2-48018293-TTGTGTG-T c.457+48_457+53del - IntronicDeletion - 2/9 1
2-48018293-TTG-T c.457+52_457+53del - IntronicDeletion - 2/9 1
2-48018314-T-A c.457+52T>A - IntronicSNV - 2/9 2
2-48019485-T-C c.457+1223T>C - IntronicSNV - 2/9 6
2-48022981-G-T c.458-52G>T - IntronicSNV - 2/9 4
2-48023033-G-A c.458G>A p.G153D Missense 3/10 - 1
2-48023034-GTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATAC-G c.460_518del p.S154Efs*8 SpliceAcceptorDeletion 3/10 - 1
2-48023034-T-TCG c.459_460insCG p.S154Rfs*21 SpliceAcceptorInsertion 3/10 - 1
2-48023033-GTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATAC-G c.460_518del p.S154Efs*8 Unclassified 3/10 - 1
2-48023039-A-C c.464A>C p.K155T Missense 3/10 - 1
2-48023042-C-A c.467C>A p.S156* Nonsense 3/10 - 1
2-48023042-C-G c.467C>G p.S156* Nonsense 3/10 - 7
2-48023047-G-A c.472G>A p.E158K Missense 3/10 - 1
2-48023051-C-A c.476C>A p.A159D Missense 3/10 - 1
2-48023051-C-T c.476C>T p.A159V Missense 3/10 - 1
2-48023053-C-T c.478C>T p.Q160* Nonsense 3/10 - 1
2-48023056-AA-GC c.481_482delinsGC p.K161A Missense 3/10 - 1
2-48023056-A-G c.481A>G p.K161E Missense 3/10 - 1
2-48023057-AAG-A c.482_483del p.K161Rfs*10 Frameshift 3/10 - 1
2-48023059-G-A c.484G>A p.G162R Missense 3/10 - 1
2-48023060-G-C c.485G>C p.G162A Missense 3/10 - 1
2-48023069-T-G c.494T>G p.F165C Missense 3/10 - 1
2-48023076-GT-G c.501del p.S167Rfs*7 Frameshift 3/10 - 1
2-48023076-T-C c.501T>C p.S167= Synonymous 3/10 - 1
2-48023077-G-A c.502G>A p.A168T Missense 3/10 - 1
2-48023082-G-A c.507G>A p.K169= Synonymous 3/10 - 1
2-48023083-C-T c.508C>T p.P170S Missense 3/10 - 1
2-48023087-A-G c.512A>G p.E171G Missense 3/10 - 1
2-48023089-A-AT c.515dup p.L173Tfs*9 Frameshift 3/10 - 1
2-48023101-A-G c.526A>G p.M176V Missense 3/10 - 1
2-48023103-TGC-T c.528_529del p.M176Ifs*5 Frameshift 3/10 - 1
2-48023106-A-C c.531A>C p.Q177H Missense 3/10 - 3
2-48023106-A-T c.531A>T p.Q177H Missense 3/10 - 2
2-48023107-C-T c.532C>T p.R178C Missense 3/10 - 6
2-48023108-G-A c.533G>A p.R178H Missense 3/10 - 2
2-48023111-C-G c.536C>G p.A179G Missense 3/10 - 1
2-48023111-C-T c.536C>T p.A179V Missense 3/10 - 1
2-48023113-GA-TT c.538_539delinsTT p.D180F Missense 3/10 - 1
2-48023115-T-C c.540T>C p.D180= Synonymous 3/10 - 17
2-48023115-T-G c.540T>G p.D180E Missense 3/10 - 6
2-48023116-G-T c.541G>T p.E181* Nonsense 3/10 - 1
2-48023117-A-G c.542A>G p.E181G Missense 3/10 - 1
2-48023122-TT-CC c.547_548delinsCC p.L183P Missense 3/10 - 2
2-48023133-C-CA c.560dup p.I188Dfs*2 Frameshift 3/10 - 1
2-48023135-A-C c.560A>C p.K187T Missense 3/10 - 1
2-48023135-A-G c.560A>G p.K187R Missense 3/10 - 1
2-48023136-G-T c.561G>T p.K187N Missense 3/10 - 1
2-48023140-AA-GC c.565_566delinsGC p.K189A Missense 3/10 - 1
2-48023140-A-G c.565A>G p.K189E Missense 3/10 - 1
2-48023142-G-A c.567G>A p.K189= Synonymous 3/10 - 1
2-48023143-AG-TA c.568_569delinsTA p.R190* Nonsense 3/10 - 1
2-48023146-CT-GC c.571_572delinsGC p.L191A Missense 3/10 - 1
2-48023147-T-C c.572T>C p.L191P Missense 3/10 - 1
2-48023157-A-G c.582A>G p.A194= Synonymous 3/10 - 1
2-48023168-A-G c.593A>G p.E198G Missense 3/10 - 1
2-48023169-G-C c.594G>C p.E198D Missense 3/10 - 1
2-48023169-G-T c.594G>T p.E198D Missense 3/10 - 1
2-48023170-C-T c.595C>T p.P199S Missense 3/10 - 1
2-48023171-C-T c.596C>T p.P199L Missense 3/10 - 1
2-48023169-GC-G c.597del p.S200Qfs*11 Frameshift 3/10 - 1
2-48023175-A-T c.600A>T p.S200= Synonymous 3/10 - 1
2-48023176-G-C c.601G>C p.E201Q Missense 3/10 - 1
2-48023178-G-C c.603G>C p.E201D Missense 3/10 - 1
2-48023179-C-G c.604C>G p.P202A Missense 3/10 - 1
2-48023182-G-A c.607G>A p.E203K Missense 3/10 - 1
2-48023185-G-T c.610G>T p.E204* Nonsense 3/10 - 1
2-48023186-A-C c.611A>C p.E204A Missense 3/10 - 1
2-48023187-G-T c.612G>T p.E204D Missense 3/10 - 1
2-48023188-G-A c.613G>A p.E205K Missense 3/10 - 1
2-48023188-GA-TC c.613_614inv p.E205S Missense 3/10 - 1
2-48023192-A-C c.617A>C p.E206A Missense 3/10 - 1
2-48023191-GA-G c.618del p.E207Rfs*4 Frameshift 3/10 - 1
2-48023195-GA-G c.620del p.E207Gfs*4 Frameshift 3/10 - 1
2-48023197-A-G c.622A>G p.M208V Missense 3/10 - 1
2-48024402-T-C c.627+1200T>C - IntronicSNV - 3/9 2
2-48024876-C-T c.628-874C>T - IntronicSNV - 3/9 4
2-48025676-A-G c.628-74A>G - IntronicSNV - 3/9 1
2-48025694-C-T c.628-56C>T - IntronicSNV - 3/9 4
2-48025743-C-A c.628-7C>A - IntronicSNV - 3/9 2
2-48025743-C-T c.628-7C>T - IntronicSNV - 3/9 2
2-48025750-GTA-TTT c.628_630delinsTTT p.V210F Missense 4/10 - 1
2-48025755-C-T c.633C>T p.G211= Synonymous 4/10 - 1
2-48025757-C-G c.635C>G p.T212R Missense 4/10 - 1
2-48025760-C-T c.638C>T p.T213I Missense 4/10 - 1
2-48025761-TTACG-T c.642_645del p.Y214* Frameshift 4/10 - 1
2-48025764-C-A c.642C>A p.Y214* Nonsense 4/10 - 5
2-48025764-C-G c.642C>G p.Y214* Nonsense 4/10 - 4
2-48025764-C-T c.642C>T p.Y214= Synonymous 4/10 - 7
2-48025765-G-A c.643G>A p.V215I Missense 4/10 - 3
2-48025765-G-T c.643G>T p.V215L Missense 4/10 - 1
2-48025766-T-G c.644T>G p.V215G Missense 4/10 - 1
2-48025769-C-G c.647C>G p.T216R Missense 4/10 - 1
2-48025770-A-AT c.648_649insT p.D217* Nonsense 4/10 - 1
2-48025770-A-C c.648A>C p.T216= Synonymous 4/10 - 1
2-48025770-A-G c.648A>G p.T216= Synonymous 4/10 - 1
2-48025770-A-T c.648A>T p.T216= Synonymous 4/10 - 1
2-48025771-G-T c.649G>T p.D217Y Missense 4/10 - 1
2-48025772-A-G c.650A>G p.D217G Missense 4/10 - 1
2-48025772-A-AT c.651dup p.K218* Nonsense 4/10 - 8
2-48025774-A-T c.652A>T p.K218* Nonsense 4/10 - 2
2-48025775-A-G c.653A>G p.K218R Missense 4/10 - 1
2-48025779-T-G c.657T>G p.S219R Missense 4/10 - 1
2-48025781-A-G c.659A>G p.E220G Missense 4/10 - 1
2-48025782-A-C c.660A>C p.E220D Missense 4/10 - 2
2-48025782-A-G c.660A>G p.E220= Synonymous 4/10 - 1
2-48025783-G-C c.661G>C p.E221Q Missense 4/10 - 1
2-48025785-A-C c.663A>C p.E221D Missense 4/10 - 13
2-48025785-A-G c.663A>G p.E221= Synonymous 4/10 - 1
2-48025785-A-T c.663A>T p.E221D Missense 4/10 - 1
2-48025786-G-A c.664G>A p.D222N Missense 4/10 - 1
2-48025788-AT-A c.666del p.D222Efs*24 Frameshift 4/10 - 1
2-48025788-T-A c.666T>A p.D222E Missense 4/10 - 1
2-48025788-T-C c.666T>C p.D222= Synonymous 4/10 - 1
2-48025789-A-C c.667A>C p.N223H Missense 4/10 - 1
2-48025795-A-AT c.675dup p.E226* Nonsense 4/10 - 1
2-48025797-TGAGAGTGAAGAGGAAGTACA-C c.675_695delinsC p.E226Afs*2 Frameshift 4/10 - 1
2-48025802-G-T c.680G>T p.S227I Missense 4/10 - 1
2-48025808-A-G c.686A>G p.E229G Missense 4/10 - 1
2-48025810-GGA-G c.688_689del p.E230Sfs*4 Frameshift 4/10 - 1
2-48025810-G-T c.688G>T p.E230* Nonsense 4/10 - 1
2-48025813-AG-A c.691del p.V231Yfs*15 Frameshift 4/10 - 2
2-48025816-CA-GC c.694_695delinsGC p.Q232A Missense 4/10 - 1
2-48025816-C-T c.694C>T p.Q232* Nonsense 4/10 - 2
2-48025816-C-CA c.695dup p.P233Afs*2 Frameshift 4/10 - 2
2-48025818-GCC-CCT c.696_698delinsCCT p.Q232_P233delinsHL MultiAAMissense 4/10 - 1
2-48025824-GAC-G c.706_707del p.Q236Rfs*3 Frameshift 4/10 - 1
2-48025828-C-T c.706C>T p.Q236* Nonsense 4/10 - 1
2-48025829-A-G c.707A>G p.Q236R Missense 4/10 - 1
2-48025830-AG-A c.710del p.G237Dfs*9 Frameshift 4/10 - 1
2-48025834-TCTAGGCGAAGTAGCCGCC-AAGAGTATTTAAAAAA c.712_730delinsAAGAGTATTTAAAAAA p.S238_Q244delinsKSI* MultiAAMissense 4/10 - 1
2-48025834-T-G c.712T>G p.S238A Missense 4/10 - 1
2-48025837-A-T c.715A>T p.R239W Missense 4/10 - 1
2-48025838-G-C c.716G>C p.R239T Missense 4/10 - 1
2-48025840-C-A c.718C>A p.R240= Synonymous 4/10 - 1
2-48025840-C-T c.718C>T p.R240* Nonsense 4/10 - 8
2-48025841-G-A c.719G>A p.R240Q Missense 4/10 - 3
2-48025841-GA-G c.721del p.S241Vfs*5 Frameshift 4/10 - 1
2-48025843-AG-TT c.721_722delinsTT p.S241F Missense 4/10 - 2
2-48025844-G-GT c.723dup p.S242* Nonsense 4/10 - 1
2-48025847-G-A c.725G>A p.S242N Missense 4/10 - 1
2-48025849-C-T c.727C>T p.R243C Missense 4/10 - 1
2-48025850-G-A c.728G>A p.R243H Missense 4/10 - 1
2-48025859-A-AGGC c.737_738insGGC p.K246_K247insA InFrameInsertion 4/10 - 1
2-48025856-TAAAA-T c.738_741del p.K246Nfs*32 Frameshift 4/10 - 2
2-48025860-A-T c.738A>T p.K246N Missense 4/10 - 1
2-48025862-A-C c.740A>C p.K247T Missense 4/10 - 1
2-48025862-A-T c.740A>T p.K247I Missense 4/10 - 1
2-48025856-TA-T c.741del p.K247Nfs*32 Frameshift 4/10 - 1
2-48025856-T-TA c.741dup p.R248Tfs*8 Frameshift 4/10 - 1
2-48025863-A-AC c.742dup p.R248Pfs*8 Frameshift 4/10 - 1
2-48025864-AC-A c.742del p.R248Efs*31 Frameshift 4/10 - 1
2-48025864-CGA-TGG c.742_744delinsTGG p.R248W Missense 4/10 - 2
2-48025864-C-T c.742C>T p.R248* Nonsense 4/10 - 9
2-48025865-G-A c.743G>A p.R248Q Missense 4/10 - 2
2-48025867-AGG-A c.747_748del p.R249Sfs*6 Frameshift 4/10 - 1
2-48025869-G-T c.747G>T p.R249S Missense 4/10 - 1
2-48025870-GGT-G c.748_749del p.V250Hfs*5 Frameshift 4/10 - 1
2-48025871-T-C c.749T>C p.V250A Missense 4/10 - 1
2-48025873-A-T c.751A>T p.I251L Missense 4/10 - 1
2-48025876-T-G c.754T>G p.S252A Missense 4/10 - 1
2-48025877-C-A c.755C>A p.S252* Nonsense 4/10 - 1
2-48025877-C-G c.755C>G p.S252* Nonsense 4/10 - 2
2-48025877-C-CA c.756dup p.D253Rfs*3 Frameshift 4/10 - 1
2-48025882-T-A c.760T>A p.S254T Missense 4/10 - 1
2-48025882-T-C c.760T>C p.S254P Missense 4/10 - 1
2-48025882-T-G c.760T>G p.S254A Missense 4/10 - 1
2-48025883-C-CT c.762dup p.E255* Nonsense 4/10 - 2
2-48025885-G-A c.763G>A p.E255K Missense 4/10 - 1
2-48025884-TGA-T c.766_767del p.S256* Frameshift 4/10 - 1
2-48025888-AG-GC c.766_767delinsGC p.S256A Missense 4/10 - 1
2-48025890-T-C c.768T>C p.S256= Synonymous 4/10 - 1
2-48025891-G-A c.769G>A p.D257N Missense 4/10 - 1
2-48025891-G-GA c.770dup p.D257Efs*6 Frameshift 4/10 - 1
2-48025894-A-G c.772A>G p.I258V Missense 4/10 - 1
2-48025902-C-G c.780C>G p.G260= Synonymous 4/10 - 1
2-48025903-T-G c.781T>G p.S261A Missense 4/10 - 1
2-48025909-G-A c.787G>A p.V263M Missense 4/10 - 1
2-48025916-T-G c.794T>G p.F265C Missense 4/10 - 1
2-48025920-AGCCAGACACT-A c.798_807del p.P267Rfs*9 Frameshift 4/10 - 1
2-48025920-GC-G c.800del p.P267Qfs*12 Frameshift 4/10 - 1
2-48025924-G-C c.802G>C p.D268H Missense 4/10 - 1
2-48025926-C-T c.804C>T p.D268= Synonymous 4/10 - 1
2-48025927-A-G c.805A>G p.T269A Missense 4/10 - 1
2-48025928-C-G c.806C>G p.T269S Missense 4/10 - 2
2-48025932-G-A c.810G>A p.K270= Synonymous 4/10 - 1
2-48025932-G-T c.810G>T p.K270N Missense 4/10 - 2
2-48025933-G-A c.811G>A p.E271K Missense 4/10 - 1
2-48025936-G-T c.814G>T p.E272* Nonsense 4/10 - 2
2-48025940-G-A c.818G>A p.G273E Missense 4/10 - 1
2-48025940-G-C c.818G>C p.G273A Missense 4/10 - 1
2-48025940-G-T c.818G>T p.G273V Missense 4/10 - 1
2-48025943-G-A c.821G>A p.S274N Missense 4/10 - 1
2-48025946-G-C c.824G>C p.S275T Missense 4/10 - 1
2-48025951-G-T c.829G>T p.E277* Nonsense 4/10 - 1
2-48025958-AG-A c.836del p.S279Tfs*12 Frameshift 4/10 - 1
2-48025960-AG-TT c.838_839delinsTT p.S280F Missense 4/10 - 1
2-48025963-GG-AC c.841_842delinsAC p.G281T Missense 4/10 - 1
2-48025965-A-AAC c.843_844insAC p.V282Tfs*10 Frameshift 4/10 - 2
2-48025966-G-GT c.845dup p.D284Gfs*2 Frameshift 4/10 - 1
2-48025968-G-C c.846G>C p.V282= Synonymous 4/10 - 1
2-48025974-T-C c.852T>C p.D284= Synonymous 4/10 - 1
2-48025976-G-T c.854G>T p.S285I Missense 4/10 - 5
2-48025978-G-A c.856G>A p.E286K Missense 4/10 - 1
2-48025984-G-A c.862G>A p.E288K Missense 4/10 - 1
2-48025984-G-T c.862G>T p.E288* Nonsense 4/10 - 1
2-48025988-G-A c.866G>A p.G289D Missense 4/10 - 1
2-48025988-G-C c.866G>C p.G289A Missense 4/10 - 2
2-48025989-C-A c.867C>A p.G289= Synonymous 4/10 - 1
2-48025988-GC-G c.868del p.L290* Frameshift 4/10 - 1
2-48025991-T-A c.869T>A p.L290Q Missense 4/10 - 1
2-48025995-C-T c.873C>T p.N291= Synonymous 4/10 - 1
2-48026005-A-G c.883A>G p.K295E Missense 4/10 - 1
2-48026006-A-C c.884A>C p.K295T Missense 4/10 - 1
2-48026006-A-G c.884A>G p.K295R Missense 4/10 - 5
2-48026006-A-T c.884A>T p.K295I Missense 4/10 - 2
2-48026008-G-T c.886G>T p.V296F Missense 4/10 - 1
2-48026014-C-T c.892C>T p.R298* Nonsense 4/10 - 7
2-48026015-G-A c.893G>A p.R298Q Missense 4/10 - 2
2-48026015-G-C c.893G>C p.R298P Missense 4/10 - 1
2-48026018-A-C c.896A>C p.K299T Missense 4/10 - 1
2-48026019-G-A c.897G>A p.K299= Synonymous 4/10 - 1
2-48026020-CG-TA c.898_899delinsTA p.R300* Nonsense 4/10 - 1
2-48026021-G-A c.899G>A p.R300Q Missense 4/10 - 2
2-48026021-G-C c.899G>C p.R300P Missense 4/10 - 1
2-48026021-G-T c.899G>T p.R300L Missense 4/10 - 1
2-48026020-C-CG c.900dup p.K301Efs*11 Frameshift 4/10 - 2
2-48026025-G-C c.903G>C p.K301N Missense 4/10 - 1
2-48026025-G-T c.903G>T p.K301N Missense 4/10 - 1
2-48026026-A-T c.904A>T p.R302* Nonsense 4/10 - 1
2-48026035-A-T c.913A>T p.T305S Missense 4/10 - 1
2-48026037-T-A c.915T>A p.T305= Synonymous 4/10 - 1
2-48026038-G-T c.916G>T p.G306* Nonsense 4/10 - 1
2-48026039-G-C c.917G>C p.G306A Missense 4/10 - 1
2-48026043-T-A c.921T>A p.N307K Missense 4/10 - 1
2-48026043-T-G c.921T>G p.N307K Missense 4/10 - 1
2-48026048-C-A c.926C>A p.S309Y Missense 4/10 - 2
2-48026048-C-G c.926C>G p.S309C Missense 4/10 - 3
2-48026049-T-C c.927T>C p.S309= Synonymous 4/10 - 1
2-48026050-C-CT c.930dup p.K311* Nonsense 4/10 - 1
2-48026053-TAAAAG-T c.931_935del p.K311Efs*4 Frameshift 4/10 - 1
2-48026052-TAAAAGG-T c.936_941del p.R312_K313del InFrameDeletion 4/10 - 1
2-48026062-AG-GC c.940_941delinsGC p.S314A Missense 4/10 - 1
2-48026062-A-T c.940A>T p.S314C Missense 4/10 - 1
2-48026066-C-G c.944C>G p.S315C Missense 4/10 - 1
2-48026066-C-T c.944C>T p.S315F Missense 4/10 - 1
2-48026068-AG-GA c.946_947delinsGA p.R316E Missense 4/10 - 1
2-48026069-G-A c.947G>A p.R316K Missense 4/10 - 2
2-48026069-G-C c.947G>C p.R316T Missense 4/10 - 1
2-48026074-G-A c.952G>A p.E318K Missense 4/10 - 1
2-48026077-A-G c.955A>G p.T319A Missense 4/10 - 1
2-48026078-C-T c.956C>T p.T319M Missense 4/10 - 2
2-48026079-G-C c.957G>C p.T319= Synonymous 4/10 - 1
2-48026090-C-G c.968C>G p.T323S Missense 4/10 - 2
2-48026094-A-C c.972A>C p.K324N Missense 4/10 - 1
2-48026094-A-G c.972A>G p.K324= Synonymous 4/10 - 1
2-48026094-A-T c.972A>T p.K324N Missense 4/10 - 1
2-48026095-C-T c.973C>T p.Q325* Nonsense 4/10 - 1
2-48026099-C-A c.977C>A p.A326E Missense 4/10 - 1
2-48026106-C-T c.984C>T p.S328= Synonymous 4/10 - 1
2-48026111-C-T c.989C>T p.S330L Missense 4/10 - 1
2-48026112-A-G c.990A>G p.S330= Synonymous 4/10 - 1
2-48026112-A-T c.990A>T p.S330= Synonymous 4/10 - 2
2-48026115-A-G c.993A>G p.S331= Synonymous 4/10 - 1
2-48026120-C-T c.998C>T p.T333I Missense 4/10 - 1
2-48026124-G-T c.1002G>T p.K334N Missense 4/10 - 1
2-48026126-A-G c.1004A>G p.N335S Missense 4/10 - 1
2-48026133-G-A c.1011G>A p.L337= Synonymous 4/10 - 1
2-48026134-A-G c.1012A>G p.R338G Missense 4/10 - 1
2-48026134-AG-CA c.1012_1013delinsCA p.R338Q Missense 4/10 - 1
2-48026139-T-C c.1017T>C p.A339= Synonymous 4/10 - 1
2-48026141-T-C c.1019T>C p.F340S Missense 4/10 - 3
2-48026146-G-T c.1024G>T p.A342S Missense 4/10 - 1
2-48026150-C-T c.1028C>T p.P343L Missense 4/10 - 2
2-48026152-C-T c.1030C>T p.Q344* Nonsense 4/10 - 2
2-48026153-A-G c.1031A>G p.Q344R Missense 4/10 - 1
2-48026152-CAA-C c.1033_1034del p.N345Ffs*2 Frameshift 4/10 - 1
2-48026155-AA-GC c.1033_1034delinsGC p.N345A Missense 4/10 - 1
2-48026155-A-T c.1033A>T p.N345Y Missense 4/10 - 1
2-48026156-A-G c.1034A>G p.N345S Missense 4/10 - 1
2-48026159-C-G c.1037C>G p.S346C Missense 4/10 - 2
2-48026164-TCC-T c.1044_1045del p.Q349Sfs*4 Frameshift 4/10 - 1
2-48026171-C-T c.1049C>T p.A350V Missense 4/10 - 1
2-48026172-C-T c.1050C>T p.A350= Synonymous 4/10 - 1
2-48026180-G-A c.1058G>A p.S353N Missense 4/10 - 1
2-48026185-G-A c.1063G>A p.G355S Missense 4/10 - 13
2-48026189-G-T c.1067G>T p.G356V Missense 4/10 - 1
2-48026190-T-C c.1068T>C p.G356= Synonymous 4/10 - 2
2-48026190-T-G c.1068T>G p.G356= Synonymous 4/10 - 1
2-48026191-G-A c.1069G>A p.D357N Missense 4/10 - 1
2-48026192-A-C c.1070A>C p.D357A Missense 4/10 - 1
2-48026194-G-C c.1072G>C p.D358H Missense 4/10 - 1
2-48026201-G-T c.1079G>T p.S360I Missense 4/10 - 1
2-48026203-CG-GC c.1081_1082delinsGC p.R361A Missense 4/10 - 1
2-48026204-G-A c.1082G>A p.R361H Missense 4/10 - 8
2-48026204-G-T c.1082G>T p.R361L Missense 4/10 - 1
2-48026206-C-T c.1084C>T p.P362S Missense 4/10 - 1
2-48026204-GC-G c.1085del p.P362Lfs*9 Frameshift 4/10 - 1
2-48026216-G-A c.1094G>A p.W365* Nonsense 4/10 - 2
2-48026217-G-A c.1095G>A p.W365* Nonsense 4/10 - 2
2-48026220-T-C c.1098T>C p.Y366= Synonymous 4/10 - 1
2-48026221-C-G c.1099C>G p.H367D Missense 4/10 - 1
2-48026222-A-G c.1100A>G p.H367R Missense 4/10 - 2
2-48026224-G-T c.1102G>T p.E368* Nonsense 4/10 - 1
2-48026231-T-C c.1109T>C p.L370S Missense 4/10 - 7
2-48026244-G-C c.1122G>C p.K374N Missense 4/10 - 1
2-48026244-G-T c.1122G>T p.K374N Missense 4/10 - 1
2-48026246-A-T c.1124A>T p.E375V Missense 4/10 - 1
2-48026248-G-T c.1126G>T p.E376* Nonsense 4/10 - 1
2-48026252-A-C c.1130A>C p.K377T Missense 4/10 - 1
2-48026251-AAG-A c.1133_1134del p.R378Kfs*3 Frameshift 4/10 - 1
2-48026255-G-A c.1133G>A p.R378K Missense 4/10 - 1
2-48026250-AAAGAG-A c.1135_1139del p.R379* Frameshift 4/10 - 5
2-48026257-A-G c.1135A>G p.R379G Missense 4/10 - 1
2-48026257-AGA-TGT c.1135_1137delinsTGT p.R379C Missense 4/10 - 1
2-48026257-A-T c.1135A>T p.R379* Nonsense 4/10 - 1
2-48026258-G-A c.1136G>A p.R379K Missense 4/10 - 1
2-48026257-AGAGAT-A c.1139_1143del p.D380Afs*6 Frameshift 4/10 - 2
2-48026261-A-C c.1139A>C p.D380A Missense 4/10 - 1
2-48026263-G-A c.1141G>A p.E381K Missense 4/10 - 1
2-48026263-TGAG-T c.1141_1143del p.E381del InFrameDeletion 4/10 - 1
2-48026265-G-GA c.1143_1144insA p.H382Tfs*6 Frameshift 4/10 - 1
2-48026273-G-A c.1151G>A p.R384K Missense 4/10 - 1
2-48026268-CAGG-C c.1153_1155del p.R385del InFrameDeletion 4/10 - 1
2-48026275-A-C c.1153A>C p.R385= Synonymous 4/10 - 1
2-48026275-AGG-CAT c.1153_1155delinsCAT p.R385H Missense 4/10 - 1
2-48026276-G-A c.1154G>A p.R385K Missense 4/10 - 2
2-48026278-C-A c.1156C>A p.P386T Missense 4/10 - 1
2-48026279-C-G c.1157C>G p.P386R Missense 4/10 - 1
2-48026281-G-A c.1159G>A p.D387N Missense 4/10 - 2
2-48026281-G-T c.1159G>T p.D387Y Missense 4/10 - 1
2-48026280-T-TGAGATACGGC c.1160_1161insGATACGGCGA p.D387Efs*9 Frameshift 4/10 - 1
2-48026285-A-T c.1163A>T p.H388L Missense 4/10 - 1
2-48026286-C-T c.1164C>T p.H388= Synonymous 4/10 - 4
2-48026287-C-T c.1165C>T p.P389S Missense 4/10 - 1
2-48026289-C-A c.1167C>A p.P389= Synonymous 4/10 - 1
2-48026290-G-A c.1168G>A p.D390N Missense 4/10 - 2
2-48026291-AT-A c.1173del p.F391Lfs*20 Frameshift 4/10 - 1
2-48026300-C-A c.1178C>A p.A393E Missense 4/10 - 1
2-48026300-C-G c.1178C>G p.A393G Missense 4/10 - 1
2-48026308-C-G c.1186C>G p.L396V Missense 4/10 - 11
2-48026307-ACT-A c.1188_1189del p.Y397Cfs*3 Frameshift 4/10 - 1
2-48026310-C-CT c.1189dup p.Y397Lfs*4 Frameshift 4/10 - 1
2-48026310-C-CTT c.1189_1190insTT p.Y397Ffs*15 Frameshift 4/10 - 1
2-48026311-CTAT-C c.1189_1191del p.Y397del InFrameDeletion 4/10 - 1
2-48026310-CTA-C c.1190_1191del p.Y397Cfs*3 Frameshift 4/10 - 1
2-48026312-A-G c.1190A>G p.Y397C Missense 4/10 - 2
2-48026314-G-T c.1192G>T p.V398L Missense 4/10 - 1
2-48026314-TG-T c.1192del p.V398Cfs*13 Frameshift 4/10 - 1
2-48026315-T-A c.1193T>A p.V398E Missense 4/10 - 2
2-48026318-C-T c.1196C>T p.P399L Missense 4/10 - 1
2-48026322-G-A c.1200G>A p.E400= Synonymous 4/10 - 1
2-48026323-G-T c.1201G>T p.D401Y Missense 4/10 - 1
2-48026324-A-AT c.1205dup p.L403Pfs*15 Frameshift 4/10 - 1
2-48026328-C-T c.1206C>T p.F402= Synonymous 4/10 - 1
2-48026333-A-G c.1211A>G p.N404S Missense 4/10 - 1
2-48026336-C-G c.1214C>G p.S405C Missense 4/10 - 2
2-48026336-C-T c.1214C>T p.S405F Missense 4/10 - 1
2-48026338-TG-AC c.1216_1217delinsAC p.C406T Missense 4/10 - 1
2-48026344-C-CT c.1222_1223insT p.P408Lfs*10 Frameshift 4/10 - 1
2-48026344-C-T c.1222C>T p.P408S Missense 4/10 - 2
2-48026348-G-A c.1226G>A p.G409E Missense 4/10 - 2
2-48026350-A-G c.1228A>G p.M410V Missense 4/10 - 1
2-48026352-G-A c.1230G>A p.M410I Missense 4/10 - 1
2-48026354-G-C c.1232G>C p.R411T Missense 4/10 - 1
2-48026357-A-C c.1235A>C p.K412T Missense 4/10 - 1
2-48026363-G-A c.1241G>A p.W414* Nonsense 4/10 - 1
2-48026364-G-A c.1242G>A p.W414* Nonsense 4/10 - 1
2-48026365-C-T c.1243C>T p.Q415* Nonsense 4/10 - 1
2-48026368-A-AT c.1248dup p.K417* Nonsense 4/10 - 1
2-48026375-C-T c.1253C>T p.S418F Missense 4/10 - 1
2-48026377-C-T c.1255C>T p.Q419* Nonsense 4/10 - 1
2-48026385-T-C c.1263T>C p.F421= Synonymous 4/10 - 1
2-48026387-A-C c.1265A>C p.D422A Missense 4/10 - 1
2-48026392-G-C c.1270G>C p.V424L Missense 4/10 - 1
2-48026393-T-C c.1271T>C p.V424A Missense 4/10 - 2
2-48026395-A-G c.1273A>G p.I425V Missense 4/10 - 2
2-48026397-C-G c.1275C>G p.I425M Missense 4/10 - 1
2-48026403-C-T c.1281C>T p.Y427= Synonymous 4/10 - 1
2-48026404-A-C c.1282A>C p.K428Q Missense 4/10 - 1
2-48026404-A-G c.1282A>G p.K428E Missense 4/10 - 1
2-48026405-A-T c.1283A>T p.K428M Missense 4/10 - 1
2-48026405-A-AG c.1285dup p.V429Gfs*6 Frameshift 4/10 - 1
2-48026417-T-C c.1295T>C p.F432S Missense 4/10 - 2
2-48026417-T-G c.1295T>G p.F432C Missense 4/10 - 1
2-48026426-T-C c.1304T>C p.L435P Missense 4/10 - 3
2-48026431-C-T c.1309C>T p.H437Y Missense 4/10 - 1
2-48026438-A-G c.1316A>G p.D439G Missense 4/10 - 3
2-48026440-G-A c.1318G>A p.A440T Missense 4/10 - 1
2-48026447-T-C c.1325T>C p.I442T Missense 4/10 - 1
2-48026452-G-A c.1330G>A p.V444I Missense 4/10 - 1
2-48026457-T-TC c.1335_1336insC p.E446Rfs*18 Frameshift 4/10 - 1
2-48026458-G-T c.1336G>T p.E446* Nonsense 4/10 - 1
2-48026459-A-G c.1337A>G p.E446G Missense 4/10 - 1
2-48026461-C-T c.1339C>T p.L447= Synonymous 4/10 - 1
2-48026468-T-C c.1346T>C p.L449P Missense 4/10 - 7
2-48026471-GTATTCATGA-G c.1349_1357del p.V450_K453delinsE MultiAAMissense 4/10 - 1
2-48026470-GTA-G c.1350_1351del p.F451Hfs*12 Frameshift 4/10 - 1
2-48026472-AT-A c.1352del p.F451Sfs*2 Frameshift 4/10 - 1
2-48026489-G-A c.1367G>A p.W456* Nonsense 4/10 - 1
2-48026490-G-A c.1368G>A p.W456* Nonsense 4/10 - 1
2-48026491-G-C c.1369G>C p.A457P Missense 4/10 - 1
2-48026493-C-T c.1371C>T p.A457= Synonymous 4/10 - 1
2-48026497-T-A c.1375T>A p.S459T Missense 4/10 - 1
2-48026498-C-T c.1376C>T p.S459F Missense 4/10 - 2
2-48026500-G-A c.1378G>A p.G460S Missense 4/10 - 3
2-48026501-G-C c.1379G>C p.G460A Missense 4/10 - 1
2-48026502-C-G c.1380C>G p.G460= Synonymous 4/10 - 1
2-48026507-C-T c.1385C>T p.P462L Missense 4/10 - 1
2-48026511-A-G c.1389A>G p.E463= Synonymous 4/10 - 1
2-48026516-C-G c.1394C>G p.A465G Missense 4/10 - 1
2-48026517-A-T c.1395A>T p.A465= Synonymous 4/10 - 1
2-48026525-G-A c.1403G>A p.R468H Missense 4/10 - 7
2-48026525-G-C c.1403G>C p.R468P Missense 4/10 - 1
2-48026525-GT-G c.1405del p.Y469Ifs*12 Frameshift 4/10 - 2
2-48026528-A-G c.1406A>G p.Y469C Missense 4/10 - 1
2-48026529-T-C c.1407T>C p.Y469= Synonymous 4/10 - 1
2-48026531-C-G c.1409C>G p.S470* Nonsense 4/10 - 1
2-48026531-C-T c.1409C>T p.S470L Missense 4/10 - 1
2-48026541-G-GGT c.1421_1422dup p.Q475Cfs*7 Frameshift 4/10 - 1
2-48026543-T-C c.1421T>C p.V474A Missense 4/10 - 1
2-48026544-G-C c.1422G>C p.V474= Synonymous 4/10 - 1
2-48026544-GC-AT c.1422_1423delinsAT p.Q475* Missense 4/10 - 1
2-48026548-A-G c.1426A>G p.K476E Missense 4/10 - 1
2-48026552-G-A c.1430G>A p.G477D Missense 4/10 - 1
2-48026558-A-C c.1436A>C p.K479T Missense 4/10 - 1
2-48026561-T-A c.1439T>A p.V480E Missense 4/10 - 2
2-48026566-C-A c.1444C>A p.R482= Synonymous 4/10 - 1
2-48026566-C-G c.1444C>G p.R482G Missense 4/10 - 1
2-48026566-C-T c.1444C>T p.R482* Nonsense 4/10 - 11
2-48026567-G-A c.1445G>A p.R482Q Missense 4/10 - 2
2-48026569-G-T c.1447G>T p.V483L Missense 4/10 - 1
2-48026571-G-C c.1449G>C p.V483= Synonymous 4/10 - 1
2-48026571-G-T c.1449G>T p.V483= Synonymous 4/10 - 1
2-48026572-G-A c.1450G>A p.E484K Missense 4/10 - 2
2-48026575-C-T c.1453C>T p.Q485* Nonsense 4/10 - 2
2-48026580-CTG-C c.1458_1459del p.E487Dfs*10 Frameshift 4/10 - 1
2-48026581-G-A c.1459G>A p.E487K Missense 4/10 - 1
2-48026583-G-C c.1461G>C p.E487D Missense 4/10 - 1
2-48026583-G-T c.1461G>T p.E487D Missense 4/10 - 1
2-48026592-AATG-A c.1474_1476del p.M492del InFrameDeletion 4/10 - 1
2-48026596-A-G c.1474A>G p.M492V Missense 4/10 - 2
2-48026597-T-C c.1475T>C p.M492T Missense 4/10 - 1
2-48026600-A-G c.1478A>G p.E493G Missense 4/10 - 1
2-48026602-G-C c.1480G>C p.A494P Missense 4/10 - 1
2-48026603-C-T c.1481C>T p.A494V Missense 4/10 - 2
2-48026605-C-T c.1483C>T p.R495* Nonsense 4/10 - 10
2-48026606-G-A c.1484G>A p.R495Q Missense 4/10 - 2
2-48026609-G-A c.1487G>A p.C496Y Missense 4/10 - 1
2-48026610-T-C c.1488T>C p.C496= Synonymous 4/10 - 1
2-48026611-A-T c.1489A>T p.R497* Nonsense 4/10 - 1
2-48026612-G-A c.1490G>A p.R497K Missense 4/10 - 1
2-48026612-G-GC c.1490_1491insC p.R497Sfs*10 Frameshift 4/10 - 1
2-48026615-A-AG c.1494dup p.M499Dfs*8 Frameshift 4/10 - 1
2-48026623-C-T c.1501C>T p.H501Y Missense 4/10 - 2
2-48026628-A-G c.1506A>G p.I502M Missense 4/10 - 1
2-48026630-C-G c.1508C>G p.S503C Missense 4/10 - 7
2-48026630-C-T c.1508C>T p.S503F Missense 4/10 - 2
2-48026638-G-A c.1516G>A p.D506N Missense 4/10 - 1
2-48026640-T-TA c.1519dup p.R507Kfs*9 Frameshift 4/10 - 5
2-48026644-G-GTCACTGCATCT c.1523_1524insCACTGCATCTT p.V509Tfs*5 Frameshift 4/10 - 1
2-48026648-T-C c.1526T>C p.V509A Missense 4/10 - 10
2-48026649-G-A c.1527G>A p.V509= Synonymous 4/10 - 1
2-48026650-A-G c.1528A>G p.R510G Missense 4/10 - 1
2-48026651-G-GGGGCTTTGGT c.1530_1531insGGCTTTGGTG p.R511Gfs*8 Frameshift 4/10 - 1
2-48026653-A-G c.1531A>G p.R511G Missense 4/10 - 2
2-48026653-AGG-CAT c.1531_1533delinsCAT p.R511H Missense 4/10 - 2
2-48026656-G-GT c.1534_1535insT p.E512Vfs*4 Frameshift 4/10 - 1
2-48026660-AT-A c.1538del p.I513Tfs*58 Frameshift 4/10 - 1
2-48026661-C-A c.1539C>A p.I513= Synonymous 4/10 - 1
2-48026661-C-G c.1539C>G p.I513M Missense 4/10 - 1
2-48026687-A-G c.1565A>G p.Q522R Missense 4/10 - 2
2-48026695-A-G c.1573A>G p.S525G Missense 4/10 - 1
2-48026698-G-C c.1576G>C p.V526L Missense 4/10 - 1
2-48026698-G-T c.1576G>T p.V526L Missense 4/10 - 1
2-48026703-G-C c.1581G>C p.L527= Synonymous 4/10 - 1
2-48026707-G-T c.1585G>T p.G529C Missense 4/10 - 1
2-48026709-T-A c.1587T>A p.G529= Synonymous 4/10 - 1
2-48026709-T-C c.1587T>C p.G529= Synonymous 4/10 - 1
2-48026709-T-G c.1587T>G p.G529= Synonymous 4/10 - 1
2-48026711-A-G c.1589A>G p.D530G Missense 4/10 - 1
2-48026713-C-T c.1591C>T p.P531S Missense 4/10 - 1
2-48026715-C-G c.1593C>G p.P531= Synonymous 4/10 - 1
2-48026716-T-G c.1594T>G p.S532A Missense 4/10 - 1
2-48026720-A-AG c.1599dup p.N534Efs*4 Frameshift 4/10 - 1
2-48026721-G-C c.1599G>C p.E533D Missense 4/10 - 1
2-48026724-C-A c.1602C>A p.N534K Missense 4/10 - 1
2-48026731-A-G c.1609A>G p.K537E Missense 4/10 - 1
2-48026727-CAGTA-C c.1610_1613del p.K537Ifs*33 Frameshift 4/10 - 3
2-48026732-AGTATCTTCTTAGCCTCAAAGAAAAAGAGGAAGATTCTTCTGGCCATACTCGTGCATATG-A c.1613_1671del p.Y538Cfs*5 SpliceDonorDeletion 4/10 - 1
2-48026733-G-GT c.1612dup p.Y538Lfs*4 Frameshift 4/10 - 1
2-48026735-A-C c.1613A>C p.Y538S Missense 4/10 - 1
2-48026735-A-G c.1613A>G p.Y538C Missense 4/10 - 2
2-48026736-T-A c.1614T>A p.Y538* Nonsense 4/10 - 1
2-48026736-T-G c.1614T>G p.Y538* Nonsense 4/10 - 1
2-48026738-T-A c.1616T>A p.L539H Missense 4/10 - 1
2-48026735-ATCT-A c.1618_1620del p.L540del InFrameDeletion 4/10 - 1
2-48026742-T-G c.1620T>G p.L540= Synonymous 4/10 - 1
2-48026743-A-G c.1621A>G p.S541G Missense 4/10 - 1
2-48026744-G-C c.1622G>C p.S541T Missense 4/10 - 1
2-48026743-A-C c.1621A>C p.S541R Missense 4/10 - 2
2-48026745-C-A c.1623C>A p.S541R Missense 4/10 - 1
2-48026745-C-G c.1623C>G p.S541R Missense 4/10 - 1
2-48026748-CAA-C c.1628_1629del p.K543Rfs*19 Frameshift 4/10 - 1
2-48026750-A-G c.1628A>G p.K543R Missense 4/10 - 1
2-48026752-AG-A c.1630del p.E544Kfs*27 Frameshift 4/10 - 1
2-48026752-G-T c.1630G>T p.E544* Nonsense 4/10 - 1
2-48026752-GAA-G c.1634_1635del p.K545Rfs*17 Frameshift 4/10 - 1
2-48026757-A-C c.1635A>C p.K545N Missense 4/10 - 1
2-48026757-A-T c.1635A>T p.K545N Missense 4/10 - 1
2-48026758-G-T c.1636G>T p.E546* Nonsense 4/10 - 1
2-48026760-G-A c.1638G>A p.E546= Synonymous 4/10 - 1
2-48026763-A-C c.1641A>C p.E547D Missense 4/10 - 1
2-48026768-C-T c.1646C>T p.S549F Missense 4/10 - 1
2-48026770-TC-CG c.1648_1649delinsCG p.S550R Missense 4/10 - 1
2-48026771-C-G c.1649C>G p.S550C Missense 4/10 - 1
2-48026773-G-A c.1651G>A p.G551S Missense 4/10 - 1
2-48026774-G-A c.1652G>A p.G551D Missense 4/10 - 1
2-48026777-A-T c.1655A>T p.H552L Missense 4/10 - 1
2-48026783-G-A c.1661G>A p.R554H Missense 4/10 - 2
2-48026785-G-A c.1663G>A p.A555T Missense 4/10 - 1
2-48026785-G-C c.1663G>C p.A555P Missense 4/10 - 1
2-48026789-A-T c.1667A>T p.Y556F Missense 4/10 - 1
2-48026790-T-C c.1668T>C p.Y556= Synonymous 4/10 - 1
2-48026792-G-C c.1670G>C p.G557A Missense 4/10 - 1
2-48026799-C-T c.1677C>T p.C559= Synonymous 4/10 - 1
2-48026803-GTT-ATG c.1681_1683delinsATG p.V561M Missense 4/10 - 1
2-48026804-T-C c.1682T>C p.V561A Missense 4/10 - 1
2-48026810-C-A c.1688C>A p.T563N Missense 4/10 - 1
2-48026813-C-A c.1691C>A p.S564* Nonsense 4/10 - 1
2-48026813-C-G c.1691C>G p.S564* Nonsense 4/10 - 1
2-48026818-G-A c.1696G>A p.G566R Missense 4/10 - 8
2-48026818-G-C c.1696G>C p.G566R Missense 4/10 - 7
2-48026821-A-G c.1699A>G p.K567E Missense 4/10 - 1
2-48026819-G-GA c.1700dup p.F568Vfs*9 Frameshift 4/10 - 1
2-48026825-T-C c.1703T>C p.F568S Missense 4/10 - 1
2-48026826-T-TG c.1704_1705insG p.F569Vfs*8 Frameshift 4/10 - 1
2-48026829-TC-T c.1707del p.F569Lfs*2 Frameshift 4/10 - 2
2-48026836-C-A c.1714C>A p.Q572K Missense 4/10 - 1
2-48026836-CA-GC c.1714_1715delinsGC p.Q572A Missense 4/10 - 1
2-48026836-C-T c.1714C>T p.Q572* Nonsense 4/10 - 1
2-48026838-G-T c.1716G>T p.Q572H Missense 4/10 - 1
2-48026839-T-C c.1717T>C p.F573L Missense 4/10 - 1
2-48026841-T-A c.1719T>A p.F573L Missense 4/10 - 1
2-48026841-T-G c.1719T>G p.F573L Missense 4/10 - 1
2-48026842-TC-GG c.1720_1721delinsGG p.S574G Missense 4/10 - 1
2-48026843-C-G c.1721C>G p.S574* Nonsense 4/10 - 1
2-48026845-G-T c.1723G>T p.D575Y Missense 4/10 - 1
2-48026846-A-C c.1724A>C p.D575A Missense 4/10 - 1
2-48026851-C-T c.1729C>T p.R577C Missense 4/10 - 6
2-48026852-G-A c.1730G>A p.R577H Missense 4/10 - 8
2-48026853-C-G c.1731C>G p.R577= Synonymous 4/10 - 1
2-48026854-C-A c.1732C>A p.H578N Missense 4/10 - 1
2-48026861-C-T c.1739C>T p.S580L Missense 4/10 - 3
2-48026863-A-AG c.1742dup p.F582Ifs*2 Frameshift 4/10 - 1
2-48026876-T-C c.1754T>C p.L585P Missense 4/10 - 6
2-48026878-G-C c.1756G>C p.V586L Missense 4/10 - 1
2-48026881-G-C c.1759G>C p.A587P Missense 4/10 - 2
2-48026886-C-T c.1764C>T p.H588= Synonymous 4/10 - 1
2-48026888-A-G c.1766A>G p.Y589C Missense 4/10 - 1
2-48026890-C-T c.1768C>T p.P590S Missense 4/10 - 1
2-48026892-C-G c.1770C>G p.P590= Synonymous 4/10 - 1
2-48026896-G-A c.1774G>A p.V592I Missense 4/10 - 1
2-48026898-A-G c.1776A>G p.V592= Synonymous 4/10 - 1
2-48026901-A-C c.1779A>C p.Q593H Missense 4/10 - 1
2-48026901-A-G c.1779A>G p.Q593= Synonymous 4/10 - 1
2-48026902-GT-G c.1784del p.L595Yfs*15 Frameshift 4/10 - 7
2-48026908-ATTT-A c.1786_1788del p.F596del InFrameDeletion 4/10 - 1
2-48026908-TT-GC c.1786_1787delinsGC p.F596A Missense 4/10 - 1
2-48026909-T-C c.1787T>C p.F596S Missense 4/10 - 1
2-48026914-AA-GC c.1792_1793delinsGC p.K598A Missense 4/10 - 1
2-48026915-A-G c.1793A>G p.K598R Missense 4/10 - 1
2-48026921-A-T c.1799A>T p.N600I Missense 4/10 - 1
2-48026923-C-G c.1801C>G p.L601V Missense 4/10 - 2
2-48026924-T-A c.1802T>A p.L601H Missense 4/10 - 1
2-48026925-C-T c.1803C>T p.L601= Synonymous 4/10 - 1
2-48026921-ATC-A c.1804_1805del p.S602Kfs*4 Frameshift 4/10 - 2
2-48026926-T-TA c.1804_1805insA p.S602Yfs*5 Frameshift 4/10 - 1
2-48026927-C-A c.1805C>A p.S602* Nonsense 4/10 - 1
2-48026927-C-G c.1805C>G p.S602* Nonsense 4/10 - 2
2-48026928-CAAAG-C c.1806_1809del p.E604Lfs*5 Frameshift 4/10 - 1
2-48026929-AA-GC c.1807_1808delinsGC p.K603A Missense 4/10 - 1
2-48026930-A-G c.1808A>G p.K603R Missense 4/10 - 1
2-48026932-G-GA c.1813dup p.T605Nfs*2 Frameshift 4/10 - 1
2-48026937-CTA-C c.1815_1816del p.K606Nfs*33 Frameshift 4/10 - 1
2-48026938-A-G c.1816A>G p.K606E Missense 4/10 - 1
2-48026944-A-G c.1822A>G p.I608V Missense 4/10 - 1
2-48026947-C-A c.1825C>A p.L609I Missense 4/10 - 1
2-48026947-C-T c.1825C>T p.L609= Synonymous 4/10 - 1
2-48026950-A-G c.1828A>G p.K610E Missense 4/10 - 2
2-48026951-A-T c.1829A>T p.K610M Missense 4/10 - 1
2-48026952-G-GA c.1831dup p.S611Kfs*29 Frameshift 4/10 - 1
2-48026957-C-A c.1835C>A p.S612* Nonsense 4/10 - 1
2-48026957-C-G c.1835C>G p.S612* Nonsense 4/10 - 1
2-48026957-C-T c.1835C>T p.S612L Missense 4/10 - 1
2-48026962-TC-T c.1842del p.C615Vfs*7 Frameshift 4/10 - 1
2-48026968-T-G c.1846T>G p.S616A Missense 4/10 - 1
2-48026974-C-T c.1852C>T p.Q618* Nonsense 4/10 - 1
2-48026975-CA-C c.1853del p.Q618Rfs*4 Frameshift 4/10 - 1
2-48026979-A-C c.1857A>C p.E619D Missense 4/10 - 2
2-48026983-C-T c.1861C>T p.L621= Synonymous 4/10 - 1
2-48026989-C-A c.1867C>A p.P623T Missense 4/10 - 2
2-48026989-C-G c.1867C>G p.P623A Missense 4/10 - 3
2-48026990-C-T c.1868C>T p.P623L Missense 4/10 - 2
2-48026991-C-T c.1869C>T p.P623= Synonymous 4/10 - 1
2-48026992-G-A c.1870G>A p.G624S Missense 4/10 - 1
2-48026998-CA-GC c.1876_1877delinsGC p.Q626A Missense 4/10 - 1
2-48027000-GT-G c.1882del p.W628Gfs*7 Frameshift 4/10 - 1
2-48027005-G-A c.1883G>A p.W628* Nonsense 4/10 - 1
2-48027004-TG-T c.1885del p.D629Mfs*6 Frameshift 4/10 - 1
2-48027009-T-A c.1887T>A p.D629E Missense 4/10 - 1
2-48027009-T-G c.1887T>G p.D629E Missense 4/10 - 1
2-48027011-CA-AC c.1889_1890delinsAC p.A630D Missense 4/10 - 1
2-48027014-C-G c.1892C>G p.S631C Missense 4/10 - 1
2-48027017-A-G c.1895A>G p.K632R Missense 4/10 - 1
2-48027018-A-G c.1896A>G p.K632= Synonymous 4/10 - 1
2-48027015-CA-C c.1897del p.T633Lfs*2 Frameshift 4/10 - 1
2-48027020-C-T c.1898C>T p.T633I Missense 4/10 - 1
2-48027020-CTT-C c.1900_1901del p.L634Efs*5 Frameshift 4/10 - 2
2-48027024-G-GT c.1902_1903insT p.R635* Nonsense 4/10 - 1
2-48027028-A-T c.1906A>T p.T636S Missense 4/10 - 1
2-48027029-C-G c.1907C>G p.T636S Missense 4/10 - 1
2-48027034-CCTT-C c.1912_1914del p.L638del InFrameDeletion 4/10 - 1
2-48027034-CT-C c.1914del p.E639Rfs*9 Frameshift 4/10 - 1
2-48027036-T-G c.1914T>G p.L638= Synonymous 4/10 - 1
2-48027038-A-G c.1916A>G p.E639G Missense 4/10 - 1
2-48027039-G-A c.1917G>A p.E639= Synonymous 4/10 - 1
2-48027039-GGAA-G c.1921_1923del p.E641del InFrameDeletion 4/10 - 1
2-48027043-G-A c.1921G>A p.E641K Missense 4/10 - 1
2-48027043-G-T c.1921G>T p.E641* Nonsense 4/10 - 1
2-48027045-A-C c.1923A>C p.E641D Missense 4/10 - 1
2-48027045-A-T c.1923A>T p.E641D Missense 4/10 - 1
2-48027047-A-G c.1925A>G p.Y642C Missense 4/10 - 1
2-48027048-T-A c.1926T>A p.Y642* Nonsense 4/10 - 1
2-48027048-T-G c.1926T>G p.Y642* Nonsense 4/10 - 1
2-48027054-G-A c.1932G>A p.R644= Synonymous 4/10 - 1
2-48027054-G-C c.1932G>C p.R644S Missense 4/10 - 3
2-48027054-G-GT c.1932_1933insT p.E645* Nonsense 4/10 - 1
2-48027054-G-T c.1932G>T p.R644S Missense 4/10 - 1
2-48027055-G-T c.1933G>T p.E645* Nonsense 4/10 - 1
2-48027057-A-C c.1935A>C p.E645D Missense 4/10 - 1
2-48027059-A-G c.1937A>G p.K646R Missense 4/10 - 2
2-48027065-AG-A c.1943del p.S648Mfs*6 Frameshift 4/10 - 2
2-48027071-G-A c.1949G>A p.G650D Missense 4/10 - 1
2-48027073-CATTG-C c.1951_1954del p.I651Gfs*2 Frameshift 4/10 - 1
2-48027077-G-C c.1955G>C p.G652A Missense 4/10 - 1
2-48027071-GCATTGGGGTGATGTTACCCCAGGTGCTTAAAGGTATGACTTCAGAGTCTGATTC-G c.1957_2010del p.V653_G670del InFrameDeletion 4/10 - 1
2-48027082-A-C c.1960A>C p.M654L Missense 4/10 - 1
2-48027082-A-T c.1960A>T p.M654L Missense 4/10 - 1
2-48027089-C-T c.1967C>T p.P656L Missense 4/10 - 2
2-48027090-C-G c.1968C>G p.P656= Synonymous 4/10 - 3
2-48027087-AC-A c.1969del p.Q657Rfs*6 Frameshift 4/10 - 1
2-48027092-CA-C c.1970del p.Q657Rfs*6 Frameshift 4/10 - 1
2-48027095-T-A c.1973T>A p.V658E Missense 4/10 - 1
2-48027115-G-A c.1993G>A p.E665K Missense 4/10 - 1
2-48027118-T-C c.1996T>C p.S666P Missense 4/10 - 2
2-48027121-G-A c.1999G>A p.D667N Missense 4/10 - 1
2-48027121-G-T c.1999G>T p.D667Y Missense 4/10 - 1
2-48027123-T-A c.2001T>A p.D667E Missense 4/10 - 1
2-48027123-T-C c.2001T>C p.D667= Synonymous 4/10 - 1
2-48027123-T-G c.2001T>G p.D667E Missense 4/10 - 1
2-48027128-T-C c.2006T>C p.I669T Missense 4/10 - 1
2-48027130-G-A c.2008G>A p.G670R Missense 4/10 - 2
2-48027130-G-C c.2008G>C p.G670R Missense 4/10 - 2
2-48027130-TGGG-T c.2008_2010del p.G670del InFrameDeletion 4/10 - 1
2-48027131-G-A c.2009G>A p.G670E Missense 4/10 - 1
2-48027139-C-A c.2017C>A p.P673T Missense 4/10 - 1
2-48027140-C-T c.2018C>T p.P673L Missense 4/10 - 1
2-48027143-G-C c.2021G>C p.G674A Missense 4/10 - 4
2-48027150-A-T c.2028A>T p.K676N Missense 4/10 - 1
2-48027152-G-A c.2030G>A p.S677N Missense 4/10 - 2
2-48027152-G-C c.2030G>C p.S677T Missense 4/10 - 2
2-48027154-G-A c.2032G>A p.E678K Missense 4/10 - 1
2-48027160-G-GTCACTGCATCT c.2038_2039insTCACTGCATCT p.A680Vfs*9 Frameshift 4/10 - 1
2-48027160-G-T c.2038G>T p.A680S Missense 4/10 - 1
2-48027162-C-T c.2040C>T p.A680= Synonymous 4/10 - 1
2-48027163-C-T c.2041C>T p.L681F Missense 4/10 - 1
2-48027168-T-TGGCTTTGGTG c.2047_2048insGCTTTGGTGG p.A683Gfs*18 Frameshift 4/10 - 1
2-48027170-C-CTAG c.2049_2050insAGT p.A683_L684insS InFrameInsertion 4/10 - 1
2-48027172-C-CT c.2051dup p.G685Rfs*13 Frameshift 4/10 - 1
2-48027175-G-A c.2053G>A p.G685S Missense 4/10 - 1
2-48027176-G-C c.2054G>C p.G685A Missense 4/10 - 1
2-48027179-G-A c.2057G>A p.G686D Missense 4/10 - 7
2-48027182-G-A c.2060G>A p.C687Y Missense 4/10 - 2
2-48027183-T-A c.2061T>A p.C687* Nonsense 4/10 - 2
2-48027183-T-G c.2061T>G p.C687W Missense 4/10 - 1
2-48027189-C-G c.2067C>G p.F689L Missense 4/10 - 1
2-48027192-C-T c.2070C>T p.Y690= Synonymous 4/10 - 1
2-48027193-C-T c.2071C>T p.L691F Missense 4/10 - 1
2-48027198-A-C c.2076A>C p.K692N Missense 4/10 - 1
2-48027195-CA-C c.2079del p.K693Nfs*43 Frameshift 4/10 - 1
2-48027195-C-CA c.2079dup p.C694Mfs*4 Frameshift 4/10 - 3
2-48027202-T-C c.2080T>C p.C694R Missense 4/10 - 1
2-48027204-C-A c.2082C>A p.C694* Nonsense 4/10 - 1
2-48027205-C-T c.2083C>T p.L695F Missense 4/10 - 1
2-48027209-T-C c.2087T>C p.I696T Missense 4/10 - 1
2-48027214-C-G c.2092C>G p.Q698E Missense 4/10 - 2
2-48027217-G-A c.2095G>A p.E699K Missense 4/10 - 1
2-48027217-G-T c.2095G>T p.E699* Nonsense 4/10 - 1
2-48027218-A-C c.2096A>C p.E699A Missense 4/10 - 1
2-48027223-T-G c.2101T>G p.L701V Missense 4/10 - 1
2-48027223-TTA-CAT c.2101_2103delinsCAT p.L701H Missense 4/10 - 1
2-48027225-A-C c.2103A>C p.L701F Missense 4/10 - 1
2-48027229-A-G c.2107A>G p.M703V Missense 4/10 - 1
2-48027232-G-C c.2110G>C p.A704P Missense 4/10 - 1
2-48027234-TA-T c.2114del p.N705Ifs*31 Frameshift 4/10 - 1
2-48027236-A-C c.2114A>C p.N705T Missense 4/10 - 1
2-48027239-T-C c.2117T>C p.F706S Missense 4/10 - 4
2-48027241-G-A c.2119G>A p.E707K Missense 4/10 - 6
2-48027242-A-C c.2120A>C p.E707A Missense 4/10 - 1
2-48027250-A-G c.2128A>G p.I710V Missense 4/10 - 1
2-48027257-TG-T c.2137del p.D713Ifs*23 Frameshift 4/10 - 1
2-48027260-A-T c.2138A>T p.D713V Missense 4/10 - 1
2-48027263-C-G c.2141C>G p.S714C Missense 4/10 - 1
2-48027263-C-T c.2141C>T p.S714F Missense 4/10 - 1
2-48027265-GAC-G c.2147_2148del p.T716Sfs*39 Frameshift 4/10 - 1
2-48027268-ACAGT-A c.2150_2153del p.V717Afs*18 Frameshift 4/10 - 7
2-48027276-C-T c.2154C>T p.S718= Synonymous 4/10 - 1
2-48027278-C-T c.2156C>T p.T719I Missense 4/10 - 1
2-48027281-C-G c.2159C>G p.T720R Missense 4/10 - 1
2-48027283-A-G c.2161A>G p.R721G Missense 4/10 - 3
2-48027291-T-G c.2169T>G p.G723= Synonymous 4/10 - 1
2-48027295-A-C c.2173A>C p.I725L Missense 4/10 - 1
2-48027295-A-G c.2173A>G p.I725V Missense 4/10 - 1
2-48027297-C-G c.2175C>G p.I725M Missense 4/10 - 1
2-48027298-T-C c.2176T>C p.F726L Missense 4/10 - 1
2-48027300-C-A c.2178C>A p.F726L Missense 4/10 - 1
2-48027300-C-G c.2178C>G p.F726L Missense 4/10 - 1
2-48027299-T-A c.2177T>A p.F726Y Missense 4/10 - 2
2-48027299-T-C c.2177T>C p.F726S Missense 4/10 - 1
2-48027301-A-T c.2179A>T p.T727S Missense 4/10 - 1
2-48027302-C-G c.2180C>G p.T727S Missense 4/10 - 1
2-48027305-A-C c.2183A>C p.K728T Missense 4/10 - 3
2-48027309-C-T c.2187C>T p.A729= Synonymous 4/10 - 1
2-48027311-A-T c.2189A>T p.Y730F Missense 4/10 - 1
2-48027313-C-T c.2191C>T p.Q731* Nonsense 4/10 - 1
2-48027314-A-C c.2192A>C p.Q731P Missense 4/10 - 1
2-48027315-A-G c.2193A>G p.Q731= Synonymous 4/10 - 1
2-48027316-CGA-TGG c.2194_2196delinsTGG p.R732W Missense 4/10 - 1
2-48027316-C-T c.2194C>T p.R732* Nonsense 4/10 - 5
2-48027317-G-A c.2195G>A p.R732Q Missense 4/10 - 2
2-48027317-G-T c.2195G>T p.R732L Missense 4/10 - 1
2-48027323-T-A c.2201T>A p.V734E Missense 4/10 - 1
2-48027325-C-A c.2203C>A p.L735I Missense 4/10 - 1
2-48027328-G-C c.2206G>C p.D736H Missense 4/10 - 2
2-48027334-GTGACATTAAACAACT-G c.2215_2229del p.T739_L743del InFrameDeletion 4/10 - 1
2-48027338-C-A c.2216C>A p.T739K Missense 4/10 - 1
2-48027341-T-A c.2219T>A p.L740* Nonsense 4/10 - 1
2-48027341-T-G c.2219T>G p.L740* Nonsense 4/10 - 1
2-48027347-A-G c.2225A>G p.N742S Missense 4/10 - 1
2-48027348-C-A c.2226C>A p.N742K Missense 4/10 - 1
2-48027348-C-G c.2226C>G p.N742K Missense 4/10 - 1
2-48027351-G-GT c.2229_2230insT p.E744* Nonsense 4/10 - 1
2-48027350-T-TG c.2230dup p.E744Gfs*12 Frameshift 4/10 - 2
2-48027355-A-AT c.2238dup p.L747Sfs*9 Frameshift 4/10 - 1
2-48027361-C-G c.2239C>G p.L747V Missense 4/10 - 1
2-48027361-C-T c.2239C>T p.L747= Synonymous 4/10 - 2
2-48027361-TC-T c.2239del p.L747* Frameshift 4/10 - 1
2-48027367-G-A c.2245G>A p.G749R Missense 4/10 - 1
2-48027367-GGA-AGC c.2245_2247delinsAGC p.G749S Missense 4/10 - 1
2-48027368-G-C c.2246G>C p.G749A Missense 4/10 - 1
2-48027371-C-A c.2249C>A p.T750K Missense 4/10 - 1
2-48027375-T-C c.2253T>C p.N751= Synonymous 4/10 - 2
2-48027385-G-A c.2263G>A p.E755K Missense 4/10 - 1
2-48027391-AAC-A c.2269_2270del p.T757Pfs*6 Frameshift 4/10 - 1
2-48027392-C-T c.2270C>T p.T757I Missense 4/10 - 1
2-48027394-C-T c.2272C>T p.L758= Synonymous 4/10 - 2
2-48027397-CT-GC c.2275_2276delinsGC p.L759A Missense 4/10 - 1
2-48027397-CTAGAGAGGGTTGATACT-C c.2277_2293del p.E760Pfs*6 Frameshift 4/10 - 1
2-48027405-G-A c.2283G>A p.R761= Synonymous 4/10 - 1
2-48027406-G-A c.2284G>A p.V762I Missense 4/10 - 1
2-48027409-G-T c.2287G>T p.D763Y Missense 4/10 - 1
2-48027413-C-A c.2291C>A p.T764N Missense 4/10 - 2
2-48027413-C-T c.2291C>T p.T764I Missense 4/10 - 1
2-48027415-T-TG c.2294dup p.C765Wfs*7 Frameshift 4/10 - 1
2-48027416-G-A c.2294G>A p.C765Y Missense 4/10 - 1
2-48027417-C-A c.2295C>A p.C765* Nonsense 4/10 - 1
2-48027417-C-T c.2295C>T p.C765= Synonymous 4/10 - 1
2-48027419-CA-C c.2297del p.H766Lfs*9 Frameshift 4/10 - 1
2-48027422-C-G c.2300C>G p.T767S Missense 4/10 - 3
2-48027422-C-T c.2300C>T p.T767I Missense 4/10 - 5
2-48027421-ACTC-A c.2302_2304del p.P768del InFrameDeletion 4/10 - 3
2-48027424-C-G c.2302C>G p.P768A Missense 4/10 - 1
2-48027424-C-T c.2302C>T p.P768S Missense 4/10 - 1
2-48027430-G-C c.2308G>C p.G770R Missense 4/10 - 1
2-48027436-C-T c.2314C>T p.R772W Missense 4/10 - 10
2-48027437-G-A c.2315G>A p.R772Q Missense 4/10 - 1
2-48027441-C-A c.2319C>A p.L773= Synonymous 4/10 - 2
2-48027441-C-T c.2319C>T p.L773= Synonymous 4/10 - 2
2-48027442-C-T c.2320C>T p.L774= Synonymous 4/10 - 1
2-48027443-TA-T c.2324del p.K775Sfs*18 Frameshift 4/10 - 1
2-48027448-C-T c.2326C>T p.Q776* Nonsense 4/10 - 1
2-48027451-TG-T c.2331del p.W777Cfs*16 Frameshift 4/10 - 1
2-48027454-C-T c.2332C>T p.L778F Missense 4/10 - 1
2-48027454-GCT-G c.2332_2333del p.A780Pfs*4 Frameshift 4/10 - 1
2-48027455-T-C c.2333T>C p.L778P Missense 4/10 - 1
2-48027460-G-T c.2338G>T p.A780S Missense 4/10 - 1
2-48027461-C-T c.2339C>T p.A780V Missense 4/10 - 1
2-48027463-C-T c.2341C>T p.P781S Missense 4/10 - 3
2-48027460-G-GC c.2342dup p.L782Tfs*3 Frameshift 4/10 - 1
2-48027467-T-C c.2345T>C p.L782P Missense 4/10 - 1
2-48027469-T-A c.2347T>A p.C783S Missense 4/10 - 2
2-48027468-CTG-C c.2348_2349del p.C783* Frameshift 4/10 - 1
2-48027475-C-G c.2353C>G p.H785D Missense 4/10 - 1
2-48027475-C-T c.2353C>T p.H785Y Missense 4/10 - 1
2-48027484-A-G c.2362A>G p.I788V Missense 4/10 - 1
2-48027491-GA-G c.2369del p.D790Vfs*3 Frameshift 4/10 - 1
2-48027496-C-T c.2374C>T p.L792= Synonymous 4/10 - 1
2-48027497-TAGATGCCATAG-T c.2377_2387del p.D793Rfs*7 Frameshift 4/10 - 1
2-48027501-ATG-A c.2379_2380del p.A794Hfs*9 Frameshift 4/10 - 2
2-48027503-C-T c.2381C>T p.A794V Missense 4/10 - 1
2-48027506-T-C c.2384T>C p.I795T Missense 4/10 - 3
2-48027513-C-T c.2391C>T p.D797= Synonymous 4/10 - 1
2-48027517-A-C c.2395A>C p.M799L Missense 4/10 - 1
2-48027520-G-A c.2398G>A p.V800I Missense 4/10 - 1
2-48027520-G-C c.2398G>C p.V800L Missense 4/10 - 4
2-48027521-T-C c.2399T>C p.V800A Missense 4/10 - 1
2-48027520-G-GT c.2400dup p.V801Cfs*3 Frameshift 4/10 - 1
2-48027527-C-G c.2405C>G p.P802R Missense 4/10 - 1
2-48027529-G-C c.2407G>C p.D803H Missense 4/10 - 1
2-48027530-A-G c.2408A>G p.D803G Missense 4/10 - 6
2-48027533-A-C c.2411A>C p.K804T Missense 4/10 - 2
2-48027539-C-G c.2417C>G p.S806C Missense 4/10 - 1
2-48027539-C-T c.2417C>T p.S806F Missense 4/10 - 1
2-48027540-C-T c.2418C>T p.S806= Synonymous 4/10 - 1
2-48027541-G-A c.2419G>A p.E807K Missense 4/10 - 3
2-48027542-A-G c.2420A>G p.E807G Missense 4/10 - 1
2-48027547-G-A c.2425G>A p.V809I Missense 4/10 - 1
2-48027547-GT-TA c.2425_2426delinsTA p.V809* Nonsense 4/10 - 2
2-48027547-TG-T c.2425del p.V809* Frameshift 4/10 - 1
2-48027546-TGTA-T c.2426_2428del p.V809del InFrameDeletion 4/10 - 4
2-48027549-A-C c.2427A>C p.V809= Synonymous 4/10 - 1
2-48027550-G-GTCACTGCATCT c.2428_2429insTCACTGCATCT p.E810Vfs*7 Frameshift 4/10 - 1
2-48027554-TTCTAAAGAAGCTT-ACCATTCGTTGATAGGCTTTGGTGAAGATAGCA c.2432_2445delinsACCATTCGTTGATAGGCTTTGGTGAAGATAGCA p.L811Hfs*15 Frameshift 4/10 - 1
2-48027558-A-AGGCTTTGGTG c.2436_2437insGGCTTTGGTG p.K813Gfs*10 Frameshift 4/10 - 1
2-48027562-A-AT c.2440_2441insT p.K814Ifs*6 Frameshift 4/10 - 1
2-48027562-A-G c.2440A>G p.K814E Missense 4/10 - 1
2-48027565-C-T c.2443C>T p.L815F Missense 4/10 - 1
2-48027565-CT-C c.2445del p.P816Qfs*17 Frameshift 4/10 - 1
2-48027577-G-A c.2455G>A p.E819K Missense 4/10 - 1
2-48027590-G-A c.2468G>A p.S823N Missense 4/10 - 1
2-48027592-A-G c.2470A>G p.K824E Missense 4/10 - 1
2-48027596-T-A c.2474T>A p.I825N Missense 4/10 - 1
2-48027598-C-T c.2476C>T p.H826Y Missense 4/10 - 1
2-48027609-G-GT c.2488dup p.S830Ffs*17 Frameshift 4/10 - 1
2-48027614-C-G c.2492C>G p.P831R Missense 4/10 - 1
2-48027617-T-A c.2495T>A p.L832Q Missense 4/10 - 1
2-48027625-C-G c.2503C>G p.Q835E Missense 4/10 - 3
2-48027625-C-T c.2503C>T p.Q835* Nonsense 4/10 - 2
2-48027632-CA-C c.2510del p.H837Pfs*7 Frameshift 4/10 - 1
2-48027640-A-G c.2518A>G p.S840G Missense 4/10 - 1
2-48027644-G-A c.2522G>A p.R841K Missense 4/10 - 1
2-48027646-G-GAA c.2524_2525insAA p.A842Efs*3 Frameshift 4/10 - 1
2-48027648-T-G c.2526T>G p.A842= Synonymous 4/10 - 1
2-48027650-TA-GC c.2528_2529delinsGC p.I843S Missense 4/10 - 1
2-48027651-A-C c.2529A>C p.I843= Synonymous 4/10 - 1
2-48027655-T-C c.2533T>C p.Y845H Missense 4/10 - 1
2-48027656-TATGAA-T c.2534_2538del p.Y845* Frameshift 4/10 - 1
2-48027656-A-AT c.2535dup p.E846* Nonsense 4/10 - 1
2-48027661-AG-A c.2539del p.E847Kfs*21 Frameshift 4/10 - 1
2-48027661-G-T c.2539G>T p.E847* Nonsense 4/10 - 2
2-48027662-A-T c.2540A>T p.E847V Missense 4/10 - 1
2-48027671-A-G c.2549A>G p.Y850C Missense 4/10 - 1
2-48027672-AC-A c.2550del p.Y850* Frameshift 4/10 - 1
2-48027672-C-A c.2550C>A p.Y850* Nonsense 4/10 - 1
2-48027672-C-G c.2550C>G p.Y850* Nonsense 4/10 - 1
2-48027676-CAA-C c.2554_2555del p.K852Efs*5 Frameshift 4/10 - 1
2-48027681-G-A c.2559G>A p.K853= Synonymous 4/10 - 1
2-48027675-CAAG-C c.2561_2563del p.K854del InFrameDeletion 4/10 - 2
2-48027683-A-G c.2561A>G p.K854R Missense 4/10 - 1
2-48027683-A-T c.2561A>T p.K854M Missense 4/10 - 10
2-48027684-G-T c.2562G>T p.K854N Missense 4/10 - 1
2-48027707-T-C c.2585T>C p.L862P Missense 4/10 - 1
2-48027710-A-G c.2588A>G p.E863G Missense 4/10 - 1
2-48027713-G-A c.2591G>A p.G864E Missense 4/10 - 1
2-48027716-T-G c.2594T>G p.F865C Missense 4/10 - 1
2-48027717-CAAAGT-C c.2598_2602del p.K866Nfs*3 Frameshift 4/10 - 1
2-48027721-G-A c.2599G>A p.V867I Missense 4/10 - 1
2-48027722-T-G c.2600T>G p.V867G Missense 4/10 - 1
2-48027726-TG-T c.2604del p.M868Ifs*5 Frameshift 4/10 - 1
2-48027728-G-A c.2606G>A p.C869Y Missense 4/10 - 1
2-48027729-TA-T c.2611del p.I871Lfs*2 Frameshift 4/10 - 1
2-48027729-T-TA c.2611dup p.I871Nfs*10 Frameshift 4/10 - 1
2-48027747-G-A c.2625G>A p.M875I Missense 4/10 - 1
2-48027747-G-C c.2625G>C p.M875I Missense 4/10 - 1
2-48027747-G-T c.2625G>T p.M875I Missense 4/10 - 1
2-48027751-G-T c.2629G>T p.E877* Nonsense 4/10 - 3
2-48027755-T-C c.2633T>C p.V878A Missense 4/10 - 27
2-48027755-T-G c.2633T>G p.V878G Missense 4/10 - 6
2-48027763-GGT-AAG c.2641_2643delinsAAG p.G881K Missense 4/10 - 1
2-48027775-A-T c.2653A>T p.K885* Nonsense 4/10 - 2
2-48027777-A-C c.2655A>C p.K885N Missense 4/10 - 1
2-48027777-A-G c.2655A>G p.K885= Synonymous 4/10 - 1
2-48027777-A-T c.2655A>T p.K885N Missense 4/10 - 1
2-48027778-A-G c.2656A>G p.I886V Missense 4/10 - 1
2-48027779-TC-T c.2659del p.K888Sfs*18 Frameshift 4/10 - 1
2-48027786-G-C c.2664G>C p.K888N Missense 4/10 - 1
2-48027786-G-GC c.2665dup p.Q889Pfs*11 Frameshift 4/10 - 1
2-48027791-T-A c.2669T>A p.V890D Missense 4/10 - 1
2-48027792-C-T c.2670C>T p.V890= Synonymous 4/10 - 1
2-48027794-AT-A c.2672del p.I891Tfs*15 Frameshift 4/10 - 2
2-48027795-C-A c.2673C>A p.I891= Synonymous 4/10 - 1
2-48027795-C-G c.2673C>G p.I891M Missense 4/10 - 1
2-48027793-ATC-A c.2677_2678del p.L893Afs*6 Frameshift 4/10 - 2
2-48027803-A-T c.2681A>T p.Q894L Missense 4/10 - 1
2-48027804-G-A c.2682G>A p.Q894= Synonymous 4/10 - 1
2-48027809-A-T c.2687A>T p.K896I Missense 4/10 - 1
2-48027806-CA-C c.2690del p.N897Ifs*9 Frameshift 4/10 - 3
2-48027806-C-CA c.2690dup p.N897Kfs*3 Frameshift 4/10 - 1
2-48027812-A-G c.2690A>G p.N897S Missense 4/10 - 1
2-48027814-C-T c.2692C>T p.P898S Missense 4/10 - 1
2-48027815-C-A c.2693C>A p.P898H Missense 4/10 - 1
2-48027822-GTC-G c.2700_2701del p.R901Ffs*3 Frameshift 4/10 - 1
2-48027823-C-T c.2701C>T p.R901C Missense 4/10 - 1
2-48027824-G-A c.2702G>A p.R901H Missense 4/10 - 1
2-48027825-T-G c.2703T>G p.R901= Synonymous 4/10 - 1
2-48027834-T-A c.2712T>A p.D904E Missense 4/10 - 1
2-48027834-T-G c.2712T>G p.D904E Missense 4/10 - 1
2-48027839-CTG-C c.2719_2720del p.V907Rfs*10 Frameshift 4/10 - 2
2-48027841-G-A c.2719G>A p.V907I Missense 4/10 - 1
2-48027842-T-C c.2720T>C p.V907A Missense 4/10 - 1
2-48027844-G-T c.2722G>T p.E908* Nonsense 4/10 - 2
2-48027843-AGAATT-A c.2725_2729del p.L909Pfs*7 Frameshift 4/10 - 1
2-48027853-C-A c.2731C>A p.R911= Synonymous 4/10 - 1
2-48027853-C-T c.2731C>T p.R911* Nonsense 4/10 - 21
2-48027854-G-A c.2732G>A p.R911Q Missense 4/10 - 2
2-48027857-G-A c.2735G>A p.W912* Nonsense 4/10 - 1
2-48027874-C-T c.2752C>T p.H918Y Missense 4/10 - 2
2-48027877-GA-G c.2759del p.K920Rfs*25 Frameshift 4/10 - 1
2-48027883-G-A c.2761G>A p.A921T Missense 4/10 - 2
2-48027886-C-A c.2764C>A p.R922= Synonymous 4/10 - 1
2-48027886-C-T c.2764C>T p.R922* Nonsense 4/10 - 6
2-48027887-CG-C c.2765del p.R922Qfs*23 Frameshift 4/10 - 1
2-48027887-G-A c.2765G>A p.R922Q Missense 4/10 - 6
2-48027899-T-G c.2777T>G p.L926R Missense 4/10 - 1
2-48027902-T-C c.2780T>C p.I927T Missense 4/10 - 1
2-48027903-T-G c.2781T>G p.I927M Missense 4/10 - 1
2-48027917-G-A c.2795G>A p.G932D Missense 4/10 - 1
2-48027919-TT-AC c.2797_2798delinsAC p.F933T Missense 4/10 - 1
2-48027922-G-C c.2800G>C p.D934H Missense 4/10 - 1
2-48027925-T-A c.2803T>A p.S935T Missense 4/10 - 1
2-48027926-C-CT c.2805dup p.D936* Nonsense 4/10 - 1
2-48027927-CTG-C c.2805_2806del p.D936Lfs*2 Frameshift 4/10 - 2
2-48027937-C-T c.2815C>T p.Q939* Nonsense 4/10 - 6
2-48027939-A-C c.2817A>C p.Q939H Missense 4/10 - 1
2-48027952-A-G c.2830A>G p.I944V Missense 4/10 - 1
2-48027958-G-T c.2836G>T p.E946* Nonsense 4/10 - 2
2-48027961-A-C c.2839A>C p.N947H Missense 4/10 - 1
2-48027974-T-C c.2852T>C p.L951P Missense 4/10 - 1
2-48027976-C-T c.2854C>T p.L952= Synonymous 4/10 - 1
2-48027978-G-A c.2856G>A p.L952= Synonymous 4/10 - 1
2-48027978-G-T c.2856G>T p.L952= Synonymous 4/10 - 2
2-48027979-G-GC c.2857_2858insC p.E953Afs*13 Frameshift 4/10 - 1
2-48027981-A-C c.2859A>C p.E953D Missense 4/10 - 2
2-48027981-A-T c.2859A>T p.E953D Missense 4/10 - 1
2-48027995-CAG-C c.2873_2874del p.Q958Pfs*7 Frameshift 4/10 - 1
2-48027997-C-A c.2875C>A p.R959S Missense 4/10 - 1
2-48027997-C-T c.2875C>T p.R959C Missense 4/10 - 1
2-48027998-G-A c.2876G>A p.R959H Missense 4/10 - 4
2-48028003-AGA-TGT c.2881_2883delinsTGT p.R961C Missense 4/10 - 1
2-48028004-G-A c.2882G>A p.R961K Missense 4/10 - 1
2-48028004-G-T c.2882G>T p.R961I Missense 4/10 - 1
2-48028007-T-A c.2885T>A p.I962N Missense 4/10 - 1
2-48028013-G-A c.2891G>A p.C964Y Missense 4/10 - 1
2-48028013-G-T c.2891G>T p.C964F Missense 4/10 - 1
2-48028014-T-A c.2892T>A p.C964* Nonsense 4/10 - 1
2-48028015-AGG-CAT c.2893_2895delinsCAT p.R965H Missense 4/10 - 1
2-48028015-AGG-TGT c.2893_2895delinsTGT p.R965C Missense 4/10 - 1
2-48028016-G-A c.2894G>A p.R965K Missense 4/10 - 1
2-48028021-AT-GC c.2899_2900delinsGC p.I967A Missense 4/10 - 1
2-48028023-A-G c.2901A>G p.I967M Missense 4/10 - 1
2-48028026-C-T c.2904C>T p.V968= Synonymous 4/10 - 1
2-48028026-CTA-C c.2906_2907del p.Y969Lfs*5 Frameshift 4/10 - 1
2-48028028-A-G c.2906A>G p.Y969C Missense 4/10 - 4
2-48028032-G-A c.2910G>A p.W970* Nonsense 4/10 - 5
2-48028034-G-A c.2912G>A p.G971E Missense 4/10 - 3
2-48028036-A-AT c.2916dup p.G973Wfs*2 Frameshift 4/10 - 2
2-48028047-C-G c.2925C>G p.N975K Missense 4/10 - 1
2-48028048-C-G c.2926C>G p.R976G Missense 4/10 - 1
2-48028048-C-T c.2926C>T p.R976C Missense 4/10 - 2
2-48028049-G-A c.2927G>A p.R976H Missense 4/10 - 4
2-48028053-C-G c.2931C>G p.Y977* Nonsense 4/10 - 1
2-48028054-C-T c.2932C>T p.Q978* Nonsense 4/10 - 3
2-48028058-T-C c.2936T>C p.L979P Missense 4/10 - 1
2-48028063-A-C c.2941A>C p.I981L Missense 4/10 - 1
2-48028063-A-G c.2941A>G p.I981V Missense 4/10 - 2
2-48028065-T-G c.2943T>G p.I981M Missense 4/10 - 1
2-48028065-TC-T c.2945del p.P982Lfs*15 Frameshift 4/10 - 3
2-48028067-C-T c.2945C>T p.P982L Missense 4/10 - 1
2-48028069-G-C c.2947G>C p.E983Q Missense 4/10 - 3
2-48028073-A-G c.2951A>G p.N984S Missense 4/10 - 1
2-48028078-A-C c.2956A>C p.T986P Missense 4/10 - 1
2-48028078-AC-GG c.2956_2957delinsGG p.T986G Missense 4/10 - 1
2-48028079-C-A c.2957C>A p.T986N Missense 4/10 - 1
2-48028080-C-CA c.2959dup p.T987Nfs*18 Frameshift 4/10 - 1
2-48028084-C-T c.2962C>T p.R988C Missense 4/10 - 5
2-48028085-G-T c.2963G>T p.R988L Missense 4/10 - 1
2-48028088-A-G c.2966A>G p.N989S Missense 4/10 - 1
2-48028091-T-A c.2969T>A p.L990* Nonsense 4/10 - 1
2-48028094-C-T c.2972C>T p.P991L Missense 4/10 - 2
2-48028096-G-T c.2974G>T p.E992* Nonsense 4/10 - 1
2-48028096-GA-G c.2976del p.E993Nfs*4 Frameshift 4/10 - 1
2-48028101-A-G c.2979A>G p.E993= Synonymous 4/10 - 1
2-48028102-T-A c.2980T>A p.Y994N Missense 4/10 - 3
2-48028104-C-G c.2982C>G p.Y994* Nonsense 4/10 - 2
2-48028104-C-T c.2982C>T p.Y994= Synonymous 4/10 - 1
2-48028105-G-A c.2983G>A p.E995K Missense 4/10 - 2
2-48028105-G-T c.2983G>T p.E995* Nonsense 4/10 - 2
2-48028114-T-A c.2992T>A p.S998T Missense 4/10 - 1
2-48028115-C-T c.2993C>T p.S998F Missense 4/10 - 1
2-48028135-C-T c.3013C>T p.R1005* Nonsense 4/10 - 9
2-48028138-T-G c.3016T>G p.Y1006D Missense 4/10 - 1
2-48028139-A-C c.3017A>C p.Y1006S Missense 4/10 - 1
2-48028145-C-T c.3023C>T p.T1008I Missense 4/10 - 2
2-48028146-C-CT c.3024_3025insT p.K1009* Nonsense 4/10 - 1
2-48028146-CAAA-C c.3026_3028del p.K1009del InFrameDeletion 4/10 - 1
2-48028148-A-T c.3026A>T p.K1009I Missense 4/10 - 1
2-48028151-C-G c.3029C>G p.T1010S Missense 4/10 - 1
2-48028151-C-T c.3029C>T p.T1010I Missense 4/10 - 2
2-48028160-A-C c.3038A>C p.K1013T Missense 4/10 - 1
2-48028161-G-C c.3039G>C p.K1013N Missense 4/10 - 1
2-48028161-G-T c.3039G>T p.K1013N Missense 4/10 - 1
2-48028158-AAAG-A c.3040_3042del p.K1014del InFrameDeletion 4/10 - 1
2-48028163-A-AGTT c.3043_3045dup p.L1015dup InFrameInsertion 4/10 - 1
2-48028171-A-G c.3049A>G p.N1017D Missense 4/10 - 1
2-48028172-A-G c.3050A>G p.N1017S Missense 4/10 - 1
2-48028177-A-C c.3055A>C p.I1019L Missense 4/10 - 1
2-48028177-A-T c.3055A>T p.I1019L Missense 4/10 - 1
2-48028176-CAT-C c.3056_3057del p.I1019Kfs*3 Frameshift 4/10 - 1
2-48028180-A-G c.3058A>G p.N1020D Missense 4/10 - 2
2-48028184-C-A c.3062C>A p.A1021D Missense 4/10 - 1
2-48028186-G-T c.3064G>T p.E1022* Nonsense 4/10 - 1
2-48028192-CGG-TGT c.3070_3072delinsTGT p.R1024C Missense 4/10 - 3
2-48028192-C-T c.3070C>T p.R1024W Missense 4/10 - 1
2-48028193-G-A c.3071G>A p.R1024Q Missense 4/10 - 2
2-48028194-G-A c.3072G>A p.R1024= Synonymous 4/10 - 1
2-48028195-A-T c.3073A>T p.R1025W Missense 4/10 - 2
2-48028201-G-C c.3079G>C p.V1027L Missense 4/10 - 1
2-48028201-G-T c.3079G>T p.V1027L Missense 4/10 - 1
2-48028201-G-GT c.3080dup p.S1028Ifs*12 Frameshift 4/10 - 1
2-48028205-C-A c.3083C>A p.S1028* Nonsense 4/10 - 2
2-48028205-C-G c.3083C>G p.S1028* Nonsense 4/10 - 1
2-48028222-C-T c.3100C>T p.R1034W Missense 4/10 - 2
2-48028223-G-A c.3101G>A p.R1034Q Missense 4/10 - 1
2-48028223-G-C c.3101G>C p.R1034P Missense 4/10 - 1
2-48028225-C-T c.3103C>T p.R1035* Nonsense 4/10 - 12
2-48028226-G-A c.3104G>A p.R1035Q Missense 4/10 - 3
2-48028228-CTG-C c.3108_3109del p.F1037Lfs*2 Frameshift 4/10 - 2
2-48028236-T-A c.3114T>A p.Y1038* Nonsense 4/10 - 1
2-48028236-T-G c.3114T>G p.Y1038* Nonsense 4/10 - 1
2-48028239-CTT-C c.3119_3120del p.F1040* Frameshift 4/10 - 3
2-48028245-TA-T c.3128del p.N1043Ifs*9 Frameshift 4/10 - 1
2-48028245-T-TA c.3128dup p.N1043Kfs*23 Frameshift 4/10 - 1
2-48028254-C-CT c.3132_3133insT p.K1045* Nonsense 4/10 - 2
2-48028262-G-T c.3140G>T p.W1047L Missense 4/10 - 1
2-48028264-C-T c.3142C>T p.Q1048* Nonsense 4/10 - 2
2-48028265-A-G c.3143A>G p.Q1048R Missense 4/10 - 1
2-48028268-C-T c.3146C>T p.S1049F Missense 4/10 - 1
2-48028273-G-A c.3151G>A p.V1051I Missense 4/10 - 4
2-48028274-TAG-T c.3155_3156del p.E1052Vfs*13 Frameshift 4/10 - 2
2-48028277-A-G c.3155A>G p.E1052G Missense 4/10 - 1
2-48028277-GA-G c.3155del p.E1052Gfs*27 Frameshift 4/10 - 1
2-48028281-T-A c.3159T>A p.C1053* Nonsense 4/10 - 1
2-48028281-T-TTTGA c.3159_3160insTTGA p.I1054Lfs*13 Frameshift 4/10 - 1
2-48028282-A-G c.3160A>G p.I1054V Missense 4/10 - 1
2-48028282-A-T c.3160A>T p.I1054F Missense 4/10 - 2
2-48028283-T-C c.3161T>C p.I1054T Missense 4/10 - 1
2-48028285-G-A c.3163G>A p.A1055T Missense 4/10 - 4
2-48028288-G-A c.3166G>A p.V1056M Missense 4/10 - 1
2-48028288-G-C c.3166G>C p.V1056L Missense 4/10 - 1
2-48028295-G-A c.3172+1G>A - IntronicSNV - 4/9 1
2-48028295-G-T c.3172+1G>T - IntronicSNV - 4/9 2
2-48028314-T-C c.3172+20T>C - IntronicSNV - 4/9 1
2-48028465-C-T c.3172+171C>T - IntronicSNV - 4/9 1
2-48030462-T-C c.3173-97T>C - IntronicSNV - 4/9 1
2-48030559-GATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCA-G c.3173_3231del p.D1058Gfs*15 Unclassified 5/10 - 1
2-48030564-TT-AG c.3178_3179delinsAG p.L1060R Missense 5/10 - 1
2-48030568-T-C c.3182T>C p.L1061P Missense 5/10 - 2
2-48030571-G-T c.3185G>T p.C1062F Missense 5/10 - 1
2-48030572-C-A c.3186C>A p.C1062* Nonsense 5/10 - 1
2-48030574-T-G c.3188T>G p.L1063R Missense 5/10 - 5
2-48030579-AACTAT-A c.3195_3199del p.N1065Kfs*5 Frameshift 5/10 - 2
2-48030583-A-G c.3197A>G p.Y1066C Missense 5/10 - 2
2-48030583-A-T c.3197A>T p.Y1066F Missense 5/10 - 1
2-48030588-C-T c.3202C>T p.R1068* Nonsense 5/10 - 12
2-48030589-G-A c.3203G>A p.R1068Q Missense 5/10 - 2
2-48030591-G-C c.3205G>C p.G1069R Missense 5/10 - 4
2-48030592-G-A c.3206G>A p.G1069E Missense 5/10 - 1
2-48030590-AG-A c.3209del p.G1070Vfs*9 Frameshift 5/10 - 3
2-48030595-G-A c.3209G>A p.G1070D Missense 5/10 - 1
2-48030601-G-A c.3215G>A p.G1072D Missense 5/10 - 1
2-48030601-G-T c.3215G>T p.G1072V Missense 5/10 - 2
2-48030603-C-T c.3217C>T p.P1073S Missense 5/10 - 5
2-48030604-C-G c.3218C>G p.P1073R Missense 5/10 - 1
2-48030605-T-G c.3219T>G p.P1073= Synonymous 5/10 - 1
2-48030609-T-C c.3223T>C p.C1075R Missense 5/10 - 1
2-48030612-C-G c.3226C>G p.R1076G Missense 5/10 - 1
2-48030612-C-T c.3226C>T p.R1076C Missense 5/10 - 16
2-48030613-G-A c.3227G>A p.R1076H Missense 5/10 - 4
2-48030613-GC-AA c.3227_3228delinsAA p.R1076Q Missense 5/10 - 1
2-48030618-G-C c.3232G>C p.V1078L Missense 5/10 - 1
2-48030622-T-C c.3236T>C p.I1079T Missense 5/10 - 1
2-48030622-TTC-T c.3238_3239del p.L1080Vfs*12 Frameshift 5/10 - 4
2-48030629-G-C c.3243G>C p.L1081F Missense 5/10 - 1
2-48030629-G-T c.3243G>T p.L1081F Missense 5/10 - 1
2-48030630-C-T c.3244C>T p.P1082S Missense 5/10 - 8
2-48030631-C-T c.3245C>T p.P1082L Missense 5/10 - 1
2-48030632-G-A c.3246G>A p.P1082= Synonymous 5/10 - 1
2-48030632-G-C c.3246G>C p.P1082= Synonymous 5/10 - 2
2-48030632-G-T c.3246G>T p.P1082= Synonymous 5/10 - 3
2-48030631-CG-C c.3247del p.E1083Kfs*7 Frameshift 5/10 - 1
2-48030637-A-AT c.3252dup p.T1085Yfs*8 Frameshift 5/10 - 1
2-48030639-ACC-TAA c.3253_3255delinsTAA p.T1085* Nonsense 5/10 - 1
2-48030640-C-A c.3254C>A p.T1085N Missense 5/10 - 1
2-48030640-C-G c.3254C>G p.T1085S Missense 5/10 - 1
2-48030640-C-T c.3254C>T p.T1085I Missense 5/10 - 1
2-48030641-C-T c.3255C>T p.T1085= Synonymous 5/10 - 1
2-48030642-C-T c.3256C>T p.P1086S Missense 5/10 - 1
2-48030645-C-A c.3259C>A p.P1087T Missense 5/10 - 4
2-48030645-C-G c.3259C>G p.P1087A Missense 5/10 - 1
2-48030645-C-T c.3259C>T p.P1087S Missense 5/10 - 6
2-48030639-ACC-A c.3260_3261del p.P1087Lfs*5 Frameshift 5/10 - 1
2-48030646-C-A c.3260C>A p.P1087H Missense 5/10 - 4
2-48030646-C-G c.3260C>G p.P1087R Missense 5/10 - 7
2-48030639-A-AC c.3261dup p.F1088Lfs*5 Frameshift 5/10 - 78
2-48030639-AC-A c.3261del p.F1088Sfs*2 Frameshift 5/10 - 55
2-48030647-C-A c.3261C>A p.P1087= Synonymous 5/10 - 1
2-48030647-CCT-C c.3261_3262del p.F1088Lfs*4 Frameshift 5/10 - 2
2-48030647-C-G c.3261C>G p.P1087= Synonymous 5/10 - 1
2-48030647-C-T c.3261C>T p.P1087= Synonymous 5/10 - 1
2-48030648-T-TA c.3262_3263insA p.F1088Yfs*5 Frameshift 5/10 - 1
2-48030647-C-CT c.3263dup p.E1090Rfs*3 Frameshift 5/10 - 1
2-48030649-T-C c.3263T>C p.F1088S Missense 5/10 - 3
2-48030646-CCTT-C c.3264_3266del p.F1088del InFrameDeletion 5/10 - 1
2-48030651-T-C c.3265T>C p.L1089= Synonymous 5/10 - 1
2-48030653-A-T c.3267A>T p.L1089F Missense 5/10 - 1
2-48030649-TCTTAGAG-T c.3268_3274del p.E1090Kfs*23 Frameshift 5/10 - 1
2-48030654-AGAGCT-A c.3268_3272del p.E1090* Frameshift 5/10 - 1
2-48030654-G-T c.3268G>T p.E1090* Nonsense 5/10 - 2
2-48030657-C-CT c.3273dup p.K1092* Nonsense 5/10 - 3
2-48030662-A-G c.3276A>G p.K1092= Synonymous 5/10 - 1
2-48030669-C-T c.3283C>T p.R1095C Missense 5/10 - 6
2-48030670-G-A c.3284G>A p.R1095H Missense 5/10 - 9
2-48030672-CA-GC c.3286_3287delinsGC p.H1096A Missense 5/10 - 3
2-48030672-C-T c.3286C>T p.H1096Y Missense 5/10 - 1
2-48030675-C-T c.3289C>T p.P1097S Missense 5/10 - 1
2-48030674-TC-T c.3290del p.P1097Lfs*18 Frameshift 5/10 - 1
2-48030680-C-A c.3294C>A p.C1098* Nonsense 5/10 - 1
2-48030680-C-G c.3294C>G p.C1098W Missense 5/10 - 1
2-48030682-ATT-A c.3296_3297del p.I1099Nfs*8 Frameshift 5/10 - 1
2-48030682-T-A c.3296T>A p.I1099N Missense 5/10 - 1
2-48030685-C-T c.3299C>T p.T1100M Missense 5/10 - 4
2-48030686-G-A c.3300G>A p.T1100= Synonymous 5/10 - 1
2-48030686-G-C c.3300G>C p.T1100= Synonymous 5/10 - 1
2-48030689-G-C c.3303G>C p.K1101N Missense 5/10 - 1
2-48030689-G-T c.3303G>T p.K1101N Missense 5/10 - 1
2-48030692-T-A c.3306T>A p.T1102= Synonymous 5/10 - 7
2-48030691-CTT-C c.3311_3312del p.F1104Wfs*3 Frameshift 5/10 - 4
2-48030697-T-C c.3311T>C p.F1104S Missense 5/10 - 1
2-48030691-C-CT c.3312dup p.G1105Wfs*3 Frameshift 5/10 - 6
2-48030691-CT-C c.3312del p.F1104Lfs*11 Frameshift 5/10 - 8
2-48030698-T-A c.3312T>A p.F1104L Missense 5/10 - 1
2-48030699-G-T c.3313G>T p.G1105* Nonsense 5/10 - 1
2-48030700-G-A c.3314G>A p.G1105E Missense 5/10 - 1
2-48030702-G-A c.3316G>A p.D1106N Missense 5/10 - 1
2-48030702-G-T c.3316G>T p.D1106Y Missense 5/10 - 1
2-48030705-G-T c.3319G>T p.D1107Y Missense 5/10 - 1
2-48030706-GA-G c.3320del p.D1107Vfs*8 Frameshift 5/10 - 1
2-48030720-G-A c.3334G>A p.D1112N Missense 5/10 - 2
2-48030722-C-CATGA c.3338_3339insGAAT p.I1113Mfs*7 Frameshift 5/10 - 1
2-48030724-T-G c.3338T>G p.I1113S Missense 5/10 - 1
2-48030726-C-T c.3340C>T p.L1114= Synonymous 5/10 - 1
2-48030727-T-TC c.3341_3342insC p.I1115Nfs*4 Frameshift 5/10 - 1
2-48030728-A-G c.3342A>G p.L1114= Synonymous 5/10 - 1
2-48030730-T-C c.3344T>C p.I1115T Missense 5/10 - 1
2-48030735-T-C c.3349T>C p.C1117R Missense 5/10 - 1
2-48030747-G-A c.3361G>A p.E1121K Missense 5/10 - 1
2-48030762-A-G c.3376A>G p.K1126E Missense 5/10 - 1
2-48030765-G-A c.3379G>A p.A1127T Missense 5/10 - 1
2-48030772-TGTG-T c.3386_3388del p.C1129_V1130delinsL MultiAAMissense 5/10 - 2
2-48030783-A-G c.3397A>G p.T1133A Missense 5/10 - 1
2-48030784-C-G c.3398C>G p.T1133S Missense 5/10 - 1
2-48030786-G-A c.3400G>A p.G1134R Missense 5/10 - 1
2-48030786-G-C c.3400G>C p.G1134R Missense 5/10 - 1
2-48030788-A-AC c.3404dup p.N1136Kfs*28 Frameshift 5/10 - 1
2-48030790-CCAAAT-C c.3404_3408del p.P1135Hfs*27 Frameshift 5/10 - 1
2-48030793-A-G c.3407A>G p.N1136S Missense 5/10 - 1
2-48030796-T-G c.3410T>G p.M1137R Missense 5/10 - 1
2-48030801-G-A c.3415G>A p.G1139S Missense 5/10 - 6
2-48030796-TG-T c.3416del p.G1139Afs*6 Frameshift 5/10 - 2
2-48030796-T-TG c.3416dup p.K1140Qfs*24 Frameshift 5/10 - 2
2-48030802-G-A c.3416G>A p.G1139D Missense 5/10 - 1
2-48030803-C-T c.3417C>T p.G1139= Synonymous 5/10 - 1
2-48030804-AA-GC c.3418_3419delinsGC p.K1140A Missense 5/10 - 1
2-48030805-A-G c.3419A>G p.K1140R Missense 5/10 - 2
2-48030811-C-T c.3425C>T p.T1142M Missense 5/10 - 2
2-48030812-G-A c.3426G>A p.T1142= Synonymous 5/10 - 1
2-48030815-T-TAA c.3430_3431insAA p.M1144Kfs*2 Frameshift 5/10 - 1
2-48030825-G-A c.3438+1G>A - IntronicSNV - 5/9 6
2-48030825-G-C c.3438+1G>C - IntronicSNV - 5/9 1
2-48030830-T-C c.3438+6T>C - IntronicSNV - 5/9 2
2-48030838-A-T c.3438+14A>T - IntronicSNV - 5/9 10
2-48030837-TA-T c.3438+16del - IntronicDeletion - 5/9 1
2-48032033-C-T c.3439-16C>T - IntronicSNV - 5/9 2
2-48032048-G-T c.3439-1G>T - IntronicSNV - 5/9 1
2-48032049-G-A c.3439G>A p.A1147T Missense 6/10 - 1
2-48032050-C-T c.3440C>T p.A1147V Missense 6/10 - 1
2-48032053-G-T c.3443G>T p.G1148V Missense 6/10 - 1
2-48032059-T-C c.3449T>C p.L1150S Missense 6/10 - 1
2-48032062-C-T c.3452C>T p.A1151V Missense 6/10 - 1
2-48032070-G-A c.3460G>A p.A1154T Missense 6/10 - 2
2-48032071-C-T c.3461C>T p.A1154V Missense 6/10 - 1
2-48032073-C-G c.3463C>G p.Q1155E Missense 6/10 - 1
2-48032078-G-A c.3468G>A p.M1156I Missense 6/10 - 1
2-48032078-G-C c.3468G>C p.M1156I Missense 6/10 - 1
2-48032078-G-T c.3468G>T p.M1156I Missense 6/10 - 1
2-48032079-G-A c.3469G>A p.G1157S Missense 6/10 - 3
2-48032080-G-A c.3470G>A p.G1157D Missense 6/10 - 1
2-48032079-GGTT-G c.3473_3475del p.C1158del InFrameDeletion 6/10 - 1
2-48032087-C-A c.3477C>A p.Y1159* Nonsense 6/10 - 2
2-48032087-C-G c.3477C>G p.Y1159* Nonsense 6/10 - 2
2-48032087-C-T c.3477C>T p.Y1159= Synonymous 6/10 - 1
2-48032094-G-C c.3484G>C p.A1162P Missense 6/10 - 1
2-48032091-CCTG-C c.3485_3487del p.A1162del InFrameDeletion 6/10 - 1
2-48032097-G-T c.3487G>T p.E1163* Nonsense 6/10 - 2
2-48032098-A-G c.3488A>G p.E1163G Missense 6/10 - 2
2-48032098-A-T c.3488A>T p.E1163V Missense 6/10 - 13
2-48032098-GAA-G c.3488_3489del p.E1163Gfs*8 Frameshift 6/10 - 1
2-48032099-A-C c.3489A>C p.E1163D Missense 6/10 - 1
2-48032099-A-G c.3489A>G p.E1163= Synonymous 6/10 - 1
2-48032099-A-T c.3489A>T p.E1163D Missense 6/10 - 1
2-48032100-G-A c.3490G>A p.V1164M Missense 6/10 - 1
2-48032101-T-C c.3491T>C p.V1164A Missense 6/10 - 1
2-48032109-C-T c.3499C>T p.L1167F Missense 6/10 - 1
2-48032111-C-T c.3501C>T p.L1167= Synonymous 6/10 - 1
2-48032115-C-G c.3505C>G p.P1169A Missense 6/10 - 1
2-48032115-C-T c.3505C>T p.P1169S Missense 6/10 - 1
2-48032118-A-AT c.3510dup p.D1171* Nonsense 6/10 - 1
2-48032118-AT-A c.3510del p.I1170Mfs*14 Frameshift 6/10 - 1
2-48032122-GATAGA-G c.3512_3516del p.D1171Gfs*4 Frameshift 6/10 - 1
2-48032121-GATAGAGTGTTT-G c.3513_3523del p.R1172* Frameshift 6/10 - 1
2-48032121-GAT-G c.3513_3514del p.D1171Efs*5 Frameshift 6/10 - 2
2-48032122-A-AT c.3513dup p.R1172* Nonsense 6/10 - 1
2-48032123-T-TA c.3514dup p.R1172Kfs*5 Frameshift 6/10 - 15
2-48032123-T-TAA c.3514_3515insAA p.R1172Kfs*13 Frameshift 6/10 - 2
2-48032124-TAGA-T c.3514_3516del p.R1172del InFrameDeletion 6/10 - 1
2-48032125-G-C c.3515G>C p.R1172T Missense 6/10 - 1
2-48032123-TAG-T c.3516_3517del p.R1172Sfs*4 Frameshift 6/10 - 1
2-48032127-G-A c.3517G>A p.V1173M Missense 6/10 - 1
2-48032129-GT-G c.3522del p.F1174Lfs*10 Frameshift 6/10 - 1
2-48032136-A-T c.3526A>T p.R1176* Nonsense 6/10 - 1
2-48032139-C-G c.3529C>G p.L1177V Missense 6/10 - 3
2-48032149-C-G c.3539C>G p.S1180* Nonsense 6/10 - 1
2-48032162-G-A c.3552G>A p.M1184I Missense 6/10 - 1
2-48032164-C-T c.3554C>T p.S1185L Missense 6/10 - 1
2-48032168-T-C c.3556+2T>C - IntronicSNV - 6/9 1
2-48032166-GGTGAGTTTTTT-G c.3556+3_3556+13del - IntronicDeletion - 6/9 3
2-48032169-TGAGTTTTTTGTTTC-T c.3556+3_3556+16del - IntronicDeletion - 6/9 1
2-48032312-G-A c.3556+146G>A - IntronicSNV - 6/9 2
2-48032312-G-T c.3556+146G>T - IntronicSNV - 6/9 2
2-48032326-T-C c.3556+160T>C - IntronicSNV - 6/9 1
2-48032613-G-A c.3557-144G>A - IntronicSNV - 6/9 1
2-48032717-T-A c.3557-40T>A - IntronicSNV - 6/9 2
2-48032758-GTGAAAGTA-G c.3558_3565del p.E1187Ifs*4 SpliceAcceptorDeletion 7/10 - 1
2-48032759-G-A c.3559G>A p.E1187K Missense 7/10 - 1
2-48032759-TGAAAGTACATTTTTTGTTGAATTAAGTGAAACTGCCAGCATACTCATGCATGCAACAGC-T c.3559_3617del p.E1187Tfs*8 InFrameDeletion 7/10 - 1
2-48032761-A-G c.3561A>G p.E1187= Synonymous 7/10 - 1
2-48032763-G-A c.3563G>A p.S1188N Missense 7/10 - 1
2-48032766-C-T c.3566C>T p.T1189I Missense 7/10 - 1
2-48032767-A-C c.3567A>C p.T1189= Synonymous 7/10 - 1
2-48032767-A-G c.3567A>G p.T1189= Synonymous 7/10 - 1
2-48032767-A-T c.3567A>T p.T1189= Synonymous 7/10 - 1
2-48032767-A-AT c.3573dup p.V1192Cfs*2 Frameshift 7/10 - 1
2-48032767-AT-A c.3573del p.F1191Lfs*4 Frameshift 7/10 - 1
2-48032774-TG-T c.3574del p.V1192Lfs*3 Frameshift 7/10 - 2
2-48032775-T-A c.3575T>A p.V1192D Missense 7/10 - 1
2-48032775-T-TTGAA c.3577_3580dup p.L1194* Nonsense 7/10 - 1
2-48032777-G-A c.3577G>A p.E1193K Missense 7/10 - 4
2-48032777-GA-CT c.3577_3578delinsCT p.E1193L Missense 7/10 - 1
2-48032781-T-A c.3581T>A p.L1194* Nonsense 7/10 - 1
2-48032781-T-G c.3581T>G p.L1194* Nonsense 7/10 - 1
2-48032783-A-G c.3583A>G p.S1195G Missense 7/10 - 2
2-48032786-G-T c.3586G>T p.E1196* Nonsense 7/10 - 1
2-48032787-A-T c.3587A>T p.E1196V Missense 7/10 - 2
2-48032786-G-GA c.3589dup p.T1197Nfs*18 Frameshift 7/10 - 1
2-48032789-A-T c.3589A>T p.T1197S Missense 7/10 - 1
2-48032791-T-C c.3591T>C p.T1197= Synonymous 7/10 - 1
2-48032800-A-G c.3600A>G p.I1200M Missense 7/10 - 1
2-48032800-TAC-T c.3600_3601del p.L1201Hfs*13 Frameshift 7/10 - 1
2-48032801-C-T c.3601C>T p.L1201F Missense 7/10 - 1
2-48032803-C-CA c.3604dup p.M1202Nfs*13 Frameshift 7/10 - 1
2-48032805-T-C c.3605T>C p.M1202T Missense 7/10 - 1
2-48032809-T-G c.3609T>G p.H1203Q Missense 7/10 - 1
2-48032825-C-G c.3625C>G p.L1209V Missense 7/10 - 1
2-48032826-T-C c.3626T>C p.L1209P Missense 7/10 - 1
2-48032832-T-C c.3632T>C p.L1211P Missense 7/10 - 3
2-48032836-G-A c.3636G>A p.V1212= Synonymous 7/10 - 1
2-48032839-T-A c.3639T>A p.D1213E Missense 7/10 - 1
2-48032844-T-A c.3644T>A p.L1215* Nonsense 7/10 - 1
2-48032845-A-C c.3645A>C p.L1215F Missense 7/10 - 1
2-48032843-TTAGG-T c.3646_3646+3del - SpliceDonorDeletion 7/10 7/9 1
2-48032846-G-A c.3646G>A p.G1216R Missense 7/10 - 1
2-48032846-G-C c.3646G>C p.G1216R Missense 7/10 - 1
2-48032847-G-GT c.3646+2dup - IntronicInsertion - 7/9 3
2-48032848-T-C c.3646+2T>C - IntronicSNV - 7/9 1
2-48032856-TA-T c.3646+13del - IntronicDeletion - 7/9 1
2-48032874-ACTAT-A c.3646+35_3646+38del - IntronicDeletion - 7/9 3
2-48032937-T-C c.3646+91T>C - IntronicSNV - 7/9 2
2-48033272-A-AT c.3647-66dup - IntronicInsertion - 7/9 1
2-48033341-A-C c.3647-2A>C - IntronicSNV - 7/9 1
2-48033343-G-A c.3647G>A p.G1216E Missense 8/10 - 1
2-48033351-AC-GA c.3655_3656delinsGA p.T1219D Missense 8/10 - 6
2-48033352-C-A c.3656C>A p.T1219N Missense 8/10 - 1
2-48033352-C-T c.3656C>T p.T1219I Missense 8/10 - 14
2-48033354-G-A c.3658G>A p.A1220T Missense 8/10 - 1
2-48033355-C-CAACA c.3660_3663dup p.F1222Nfs*3 Frameshift 8/10 - 1
2-48033360-T-G c.3664T>G p.F1222V Missense 8/10 - 1
2-48033369-A-T c.3673A>T p.T1225S Missense 8/10 - 1
2-48033370-ACGGCAATAGC-A c.3674_3683del p.T1225Kfs*12 Frameshift 8/10 - 1
2-48033370-C-A c.3674C>A p.T1225K Missense 8/10 - 1
2-48033370-C-T c.3674C>T p.T1225M Missense 8/10 - 9
2-48033371-G-GTTGA c.3675_3676insTTGA p.A1226Lfs*9 Frameshift 8/10 - 2
2-48033374-A-G c.3678A>G p.A1226= Synonymous 8/10 - 1
2-48033375-A-G c.3679A>G p.I1227V Missense 8/10 - 1
2-48033378-G-C c.3682G>C p.A1228P Missense 8/10 - 1
2-48033385-C-G c.3689C>G p.A1230G Missense 8/10 - 2
2-48033388-T-TG c.3692_3693insG p.V1232Cfs*2 Frameshift 8/10 - 1
2-48033386-AGTT-A c.3694_3696del p.V1232del InFrameDeletion 8/10 - 1
2-48033392-TAAAG-T c.3699_3702del p.K1233Nfs*6 Frameshift 8/10 - 1
2-48033392-T-TA c.3699dup p.E1234Rfs*4 Frameshift 8/10 - 1
2-48033396-G-T c.3700G>T p.E1234* Nonsense 8/10 - 3
2-48033409-CTA-C c.3716_3717del p.I1239Kfs*35 Frameshift 8/10 - 1
2-48033418-G-A c.3722G>A p.C1241Y Missense 8/10 - 1
2-48033417-TGTC-T c.3724_3726del p.R1242del InFrameDeletion 8/10 - 2
2-48033420-C-T c.3724C>T p.R1242C Missense 8/10 - 1
2-48033420-TC-T c.3724del p.R1242Vfs*11 Frameshift 8/10 - 1
2-48033421-CGTA-C c.3725_3727del p.R1242_T1243delinsP MultiAAMissense 8/10 - 1
2-48033421-G-A c.3725G>A p.R1242H Missense 8/10 - 3
2-48033421-G-T c.3725G>T p.R1242L Missense 8/10 - 1
2-48033423-A-T c.3727A>T p.T1243S Missense 8/10 - 4
2-48033428-A-G c.3732A>G p.L1244= Synonymous 8/10 - 1
2-48033433-C-T c.3737C>T p.S1246L Missense 8/10 - 1
2-48033436-C-G c.3740C>G p.T1247S Missense 8/10 - 1
2-48033434-AACTC-A c.3742_3745del p.H1248Tfs*4 Frameshift 8/10 - 1
2-48033438-C-G c.3742C>G p.H1248D Missense 8/10 - 4
2-48033439-A-AT c.3743_3744insT p.Y1249Lfs*26 Frameshift 8/10 - 1
2-48033435-ACTCACTACCATTCATTAGTAGAAGATTATT-A c.3744_3773del p.H1248_S1257del InFrameDeletion 8/10 - 3
2-48033440-C-T c.3744C>T p.H1248= Synonymous 8/10 - 1
2-48033440-C-CT c.3745dup p.Y1249Lfs*26 Frameshift 8/10 - 1
2-48033449-A-AT c.3755dup p.L1252Ffs*23 Frameshift 8/10 - 1
2-48033454-T-A c.3758T>A p.V1253E Missense 8/10 - 2
2-48033454-T-C c.3758T>C p.V1253A Missense 8/10 - 1
2-48033454-TAGA-T c.3762_3764del p.E1254del InFrameDeletion 8/10 - 1
2-48033458-A-C c.3762A>C p.E1254D Missense 8/10 - 1
2-48033458-A-T c.3762A>T p.E1254D Missense 8/10 - 4
2-48033461-T-A c.3765T>A p.D1255E Missense 8/10 - 1
2-48033461-T-G c.3765T>G p.D1255E Missense 8/10 - 1
2-48033464-T-G c.3768T>G p.Y1256* Nonsense 8/10 - 2
2-48033463-ATTC-A c.3769_3771del p.S1257del InFrameDeletion 8/10 - 1
2-48033468-C-A c.3772C>A p.Q1258K Missense 8/10 - 1
2-48033468-C-G c.3772C>G p.Q1258E Missense 8/10 - 7
2-48033468-C-T c.3772C>T p.Q1258* Nonsense 8/10 - 2
2-48033483-C-T c.3787C>T p.R1263C Missense 8/10 - 4
2-48033484-G-A c.3788G>A p.R1263H Missense 8/10 - 1
2-48033486-C-G c.3790C>G p.L1264V Missense 8/10 - 1
2-48033488-A-C c.3792A>C p.L1264= Synonymous 8/10 - 1
2-48033490-G-C c.3794G>C p.G1265A Missense 8/10 - 1
2-48033492-CAT-C c.3799_3800del p.M1267Gfs*7 SpliceDonorDeletion 8/10 - 1
2-48033493-ATATGG-A c.3801+1_3801+5del - SpliceDonorDeletion - 8/9 3
2-48033498-G-T c.3801+1G>T - IntronicSNV - 8/9 1
2-48033502-G-A c.3801+5G>A - IntronicSNV - 8/9 1
2-48033520-C-T c.3801+23C>T - IntronicSNV - 8/9 1
2-48033546-C-T c.3802-45C>T - IntronicSNV - 8/9 1
2-48033551-C-G c.3802-40C>G - IntronicSNV - 8/9 3
2-48033551-C-T c.3802-40C>T - IntronicSNV - 8/9 3
2-48033592-C-CA c.3804dup p.C1269Mfs*6 Frameshift 9/10 - 3
2-48033593-A-G c.3804A>G p.A1268= Synonymous 9/10 - 1
2-48033607-A-G c.3818A>G p.N1273S Missense 9/10 - 2
2-48033608-T-G c.3819T>G p.N1273K Missense 9/10 - 2
2-48033609-G-T c.3820G>T p.E1274* Nonsense 9/10 - 1
2-48033609-G-GA c.3822dup p.C1275Mfs*2 Frameshift 9/10 - 1
2-48033613-G-A c.3824G>A p.C1275Y Missense 9/10 - 2
2-48033615-G-T c.3826G>T p.E1276* Nonsense 9/10 - 2
2-48033617-A-C c.3828A>C p.E1276D Missense 9/10 - 1
2-48033618-G-A c.3829G>A p.D1277N Missense 9/10 - 1
2-48033620-C-G c.3831C>G p.D1277E Missense 9/10 - 1
2-48033616-AAGACCCCAGCCAGG-A c.3832_3845del p.P1278Yfs*6 Frameshift 9/10 - 2
2-48033621-C-A c.3832C>A p.P1278T Missense 9/10 - 1
2-48033621-C-G c.3832C>G p.P1278A Missense 9/10 - 2
2-48033621-C-T c.3832C>T p.P1278S Missense 9/10 - 1
2-48033619-A-AC c.3834dup p.S1279Qfs*10 Frameshift 9/10 - 1
2-48033624-AG-CC c.3835_3836delinsCC p.S1279P Missense 9/10 - 1
2-48033625-G-A c.3836G>A p.S1279N Missense 9/10 - 1
2-48033625-G-T c.3836G>T p.S1279I Missense 9/10 - 1
2-48033627-C-T c.3838C>T p.Q1280* Nonsense 9/10 - 4
2-48033629-AGGAGACT-A c.3840_3846del p.E1281Lfs*44 Frameshift 9/10 - 3
2-48033631-A-G c.3842A>G p.E1281G Missense 9/10 - 1
2-48033634-C-G c.3845C>G p.T1282S Missense 9/10 - 1
2-48033634-CTATTACGTTCCTCTA-C c.3848_3862del p.I1283_Y1287del InFrameDeletion 9/10 - 3
2-48033637-ATTAC-A c.3848_3851del p.I1283Sfs*43 Frameshift 9/10 - 1
2-48033638-TTAC-T c.3849_3851del p.I1283_T1284delinsM MultiAAMissense 9/10 - 1
2-48033640-C-T c.3851C>T p.T1284M Missense 9/10 - 4
2-48033641-G-A c.3852G>A p.T1284= Synonymous 9/10 - 1
2-48033648-CTAT-C c.3859_3861del p.Y1287del InFrameDeletion 9/10 - 1
2-48033651-A-C c.3862A>C p.K1288Q Missense 9/10 - 1
2-48033655-TC-AA c.3866_3867delinsAA p.F1289* Nonsense 9/10 - 2
2-48033667-CT-C c.3880del p.C1294Vfs*33 Frameshift 9/10 - 1
2-48033671-GT-G c.3882del p.P1295Lfs*32 Frameshift 9/10 - 1
2-48033672-CCTAAAAG-C c.3887_3893del p.K1296Mfs*29 Frameshift 9/10 - 1
2-48033679-G-A c.3890G>A p.S1297N Missense 9/10 - 2
2-48033680-C-T c.3891C>T p.S1297= Synonymous 9/10 - 1
2-48033682-A-G c.3893A>G p.Y1298C Missense 9/10 - 1
2-48033684-G-T c.3895G>T p.G1299C Missense 9/10 - 1
2-48033685-G-A c.3896G>A p.G1299D Missense 9/10 - 1
2-48033687-T-C c.3898T>C p.F1300L Missense 9/10 - 1
2-48033689-T-A c.3900T>A p.F1300L Missense 9/10 - 1
2-48033689-T-G c.3900T>G p.F1300L Missense 9/10 - 1
2-48033694-C-T c.3905C>T p.A1302V Missense 9/10 - 1
2-48033696-G-A c.3907G>A p.A1303T Missense 9/10 - 3
2-48033700-G-A c.3911G>A p.R1304K Missense 9/10 - 2
2-48033715-CAGAGG-C c.3928_3932del p.E1310Sfs*7 Frameshift 9/10 - 1
2-48033718-A-G c.3929A>G p.E1310G Missense 9/10 - 1
2-48033719-G-C c.3930G>C p.E1310D Missense 9/10 - 1
2-48033719-G-T c.3930G>T p.E1310D Missense 9/10 - 1
2-48033727-T-C c.3938T>C p.I1313T Missense 9/10 - 1
2-48033735-GGACATAGAAAAGCAAGA-G c.3949_3965del p.H1317Ifs*2 Frameshift 9/10 - 1
2-48033739-A-AT c.3951dup p.R1318* Nonsense 9/10 - 1
2-48033740-T-G c.3951T>G p.H1317Q Missense 9/10 - 1
2-48033743-A-AT c.3954_3955insT p.K1319* Nonsense 9/10 - 1
2-48033744-A-C c.3955A>C p.K1319Q Missense 9/10 - 1
2-48033745-A-G c.3956A>G p.K1319R Missense 9/10 - 1
2-48033742-G-GA c.3957dup p.A1320Sfs*5 Frameshift 9/10 - 3
2-48033747-G-C c.3958G>C p.A1320P Missense 9/10 - 1
2-48033744-AAAGC-A c.3959_3962del p.A1320Efs*6 Frameshift 9/10 - 14
2-48033750-A-G c.3961A>G p.R1321G Missense 9/10 - 4
2-48033752-A-T c.3963A>T p.R1321S Missense 9/10 - 1
2-48033753-G-T c.3964G>T p.E1322* Nonsense 9/10 - 4
2-48033758-TTGAGAAGATGA-T c.3969_3979del p.F1323Lfs*14 Frameshift 9/10 - 2
2-48033759-GAGA-G c.3974_3976del p.K1325del InFrameDeletion 9/10 - 5
2-48033763-A-G c.3974A>G p.K1325R Missense 9/10 - 1
2-48033765-A-T c.3976A>T p.M1326L Missense 9/10 - 1
2-48033767-G-GT c.3978_3979insT p.N1327* Nonsense 9/10 - 1
2-48033768-A-T c.3979A>T p.N1327Y Missense 9/10 - 1
2-48033767-G-GA c.3980dup p.N1327Kfs*14 Frameshift 9/10 - 1
2-48033769-A-G c.3980A>G p.N1327S Missense 9/10 - 1
2-48033771-C-T c.3982C>T p.Q1328* Nonsense 9/10 - 1
2-48033772-A-AG c.3984dup p.S1329Vfs*12 Frameshift 9/10 - 1
2-48033773-G-GATCA c.3984_3985insATCA p.S1329Ifs*13 Frameshift 9/10 - 1
2-48033774-T-C c.3985T>C p.S1329P Missense 9/10 - 1
2-48033775-C-T c.3986C>T p.S1329L Missense 9/10 - 2
2-48033776-A-AGT c.3987_3988insGT p.L1330Vfs*17 Frameshift 9/10 - 1
2-48033780-C-T c.3991C>T p.R1331* Nonsense 9/10 - 10
2-48033781-G-A c.3992G>A p.R1331Q Missense 9/10 - 1
2-48033782-A-G c.3993A>G p.R1331= Synonymous 9/10 - 1
2-48033784-T-TATTTC c.3996_4000dup p.R1334Hfs*14 SpliceDonorInsertion 9/10 - 2
2-48033789-C-T c.4000C>T p.R1334W Missense 9/10 - 2
2-48033790-G-A c.4001G>A p.R1334Q Missense 9/10 - 10
2-48033790-G-C c.4001G>C p.R1334P Missense 9/10 - 1
2-48033789-CG-C c.4001+1del - IntronicDeletion - 9/9 1
2-48033791-G-C c.4001+1G>C - IntronicSNV - 9/9 1
2-48033791-G-T c.4001+1G>T - IntronicSNV - 9/9 1
2-48033792-GT-G c.4001+2del - IntronicDeletion - 9/9 1
2-48033791-GTAACTAACTAACTATAATGGAATTA-G c.4001+11_4001+35del - IntronicDeletion - 9/9 3
2-48033791-GTAAC-G c.4001+12_4001+15del - IntronicDeletion - 9/9 6
2-48033829-C-G c.4001+39C>G - IntronicSNV - 9/9 1
2-48033873-A-G c.4002-45A>G - IntronicSNV - 9/9 1
2-48033919-G-T c.4003G>T p.E1335* Nonsense 10/10 - 1
2-48033920-A-C c.4004A>C p.E1335A Missense 10/10 - 2
2-48033923-T-G c.4007T>G p.V1336G Missense 10/10 - 1
2-48033942-G-A c.4026G>A p.R1342= Synonymous 10/10 - 1
2-48033948-T-G c.4032T>G p.T1344= Synonymous 10/10 - 1
2-48033949-G-T c.4033G>T p.V1345L Missense 10/10 - 1
2-48033951-TA-T c.4035del p.D1346Mfs*9 Frameshift 10/10 - 1
2-48033967-C-G c.4051C>G p.H1351D Missense 10/10 - 2
2-48033977-T-A c.4061T>A p.L1354Q Missense 10/10 - 4
2-48033981-T-TGTGA c.4065_4066insGTGA p.L1356Vfs*4 Frameshift 10/10 - 1
2-48033981-T-TTTGA c.4068_4071dup p.K1358Dfs*2 Frameshift 10/10 - 9
2-48033985-A-AT c.4071dup p.K1358* Nonsense 10/10 - 1
2-48033988-AAG-GAC c.4072_4074delinsGAC p.K1358D Missense 10/10 - 1
2-48033994-T-A c.4078T>A p.L1360I Missense 10/10 - 1
2-48034010-T-C c.*11T>C - 3-UTRSNV 10/10 - 1
2-48034084-T-A c.*85T>A - 3-UTRSNV 10/10 - 2