FLNA

FLNA filamin A

Annotation transcript: NM_001110556.2

14285 unique variant annotations were identified in 1177 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-153577132-C-CCA c.*84_*85insTG - 3-UTRInsertion 48/48 - 3
X-153577133-T-A c.*84A>T - 3-UTRSNV 48/48 - 3
X-153577133-T-C c.*84A>G - 3-UTRSNV 48/48 - 3
X-153577133-T-G c.*84A>C - 3-UTRSNV 48/48 - 3
X-153577218-C-A c.7943G>T p.*2648Lext*81 Missense 48/48 - 4
X-153577223-CACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTG-C c.7890_7937del p.K2631_V2646del InFrameDeletion 48/48 - 1
X-153577231-C-T c.7930G>A p.V2644I Missense 48/48 - 1
X-153577233-C-T c.7928G>A p.R2643H Missense 48/48 - 1
X-153577234-G-A c.7927C>T p.R2643C Missense 48/48 - 1
X-153577236-T-C c.7925A>G p.Y2642C Missense 48/48 - 1
X-153577239-G-A c.7922C>T p.P2641L Missense 48/48 - 4
X-153577240-G-A c.7921C>T p.P2641S Missense 48/48 - 2
X-153577240-G-C c.7921C>G p.P2641A Missense 48/48 - 4
X-153577237-AG-A c.7923del p.Y2642Tfs*63 Frameshift 48/48 - 2
X-153577241-G-A c.7920C>T p.S2640= Synonymous 48/48 - 1
X-153577242-CT-GG c.7918_7919delinsCC p.S2640P Missense 48/48 - 2
X-153577245-C-T c.7916G>A p.G2639D Missense 48/48 - 1
X-153577248-G-T c.7913C>A p.P2638Q Missense 48/48 - 1
X-153577251-A-T c.7910T>A p.I2637N Missense 48/48 - 1
X-153577258-C-T c.7903G>A p.E2635K Missense 48/48 - 2
X-153577259-G-A c.7902C>T p.D2634= Synonymous 48/48 - 2
X-153577260-T-C c.7901A>G p.D2634G Missense 48/48 - 1
X-153577261-C-A c.7900G>T p.D2634Y Missense 48/48 - 1
X-153577261-C-CA c.7899_7900insT p.D2634* Nonsense 48/48 - 2
X-153577261-C-T c.7900G>A p.D2634N Missense 48/48 - 3
X-153577265-C-T c.7896G>A p.W2632* Nonsense 48/48 - 2
X-153577260-TC-T c.7900del p.D2634Tfs*71 Frameshift 48/48 - 2
X-153577267-A-G c.7894T>C p.W2632R Missense 48/48 - 1
X-153577267-A-T c.7894T>A p.W2632R Missense 48/48 - 3
X-153577272-A-T c.7889T>A p.V2630D Missense 48/48 - 1
X-153577276-C-A c.7885G>T p.V2629L Missense 48/48 - 1
X-153577276-C-G c.7885G>C p.V2629L Missense 48/48 - 2
X-153577279-G-T c.7882C>A p.L2628M Missense 48/48 - 1
X-153577283-G-A c.7878C>T p.Y2626= Synonymous 48/48 - 1
X-153577287-TC-T c.7873del p.E2625Sfs*80 Frameshift 48/48 - 1
X-153577290-CCCTTGT-C c.7865_7870del p.D2622_K2623del InFrameDeletion 48/48 - 2
X-153577301-GAG-CAT c.7858_7860delinsATG p.L2620M Missense 48/48 - 1
X-153577311-G-A c.7850C>T p.S2617F Missense 48/48 - 4
X-153577312-A-G c.7849T>C p.S2617P Missense 48/48 - 1
X-153577320-T-TA c.7840dup p.Y2614Lfs*136 Frameshift 48/48 - 1
X-153577324-G-C c.7837C>G p.L2613V Missense 48/48 - 1
X-153577327-G-A c.7834C>T p.R2612W Missense 48/48 - 2
X-153577334-C-A c.7827G>T p.V2609= Synonymous 48/48 - 1
X-153577334-C-G c.7827G>C p.V2609= Synonymous 48/48 - 1
X-153577334-C-T c.7827G>A p.V2609= Synonymous 48/48 - 1
X-153577336-C-T c.7825G>A p.V2609M Missense 48/48 - 4
X-153577347-AG-A c.7813del p.L2605Wfs*2 Frameshift 48/48 - 3
X-153577354-C-A c.7807G>T p.E2603* Nonsense 48/48 - 1
X-153577354-C-T c.7807G>A p.E2603K Missense 48/48 - 1
X-153577355-C-A c.7806G>T p.E2602D Missense 48/48 - 1
X-153577355-C-G c.7806G>C p.E2602D Missense 48/48 - 1
X-153577358-G-C c.7803C>G p.C2601W Missense 48/48 - 1
X-153577359-CA-GT c.7801_7802delinsAC p.C2601T Missense 48/48 - 1
X-153577362-G-A c.7799C>T p.P2600L Missense 48/48 - 3
X-153577363-G-A c.7798C>T p.P2600S Missense 48/48 - 1
X-153577363-G-T c.7798C>A p.P2600T Missense 48/48 - 1
X-153577364-G-A c.7797C>T p.T2599= Synonymous 48/48 - 2
X-153577365-G-T c.7796C>A p.T2599N Missense 48/48 - 1
X-153577366-T-A c.7795A>T p.T2599S Missense 48/48 - 1
X-153577380-A-G c.7781T>C p.V2594A Missense 48/48 - 1
X-153577381-C-A c.7780G>T p.V2594F Missense 48/48 - 2
X-153577382-C-A c.7779G>T p.G2593= Synonymous 48/48 - 3
X-153577382-C-G c.7779G>C p.G2593= Synonymous 48/48 - 2
X-153577382-C-T c.7779G>A p.G2593= Synonymous 48/48 - 2
X-153577383-C-G c.7778G>C p.G2593A Missense 48/48 - 1
X-153577383-C-T c.7778G>A p.G2593E Missense 48/48 - 3
X-153577387-C-T c.7774G>A p.V2592M Missense 48/48 - 1
X-153577389-A-G c.7772T>C p.L2591P Missense 48/48 - 1
X-153577389-A-AG c.7771dup p.L2591Pfs*159 Frameshift 48/48 - 1
X-153577387-CCAG-C c.7771_7773del p.L2591del InFrameDeletion 48/48 - 1
X-153577719-G-A c.7756+11C>T - IntronicSNV - 47/47 3
X-153577733-C-T c.7753G>A p.A2585T Missense 47/48 - 1
X-153577744-T-C c.7742A>G p.D2581G Missense 47/48 - 1
X-153577745-C-G c.7741G>C p.D2581H Missense 47/48 - 1
X-153577748-C-T c.7738G>A p.V2580I Missense 47/48 - 1
X-153577752-G-A c.7734C>T p.F2578= Synonymous 47/48 - 1
X-153577764-C-T c.7722G>A p.Q2574= Synonymous 47/48 - 1
X-153577767-G-A c.7719C>T p.G2573= Synonymous 47/48 - 1
X-153577768-C-G c.7718G>C p.G2573A Missense 47/48 - 1
X-153577772-C-T c.7714G>A p.V2572I Missense 47/48 - 4
X-153577777-G-C c.7709C>G p.A2570G Missense 47/48 - 1
X-153577785-C-A c.7701G>T p.L2567= Synonymous 47/48 - 1
X-153577785-C-G c.7701G>C p.L2567= Synonymous 47/48 - 1
X-153577785-C-T c.7701G>A p.L2567= Synonymous 47/48 - 2
X-153577787-G-A c.7699C>T p.L2567= Synonymous 47/48 - 1
X-153577788-C-G c.7698G>C p.G2566= Synonymous 47/48 - 1
X-153577795-C-T c.7691G>A p.G2564D Missense 47/48 - 1
X-153577796-C-T c.7690G>A p.G2564S Missense 47/48 - 3
X-153577797-C-A c.7689G>T p.K2563N Missense 47/48 - 1
X-153577797-C-G c.7689G>C p.K2563N Missense 47/48 - 1
X-153577807-A-G c.7679T>C p.V2560A Missense 47/48 - 3
X-153577812-G-C c.7674C>G p.S2558R Missense 47/48 - 1
X-153577817-C-T c.7669G>A p.A2557T Missense 47/48 - 1
X-153577818-G-A c.7668C>T p.D2556= Synonymous 47/48 - 2
X-153577820-C-T c.7666G>A p.D2556N Missense 47/48 - 1
X-153577822-G-C c.7664C>G p.A2555G Missense 47/48 - 1
X-153577825-G-A c.7661C>T p.P2554L Missense 47/48 - 2
X-153577831-G-A c.7655C>T p.P2552L Missense 47/48 - 1
X-153577836-C-T c.7650G>A p.P2550= Synonymous 47/48 - 1
X-153577837-G-A c.7649C>T p.P2550L Missense 47/48 - 4
X-153577840-G-T c.7646C>A p.A2549D Missense 47/48 - 2
X-153577841-C-A c.7645G>T p.A2549S Missense 47/48 - 1
X-153577841-C-T c.7645G>A p.A2549T Missense 47/48 - 1
X-153577849-T-C c.7637A>G p.Q2546R Missense 47/48 - 1
X-153577851-G-T c.7635C>A p.P2545= Synonymous 47/48 - 2
X-153577853-G-C c.7633C>G p.P2545A Missense 47/48 - 1
X-153577854-G-A c.7632C>T p.A2544= Synonymous 47/48 - 3
X-153577855-G-A c.7631C>T p.A2544V Missense 47/48 - 1
X-153577857-A-G c.7629T>C p.C2543= Synonymous 47/48 - 1
X-153577858-C-T c.7628G>A p.C2543Y Missense 47/48 - 1
X-153577864-G-T c.7622C>A p.A2541D Missense 47/48 - 1
X-153577876-G-A c.7610C>T p.S2537F Missense 47/48 - 4
X-153577882-A-G c.7604T>C p.V2535A Missense 47/48 - 2
X-153577891-G-A c.7595C>T p.S2532L Missense 47/48 - 1
X-153577894-G-A c.7592C>T p.S2531L Missense 47/48 - 1
X-153577897-G-A c.7589C>T p.T2530I Missense 47/48 - 1
X-153577899-C-T c.7587G>A p.E2529= Synonymous 47/48 - 1
X-153577902-G-C c.7584C>G p.H2528Q Missense 47/48 - 2
X-153577902-G-T c.7584C>A p.H2528Q Missense 47/48 - 1
X-153577903-T-A c.7583A>T p.H2528L Missense 47/48 - 2
X-153577907-G-A c.7579C>T p.L2527F Missense 47/48 - 1
X-153577909-C-A c.7577G>T p.S2526I Missense 47/48 - 1
X-153577910-T-C c.7576A>G p.S2526G Missense 47/48 - 1
X-153577917-GCT-TCA c.7567_7569delinsTGA p.S2523* Nonsense 47/48 - 1
X-153577918-C-G c.7568G>C p.S2523T Missense 47/48 - 2
X-153577918-C-T c.7568G>A p.S2523N Missense 47/48 - 5
X-153577918-CT-GC c.7567_7568delinsGC p.S2523A Missense 47/48 - 1
X-153577922-C-A c.7564G>T p.V2522F Missense 47/48 - 1
X-153577922-C-T c.7564G>A p.V2522I Missense 47/48 - 2
X-153577927-AC-A c.7559del p.R2520Lfs*16 Frameshift 47/48 - 1
X-153577927-CG-C c.7558del p.R2520Vfs*16 Frameshift 47/48 - 1
X-153577932-GC-CT c.7553_7554delinsAG p.G2518E Missense 47/48 - 1
X-153577951-T-C c.7553-18A>G - IntronicSNV - 46/47 1
X-153577976-C-T c.7552+41G>A - IntronicSNV - 46/47 1
X-153578017-C-A c.7552G>T p.G2518C Missense 46/48 - 1
X-153578026-T-TA c.7542_7543insT p.K2515* Nonsense 46/48 - 1
X-153578029-C-CT c.7539_7540insA p.A2514Sfs*43 Frameshift 46/48 - 1
X-153578029-C-G c.7540G>C p.A2514P Missense 46/48 - 1
X-153578031-T-G c.7538A>C p.K2513T Missense 46/48 - 1
X-153578037-G-A c.7532C>T p.P2511L Missense 46/48 - 1
X-153578043-C-G c.7526G>C p.G2509A Missense 46/48 - 1
X-153578050-T-C c.7519A>G p.I2507V Missense 46/48 - 1
X-153578054-G-A c.7515C>T p.Y2505= Synonymous 46/48 - 1
X-153578060-G-A c.7509C>T p.G2503= Synonymous 46/48 - 1
X-153578062-C-A c.7507G>T p.G2503C Missense 46/48 - 1
X-153578063-G-A c.7506C>T p.G2502= Synonymous 46/48 - 1
X-153578063-G-C c.7506C>G p.G2502= Synonymous 46/48 - 1
X-153578063-G-T c.7506C>A p.G2502= Synonymous 46/48 - 1
X-153578073-A-T c.7496T>A p.I2499N Missense 46/48 - 1
X-153578074-T-C c.7495A>G p.I2499V Missense 46/48 - 1
X-153578076-G-A c.7493C>T p.S2498F Missense 46/48 - 2
X-153578084-G-A c.7485C>T p.Y2495= Synonymous 46/48 - 1
X-153578098-C-A c.7471G>T p.A2491S Missense 46/48 - 4
X-153578104-G-A c.7465C>T p.P2489S Missense 46/48 - 1
X-153578104-G-T c.7465C>A p.P2489T Missense 46/48 - 1
X-153578106-G-T c.7463C>A p.T2488N Missense 46/48 - 1
X-153578108-A-G c.7461T>C p.Y2487= Synonymous 46/48 - 1
X-153578112-G-A c.7457C>T p.T2486I Missense 46/48 - 1
X-153578115-A-G c.7454T>C p.V2485A Missense 46/48 - 1
X-153578117-G-A c.7452C>T p.R2484= Synonymous 46/48 - 2
X-153578118-C-T c.7451G>A p.R2484H Missense 46/48 - 4
X-153578119-G-A c.7450C>T p.R2484C Missense 46/48 - 1
X-153578120-G-A c.7449C>T p.Y2483= Synonymous 46/48 - 2
X-153578121-T-C c.7448A>G p.Y2483C Missense 46/48 - 2
X-153578122-A-G c.7447T>C p.Y2483H Missense 46/48 - 1
X-153578129-A-G c.7440T>C p.P2480= Synonymous 46/48 - 2
X-153578130-G-T c.7439C>A p.P2480H Missense 46/48 - 2
X-153578132-G-A c.7437C>T p.C2479= Synonymous 46/48 - 1
X-153578148-AT-TC c.7420_7421delinsGA p.M2474E Missense 46/48 - 4
X-153578152-T-C c.7417A>G p.K2473E Missense 46/48 - 1
X-153578162-G-T c.7407C>A p.P2469= Synonymous 46/48 - 2
X-153578163-G-A c.7406C>T p.P2469L Missense 46/48 - 2
X-153578163-GG-AA c.7405_7406delinsTT p.P2469F Missense 46/48 - 1
X-153578164-G-A c.7405C>T p.P2469S Missense 46/48 - 1
X-153578165-GC-CT c.7403_7404delinsAG p.G2468E Missense 46/48 - 1
X-153578168-G-A c.7401C>T p.D2467= Synonymous 46/48 - 1
X-153578168-G-C c.7401C>G p.D2467E Missense 46/48 - 1
X-153578168-G-T c.7401C>A p.D2467E Missense 46/48 - 1
X-153578165-GCCGTCAATGGTCA-G c.7391_7403del p.V2464Afs*5 Frameshift 46/48 - 4
X-153578179-C-A c.7390G>T p.V2464L Missense 46/48 - 1
X-153578180-C-A c.7389G>T p.S2463= Synonymous 46/48 - 2
X-153578180-C-G c.7389G>C p.S2463= Synonymous 46/48 - 2
X-153578180-C-T c.7389G>A p.S2463= Synonymous 46/48 - 4
X-153578187-G-C c.7382C>G p.A2461G Missense 46/48 - 1
X-153578188-C-A c.7381G>T p.A2461S Missense 46/48 - 1
X-153578188-C-T c.7381G>A p.A2461T Missense 46/48 - 1
X-153578190-C-T c.7379G>A p.G2460D Missense 46/48 - 2
X-153578193-G-T c.7376C>A p.A2459D Missense 46/48 - 1
X-153578194-C-T c.7375G>A p.A2459T Missense 46/48 - 1
X-153578198-C-A c.7371G>T p.A2457= Synonymous 46/48 - 1
X-153578198-C-G c.7371G>C p.A2457= Synonymous 46/48 - 1
X-153578198-C-T c.7371G>A p.A2457= Synonymous 46/48 - 3
X-153578199-G-A c.7370C>T p.A2457V Missense 46/48 - 1
X-153578200-C-A c.7369G>T p.A2457S Missense 46/48 - 1
X-153578201-A-G c.7368T>C p.N2456= Synonymous 46/48 - 1
X-153578202-T-C c.7367A>G p.N2456S Missense 46/48 - 1
X-153578204-G-C c.7365C>G p.S2455R Missense 46/48 - 1
X-153578208-G-A c.7361C>T p.T2454M Missense 46/48 - 1
X-153578209-T-A c.7360A>T p.T2454S Missense 46/48 - 3
X-153578215-C-T c.7354G>A p.V2452M Missense 46/48 - 2
X-153578216-G-A c.7353C>T p.V2451= Synonymous 46/48 - 1
X-153578218-C-A c.7351G>T p.V2451F Missense 46/48 - 1
X-153578218-C-T c.7351G>A p.V2451I Missense 46/48 - 2
X-153578219-G-A c.7350C>T p.F2450= Synonymous 46/48 - 1
X-153578219-G-C c.7350C>G p.F2450L Missense 46/48 - 1
X-153578219-G-T c.7350C>A p.F2450L Missense 46/48 - 1
X-153578221-A-G c.7348T>C p.F2450L Missense 46/48 - 1
X-153578224-C-T c.7345G>A p.E2449K Missense 46/48 - 1
X-153578299-A-G c.7334-64T>C - IntronicSNV - 45/47 4
X-153578398-C-T c.7333+1G>A - IntronicSNV - 45/47 1
X-153578400-TG-GT c.7331_7332delinsAC p.T2444N Missense 45/48 - 1
X-153578405-C-T c.7327G>A p.V2443I Missense 45/48 - 3
X-153578411-C-A c.7321G>T p.G2441C Missense 45/48 - 1
X-153578417-G-T c.7315C>A p.L2439M Missense 45/48 - 3
X-153578423-C-T c.7309G>A p.A2437T Missense 45/48 - 1
X-153578425-C-G c.7307G>C p.G2436A Missense 45/48 - 1
X-153578434-GA-TT c.7297_7298delinsAA p.S2433N Missense 45/48 - 1
X-153578438-C-T c.7294G>A p.V2432M Missense 45/48 - 1
X-153578444-C-T c.7288G>A p.G2430S Missense 45/48 - 1
X-153578445-TGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGG-T c.7244_7286del p.P2415Qfs*24 Frameshift 45/48 - 1
X-153578448-G-A c.7284C>T p.D2428= Synonymous 45/48 - 1
X-153578450-C-T c.7282G>A p.D2428N Missense 45/48 - 1
X-153578455-C-T c.7277G>A p.G2426E Missense 45/48 - 1
X-153578459-G-A c.7273C>T p.H2425Y Missense 45/48 - 2
X-153578465-G-A c.7267C>T p.P2423S Missense 45/48 - 3
X-153578473-A-G c.7259T>C p.V2420A Missense 45/48 - 2
X-153578474-C-A c.7258G>T p.V2420F Missense 45/48 - 1
X-153578474-C-T c.7258G>A p.V2420I Missense 45/48 - 1
X-153578476-C-G c.7256G>C p.R2419P Missense 45/48 - 1
X-153578476-C-T c.7256G>A p.R2419Q Missense 45/48 - 1
X-153578477-G-A c.7255C>T p.R2419* Nonsense 45/48 - 2
X-153578478-G-C c.7254C>G p.I2418M Missense 45/48 - 1
X-153578479-A-G c.7253T>C p.I2418T Missense 45/48 - 1
X-153578485-A-T c.7247T>A p.F2416Y Missense 45/48 - 1
X-153578489-G-A c.7243C>T p.P2415S Missense 45/48 - 4
X-153578489-G-T c.7243C>A p.P2415T Missense 45/48 - 1
X-153578497-G-A c.7235C>T p.P2412L Missense 45/48 - 1
X-153578508-G-A c.7224C>T p.G2408= Synonymous 45/48 - 1
X-153578509-C-G c.7223G>C p.G2408A Missense 45/48 - 1
X-153578509-C-T c.7223G>A p.G2408D Missense 45/48 - 1
X-153578508-GC-G c.7223del p.G2408Afs*45 Frameshift 45/48 - 1
X-153578510-C-T c.7222G>A p.G2408S Missense 45/48 - 3
X-153578511-G-A c.7221C>T p.N2407= Synonymous 45/48 - 4
X-153578514-G-A c.7218C>T p.F2406= Synonymous 45/48 - 1
X-153578517-C-A c.7215G>T p.K2405N Missense 45/48 - 1
X-153578524-T-C c.7208A>G p.D2403G Missense 45/48 - 3
X-153578530-A-G c.7202T>C p.L2401P Missense 45/48 - 1
X-153578531-G-C c.7201C>G p.L2401V Missense 45/48 - 1
X-153578532-G-A c.7200C>T p.Y2400= Synonymous 45/48 - 1
X-153578536-A-G c.7196T>C p.V2399A Missense 45/48 - 1
X-153578537-C-T c.7195G>A p.V2399I Missense 45/48 - 2
X-153578538-G-A c.7194C>T p.G2398= Synonymous 45/48 - 2
X-153578538-G-C c.7194C>G p.G2398= Synonymous 45/48 - 1
X-153578538-G-T c.7194C>A p.G2398= Synonymous 45/48 - 1
X-153578548-C-T c.7184G>A p.R2395Q Missense 45/48 - 1
X-153578549-G-A c.7183C>T p.R2395W Missense 45/48 - 1
X-153578553-G-A c.7179C>T p.I2393= Synonymous 45/48 - 2
X-153578558-A-G c.7174T>C p.F2392L Missense 45/48 - 1
X-153578560-C-T c.7172G>A p.R2391H Missense 45/48 - 2
X-153578561-G-C c.7171C>G p.R2391G Missense 45/48 - 1
X-153578561-G-T c.7171C>A p.R2391S Missense 45/48 - 1
X-153578566-G-A c.7166C>T p.A2389V Missense 45/48 - 2
X-153578568-A-C c.7164T>G p.Y2388* Nonsense 45/48 - 2
X-153578568-A-T c.7164T>A p.Y2388* Nonsense 45/48 - 2
X-153578575-T-C c.7157A>G p.D2386G Missense 45/48 - 1
X-153579274-C-T c.7156+3G>A - IntronicSNV - 44/47 1
X-153579280-G-A c.7153C>T p.Q2385* Nonsense 44/48 - 1
X-153579283-C-T c.7150G>A p.D2384N Missense 44/48 - 2
X-153579289-C-A c.7144G>T p.E2382* Nonsense 44/48 - 1
X-153579293-G-T c.7140C>A p.V2380= Synonymous 44/48 - 2
X-153579297-T-C c.7136A>G p.Y2379C Missense 44/48 - 1
X-153579298-A-G c.7135T>C p.Y2379H Missense 44/48 - 1
X-153579299-G-A c.7134C>T p.C2378= Synonymous 44/48 - 1
X-153579299-G-T c.7134C>A p.C2378* Nonsense 44/48 - 2
X-153579311-G-C c.7122C>G p.A2374= Synonymous 44/48 - 1
X-153579315-C-T c.7118G>A p.G2373E Missense 44/48 - 1
X-153579318-G-A c.7115C>T p.S2372L Missense 44/48 - 5
X-153579318-G-C c.7115C>G p.S2372* Nonsense 44/48 - 1
X-153579321-G-A c.7112C>T p.P2371L Missense 44/48 - 5
X-153579321-GG-AA c.7111_7112delinsTT p.P2371F Missense 44/48 - 1
X-153579323-GCTGT-A c.7106_7110delinsT p.H2369Lfs*32 Frameshift 44/48 - 1
X-153579328-G-A c.7105C>T p.H2369Y Missense 44/48 - 3
X-153579328-TGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGA-T c.7064_7105del p.V2355_H2369delinsD MultiAAMissense 44/48 - 1
X-153579331-C-T c.7102G>A p.V2368M Missense 44/48 - 1
X-153579341-G-A c.7092C>T p.I2364= Synonymous 44/48 - 1
X-153579341-G-T c.7092C>A p.I2364= Synonymous 44/48 - 1
X-153579344-C-T c.7089G>A p.A2363= Synonymous 44/48 - 1
X-153579345-G-A c.7088C>T p.A2363V Missense 44/48 - 2
X-153579356-CCC-A c.7075_7077delinsT p.G2359Cfs*25 Frameshift 44/48 - 1
X-153579356-C-T c.7077G>A p.G2359= Synonymous 44/48 - 1
X-153579357-C-A c.7076G>T p.G2359V Missense 44/48 - 1
X-153579358-C-T c.7075G>A p.G2359R Missense 44/48 - 1
X-153579359-G-A c.7074C>T p.N2358= Synonymous 44/48 - 1
X-153579365-G-A c.7068C>T p.S2356= Synonymous 44/48 - 1
X-153579367-T-G c.7066A>C p.S2356R Missense 44/48 - 1
X-153579366-C-T c.7067G>A p.S2356N Missense 44/48 - 1
X-153579362-CAGGCTGACTGCAAAAG-C c.7055_7070del p.S2352* Frameshift 44/48 - 1
X-153579370-C-T c.7063G>A p.V2355I Missense 44/48 - 2
X-153579371-T-A c.7062A>T p.A2354= Synonymous 44/48 - 1
X-153579371-T-C c.7062A>G p.A2354= Synonymous 44/48 - 2
X-153579371-T-G c.7062A>C p.A2354= Synonymous 44/48 - 1
X-153579372-TG-T c.7061del p.A2354Efs*4 Frameshift 44/48 - 1
X-153579375-A-G c.7058T>C p.F2353S Missense 44/48 - 3
X-153579377-AG-TT c.7055_7056delinsAA p.S2352* Nonsense 44/48 - 1
X-153579378-G-A c.7055C>T p.S2352F Missense 44/48 - 1
X-153579378-G-T c.7055C>A p.S2352Y Missense 44/48 - 1
X-153579380-G-A c.7053C>T p.A2351= Synonymous 44/48 - 1
X-153579380-G-T c.7053C>A p.A2351= Synonymous 44/48 - 1
X-153579385-G-C c.7048C>G p.P2350A Missense 44/48 - 2
X-153579385-G-T c.7048C>A p.P2350T Missense 44/48 - 1
X-153579386-C-T c.7047G>A p.Q2349= Synonymous 44/48 - 1
X-153579388-G-A c.7045C>T p.Q2349* Nonsense 44/48 - 1
X-153579390-T-C c.7043A>G p.N2348S Missense 44/48 - 1
X-153579391-T-C c.7042A>G p.N2348D Missense 44/48 - 1
X-153579399-A-G c.7034T>C p.L2345P Missense 44/48 - 1
X-153579448-A-G c.7024-39T>C - IntronicSNV - 43/47 7
X-153579947-A-G c.7023+2T>C - IntronicSNV - 43/47 1
X-153579950-T-A c.7022A>T p.Q2341L Missense 43/48 - 2
X-153579950-T-C c.7022A>G p.Q2341R Missense 43/48 - 13
X-153579951-G-A c.7021C>T p.Q2341* Nonsense 43/48 - 2
X-153579955-G-A c.7017C>T p.S2339= Synonymous 43/48 - 2
X-153579957-T-C c.7015A>G p.S2339G Missense 43/48 - 2
X-153579971-C-T c.7001G>A p.R2334H Missense 43/48 - 1
X-153579972-G-A c.7000C>T p.R2334C Missense 43/48 - 4
X-153579974-C-T c.6998G>A p.R2333H Missense 43/48 - 1
X-153579975-G-A c.6997C>T p.R2333C Missense 43/48 - 2
X-153579977-G-A c.6995C>T p.A2332V Missense 43/48 - 1
X-153579981-C-T c.6991G>A p.D2331N Missense 43/48 - 2
X-153579986-G-A c.6986C>T p.S2329F Missense 43/48 - 2
X-153579986-GA-AG c.6985_6986delinsCT p.S2329L Missense 43/48 - 2
X-153579989-G-A c.6983C>T p.P2328L Missense 43/48 - 2
X-153579990-G-T c.6982C>A p.P2328T Missense 43/48 - 1
X-153579994-AGC-CAT c.6976_6978delinsATG p.A2326M Missense 43/48 - 1
X-153579994-AGC-CCA c.6976_6978delinsTGG p.A2326W Missense 43/48 - 1
X-153579994-AGC-CTT c.6976_6978delinsAAG p.A2326K Missense 43/48 - 1
X-153579994-AG-CT c.6977_6978inv p.A2326E Missense 43/48 - 1
X-153579994-AGC-TTG c.6976_6978delinsCAA p.A2326Q Missense 43/48 - 1
X-153579995-G-A c.6977C>T p.A2326V Missense 43/48 - 1
X-153579995-G-C c.6977C>G p.A2326G Missense 43/48 - 1
X-153579995-GC-AA c.6976_6977delinsTT p.A2326F Missense 43/48 - 1
X-153579995-GC-AG c.6976_6977delinsCT p.A2326L Missense 43/48 - 1
X-153579995-GC-AT c.6976_6977delinsAT p.A2326I Missense 43/48 - 1
X-153579995-GC-CA c.6976_6977delinsTG p.A2326C Missense 43/48 - 1
X-153579995-GC-CG c.6976_6977delinsCG p.A2326R Missense 43/48 - 1
X-153579995-GC-TA c.6976_6977delinsTA p.A2326Y Missense 43/48 - 1
X-153579995-GC-TG c.6976_6977delinsCA p.A2326H Missense 43/48 - 1
X-153579995-GC-TT c.6976_6977delinsAA p.A2326N Missense 43/48 - 1
X-153579995-G-T c.6977C>A p.A2326D Missense 43/48 - 1
X-153579996-C-A c.6976G>T p.A2326S Missense 43/48 - 1
X-153579996-C-G c.6976G>C p.A2326P Missense 43/48 - 1
X-153579996-C-T c.6976G>A p.A2326T Missense 43/48 - 1
X-153579997-CAC-AAA c.6973_6975delinsTTT p.V2325F Missense 43/48 - 1
X-153579997-CAC-ACA c.6973_6975delinsTGT p.V2325C Missense 43/48 - 1
X-153579997-CAC-ATA c.6973_6975delinsTAT p.V2325Y Missense 43/48 - 1
X-153579997-CAC-ATG c.6973_6975delinsCAT p.V2325H Missense 43/48 - 1
X-153579997-CAC-GAT c.6973_6975delinsATC p.V2325I Missense 43/48 - 1
X-153579997-CAC-GTT c.6973_6975delinsAAC p.V2325N Missense 43/48 - 1
X-153579997-CA-GT c.6974_6975delinsAC p.V2325D Missense 43/48 - 1
X-153579998-A-C c.6974T>G p.V2325G Missense 43/48 - 1
X-153579998-AC-CA c.6973_6974delinsTG p.V2325W Missense 43/48 - 1
X-153579998-AC-CT c.6973_6974delinsAG p.V2325R Missense 43/48 - 1
X-153579998-AC-GA c.6973_6974delinsTC p.V2325S Missense 43/48 - 1
X-153579998-AC-GG c.6973_6974delinsCC p.V2325P Missense 43/48 - 1
X-153579998-AC-GT c.6973_6974inv p.V2325T Missense 43/48 - 1
X-153579998-AC-TG c.6973_6974delinsCA p.V2325Q Missense 43/48 - 1
X-153579998-AC-TT c.6973_6974delinsAA p.V2325K Missense 43/48 - 1
X-153579998-A-G c.6974T>C p.V2325A Missense 43/48 - 1
X-153579998-A-T c.6974T>A p.V2325E Missense 43/48 - 1
X-153579999-C-A c.6973G>T p.V2325L Missense 43/48 - 1
X-153579999-C-G c.6973G>C p.V2325L Missense 43/48 - 1
X-153579999-C-T c.6973G>A p.V2325M Missense 43/48 - 2
X-153580000-AGG-CAT c.6970_6972delinsATG p.P2324M Missense 43/48 - 1
X-153580000-AGG-CCA c.6970_6972delinsTGG p.P2324W Missense 43/48 - 1
X-153580000-AGG-CTC c.6970_6972delinsGAG p.P2324E Missense 43/48 - 1
X-153580000-AGG-CTT c.6970_6972delinsAAG p.P2324K Missense 43/48 - 1
X-153580000-AGG-TTA c.6970_6972delinsTAA p.P2324* Nonsense 43/48 - 1
X-153580000-AG-TT c.6971_6972delinsAA p.P2324Q Missense 43/48 - 1
X-153580001-G-A c.6971C>T p.P2324L Missense 43/48 - 2
X-153580001-G-C c.6971C>G p.P2324R Missense 43/48 - 1
X-153580001-GG-AA c.6970_6971delinsTT p.P2324F Missense 43/48 - 1
X-153580001-GG-AC c.6970_6971delinsGT p.P2324V Missense 43/48 - 1
X-153580001-GG-AT c.6970_6971delinsAT p.P2324I Missense 43/48 - 1
X-153580001-GG-CA c.6970_6971delinsTG p.P2324C Missense 43/48 - 1
X-153580001-GG-CC c.6970_6971inv p.P2324G Missense 43/48 - 1
X-153580001-GG-TA c.6970_6971delinsTA p.P2324Y Missense 43/48 - 1
X-153580001-GG-TC c.6970_6971delinsGA p.P2324D Missense 43/48 - 1
X-153580001-GG-TT c.6970_6971delinsAA p.P2324N Missense 43/48 - 1
X-153580001-G-T c.6971C>A p.P2324H Missense 43/48 - 1
X-153580002-G-A c.6970C>T p.P2324S Missense 43/48 - 1
X-153580002-G-C c.6970C>G p.P2324A Missense 43/48 - 1
X-153580002-G-T c.6970C>A p.P2324T Missense 43/48 - 1
X-153580003-CAC-AAA c.6967_6969delinsTTT p.V2323F Missense 43/48 - 1
X-153580003-CAC-ACA c.6967_6969delinsTGT p.V2323C Missense 43/48 - 1
X-153580003-CAC-ATA c.6967_6969delinsTAT p.V2323Y Missense 43/48 - 1
X-153580003-CAC-ATG c.6967_6969delinsCAT p.V2323H Missense 43/48 - 1
X-153580003-CAC-GAT c.6967_6969delinsATC p.V2323I Missense 43/48 - 1
X-153580003-CAC-GTT c.6967_6969delinsAAC p.V2323N Missense 43/48 - 1
X-153580003-CA-GT c.6968_6969delinsAC p.V2323D Missense 43/48 - 1
X-153580004-A-C c.6968T>G p.V2323G Missense 43/48 - 1
X-153580004-AC-CA c.6967_6968delinsTG p.V2323W Missense 43/48 - 1
X-153580004-AC-CT c.6967_6968delinsAG p.V2323R Missense 43/48 - 1
X-153580004-AC-GA c.6967_6968delinsTC p.V2323S Missense 43/48 - 1
X-153580004-AC-GG c.6967_6968delinsCC p.V2323P Missense 43/48 - 1
X-153580004-AC-GT c.6967_6968inv p.V2323T Missense 43/48 - 1
X-153580004-AC-TG c.6967_6968delinsCA p.V2323Q Missense 43/48 - 1
X-153580004-AC-TT c.6967_6968delinsAA p.V2323K Missense 43/48 - 1
X-153580004-A-G c.6968T>C p.V2323A Missense 43/48 - 1
X-153580004-A-T c.6968T>A p.V2323E Missense 43/48 - 1
X-153580005-C-A c.6967G>T p.V2323L Missense 43/48 - 1
X-153580005-C-G c.6967G>C p.V2323L Missense 43/48 - 1
X-153580005-C-T c.6967G>A p.V2323M Missense 43/48 - 1
X-153580006-CAC-AAA c.6964_6966delinsTTT p.V2322F Missense 43/48 - 1
X-153580006-CAC-ACA c.6964_6966delinsTGT p.V2322C Missense 43/48 - 1
X-153580006-CAC-ATA c.6964_6966delinsTAT p.V2322Y Missense 43/48 - 1
X-153580006-CAC-ATG c.6964_6966delinsCAT p.V2322H Missense 43/48 - 1
X-153580006-CAC-GAT c.6964_6966delinsATC p.V2322I Missense 43/48 - 1
X-153580006-CAC-GTT c.6964_6966delinsAAC p.V2322N Missense 43/48 - 1
X-153580006-CA-GT c.6965_6966delinsAC p.V2322D Missense 43/48 - 1
X-153580007-A-C c.6965T>G p.V2322G Missense 43/48 - 1
X-153580007-AC-CA c.6964_6965delinsTG p.V2322W Missense 43/48 - 1
X-153580007-AC-CT c.6964_6965delinsAG p.V2322R Missense 43/48 - 1
X-153580007-AC-GA c.6964_6965delinsTC p.V2322S Missense 43/48 - 1
X-153580007-AC-GG c.6964_6965delinsCC p.V2322P Missense 43/48 - 1
X-153580007-AC-GT c.6964_6965inv p.V2322T Missense 43/48 - 1
X-153580007-AC-TG c.6964_6965delinsCA p.V2322Q Missense 43/48 - 1
X-153580007-AC-TT c.6964_6965delinsAA p.V2322K Missense 43/48 - 1
X-153580007-A-G c.6965T>C p.V2322A Missense 43/48 - 1
X-153580007-A-T c.6965T>A p.V2322E Missense 43/48 - 1
X-153580008-C-A c.6964G>T p.V2322L Missense 43/48 - 1
X-153580008-C-G c.6964G>C p.V2322L Missense 43/48 - 1
X-153580008-C-T c.6964G>A p.V2322M Missense 43/48 - 2
X-153580009-G-A c.6963C>T p.F2321= Synonymous 43/48 - 3
X-153580009-GAA-CAT c.6961_6963delinsATG p.F2321M Missense 43/48 - 1
X-153580009-GAA-CTC c.6961_6963delinsGAG p.F2321E Missense 43/48 - 1
X-153580009-GAA-CTT c.6961_6963delinsAAG p.F2321K Missense 43/48 - 1
X-153580009-GAA-TTG c.6961_6963delinsCAA p.F2321Q Missense 43/48 - 1
X-153580009-GA-CC c.6962_6963delinsGG p.F2321W Missense 43/48 - 1
X-153580010-AA-CC c.6961_6962delinsGG p.F2321G Missense 43/48 - 1
X-153580010-AA-CG c.6961_6962delinsCG p.F2321R Missense 43/48 - 1
X-153580010-AA-GC c.6961_6962delinsGC p.F2321A Missense 43/48 - 1
X-153580010-AA-GG c.6961_6962delinsCC p.F2321P Missense 43/48 - 1
X-153580010-AA-GT c.6961_6962delinsAC p.F2321T Missense 43/48 - 1
X-153580010-AA-TC c.6961_6962delinsGA p.F2321D Missense 43/48 - 1
X-153580010-AA-TG c.6961_6962delinsCA p.F2321H Missense 43/48 - 1
X-153580010-AA-TT c.6961_6962inv p.F2321N Missense 43/48 - 1
X-153580010-A-C c.6962T>G p.F2321C Missense 43/48 - 1
X-153580010-A-G c.6962T>C p.F2321S Missense 43/48 - 1
X-153580010-A-T c.6962T>A p.F2321Y Missense 43/48 - 1
X-153580009-G-C c.6963C>G p.F2321L Missense 43/48 - 1
X-153580009-G-T c.6963C>A p.F2321L Missense 43/48 - 1
X-153580011-A-C c.6961T>G p.F2321V Missense 43/48 - 1
X-153580011-A-G c.6961T>C p.F2321L Missense 43/48 - 1
X-153580011-A-T c.6961T>A p.F2321I Missense 43/48 - 1
X-153580012-GGG-CAT c.6958_6960delinsATG p.P2320M Missense 43/48 - 1
X-153580012-GGG-CCA c.6958_6960delinsTGG p.P2320W Missense 43/48 - 1
X-153580012-GGG-CTC c.6958_6960delinsGAG p.P2320E Missense 43/48 - 1
X-153580012-GGG-CTT c.6958_6960delinsAAG p.P2320K Missense 43/48 - 1
X-153580012-GG-TT c.6959_6960delinsAA p.P2320Q Missense 43/48 - 1
X-153580013-G-A c.6959C>T p.P2320L Missense 43/48 - 1
X-153580013-G-C c.6959C>G p.P2320R Missense 43/48 - 1
X-153580013-GG-AA c.6958_6959delinsTT p.P2320F Missense 43/48 - 1
X-153580013-GG-AC c.6958_6959delinsGT p.P2320V Missense 43/48 - 1
X-153580013-GG-AT c.6958_6959delinsAT p.P2320I Missense 43/48 - 1
X-153580013-GG-CA c.6958_6959delinsTG p.P2320C Missense 43/48 - 1
X-153580013-GG-CC c.6958_6959inv p.P2320G Missense 43/48 - 1
X-153580013-GG-TA c.6958_6959delinsTA p.P2320Y Missense 43/48 - 1
X-153580013-GG-TC c.6958_6959delinsGA p.P2320D Missense 43/48 - 1
X-153580013-GG-TT c.6958_6959delinsAA p.P2320N Missense 43/48 - 1
X-153580013-G-T c.6959C>A p.P2320H Missense 43/48 - 1
X-153580014-G-A c.6958C>T p.P2320S Missense 43/48 - 1
X-153580014-G-C c.6958C>G p.P2320A Missense 43/48 - 1
X-153580014-G-T c.6958C>A p.P2320T Missense 43/48 - 1
X-153580015-G-A c.6957C>T p.S2319= Synonymous 43/48 - 1
X-153580015-G-C c.6957C>G p.S2319R Missense 43/48 - 1
X-153580015-GC-CA c.6956_6957delinsTG p.S2319M Missense 43/48 - 1
X-153580015-GC-CT c.6956_6957delinsAG p.S2319K Missense 43/48 - 1
X-153580015-GCT-CCA c.6955_6957delinsTGG p.S2319W Missense 43/48 - 1
X-153580015-GCT-CTC c.6955_6957delinsGAG p.S2319E Missense 43/48 - 1
X-153580015-GCT-TTG c.6955_6957delinsCAA p.S2319Q Missense 43/48 - 1
X-153580015-G-T c.6957C>A p.S2319R Missense 43/48 - 1
X-153580017-T-G c.6955A>C p.S2319R Missense 43/48 - 1
X-153580016-C-A c.6956G>T p.S2319I Missense 43/48 - 1
X-153580016-C-G c.6956G>C p.S2319T Missense 43/48 - 1
X-153580016-C-T c.6956G>A p.S2319N Missense 43/48 - 1
X-153580016-CT-AA c.6955_6956delinsTT p.S2319F Missense 43/48 - 1
X-153580016-CT-AC c.6955_6956delinsGT p.S2319V Missense 43/48 - 1
X-153580016-CT-AG c.6955_6956inv p.S2319L Missense 43/48 - 1
X-153580016-CT-GC c.6955_6956delinsGC p.S2319A Missense 43/48 - 1
X-153580016-CT-GG c.6955_6956delinsCC p.S2319P Missense 43/48 - 1
X-153580016-CT-TA c.6955_6956delinsTA p.S2319Y Missense 43/48 - 1
X-153580016-CT-TC c.6955_6956delinsGA p.S2319D Missense 43/48 - 1
X-153580016-CT-TG c.6955_6956delinsCA p.S2319H Missense 43/48 - 1
X-153580017-T-A c.6955A>T p.S2319C Missense 43/48 - 1
X-153580017-T-C c.6955A>G p.S2319G Missense 43/48 - 1
X-153580018-G-C c.6954C>G p.D2318E Missense 43/48 - 1
X-153580018-G-T c.6954C>A p.D2318E Missense 43/48 - 1
X-153580018-GTC-CAT c.6952_6954delinsATG p.D2318M Missense 43/48 - 1
X-153580018-GTC-CCA c.6952_6954delinsTGG p.D2318W Missense 43/48 - 1
X-153580018-GTC-CTT c.6952_6954delinsAAG p.D2318K Missense 43/48 - 1
X-153580018-GTC-TTG c.6952_6954delinsCAA p.D2318Q Missense 43/48 - 1
X-153580019-T-A c.6953A>T p.D2318V Missense 43/48 - 1
X-153580019-T-C c.6953A>G p.D2318G Missense 43/48 - 1
X-153580019-TC-AA c.6952_6953delinsTT p.D2318F Missense 43/48 - 1
X-153580019-TC-AG c.6952_6953delinsCT p.D2318L Missense 43/48 - 1
X-153580019-TC-AT c.6952_6953delinsAT p.D2318I Missense 43/48 - 1
X-153580019-TC-CA c.6952_6953delinsTG p.D2318C Missense 43/48 - 1
X-153580019-TC-CG c.6952_6953delinsCG p.D2318R Missense 43/48 - 1
X-153580019-TC-CT c.6952_6953delinsAG p.D2318S Missense 43/48 - 1
X-153580019-TC-GG c.6952_6953delinsCC p.D2318P Missense 43/48 - 1
X-153580019-TC-GT c.6952_6953delinsAC p.D2318T Missense 43/48 - 1
X-153580019-T-G c.6953A>C p.D2318A Missense 43/48 - 1
X-153580020-C-A c.6952G>T p.D2318Y Missense 43/48 - 1
X-153580020-C-G c.6952G>C p.D2318H Missense 43/48 - 1
X-153580020-C-T c.6952G>A p.D2318N Missense 43/48 - 1
X-153580021-GGG-CAT c.6949_6951delinsATG p.P2317M Missense 43/48 - 1
X-153580021-GGG-CCA c.6949_6951delinsTGG p.P2317W Missense 43/48 - 1
X-153580021-GGG-CTC c.6949_6951delinsGAG p.P2317E Missense 43/48 - 1
X-153580021-GGG-CTT c.6949_6951delinsAAG p.P2317K Missense 43/48 - 1
X-153580021-GGG-TTA c.6949_6951delinsTAA p.P2317* Nonsense 43/48 - 1
X-153580021-GG-TT c.6950_6951delinsAA p.P2317Q Missense 43/48 - 1
X-153580022-G-A c.6950C>T p.P2317L Missense 43/48 - 1
X-153580022-G-C c.6950C>G p.P2317R Missense 43/48 - 1
X-153580022-GG-AA c.6949_6950delinsTT p.P2317F Missense 43/48 - 1
X-153580022-GG-AC c.6949_6950delinsGT p.P2317V Missense 43/48 - 1
X-153580022-GG-AT c.6949_6950delinsAT p.P2317I Missense 43/48 - 1
X-153580022-GG-CA c.6949_6950delinsTG p.P2317C Missense 43/48 - 1
X-153580022-GG-CC c.6949_6950inv p.P2317G Missense 43/48 - 1
X-153580022-GG-TA c.6949_6950delinsTA p.P2317Y Missense 43/48 - 1
X-153580022-GG-TC c.6949_6950delinsGA p.P2317D Missense 43/48 - 1
X-153580022-GG-TT c.6949_6950delinsAA p.P2317N Missense 43/48 - 1
X-153580022-G-T c.6950C>A p.P2317H Missense 43/48 - 1
X-153580023-G-A c.6949C>T p.P2317S Missense 43/48 - 1
X-153580023-G-C c.6949C>G p.P2317A Missense 43/48 - 2
X-153580023-G-T c.6949C>A p.P2317T Missense 43/48 - 1
X-153580024-AA-CC c.6947_6948delinsGG p.I2316R Missense 43/48 - 1
X-153580024-AA-CT c.6947_6948delinsAG p.I2316K Missense 43/48 - 1
X-153580024-AAT-CCA c.6946_6948delinsTGG p.I2316W Missense 43/48 - 1
X-153580024-AAT-CTC c.6946_6948delinsGAG p.I2316E Missense 43/48 - 1
X-153580024-AAT-TTG c.6946_6948delinsCAA p.I2316Q Missense 43/48 - 1
X-153580024-A-C c.6948T>G p.I2316M Missense 43/48 - 1
X-153580025-A-C c.6947T>G p.I2316S Missense 43/48 - 1
X-153580025-A-G c.6947T>C p.I2316T Missense 43/48 - 1
X-153580025-A-T c.6947T>A p.I2316N Missense 43/48 - 1
X-153580025-AT-CA c.6946_6947delinsTG p.I2316C Missense 43/48 - 1
X-153580025-AT-CC c.6946_6947delinsGG p.I2316G Missense 43/48 - 1
X-153580025-AT-GC c.6946_6947delinsGC p.I2316A Missense 43/48 - 1
X-153580025-AT-GG c.6946_6947delinsCC p.I2316P Missense 43/48 - 1
X-153580025-AT-TA c.6946_6947delinsTA p.I2316Y Missense 43/48 - 1
X-153580025-AT-TC c.6946_6947delinsGA p.I2316D Missense 43/48 - 1
X-153580025-AT-TG c.6946_6947delinsCA p.I2316H Missense 43/48 - 1
X-153580026-T-A c.6946A>T p.I2316F Missense 43/48 - 1
X-153580026-T-C c.6946A>G p.I2316V Missense 43/48 - 1
X-153580026-T-G c.6946A>C p.I2316L Missense 43/48 - 1
X-153580027-G-C c.6945C>G p.H2315Q Missense 43/48 - 1
X-153580027-G-T c.6945C>A p.H2315Q Missense 43/48 - 1
X-153580027-GTG-CAT c.6943_6945delinsATG p.H2315M Missense 43/48 - 1
X-153580027-GTG-CCA c.6943_6945delinsTGG p.H2315W Missense 43/48 - 1
X-153580027-GTG-CTC c.6943_6945delinsGAG p.H2315E Missense 43/48 - 1
X-153580027-GTG-CTT c.6943_6945delinsAAG p.H2315K Missense 43/48 - 1
X-153580028-T-A c.6944A>T p.H2315L Missense 43/48 - 1
X-153580028-T-C c.6944A>G p.H2315R Missense 43/48 - 1
X-153580028-T-G c.6944A>C p.H2315P Missense 43/48 - 1
X-153580028-TG-AA c.6943_6944delinsTT p.H2315F Missense 43/48 - 1
X-153580028-TG-AC c.6943_6944delinsGT p.H2315V Missense 43/48 - 1
X-153580028-TG-AT c.6943_6944delinsAT p.H2315I Missense 43/48 - 1
X-153580028-TG-CA c.6943_6944inv p.H2315C Missense 43/48 - 1
X-153580028-TG-CC c.6943_6944delinsGG p.H2315G Missense 43/48 - 1
X-153580028-TG-CT c.6943_6944delinsAG p.H2315S Missense 43/48 - 1
X-153580028-TG-GC c.6943_6944delinsGC p.H2315A Missense 43/48 - 1
X-153580028-TG-GT c.6943_6944delinsAC p.H2315T Missense 43/48 - 1
X-153580029-G-A c.6943C>T p.H2315Y Missense 43/48 - 1
X-153580029-G-C c.6943C>G p.H2315D Missense 43/48 - 1
X-153580029-G-T c.6943C>A p.H2315N Missense 43/48 - 1
X-153580030-T-A c.6942A>T p.E2314D Missense 43/48 - 1
X-153580030-T-G c.6942A>C p.E2314D Missense 43/48 - 1
X-153580030-TTC-AAA c.6940_6942delinsTTT p.E2314F Missense 43/48 - 1
X-153580030-TTC-ACA c.6940_6942delinsTGT p.E2314C Missense 43/48 - 1
X-153580030-TTC-ATA c.6940_6942delinsTAT p.E2314Y Missense 43/48 - 1
X-153580030-TTC-ATG c.6940_6942delinsCAT p.E2314H Missense 43/48 - 1
X-153580030-TTC-CAT c.6940_6942delinsATG p.E2314M Missense 43/48 - 1
X-153580030-TTC-CCA c.6940_6942delinsTGG p.E2314W Missense 43/48 - 1
X-153580030-TTC-GTT c.6940_6942delinsAAC p.E2314N Missense 43/48 - 1
X-153580031-T-A c.6941A>T p.E2314V Missense 43/48 - 1
X-153580031-T-C c.6941A>G p.E2314G Missense 43/48 - 1
X-153580031-TC-AG c.6940_6941delinsCT p.E2314L Missense 43/48 - 1
X-153580031-TC-AT c.6940_6941delinsAT p.E2314I Missense 43/48 - 1
X-153580031-TC-CT c.6940_6941delinsAG p.E2314R Missense 43/48 - 1
X-153580031-TC-GA c.6940_6941inv p.E2314S Missense 43/48 - 1
X-153580031-TC-GG c.6940_6941delinsCC p.E2314P Missense 43/48 - 1
X-153580031-TC-GT c.6940_6941delinsAC p.E2314T Missense 43/48 - 1
X-153580031-T-G c.6941A>C p.E2314A Missense 43/48 - 1
X-153580032-C-G c.6940G>C p.E2314Q Missense 43/48 - 1
X-153580032-C-T c.6940G>A p.E2314K Missense 43/48 - 2
X-153580033-C-A c.6939G>T p.E2313D Missense 43/48 - 1
X-153580033-C-G c.6939G>C p.E2313D Missense 43/48 - 1
X-153580033-CTC-AAA c.6937_6939delinsTTT p.E2313F Missense 43/48 - 1
X-153580033-CTC-ACA c.6937_6939delinsTGT p.E2313C Missense 43/48 - 1
X-153580033-CTC-ATA c.6937_6939delinsTAT p.E2313Y Missense 43/48 - 1
X-153580033-CTC-ATG c.6937_6939delinsCAT p.E2313H Missense 43/48 - 1
X-153580033-CTC-GAT c.6937_6939delinsATC p.E2313I Missense 43/48 - 1
X-153580033-CTC-GTT c.6937_6939delinsAAC p.E2313N Missense 43/48 - 1
X-153580034-T-A c.6938A>T p.E2313V Missense 43/48 - 1
X-153580034-T-C c.6938A>G p.E2313G Missense 43/48 - 1
X-153580034-TC-AG c.6937_6938delinsCT p.E2313L Missense 43/48 - 1
X-153580034-TC-AT c.6937_6938delinsAT p.E2313M Missense 43/48 - 1
X-153580034-TC-CA c.6937_6938delinsTG p.E2313W Missense 43/48 - 1
X-153580034-TC-CT c.6937_6938delinsAG p.E2313R Missense 43/48 - 1
X-153580034-TC-GA c.6937_6938inv p.E2313S Missense 43/48 - 1
X-153580034-TC-GG c.6937_6938delinsCC p.E2313P Missense 43/48 - 1
X-153580034-TC-GT c.6937_6938delinsAC p.E2313T Missense 43/48 - 1
X-153580034-T-G c.6938A>C p.E2313A Missense 43/48 - 1
X-153580035-C-A c.6937G>T p.E2313* Nonsense 43/48 - 2
X-153580035-C-G c.6937G>C p.E2313Q Missense 43/48 - 1
X-153580035-C-T c.6937G>A p.E2313K Missense 43/48 - 1
X-153580036-G-A c.6936C>T p.N2312= Synonymous 43/48 - 1
X-153580036-G-C c.6936C>G p.N2312K Missense 43/48 - 2
X-153580036-G-T c.6936C>A p.N2312K Missense 43/48 - 1
X-153580036-GT-CA c.6935_6936delinsTG p.N2312M Missense 43/48 - 1
X-153580036-GT-CC c.6935_6936delinsGG p.N2312R Missense 43/48 - 1
X-153580036-GTT-CCA c.6934_6936delinsTGG p.N2312W Missense 43/48 - 1
X-153580036-GTT-CTC c.6934_6936delinsGAG p.N2312E Missense 43/48 - 1
X-153580036-GTT-TTG c.6934_6936delinsCAA p.N2312Q Missense 43/48 - 1
X-153580037-T-A c.6935A>T p.N2312I Missense 43/48 - 1
X-153580037-T-C c.6935A>G p.N2312S Missense 43/48 - 1
X-153580037-T-G c.6935A>C p.N2312T Missense 43/48 - 1
X-153580037-TT-AA c.6934_6935inv p.N2312F Missense 43/48 - 1
X-153580037-TT-AC c.6934_6935delinsGT p.N2312V Missense 43/48 - 1
X-153580037-TT-AG c.6934_6935delinsCT p.N2312L Missense 43/48 - 1
X-153580037-TT-CA c.6934_6935delinsTG p.N2312C Missense 43/48 - 1
X-153580037-TT-CC c.6934_6935delinsGG p.N2312G Missense 43/48 - 1
X-153580037-TT-GC c.6934_6935delinsGC p.N2312A Missense 43/48 - 1
X-153580037-TT-GG c.6934_6935delinsCC p.N2312P Missense 43/48 - 1
X-153580038-T-A c.6934A>T p.N2312Y Missense 43/48 - 1
X-153580038-T-C c.6934A>G p.N2312D Missense 43/48 - 2
X-153580038-T-G c.6934A>C p.N2312H Missense 43/48 - 1
X-153580039-G-A c.6933C>T p.F2311= Synonymous 43/48 - 1
X-153580039-GAA-CAT c.6931_6933delinsATG p.F2311M Missense 43/48 - 1
X-153580039-GAA-CTC c.6931_6933delinsGAG p.F2311E Missense 43/48 - 1
X-153580039-GAA-CTT c.6931_6933delinsAAG p.F2311K Missense 43/48 - 1
X-153580039-GAA-TTG c.6931_6933delinsCAA p.F2311Q Missense 43/48 - 1
X-153580039-GA-CC c.6932_6933delinsGG p.F2311W Missense 43/48 - 1
X-153580040-AA-CC c.6931_6932delinsGG p.F2311G Missense 43/48 - 1
X-153580040-AA-CG c.6931_6932delinsCG p.F2311R Missense 43/48 - 1
X-153580040-AA-GC c.6931_6932delinsGC p.F2311A Missense 43/48 - 1
X-153580040-AA-GG c.6931_6932delinsCC p.F2311P Missense 43/48 - 1
X-153580040-AA-GT c.6931_6932delinsAC p.F2311T Missense 43/48 - 1
X-153580040-AA-TC c.6931_6932delinsGA p.F2311D Missense 43/48 - 1
X-153580040-AA-TG c.6931_6932delinsCA p.F2311H Missense 43/48 - 1
X-153580040-AA-TT c.6931_6932inv p.F2311N Missense 43/48 - 1
X-153580040-A-C c.6932T>G p.F2311C Missense 43/48 - 1
X-153580040-A-G c.6932T>C p.F2311S Missense 43/48 - 1
X-153580040-A-T c.6932T>A p.F2311Y Missense 43/48 - 1
X-153580039-G-C c.6933C>G p.F2311L Missense 43/48 - 1
X-153580039-G-T c.6933C>A p.F2311L Missense 43/48 - 1
X-153580041-A-C c.6931T>G p.F2311V Missense 43/48 - 1
X-153580041-A-G c.6931T>C p.F2311L Missense 43/48 - 1
X-153580041-A-T c.6931T>A p.F2311I Missense 43/48 - 1
X-153580042-C-A c.6930G>T p.K2310N Missense 43/48 - 1
X-153580042-C-G c.6930G>C p.K2310N Missense 43/48 - 1
X-153580042-CT-GA c.6929_6930delinsTC p.K2310I Missense 43/48 - 1
X-153580042-CT-GC c.6929_6930delinsGC p.K2310S Missense 43/48 - 1
X-153580042-CTT-AAA c.6928_6930delinsTTT p.K2310F Missense 43/48 - 1
X-153580042-CTT-ACA c.6928_6930delinsTGT p.K2310C Missense 43/48 - 1
X-153580042-CTT-ATA c.6928_6930delinsTAT p.K2310Y Missense 43/48 - 1
X-153580042-CTT-ATG c.6928_6930delinsCAT p.K2310H Missense 43/48 - 1
X-153580042-CTT-GTC c.6928_6930delinsGAC p.K2310D Missense 43/48 - 1
X-153580043-T-A c.6929A>T p.K2310M Missense 43/48 - 1
X-153580043-T-C c.6929A>G p.K2310R Missense 43/48 - 1
X-153580043-T-G c.6929A>C p.K2310T Missense 43/48 - 1
X-153580043-TT-AC c.6928_6929delinsGT p.K2310V Missense 43/48 - 1
X-153580043-TT-AG c.6928_6929delinsCT p.K2310L Missense 43/48 - 1
X-153580043-TT-CA c.6928_6929delinsTG p.K2310W Missense 43/48 - 1
X-153580043-TT-CC c.6928_6929delinsGG p.K2310G Missense 43/48 - 1
X-153580043-TT-GC c.6928_6929delinsGC p.K2310A Missense 43/48 - 1
X-153580043-TT-GG c.6928_6929delinsCC p.K2310P Missense 43/48 - 1
X-153580044-T-C c.6928A>G p.K2310E Missense 43/48 - 1
X-153580044-T-G c.6928A>C p.K2310Q Missense 43/48 - 1
X-153580045-GAC-CAT c.6925_6927delinsATG p.V2309M Missense 43/48 - 1
X-153580045-GAC-CCA c.6925_6927delinsTGG p.V2309W Missense 43/48 - 1
X-153580045-GAC-CTT c.6925_6927delinsAAG p.V2309K Missense 43/48 - 1
X-153580045-GA-CT c.6926_6927delinsAG p.V2309E Missense 43/48 - 1
X-153580045-GAC-TTG c.6925_6927delinsCAA p.V2309Q Missense 43/48 - 1
X-153580046-A-C c.6926T>G p.V2309G Missense 43/48 - 1
X-153580046-AC-CA c.6925_6926delinsTG p.V2309C Missense 43/48 - 1
X-153580046-AC-CG c.6925_6926delinsCG p.V2309R Missense 43/48 - 1
X-153580046-AC-CT c.6925_6926delinsAG p.V2309S Missense 43/48 - 1
X-153580046-AC-GG c.6925_6926delinsCC p.V2309P Missense 43/48 - 1
X-153580046-AC-GT c.6925_6926inv p.V2309T Missense 43/48 - 1
X-153580046-AC-TA c.6925_6926delinsTA p.V2309Y Missense 43/48 - 1
X-153580046-AC-TG c.6925_6926delinsCA p.V2309H Missense 43/48 - 1
X-153580046-AC-TT c.6925_6926delinsAA p.V2309N Missense 43/48 - 1
X-153580046-A-G c.6926T>C p.V2309A Missense 43/48 - 1
X-153580046-A-T c.6926T>A p.V2309D Missense 43/48 - 1
X-153580047-C-A c.6925G>T p.V2309F Missense 43/48 - 1
X-153580047-C-CA c.6924_6925insT p.V2309Cfs*31 Frameshift 43/48 - 1
X-153580047-C-G c.6925G>C p.V2309L Missense 43/48 - 1
X-153580047-C-T c.6925G>A p.V2309I Missense 43/48 - 1
X-153580048-TG-AA c.6923_6924delinsTT p.S2308F Missense 43/48 - 1
X-153580048-TGA-ATG c.6922_6924delinsCAT p.S2308H Missense 43/48 - 1
X-153580048-TG-AC c.6923_6924delinsGT p.S2308C Missense 43/48 - 1
X-153580048-TGA-CAT c.6922_6924delinsATG p.S2308M Missense 43/48 - 1
X-153580048-TGA-GTC c.6922_6924delinsGAC p.S2308D Missense 43/48 - 1
X-153580048-TGA-GTT c.6922_6924delinsAAC p.S2308N Missense 43/48 - 1
X-153580048-TG-AT c.6923_6924delinsAT p.S2308Y Missense 43/48 - 1
X-153580048-TG-CC c.6923_6924delinsGG p.S2308W Missense 43/48 - 1
X-153580049-G-A c.6923C>T p.S2308L Missense 43/48 - 2
X-153580049-GA-AC c.6922_6923delinsGT p.S2308V Missense 43/48 - 1
X-153580049-GA-AT c.6922_6923delinsAT p.S2308I Missense 43/48 - 1
X-153580049-GA-CC c.6922_6923delinsGG p.S2308G Missense 43/48 - 1
X-153580049-GA-CT c.6922_6923delinsAG p.S2308R Missense 43/48 - 1
X-153580049-GA-TC c.6922_6923inv p.S2308E Missense 43/48 - 1
X-153580049-GA-TG c.6922_6923delinsCA p.S2308Q Missense 43/48 - 1
X-153580049-GA-TT c.6922_6923delinsAA p.S2308K Missense 43/48 - 1
X-153580050-A-C c.6922T>G p.S2308A Missense 43/48 - 1
X-153580050-A-G c.6922T>C p.S2308P Missense 43/48 - 1
X-153580050-A-T c.6922T>A p.S2308T Missense 43/48 - 1
X-153580051-GAC-CAT c.6919_6921delinsATG p.V2307M Missense 43/48 - 1
X-153580051-GAC-CCA c.6919_6921delinsTGG p.V2307W Missense 43/48 - 1
X-153580051-GAC-CTT c.6919_6921delinsAAG p.V2307K Missense 43/48 - 1
X-153580051-GA-CT c.6920_6921delinsAG p.V2307E Missense 43/48 - 1
X-153580051-GAC-TTG c.6919_6921delinsCAA p.V2307Q Missense 43/48 - 1
X-153580052-A-C c.6920T>G p.V2307G Missense 43/48 - 1
X-153580052-AC-CA c.6919_6920delinsTG p.V2307C Missense 43/48 - 1
X-153580052-AC-CG c.6919_6920delinsCG p.V2307R Missense 43/48 - 1
X-153580052-AC-CT c.6919_6920delinsAG p.V2307S Missense 43/48 - 1
X-153580052-AC-GG c.6919_6920delinsCC p.V2307P Missense 43/48 - 1
X-153580052-AC-GT c.6919_6920inv p.V2307T Missense 43/48 - 1
X-153580052-AC-TA c.6919_6920delinsTA p.V2307Y Missense 43/48 - 1
X-153580052-AC-TG c.6919_6920delinsCA p.V2307H Missense 43/48 - 1
X-153580052-AC-TT c.6919_6920delinsAA p.V2307N Missense 43/48 - 1
X-153580052-A-G c.6920T>C p.V2307A Missense 43/48 - 1
X-153580052-A-T c.6920T>A p.V2307D Missense 43/48 - 1
X-153580053-C-A c.6919G>T p.V2307F Missense 43/48 - 1
X-153580053-C-G c.6919G>C p.V2307L Missense 43/48 - 1
X-153580053-C-T c.6919G>A p.V2307I Missense 43/48 - 1
X-153580054-T-A c.6918A>T p.E2306D Missense 43/48 - 1
X-153580054-T-G c.6918A>C p.E2306D Missense 43/48 - 1
X-153580054-TTC-AAA c.6916_6918delinsTTT p.E2306F Missense 43/48 - 1
X-153580054-TTC-ACA c.6916_6918delinsTGT p.E2306C Missense 43/48 - 1
X-153580054-TTC-ATA c.6916_6918delinsTAT p.E2306Y Missense 43/48 - 1
X-153580054-TTC-ATG c.6916_6918delinsCAT p.E2306H Missense 43/48 - 1
X-153580054-TTC-CAT c.6916_6918delinsATG p.E2306M Missense 43/48 - 1
X-153580054-TTC-CCA c.6916_6918delinsTGG p.E2306W Missense 43/48 - 1
X-153580054-TTC-GTT c.6916_6918delinsAAC p.E2306N Missense 43/48 - 1
X-153580055-T-A c.6917A>T p.E2306V Missense 43/48 - 1
X-153580055-T-C c.6917A>G p.E2306G Missense 43/48 - 1
X-153580055-TC-AG c.6916_6917delinsCT p.E2306L Missense 43/48 - 1
X-153580055-TC-AT c.6916_6917delinsAT p.E2306I Missense 43/48 - 1
X-153580055-TC-CT c.6916_6917delinsAG p.E2306R Missense 43/48 - 1
X-153580055-TC-GA c.6916_6917inv p.E2306S Missense 43/48 - 1
X-153580055-TC-GG c.6916_6917delinsCC p.E2306P Missense 43/48 - 1
X-153580055-TC-GT c.6916_6917delinsAC p.E2306T Missense 43/48 - 1
X-153580055-T-G c.6917A>C p.E2306A Missense 43/48 - 1
X-153580056-C-A c.6916G>T p.E2306* Nonsense 43/48 - 1
X-153580056-C-G c.6916G>C p.E2306Q Missense 43/48 - 1
X-153580056-C-T c.6916G>A p.E2306K Missense 43/48 - 1
X-153580057-G-C c.6915C>G p.Y2305* Nonsense 43/48 - 2
X-153580057-G-T c.6915C>A p.Y2305* Nonsense 43/48 - 1
X-153580057-GTA-CAT c.6913_6915delinsATG p.Y2305M Missense 43/48 - 1
X-153580057-GTA-CTC c.6913_6915delinsGAG p.Y2305E Missense 43/48 - 1
X-153580057-GTA-CTT c.6913_6915delinsAAG p.Y2305K Missense 43/48 - 1
X-153580057-GTA-TTG c.6913_6915delinsCAA p.Y2305Q Missense 43/48 - 1
X-153580057-GT-CC c.6914_6915delinsGG p.Y2305W Missense 43/48 - 1
X-153580058-T-A c.6914A>T p.Y2305F Missense 43/48 - 1
X-153580058-TA-AC c.6913_6914delinsGT p.Y2305V Missense 43/48 - 1
X-153580058-TA-AG c.6913_6914delinsCT p.Y2305L Missense 43/48 - 1
X-153580058-TA-AT c.6913_6914delinsAT p.Y2305I Missense 43/48 - 1
X-153580058-TA-CC c.6913_6914delinsGG p.Y2305G Missense 43/48 - 1
X-153580058-TA-CG c.6913_6914delinsCG p.Y2305R Missense 43/48 - 1
X-153580058-TA-GC c.6913_6914delinsGC p.Y2305A Missense 43/48 - 1
X-153580058-TA-GG c.6913_6914delinsCC p.Y2305P Missense 43/48 - 1
X-153580058-TA-GT c.6913_6914delinsAC p.Y2305T Missense 43/48 - 1
X-153580058-T-C c.6914A>G p.Y2305C Missense 43/48 - 1
X-153580058-T-G c.6914A>C p.Y2305S Missense 43/48 - 1
X-153580059-A-C c.6913T>G p.Y2305D Missense 43/48 - 1
X-153580059-A-G c.6913T>C p.Y2305H Missense 43/48 - 1
X-153580059-A-T c.6913T>A p.Y2305N Missense 43/48 - 1
X-153580060-G-C c.6912C>G p.D2304E Missense 43/48 - 1
X-153580060-G-T c.6912C>A p.D2304E Missense 43/48 - 1
X-153580060-GTC-CAT c.6910_6912delinsATG p.D2304M Missense 43/48 - 1
X-153580060-GTC-CCA c.6910_6912delinsTGG p.D2304W Missense 43/48 - 1
X-153580060-GTC-CTT c.6910_6912delinsAAG p.D2304K Missense 43/48 - 1
X-153580060-GTC-TTG c.6910_6912delinsCAA p.D2304Q Missense 43/48 - 1
X-153580061-T-A c.6911A>T p.D2304V Missense 43/48 - 1
X-153580061-T-C c.6911A>G p.D2304G Missense 43/48 - 1
X-153580061-TC-AA c.6910_6911delinsTT p.D2304F Missense 43/48 - 1
X-153580061-TC-AG c.6910_6911delinsCT p.D2304L Missense 43/48 - 1
X-153580061-TC-AT c.6910_6911delinsAT p.D2304I Missense 43/48 - 1
X-153580061-TC-CA c.6910_6911delinsTG p.D2304C Missense 43/48 - 1
X-153580061-TC-CG c.6910_6911delinsCG p.D2304R Missense 43/48 - 1
X-153580061-TC-CT c.6910_6911delinsAG p.D2304S Missense 43/48 - 1
X-153580061-TC-GG c.6910_6911delinsCC p.D2304P Missense 43/48 - 1
X-153580061-TC-GT c.6910_6911delinsAC p.D2304T Missense 43/48 - 1
X-153580061-T-G c.6911A>C p.D2304A Missense 43/48 - 1
X-153580062-C-A c.6910G>T p.D2304Y Missense 43/48 - 1
X-153580062-C-G c.6910G>C p.D2304H Missense 43/48 - 1
X-153580062-C-T c.6910G>A p.D2304N Missense 43/48 - 2
X-153580063-AC-CT c.6908_6909delinsAG p.G2303E Missense 43/48 - 1
X-153580064-C-A c.6908G>T p.G2303V Missense 43/48 - 1
X-153580064-C-G c.6908G>C p.G2303A Missense 43/48 - 1
X-153580064-C-T c.6908G>A p.G2303D Missense 43/48 - 1
X-153580251-C-T c.6907+1G>A - IntronicSNV - 42/47 1
X-153580252-C-A c.6907G>T p.G2303C Missense 42/48 - 1
X-153580252-C-G c.6907G>C p.G2303R Missense 42/48 - 1
X-153580252-C-T c.6907G>A p.G2303S Missense 42/48 - 2
X-153580253-TG-AT c.6905_6906delinsAT p.P2302H Missense 42/48 - 1
X-153580253-TGG-AAA c.6904_6906delinsTTT p.P2302F Missense 42/48 - 1
X-153580253-TGG-ACA c.6904_6906delinsTGT p.P2302C Missense 42/48 - 1
X-153580253-TGG-ATA c.6904_6906delinsTAT p.P2302Y Missense 42/48 - 1
X-153580253-TGG-CAT c.6904_6906delinsATG p.P2302M Missense 42/48 - 1
X-153580253-TGG-CCA c.6904_6906inv p.P2302W Missense 42/48 - 1
X-153580253-TGG-GTC c.6904_6906delinsGAC p.P2302D Missense 42/48 - 1
X-153580253-TGG-GTT c.6904_6906delinsAAC p.P2302N Missense 42/48 - 1
X-153580254-G-A c.6905C>T p.P2302L Missense 42/48 - 1
X-153580254-G-C c.6905C>G p.P2302R Missense 42/48 - 1
X-153580254-GG-AC c.6904_6905delinsGT p.P2302V Missense 42/48 - 1
X-153580254-GG-AT c.6904_6905delinsAT p.P2302I Missense 42/48 - 1
X-153580254-GG-CC c.6904_6905inv p.P2302G Missense 42/48 - 1
X-153580254-GG-TC c.6904_6905delinsGA p.P2302E Missense 42/48 - 1
X-153580254-GG-TT c.6904_6905delinsAA p.P2302K Missense 42/48 - 1
X-153580254-G-T c.6905C>A p.P2302Q Missense 42/48 - 1
X-153580255-G-A c.6904C>T p.P2302S Missense 42/48 - 1
X-153580255-G-C c.6904C>G p.P2302A Missense 42/48 - 1
X-153580255-G-T c.6904C>A p.P2302T Missense 42/48 - 1
X-153580256-C-A c.6903G>T p.E2301D Missense 42/48 - 1
X-153580256-C-G c.6903G>C p.E2301D Missense 42/48 - 1
X-153580256-CTC-AAA c.6901_6903delinsTTT p.E2301F Missense 42/48 - 1
X-153580256-CTC-ACA c.6901_6903delinsTGT p.E2301C Missense 42/48 - 1
X-153580256-CTC-ATA c.6901_6903delinsTAT p.E2301Y Missense 42/48 - 1
X-153580256-CTC-ATG c.6901_6903delinsCAT p.E2301H Missense 42/48 - 1
X-153580256-CTC-GAT c.6901_6903delinsATC p.E2301I Missense 42/48 - 1
X-153580256-CTC-GTT c.6901_6903delinsAAC p.E2301N Missense 42/48 - 1
X-153580257-T-A c.6902A>T p.E2301V Missense 42/48 - 1
X-153580257-T-C c.6902A>G p.E2301G Missense 42/48 - 1
X-153580257-TC-AG c.6901_6902delinsCT p.E2301L Missense 42/48 - 1
X-153580257-TC-AT c.6901_6902delinsAT p.E2301M Missense 42/48 - 1
X-153580257-TC-CA c.6901_6902delinsTG p.E2301W Missense 42/48 - 1
X-153580257-TC-CT c.6901_6902delinsAG p.E2301R Missense 42/48 - 1
X-153580257-TC-GA c.6901_6902inv p.E2301S Missense 42/48 - 1
X-153580257-TC-GG c.6901_6902delinsCC p.E2301P Missense 42/48 - 1
X-153580257-TC-GT c.6901_6902delinsAC p.E2301T Missense 42/48 - 1
X-153580257-T-G c.6902A>C p.E2301A Missense 42/48 - 1
X-153580258-C-G c.6901G>C p.E2301Q Missense 42/48 - 1
X-153580258-C-T c.6901G>A p.E2301K Missense 42/48 - 1
X-153580259-C-A c.6900G>T p.Q2300H Missense 42/48 - 1
X-153580259-C-G c.6900G>C p.Q2300H Missense 42/48 - 1
X-153580259-CTG-AAA c.6898_6900delinsTTT p.Q2300F Missense 42/48 - 1
X-153580259-CTG-ACA c.6898_6900delinsTGT p.Q2300C Missense 42/48 - 1
X-153580259-CTG-ATA c.6898_6900delinsTAT p.Q2300Y Missense 42/48 - 1
X-153580259-CTG-GAT c.6898_6900delinsATC p.Q2300I Missense 42/48 - 1
X-153580259-CTG-GTC c.6898_6900delinsGAC p.Q2300D Missense 42/48 - 1
X-153580259-CTG-GTT c.6898_6900delinsAAC p.Q2300N Missense 42/48 - 1
X-153580260-T-A c.6899A>T p.Q2300L Missense 42/48 - 1
X-153580260-T-C c.6899A>G p.Q2300R Missense 42/48 - 1
X-153580260-T-G c.6899A>C p.Q2300P Missense 42/48 - 1
X-153580260-TG-AC c.6898_6899delinsGT p.Q2300V Missense 42/48 - 1
X-153580260-TG-AT c.6898_6899delinsAT p.Q2300M Missense 42/48 - 1
X-153580260-TG-CA c.6898_6899inv p.Q2300W Missense 42/48 - 1
X-153580260-TG-CC c.6898_6899delinsGG p.Q2300G Missense 42/48 - 1
X-153580260-TG-GA c.6898_6899delinsTC p.Q2300S Missense 42/48 - 1
X-153580260-TG-GC c.6898_6899delinsGC p.Q2300A Missense 42/48 - 1
X-153580260-TG-GT c.6898_6899delinsAC p.Q2300T Missense 42/48 - 1
X-153580261-G-A c.6898C>T p.Q2300* Nonsense 42/48 - 1
X-153580261-G-C c.6898C>G p.Q2300E Missense 42/48 - 1
X-153580261-G-T c.6898C>A p.Q2300K Missense 42/48 - 1
X-153580262-G-A c.6897C>T p.V2299= Synonymous 42/48 - 1
X-153580262-GAC-CAT c.6895_6897delinsATG p.V2299M Missense 42/48 - 1
X-153580262-GAC-CCA c.6895_6897delinsTGG p.V2299W Missense 42/48 - 1
X-153580262-GAC-CTT c.6895_6897delinsAAG p.V2299K Missense 42/48 - 1
X-153580262-GA-CT c.6896_6897delinsAG p.V2299E Missense 42/48 - 1
X-153580262-GAC-TTG c.6895_6897delinsCAA p.V2299Q Missense 42/48 - 1
X-153580262-G-C c.6897C>G p.V2299= Synonymous 42/48 - 2
X-153580262-G-T c.6897C>A p.V2299= Synonymous 42/48 - 1
X-153580263-A-C c.6896T>G p.V2299G Missense 42/48 - 1
X-153580263-AC-CA c.6895_6896delinsTG p.V2299C Missense 42/48 - 1
X-153580263-AC-CG c.6895_6896delinsCG p.V2299R Missense 42/48 - 1
X-153580263-AC-CT c.6895_6896delinsAG p.V2299S Missense 42/48 - 1
X-153580263-AC-GG c.6895_6896delinsCC p.V2299P Missense 42/48 - 1
X-153580263-AC-GT c.6895_6896inv p.V2299T Missense 42/48 - 1
X-153580263-AC-TA c.6895_6896delinsTA p.V2299Y Missense 42/48 - 1
X-153580263-AC-TG c.6895_6896delinsCA p.V2299H Missense 42/48 - 1
X-153580263-AC-TT c.6895_6896delinsAA p.V2299N Missense 42/48 - 1
X-153580263-A-G c.6896T>C p.V2299A Missense 42/48 - 1
X-153580263-A-T c.6896T>A p.V2299D Missense 42/48 - 1
X-153580264-C-A c.6895G>T p.V2299F Missense 42/48 - 1
X-153580264-C-G c.6895G>C p.V2299L Missense 42/48 - 1
X-153580264-C-T c.6895G>A p.V2299I Missense 42/48 - 1
X-153580265-CAC-AAA c.6892_6894delinsTTT p.V2298F Missense 42/48 - 1
X-153580265-CAC-ACA c.6892_6894delinsTGT p.V2298C Missense 42/48 - 1
X-153580265-CAC-ATA c.6892_6894delinsTAT p.V2298Y Missense 42/48 - 1
X-153580265-CAC-ATG c.6892_6894delinsCAT p.V2298H Missense 42/48 - 1
X-153580265-CAC-GAT c.6892_6894delinsATC p.V2298I Missense 42/48 - 1
X-153580265-CAC-GTT c.6892_6894delinsAAC p.V2298N Missense 42/48 - 1
X-153580265-CA-GT c.6893_6894delinsAC p.V2298D Missense 42/48 - 1
X-153580266-A-C c.6893T>G p.V2298G Missense 42/48 - 1
X-153580266-AC-CA c.6892_6893delinsTG p.V2298W Missense 42/48 - 1
X-153580266-AC-CT c.6892_6893delinsAG p.V2298R Missense 42/48 - 1
X-153580266-AC-GA c.6892_6893delinsTC p.V2298S Missense 42/48 - 1
X-153580266-AC-GG c.6892_6893delinsCC p.V2298P Missense 42/48 - 1
X-153580266-AC-GT c.6892_6893inv p.V2298T Missense 42/48 - 1
X-153580266-AC-TG c.6892_6893delinsCA p.V2298Q Missense 42/48 - 1
X-153580266-AC-TT c.6892_6893delinsAA p.V2298K Missense 42/48 - 1
X-153580266-A-G c.6893T>C p.V2298A Missense 42/48 - 1
X-153580266-A-T c.6893T>A p.V2298E Missense 42/48 - 1
X-153580267-C-A c.6892G>T p.V2298L Missense 42/48 - 1
X-153580267-C-G c.6892G>C p.V2298L Missense 42/48 - 1
X-153580267-C-T c.6892G>A p.V2298M Missense 42/48 - 1
X-153580268-ATA-CAT c.6889_6891delinsATG p.Y2297M Missense 42/48 - 1
X-153580268-ATA-CTC c.6889_6891delinsGAG p.Y2297E Missense 42/48 - 1
X-153580268-ATA-CTT c.6889_6891delinsAAG p.Y2297K Missense 42/48 - 1
X-153580268-ATA-TTG c.6889_6891delinsCAA p.Y2297Q Missense 42/48 - 1
X-153580268-AT-CC c.6890_6891delinsGG p.Y2297W Missense 42/48 - 1
X-153580269-T-A c.6890A>T p.Y2297F Missense 42/48 - 1
X-153580269-TA-AC c.6889_6890delinsGT p.Y2297V Missense 42/48 - 1
X-153580269-TA-AG c.6889_6890delinsCT p.Y2297L Missense 42/48 - 1
X-153580269-TA-AT c.6889_6890delinsAT p.Y2297I Missense 42/48 - 1
X-153580269-TA-CC c.6889_6890delinsGG p.Y2297G Missense 42/48 - 1
X-153580269-TA-CG c.6889_6890delinsCG p.Y2297R Missense 42/48 - 1
X-153580269-TA-GC c.6889_6890delinsGC p.Y2297A Missense 42/48 - 1
X-153580269-TA-GG c.6889_6890delinsCC p.Y2297P Missense 42/48 - 1
X-153580269-TA-GT c.6889_6890delinsAC p.Y2297T Missense 42/48 - 1
X-153580269-T-C c.6890A>G p.Y2297C Missense 42/48 - 1
X-153580269-T-G c.6890A>C p.Y2297S Missense 42/48 - 1
X-153580270-A-C c.6889T>G p.Y2297D Missense 42/48 - 1
X-153580270-A-G c.6889T>C p.Y2297H Missense 42/48 - 1
X-153580270-A-T c.6889T>A p.Y2297N Missense 42/48 - 1
X-153580271-A-G c.6888T>C p.A2296= Synonymous 42/48 - 1
X-153580271-AGC-CAT c.6886_6888delinsATG p.A2296M Missense 42/48 - 1
X-153580271-AGC-CCA c.6886_6888delinsTGG p.A2296W Missense 42/48 - 1
X-153580271-AGC-CTT c.6886_6888delinsAAG p.A2296K Missense 42/48 - 1
X-153580271-AG-CT c.6887_6888inv p.A2296E Missense 42/48 - 1
X-153580271-AGC-TTG c.6886_6888delinsCAA p.A2296Q Missense 42/48 - 1
X-153580272-G-A c.6887C>T p.A2296V Missense 42/48 - 1
X-153580272-G-C c.6887C>G p.A2296G Missense 42/48 - 1
X-153580272-GC-AA c.6886_6887delinsTT p.A2296F Missense 42/48 - 1
X-153580272-GC-AG c.6886_6887delinsCT p.A2296L Missense 42/48 - 1
X-153580272-GC-AT c.6886_6887delinsAT p.A2296I Missense 42/48 - 1
X-153580272-GC-CA c.6886_6887delinsTG p.A2296C Missense 42/48 - 1
X-153580272-GC-CG c.6886_6887delinsCG p.A2296R Missense 42/48 - 1
X-153580272-GC-TA c.6886_6887delinsTA p.A2296Y Missense 42/48 - 1
X-153580272-GC-TG c.6886_6887delinsCA p.A2296H Missense 42/48 - 1
X-153580272-GC-TT c.6886_6887delinsAA p.A2296N Missense 42/48 - 1
X-153580272-G-T c.6887C>A p.A2296D Missense 42/48 - 1
X-153580273-C-A c.6886G>T p.A2296S Missense 42/48 - 1
X-153580273-C-G c.6886G>C p.A2296P Missense 42/48 - 1
X-153580273-C-T c.6886G>A p.A2296T Missense 42/48 - 1
X-153580274-CAC-AAA c.6883_6885delinsTTT p.V2295F Missense 42/48 - 1
X-153580274-CAC-ACA c.6883_6885delinsTGT p.V2295C Missense 42/48 - 1
X-153580274-CAC-ATA c.6883_6885delinsTAT p.V2295Y Missense 42/48 - 1
X-153580274-CAC-ATG c.6883_6885delinsCAT p.V2295H Missense 42/48 - 1
X-153580274-CAC-GAT c.6883_6885delinsATC p.V2295I Missense 42/48 - 1
X-153580274-CAC-GTT c.6883_6885delinsAAC p.V2295N Missense 42/48 - 1
X-153580274-CA-GT c.6884_6885delinsAC p.V2295D Missense 42/48 - 1
X-153580275-A-C c.6884T>G p.V2295G Missense 42/48 - 1
X-153580275-AC-CA c.6883_6884delinsTG p.V2295W Missense 42/48 - 1
X-153580275-AC-CT c.6883_6884delinsAG p.V2295R Missense 42/48 - 1
X-153580275-AC-GA c.6883_6884delinsTC p.V2295S Missense 42/48 - 1
X-153580275-AC-GG c.6883_6884delinsCC p.V2295P Missense 42/48 - 1
X-153580275-AC-GT c.6883_6884inv p.V2295T Missense 42/48 - 1
X-153580275-AC-TG c.6883_6884delinsCA p.V2295Q Missense 42/48 - 1
X-153580275-AC-TT c.6883_6884delinsAA p.V2295K Missense 42/48 - 1
X-153580275-A-G c.6884T>C p.V2295A Missense 42/48 - 1
X-153580275-A-T c.6884T>A p.V2295E Missense 42/48 - 1
X-153580276-C-A c.6883G>T p.V2295L Missense 42/48 - 1
X-153580276-C-G c.6883G>C p.V2295L Missense 42/48 - 1
X-153580276-C-T c.6883G>A p.V2295M Missense 42/48 - 1
X-153580277-ACC-CAT c.6880_6882delinsATG p.G2294M Missense 42/48 - 1
X-153580277-ACC-CCA c.6880_6882delinsTGG p.G2294W Missense 42/48 - 1
X-153580277-ACC-CTT c.6880_6882delinsAAG p.G2294K Missense 42/48 - 1
X-153580277-AC-CT c.6881_6882delinsAG p.G2294E Missense 42/48 - 1
X-153580277-ACC-TTG c.6880_6882delinsCAA p.G2294Q Missense 42/48 - 1
X-153580278-C-A c.6881G>T p.G2294V Missense 42/48 - 1
X-153580278-CC-AA c.6880_6881delinsTT p.G2294F Missense 42/48 - 1
X-153580278-CC-AG c.6880_6881delinsCT p.G2294L Missense 42/48 - 1
X-153580278-CC-AT c.6880_6881delinsAT p.G2294I Missense 42/48 - 1
X-153580278-CC-GG c.6880_6881inv p.G2294P Missense 42/48 - 1
X-153580278-CC-GT c.6880_6881delinsAC p.G2294T Missense 42/48 - 1
X-153580278-CC-TA c.6880_6881delinsTA p.G2294Y Missense 42/48 - 1
X-153580278-CC-TG c.6880_6881delinsCA p.G2294H Missense 42/48 - 1
X-153580278-CC-TT c.6880_6881delinsAA p.G2294N Missense 42/48 - 1
X-153580278-C-G c.6881G>C p.G2294A Missense 42/48 - 1
X-153580278-C-T c.6881G>A p.G2294D Missense 42/48 - 1
X-153580279-C-A c.6880G>T p.G2294C Missense 42/48 - 1
X-153580279-C-G c.6880G>C p.G2294R Missense 42/48 - 1
X-153580279-C-T c.6880G>A p.G2294S Missense 42/48 - 1
X-153580280-A-C c.6879T>G p.C2293W Missense 42/48 - 1
X-153580280-ACA-CAT c.6877_6879delinsATG p.C2293M Missense 42/48 - 1
X-153580280-ACA-CTC c.6877_6879delinsGAG p.C2293E Missense 42/48 - 1
X-153580280-ACA-CTT c.6877_6879delinsAAG p.C2293K Missense 42/48 - 1
X-153580280-ACA-TTG c.6877_6879delinsCAA p.C2293Q Missense 42/48 - 1
X-153580281-C-A c.6878G>T p.C2293F Missense 42/48 - 1
X-153580281-CA-AC c.6877_6878delinsGT p.C2293V Missense 42/48 - 1
X-153580281-CA-AG c.6877_6878delinsCT p.C2293L Missense 42/48 - 1
X-153580281-CA-AT c.6877_6878delinsAT p.C2293I Missense 42/48 - 1
X-153580281-CA-GC c.6877_6878delinsGC p.C2293A Missense 42/48 - 1
X-153580281-CA-GG c.6877_6878delinsCC p.C2293P Missense 42/48 - 1
X-153580281-CA-GT c.6877_6878delinsAC p.C2293T Missense 42/48 - 1
X-153580281-CA-TC c.6877_6878delinsGA p.C2293D Missense 42/48 - 1
X-153580281-CA-TG c.6877_6878inv p.C2293H Missense 42/48 - 1
X-153580281-CA-TT c.6877_6878delinsAA p.C2293N Missense 42/48 - 1
X-153580281-C-T c.6878G>A p.C2293Y Missense 42/48 - 1
X-153580281-C-G c.6878G>C p.C2293S Missense 42/48 - 1
X-153580282-A-C c.6877T>G p.C2293G Missense 42/48 - 1
X-153580282-A-G c.6877T>C p.C2293R Missense 42/48 - 1
X-153580282-A-T c.6877T>A p.C2293S Missense 42/48 - 1
X-153580283-GGA-CAT c.6874_6876delinsATG p.S2292M Missense 42/48 - 1
X-153580283-GGA-CTC c.6874_6876delinsGAG p.S2292E Missense 42/48 - 1
X-153580283-GGA-CTT c.6874_6876delinsAAG p.S2292K Missense 42/48 - 1
X-153580283-GGA-TTG c.6874_6876delinsCAA p.S2292Q Missense 42/48 - 1
X-153580283-GG-CC c.6875_6876inv p.S2292W Missense 42/48 - 1
X-153580284-G-A c.6875C>T p.S2292F Missense 42/48 - 1
X-153580284-GA-AC c.6874_6875delinsGT p.S2292V Missense 42/48 - 1
X-153580284-GA-AG c.6874_6875delinsCT p.S2292L Missense 42/48 - 1
X-153580284-GA-AT c.6874_6875delinsAT p.S2292I Missense 42/48 - 1
X-153580284-GA-CC c.6874_6875delinsGG p.S2292G Missense 42/48 - 1
X-153580284-GA-CG c.6874_6875delinsCG p.S2292R Missense 42/48 - 1
X-153580284-GA-TC c.6874_6875inv p.S2292D Missense 42/48 - 1
X-153580284-GA-TG c.6874_6875delinsCA p.S2292H Missense 42/48 - 1
X-153580284-GA-TT c.6874_6875delinsAA p.S2292N Missense 42/48 - 1
X-153580284-G-C c.6875C>G p.S2292C Missense 42/48 - 1
X-153580284-G-T c.6875C>A p.S2292Y Missense 42/48 - 1
X-153580285-A-C c.6874T>G p.S2292A Missense 42/48 - 1
X-153580285-A-G c.6874T>C p.S2292P Missense 42/48 - 1
X-153580285-A-T c.6874T>A p.S2292T Missense 42/48 - 1
X-153580286-GCC-CAT c.6871_6873delinsATG p.G2291M Missense 42/48 - 1
X-153580286-GCC-CCA c.6871_6873delinsTGG p.G2291W Missense 42/48 - 1
X-153580286-GCC-CTT c.6871_6873delinsAAG p.G2291K Missense 42/48 - 1
X-153580286-GC-CT c.6872_6873delinsAG p.G2291E Missense 42/48 - 1
X-153580286-GCC-TTG c.6871_6873delinsCAA p.G2291Q Missense 42/48 - 1
X-153580287-C-A c.6872G>T p.G2291V Missense 42/48 - 1
X-153580287-CC-AA c.6871_6872delinsTT p.G2291F Missense 42/48 - 1
X-153580287-CC-AG c.6871_6872delinsCT p.G2291L Missense 42/48 - 1
X-153580287-CC-AT c.6871_6872delinsAT p.G2291I Missense 42/48 - 1
X-153580287-CC-GG c.6871_6872inv p.G2291P Missense 42/48 - 1
X-153580287-CC-GT c.6871_6872delinsAC p.G2291T Missense 42/48 - 1
X-153580287-CC-TA c.6871_6872delinsTA p.G2291Y Missense 42/48 - 1
X-153580287-CC-TG c.6871_6872delinsCA p.G2291H Missense 42/48 - 1
X-153580287-CC-TT c.6871_6872delinsAA p.G2291N Missense 42/48 - 1
X-153580287-C-G c.6872G>C p.G2291A Missense 42/48 - 1
X-153580287-C-T c.6872G>A p.G2291D Missense 42/48 - 1
X-153580288-C-A c.6871G>T p.G2291C Missense 42/48 - 1
X-153580288-C-G c.6871G>C p.G2291R Missense 42/48 - 1
X-153580288-C-T c.6871G>A p.G2291S Missense 42/48 - 2
X-153580289-G-A c.6870C>T p.D2290= Synonymous 42/48 - 4
X-153580289-G-C c.6870C>G p.D2290E Missense 42/48 - 1
X-153580289-G-T c.6870C>A p.D2290E Missense 42/48 - 1
X-153580289-GTC-CAT c.6868_6870delinsATG p.D2290M Missense 42/48 - 1
X-153580289-GTC-CCA c.6868_6870delinsTGG p.D2290W Missense 42/48 - 1
X-153580289-GTC-CTT c.6868_6870delinsAAG p.D2290K Missense 42/48 - 1
X-153580289-GTC-TTG c.6868_6870delinsCAA p.D2290Q Missense 42/48 - 1
X-153580290-T-A c.6869A>T p.D2290V Missense 42/48 - 1
X-153580290-T-C c.6869A>G p.D2290G Missense 42/48 - 1
X-153580290-TC-AA c.6868_6869delinsTT p.D2290F Missense 42/48 - 1
X-153580290-TC-AG c.6868_6869delinsCT p.D2290L Missense 42/48 - 1
X-153580290-TC-AT c.6868_6869delinsAT p.D2290I Missense 42/48 - 1
X-153580290-TC-CA c.6868_6869delinsTG p.D2290C Missense 42/48 - 1
X-153580290-TC-CG c.6868_6869delinsCG p.D2290R Missense 42/48 - 1
X-153580290-TC-CT c.6868_6869delinsAG p.D2290S Missense 42/48 - 1
X-153580290-TC-GG c.6868_6869delinsCC p.D2290P Missense 42/48 - 1
X-153580290-TC-GT c.6868_6869delinsAC p.D2290T Missense 42/48 - 1
X-153580290-T-G c.6869A>C p.D2290A Missense 42/48 - 1
X-153580291-C-A c.6868G>T p.D2290Y Missense 42/48 - 1
X-153580291-C-G c.6868G>C p.D2290H Missense 42/48 - 1
X-153580291-C-T c.6868G>A p.D2290N Missense 42/48 - 1
X-153580292-C-A c.6867G>T p.K2289N Missense 42/48 - 1
X-153580292-C-G c.6867G>C p.K2289N Missense 42/48 - 1
X-153580292-CT-GA c.6866_6867delinsTC p.K2289I Missense 42/48 - 1
X-153580292-CT-GC c.6866_6867delinsGC p.K2289S Missense 42/48 - 1
X-153580292-CTT-AAA c.6865_6867delinsTTT p.K2289F Missense 42/48 - 1
X-153580292-CTT-ACA c.6865_6867delinsTGT p.K2289C Missense 42/48 - 1
X-153580292-CTT-ATA c.6865_6867delinsTAT p.K2289Y Missense 42/48 - 1
X-153580292-CTT-ATG c.6865_6867delinsCAT p.K2289H Missense 42/48 - 1
X-153580292-CTT-GTC c.6865_6867delinsGAC p.K2289D Missense 42/48 - 1
X-153580293-T-A c.6866A>T p.K2289M Missense 42/48 - 1
X-153580293-T-C c.6866A>G p.K2289R Missense 42/48 - 1
X-153580293-T-G c.6866A>C p.K2289T Missense 42/48 - 1
X-153580293-TT-AC c.6865_6866delinsGT p.K2289V Missense 42/48 - 1
X-153580293-TT-AG c.6865_6866delinsCT p.K2289L Missense 42/48 - 1
X-153580293-TT-CA c.6865_6866delinsTG p.K2289W Missense 42/48 - 1
X-153580293-TT-CC c.6865_6866delinsGG p.K2289G Missense 42/48 - 1
X-153580293-TT-GC c.6865_6866delinsGC p.K2289A Missense 42/48 - 1
X-153580293-TT-GG c.6865_6866delinsCC p.K2289P Missense 42/48 - 1
X-153580294-T-C c.6865A>G p.K2289E Missense 42/48 - 1
X-153580294-T-G c.6865A>C p.K2289Q Missense 42/48 - 1
X-153580295-GCG-CAT c.6862_6864delinsATG p.R2288M Missense 42/48 - 1
X-153580295-GCG-CCA c.6862_6864delinsTGG p.R2288W Missense 42/48 - 1
X-153580295-GCG-CTC c.6862_6864delinsGAG p.R2288E Missense 42/48 - 1
X-153580295-GCG-CTT c.6862_6864delinsAAG p.R2288K Missense 42/48 - 1
X-153580295-GC-TT c.6863_6864delinsAA p.R2288Q Missense 42/48 - 1
X-153580296-C-A c.6863G>T p.R2288L Missense 42/48 - 1
X-153580296-C-G c.6863G>C p.R2288P Missense 42/48 - 1
X-153580296-CG-AA c.6862_6863delinsTT p.R2288F Missense 42/48 - 1
X-153580296-CG-AC c.6862_6863delinsGT p.R2288V Missense 42/48 - 1
X-153580296-CG-AT c.6862_6863delinsAT p.R2288I Missense 42/48 - 1
X-153580296-CG-GC c.6862_6863delinsGC p.R2288A Missense 42/48 - 1
X-153580296-CG-GT c.6862_6863delinsAC p.R2288T Missense 42/48 - 1
X-153580296-CG-TA c.6862_6863delinsTA p.R2288Y Missense 42/48 - 1
X-153580296-CG-TC c.6862_6863delinsGA p.R2288D Missense 42/48 - 1
X-153580296-CG-TT c.6862_6863delinsAA p.R2288N Missense 42/48 - 1
X-153580296-C-T c.6863G>A p.R2288H Missense 42/48 - 4
X-153580297-G-A c.6862C>T p.R2288C Missense 42/48 - 1
X-153580297-G-C c.6862C>G p.R2288G Missense 42/48 - 1
X-153580297-G-T c.6862C>A p.R2288S Missense 42/48 - 1
X-153580296-CG-C c.6862del p.R2288Afs*58 Frameshift 42/48 - 2
X-153580298-G-C c.6861C>G p.D2287E Missense 42/48 - 1
X-153580298-G-T c.6861C>A p.D2287E Missense 42/48 - 1
X-153580298-GTC-CAT c.6859_6861delinsATG p.D2287M Missense 42/48 - 1
X-153580298-GTC-CCA c.6859_6861delinsTGG p.D2287W Missense 42/48 - 1
X-153580298-GTC-CTT c.6859_6861delinsAAG p.D2287K Missense 42/48 - 1
X-153580298-GTC-TTG c.6859_6861delinsCAA p.D2287Q Missense 42/48 - 1
X-153580299-T-A c.6860A>T p.D2287V Missense 42/48 - 1
X-153580299-T-C c.6860A>G p.D2287G Missense 42/48 - 1
X-153580299-TC-AA c.6859_6860delinsTT p.D2287F Missense 42/48 - 1
X-153580299-TC-AG c.6859_6860delinsCT p.D2287L Missense 42/48 - 1
X-153580299-TC-AT c.6859_6860delinsAT p.D2287I Missense 42/48 - 1
X-153580299-TC-CA c.6859_6860delinsTG p.D2287C Missense 42/48 - 1
X-153580299-TC-CG c.6859_6860delinsCG p.D2287R Missense 42/48 - 1
X-153580299-TC-CT c.6859_6860delinsAG p.D2287S Missense 42/48 - 1
X-153580299-TC-GG c.6859_6860delinsCC p.D2287P Missense 42/48 - 1
X-153580299-TC-GT c.6859_6860delinsAC p.D2287T Missense 42/48 - 1
X-153580299-T-G c.6860A>C p.D2287A Missense 42/48 - 1
X-153580300-C-A c.6859G>T p.D2287Y Missense 42/48 - 1
X-153580300-C-G c.6859G>C p.D2287H Missense 42/48 - 1
X-153580300-C-T c.6859G>A p.D2287N Missense 42/48 - 1
X-153580301-C-A c.6858G>T p.E2286D Missense 42/48 - 1
X-153580301-C-G c.6858G>C p.E2286D Missense 42/48 - 1
X-153580301-CTC-AAA c.6856_6858delinsTTT p.E2286F Missense 42/48 - 1
X-153580301-CTC-ACA c.6856_6858delinsTGT p.E2286C Missense 42/48 - 1
X-153580301-CTC-ATA c.6856_6858delinsTAT p.E2286Y Missense 42/48 - 1
X-153580301-CTC-ATG c.6856_6858delinsCAT p.E2286H Missense 42/48 - 1
X-153580301-CTC-GAT c.6856_6858delinsATC p.E2286I Missense 42/48 - 1
X-153580301-CTC-GTT c.6856_6858delinsAAC p.E2286N Missense 42/48 - 1
X-153580302-T-A c.6857A>T p.E2286V Missense 42/48 - 1
X-153580302-T-C c.6857A>G p.E2286G Missense 42/48 - 1
X-153580302-TC-AG c.6856_6857delinsCT p.E2286L Missense 42/48 - 1
X-153580302-TC-AT c.6856_6857delinsAT p.E2286M Missense 42/48 - 1
X-153580302-TC-CA c.6856_6857delinsTG p.E2286W Missense 42/48 - 1
X-153580302-TC-CT c.6856_6857delinsAG p.E2286R Missense 42/48 - 1
X-153580302-TC-GA c.6856_6857inv p.E2286S Missense 42/48 - 1
X-153580302-TC-GG c.6856_6857delinsCC p.E2286P Missense 42/48 - 1
X-153580302-TC-GT c.6856_6857delinsAC p.E2286T Missense 42/48 - 1
X-153580302-T-G c.6857A>C p.E2286A Missense 42/48 - 1
X-153580303-C-G c.6856G>C p.E2286Q Missense 42/48 - 1
X-153580303-C-T c.6856G>A p.E2286K Missense 42/48 - 3
X-153580304-AAA-CAT c.6853_6855delinsATG p.F2285M Missense 42/48 - 1
X-153580304-AAA-CTC c.6853_6855delinsGAG p.F2285E Missense 42/48 - 1
X-153580304-AAA-CTT c.6853_6855delinsAAG p.F2285K Missense 42/48 - 1
X-153580304-AAA-TTG c.6853_6855delinsCAA p.F2285Q Missense 42/48 - 1
X-153580304-AA-CC c.6854_6855delinsGG p.F2285W Missense 42/48 - 1
X-153580304-AA-TT c.6854_6855inv p.F2285* Nonsense 42/48 - 1
X-153580304-A-G c.6855T>C p.F2285= Synonymous 42/48 - 1
X-153580305-AA-CC c.6853_6854delinsGG p.F2285G Missense 42/48 - 1
X-153580305-AA-CG c.6853_6854delinsCG p.F2285R Missense 42/48 - 1
X-153580305-AA-GC c.6853_6854delinsGC p.F2285A Missense 42/48 - 1
X-153580305-AA-GG c.6853_6854delinsCC p.F2285P Missense 42/48 - 1
X-153580305-AA-GT c.6853_6854delinsAC p.F2285T Missense 42/48 - 1
X-153580305-AA-TC c.6853_6854delinsGA p.F2285D Missense 42/48 - 1
X-153580305-AA-TG c.6853_6854delinsCA p.F2285H Missense 42/48 - 1
X-153580305-A-ATT c.6853_6854insAA p.F2285* Nonsense 42/48 - 1
X-153580305-AA-TT c.6853_6854inv p.F2285N Missense 42/48 - 1
X-153580305-A-C c.6854T>G p.F2285C Missense 42/48 - 1
X-153580305-A-G c.6854T>C p.F2285S Missense 42/48 - 1
X-153580305-A-T c.6854T>A p.F2285Y Missense 42/48 - 1
X-153580303-CAA-C c.6854_6855del p.F2285* Frameshift 42/48 - 1
X-153580304-A-C c.6855T>G p.F2285L Missense 42/48 - 1
X-153580304-A-T c.6855T>A p.F2285L Missense 42/48 - 1
X-153580306-A-C c.6853T>G p.F2285V Missense 42/48 - 1
X-153580306-A-G c.6853T>C p.F2285L Missense 42/48 - 1
X-153580306-A-T c.6853T>A p.F2285I Missense 42/48 - 1
X-153580307-AGA-CAT c.6850_6852delinsATG p.S2284M Missense 42/48 - 1
X-153580307-AGA-CTC c.6850_6852delinsGAG p.S2284E Missense 42/48 - 1
X-153580307-AGA-CTT c.6850_6852delinsAAG p.S2284K Missense 42/48 - 1
X-153580307-AGA-TTG c.6850_6852delinsCAA p.S2284Q Missense 42/48 - 1
X-153580307-AG-CC c.6851_6852delinsGG p.S2284W Missense 42/48 - 1
X-153580308-G-A c.6851C>T p.S2284F Missense 42/48 - 3
X-153580308-GA-AC c.6850_6851delinsGT p.S2284V Missense 42/48 - 1
X-153580308-GA-AG c.6850_6851delinsCT p.S2284L Missense 42/48 - 1
X-153580308-GA-AT c.6850_6851delinsAT p.S2284I Missense 42/48 - 1
X-153580308-GA-CC c.6850_6851delinsGG p.S2284G Missense 42/48 - 1
X-153580308-GA-CG c.6850_6851delinsCG p.S2284R Missense 42/48 - 1
X-153580308-GA-TC c.6850_6851inv p.S2284D Missense 42/48 - 1
X-153580308-GA-TG c.6850_6851delinsCA p.S2284H Missense 42/48 - 1
X-153580308-GA-TT c.6850_6851delinsAA p.S2284N Missense 42/48 - 1
X-153580308-G-C c.6851C>G p.S2284C Missense 42/48 - 1
X-153580308-G-T c.6851C>A p.S2284Y Missense 42/48 - 1
X-153580309-A-C c.6850T>G p.S2284A Missense 42/48 - 1
X-153580309-A-G c.6850T>C p.S2284P Missense 42/48 - 1
X-153580309-A-T c.6850T>A p.S2284T Missense 42/48 - 1
X-153580310-GA-CC c.6848_6849delinsGG p.I2283R Missense 42/48 - 1
X-153580310-GA-CT c.6848_6849delinsAG p.I2283K Missense 42/48 - 1
X-153580310-GAT-CCA c.6847_6849delinsTGG p.I2283W Missense 42/48 - 1
X-153580310-GAT-CTC c.6847_6849delinsGAG p.I2283E Missense 42/48 - 1
X-153580310-GAT-TTG c.6847_6849delinsCAA p.I2283Q Missense 42/48 - 1
X-153580310-G-C c.6849C>G p.I2283M Missense 42/48 - 1
X-153580311-A-C c.6848T>G p.I2283S Missense 42/48 - 1
X-153580311-A-G c.6848T>C p.I2283T Missense 42/48 - 1
X-153580311-A-T c.6848T>A p.I2283N Missense 42/48 - 1
X-153580311-AT-CA c.6847_6848delinsTG p.I2283C Missense 42/48 - 2
X-153580311-AT-CC c.6847_6848delinsGG p.I2283G Missense 42/48 - 1
X-153580311-AT-GC c.6847_6848delinsGC p.I2283A Missense 42/48 - 1
X-153580311-AT-GG c.6847_6848delinsCC p.I2283P Missense 42/48 - 1
X-153580311-AT-TA c.6847_6848delinsTA p.I2283Y Missense 42/48 - 1
X-153580311-AT-TC c.6847_6848delinsGA p.I2283D Missense 42/48 - 1
X-153580311-AT-TG c.6847_6848delinsCA p.I2283H Missense 42/48 - 1
X-153580312-T-A c.6847A>T p.I2283F Missense 42/48 - 1
X-153580312-T-C c.6847A>G p.I2283V Missense 42/48 - 1
X-153580312-T-G c.6847A>C p.I2283L Missense 42/48 - 3
X-153580313-C-A c.6846G>T p.E2282D Missense 42/48 - 1
X-153580313-C-G c.6846G>C p.E2282D Missense 42/48 - 1
X-153580313-CTC-AAA c.6844_6846delinsTTT p.E2282F Missense 42/48 - 1
X-153580313-CTC-ACA c.6844_6846delinsTGT p.E2282C Missense 42/48 - 1
X-153580313-CTC-ATA c.6844_6846delinsTAT p.E2282Y Missense 42/48 - 1
X-153580313-CTC-ATG c.6844_6846delinsCAT p.E2282H Missense 42/48 - 1
X-153580313-CTC-GAT c.6844_6846delinsATC p.E2282I Missense 42/48 - 1
X-153580313-CTC-GTT c.6844_6846delinsAAC p.E2282N Missense 42/48 - 1
X-153580314-T-A c.6845A>T p.E2282V Missense 42/48 - 1
X-153580314-T-C c.6845A>G p.E2282G Missense 42/48 - 1
X-153580314-TC-AG c.6844_6845delinsCT p.E2282L Missense 42/48 - 1
X-153580314-TC-AT c.6844_6845delinsAT p.E2282M Missense 42/48 - 1
X-153580314-TC-CA c.6844_6845delinsTG p.E2282W Missense 42/48 - 1
X-153580314-TC-CT c.6844_6845delinsAG p.E2282R Missense 42/48 - 1
X-153580314-TC-GA c.6844_6845inv p.E2282S Missense 42/48 - 1
X-153580314-TC-GG c.6844_6845delinsCC p.E2282P Missense 42/48 - 1
X-153580314-TC-GT c.6844_6845delinsAC p.E2282T Missense 42/48 - 1
X-153580314-T-G c.6845A>C p.E2282A Missense 42/48 - 1
X-153580315-C-G c.6844G>C p.E2282Q Missense 42/48 - 1
X-153580315-C-T c.6844G>A p.E2282K Missense 42/48 - 4
X-153580316-AGC-CAT c.6841_6843delinsATG p.A2281M Missense 42/48 - 1
X-153580316-AGC-CCA c.6841_6843delinsTGG p.A2281W Missense 42/48 - 1
X-153580316-AGC-CTT c.6841_6843delinsAAG p.A2281K Missense 42/48 - 1
X-153580316-AG-CT c.6842_6843inv p.A2281E Missense 42/48 - 1
X-153580316-AGC-TTG c.6841_6843delinsCAA p.A2281Q Missense 42/48 - 1
X-153580317-G-A c.6842C>T p.A2281V Missense 42/48 - 2
X-153580317-G-C c.6842C>G p.A2281G Missense 42/48 - 1
X-153580317-GC-AA c.6841_6842delinsTT p.A2281F Missense 42/48 - 1
X-153580317-GC-AG c.6841_6842delinsCT p.A2281L Missense 42/48 - 1
X-153580317-GC-AT c.6841_6842delinsAT p.A2281I Missense 42/48 - 1
X-153580317-GC-CA c.6841_6842delinsTG p.A2281C Missense 42/48 - 1
X-153580317-GC-CG c.6841_6842delinsCG p.A2281R Missense 42/48 - 1
X-153580317-GC-TA c.6841_6842delinsTA p.A2281Y Missense 42/48 - 1
X-153580317-GC-TG c.6841_6842delinsCA p.A2281H Missense 42/48 - 1
X-153580317-GC-TT c.6841_6842delinsAA p.A2281N Missense 42/48 - 1
X-153580317-G-T c.6842C>A p.A2281D Missense 42/48 - 1
X-153580318-C-A c.6841G>T p.A2281S Missense 42/48 - 1
X-153580318-C-G c.6841G>C p.A2281P Missense 42/48 - 1
X-153580318-C-T c.6841G>A p.A2281T Missense 42/48 - 1
X-153580319-C-A c.6840G>T p.K2280N Missense 42/48 - 1
X-153580319-C-G c.6840G>C p.K2280N Missense 42/48 - 1
X-153580319-CT-GA c.6839_6840delinsTC p.K2280I Missense 42/48 - 1
X-153580319-CT-GC c.6839_6840delinsGC p.K2280S Missense 42/48 - 1
X-153580319-CTT-AAA c.6838_6840delinsTTT p.K2280F Missense 42/48 - 1
X-153580319-CTT-ACA c.6838_6840delinsTGT p.K2280C Missense 42/48 - 1
X-153580319-CTT-ATA c.6838_6840delinsTAT p.K2280Y Missense 42/48 - 1
X-153580319-CTT-ATG c.6838_6840delinsCAT p.K2280H Missense 42/48 - 1
X-153580319-CTT-GTC c.6838_6840delinsGAC p.K2280D Missense 42/48 - 1
X-153580320-T-A c.6839A>T p.K2280M Missense 42/48 - 1
X-153580320-T-C c.6839A>G p.K2280R Missense 42/48 - 1
X-153580320-T-G c.6839A>C p.K2280T Missense 42/48 - 1
X-153580320-TT-AC c.6838_6839delinsGT p.K2280V Missense 42/48 - 1
X-153580320-TT-AG c.6838_6839delinsCT p.K2280L Missense 42/48 - 1
X-153580320-TT-CA c.6838_6839delinsTG p.K2280W Missense 42/48 - 1
X-153580320-TT-CC c.6838_6839delinsGG p.K2280G Missense 42/48 - 1
X-153580320-TT-GC c.6838_6839delinsGC p.K2280A Missense 42/48 - 1
X-153580320-TT-GG c.6838_6839delinsCC p.K2280P Missense 42/48 - 1
X-153580321-T-C c.6838A>G p.K2280E Missense 42/48 - 1
X-153580321-T-G c.6838A>C p.K2280Q Missense 42/48 - 1
X-153580322-G-C c.6837C>G p.S2279R Missense 42/48 - 1
X-153580322-GC-CA c.6836_6837delinsTG p.S2279M Missense 42/48 - 1
X-153580322-GC-CT c.6836_6837delinsAG p.S2279K Missense 42/48 - 1
X-153580322-GCT-CCA c.6835_6837delinsTGG p.S2279W Missense 42/48 - 1
X-153580322-GCT-CTC c.6835_6837delinsGAG p.S2279E Missense 42/48 - 1
X-153580322-GCT-TTG c.6835_6837delinsCAA p.S2279Q Missense 42/48 - 1
X-153580322-G-T c.6837C>A p.S2279R Missense 42/48 - 1
X-153580324-T-G c.6835A>C p.S2279R Missense 42/48 - 1
X-153580323-C-A c.6836G>T p.S2279I Missense 42/48 - 1
X-153580323-C-G c.6836G>C p.S2279T Missense 42/48 - 1
X-153580323-C-T c.6836G>A p.S2279N Missense 42/48 - 1
X-153580323-CT-AA c.6835_6836delinsTT p.S2279F Missense 42/48 - 1
X-153580323-CT-AC c.6835_6836delinsGT p.S2279V Missense 42/48 - 1
X-153580323-CT-AG c.6835_6836inv p.S2279L Missense 42/48 - 1
X-153580323-CT-GC c.6835_6836delinsGC p.S2279A Missense 42/48 - 1
X-153580323-CT-GG c.6835_6836delinsCC p.S2279P Missense 42/48 - 1
X-153580323-CT-TA c.6835_6836delinsTA p.S2279Y Missense 42/48 - 1
X-153580323-CT-TC c.6835_6836delinsGA p.S2279D Missense 42/48 - 1
X-153580323-CT-TG c.6835_6836delinsCA p.S2279H Missense 42/48 - 1
X-153580324-T-A c.6835A>T p.S2279C Missense 42/48 - 1
X-153580324-T-C c.6835A>G p.S2279G Missense 42/48 - 1
X-153580325-GGG-CAT c.6832_6834delinsATG p.P2278M Missense 42/48 - 1
X-153580325-GGG-CCA c.6832_6834delinsTGG p.P2278W Missense 42/48 - 1
X-153580325-GGG-CTC c.6832_6834delinsGAG p.P2278E Missense 42/48 - 1
X-153580325-GGG-CTT c.6832_6834delinsAAG p.P2278K Missense 42/48 - 1
X-153580325-GG-TT c.6833_6834delinsAA p.P2278Q Missense 42/48 - 1
X-153580326-G-A c.6833C>T p.P2278L Missense 42/48 - 1
X-153580326-G-C c.6833C>G p.P2278R Missense 42/48 - 1
X-153580326-GG-AA c.6832_6833delinsTT p.P2278F Missense 42/48 - 1
X-153580326-GG-AC c.6832_6833delinsGT p.P2278V Missense 42/48 - 1
X-153580326-GG-AT c.6832_6833delinsAT p.P2278I Missense 42/48 - 1
X-153580326-GG-CA c.6832_6833delinsTG p.P2278C Missense 42/48 - 1
X-153580326-GG-CC c.6832_6833inv p.P2278G Missense 42/48 - 1
X-153580326-GG-TA c.6832_6833delinsTA p.P2278Y Missense 42/48 - 1
X-153580326-GG-TC c.6832_6833delinsGA p.P2278D Missense 42/48 - 1
X-153580326-GG-TT c.6832_6833delinsAA p.P2278N Missense 42/48 - 1
X-153580326-G-T c.6833C>A p.P2278H Missense 42/48 - 1
X-153580327-G-A c.6832C>T p.P2278S Missense 42/48 - 1
X-153580327-G-C c.6832C>G p.P2278A Missense 42/48 - 1
X-153580327-G-T c.6832C>A p.P2278T Missense 42/48 - 1
X-153580328-GCC-CAT c.6829_6831delinsATG p.G2277M Missense 42/48 - 1
X-153580328-GCC-CCA c.6829_6831delinsTGG p.G2277W Missense 42/48 - 1
X-153580328-GCC-CTT c.6829_6831delinsAAG p.G2277K Missense 42/48 - 1
X-153580328-GC-CT c.6830_6831delinsAG p.G2277E Missense 42/48 - 1
X-153580328-GCC-TTG c.6829_6831delinsCAA p.G2277Q Missense 42/48 - 1
X-153580329-C-A c.6830G>T p.G2277V Missense 42/48 - 1
X-153580329-CC-AA c.6829_6830delinsTT p.G2277F Missense 42/48 - 1
X-153580329-CC-AG c.6829_6830delinsCT p.G2277L Missense 42/48 - 1
X-153580329-CC-AT c.6829_6830delinsAT p.G2277I Missense 42/48 - 1
X-153580329-CC-GG c.6829_6830inv p.G2277P Missense 42/48 - 1
X-153580329-CC-GT c.6829_6830delinsAC p.G2277T Missense 42/48 - 1
X-153580329-CC-TA c.6829_6830delinsTA p.G2277Y Missense 42/48 - 1
X-153580329-CC-TG c.6829_6830delinsCA p.G2277H Missense 42/48 - 1
X-153580329-CC-TT c.6829_6830delinsAA p.G2277N Missense 42/48 - 1
X-153580329-C-G c.6830G>C p.G2277A Missense 42/48 - 1
X-153580329-C-T c.6830G>A p.G2277D Missense 42/48 - 1
X-153580330-C-A c.6829G>T p.G2277C Missense 42/48 - 1
X-153580330-C-G c.6829G>C p.G2277R Missense 42/48 - 1
X-153580330-C-T c.6829G>A p.G2277S Missense 42/48 - 2
X-153580331-C-A c.6828G>T p.E2276D Missense 42/48 - 1
X-153580331-C-G c.6828G>C p.E2276D Missense 42/48 - 1
X-153580331-CTC-AAA c.6826_6828delinsTTT p.E2276F Missense 42/48 - 1
X-153580331-CTC-ACA c.6826_6828delinsTGT p.E2276C Missense 42/48 - 1
X-153580331-CTC-ATA c.6826_6828delinsTAT p.E2276Y Missense 42/48 - 1
X-153580331-CTC-ATG c.6826_6828delinsCAT p.E2276H Missense 42/48 - 1
X-153580331-CTC-GAT c.6826_6828delinsATC p.E2276I Missense 42/48 - 1
X-153580331-CTC-GTT c.6826_6828delinsAAC p.E2276N Missense 42/48 - 1
X-153580332-T-A c.6827A>T p.E2276V Missense 42/48 - 1
X-153580332-T-C c.6827A>G p.E2276G Missense 42/48 - 1
X-153580332-TC-AG c.6826_6827delinsCT p.E2276L Missense 42/48 - 1
X-153580332-TC-AT c.6826_6827delinsAT p.E2276M Missense 42/48 - 1
X-153580332-TC-CA c.6826_6827delinsTG p.E2276W Missense 42/48 - 1
X-153580332-TC-CT c.6826_6827delinsAG p.E2276R Missense 42/48 - 1
X-153580332-TC-GA c.6826_6827inv p.E2276S Missense 42/48 - 1
X-153580332-TC-GG c.6826_6827delinsCC p.E2276P Missense 42/48 - 1
X-153580332-TC-GT c.6826_6827delinsAC p.E2276T Missense 42/48 - 1
X-153580332-T-G c.6827A>C p.E2276A Missense 42/48 - 1
X-153580333-C-G c.6826G>C p.E2276Q Missense 42/48 - 1
X-153580333-C-T c.6826G>A p.E2276K Missense 42/48 - 1
X-153580334-GAC-CAT c.6823_6825delinsATG p.V2275M Missense 42/48 - 1
X-153580334-GAC-CCA c.6823_6825delinsTGG p.V2275W Missense 42/48 - 1
X-153580334-GAC-CTT c.6823_6825delinsAAG p.V2275K Missense 42/48 - 1
X-153580334-GA-CT c.6824_6825delinsAG p.V2275E Missense 42/48 - 1
X-153580334-GAC-TTG c.6823_6825delinsCAA p.V2275Q Missense 42/48 - 1
X-153580335-A-C c.6824T>G p.V2275G Missense 42/48 - 1
X-153580335-AC-CA c.6823_6824delinsTG p.V2275C Missense 42/48 - 1
X-153580335-AC-CG c.6823_6824delinsCG p.V2275R Missense 42/48 - 1
X-153580335-AC-CT c.6823_6824delinsAG p.V2275S Missense 42/48 - 1
X-153580335-AC-GG c.6823_6824delinsCC p.V2275P Missense 42/48 - 1
X-153580335-AC-GT c.6823_6824inv p.V2275T Missense 42/48 - 1
X-153580335-AC-TA c.6823_6824delinsTA p.V2275Y Missense 42/48 - 1
X-153580335-AC-TG c.6823_6824delinsCA p.V2275H Missense 42/48 - 1
X-153580335-AC-TT c.6823_6824delinsAA p.V2275N Missense 42/48 - 1
X-153580335-A-G c.6824T>C p.V2275A Missense 42/48 - 1
X-153580335-A-T c.6824T>A p.V2275D Missense 42/48 - 1
X-153580336-C-A c.6823G>T p.V2275F Missense 42/48 - 1
X-153580336-C-G c.6823G>C p.V2275L Missense 42/48 - 1
X-153580336-C-T c.6823G>A p.V2275I Missense 42/48 - 1
X-153580337-AGC-CAT c.6820_6822delinsATG p.A2274M Missense 42/48 - 1
X-153580337-AGC-CCA c.6820_6822delinsTGG p.A2274W Missense 42/48 - 1
X-153580337-AGC-CTT c.6820_6822delinsAAG p.A2274K Missense 42/48 - 1
X-153580337-AG-CT c.6821_6822inv p.A2274E Missense 42/48 - 1
X-153580337-AGC-TTG c.6820_6822delinsCAA p.A2274Q Missense 42/48 - 1
X-153580338-G-A c.6821C>T p.A2274V Missense 42/48 - 3
X-153580338-G-C c.6821C>G p.A2274G Missense 42/48 - 2
X-153580338-GC-AA c.6820_6821delinsTT p.A2274F Missense 42/48 - 1
X-153580338-GC-AG c.6820_6821delinsCT p.A2274L Missense 42/48 - 1
X-153580338-GC-AT c.6820_6821delinsAT p.A2274I Missense 42/48 - 1
X-153580338-GC-CA c.6820_6821delinsTG p.A2274C Missense 42/48 - 1
X-153580338-GC-CG c.6820_6821delinsCG p.A2274R Missense 42/48 - 1
X-153580338-GC-TA c.6820_6821delinsTA p.A2274Y Missense 42/48 - 1
X-153580338-GC-TG c.6820_6821delinsCA p.A2274H Missense 42/48 - 1
X-153580338-GC-TT c.6820_6821delinsAA p.A2274N Missense 42/48 - 1
X-153580338-G-T c.6821C>A p.A2274D Missense 42/48 - 1
X-153580339-C-A c.6820G>T p.A2274S Missense 42/48 - 1
X-153580339-C-G c.6820G>C p.A2274P Missense 42/48 - 1
X-153580339-C-T c.6820G>A p.A2274T Missense 42/48 - 1
X-153580340-AA-CC c.6818_6819delinsGG p.I2273R Missense 42/48 - 1
X-153580340-AA-CT c.6818_6819delinsAG p.I2273K Missense 42/48 - 1
X-153580340-AAT-CCA c.6817_6819delinsTGG p.I2273W Missense 42/48 - 1
X-153580340-AAT-CTC c.6817_6819delinsGAG p.I2273E Missense 42/48 - 1
X-153580340-AAT-TTG c.6817_6819delinsCAA p.I2273Q Missense 42/48 - 1
X-153580340-A-C c.6819T>G p.I2273M Missense 42/48 - 1
X-153580341-A-C c.6818T>G p.I2273S Missense 42/48 - 1
X-153580341-A-G c.6818T>C p.I2273T Missense 42/48 - 1
X-153580341-A-T c.6818T>A p.I2273N Missense 42/48 - 1
X-153580341-AT-CA c.6817_6818delinsTG p.I2273C Missense 42/48 - 1
X-153580341-AT-CC c.6817_6818delinsGG p.I2273G Missense 42/48 - 1
X-153580341-AT-GC c.6817_6818delinsGC p.I2273A Missense 42/48 - 1
X-153580341-AT-GG c.6817_6818delinsCC p.I2273P Missense 42/48 - 1
X-153580341-AT-TA c.6817_6818delinsTA p.I2273Y Missense 42/48 - 1
X-153580341-AT-TC c.6817_6818delinsGA p.I2273D Missense 42/48 - 1
X-153580341-AT-TG c.6817_6818delinsCA p.I2273H Missense 42/48 - 1
X-153580342-T-A c.6817A>T p.I2273F Missense 42/48 - 1
X-153580342-T-C c.6817A>G p.I2273V Missense 42/48 - 1
X-153580342-T-G c.6817A>C p.I2273L Missense 42/48 - 1
X-153580343-GGC-CAT c.6814_6816delinsATG p.A2272M Missense 42/48 - 1
X-153580343-GGC-CCA c.6814_6816delinsTGG p.A2272W Missense 42/48 - 1
X-153580343-GGC-CTT c.6814_6816delinsAAG p.A2272K Missense 42/48 - 1
X-153580343-GG-CT c.6815_6816delinsAG p.A2272E Missense 42/48 - 1
X-153580343-GGC-TTG c.6814_6816delinsCAA p.A2272Q Missense 42/48 - 1
X-153580344-G-A c.6815C>T p.A2272V Missense 42/48 - 2
X-153580344-G-C c.6815C>G p.A2272G Missense 42/48 - 1
X-153580344-GC-AA c.6814_6815delinsTT p.A2272F Missense 42/48 - 1
X-153580344-GC-AG c.6814_6815delinsCT p.A2272L Missense 42/48 - 1
X-153580344-GC-AT c.6814_6815delinsAT p.A2272I Missense 42/48 - 1
X-153580344-GC-CA c.6814_6815delinsTG p.A2272C Missense 42/48 - 1
X-153580344-GC-CG c.6814_6815delinsCG p.A2272R Missense 42/48 - 1
X-153580344-GC-TA c.6814_6815delinsTA p.A2272Y Missense 42/48 - 1
X-153580344-GC-TG c.6814_6815delinsCA p.A2272H Missense 42/48 - 1
X-153580344-GC-TT c.6814_6815delinsAA p.A2272N Missense 42/48 - 1
X-153580344-G-T c.6815C>A p.A2272D Missense 42/48 - 1
X-153580345-C-A c.6814G>T p.A2272S Missense 42/48 - 1
X-153580345-C-G c.6814G>C p.A2272P Missense 42/48 - 1
X-153580345-C-T c.6814G>A p.A2272T Missense 42/48 - 1
X-153580346-CA-AT c.6812_6813delinsAT p.L2271H Missense 42/48 - 1
X-153580346-CAG-AAA c.6811_6813delinsTTT p.L2271F Missense 42/48 - 1
X-153580346-CAG-ACA c.6811_6813delinsTGT p.L2271C Missense 42/48 - 1
X-153580346-CAG-ATA c.6811_6813delinsTAT p.L2271Y Missense 42/48 - 1
X-153580346-CAG-GAT c.6811_6813delinsATC p.L2271I Missense 42/48 - 1
X-153580346-CAG-GTC c.6811_6813delinsGAC p.L2271D Missense 42/48 - 1
X-153580346-CAG-GTT c.6811_6813delinsAAC p.L2271N Missense 42/48 - 1
X-153580347-A-C c.6812T>G p.L2271R Missense 42/48 - 1
X-153580347-A-G c.6812T>C p.L2271P Missense 42/48 - 1
X-153580347-AG-CA c.6811_6812delinsTG p.L2271W Missense 42/48 - 1
X-153580347-AG-CC c.6811_6812delinsGG p.L2271G Missense 42/48 - 1
X-153580347-AG-GA c.6811_6812delinsTC p.L2271S Missense 42/48 - 1
X-153580347-AG-GC c.6811_6812delinsGC p.L2271A Missense 42/48 - 1
X-153580347-AG-GT c.6811_6812delinsAC p.L2271T Missense 42/48 - 1
X-153580347-AG-TC c.6811_6812delinsGA p.L2271E Missense 42/48 - 1
X-153580347-AG-TT c.6811_6812delinsAA p.L2271K Missense 42/48 - 1
X-153580347-A-T c.6812T>A p.L2271Q Missense 42/48 - 1
X-153580348-G-C c.6811C>G p.L2271V Missense 42/48 - 1
X-153580348-G-T c.6811C>A p.L2271M Missense 42/48 - 1
X-153580349-G-A c.6810C>T p.G2270= Synonymous 42/48 - 1
X-153580349-G-C c.6810C>G p.G2270= Synonymous 42/48 - 1
X-153580349-GCC-CAT c.6808_6810delinsATG p.G2270M Missense 42/48 - 1
X-153580349-GCC-CCA c.6808_6810delinsTGG p.G2270W Missense 42/48 - 1
X-153580349-GCC-CTT c.6808_6810delinsAAG p.G2270K Missense 42/48 - 1
X-153580349-GC-CT c.6809_6810delinsAG p.G2270E Missense 42/48 - 1
X-153580349-GCC-TTG c.6808_6810delinsCAA p.G2270Q Missense 42/48 - 1
X-153580349-G-T c.6810C>A p.G2270= Synonymous 42/48 - 1
X-153580350-C-A c.6809G>T p.G2270V Missense 42/48 - 1
X-153580350-CC-AA c.6808_6809delinsTT p.G2270F Missense 42/48 - 1
X-153580350-CC-AG c.6808_6809delinsCT p.G2270L Missense 42/48 - 1
X-153580350-CC-AT c.6808_6809delinsAT p.G2270I Missense 42/48 - 1
X-153580350-CC-GG c.6808_6809inv p.G2270P Missense 42/48 - 1
X-153580350-CC-GT c.6808_6809delinsAC p.G2270T Missense 42/48 - 1
X-153580350-CC-TA c.6808_6809delinsTA p.G2270Y Missense 42/48 - 1
X-153580350-CC-TG c.6808_6809delinsCA p.G2270H Missense 42/48 - 1
X-153580350-CC-TT c.6808_6809delinsAA p.G2270N Missense 42/48 - 1
X-153580350-C-G c.6809G>C p.G2270A Missense 42/48 - 1
X-153580350-C-T c.6809G>A p.G2270D Missense 42/48 - 1
X-153580351-C-A c.6808G>T p.G2270C Missense 42/48 - 1
X-153580351-C-G c.6808G>C p.G2270R Missense 42/48 - 1
X-153580351-C-T c.6808G>A p.G2270S Missense 42/48 - 1
X-153580352-TCC-AAA c.6805_6807delinsTTT p.G2269F Missense 42/48 - 1
X-153580352-TCC-ACA c.6805_6807delinsTGT p.G2269C Missense 42/48 - 1
X-153580352-TCC-ATA c.6805_6807delinsTAT p.G2269Y Missense 42/48 - 1
X-153580352-TCC-ATG c.6805_6807delinsCAT p.G2269H Missense 42/48 - 1
X-153580352-TCC-CAT c.6805_6807delinsATG p.G2269M Missense 42/48 - 1
X-153580352-TCC-CCA c.6805_6807delinsTGG p.G2269W Missense 42/48 - 1
X-153580352-TCC-GCT c.6805_6807delinsAGC p.G2269S Missense 42/48 - 1
X-153580352-TCC-GTT c.6805_6807delinsAAC p.G2269N Missense 42/48 - 1
X-153580352-TC-GT c.6806_6807delinsAC p.G2269D Missense 42/48 - 1
X-153580353-C-A c.6806G>T p.G2269V Missense 42/48 - 1
X-153580353-CC-AG c.6805_6806delinsCT p.G2269L Missense 42/48 - 1
X-153580353-CC-AT c.6805_6806delinsAT p.G2269I Missense 42/48 - 1
X-153580353-CC-GG c.6805_6806inv p.G2269P Missense 42/48 - 1
X-153580353-CC-GT c.6805_6806delinsAC p.G2269T Missense 42/48 - 1
X-153580353-CC-TG c.6805_6806delinsCA p.G2269Q Missense 42/48 - 1
X-153580353-CC-TT c.6805_6806delinsAA p.G2269K Missense 42/48 - 1
X-153580353-C-G c.6806G>C p.G2269A Missense 42/48 - 1
X-153580353-C-T c.6806G>A p.G2269E Missense 42/48 - 1
X-153580354-C-G c.6805G>C p.G2269R Missense 42/48 - 1
X-153580354-C-T c.6805G>A p.G2269R Missense 42/48 - 1
X-153580355-AGC-CAT c.6802_6804delinsATG p.A2268M Missense 42/48 - 1
X-153580355-AGC-CCA c.6802_6804delinsTGG p.A2268W Missense 42/48 - 1
X-153580355-AGC-CTT c.6802_6804delinsAAG p.A2268K Missense 42/48 - 1
X-153580355-AG-CT c.6803_6804inv p.A2268E Missense 42/48 - 1
X-153580355-AGC-TTG c.6802_6804delinsCAA p.A2268Q Missense 42/48 - 1
X-153580356-G-A c.6803C>T p.A2268V Missense 42/48 - 1
X-153580356-G-C c.6803C>G p.A2268G Missense 42/48 - 1
X-153580356-GC-AA c.6802_6803delinsTT p.A2268F Missense 42/48 - 1
X-153580356-GC-AG c.6802_6803delinsCT p.A2268L Missense 42/48 - 1
X-153580356-GC-AT c.6802_6803delinsAT p.A2268I Missense 42/48 - 1
X-153580356-GC-CA c.6802_6803delinsTG p.A2268C Missense 42/48 - 1
X-153580356-GC-CG c.6802_6803delinsCG p.A2268R Missense 42/48 - 1
X-153580356-GC-TA c.6802_6803delinsTA p.A2268Y Missense 42/48 - 1
X-153580356-GC-TG c.6802_6803delinsCA p.A2268H Missense 42/48 - 1
X-153580356-GC-TT c.6802_6803delinsAA p.A2268N Missense 42/48 - 1
X-153580356-G-T c.6803C>A p.A2268D Missense 42/48 - 1
X-153580357-C-A c.6802G>T p.A2268S Missense 42/48 - 1
X-153580357-C-G c.6802G>C p.A2268P Missense 42/48 - 1
X-153580357-C-T c.6802G>A p.A2268T Missense 42/48 - 1
X-153580358-ACC-CAT c.6799_6801delinsATG p.G2267M Missense 42/48 - 1
X-153580358-ACC-CCA c.6799_6801delinsTGG p.G2267W Missense 42/48 - 1
X-153580358-ACC-CTT c.6799_6801delinsAAG p.G2267K Missense 42/48 - 1
X-153580358-AC-CT c.6800_6801delinsAG p.G2267E Missense 42/48 - 1
X-153580358-ACC-TTG c.6799_6801delinsCAA p.G2267Q Missense 42/48 - 1
X-153580358-A-G c.6801T>C p.G2267= Synonymous 42/48 - 1
X-153580359-C-A c.6800G>T p.G2267V Missense 42/48 - 1
X-153580359-CC-AA c.6799_6800delinsTT p.G2267F Missense 42/48 - 1
X-153580359-CC-AG c.6799_6800delinsCT p.G2267L Missense 42/48 - 1
X-153580359-CC-AT c.6799_6800delinsAT p.G2267I Missense 42/48 - 1
X-153580359-CC-GG c.6799_6800inv p.G2267P Missense 42/48 - 1
X-153580359-CC-GT c.6799_6800delinsAC p.G2267T Missense 42/48 - 1
X-153580359-CC-TA c.6799_6800delinsTA p.G2267Y Missense 42/48 - 1
X-153580359-CC-TG c.6799_6800delinsCA p.G2267H Missense 42/48 - 1
X-153580359-CC-TT c.6799_6800delinsAA p.G2267N Missense 42/48 - 1
X-153580359-C-G c.6800G>C p.G2267A Missense 42/48 - 2
X-153580359-C-T c.6800G>A p.G2267D Missense 42/48 - 1
X-153580360-C-A c.6799G>T p.G2267C Missense 42/48 - 1
X-153580360-C-G c.6799G>C p.G2267R Missense 42/48 - 1
X-153580360-C-T c.6799G>A p.G2267S Missense 42/48 - 1
X-153580361-AGC-CAT c.6796_6798delinsATG p.A2266M Missense 42/48 - 1
X-153580361-AGC-CCA c.6796_6798delinsTGG p.A2266W Missense 42/48 - 1
X-153580361-AGC-CTT c.6796_6798delinsAAG p.A2266K Missense 42/48 - 1
X-153580361-AG-CT c.6797_6798inv p.A2266E Missense 42/48 - 1
X-153580361-AGC-TTG c.6796_6798delinsCAA p.A2266Q Missense 42/48 - 1
X-153580362-G-A c.6797C>T p.A2266V Missense 42/48 - 1
X-153580362-G-C c.6797C>G p.A2266G Missense 42/48 - 1
X-153580362-GC-AA c.6796_6797delinsTT p.A2266F Missense 42/48 - 1
X-153580362-GC-AG c.6796_6797delinsCT p.A2266L Missense 42/48 - 1
X-153580362-GC-AT c.6796_6797delinsAT p.A2266I Missense 42/48 - 1
X-153580362-GC-CA c.6796_6797delinsTG p.A2266C Missense 42/48 - 1
X-153580362-GC-CG c.6796_6797delinsCG p.A2266R Missense 42/48 - 1
X-153580362-GC-TA c.6796_6797delinsTA p.A2266Y Missense 42/48 - 1
X-153580362-GC-TG c.6796_6797delinsCA p.A2266H Missense 42/48 - 1
X-153580362-GC-TT c.6796_6797delinsAA p.A2266N Missense 42/48 - 1
X-153580362-G-T c.6797C>A p.A2266D Missense 42/48 - 1
X-153580363-C-A c.6796G>T p.A2266S Missense 42/48 - 1
X-153580363-C-G c.6796G>C p.A2266P Missense 42/48 - 1
X-153580363-C-T c.6796G>A p.A2266T Missense 42/48 - 1
X-153580364-T-A c.6795A>T p.E2265D Missense 42/48 - 1
X-153580364-T-G c.6795A>C p.E2265D Missense 42/48 - 1
X-153580364-TTC-AAA c.6793_6795delinsTTT p.E2265F Missense 42/48 - 1
X-153580364-TTC-ACA c.6793_6795delinsTGT p.E2265C Missense 42/48 - 1
X-153580364-TTC-ATA c.6793_6795delinsTAT p.E2265Y Missense 42/48 - 1
X-153580364-TTC-ATG c.6793_6795delinsCAT p.E2265H Missense 42/48 - 1
X-153580364-TTC-CAT c.6793_6795delinsATG p.E2265M Missense 42/48 - 1
X-153580364-TTC-CCA c.6793_6795delinsTGG p.E2265W Missense 42/48 - 1
X-153580364-TTC-GTT c.6793_6795delinsAAC p.E2265N Missense 42/48 - 1
X-153580365-T-A c.6794A>T p.E2265V Missense 42/48 - 1
X-153580365-T-C c.6794A>G p.E2265G Missense 42/48 - 1
X-153580365-TC-AG c.6793_6794delinsCT p.E2265L Missense 42/48 - 1
X-153580365-TC-AT c.6793_6794delinsAT p.E2265I Missense 42/48 - 1
X-153580365-TC-CT c.6793_6794delinsAG p.E2265R Missense 42/48 - 1
X-153580365-TC-GA c.6793_6794inv p.E2265S Missense 42/48 - 1
X-153580365-TC-GG c.6793_6794delinsCC p.E2265P Missense 42/48 - 1
X-153580365-TC-GT c.6793_6794delinsAC p.E2265T Missense 42/48 - 1
X-153580365-T-G c.6794A>C p.E2265A Missense 42/48 - 1
X-153580366-C-G c.6793G>C p.E2265Q Missense 42/48 - 1
X-153580366-C-T c.6793G>A p.E2265K Missense 42/48 - 1
X-153580367-CC-AT c.6791_6792delinsAT p.R2264H Missense 42/48 - 1
X-153580367-CCG-AAA c.6790_6792delinsTTT p.R2264F Missense 42/48 - 1
X-153580367-CCG-ACA c.6790_6792delinsTGT p.R2264C Missense 42/48 - 1
X-153580367-CCG-ATA c.6790_6792delinsTAT p.R2264Y Missense 42/48 - 1
X-153580367-CCG-GAT c.6790_6792delinsATC p.R2264I Missense 42/48 - 1
X-153580367-CCG-GCT c.6790_6792delinsAGC p.R2264S Missense 42/48 - 1
X-153580367-CCG-GTC c.6790_6792delinsGAC p.R2264D Missense 42/48 - 1
X-153580367-CCG-GTT c.6790_6792delinsAAC p.R2264N Missense 42/48 - 1
X-153580368-C-A c.6791G>T p.R2264L Missense 42/48 - 1
X-153580368-C-G c.6791G>C p.R2264P Missense 42/48 - 1
X-153580368-CG-AC c.6790_6791delinsGT p.R2264V Missense 42/48 - 1
X-153580368-CG-AT c.6790_6791delinsAT p.R2264M Missense 42/48 - 1
X-153580368-CG-GC c.6790_6791delinsGC p.R2264A Missense 42/48 - 1
X-153580368-CG-GT c.6790_6791delinsAC p.R2264T Missense 42/48 - 1
X-153580368-CG-TC c.6790_6791delinsGA p.R2264E Missense 42/48 - 1
X-153580368-CG-TT c.6790_6791delinsAA p.R2264K Missense 42/48 - 1
X-153580368-C-T c.6791G>A p.R2264Q Missense 42/48 - 1
X-153580369-G-A c.6790C>T p.R2264W Missense 42/48 - 2
X-153580369-G-C c.6790C>G p.R2264G Missense 42/48 - 1
X-153580370-G-A c.6789C>T p.T2263= Synonymous 42/48 - 1
X-153580370-GG-CA c.6788_6789delinsTG p.T2263M Missense 42/48 - 1
X-153580370-GG-CC c.6788_6789inv p.T2263R Missense 42/48 - 1
X-153580370-GG-CT c.6788_6789delinsAG p.T2263K Missense 42/48 - 1
X-153580370-GGT-CCA c.6787_6789delinsTGG p.T2263W Missense 42/48 - 1
X-153580370-GGT-CTC c.6787_6789delinsGAG p.T2263E Missense 42/48 - 1
X-153580370-GGT-TTG c.6787_6789delinsCAA p.T2263Q Missense 42/48 - 1
X-153580371-G-A c.6788C>T p.T2263I Missense 42/48 - 1
X-153580371-G-C c.6788C>G p.T2263S Missense 42/48 - 1
X-153580371-G-T c.6788C>A p.T2263N Missense 42/48 - 1
X-153580371-GT-AA c.6787_6788delinsTT p.T2263F Missense 42/48 - 1
X-153580371-GT-AC c.6787_6788inv p.T2263V Missense 42/48 - 1
X-153580371-GT-AG c.6787_6788delinsCT p.T2263L Missense 42/48 - 1
X-153580371-GT-CA c.6787_6788delinsTG p.T2263C Missense 42/48 - 1
X-153580371-GT-CC c.6787_6788delinsGG p.T2263G Missense 42/48 - 1
X-153580371-GT-TA c.6787_6788delinsTA p.T2263Y Missense 42/48 - 1
X-153580371-GT-TC c.6787_6788delinsGA p.T2263D Missense 42/48 - 1
X-153580371-GT-TG c.6787_6788delinsCA p.T2263H Missense 42/48 - 1
X-153580372-T-A c.6787A>T p.T2263S Missense 42/48 - 1
X-153580372-T-C c.6787A>G p.T2263A Missense 42/48 - 1
X-153580372-T-G c.6787A>C p.T2263P Missense 42/48 - 2
X-153580373-C-A c.6786G>T p.W2262C Missense 42/48 - 1
X-153580373-CC-AA c.6785_6786delinsTT p.W2262F Missense 42/48 - 1
X-153580373-CCA-ATG c.6784_6786delinsCAT p.W2262H Missense 42/48 - 1
X-153580373-CCA-GAT c.6784_6786delinsATC p.W2262I Missense 42/48 - 1
X-153580373-CCA-GTC c.6784_6786delinsGAC p.W2262D Missense 42/48 - 1
X-153580373-CCA-GTT c.6784_6786delinsAAC p.W2262N Missense 42/48 - 1
X-153580373-CC-AT c.6785_6786delinsAT p.W2262Y Missense 42/48 - 1
X-153580373-C-G c.6786G>C p.W2262C Missense 42/48 - 1
X-153580374-C-A c.6785G>T p.W2262L Missense 42/48 - 1
X-153580374-CA-AC c.6784_6785delinsGT p.W2262V Missense 42/48 - 1
X-153580374-CA-AT c.6784_6785delinsAT p.W2262M Missense 42/48 - 1
X-153580374-CA-GC c.6784_6785delinsGC p.W2262A Missense 42/48 - 1
X-153580374-CA-GG c.6784_6785delinsCC p.W2262P Missense 42/48 - 1
X-153580374-CA-GT c.6784_6785delinsAC p.W2262T Missense 42/48 - 1
X-153580374-CA-TC c.6784_6785delinsGA p.W2262E Missense 42/48 - 1
X-153580374-CA-TG c.6784_6785inv p.W2262Q Missense 42/48 - 1
X-153580374-CA-TT c.6784_6785delinsAA p.W2262K Missense 42/48 - 1
X-153580374-C-G c.6785G>C p.W2262S Missense 42/48 - 1
X-153580375-A-C c.6784T>G p.W2262G Missense 42/48 - 1
X-153580375-A-G c.6784T>C p.W2262R Missense 42/48 - 1
X-153580375-A-T c.6784T>A p.W2262R Missense 42/48 - 1
X-153580376-GA-CC c.6782_6783delinsGG p.I2261R Missense 42/48 - 1
X-153580376-GA-CT c.6782_6783delinsAG p.I2261K Missense 42/48 - 1
X-153580376-GAT-CCA c.6781_6783delinsTGG p.I2261W Missense 42/48 - 1
X-153580376-GAT-CTC c.6781_6783delinsGAG p.I2261E Missense 42/48 - 1
X-153580376-GAT-TTG c.6781_6783delinsCAA p.I2261Q Missense 42/48 - 1
X-153580376-G-C c.6783C>G p.I2261M Missense 42/48 - 1
X-153580377-A-C c.6782T>G p.I2261S Missense 42/48 - 1
X-153580377-A-G c.6782T>C p.I2261T Missense 42/48 - 1
X-153580377-A-T c.6782T>A p.I2261N Missense 42/48 - 1
X-153580377-AT-CA c.6781_6782delinsTG p.I2261C Missense 42/48 - 1
X-153580377-AT-CC c.6781_6782delinsGG p.I2261G Missense 42/48 - 1
X-153580377-AT-GC c.6781_6782delinsGC p.I2261A Missense 42/48 - 1
X-153580377-AT-GG c.6781_6782delinsCC p.I2261P Missense 42/48 - 1
X-153580377-AT-TA c.6781_6782delinsTA p.I2261Y Missense 42/48 - 1
X-153580377-AT-TC c.6781_6782delinsGA p.I2261D Missense 42/48 - 1
X-153580377-AT-TG c.6781_6782delinsCA p.I2261H Missense 42/48 - 1
X-153580378-T-A c.6781A>T p.I2261F Missense 42/48 - 1
X-153580378-T-C c.6781A>G p.I2261V Missense 42/48 - 1
X-153580378-T-G c.6781A>C p.I2261L Missense 42/48 - 1
X-153580379-A-C c.6780T>G p.S2260R Missense 42/48 - 1
X-153580379-AC-CA c.6779_6780delinsTG p.S2260M Missense 42/48 - 1
X-153580379-AC-CT c.6779_6780delinsAG p.S2260K Missense 42/48 - 1
X-153580379-ACT-CCA c.6778_6780delinsTGG p.S2260W Missense 42/48 - 1
X-153580379-ACT-CTC c.6778_6780delinsGAG p.S2260E Missense 42/48 - 1
X-153580379-ACT-TTG c.6778_6780delinsCAA p.S2260Q Missense 42/48 - 1
X-153580379-A-T c.6780T>A p.S2260R Missense 42/48 - 1
X-153580381-T-G c.6778A>C p.S2260R Missense 42/48 - 1
X-153580380-C-A c.6779G>T p.S2260I Missense 42/48 - 1
X-153580380-C-G c.6779G>C p.S2260T Missense 42/48 - 1
X-153580380-C-T c.6779G>A p.S2260N Missense 42/48 - 1
X-153580380-CT-AA c.6778_6779delinsTT p.S2260F Missense 42/48 - 1
X-153580380-CT-AC c.6778_6779delinsGT p.S2260V Missense 42/48 - 1
X-153580380-CT-AG c.6778_6779inv p.S2260L Missense 42/48 - 1
X-153580380-CT-GC c.6778_6779delinsGC p.S2260A Missense 42/48 - 1
X-153580380-CT-GG c.6778_6779delinsCC p.S2260P Missense 42/48 - 1
X-153580380-CT-TA c.6778_6779delinsTA p.S2260Y Missense 42/48 - 1
X-153580380-CT-TC c.6778_6779delinsGA p.S2260D Missense 42/48 - 1
X-153580380-CT-TG c.6778_6779delinsCA p.S2260H Missense 42/48 - 1
X-153580381-T-A c.6778A>T p.S2260C Missense 42/48 - 2
X-153580381-T-C c.6778A>G p.S2260G Missense 42/48 - 1
X-153580382-G-A c.6777C>T p.F2259= Synonymous 42/48 - 1
X-153580382-GAA-CAT c.6775_6777delinsATG p.F2259M Missense 42/48 - 1
X-153580382-GAA-CTC c.6775_6777delinsGAG p.F2259E Missense 42/48 - 1
X-153580382-GAA-CTT c.6775_6777delinsAAG p.F2259K Missense 42/48 - 1
X-153580382-GAA-TTG c.6775_6777delinsCAA p.F2259Q Missense 42/48 - 1
X-153580382-GA-CC c.6776_6777delinsGG p.F2259W Missense 42/48 - 1
X-153580383-AA-CC c.6775_6776delinsGG p.F2259G Missense 42/48 - 1
X-153580383-AA-CG c.6775_6776delinsCG p.F2259R Missense 42/48 - 1
X-153580383-AA-GC c.6775_6776delinsGC p.F2259A Missense 42/48 - 1
X-153580383-AA-GG c.6775_6776delinsCC p.F2259P Missense 42/48 - 1
X-153580383-AA-GT c.6775_6776delinsAC p.F2259T Missense 42/48 - 1
X-153580383-AA-TC c.6775_6776delinsGA p.F2259D Missense 42/48 - 1
X-153580383-AA-TG c.6775_6776delinsCA p.F2259H Missense 42/48 - 1
X-153580383-AA-TT c.6775_6776inv p.F2259N Missense 42/48 - 1
X-153580383-A-C c.6776T>G p.F2259C Missense 42/48 - 1
X-153580383-A-G c.6776T>C p.F2259S Missense 42/48 - 1
X-153580383-A-T c.6776T>A p.F2259Y Missense 42/48 - 1
X-153580382-G-C c.6777C>G p.F2259L Missense 42/48 - 1
X-153580382-G-T c.6777C>A p.F2259L Missense 42/48 - 2
X-153580384-A-C c.6775T>G p.F2259V Missense 42/48 - 1
X-153580384-A-G c.6775T>C p.F2259L Missense 42/48 - 1
X-153580384-A-T c.6775T>A p.F2259I Missense 42/48 - 1
X-153580385-T-A c.6774A>T p.E2258D Missense 42/48 - 1
X-153580385-T-G c.6774A>C p.E2258D Missense 42/48 - 1
X-153580385-TTC-AAA c.6772_6774delinsTTT p.E2258F Missense 42/48 - 1
X-153580385-TTC-ACA c.6772_6774delinsTGT p.E2258C Missense 42/48 - 1
X-153580385-TTC-ATA c.6772_6774delinsTAT p.E2258Y Missense 42/48 - 1
X-153580385-TTC-ATG c.6772_6774delinsCAT p.E2258H Missense 42/48 - 1
X-153580385-TTC-CAT c.6772_6774delinsATG p.E2258M Missense 42/48 - 1
X-153580385-TTC-CCA c.6772_6774delinsTGG p.E2258W Missense 42/48 - 1
X-153580385-TTC-GTT c.6772_6774delinsAAC p.E2258N Missense 42/48 - 1
X-153580386-T-A c.6773A>T p.E2258V Missense 42/48 - 1
X-153580386-T-C c.6773A>G p.E2258G Missense 42/48 - 1
X-153580386-TC-AG c.6772_6773delinsCT p.E2258L Missense 42/48 - 1
X-153580386-TC-AT c.6772_6773delinsAT p.E2258I Missense 42/48 - 1
X-153580386-TC-CT c.6772_6773delinsAG p.E2258R Missense 42/48 - 1
X-153580386-TC-GA c.6772_6773inv p.E2258S Missense 42/48 - 1
X-153580386-TC-GG c.6772_6773delinsCC p.E2258P Missense 42/48 - 1
X-153580386-TC-GT c.6772_6773delinsAC p.E2258T Missense 42/48 - 1
X-153580386-T-G c.6773A>C p.E2258A Missense 42/48 - 1
X-153580387-C-A c.6772G>T p.E2258* Nonsense 42/48 - 1
X-153580387-C-G c.6772G>C p.E2258Q Missense 42/48 - 1
X-153580387-C-T c.6772G>A p.E2258K Missense 42/48 - 4
X-153580388-GG-CT c.6770_6771delinsAG p.A2257E Missense 42/48 - 1
X-153580389-G-A c.6770C>T p.A2257V Missense 42/48 - 1
X-153580389-G-C c.6770C>G p.A2257G Missense 42/48 - 1
X-153580389-G-T c.6770C>A p.A2257D Missense 42/48 - 1
X-153580436-C-T c.6770-47G>A - IntronicSNV - 41/47 1
X-153580549-C-A c.6769G>T p.A2257S Missense 41/48 - 1
X-153580549-C-G c.6769G>C p.A2257P Missense 41/48 - 4
X-153580549-C-T c.6769G>A p.A2257T Missense 41/48 - 1
X-153580550-TG-AT c.6767_6768delinsAT p.P2256H Missense 41/48 - 1
X-153580550-TGG-AAA c.6766_6768delinsTTT p.P2256F Missense 41/48 - 1
X-153580550-TGG-ACA c.6766_6768delinsTGT p.P2256C Missense 41/48 - 1
X-153580550-TGG-ATA c.6766_6768delinsTAT p.P2256Y Missense 41/48 - 1
X-153580550-TGG-CAT c.6766_6768delinsATG p.P2256M Missense 41/48 - 1
X-153580550-TGG-CCA c.6766_6768inv p.P2256W Missense 41/48 - 1
X-153580550-TGG-GTC c.6766_6768delinsGAC p.P2256D Missense 41/48 - 1
X-153580550-TGG-GTT c.6766_6768delinsAAC p.P2256N Missense 41/48 - 1
X-153580551-G-A c.6767C>T p.P2256L Missense 41/48 - 1
X-153580551-G-C c.6767C>G p.P2256R Missense 41/48 - 1
X-153580551-GG-AC c.6766_6767delinsGT p.P2256V Missense 41/48 - 1
X-153580551-GG-AT c.6766_6767delinsAT p.P2256I Missense 41/48 - 1
X-153580551-GG-CC c.6766_6767inv p.P2256G Missense 41/48 - 1
X-153580551-GG-TC c.6766_6767delinsGA p.P2256E Missense 41/48 - 1
X-153580551-GG-TT c.6766_6767delinsAA p.P2256K Missense 41/48 - 1
X-153580551-G-T c.6767C>A p.P2256Q Missense 41/48 - 1
X-153580552-G-A c.6766C>T p.P2256S Missense 41/48 - 1
X-153580552-G-C c.6766C>G p.P2256A Missense 41/48 - 1
X-153580552-G-T c.6766C>A p.P2256T Missense 41/48 - 1
X-153580553-CAC-AAA c.6763_6765delinsTTT p.V2255F Missense 41/48 - 1
X-153580553-CAC-ACA c.6763_6765delinsTGT p.V2255C Missense 41/48 - 1
X-153580553-CAC-ATA c.6763_6765delinsTAT p.V2255Y Missense 41/48 - 1
X-153580553-CAC-ATG c.6763_6765delinsCAT p.V2255H Missense 41/48 - 1
X-153580553-CAC-GAT c.6763_6765delinsATC p.V2255I Missense 41/48 - 1
X-153580553-CAC-GTT c.6763_6765delinsAAC p.V2255N Missense 41/48 - 1
X-153580553-CA-GT c.6764_6765delinsAC p.V2255D Missense 41/48 - 1
X-153580554-A-C c.6764T>G p.V2255G Missense 41/48 - 3
X-153580554-AC-CA c.6763_6764delinsTG p.V2255W Missense 41/48 - 1
X-153580554-AC-CT c.6763_6764delinsAG p.V2255R Missense 41/48 - 1
X-153580554-AC-GA c.6763_6764delinsTC p.V2255S Missense 41/48 - 1
X-153580554-AC-GG c.6763_6764delinsCC p.V2255P Missense 41/48 - 1
X-153580554-AC-GT c.6763_6764inv p.V2255T Missense 41/48 - 1
X-153580554-AC-TG c.6763_6764delinsCA p.V2255Q Missense 41/48 - 1
X-153580554-AC-TT c.6763_6764delinsAA p.V2255K Missense 41/48 - 1
X-153580554-A-G c.6764T>C p.V2255A Missense 41/48 - 1
X-153580554-A-T c.6764T>A p.V2255E Missense 41/48 - 1
X-153580555-C-A c.6763G>T p.V2255L Missense 41/48 - 1
X-153580555-C-G c.6763G>C p.V2255L Missense 41/48 - 1
X-153580555-C-T c.6763G>A p.V2255M Missense 41/48 - 1
X-153580556-TCC-AAA c.6760_6762delinsTTT p.G2254F Missense 41/48 - 1
X-153580556-TCC-ACA c.6760_6762delinsTGT p.G2254C Missense 41/48 - 1
X-153580556-TCC-ATA c.6760_6762delinsTAT p.G2254Y Missense 41/48 - 1
X-153580556-TCC-ATG c.6760_6762delinsCAT p.G2254H Missense 41/48 - 1
X-153580556-TCC-CAT c.6760_6762delinsATG p.G2254M Missense 41/48 - 1
X-153580556-TCC-CCA c.6760_6762delinsTGG p.G2254W Missense 41/48 - 1
X-153580556-TCC-GCT c.6760_6762delinsAGC p.G2254S Missense 41/48 - 1
X-153580556-TCC-GTT c.6760_6762delinsAAC p.G2254N Missense 41/48 - 1
X-153580556-TC-GT c.6761_6762delinsAC p.G2254D Missense 41/48 - 1
X-153580557-C-A c.6761G>T p.G2254V Missense 41/48 - 1
X-153580557-CC-AG c.6760_6761delinsCT p.G2254L Missense 41/48 - 1
X-153580557-CC-AT c.6760_6761delinsAT p.G2254I Missense 41/48 - 1
X-153580557-CC-GG c.6760_6761inv p.G2254P Missense 41/48 - 1
X-153580557-CC-GT c.6760_6761delinsAC p.G2254T Missense 41/48 - 1
X-153580557-CC-TG c.6760_6761delinsCA p.G2254Q Missense 41/48 - 1
X-153580557-CC-TT c.6760_6761delinsAA p.G2254K Missense 41/48 - 1
X-153580557-C-G c.6761G>C p.G2254A Missense 41/48 - 1
X-153580557-C-T c.6761G>A p.G2254E Missense 41/48 - 1
X-153580558-C-A c.6760G>T p.G2254* Nonsense 41/48 - 1
X-153580558-C-G c.6760G>C p.G2254R Missense 41/48 - 1
X-153580558-C-T c.6760G>A p.G2254R Missense 41/48 - 1
X-153580559-AGC-CAT c.6757_6759delinsATG p.A2253M Missense 41/48 - 1
X-153580559-AGC-CCA c.6757_6759delinsTGG p.A2253W Missense 41/48 - 1
X-153580559-AGC-CTT c.6757_6759delinsAAG p.A2253K Missense 41/48 - 1
X-153580559-AG-CT c.6758_6759inv p.A2253E Missense 41/48 - 1
X-153580559-AGC-TTG c.6757_6759delinsCAA p.A2253Q Missense 41/48 - 1
X-153580560-G-A c.6758C>T p.A2253V Missense 41/48 - 1
X-153580560-G-C c.6758C>G p.A2253G Missense 41/48 - 1
X-153580560-GC-AA c.6757_6758delinsTT p.A2253F Missense 41/48 - 1
X-153580560-GC-AG c.6757_6758delinsCT p.A2253L Missense 41/48 - 1
X-153580560-GC-AT c.6757_6758delinsAT p.A2253I Missense 41/48 - 1
X-153580560-GC-CA c.6757_6758delinsTG p.A2253C Missense 41/48 - 1
X-153580560-GC-CG c.6757_6758delinsCG p.A2253R Missense 41/48 - 1
X-153580560-GC-TA c.6757_6758delinsTA p.A2253Y Missense 41/48 - 1
X-153580560-GC-TG c.6757_6758delinsCA p.A2253H Missense 41/48 - 1
X-153580560-GC-TT c.6757_6758delinsAA p.A2253N Missense 41/48 - 1
X-153580560-G-T c.6758C>A p.A2253D Missense 41/48 - 1
X-153580561-C-A c.6757G>T p.A2253S Missense 41/48 - 1
X-153580561-C-G c.6757G>C p.A2253P Missense 41/48 - 1
X-153580561-C-T c.6757G>A p.A2253T Missense 41/48 - 1
X-153580562-T-A c.6756A>T p.E2252D Missense 41/48 - 1
X-153580562-T-G c.6756A>C p.E2252D Missense 41/48 - 1
X-153580562-TTC-AAA c.6754_6756delinsTTT p.E2252F Missense 41/48 - 1
X-153580562-TTC-ACA c.6754_6756delinsTGT p.E2252C Missense 41/48 - 1
X-153580562-TTC-ATA c.6754_6756delinsTAT p.E2252Y Missense 41/48 - 1
X-153580562-TTC-ATG c.6754_6756delinsCAT p.E2252H Missense 41/48 - 1
X-153580562-TTC-CAT c.6754_6756delinsATG p.E2252M Missense 41/48 - 1
X-153580562-TTC-CCA c.6754_6756delinsTGG p.E2252W Missense 41/48 - 1
X-153580562-TTC-GTT c.6754_6756delinsAAC p.E2252N Missense 41/48 - 1
X-153580563-T-A c.6755A>T p.E2252V Missense 41/48 - 1
X-153580563-T-C c.6755A>G p.E2252G Missense 41/48 - 1
X-153580563-TC-AG c.6754_6755delinsCT p.E2252L Missense 41/48 - 1
X-153580563-TC-AT c.6754_6755delinsAT p.E2252I Missense 41/48 - 1
X-153580563-TC-CT c.6754_6755delinsAG p.E2252R Missense 41/48 - 1
X-153580563-TC-GA c.6754_6755inv p.E2252S Missense 41/48 - 1
X-153580563-TC-GG c.6754_6755delinsCC p.E2252P Missense 41/48 - 1
X-153580563-TC-GT c.6754_6755delinsAC p.E2252T Missense 41/48 - 1
X-153580563-T-G c.6755A>C p.E2252A Missense 41/48 - 1
X-153580564-C-G c.6754G>C p.E2252Q Missense 41/48 - 1
X-153580564-C-T c.6754G>A p.E2252K Missense 41/48 - 1
X-153580565-AGC-CAT c.6751_6753delinsATG p.A2251M Missense 41/48 - 1
X-153580565-AGC-CCA c.6751_6753delinsTGG p.A2251W Missense 41/48 - 1
X-153580565-AGC-CTT c.6751_6753delinsAAG p.A2251K Missense 41/48 - 1
X-153580565-AG-CT c.6752_6753inv p.A2251E Missense 41/48 - 1
X-153580565-AGC-TTG c.6751_6753delinsCAA p.A2251Q Missense 41/48 - 1
X-153580566-G-A c.6752C>T p.A2251V Missense 41/48 - 3
X-153580566-G-C c.6752C>G p.A2251G Missense 41/48 - 1
X-153580566-GC-AA c.6751_6752delinsTT p.A2251F Missense 41/48 - 1
X-153580566-GC-AG c.6751_6752delinsCT p.A2251L Missense 41/48 - 1
X-153580566-GC-AT c.6751_6752delinsAT p.A2251I Missense 41/48 - 1
X-153580566-GC-CA c.6751_6752delinsTG p.A2251C Missense 41/48 - 1
X-153580566-GC-CG c.6751_6752delinsCG p.A2251R Missense 41/48 - 1
X-153580566-GC-TA c.6751_6752delinsTA p.A2251Y Missense 41/48 - 1
X-153580566-GC-TG c.6751_6752delinsCA p.A2251H Missense 41/48 - 1
X-153580566-GC-TT c.6751_6752delinsAA p.A2251N Missense 41/48 - 1
X-153580566-G-T c.6752C>A p.A2251D Missense 41/48 - 1
X-153580567-C-A c.6751G>T p.A2251S Missense 41/48 - 1
X-153580567-C-G c.6751G>C p.A2251P Missense 41/48 - 1
X-153580567-C-T c.6751G>A p.A2251T Missense 41/48 - 1
X-153580568-T-A c.6750A>T p.R2250S Missense 41/48 - 1
X-153580568-TC-CA c.6749_6750delinsTG p.R2250M Missense 41/48 - 1
X-153580568-TC-GT c.6749_6750delinsAC p.R2250N Missense 41/48 - 1
X-153580568-TCT-AAA c.6748_6750delinsTTT p.R2250F Missense 41/48 - 1
X-153580568-TCT-ACA c.6748_6750delinsTGT p.R2250C Missense 41/48 - 1
X-153580568-TCT-ATA c.6748_6750delinsTAT p.R2250Y Missense 41/48 - 1
X-153580568-TCT-ATG c.6748_6750delinsCAT p.R2250H Missense 41/48 - 1
X-153580568-TCT-CCA c.6748_6750delinsTGG p.R2250W Missense 41/48 - 1
X-153580568-TCT-GTC c.6748_6750delinsGAC p.R2250D Missense 41/48 - 1
X-153580568-T-G c.6750A>C p.R2250S Missense 41/48 - 1
X-153580569-C-A c.6749G>T p.R2250I Missense 41/48 - 1
X-153580569-C-G c.6749G>C p.R2250T Missense 41/48 - 1
X-153580569-C-T c.6749G>A p.R2250K Missense 41/48 - 1
X-153580569-CT-AC c.6748_6749delinsGT p.R2250V Missense 41/48 - 1
X-153580569-CT-AG c.6748_6749inv p.R2250L Missense 41/48 - 1
X-153580569-CT-GC c.6748_6749delinsGC p.R2250A Missense 41/48 - 1
X-153580569-CT-GG c.6748_6749delinsCC p.R2250P Missense 41/48 - 1
X-153580569-CT-TC c.6748_6749delinsGA p.R2250E Missense 41/48 - 1
X-153580569-CT-TG c.6748_6749delinsCA p.R2250Q Missense 41/48 - 1
X-153580570-T-C c.6748A>G p.R2250G Missense 41/48 - 1
X-153580571-C-A c.6747G>T p.E2249D Missense 41/48 - 1
X-153580571-C-G c.6747G>C p.E2249D Missense 41/48 - 1
X-153580571-CTC-AAA c.6745_6747delinsTTT p.E2249F Missense 41/48 - 1
X-153580571-CTC-ACA c.6745_6747delinsTGT p.E2249C Missense 41/48 - 1
X-153580571-CTC-ATA c.6745_6747delinsTAT p.E2249Y Missense 41/48 - 1
X-153580571-CTC-ATG c.6745_6747delinsCAT p.E2249H Missense 41/48 - 1
X-153580571-CTC-GAT c.6745_6747delinsATC p.E2249I Missense 41/48 - 1
X-153580571-CTC-GTT c.6745_6747delinsAAC p.E2249N Missense 41/48 - 1
X-153580572-T-A c.6746A>T p.E2249V Missense 41/48 - 1
X-153580572-T-C c.6746A>G p.E2249G Missense 41/48 - 1
X-153580572-TC-AG c.6745_6746delinsCT p.E2249L Missense 41/48 - 1
X-153580572-TC-AT c.6745_6746delinsAT p.E2249M Missense 41/48 - 1
X-153580572-TC-CA c.6745_6746delinsTG p.E2249W Missense 41/48 - 1
X-153580572-TC-CT c.6745_6746delinsAG p.E2249R Missense 41/48 - 1
X-153580572-TC-GA c.6745_6746inv p.E2249S Missense 41/48 - 1
X-153580572-TC-GG c.6745_6746delinsCC p.E2249P Missense 41/48 - 1
X-153580572-TC-GT c.6745_6746delinsAC p.E2249T Missense 41/48 - 1
X-153580572-T-G c.6746A>C p.E2249A Missense 41/48 - 1
X-153580573-C-G c.6745G>C p.E2249Q Missense 41/48 - 1
X-153580573-C-T c.6745G>A p.E2249K Missense 41/48 - 3
X-153580574-CA-AT c.6743_6744delinsAT p.L2248H Missense 41/48 - 1
X-153580574-CAG-AAA c.6742_6744delinsTTT p.L2248F Missense 41/48 - 1
X-153580574-CAG-ACA c.6742_6744delinsTGT p.L2248C Missense 41/48 - 1
X-153580574-CAG-ATA c.6742_6744delinsTAT p.L2248Y Missense 41/48 - 1
X-153580574-CAG-GAT c.6742_6744delinsATC p.L2248I Missense 41/48 - 1
X-153580574-CAG-GTC c.6742_6744delinsGAC p.L2248D Missense 41/48 - 1
X-153580574-CAG-GTT c.6742_6744delinsAAC p.L2248N Missense 41/48 - 1
X-153580575-A-C c.6743T>G p.L2248R Missense 41/48 - 1
X-153580575-A-G c.6743T>C p.L2248P Missense 41/48 - 1
X-153580575-AG-CA c.6742_6743delinsTG p.L2248W Missense 41/48 - 1
X-153580575-AG-CC c.6742_6743delinsGG p.L2248G Missense 41/48 - 1
X-153580575-AG-GA c.6742_6743delinsTC p.L2248S Missense 41/48 - 1
X-153580575-AG-GC c.6742_6743delinsGC p.L2248A Missense 41/48 - 1
X-153580575-AG-GT c.6742_6743delinsAC p.L2248T Missense 41/48 - 1
X-153580575-AG-TC c.6742_6743delinsGA p.L2248E Missense 41/48 - 1
X-153580575-AG-TT c.6742_6743delinsAA p.L2248K Missense 41/48 - 1
X-153580575-A-T c.6743T>A p.L2248Q Missense 41/48 - 1
X-153580576-G-A c.6742C>T p.L2248= Synonymous 41/48 - 2
X-153580576-G-C c.6742C>G p.L2248V Missense 41/48 - 1
X-153580576-G-T c.6742C>A p.L2248M Missense 41/48 - 1
X-153580577-GCC-CAT c.6739_6741delinsATG p.G2247M Missense 41/48 - 1
X-153580577-GCC-CCA c.6739_6741delinsTGG p.G2247W Missense 41/48 - 1
X-153580577-GCC-CTT c.6739_6741delinsAAG p.G2247K Missense 41/48 - 1
X-153580577-GC-CT c.6740_6741delinsAG p.G2247E Missense 41/48 - 1
X-153580577-GCC-TTG c.6739_6741delinsCAA p.G2247Q Missense 41/48 - 1
X-153580578-C-A c.6740G>T p.G2247V Missense 41/48 - 1
X-153580578-CC-AA c.6739_6740delinsTT p.G2247F Missense 41/48 - 1
X-153580578-CC-AG c.6739_6740delinsCT p.G2247L Missense 41/48 - 1
X-153580578-CC-AT c.6739_6740delinsAT p.G2247I Missense 41/48 - 1
X-153580578-CC-GG c.6739_6740inv p.G2247P Missense 41/48 - 1
X-153580578-CC-GT c.6739_6740delinsAC p.G2247T Missense 41/48 - 1
X-153580578-CC-TA c.6739_6740delinsTA p.G2247Y Missense 41/48 - 1
X-153580578-CC-TG c.6739_6740delinsCA p.G2247H Missense 41/48 - 1
X-153580578-CC-TT c.6739_6740delinsAA p.G2247N Missense 41/48 - 1
X-153580578-C-G c.6740G>C p.G2247A Missense 41/48 - 1
X-153580578-C-T c.6740G>A p.G2247D Missense 41/48 - 1
X-153580579-C-A c.6739G>T p.G2247C Missense 41/48 - 1
X-153580579-C-G c.6739G>C p.G2247R Missense 41/48 - 1
X-153580579-C-T c.6739G>A p.G2247S Missense 41/48 - 1
X-153580580-AGG-CAT c.6736_6738delinsATG p.P2246M Missense 41/48 - 1
X-153580580-AGG-CCA c.6736_6738delinsTGG p.P2246W Missense 41/48 - 1
X-153580580-AGG-CTC c.6736_6738delinsGAG p.P2246E Missense 41/48 - 1
X-153580580-AGG-CTT c.6736_6738delinsAAG p.P2246K Missense 41/48 - 1
X-153580580-AG-TT c.6737_6738delinsAA p.P2246Q Missense 41/48 - 1
X-153580581-G-A c.6737C>T p.P2246L Missense 41/48 - 1
X-153580581-G-C c.6737C>G p.P2246R Missense 41/48 - 1
X-153580581-GG-AA c.6736_6737delinsTT p.P2246F Missense 41/48 - 1
X-153580581-GG-AC c.6736_6737delinsGT p.P2246V Missense 41/48 - 1
X-153580581-GG-AT c.6736_6737delinsAT p.P2246I Missense 41/48 - 1
X-153580581-GG-CA c.6736_6737delinsTG p.P2246C Missense 41/48 - 1
X-153580581-GG-CC c.6736_6737inv p.P2246G Missense 41/48 - 1
X-153580581-GG-TA c.6736_6737delinsTA p.P2246Y Missense 41/48 - 1
X-153580581-GG-TC c.6736_6737delinsGA p.P2246D Missense 41/48 - 1
X-153580581-GG-TT c.6736_6737delinsAA p.P2246N Missense 41/48 - 1
X-153580581-G-T c.6737C>A p.P2246H Missense 41/48 - 1
X-153580582-G-A c.6736C>T p.P2246S Missense 41/48 - 1
X-153580582-G-C c.6736C>G p.P2246A Missense 41/48 - 1
X-153580582-G-T c.6736C>A p.P2246T Missense 41/48 - 1
X-153580583-GCC-CAT c.6733_6735delinsATG p.G2245M Missense 41/48 - 1
X-153580583-GCC-CCA c.6733_6735delinsTGG p.G2245W Missense 41/48 - 1
X-153580583-GCC-CTT c.6733_6735delinsAAG p.G2245K Missense 41/48 - 1
X-153580583-GC-CT c.6734_6735delinsAG p.G2245E Missense 41/48 - 1
X-153580583-GCC-TTG c.6733_6735delinsCAA p.G2245Q Missense 41/48 - 1
X-153580584-C-A c.6734G>T p.G2245V Missense 41/48 - 1
X-153580584-CC-AA c.6733_6734delinsTT p.G2245F Missense 41/48 - 1
X-153580584-CC-AG c.6733_6734delinsCT p.G2245L Missense 41/48 - 1
X-153580584-CC-AT c.6733_6734delinsAT p.G2245I Missense 41/48 - 1
X-153580584-CC-GG c.6733_6734inv p.G2245P Missense 41/48 - 1
X-153580584-CC-GT c.6733_6734delinsAC p.G2245T Missense 41/48 - 1
X-153580584-CC-TA c.6733_6734delinsTA p.G2245Y Missense 41/48 - 1
X-153580584-CC-TG c.6733_6734delinsCA p.G2245H Missense 41/48 - 1
X-153580584-CC-TT c.6733_6734delinsAA p.G2245N Missense 41/48 - 1
X-153580584-C-G c.6734G>C p.G2245A Missense 41/48 - 1
X-153580584-C-T c.6734G>A p.G2245D Missense 41/48 - 2
X-153580585-C-A c.6733G>T p.G2245C Missense 41/48 - 1
X-153580585-C-G c.6733G>C p.G2245R Missense 41/48 - 1
X-153580585-C-T c.6733G>A p.G2245S Missense 41/48 - 1
X-153580586-CCC-AAA c.6730_6732delinsTTT p.G2244F Missense 41/48 - 1
X-153580586-CCC-ACA c.6730_6732delinsTGT p.G2244C Missense 41/48 - 1
X-153580586-CCC-ATA c.6730_6732delinsTAT p.G2244Y Missense 41/48 - 1
X-153580586-CCC-ATG c.6730_6732delinsCAT p.G2244H Missense 41/48 - 1
X-153580586-CCC-GAT c.6730_6732delinsATC p.G2244I Missense 41/48 - 1
X-153580586-CCC-GCT c.6730_6732delinsAGC p.G2244S Missense 41/48 - 1
X-153580586-CCC-GTT c.6730_6732delinsAAC p.G2244N Missense 41/48 - 1
X-153580586-CC-GT c.6731_6732delinsAC p.G2244D Missense 41/48 - 1
X-153580587-C-A c.6731G>T p.G2244V Missense 41/48 - 1
X-153580587-CC-AG c.6730_6731delinsCT p.G2244L Missense 41/48 - 1
X-153580587-CC-AT c.6730_6731delinsAT p.G2244M Missense 41/48 - 1
X-153580587-CC-GG c.6730_6731inv p.G2244P Missense 41/48 - 1
X-153580587-CC-GT c.6730_6731delinsAC p.G2244T Missense 41/48 - 1
X-153580587-CC-TG c.6730_6731delinsCA p.G2244Q Missense 41/48 - 1
X-153580587-CC-TT c.6730_6731delinsAA p.G2244K Missense 41/48 - 1
X-153580587-C-G c.6731G>C p.G2244A Missense 41/48 - 1
X-153580587-C-T c.6731G>A p.G2244E Missense 41/48 - 2
X-153580588-C-A c.6730G>T p.G2244W Missense 41/48 - 1
X-153580588-C-G c.6730G>C p.G2244R Missense 41/48 - 1
X-153580588-C-T c.6730G>A p.G2244R Missense 41/48 - 1
X-153580589-AGC-CAT c.6727_6729delinsATG p.A2243M Missense 41/48 - 1
X-153580589-AGC-CCA c.6727_6729delinsTGG p.A2243W Missense 41/48 - 1
X-153580589-AGC-CTT c.6727_6729delinsAAG p.A2243K Missense 41/48 - 1
X-153580589-AG-CT c.6728_6729inv p.A2243E Missense 41/48 - 1
X-153580589-AGC-TTG c.6727_6729delinsCAA p.A2243Q Missense 41/48 - 1
X-153580590-G-A c.6728C>T p.A2243V Missense 41/48 - 1
X-153580590-G-C c.6728C>G p.A2243G Missense 41/48 - 2
X-153580590-GC-AA c.6727_6728delinsTT p.A2243F Missense 41/48 - 1
X-153580590-GC-AG c.6727_6728delinsCT p.A2243L Missense 41/48 - 1
X-153580590-GC-AT c.6727_6728delinsAT p.A2243I Missense 41/48 - 1
X-153580590-GC-CA c.6727_6728delinsTG p.A2243C Missense 41/48 - 1
X-153580590-GC-CG c.6727_6728delinsCG p.A2243R Missense 41/48 - 1
X-153580590-GC-TA c.6727_6728delinsTA p.A2243Y Missense 41/48 - 1
X-153580590-GC-TG c.6727_6728delinsCA p.A2243H Missense 41/48 - 1
X-153580590-GC-TT c.6727_6728delinsAA p.A2243N Missense 41/48 - 1
X-153580590-G-T c.6728C>A p.A2243D Missense 41/48 - 1
X-153580591-C-A c.6727G>T p.A2243S Missense 41/48 - 1
X-153580591-C-G c.6727G>C p.A2243P Missense 41/48 - 1
X-153580591-C-T c.6727G>A p.A2243T Missense 41/48 - 1
X-153580592-TC-AT c.6725_6726delinsAT p.R2242H Missense 41/48 - 1
X-153580592-TCG-AAA c.6724_6726delinsTTT p.R2242F Missense 41/48 - 1
X-153580592-TCG-ACA c.6724_6726delinsTGT p.R2242C Missense 41/48 - 1
X-153580592-TCG-ATA c.6724_6726delinsTAT p.R2242Y Missense 41/48 - 1
X-153580592-TCG-CAT c.6724_6726delinsATG p.R2242M Missense 41/48 - 1
X-153580592-TCG-CCA c.6724_6726delinsTGG p.R2242W Missense 41/48 - 1
X-153580592-TCG-GCT c.6724_6726delinsAGC p.R2242S Missense 41/48 - 1
X-153580592-TCG-GTC c.6724_6726delinsGAC p.R2242D Missense 41/48 - 1
X-153580592-TCG-GTT c.6724_6726delinsAAC p.R2242N Missense 41/48 - 1
X-153580593-C-A c.6725G>T p.R2242L Missense 41/48 - 1
X-153580593-C-G c.6725G>C p.R2242P Missense 41/48 - 1
X-153580593-CG-AC c.6724_6725delinsGT p.R2242V Missense 41/48 - 1
X-153580593-CG-AT c.6724_6725delinsAT p.R2242I Missense 41/48 - 1
X-153580593-CG-GC c.6724_6725delinsGC p.R2242A Missense 41/48 - 1
X-153580593-CG-GT c.6724_6725delinsAC p.R2242T Missense 41/48 - 1
X-153580593-CG-TC c.6724_6725delinsGA p.R2242E Missense 41/48 - 1
X-153580593-CG-TT c.6724_6725delinsAA p.R2242K Missense 41/48 - 1
X-153580593-C-T c.6725G>A p.R2242Q Missense 41/48 - 3
X-153580594-G-A c.6724C>T p.R2242* Nonsense 41/48 - 1
X-153580594-G-C c.6724C>G p.R2242G Missense 41/48 - 1
X-153580595-GAC-CAT c.6721_6723delinsATG p.V2241M Missense 41/48 - 1
X-153580595-GAC-CCA c.6721_6723delinsTGG p.V2241W Missense 41/48 - 1
X-153580595-GAC-CTT c.6721_6723delinsAAG p.V2241K Missense 41/48 - 1
X-153580595-GA-CT c.6722_6723delinsAG p.V2241E Missense 41/48 - 1
X-153580595-GAC-TTG c.6721_6723delinsCAA p.V2241Q Missense 41/48 - 1
X-153580596-A-C c.6722T>G p.V2241G Missense 41/48 - 1
X-153580596-AC-CA c.6721_6722delinsTG p.V2241C Missense 41/48 - 1
X-153580596-AC-CG c.6721_6722delinsCG p.V2241R Missense 41/48 - 1
X-153580596-AC-CT c.6721_6722delinsAG p.V2241S Missense 41/48 - 1
X-153580596-AC-GG c.6721_6722delinsCC p.V2241P Missense 41/48 - 1
X-153580596-AC-GT c.6721_6722inv p.V2241T Missense 41/48 - 1
X-153580596-AC-TA c.6721_6722delinsTA p.V2241Y Missense 41/48 - 1
X-153580596-AC-TG c.6721_6722delinsCA p.V2241H Missense 41/48 - 1
X-153580596-AC-TT c.6721_6722delinsAA p.V2241N Missense 41/48 - 1
X-153580596-A-G c.6722T>C p.V2241A Missense 41/48 - 1
X-153580596-A-T c.6722T>A p.V2241D Missense 41/48 - 1
X-153580597-C-A c.6721G>T p.V2241F Missense 41/48 - 1
X-153580597-C-G c.6721G>C p.V2241L Missense 41/48 - 1
X-153580597-C-T c.6721G>A p.V2241I Missense 41/48 - 1
X-153580598-C-A c.6720G>T p.K2240N Missense 41/48 - 1
X-153580598-C-G c.6720G>C p.K2240N Missense 41/48 - 1
X-153580598-CT-GA c.6719_6720delinsTC p.K2240I Missense 41/48 - 1
X-153580598-CT-GC c.6719_6720delinsGC p.K2240S Missense 41/48 - 1
X-153580598-CTT-AAA c.6718_6720delinsTTT p.K2240F Missense 41/48 - 1
X-153580598-CTT-ACA c.6718_6720delinsTGT p.K2240C Missense 41/48 - 1
X-153580598-CTT-ATA c.6718_6720delinsTAT p.K2240Y Missense 41/48 - 1
X-153580598-CTT-ATG c.6718_6720delinsCAT p.K2240H Missense 41/48 - 1
X-153580598-CTT-GTC c.6718_6720delinsGAC p.K2240D Missense 41/48 - 1
X-153580599-T-A c.6719A>T p.K2240M Missense 41/48 - 1
X-153580599-T-C c.6719A>G p.K2240R Missense 41/48 - 1
X-153580599-T-G c.6719A>C p.K2240T Missense 41/48 - 1
X-153580599-TT-AC c.6718_6719delinsGT p.K2240V Missense 41/48 - 1
X-153580599-TT-AG c.6718_6719delinsCT p.K2240L Missense 41/48 - 1
X-153580599-TT-CA c.6718_6719delinsTG p.K2240W Missense 41/48 - 1
X-153580599-TT-CC c.6718_6719delinsGG p.K2240G Missense 41/48 - 1
X-153580599-TT-GC c.6718_6719delinsGC p.K2240A Missense 41/48 - 1
X-153580599-TT-GG c.6718_6719delinsCC p.K2240P Missense 41/48 - 1
X-153580600-T-C c.6718A>G p.K2240E Missense 41/48 - 1
X-153580600-T-G c.6718A>C p.K2240Q Missense 41/48 - 1
X-153580601-G-C c.6717C>G p.H2239Q Missense 41/48 - 2
X-153580601-G-T c.6717C>A p.H2239Q Missense 41/48 - 2
X-153580601-GTG-CAT c.6715_6717delinsATG p.H2239M Missense 41/48 - 1
X-153580601-GTG-CCA c.6715_6717delinsTGG p.H2239W Missense 41/48 - 1
X-153580601-GTG-CTC c.6715_6717delinsGAG p.H2239E Missense 41/48 - 1
X-153580601-GTG-CTT c.6715_6717delinsAAG p.H2239K Missense 41/48 - 1
X-153580602-T-A c.6716A>T p.H2239L Missense 41/48 - 1
X-153580602-T-C c.6716A>G p.H2239R Missense 41/48 - 4
X-153580602-T-G c.6716A>C p.H2239P Missense 41/48 - 1
X-153580602-TG-AA c.6715_6716delinsTT p.H2239F Missense 41/48 - 1
X-153580602-TG-AC c.6715_6716delinsGT p.H2239V Missense 41/48 - 1
X-153580602-TG-AT c.6715_6716delinsAT p.H2239I Missense 41/48 - 1
X-153580602-TG-CA c.6715_6716inv p.H2239C Missense 41/48 - 1
X-153580602-TG-CC c.6715_6716delinsGG p.H2239G Missense 41/48 - 1
X-153580602-TG-CT c.6715_6716delinsAG p.H2239S Missense 41/48 - 1
X-153580602-TG-GC c.6715_6716delinsGC p.H2239A Missense 41/48 - 1
X-153580602-TG-GT c.6715_6716delinsAC p.H2239T Missense 41/48 - 1
X-153580603-G-A c.6715C>T p.H2239Y Missense 41/48 - 1
X-153580603-G-C c.6715C>G p.H2239D Missense 41/48 - 1
X-153580603-G-T c.6715C>A p.H2239N Missense 41/48 - 1
X-153580604-GGC-CAT c.6712_6714delinsATG p.A2238M Missense 41/48 - 1
X-153580604-GGC-CCA c.6712_6714delinsTGG p.A2238W Missense 41/48 - 1
X-153580604-GGC-CTT c.6712_6714delinsAAG p.A2238K Missense 41/48 - 1
X-153580604-GG-CT c.6713_6714delinsAG p.A2238E Missense 41/48 - 1
X-153580604-GGC-TTG c.6712_6714delinsCAA p.A2238Q Missense 41/48 - 1
X-153580605-G-A c.6713C>T p.A2238V Missense 41/48 - 1
X-153580605-G-C c.6713C>G p.A2238G Missense 41/48 - 1
X-153580605-GC-AA c.6712_6713delinsTT p.A2238F Missense 41/48 - 1
X-153580605-GC-AG c.6712_6713delinsCT p.A2238L Missense 41/48 - 1
X-153580605-GC-AT c.6712_6713delinsAT p.A2238I Missense 41/48 - 1
X-153580605-GC-CA c.6712_6713delinsTG p.A2238C Missense 41/48 - 1
X-153580605-GC-CG c.6712_6713delinsCG p.A2238R Missense 41/48 - 1
X-153580605-GC-TA c.6712_6713delinsTA p.A2238Y Missense 41/48 - 1
X-153580605-GC-TG c.6712_6713delinsCA p.A2238H Missense 41/48 - 1
X-153580605-GC-TT c.6712_6713delinsAA p.A2238N Missense 41/48 - 1
X-153580605-G-T c.6713C>A p.A2238D Missense 41/48 - 1
X-153580606-C-A c.6712G>T p.A2238S Missense 41/48 - 1
X-153580606-C-G c.6712G>C p.A2238P Missense 41/48 - 1
X-153580606-C-T c.6712G>A p.A2238T Missense 41/48 - 2
X-153580607-TCC-AAA c.6709_6711delinsTTT p.G2237F Missense 41/48 - 1
X-153580607-TCC-ACA c.6709_6711delinsTGT p.G2237C Missense 41/48 - 1
X-153580607-TCC-ATA c.6709_6711delinsTAT p.G2237Y Missense 41/48 - 1
X-153580607-TCC-ATG c.6709_6711delinsCAT p.G2237H Missense 41/48 - 1
X-153580607-TCC-CAT c.6709_6711delinsATG p.G2237M Missense 41/48 - 1
X-153580607-TCC-CCA c.6709_6711delinsTGG p.G2237W Missense 41/48 - 1
X-153580607-TCC-GCT c.6709_6711delinsAGC p.G2237S Missense 41/48 - 1
X-153580607-TCC-GTT c.6709_6711delinsAAC p.G2237N Missense 41/48 - 1
X-153580607-TC-GT c.6710_6711delinsAC p.G2237D Missense 41/48 - 1
X-153580608-C-A c.6710G>T p.G2237V Missense 41/48 - 1
X-153580608-CC-AG c.6709_6710delinsCT p.G2237L Missense 41/48 - 1
X-153580608-CC-AT c.6709_6710delinsAT p.G2237I Missense 41/48 - 1
X-153580608-CC-GG c.6709_6710inv p.G2237P Missense 41/48 - 1
X-153580608-CC-GT c.6709_6710delinsAC p.G2237T Missense 41/48 - 1
X-153580608-CC-TG c.6709_6710delinsCA p.G2237Q Missense 41/48 - 1
X-153580608-CC-TT c.6709_6710delinsAA p.G2237K Missense 41/48 - 1
X-153580608-C-G c.6710G>C p.G2237A Missense 41/48 - 1
X-153580608-C-T c.6710G>A p.G2237E Missense 41/48 - 3
X-153580609-C-G c.6709G>C p.G2237R Missense 41/48 - 1
X-153580609-C-T c.6709G>A p.G2237R Missense 41/48 - 1
X-153580610-CCC-AAA c.6706_6708delinsTTT p.G2236F Missense 41/48 - 1
X-153580610-CCC-ACA c.6706_6708delinsTGT p.G2236C Missense 41/48 - 1
X-153580610-CCC-ATA c.6706_6708delinsTAT p.G2236Y Missense 41/48 - 1
X-153580610-CCC-ATG c.6706_6708delinsCAT p.G2236H Missense 41/48 - 1
X-153580610-CCC-GAT c.6706_6708delinsATC p.G2236I Missense 41/48 - 1
X-153580610-CCC-GCT c.6706_6708delinsAGC p.G2236S Missense 41/48 - 1
X-153580610-CCC-GTT c.6706_6708delinsAAC p.G2236N Missense 41/48 - 1
X-153580610-CC-GT c.6707_6708delinsAC p.G2236D Missense 41/48 - 1
X-153580611-C-A c.6707G>T p.G2236V Missense 41/48 - 2
X-153580611-CC-AG c.6706_6707delinsCT p.G2236L Missense 41/48 - 1
X-153580611-CC-AT c.6706_6707delinsAT p.G2236M Missense 41/48 - 1
X-153580611-CC-GG c.6706_6707inv p.G2236P Missense 41/48 - 1
X-153580611-CC-GT c.6706_6707delinsAC p.G2236T Missense 41/48 - 1
X-153580611-CC-TG c.6706_6707delinsCA p.G2236Q Missense 41/48 - 1
X-153580611-CC-TT c.6706_6707delinsAA p.G2236K Missense 41/48 - 1
X-153580611-C-G c.6707G>C p.G2236A Missense 41/48 - 1
X-153580611-C-T c.6707G>A p.G2236E Missense 41/48 - 2
X-153580607-TC-T c.6710del p.G2237Efs*109 Frameshift 41/48 - 3
X-153580612-C-A c.6706G>T p.G2236W Missense 41/48 - 1
X-153580612-C-G c.6706G>C p.G2236R Missense 41/48 - 1
X-153580612-C-T c.6706G>A p.G2236R Missense 41/48 - 1
X-153580613-T-A c.6705A>T p.E2235D Missense 41/48 - 1
X-153580617-C-G c.6701G>C p.G2234A Missense 41/48 - 1
X-153580626-C-A c.6692G>T p.G2231V Missense 41/48 - 1
X-153580626-C-G c.6692G>C p.G2231A Missense 41/48 - 1
X-153580628-CAC-GAT c.6688_6690delinsATC p.V2230I Missense 41/48 - 2
X-153580630-C-A c.6688G>T p.V2230L Missense 41/48 - 2
X-153580630-C-G c.6688G>C p.V2230L Missense 41/48 - 1
X-153580630-C-T c.6688G>A p.V2230M Missense 41/48 - 2
X-153580631-G-A c.6687C>T p.T2229= Synonymous 41/48 - 1
X-153580635-A-T c.6683T>A p.F2228Y Missense 41/48 - 1
X-153580634-G-C c.6684C>G p.F2228L Missense 41/48 - 1
X-153580634-G-T c.6684C>A p.F2228L Missense 41/48 - 1
X-153580636-A-G c.6682T>C p.F2228L Missense 41/48 - 1
X-153580650-C-G c.6668G>C p.G2223A Missense 41/48 - 2
X-153580655-C-T c.6663G>A p.V2221= Synonymous 41/48 - 1
X-153580658-G-A c.6660C>T p.H2220= Synonymous 41/48 - 1
X-153580660-G-T c.6658C>A p.H2220N Missense 41/48 - 1
X-153580664-G-A c.6654C>T p.G2218= Synonymous 41/48 - 1
X-153580664-G-C c.6654C>G p.G2218= Synonymous 41/48 - 1
X-153580664-G-T c.6654C>A p.G2218= Synonymous 41/48 - 1
X-153580665-C-T c.6653G>A p.G2218D Missense 41/48 - 2
X-153580671-T-A c.6647A>T p.Y2216F Missense 41/48 - 2
X-153580676-CAC-GAT c.6640_6642delinsATC p.V2214I Missense 41/48 - 1
X-153580676-C-G c.6642G>C p.V2214= Synonymous 41/48 - 1
X-153580678-C-T c.6640G>A p.V2214M Missense 41/48 - 3
X-153580679-G-A c.6639C>T p.S2213= Synonymous 41/48 - 1
X-153580679-GCTGA-G c.6635_6638del p.V2212Afs*2 Frameshift 41/48 - 1
X-153580692-G-A c.6626C>T p.T2209I Missense 41/48 - 1
X-153580694-G-A c.6624C>T p.G2208= Synonymous 41/48 - 1
X-153580700-C-G c.6618G>C p.E2206D Missense 41/48 - 1
X-153580705-C-A c.6613G>T p.A2205S Missense 41/48 - 2
X-153580705-C-G c.6613G>C p.A2205P Missense 41/48 - 1
X-153580707-G-A c.6611C>T p.P2204L Missense 41/48 - 3
X-153580710-A-G c.6608T>C p.V2203A Missense 41/48 - 2
X-153580711-C-T c.6607G>A p.V2203I Missense 41/48 - 1
X-153580715-GCG-CTT c.6601_6603delinsAAG p.R2201K Missense 41/48 - 1
X-153580716-C-T c.6602G>A p.R2201H Missense 41/48 - 5
X-153580717-G-A c.6601C>T p.R2201C Missense 41/48 - 4
X-153580716-CG-C c.6601del p.R2201Afs*14 Frameshift 41/48 - 1
X-153580728-G-A c.6590C>T p.T2197I Missense 41/48 - 3
X-153580733-G-C c.6585C>G p.N2195K Missense 41/48 - 1
X-153580735-T-C c.6583A>G p.N2195D Missense 41/48 - 5
X-153580740-C-A c.6578G>T p.G2193V Missense 41/48 - 2
X-153580737-TC-T c.6580del p.E2194Rfs*21 Frameshift 41/48 - 1
X-153580743-T-C c.6575A>G p.E2192G Missense 41/48 - 1
X-153580747-C-T c.6571G>A p.V2191M Missense 41/48 - 2
X-153580748-G-A c.6570C>T p.I2190= Synonymous 41/48 - 1
X-153580749-A-C c.6569T>G p.I2190S Missense 41/48 - 3
X-153580753-C-T c.6565G>A p.E2189K Missense 41/48 - 1
X-153580763-G-A c.6555C>T p.T2185= Synonymous 41/48 - 1
X-153580767-T-C c.6551A>G p.K2184R Missense 41/48 - 2
X-153580770-C-A c.6548G>T p.G2183V Missense 41/48 - 1
X-153580770-C-G c.6548G>C p.G2183A Missense 41/48 - 2
X-153580776-G-A c.6542C>T p.P2181L Missense 41/48 - 1
X-153580781-G-A c.6537C>T p.T2179= Synonymous 41/48 - 2
X-153580787-C-A c.6531G>T p.Q2177H Missense 41/48 - 2
X-153580787-C-G c.6531G>C p.Q2177H Missense 41/48 - 1
X-153580794-G-A c.6524C>T p.T2175I Missense 41/48 - 1
X-153580796-C-A c.6522G>T p.M2174I Missense 41/48 - 1
X-153580802-C-T c.6516G>A p.Q2172= Synonymous 41/48 - 1
X-153580811-A-C c.6507T>G p.I2169M Missense 41/48 - 1
X-153580812-A-G c.6506T>C p.I2169T Missense 41/48 - 1
X-153580921-CCAGGG-C c.6498_6502del p.P2167Nfs*2 SpliceDonorDeletion 40/48 - 1
X-153580922-CAGG-C c.6499_6501del p.P2167del InFrameDeletion 40/48 - 1
X-153580924-G-A c.6499C>T p.P2167S Missense 40/48 - 1
X-153580926-A-AT c.6496dup p.I2166Nfs*3 Frameshift 40/48 - 2
X-153580930-T-G c.6493A>C p.K2165Q Missense 40/48 - 2
X-153580931-C-A c.6492G>T p.L2164= Synonymous 40/48 - 1
X-153580931-C-G c.6492G>C p.L2164= Synonymous 40/48 - 1
X-153580931-C-T c.6492G>A p.L2164= Synonymous 40/48 - 3
X-153580933-G-A c.6490C>T p.L2164= Synonymous 40/48 - 1
X-153580937-G-A c.6486C>T p.L2162= Synonymous 40/48 - 1
X-153580937-G-C c.6486C>G p.L2162= Synonymous 40/48 - 1
X-153580937-G-T c.6486C>A p.L2162= Synonymous 40/48 - 2
X-153580943-A-G c.6480T>C p.C2160= Synonymous 40/48 - 1
X-153580944-C-A c.6479G>T p.C2160F Missense 40/48 - 1
X-153580944-C-T c.6479G>A p.C2160Y Missense 40/48 - 1
X-153580945-A-G c.6478T>C p.C2160R Missense 40/48 - 1
X-153580945-CAATGA-C c.6474_6478del p.S2158Rfs*2 Frameshift 40/48 - 1
X-153580948-G-A c.6475C>T p.H2159Y Missense 40/48 - 1
X-153580950-C-A c.6473G>T p.S2158I Missense 40/48 - 1
X-153580957-C-T c.6466G>A p.V2156I Missense 40/48 - 4
X-153580965-A-T c.6458T>A p.V2153E Missense 40/48 - 1
X-153580967-TGA-GTC c.6454_6456delinsGAC p.S2152D Missense 40/48 - 3
X-153580968-G-A c.6455C>T p.S2152L Missense 40/48 - 8
X-153580969-A-C c.6454T>G p.S2152A Missense 40/48 - 7
X-153580972-G-A c.6451C>T p.P2151S Missense 40/48 - 1
X-153580974-G-C c.6449C>G p.A2150G Missense 40/48 - 1
X-153580977-C-T c.6446G>A p.R2149Q Missense 40/48 - 1
X-153580978-G-A c.6445C>T p.R2149W Missense 40/48 - 4
X-153580980-C-T c.6443G>A p.R2148H Missense 40/48 - 1
X-153580981-G-T c.6442C>A p.R2148S Missense 40/48 - 2
X-153580983-C-T c.6440G>A p.R2147K Missense 40/48 - 1
X-153580987-G-A c.6436C>T p.R2146C Missense 40/48 - 1
X-153580991-GAT-CTC c.6430_6432delinsGAG p.I2144E Missense 40/48 - 2
X-153580994-GCTCT-G c.6425_6428del p.E2142Afs*22 Frameshift 40/48 - 3
X-153580999-C-T c.6424G>A p.E2142K Missense 40/48 - 2
X-153581004-A-G c.6419T>C p.V2140A Missense 40/48 - 1
X-153581011-C-A c.6412G>T p.G2138C Missense 40/48 - 3
X-153581014-C-G c.6409G>C p.E2137Q Missense 40/48 - 1
X-153581014-C-T c.6409G>A p.E2137K Missense 40/48 - 2
X-153581015-CG-C c.6408del p.E2137Rfs*4 Frameshift 40/48 - 1
X-153581015-G-A c.6408C>T p.G2136= Synonymous 40/48 - 2
X-153581015-G-C c.6408C>G p.G2136= Synonymous 40/48 - 1
X-153581015-G-T c.6408C>A p.G2136= Synonymous 40/48 - 1
X-153581024-C-A c.6399G>T p.K2133N Missense 40/48 - 1
X-153581027-C-A c.6396G>T p.V2132= Synonymous 40/48 - 1
X-153581029-C-T c.6394G>A p.V2132M Missense 40/48 - 2
X-153581030-A-C c.6393T>G p.S2131= Synonymous 40/48 - 1
X-153581030-A-G c.6393T>C p.S2131= Synonymous 40/48 - 1
X-153581030-A-T c.6393T>A p.S2131= Synonymous 40/48 - 1
X-153581038-G-A c.6385C>T p.P2129S Missense 40/48 - 1
X-153581138-A-G c.6379+2T>C - IntronicSNV - 39/47 1
X-153581143-G-A c.6376C>T p.P2126S Missense 39/48 - 1
X-153581144-C-A c.6375G>T p.V2125= Synonymous 39/48 - 1
X-153581144-C-G c.6375G>C p.V2125= Synonymous 39/48 - 1
X-153581144-C-T c.6375G>A p.V2125= Synonymous 39/48 - 2
X-153581147-G-T c.6372C>A p.H2124Q Missense 39/48 - 1
X-153581157-G-A c.6362C>T p.A2121V Missense 39/48 - 2
X-153581162-C-T c.6357G>A p.K2119= Synonymous 39/48 - 1
X-153581163-CTT-C c.6355_6356del p.K2119Vfs*39 Frameshift 39/48 - 1
X-153581167-T-A c.6352A>T p.I2118F Missense 39/48 - 1
X-153581169-T-C c.6350A>G p.N2117S Missense 39/48 - 1
X-153581171-G-C c.6348C>G p.I2116M Missense 39/48 - 2
X-153581174-G-A c.6345C>T p.I2115= Synonymous 39/48 - 2
X-153581174-G-T c.6345C>A p.I2115= Synonymous 39/48 - 1
X-153581175-A-G c.6344T>C p.I2115T Missense 39/48 - 1
X-153581181-T-C c.6338A>G p.N2113S Missense 39/48 - 1
X-153581188-G-A c.6331C>T p.P2111S Missense 39/48 - 1
X-153581196-G-T c.6323C>A p.P2108H Missense 39/48 - 1
X-153581197-G-T c.6322C>A p.P2108T Missense 39/48 - 1
X-153581198-G-A c.6321C>T p.C2107= Synonymous 39/48 - 1
X-153581198-G-T c.6321C>A p.C2107* Nonsense 39/48 - 1
X-153581202-T-C c.6317A>G p.Y2106C Missense 39/48 - 2
X-153581202-T-G c.6317A>C p.Y2106S Missense 39/48 - 2
X-153581203-A-G c.6316T>C p.Y2106H Missense 39/48 - 1
X-153581212-T-C c.6307A>G p.R2103G Missense 39/48 - 2
X-153581212-T-G c.6307A>C p.R2103= Synonymous 39/48 - 1
X-153581217-G-A c.6302C>T p.T2101M Missense 39/48 - 2
X-153581221-C-G c.6298G>C p.G2100R Missense 39/48 - 2
X-153581221-C-T c.6298G>A p.G2100R Missense 39/48 - 2
X-153581222-G-A c.6297C>T p.D2099= Synonymous 39/48 - 3
X-153581224-C-A c.6295G>T p.D2099Y Missense 39/48 - 1
X-153581226-T-G c.6293A>C p.E2098A Missense 39/48 - 1
X-153581229-A-C c.6290T>G p.L2097R Missense 39/48 - 1
X-153581230-G-T c.6289C>A p.L2097M Missense 39/48 - 1
X-153581234-C-T c.6285G>A p.E2095= Synonymous 39/48 - 1
X-153581235-T-C c.6284A>G p.E2095G Missense 39/48 - 1
X-153581244-AT-CA c.6274_6275delinsTG p.I2092C Missense 39/48 - 2
X-153581247-T-C c.6272A>G p.D2091G Missense 39/48 - 1
X-153581249-C-T c.6270G>A p.V2090= Synonymous 39/48 - 1
X-153581251-C-G c.6268G>C p.V2090L Missense 39/48 - 2
X-153581260-G-A c.6259C>T p.P2087S Missense 39/48 - 1
X-153581267-A-C c.6252T>G p.I2084M Missense 39/48 - 1
X-153581270-GGA-CTT c.6247_6249delinsAAG p.S2083K Missense 39/48 - 1
X-153581277-CT-TC c.6241_6242delinsGA p.S2081D Missense 39/48 - 1
X-153581279-G-A c.6240C>T p.L2080= Synonymous 39/48 - 2
X-153581281-G-A c.6238C>T p.L2080F Missense 39/48 - 2
X-153581282-C-T c.6237G>A p.G2079= Synonymous 39/48 - 1
X-153581289-T-C c.6230A>G p.Y2077C Missense 39/48 - 1
X-153581290-A-T c.6229T>A p.Y2077N Missense 39/48 - 2
X-153581291-G-T c.6228C>A p.G2076= Synonymous 39/48 - 1
X-153581368-C-T c.6226+1G>A - IntronicSNV - 38/47 1
X-153581370-TG-GT c.6224_6225delinsAC p.A2075D Missense 38/48 - 1
X-153581371-G-C c.6224C>G p.A2075G Missense 38/48 - 1
X-153581372-C-A c.6223G>T p.A2075S Missense 38/48 - 1
X-153581375-C-T c.6220G>A p.D2074N Missense 38/48 - 4
X-153581376-G-A c.6219C>T p.R2073= Synonymous 38/48 - 3
X-153581376-G-C c.6219C>G p.R2073= Synonymous 38/48 - 1
X-153581376-G-T c.6219C>A p.R2073= Synonymous 38/48 - 1
X-153581377-C-G c.6218G>C p.R2073P Missense 38/48 - 1
X-153581377-C-T c.6218G>A p.R2073H Missense 38/48 - 1
X-153581378-G-A c.6217C>T p.R2073C Missense 38/48 - 1
X-153581382-A-G c.6213T>C p.D2071= Synonymous 38/48 - 1
X-153581385-A-C c.6210T>G p.I2070M Missense 38/48 - 1
X-153581388-G-T c.6207C>A p.I2069= Synonymous 38/48 - 1
X-153581396-C-A c.6199G>T p.E2067* Nonsense 38/48 - 1
X-153581396-C-G c.6199G>C p.E2067Q Missense 38/48 - 1
X-153581399-C-T c.6196G>A p.A2066T Missense 38/48 - 1
X-153581401-G-A c.6194C>T p.P2065L Missense 38/48 - 1
X-153581402-G-T c.6193C>A p.P2065T Missense 38/48 - 1
X-153581416-C-T c.6179G>A p.G2060D Missense 38/48 - 1
X-153581420-C-T c.6175G>A p.E2059K Missense 38/48 - 4
X-153581422-T-G c.6173A>C p.H2058P Missense 38/48 - 1
X-153581427-G-A c.6168C>T p.G2056= Synonymous 38/48 - 1
X-153581427-G-C c.6168C>G p.G2056= Synonymous 38/48 - 1
X-153581427-G-T c.6168C>A p.G2056= Synonymous 38/48 - 1
X-153581435-C-T c.6160G>A p.G2054S Missense 38/48 - 1
X-153581443-C-T c.6152G>A p.R2051Q Missense 38/48 - 1
X-153581450-G-A c.6145C>T p.R2049C Missense 38/48 - 2
X-153581451-A-T c.6144T>A p.S2048R Missense 38/48 - 1
X-153581455-G-T c.6140C>A p.A2047D Missense 38/48 - 3
X-153581456-C-A c.6139G>T p.A2047S Missense 38/48 - 2
X-153581456-C-T c.6139G>A p.A2047T Missense 38/48 - 1
X-153581459-C-T c.6136G>A p.D2046N Missense 38/48 - 1
X-153581468-C-T c.6127G>A p.E2043K Missense 38/48 - 1
X-153581477-T-G c.6118A>C p.S2040R Missense 38/48 - 1
X-153581486-C-T c.6109G>A p.V2037M Missense 38/48 - 4
X-153581487-C-A c.6108G>T p.P2036= Synonymous 38/48 - 1
X-153581487-C-G c.6108G>C p.P2036= Synonymous 38/48 - 1
X-153581487-C-T c.6108G>A p.P2036= Synonymous 38/48 - 1
X-153581488-G-A c.6107C>T p.P2036L Missense 38/48 - 4
X-153581488-G-C c.6107C>G p.P2036R Missense 38/48 - 1
X-153581489-G-A c.6106C>T p.P2036S Missense 38/48 - 2
X-153581494-G-A c.6101C>T p.P2034L Missense 38/48 - 1
X-153581499-G-A c.6096C>T p.S2032= Synonymous 38/48 - 1
X-153581503-G-A c.6092C>T p.A2031V Missense 38/48 - 1
X-153581504-C-G c.6091G>C p.A2031P Missense 38/48 - 2
X-153581497-CTGCTGGCCACG-C c.6087_6097del p.H2029Qfs*32 Frameshift 38/48 - 1
X-153581507-C-T c.6088G>A p.V2030M Missense 38/48 - 2
X-153581510-G-A c.6085C>T p.H2029Y Missense 38/48 - 1
X-153581511-C-A c.6084G>T p.Q2028H Missense 38/48 - 1
X-153581513-G-A c.6082C>T p.Q2028* Nonsense 38/48 - 1
X-153581515-C-G c.6080G>C p.G2027A Missense 38/48 - 1
X-153581523-C-G c.6072G>C p.K2024N Missense 38/48 - 2
X-153581528-C-T c.6067G>A p.V2023M Missense 38/48 - 1
X-153581533-A-G c.6062T>C p.V2021A Missense 38/48 - 1
X-153581534-C-A c.6061G>T p.V2021L Missense 38/48 - 1
X-153581534-C-T c.6061G>A p.V2021M Missense 38/48 - 2
X-153581543-C-CA c.6051_6052insT p.E2018* Nonsense 38/48 - 1
X-153581542-TC-T c.6052del p.E2018Sfs*6 Frameshift 38/48 - 1
X-153581552-C-T c.6043G>A p.E2015K Missense 38/48 - 1
X-153581561-C-A c.6034G>T p.V2012L Missense 38/48 - 1
X-153581568-A-G c.6027T>C p.I2009= Synonymous 38/48 - 1
X-153581582-G-C c.6023-10C>G - IntronicSNV - 37/47 1
X-153581658-G-A c.6022+6C>T - IntronicSNV - 37/47 1
X-153581663-C-T c.6022+1G>A - IntronicSNV - 37/47 1
X-153581664-C-G c.6022G>C p.G2008R Missense 37/48 - 2
X-153581664-C-T c.6022G>A p.G2008R Missense 37/48 - 2
X-153581667-C-T c.6019G>A p.V2007M Missense 37/48 - 4
X-153581668-G-A c.6018C>T p.H2006= Synonymous 37/48 - 3
X-153581670-TGGCCATTACGC-T c.6006_6016del p.N2004Gfs*57 Frameshift 37/48 - 1
X-153581676-T-TA c.6009dup p.N2004* Nonsense 37/48 - 1
X-153581678-C-T c.6008G>A p.R2003H Missense 37/48 - 4
X-153581679-G-A c.6007C>T p.R2003C Missense 37/48 - 1
X-153581685-G-A c.6001C>T p.R2001W Missense 37/48 - 1
X-153581689-C-A c.5997G>T p.L1999= Synonymous 37/48 - 1
X-153581691-G-A c.5995C>T p.L1999= Synonymous 37/48 - 1
X-153581691-G-GA c.5994_5995insT p.L1999Sfs*6 Frameshift 37/48 - 1
X-153581696-C-A c.5990G>T p.C1997F Missense 37/48 - 1
X-153581696-C-CA c.5989dup p.C1997Lfs*8 Frameshift 37/48 - 1
X-153581698-G-A c.5988C>T p.P1996= Synonymous 37/48 - 1
X-153581704-C-A c.5982G>T p.E1994D Missense 37/48 - 2
X-153581704-C-G c.5982G>C p.E1994D Missense 37/48 - 2
X-153581706-C-T c.5980G>A p.E1994K Missense 37/48 - 1
X-153581709-G-A c.5977C>T p.R1993W Missense 37/48 - 2
X-153581709-G-T c.5977C>A p.R1993= Synonymous 37/48 - 1
X-153581708-CG-C c.5977del p.R1993Gfs*7 Frameshift 37/48 - 1
X-153581714-G-A c.5972C>T p.S1991L Missense 37/48 - 11
X-153581719-C-A c.5967G>T p.P1989= Synonymous 37/48 - 4
X-153581719-C-G c.5967G>C p.P1989= Synonymous 37/48 - 4
X-153581719-C-T c.5967G>A p.P1989= Synonymous 37/48 - 5
X-153581720-G-A c.5966C>T p.P1989L Missense 37/48 - 1
X-153581721-G-A c.5965C>T p.P1989S Missense 37/48 - 1
X-153581722-G-A c.5964C>T p.V1988= Synonymous 37/48 - 1
X-153581724-C-T c.5962G>A p.V1988I Missense 37/48 - 2
X-153581728-AG-CA c.5957_5958delinsTG p.T1986M Missense 37/48 - 1
X-153581742-G-A c.5944C>T p.L1982= Synonymous 37/48 - 1
X-153581748-G-C c.5938C>G p.L1980V Missense 37/48 - 1
X-153581751-C-T c.5935G>A p.D1979N Missense 37/48 - 1
X-153581752-C-A c.5934G>T p.T1978= Synonymous 37/48 - 1
X-153581753-G-A c.5933C>T p.T1978M Missense 37/48 - 1
X-153581755-C-A c.5931G>T p.E1977D Missense 37/48 - 2
X-153581755-C-G c.5931G>C p.E1977D Missense 37/48 - 1
X-153581758-TG-AA c.5927_5928delinsTT p.S1976F Missense 37/48 - 1
X-153581759-G-A c.5927C>T p.S1976L Missense 37/48 - 1
X-153581766-T-A c.5920A>T p.N1974Y Missense 37/48 - 1
X-153581769-T-A c.5917A>T p.I1973F Missense 37/48 - 3
X-153581769-T-C c.5917A>G p.I1973V Missense 37/48 - 1
X-153581773-G-C c.5913C>G p.I1971M Missense 37/48 - 7
X-153581779-G-T c.5907C>A p.A1969= Synonymous 37/48 - 1
X-153581786-G-A c.5900C>T p.S1967F Missense 37/48 - 1
X-153581790-C-T c.5896G>A p.G1966S Missense 37/48 - 1
X-153581793-C-T c.5893G>A p.V1965I Missense 37/48 - 1
X-153581796-T-A c.5890A>T p.K1964* Nonsense 37/48 - 1
X-153581804-G-A c.5882C>T p.S1961F Missense 37/48 - 1
X-153581805-A-G c.5881T>C p.S1961P Missense 37/48 - 1
X-153581810-C-T c.5876G>A p.R1959H Missense 37/48 - 1
X-153581811-G-A c.5875C>T p.R1959C Missense 37/48 - 5
X-153581812-C-A c.5874G>T p.M1958I Missense 37/48 - 4
X-153581812-C-G c.5874G>C p.M1958I Missense 37/48 - 5
X-153581812-C-T c.5874G>A p.M1958I Missense 37/48 - 5
X-153581814-T-A c.5872A>T p.M1958L Missense 37/48 - 1
X-153581814-T-G c.5872A>C p.M1958L Missense 37/48 - 1
X-153581818-G-A c.5868C>T p.D1956= Synonymous 37/48 - 1
X-153581820-C-T c.5866G>A p.D1956N Missense 37/48 - 1
X-153581922-C-CA c.5859_5860insT p.G1954Wfs*2 SpliceDonorInsertion 36/48 - 1
X-153581922-C-CG c.5859_5860insC p.G1954Rfs*2 SpliceDonorInsertion 36/48 - 1
X-153581922-C-CT c.5859dup p.G1954Rfs*2 SpliceDonorInsertion 36/48 - 1
X-153581928-C-T c.5854G>A p.V1952I Missense 36/48 - 2
X-153581929-CC-AT c.5852_5853delinsAT p.R1951H Missense 36/48 - 1
X-153581931-G-A c.5851C>T p.R1951W Missense 36/48 - 1
X-153581932-A-C c.5850T>G p.A1950= Synonymous 36/48 - 1
X-153581932-A-G c.5850T>C p.A1950= Synonymous 36/48 - 15
X-153581932-A-T c.5850T>A p.A1950= Synonymous 36/48 - 1
X-153581935-AG-CA c.5846_5847delinsTG p.T1949M Missense 36/48 - 1
X-153581938-G-A c.5844C>T p.F1948= Synonymous 36/48 - 2
X-153581949-C-A c.5833G>T p.G1945C Missense 36/48 - 2
X-153581952-G-T c.5830C>A p.P1944T Missense 36/48 - 1
X-153581955-C-T c.5827G>A p.V1943I Missense 36/48 - 3
X-153581956-G-A c.5826C>T p.H1942= Synonymous 36/48 - 1
X-153581964-C-T c.5818G>A p.E1940K Missense 36/48 - 1
X-153581965-A-G c.5817T>C p.N1939= Synonymous 36/48 - 2
X-153581968-G-A c.5814C>T p.Y1938= Synonymous 36/48 - 1
X-153581981-A-G c.5801T>C p.I1934T Missense 36/48 - 1
X-153582018-C-T c.5764G>A p.V1922M Missense 36/48 - 1
X-153582019-G-A c.5763C>T p.S1921= Synonymous 36/48 - 1
X-153582021-T-C c.5761A>G p.S1921G Missense 36/48 - 1
X-153582023-CA-GT c.5758_5759delinsAC p.C1920T Missense 36/48 - 1
X-153582028-CCC-GCT c.5752_5754delinsAGC p.G1918S Missense 36/48 - 1
X-153582029-C-G c.5753G>C p.G1918A Missense 36/48 - 1
X-153582047-CA-TC c.5734_5735delinsGA p.C1912D Missense 36/48 - 1
X-153582052-G-C c.5730C>G p.I1910M Missense 36/48 - 1
X-153582059-G-A c.5723C>T p.A1908V Missense 36/48 - 1
X-153582060-C-T c.5722G>A p.A1908T Missense 36/48 - 2
X-153582069-G-A c.5713C>T p.P1905S Missense 36/48 - 1
X-153582075-C-T c.5707G>A p.E1903K Missense 36/48 - 1
X-153582086-G-A c.5696C>T p.S1899F Missense 36/48 - 4
X-153582092-C-T c.5690G>A p.G1897D Missense 36/48 - 1
X-153582166-C-T c.5687-71G>A - IntronicSNV - 35/47 1
X-153582198-T-A c.5686+85A>T - IntronicSNV - 35/47 3
X-153582198-T-C c.5686+85A>G - IntronicSNV - 35/47 3
X-153582199-T-C c.5686+84A>G - IntronicSNV - 35/47 1
X-153582279-T-C c.5686+4A>G - IntronicSNV - 35/47 1
X-153582283-C-G c.5686G>C p.G1896R Missense 35/48 - 1
X-153582283-C-T c.5686G>A p.G1896R Missense 35/48 - 2
X-153582286-C-A c.5683G>T p.E1895* Nonsense 35/48 - 4
X-153582286-C-T c.5683G>A p.E1895K Missense 35/48 - 1
X-153582287-TCC-GCT c.5680_5682delinsAGC p.G1894S Missense 35/48 - 1
X-153582295-C-A c.5674G>T p.D1892Y Missense 35/48 - 1
X-153582295-C-T c.5674G>A p.D1892N Missense 35/48 - 1
X-153582307-C-T c.5662G>A p.V1888I Missense 35/48 - 1
X-153582322-G-T c.5647C>A p.P1883T Missense 35/48 - 3
X-153582326-G-C c.5643C>G p.N1881K Missense 35/48 - 1
X-153582326-G-T c.5643C>A p.N1881K Missense 35/48 - 1
X-153582331-C-T c.5638G>A p.V1880M Missense 35/48 - 1
X-153582335-T-A c.5634A>T p.G1878= Synonymous 35/48 - 2
X-153582335-T-C c.5634A>G p.G1878= Synonymous 35/48 - 2
X-153582335-T-G c.5634A>C p.G1878= Synonymous 35/48 - 2
X-153582348-C-G c.5621G>C p.G1874A Missense 35/48 - 1
X-153582349-C-A c.5620G>T p.G1874C Missense 35/48 - 1
X-153582353-C-T c.5616G>A p.G1872= Synonymous 35/48 - 1
X-153582360-G-C c.5609C>G p.A1870G Missense 35/48 - 1
X-153582361-C-T c.5608G>A p.A1870T Missense 35/48 - 1
X-153582369-T-G c.5600A>C p.H1867P Missense 35/48 - 1
X-153582370-G-A c.5599C>T p.H1867Y Missense 35/48 - 4
X-153582373-C-A c.5596G>T p.G1866C Missense 35/48 - 1
X-153582374-A-G c.5595T>C p.C1865= Synonymous 35/48 - 1
X-153582377-G-A c.5592C>T p.N1864= Synonymous 35/48 - 2
X-153582379-T-G c.5590A>C p.N1864H Missense 35/48 - 1
X-153582382-C-T c.5587G>A p.V1863I Missense 35/48 - 1
X-153582383-G-C c.5586C>G p.Y1862* Nonsense 35/48 - 1
X-153582383-G-T c.5586C>A p.Y1862* Nonsense 35/48 - 2
X-153582404-G-A c.5565C>T p.P1855= Synonymous 35/48 - 1
X-153582516-C-A c.5557+3G>T - IntronicSNV - 34/47 1
X-153582525-T-C c.5551A>G p.I1851V Missense 34/48 - 1
X-153582529-C-A c.5547G>T p.M1849I Missense 34/48 - 1
X-153582530-A-C c.5546T>G p.M1849R Missense 34/48 - 1
X-153582536-T-C c.5540A>G p.D1847G Missense 34/48 - 1
X-153582539-T-C c.5537A>G p.Y1846C Missense 34/48 - 1
X-153582549-C-T c.5527G>A p.D1843N Missense 34/48 - 1
X-153582555-C-G c.5521G>C p.E1841Q Missense 34/48 - 1
X-153582555-C-T c.5521G>A p.E1841K Missense 34/48 - 1
X-153582556-G-A c.5520C>T p.H1840= Synonymous 34/48 - 1
X-153582561-G-T c.5515C>A p.L1839M Missense 34/48 - 1
X-153582562-GC-CT c.5513_5514delinsAG p.G1838E Missense 34/48 - 1
X-153582570-C-T c.5506G>A p.E1836K Missense 34/48 - 1
X-153582572-C-A c.5504G>T p.S1835I Missense 34/48 - 1
X-153582572-C-T c.5504G>A p.S1835N Missense 34/48 - 1
X-153582572-CTGGGTG-GT c.5498_5504delinsAC p.A1833Dfs*13 Frameshift 34/48 - 1
X-153582574-G-A c.5502C>T p.P1834= Synonymous 34/48 - 1
X-153582575-G-A c.5501C>T p.P1834L Missense 34/48 - 2
X-153582579-C-A c.5497G>T p.A1833S Missense 34/48 - 1
X-153582579-C-G c.5497G>C p.A1833P Missense 34/48 - 1
X-153582581-T-C c.5495A>G p.Y1832C Missense 34/48 - 1
X-153582584-C-T c.5492G>A p.R1831Q Missense 34/48 - 4
X-153582585-G-A c.5491C>T p.R1831W Missense 34/48 - 5
X-153582587-A-C c.5489T>G p.V1830G Missense 34/48 - 1
X-153582588-C-A c.5488G>T p.V1830L Missense 34/48 - 1
X-153582588-C-T c.5488G>A p.V1830M Missense 34/48 - 3
X-153582591-T-C c.5485A>G p.T1829A Missense 34/48 - 1
X-153582597-T-C c.5479A>G p.T1827A Missense 34/48 - 1
X-153582598-G-T c.5478C>A p.G1826= Synonymous 34/48 - 1
X-153582599-C-G c.5477G>C p.G1826A Missense 34/48 - 1
X-153582604-T-G c.5472A>C p.K1824N Missense 34/48 - 1
X-153582611-T-C c.5465A>G p.D1822G Missense 34/48 - 1
X-153582613-A-C c.5463T>G p.T1821= Synonymous 34/48 - 1
X-153582613-A-G c.5463T>C p.T1821= Synonymous 34/48 - 1
X-153582613-A-T c.5463T>A p.T1821= Synonymous 34/48 - 1
X-153582616-G-A c.5460C>T p.I1820= Synonymous 34/48 - 1
X-153582628-C-T c.5448G>A p.A1816= Synonymous 34/48 - 2
X-153582629-G-A c.5447C>T p.A1816V Missense 34/48 - 2
X-153582633-C-T c.5443G>A p.V1815M Missense 34/48 - 2
X-153582637-G-A c.5439C>T p.G1813= Synonymous 34/48 - 1
X-153582637-G-C c.5439C>G p.G1813= Synonymous 34/48 - 1
X-153582637-G-T c.5439C>A p.G1813= Synonymous 34/48 - 1
X-153582639-C-A c.5437G>T p.G1813C Missense 34/48 - 1
X-153582644-G-A c.5432C>T p.P1811L Missense 34/48 - 1
X-153582648-T-C c.5428A>G p.M1810V Missense 34/48 - 1
X-153582649-CCG-ACA c.5425_5427delinsTGT p.R1809C Missense 34/48 - 1
X-153582650-C-T c.5426G>A p.R1809Q Missense 34/48 - 2
X-153582655-C-A c.5421G>T p.E1807D Missense 34/48 - 1
X-153582657-C-T c.5419G>A p.E1807K Missense 34/48 - 1
X-153582703-G-A c.5417-44C>T - IntronicSNV - 33/47 6
X-153582708-G-A c.5416+41C>T - IntronicSNV - 33/47 1
X-153582708-G-T c.5416+41C>A - IntronicSNV - 33/47 1
X-153582752-T-C c.5413A>G p.T1805A Missense 33/48 - 1
X-153582756-C-CT c.5408dup p.I1804Dfs*19 Frameshift 33/48 - 1
X-153582758-C-A c.5407G>T p.E1803* Nonsense 33/48 - 1
X-153582758-C-T c.5407G>A p.E1803K Missense 33/48 - 4
X-153582763-T-G c.5402A>C p.K1801T Missense 33/48 - 1
X-153582768-G-A c.5397C>T p.I1799= Synonymous 33/48 - 2
X-153582768-G-T c.5397C>A p.I1799= Synonymous 33/48 - 2
X-153582771-G-A c.5394C>T p.T1798= Synonymous 33/48 - 1
X-153582770-TG-T c.5394del p.I1799Sfs*30 Frameshift 33/48 - 1
X-153582777-G-A c.5388C>T p.P1796= Synonymous 33/48 - 2
X-153582777-G-C c.5388C>G p.P1796= Synonymous 33/48 - 2
X-153582777-G-T c.5388C>A p.P1796= Synonymous 33/48 - 2
X-153582780-G-A c.5385C>T p.I1795= Synonymous 33/48 - 2
X-153582796-GG-AA c.5368_5369delinsTT p.P1790F Missense 33/48 - 1
X-153582799-CT-TG c.5365_5366delinsCA p.R1789Q Missense 33/48 - 2
X-153582801-C-A c.5364G>T p.L1788= Synonymous 33/48 - 3
X-153582801-C-G c.5364G>C p.L1788= Synonymous 33/48 - 4
X-153582801-C-T c.5364G>A p.L1788= Synonymous 33/48 - 3
X-153582803-G-A c.5362C>T p.L1788= Synonymous 33/48 - 3
X-153582802-A-C c.5363T>G p.L1788R Missense 33/48 - 1
X-153582817-A-G c.5348T>C p.L1783P Missense 33/48 - 1
X-153582817-CA-C c.5348del p.L1783Rfs*3 Frameshift 33/48 - 1
X-153582818-G-A c.5347C>T p.L1783= Synonymous 33/48 - 2
X-153582821-C-G c.5344G>C p.G1782R Missense 33/48 - 4
X-153582821-C-T c.5344G>A p.G1782R Missense 33/48 - 2
X-153582833-C-T c.5332G>A p.V1778M Missense 33/48 - 1
X-153582839-G-C c.5326C>G p.P1776A Missense 33/48 - 1
X-153582840-CCT-ACA c.5323_5325delinsTGT p.R1775C Missense 33/48 - 1
X-153582846-C-T c.5319G>A p.P1773= Synonymous 33/48 - 1
X-153582847-G-A c.5318C>T p.P1773L Missense 33/48 - 1
X-153582847-G-T c.5318C>A p.P1773Q Missense 33/48 - 1
X-153582849-G-C c.5316C>G p.A1772= Synonymous 33/48 - 1
X-153582851-C-T c.5314G>A p.A1772T Missense 33/48 - 1
X-153582980-G-A c.5313+4C>T - IntronicSNV - 32/47 1
X-153582982-A-G c.5313+2T>C - IntronicSNV - 32/47 1
X-153582991-T-G c.5306A>C p.Q1769P Missense 32/48 - 1
X-153582995-G-C c.5302C>G p.Q1768E Missense 32/48 - 1
X-153582998-C-T c.5299G>A p.G1767S Missense 32/48 - 1
X-153583006-G-T c.5291C>A p.A1764D Missense 32/48 - 1
X-153583007-C-T c.5290G>A p.A1764T Missense 32/48 - 11
X-153583008-G-A c.5289C>T p.Y1763= Synonymous 32/48 - 1
X-153583012-G-A c.5285C>T p.T1762I Missense 32/48 - 2
X-153583022-G-A c.5275C>T p.P1759S Missense 32/48 - 1
X-153583022-G-C c.5275C>G p.P1759A Missense 32/48 - 1
X-153583023-G-A c.5274C>T p.A1758= Synonymous 32/48 - 1
X-153583023-G-C c.5274C>G p.A1758= Synonymous 32/48 - 1
X-153583023-G-T c.5274C>A p.A1758= Synonymous 32/48 - 1
X-153583028-G-C c.5269C>G p.L1757V Missense 32/48 - 1
X-153583031-G-A c.5266C>T p.Q1756* Nonsense 32/48 - 1
X-153583035-A-C c.5262T>G p.S1754= Synonymous 32/48 - 1
X-153583035-A-G c.5262T>C p.S1754= Synonymous 32/48 - 1
X-153583035-A-T c.5262T>A p.S1754= Synonymous 32/48 - 1
X-153583040-G-A c.5257C>T p.R1753W Missense 32/48 - 1
X-153583042-AG-GA c.5254_5255delinsTC p.L1752S Missense 32/48 - 1
X-153583044-GA-G c.5253del p.L1752Yfs*34 Frameshift 32/48 - 1
X-153583045-G-A c.5252C>T p.P1751L Missense 32/48 - 2
X-153583046-G-A c.5251C>T p.P1751S Missense 32/48 - 1
X-153583046-G-T c.5251C>A p.P1751T Missense 32/48 - 1
X-153583047-G-A c.5250C>T p.P1750= Synonymous 32/48 - 1
X-153583048-G-T c.5249C>A p.P1750H Missense 32/48 - 1
X-153583052-G-A c.5245C>T p.Q1749* Nonsense 32/48 - 1
X-153583052-G-C c.5245C>G p.Q1749E Missense 32/48 - 1
X-153583055-C-T c.5242G>A p.V1748M Missense 32/48 - 1
X-153583056-C-A c.5241G>T p.S1747= Synonymous 32/48 - 1
X-153583056-C-G c.5241G>C p.S1747= Synonymous 32/48 - 2
X-153583056-C-T c.5241G>A p.S1747= Synonymous 32/48 - 3
X-153583059-GG-TT c.5237_5238delinsAA p.P1746Q Missense 32/48 - 1
X-153583068-C-A c.5229G>T p.G1743= Synonymous 32/48 - 1
X-153583069-C-T c.5228G>A p.G1743E Missense 32/48 - 3
X-153583073-C-T c.5224G>A p.A1742T Missense 32/48 - 1
X-153583077-A-C c.5220T>G p.A1740= Synonymous 32/48 - 1
X-153583077-A-G c.5220T>C p.A1740= Synonymous 32/48 - 1
X-153583077-A-T c.5220T>A p.A1740= Synonymous 32/48 - 1
X-153583188-C-G c.5217+5G>C - IntronicSNV - 31/47 1
X-153583193-C-A c.5217G>T p.T1739= Synonymous 31/48 - 1
X-153583193-C-G c.5217G>C p.T1739= Synonymous 31/48 - 1
X-153583193-C-T c.5217G>A p.T1739= Synonymous 31/48 - 7
X-153583194-G-A c.5216C>T p.T1739M Missense 31/48 - 2
X-153583197-A-G c.5213T>C p.V1738A Missense 31/48 - 1
X-153583201-G-A c.5209C>T p.Q1737* Nonsense 31/48 - 1
X-153583212-T-C c.5198A>G p.N1733S Missense 31/48 - 3
X-153583215-G-A c.5195C>T p.P1732L Missense 31/48 - 1
X-153583219-C-A c.5191G>T p.V1731L Missense 31/48 - 1
X-153583219-C-G c.5191G>C p.V1731L Missense 31/48 - 1
X-153583219-C-T c.5191G>A p.V1731M Missense 31/48 - 2
X-153583225-C-A c.5185G>T p.E1729* Nonsense 31/48 - 1
X-153583225-C-T c.5185G>A p.E1729K Missense 31/48 - 1
X-153583226-G-A c.5184C>T p.G1728= Synonymous 31/48 - 2
X-153583228-C-A c.5182G>T p.G1728C Missense 31/48 - 3
X-153583240-C-T c.5170G>A p.V1724M Missense 31/48 - 1
X-153583241-A-C c.5169T>G p.C1723W Missense 31/48 - 1
X-153583241-A-G c.5169T>C p.C1723= Synonymous 31/48 - 2
X-153583242-C-T c.5168G>A p.C1723Y Missense 31/48 - 1
X-153583244-G-A c.5166C>T p.I1722= Synonymous 31/48 - 1
X-153583246-T-A c.5164A>T p.I1722F Missense 31/48 - 1
X-153583246-T-C c.5164A>G p.I1722V Missense 31/48 - 3
X-153583247-G-A c.5163C>T p.V1721= Synonymous 31/48 - 1
X-153583247-G-C c.5163C>G p.V1721= Synonymous 31/48 - 1
X-153583247-G-T c.5163C>A p.V1721= Synonymous 31/48 - 1
X-153583249-C-T c.5161G>A p.V1721I Missense 31/48 - 1
X-153583250-G-A c.5160C>T p.Y1720= Synonymous 31/48 - 1
X-153583256-G-A c.5154C>T p.G1718= Synonymous 31/48 - 1
X-153583256-G-C c.5154C>G p.G1718= Synonymous 31/48 - 1
X-153583256-G-T c.5154C>A p.G1718= Synonymous 31/48 - 1
X-153583258-C-T c.5152G>A p.G1718S Missense 31/48 - 1
X-153583261-G-A c.5149C>T p.P1717S Missense 31/48 - 1
X-153583262-C-G c.5148G>C p.Q1716H Missense 31/48 - 1
X-153583263-TG-T c.5146del p.Q1716Sfs*23 Frameshift 31/48 - 5
X-153583270-C-T c.5140G>A p.A1714T Missense 31/48 - 1
X-153583271-CCGT-C c.5137_5139del p.T1713del InFrameDeletion 31/48 - 1
X-153583271-CG-GA c.5138_5139delinsTC p.T1713I Missense 31/48 - 1
X-153583275-T-C c.5135A>G p.Y1712C Missense 31/48 - 1
X-153583278-A-G c.5132T>C p.F1711S Missense 31/48 - 1
X-153583280-GA-CT c.5129_5130delinsAG p.I1710K Missense 31/48 - 1
X-153583285-C-T c.5125G>A p.D1709N Missense 31/48 - 1
X-153583289-A-T c.5121T>A p.T1707= Synonymous 31/48 - 1
X-153583294-C-G c.5116G>C p.G1706R Missense 31/48 - 2
X-153583294-C-T c.5116G>A p.G1706S Missense 31/48 - 2
X-153583295-G-A c.5115C>T p.D1705= Synonymous 31/48 - 1
X-153583312-C-T c.5098G>A p.V1700M Missense 31/48 - 1
X-153583313-G-C c.5097C>G p.D1699E Missense 31/48 - 1
X-153583313-G-T c.5097C>A p.D1699E Missense 31/48 - 1
X-153583315-C-T c.5095G>A p.D1699N Missense 31/48 - 3
X-153583318-C-T c.5092G>A p.V1698M Missense 31/48 - 2
X-153583321-C-T c.5089G>A p.D1697N Missense 31/48 - 2
X-153583322-C-A c.5088G>T p.V1696= Synonymous 31/48 - 1
X-153583322-C-G c.5088G>C p.V1696= Synonymous 31/48 - 1
X-153583322-C-T c.5088G>A p.V1696= Synonymous 31/48 - 1
X-153583324-C-T c.5086G>A p.V1696M Missense 31/48 - 1
X-153583325-C-G c.5085G>C p.E1695D Missense 31/48 - 1
X-153583333-C-T c.5077G>A p.G1693S Missense 31/48 - 1
X-153583334-A-G c.5076T>C p.D1692= Synonymous 31/48 - 1
X-153583336-C-G c.5074G>C p.D1692H Missense 31/48 - 2
X-153583340-C-A c.5070G>T p.T1690= Synonymous 31/48 - 3
X-153583340-C-G c.5070G>C p.T1690= Synonymous 31/48 - 2
X-153583340-C-T c.5070G>A p.T1690= Synonymous 31/48 - 2
X-153583341-G-A c.5069C>T p.T1690M Missense 31/48 - 4
X-153583347-A-C c.5063T>G p.V1688G Missense 31/48 - 1
X-153583347-CA-C c.5063del p.V1688Gfs*51 Frameshift 31/48 - 1
X-153583348-C-T c.5062G>A p.V1688M Missense 31/48 - 3
X-153583349-G-A c.5061C>T p.T1687= Synonymous 31/48 - 1
X-153583349-G-GT c.5060_5061insA p.V1688Rfs*5 Frameshift 31/48 - 1
X-153583355-C-A c.5055G>T p.T1685= Synonymous 31/48 - 1
X-153583355-C-G c.5055G>C p.T1685= Synonymous 31/48 - 1
X-153583355-C-T c.5055G>A p.T1685= Synonymous 31/48 - 2
X-153583356-G-A c.5054C>T p.T1685M Missense 31/48 - 5
X-153583366-C-A c.5044G>T p.G1682C Missense 31/48 - 1
X-153583372-C-G c.5038G>C p.G1680R Missense 31/48 - 1
X-153583374-G-A c.5036C>T p.A1679V Missense 31/48 - 1
X-153583376-C-A c.5034G>T p.A1678= Synonymous 31/48 - 2
X-153583376-C-G c.5034G>C p.A1678= Synonymous 31/48 - 2
X-153583376-C-T c.5034G>A p.A1678= Synonymous 31/48 - 2
X-153583377-G-C c.5033C>G p.A1678G Missense 31/48 - 1
X-153583377-GC-G c.5032del p.A1678Rfs*7 Frameshift 31/48 - 1
X-153583387-C-T c.5023G>A p.D1675N Missense 31/48 - 1
X-153583390-C-G c.5020G>C p.V1674L Missense 31/48 - 1
X-153583405-C-T c.5005G>A p.E1669K Missense 31/48 - 1
X-153583413-A-C c.4997T>G p.I1666S Missense 31/48 - 1
X-153583415-C-CT c.4994dup p.I1666Dfs*12 Frameshift 31/48 - 1
X-153583416-T-A c.4994A>T p.Q1665L Missense 31/48 - 1
X-153583417-G-A c.4993C>T p.Q1665* Nonsense 31/48 - 1
X-153583419-A-T c.4991T>A p.I1664N Missense 31/48 - 1
X-153583426-G-T c.4984C>A p.P1662T Missense 31/48 - 1
X-153583426-G-GGAGGA c.4983_4984insTCCTC p.P1662Sfs*12 Frameshift 31/48 - 1
X-153583428-C-A c.4982G>T p.G1661V Missense 31/48 - 1
X-153583428-C-G c.4982G>C p.G1661A Missense 31/48 - 1
X-153583429-C-T c.4981G>A p.G1661S Missense 31/48 - 1
X-153585489-T-C c.4969+130A>G - IntronicSNV - 30/47 1
X-153585583-G-T c.4969+36C>A - IntronicSNV - 30/47 1
X-153585622-G-T c.4966C>A p.L1656I Missense 30/48 - 1
X-153585625-C-A c.4963G>T p.G1655W Missense 30/48 - 1
X-153585625-C-G c.4963G>C p.G1655R Missense 30/48 - 2
X-153585625-C-T c.4963G>A p.G1655R Missense 30/48 - 2
X-153585626-G-C c.4962C>G p.H1654Q Missense 30/48 - 3
X-153585626-G-T c.4962C>A p.H1654Q Missense 30/48 - 3
X-153585634-C-G c.4954G>C p.G1652R Missense 30/48 - 1
X-153585634-C-T c.4954G>A p.G1652R Missense 30/48 - 1
X-153585642-A-G c.4946T>C p.V1649A Missense 30/48 - 1
X-153585781-G-A c.4945+21C>T - IntronicSNV - 29/47 1
X-153585790-G-A c.4945+12C>T - IntronicSNV - 29/47 1
X-153585812-G-T c.4935C>A p.C1645* Nonsense 29/48 - 1
X-153585813-C-A c.4934G>T p.C1645F Missense 29/48 - 2
X-153585821-G-A c.4926C>T p.A1642= Synonymous 29/48 - 1
X-153585824-G-A c.4923C>T p.D1641= Synonymous 29/48 - 1
X-153585827-C-A c.4920G>T p.G1640= Synonymous 29/48 - 1
X-153585827-C-G c.4920G>C p.G1640= Synonymous 29/48 - 1
X-153585827-C-T c.4920G>A p.G1640= Synonymous 29/48 - 4
X-153585829-C-G c.4918G>C p.G1640R Missense 29/48 - 1
X-153585829-C-T c.4918G>A p.G1640R Missense 29/48 - 2
X-153585830-G-A c.4917C>T p.T1639= Synonymous 29/48 - 2
X-153585830-G-C c.4917C>G p.T1639= Synonymous 29/48 - 1
X-153585830-G-T c.4917C>A p.T1639= Synonymous 29/48 - 1
X-153585837-A-T c.4910T>A p.V1637E Missense 29/48 - 1
X-153585838-C-G c.4909G>C p.V1637L Missense 29/48 - 1
X-153585838-C-T c.4909G>A p.V1637M Missense 29/48 - 5
X-153585839-G-A c.4908C>T p.A1636= Synonymous 29/48 - 1
X-153585834-GGCACGGCAC-G c.4904_4912del p.R1635_V1637del InFrameDeletion 29/48 - 1
X-153585844-G-A c.4903C>T p.R1635C Missense 29/48 - 7
X-153585848-G-A c.4899C>T p.R1633= Synonymous 29/48 - 2
X-153585848-G-C c.4899C>G p.R1633= Synonymous 29/48 - 1
X-153585848-G-T c.4899C>A p.R1633= Synonymous 29/48 - 1
X-153585849-C-G c.4898G>C p.R1633P Missense 29/48 - 1
X-153585849-C-T c.4898G>A p.R1633H Missense 29/48 - 1
X-153585850-G-A c.4897C>T p.R1633C Missense 29/48 - 2
X-153585851-G-A c.4896C>T p.Y1632= Synonymous 29/48 - 2
X-153585854-C-T c.4893G>A p.P1631= Synonymous 29/48 - 1
X-153585855-G-A c.4892C>T p.P1631L Missense 29/48 - 1
X-153585856-G-A c.4891C>T p.P1631S Missense 29/48 - 1
X-153585857-G-A c.4890C>T p.S1630= Synonymous 29/48 - 1
X-153585857-G-C c.4890C>G p.S1630= Synonymous 29/48 - 1
X-153585857-G-T c.4890C>A p.S1630= Synonymous 29/48 - 1
X-153585860-G-A c.4887C>T p.F1629= Synonymous 29/48 - 3
X-153585864-G-A c.4883C>T p.P1628L Missense 29/48 - 2
X-153585868-T-C c.4879A>G p.I1627V Missense 29/48 - 1
X-153585871-C-T c.4876G>A p.E1626K Missense 29/48 - 1
X-153585872-G-A c.4875C>T p.D1625= Synonymous 29/48 - 1
X-153585879-C-A c.4868G>T p.G1623V Missense 29/48 - 3
X-153585878-AC-A c.4868del p.G1623Vfs*34 Frameshift 29/48 - 1
X-153585880-C-A c.4867G>T p.G1623C Missense 29/48 - 1
X-153585881-G-A c.4866C>T p.Y1622= Synonymous 29/48 - 4
X-153585887-G-C c.4860C>G p.I1620M Missense 29/48 - 1
X-153585889-T-G c.4858A>C p.I1620L Missense 29/48 - 2
X-153585890-G-A c.4857C>T p.L1619= Synonymous 29/48 - 1
X-153585897-G-A c.4850C>T p.T1617I Missense 29/48 - 1
X-153585904-G-A c.4843C>T p.R1615C Missense 29/48 - 1
X-153585909-G-A c.4838C>T p.T1613I Missense 29/48 - 1
X-153585914-G-A c.4833C>T p.D1611= Synonymous 29/48 - 3
X-153585916-C-T c.4831G>A p.D1611N Missense 29/48 - 1
X-153585922-C-T c.4825G>A p.V1609M Missense 29/48 - 1
X-153585927-G-A c.4820C>T p.A1607V Missense 29/48 - 1
X-153585927-G-T c.4820C>A p.A1607D Missense 29/48 - 1
X-153585928-C-T c.4819G>A p.A1607T Missense 29/48 - 2
X-153585929-CAC-GAT c.4816_4818delinsATC p.V1606I Missense 29/48 - 1
X-153585930-A-T c.4817T>A p.V1606E Missense 29/48 - 1
X-153585931-C-T c.4816G>A p.V1606M Missense 29/48 - 1
X-153585934-T-C c.4813A>G p.T1605A Missense 29/48 - 1
X-153585935-A-G c.4812T>C p.Y1604= Synonymous 29/48 - 1
X-153585936-T-A c.4811A>T p.Y1604F Missense 29/48 - 2
X-153585938-C-A c.4809G>T p.T1603= Synonymous 29/48 - 1
X-153585938-C-G c.4809G>C p.T1603= Synonymous 29/48 - 1
X-153585938-C-T c.4809G>A p.T1603= Synonymous 29/48 - 1
X-153585939-G-A c.4808C>T p.T1603M Missense 29/48 - 4
X-153585943-C-G c.4804G>C p.G1602R Missense 29/48 - 2
X-153585943-C-T c.4804G>A p.G1602S Missense 29/48 - 4
X-153585944-G-A c.4803C>T p.D1601= Synonymous 29/48 - 1
X-153585944-G-T c.4803C>A p.D1601E Missense 29/48 - 1
X-153585946-C-T c.4801G>A p.D1601N Missense 29/48 - 2
X-153585966-G-T c.4781C>A p.T1594K Missense 29/48 - 2
X-153585968-C-T c.4779G>A p.K1593= Synonymous 29/48 - 1
X-153585974-C-A c.4773G>T p.P1591= Synonymous 29/48 - 4
X-153585974-C-G c.4773G>C p.P1591= Synonymous 29/48 - 4
X-153585974-C-T c.4773G>A p.P1591= Synonymous 29/48 - 5
X-153585975-G-A c.4772C>T p.P1591L Missense 29/48 - 1
X-153585977-C-T c.4770G>A p.K1590= Synonymous 29/48 - 1
X-153585977-CT-GA c.4769_4770delinsTC p.K1590I Missense 29/48 - 1
X-153585981-C-A c.4766G>T p.G1589V Missense 29/48 - 1
X-153585981-C-G c.4766G>C p.G1589A Missense 29/48 - 1
X-153585990-T-C c.4757A>G p.D1586G Missense 29/48 - 4
X-153586165-G-C c.4756-174C>G - IntronicSNV - 28/47 1
X-153586556-CCGGAGCTCACCGTGATCTGGACAGCCAG-C c.4738_4755+10del - SpliceDonorDeletion 28/48 28/47 1
X-153586562-C-T c.4755+5G>A - IntronicSNV - 28/47 1
X-153586569-T-C c.4753A>G p.T1585A Missense 28/48 - 1
X-153586573-C-A c.4749G>T p.Q1583H Missense 28/48 - 1
X-153586581-C-A c.4741G>T p.A1581S Missense 28/48 - 2
X-153586581-C-T c.4741G>A p.A1581T Missense 28/48 - 1
X-153586582-C-A c.4740G>T p.L1580= Synonymous 28/48 - 1
X-153586582-C-G c.4740G>C p.L1580= Synonymous 28/48 - 1
X-153586582-C-T c.4740G>A p.L1580= Synonymous 28/48 - 1
X-153586584-G-A c.4738C>T p.L1580= Synonymous 28/48 - 1
X-153586592-T-C c.4730A>G p.E1577G Missense 28/48 - 1
X-153586593-C-T c.4729G>A p.E1577K Missense 28/48 - 1
X-153586594-CCC-GCT c.4726_4728delinsAGC p.G1576S Missense 28/48 - 1
X-153586596-C-G c.4726G>C p.G1576R Missense 28/48 - 2
X-153586596-C-T c.4726G>A p.G1576R Missense 28/48 - 5
X-153586599-C-T c.4723G>A p.A1575T Missense 28/48 - 2
X-153586602-C-T c.4720G>A p.D1574N Missense 28/48 - 2
X-153586601-TC-T c.4720del p.D1574Tfs*39 Frameshift 28/48 - 1
X-153586604-T-A c.4718A>T p.K1573M Missense 28/48 - 1
X-153586607-G-A c.4715C>T p.A1572V Missense 28/48 - 1
X-153586611-C-G c.4711G>C p.D1571H Missense 28/48 - 3
X-153586611-C-T c.4711G>A p.D1571N Missense 28/48 - 2
X-153586612-G-A c.4710C>T p.I1570= Synonymous 28/48 - 1
X-153586612-G-T c.4710C>A p.I1570= Synonymous 28/48 - 1
X-153586621-C-T c.4701G>A p.E1567= Synonymous 28/48 - 3
X-153586623-C-T c.4699G>A p.E1567K Missense 28/48 - 3
X-153586626-C-T c.4696G>A p.V1566M Missense 28/48 - 4
X-153586636-G-A c.4686C>T p.A1562= Synonymous 28/48 - 1
X-153586637-G-A c.4685C>T p.A1562V Missense 28/48 - 1
X-153586637-G-C c.4685C>G p.A1562G Missense 28/48 - 1
X-153586644-C-A c.4678G>T p.V1560L Missense 28/48 - 2
X-153586644-C-G c.4678G>C p.V1560L Missense 28/48 - 1
X-153586646-C-G c.4676G>C p.G1559A Missense 28/48 - 1
X-153586646-C-T c.4676G>A p.G1559D Missense 28/48 - 1
X-153586647-C-A c.4675G>T p.G1559C Missense 28/48 - 1
X-153586653-T-C c.4669A>G p.T1557A Missense 28/48 - 1
X-153586654-G-GT c.4667dup p.N1556Kfs*46 Frameshift 28/48 - 1
X-153586656-T-C c.4666A>G p.N1556D Missense 28/48 - 1
X-153586661-CC-GT c.4660_4661delinsAC p.G1554T Missense 28/48 - 1
X-153586662-C-G c.4660G>C p.G1554R Missense 28/48 - 3
X-153586662-C-T c.4660G>A p.G1554R Missense 28/48 - 4
X-153586667-C-A c.4655G>T p.G1552V Missense 28/48 - 3
X-153586671-T-G c.4651A>C p.S1551R Missense 28/48 - 1
X-153586672-G-A c.4650C>T p.A1550= Synonymous 28/48 - 2
X-153586674-C-T c.4648G>A p.A1550T Missense 28/48 - 1
X-153586676-T-G c.4646A>C p.K1549T Missense 28/48 - 1
X-153586681-C-T c.4641G>A p.K1547= Synonymous 28/48 - 1
X-153586692-C-G c.4630G>C p.D1544H Missense 28/48 - 1
X-153586697-G-A c.4625C>T p.T1542I Missense 28/48 - 1
X-153586700-G-A c.4622C>T p.P1541L Missense 28/48 - 1
X-153586704-AGC-A c.4617_4618del p.L1540Afs*4 Frameshift 28/48 - 3
X-153586704-G-C c.4618C>G p.L1540V Missense 28/48 - 1
X-153586708-C-A c.4614G>T p.K1538N Missense 28/48 - 1
X-153586708-C-T c.4614G>A p.K1538= Synonymous 28/48 - 1
X-153586709-T-G c.4613A>C p.K1538T Missense 28/48 - 1
X-153586710-T-C c.4612A>G p.K1538E Missense 28/48 - 1
X-153586723-G-A c.4599C>T p.S1533= Synonymous 28/48 - 1
X-153586805-C-G c.4598+8G>C - IntronicSNV - 27/47 1
X-153586811-A-G c.4598+2T>C - IntronicSNV - 27/47 1
X-153586812-C-A c.4598+1G>T - IntronicSNV - 27/47 1
X-153586815-CC-AT c.4595_4596delinsAT p.R1532H Missense 27/48 - 1
X-153586815-CCG-ACA c.4594_4596delinsTGT p.R1532C Missense 27/48 - 1
X-153586814-T-TC c.4596dup p.S1533Efs*12 Frameshift 27/48 - 4
X-153586816-C-T c.4595G>A p.R1532Q Missense 27/48 - 1
X-153586817-G-A c.4594C>T p.R1532W Missense 27/48 - 3
X-153586819-G-A c.4592C>T p.P1531L Missense 27/48 - 1
X-153586830-A-C c.4581T>G p.D1527E Missense 27/48 - 1
X-153586830-A-T c.4581T>A p.D1527E Missense 27/48 - 2
X-153586832-C-T c.4579G>A p.D1527N Missense 27/48 - 3
X-153586834-C-T c.4577G>A p.G1526E Missense 27/48 - 2
X-153586835-C-A c.4576G>T p.G1526* Nonsense 27/48 - 1
X-153586835-C-T c.4576G>A p.G1526R Missense 27/48 - 1
X-153586836-A-AT c.4574dup p.Y1525* Nonsense 27/48 - 1
X-153586850-T-C c.4561A>G p.I1521V Missense 27/48 - 1
X-153586852-C-T c.4559G>A p.S1520N Missense 27/48 - 2
X-153586865-C-T c.4546G>A p.E1516K Missense 27/48 - 2
X-153586868-G-A c.4543C>T p.R1515* Nonsense 27/48 - 1
X-153586874-G-A c.4537C>T p.P1513S Missense 27/48 - 2
X-153586874-G-C c.4537C>G p.P1513A Missense 27/48 - 1
X-153586878-A-G c.4533T>C p.Y1511= Synonymous 27/48 - 2
X-153586880-A-C c.4531T>G p.Y1511D Missense 27/48 - 1
X-153586882-T-G c.4529A>C p.N1510T Missense 27/48 - 1
X-153586883-T-C c.4528A>G p.N1510D Missense 27/48 - 1
X-153586885-A-C c.4526T>G p.V1509G Missense 27/48 - 2
X-153586886-C-T c.4525G>A p.V1509I Missense 27/48 - 2
X-153586887-G-C c.4524C>G p.T1508= Synonymous 27/48 - 2
X-153586887-G-T c.4524C>A p.T1508= Synonymous 27/48 - 1
X-153586888-GT-CA c.4522_4523delinsTG p.T1508C Missense 27/48 - 1
X-153586890-C-T c.4521G>A p.Q1507= Synonymous 27/48 - 1
X-153586893-G-A c.4518C>T p.T1506= Synonymous 27/48 - 1
X-153586893-G-C c.4518C>G p.T1506= Synonymous 27/48 - 1
X-153586893-G-T c.4518C>A p.T1506= Synonymous 27/48 - 1
X-153586894-G-A c.4517C>T p.T1506I Missense 27/48 - 1
X-153586901-C-T c.4510G>A p.D1504N Missense 27/48 - 10
X-153586903-G-A c.4508C>T p.A1503V Missense 27/48 - 2
X-153586905-G-A c.4506C>T p.N1502= Synonymous 27/48 - 3
X-153586916-C-T c.4495G>A p.V1499M Missense 27/48 - 4
X-153586917-G-A c.4494C>T p.D1498= Synonymous 27/48 - 1
X-153586917-G-T c.4494C>A p.D1498E Missense 27/48 - 1
X-153586926-C-A c.4485G>T p.E1495D Missense 27/48 - 2
X-153586926-C-G c.4485G>C p.E1495D Missense 27/48 - 2
X-153586928-C-T c.4483G>A p.E1495K Missense 27/48 - 6
X-153586935-G-A c.4476C>T p.G1492= Synonymous 27/48 - 1
X-153586935-G-C c.4476C>G p.G1492= Synonymous 27/48 - 1
X-153586935-G-T c.4476C>A p.G1492= Synonymous 27/48 - 1
X-153586936-C-G c.4475G>C p.G1492A Missense 27/48 - 1
X-153586936-C-T c.4475G>A p.G1492D Missense 27/48 - 1
X-153587293-C-T c.4474+59G>A - IntronicSNV - 26/47 2
X-153587353-T-C c.4473A>G p.K1491= Synonymous 26/48 - 1
X-153587361-C-G c.4465G>C p.G1489R Missense 26/48 - 1
X-153587361-C-T c.4465G>A p.G1489R Missense 26/48 - 1
X-153587364-G-C c.4462C>G p.Q1488E Missense 26/48 - 1
X-153587367-C-T c.4459G>A p.V1487M Missense 26/48 - 1
X-153587368-T-C c.4458A>G p.K1486= Synonymous 26/48 - 1
X-153587374-C-A c.4452G>T p.Q1484H Missense 26/48 - 1
X-153587374-C-G c.4452G