VWF von Willebrand factor

Annotation transcript: NM_000552.5

1548 unique variant annotations were identified in 689 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-6058190-G-A c.8433C>T p.C2811= Synonymous 52/52 - 1
12-6058191-CA-GC c.8431_8432delinsGC p.C2811A Missense 52/52 - 2
12-6058203-G-T c.8420C>A p.S2807Y Missense 52/52 - 1
12-6058207-A-G c.8416T>C p.C2806R Missense 52/52 - 1
12-6058212-C-T c.8411G>A p.C2804Y Missense 52/52 - 2
12-6058213-A-G c.8410T>C p.C2804R Missense 52/52 - 1
12-6058221-G-T c.8402C>A p.A2801D Missense 52/52 - 1
12-6058222-C-T c.8401G>A p.A2801T Missense 52/52 - 1
12-6058245-A-G c.8378T>C p.V2793A Missense 52/52 - 2
12-6058253-ATT-TTG c.8368_8370delinsCAA p.N2790Q Missense 52/52 - 2
12-6058257-G-C c.8366C>G p.T2789S Missense 52/52 - 1
12-6058273-C-A c.8350G>T p.V2784L Missense 52/52 - 1
12-6058276-G-A c.8347C>T p.Q2783* Nonsense 52/52 - 1
12-6058282-G-A c.8341C>T p.P2781S Missense 52/52 - 1
12-6058296-G-A c.8327C>T p.P2776L Missense 52/52 - 2
12-6058300-A-G c.8323T>C p.S2775P Missense 52/52 - 1
12-6058301-G-C c.8322C>G p.C2774W Missense 52/52 - 1
12-6058305-C-G c.8318G>C p.C2773S Missense 52/52 - 5
12-6058306-A-G c.8317T>C p.C2773R Missense 52/52 - 5
12-6058306-A-T c.8317T>A p.C2773S Missense 52/52 - 4
12-6058311-C-T c.8312G>A p.C2771Y Missense 52/52 - 1
12-6058311-CA-GC c.8311_8312delinsGC p.C2771A Missense 52/52 - 1
12-6058312-A-T c.8311T>A p.C2771S Missense 52/52 - 3
12-6058311-C-G c.8312G>C p.C2771S Missense 52/52 - 3
12-6058312-A-G c.8311T>C p.C2771R Missense 52/52 - 3
12-6058343-G-A c.8280C>T p.Y2760= Synonymous 52/52 - 1
12-6058361-A-C c.8262T>G p.C2754W Missense 52/52 - 4
12-6058361-A-G c.8262T>C p.C2754= Synonymous 52/52 - 1
12-6058952-CTGGCAGTAG-C c.8244_8252del p.H2748_C2750del SpliceDonorDeletion 51/52 - 2
12-6058958-G-T c.8247C>A p.Y2749* Nonsense 51/52 - 1
12-6058989-C-T c.8216G>A p.C2739Y Missense 51/52 - 5
12-6059010-T-C c.8195A>G p.Q2732R Missense 51/52 - 1
12-6059034-C-T c.8171G>A p.C2724Y Missense 51/52 - 2
12-6059041-G-C c.8164C>G p.P2722A Missense 51/52 - 1
12-6060960-G-A c.8155+50C>T - IntronicSNV - 50/51 2
12-6061004-A-G c.8155+6T>C - IntronicSNV - 50/51 2
12-6061007-C-A c.8155+3G>T - IntronicSNV - 50/51 1
12-6061007-C-G c.8155+3G>C - IntronicSNV - 50/51 2
12-6061016-C-T c.8149G>A p.D2717N Missense 50/52 - 1
12-6061020-G-T c.8145C>A p.C2715* Nonsense 50/52 - 1
12-6061069-T-G c.8116-20A>C - IntronicSNV - 49/51 1
12-6061491-A-G c.8115+66T>C - IntronicSNV - 49/51 1
12-6061535-G-T c.8115+22C>A - IntronicSNV - 49/51 1
12-6061559-C-T c.8113G>A p.G2705R Missense 49/52 - 11
12-6061559-C-G c.8113G>C p.G2705R Missense 49/52 - 2
12-6061567-A-T c.8105T>A p.L2702Q Missense 49/52 - 1
12-6061588-G-A c.8084C>T p.P2695L Missense 49/52 - 1
12-6061588-G-C c.8084C>G p.P2695R Missense 49/52 - 3
12-6061593-G-A c.8079C>T p.C2693= Synonymous 49/52 - 1
12-6061594-C-T c.8078G>A p.C2693Y Missense 49/52 - 3
12-6061604-C-A c.8068G>T p.V2690F Missense 49/52 - 1
12-6061631-T-TA c.8040_8041insT p.R2681* Nonsense 49/52 - 1
12-6061627-CCT-C c.8043_8044del p.G2682Rfs*15 Frameshift 49/52 - 1
12-6061636-T-C c.8036A>G p.N2679S Missense 49/52 - 1
12-6061645-C-A c.8027G>T p.C2676F Missense 49/52 - 1
12-6061660-C-T c.8012G>A p.C2671Y Missense 49/52 - 4
12-6061675-G-A c.7997C>T p.T2666M Missense 49/52 - 2
12-6061684-C-G c.7988G>C p.R2663P Missense 49/52 - 1
12-6061685-G-A c.7987C>T p.R2663C Missense 49/52 - 1
12-6062697-T-C c.7951A>G p.I2651V Missense 48/52 - 1
12-6062708-G-A c.7940C>T p.T2647M Missense 48/52 - 5
12-6062733-C-T c.7915G>A p.E2639K Missense 48/52 - 1
12-6062735-C-G c.7913G>C p.G2638A Missense 48/52 - 1
12-6062742-T-A c.7906A>T p.N2636Y Missense 48/52 - 1
12-6062743-A-C c.7905T>G p.N2635K Missense 48/52 - 1
12-6062878-G-A c.7888-118C>T - IntronicSNV - 47/51 1
12-6062894-A-G c.7888-134T>C - IntronicSNV - 47/51 1
12-6063142-C-T c.7888-382G>A - IntronicSNV - 47/51 1
12-6063905-G-A c.7888-1145C>T - IntronicSNV - 47/51 1
12-6070845-A-G c.7887+5807T>C - IntronicSNV - 47/51 1
12-6071516-T-C c.7887+5136A>G - IntronicSNV - 47/51 1
12-6073520-T-A c.7887+3132A>T - IntronicSNV - 47/51 1
12-6073520-T-G c.7887+3132A>C - IntronicSNV - 47/51 1
12-6074016-A-G c.7887+2636T>C - IntronicSNV - 47/51 1
12-6074472-C-A c.7887+2180G>T - IntronicSNV - 47/51 7
12-6074650-C-T c.7887+2002G>A - IntronicSNV - 47/51 1
12-6076650-A-C c.7887+2T>G - IntronicSNV - 47/51 1
12-6076650-A-T c.7887+2T>A - IntronicSNV - 47/51 1
12-6076659-C-T c.7880G>A p.C2627Y Missense 47/52 - 1
12-6076683-C-T c.7856G>A p.C2619Y Missense 47/52 - 1
12-6076728-C-T c.7811G>A p.R2604H Missense 47/52 - 1
12-6077266-G-A c.7770+27C>T - IntronicSNV - 46/51 1
12-6077285-C-T c.7770+8G>A - IntronicSNV - 46/51 1
12-6077292-C-T c.7770+1G>A - IntronicSNV - 46/51 1
12-6077303-G-C c.7760C>G p.T2587S Missense 46/52 - 1
12-6077304-T-A c.7759A>T p.T2587S Missense 46/52 - 1
12-6077334-C-G c.7730-1G>C - IntronicSNV - 45/51 1
12-6078125-T-A c.7729+252A>T - IntronicSNV - 45/51 3
12-6078370-G-A c.7729+7C>T - IntronicSNV - 45/51 1
12-6078376-CCACAG-C c.7725_7729del p.C2576Afs*59 SpliceDonorDeletion 45/52 - 1
12-6078394-C-T c.7712G>A p.C2571Y Missense 45/52 - 1
12-6078419-G-C c.7687C>G p.L2563V Missense 45/52 - 1
12-6078424-A-T c.7682T>A p.F2561Y Missense 45/52 - 7
12-6078426-AGCCCGAGGGGCAGAC-A c.7666_7680del p.V2556_G2560del InFrameDeletion 45/52 - 1
12-6078427-C-A c.7679G>T p.G2560V Missense 45/52 - 1
12-6078426-GCCCGAGGGGCAGA-G c.7667_7679del p.V2556Afs*4 Frameshift 45/52 - 1
12-6078429-C-A c.7677G>T p.S2559= Synonymous 45/52 - 1
12-6078434-G-A c.7672C>T p.P2558S Missense 45/52 - 1
12-6078437-A-T c.7669T>A p.C2557S Missense 45/52 - 1
12-6078436-C-G c.7670G>C p.C2557S Missense 45/52 - 1
12-6078442-G-C c.7664C>G p.P2555R Missense 45/52 - 1
12-6078455-G-A c.7651C>T p.Q2551* Nonsense 45/52 - 1
12-6078470-T-A c.7636A>T p.N2546Y Missense 45/52 - 2
12-6078479-G-A c.7627C>T p.Q2543* Nonsense 45/52 - 1
12-6078487-A-T c.7619T>A p.V2540D Missense 45/52 - 1
12-6078487-AC-A c.7618del p.V2540Sfs*24 Frameshift 45/52 - 1
12-6078491-C-A c.7615G>T p.E2539* Nonsense 45/52 - 1
12-6078502-C-T c.7604G>A p.R2535Q Missense 45/52 - 3
12-6078502-C-G c.7604G>C p.R2535P Missense 45/52 - 1
12-6078503-G-A c.7603C>T p.R2535* Nonsense 45/52 - 12
12-6078507-A-T c.7599T>A p.C2533* Nonsense 45/52 - 1
12-6078513-A-C c.7593T>G p.N2531K Missense 45/52 - 1
12-6078513-A-T c.7593T>A p.N2531K Missense 45/52 - 1
12-6078528-G-T c.7578C>A p.N2526K Missense 45/52 - 1
12-6078527-GGTTCTCCGGGGA-G c.7567_7578del p.S2523_N2526del InFrameDeletion 45/52 - 1
12-6078524-AGGGGTTCTCC-A c.7572_7581del p.E2525Afs*9 Frameshift 45/52 - 1
12-6078534-C-T c.7572G>A p.P2524= Synonymous 45/52 - 1
12-6078535-G-A c.7571C>T p.P2524L Missense 45/52 - 1
12-6078548-G-A c.7558C>T p.Q2520* Nonsense 45/52 - 1
12-6079058-C-T c.7549-501G>A - IntronicSNV - 44/51 1
12-6080290-G-A c.7548+475C>T - IntronicSNV - 44/51 1
12-6080577-G-C c.7548+188C>G - IntronicSNV - 44/51 1
12-6080786-G-T c.7527C>A p.D2509E Missense 44/52 - 4
12-6080786-G-C c.7527C>G p.D2509E Missense 44/52 - 4
12-6080787-T-G c.7526A>C p.D2509A Missense 44/52 - 1
12-6080787-T-C c.7526A>G p.D2509G Missense 44/52 - 1
12-6080787-TCC-T c.7524_7525del p.D2509Lfs*23 Frameshift 44/52 - 1
12-6080793-CG-TC c.7519_7520delinsGA p.R2507E Missense 44/52 - 1
12-6080793-CG-GC c.7519_7520delinsGC p.R2507A Missense 44/52 - 1
12-6080820-G-T c.7493C>A p.A2498D Missense 44/52 - 1
12-6080842-A-G c.7471T>C p.C2491R Missense 44/52 - 2
12-6080849-G-A c.7464C>T p.G2488= Synonymous 44/52 - 5
12-6080864-G-GT c.7448dup p.Y2483* Nonsense 44/52 - 1
12-6081824-G-A c.7438-949C>T - IntronicSNV - 43/51 1
12-6081938-C-T c.7438-1063G>A - IntronicSNV - 43/51 2
12-6082113-A-G c.7438-1238T>C - IntronicSNV - 43/51 2
12-6082558-A-T c.7438-1683T>A - IntronicSNV - 43/51 2
12-6082799-A-G c.7438-1924T>C - IntronicSNV - 43/51 1
12-6084191-G-C c.7437+1086C>G - IntronicSNV - 43/51 2
12-6084191-G-T c.7437+1086C>A - IntronicSNV - 43/51 2
12-6084323-A-G c.7437+954T>C - IntronicSNV - 43/51 1
12-6085277-C-T c.7437G>A p.S2479= Synonymous 43/52 - 5
12-6085281-C-T c.7433G>A p.R2478Q Missense 43/52 - 1
12-6085284-C-T c.7430G>A p.C2477Y Missense 43/52 - 1
12-6085285-A-T c.7429T>A p.C2477S Missense 43/52 - 2
12-6085284-C-G c.7430G>C p.C2477S Missense 43/52 - 3
12-6085306-G-A c.7408C>T p.Q2470* Nonsense 43/52 - 2
12-6085309-A-G c.7405T>C p.S2469P Missense 43/52 - 1
12-6085315-G-A c.7399C>T p.Q2467* Nonsense 43/52 - 1
12-6085321-C-T c.7393G>A p.V2465M Missense 43/52 - 1
12-6085324-G-A c.7390C>T p.R2464C Missense 43/52 - 5
12-6085331-C-G c.7383G>C p.M2461I Missense 43/52 - 1
12-6085331-C-T c.7383G>A p.M2461I Missense 43/52 - 1
12-6085331-C-A c.7383G>T p.M2461I Missense 43/52 - 1
12-6085338-G-A c.7376C>T p.A2459V Missense 43/52 - 1
12-6085353-G-T c.7361C>A p.T2454N Missense 43/52 - 1
12-6085362-C-T c.7352G>A p.C2451Y Missense 43/52 - 1
12-6085370-G-A c.7344C>T p.C2448= Synonymous 43/52 - 2
12-6085371-C-T c.7343G>A p.C2448Y Missense 43/52 - 1
12-6085382-C-T c.7332G>A p.W2444* Nonsense 43/52 - 1
12-6085388-C-T c.7326G>A p.Q2442= Synonymous 43/52 - 1
12-6085388-C-A c.7326G>T p.Q2442H Missense 43/52 - 1
12-6085388-C-G c.7326G>C p.Q2442H Missense 43/52 - 1
12-6085393-C-A c.7321G>T p.G2441C Missense 43/52 - 1
12-6085396-C-T c.7318G>A p.V2440M Missense 43/52 - 1
12-6085414-G-A c.7300C>T p.R2434* Nonsense 43/52 - 2
12-6085445-G-A c.7288-19C>T - IntronicSNV - 42/51 1
12-6085445-G-C c.7288-19C>G - IntronicSNV - 42/51 1
12-6085447-G-A c.7288-21C>T - IntronicSNV - 42/51 1
12-6085513-A-G c.7288-87T>C - IntronicSNV - 42/51 1
12-6086265-T-C c.7288-839A>G - IntronicSNV - 42/51 3
12-6089908-ATTCCAGACAAATAAAGATCTGTTCCAGCCCTAACAGGCTCCAAGGAGAGATGACTGCAG-A c.7287+986_7287+1044del - Unclassified - 42/51 1
12-6090303-T-C c.7287+649A>G - IntronicSNV - 42/51 1
12-6090958-G-T c.7281C>A p.P2427= Synonymous 42/52 - 1
12-6090985-A-G c.7254T>C p.C2418= Synonymous 42/52 - 1
12-6090995-G-A c.7244C>T p.T2415I Missense 42/52 - 1
12-6091000-A-G c.7239T>C p.T2413= Synonymous 42/52 - 1
12-6091000-A-C c.7239T>G p.T2413= Synonymous 42/52 - 1
12-6091019-A-G c.7220T>C p.L2407P Missense 42/52 - 1
12-6091020-G-A c.7219C>T p.L2407F Missense 42/52 - 1
12-6091038-A-C c.7201T>G p.S2401A Missense 42/52 - 1
12-6091039-GTT-TTG c.7198_7200delinsCAA p.N2400Q Missense 42/52 - 2
12-6091057-A-C c.7182T>G p.C2394W Missense 42/52 - 1
12-6091063-A-C c.7176T>G p.Y2392* Nonsense 42/52 - 1
12-6091080-G-T c.7159C>A p.Q2387K Missense 42/52 - 1
12-6091089-G-A c.7150C>T p.R2384W Missense 42/52 - 3
12-6091094-G-T c.7145C>A p.T2382N Missense 42/52 - 1
12-6091103-C-T c.7136G>A p.R2379H Missense 42/52 - 2
12-6091104-G-A c.7135C>T p.R2379C Missense 42/52 - 1
12-6091107-G-GC c.7131dup p.H2378Afs*13 Frameshift 42/52 - 1
12-6091113-G-A c.7126C>T p.P2376S Missense 42/52 - 1
12-6091108-C-CG c.7130dup p.H2378Afs*13 Frameshift 42/52 - 2
12-6091125-G-A c.7114C>T p.P2372S Missense 42/52 - 1
12-6091138-G-T c.7101C>A p.C2367* Nonsense 42/52 - 1
12-6091148-T-C c.7091A>G p.K2364R Missense 42/52 - 1
12-6091152-T-C c.7087A>G p.R2363G Missense 42/52 - 1
12-6091154-C-A c.7085G>T p.C2362F Missense 42/52 - 9
12-6091159-T-C c.7082-2A>G - IntronicSNV - 41/51 1
12-6091164-G-A c.7082-7C>T - IntronicSNV - 41/51 1
12-6091170-C-G c.7082-13G>C - IntronicSNV - 41/51 1
12-6092310-C-A c.7081+6G>T - IntronicSNV - 41/51 1
12-6092338-C-G c.7059G>C p.E2353D Missense 41/52 - 1
12-6092340-C-T c.7057G>A p.E2353K Missense 41/52 - 1
12-6092341-G-A c.7056C>T p.G2352= Synonymous 41/52 - 4
12-6092341-G-C c.7056C>G p.G2352= Synonymous 41/52 - 1
12-6092341-G-T c.7056C>A p.G2352= Synonymous 41/52 - 1
12-6092355-G-A c.7042C>T p.L2348= Synonymous 41/52 - 1
12-6092365-G-A c.7032C>T p.L2344= Synonymous 41/52 - 1
12-6092372-C-A c.7025G>T p.R2342L Missense 41/52 - 1
12-6092372-C-T c.7025G>A p.R2342H Missense 41/52 - 1
12-6092375-T-G c.7022A>C p.E2341A Missense 41/52 - 1
12-6092390-G-A c.7007C>T p.P2336L Missense 41/52 - 1
12-6092408-A-C c.6989T>G p.V2330G Missense 41/52 - 1
12-6092416-A-C c.6981T>G p.C2327W Missense 41/52 - 1
12-6092417-C-T c.6980G>A p.C2327Y Missense 41/52 - 1
12-6093128-G-A c.6977-708C>T - IntronicSNV - 40/51 2
12-6093132-G-GGATGGATGGATAGATA c.6977-713_6977-712insTATCTATCCATCCATC - IntronicInsertion - 40/51 1
12-6093136-A-G c.6977-716T>C - IntronicSNV - 40/51 6
12-6093140-G-A c.6977-720C>T - IntronicSNV - 40/51 1
12-6093199-C-T c.6977-779G>A - IntronicSNV - 40/51 1
12-6093282-A-T c.6977-862T>A - IntronicSNV - 40/51 1
12-6093287-C-T c.6977-867G>A - IntronicSNV - 40/51 1
12-6093300-T-C c.6977-880A>G - IntronicSNV - 40/51 2
12-6093952-T-C c.6976+259A>G - IntronicSNV - 40/51 1
12-6094214-A-T c.6973T>A p.C2325S Missense 40/52 - 1
12-6094222-T-A c.6965A>T p.E2322V Missense 40/52 - 1
12-6094223-C-T c.6964G>A p.E2322K Missense 40/52 - 1
12-6094247-G-A c.6940C>T p.Q2314* Nonsense 40/52 - 1
12-6094249-C-T c.6938G>A p.R2313H Missense 40/52 - 2
12-6094250-G-A c.6937C>T p.R2313C Missense 40/52 - 1
12-6094255-C-T c.6932G>A p.R2311H Missense 40/52 - 1
12-6094256-G-A c.6931C>T p.R2311C Missense 40/52 - 1
12-6094270-A-C c.6917T>G p.L2306R Missense 40/52 - 1
12-6094270-CA-C c.6917del p.L2306Rfs*4 Frameshift 40/52 - 1
12-6094276-C-T c.6911G>A p.C2304Y Missense 40/52 - 3
12-6094278-C-G c.6909G>C p.T2303= Synonymous 40/52 - 1
12-6094277-ACGTGGGAG-A c.6902_6909del p.A2301Vfs*5 SpliceAcceptorDeletion 40/52 39/51 1
12-6094290-A-T c.6902-5T>A - IntronicSNV - 39/51 1
12-6094291-G-A c.6902-6C>T - IntronicSNV - 39/51 1
12-6094291-G-C c.6902-6C>G - IntronicSNV - 39/51 1
12-6094731-T-C c.6899A>G p.K2300R Missense 39/52 - 1
12-6094737-G-A c.6893C>T p.T2298M Missense 39/52 - 1
12-6094738-T-C c.6892A>G p.T2298A Missense 39/52 - 1
12-6094740-G-A c.6890C>T p.P2297L Missense 39/52 - 1
12-6094752-G-A c.6878C>T p.T2293M Missense 39/52 - 1
12-6094771-G-A c.6859C>T p.R2287W Missense 39/52 - 11
12-6094771-G-C c.6859C>G p.R2287G Missense 39/52 - 2
12-6094774-CCGCT-C c.6853_6856del p.S2285Gfs*24 Frameshift 39/52 - 1
12-6094783-A-G c.6847T>C p.C2283R Missense 39/52 - 3
12-6094784-T-C c.6846A>G p.T2282= Synonymous 39/52 - 1
12-6094821-G-A c.6809C>T p.A2270V Missense 39/52 - 1
12-6094845-G-A c.6799-14C>T - IntronicSNV - 38/51 1
12-6094845-G-C c.6799-14C>G - IntronicSNV - 38/51 1
12-6095274-T-C c.6799-443A>G - IntronicSNV - 38/51 4
12-6096676-G-A c.6799-1845C>T - IntronicSNV - 38/51 1
12-6096691-G-A c.6799-1860C>T - IntronicSNV - 38/51 1
12-6096712-A-G c.6799-1881T>C - IntronicSNV - 38/51 1
12-6096816-C-T c.6799-1985G>A - IntronicSNV - 38/51 1
12-6097657-C-A c.6799-2826G>T - IntronicSNV - 38/51 1
12-6097657-C-T c.6799-2826G>A - IntronicSNV - 38/51 1
12-6099453-T-C c.6798+1532A>G - IntronicSNV - 38/51 1
12-6099849-C-A c.6798+1136G>T - IntronicSNV - 38/51 1
12-6099849-C-G c.6798+1136G>C - IntronicSNV - 38/51 1
12-6100485-A-G c.6798+500T>C - IntronicSNV - 38/51 1
12-6100796-C-T c.6798+189G>A - IntronicSNV - 38/51 1
12-6100993-G-A c.6790C>T p.Q2264* Nonsense 38/52 - 1
12-6101014-A-T c.6769T>A p.C2257S Missense 38/52 - 1
12-6101013-C-G c.6770G>C p.C2257S Missense 38/52 - 1
12-6101027-C-T c.6756G>A p.E2252= Synonymous 38/52 - 1
12-6101065-C-G c.6718G>C p.D2240H Missense 38/52 - 1
12-6101074-A-G c.6709T>C p.C2237R Missense 38/52 - 1
12-6101086-C-T c.6697G>A p.E2233K Missense 38/52 - 1
12-6101106-G-A c.6677C>T p.S2226F Missense 38/52 - 1
12-6101108-G-A c.6675C>T p.S2225= Synonymous 38/52 - 1
12-6101126-G-A c.6657C>T p.H2219= Synonymous 38/52 - 1
12-6101149-A-G c.6634T>C p.C2212R Missense 38/52 - 1
12-6101151-TG-GC c.6631_6632delinsGC p.H2211A Missense 38/52 - 1
12-6102826-T-TAC c.6598+201_6598+202insGT - IntronicInsertion - 37/51 1
12-6102826-T-TACAC c.6598+201_6598+202insGTGT - IntronicInsertion - 37/51 1
12-6102902-C-T c.6598+126G>A - IntronicSNV - 37/51 1
12-6102907-G-A c.6598+121C>T - IntronicSNV - 37/51 1
12-6103030-C-T c.6596G>A p.C2199Y Missense 37/52 - 1
12-6103047-C-G c.6579G>C p.W2193C Missense 37/52 - 1
12-6103049-A-T c.6577T>A p.W2193R Missense 37/52 - 1
12-6103049-A-G c.6577T>C p.W2193R Missense 37/52 - 1
12-6103057-C-T c.6569G>A p.C2190Y Missense 37/52 - 1
12-6103064-C-T c.6562G>A p.G2188R Missense 37/52 - 1
12-6103064-C-G c.6562G>C p.G2188R Missense 37/52 - 1
12-6103072-C-T c.6554G>A p.R2185Q Missense 37/52 - 10
12-6103073-G-A c.6553C>T p.R2185W Missense 37/52 - 1
12-6103075-C-G c.6551G>C p.C2184S Missense 37/52 - 1
12-6103090-G-A c.6536C>T p.S2179F Missense 37/52 - 8
12-6103094-C-A c.6532G>T p.A2178S Missense 37/52 - 3
12-6103097-T-G c.6529A>C p.I2177L Missense 37/52 - 2
12-6103106-A-C c.6520T>G p.C2174G Missense 37/52 - 1
12-6103122-G-T c.6504C>A p.C2168* Nonsense 37/52 - 1
12-6103147-T-C c.6479A>G p.Y2160C Missense 37/52 - 2
12-6103150-A-C c.6476T>G p.F2159C Missense 37/52 - 1
12-6103171-T-C c.6455A>G p.K2152R Missense 37/52 - 1
12-6103176-G-T c.6450C>A p.C2150* Nonsense 37/52 - 1
12-6103177-C-G c.6449G>C p.C2150S Missense 37/52 - 1
12-6103180-T-C c.6446A>G p.E2149G Missense 37/52 - 1
12-6103193-G-A c.6433C>T p.P2145S Missense 37/52 - 1
12-6103193-G-GT c.6432dup p.P2145Tfs*5 Frameshift 37/52 - 1
12-6103202-G-A c.6424C>T p.L2142F Missense 37/52 - 1
12-6103208-G-A c.6418C>T p.Q2140* Nonsense 37/52 - 1
12-6103210-C-T c.6416G>A p.C2139Y Missense 37/52 - 1
12-6103273-C-T c.6353G>A p.R2118Q Missense 37/52 - 1
12-6103274-G-A c.6352C>T p.R2118W Missense 37/52 - 1
12-6103281-A-T c.6345T>A p.T2115= Synonymous 37/52 - 1
12-6103323-G-T c.6303C>A p.G2101= Synonymous 37/52 - 1
12-6103365-G-T c.6261C>A p.I2087= Synonymous 37/52 - 1
12-6103365-G-A c.6261C>T p.I2087= Synonymous 37/52 - 1
12-6103416-G-A c.6257-47C>T - IntronicSNV - 36/51 1
12-6103416-G-C c.6257-47C>G - IntronicSNV - 36/51 1
12-6103583-C-T c.6254G>A p.C2085Y Missense 36/52 - 1
12-6103587-G-C c.6250C>G p.L2084V Missense 36/52 - 1
12-6103650-G-A c.6187C>T p.P2063S Missense 36/52 - 18
12-6103654-GA-G c.6182del p.F2061Sfs*38 Frameshift 36/52 - 1
12-6103685-C-T c.6152G>A p.R2051K Missense 36/52 - 1
12-6103686-T-A c.6151A>T p.R2051* Nonsense 36/52 - 1
12-6103699-G-C c.6138C>G p.I2046M Missense 36/52 - 1
12-6103701-T-C c.6136A>G p.I2046V Missense 36/52 - 1
12-6103714-G-T c.6123C>A p.N2041K Missense 36/52 - 1
12-6103725-T-C c.6112A>G p.M2038V Missense 36/52 - 1
12-6103733-C-T c.6104G>A p.G2035D Missense 36/52 - 2
12-6103737-C-T c.6100G>A p.V2034M Missense 36/52 - 1
12-6103738-G-A c.6099C>T p.Y2033= Synonymous 36/52 - 2
12-6103773-C-T c.6064G>A p.V2022M Missense 36/52 - 1
12-6103844-G-A c.6064-71C>T - IntronicSNV - 35/51 1
12-6103998-C-T c.6064-225G>A - IntronicSNV - 35/51 2
12-6104868-G-A c.6063+300C>T - IntronicSNV - 35/51 1
12-6105180-G-T c.6051C>A p.H2017Q Missense 35/52 - 1
12-6105180-G-C c.6051C>G p.H2017Q Missense 35/52 - 1
12-6105208-T-C c.6023A>G p.K2008R Missense 35/52 - 1
12-6105216-G-C c.6015C>G p.I2005M Missense 35/52 - 1
12-6105249-G-GA c.5981_5982insT p.G1996Wfs*24 Frameshift 35/52 - 1
12-6105309-A-T c.5922T>A p.Y1974* Nonsense 35/52 - 1
12-6105356-C-T c.5875G>A p.V1959M Missense 35/52 - 1
12-6105370-G-A c.5861C>T p.S1954F Missense 35/52 - 1
12-6105380-T-C c.5851A>G p.T1951A Missense 35/52 - 2
12-6105387-G-A c.5844C>T p.C1948= Synonymous 35/52 - 8
12-6105396-G-C c.5843-8C>G - IntronicSNV - 34/51 2
12-6105499-T-A c.5843-111A>T - IntronicSNV - 34/51 2
12-6105499-T-C c.5843-111A>G - IntronicSNV - 34/51 2
12-6106018-T-C c.5843-630A>G - IntronicSNV - 34/51 2
12-6106255-C-A c.5843-867G>T - IntronicSNV - 34/51 1
12-6106255-C-T c.5843-867G>A - IntronicSNV - 34/51 1
12-6111476-A-G c.5843-6088T>C - IntronicSNV - 34/51 2
12-6111476-A-T c.5843-6088T>A - IntronicSNV - 34/51 2
12-6114644-T-A c.5842+6139A>T - IntronicSNV - 34/51 1
12-6114644-T-C c.5842+6139A>G - IntronicSNV - 34/51 1
12-6116457-A-G c.5842+4326T>C - IntronicSNV - 34/51 1
12-6119786-ACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTC-A c.5842+939_5842+997del - Unclassified - 34/51 1
12-6120778-C-T c.5842+5G>A - IntronicSNV - 34/51 1
12-6120782-C-G c.5842+1G>C - IntronicSNV - 34/51 3
12-6120783-CAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTA-C c.5784_5842del p.N1929Rfs*14 Unclassified 34/52 - 3
12-6120788-C-A c.5837G>T p.C1946F Missense 34/52 - 1
12-6120794-C-T c.5831G>A p.W1944* Nonsense 34/52 - 1
12-6120793-C-T c.5832G>A p.W1944* Nonsense 34/52 - 1
12-6120797-C-T c.5828G>A p.R1943H Missense 34/52 - 2
12-6120824-A-C c.5801T>G p.V1934G Missense 34/52 - 1
12-6120827-G-A c.5798C>T p.P1933L Missense 34/52 - 1
12-6120832-C-G c.5793G>C p.Q1931H Missense 34/52 - 1
12-6120834-G-A c.5791C>T p.Q1931* Nonsense 34/52 - 1
12-6120835-G-C c.5790C>G p.S1930R Missense 34/52 - 1
12-6120846-A-G c.5779T>C p.C1927R Missense 34/52 - 2
12-6120857-A-G c.5768T>C p.L1923P Missense 34/52 - 1
12-6120860-C-T c.5765G>A p.G1922E Missense 34/52 - 1
12-6120867-C-T c.5758G>A p.D1920N Missense 34/52 - 1
12-6120878-C-T c.5747G>A p.R1916Q Missense 34/52 - 1
12-6120886-C-G c.5739G>C p.K1913N Missense 34/52 - 1
12-6120896-G-A c.5729C>T p.T1910I Missense 34/52 - 1
12-6120900-G-C c.5725C>G p.Q1909E Missense 34/52 - 1
12-6120931-C-G c.5694G>C p.Q1898H Missense 34/52 - 1
12-6121078-C-T c.5665-118G>A - IntronicSNV - 33/51 2
12-6121125-C-A c.5664+128G>T - IntronicSNV - 33/51 1
12-6121125-C-G c.5664+128G>C - IntronicSNV - 33/51 1
12-6121125-C-T c.5664+128G>A - IntronicSNV - 33/51 1
12-6121147-A-G c.5664+106T>C - IntronicSNV - 33/51 1
12-6121190-TG-T c.5664+62del - IntronicDeletion - 33/51 1
12-6121220-C-T c.5664+33G>A - IntronicSNV - 33/51 1
12-6121238-C-T c.5664+15G>A - IntronicSNV - 33/51 1
12-6121251-A-G c.5664+2T>C - IntronicSNV - 33/51 2
12-6121256-C-A c.5661G>T p.K1887N Missense 33/52 - 1
12-6121276-C-T c.5641G>A p.D1881N Missense 33/52 - 1
12-6121281-C-A c.5636G>T p.C1879F Missense 33/52 - 1
12-6122628-A-C c.5620+19T>G - IntronicSNV - 32/51 1
12-6122645-A-C c.5620+2T>G - IntronicSNV - 32/51 1
12-6122648-CAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGA-C c.5561_5619del p.I1854Rfs*4 Unclassified 32/52 - 1
12-6122674-T-C c.5593A>G p.N1865D Missense 32/52 - 1
12-6122690-G-T c.5577C>A p.T1859= Synonymous 32/52 - 1
12-6122710-G-A c.5557C>T p.R1853* Nonsense 32/52 - 4
12-6122725-C-T c.5542G>A p.V1848M Missense 32/52 - 1
12-6122734-C-T c.5533G>A p.D1845N Missense 32/52 - 1
12-6122757-C-T c.5510G>A p.R1837Q Missense 32/52 - 1
12-6122758-G-A c.5509C>T p.R1837W Missense 32/52 - 1
12-6122775-T-C c.5492A>G p.Y1831C Missense 32/52 - 1
12-6122796-G-T c.5471C>A p.P1824H Missense 32/52 - 4
12-6122797-G-A c.5470C>T p.P1824S Missense 32/52 - 1
12-6122802-A-C c.5465T>G p.V1822G Missense 32/52 - 4
12-6125253-A-G c.5455+2T>C - IntronicSNV - 31/51 1
12-6125254-C-T c.5455+1G>A - IntronicSNV - 31/51 1
12-6125257-T-C c.5453A>G p.N1818S Missense 31/52 - 1
12-6125281-G-T c.5429C>A p.A1810E Missense 31/52 - 1
12-6125307-C-T c.5403G>A p.T1801= Synonymous 31/52 - 1
12-6125326-G-A c.5384C>T p.A1795V Missense 31/52 - 3
12-6125341-G-A c.5369C>T p.P1790L Missense 31/52 - 1
12-6125342-G-A c.5368C>T p.P1790S Missense 31/52 - 1
12-6125353-TG-GC c.5356_5357delinsGC p.H1786A Missense 31/52 - 2
12-6125354-G-C c.5356C>G p.H1786D Missense 31/52 - 12
12-6125356-A-G c.5354T>C p.M1785T Missense 31/52 - 1
12-6125363-A-C c.5347T>G p.S1783A Missense 31/52 - 13
12-6125374-C-A c.5336G>T p.R1779L Missense 31/52 - 1
12-6125375-G-A c.5335C>T p.R1779* Nonsense 31/52 - 2
12-6125397-C-A c.5313G>T p.G1771= Synonymous 31/52 - 1
12-6125417-T-G c.5312-19A>C - IntronicSNV - 30/51 1
12-6125421-G-A c.5312-23C>T - IntronicSNV - 30/51 1
12-6125422-C-T c.5312-24G>A - IntronicSNV - 30/51 2
12-6125422-C-G c.5312-24G>C - IntronicSNV - 30/51 2
12-6125450-C-T c.5312-52G>A - IntronicSNV - 30/51 1
12-6125461-C-T c.5312-63G>A - IntronicSNV - 30/51 1
12-6125491-A-G c.5312-93T>C - IntronicSNV - 30/51 1
12-6125676-C-T c.5311+6G>A - IntronicSNV - 30/51 1
12-6125708-T-C c.5285A>G p.Q1762R Missense 30/52 - 2
12-6125711-A-T c.5282T>A p.M1761K Missense 30/52 - 1
12-6125715-C-T c.5278G>A p.V1760I Missense 30/52 - 6
12-6125716-G-A c.5277C>T p.D1759= Synonymous 30/52 - 1
12-6125723-AG-GC c.5269_5270delinsGC p.L1757A Missense 30/52 - 1
12-6125736-G-A c.5257C>T p.H1753Y Missense 30/52 - 1
12-6125754-C-T c.5239G>A p.V1747M Missense 30/52 - 1
12-6125758-C-G c.5235G>C p.W1745C Missense 30/52 - 13
12-6125758-C-A c.5235G>T p.W1745C Missense 30/52 - 13
12-6125768-T-G c.5225A>C p.D1742A Missense 30/52 - 1
12-6125771-A-G c.5222T>C p.I1741T Missense 30/52 - 1
12-6125791-C-A c.5202G>T p.Q1734H Missense 30/52 - 1
12-6125791-C-G c.5202G>C p.Q1734H Missense 30/52 - 1
12-6125793-G-A c.5200C>T p.Q1734* Nonsense 30/52 - 2
12-6125795-A-G c.5198T>C p.L1733P Missense 30/52 - 2
12-6125802-A-T c.5191T>A p.S1731T Missense 30/52 - 15
12-6125816-C-T c.5177G>A p.R1726H Missense 30/52 - 1
12-6125820-G-A c.5173C>T p.P1725S Missense 30/52 - 4
12-6125909-C-G c.5170+11G>C - IntronicSNV - 29/51 1
12-6125909-C-T c.5170+11G>A - IntronicSNV - 29/51 1
12-6125910-G-A c.5170+10C>T - IntronicSNV - 29/51 2
12-6125910-G-C c.5170+10C>G - IntronicSNV - 29/51 2
12-6125919-C-T c.5170+1G>A - IntronicSNV - 29/51 1
12-6125944-C-T c.5146G>A p.A1716T Missense 29/52 - 1
12-6125968-C-T c.5122G>A p.D1708N Missense 29/52 - 1
12-6125993-G-A c.5097C>T p.S1699= Synonymous 29/52 - 1
12-6125993-G-C c.5097C>G p.S1699= Synonymous 29/52 - 1
12-6125993-G-T c.5097C>A p.S1699= Synonymous 29/52 - 1
12-6125994-G-A c.5096C>T p.S1699F Missense 29/52 - 1
12-6126002-CCAG-C c.5086_5088del p.L1696del InFrameDeletion 29/52 - 1
12-6126003-A-C c.5087T>G p.L1696R Missense 29/52 - 3
12-6126002-CAGG-C c.5085_5087del p.L1696del InFrameDeletion 29/52 - 1
12-6126008-AAGGATC-A c.5076_5081del p.I1693_L1694del InFrameDeletion 29/52 - 1
12-6126016-C-G c.5074G>C p.V1692L Missense 29/52 - 1
12-6126016-C-A c.5074G>T p.V1692L Missense 29/52 - 1
12-6126016-C-T c.5074G>A p.V1692M Missense 29/52 - 1
12-6126023-G-C c.5067C>G p.P1689= Synonymous 29/52 - 1
12-6127530-C-A c.5053+1G>T - IntronicSNV - 28/51 1
12-6127535-T-G c.5049A>C p.A1683= Synonymous 28/52 - 1
12-6127535-T-C c.5049A>G p.A1683= Synonymous 28/52 - 1
12-6127535-T-A c.5049A>T p.A1683= Synonymous 28/52 - 1
12-6127537-C-G c.5047G>C p.A1683P Missense 28/52 - 1
12-6127549-T-C c.5035A>G p.T1679A Missense 28/52 - 1
12-6127555-T-C c.5029A>G p.I1677V Missense 28/52 - 1
12-6127561-G-A c.5023C>T p.L1675= Synonymous 28/52 - 1
12-6127565-C-G c.5019G>C p.E1673D Missense 28/52 - 1
12-6127570-C-T c.5014G>A p.G1672R Missense 28/52 - 3
12-6127570-C-G c.5014G>C p.G1672R Missense 28/52 - 1
12-6127576-A-C c.5008T>G p.C1670G Missense 28/52 - 1
12-6127576-A-T c.5008T>A p.C1670S Missense 28/52 - 2
12-6127575-C-G c.5009G>C p.C1670S Missense 28/52 - 2
12-6127578-CA-GC c.5005_5006delinsGC p.C1669A Missense 28/52 - 2
12-6127579-A-C c.5005T>G p.C1669G Missense 28/52 - 3
12-6127580-CCT-GTC c.5002_5004delinsGAC p.R1668D Missense 28/52 - 1
12-6127581-CT-GC c.5002_5003delinsGC p.R1668A Missense 28/52 - 2
12-6127583-C-G c.5001G>C p.Q1667H Missense 28/52 - 1
12-6127587-A-T c.4997T>A p.L1666Q Missense 28/52 - 1
12-6127590-A-T c.4994T>A p.V1665E Missense 28/52 - 2
12-6127593-AG-GT c.4990_4991delinsAC p.L1664T Missense 28/52 - 1
12-6127596-T-G c.4988A>C p.D1663A Missense 28/52 - 2
12-6127600-G-C c.4984C>G p.P1662A Missense 28/52 - 1
12-6127602-G-C c.4982C>G p.A1661G Missense 28/52 - 1
12-6127605-T-G c.4979A>C p.E1660A Missense 28/52 - 2
12-6127608-CG-GC c.4975_4976delinsGC p.R1659A Missense 28/52 - 2
12-6127609-G-A c.4975C>T p.R1659* Nonsense 28/52 - 11
12-6127614-A-T c.4970T>A p.L1657H Missense 28/52 - 1
12-6127615-G-T c.4969C>A p.L1657I Missense 28/52 - 2
12-6127617-G-A c.4967C>T p.T1656M Missense 28/52 - 3
12-6127620-T-G c.4964A>C p.E1655A Missense 28/52 - 2
12-6127626-T-G c.4958A>C p.D1653A Missense 28/52 - 2
12-6127626-T-A c.4958A>T p.D1653V Missense 28/52 - 1
12-6127632-AT-GC c.4951_4952delinsGC p.I1651A Missense 28/52 - 1
12-6127632-A-C c.4952T>G p.I1651S Missense 28/52 - 1
12-6127634-GA-TT c.4949_4950delinsAA p.L1650Q Missense 28/52 - 2
12-6127638-A-C c.4946T>G p.I1649S Missense 28/52 - 1
12-6127640-TA-T c.4944del p.I1649Sfs*44 Frameshift 28/52 - 1
12-6127640-A-T c.4944T>A p.P1648= Synonymous 28/52 - 1
12-6127640-A-C c.4944T>G p.P1648= Synonymous 28/52 - 1
12-6127640-A-G c.4944T>C p.P1648= Synonymous 28/52 - 1
12-6127642-G-A c.4942C>T p.P1648S Missense 28/52 - 1
12-6127645-C-A c.4939G>T p.A1647S Missense 28/52 - 2
12-6127647-T-C c.4937A>G p.N1646S Missense 28/52 - 2
12-6127658-AAT-TTG c.4924_4926delinsCAA p.I1642Q Missense 28/52 - 2
12-6127659-A-C c.4925T>G p.I1642S Missense 28/52 - 1
12-6127662-C-T c.4922G>A p.R1641K Missense 28/52 - 1
12-6127668-A-G c.4916T>C p.L1639P Missense 28/52 - 1
12-6127672-C-T c.4912G>A p.E1638K Missense 28/52 - 6
12-6127692-C-T c.4892G>A p.G1631D Missense 28/52 - 4
12-6127698-C-T c.4886G>A p.G1629E Missense 28/52 - 4
12-6127699-C-T c.4885G>A p.G1629R Missense 28/52 - 2
12-6127699-C-G c.4885G>C p.G1629R Missense 28/52 - 2
12-6127700-AA-CT c.4883_4884delinsAG p.I1628K Missense 28/52 - 1
12-6127701-A-G c.4883T>C p.I1628T Missense 28/52 - 8
12-6127718-G-A c.4866C>T p.D1622= Synonymous 28/52 - 1
12-6127719-TC-GT c.4864_4865delinsAC p.D1622T Missense 28/52 - 1
12-6127726-G-A c.4858C>T p.P1620S Missense 28/52 - 1
12-6127734-T-C c.4850A>G p.K1617R Missense 28/52 - 2
12-6127735-T-C c.4849A>G p.K1617E Missense 28/52 - 1
12-6127742-A-C c.4842T>G p.D1614E Missense 28/52 - 1
12-6127743-T-C c.4841A>G p.D1614G Missense 28/52 - 3
12-6127743-T-G c.4841A>C p.D1614A Missense 28/52 - 2
12-6127744-C-T c.4840G>A p.D1614N Missense 28/52 - 1
12-6127747-A-C c.4837T>G p.S1613A Missense 28/52 - 1
12-6127755-TT-CA c.4828_4829delinsTG p.N1610C Missense 28/52 - 2
12-6127759-C-T c.4825G>A p.G1609R Missense 28/52 - 8
12-6127759-C-G c.4825G>C p.G1609R Missense 28/52 - 6
12-6127763-G-T c.4821C>A p.V1607= Synonymous 28/52 - 1
12-6127763-G-C c.4821C>G p.V1607= Synonymous 28/52 - 1
12-6127763-G-A c.4821C>T p.V1607= Synonymous 28/52 - 1
12-6127764-A-T c.4820T>A p.V1607D Missense 28/52 - 4
12-6127767-AT-GC c.4816_4817delinsGC p.M1606A Missense 28/52 - 4
12-6127768-T-G c.4816A>C p.M1606L Missense 28/52 - 2
12-6127768-T-A c.4816A>T p.M1606L Missense 28/52 - 2
12-6127769-GTA-CAT c.4813_4815delinsATG p.Y1605M Missense 28/52 - 1
12-6127769-GTA-CTT c.4813_4815delinsAAG p.Y1605K Missense 28/52 - 1
12-6127769-GT-CC c.4814_4815delinsGG p.Y1605W Missense 28/52 - 1
12-6127770-TA-GC c.4813_4814delinsGC p.Y1605A Missense 28/52 - 5
12-6127770-T-G c.4814A>C p.Y1605S Missense 28/52 - 1
12-6127770-T-A c.4814A>T p.Y1605F Missense 28/52 - 1
12-6127773-A-G c.4811T>C p.V1604A Missense 28/52 - 1
12-6127773-AC-CT c.4810_4811delinsAG p.V1604S Missense 28/52 - 1
12-6127774-C-A c.4810G>T p.V1604F Missense 28/52 - 2
12-6127775-CAG-GTT c.4807_4809delinsAAC p.L1603N Missense 28/52 - 2
12-6127776-AG-GC c.4807_4808delinsGC p.L1603A Missense 28/52 - 2
12-6127776-AG-GA c.4807_4808delinsTC p.L1603S Missense 28/52 - 1
12-6127776-AG-TT c.4807_4808delinsAA p.L1603K Missense 28/52 - 1
12-6127777-G-T c.4807C>A p.L1603M Missense 28/52 - 1
12-6127779-TT-GC c.4804_4805delinsGC p.N1602A Missense 28/52 - 7
12-6127783-G-C c.4801C>G p.P1601A Missense 28/52 - 1
12-6127794-C-T c.4790G>A p.R1597Q Missense 28/52 - 4
12-6127795-G-A c.4789C>T p.R1597W Missense 28/52 - 31
12-6127797-T-G c.4787A>C p.D1596A Missense 28/52 - 4
12-6127823-GTC-CTT c.4759_4761delinsAAG p.D1587K Missense 28/52 - 1
12-6127833-T-C c.4751A>G p.Y1584C Missense 28/52 - 32
12-6127837-G-A c.4747C>T p.R1583W Missense 28/52 - 2
12-6127845-A-G c.4739T>C p.L1580P Missense 28/52 - 1
12-6127846-G-C c.4738C>G p.L1580V Missense 28/52 - 1
12-6127849-C-T c.4735G>A p.G1579R Missense 28/52 - 2
12-6127849-C-G c.4735G>C p.G1579R Missense 28/52 - 2
12-6127852-T-C c.4732A>G p.T1578A Missense 28/52 - 1
12-6127860-CT-AC c.4723_4724delinsGT p.R1575V Missense 28/52 - 1
12-6127862-GTT-TTG c.4720_4722delinsCAA p.N1574Q Missense 28/52 - 2
12-6127867-C-T c.4717G>A p.G1573S Missense 28/52 - 1
12-6127881-A-T c.4703T>A p.I1568N Missense 28/52 - 2
12-6127884-T-G c.4700A>C p.E1567A Missense 28/52 - 1
12-6127888-G-A c.4696C>T p.R1566* Nonsense 28/52 - 4
12-6127890-A-G c.4694T>C p.V1565A Missense 28/52 - 1
12-6127891-C-G c.4693G>C p.V1565L Missense 28/52 - 2
12-6127891-C-A c.4693G>T p.V1565L Missense 28/52 - 5
12-6127899-A-G c.4685T>C p.L1562P Missense 28/52 - 3
12-6127917-T-C c.4667A>G p.Q1556R Missense 28/52 - 1
12-6127919-T-G c.4665A>C p.A1555= Synonymous 28/52 - 1
12-6127920-G-C c.4664C>G p.A1555G Missense 28/52 - 1
12-6127924-C-T c.4660G>A p.E1554K Missense 28/52 - 1
12-6127939-C-T c.4645G>A p.E1549K Missense 28/52 - 1
12-6127941-AC-GA c.4642_4643delinsTC p.V1548S Missense 28/52 - 1
12-6127943-A-G c.4641T>C p.T1547= Synonymous 28/52 - 2
12-6127943-A-T c.4641T>A p.T1547= Synonymous 28/52 - 1
12-6127947-AC-TA c.4636_4637delinsTA p.V1546* Nonsense 28/52 - 1
12-6127953-TA-GC c.4630_4631delinsGC p.Y1544A Missense 28/52 - 1
12-6127953-TA-CG c.4630_4631delinsCG p.Y1544R Missense 28/52 - 1
12-6127954-A-C c.4630T>G p.Y1544D Missense 28/52 - 1
12-6127956-G-A c.4628C>T p.S1543F Missense 28/52 - 2
12-6127958-AGTACTG-A c.4621_4626del p.Q1541_Y1542del InFrameDeletion 28/52 - 1
12-6127960-TAC-T c.4623_4624del p.Y1542Lfs*45 Frameshift 28/52 - 1
12-6127965-A-G c.4619T>C p.L1540P Missense 28/52 - 3
12-6127999-C-G c.4585G>C p.D1529H Missense 28/52 - 1
12-6128002-T-C c.4582A>G p.M1528V Missense 28/52 - 5
12-6128004-C-T c.4580G>A p.R1527Q Missense 28/52 - 1
12-6128006-C-A c.4578G>T p.Q1526H Missense 28/52 - 1
12-6128025-AA-GC c.4558_4559delinsGC p.F1520A Missense 28/52 - 1
12-6128026-ACTC-A c.4555_4557del p.E1519del InFrameDeletion 28/52 - 1
12-6128034-CT-GC c.4549_4550delinsGC p.S1517A Missense 28/52 - 1
12-6128039-GTT-TTG c.4543_4545delinsCAA p.N1515Q Missense 28/52 - 1
12-6128041-T-C c.4543A>G p.N1515D Missense 28/52 - 1
12-6128043-A-C c.4541T>G p.F1514C Missense 28/52 - 1
12-6128047-C-T c.4537G>A p.D1513N Missense 28/52 - 1
12-6128059-T-C c.4525A>G p.I1509V Missense 28/52 - 1
12-6128067-G-A c.4517C>T p.S1506L Missense 28/52 - 18
12-6128070-C-T c.4514G>A p.G1505E Missense 28/52 - 3
12-6128071-C-T c.4513G>A p.G1505R Missense 28/52 - 4
12-6128071-C-G c.4513G>C p.G1505R Missense 28/52 - 4
12-6128076-A-G c.4508T>C p.L1503P Missense 28/52 - 3
12-6128076-A-C c.4508T>G p.L1503R Missense 28/52 - 2
12-6128076-A-T c.4508T>A p.L1503Q Missense 28/52 - 1
12-6128080-C-T c.4504G>A p.V1502I Missense 28/52 - 1
12-6128082-A-G c.4502T>C p.F1501S Missense 28/52 - 1
12-6128085-G-A c.4499C>T p.A1500V Missense 28/52 - 1
12-6128088-A-T c.4496T>A p.V1499E Missense 28/52 - 1
12-6128090-ATC-CAT c.4492_4494delinsATG p.D1498M Missense 28/52 - 1
12-6128091-T-G c.4493A>C p.D1498A Missense 28/52 - 3
12-6128106-TT-CA c.4477_4478delinsTG p.N1493C Missense 28/52 - 5
12-6128113-T-C c.4471A>G p.K1491E Missense 28/52 - 1
12-6128115-G-C c.4469C>G p.P1490R Missense 28/52 - 1
12-6128121-A-AT c.4462_4463insA p.L1488Hfs*24 Frameshift 28/52 - 1
12-6128124-G-GCCCCTGAGAACAAGGCCT c.4459_4460insAGGCCTTGTTCTCAGGGG p.T1487delinsKALFSGA MultiAAMissense 28/52 - 1
12-6128125-T-C c.4459A>G p.T1487A Missense 28/52 - 2
12-6128126-C-T c.4458G>A p.S1486= Synonymous 28/52 - 1
12-6128126-CGA-GTT c.4456_4458delinsAAC p.S1486N Missense 28/52 - 1
12-6128127-G-A c.4457C>T p.S1486L Missense 28/52 - 6
12-6128128-A-C c.4456T>G p.S1486A Missense 28/52 - 2
12-6128131-C-G c.4453G>C p.V1485L Missense 28/52 - 1
12-6128132-C-T c.4452G>A p.G1484= Synonymous 28/52 - 1
12-6128141-C-A c.4443G>T p.G1481= Synonymous 28/52 - 2
12-6128155-T-C c.4429A>G p.T1477A Missense 28/52 - 2
12-6128162-T-C c.4422A>G p.A1474= Synonymous 28/52 - 1
12-6128167-T-C c.4417A>G p.M1473V Missense 28/52 - 1
12-6128168-GTC-TTG c.4414_4416delinsCAA p.D1472Q Missense 28/52 - 1
12-6128169-TC-AG c.4414_4415delinsCT p.D1472L Missense 28/52 - 1
12-6128170-C-G c.4414G>C p.D1472H Missense 28/52 - 46
12-6128170-TC-T c.4414del p.D1472Tfs*53 Frameshift 28/52 - 2
12-6128170-C-A c.4414G>T p.D1472Y Missense 28/52 - 1
12-6128170-C-T c.4414G>A p.D1472N Missense 28/52 - 1
12-6128175-G-C c.4409C>G p.P1470R Missense 28/52 - 1
12-6128170-CG-C c.4413del p.D1472Tfs*53 Frameshift 28/52 - 1
12-6128170-C-CG c.4413dup p.D1472Rfs*40 Frameshift 28/52 - 1
12-6128179-G-T c.4405C>A p.L1469M Missense 28/52 - 1
12-6128181-G-A c.4403C>T p.T1468I Missense 28/52 - 1
12-6128182-T-C c.4402A>G p.T1468A Missense 28/52 - 2
12-6128185-G-A c.4399C>T p.P1467S Missense 28/52 - 9
12-6128188-G-C c.4396C>G p.P1466A Missense 28/52 - 1
12-6128190-G-A c.4394C>T p.P1465L Missense 28/52 - 1
12-6128193-G-A c.4391C>T p.A1464V Missense 28/52 - 1
12-6128202-G-T c.4382C>A p.A1461D Missense 28/52 - 2
12-6128203-C-G c.4381G>C p.A1461P Missense 28/52 - 1
12-6128206-G-A c.4378C>T p.L1460F Missense 28/52 - 1
12-6128206-G-C c.4378C>G p.L1460V Missense 28/52 - 1
12-6128211-C-T c.4373G>A p.C1458Y Missense 28/52 - 3
12-6128212-A-C c.4372T>G p.C1458G Missense 28/52 - 1
12-6128212-A-G c.4372T>C p.C1458R Missense 28/52 - 1
12-6128216-G-C c.4368C>G p.Y1456* Nonsense 28/52 - 1
12-6128226-A-T c.4358T>A p.I1453N Missense 28/52 - 1
12-6128232-T-C c.4352A>G p.D1451G Missense 28/52 - 1
12-6128235-CT-TC c.4348_4349delinsGA p.R1450E Missense 28/52 - 11
12-6128247-A-G c.4337T>C p.L1446P Missense 28/52 - 1
12-6128249-GCTCATCCAC-G c.4327_4335del p.V1443_E1445del InFrameDeletion 28/52 - 1
12-6128267-C-T c.4317G>A p.V1439= Synonymous 28/52 - 1
12-6128267-C-G c.4317G>C p.V1439= Synonymous 28/52 - 1
12-6128267-C-A c.4317G>T p.V1439= Synonymous 28/52 - 1
12-6128268-A-G c.4316T>C p.V1439A Missense 28/52 - 1
12-6128269-C-G c.4315G>C p.V1439L Missense 28/52 - 1
12-6128269-C-A c.4315G>T p.V1439L Missense 28/52 - 1
12-6128269-C-T c.4315G>A p.V1439M Missense 28/52 - 3
12-6128275-C-T c.4309G>A p.A1437T Missense 28/52 - 3
12-6128280-T-C c.4304A>G p.N1435S Missense 28/52 - 3
12-6128294-C-G c.4290G>C p.K1430N Missense 28/52 - 1
12-6128294-C-A c.4290G>T p.K1430N Missense 28/52 - 1
12-6128295-TT-GC c.4288_4289delinsGC p.K1430A Missense 28/52 - 3
12-6128299-C-T c.4285G>A p.E1429K Missense 28/52 - 1
12-6128307-CG-GC c.4276_4277delinsGC p.R1426A Missense 28/52 - 2
12-6128308-G-A c.4276C>T p.R1426C Missense 28/52 - 2
12-6128311-T-A c.4273A>T p.I1425F Missense 28/52 - 7
12-6128316-TT-GC c.4267_4268delinsGC p.K1423A Missense 28/52 - 3
12-6128321-G-C c.4263C>G p.N1421K Missense 28/52 - 1
12-6128321-G-T c.4263C>A p.N1421K Missense 28/52 - 1
12-6128328-TG-GC c.4255_4256delinsGC p.H1419A Missense 28/52 - 1
12-6128337-A-G c.4247T>C p.I1416T Missense 28/52 - 1
12-6128337-A-T c.4247T>A p.I1416N Missense 28/52 - 1
12-6128340-C-T c.4244G>A p.G1415D Missense 28/52 - 2
12-6128343-A-C c.4241T>G p.V1414G Missense 28/52 - 1
12-6128346-G-A c.4238C>T p.P1413L Missense 28/52 - 3
12-6128355-A-G c.4229T>C p.I1410T Missense 28/52 - 1
12-6128358-AC-GT c.4225_4226inv p.V1409T Missense 28/52 - 1
12-6128359-C-A c.4225G>T p.V1409F Missense 28/52 - 2
12-6128361-TT-GC c.4222_4223delinsGC p.K1408A Missense 28/52 - 1
12-6128367-TT-GC c.4216_4217delinsGC p.K1406A Missense 28/52 - 2
12-6128367-T-C c.4217A>G p.K1406R Missense 28/52 - 1
12-6128378-C-T c.4206G>A p.Q1402= Synonymous 28/52 - 1
12-6128378-CCTGGACGTAGCGGACAAAGTTCCGGGACATCCG-C c.4174_4206del p.R1392_Q1402del InFrameDeletion 28/52 - 1
12-6128379-T-G c.4205A>C p.Q1402P Missense 28/52 - 5
12-6128383-C-T c.4201G>A p.V1401I Missense 28/52 - 1
12-6128387-GCG-CTC c.4195_4197delinsGAG p.R1399E Missense 28/52 - 1
12-6128388-C-T c.4196G>A p.R1399H Missense 28/52 - 17
12-6128388-CG-GC c.4195_4196delinsGC p.R1399A Missense 28/52 - 6
12-6128389-G-A c.4195C>T p.R1399C Missense 28/52 - 2
12-6128392-C-T c.4192G>A p.V1398I Missense 28/52 - 1
12-6128400-CG-GC c.4183_4184delinsGC p.R1395A Missense 28/52 - 6
12-6128401-G-A c.4183C>T p.R1395W Missense 28/52 - 2
12-6128403-G-A c.4181C>T p.S1394F Missense 28/52 - 1
12-6128407-T-G c.4177A>C p.M1393L Missense 28/52 - 1
12-6128407-T-A c.4177A>T p.M1393L Missense 28/52 - 1
12-6128409-CG-GC c.4174_4175delinsGC p.R1392A Missense 28/52 - 6
12-6128409-CG-TC c.4174_4175delinsGA p.R1392E Missense 28/52 - 1
12-6128419-C-G c.4165G>C p.E1389Q Missense 28/52 - 2
12-6128419-C-T c.4165G>A p.E1389K Missense 28/52 - 1
12-6128421-T-C c.4163A>G p.Q1388R Missense 28/52 - 1
12-6128424-C-A c.4160G>T p.S1387I Missense 28/52 - 4
12-6128438-C-T c.4146G>A p.L1382= Synonymous 28/52 - 1
12-6128438-C-A c.4146G>T p.L1382= Synonymous 28/52 - 1
12-6128439-A-G c.4145T>C p.L1382P Missense 28/52 - 2
12-6128443-T-C c.4141A>G p.T1381A Missense 28/52 - 11
12-6128443-T-A c.4141A>T p.T1381S Missense 28/52 - 5
12-6128444-G-A c.4140C>T p.I1380= Synonymous 28/52 - 1
12-6128446-T-C c.4138A>G p.I1380V Missense 28/52 - 7
12-6128448-C-A c.4136G>T p.R1379L Missense 28/52 - 1
12-6128449-G-A c.4135C>T p.R1379C Missense 28/52 - 10
12-6128451-G-A c.4133C>T p.S1378F Missense 28/52 - 3
12-6128452-A-G c.4132T>C p.S1378P Missense 28/52 - 1
12-6128454-G-A c.4130C>T p.A1377V Missense 28/52 - 3
12-6128457-T-G c.4127A>C p.E1376A Missense 28/52 - 2
12-6128463-CG-GC c.4120_4121delinsGC p.R1374A Missense 28/52 - 1
12-6128463-C-T c.4121G>A p.R1374H Missense 28/52 - 12
12-6128463-C-A c.4121G>T p.R1374L Missense 28/52 - 2
12-6128464-G-A c.4120C>T p.R1374C Missense 28/52 - 19
12-6128469-A-C c.4115T>G p.I1372S Missense 28/52 - 4
12-6128471-CTT-GTC c.4111_4113delinsGAC p.K1371D Missense 28/52 - 1
12-6128472-TT-GC c.4111_4112delinsGC p.K1371A Missense 28/52 - 2
12-6128479-A-T c.4105T>A p.F1369I Missense 28/52 - 9
12-6128483-T-C c.4101A>G p.Q1367= Synonymous 28/52 - 1
12-6128487-AA-GC c.4096_4097delinsGC p.F1366A Missense 28/52 - 2
12-6128490-A-G c.4094T>C p.L1365P Missense 28/52 - 2
12-6128499-TT-GC c.4084_4085delinsGC p.K1362A Missense 28/52 - 3
12-6128499-T-G c.4085A>C p.K1362T Missense 28/52 - 1
12-6128504-G-A c.4080C>T p.V1360= Synonymous 28/52 - 1
12-6128505-A-G c.4079T>C p.V1360A Missense 28/52 - 3
12-6128506-C-T c.4078G>A p.V1360I Missense 28/52 - 1
12-6128509-C-T c.4075G>A p.E1359K Missense 28/52 - 3
12-6128511-C-T c.4073G>A p.S1358N Missense 28/52 - 2
12-6128527-G-C c.4057C>G p.Q1353E Missense 28/52 - 1
12-6128538-T-C c.4046A>G p.Y1349C Missense 28/52 - 3
12-6128541-TT-GC c.4042_4043delinsGC p.K1348A Missense 28/52 - 3
12-6128557-T-C c.4027A>G p.I1343V Missense 28/52 - 5
12-6128560-G-A c.4024C>T p.R1342C Missense 28/52 - 2
12-6128561-CCG-GTC c.4021_4023delinsGAC p.R1341D Missense 28/52 - 1
12-6128562-C-T c.4022G>A p.R1341Q Missense 28/52 - 14
12-6128562-C-G c.4022G>C p.R1341P Missense 28/52 - 1
12-6128563-G-A c.4021C>T p.R1341W Missense 28/52 - 3
12-6128571-G-T c.4013C>A p.S1338* Nonsense 28/52 - 1
12-6128571-G-C c.4013C>G p.S1338* Nonsense 28/52 - 1
12-6128573-C-T c.4011G>A p.P1337= Synonymous 28/52 - 1
12-6128574-G-A c.4010C>T p.P1337L Missense 28/52 - 9
12-6128576-TCG-GTC c.4006_4008delinsGAC p.R1336D Missense 28/52 - 1
12-6128577-C-T c.4007G>A p.R1336Q Missense 28/52 - 3
12-6128577-CG-GC c.4006_4007delinsGC p.R1336A Missense 28/52 - 2
12-6128578-G-A c.4006C>T p.R1336* Nonsense 28/52 - 1
12-6128582-CCG-GTC c.4000_4002delinsGAC p.R1334D Missense 28/52 - 1
12-6128583-CG-GC c.4000_4001delinsGC p.R1334A Missense 28/52 - 2
12-6128583-C-T c.4001G>A p.R1334Q Missense 28/52 - 1
12-6128586-T-G c.3998A>C p.D1333A Missense 28/52 - 1
12-6128589-T-C c.3995A>G p.K1332R Missense 28/52 - 2
12-6128589-TT-GC c.3994_3995delinsGC p.K1332A Missense 28/52 - 2
12-6128595-C-G c.3989G>C p.G1330A Missense 28/52 - 1
12-6128613-C-G c.3971G>C p.G1324A Missense 28/52 - 5
12-6128614-C-T c.3970G>A p.G1324S Missense 28/52 - 15
12-6128623-A-C c.3961T>G p.Y1321D Missense 28/52 - 1
12-6128632-C-T c.3952G>A p.V1318M Missense 28/52 - 2
12-6128632-C-A c.3952G>T p.V1318L Missense 28/52 - 1
12-6128633-G-A c.3951C>T p.A1317= Synonymous 28/52 - 2
12-6128638-C-T c.3946G>A p.V1316M Missense 28/52 - 42
12-6128640-CG-GC c.3943_3944delinsGC p.R1315A Missense 28/52 - 1
12-6128641-G-A c.3943C>T p.R1315C Missense 28/52 - 16
12-6128642-GAC-CAT c.3940_3942delinsATG p.V1314M Missense 28/52 - 1
12-6128643-A-T c.3941T>A p.V1314D Missense 28/52 - 4
12-6128643-A-G c.3941T>C p.V1314A Missense 28/52 - 1
12-6128644-C-A c.3940G>T p.V1314F Missense 28/52 - 2
12-6128645-C-A c.3939G>T p.W1313C Missense 28/52 - 2
12-6128645-C-G c.3939G>C p.W1313C Missense 28/52 - 2
12-6128645-C-T c.3939G>A p.W1313* Nonsense 28/52 - 3
12-6128646-CA-GG c.3937_3938delinsCC p.W1313P Missense 28/52 - 1
12-6128648-CTT-GTC c.3934_3936delinsGAC p.K1312D Missense 28/52 - 1
12-6128648-C-T c.3936G>A p.K1312= Synonymous 28/52 - 1
12-6128649-TT-GC c.3934_3935delinsGC p.K1312A Missense 28/52 - 2
12-6128653-G-A c.3931C>T p.Q1311* Nonsense 28/52 - 6
12-6128655-G-A c.3929C>T p.S1310F Missense 28/52 - 4
12-6128658-A-G c.3926T>C p.I1309T Missense 28/52 - 1
12-6128659-T-C c.3925A>G p.I1309V Missense 28/52 - 14
12-6128659-T-A c.3925A>T p.I1309F Missense 28/52 - 1
12-6128661-C-A c.3923G>T p.R1308L Missense 28/52 - 6
12-6128661-C-T c.3923G>A p.R1308H Missense 28/52 - 3
12-6128661-CG-GC c.3922_3923delinsGC p.R1308A Missense 28/52 - 1
12-6128661-CG-TC c.3922_3923delinsGA p.R1308D Missense 28/52 - 1
12-6128661-C-G c.3923G>C p.R1308P Missense 28/52 - 5
12-6128662-G-A c.3922C>T p.R1308C Missense 28/52 - 17
12-6128664-A-G c.3920T>C p.L1307P Missense 28/52 - 1
12-6128666-CCG-ACA c.3916_3918delinsTGT p.R1306C Missense 28/52 - 1
12-6128667-C-G c.3917G>C p.R1306P Missense 28/52 - 1
12-6128667-C-T c.3917G>A p.R1306Q Missense 28/52 - 14
12-6128667-C-A c.3917G>T p.R1306L Missense 28/52 - 1
12-6128668-G-A c.3916C>T p.R1306W Missense 28/52 - 21
12-6128673-A-C c.3911T>G p.M1304R Missense 28/52 - 5
12-6128674-T-C c.3910A>G p.M1304V Missense 28/52 - 1
12-6128679-T-C c.3905A>G p.D1302G Missense 28/52 - 1
12-6128691-GC-CA c.3892_3893delinsTG p.A1298C Missense 28/52 - 3
12-6128694-TT-GC c.3889_3890delinsGC p.K1297A Missense 28/52 - 1
12-6128697-A-G c.3887T>C p.L1296P Missense 28/52 - 1
12-6128708-C-G c.3876G>C p.E1292D Missense 28/52 - 1
12-6128708-C-A c.3876G>T p.E1292D Missense 28/52 - 1
12-6128715-T-G c.3869A>C p.E1290A Missense 28/52 - 1
12-6128716-C-T c.3868G>A p.E1290K Missense 28/52 - 1
12-6128722-G-C c.3862C>G p.L1288V Missense 28/52 - 1
12-6128724-CT-GC c.3859_3860delinsGC p.R1287A Missense 28/52 - 2
12-6128725-T-C c.3859A>G p.R1287G Missense 28/52 - 2
12-6128730-G-A c.3854C>T p.S1285F Missense 28/52 - 3
12-6128736-T-G c.3848A>C p.D1283A Missense 28/52 - 1
12-6128737-C-A c.3847G>T p.D1283Y Missense 28/52 - 1
12-6128748-A-G c.3836T>C p.V1279A Missense 28/52 - 1
12-6128749-C-T c.3835G>A p.V1279I Missense 28/52 - 6
12-6128753-G-C c.3831C>G p.D1277E Missense 28/52 - 1
12-6128753-G-T c.3831C>A p.D1277E Missense 28/52 - 1
12-6128754-T-G c.3830A>C p.D1277A Missense 28/52 - 1
12-6128755-C-G c.3829G>C p.D1277H Missense 28/52 - 1
12-6128755-C-A c.3829G>T p.D1277Y Missense 28/52 - 2
12-6128757-A-C c.3827T>G p.L1276R Missense 28/52 - 1
12-6128764-T-C c.3820A>G p.R1274G Missense 28/52 - 1
12-6128768-G-C c.3816C>G p.C1272W Missense 28/52 - 2
12-6128769-C-A c.3815G>T p.C1272F Missense 28/52 - 2
12-6128769-CA-TC c.3814_3815delinsGA p.C1272D Missense 28/52 - 1
12-6128769-C-T c.3815G>A p.C1272Y Missense 28/52 - 2
12-6128770-A-T c.3814T>A p.C1272S Missense 28/52 - 4
12-6128769-C-G c.3815G>C p.C1272S Missense 28/52 - 4
12-6128770-A-C c.3814T>G p.C1272G Missense 28/52 - 4
12-6128770-A-G c.3814T>C p.C1272R Missense 28/52 - 7
12-6128770-CA-C c.3814del p.C1272Afs*25 Frameshift 28/52 - 1
12-6128772-T-C c.3812A>G p.Y1271C Missense 28/52 - 2
12-6128772-T-A c.3812A>T p.Y1271F Missense 28/52 - 1
12-6128772-T-G c.3812A>C p.Y1271S Missense 28/52 - 1
12-6128775-A-G c.3809T>C p.F1270S Missense 28/52 - 1
12-6128777-A-T c.3807T>A p.D1269E Missense 28/52 - 1
12-6128778-T-A c.3806A>T p.D1269V Missense 28/52 - 1
12-6128778-T-TA c.3805_3806insT p.D1269Vfs*24 Frameshift 28/52 - 1
12-6128779-C-T c.3805G>A p.D1269N Missense 28/52 - 1
12-6128782-G-C c.3802C>G p.H1268D Missense 28/52 - 5
12-6128782-G-T c.3802C>A p.H1268N Missense 28/52 - 1
12-6128784-A-G c.3800T>C p.L1267S Missense 28/52 - 1
12-6128787-G-T c.3797C>A p.P1266Q Missense 28/52 - 9
12-6128787-G-A c.3797C>T p.P1266L Missense 28/52 - 19
12-6128787-GG-TC c.3796_3797delinsGA p.P1266E Missense 28/52 - 1
12-6128789-C-T c.3795G>A p.P1265= Synonymous 28/52 - 1
12-6128795-C-T c.3789G>A p.S1263= Synonymous 28/52 - 3
12-6128795-C-A c.3789G>T p.S1263= Synonymous 28/52 - 1
12-6128795-C-G c.3789G>C p.S1263= Synonymous 28/52 - 1
12-6128797-A-G c.3787T>C p.S1263P Missense 28/52 - 1
12-6128797-A-C c.3787T>G p.S1263A Missense 28/52 - 1
12-6128799-A-G c.3785T>C p.I1262T Missense 28/52 - 1
12-6128801-GTC-TTG c.3781_3783delinsCAA p.D1261Q Missense 28/52 - 1
12-6128801-G-C c.3783C>G p.D1261E Missense 28/52 - 1
12-6128801-G-T c.3783C>A p.D1261E Missense 28/52 - 1
12-6128801-GTC-CTT c.3781_3783delinsAAG p.D1261K Missense 28/52 - 1
12-6128803-C-T c.3781G>A p.D1261N Missense 28/52 - 1
12-6128814-A-G c.3770T>C p.L1257P Missense 28/52 - 1
12-6128818-T-C c.3766A>G p.T1256A Missense 28/52 - 3
12-6128821-T-C c.3763A>G p.T1255A Missense 28/52 - 5
12-6128824-G-A c.3760C>T p.P1254S Missense 28/52 - 1
12-6128826-CT-GC c.3757_3758delinsGC p.S1253A Missense 28/52 - 1
12-6128835-G-C c.3749C>G p.A1250G Missense 28/52 - 1
12-6128837-A-C c.3747T>G p.D1249E Missense 28/52 - 1
12-6128837-A-T c.3747T>A p.D1249E Missense 28/52 - 1
12-6128842-T-C c.3742A>G p.T1248A Missense 28/52 - 3
12-6128849-C-T c.3735G>A p.V1245= Synonymous 28/52 - 1
12-6128849-C-G c.3735G>C p.V1245= Synonymous 28/52 - 1
12-6128849-C-A c.3735G>T p.V1245= Synonymous 28/52 - 1
12-6128853-A-T c.3731T>A p.V1244E Missense 28/52 - 1
12-6128865-G-A c.3719C>T p.P1240L Missense 28/52 - 1
12-6128871-T-C c.3713A>G p.Q1238R Missense 28/52 - 1
12-6128882-A-C c.3702T>G p.C1234W Missense 28/52 - 4
12-6128885-G-GACT c.3698_3699insAGT p.T1233_C1234insV InFrameInsertion 28/52 - 1
12-6128884-A-AGCTCTT c.3699_3700insAAGAGC p.T1233_C1234insKS InFrameInsertion 28/52 - 1
12-6128892-T-C c.3692A>G p.N1231S Missense 28/52 - 2
12-6128892-T-G c.3692A>C p.N1231T Missense 28/52 - 6
12-6128896-C-T c.3688G>A p.V1230I Missense 28/52 - 1
12-6128898-A-C c.3686T>G p.V1229G Missense 28/52 - 7
12-6128902-C-G c.3682G>C p.D1228H Missense 28/52 - 1
12-6128905-A-G c.3679T>C p.C1227R Missense 28/52 - 2
12-6128910-C-T c.3675-1G>A - IntronicSNV - 27/51 1
12-6128984-T-C c.3675-75A>G - IntronicSNV - 27/51 4
12-6131067-A-C c.3673T>G p.C1225G Missense 27/52 - 4
12-6131070-T-G c.3670A>C p.I1224L Missense 27/52 - 1
12-6131077-G-T c.3663C>A p.H1221Q Missense 27/52 - 1
12-6131077-G-C c.3663C>G p.H1221Q Missense 27/52 - 1
12-6131078-TG-GC c.3661_3662delinsGC p.H1221A Missense 27/52 - 1
12-6131121-C-T c.3619G>A p.A1207T Missense 27/52 - 1
12-6131126-C-T c.3614G>A p.R1205H Missense 27/52 - 45
12-6131126-C-A c.3614G>T p.R1205L Missense 27/52 - 1
12-6131127-G-A c.3613C>T p.R1205C Missense 27/52 - 2
12-6131127-G-T c.3613C>A p.R1205S Missense 27/52 - 1
12-6131161-A-G c.3579T>C p.P1193= Synonymous 27/52 - 1
12-6131171-C-T c.3569G>A p.C1190Y Missense 27/52 - 1
12-6131172-A-G c.3568T>C p.C1190R Missense 27/52 - 2
12-6131172-A-T c.3568T>A p.C1190S Missense 27/52 - 1
12-6131171-C-G c.3569G>C p.C1190S Missense 27/52 - 1
12-6131190-C-T c.3550G>A p.D1184N Missense 27/52 - 1
12-6131905-C-T c.3538+1G>A - IntronicSNV - 26/51 1
12-6131906-C-T c.3538G>A p.G1180R Missense 26/52 - 3
12-6131906-C-G c.3538G>C p.G1180R Missense 26/52 - 2
12-6131923-TG-GC c.3520_3521delinsGC p.H1174A Missense 26/52 - 1
12-6131926-C-A c.3518G>T p.C1173F Missense 26/52 - 1
12-6131950-C-A c.3494G>T p.C1165F Missense 26/52 - 1
12-6131959-G-A c.3485C>T p.P1162L Missense 26/52 - 3
12-6131964-CAGG-C c.3478_3480del p.P1160del InFrameDeletion 26/52 - 1
12-6131964-AG-A c.3479del p.P1160Lfs*55 Frameshift 26/52 - 1
12-6131968-TG-GC c.3475_3476delinsGC p.H1159A Missense 26/52 - 1
12-6131974-C-A c.3470G>T p.C1157F Missense 26/52 - 5
12-6131977-G-A c.3467C>T p.T1156M Missense 26/52 - 3
12-6131986-C-T c.3458G>A p.C1153Y Missense 26/52 - 1
12-6131999-A-G c.3445T>C p.C1149R Missense 26/52 - 13
12-6132006-A-C c.3438T>G p.Y1146* Nonsense 26/52 - 1
12-6132007-T-C c.3437A>G p.Y1146C Missense 26/52 - 4
12-6132014-A-C c.3430T>G p.W1144G Missense 26/52 - 8
12-6132016-TC-AT c.3427_3428delinsAT p.E1143M Missense 26/52 - 1
12-6132018-A-G c.3426T>C p.C1142= Synonymous 26/52 - 2
12-6132019-CA-GC c.3424_3425delinsGC p.C1142A Missense 26/52 - 5
12-6132037-CG-AT c.3406_3407delinsAT p.R1136M Missense 26/52 - 1
12-6132054-G-A c.3390C>T p.C1130= Synonymous 26/52 - 2
12-6132055-C-A c.3389G>T p.C1130F Missense 26/52 - 18
12-6132055-C-T c.3389G>A p.C1130Y Missense 26/52 - 3
12-6132056-A-C c.3388T>G p.C1130G Missense 26/52 - 4
12-6132056-A-G c.3388T>C p.C1130R Missense 26/52 - 2
12-6132057-GCT-G c.3385_3386del p.S1129Lfs*12 Frameshift 26/52 - 1
12-6132790-T-G c.3379+7A>C - IntronicSNV - 25/51 2
12-6132796-C-T c.3379+1G>A - IntronicSNV - 25/51 6
12-6132797-G-A c.3379C>T p.P1127S Missense 25/52 - 2
12-6132808-G-C c.3368C>G p.A1123G Missense 25/52 - 1
12-6132811-G-A c.3365C>T p.T1122M Missense 25/52 - 4
12-6132817-C-CG c.3358_3359insC p.W1120Sfs*22 Frameshift 25/52 - 1
12-6132826-A-C c.3350T>G p.V1117G Missense 25/52 - 1
12-6132848-C-T c.3328G>A p.V1110M Missense 25/52 - 1
12-6132869-TGTCGCAGAAGCAGGCGCAGTCC-GGA c.3285_3307delinsTCC p.D1096Pfs*39 Frameshift 25/52 - 1
12-6132873-G-T c.3303C>A p.C1101* Nonsense 25/52 - 1
12-6132875-A-G c.3301T>C p.C1101R Missense 25/52 - 1
12-6132879-G-C c.3297C>G p.C1099W Missense 25/52 - 1
12-6132880-CA-GC c.3295_3296delinsGC p.C1099A Missense 25/52 - 7
12-6132880-C-T c.3296G>A p.C1099Y Missense 25/52 - 5
12-6132880-CA-GG c.3295_3296delinsCC p.C1099P Missense 25/52 - 1
12-6132885-G-C c.3291C>G p.C1097W Missense 25/52 - 1
12-6132885-G-A c.3291C>T p.C1097= Synonymous 25/52 - 1
12-6132886-CA-GC c.3289_3290delinsGC p.C1097A Missense 25/52 - 1
12-6132890-C-G c.3286G>C p.D1096H Missense 25/52 - 1
12-6132894-AAT-CCA c.3280_3282delinsTGG p.I1094W Missense 25/52 - 1
12-6132895-A-G c.3281T>C p.I1094T Missense 25/52 - 2
12-6132901-TC-AT c.3274_3275delinsAT p.E1092M Missense 25/52 - 1
12-6132902-C-T c.3274G>A p.E1092K Missense 25/52 - 1
12-6132924-G-C c.3252C>G p.C1084W Missense 25/52 - 1
12-6132925-C-T c.3251G>A p.C1084Y Missense 25/52 - 1
12-6132936-A-G c.3240T>C p.Y1080= Synonymous 25/52 - 1
12-6132938-A-AAGGCTCAGGGTCTACTTGAAG c.3237_3238insCTTCAAGTAGACCCTGAGCCT p.P1079_Y1080insLQVDPEP InFrameInsertion 25/52 - 1
12-6132944-C-T c.3232G>A p.E1078K Missense 25/52 - 1
12-6132945-G-C c.3231C>G p.P1077= Synonymous 25/52 - 1
12-6133079-T-C c.3223-126A>G - IntronicSNV - 24/51 1
12-6134231-C-A c.3222+515G>T - IntronicSNV - 24/51 2
12-6134231-C-G c.3222+515G>C - IntronicSNV - 24/51 2
12-6134231-C-T c.3222+515G>A - IntronicSNV - 24/51 2
12-6134491-C-T c.3222+255G>A - IntronicSNV - 24/51 1
12-6134509-G-A c.3222+237C>T - IntronicSNV - 24/51 1
12-6134510-G-A c.3222+236C>T - IntronicSNV - 24/51 1
12-6134510-G-C c.3222+236C>G - IntronicSNV - 24/51 1
12-6134625-C-G c.3222+121G>C - IntronicSNV - 24/51 1
12-6134625-C-T c.3222+121G>A - IntronicSNV - 24/51 1
12-6134715-G-A c.3222+31C>T - IntronicSNV - 24/51 2
12-6134786-CT-TG c.3181_3182delinsCA p.R1061Q Missense 24/52 - 1
12-6134789-C-T c.3179G>A p.C1060Y Missense 24/52 - 3
12-6134789-CA-GC c.3178_3179delinsGC p.C1060A Missense 24/52 - 1
12-6134790-A-G c.3178T>C p.C1060R Missense 24/52 - 8
12-6134790-A-T c.3178T>A p.C1060S Missense 24/52 - 1
12-6134789-C-G c.3179G>C p.C1060S Missense 24/52 - 1
12-6134806-C-A c.3162G>T p.T1054= Synonymous 24/52 - 1
12-6134809-C-G c.3159G>C p.Q1053H Missense 24/52 - 6
12-6134809-C-A c.3159G>T p.Q1053H Missense 24/52 - 6
12-6134810-T-TG c.3157dup p.Q1053Pfs*9 Frameshift 24/52 - 1
12-6134829-G-A c.3139C>T p.H1047Y Missense 24/52 - 1
12-6134949-C-A c.3109-90G>T - IntronicSNV - 23/51 2
12-6134949-C-G c.3109-90G>C - IntronicSNV - 23/51 2
12-6134965-G-A c.3109-106C>T - IntronicSNV - 23/51 1
12-6134987-C-A c.3108+85G>T - IntronicSNV - 23/51 2
12-6134987-C-T c.3108+85G>A - IntronicSNV - 23/51 1
12-6135067-C-T c.3108+5G>A - IntronicSNV - 23/51 1
12-6135068-G-A c.3108+4C>T - IntronicSNV - 23/51 1
12-6135072-CTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGT-C c.3050_3108del p.D1017Gfs*12 InFrameDeletion 23/52 - 1
12-6135076-CTGG-C c.3101_3103del p.T1034del InFrameDeletion 23/52 - 3
12-6135091-T-C c.3089A>G p.Q1030R Missense 23/52 - 2
12-6135128-G-A c.3052C>T p.P1018S Missense 23/52 - 1
12-6135199-C-A c.2981G>T p.G994V Missense 23/52 - 1
12-6135265-C-T c.2968-53G>A - IntronicSNV - 22/51 1
12-6135337-G-A c.2968-125C>T - IntronicSNV - 22/51 1
12-6135495-A-T c.2968-283T>A - IntronicSNV - 22/51 1
12-6136153-T-C c.2968-941A>G - IntronicSNV - 22/51 1
12-6136634-G-A c.2968-1422C>T - IntronicSNV - 22/51 1
12-6136702-C-T c.2968-1490G>A - IntronicSNV - 22/51 1
12-6136784-G-A c.2968-1572C>T - IntronicSNV - 22/51 1
12-6136802-G-A c.2968-1590C>T - IntronicSNV - 22/51 1
12-6136914-A-G c.2967+1594T>C - IntronicSNV - 22/51 1
12-6136968-G-C c.2967+1540C>G - IntronicSNV - 22/51 1
12-6137456-A-C c.2967+1052T>G - IntronicSNV - 22/51 1
12-6138410-T-C c.2967+98A>G - IntronicSNV - 22/51 1
12-6138512-T-A c.2963A>T p.Y988F Missense 22/52 - 1
12-6138531-C-T c.2944G>A p.V982M Missense 22/52 - 1
12-6138539-C-T c.2936G>A p.S979N Missense 22/52 - 1
12-6138540-CTCAGGT-C c.2930_2935del p.H977_S979delinsR MultiAAMissense 22/52 - 1
12-6138549-G-A c.2926C>T p.R976C Missense 22/52 - 3
12-6138551-T-A c.2924A>T p.D975V Missense 22/52 - 1
12-6138553-C-A c.2922G>T p.W974C Missense 22/52 - 1
12-6138561-C-T c.2914G>A p.V972M Missense 22/52 - 1
12-6138564-AGAG-A c.2908_2910del p.L970del InFrameDeletion 22/52 - 1
12-6138566-AG-A c.2908del p.L970Sfs*9 Frameshift 22/52 - 1
12-6138575-C-T c.2900G>A p.G967D Missense 22/52 - 3
12-6138585-G-A c.2890C>T p.L964= Synonymous 22/52 - 1
12-6138595-C-T c.2880G>A p.R960= Synonymous 22/52 - 10
12-6138596-CG-TA c.2878_2879delinsTA p.R960* Nonsense 22/52 - 1
12-6138596-C-G c.2879G>C p.R960P Missense 22/52 - 2
12-6138597-G-A c.2878C>T p.R960W Missense 22/52 - 3
12-6138597-G-T c.2878C>A p.R960= Synonymous 22/52 - 1
12-6138595-C-G c.2880G>C p.R960= Synonymous 22/52 - 1
12-6138595-C-A c.2880G>T p.R960= Synonymous 22/52 - 1
12-6138627-C-T c.2848G>A p.E950K Missense 22/52 - 1
12-6138628-A-C c.2847T>G p.D949E Missense 22/52 - 1
12-6139261-A-C c.2821-607T>G - IntronicSNV - 21/51 3
12-6139692-C-A c.2820+918G>T - IntronicSNV - 21/51 1
12-6139692-C-T c.2820+918G>A - IntronicSNV - 21/51 1
12-6140615-C-T c.2815G>A p.G939R Missense 21/52 - 1
12-6140615-C-G c.2815G>C p.G939R Missense 21/52 - 1
12-6140659-C-T c.2771G>A p.R924Q Missense 21/52 - 21
12-6140660-G-T c.2770C>A p.R924= Synonymous 21/52 - 1
12-6140660-G-A c.2770C>T p.R924W Missense 21/52 - 1
12-6140667-G-T c.2763C>A p.C921* Nonsense 21/52 - 1
12-6140677-G-C c.2753C>G p.S918* Nonsense 21/52 - 1
12-6140691-T-G c.2739A>C p.G913= Synonymous 21/52 - 1
12-6140691-T-TA c.2738_2739insT p.C914Mfs*22 Frameshift 21/52 - 1
12-6140696-T-TA c.2733dup p.K912* Nonsense 21/52 - 1
12-6140713-C-T c.2717G>A p.R906Q Missense 21/52 - 1
12-6140727-G-A c.2703C>T p.N901= Synonymous 21/52 - 1
12-6140727-G-T c.2703C>A p.N901K Missense 21/52 - 1
12-6140735-C-G c.2695G>C p.G899R Missense 21/52 - 1
12-6140743-T-C c.2687A>G p.D896G Missense 21/52 - 1
12-6143854-C-A c.2685G>T p.Q895H Missense 20/52 - 1
12-6143854-C-G c.2685G>C p.Q895H Missense 20/52 - 2
12-6143856-TGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGG-T c.2625_2683del p.Y875* InFrameDeletion 20/52 - 1
12-6143866-G-A c.2673C>T p.Y891= Synonymous 20/52 - 1
12-6143874-A-G c.2665T>C p.C889R Missense 20/52 - 1
12-6143897-A-C c.2642T>G p.L881R Missense 20/52 - 1
12-6143898-AG-A c.2641del p.L881Sfs*28 Frameshift 20/52 - 1
12-6143904-C-T c.2635G>A p.D879N Missense 20/52 - 1
12-6143905-G-A c.2634C>T p.F878= Synonymous 20/52 - 1
12-6143913-G-A c.2626C>T p.L876F Missense 20/52 - 1
12-6143918-TG-GC c.2620_2621delinsGC p.H874A Missense 20/52 - 1
12-6143923-C-T c.2616G>A p.M872I Missense 20/52 - 1
12-6143927-C-T c.2612G>A p.G871D Missense 20/52 - 1
12-6143945-G-T c.2594C>A p.A865D Missense 20/52 - 1
12-6143953-C-A c.2586G>T p.V862= Synonymous 20/52 - 1
12-6143954-ACATGGTCTGTG-A c.2574_2584del p.T859Vfs*2 Frameshift 20/52 - 1
12-6143962-TG-GT c.2576_2577delinsAC p.T859N Missense 20/52 - 1
12-6143965-G-C c.2574C>G p.C858W Missense 20/52 - 2
12-6143966-C-A c.2573G>T p.C858F Missense 20/52 - 3
12-6143967-A-T c.2572T>A p.C858S Missense 20/52 - 2
12-6143966-C-G c.2573G>C p.C858S Missense 20/52 - 2
12-6143968-GTT-TTG c.2569_2571delinsCAA p.N857Q Missense 20/52 - 2
12-6143977-CC-AT c.2561_2562delinsAT p.R854H Missense 20/52 - 1
12-6143978-C-T c.2561G>A p.R854Q Missense 20/52 - 49
12-6143978-CG-TT c.2560_2561delinsAA p.R854K Missense 20/52 - 1
12-6143979-G-A c.2560C>T p.R854W Missense 20/52 - 5
12-6143979-G-C c.2560C>G p.R854G Missense 20/52 - 1
12-6143979-G-T c.2560C>A p.R854= Synonymous 20/52 - 1
12-6143984-T-C c.2555A>G p.Q852R Missense 20/52 - 16
12-6144138-G-A c.2547-146C>T - IntronicSNV - 19/51 1
12-6145551-C-G c.2546+3G>C - IntronicSNV - 19/51 1
12-6145565-G-T c.2535C>A p.G845= Synonymous 19/52 - 1
12-6145567-C-G c.2533G>C p.G845R Missense 19/52 - 1
12-6145571-C-G c.2529G>C p.K843N Missense 19/52 - 1
12-6145583-TC-T c.2516del p.G839Efs*4 Frameshift 19/52 - 2
12-6145590-G-T c.2510C>A p.A837D Missense 19/52 - 3
12-6145590-G-A c.2510C>T p.A837V Missense 19/52 - 1
12-6145603-C-T c.2497G>A p.G833S Missense 19/52 - 1
12-6145608-TG-GC c.2491_2492delinsGC p.H831A Missense 19/52 - 1
12-6145618-G-T c.2482C>A p.P828T Missense 19/52 - 1
12-6145619-A-G c.2481T>C p.C827= Synonymous 19/52 - 1
12-6145621-A-T c.2479T>A p.C827S Missense 19/52 - 1
12-6145623-C-T c.2477G>A p.R826K Missense 19/52 - 1
12-6145641-C-T c.2459G>A p.R820K Missense 19/52 - 1
12-6145646-C-A c.2454G>T p.E818D Missense 19/52 - 1
12-6145649-A-T c.2451T>A p.H817Q Missense 19/52 - 10
12-6145649-A-C c.2451T>G p.H817Q Missense 19/52 - 4
12-6145650-T-G c.2450A>C p.H817P Missense 19/52 - 1
12-6145653-C-T c.2447G>A p.R816Q Missense 19/52 - 1
12-6145654-G-A c.2446C>T p.R816W Missense 19/52 - 15
12-6145658-C-G c.2443-1G>C - IntronicSNV - 18/51 1
12-6146630-G-A c.2443-973C>T - IntronicSNV - 18/51 1
12-6146630-G-C c.2443-973C>G - IntronicSNV - 18/51 1
12-6148005-T-C c.2443-2348A>G - IntronicSNV - 18/51 3
12-6148005-T-G c.2443-2348A>C - IntronicSNV - 18/51 3
12-6148326-A-G c.2443-2669T>C - IntronicSNV - 18/51 1
12-6148555-A-G c.2443-2898T>C - IntronicSNV - 18/51 3
12-6148674-G-A c.2443-3017C>T - IntronicSNV - 18/51 1
12-6149738-T-G c.2442+3719A>C - IntronicSNV - 18/51 1
12-6149776-GAGGCAGGATTCAAACCTGGAAGTGTGAGGTTCCGATACCATGCCGTTTCCAGGCGGTTT-G c.2442+3623_2442+3681del - Unclassified - 18/51 1
12-6149799-G-A c.2442+3658C>T - IntronicSNV - 18/51 1
12-6153460-G-GC c.2438dup p.M814Hfs*5 Frameshift 18/52 - 2
12-6153464-G-A c.2435C>T p.P812L Missense 18/52 - 3
12-6153468-GG-T c.2430_2431delinsA p.C810* Frameshift 18/52 - 1
12-6153463-CG-C c.2435del p.P812Rfs*31 Frameshift 18/52 - 13
12-6153469-G-T c.2430C>A p.C810* Nonsense 18/52 - 1
12-6153488-C-A c.2411G>T p.C804F Missense 18/52 - 3
12-6153490-G-C c.2409C>G p.G803= Synonymous 18/52 - 1
12-6153501-T-C c.2398A>G p.M800V Missense 18/52 - 1
12-6153506-T-G c.2393A>C p.E798A Missense 18/52 - 1
12-6153512-T-G c.2387A>C p.D796A Missense 18/52 - 1
12-6153513-C-T c.2386G>A p.D796N Missense 18/52 - 2
12-6153513-C-G c.2386G>C p.D796H Missense 18/52 - 1
12-6153514-A-G c.2385T>C p.Y795= Synonymous 18/52 - 22
12-6153515-T-C c.2384A>G p.Y795C Missense 18/52 - 4
12-6153522-G-A c.2377C>T p.Q793* Nonsense 18/52 - 1
12-6153523-G-C c.2376C>G p.C792W Missense 18/52 - 1
12-6153526-C-T c.2373G>A p.T791= Synonymous 18/52 - 1
12-6153527-G-A c.2372C>T p.T791M Missense 18/52 - 11
12-6153530-TT-GC c.2368_2369delinsGC p.K790A Missense 18/52 - 1
12-6153534-T-C c.2365A>G p.T789A Missense 18/52 - 50
12-6153534-T-G c.2365A>C p.T789P Missense 18/52 - 29
12-6153536-C-T c.2363G>A p.C788Y Missense 18/52 - 2
12-6153537-A-G c.2362T>C p.C788R Missense 18/52 - 6
12-6153539-T-G c.2360A>C p.E787A Missense 18/52 - 1
12-6153540-C-T c.2359G>A p.E787K Missense 18/52 - 4
12-6153540-C-G c.2359G>C p.E787Q Missense 18/52 - 1
12-6153542-AG-GC c.2356_2357delinsGC p.L786A Missense 18/52 - 1
12-6153545-C-T c.2354G>A p.G785E Missense 18/52 - 1
12-6153548-T-G c.2351A>C p.E784A Missense 18/52 - 1
12-6153554-CG-GC c.2344_2345delinsGC p.R782A Missense 18/52 - 1
12-6153554-C-T c.2345G>A p.R782Q Missense 18/52 - 2
12-6153555-G-A c.2344C>T p.R782W Missense 18/52 - 7
12-6153559-G-C c.2340C>G p.N780K Missense 18/52 - 2
12-6153581-TT-GC c.2317_2318delinsGC p.K773A Missense 18/52 - 1
12-6153586-C-A c.2313G>T p.M771I Missense 18/52 - 3
12-6153586-C-G c.2313G>C p.M771I Missense 18/52 - 1
12-6153586-C-T c.2313G>A p.M771I Missense 18/52 - 1
12-6153587-A-G c.2312T>C p.M771T Missense 18/52 - 1
12-6153588-T-C c.2311A>G p.M771V Missense 18/52 - 1
12-6153591-G-A c.2308C>T p.P770S Missense 18/52 - 1
12-6153596-C-T c.2303G>A p.R768Q Missense 18/52 - 2
12-6153597-G-A c.2302C>T p.R768W Missense 18/52 - 1
12-6153608-CT-GC c.2290_2291delinsGC p.S764A Missense 18/52 - 1
12-6153610-CCT-ACA c.2287_2289delinsTGT p.R763C Missense 18/52 - 1
12-6153610-C-G c.2289G>C p.R763S Missense 18/52 - 2
12-6153610-C-A c.2289G>T p.R763S Missense 18/52 - 2
12-6153609-T-TC c.2289dup p.S764Efs*16 Frameshift 18/52 - 1
12-6153611-C-A c.2288G>T p.R763M Missense 18/52 - 1
12-6153612-T-C c.2287A>G p.R763G Missense 18/52 - 5
12-6153659-G-C c.2282-42C>G - IntronicSNV - 17/51 2
12-6153659-G-T c.2282-42C>A - IntronicSNV - 17/51 2
12-6153738-A-G c.2282-121T>C - IntronicSNV - 17/51 1
12-6153750-A-G c.2282-133T>C - IntronicSNV - 17/51 1
12-6153750-A-T c.2282-133T>A - IntronicSNV - 17/51 1
12-6153967-T-A c.2282-350A>T - IntronicSNV - 17/51 2
12-6154206-T-C c.2282-589A>G - IntronicSNV - 17/51 1
12-6155885-T-C c.2281+4A>G - IntronicSNV - 17/51 1
12-6155891-C-T c.2279G>A p.R760H Missense 17/52 - 2
12-6155891-C-A c.2279G>T p.R760L Missense 17/52 - 1
12-6155892-G-A c.2278C>T p.R760C Missense 17/52 - 6
12-6155900-CAG-C c.2269_2270del p.L757Vfs*22 Frameshift 17/52 - 3
12-6155943-C-T c.2227G>A p.V743I Missense 17/52 - 1
12-6155950-C-G c.2220G>C p.M740I Missense 17/52 - 12
12-6155950-C-T c.2220G>A p.M740I Missense 17/52 - 18
12-6155950-C-A c.2220G>T p.M740I Missense 17/52 - 12
12-6155960-TG-GC c.2209_2210delinsGC p.H737A Missense 17/52 - 1
12-6155960-T-C c.2210A>G p.H737R Missense 17/52 - 1
12-6155962-C-A c.2208G>T p.M736I Missense 17/52 - 1
12-6156477-C-A c.2187-494G>T - IntronicSNV - 16/51 2
12-6156477-C-T c.2187-494G>A - IntronicSNV - 16/51 2
12-6156635-A-G c.2187-652T>C - IntronicSNV - 16/51 2
12-6156635-A-T c.2187-652T>A - IntronicSNV - 16/51 2
12-6157394-T-C c.2187-1411A>G - IntronicSNV - 16/51 1
12-6159045-C-T c.2186+2664G>A - IntronicSNV - 16/51 1
12-6160146-T-A c.2186+1563A>T - IntronicSNV - 16/51 1
12-6160146-T-C c.2186+1563A>G - IntronicSNV - 16/51 1
12-6160614-C-T c.2186+1095G>A - IntronicSNV - 16/51 1
12-6161713-T-C c.2182A>G p.M728V Missense 16/52 - 1
12-6161721-T-C c.2174A>G p.H725R Missense 16/52 - 1
12-6161721-TG-GC c.2173_2174delinsGC p.H725A Missense 16/52 - 1
12-6161737-CT-C c.2157del p.D720Tfs*21 Frameshift 16/52 - 1
12-6161742-GG-CC c.2152_2153inv p.P718G Missense 16/52 - 1
12-6161742-G-A c.2153C>T p.P718L Missense 16/52 - 1
12-6161779-G-A c.2116C>T p.Q706* Nonsense 16/52 - 1
12-6161797-C-CA c.2097_2098insT p.D700* Nonsense 16/52 - 1
12-6161797-C-G c.2098G>C p.D700H Missense 16/52 - 1
12-6161802-C-T c.2093G>A p.R698K Missense 16/52 - 1
12-6161803-T-A c.2092A>T p.R698W Missense 16/52 - 1
12-6161823-GG-C c.2071_2072delinsG p.P691Efs*50 Frameshift 16/52 - 1
12-6161828-G-T c.2067C>A p.C689* Nonsense 16/52 - 1
12-6161856-T-C c.2039A>G p.N680S Missense 16/52 - 1
12-6161870-C-T c.2025G>A p.P675= Synonymous 16/52 - 1
12-6161872-GGTAAGA-G c.2017_2022del p.S673_Y674del InFrameDeletion 16/52 - 1
12-6161875-TAA-T c.2019_2020del p.Y674Pfs*3 Frameshift 16/52 - 1
12-6161887-G-A c.2008C>T p.R670C Missense 16/52 - 1
12-6161934-T-G c.1961A>C p.K654T Missense 16/52 - 1
12-6161937-G-A c.1958C>T p.P653L Missense 16/52 - 1
12-6161963-G-A c.1946-14C>T - IntronicSNV - 15/51 1
12-6161963-G-GACA c.1946-15_1946-14insTGT - IntronicInsertion - 15/51 1
12-6161963-G-GA c.1946-15dup - IntronicInsertion - 15/51 1
12-6161963-G-GAGA c.1946-17_1946-15dup - IntronicInsertion - 15/51 1
12-6162661-G-A c.1946-712C>T - IntronicSNV - 15/51 1
12-6162661-G-C c.1946-712C>G - IntronicSNV - 15/51 1
12-6162754-A-G c.1946-805T>C - IntronicSNV - 15/51 1
12-6162852-T-C c.1946-903A>G - IntronicSNV - 15/51 1
12-6162852-T-G c.1946-903A>C - IntronicSNV - 15/51 1
12-6164455-C-G c.1945+1568G>C - IntronicSNV - 15/51 1
12-6164455-C-T c.1945+1568G>A - IntronicSNV - 15/51 1
12-6166042-C-T c.1926G>A p.W642* Nonsense 15/52 - 1
12-6166046-G-A c.1922C>T p.A641V Missense 15/52 - 2
12-6166052-C-T c.1916G>A p.R639H Missense 15/52 - 1
12-6166059-C-G c.1909G>C p.G637R Missense 15/52 - 1
12-6166060-TCT-ACA c.1906_1908delinsTGT p.R636C Missense 15/52 - 1
12-6166067-G-A c.1901C>T p.A634V Missense 15/52 - 1
12-6166071-A-G c.1897T>C p.C633R Missense 15/52 - 2
12-6166076-G-A c.1892C>T p.A631V Missense 15/52 - 4
12-6166083-TA-T c.1885del p.Y629Mfs*22 Frameshift 15/52 - 1
12-6166089-C-A c.1879G>T p.A627S Missense 15/52 - 1
12-6166098-C-T c.1870G>A p.G624S Missense 15/52 - 1
12-6166105-G-T c.1863C>A p.C621* Nonsense 15/52 - 1
12-6166120-CGA-GTC c.1846_1848delinsGAC p.S616D Missense 15/52 - 1
12-6166122-A-C c.1846T>G p.S616A Missense 15/52 - 1
12-6166124-C-CA c.1843dup p.C615Lfs*35 Frameshift 15/52 - 1
12-6166131-A-T c.1837T>A p.C613S Missense 15/52 - 1
12-6166130-C-G c.1838G>C p.C613S Missense 15/52 - 1
12-6166138-G-T c.1830C>A p.Y610* Nonsense 15/52 - 1
12-6166151-C-T c.1817G>A p.R606Q Missense 15/52 - 1
12-6166156-G-T c.1812C>A p.Y604* Nonsense 15/52 - 1
12-6166177-ACG-TCA c.1789_1791delinsTGA p.R597* Nonsense 15/52 - 1
12-6166177-ACG-CCA c.1789_1791delinsTGG p.R597W Missense 15/52 - 1
12-6166181-T-C c.1787A>G p.H596R Missense 15/52 - 1
12-6166181-TG-GC c.1786_1787delinsGC p.H596A Missense 15/52 - 1
12-6166183-G-A c.1785C>T p.C595= Synonymous 15/52 - 1
12-6166187-G-C c.1781C>G p.A594G Missense 15/52 - 3
12-6166193-A-T c.1775T>A p.F592Y Missense 15/52 - 1
12-6166200-G-A c.1768C>T p.P590S Missense 15/52 - 1
12-6166204-CG-GT c.1763_1764delinsAC p.T588N Missense 15/52 - 1
12-6166214-G-T c.1754C>A p.A585E Missense 15/52 - 1
12-6166215-C-T c.1753G>A p.A585T Missense 15/52 - 1
12-6166217-C-A c.1751G>T p.C584F Missense 15/52 - 3
12-6166243-G-A c.1730-5C>T - IntronicSNV - 14/51 1
12-6167012-T-G c.1729+3A>C - IntronicSNV - 14/51 1
12-6167016-C-G c.1728G>C p.M576I Missense 14/52 - 1
12-6167016-C-T c.1728G>A p.M576I Missense 14/52 - 1
12-6167016-C-A c.1728G>T p.M576I Missense 14/52 - 1
12-6167033-C-G c.1711G>C p.A571P Missense 14/52 - 1
12-6167036-A-T c.1708T>A p.C570S Missense 14/52 - 1
12-6167035-C-G c.1709G>C p.C570S Missense 14/52 - 1
12-6167043-G-C c.1701C>G p.S567R Missense 14/52 - 1
12-6167051-G-A c.1693C>T p.Q565* Nonsense 14/52 - 1
12-6167058-GC-G c.1686del p.Q563Rfs*14 Frameshift 14/52 - 1
12-6167080-A-C c.1664T>G p.L555R Missense 14/52 - 1
12-6167086-C-CA c.1657dup p.W553Lfs*97 Frameshift 14/52 - 1
12-6167094-CC-GT c.1649_1650delinsAC p.G550D Missense 14/52 - 1
12-6167099-A-G c.1645T>C p.F549L Missense 14/52 - 1
12-6167097-G-T c.1647C>A p.F549L Missense 14/52 - 1
12-6167097-G-C c.1647C>G p.F549L Missense 14/52 - 1
12-6167107-A-C c.1637T>G p.V546G Missense 14/52 - 1
12-6167110-C-G c.1634G>C p.R545P Missense 14/52 - 1
12-6167117-C-A c.1627G>T p.E543* Nonsense 14/52 - 1
12-6167118-C-G c.1626G>C p.A542= Synonymous 14/52 - 1
12-6167119-G-C c.1625C>G p.A542G Missense 14/52 - 3
12-6167121-C-A c.1623G>T p.L541= Synonymous 14/52 - 1
12-6167121-C-G c.1623G>C p.L541= Synonymous 14/52 - 1
12-6167121-C-T c.1623G>A p.L541= Synonymous 14/52 - 1
12-6167123-G-A c.1621C>T p.L541= Synonymous 14/52 - 1
12-6167130-G-A c.1614C>T p.P538= Synonymous 14/52 - 1
12-6167131-G-A c.1613C>T p.P538L Missense 14/52 - 1
12-6167131-G-C c.1613C>G p.P538R Missense 14/52 - 1
12-6167131-G-T c.1613C>A p.P538H Missense 14/52 - 1
12-6167156-T-G c.1588A>C p.N530H Missense 14/52 - 1
12-6167161-T-C c.1583A>G p.N528S Missense 14/52 - 7
12-6167164-T-A c.1580A>T p.Y527F Missense 14/52 - 1
12-6167166-A-C c.1578T>G p.N526K Missense 14/52 - 1
12-6167170-C-T c.1574G>A p.G525E Missense 14/52 - 1
12-6167173-C-T c.1571G>A p.C524Y Missense 14/52 - 2
12-6167182-CA-GT c.1561_1562delinsAC p.C521T Missense 14/52 - 1
12-6167194-G-A c.1550C>T p.A517V Missense 14/52 - 1
12-6167196-A-G c.1548T>C p.Y516= Synonymous 14/52 - 2
12-6167196-A-T c.1548T>A p.Y516* Nonsense 14/52 - 2
12-6167213-G-T c.1534-3C>A - IntronicSNV - 13/51 1
12-6169027-T-C c.1534-1817A>G - IntronicSNV - 13/51 2
12-6169198-T-C c.1534-1988A>G - IntronicSNV - 13/51 2
12-6169323-T-G c.1534-2113A>C - IntronicSNV - 13/51 1
12-6169733-T-C c.1533+2387A>G - IntronicSNV - 13/51 4
12-6170486-G-A c.1533+1634C>T - IntronicSNV - 13/51 1
12-6170486-G-T c.1533+1634C>A - IntronicSNV - 13/51 1
12-6172119-C-T c.1533+1G>A - IntronicSNV - 13/51 1
12-6172119-C-A c.1533+1G>T - IntronicSNV - 13/51 1
12-6172122-T-G c.1531A>C p.K511Q Missense 13/52 - 1
12-6172123-C-T c.1530G>A p.V510= Synonymous 13/52 - 1
12-6172134-T-C c.1519A>G p.R507G Missense 13/52 - 1
12-6172137-C-T c.1516G>A p.G506R Missense 13/52 - 1
12-6172157-T-G c.1496A>C p.Q499P Missense 13/52 - 2
12-6172158-G-A c.1495C>T p.Q499* Nonsense 13/52 - 1
12-6172159-C-A c.1494G>T p.L498= Synonymous 13/52 - 1
12-6172159-C-T c.1494G>A p.L498= Synonymous 13/52 - 1
12-6172159-C-G c.1494G>C p.L498= Synonymous 13/52 - 1
12-6172161-G-A c.1492C>T p.L498= Synonymous 13/52 - 1
12-6172175-C-T c.1478G>A p.S493N Missense 13/52 - 1
12-6172182-G-A c.1471C>T p.R491C Missense 13/52 - 1
12-6172190-G-C c.1463C>G p.A488G Missense 13/52 - 2
12-6172190-G-T c.1463C>A p.A488D Missense 13/52 - 1
12-6172191-C-T c.1462G>A p.A488T Missense 13/52 - 1
12-6172202-T-C c.1451A>G p.H484R Missense 13/52 - 12
12-6172202-T-A c.1451A>T p.H484L Missense 13/52 - 4
12-6172207-G-C c.1446C>G p.I482M Missense 13/52 - 1
12-6172212-G-A c.1441C>T p.R481C Missense 13/52 - 1
12-6172220-C-T c.1433G>A p.G478D Missense 13/52 - 1
12-6172230-A-G c.1433-10T>C - IntronicSNV - 12/51 1
12-6173433-C-T c.1411G>A p.V471I Missense 12/52 - 4
12-6173446-C-G c.1398G>C p.M466I Missense 12/52 - 1
12-6173446-C-T c.1398G>A p.M466I Missense 12/52 - 1
12-6173446-C-A c.1398G>T p.M466I Missense 12/52 - 1
12-6173448-T-C c.1396A>G p.M466V Missense 12/52 - 1
12-6173464-ATG-CTT c.1378_1380delinsAAG p.H460K Missense 12/52 - 1
12-6173465-T-C c.1379A>G p.H460R Missense 12/52 - 1
12-6173465-TG-GC c.1378_1379delinsGC p.H460A Missense 12/52 - 1
12-6173466-G-A c.1378C>T p.H460Y Missense 12/52 - 1
12-6173471-AGTTTCACAAGGCTGTTGTGCAGGCCAG-A c.1346_1372del p.P449_K457del InFrameDeletion 12/52 - 1
12-6173538-G-A c.1306C>T p.R436C Missense 12/52 - 1
12-6174316-A-G c.1280T>C p.I427T Missense 11/52 - 1
12-6174325-GAGA-G c.1268_1270del p.F423del InFrameDeletion 11/52 - 1
12-6174341-G-A c.1255C>T p.Q419* Nonsense 11/52 - 1
12-6174349-C-T c.1247G>A p.R416Q Missense 11/52 - 1
12-6174350-G-A c.1246C>T p.R416W Missense 11/52 - 1
12-6174368-A-T c.1228T>A p.C410S Missense 11/52 - 1
12-6174367-C-G c.1229G>C p.C410S Missense 11/52 - 1
12-6174374-C-T c.1222G>A p.G408R Missense 11/52 - 1
12-6174374-C-G c.1222G>C p.G408R Missense 11/52 - 1
12-6174408-GA-G c.1187del p.F396Sfs*61 Frameshift 11/52 - 1
12-6174412-TG-GC c.1183_1184delinsGC p.H395A Missense 11/52 - 1
12-6174412-T-C c.1184A>G p.H395R Missense 11/52 - 1
12-6174414-T-G c.1182A>C p.S394= Synonymous 11/52 - 2
12-6174411-GTGTGATTGACC-G c.1174_1184del p.G392Lfs*5 Frameshift 11/52 - 1
12-6174423-T-A c.1173A>T p.T391= Synonymous 11/52 - 3
12-6174423-T-C c.1173A>G p.T391= Synonymous 11/52 - 1
12-6174423-T-G c.1173A>C p.T391= Synonymous 11/52 - 1
12-6174432-G-C c.1164C>G p.C388W Missense 11/52 - 1
12-6174436-TC-GG c.1159_1160delinsCC p.E387P Missense 11/52 - 1
12-6174729-G-A c.1157-290C>T - IntronicSNV - 10/51 1
12-6174729-G-C c.1157-290C>G - IntronicSNV - 10/51 1
12-6175579-T-C c.1157-1140A>G - IntronicSNV - 10/51 1
12-6175579-T-G c.1157-1140A>C - IntronicSNV - 10/51 1
12-6180472-C-A c.1147G>T p.E383* Nonsense 10/52 - 2
12-6180484-A-C c.1135T>G p.C379G Missense 10/52 - 2
12-6180489-C-T c.1130G>A p.W377* Nonsense 10/52 - 1
12-6180502-G-A c.1117C>T p.R373* Nonsense 10/52 - 2
12-6180504-C-T c.1115G>A p.C372Y Missense 10/52 - 1
12-6180507-A-G c.1112T>C p.I371T Missense 10/52 - 1
12-6181495-A-G c.1109+2T>C - IntronicSNV - 9/51 1
12-6181497-C-T c.1109G>A p.C370Y Missense 9/52 - 1
12-6181508-G-A c.1098C>T p.D366= Synonymous 9/52 - 1
12-6181513-G-A c.1093C>T p.R365* Nonsense 9/52 - 1
12-6181519-G-A c.1087C>T p.L363F Missense 9/52 - 1
12-6181528-C-T c.1078G>A p.G360S Missense 9/52 - 1
12-6181529-G-A c.1077C>T p.P359= Synonymous 9/52 - 1
12-6181546-C-T c.1060G>A p.G354R Missense 9/52 - 1
12-6181558-AG-A c.1047del p.C350Afs*107 Frameshift 9/52 - 1
12-6181569-G-A c.1037C>T p.T346I Missense 9/52 - 3
12-6181579-C-A c.1027G>T p.V343L Missense 9/52 - 1
12-6182808-C-A c.974G>T p.C325F Missense 8/52 - 2
12-6182811-C-T c.971G>A p.R324Q Missense 8/52 - 2
12-6182812-G-A c.970C>T p.R324* Nonsense 8/52 - 5
12-6182822-C-T c.960G>A p.M320I Missense 8/52 - 1
12-6182828-A-C c.954T>G p.N318K Missense 8/52 - 2
12-6182828-A-T c.954T>A p.N318K Missense 8/52 - 4
12-6182829-T-C c.953A>G p.N318S Missense 8/52 - 1
12-6182833-AT-A c.949del p.I317Sfs*140 Frameshift 8/52 - 1
12-6182850-G-A c.932C>T p.T311I Missense 8/52 - 1
12-6182865-G-C c.917C>G p.S306C Missense 8/52 - 1
12-6182876-C-CCTGTTG c.905_906insCAACAG p.Y301_R302insSN InFrameInsertion 8/52 - 1
12-6182879-A-T c.903T>A p.Y301* Nonsense 8/52 - 1
12-6182893-C-G c.889G>C p.A297P Missense 8/52 - 1
12-6182903-TG-T c.878del p.P293Qfs*164 Frameshift 8/52 - 2
12-6183181-T-C c.875-274A>G - IntronicSNV - 7/51 1
12-6184487-G-A c.874+14C>T - IntronicSNV - 7/51 1
12-6184496-C-T c.874+5G>A - IntronicSNV - 7/51 1
12-6184500-C-T c.874+1G>A - IntronicSNV - 7/51 1
12-6184509-CT-AG c.865_866inv p.S289L Missense 7/52 - 2
12-6184542-TC-GA c.832_833inv p.E278S Missense 7/52 - 2
12-6184552-A-G c.823T>C p.C275R Missense 7/52 - 1
12-6184552-A-T c.823T>A p.C275S Missense 7/52 - 2
12-6184551-C-G c.824G>C p.C275S Missense 7/52 - 1
12-6184557-C-G c.818G>C p.R273P Missense 7/52 - 1
12-6184558-G-A c.817C>T p.R273W Missense 7/52 - 8
12-6184562-G-T c.813C>A p.Y271* Nonsense 7/52 - 2
12-6184565-C-T c.810G>A p.E270= Synonymous 7/52 - 1
12-6184614-A-T c.761T>A p.L254* Nonsense 7/52 - 1
12-6184639-AAAGGCTC-A c.730_736del p.E244Lfs*211 Frameshift 7/52 - 1
12-6184646-G-C c.729C>G p.P243= Synonymous 7/52 - 1
12-6184651-TCCACCA-T c.719_724del p.L240_D242delinsH MultiAAMissense 7/52 - 1
12-6184653-A-C c.722T>G p.V241G Missense 7/52 - 1
12-6184668-C-T c.707G>A p.R236H Missense 7/52 - 1
12-6184710-C-A c.665G>T p.W222L Missense 7/52 - 1
12-6186667-A-G c.658-1950T>C - IntronicSNV - 6/51 5
12-6187665-G-T c.658-2948C>A - IntronicSNV - 6/51 3
12-6193713-G-A c.658-8996C>T - IntronicSNV - 6/51 1
12-6194655-T-C c.658-9938A>G - IntronicSNV - 6/51 1
12-6196183-C-A c.657+8443G>T - IntronicSNV - 6/51 2
12-6196183-C-T c.657+8443G>A - IntronicSNV - 6/51 2
12-6200443-C-G c.657+4183G>C - IntronicSNV - 6/51 1
12-6200443-C-T c.657+4183G>A - IntronicSNV - 6/51 1
12-6202049-G-A c.657+2577C>T - IntronicSNV - 6/51 1
12-6202049-G-T c.657+2577C>A - IntronicSNV - 6/51 1
12-6202818-A-G c.657+1808T>C - IntronicSNV - 6/51 1
12-6204538-G-A c.657+88C>T - IntronicSNV - 6/51 1
12-6204615-T-C c.657+11A>G - IntronicSNV - 6/51 1
12-6204624-A-G c.657+2T>C - IntronicSNV - 6/51 1
12-6204631-G-A c.652C>T p.Q218* Nonsense 6/52 - 1
12-6204653-G-C c.630C>G p.C210W Missense 6/52 - 1
12-6204656-T-A c.627A>T p.S209= Synonymous 6/52 - 1
12-6204656-T-C c.627A>G p.S209= Synonymous 6/52 - 1
12-6204656-T-G c.627A>C p.S209= Synonymous 6/52 - 1
12-6204657-G-A c.626C>T p.S209L Missense 6/52 - 1
12-6204678-C-T c.605G>A p.R202Q Missense 6/52 - 1
12-6204678-C-G c.605G>C p.R202P Missense 6/52 - 1
12-6204679-G-A c.604C>T p.R202W Missense 6/52 - 1
12-6204699-CT-GC c.583_584delinsGC p.S195A Missense 6/52 - 3
12-6204703-T-C c.580A>G p.S194G Missense 6/52 - 1
12-6204705-A-G c.578T>C p.L193P Missense 6/52 - 1
12-6204708-G-A c.575C>T p.A192V Missense 6/52 - 1
12-6204712-A-G c.571T>C p.W191R Missense 6/52 - 1
12-6204737-C-T c.546G>A p.S182= Synonymous 6/52 - 3
12-6204752-T-C c.533-2A>G - IntronicSNV - 5/51 1
12-6208618-T-C c.533-3868A>G - IntronicSNV - 5/51 1
12-6208695-C-A c.533-3945G>T - IntronicSNV - 5/51 1
12-6208695-C-T c.533-3945G>A - IntronicSNV - 5/51 1
12-6215634-A-G c.532+3906T>C - IntronicSNV - 5/51 3
12-6215634-A-T c.532+3906T>A - IntronicSNV - 5/51 3
12-6219557-T-C c.515A>G p.D172G Missense 5/52 - 1
12-6219574-G-T c.498C>A p.N166K Missense 5/52 - 1
12-6219572-ATGT-A c.497_499del p.N166del InFrameDeletion 5/52 - 1
12-6219575-T-A c.497A>T p.N166I Missense 5/52 - 2
12-6219574-GT-G c.497del p.N166Tfs*9 Frameshift 5/52 - 1
12-6219592-C-A c.480G>T p.G160= Synonymous 5/52 - 1
12-6219592-C-T c.480G>A p.G160= Synonymous 5/52 - 1
12-6219592-C-G c.480G>C p.G160= Synonymous 5/52 - 1
12-6219594-C-A c.478G>T p.G160W Missense 5/52 - 3
12-6219594-C-T c.478G>A p.G160R Missense 5/52 - 2
12-6219594-C-G c.478G>C p.G160R Missense 5/52 - 1
12-6219599-G-A c.473C>T p.T158I Missense 5/52 - 1
12-6219603-T-C c.469A>G p.K157E Missense 5/52 - 1
12-6219623-A-G c.449T>C p.L150P Missense 5/52 - 2
12-6219642-C-T c.430G>A p.G144S Missense 5/52 - 1
12-6219647-C-T c.425G>A p.G142D Missense 5/52 - 1
12-6219647-C-A c.425G>T p.G142V Missense 5/52 - 1
12-6219651-C-A c.421G>T p.D141Y Missense 5/52 - 3
12-6219651-C-T c.421G>A p.D141N Missense 5/52 - 1
12-6219663-C-A c.409G>T p.V137L Missense 5/52 - 1
12-6219675-C-A c.397G>T p.A133S Missense 5/52 - 1
12-6219675-C-T c.397G>A p.A133T Missense 5/52 - 1
12-6219681-C-T c.391G>A p.G131S Missense 5/52 - 3
12-6219682-G-A c.390C>T p.S130= Synonymous 5/52 - 2
12-6219686-A-G c.386T>C p.L129P Missense 5/52 - 1
12-6219687-G-T c.385C>A p.L129M Missense 5/52 - 4
12-6219688-C-G c.384G>C p.K128N Missense 5/52 - 1
12-6219688-C-A c.384G>T p.K128N Missense 5/52 - 1
12-6219694-AG-A c.378del p.Y127Tfs*48 Frameshift 5/52 - 1
12-6219712-TAG-ACA c.358_360delinsTGT p.L120C Missense 5/52 - 1
12-6219797-G-T c.324-49C>A - IntronicSNV - 4/51 1
12-6219808-C-T c.324-60G>A - IntronicSNV - 4/51 1
12-6219916-C-G c.323+116G>C - IntronicSNV - 4/51 1
12-6220032-C-T c.323G>A p.R108K Missense 4/52 - 1
12-6220036-G-A c.319C>T p.Q107* Nonsense 4/52 - 1
12-6220038-TC-T c.316del p.D106Tfs*15 Frameshift 4/52 - 1
12-6220043-CCT-C c.311_312del p.Q104Rfs*19 Frameshift 4/52 - 3
12-6220046-TG-CA c.308_309inv p.T103M Missense 4/52 - 1
12-6220048-T-C c.307A>G p.T103A Missense 4/52 - 1
12-6220051-C-A c.304G>T p.V102L Missense 4/52 - 1
12-6220051-C-T c.304G>A p.V102M Missense 4/52 - 1
12-6220058-ATT-TTG c.295_297delinsCAA p.N99Q Missense 4/52 - 2
12-6220063-C-T c.292G>A p.V98I Missense 4/52 - 1
12-6220064-A-G c.291T>C p.F97= Synonymous 4/52 - 1
12-6220071-T-C c.284A>G p.H95R Missense 4/52 - 1
12-6220071-TG-GC c.283_284delinsGC p.H95A Missense 4/52 - 1
12-6220095-T-G c.260A>C p.Y87S Missense 4/52 - 6
12-6220099-C-T c.256G>A p.V86M Missense 4/52 - 1
12-6220111-C-T c.244G>A p.V82M Missense 4/52 - 1
12-6220126-G-A c.229C>T p.Q77* Nonsense 4/52 - 1
12-6220127-GAA-CTC c.226_228delinsGAG p.F76E Missense 4/52 - 1
12-6220134-C-G c.221G>C p.G74A Missense 4/52 - 1
12-6220134-C-T c.221G>A p.G74E Missense 4/52 - 1
12-6225931-G-A c.220+4409C>T - IntronicSNV - 3/51 1
12-6230320-C-A c.220+20G>T - IntronicSNV - 3/51 1
12-6230340-C-T c.220G>A p.G74R Missense 3/52 - 1
12-6230341-CAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCG-C c.161_219del p.A54Gfs*20 Unclassified 3/52 - 1
12-6230355-A-C c.205T>G p.S69A Missense 3/52 - 1
12-6230357-CG-GC c.202_203delinsGC p.R68A Missense 3/52 - 1
12-6230358-G-A c.202C>T p.R68C Missense 3/52 - 1
12-6230366-CA-GC c.193_194delinsGC p.C65A Missense 3/52 - 2
12-6230366-C-T c.194G>A p.C65Y Missense 3/52 - 1
12-6230374-TG-GT c.185_186delinsAC p.A62D Missense 3/52 - 1
12-6230389-G-T c.171C>A p.C57* Nonsense 3/52 - 1
12-6230390-CA-AG c.169_170delinsCT p.C57L Missense 3/52 - 2
12-6230399-G-A c.161C>T p.A54V Missense 3/52 - 1
12-6230404-GCT-TCA c.154_156delinsTGA p.S52* Nonsense 3/52 - 1
12-6230413-G-T c.147C>A p.S49R Missense 3/52 - 1
12-6230416-C-A c.144G>T p.G48= Synonymous 3/52 - 1
12-6230416-C-T c.144G>A p.G48= Synonymous 3/52 - 1
12-6230416-C-G c.144G>C p.G48= Synonymous 3/52 - 1
12-6230418-C-A c.142G>T p.G48W Missense 3/52 - 1
12-6230434-G-C c.126C>G p.F42L Missense 3/52 - 1
12-6230434-GAA-CTC c.124_126delinsGAG p.F42E Missense 3/52 - 1
12-6230438-T-G c.122A>C p.D41A Missense 3/52 - 1
12-6230444-C-G c.116G>C p.G39A Missense 3/52 - 1
12-6230445-C-T c.115G>A p.G39R Missense 3/52 - 1
12-6230445-C-G c.115G>C p.G39R Missense 3/52 - 1
12-6230446-G-A c.114C>T p.F38= Synonymous 3/52 - 1
12-6230447-A-G c.113T>C p.F38S Missense 3/52 - 1
12-6230456-CA-TC c.103_104delinsGA p.C35D Missense 3/52 - 1
12-6230459-C-T c.101G>A p.R34Q Missense 3/52 - 1
12-6230460-G-A c.100C>T p.R34* Nonsense 3/52 - 2
12-6230460-G-C c.100C>G p.R34G Missense 3/52 - 1
12-6230465-G-A c.95C>T p.T32M Missense 3/52 - 1
12-6230478-C-T c.82G>A p.G28S Missense 3/52 - 1
12-6230496-A-C c.64T>G p.C22G Missense 3/52 - 1
12-6230500-G-C c.60C>G p.T20= Synonymous 3/52 - 1
12-6230502-T-C c.58A>G p.T20A Missense 3/52 - 1
12-6232300-G-C c.55+8C>G - IntronicSNV - 2/51 1
12-6232300-G-T c.55+8C>A - IntronicSNV - 2/51 1
12-6232307-C-CT c.55_55+1insA p.G19Efs*23 SpliceDonorInsertion - - 1
12-6232308-C-T c.55G>A p.G19R Missense 2/52 - 1
12-6232308-C-G c.55G>C p.G19R Missense 2/52 - 1
12-6232325-AG-GC c.37_38delinsGC p.L13A Missense 2/52 - 2
12-6232328-G-T c.35C>A p.A12D Missense 2/52 - 1
12-6232328-GC-AA c.34_35delinsTT p.A12F Missense 2/52 - 1
12-6232334-AG-GC c.28_29delinsGC p.L10A Missense 2/52 - 1
12-6232336-CAC-GAT c.25_27delinsATC p.V9I Missense 2/52 - 1
12-6232338-C-G c.25G>C p.V9L Missense 2/52 - 1
12-6232338-C-A c.25G>T p.V9L Missense 2/52 - 1
12-6232349-C-CT c.13dup p.R5Kfs*37 Frameshift 2/52 - 1
12-6232354-A-C c.9T>G p.P3= Synonymous 2/52 - 1
12-6232354-A-T c.9T>A p.P3= Synonymous 2/52 - 1
12-6232354-A-G c.9T>C p.P3= Synonymous 2/52 - 1
12-6232357-A-G c.6T>C p.I2= Synonymous 2/52 - 3
12-6232357-A-T c.6T>A p.I2= Synonymous 2/52 - 3
12-6232362-T-C c.1A>G p.M1? Missense 2/52 - 1
12-6233625-C-A c.-39G>T - IntronicSNV 1/52 - 1
12-6233625-C-G c.-39G>C - IntronicSNV 1/52 - 1
12-6232426-G-A c.1-64C>T - IntronicSNV - 1/51 1