KCNH2 potassium voltage-gated channel subfamily H member 2

Canonical transcript: NM_000238

1112 unique variant annotations were identified in 684 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-150642463-G-A c.3470C>T p.Pro1157Leu Missense 15/15 - 2
7-150642473-C-T c.3460G>A p.Gly1154Ser Missense 15/15 - 2
7-150642496-G-C c.3437C>G p.Thr1146Ser Missense 15/15 - 1
7-150642497-T-A c.3436A>T p.Thr1146Ser Missense 15/15 - 1
7-150642524-A-C c.3409T>G p.Ser1137Ala Missense 15/15 - 3
7-150642529-C-T c.3404G>A p.Arg1135His Missense 15/15 - 11
7-150642586-G-A c.3347C>T p.Ala1116Val Missense 15/15 - 15
7-150643973-G-C c.3322C>G p.Leu1108Val Missense 14/15 - 2
7-150644017-G-A c.3278C>T p.Pro1093Leu Missense 14/15 - 2
7-150644061-G-C c.3234C>G p.Tyr1078* Nonsense 14/15 - 1
7-150644061-G-T c.3234C>A p.Tyr1078* Nonsense 14/15 - 1
7-150644062-TA-GC c.3232_3233delinsGC p.Tyr1078Ala Missense 14/15 - 1
7-150644071-G-A c.3224C>T p.Pro1075Leu Missense 14/15 - 1
7-150644087-G-A c.3208C>T p.Gln1070* Nonsense 14/15 - 9
7-150644092-T-C c.3203A>G p.Gln1068Arg Missense 14/15 - 4
7-150644093-G-A c.3202C>T p.Gln1068* Nonsense 14/15 - 1
7-150644094-T-TT c.3201dup p.Gln1068Thrfs*51 Frameshift 14/15 - 1
7-150644099-G-C c.3196C>G p.Leu1066Val Missense 14/15 - 2
7-150644122-G-T c.3173C>A p.Ala1058Glu Missense 14/15 - 1
7-150644131-C-T c.3164G>A p.Arg1055Gln Missense 14/15 - 2
7-150644138-C-T c.3157G>A p.Glu1053Lys Missense 14/15 - 1
7-150644394-C-T c.3152+22G>A - IntronicSNV - 13/14 17
7-150644394-C-G c.3152+22G>C - IntronicSNV - 13/14 17
7-150644394-C-A c.3152+22G>T - IntronicSNV - 13/14 17
7-150644422-A-G c.3146T>C p.Leu1049Pro Missense 13/15 - 1
7-150644428-C-T c.3140G>A p.Arg1047His Missense 13/15 - 6
7-150644428-C-A c.3140G>T p.Arg1047Leu Missense 13/15 - 35
7-150644429-G-A c.3139C>T p.Arg1047Cys Missense 13/15 - 1
7-150644440-T-C c.3128A>G p.Asp1043Gly Missense 13/15 - 1
7-150644444-G-C c.3124C>G p.Leu1042Val Missense 13/15 - 1
7-150644450-T-C c.3118A>G p.Ser1040Gly Missense 13/15 - 3
7-150644453-C-A c.3115G>T p.Glu1039* Nonsense 13/15 - 1
7-150644458-TCGCCCCG-TCGCCCCGTCGCCCCG c.3105_3112dup p.Val1038Glyfs*22 Frameshift 13/15 - 1
7-150644458-T-A c.3110A>T p.Asp1037Val Missense 13/15 - 3
7-150644461-C-T c.3107G>A p.Gly1036Asp Missense 13/15 - 2
7-150644464-C-CC c.3107dup p.Asp1037Argfs*82 Frameshift 13/15 - 1
7-150644464-CC-C c.3107del p.Gly1036Alafs*21 Frameshift 13/15 - 1
7-150644465-G-A c.3103C>T p.Arg1035Trp Missense 13/15 - 1
7-150644468-GG-G c.3103del p.Arg1035Glyfs*22 Frameshift 13/15 - 1
7-150644469-CCGCC-CCGCCCCGCC c.3095_3099dup p.Pro1034Glyfs*25 Frameshift 13/15 - 1
7-150644470-CGCC-CGCCCGCC c.3096_3099dup p.Pro1034Alafs*86 Frameshift 13/15 - 1
7-150644471-G-A c.3097C>T p.Arg1033Trp Missense 13/15 - 3
7-150644474-G-A c.3094C>T p.Arg1032Trp Missense 13/15 - 1
7-150644483-T-TA c.3084_3085insT p.Ser1029* Nonsense 13/15 - 1
7-150644491-G-C c.3077C>G p.Pro1026Arg Missense 13/15 - 1
7-150644491-G-A c.3077C>T p.Pro1026Leu Missense 13/15 - 1
7-150644493-G-GG c.3079dup p.Leu1027Profs*92 Frameshift 13/15 - 1
7-150644503-GAGG-G c.3067_3069del p.Leu1023del InFrameDeletion 13/15 - 1
7-150644509-G-A c.3059C>T p.Pro1020Leu Missense 13/15 - 1
7-150644512-G-GG c.3060dup p.Ser1021Glnfs*98 Frameshift 13/15 - 1
7-150644516-G-A c.3052C>T p.Pro1018Ser Missense 13/15 - 1
7-150644516-G-C c.3052C>G p.Pro1018Ala Missense 13/15 - 2
7-150644521-G-A c.3047C>T p.Pro1016Leu Missense 13/15 - 1
7-150644522-G-A c.3046C>T p.Pro1016Ser Missense 13/15 - 1
7-150644527-CG-AC c.3040_3041delinsGT p.Arg1014Val Missense 13/15 - 1
7-150644528-G-A c.3040C>T p.Arg1014* Nonsense 13/15 - 14
7-150644548-C-T c.3020G>A p.Arg1007His Missense 13/15 - 1
7-150644554-C-T c.3014G>A p.Arg1005Gln Missense 13/15 - 1
7-150644554-CC-C c.3017del p.Gly1006Alafs*51 Frameshift 13/15 - 1
7-150644566-C-T c.3002G>A p.Trp1001* Nonsense 13/15 - 6
7-150644565-C-T c.3003G>A p.Trp1001* Nonsense 13/15 - 6
7-150644581-T-A c.2987A>T p.Asn996Ile Missense 13/15 - 15
7-150644603-CTGC-CTGCCTGC c.2966-2_2967dup p.Ala990Argfs*130 IntronicInsertion 13/15 - 1
7-150644699-CA-C c.2960del p.Leu987Argfs*70 Frameshift 12/15 - 1
7-150644699-CAG-C c.2959_2960del p.Leu987Valfs*131 Frameshift 12/15 - 2
7-150644704-GG-G c.2959del p.Leu987Cysfs*70 Frameshift 12/15 - 1
7-150644705-T-C c.2954A>G p.Asn985Ser Missense 12/15 - 2
7-150644711-G-A c.2948C>T p.Thr983Ile Missense 12/15 - 5
7-150644715-C-T c.2944G>A p.Asp982Asn Missense 12/15 - 1
7-150644718-T-C c.2941A>G p.Ser981Gly Missense 12/15 - 2
7-150644727-C-A c.2932G>T p.Glu978* Nonsense 12/15 - 1
7-150644744-GG-GGGG c.2916_2917dup p.Leu973Profs*2 Frameshift 12/15 - 1
7-150644756-G-A c.2903C>T p.Pro968Leu Missense 12/15 - 2
7-150644759-G-A c.2900C>T p.Pro967Leu Missense 12/15 - 2
7-150644760-G-GG c.2900dup p.Pro968Alafs*151 Frameshift 12/15 - 1
7-150644766-C-G c.2893G>C p.Gly965Arg Missense 12/15 - 2
7-150644766-C-T c.2893G>A p.Gly965Arg Missense 12/15 - 2
7-150644766-C-A c.2893G>T p.Gly965* Nonsense 12/15 - 2
7-150644772-G-T c.2887C>A p.Pro963Thr Missense 12/15 - 1
7-150644799-G-A c.2860C>T p.Arg954Cys Missense 12/15 - 5
7-150644816-C-T c.2843G>A p.Arg948His Missense 12/15 - 1
7-150644817-G-T c.2842C>A p.Arg948Ser Missense 12/15 - 2
7-150644878-C-T c.2781G>A p.Trp927* Nonsense 12/15 - 6
7-150644879-C-T c.2780G>A p.Trp927* Nonsense 12/15 - 6
7-150644880-A-C c.2779T>G p.Trp927Gly Missense 12/15 - 5
7-150644888-C-G c.2771G>C p.Gly924Ala Missense 12/15 - 3
7-150644888-C-T c.2771G>A p.Gly924Glu Missense 12/15 - 1
7-150644890-C-CC c.2775dup p.Pro926Alafs*14 Frameshift 12/15 - 8
7-150644892-GG-G c.2768del p.Pro923Argfs*51 Frameshift 12/15 - 1
7-150644895-G-A c.2764C>T p.Arg922Trp Missense 12/15 - 1
7-150644909-G-A c.2750C>T p.Pro917Leu Missense 12/15 - 2
7-150644915-G-A c.2744C>T p.Ala915Val Missense 12/15 - 3
7-150644921-G-A c.2738C>T p.Ala913Val Missense 12/15 - 6
7-150644930-G-A c.2729C>T p.Pro910Leu Missense 12/15 - 1
7-150644952-C-T c.2707G>A p.Gly903Arg Missense 12/15 - 1
7-150645534-T-G c.2690A>C p.Lys897Thr Missense 11/15 - 127
7-150645534-T-A c.2690A>T p.Lys897Met Missense 11/15 - 15
7-150645534-T-C c.2690A>G p.Lys897Arg Missense 11/15 - 16
7-150645539-CGT-GAC c.2683_2685delinsGTC p.Thr895Val Missense 11/15 - 1
7-150645540-G-A c.2684C>T p.Thr895Met Missense 11/15 - 3
7-150645541-T-C c.2683A>G p.Thr895Ala Missense 11/15 - 4
7-150645543-C-T c.2681G>A p.Arg894His Missense 11/15 - 1
7-150645550-G-A c.2674C>T p.Arg892Cys Missense 11/15 - 3
7-150645553-A-T c.2671T>A p.Phe891Ile Missense 11/15 - 1
7-150645555-G-C c.2669C>G p.Ser890Cys Missense 11/15 - 1
7-150645556-A-C c.2668T>G p.Ser890Ala Missense 11/15 - 5
7-150645564-C-T c.2660G>A p.Arg887His Missense 11/15 - 2
7-150645571-G-A c.2653C>T p.Arg885Cys Missense 11/15 - 4
7-150645585-C-A c.2639G>T p.Gly880Val Missense 11/15 - 2
7-150645600-G-A c.2624C>T p.Thr875Met Missense 11/15 - 2
7-150645607-C-T c.2617G>A p.Gly873Ser Missense 11/15 - 4
7-150645618-G-A c.2606C>T p.Pro869Leu Missense 11/15 - 1
7-150645943-C-T c.2592+1G>A - IntronicSNV - 10/14 1
7-150645949-G-A c.2587C>T p.Arg863* Nonsense 10/15 - 6
7-150645951-AG-GC c.2584_2585delinsGC p.Leu862Ala Missense 10/15 - 2
7-150645954-T-A c.2582A>T p.Asn861Ile Missense 10/15 - 6
7-150645954-TT-GC c.2581_2582delinsGC p.Asn861Ala Missense 10/15 - 2
7-150645955-T-G c.2581A>C p.Asn861His Missense 10/15 - 3
7-150645956-GA-GG c.2579delinsC p.Phe860Ser Missense 10/15 - 1
7-150645957-AA-GC c.2578_2579delinsGC p.Phe860Ala Missense 10/15 - 2
7-150645957-A-T c.2579T>A p.Phe860Tyr Missense 10/15 - 1
7-150645957-AA-CG c.2578_2579delinsCG p.Phe860Arg Missense 10/15 - 1
7-150645958-A-G c.2578T>C p.Phe860Leu Missense 10/15 - 1
7-150645956-G-C c.2580C>G p.Phe860Leu Missense 10/15 - 1
7-150645956-G-T c.2580C>A p.Phe860Leu Missense 10/15 - 1
7-150645963-A-G c.2573T>C p.Ile858Thr Missense 10/15 - 2
7-150645966-TC-AG c.2569_2570delinsCT p.Glu857Leu Missense 10/15 - 1
7-150645971-G-T c.2565C>A p.Ser855Arg Missense 10/15 - 1
7-150645971-G-C c.2565C>G p.Ser855Arg Missense 10/15 - 1
7-150645973-T-G c.2563A>C p.Ser855Arg Missense 10/15 - 1
7-150646000-G-T c.2536C>A p.Pro846Thr Missense 10/15 - 2
7-150646015-C-A c.2521G>T p.Val841Leu Missense 10/15 - 2
7-150646015-C-G c.2521G>C p.Val841Leu Missense 10/15 - 2
7-150646026-T-C c.2510A>G p.Asp837Gly Missense 10/15 - 2
7-150646027-C-A c.2509G>T p.Asp837Tyr Missense 10/15 - 1
7-150646027-C-T c.2509G>A p.Asp837Asn Missense 10/15 - 1
7-150646027-C-G c.2509G>C p.Asp837His Missense 10/15 - 1
7-150646032-C-T c.2504G>A p.Arg835Gln Missense 10/15 - 1
7-150646033-G-A c.2503C>T p.Arg835Trp Missense 10/15 - 4
7-150646050-TC-CG c.2485_2486delinsCG p.Asp829Arg Missense 10/15 - 1
7-150646053-C-G c.2483G>C p.Cys828Ser Missense 10/15 - 1
7-150646054-A-T c.2482T>A p.Cys828Ser Missense 10/15 - 1
7-150646059-G-A c.2477C>T p.Thr826Ile Missense 10/15 - 1
7-150646069-G-A c.2467C>T p.Arg823Trp Missense 10/15 - 8
7-150646070-CAC-ATC c.2465_2466delinsAT p.Val822Asp Missense 10/15 - 1
7-150646072-C-T c.2464G>A p.Val822Met Missense 10/15 - 10
7-150646072-C-A c.2464G>T p.Val822Leu Missense 10/15 - 1
7-150646072-C-G c.2464G>C p.Val822Leu Missense 10/15 - 1
7-150646074-TC-CG c.2461_2462delinsCG p.Asp821Arg Missense 10/15 - 1
7-150646077-C-T c.2459G>A p.Gly820Glu Missense 10/15 - 1
7-150646078-C-G c.2458G>C p.Gly820Arg Missense 10/15 - 1
7-150646078-C-T c.2458G>A p.Gly820Arg Missense 10/15 - 1
7-150646083-G-A c.2453C>T p.Ser818Leu Missense 10/15 - 7
7-150646083-G-C c.2453C>G p.Ser818Trp Missense 10/15 - 2
7-150646084-A-G c.2452T>C p.Ser818Pro Missense 10/15 - 2
7-150646089-C-A c.2447G>T p.Gly816Val Missense 10/15 - 3
7-150646092-G-A c.2444C>T p.Pro815Leu Missense 10/15 - 1
7-150646116-TC-AG c.2419_2420delinsCT p.Glu807Leu Missense 10/15 - 1
7-150646117-C-A c.2419G>T p.Glu807* Nonsense 10/15 - 1
7-150646119-C-T c.2417G>A p.Gly806Glu Missense 10/15 - 1
7-150646122-A-G c.2414T>C p.Phe805Ser Missense 10/15 - 1
7-150646122-A-C c.2414T>G p.Phe805Cys Missense 10/15 - 13
7-150646128-TC-CG c.2407_2408delinsCG p.Asp803Arg Missense 10/15 - 1
7-150646129-C-A c.2407G>T p.Asp803Tyr Missense 10/15 - 1
7-150646137-C-G c.2399G>C p.Gly800Ala Missense 10/15 - 1
7-150646137-C-T c.2399G>A p.Gly800Glu Missense 10/15 - 1
7-150646139-CT-C c.2399-2del - IntronicDeletion - 9/14 1
7-150646655-G-A c.2399-518C>T - IntronicSNV - 9/14 1
7-150646928-G-T c.2398+328C>A - IntronicSNV - 9/14 1
7-150646928-G-A c.2398+328C>T - IntronicSNV - 9/14 1
7-150647022-G-T c.2398+234C>A - IntronicSNV - 9/14 1
7-150647022-G-A c.2398+234C>T - IntronicSNV - 9/14 1
7-150647078-G-A c.2398+178C>T - IntronicSNV - 9/14 1
7-150647078-G-C c.2398+178C>G - IntronicSNV - 9/14 1
7-150647256-C-A c.2398G>T p.Gly800Trp Missense 9/15 - 2
7-150647267-A-C c.2387T>G p.Val796Gly Missense 9/15 - 1
7-150647269-GAC-TGG c.2383_2385delinsCCA p.Val795Pro Missense 9/15 - 1
7-150647271-C-T c.2383G>A p.Val795Ile Missense 9/15 - 1
7-150647283-G-A c.2371C>T p.Arg791Trp Missense 9/15 - 1
7-150647290-C-A c.2364G>T p.Glu788Asp Missense 9/15 - 2
7-150647290-C-G c.2364G>C p.Glu788Asp Missense 9/15 - 2
7-150647291-TC-AG c.2362_2363delinsCT p.Glu788Leu Missense 9/15 - 1
7-150647291-T-G c.2363A>C p.Glu788Ala Missense 9/15 - 1
7-150647292-C-T c.2362G>A p.Glu788Lys Missense 9/15 - 4
7-150647300-C-G c.2354G>C p.Gly785Ala Missense 9/15 - 1
7-150647300-C-A c.2354G>T p.Gly785Val Missense 9/15 - 3
7-150647300-C-T c.2354G>A p.Gly785Asp Missense 9/15 - 1
7-150647304-G-C c.2350C>G p.Arg784Gly Missense 9/15 - 6
7-150647304-G-A c.2350C>T p.Arg784Trp Missense 9/15 - 12
7-150647307-A-G c.2347T>C p.Ser783Pro Missense 9/15 - 1
7-150647327-A-G c.2327T>C p.Leu776Pro Missense 9/15 - 1
7-150647333-TC-CG c.2320_2321delinsCG p.Asp774Arg Missense 9/15 - 1
7-150647334-C-A c.2320G>T p.Asp774Tyr Missense 9/15 - 1
7-150647342-T-C c.2312A>G p.His771Arg Missense 9/15 - 1
7-150647345-A-G c.2309T>C p.Val770Ala Missense 9/15 - 1
7-150647355-C-A c.2299G>T p.Asp767Tyr Missense 9/15 - 2
7-150647379-T-C c.2275A>G p.Lys759Glu Missense 9/15 - 1
7-150647383-C-G c.2271G>C p.Lys757Asn Missense 9/15 - 1
7-150647383-C-A c.2271G>T p.Lys757Asn Missense 9/15 - 1
7-150647388-T-C c.2266A>G p.Met756Val Missense 9/15 - 4
7-150647397-C-A c.2257G>T p.Ala753Ser Missense 9/15 - 2
7-150647399-C-T c.2255G>A p.Arg752Gln Missense 9/15 - 3
7-150647399-C-G c.2255G>C p.Arg752Pro Missense 9/15 - 2
7-150647400-G-A c.2254C>T p.Arg752Trp Missense 9/15 - 23
7-150647405-C-G c.2249G>C p.Cys750Ser Missense 9/15 - 1
7-150647406-A-T c.2248T>A p.Cys750Ser Missense 9/15 - 1
7-150647408-C-A c.2246G>T p.Gly749Val Missense 9/15 - 1
7-150647410-CC-C c.2246del p.Gly749Alafs*8 Frameshift 9/15 - 1
7-150647415-T-A c.2239A>T p.Thr747Ser Missense 9/15 - 1
7-150647414-G-C c.2240C>G p.Thr747Ser Missense 9/15 - 1
7-150647423-C-G c.2231G>C p.Arg744Pro Missense 9/15 - 2
7-150647424-G-T c.2230C>A p.Arg744Arg Synonymous 9/15 - 1
7-150647424-G-C c.2230C>G p.Arg744Gly Missense 9/15 - 1
7-150647424-G-A c.2230C>T p.Arg744* Nonsense 9/15 - 4
7-150647430-G-C c.2224C>G p.Pro742Ala Missense 9/15 - 1
7-150647432-TT-CC c.2221_2222delinsGG p.Lys741Gly Missense 9/15 - 1
7-150647435-C-G c.2219G>C p.Cys740Ser Missense 9/15 - 1
7-150647436-A-T c.2218T>A p.Cys740Ser Missense 9/15 - 1
7-150647450-G-A c.2204C>T p.Ser735Leu Missense 9/15 - 1
7-150647451-A-C c.2203T>G p.Ser735Ala Missense 9/15 - 1
7-150647457-T-G c.2197A>C p.Asn733His Missense 9/15 - 1
7-150647468-C-T c.2186G>A p.Cys729Tyr Missense 9/15 - 1
7-150647469-A-T c.2185T>A p.Cys729Ser Missense 9/15 - 1
7-150647468-C-G c.2186G>C p.Cys729Ser Missense 9/15 - 1
7-150647472-T-A c.2182A>T p.Ile728Phe Missense 9/15 - 2
7-150647474-TC-CG c.2179_2180delinsCG p.Asp727Arg Missense 9/15 - 1
7-150647480-TG-AC c.2173_2174delinsGT p.Gln725Val Missense 9/15 - 1
7-150647481-G-A c.2173C>T p.Gln725* Nonsense 9/15 - 3
7-150647486-C-G c.2168G>C p.Cys723Ser Missense 9/15 - 3
7-150647487-A-T c.2167T>A p.Cys723Ser Missense 9/15 - 3
7-150647487-A-G c.2167T>C p.Cys723Arg Missense 9/15 - 2
7-150647492-G-C c.2162C>G p.Pro721Arg Missense 9/15 - 1
7-150647492-G-A c.2162C>T p.Pro721Leu Missense 9/15 - 1
7-150647969-C-T c.2145+40G>A - IntronicSNV - 8/14 5
7-150648009-C-G c.2145G>C p.Ala715Ala Synonymous 8/15 - 1
7-150648010-G-A c.2144C>T p.Ala715Val Missense 8/15 - 2
7-150648023-T-C c.2131A>G p.Ile711Val Missense 8/15 - 3
7-150648035-A-G c.2119T>C p.Tyr707His Missense 8/15 - 1
7-150648037-G-C c.2117C>G p.Ser706Cys Missense 8/15 - 2
7-150648037-G-A c.2117C>T p.Ser706Phe Missense 8/15 - 2
7-150648040-CC-C c.2115del p.Trp705Cysfs*9 Frameshift 8/15 - 1
7-150648061-T-G c.2093A>C p.Glu698Ala Missense 8/15 - 1
7-150648061-TC-AG c.2092_2093delinsCT p.Glu698Leu Missense 8/15 - 1
7-150648062-C-A c.2092G>T p.Glu698* Nonsense 8/15 - 3
7-150648067-C-G c.2087G>C p.Arg696Pro Missense 8/15 - 1
7-150648068-G-A c.2086C>T p.Arg696Cys Missense 8/15 - 1
7-150648073-C-T c.2081G>A p.Arg694His Missense 8/15 - 1
7-150648076-A-G c.2078T>C p.Leu693Pro Missense 8/15 - 1
7-150648092-G-A c.2062C>T p.Gln688* Nonsense 8/15 - 1
7-150648095-G-A c.2059C>T p.His687Tyr Missense 8/15 - 3
7-150648100-C-T c.2054G>A p.Arg685His Missense 8/15 - 1
7-150648112-CG-AA c.2041_2042delinsTT p.Arg681Leu Missense 8/15 - 1
7-150648118-CC-C c.2038del p.Val680Cysfs*34 Frameshift 8/15 - 1
7-150648121-A-G c.2033T>C p.Leu678Pro Missense 8/15 - 1
7-150648131-T-C c.2023A>G p.Thr675Ala Missense 8/15 - 1
7-150648134-G-T c.2020C>A p.His674Asn Missense 8/15 - 1
7-150648151-G-A c.2003C>T p.Ser668Leu Missense 8/15 - 1
7-150648154-TA-CC c.1999_2000delinsGG p.Tyr667Gly Missense 8/15 - 1
7-150648156-CAG-TGT c.1996_1998delinsACA p.Leu666Thr Missense 8/15 - 1
7-150648157-AG-GC c.1996_1997delinsGC p.Leu666Ala Missense 8/15 - 3
7-150648157-A-G c.1997T>C p.Leu666Pro Missense 8/15 - 1
7-150648159-CCG-GAC c.1993_1995delinsGTC p.Arg665Val Missense 8/15 - 2
7-150648160-C-G c.1994G>C p.Arg665Pro Missense 8/15 - 1
7-150648160-CG-GC c.1993_1994delinsGC p.Arg665Ala Missense 8/15 - 1
7-150648160-C-T c.1994G>A p.Arg665Gln Missense 8/15 - 1
7-150648160-CG-AA c.1993_1994delinsTT p.Arg665Leu Missense 8/15 - 1
7-150648163-TG-GC c.1990_1991delinsGC p.Gln664Ala Missense 8/15 - 1
7-150648163-T-G c.1991A>C p.Gln664Pro Missense 8/15 - 2
7-150648165-G-T c.1989C>A p.Ile663Ile Synonymous 8/15 - 1
7-150648165-G-A c.1989C>T p.Ile663Ile Synonymous 8/15 - 1
7-150648166-AT-CC c.1987_1988delinsGG p.Ile663Gly Missense 8/15 - 2
7-150648169-A-G c.1985T>C p.Ile662Thr Missense 8/15 - 2
7-150648169-AT-GC c.1984_1985delinsGC p.Ile662Ala Missense 8/15 - 4
7-150648169-AT-CC c.1984_1985delinsGG p.Ile662Gly Missense 8/15 - 1
7-150648171-G-C c.1983C>G p.Ala661Ala Synonymous 8/15 - 1
7-150648171-G-A c.1983C>T p.Ala661Ala Synonymous 8/15 - 1
7-150648171-G-T c.1983C>A p.Ala661Ala Synonymous 8/15 - 1
7-150648172-G-A c.1982C>T p.Ala661Val Missense 8/15 - 1
7-150648172-GC-TG c.1981_1982delinsCA p.Ala661His Missense 8/15 - 1
7-150648173-C-G c.1981G>C p.Ala661Pro Missense 8/15 - 1
7-150648175-G-A c.1979C>T p.Ser660Leu Missense 8/15 - 2
7-150648176-A-G c.1978T>C p.Ser660Pro Missense 8/15 - 1
7-150648176-A-C c.1978T>G p.Ser660Ala Missense 8/15 - 1
7-150648177-C-A c.1977G>T p.Val659Val Synonymous 8/15 - 1
7-150648177-C-G c.1977G>C p.Val659Val Synonymous 8/15 - 1
7-150648177-C-T c.1977G>A p.Val659Val Synonymous 8/15 - 1
7-150648178-AC-CC c.1976delinsG p.Val659Gly Missense 8/15 - 1
7-150648178-A-G c.1976T>C p.Val659Ala Missense 8/15 - 6
7-150648181-TT-CC c.1972_1973delinsGG p.Asn658Gly Missense 8/15 - 1
7-150648181-TT-GC c.1972_1973delinsGC p.Asn658Ala Missense 8/15 - 4
7-150648185-C-G c.1969G>C p.Gly657Arg Missense 8/15 - 2
7-150648185-C-A c.1969G>T p.Gly657Cys Missense 8/15 - 1
7-150648185-C-T c.1969G>A p.Gly657Ser Missense 8/15 - 1
7-150648186-G-A c.1968C>T p.Phe656Phe Synonymous 8/15 - 1
7-150648186-GA-GG c.1967delinsC p.Phe656Ser Missense 8/15 - 2
7-150648186-GA-AA c.1968delinsT p.Phe656Phe Nonsense 8/15 - 2
7-150648186-GAA-ATG c.1966_1968delinsCAT p.Phe656His Missense 8/15 - 4
7-150648187-AA-GC c.1966_1967delinsGC p.Phe656Ala Missense 8/15 - 24
7-150648187-AA-AC c.1966delinsG p.Phe656Val Missense 8/15 - 10
7-150648187-A-C c.1967T>G p.Phe656Cys Missense 8/15 - 13
7-150648187-AA-CC c.1966_1967delinsGG p.Phe656Gly Missense 8/15 - 1
7-150648186-G-C c.1968C>G p.Phe656Leu Missense 8/15 - 1
7-150648186-G-T c.1968C>A p.Phe656Leu Missense 8/15 - 1
7-150648188-A-C c.1966T>G p.Phe656Val Missense 8/15 - 6
7-150648188-A-T c.1966T>A p.Phe656Ile Missense 8/15 - 2
7-150648188-A-G c.1966T>C p.Phe656Leu Missense 8/15 - 1
7-150648189-G-T c.1965C>A p.Ile655Ile Synonymous 8/15 - 1
7-150648189-G-A c.1965C>T p.Ile655Ile Synonymous 8/15 - 1
7-150648190-AT-CC c.1963_1964delinsGG p.Ile655Gly Missense 8/15 - 1
7-150648190-AT-GC c.1963_1964delinsGC p.Ile655Ala Missense 8/15 - 2
7-150648191-T-A c.1963A>T p.Ile655Phe Missense 8/15 - 2
7-150648192-G-A c.1962C>T p.Ser654Ser Synonymous 8/15 - 1
7-150648193-CT-GC c.1960_1961delinsGC p.Ser654Ala Missense 8/15 - 1
7-150648194-T-A c.1960A>T p.Ser654Cys Missense 8/15 - 1
7-150648194-T-C c.1960A>G p.Ser654Gly Missense 8/15 - 2
7-150648195-A-G c.1959T>C p.Ala653Ala Synonymous 8/15 - 1
7-150648195-A-C c.1959T>G p.Ala653Ala Synonymous 8/15 - 1
7-150648195-A-T c.1959T>A p.Ala653Ala Synonymous 8/15 - 1
7-150648195-AGC-TGG c.1957_1959delinsCCA p.Ala653Pro Missense 8/15 - 1
7-150648195-AGC-AAG c.1957_1958delinsCT p.Ala653Leu Missense 8/15 - 1
7-150648195-AGC-ATG c.1957_1958delinsCA p.Ala653His Missense 8/15 - 1
7-150648196-G-A c.1958C>T p.Ala653Val Missense 8/15 - 2
7-150648196-G-T c.1958C>A p.Ala653Asp Missense 8/15 - 1
7-150648196-GC-CG c.1957_1958delinsCG p.Ala653Arg Missense 8/15 - 1
7-150648196-GC-AT c.1957_1958delinsAT p.Ala653Ile Missense 8/15 - 2
7-150648196-GC-TG c.1957_1958delinsCA p.Ala653His Missense 8/15 - 2
7-150648196-GC-TA c.1957_1958delinsTA p.Ala653Tyr Missense 8/15 - 1
7-150648196-G-C c.1958C>G p.Ala653Gly Missense 8/15 - 2
7-150648197-C-A c.1957G>T p.Ala653Ser Missense 8/15 - 1
7-150648197-C-T c.1957G>A p.Ala653Thr Missense 8/15 - 2
7-150648198-A-C c.1956T>G p.Tyr652* Nonsense 8/15 - 6
7-150648198-A-G c.1956T>C p.Tyr652Tyr Synonymous 8/15 - 5
7-150648198-A-T c.1956T>A p.Tyr652* Nonsense 8/15 - 6
7-150648198-AT-GG c.1955_1956delinsCC p.Tyr652Ser Missense 8/15 - 3
7-150648199-T-G c.1955A>C p.Tyr652Ser Missense 8/15 - 1
7-150648199-T-A c.1955A>T p.Tyr652Phe Missense 8/15 - 5
7-150648199-T-C c.1955A>G p.Tyr652Cys Missense 8/15 - 2
7-150648199-TA-GC c.1954_1955delinsGC p.Tyr652Ala Missense 8/15 - 40
7-150648199-TA-AC c.1954_1955delinsGT p.Tyr652Val Missense 8/15 - 1
7-150648201-CAT-TAT c.1953delinsA p.Met651Ile Missense 8/15 - 2
7-150648202-A-G c.1952T>C p.Met651Thr Missense 8/15 - 3
7-150648202-AT-GC c.1951_1952delinsGC p.Met651Ala Missense 8/15 - 1
7-150648202-A-C c.1952T>G p.Met651Arg Missense 8/15 - 2
7-150648202-AT-TA c.1951_1952delinsTA p.Met651* Nonsense 8/15 - 1
7-150648205-AG-GC c.1948_1949delinsGC p.Leu650Ala Missense 8/15 - 2
7-150648536-A-G c.1945T>C p.Ser649Pro Missense 7/15 - 1
7-150648538-C-G c.1943G>C p.Gly648Ala Missense 7/15 - 10
7-150648539-C-T c.1942G>A p.Gly648Ser Missense 7/15 - 2
7-150648544-AG-GC c.1936_1937delinsGC p.Leu646Ala Missense 7/15 - 2
7-150648544-AG-AA c.1936delinsT p.Leu646Phe Missense 7/15 - 1
7-150648546-CAT-TGT c.1934_1935delinsCA p.Met645Thr Missense 7/15 - 5
7-150648546-C-G c.1935G>C p.Met645Ile Missense 7/15 - 1
7-150648546-C-A c.1935G>T p.Met645Ile Missense 7/15 - 1
7-150648546-C-T c.1935G>A p.Met645Ile Missense 7/15 - 1
7-150648548-T-G c.1933A>C p.Met645Leu Missense 7/15 - 1
7-150648548-T-C c.1933A>G p.Met645Val Missense 7/15 - 1
7-150648548-T-A c.1933A>T p.Met645Leu Missense 7/15 - 1
7-150648550-A-G c.1931T>C p.Val644Ala Missense 7/15 - 1
7-150648551-C-G c.1930G>C p.Val644Leu Missense 7/15 - 3
7-150648551-C-A c.1930G>T p.Val644Phe Missense 7/15 - 3
7-150648553-CA-GC c.1927_1928delinsGC p.Cys643Ala Missense 7/15 - 3
7-150648555-G-C c.1926C>G p.Ile642Met Missense 7/15 - 1
7-150648556-A-C c.1925T>G p.Ile642Ser Missense 7/15 - 1
7-150648557-T-C c.1924A>G p.Ile642Val Missense 7/15 - 1
7-150648559-G-C c.1922C>G p.Ser641Cys Missense 7/15 - 2
7-150648559-G-A c.1922C>T p.Ser641Phe Missense 7/15 - 1
7-150648560-A-C c.1921T>G p.Ser641Ala Missense 7/15 - 5
7-150648563-A-C c.1918T>G p.Phe640Val Missense 7/15 - 4
7-150648561-G-C c.1920C>G p.Phe640Leu Missense 7/15 - 3
7-150648561-G-T c.1920C>A p.Phe640Leu Missense 7/15 - 3
7-150648565-AT-GC c.1915_1916delinsGC p.Ile639Ala Missense 7/15 - 2
7-150648567-C-G c.1914G>C p.Lys638Asn Missense 7/15 - 1
7-150648567-C-A c.1914G>T p.Lys638Asn Missense 7/15 - 1
7-150648567-CTT-TGT c.1913_1914delinsCA p.Lys638Thr Missense 7/15 - 2
7-150648569-T-C c.1912A>G p.Lys638Glu Missense 7/15 - 2
7-150648569-TTCT-T c.1913_1915del p.Lys638del InFrameDeletion 7/15 - 1
7-150648570-C-G c.1911G>C p.Glu637Asp Missense 7/15 - 1
7-150648570-C-A c.1911G>T p.Glu637Asp Missense 7/15 - 1
7-150648570-CTC-TGT c.1909_1911delinsACA p.Glu637Thr Missense 7/15 - 1
7-150648571-T-G c.1910A>C p.Glu637Ala Missense 7/15 - 1
7-150648571-T-C c.1910A>G p.Glu637Gly Missense 7/15 - 1
7-150648571-TC-AG c.1909_1910delinsCT p.Glu637Leu Missense 7/15 - 1
7-150648572-C-T c.1909G>A p.Glu637Lys Missense 7/15 - 10
7-150648572-C-G c.1909G>C p.Glu637Gln Missense 7/15 - 1
7-150648573-TG-GT c.1907_1908delinsAC p.Ser636Tyr Missense 7/15 - 1
7-150648575-A-C c.1906T>G p.Ser636Ala Missense 7/15 - 2
7-150648576-G-T c.1905C>A p.Asn635Lys Missense 7/15 - 1
7-150648576-G-C c.1905C>G p.Asn635Lys Missense 7/15 - 1
7-150648577-TT-TG c.1903delinsC p.Asn635His Missense 7/15 - 1
7-150648577-T-A c.1904A>T p.Asn635Ile Missense 7/15 - 1
7-150648578-T-C c.1903A>G p.Asn635Asp Missense 7/15 - 1
7-150648580-GT-TG c.1900_1901delinsCA p.Thr634His Missense 7/15 - 1
7-150648580-G-A c.1901C>T p.Thr634Ile Missense 7/15 - 2
7-150648580-G-C c.1901C>G p.Thr634Ser Missense 7/15 - 1
7-150648581-T-A c.1900A>T p.Thr634Ser Missense 7/15 - 1
7-150648581-T-C c.1900A>G p.Thr634Ala Missense 7/15 - 2
7-150648582-G-C c.1899C>G p.Asn633Lys Missense 7/15 - 1
7-150648582-G-T c.1899C>A p.Asn633Lys Missense 7/15 - 1
7-150648583-T-C c.1898A>G p.Asn633Ser Missense 7/15 - 5
7-150648583-T-A c.1898A>T p.Asn633Ile Missense 7/15 - 1
7-150648583-TT-TG c.1897delinsC p.Asn633His Missense 7/15 - 2
7-150648584-T-C c.1897A>G p.Asn633Asp Missense 7/15 - 1
7-150648586-GG-TG c.1895delinsA p.Pro632His Missense 7/15 - 1
7-150648587-G-C c.1894C>G p.Pro632Ala Missense 7/15 - 1
7-150648587-G-A c.1894C>T p.Pro632Ser Missense 7/15 - 1
7-150648588-AGA-AAG c.1891_1892delinsCT p.Ser631Leu Missense 7/15 - 2
7-150648588-AGA-GAG c.1891_1893delinsCTC p.Ser631Leu Missense 7/15 - 2
7-150648589-G-C c.1892C>G p.Ser631Cys Missense 7/15 - 14
7-150648590-A-C c.1891T>G p.Ser631Ala Missense 7/15 - 49
7-150648592-A-G c.1889T>C p.Val630Ala Missense 7/15 - 3
7-150648593-C-G c.1888G>C p.Val630Leu Missense 7/15 - 3
7-150648593-C-T c.1888G>A p.Val630Ile Missense 7/15 - 1
7-150648594-G-C c.1887C>G p.Asn629Lys Missense 7/15 - 1
7-150648594-G-T c.1887C>A p.Asn629Lys Missense 7/15 - 1
7-150648595-TT-GC c.1885_1886delinsGC p.Asn629Ala Missense 7/15 - 1
7-150648595-T-C c.1886A>G p.Asn629Ser Missense 7/15 - 6
7-150648595-T-G c.1886A>C p.Asn629Thr Missense 7/15 - 1
7-150648595-T-A c.1886A>T p.Asn629Ile Missense 7/15 - 1
7-150648596-T-C c.1885A>G p.Asn629Asp Missense 7/15 - 16
7-150648598-C-T c.1883G>A p.Gly628Asp Missense 7/15 - 1
7-150648598-C-G c.1883G>C p.Gly628Ala Missense 7/15 - 1
7-150648598-GCCG-G c.1882_1884del p.Gly628del InFrameDeletion 7/15 - 1
7-150648599-C-A c.1882G>T p.Gly628Cys Missense 7/15 - 20
7-150648599-C-T c.1882G>A p.Gly628Ser Missense 7/15 - 56
7-150648601-A-T c.1880T>A p.Phe627Tyr Missense 7/15 - 6
7-150648601-AA-GC c.1879_1880delinsGC p.Phe627Ala Missense 7/15 - 1
7-150648602-A-G c.1879T>C p.Phe627Leu Missense 7/15 - 3
7-150648600-G-T c.1881C>A p.Phe627Leu Missense 7/15 - 3
7-150648600-G-C c.1881C>G p.Phe627Leu Missense 7/15 - 3
7-150648602-A-T c.1879T>A p.Phe627Ile Missense 7/15 - 1
7-150648604-C-A c.1877G>T p.Gly626Val Missense 7/15 - 2
7-150648604-C-G c.1877G>C p.Gly626Ala Missense 7/15 - 5
7-150648604-C-T c.1877G>A p.Gly626Asp Missense 7/15 - 2
7-150648605-C-T c.1876G>A p.Gly626Ser Missense 7/15 - 2
7-150648606-CAC-TTT c.1873_1875delinsAAA p.Val625Lys Missense 7/15 - 1
7-150648607-A-G c.1874T>C p.Val625Ala Missense 7/15 - 10
7-150648607-A-T c.1874T>A p.Val625Glu Missense 7/15 - 2
7-150648611-T-G c.1870A>C p.Ser624Arg Missense 7/15 - 1
7-150648609-A-C c.1872T>G p.Ser624Arg Missense 7/15 - 1
7-150648609-A-T c.1872T>A p.Ser624Arg Missense 7/15 - 1
7-150648610-C-G c.1871G>C p.Ser624Thr Missense 7/15 - 4
7-150648610-CT-GC c.1870_1871delinsGC p.Ser624Ala Missense 7/15 - 18
7-150648613-G-A c.1868C>T p.Thr623Ile Missense 7/15 - 3
7-150648614-T-C c.1867A>G p.Thr623Ala Missense 7/15 - 14
7-150648616-AG-GC c.1864_1865delinsGC p.Leu622Ala Missense 7/15 - 1
7-150648616-AG-TG c.1865delinsA p.Leu622His Missense 7/15 - 7
7-150648617-G-C c.1864C>G p.Leu622Val Missense 7/15 - 1
7-150648617-G-A c.1864C>T p.Leu622Phe Missense 7/15 - 1
7-150648619-C-A c.1862G>T p.Ser621Ile Missense 7/15 - 1
7-150648619-C-T c.1862G>A p.Ser621Asn Missense 7/15 - 2
7-150648619-CT-GC c.1861_1862delinsGC p.Ser621Ala Missense 7/15 - 1
7-150648620-T-G c.1861A>C p.Ser621Arg Missense 7/15 - 2
7-150648622-CT-GC c.1858_1859delinsGC p.Ser620Ala Missense 7/15 - 1
7-150648622-C-G c.1859G>C p.Ser620Thr Missense 7/15 - 30
7-150648622-C-T c.1859G>A p.Ser620Asn Missense 7/15 - 1
7-150648623-T-A c.1858A>T p.Ser620Cys Missense 7/15 - 1
7-150648623-T-C c.1858A>G p.Ser620Gly Missense 7/15 - 2
7-150648625-AA-AC c.1855delinsG p.Phe619Val Missense 7/15 - 1
7-150648625-AA-GC c.1855_1856delinsGC p.Phe619Ala Missense 7/15 - 6
7-150648625-A-T c.1856T>A p.Phe619Tyr Missense 7/15 - 1
7-150648626-A-C c.1855T>G p.Phe619Val Missense 7/15 - 1
7-150648629-T-A c.1852A>T p.Thr618Ser Missense 7/15 - 3
7-150648628-G-A c.1853C>T p.Thr618Ile Missense 7/15 - 17
7-150648628-G-C c.1853C>G p.Thr618Ser Missense 7/15 - 3
7-150648628-GT-TG c.1852_1853delinsCA p.Thr618His Missense 7/15 - 1
7-150648628-GT-CT c.1853delinsG p.Thr618Ser Missense 7/15 - 1
7-150648629-T-C c.1852A>G p.Thr618Ala Missense 7/15 - 7
7-150648631-AA-GC c.1849_1850delinsGC p.Phe617Ala Missense 7/15 - 1
7-150648632-A-G c.1849T>C p.Phe617Leu Missense 7/15 - 3
7-150648632-A-C c.1849T>G p.Phe617Val Missense 7/15 - 1
7-150648634-TA-GC c.1846_1847delinsGC p.Tyr616Ala Missense 7/15 - 1
7-150648634-T-C c.1847A>G p.Tyr616Cys Missense 7/15 - 2
7-150648636-GAG-ATG c.1844_1845delinsAT p.Leu615His Missense 7/15 - 1
7-150648638-G-C c.1843C>G p.Leu615Val Missense 7/15 - 2
7-150648638-G-A c.1843C>T p.Leu615Phe Missense 7/15 - 1
7-150648640-G-A c.1841C>T p.Ala614Val Missense 7/15 - 49
7-150648642-CGT-TGT c.1839delinsA p.Thr613Thr Missense 7/15 - 4
7-150648643-G-T c.1838C>A p.Thr613Lys Missense 7/15 - 2
7-150648643-G-A c.1838C>T p.Thr613Met Missense 7/15 - 11
7-150648644-T-C c.1837A>G p.Thr613Ala Missense 7/15 - 2
7-150648645-CAC-TGT c.1834_1836delinsACA p.Val612Thr Missense 7/15 - 1
7-150648647-C-A c.1834G>T p.Val612Leu Missense 7/15 - 5
7-150648647-C-T c.1834G>A p.Val612Met Missense 7/15 - 1
7-150648647-C-G c.1834G>C p.Val612Leu Missense 7/15 - 5
7-150648649-TA-GC c.1831_1832delinsGC p.Tyr611Ala Missense 7/15 - 1
7-150648649-T-C c.1832A>G p.Tyr611Cys Missense 7/15 - 1
7-150648650-A-C c.1831T>G p.Tyr611Asp Missense 7/15 - 2
7-150648650-A-G c.1831T>C p.Tyr611His Missense 7/15 - 10
7-150648651-CTT-TGT c.1829_1830delinsCA p.Lys610Thr Missense 7/15 - 2
7-150648651-C-A c.1830G>T p.Lys610Asn Missense 7/15 - 1
7-150648651-C-G c.1830G>C p.Lys610Asn Missense 7/15 - 1
7-150648655-T-G c.1826A>C p.Asp609Ala Missense 7/15 - 2
7-150648655-T-C c.1826A>G p.Asp609Gly Missense 7/15 - 1
7-150648655-TC-TG c.1825delinsC p.Asp609His Missense 7/15 - 2
7-150648656-C-T c.1825G>A p.Asp609Asn Missense 7/15 - 3
7-150648656-C-A c.1825G>T p.Asp609Tyr Missense 7/15 - 1
7-150648656-C-G c.1825G>C p.Asp609His Missense 7/15 - 1
7-150648657-CTT-TGT c.1823_1824delinsCA p.Lys608Thr Missense 7/15 - 2
7-150648661-AT-TG c.1819_1820delinsCA p.Ile607His Missense 7/15 - 1
7-150648664-G-C c.1817C>G p.Ser606Cys Missense 7/15 - 1
7-150648664-G-A c.1817C>T p.Ser606Phe Missense 7/15 - 1
7-150648665-A-G c.1816T>C p.Ser606Pro Missense 7/15 - 2
7-150648667-GG-TG c.1814delinsA p.Pro605His Missense 7/15 - 2
7-150648668-G-A c.1813C>T p.Pro605Ser Missense 7/15 - 1
7-150648670-C-T c.1811G>A p.Gly604Asp Missense 7/15 - 2
7-150648671-C-T c.1810G>A p.Gly604Ser Missense 7/15 - 10
7-150648673-C-T c.1808G>A p.Gly603Asp Missense 7/15 - 2
7-150648673-C-G c.1808G>C p.Gly603Ala Missense 7/15 - 1
7-150648674-C-A c.1807G>T p.Gly603Cys Missense 7/15 - 1
7-150648675-CAG-TGT c.1804_1806delinsACA p.Leu602Thr Missense 7/15 - 1
7-150648680-C-T c.1801G>A p.Gly601Ser Missense 7/15 - 35
7-150648680-C-A c.1801G>T p.Gly601Cys Missense 7/15 - 1
7-150648683-T-A c.1798A>T p.Ser600Cys Missense 7/15 - 1
7-150648685-C-G c.1796G>C p.Ser599Thr Missense 7/15 - 1
7-150648686-T-A c.1795A>T p.Ser599Cys Missense 7/15 - 2
7-150648687-GTT-CAA c.1792_1794delinsTTG p.Asn598Leu Missense 7/15 - 3
7-150648688-TT-TG c.1792delinsC p.Asn598His Missense 7/15 - 1
7-150648691-T-C c.1790A>G p.Tyr597Cys Missense 7/15 - 4
7-150648694-G-T c.1787C>A p.Pro596His Missense 7/15 - 1
7-150648694-G-A c.1787C>T p.Pro596Leu Missense 7/15 - 1
7-150648694-G-C c.1787C>G p.Pro596Arg Missense 7/15 - 3
7-150648694-GG-TG c.1787delinsA p.Pro596His Missense 7/15 - 3
7-150648695-G-T c.1786C>A p.Pro596Thr Missense 7/15 - 1
7-150648695-G-A c.1786C>T p.Pro596Ser Missense 7/15 - 1
7-150648695-G-C c.1786C>G p.Pro596Ala Missense 7/15 - 1
7-150648696-T-G c.1785A>C p.Lys595Asn Missense 7/15 - 2
7-150648696-TTT-TGT c.1784delinsC p.Lys595Thr Missense 7/15 - 3
7-150648696-T-A c.1785A>T p.Lys595Asn Missense 7/15 - 2
7-150648698-T-C c.1783A>G p.Lys595Glu Missense 7/15 - 1
7-150648700-C-T c.1781G>A p.Gly594Asp Missense 7/15 - 1
7-150648701-C-A c.1780G>T p.Gly594Cys Missense 7/15 - 2
7-150648703-A-C c.1778T>G p.Ile593Arg Missense 7/15 - 7
7-150648703-A-G c.1778T>C p.Ile593Thr Missense 7/15 - 2
7-150648703-A-T c.1778T>A p.Ile593Lys Missense 7/15 - 2
7-150648704-T-C c.1777A>G p.Ile593Val Missense 7/15 - 1
7-150648705-CTG-TGT c.1774_1776delinsACA p.Gln592Thr Missense 7/15 - 3
7-150648706-T-C c.1775A>G p.Gln592Arg Missense 7/15 - 1
7-150648707-G-T c.1774C>A p.Gln592Lys Missense 7/15 - 1
7-150648708-GTC-CAA c.1771_1773delinsTTG p.Asp591Leu Missense 7/15 - 1
7-150648708-GTC-AAG c.1771_1773delinsCTT p.Asp591Leu Missense 7/15 - 3
7-150648709-TC-TG c.1771delinsC p.Asp591His Missense 7/15 - 3
7-150648709-TC-CG c.1771_1772delinsCG p.Asp591Arg Missense 7/15 - 1
7-150648709-T-G c.1772A>C p.Asp591Ala Missense 7/15 - 2
7-150648712-C-A c.1769G>T p.Gly590Val Missense 7/15 - 1
7-150648713-C-A c.1768G>T p.Gly590Cys Missense 7/15 - 2
7-150648714-CAG-TGT c.1765_1767delinsACA p.Leu589Thr Missense 7/15 - 3
7-150648717-GTT-GAG c.1762_1763delinsCT p.Asn588Leu Missense 7/15 - 5
7-150648717-G-C c.1764C>G p.Asn588Lys Missense 7/15 - 76
7-150648717-G-T c.1764C>A p.Asn588Lys Missense 7/15 - 75
7-150648718-TT-TG c.1762delinsC p.Asn588His Missense 7/15 - 3
7-150648719-T-C c.1762A>G p.Asn588Asp Missense 7/15 - 7
7-150648720-GTG-AAG c.1760_1761delinsTT p.His587Leu Missense 7/15 - 1
7-150648721-TG-GC c.1759_1760delinsGC p.His587Ala Missense 7/15 - 1
7-150648722-G-C c.1759C>G p.His587Asp Missense 7/15 - 1
7-150648722-G-A c.1759C>T p.His587Tyr Missense 7/15 - 2
7-150648722-G-T c.1759C>A p.His587Asn Missense 7/15 - 1
7-150648723-CAG-TGT c.1756_1758delinsACA p.Leu586Thr Missense 7/15 - 2
7-150648724-A-G c.1757T>C p.Leu586Pro Missense 7/15 - 1
7-150648724-AG-TG c.1757delinsA p.Leu586Gln Missense 7/15 - 1
7-150648725-G-C c.1756C>G p.Leu586Val Missense 7/15 - 1
7-150648725-G-T c.1756C>A p.Leu586Met Missense 7/15 - 1
7-150648726-C-A c.1755G>T p.Trp585Cys Missense 7/15 - 4
7-150648726-C-G c.1755G>C p.Trp585Cys Missense 7/15 - 4
7-150648731-C-A c.1750G>T p.Gly584Cys Missense 7/15 - 3
7-150648731-C-T c.1750G>A p.Gly584Ser Missense 7/15 - 10
7-150648733-AT-TG c.1747_1748delinsCA p.Ile583His Missense 7/15 - 3
7-150648734-T-C c.1747A>G p.Ile583Val Missense 7/15 - 1
7-150648737-G-A c.1744C>T p.Arg582Cys Missense 7/15 - 5
7-150648738-TG-GT c.1742_1743delinsAC p.Ser581Tyr Missense 7/15 - 1
7-150648742-TC-TG c.1738delinsC p.Asp580His Missense 7/15 - 1
7-150648742-T-G c.1739A>C p.Asp580Ala Missense 7/15 - 3
7-150648743-C-T c.1738G>A p.Asp580Asn Missense 7/15 - 1
7-150648744-CAT-TGT c.1736_1737delinsCA p.Met579Thr Missense 7/15 - 1
7-150648747-GTG-AAG c.1733_1734delinsTT p.His578Leu Missense 7/15 - 1
7-150648748-TG-GC c.1732_1733delinsGC p.His578Ala Missense 7/15 - 1
7-150648749-G-C c.1732C>G p.His578Asp Missense 7/15 - 2
7-150648749-G-T c.1732C>A p.His578Asn Missense 7/15 - 1
7-150648750-TGG-TGT c.1729delinsA p.Pro577Thr Missense 7/15 - 1
7-150648753-CTG-TGT c.1726_1728delinsACA p.Gln576Thr Missense 7/15 - 1
7-150648756-CTC-TGT c.1723_1725delinsACA p.Glu575Thr Missense 7/15 - 1
7-150648757-T-C c.1724A>G p.Glu575Gly Missense 7/15 - 1
7-150648757-T-G c.1724A>C p.Glu575Ala Missense 7/15 - 3
7-150648758-C-T c.1723G>A p.Glu575Lys Missense 7/15 - 1
7-150648758-C-G c.1723G>C p.Glu575Gln Missense 7/15 - 1
7-150648759-CAT-TGT c.1721_1722delinsCA p.Met574Thr Missense 7/15 - 1
7-150648760-A-C c.1721T>G p.Met574Arg Missense 7/15 - 1
7-150648761-T-C c.1720A>G p.Met574Val Missense 7/15 - 1
7-150648763-TT-TG c.1717delinsC p.Asn573His Missense 7/15 - 2
7-150648766-C-T c.1715G>A p.Gly572Asp Missense 7/15 - 1
7-150648766-C-A c.1715G>T p.Gly572Val Missense 7/15 - 2
7-150648767-C-T c.1714G>A p.Gly572Ser Missense 7/15 - 9
7-150648767-C-G c.1714G>C p.Gly572Arg Missense 7/15 - 10
7-150648767-C-A c.1714G>T p.Gly572Cys Missense 7/15 - 4
7-150648768-G-C c.1713C>G p.Ile571Met Missense 7/15 - 1
7-150648769-AT-TG c.1711_1712delinsCA p.Ile571His Missense 7/15 - 1
7-150648770-T-G c.1711A>C p.Ile571Leu Missense 7/15 - 3
7-150648772-G-A c.1709C>T p.Ala570Val Missense 7/15 - 1
7-150648775-TA-GC c.1705_1706delinsGC p.Tyr569Ala Missense 7/15 - 2
7-150648775-T-C c.1706A>G p.Tyr569Cys Missense 7/15 - 2
7-150648776-A-G c.1705T>C p.Tyr569His Missense 7/15 - 2
7-150648777-C-A c.1704G>T p.Trp568Cys Missense 7/15 - 1
7-150648777-CCA-ATC c.1702_1704delinsGAT p.Trp568Asp Missense 7/15 - 1
7-150648777-C-G c.1704G>C p.Trp568Cys Missense 7/15 - 1
7-150648777-CC-TT c.1703_1704delinsAA p.Trp568* Missense 7/15 - 1
7-150648778-CA-GC c.1702_1703delinsGC p.Trp568Ala Missense 7/15 - 1
7-150648778-C-A c.1703G>T p.Trp568Leu Missense 7/15 - 2
7-150648779-A-G c.1702T>C p.Trp568Arg Missense 7/15 - 1
7-150648779-A-T c.1702T>A p.Trp568Arg Missense 7/15 - 1
7-150648781-A-G c.1700T>C p.Ile567Thr Missense 7/15 - 1
7-150648781-AT-GC c.1699_1700delinsGC p.Ile567Ala Missense 7/15 - 4
7-150648784-CA-GC c.1696_1697delinsGC p.Cys566Ala Missense 7/15 - 4
7-150648784-C-A c.1697G>T p.Cys566Phe Missense 7/15 - 1
7-150648784-C-G c.1697G>C p.Cys566Ser Missense 7/15 - 1
7-150648785-A-T c.1696T>A p.Cys566Ser Missense 7/15 - 1
7-150648788-C-T c.1693G>A p.Ala565Thr Missense 7/15 - 1
7-150648789-T-C c.1692A>G p.Leu564Leu Synonymous 7/15 - 2
7-150648790-AG-GC c.1690_1691delinsGC p.Leu564Ala Missense 7/15 - 3
7-150648790-A-G c.1691T>C p.Leu564Pro Missense 7/15 - 1
7-150648792-C-G c.1689G>C p.Trp563Cys Missense 7/15 - 1
7-150648792-C-A c.1689G>T p.Trp563Cys Missense 7/15 - 1
7-150648793-C-T c.1688G>A p.Trp563* Nonsense 7/15 - 2
7-150648793-CA-GC c.1687_1688delinsGC p.Trp563Ala Missense 7/15 - 2
7-150648794-A-C c.1687T>G p.Trp563Gly Missense 7/15 - 1
7-150648795-GTG-GAG c.1685delinsT p.His562Leu Missense 7/15 - 1
7-150648795-GTG-TGG c.1685_1686delinsCA p.His562Pro Missense 7/15 - 2
7-150648796-T-G c.1685A>C p.His562Pro Missense 7/15 - 4
7-150648796-TG-GC c.1684_1685delinsGC p.His562Ala Missense 7/15 - 3
7-150648796-T-C c.1685A>G p.His562Arg Missense 7/15 - 1
7-150648797-G-T c.1684C>A p.His562Asn Missense 7/15 - 1
7-150648799-G-A c.1682C>T p.Ala561Val Missense 7/15 - 28
7-150648799-G-C c.1682C>G p.Ala561Gly Missense 7/15 - 1
7-150648800-C-T c.1681G>A p.Ala561Thr Missense 7/15 - 18
7-150648800-C-G c.1681G>C p.Ala561Pro Missense 7/15 - 15
7-150648801-G-A c.1680C>T p.Ile560Ile Synonymous 7/15 - 1
7-150648801-G-C c.1680C>G p.Ile560Met Missense 7/15 - 1
7-150648802-AT-GC c.1678_1679delinsGC p.Ile560Ala Missense 7/15 - 5
7-150648802-A-G c.1679T>C p.Ile560Thr Missense 7/15 - 5
7-150648805-AG-GC c.1675_1676delinsGC p.Leu559Ala Missense 7/15 - 1
7-150648805-A-T c.1676T>A p.Leu559His Missense 7/15 - 1
7-150648808-G-T c.1673C>A p.Ala558Glu Missense 7/15 - 2
7-150648808-G-A c.1673C>T p.Ala558Val Missense 7/15 - 1
7-150648809-C-G c.1672G>C p.Ala558Pro Missense 7/15 - 11
7-150648811-AA-GC c.1669_1670delinsGC p.Phe557Ala Missense 7/15 - 1
7-150648810-A-C c.1671T>G p.Phe557Leu Missense 7/15 - 12
7-150648810-A-T c.1671T>A p.Phe557Leu Missense 7/15 - 12
7-150648812-A-G c.1669T>C p.Phe557Leu Missense 7/15 - 12
7-150648817-CA-GC c.1663_1664delinsGC p.Cys555Ala Missense 7/15 - 2
7-150648820-AT-GC c.1660_1661delinsGC p.Met554Ala Missense 7/15 - 2
7-150648823-AG-GC c.1657_1658delinsGC p.Leu553Ala Missense 7/15 - 4
7-150648826-A-G c.1655T>C p.Leu552Ser Missense 7/15 - 12
7-150648830-A-G c.1651T>C p.Phe551Leu Missense 7/15 - 1
7-150648828-G-C c.1653C>G p.Phe551Leu Missense 7/15 - 1
7-150648828-G-T c.1653C>A p.Phe551Leu Missense 7/15 - 1
7-150648832-AG-GC c.1648_1649delinsGC p.Leu550Ala Missense 7/15 - 2
7-150648835-A-G c.1646T>C p.Val549Ala Missense 7/15 - 3
7-150648838-G-A c.1643C>T p.Ala548Val Missense 7/15 - 2
7-150648841-G-A c.1640C>T p.Ala547Val Missense 7/15 - 3
7-150648844-C-G c.1637G>C p.Gly546Ala Missense 7/15 - 3
7-150648844-CC-CT c.1636delinsA p.Gly546Ser Missense 7/15 - 2
7-150648845-C-A c.1636G>T p.Gly546Cys Missense 7/15 - 3
7-150648847-T-A c.1634A>T p.Tyr545Phe Missense 7/15 - 1
7-150648847-TA-GC c.1633_1634delinsGC p.Tyr545Ala Missense 7/15 - 2
7-150648847-T-C c.1634A>G p.Tyr545Cys Missense 7/15 - 1
7-150648850-TC-CT c.1630_1631delinsAG p.Glu544Arg Missense 7/15 - 2
7-150648850-T-G c.1631A>C p.Glu544Ala Missense 7/15 - 3
7-150648854-A-C c.1627T>G p.Ser543Ala Missense 7/15 - 2
7-150648856-T-C c.1625A>G p.Tyr542Cys Missense 7/15 - 4
7-150648856-TA-GC c.1624_1625delinsGC p.Tyr542Ala Missense 7/15 - 2
7-150648859-CG-GC c.1621_1622delinsGC p.Arg541Ala Missense 7/15 - 4
7-150648859-C-T c.1622G>A p.Arg541His Missense 7/15 - 1
7-150648861-ATC-AAG c.1618_1619delinsCT p.Asp540Leu Missense 7/15 - 15
7-150648862-T-G c.1619A>C p.Asp540Ala Missense 7/15 - 7
7-150648862-TC-TG c.1618delinsC p.Asp540His Missense 7/15 - 2
7-150648862-TC-CG c.1618_1619delinsCG p.Asp540Arg Missense 7/15 - 1
7-150648865-AG-GC c.1615_1616delinsGC p.Leu539Ala Missense 7/15 - 1
7-150648865-CAGC-C c.1615_1617del p.Leu539del InFrameDeletion 7/15 - 1
7-150648865-AG-TG c.1616delinsA p.Leu539Gln Missense 7/15 - 1
7-150648867-CTT-TGT c.1613_1614delinsCA p.Lys538Thr Missense 7/15 - 1
7-150648867-CTT-GAC c.1612_1614delinsGTC p.Lys538Val Missense 7/15 - 1
7-150648868-T-C c.1613A>G p.Lys538Arg Missense 7/15 - 2
7-150648868-TT-TG c.1612delinsC p.Lys538Gln Missense 7/15 - 1
7-150648868-TT-GC c.1612_1613delinsGC p.Lys538Ala Missense 7/15 - 3
7-150648869-T-G c.1612A>C p.Lys538Gln Missense 7/15 - 3
7-150648870-CCG-TGT c.1609_1611delinsACA p.Arg537Thr Missense 7/15 - 1
7-150648871-C-T c.1610G>A p.Arg537Gln Missense 7/15 - 3
7-150648871-CG-AA c.1609_1610delinsTT p.Arg537Leu Missense 7/15 - 1
7-150648871-CG-GC c.1609_1610delinsGC p.Arg537Ala Missense 7/15 - 2
7-150648872-G-A c.1609C>T p.Arg537Trp Missense 7/15 - 3
7-150648874-GC-TG c.1606_1607delinsCA p.Ala536Gln Missense 7/15 - 2
7-150648874-G-A c.1607C>T p.Ala536Val Missense 7/15 - 1
7-150648877-A-G c.1604T>C p.Val535Ala Missense 7/15 - 4
7-150648877-AC-TC c.1604delinsA p.Val535Glu Missense 7/15 - 2
7-150648877-AC-TG c.1603_1604delinsCA p.Val535Gln Missense 7/15 - 1
7-150648879-GCG-TGG c.1601_1602delinsCA p.Arg534Pro Missense 7/15 - 1
7-150648879-GC-AA c.1601_1602delinsTT p.Arg534Leu Missense 7/15 - 2
7-150648880-C-A c.1601G>T p.Arg534Leu Missense 7/15 - 1
7-150648881-G-A c.1600C>T p.Arg534Cys Missense 7/15 - 9
7-150648883-AC-TG c.1597_1598delinsCA p.Val533Gln Missense 7/15 - 1
7-150648886-A-G c.1595T>C p.Leu532Pro Missense 7/15 - 5
7-150648886-AG-TG c.1595delinsA p.Leu532Gln Missense 7/15 - 1
7-150648886-AG-TC c.1594_1595delinsGA p.Leu532Glu Missense 7/15 - 2
7-150648888-CCG-TGT c.1591_1593delinsACA p.Arg531Thr Missense 7/15 - 2
7-150648889-CG-GC c.1591_1592delinsGC p.Arg531Ala Missense 7/15 - 2
7-150648889-C-T c.1592G>A p.Arg531Gln Missense 7/15 - 4
7-150648890-G-A c.1591C>T p.Arg531Trp Missense 7/15 - 3
7-150648892-AG-TG c.1589delinsA p.Leu530Gln Missense 7/15 - 1
7-150648892-AG-TC c.1588_1589delinsGA p.Leu530Glu Missense 7/15 - 2
7-150648893-G-A c.1588C>T p.Leu530Leu Synonymous 7/15 - 1
7-150648896-G-A c.1585C>T p.Leu529Leu Synonymous 7/15 - 1
7-150648894-CAG-ATC c.1585_1587delinsGAT p.Leu529Asp Missense 7/15 - 3
7-150648894-C-T c.1587G>A p.Leu529Leu Synonymous 7/15 - 1
7-150648894-C-G c.1587G>C p.Leu529Leu Synonymous 7/15 - 1
7-150648894-C-A c.1587G>T p.Leu529Leu Synonymous 7/15 - 1
7-150648895-AG-TC c.1585_1586delinsGA p.Leu529Glu Missense 7/15 - 2
7-150648895-AG-TG c.1586delinsA p.Leu529Gln Missense 7/15 - 1
7-150648895-AG-GC c.1585_1586delinsGC p.Leu529Ala Missense 7/15 - 1
7-150648897-CCG-TGT c.1582_1584delinsACA p.Arg528Thr Missense 7/15 - 2
7-150648897-CC-AT c.1583_1584delinsAT p.Arg528His Missense 7/15 - 1
7-150648897-CCG-GAC c.1582_1584delinsGTC p.Arg528Val Missense 7/15 - 1
7-150648898-C-T c.1583G>A p.Arg528Gln Missense 7/15 - 3
7-150648898-C-G c.1583G>C p.Arg528Pro Missense 7/15 - 2
7-150648899-G-A c.1582C>T p.Arg528Trp Missense 7/15 - 1
7-150648901-GC-TG c.1579_1580delinsCA p.Ala527Gln Missense 7/15 - 1
7-150648903-AGT-TGG c.1576_1578delinsCCA p.Thr526Pro Missense 7/15 - 1
7-150648906-C-G c.1575G>C p.Lys525Asn Missense 7/15 - 3
7-150648906-C-A c.1575G>T p.Lys525Asn Missense 7/15 - 3
7-150648906-CTT-TGT c.1574_1575delinsCA p.Lys525Thr Missense 7/15 - 3
7-150648907-TT-GC c.1573_1574delinsGC p.Lys525Ala Missense 7/15 - 2
7-150648907-T-C c.1574A>G p.Lys525Arg Missense 7/15 - 1
7-150648907-TT-TG c.1573delinsC p.Lys525Gln Missense 7/15 - 1
7-150648908-T-G c.1573A>C p.Lys525Gln Missense 7/15 - 4
7-150648910-AG-TG c.1571delinsA p.Leu524Gln Missense 7/15 - 1
7-150648916-C-G c.1565G>C p.Gly522Ala Missense 7/15 - 1
7-150648917-C-G c.1564G>C p.Gly522Arg Missense 7/15 - 1
7-150648917-C-T c.1564G>A p.Gly522Arg Missense 7/15 - 1
7-150648919-AT-TG c.1561_1562delinsCA p.Ile521His Missense 7/15 - 4
7-150648919-AT-GC c.1561_1562delinsGC p.Ile521Ala Missense 7/15 - 1
7-150648921-CAG-TGT c.1558_1560delinsACA p.Leu520Thr Missense 7/15 - 5
7-150648924-C-G c.1558-1G>C - IntronicSNV - 6/14 1
7-150648986-G-C c.1558-63C>G - IntronicSNV - 6/14 1
7-150649513-CTC-TGT c.1555_1557delinsACA p.Glu519Thr Missense 6/15 - 5
7-150649514-T-G c.1556A>C p.Glu519Ala Missense 6/15 - 4
7-150649516-CTC-TGT c.1552_1554delinsACA p.Glu518Thr Missense 6/15 - 4
7-150649517-T-G c.1553A>C p.Glu518Ala Missense 6/15 - 4
7-150649524-C-A c.1546G>T p.Gly516Cys Missense 6/15 - 2
7-150649529-C-G c.1541G>C p.Gly514Ala Missense 6/15 - 3
7-150649531-G-A c.1539C>T p.Phe513Phe Synonymous 6/15 - 6
7-150649541-AG-GC c.1528_1529delinsGC p.Leu510Ala Missense 6/15 - 1
7-150649544-T-G c.1526A>C p.Asp509Ala Missense 6/15 - 4
7-150649544-TC-TG c.1525delinsC p.Asp509His Missense 6/15 - 4
7-150649547-GAAG-G c.1522_1524del p.Phe508del InFrameDeletion 6/15 - 2
7-150649550-G-A c.1520C>T p.Pro507Leu Missense 6/15 - 1
7-150649566-T-G c.1504A>C p.Met502Leu Missense 6/15 - 1
7-150649567-G-T c.1503C>A p.Asp501Glu Missense 6/15 - 1
7-150649567-G-C c.1503C>G p.Asp501Glu Missense 6/15 - 1
7-150649568-TC-TG c.1501delinsC p.Asp501His Missense 6/15 - 1
7-150649568-T-G c.1502A>C p.Asp501Ala Missense 6/15 - 2
7-150649568-T-C c.1502A>G p.Asp501Gly Missense 6/15 - 1
7-150649569-C-T c.1501G>A p.Asp501Asn Missense 6/15 - 2
7-150649569-C-G c.1501G>C p.Asp501His Missense 6/15 - 1
7-150649574-A-G c.1496T>C p.Leu499Pro Missense 6/15 - 2
7-150649580-C-A c.1490G>T p.Trp497Leu Missense 6/15 - 2
7-150649591-G-T c.1479C>A p.Tyr493* Nonsense 6/15 - 1
7-150649591-G-C c.1479C>G p.Tyr493* Nonsense 6/15 - 1
7-150649592-T-G c.1478A>C p.Tyr493Ser Missense 6/15 - 1
7-150649592-T-A c.1478A>T p.Tyr493Phe Missense 6/15 - 5
7-150649592-T-C c.1478A>G p.Tyr493Cys Missense 6/15 - 2
7-150649596-G-A c.1474C>T p.His492Tyr Missense 6/15 - 4
7-150649599-C-T c.1471G>A p.Val491Ile Missense 6/15 - 2
7-150649602-C-T c.1468G>A p.Ala490Thr Missense 6/15 - 7
7-150649602-C-G c.1468G>C p.Ala490Pro Missense 6/15 - 4
7-150649603-G-A c.1467C>T p.Ile489Ile Synonymous 6/15 - 1
7-150649603-G-T c.1467C>A p.Ile489Ile Synonymous 6/15 - 1
7-150649605-T-A c.1465A>T p.Ile489Phe Missense 6/15 - 1
7-150649611-C-T c.1459G>A p.Gly487Ser Missense 6/15 - 1
7-150649613-G-C c.1457C>G p.Pro486Arg Missense 6/15 - 1
7-150649631-T-A c.1439A>T p.Glu480Val Missense 6/15 - 1
7-150649637-G-C c.1433C>G p.Ala478Gly Missense 6/15 - 1
7-150649643-AC-TG c.1426_1427delinsCA p.Val476His Missense 6/15 - 1
7-150649646-T-C c.1424A>G p.Tyr475Cys Missense 6/15 - 1
7-150649649-G-A c.1421C>T p.Thr474Ile Missense 6/15 - 7
7-150649653-T-G c.1417A>C p.Thr473Pro Missense 6/15 - 2
7-150649662-T-C c.1408A>G p.Asn470Asp Missense 6/15 - 22
7-150649672-G-T c.1398C>A p.Asp466Glu Missense 6/15 - 1
7-150649672-G-C c.1398C>G p.Asp466Glu Missense 6/15 - 1
7-150649673-T-G c.1397A>C p.Asp466Ala Missense 6/15 - 4
7-150649673-TC-TG c.1396delinsC p.Asp466His Missense 6/15 - 2
7-150649673-T-A c.1397A>T p.Asp466Val Missense 6/15 - 1
7-150649674-C-A c.1396G>T p.Asp466Tyr Missense 6/15 - 2
7-150649681-GAA-ATG c.1387_1389delinsCAT p.Phe463His Missense 6/15 - 1
7-150649681-GA-GG c.1388delinsC p.Phe463Ser Missense 6/15 - 1
7-150649682-A-T c.1388T>A p.Phe463Tyr Missense 6/15 - 1
7-150649682-AA-GC c.1387_1388delinsGC p.Phe463Ala Missense 6/15 - 1
7-150649681-G-T c.1389C>A p.Phe463Leu Missense 6/15 - 4
7-150649681-G-C c.1389C>G p.Phe463Leu Missense 6/15 - 4
7-150649683-A-C c.1387T>G p.Phe463Val Missense 6/15 - 1
7-150649683-A-G c.1387T>C p.Phe463Leu Missense 6/15 - 4
7-150649691-TC-TG c.1378delinsC p.Asp460His Missense 6/15 - 4
7-150649691-T-G c.1379A>C p.Asp460Ala Missense 6/15 - 4
7-150649692-C-A c.1378G>T p.Asp460Tyr Missense 6/15 - 1
7-150649700-A-G c.1370T>C p.Leu457Pro Missense 6/15 - 1
7-150649703-TC-TG c.1366delinsC p.Asp456His Missense 6/15 - 4
7-150649703-T-G c.1367A>C p.Asp456Ala Missense 6/15 - 5
7-150649704-C-A c.1366G>T p.Asp456Tyr Missense 6/15 - 6
7-150649715-AG-GC c.1354_1355delinsGC p.Leu452Ala Missense 6/15 - 1
7-150649718-G-A c.1352C>T p.Pro451Leu Missense 6/15 - 2
7-150649724-CA-GC c.1345_1346delinsGC p.Cys449Ala Missense 6/15 - 1
7-150649724-CA-GT c.1345_1346delinsAC p.Cys449Thr Missense 6/15 - 2
7-150649736-CA-GC c.1333_1334delinsGC p.Cys445Ala Missense 6/15 - 1
7-150649736-CA-GT c.1333_1334delinsAC p.Cys445Thr Missense 6/15 - 4
7-150649738-C-G c.1332G>C p.Glu444Asp Missense 6/15 - 2
7-150649738-C-A c.1332G>T p.Glu444Asp Missense 6/15 - 2
7-150649739-T-G c.1331A>C p.Glu444Ala Missense 6/15 - 1
7-150649740-C-A c.1330G>T p.Glu444* Nonsense 6/15 - 1
7-150649740-C-T c.1330G>A p.Glu444Lys Missense 6/15 - 3
7-150649755-C-G c.1315G>C p.Gly439Arg Missense 6/15 - 1
7-150649757-TC-AG c.1312_1313delinsCT p.Glu438Leu Missense 6/15 - 1
7-150649757-T-G c.1313A>C p.Glu438Ala Missense 6/15 - 1
7-150649766-TC-AG c.1303_1304delinsCT p.Glu435Leu Missense 6/15 - 1
7-150649766-T-G c.1304A>C p.Glu435Ala Missense 6/15 - 1
7-150649772-AG-GC c.1297_1298delinsGC p.Leu433Ala Missense 6/15 - 1
7-150649778-AA-GC c.1291_1292delinsGC p.Phe431Ala Missense 6/15 - 1
7-150649785-C-G c.1285G>C p.Ala429Pro Missense 6/15 - 6
7-150649787-G-A c.1283C>T p.Ser428Leu Missense 6/15 - 5
7-150649787-G-T c.1283C>A p.Ser428* Nonsense 6/15 - 2
7-150649788-A-G c.1282T>C p.Ser428Pro Missense 6/15 - 1
7-150649788-A-C c.1282T>G p.Ser428Ala Missense 6/15 - 1
7-150649790-T-C c.1280A>G p.Tyr427Cys Missense 6/15 - 1
7-150649790-T-G c.1280A>C p.Tyr427Ser Missense 6/15 - 1
7-150649791-A-G c.1279T>C p.Tyr427His Missense 6/15 - 1
7-150649793-G-T c.1277C>A p.Pro426His Missense 6/15 - 1
7-150649794-G-C c.1276C>G p.Pro426Ala Missense 6/15 - 1
7-150649794-G-A c.1276C>T p.Pro426Ser Missense 6/15 - 1
7-150649802-A-G c.1268T>C p.Val423Ala Missense 6/15 - 1
7-150649806-C-T c.1264G>A p.Ala422Thr Missense 6/15 - 9
7-150649808-G-A c.1262C>T p.Thr421Met Missense 6/15 - 9
7-150649809-T-C c.1261A>G p.Thr421Ala Missense 6/15 - 1
7-150649811-T-C c.1259A>G p.Tyr420Cys Missense 6/15 - 3
7-150649811-TA-GC c.1258_1259delinsGC p.Tyr420Ala Missense 6/15 - 1
7-150649820-AG-GC c.1249_1250delinsGC p.Leu417Ala Missense 6/15 - 2
7-150649826-AG-GC c.1243_1244delinsGC p.Leu415Ala Missense 6/15 - 1
7-150649832-A-G c.1238T>C p.Leu413Pro Missense 6/15 - 2
7-150649835-C-T c.1235G>A p.Trp412* Nonsense 6/15 - 1
7-150649835-CA-GC c.1234_1235delinsGC p.Trp412Ala Missense 6/15 - 1
7-150649834-C-T c.1236G>A p.Trp412* Nonsense 6/15 - 1
7-150649836-AGT-TTCAAA c.1232_1234delinsTTTGAA p.Asp411_Trp412delinsVal* MultiAAMissense 6/15 - 1
7-150649837-GTC-AAG c.1231_1233delinsCTT p.Asp411Leu Missense 6/15 - 1
7-150649838-T-G c.1232A>C p.Asp411Ala Missense 6/15 - 3
7-150649838-TC-TG c.1231delinsC p.Asp411His Missense 6/15 - 3
7-150649839-C-T c.1231G>A p.Asp411Asn Missense 6/15 - 1
7-150649841-C-G c.1229G>C p.Trp410Ser Missense 6/15 - 3
7-150649847-G-A c.1223C>T p.Ala408Val Missense 6/15 - 1
7-150649850-TT-GC c.1219_1220delinsGC p.Lys407Ala Missense 6/15 - 1
7-150649862-TA-GC c.1207_1208delinsGC p.Tyr403Ala Missense 6/15 - 1
7-150649865-TG-GC c.1204_1205delinsGC p.His402Ala Missense 6/15 - 1
7-150649865-T-C c.1205A>G p.His402Arg Missense 6/15 - 2
7-150649867-CAGG-CAGGCAGG c.1201_1204dup p.His402Profs*118 Frameshift 6/15 - 1
7-150649868-AG-GC c.1201_1202delinsGC p.Leu401Ala Missense 6/15 - 1
7-150649871-A-T c.1199T>A p.Ile400Asn Missense 6/15 - 5
7-150649878-A-G c.1192T>C p.Trp398Arg Missense 6/15 - 1
7-150649880-C-T c.1190G>A p.Arg397His Missense 6/15 - 1
7-150652609-G-A c.1128+1770C>T - IntronicSNV - 5/14 1
7-150652610-C-T c.1128+1769G>A - IntronicSNV - 5/14 1
7-150652688-C-T c.1128+1691G>A - IntronicSNV - 5/14 1
7-150654380-TG-TC c.1126delinsG p.Gln376Glu Missense 5/15 - 1
7-150654408-T-A c.1099A>T p.Thr367Ser Missense 5/15 - 1
7-150654407-G-C c.1100C>G p.Thr367Ser Missense 5/15 - 1
7-150654410-CG-GA c.1096_1097delinsTC p.Arg366Ser Missense 5/15 - 1
7-150654411-G-A c.1096C>T p.Arg366* Nonsense 5/15 - 4
7-150654413-T-C c.1094A>G p.Glu365Gly Missense 5/15 - 1
7-150654413-TC-AG c.1093_1094delinsCT p.Glu365Leu Missense 5/15 - 1
7-150654417-T-C c.1090A>G p.Lys364Glu Missense 5/15 - 1
7-150654423-T-C c.1084A>G p.Lys362Glu Missense 5/15 - 1
7-150654440-C-T c.1067G>A p.Arg356His Missense 5/15 - 1
7-150654449-G-C c.1058C>G p.Thr353Ser Missense 5/15 - 1
7-150654450-T-A c.1057A>T p.Thr353Ser Missense 5/15 - 1
7-150654468-G-A c.1039C>T p.Pro347Ser Missense 5/15 - 8
7-150654474-C-G c.1033G>C p.Gly345Arg Missense 5/15 - 1
7-150654481-GG-G c.1027del p.Leu343Serfs*17 Frameshift 5/15 - 1
7-150654482-T-A c.1025A>T p.Asp342Val Missense 5/15 - 1
7-150654521-GT-TG c.985_986delinsCA p.Thr329His Missense 5/15 - 2
7-150654525-G-C c.982C>G p.Arg328Gly Missense 5/15 - 1
7-150654525-G-A c.982C>T p.Arg328Cys Missense 5/15 - 4
7-150654563-A-G c.944T>C p.Leu315Ser Missense 5/15 - 1
7-150654567-C-T c.940G>A p.Gly314Ser Missense 5/15 - 1
7-150654573-G-A c.934C>T p.Arg312Cys Missense 5/15 - 2
7-150654579-G-A c.928C>T p.Pro310Ser Missense 5/15 - 1
7-150654590-C-T c.917G>A p.Gly306Glu Missense 5/15 - 1
7-150654593-A-G c.917-3T>C - IntronicSNV - 4/14 1
7-150655174-G-A c.889C>T p.Pro297Ser Missense 4/15 - 2
7-150655182-C-A c.881G>T p.Gly294Val Missense 4/15 - 4
7-150655186-C-A c.877G>T p.Ala293Ser Missense 4/15 - 1
7-150655191-A-G c.872T>C p.Met291Thr Missense 4/15 - 1
7-150655198-C-T c.865G>A p.Glu289Lys Missense 4/15 - 2
7-150655204-C-T c.859G>A p.Asp287Asn Missense 4/15 - 1
7-150655213-A-C c.850T>G p.Ser284Ala Missense 4/15 - 1
7-150655216-A-C c.847T>G p.Ser283Ala Missense 4/15 - 1
7-150655228-C-T c.835G>A p.Val279Met Missense 4/15 - 3
7-150655245-C-T c.818G>A p.Arg273Gln Missense 4/15 - 4
7-150655251-CGCG-GCTTTT c.809_812delinsAAAAGC p.Thr270Lysfs*91 Frameshift 4/15 - 1
7-150655256-CCG-TGT c.805_807delinsACA p.Arg269Thr Missense 4/15 - 1
7-150655258-G-C c.805C>G p.Arg269Gly Missense 4/15 - 1
7-150655258-G-A c.805C>T p.Arg269Trp Missense 4/15 - 1
7-150655279-C-T c.784G>A p.Gly262Ser Missense 4/15 - 1
7-150655280-C-G c.783G>C p.Ser261Ser Synonymous 4/15 - 1
7-150655285-C-G c.778G>C p.Ala260Pro Missense 4/15 - 1
7-150655294-T-G c.769A>C p.Asn257His Missense 4/15 - 1
7-150655301-G-T c.762C>A p.His254Gln Missense 4/15 - 1
7-150655301-G-C c.762C>G p.His254Gln Missense 4/15 - 1
7-150655308-150655309---GGGGCGATGGGAGCTGGCCG c.735_754dup p.Arg252Profs*115 frameshift_variant 4/15 - 1
7-150655309-G-C c.754C>G p.Arg252Gly Missense 4/15 - 1
7-150655312-G-C c.751C>G p.Pro251Ala Missense 4/15 - 1
7-150655326-C-T c.737G>A p.Gly246Asp Missense 4/15 - 1
7-150655341-G-A c.722C>T p.Pro241Leu Missense 4/15 - 1
7-150655351-C-G c.712G>C p.Gly238Arg Missense 4/15 - 2
7-150655369-G-A c.694C>T p.Arg232Cys Missense 4/15 - 1
7-150655407-T-A c.656A>T p.Asp219Val Missense 4/15 - 2
7-150655419-A-C c.644T>G p.Val215Gly Missense 4/15 - 1
7-150655456-C-T c.607G>A p.Ala203Thr Missense 4/15 - 1
7-150655458-G-A c.605C>T p.Pro202Leu Missense 4/15 - 1
7-150655470-A-T c.593T>A p.Val198Glu Missense 4/15 - 2
7-150655495-C-T c.568G>A p.Ala190Thr Missense 4/15 - 1
7-150655504-C-T c.559G>A p.Gly187Ser Missense 4/15 - 1
7-150655521-C-T c.542G>A p.Arg181Gln Missense 4/15 - 3
7-150655535-CCG-TGT c.526_528delinsACA p.Arg176Thr Missense 4/15 - 1
7-150655536-C-T c.527G>A p.Arg176Gln Missense 4/15 - 3
7-150655537-G-A c.526C>T p.Arg176Trp Missense 4/15 - 48
7-150655537-G-C c.526C>G p.Arg176Gly Missense 4/15 - 1
7-150655542-G-A c.521C>T p.Thr174Met Missense 4/15 - 4
7-150655548-G-A c.515C>T p.Ala172Val Missense 4/15 - 1
7-150655573-G-A c.490C>T p.Arg164Cys Missense 4/15 - 4
7-150656677-G-A c.455C>T p.Thr152Ile Missense 3/15 - 2
7-150656685-GG-G c.453del p.Thr152Profs*14 Frameshift 3/15 - 1
7-150656690-G-A c.442C>T p.Arg148Trp Missense 3/15 - 7
7-150656701-T-A c.431A>T p.Asp144Val Missense 3/15 - 1
7-150656709-C-CC c.424dup p.Ala142Glyfs*3 Frameshift 3/15 - 1
7-150656713-GA-GG c.418delinsC p.Ser140Pro Missense 3/15 - 1
7-150656721-C-A c.411G>T p.Met137Ile Missense 3/15 - 1
7-150656723-T-C c.409A>G p.Met137Val Missense 3/15 - 1
7-150656731-T-G c.401A>C p.Glu134Ala Missense 3/15 - 1
7-150656735-T-C c.397A>G p.Met133Val Missense 3/15 - 1
7-150656744-C-T c.388G>A p.Glu130Lys Missense 3/15 - 1
7-150656758-A-C c.374T>G p.Phe125Cys Missense 3/15 - 1
7-150656758-A-ACCAC c.373_374insGTGG p.Phe125Cysfs*21 Frameshift 3/15 - 1
7-150656761-A-G c.371T>C p.Met124Thr Missense 3/15 - 3
7-150656761-A-C c.371T>G p.Met124Arg Missense 3/15 - 11
7-150656762-T-C c.370A>G p.Met124Val Missense 3/15 - 1
7-150656768-C-T c.364G>A p.Val122Ile Missense 3/15 - 2
7-150656774-CC-C c.361del p.Ala121Leufs*12 Frameshift 3/15 - 1
7-150656779-T-G c.353A>C p.Glu118Ala Missense 3/15 - 1
7-150656789-C-T c.343G>A p.Val115Met Missense 3/15 - 1
7-150656792-G-A c.340C>T p.Pro114Ser Missense 3/15 - 1
7-150656800-T-A c.332A>T p.Asp111Val Missense 3/15 - 2
7-150656806-A-G c.326T>C p.Leu109Pro Missense 3/15 - 1
7-150656809-C-T c.323G>A p.Cys108Tyr Missense 3/15 - 2
7-150656810-A-G c.322T>C p.Cys108Arg Missense 3/15 - 2
7-150656815-A-T c.317T>A p.Phe106Tyr Missense 3/15 - 2
7-150656814-G-C c.318C>G p.Phe106Leu Missense 3/15 - 2
7-150656814-G-T c.318C>A p.Phe106Leu Missense 3/15 - 2
7-150656816-A-G c.316T>C p.Phe106Leu Missense 3/15 - 2
7-150657095-G-A c.308-271C>T - IntronicSNV - 2/14 2
7-150658678-G-A c.308-1854C>T - IntronicSNV - 2/14 1
7-150661409-G-A c.308-4585C>T - IntronicSNV - 2/14 2
7-150667210-C-T c.307+4589G>A - IntronicSNV - 2/14 21
7-150667210-C-A c.307+4589G>T - IntronicSNV - 2/14 21
7-150669867-C-G c.307+1932G>C - IntronicSNV - 2/14 4
7-150669867-C-T c.307+1932G>A - IntronicSNV - 2/14 4
7-150669976-C-G c.307+1823G>C - IntronicSNV - 2/14 1
7-150671214-C-A c.307+585G>T - IntronicSNV - 2/14 5
7-150671214-C-T c.307+585G>A - IntronicSNV - 2/14 4
7-150671797-A-T c.307+2T>A - IntronicSNV - 2/14 1
7-150671801-T-G c.305A>C p.Asp102Ala Missense 2/15 - 2
7-150671801-T-A c.305A>T p.Asp102Val Missense 2/15 - 2
7-150671802-C-G c.304G>C p.Asp102His Missense 2/15 - 1
7-150671805-T-C c.301A>G p.Lys101Glu Missense 2/15 - 5
7-150671807-C-T c.299G>A p.Arg100Gln Missense 2/15 - 1
7-150671808-G-A c.298C>T p.Arg100Trp Missense 2/15 - 2
7-150671808-G-C c.298C>G p.Arg100Gly Missense 2/15 - 1
7-150671810-T-G c.296A>C p.Tyr99Ser Missense 2/15 - 1
7-150671813-A-G c.293T>C p.Phe98Ser Missense 2/15 - 1
7-150671819-A-G c.287T>C p.Ile96Thr Missense 2/15 - 4
7-150671820-T-C c.286A>G p.Ile96Val Missense 2/15 - 2
7-150671822-T-C c.284A>G p.Glu95Gly Missense 2/15 - 1
7-150671825-A-C c.281T>G p.Val94Gly Missense 2/15 - 1
7-150671829-T-C c.277A>G p.Lys93Glu Missense 2/15 - 1
7-150671838-C-T c.268G>A p.Glu90Lys Missense 2/15 - 3
7-150671840-G-A c.266C>T p.Ala89Val Missense 2/15 - 1
7-150671846-A-G c.260T>C p.Leu87Pro Missense 2/15 - 2
7-150671849-A-C c.257T>G p.Leu86Arg Missense 2/15 - 6
7-150671852-G-A c.254C>T p.Ala85Val Missense 2/15 - 1
7-150671853-C-G c.253G>C p.Ala85Pro Missense 2/15 - 1
7-150671861-A-G c.245T>C p.Ile82Thr Missense 2/15 - 2
7-150671861-ATCTGCGCG-ATCTGCGCGATCTGCGCG c.244_252dup p.Ile82_Gln84dup InFrameInsertion 2/15 - 1
7-150671863-C-G c.243G>C p.Gln81His Missense 2/15 - 1
7-150671864-CTGCGCGGC-C c.236_243del p.Ala79Aspfs*63 Frameshift 2/15 - 1
7-150671865-G-A c.241C>T p.Gln81* Nonsense 2/15 - 4
7-150671868-C-G c.238G>C p.Ala80Pro Missense 2/15 - 2
7-150671871-C-G c.235G>C p.Ala79Pro Missense 2/15 - 1
7-150671872-CAGCGCGGCGCTGCGTGCGCGGC-C c.221_242del p.Thr74Argfs*35 Frameshift 2/15 - 1
7-150671873-GC-CG c.232_233delinsCG p.Ala78Arg Missense 2/15 - 1
7-150671873-G-C c.233C>G p.Ala78Gly Missense 2/15 - 1
7-150671873-G-A c.233C>T p.Ala78Val Missense 2/15 - 3
7-150671874-C-T c.232G>A p.Ala78Thr Missense 2/15 - 2
7-150671874-C-G c.232G>C p.Ala78Pro Missense 2/15 - 9
7-150671885-G-A c.221C>T p.Thr74Met Missense 2/15 - 1
7-150671885-G-C c.221C>G p.Thr74Arg Missense 2/15 - 1
7-150671886-T-G c.220A>C p.Thr74Pro Missense 2/15 - 1
7-150671891-G-C c.215C>G p.Pro72Arg Missense 2/15 - 1
7-150671894-C-T c.212G>A p.Gly71Glu Missense 2/15 - 1
7-150671895-C-G c.211G>C p.Gly71Arg Missense 2/15 - 3
7-150671895-C-A c.211G>T p.Gly71Trp Missense 2/15 - 1
7-150671895-C-T c.211G>A p.Gly71Arg Missense 2/15 - 3
7-150671897-T-C c.209A>G p.His70Arg Missense 2/15 - 8
7-150671898-G-T c.208C>A p.His70Asn Missense 2/15 - 1
7-150671899-CAG-GAC c.205_207delinsGTC p.Leu69Val Missense 2/15 - 1
7-150671900-A-G c.206T>C p.Leu69Pro Missense 2/15 - 2
7-150671900-AG-GC c.205_206delinsGC p.Leu69Ala Missense 2/15 - 1
7-150671904-A-G c.202T>C p.Phe68Leu Missense 2/15 - 1
7-150671902-G-T c.204C>A p.Phe68Leu Missense 2/15 - 1
7-150671902-G-C c.204C>G p.Phe68Leu Missense 2/15 - 1
7-150671907-C-A c.199G>T p.Asp67Tyr Missense 2/15 - 1
7-150671910-A-C c.196T>G p.Cys66Gly Missense 2/15 - 8
7-150671911-G-A c.195C>T p.Thr65Thr Synonymous 2/15 - 1
7-150671911-G-C c.195C>G p.Thr65Thr Synonymous 2/15 - 1
7-150671911-G-T c.195C>A p.Thr65Thr Synonymous 2/15 - 1
7-150671912-G-C c.194C>G p.Thr65Ser Missense 2/15 - 1
7-150671913-T-A c.193A>T p.Thr65Ser Missense 2/15 - 1
7-150671913-T-G c.193A>C p.Thr65Pro Missense 2/15 - 12
7-150671914-G-C c.192C>G p.Cys64Trp Missense 2/15 - 1
7-150671915-C-T c.191G>A p.Cys64Tyr Missense 2/15 - 3
7-150671921-C-T c.185G>A p.Arg62Gln Missense 2/15 - 1
7-150671924-T-A c.182A>T p.Gln61Leu Missense 2/15 - 1
7-150671924-T-C c.182A>G p.Gln61Arg Missense 2/15 - 2
7-150671928-T-C c.178A>G p.Met60Val Missense 2/15 - 1
7-150671932-C-A c.174G>T p.Glu58Asp Missense 2/15 - 3
7-150671932-C-G c.174G>C p.Glu58Asp Missense 2/15 - 3
7-150671933-T-G c.173A>C p.Glu58Ala Missense 2/15 - 3
7-150671933-T-C c.173A>G p.Glu58Gly Missense 2/15 - 1
7-150671934-C-T c.172G>A p.Glu58Lys Missense 2/15 - 2
7-150671937-C-G c.169G>C p.Ala57Pro Missense 2/15 - 4
7-150671938-CCG-GAC c.166_168delinsGTC p.Arg56Val Missense 2/15 - 1
7-150671939-C-T c.167G>A p.Arg56Gln Missense 2/15 - 33
7-150671939-CG-GA c.166_167delinsTC p.Arg56Ser Missense 2/15 - 1
7-150671942-G-A c.164C>T p.Ser55Leu Missense 2/15 - 1
7-150671946-A-G c.160T>C p.Tyr54His Missense 2/15 - 3
7-150671948-C-A c.158G>T p.Gly53Val Missense 2/15 - 1
7-150671948-C-T c.158G>A p.Gly53Asp Missense 2/15 - 4
7-150671949-C-G c.157G>C p.Gly53Arg Missense 2/15 - 8
7-150671949-C-T c.157G>A p.Gly53Ser Missense 2/15 - 4
7-150671956-C-A c.150G>T p.Glu50Asp Missense 2/15 - 4
7-150671958-C-A c.148G>T p.Glu50* Nonsense 2/15 - 1
7-150671960-C-T c.146G>A p.Cys49Tyr Missense 2/15 - 2
7-150671966-C-A c.140G>T p.Gly47Val Missense 2/15 - 1
7-150671970-C-T c.136G>A p.Asp46Asn Missense 2/15 - 1
7-150671970-C-A c.136G>T p.Asp46Tyr Missense 2/15 - 1
7-150671971-G-C c.135C>G p.Asn45Lys Missense 2/15 - 1
7-150671971-G-T c.135C>A p.Asn45Lys Missense 2/15 - 1
7-150671972-T-C c.134A>G p.Asn45Ser Missense 2/15 - 1
7-150671973-T-A c.133A>T p.Asn45Tyr Missense 2/15 - 2
7-150671973-T-C c.133A>G p.Asn45Asp Missense 2/15 - 2
7-150671974-G-T c.132C>A p.Cys44* Nonsense 2/15 - 2
7-150671974-G-C c.132C>G p.Cys44Trp Missense 2/15 - 1
7-150671975-C-A c.131G>T p.Cys44Phe Missense 2/15 - 2
7-150671975-C-T c.131G>A p.Cys44Tyr Missense 2/15 - 1
7-150671978-TA-GC c.127_128delinsGC p.Tyr43Ala Missense 2/15 - 2
7-150671978-T-C c.128A>G p.Tyr43Cys Missense 2/15 - 8
7-150671979-A-C c.127T>G p.Tyr43Asp Missense 2/15 - 1
7-150671981-A-T c.125T>A p.Ile42Asn Missense 2/15 - 5
7-150671984-A-G c.122T>C p.Val41Ala Missense 2/15 - 3
7-150671984-A-C c.122T>G p.Val41Gly Missense 2/15 - 1
7-150671985-C-A c.121G>T p.Val41Phe Missense 2/15 - 2
7-150671989-G-T c.117C>A p.Cys39* Nonsense 2/15 - 2
7-150671991-A-G c.115T>C p.Cys39Arg Missense 2/15 - 1
7-150672003-G-A c.103C>T p.Arg35Trp Missense 2/15 - 2
7-150672008-T-G c.98A>C p.Asn33Thr Missense 2/15 - 14
7-150672011-G-T c.95C>A p.Ala32Asp Missense 2/15 - 1
7-150672012-C-T c.94G>A p.Ala32Thr Missense 2/15 - 2
7-150672014-A-G c.92T>C p.Ile31Thr Missense 2/15 - 1
7-150672014-A-C c.92T>G p.Ile31Ser Missense 2/15 - 8
7-150672015-T-A c.91A>T p.Ile31Phe Missense 2/15 - 1
7-150672015-T-C c.91A>G p.Ile31Val Missense 2/15 - 1
7-150672017-A-G c.89T>C p.Ile30Thr Missense 2/15 - 1
7-150672018-ATGA-A c.91_93del p.Ile31del InFrameDeletion 2/15 - 1
7-150672018-T-A c.88A>T p.Ile30Phe Missense 2/15 - 1
7-150672020-A-G c.86T>C p.Phe29Ser Missense 2/15 - 2
7-150672020-AA-GC c.85_86delinsGC p.Phe29Ala Missense 2/15 - 1
7-150672019-G-T c.87C>A p.Phe29Leu Missense 2/15 - 19
7-150672024-T-C c.82A>G p.Lys28Glu Missense 2/15 - 10
7-150672026-CG-GC c.79_80delinsGC p.Arg27Ala Missense 2/15 - 1
7-150672027-G-A c.79C>T p.Arg27Cys Missense 2/15 - 1
7-150672029-C-A c.77G>T p.Ser26Ile Missense 2/15 - 3
7-150673314-A-G c.77-1285T>C - IntronicSNV - 1/14 1
7-150674430-C-G c.76+496G>C - IntronicSNV - 1/14 4
7-150674430-C-T c.76+496G>A - IntronicSNV - 1/14 4
7-150674929-G-A c.73C>T p.Gln25* Nonsense 1/15 - 3
7-150674935-C-T c.67G>A p.Glu23Lys Missense 1/15 - 3
7-150674937-A-G c.65T>C p.Phe22Ser Missense 1/15 - 2
7-150674937-A-T c.65T>A p.Phe22Tyr Missense 1/15 - 2
7-150674942-GCG-GAG c.59delinsT p.Arg20Leu Missense 1/15 - 1
7-150674943-CG-GA c.58_59delinsTC p.Arg20Ser Missense 1/15 - 1
7-150674943-CG-GC c.58_59delinsGC p.Arg20Ala Missense 1/15 - 1
7-150674944-G-C c.58C>G p.Arg20Gly Missense 1/15 - 2
7-150674946-AT-GC c.55_56delinsGC p.Ile19Ala Missense 1/15 - 1
7-150674946-A-C c.56T>G p.Ile19Ser Missense 1/15 - 1
7-150674949-A-C c.53T>G p.Ile18Ser Missense 1/15 - 1
7-150674955-T-G c.47A>C p.Asp16Ala Missense 1/15 - 3
7-150674958-AG-TC c.43_44delinsGA p.Leu15Glu Missense 1/15 - 1
7-150674961-AA-GC c.40_41delinsGC p.Phe14Ala Missense 1/15 - 2
7-150674964-G-T c.38C>A p.Thr13Asn Missense 1/15 - 1
7-150674965-T-C c.37A>G p.Thr13Ala Missense 1/15 - 1
7-150674966-GTT-GAG c.34_35delinsCT p.Asn12Leu Missense 1/15 - 1
7-150674967-TT-GC c.34_35delinsGC p.Asn12Ala Missense 1/15 - 1