ABCB1 ATP binding cassette subfamily B member 1

Canonical transcript: NM_000927

797 unique variant annotations were identified in 621 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-87133366-T-C c.*193A>G - 3-UTRSNV 29/29 - 30
7-87133470-T-A c.*89A>T - 3-UTRSNV 29/29 - 8
7-87133623-AG-GC c.3778_3779delinsGC p.Leu1260Ala Missense 29/29 - 3
7-87133634-CGT-TGT c.3768delinsA p.Thr1256Thr Missense 29/29 - 1
7-87133635-G-T c.3767C>A p.Thr1256Lys Missense 29/29 - 1
7-87133651-C-T c.3751G>A p.Val1251Ile Missense 29/29 - 5
7-87133656-C-G c.3746G>C p.Gly1249Ala Missense 29/29 - 22
7-87133695-GT-TG c.3706_3707delinsCA p.Thr1236His Missense 29/29 - 5
7-87133725-GT-TG c.3676_3677delinsCA p.Thr1226His Missense 29/29 - 3
7-87133753-C-T c.3649G>A p.Ala1217Thr Missense 29/29 - 1
7-87133947-C-A c.3637-182G>T - IntronicSNV - 28/28 1
7-87133993-T-A c.3637-228A>T - IntronicSNV - 28/28 1
7-87133993-T-C c.3637-228A>G - IntronicSNV - 28/28 1
7-87135241-G-A c.3608C>T p.Thr1203Met Missense 28/29 - 1
7-87135248-C-G c.3601G>C p.Glu1201Gln Missense 28/29 - 1
7-87135251-C-T c.3598G>A p.Asp1200Asn Missense 28/29 - 1
7-87135322-AG-TG c.3527delinsA p.Leu1176His Missense 28/29 - 1
7-87137018-C-T c.3489+1573G>A - IntronicSNV - 27/28 7
7-87137461-G-A c.3489+1130C>T - IntronicSNV - 27/28 4
7-87138511-G-A c.3489+80C>T - IntronicSNV - 27/28 14
7-87138532-A-C c.3489+59T>G - IntronicSNV - 27/28 9
7-87138532-A-G c.3489+59T>C - IntronicSNV - 27/28 9
7-87138618-T-A c.3462A>T p.Ile1154Ile Synonymous 27/29 - 1
7-87138618-T-G c.3462A>C p.Ile1154Ile Synonymous 27/29 - 1
7-87138645-A-G c.3435T>C p.Ile1145Ile Synonymous 27/29 - 730
7-87138645-A-T c.3435T>A p.Ile1145Ile Synonymous 27/29 - 722
7-87138659-A-T c.3421T>A p.Ser1141Thr Missense 27/29 - 9
7-87138727-TG-GC c.3352_3353delinsGC p.Gln1118Ala Missense 27/29 - 1
7-87138758-A-G c.3322T>C p.Trp1108Arg Missense 27/29 - 6
7-87138760-T-G c.3320A>C p.Gln1107Pro Missense 27/29 - 2
7-87139316-A-G c.3283-519T>C - IntronicSNV - 26/28 4
7-87140808-A-G c.3283-2011T>C - IntronicSNV - 26/28 2
7-87141174-G-C c.3283-2377C>G - IntronicSNV - 26/28 4
7-87141174-G-T c.3283-2377C>A - IntronicSNV - 26/28 4
7-87141497-A-C c.3283-2700T>G - IntronicSNV - 26/28 1
7-87141497-A-T c.3283-2700T>A - IntronicSNV - 26/28 1
7-87141751-C-A c.3282+2796G>T - IntronicSNV - 26/28 3
7-87141751-C-T c.3282+2796G>A - IntronicSNV - 26/28 3
7-87141814-T-C c.3282+2733A>G - IntronicSNV - 26/28 7
7-87143153-T-C c.3282+1394A>G - IntronicSNV - 26/28 2
7-87143275-T-C c.3282+1272A>G - IntronicSNV - 26/28 1
7-87143504-C-T c.3282+1043G>A - IntronicSNV - 26/28 2
7-87144413-G-C c.3282+134C>G - IntronicSNV - 26/28 4
7-87144566-TC-TG c.3262delinsC p.Asp1088His Missense 26/29 - 1
7-87144567-C-T c.3262G>A p.Asp1088Asn Missense 26/29 - 1
7-87144568-G-C c.3261C>G p.Tyr1087* Nonsense 26/29 - 1
7-87144568-G-T c.3261C>A p.Tyr1087* Nonsense 26/29 - 1
7-87144568-GTA-GAG c.3259_3260delinsCT p.Tyr1087Leu Missense 26/29 - 1
7-87144569-T-A c.3260A>T p.Tyr1087Phe Missense 26/29 - 2
7-87144569-TA-CG c.3259_3260delinsCG p.Tyr1087Arg Missense 26/29 - 1
7-87144569-TA-CT c.3259_3260delinsAG p.Tyr1087Ser Missense 26/29 - 2
7-87144569-TA-GC c.3259_3260delinsGC p.Tyr1087Ala Missense 26/29 - 3
7-87144569-T-C c.3260A>G p.Tyr1087Cys Missense 26/29 - 2
7-87144571-GA-AA c.3258delinsT p.Phe1086Phe Nonsense 26/29 - 1
7-87144571-GA-GG c.3257delinsC p.Phe1086Ser Missense 26/29 - 2
7-87144572-AA-CG c.3256_3257delinsCG p.Phe1086Arg Missense 26/29 - 2
7-87144572-AA-GA c.3257delinsC p.Phe1086Ser Missense 26/29 - 1
7-87144572-AA-GC c.3256_3257delinsGC p.Phe1086Ala Missense 26/29 - 2
7-87144572-A-C c.3257T>G p.Phe1086Cys Missense 26/29 - 5
7-87144572-A-T c.3257T>A p.Phe1086Tyr Missense 26/29 - 1
7-87144571-G-C c.3258C>G p.Phe1086Leu Missense 26/29 - 3
7-87144571-G-T c.3258C>A p.Phe1086Leu Missense 26/29 - 3
7-87144573-A-G c.3256T>C p.Phe1086Leu Missense 26/29 - 3
7-87144574-CCG-TGT c.3253_3255delinsACA p.Arg1085Thr Missense 26/29 - 1
7-87144602-T-A c.3227A>T p.Lys1076Met Missense 26/29 - 1
7-87144642-C-A c.3187G>T p.Gly1063Cys Missense 26/29 - 1
7-87144644-T-C c.3185A>G p.Lys1062Arg Missense 26/29 - 1
7-87144646-C-T c.3183G>A p.Lys1061Lys Synonymous 26/29 - 2
7-87144678-G-C c.3151C>G p.Pro1051Ala Missense 26/29 - 2
7-87144680-AT-TG c.3148_3149delinsCA p.Ile1050His Missense 26/29 - 2
7-87144723-T-C c.3106A>G p.Thr1036Ala Missense 26/29 - 1
7-87144816-G-A c.3085-72C>T - IntronicSNV - 25/28 6
7-87144816-G-C c.3085-72C>G - IntronicSNV - 25/28 6
7-87145483-G-A c.3084+342C>T - IntronicSNV - 25/28 1
7-87145871-T-C c.3038A>G p.Glu1013Gly Missense 25/29 - 1
7-87145871-T-G c.3038A>C p.Glu1013Ala Missense 25/29 - 1
7-87145899-A-C c.3010T>G p.Ser1004Ala Missense 25/29 - 1
7-87145914-C-T c.2995G>A p.Ala999Thr Missense 25/29 - 1
7-87145928-A-C c.2981T>G p.Phe994Cys Missense 25/29 - 1
7-87145931-GA-AG c.2977_2978delinsCT p.Ser993Leu Missense 25/29 - 2
7-87145935-T-A c.2974A>T p.Ser992Cys Missense 25/29 - 1
7-87145939-TTG-TGT c.2968_2969delinsAC p.Gln990Thr Missense 25/29 - 1
7-87145940-T-C c.2969A>G p.Gln990Arg Missense 25/29 - 1
7-87145942-CCC-TGT c.2965_2967delinsACA p.Gly989Thr Missense 25/29 - 1
7-87145945-CAC-TGT c.2962_2964delinsACA p.Val988Thr Missense 25/29 - 1
7-87145949-GC-CG c.2959_2960delinsCG p.Ala987Arg Missense 25/29 - 1
7-87145951-C-A c.2958G>T p.Met986Ile Missense 25/29 - 1
7-87145951-CAT-TGT c.2957_2958delinsCA p.Met986Thr Missense 25/29 - 1
7-87145951-C-G c.2958G>C p.Met986Ile Missense 25/29 - 1
7-87145951-C-T c.2958G>A p.Met986Ile Missense 25/29 - 1
7-87145952-A-C c.2957T>G p.Met986Arg Missense 25/29 - 2
7-87145953-T-C c.2956A>G p.Met986Val Missense 25/29 - 1
7-87145955-GC-TG c.2953_2954delinsCA p.Ala985His Missense 25/29 - 2
7-87145956-C-T c.2953G>A p.Ala985Thr Missense 25/29 - 1
7-87145959-C-A c.2950G>T p.Gly984Cys Missense 25/29 - 3
7-87145961-AA-CG c.2947_2948delinsCG p.Phe983Arg Missense 25/29 - 1
7-87145961-AA-GC c.2947_2948delinsGC p.Phe983Ala Missense 25/29 - 1
7-87145960-A-C c.2949T>G p.Phe983Leu Missense 25/29 - 1
7-87145960-A-T c.2949T>A p.Phe983Leu Missense 25/29 - 1
7-87145962-A-G c.2947T>C p.Phe983Leu Missense 25/29 - 1
7-87145964-AC-CG c.2944_2945delinsCG p.Val982Arg Missense 25/29 - 3
7-87145964-AC-TG c.2944_2945delinsCA p.Val982His Missense 25/29 - 7
7-87145967-AC-CG c.2941_2942delinsCG p.Val981Arg Missense 25/29 - 1
7-87145967-AC-TG c.2941_2942delinsCA p.Val981His Missense 25/29 - 2
7-87145970-GC-TG c.2938_2939delinsCA p.Ala980His Missense 25/29 - 3
7-87145972-TG-GT c.2936_2937delinsAC p.Ser979Tyr Missense 25/29 - 1
7-87145973-GA-AG c.2935_2936delinsCT p.Ser979Leu Missense 25/29 - 1
7-87145976-AA-CG c.2932_2933delinsCG p.Phe978Arg Missense 25/29 - 2
7-87145976-AA-GC c.2932_2933delinsGC p.Phe978Ala Missense 25/29 - 1
7-87145976-A-C c.2933T>G p.Phe978Cys Missense 25/29 - 6
7-87145976-A-G c.2933T>C p.Phe978Ser Missense 25/29 - 1
7-87145976-A-T c.2933T>A p.Phe978Tyr Missense 25/29 - 1
7-87145975-A-C c.2934T>G p.Phe978Leu Missense 25/29 - 1
7-87145975-A-T c.2934T>A p.Phe978Leu Missense 25/29 - 1
7-87145977-A-G c.2932T>C p.Phe978Leu Missense 25/29 - 1
7-87145978-TAC-TGT c.2929_2930delinsAC p.Val977Thr Missense 25/29 - 1
7-87145979-AC-AG c.2929delinsC p.Val977Leu Missense 25/29 - 1
7-87148265-G-T c.2927+377C>A - IntronicSNV - 24/28 3
7-87148328-C-T c.2927+314G>A - IntronicSNV - 24/28 3
7-87148644-CAG-TGT c.2923_2925delinsACA p.Leu975Thr Missense 24/29 - 7
7-87148645-A-C c.2924T>G p.Leu975Arg Missense 24/29 - 1
7-87148697-G-A c.2872C>T p.Arg958Trp Missense 24/29 - 1
7-87148699-A-C c.2870T>G p.Phe957Cys Missense 24/29 - 1
7-87148701-A-G c.2868T>C p.Cys956Cys Synonymous 24/29 - 1
7-87148704-TCC-TGT c.2863_2864delinsAC p.Gly955Thr Missense 24/29 - 1
7-87148708-GC-TG c.2860_2861delinsCA p.Ala954His Missense 24/29 - 1
7-87148711-T-A c.2858A>T p.Tyr953Phe Missense 24/29 - 3
7-87148711-TA-CG c.2857_2858delinsCG p.Tyr953Arg Missense 24/29 - 1
7-87148711-TA-GC c.2857_2858delinsGC p.Tyr953Ala Missense 24/29 - 6
7-87148711-T-C c.2858A>G p.Tyr953Cys Missense 24/29 - 3
7-87148712-A-G c.2857T>C p.Tyr953His Missense 24/29 - 1
7-87148714-GA-CG c.2854_2855delinsCG p.Ser952Arg Missense 24/29 - 1
7-87148714-G-C c.2855C>G p.Ser952Cys Missense 24/29 - 1
7-87148715-A-C c.2854T>G p.Ser952Ala Missense 24/29 - 1
7-87148717-AA-GC c.2851_2852delinsGC p.Phe951Ala Missense 24/29 - 1
7-87148720-T-A c.2849A>T p.Tyr950Phe Missense 24/29 - 2
7-87148720-TA-CG c.2848_2849delinsCG p.Tyr950Arg Missense 24/29 - 1
7-87148720-TA-GC c.2848_2849delinsGC p.Tyr950Ala Missense 24/29 - 2
7-87148722-CAT-TGT c.2846_2847delinsCA p.Met949Thr Missense 24/29 - 2
7-87148723-A-C c.2846T>G p.Met949Arg Missense 24/29 - 1
7-87148723-AT-GC c.2845_2846delinsGC p.Met949Ala Missense 24/29 - 1
7-87148726-AT-GC c.2842_2843delinsGC p.Met948Ala Missense 24/29 - 1
7-87148732-T-C c.2837A>G p.Gln946Arg Missense 24/29 - 2
7-87148732-TG-GC c.2836_2837delinsGC p.Gln946Ala Missense 24/29 - 1
7-87148735-GT-TG c.2833_2834delinsCA p.Thr945His Missense 24/29 - 2
7-87148744-AA-CG c.2824_2825delinsCG p.Phe942Arg Missense 24/29 - 3
7-87148744-A-C c.2825T>G p.Phe942Cys Missense 24/29 - 2
7-87148764-TGC-TGT c.2803delinsA p.Ala935Thr Missense 24/29 - 1
7-87148938-G-A c.2787-156C>T - IntronicSNV - 23/28 2
7-87149922-C-T c.2786+170G>A - IntronicSNV - 23/28 7
7-87150143-T-C c.2735A>G p.Gln912Arg Missense 23/29 - 1
7-87150152-G-C c.2726C>G p.Ser909Cys Missense 23/29 - 4
7-87150155-AC-AG c.2722delinsC p.Val908Leu Missense 23/29 - 1
7-87150158-AC-AG c.2719delinsC p.Val907Leu Missense 23/29 - 1
7-87150159-C-T c.2719G>A p.Val907Ile Missense 23/29 - 1
7-87150162-T-C c.2716A>G p.Thr906Ala Missense 23/29 - 1
7-87150163-TCG-TGT c.2713_2714delinsAC p.Arg905Thr Missense 23/29 - 2
7-87150164-CG-GC c.2713_2714delinsGC p.Arg905Ala Missense 23/29 - 1
7-87150164-C-T c.2714G>A p.Arg905Gln Missense 23/29 - 1
7-87150163-T-A c.2715A>T p.Arg905Arg Synonymous 23/29 - 1
7-87150163-T-C c.2715A>G p.Arg905Arg Synonymous 23/29 - 1
7-87150163-T-G c.2715A>C p.Arg905Arg Synonymous 23/29 - 1
7-87150165-G-T c.2713C>A p.Arg905Arg Synonymous 23/29 - 1
7-87150167-A-C c.2711T>G p.Phe904Cys Missense 23/29 - 1
7-87150180-C-T c.2698G>A p.Ala900Thr Missense 23/29 - 1
7-87150191-A-G c.2687T>C p.Ile896Thr Missense 23/29 - 1
7-87150774-G-A c.2686-582C>T - IntronicSNV - 22/28 1
7-87151090-T-A c.2686-898A>T - IntronicSNV - 22/28 2
7-87151090-T-C c.2686-898A>G - IntronicSNV - 22/28 2
7-87151524-C-G c.2686-1332G>C - IntronicSNV - 22/28 2
7-87151658-C-T c.2686-1466G>A - IntronicSNV - 22/28 4
7-87152045-A-G c.2686-1853T>C - IntronicSNV - 22/28 1
7-87152103-A-G c.2686-1911T>C - IntronicSNV - 22/28 8
7-87152790-C-A c.2686-2598G>T - IntronicSNV - 22/28 1
7-87153160-G-A c.2686-2968C>T - IntronicSNV - 22/28 2
7-87153585-A-C c.2686-3393T>G - IntronicSNV - 22/28 6
7-87153585-A-G c.2686-3393T>C - IntronicSNV - 22/28 6
7-87154646-A-G c.2686-4454T>C - IntronicSNV - 22/28 2
7-87157051-G-A c.2685+3559C>T - IntronicSNV - 22/28 11
7-87157466-C-G c.2685+3144G>C - IntronicSNV - 22/28 1
7-87157583-A-C c.2685+3027T>G - IntronicSNV - 22/28 4
7-87157706-C-T c.2685+2904G>A - IntronicSNV - 22/28 1
7-87158185-G-T c.2685+2425C>A - IntronicSNV - 22/28 1
7-87160561-A-G c.2685+49T>C - IntronicSNV - 22/28 26
7-87160614-CC-AC c.2681delinsT p.Gly894Val Missense 22/29 - 2
7-87160615-C-G c.2680G>C p.Gly894Arg Missense 22/29 - 1
7-87160615-C-T c.2680G>A p.Gly894Arg Missense 22/29 - 1
7-87160618-A-C c.2677T>G p.Ser893Ala Missense 22/29 - 444
7-87160618-A-T c.2677T>A p.Ser893Thr Missense 22/29 - 419
7-87160677-AC-CG c.2617_2618delinsCG p.Val873Arg Missense 22/29 - 1
7-87160679-TCC-TGT c.2614_2615delinsAC p.Gly872Thr Missense 22/29 - 1
7-87160681-C-G c.2614G>C p.Gly872Arg Missense 22/29 - 2
7-87160681-C-T c.2614G>A p.Gly872Arg Missense 22/29 - 2
7-87160691-AA-GG c.2603_2604delinsCC p.Ile868Thr Missense 22/29 - 2
7-87160692-AT-TG c.2602_2603delinsCA p.Ile868His Missense 22/29 - 1
7-87160693-T-C c.2602A>G p.Ile868Val Missense 22/29 - 1
7-87160713-AG-TG c.2582delinsA p.Leu861His Missense 22/29 - 1
7-87160715-TA-GT c.2579_2580delinsAC p.Leu860Tyr Missense 22/29 - 1
7-87160718-CAG-TGT c.2575_2577delinsACA p.Leu859Thr Missense 22/29 - 1
7-87160724-TAG-TGT c.2569_2570delinsAC p.Leu857Thr Missense 22/29 - 1
7-87160727-TTG-TGT c.2566_2567delinsAC p.Gln856Thr Missense 22/29 - 1
7-87160740-AT-TG c.2554_2555delinsCA p.Ile852His Missense 22/29 - 1
7-87160743-A-C c.2552T>G p.Phe851Cys Missense 22/29 - 1
7-87160746-G-C c.2549C>G p.Ser850Cys Missense 22/29 - 1
7-87160747-A-C c.2548T>G p.Ser850Ala Missense 22/29 - 1
7-87160748-TAT-TGT c.2546delinsC p.Ile849Thr Missense 22/29 - 1
7-87160748-T-C c.2547A>G p.Ile849Met Missense 22/29 - 1
7-87160752-AT-TG c.2542_2543delinsCA p.Ile848His Missense 22/29 - 1
7-87160754-TAT-TGT c.2540delinsC p.Ile847Thr Missense 22/29 - 1
7-87160769-AT-GG c.2525_2526delinsCC p.Asn842Thr Missense 22/29 - 1
7-87160778-AT-GG c.2516_2517delinsCC p.Asn839Thr Missense 22/29 - 1
7-87160782-T-C c.2513A>G p.Gln838Arg Missense 22/29 - 1
7-87160794-GC-CG c.2500_2501delinsCG p.Ala834Arg Missense 22/29 - 1
7-87160806-C-A c.2489G>T p.Gly830Val Missense 22/29 - 2
7-87161049-T-C c.2482-236A>G - IntronicSNV - 21/28 7
7-87161520-T-C c.2482-707A>G - IntronicSNV - 21/28 5
7-87162341-A-G c.2482-1528T>C - IntronicSNV - 21/28 3
7-87163049-C-T c.2482-2236G>A - IntronicSNV - 21/28 23
7-87164349-A-C c.2481+1425T>G - IntronicSNV - 21/28 1
7-87164349-A-G c.2481+1425T>C - IntronicSNV - 21/28 1
7-87164483-G-A c.2481+1291C>T - IntronicSNV - 21/28 3
7-87164756-C-A c.2481+1018G>T - IntronicSNV - 21/28 1
7-87164756-C-T c.2481+1018G>A - IntronicSNV - 21/28 1
7-87164892-T-A c.2481+882A>T - IntronicSNV - 21/28 4
7-87164892-T-C c.2481+882A>G - IntronicSNV - 21/28 4
7-87164892-T-G c.2481+882A>C - IntronicSNV - 21/28 4
7-87164986-A-G c.2481+788T>C - IntronicSNV - 21/28 12
7-87164986-A-T c.2481+788T>A - IntronicSNV - 21/28 12
7-87165697-G-A c.2481+77C>T - IntronicSNV - 21/28 1
7-87165734-G-A c.2481+40C>T - IntronicSNV - 21/28 2
7-87165750-C-A c.2481+24G>T - IntronicSNV - 21/28 16
7-87165750-C-G c.2481+24G>C - IntronicSNV - 21/28 16
7-87165750-C-T c.2481+24G>A - IntronicSNV - 21/28 16
7-87165796-TT-TG c.2458delinsC p.Asn820His Missense 21/29 - 6
7-87165802-AG-GC c.2452_2453delinsGC p.Leu818Ala Missense 21/29 - 1
7-87165814-AA-GC c.2440_2441delinsGC p.Leu814Ala Missense 21/29 - 1
7-87165838-T-G c.2417A>C p.Asp806Ala Missense 21/29 - 1
7-87165839-C-T c.2416G>A p.Asp806Asn Missense 21/29 - 2
7-87165841-TC-TG c.2413delinsC p.Asp805His Missense 21/29 - 3
7-87165841-T-G c.2414A>C p.Asp805Ala Missense 21/29 - 2
7-87165842-C-T c.2413G>A p.Asp805Asn Missense 21/29 - 1
7-87165843-AA-GG c.2411_2412delinsCC p.Phe804Ser Missense 21/29 - 1
7-87165844-AA-GA c.2411delinsC p.Phe804Ser Missense 21/29 - 2
7-87165844-AA-GC c.2410_2411delinsGC p.Phe804Ala Missense 21/29 - 2
7-87165844-A-C c.2411T>G p.Phe804Cys Missense 21/29 - 1
7-87165844-A-G c.2411T>C p.Phe804Ser Missense 21/29 - 1
7-87165844-A-T c.2411T>A p.Phe804Tyr Missense 21/29 - 1
7-87165843-A-C c.2412T>G p.Phe804Leu Missense 21/29 - 1
7-87165843-A-T c.2412T>A p.Phe804Leu Missense 21/29 - 1
7-87165845-A-G c.2410T>C p.Phe804Leu Missense 21/29 - 1
7-87165846-C-A c.2409G>T p.Trp803Cys Missense 21/29 - 4
7-87165846-CCA-GAC c.2407_2409delinsGTC p.Trp803Val Missense 21/29 - 1
7-87165846-CC-AT c.2408_2409delinsAT p.Trp803Tyr Missense 21/29 - 1
7-87165846-CC-TT c.2408_2409delinsAA p.Trp803* Missense 21/29 - 1
7-87165846-C-G c.2409G>C p.Trp803Cys Missense 21/29 - 4
7-87165847-C-A c.2408G>T p.Trp803Leu Missense 21/29 - 1
7-87165847-CA-GC c.2407_2408delinsGC p.Trp803Ala Missense 21/29 - 1
7-87165847-C-G c.2408G>C p.Trp803Ser Missense 21/29 - 1
7-87165850-CT-GC c.2404_2405delinsGC p.Ser802Ala Missense 21/29 - 1
7-87165853-AC-TC c.2402delinsA p.Val801Glu Missense 21/29 - 1
7-87165854-C-T c.2401G>A p.Val801Met Missense 21/29 - 1
7-87165856-T-G c.2399A>C p.Asp800Ala Missense 21/29 - 1
7-87165857-C-T c.2398G>A p.Asp800Asn Missense 21/29 - 1
7-87168027-C-T c.2397+557G>A - IntronicSNV - 20/28 3
7-87168591-AG-GC c.2389_2390delinsGC p.Leu797Ala Missense 20/29 - 1
7-87168603-AA-GC c.2377_2378delinsGC p.Phe793Ala Missense 20/29 - 1
7-87168612-TA-GC c.2368_2369delinsGC p.Tyr790Ala Missense 20/29 - 1
7-87168615-CG-GC c.2365_2366delinsGC p.Arg789Ala Missense 20/29 - 1
7-87168749-C-G c.2320-88G>C - IntronicSNV - 19/28 2
7-87168749-C-T c.2320-88G>A - IntronicSNV - 19/28 2
7-87169037-C-T c.2320-376G>A - IntronicSNV - 19/28 1
7-87169356-C-T c.2320-695G>A - IntronicSNV - 19/28 6
7-87169669-T-C c.2319+1004A>G - IntronicSNV - 19/28 2
7-87169702-A-C c.2319+971T>G - IntronicSNV - 19/28 8
7-87170674-T-C c.2318A>G p.Gln773Arg Missense 19/29 - 4
7-87170674-TG-GC c.2317_2318delinsGC p.Gln773Ala Missense 19/29 - 1
7-87170677-A-T c.2315T>A p.Leu772His Missense 19/29 - 1
7-87170683-AA-CG c.2308_2309delinsCG p.Phe770Arg Missense 19/29 - 1
7-87170683-A-C c.2309T>G p.Phe770Cys Missense 19/29 - 1
7-87170695-GA-CG c.2296_2297delinsCG p.Ser766Arg Missense 19/29 - 1
7-87170701-AT-TG c.2290_2291delinsCA p.Ile764His Missense 19/29 - 1
7-87170703-TCC-TGT c.2287_2288delinsAC p.Gly763Thr Missense 19/29 - 1
7-87170707-AG-TG c.2285delinsA p.Leu762His Missense 19/29 - 1
7-87170710-GC-TG c.2281_2282delinsCA p.Ala761His Missense 19/29 - 1
7-87170712-TAG-TGT c.2278_2279delinsAC p.Leu760Thr Missense 19/29 - 1
7-87170716-A-C c.2276T>G p.Phe759Cys Missense 19/29 - 1
7-87170769-TCT-TGT c.2222delinsC p.Arg741Thr Missense 19/29 - 2
7-87170770-C-A c.2222G>T p.Arg741Ile Missense 19/29 - 1
7-87171152-T-C c.2212-372A>G - IntronicSNV - 18/28 4
7-87171383-G-A c.2212-603C>T - IntronicSNV - 18/28 1
7-87171527-T-C c.2212-747A>G - IntronicSNV - 18/28 2
7-87171659-T-C c.2212-879A>G - IntronicSNV - 18/28 2
7-87172881-C-T c.2211+564G>A - IntronicSNV - 18/28 1
7-87173461-AA-CG c.2194_2195delinsCG p.Phe732Arg Missense 18/29 - 1
7-87173461-A-C c.2195T>G p.Phe732Cys Missense 18/29 - 1
7-87173463-TAT-TGT c.2192delinsC p.Ile731Thr Missense 18/29 - 2
7-87173466-TAT-TGT c.2189delinsC p.Ile730Thr Missense 18/29 - 2
7-87173469-TGC-TGT c.2185delinsA p.Ala729Thr Missense 18/29 - 2
7-87173473-AA-CG c.2182_2183delinsCG p.Phe728Arg Missense 18/29 - 2
7-87173473-AA-GC c.2182_2183delinsGC p.Phe728Ala Missense 18/29 - 1
7-87173473-A-C c.2183T>G p.Phe728Cys Missense 18/29 - 10
7-87173475-TGC-TGT c.2179delinsA p.Ala727Thr Missense 18/29 - 2
7-87173478-TGG-TGT c.2176delinsA p.Pro726Thr Missense 18/29 - 1
7-87173481-TTG-TGT c.2173_2174delinsAC p.Gln725Thr Missense 18/29 - 4
7-87173482-T-A c.2174A>T p.Gln725Leu Missense 18/29 - 1
7-87173482-T-C c.2174A>G p.Gln725Arg Missense 18/29 - 3
7-87173482-TG-GC c.2173_2174delinsGC p.Gln725Ala Missense 18/29 - 3
7-87173484-CAG-TGT c.2170_2172delinsACA p.Leu724Thr Missense 18/29 - 1
7-87173489-C-A c.2167G>T p.Gly723Cys Missense 18/29 - 1
7-87173490-TCC-TGT c.2164_2165delinsAC p.Gly722Thr Missense 18/29 - 1
7-87173491-C-G c.2165G>C p.Gly722Ala Missense 18/29 - 1
7-87173493-AT-GG c.2162_2163delinsCC p.Asn721Thr Missense 18/29 - 1
7-87173494-TT-TG c.2161delinsC p.Asn721His Missense 18/29 - 1
7-87173496-TAT-TGT c.2159delinsC p.Ile720Thr Missense 18/29 - 1
7-87173500-AT-TG c.2155_2156delinsCA p.Ile719His Missense 18/29 - 1
7-87173503-GC-TG c.2152_2153delinsCA p.Ala718His Missense 18/29 - 1
7-87173505-A-G c.2151T>C p.Cys717Cys Synonymous 18/29 - 1
7-87173509-A-C c.2147T>G p.Phe716Cys Missense 18/29 - 1
7-87173511-TAC-ATG c.2143_2145delinsCAT p.Val715His Missense 18/29 - 1
7-87173511-TAC-TGT c.2143_2144delinsAC p.Val715Thr Missense 18/29 - 1
7-87173516-C-A c.2140G>T p.Gly714Cys Missense 18/29 - 1
7-87173518-AC-TG c.2137_2138delinsCA p.Val713His Missense 18/29 - 1
7-87173521-AC-TG c.2134_2135delinsCA p.Val712His Missense 18/29 - 1
7-87173524-A-C c.2132T>G p.Phe711Cys Missense 18/29 - 1
7-87173531-G-C c.2125C>G p.Pro709Ala Missense 18/29 - 2
7-87173570-A-G c.2086T>C p.Ser696Pro Missense 18/29 - 1
7-87173667-A-T c.2065-76T>A - IntronicSNV - 17/28 7
7-87174066-T-A c.2064+73A>T - IntronicSNV - 17/28 11
7-87174066-T-C c.2064+73A>G - IntronicSNV - 17/28 11
7-87174066-T-G c.2064+73A>C - IntronicSNV - 17/28 11
7-87174161-TT-GC c.2041_2042delinsGC p.Lys681Ala Missense 17/29 - 1
7-87174198-G-A c.2005C>T p.Arg669Cys Missense 17/29 - 6
7-87174218-A-C c.1985T>G p.Leu662Arg Missense 17/29 - 4
7-87174243-A-G c.1960T>C p.Ser654Pro Missense 17/29 - 1
7-87174297-C-G c.1906G>C p.Glu636Gln Missense 17/29 - 1
7-87174504-C-A c.1888-189G>T - IntronicSNV - 16/28 3
7-87174504-C-T c.1888-189G>A - IntronicSNV - 16/28 3
7-87175196-T-C c.1870A>G p.Lys624Glu Missense 16/29 - 1
7-87175234-TT-TG c.1831delinsC p.Asn611His Missense 16/29 - 1
7-87175271-C-T c.1795G>A p.Ala599Thr Missense 16/29 - 2
7-87175282-G-C c.1784C>G p.Ala595Gly Missense 16/29 - 1
7-87175304-G-A c.1762C>T p.Arg588Cys Missense 16/29 - 1
7-87175313-T-C c.1753A>G p.Ile585Val Missense 16/29 - 3
7-87175328-G-A c.1738C>T p.Arg580Trp Missense 16/29 - 1
7-87175331-C-A c.1735G>T p.Gly579Cys Missense 16/29 - 1
7-87175444-C-T c.1726-104G>A - IntronicSNV - 15/28 1
7-87176430-C-T c.1726-1090G>A - IntronicSNV - 15/28 1
7-87176463-A-G c.1726-1123T>C - IntronicSNV - 15/28 3
7-87176463-A-T c.1726-1123T>A - IntronicSNV - 15/28 3
7-87178626-C-T c.1725+38G>A - IntronicSNV - 15/28 12
7-87178693-C-T c.1696G>A p.Glu566Lys Missense 15/29 - 1
7-87178716-G-A c.1673C>T p.Thr558Met Missense 15/29 - 1
7-87178723-C-G c.1666G>C p.Glu556Gln Missense 15/29 - 13
7-87178726-C-T c.1663G>A p.Asp555Asn Missense 15/29 - 1
7-87178727-C-G c.1662G>C p.Leu554Leu Synonymous 15/29 - 1
7-87178727-C-T c.1662G>A p.Leu554Leu Synonymous 15/29 - 1
7-87178730-C-G c.1659G>C p.Leu553Leu Synonymous 15/29 - 1
7-87178730-C-T c.1659G>A p.Leu553Leu Synonymous 15/29 - 1
7-87178741-T-A c.1648A>T p.Lys550* Nonsense 15/29 - 1
7-87178750-G-A c.1639C>T p.Arg547Cys Missense 15/29 - 1
7-87178762-G-A c.1627C>T p.Arg543Cys Missense 15/29 - 1
7-87178770-GC-CG c.1618_1619delinsCG p.Ala540Arg Missense 15/29 - 1
7-87178770-GC-TT c.1618_1619delinsAA p.Ala540Asn Missense 15/29 - 1
7-87178796-CA-GT c.1592_1593delinsAC p.Leu531Tyr Missense 15/29 - 1
7-87178819-C-T c.1570G>A p.Val524Ile Missense 15/29 - 1
7-87179086-G-A c.1554+81C>T - IntronicSNV - 14/28 6
7-87179143-A-G c.1554+24T>C - IntronicSNV - 14/28 13
7-87179171-GG-TG c.1550delinsA p.Pro517His Missense 14/29 - 3
7-87179205-C-G c.1516G>C p.Glu506Gln Missense 14/29 - 2
7-87179215-T-C c.1506A>G p.Lys502Lys Synonymous 14/29 - 1
7-87179220-C-G c.1501G>C p.Glu501Gln Missense 14/29 - 1
7-87179251-CATA-C c.1468_1470del p.Tyr490del InFrameDeletion 14/29 - 1
7-87179252-T-C c.1469A>G p.Tyr490Cys Missense 14/29 - 1
7-87179296-C-A c.1425G>T p.Gln475His Missense 14/29 - 1
7-87179296-C-G c.1425G>C p.Gln475His Missense 14/29 - 1
7-87179297-TG-GC c.1423_1424delinsGC p.Gln475Ala Missense 14/29 - 1
7-87179300-C-T c.1421G>A p.Ser474Asn Missense 14/29 - 1
7-87179301-T-A c.1420A>T p.Ser474Cys Missense 14/29 - 1
7-87179322-G-A c.1399C>T p.Arg467Trp Missense 14/29 - 1
7-87179342-G-T c.1379C>A p.Thr460Asn Missense 14/29 - 1
7-87179361-C-T c.1360G>A p.Asp454Asn Missense 14/29 - 1
7-87179443-G-A c.1350+44C>T - IntronicSNV - 13/28 8
7-87179495-C-T c.1342G>A p.Glu448Lys Missense 13/29 - 1
7-87179498-T-C c.1339A>G p.Thr447Ala Missense 13/29 - 1
7-87179505-A-C c.1332T>G p.Tyr444* Nonsense 13/29 - 1
7-87179505-A-T c.1332T>A p.Tyr444* Nonsense 13/29 - 1
7-87179505-ATA-GAG c.1330_1332delinsCTC p.Tyr444Leu Missense 13/29 - 1
7-87179506-T-A c.1331A>T p.Tyr444Phe Missense 13/29 - 1
7-87179506-TA-CG c.1330_1331delinsCG p.Tyr444Arg Missense 13/29 - 1
7-87179506-TA-CT c.1330_1331delinsAG p.Tyr444Ser Missense 13/29 - 1
7-87179506-TA-GC c.1330_1331delinsGC p.Tyr444Ala Missense 13/29 - 1
7-87179508-GAG-TAA c.1327_1329delinsTTA p.Leu443Leu Nonsense 13/29 - 1
7-87179509-A-C c.1328T>G p.Leu443Arg Missense 13/29 - 1
7-87179509-AG-GC c.1327_1328delinsGC p.Leu443Ala Missense 13/29 - 1
7-87179509-AG-TG c.1328delinsA p.Leu443His Missense 13/29 - 4
7-87179510-G-A c.1327C>T p.Leu443Phe Missense 13/29 - 2
7-87179532-T-C c.1305A>G p.Thr435Thr Synonymous 13/29 - 1
7-87179536-C-A c.1301G>T p.Ser434Ile Missense 13/29 - 1
7-87179539-T-A c.1298A>T p.Lys433Met Missense 13/29 - 1
7-87179544-A-C c.1293T>G p.Cys431Trp Missense 13/29 - 2
7-87179545-C-A c.1292G>T p.Cys431Phe Missense 13/29 - 1
7-87179545-CA-CT c.1291delinsA p.Cys431Ser Missense 13/29 - 1
7-87179545-CA-GC c.1291_1292delinsGC p.Cys431Ala Missense 13/29 - 1
7-87179575-T-C c.1262A>G p.Gln421Arg Missense 13/29 - 1
7-87179581-C-G c.1256G>C p.Ser419Thr Missense 13/29 - 1
7-87179586-CAC-ATC c.1250_1251delinsAT p.Val417Asp Missense 13/29 - 3
7-87179601-A-C c.1236T>G p.Gly412Gly Synonymous 13/29 - 62
7-87179601-A-G c.1236T>C p.Gly412Gly Synonymous 13/29 - 391
7-87179601-A-T c.1236T>A p.Gly412Gly Synonymous 13/29 - 62
7-87179616-C-T c.1225-4G>A - IntronicSNV - 12/28 2
7-87179695-T-C c.1225-83A>G - IntronicSNV - 12/28 1
7-87179800-G-T c.1208C>A p.Ser403Tyr Missense 12/29 - 1
7-87179806-TA-GC c.1201_1202delinsGC p.Tyr401Ala Missense 12/29 - 2
7-87179809-C-A c.1199G>T p.Ser400Ile Missense 12/29 - 21
7-87179809-C-G c.1199G>C p.Ser400Thr Missense 12/29 - 1
7-87179809-C-T c.1199G>A p.Ser400Asn Missense 12/29 - 43
7-87179824-C-G c.1184G>C p.Arg395Thr Missense 12/29 - 1
7-87179839-C-A c.1169G>T p.Gly390Val Missense 12/29 - 1
7-87179862-CCC-TTT c.1144_1146delinsAAA p.Gly382Lys Missense 12/29 - 1
7-87179869-TT-GC c.1138_1139delinsGC p.Lys380Ala Missense 12/29 - 1
7-87180104-TGG-TGT c.1048delinsA p.Pro350Thr Missense 11/29 - 1
7-87180114-T-C c.1040A>G p.Gln347Arg Missense 11/29 - 1
7-87180116-TCC-TGT c.1036_1037delinsAC p.Gly346Thr Missense 11/29 - 2
7-87180122-A-C c.1032T>G p.Ser344Arg Missense 11/29 - 1
7-87180122-A-T c.1032T>A p.Ser344Arg Missense 11/29 - 1
7-87180124-T-G c.1030A>C p.Ser344Arg Missense 11/29 - 1
7-87180126-AA-CG c.1027_1028delinsCG p.Phe343Arg Missense 11/29 - 3
7-87180126-A-C c.1028T>G p.Phe343Cys Missense 11/29 - 8
7-87180126-A-T c.1028T>A p.Phe343Tyr Missense 11/29 - 1
7-87180133-C-CC c.1024dup p.Ala342Glyfs*3 Frameshift 11/29 - 1
7-87180134-AA-GG c.1019_1020delinsCC p.Ile340Thr Missense 11/29 - 1
7-87180135-AT-TG c.1018_1019delinsCA p.Ile340His Missense 11/29 - 1
7-87180137-TA-GT c.1016_1017delinsAC p.Leu339Tyr Missense 11/29 - 9
7-87180138-AA-AG c.1015delinsC p.Leu339Leu Missense 11/29 - 1
7-87180141-AC-AG c.1012delinsC p.Val338Leu Missense 11/29 - 1
7-87180147-AA-CG c.1006_1007delinsCG p.Phe336Arg Missense 11/29 - 3
7-87180147-AA-GC c.1006_1007delinsGC p.Phe336Ala Missense 11/29 - 1
7-87180150-AA-GC c.1003_1004delinsGC p.Phe335Ala Missense 11/29 - 2
7-87180150-A-C c.1004T>G p.Phe335Cys Missense 11/29 - 2
7-87180198-C-A c.1000-44G>T - IntronicSNV - 10/28 16
7-87180198-C-T c.1000-44G>A - IntronicSNV - 10/28 18
7-87180678-A-T c.1000-524T>A - IntronicSNV - 10/28 1
7-87181175-C-A c.1000-1021G>T - IntronicSNV - 10/28 2
7-87181175-C-T c.1000-1021G>A - IntronicSNV - 10/28 2
7-87181418-C-A c.1000-1264G>T - IntronicSNV - 10/28 2
7-87181849-G-T c.999+1228C>A - IntronicSNV - 10/28 3
7-87182779-G-C c.999+298C>G - IntronicSNV - 10/28 1
7-87182779-G-T c.999+298C>A - IntronicSNV - 10/28 1
7-87182882-T-C c.999+195A>G - IntronicSNV - 10/28 1
7-87183078-GT-TG c.997_998delinsCA p.Thr333His Missense 10/29 - 3
7-87183080-GAG-ATG c.995_996delinsAT p.Leu332His Missense 10/29 - 1
7-87183081-AG-TG c.995delinsA p.Leu332His Missense 10/29 - 3
7-87183084-A-G c.992T>C p.Val331Ala Missense 10/29 - 1
7-87183086-TTG-AAC c.988_990delinsGTT p.Gln330Val Missense 10/29 - 1
7-87183104-CCC-TGT c.970_972delinsACA p.Gly324Thr Missense 10/29 - 1
7-87183131-C-A c.945G>T p.Trp315Cys Missense 10/29 - 1
7-87183131-C-G c.945G>C p.Trp315Cys Missense 10/29 - 1
7-87183138-G-C c.938C>G p.Ala313Gly Missense 10/29 - 4
7-87183147-T-A c.929A>T p.Tyr310Phe Missense 10/29 - 2
7-87183147-TA-CG c.928_929delinsCG p.Tyr310Arg Missense 10/29 - 1
7-87183147-TA-GC c.928_929delinsGC p.Tyr310Ala Missense 10/29 - 3
7-87183150-GA-CG c.925_926delinsCG p.Ser309Arg Missense 10/29 - 1
7-87183153-G-C c.923C>G p.Ala308Gly Missense 10/29 - 1
7-87183156-T-A c.920A>T p.Tyr307Phe Missense 10/29 - 1
7-87183156-TA-CG c.919_920delinsCG p.Tyr307Arg Missense 10/29 - 1
7-87183156-TA-GC c.919_920delinsGC p.Tyr307Ala Missense 10/29 - 3
7-87183156-T-C c.920A>G p.Tyr307Cys Missense 10/29 - 3
7-87183157-A-G c.919T>C p.Tyr307His Missense 10/29 - 1
7-87183158-GA-GG c.917delinsC p.Ile306Thr Missense 10/29 - 4
7-87183159-AT-TG c.916_917delinsCA p.Ile306His Missense 10/29 - 9
7-87183161-CAG-TTT c.913_915delinsAAA p.Leu305Lys Missense 10/29 - 1
7-87183163-G-C c.913C>G p.Leu305Val Missense 10/29 - 1
7-87183168-AA-CG c.907_908delinsCG p.Phe303Arg Missense 10/29 - 2
7-87183167-G-C c.909C>G p.Phe303Leu Missense 10/29 - 1
7-87183167-G-T c.909C>A p.Phe303Leu Missense 10/29 - 1
7-87183169-A-G c.907T>C p.Phe303Leu Missense 10/29 - 1
7-87183171-GC-CG c.904_905delinsCG p.Ala302Arg Missense 10/29 - 2
7-87183177-C-A c.899G>T p.Gly300Val Missense 10/29 - 1
7-87183179-TAT-TGT c.896delinsC p.Ile299Thr Missense 10/29 - 3
7-87183180-A-C c.896T>G p.Ile299Arg Missense 10/29 - 1
7-87183192-GC-TG c.883_884delinsCA p.Ala295His Missense 10/29 - 2
7-87183205-T-A c.871A>T p.Lys291* Nonsense 10/29 - 1
7-87183221-T-A c.855A>T p.Lys285Asn Missense 10/29 - 1
7-87183221-T-G c.855A>C p.Lys285Asn Missense 10/29 - 1
7-87183234-A-G c.842T>C p.Leu281Ser Missense 10/29 - 1
7-87183235-A-C c.841T>G p.Leu281Val Missense 10/29 - 1
7-87183246-TA-GC c.829_830delinsGC p.Tyr277Ala Missense 10/29 - 1
7-87183354-T-A c.828-106A>T - IntronicSNV - 9/28 2
7-87183354-T-C c.828-106A>G - IntronicSNV - 9/28 2
7-87183666-A-AA c.828-405dup - IntronicInsertion - 9/28 1
7-87185894-G-A c.828-2646C>T - IntronicSNV - 9/28 2
7-87186018-C-G c.828-2770G>C - IntronicSNV - 9/28 2
7-87186018-C-T c.828-2770G>A - IntronicSNV - 9/28 2
7-87189930-T-G c.827+649A>C - IntronicSNV - 9/28 9
7-87190086-A-G c.827+493T>C - IntronicSNV - 9/28 1
7-87190452-C-T c.827+127G>A - IntronicSNV - 9/28 7
7-87190579-CT-GC c.826_827delinsGC p.Arg276Ala Missense 9/29 - 2
7-87190597-TG-GC c.808_809delinsGC p.Gln270Ala Missense 9/29 - 1
7-87190600-C-A c.806G>T p.Gly269Val Missense 9/29 - 2
7-87190603-C-A c.803G>T p.Gly268Val Missense 9/29 - 5
7-87190606-AA-GC c.799_800delinsGC p.Phe267Ala Missense 9/29 - 2
7-87190606-A-C c.800T>G p.Phe267Cys Missense 9/29 - 1
7-87190608-TG-AC c.797_798delinsGT p.Ala266Gly Missense 9/29 - 1
7-87190608-TGC-TAT c.796_797delinsAT p.Ala266Ile Missense 9/29 - 1
7-87190608-TGC-TGG c.796delinsC p.Ala266Pro Missense 9/29 - 1
7-87190608-TGC-TGT c.796delinsA p.Ala266Thr Missense 9/29 - 6
7-87190608-TGC-TTT c.796_797delinsAA p.Ala266Lys Missense 9/29 - 1
7-87190609-GC-CT c.796_797delinsAG p.Ala266Arg Missense 9/29 - 1
7-87190610-C-A c.796G>T p.Ala266Ser Missense 9/29 - 1
7-87190612-A-C c.794T>G p.Ile265Ser Missense 9/29 - 2
7-87190615-AC-TC c.791delinsA p.Val264Glu Missense 9/29 - 2
7-87190619-T-C c.787A>G p.Thr263Ala Missense 9/29 - 2
7-87190621-CT-GC c.784_785delinsGC p.Arg262Ala Missense 9/29 - 2
7-87190624-A-C c.782T>G p.Ile261Ser Missense 9/29 - 2
7-87190625-T-C c.781A>G p.Ile261Val Missense 9/29 - 1
7-87190627-GC-CT c.778_779delinsAG p.Ala260Arg Missense 9/29 - 1
7-87190629-TGC-TGT c.775delinsA p.Ala259Thr Missense 9/29 - 4
7-87190630-GC-CT c.775_776delinsAG p.Ala259Arg Missense 9/29 - 1
7-87190633-A-G c.773T>C p.Leu258Ser Missense 9/29 - 1
7-87190639-T-G c.767A>C p.Glu256Ala Missense 9/29 - 2
7-87190641-T-A c.765A>T p.Glu255Asp Missense 9/29 - 1
7-87190641-T-G c.765A>C p.Glu255Asp Missense 9/29 - 1
7-87190642-T-A c.764A>T p.Glu255Val Missense 9/29 - 8
7-87190643-C-T c.763G>A p.Glu255Lys Missense 9/29 - 11
7-87190645-GC-CT c.760_761delinsAG p.Ala254Ser Missense 9/29 - 1
7-87190648-AC-TC c.758delinsA p.Val253Glu Missense 9/29 - 1
7-87190654-C-A c.752G>T p.Gly251Val Missense 9/29 - 9
7-87190657-G-A c.749C>T p.Ala250Val Missense 9/29 - 1
7-87190657-GC-CT c.748_749delinsAG p.Ala250Ser Missense 9/29 - 1
7-87190657-GC-TG c.748_749delinsCA p.Ala250His Missense 9/29 - 1
7-87190664-C-T c.742G>A p.Ala248Thr Missense 9/29 - 1
7-87190669-G-A c.737C>T p.Ala246Val Missense 9/29 - 1
7-87190698-TAG-TGT c.706_707delinsAC p.Leu236Thr Missense 9/29 - 1
7-87190701-TAT-TGT c.704delinsC p.Ile235Thr Missense 9/29 - 1
7-87190703-T-A c.703A>T p.Ile235Leu Missense 9/29 - 1
7-87190703-T-G c.703A>C p.Ile235Leu Missense 9/29 - 1
7-87191246-G-A c.703-543C>T - IntronicSNV - 8/28 1
7-87191669-C-G c.703-966G>C - IntronicSNV - 8/28 3
7-87192275-C-T c.703-1572G>A - IntronicSNV - 8/28 2
7-87192731-G-A c.703-2028C>T - IntronicSNV - 8/28 1
7-87193597-G-A c.702+1789C>T - IntronicSNV - 8/28 2
7-87195106-C-T c.702+280G>A - IntronicSNV - 8/28 2
7-87195389-T-C c.699A>G p.Ala233Ala Synonymous 8/29 - 1
7-87195389-TGC-TGT c.697delinsA p.Ala233Thr Missense 8/29 - 1
7-87195392-C-A c.696G>T p.Trp232Cys Missense 8/29 - 1
7-87195392-C-G c.696G>C p.Trp232Cys Missense 8/29 - 1
7-87195394-A-G c.694T>C p.Trp232Arg Missense 8/29 - 2
7-87195394-A-T c.694T>A p.Trp232Arg Missense 8/29 - 2
7-87195396-AC-CG c.691_692delinsCG p.Val231Arg Missense 8/29 - 1
7-87195396-AC-TG c.691_692delinsCA p.Val231His Missense 8/29 - 1
7-87195399-GC-CG c.688_689delinsCG p.Ala230Arg Missense 8/29 - 1
7-87195407-CAG-TGT c.679_681delinsACA p.Leu227Thr Missense 8/29 - 1
7-87195414-A-C c.674T>G p.Leu225Arg Missense 8/29 - 2
7-87195421-G-C c.667C>G p.Pro223Ala Missense 8/29 - 1
7-87195424-T-A c.664A>T p.Ser222Cys Missense 8/29 - 1
7-87195425-GA-GG c.662delinsC p.Ile221Thr Missense 8/29 - 1
7-87195429-G-A c.659C>T p.Ala220Val Missense 8/29 - 1
7-87195434-AA-GG c.653_654delinsCC p.Ile218Thr Missense 8/29 - 1
7-87195438-A-AG c.649_650insC p.Val217Alafs*25 Frameshift 8/29 - 1
7-87195456-CC-AC c.632delinsT p.Gly211Val Missense 8/29 - 2
7-87195489-A-T c.599T>A p.Phe200Tyr Missense 8/29 - 2
7-87195492-G-A c.596C>T p.Thr199Ile Missense 8/29 - 1
7-87195492-G-C c.596C>G p.Thr199Arg Missense 8/29 - 2
7-87195501-GA-AG c.586_587delinsCT p.Ser196Leu Missense 8/29 - 1
7-87195504-T-C c.584A>G p.Gln195Arg Missense 8/29 - 1
7-87195516-C-G c.572G>C p.Gly191Ala Missense 8/29 - 1
7-87195517-C-G c.571G>C p.Gly191Arg Missense 8/29 - 3
7-87195517-C-T c.571G>A p.Gly191Arg Missense 8/29 - 3
7-87195533-T-A c.555A>T p.Gly185Gly Synonymous 8/29 - 1
7-87195533-TCC-TGT c.553_554delinsAC p.Gly185Thr Missense 8/29 - 1
7-87195534-C-A c.554G>T p.Gly185Val Missense 8/29 - 8
7-87195850-T-C c.530+251A>G - IntronicSNV - 7/28 9
7-87195962-G-A c.530+139C>T - IntronicSNV - 7/28 12
7-87196101-TC-TG c.529delinsC p.Asp177His Missense 7/29 - 2
7-87196107-AG-TG c.524delinsA p.Leu175His Missense 7/29 - 6
7-87196140-TC-TG c.490delinsC p.Asp164His Missense 7/29 - 4
7-87196140-T-G c.491A>C p.Asp164Ala Missense 7/29 - 4
7-87196141-C-T c.490G>A p.Asp164Asn Missense 7/29 - 1
7-87196143-A-C c.488T>G p.Phe163Cys Missense 7/29 - 1
7-87196149-C-A c.482G>T p.Gly161Val Missense 7/29 - 1
7-87196151-TAT-TGT c.479delinsC p.Ile160Thr Missense 7/29 - 1
7-87196151-T-C c.480A>G p.Ile160Met Missense 7/29 - 1
7-87196152-AT-GC c.478_479delinsGC p.Ile160Ala Missense 7/29 - 1
7-87196182-T-C c.449A>G p.Gln150Arg Missense 7/29 - 1
7-87196219-G-C c.412C>G p.Leu138Val Missense 7/29 - 1
7-87196220-G-A c.411C>T p.Cys137Cys Synonymous 7/29 - 1
7-87196222-A-G c.409T>C p.Cys137Arg Missense 7/29 - 1
7-87196225-A-G c.406T>C p.Trp136Arg Missense 7/29 - 1
7-87196225-A-T c.406T>A p.Trp136Arg Missense 7/29 - 1
7-87196230-GA-AG c.400_401delinsCT p.Ser134Leu Missense 7/29 - 1
7-87196233-AC-TG c.397_398delinsCA p.Val133His Missense 7/29 - 1
7-87196236-T-C c.395A>G p.Gln132Arg Missense 7/29 - 3
7-87196236-TG-GC c.394_395delinsGC p.Gln132Ala Missense 7/29 - 1
7-87196238-AA-GG c.392_393delinsCC p.Ile131Thr Missense 7/29 - 1
7-87196244-AGC-AAG c.385_386delinsCT p.Ala129Leu Missense 7/29 - 1
7-87196245-GC-CG c.385_386delinsCG p.Ala129Arg Missense 7/29 - 1
7-87196254-A-G c.377T>C p.Leu126Pro Missense 7/29 - 1
7-87197059-C-T c.339-767G>A - IntronicSNV - 6/28 3
7-87197594-G-A c.339-1302C>T - IntronicSNV - 6/28 1
7-87198459-G-A c.338+1029C>T - IntronicSNV - 6/28 1
7-87198459-G-T c.338+1029C>A - IntronicSNV - 6/28 1
7-87199182-G-A c.338+306C>T - IntronicSNV - 6/28 2
7-87199264-C-A c.338+224G>T - IntronicSNV - 6/28 1
7-87199265-T-A c.338+223A>T - IntronicSNV - 6/28 2
7-87199365-T-C c.338+123A>G - IntronicSNV - 6/28 2
7-87199506-AG-TC c.319_320delinsGA p.Leu107Glu Missense 6/29 - 1
7-87199517-G-C c.309C>G p.Phe103Leu Missense 6/29 - 2
7-87199517-G-T c.309C>A p.Phe103Leu Missense 6/29 - 2
7-87199519-A-G c.307T>C p.Phe103Leu Missense 6/29 - 2
7-87199528-TCATT-T c.296_299del p.Asn99Ilefs*6 Frameshift 6/29 - 1
7-87199530-TT-GC c.295_296delinsGC p.Asn99Ala Missense 6/29 - 1
7-87199564-C-A c.287-25G>T - IntronicSNV - 5/28 24
7-87199564-C-T c.287-25G>A - IntronicSNV - 5/28 24
7-87200467-T-A c.287-928A>T - IntronicSNV - 5/28 3
7-87200639-T-C c.287-1100A>G - IntronicSNV - 5/28 1
7-87200773-C-G c.287-1234G>C - IntronicSNV - 5/28 5
7-87201086-C-T c.287-1547G>A - IntronicSNV - 5/28 4
7-87201380-T-C c.287-1841A>G - IntronicSNV - 5/28 7
7-87201482-G-C c.287-1943C>G - IntronicSNV - 5/28 3
7-87202544-T-C c.287-3005A>G - IntronicSNV - 5/28 3
7-87202615-C-T c.287-3076G>A - IntronicSNV - 5/28 8
7-87203840-C-T c.287-4301G>A - IntronicSNV - 5/28 1
7-87204279-C-A c.287-4740G>T - IntronicSNV - 5/28 6
7-87204279-C-T c.287-4740G>A - IntronicSNV - 5/28 6
7-87205663-A-G c.287-6124T>C - IntronicSNV - 5/28 1
7-87205663-A-T c.287-6124T>A - IntronicSNV - 5/28 1
7-87206615-C-T c.287-7076G>A - IntronicSNV - 5/28 2
7-87209150-G-A c.286+5678C>T - IntronicSNV - 5/28 1
7-87209150-G-C c.286+5678C>G - IntronicSNV - 5/28 1
7-87209372-T-C c.286+5456A>G - IntronicSNV - 5/28 1
7-87210974-C-A c.286+3854G>T - IntronicSNV - 5/28 4
7-87210974-C-T c.286+3854G>A - IntronicSNV - 5/28 4
7-87211045-T-A c.286+3783A>T - IntronicSNV - 5/28 2
7-87211045-T-C c.286+3783A>G - IntronicSNV - 5/28 2
7-87212461-G-A c.286+2367C>T - IntronicSNV - 5/28 2
7-87212990-T-A c.286+1838A>T - IntronicSNV - 5/28 8
7-87213232-A-G c.286+1596T>C - IntronicSNV - 5/28 2
7-87213258-C-T c.286+1570G>A - IntronicSNV - 5/28 2
7-87213384-C-T c.286+1444G>A - IntronicSNV - 5/28 1
7-87213901-C-T c.286+927G>A - IntronicSNV - 5/28 6
7-87214833-TT-GC c.280_281delinsGC p.Asn94Ala Missense 5/29 - 1
7-87214842-TT-GC c.271_272delinsGC p.Asn91Ala Missense 5/29 - 1
7-87214848-A-G c.266T>C p.Met89Thr Missense 5/29 - 5
7-87214874-TGC-TGT c.238delinsA p.Ala80Thr Missense 5/29 - 2
7-87214875-G-C c.239C>G p.Ala80Gly Missense 5/29 - 5
7-87214875-G-T c.239C>A p.Ala80Glu Missense 5/29 - 1
7-87214876-C-G c.238G>C p.Ala80Pro Missense 5/29 - 1
7-87214886-CTGTC-C c.227_230del p.Thr76Ilefs*9 Frameshift 5/29 - 1
7-87214893-T-G c.221A>C p.Glu74Ala Missense 5/29 - 1
7-87214898-AA-GG c.215_216delinsCC p.Phe72Ser Missense 5/29 - 1
7-87214899-AA-CG c.214_215delinsCG p.Phe72Arg Missense 5/29 - 2
7-87214901-CAC-TGT c.211_213delinsACA p.Val71Thr Missense 5/29 - 1
7-87214902-AC-AG c.211delinsC p.Val71Leu Missense 5/29 - 1
7-87214904-CAG-TGT c.208_210delinsACA p.Leu70Thr Missense 5/29 - 1
7-87214905-A-C c.209T>G p.Leu70Arg Missense 5/29 - 1
7-87214907-CAT-TGT c.206_207delinsCA p.Met69Thr Missense 5/29 - 2
7-87214908-A-C c.206T>G p.Met69Arg Missense 5/29 - 2
7-87214910-CAT-TGT c.203_204delinsCA p.Met68Thr Missense 5/29 - 2
7-87214911-A-C c.203T>G p.Met68Arg Missense 5/29 - 3
7-87214914-A-C c.200T>G p.Leu67Arg Missense 5/29 - 1
7-87214914-AG-TG c.200delinsA p.Leu67His Missense 5/29 - 1
7-87214917-G-C c.197C>G p.Pro66Arg Missense 5/29 - 1
7-87214917-GG-TG c.197delinsA p.Pro66His Missense 5/29 - 1
7-87214918-G-C c.196C>G p.Pro66Ala Missense 5/29 - 1
7-87214920-A-C c.194T>G p.Leu65Arg Missense 5/29 - 3
7-87214920-AG-TG c.194delinsA p.Leu65His Missense 5/29 - 6
7-87214922-TCC-TGT c.190_191delinsAC p.Gly64Thr Missense 5/29 - 1
7-87214924-C-G c.190G>C p.Gly64Arg Missense 5/29 - 2
7-87214924-C-T c.190G>A p.Gly64Arg Missense 5/29 - 2
7-87214925-A-C c.189T>G p.Ala63Ala Synonymous 5/29 - 1
7-87214925-A-G c.189T>C p.Ala63Ala Synonymous 5/29 - 1
7-87214925-A-T c.189T>A p.Ala63Ala Synonymous 5/29 - 1
7-87214926-GC-CG c.187_188delinsCG p.Ala63Arg Missense 5/29 - 1
7-87214926-GC-TG c.187_188delinsCA p.Ala63His Missense 5/29 - 1
7-87214928-CCC-TGT c.184_186delinsACA p.Gly62Thr Missense 5/29 - 1
7-87214930-C-G c.184G>C p.Gly62Arg Missense 5/29 - 1
7-87214930-C-T c.184G>A p.Gly62Arg Missense 5/29 - 1
7-87214932-T-C c.182A>G p.His61Arg Missense 5/29 - 2
7-87214934-GA-GG c.179delinsC p.Ile60Thr Missense 5/29 - 1
7-87214935-AT-TG c.178_179delinsCA p.Ile60His Missense 5/29 - 1
7-87214937-GA-GG c.176delinsC p.Ile59Thr Missense 5/29 - 1
7-87214938-AT-TG c.175_176delinsCA p.Ile59His Missense 5/29 - 1
7-87214941-GC-CG c.172_173delinsCG p.Ala58Arg Missense 5/29 - 1
7-87214941-GC-TG c.172_173delinsCA p.Ala58His Missense 5/29 - 1
7-87214944-GC-CG c.169_170delinsCG p.Ala57Arg Missense 5/29 - 1
7-87214944-GC-TG c.169_170delinsCA p.Ala57His Missense 5/29 - 1
7-87214946-CA-GT c.167_168delinsAC p.Leu56Tyr Missense 5/29 - 1
7-87214947-AA-AG c.166delinsC p.Leu56Leu Missense 5/29 - 1
7-87214949-AG-GG c.165delinsC p.Thr55Thr Missense 5/29 - 1
7-87214950-GT-TG c.163_164delinsCA p.Thr55His Missense 5/29 - 1
7-87214952-TCC-TGT c.160_161delinsAC p.Gly54Thr Missense 5/29 - 1
7-87214954-C-G c.160G>C p.Gly54Arg Missense 5/29 - 1
7-87214954-C-T c.160G>A p.Gly54Arg Missense 5/29 - 1
7-87214955-CAC-TGT c.157_159delinsACA p.Val53Thr Missense 5/29 - 1
7-87214956-AC-AG c.157delinsC p.Val53Leu Missense 5/29 - 1
7-87214958-CAC-TGT c.154_156delinsACA p.Val52Thr Missense 5/29 - 1
7-87214959-AC-AG c.154delinsC p.Val52Leu Missense 5/29 - 1
7-87214961-CAT-TGT c.152_153delinsCA p.Met51Thr Missense 5/29 - 1
7-87214989-T-C c.125A>G p.Tyr42Cys Missense 5/29 - 1
7-87214993-G-A c.121C>T p.Arg41Cys Missense 5/29 - 1
7-87214994-A-G c.120T>C p.Phe40Phe Synonymous 5/29 - 1
7-87215114-A-C c.118-118T>G - IntronicSNV - 4/28 4
7-87215304-G-A c.118-308C>T - IntronicSNV - 4/28 1
7-87216150-G-A c.118-1154C>T - IntronicSNV - 4/28 3
7-87216817-G-A c.118-1821C>T - IntronicSNV - 4/28 7
7-87216817-G-T c.118-1821C>A - IntronicSNV - 4/28 7
7-87217215-T-A c.118-2219A>T - IntronicSNV - 4/28 1
7-87217215-T-C c.118-2219A>G - IntronicSNV - 4/28 1
7-87218347-A-G c.118-3351T>C - IntronicSNV - 4/28 2
7-87218347-A-T c.118-3351T>A - IntronicSNV - 4/28 2
7-87219481-G-A c.118-4485C>T - IntronicSNV - 4/28 3
7-87219481-G-C c.118-4485C>G - IntronicSNV - 4/28 3
7-87220334-T-A c.117+4748A>T - IntronicSNV - 4/28 3
7-87220334-T-C c.117+4748A>G - IntronicSNV - 4/28 3
7-87220562-C-T c.117+4520G>A - IntronicSNV - 4/28 3
7-87220886-A-G c.117+4196T>C - IntronicSNV - 4/28 26
7-87221216-A-G c.117+3866T>C - IntronicSNV - 4/28 6
7-87221798-C-A c.117+3284G>T - IntronicSNV - 4/28 1
7-87224251-C-T c.117+831G>A - IntronicSNV - 4/28 2
7-87224429-A-G c.117+653T>C - IntronicSNV - 4/28 1
7-87224948-C-G c.117+134G>C - IntronicSNV - 4/28 1
7-87225046-G-A c.117+36C>T - IntronicSNV - 4/28 2
7-87225088-A-C c.111T>G p.Phe37Leu Missense 4/29 - 1
7-87225088-A-T c.111T>A p.Phe37Leu Missense 4/29 - 1
7-87225090-A-G c.109T>C p.Phe37Leu Missense 4/29 - 1
7-87225098-A-G c.101T>C p.Val34Ala Missense 4/29 - 1
7-87225099-C-G c.100G>C p.Val34Leu Missense 4/29 - 1
7-87225119-T-A c.80A>T p.Lys27Met Missense 4/29 - 4
7-87225206-G-T c.69-76C>A - IntronicSNV - 3/28 2
7-87229006-T-C c.68+427A>G - IntronicSNV - 3/28 1
7-87229025-C-T c.68+408G>A - IntronicSNV - 3/28 2
7-87229440-T-A c.61A>T p.Asn21Tyr Missense 3/29 - 33
7-87229440-T-C c.61A>G p.Asn21Asp Missense 3/29 - 46
7-87229440-T-G c.61A>C p.Asn21His Missense 3/29 - 33
7-87229450-A-G c.51T>C p.Phe17Phe Synonymous 3/29 - 2
7-87229458-T-C c.43A>G p.Asn15Asp Missense 3/29 - 1
7-87229468-TG-AC c.32_33delinsGT p.Ala11Gly Missense 3/29 - 1
7-87229495-GATC-G c.4_6del p.Asp2del InFrameDeletion 3/29 - 1
7-87229501-T-A c.-1A>T - 5-UTRSNV 3/29 - 8
7-87229501-T-C c.-1A>G - 5-UTRSNV 3/29 - 8
7-87229686-A-C c.-6-180T>G - IntronicSNV - 2/28 1
7-87229931-G-T c.-7+140C>A - intron_variant - 2/28 1
7-87230107-T-C c.-43A>G - 5_prime_UTR_variant 2/29 - 1
7-87230193-A-G c.-129T>C - 5_prime_UTR_variant 2/29 - 37
7-87230305-C-T c.-241G>A - 5_prime_UTR_variant 2/29 - 1
7-87230435-T-C c.-330-41A>G - intron_variant - 1/28 5
7-87230454-T-A c.-330-60A>T - intron_variant - 1/28 1
7-87230454-T-C c.-330-60A>G - intron_variant - 1/28 1
7-87230462-C-G c.-330-68G>C - intron_variant - 1/28 1
7-87230462-C-T c.-330-68G>A - intron_variant - 1/28 1
7-87230514-T-A c.-330-684A>T - IntronicSNV - 1/28 1
7-87230525-T-C c.-330-131A>G - intron_variant - 1/28 1
7-87230617-G-A c.-330-223C>T - intron_variant - 1/28 1
7-87230654-A-G c.-330-824T>C - IntronicSNV - 1/28 1
7-87230668-C-T c.-330-274G>A - intron_variant - 1/28 1
7-87230691-T-C c.-330-297A>G - intron_variant - 1/28 1
7-87230847-A-G c.-330-1017T>C - IntronicSNV - 1/28 1
7-87230890-C-A c.-330-496G>T - intron_variant - 1/28 1
7-87230890-C-T c.-330-496G>A - intron_variant - 1/28 1
7-87231467-G-T c.-330-1073C>A - intron_variant - 1/28 1
7-87231551-C-G c.-330-1157G>C - intron_variant - 1/28 1
7-87231551-C-T c.-330-1157G>A - intron_variant - 1/28 1
7-87231561-G-A c.-330-1167C>T - intron_variant - 1/28 1
7-87231754-G-A c.-330-1360C>T - intron_variant - 1/28 1
7-87231853-C-T c.-330-1459G>A - intron_variant - 1/28 4
7-87231897-T-C c.-330-1503A>G - intron_variant - 1/28 1
7-87231911-A-G c.-330-1517T>C - intron_variant - 1/28 2
7-87231966-T-A c.-330-1572A>T - intron_variant - 1/28 1
7-87233038-G-A c.-330-3208C>T - IntronicSNV - 1/28 14
7-87233485-T-A c.-330-3655A>T - IntronicSNV - 1/28 7
7-87233485-T-C c.-330-3655A>G - IntronicSNV - 1/28 7
7-87244960-C-T c.-330-14566G>A - intron_variant - 1/28 8
7-87251641-A-G c.-330-21247T>C - intron_variant - 1/28 4
7-87256602-T-C c.-330-26208A>G - intron_variant - 1/28 1
7-87257840-G-A c.-330-28010C>T - IntronicSNV - 1/28 1
7-87261736-T-C c.-330-31342A>G - intron_variant - 1/28 3
7-87262581-G-A c.-330-32187C>T - intron_variant - 1/28 6
7-87270500-T-A c.-330-40106A>T - intron_variant - 1/28 5
7-87271274-A-G c.-330-41444T>C - IntronicSNV - 1/28 2
7-87274543-C-T c.-330-44713G>A - IntronicSNV - 1/28 1
7-87275641-A-G c.-330-45247T>C - intron_variant - 1/28 2
7-87278760-G-A c.-330-48366C>T - intron_variant - 1/28 4
7-87297189-C-T c.-331+45288G>A - intron_variant - 1/28 1
7-87298868-A-G c.-331+43609T>C - intron_variant - 1/28 1
7-87298868-A-T c.-331+43609T>A - intron_variant - 1/28 1
7-87302140-A-G c.-331+40337T>C - intron_variant - 1/28 1
7-87315881-G-A c.-331+26596C>T - intron_variant - 1/28 1
7-87324386-G-A c.-331+18091C>T - intron_variant - 1/28 1
7-87326125-T-G c.-331+16352A>C - intron_variant - 1/28 1
7-87330101-A-T c.-331+12376T>A - intron_variant - 1/28 2
7-87330423-G-A c.-331+12054C>T - intron_variant - 1/28 1
7-87331316-A-G c.-331+11161T>C - intron_variant - 1/28 1
7-87331965-T-C c.-331+10512A>G - intron_variant - 1/28 1
7-87331965-T-G c.-331+10512A>C - intron_variant - 1/28 1
7-87334841-T-C c.-331+7636A>G - intron_variant - 1/28 1
7-87342586-A-C c.-440T>G - 5_prime_UTR_variant 1/29 - 1
7-87342586-A-G c.-440T>C - 5_prime_UTR_variant 1/29 - 1