Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
14-73945314-G-C | c.3078C>G | p.L1026= | Synonymous | 18/18 | - | 1 |
14-73945316-G-A | c.3076C>T | p.L1026F | Missense | 18/18 | - | 2 |
14-73945319-G-A | c.3073C>T | p.H1025Y | Missense | 18/18 | - | 1 |
14-73945320-A-G | c.3072T>C | p.A1024= | Synonymous | 18/18 | - | 1 |
14-73945324-C-T | c.3068G>A | p.G1023D | Missense | 18/18 | - | 1 |
14-73945325-C-A | c.3067G>T | p.G1023C | Missense | 18/18 | - | 1 |
14-73945325-C-T | c.3067G>A | p.G1023S | Missense | 18/18 | - | 1 |
14-73945334-C-A | c.3058G>T | p.G1020* | Nonsense | 18/18 | - | 1 |
14-73945334-C-T | c.3058G>A | p.G1020R | Missense | 18/18 | - | 1 |
14-73945338-G-A | c.3054C>T | p.P1018= | Synonymous | 18/18 | - | 1 |
14-73945339-G-T | c.3053C>A | p.P1018H | Missense | 18/18 | - | 1 |
14-73945340-G-A | c.3052C>T | p.P1018S | Missense | 18/18 | - | 5 |
14-73945342-G-A | c.3050C>T | p.S1017F | Missense | 18/18 | - | 1 |
14-73945354-G-T | c.3038C>A | p.P1013H | Missense | 18/18 | - | 2 |
14-73945355-G-A | c.3037C>T | p.P1013S | Missense | 18/18 | - | 1 |
14-73945362-A-G | c.3030T>C | p.F1010= | Synonymous | 18/18 | - | 1 |
14-73945357-GA-G | c.3034del | p.S1012Lfs*? | Frameshift | 18/18 | - | 4 |
14-73945364-A-C | c.3028T>G | p.F1010V | Missense | 18/18 | - | 1 |
14-73945369-C-A | c.3023G>T | p.R1008I | Missense | 18/18 | - | 3 |
14-73945369-C-T | c.3023G>A | p.R1008K | Missense | 18/18 | - | 1 |
14-73945370-T-TA | c.3021_3022insT | p.R1008* | Nonsense | 18/18 | - | 1 |
14-73945371-C-A | c.3021G>T | p.E1007D | Missense | 18/18 | - | 1 |
14-73945371-C-G | c.3021G>C | p.E1007D | Missense | 18/18 | - | 1 |
14-73945373-C-A | c.3019G>T | p.E1007* | Nonsense | 18/18 | - | 1 |
14-73945373-C-G | c.3019G>C | p.E1007Q | Missense | 18/18 | - | 2 |
14-73945373-C-T | c.3019G>A | p.E1007K | Missense | 18/18 | - | 1 |
14-73945377-G-T | c.3015C>A | p.F1005L | Missense | 18/18 | - | 1 |
14-73945385-C-A | c.3007G>T | p.G1003C | Missense | 18/18 | - | 1 |
14-73945385-C-T | c.3007G>A | p.G1003S | Missense | 18/18 | - | 5 |
14-73945388-G-A | c.3004C>T | p.L1002= | Synonymous | 18/18 | - | 2 |
14-73945406-C-A | c.2986G>T | p.D996Y | Missense | 18/18 | - | 1 |
14-73945407-G-A | c.2985C>T | p.S995= | Synonymous | 18/18 | - | 1 |
14-73945419-T-C | c.2973A>G | p.G991= | Synonymous | 18/18 | - | 1 |
14-73945420-C-G | c.2972G>C | p.G991A | Missense | 18/18 | - | 2 |
14-73945420-C-T | c.2972G>A | p.G991E | Missense | 18/18 | - | 2 |
14-73945427-C-T | c.2965G>A | p.A989T | Missense | 18/18 | - | 2 |
14-73945437-C-A | c.2955G>T | p.E985D | Missense | 18/18 | - | 6 |
14-73945437-C-G | c.2955G>C | p.E985D | Missense | 18/18 | - | 4 |
14-73945439-C-T | c.2953G>A | p.E985K | Missense | 18/18 | - | 1 |
14-73945442-G-A | c.2950C>T | p.P984S | Missense | 18/18 | - | 1 |
14-73945442-G-C | c.2950C>G | p.P984A | Missense | 18/18 | - | 1 |
14-73945446-GG-CA | c.2945_2946delinsTG | p.T982M | Missense | 18/18 | - | 1 |
14-73945447-G-A | c.2945C>T | p.T982I | Missense | 18/18 | - | 2 |
14-73945448-T-G | c.2944A>C | p.T982P | Missense | 18/18 | - | 4 |
14-73945450-C-A | c.2942G>T | p.R981L | Missense | 18/18 | - | 1 |
14-73945450-C-T | c.2942G>A | p.R981H | Missense | 18/18 | - | 1 |
14-73945451-G-A | c.2941C>T | p.R981C | Missense | 18/18 | - | 2 |
14-73945454-G-C | c.2938C>G | p.L980V | Missense | 18/18 | - | 1 |
14-73945454-G-T | c.2938C>A | p.L980I | Missense | 18/18 | - | 1 |
14-73945456-T-A | c.2936A>T | p.D979V | Missense | 18/18 | - | 1 |
14-73945456-T-C | c.2936A>G | p.D979G | Missense | 18/18 | - | 3 |
14-73945457-C-T | c.2935G>A | p.D979N | Missense | 18/18 | - | 1 |
14-73945467-T-A | c.2925A>T | p.S975= | Synonymous | 18/18 | - | 1 |
14-73945467-T-C | c.2925A>G | p.S975= | Synonymous | 18/18 | - | 3 |
14-73945467-T-G | c.2925A>C | p.S975= | Synonymous | 18/18 | - | 1 |
14-73945471-G-A | c.2921C>T | p.S974L | Missense | 18/18 | - | 1 |
14-73945474-C-A | c.2918G>T | p.R973L | Missense | 18/18 | - | 1 |
14-73945474-C-T | c.2918G>A | p.R973H | Missense | 18/18 | - | 1 |
14-73945480-T-C | c.2912A>G | p.K971R | Missense | 18/18 | - | 1 |
14-73945483-C-T | c.2909G>A | p.S970N | Missense | 18/18 | - | 3 |
14-73945486-C-T | c.2906G>A | p.R969Q | Missense | 18/18 | - | 1 |
14-73945487-G-A | c.2905C>T | p.R969* | Nonsense | 18/18 | - | 1 |
14-73945487-G-C | c.2905C>G | p.R969G | Missense | 18/18 | - | 1 |
14-73945495-A-C | c.2897T>G | p.L966R | Missense | 18/18 | - | 1 |
14-73945496-G-C | c.2896C>G | p.L966V | Missense | 18/18 | - | 2 |
14-73945496-G-T | c.2896C>A | p.L966I | Missense | 18/18 | - | 1 |
14-73945511-T-C | c.2881A>G | p.S961G | Missense | 18/18 | - | 1 |
14-73945518-C-T | c.2874G>A | p.W958* | Nonsense | 18/18 | - | 2 |
14-73945519-C-T | c.2873G>A | p.W958* | Nonsense | 18/18 | - | 2 |
14-73945522-G-A | c.2870C>T | p.P957L | Missense | 18/18 | - | 1 |
14-73945523-G-A | c.2869C>T | p.P957S | Missense | 18/18 | - | 4 |
14-73945524-A-C | c.2868T>G | p.N956K | Missense | 18/18 | - | 3 |
14-73945531-G-A | c.2861C>T | p.A954V | Missense | 18/18 | - | 1 |
14-73945532-C-A | c.2860G>T | p.A954S | Missense | 18/18 | - | 1 |
14-73945532-C-T | c.2860G>A | p.A954T | Missense | 18/18 | - | 4 |
14-73945534-C-T | c.2858G>A | p.R953H | Missense | 18/18 | - | 1 |
14-73945538-G-A | c.2854C>T | p.P952S | Missense | 18/18 | - | 1 |
14-73945542-C-A | c.2850G>T | p.V950= | Synonymous | 18/18 | - | 1 |
14-73945542-C-G | c.2850G>C | p.V950= | Synonymous | 18/18 | - | 1 |
14-73945542-C-T | c.2850G>A | p.V950= | Synonymous | 18/18 | - | 1 |
14-73945544-C-A | c.2848G>T | p.V950L | Missense | 18/18 | - | 1 |
14-73945587-G-A | c.2845-40C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73945587-G-C | c.2845-40C>G | - | IntronicSNV | - | 17/17 | 1 |
14-73948362-A-C | c.2845-2815T>G | - | IntronicSNV | - | 17/17 | 1 |
14-73950346-T-G | c.2845-4799A>C | - | IntronicSNV | - | 17/17 | 1 |
14-73954464-C-A | c.2844+5306G>T | - | IntronicSNV | - | 17/17 | 1 |
14-73957022-T-A | c.2844+2748A>T | - | IntronicSNV | - | 17/17 | 1 |
14-73957022-T-C | c.2844+2748A>G | - | IntronicSNV | - | 17/17 | 1 |
14-73957662-C-T | c.2844+2108G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73957668-C-G | c.2844+2102G>C | - | IntronicSNV | - | 17/17 | 2 |
14-73957682-C-G | c.2844+2088G>C | - | IntronicSNV | - | 17/17 | 10 |
14-73957682-C-T | c.2844+2088G>A | - | IntronicSNV | - | 17/17 | 9 |
14-73957691-G-A | c.2844+2079C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73957691-G-C | c.2844+2079C>G | - | IntronicSNV | - | 17/17 | 1 |
14-73957772-A-G | c.2844+1998T>C | - | IntronicSNV | - | 17/17 | 25 |
14-73957936-G-A | c.2844+1834C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73957981-G-C | c.2844+1789C>G | - | IntronicSNV | - | 17/17 | 1 |
14-73957981-G-GC | c.2844+1788dup | - | IntronicInsertion | - | 17/17 | 17 |
14-73957981-G-GCC | c.2844+1788_2844+1789insGG | - | IntronicInsertion | - | 17/17 | 14 |
14-73957982-C-CT | c.2844+1787_2844+1788insA | - | IntronicInsertion | - | 17/17 | 2 |
14-73958026-C-T | c.2844+1744G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73958101-C-T | c.2844+1669G>A | - | IntronicSNV | - | 17/17 | 8 |
14-73958375-T-C | c.2844+1395A>G | - | IntronicSNV | - | 17/17 | 22 |
14-73958396-C-T | c.2844+1374G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73958437-A-G | c.2844+1333T>C | - | IntronicSNV | - | 17/17 | 1 |
14-73958438-G-C | c.2844+1332C>G | - | IntronicSNV | - | 17/17 | 1 |
14-73958518-G-A | c.2844+1252C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73958538-G-A | c.2844+1232C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73958558-C-T | c.2844+1212G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73958574-G-A | c.2844+1196C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73958722-C-G | c.2844+1048G>C | - | IntronicSNV | - | 17/17 | 1 |
14-73958733-G-GC | c.2844+1036dup | - | IntronicInsertion | - | 17/17 | 1 |
14-73958742-T-A | c.2844+1028A>T | - | IntronicSNV | - | 17/17 | 1 |
14-73958795-T-G | c.2844+975A>C | - | IntronicSNV | - | 17/17 | 1 |
14-73958812-T-A | c.2844+958A>T | - | IntronicSNV | - | 17/17 | 20 |
14-73958812-T-C | c.2844+958A>G | - | IntronicSNV | - | 17/17 | 21 |
14-73958862-G-A | c.2844+908C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73958922-C-T | c.2844+848G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73958987-G-C | c.2844+783C>G | - | IntronicSNV | - | 17/17 | 1 |
14-73958987-G-T | c.2844+783C>A | - | IntronicSNV | - | 17/17 | 1 |
14-73959116-G-A | c.2844+654C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959153-CATGGAGAA-C | c.2844+610_2844+617del | - | IntronicDeletion | - | 17/17 | 1 |
14-73959215-C-T | c.2844+555G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73959272-G-A | c.2844+498C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959308-C-G | c.2844+462G>C | - | IntronicSNV | - | 17/17 | 3 |
14-73959310-G-A | c.2844+460C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959406-G-A | c.2844+364C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959452-T-A | c.2844+318A>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959596-G-A | c.2844+174C>T | - | IntronicSNV | - | 17/17 | 1 |
14-73959596-G-T | c.2844+174C>A | - | IntronicSNV | - | 17/17 | 1 |
14-73959639-C-CT | c.2844+130dup | - | IntronicInsertion | - | 17/17 | 1 |
14-73959703-C-CCT | c.2844+66_2844+67insAG | - | IntronicInsertion | - | 17/17 | 6 |
14-73959703-C-T | c.2844+67G>A | - | IntronicSNV | - | 17/17 | 1 |
14-73959707-T-TC | c.2844+62_2844+63insG | - | IntronicInsertion | - | 17/17 | 2 |
14-73959718-T-TTC | c.2844+50_2844+51dup | - | IntronicInsertion | - | 17/17 | 2 |
14-73959782-T-C | c.2832A>G | p.E944= | Synonymous | 17/18 | - | 1 |
14-73959790-C-T | c.2824G>A | p.D942N | Missense | 17/18 | - | 1 |
14-73959796-C-G | c.2818G>C | p.V940L | Missense | 17/18 | - | 1 |
14-73959799-C-T | c.2815G>A | p.E939K | Missense | 17/18 | - | 2 |
14-73959804-G-C | c.2810C>G | p.P937R | Missense | 17/18 | - | 3 |
14-73959805-G-T | c.2809C>A | p.P937T | Missense | 17/18 | - | 1 |
14-73959806-TCT-ACA | c.2806_2808delinsTGT | p.R936C | Missense | 17/18 | - | 1 |
14-73959806-TCT-ATG | c.2806_2808delinsCAT | p.R936H | Missense | 17/18 | - | 1 |
14-73959808-T-C | c.2806A>G | p.R936G | Missense | 17/18 | - | 1 |
14-73959810-C-G | c.2804G>C | p.R935T | Missense | 17/18 | - | 1 |
14-73959811-T-C | c.2803A>G | p.R935G | Missense | 17/18 | - | 2 |
14-73959811-T-G | c.2803A>C | p.R935= | Synonymous | 17/18 | - | 2 |
14-73959812-A-C | c.2802T>G | p.P934= | Synonymous | 17/18 | - | 1 |
14-73959812-A-G | c.2802T>C | p.P934= | Synonymous | 17/18 | - | 1 |
14-73959812-A-T | c.2802T>A | p.P934= | Synonymous | 17/18 | - | 1 |
14-73959826-C-T | c.2788G>A | p.E930K | Missense | 17/18 | - | 1 |
14-73960870-C-A | c.2786-1042G>T | - | IntronicSNV | - | 16/17 | 1 |
14-73960870-C-G | c.2786-1042G>C | - | IntronicSNV | - | 16/17 | 1 |
14-73961766-A-C | c.2785+166T>G | - | IntronicSNV | - | 16/17 | 1 |
14-73961766-A-G | c.2785+166T>C | - | IntronicSNV | - | 16/17 | 1 |
14-73961821-T-C | c.2785+111A>G | - | IntronicSNV | - | 16/17 | 4 |
14-73961841-T-C | c.2785+91A>G | - | IntronicSNV | - | 16/17 | 4 |
14-73961935-TG-T | c.2782del | p.Q928Rfs*19 | Frameshift | 16/18 | - | 1 |
14-73961944-C-A | c.2773G>T | p.E925* | Nonsense | 16/18 | - | 1 |
14-73961952-A-G | c.2765T>C | p.L922S | Missense | 16/18 | - | 2 |
14-73961957-C-G | c.2760G>C | p.Q920H | Missense | 16/18 | - | 1 |
14-73961982-C-T | c.2735G>A | p.G912E | Missense | 16/18 | - | 10 |
14-73961989-G-A | c.2728C>T | p.P910S | Missense | 16/18 | - | 2 |
14-73961993-C-T | c.2724G>A | p.L908= | Synonymous | 16/18 | - | 1 |
14-73961995-A-G | c.2722T>C | p.L908= | Synonymous | 16/18 | - | 1 |
14-73962004-G-A | c.2713C>T | p.R905C | Missense | 16/18 | - | 1 |
14-73962013-C-T | c.2704G>A | p.E902K | Missense | 16/18 | - | 1 |
14-73962022-C-G | c.2695G>C | p.V899L | Missense | 16/18 | - | 1 |
14-73962024-T-C | c.2693A>G | p.K898R | Missense | 16/18 | - | 1 |
14-73962027-C-T | c.2690G>A | p.G897E | Missense | 16/18 | - | 2 |
14-73962028-C-T | c.2689G>A | p.G897R | Missense | 16/18 | - | 1 |
14-73962036-A-G | c.2681T>C | p.M894T | Missense | 16/18 | - | 2 |
14-73962038-C-T | c.2679G>A | p.E893= | Synonymous | 16/18 | - | 1 |
14-73962055-T-G | c.2662A>C | p.K888Q | Missense | 16/18 | - | 1 |
14-73962066-A-G | c.2651T>C | p.L884S | Missense | 16/18 | - | 2 |
14-73962070-C-T | c.2647G>A | p.D883N | Missense | 16/18 | - | 2 |
14-73962071-C-T | c.2646G>A | p.K882= | Synonymous | 16/18 | - | 1 |
14-73962077-G-A | c.2640C>T | p.S880= | Synonymous | 16/18 | - | 1 |
14-73962089-A-C | c.2628T>G | p.I876M | Missense | 16/18 | - | 2 |
14-73963305-C-T | c.2625G>A | p.R875= | Synonymous | 15/18 | - | 1 |
14-73963307-T-A | c.2623A>T | p.R875W | Missense | 15/18 | - | 1 |
14-73963311-C-T | c.2619G>A | p.K873= | Synonymous | 15/18 | - | 1 |
14-73963313-T-C | c.2617A>G | p.K873E | Missense | 15/18 | - | 1 |
14-73963326-C-T | c.2604G>A | p.M868I | Missense | 15/18 | - | 1 |
14-73963328-T-C | c.2602A>G | p.M868V | Missense | 15/18 | - | 1 |
14-73963331-C-A | c.2599G>T | p.E867* | Nonsense | 15/18 | - | 1 |
14-73963331-C-T | c.2599G>A | p.E867K | Missense | 15/18 | - | 1 |
14-73963339-C-T | c.2591G>A | p.G864E | Missense | 15/18 | - | 3 |
14-73963340-C-T | c.2590G>A | p.G864R | Missense | 15/18 | - | 1 |
14-73963343-C-T | c.2587G>A | p.E863K | Missense | 15/18 | - | 1 |
14-73963348-C-T | c.2582G>A | p.G861E | Missense | 15/18 | - | 1 |
14-73963349-C-T | c.2581G>A | p.G861R | Missense | 15/18 | - | 1 |
14-73963355-T-C | c.2575A>G | p.N859D | Missense | 15/18 | - | 1 |
14-73963357-A-T | c.2573T>A | p.L858H | Missense | 15/18 | - | 1 |
14-73963358-G-T | c.2572C>A | p.L858I | Missense | 15/18 | - | 1 |
14-73963365-C-A | c.2565G>T | p.M855I | Missense | 15/18 | - | 1 |
14-73963365-C-G | c.2565G>C | p.M855I | Missense | 15/18 | - | 1 |
14-73963365-C-T | c.2565G>A | p.M855I | Missense | 15/18 | - | 1 |
14-73963369-G-A | c.2561C>T | p.T854I | Missense | 15/18 | - | 4 |
14-73963374-G-C | c.2556C>G | p.Y852* | Nonsense | 15/18 | - | 1 |
14-73963374-G-T | c.2556C>A | p.Y852* | Nonsense | 15/18 | - | 1 |
14-73963376-A-C | c.2554T>G | p.Y852D | Missense | 15/18 | - | 1 |
14-73963376-A-T | c.2554T>A | p.Y852N | Missense | 15/18 | - | 1 |
14-73963383-T-C | c.2547A>G | p.K849= | Synonymous | 15/18 | - | 18 |
14-73964800-C-A | c.2546+59G>T | - | IntronicSNV | - | 14/17 | 1 |
14-73964869-C-T | c.2536G>A | p.A846T | Missense | 14/18 | - | 1 |
14-73964872-C-T | c.2533G>A | p.D845N | Missense | 14/18 | - | 3 |
14-73964877-T-G | c.2528A>C | p.N843T | Missense | 14/18 | - | 1 |
14-73964879-C-A | c.2526G>T | p.E842D | Missense | 14/18 | - | 1 |
14-73964882-C-A | c.2523G>T | p.L841= | Synonymous | 14/18 | - | 1 |
14-73964882-C-G | c.2523G>C | p.L841= | Synonymous | 14/18 | - | 1 |
14-73964882-C-T | c.2523G>A | p.L841= | Synonymous | 14/18 | - | 1 |
14-73964884-G-A | c.2521C>T | p.L841= | Synonymous | 14/18 | - | 1 |
14-73964888-C-T | c.2517G>A | p.L839= | Synonymous | 14/18 | - | 1 |
14-73964891-C-T | c.2514G>A | p.V838= | Synonymous | 14/18 | - | 1 |
14-73964894-G-A | c.2511C>T | p.D837= | Synonymous | 14/18 | - | 1 |
14-73964901-A-C | c.2504T>G | p.F835C | Missense | 14/18 | - | 1 |
14-73964906-G-C | c.2499C>G | p.D833E | Missense | 14/18 | - | 1 |
14-73964906-G-T | c.2499C>A | p.D833E | Missense | 14/18 | - | 1 |
14-73964914-C-T | c.2491G>A | p.V831I | Missense | 14/18 | - | 1 |
14-73964916-C-T | c.2489G>A | p.R830Q | Missense | 14/18 | - | 2 |
14-73964917-G-A | c.2488C>T | p.R830W | Missense | 14/18 | - | 3 |
14-73964917-G-T | c.2488C>A | p.R830= | Synonymous | 14/18 | - | 1 |
14-73964919-T-C | c.2486A>G | p.D829G | Missense | 14/18 | - | 1 |
14-73964920-C-T | c.2485G>A | p.D829N | Missense | 14/18 | - | 1 |
14-73964923-C-G | c.2482G>C | p.G828R | Missense | 14/18 | - | 1 |
14-73964923-C-T | c.2482G>A | p.G828R | Missense | 14/18 | - | 1 |
14-73964924-T-G | c.2481A>C | p.Q827H | Missense | 14/18 | - | 1 |
14-73964925-T-A | c.2480A>T | p.Q827L | Missense | 14/18 | - | 1 |
14-73964933-C-A | c.2472G>T | p.L824= | Synonymous | 14/18 | - | 1 |
14-73964937-G-A | c.2468C>T | p.A823V | Missense | 14/18 | - | 1 |
14-73964942-G-A | c.2463C>T | p.I821= | Synonymous | 14/18 | - | 1 |
14-73964942-G-C | c.2463C>G | p.I821M | Missense | 14/18 | - | 1 |
14-73964942-G-T | c.2463C>A | p.I821= | Synonymous | 14/18 | - | 3 |
14-73964949-C-T | c.2456G>A | p.R819H | Missense | 14/18 | - | 1 |
14-73964950-G-C | c.2455C>G | p.R819G | Missense | 14/18 | - | 1 |
14-73964959-C-A | c.2446G>T | p.E816* | Nonsense | 14/18 | - | 1 |
14-73964959-C-G | c.2446G>C | p.E816Q | Missense | 14/18 | - | 1 |
14-73964963-C-T | c.2442G>A | p.R814= | Synonymous | 14/18 | - | 1 |
14-73964964-C-T | c.2441G>A | p.R814Q | Missense | 14/18 | - | 4 |
14-73964968-C-G | c.2437G>C | p.V813L | Missense | 14/18 | - | 2 |
14-73964968-C-T | c.2437G>A | p.V813I | Missense | 14/18 | - | 1 |
14-73964980-C-G | c.2425G>C | p.E809Q | Missense | 14/18 | - | 1 |
14-73964983-C-T | c.2422G>A | p.E808K | Missense | 14/18 | - | 4 |
14-73964995-C-A | c.2410G>T | p.A804S | Missense | 14/18 | - | 1 |
14-73965003-A-G | c.2402T>C | p.L801P | Missense | 14/18 | - | 1 |
14-73965012-G-A | c.2393C>T | p.T798M | Missense | 14/18 | - | 3 |
14-73965031-G-A | c.2374C>T | p.Q792* | Nonsense | 14/18 | - | 3 |
14-73965036-A-G | c.2369T>C | p.I790T | Missense | 14/18 | - | 1 |
14-73965042-C-G | c.2363G>C | p.G788A | Missense | 14/18 | - | 1 |
14-73965043-C-A | c.2362G>T | p.G788* | Nonsense | 14/18 | - | 3 |
14-73965574-T-C | c.2356+201A>G | - | IntronicSNV | - | 13/17 | 1 |
14-73965775-C-A | c.2356G>T | p.A786S | Missense | 13/18 | - | 1 |
14-73965778-G-A | c.2353C>T | p.R785* | Nonsense | 13/18 | - | 3 |
14-73965793-T-A | c.2338A>T | p.K780* | Nonsense | 13/18 | - | 1 |
14-73965794-G-A | c.2337C>T | p.I779= | Synonymous | 13/18 | - | 1 |
14-73965794-G-T | c.2337C>A | p.I779= | Synonymous | 13/18 | - | 1 |
14-73965796-T-A | c.2335A>T | p.I779F | Missense | 13/18 | - | 1 |
14-73965799-T-C | c.2332A>G | p.K778E | Missense | 13/18 | - | 2 |
14-73965800-C-T | c.2331G>A | p.W777* | Nonsense | 13/18 | - | 2 |
14-73965801-C-T | c.2330G>A | p.W777* | Nonsense | 13/18 | - | 5 |
14-73965807-G-T | c.2324C>A | p.P775H | Missense | 13/18 | - | 1 |
14-73965813-C-T | c.2318G>A | p.R773K | Missense | 13/18 | - | 3 |
14-73965831-A-G | c.2300T>C | p.L767P | Missense | 13/18 | - | 1 |
14-73965834-C-T | c.2297G>A | p.C766Y | Missense | 13/18 | - | 1 |
14-73965844-C-T | c.2287G>A | p.V763M | Missense | 13/18 | - | 1 |
14-73965876-G-A | c.2287-32C>T | - | IntronicSNV | - | 12/17 | 1 |
14-73967254-C-T | c.2286G>A | p.M762I | Missense | 12/18 | - | 1 |
14-73967257-C-A | c.2283G>T | p.K761N | Missense | 12/18 | - | 2 |
14-73967257-C-G | c.2283G>C | p.K761N | Missense | 12/18 | - | 2 |
14-73967258-T-C | c.2282A>G | p.K761R | Missense | 12/18 | - | 1 |
14-73967259-T-G | c.2281A>C | p.K761Q | Missense | 12/18 | - | 1 |
14-73967262-C-T | c.2278G>A | p.D760N | Missense | 12/18 | - | 2 |
14-73967264-C-T | c.2276G>A | p.R759H | Missense | 12/18 | - | 2 |
14-73967265-G-A | c.2275C>T | p.R759C | Missense | 12/18 | - | 2 |
14-73967267-A-T | c.2273T>A | p.I758N | Missense | 12/18 | - | 1 |
14-73967273-A-C | c.2267T>G | p.L756R | Missense | 12/18 | - | 1 |
14-73967277-C-A | c.2263G>T | p.A755S | Missense | 12/18 | - | 1 |
14-73967300-C-A | c.2240G>T | p.R747L | Missense | 12/18 | - | 1 |
14-73967301-G-A | c.2239C>T | p.R747W | Missense | 12/18 | - | 1 |
14-73967304-G-A | c.2236C>T | p.R746W | Missense | 12/18 | - | 1 |
14-73967306-A-G | c.2234T>C | p.V745A | Missense | 12/18 | - | 1 |
14-73967313-T-G | c.2227A>C | p.T743P | Missense | 12/18 | - | 2 |
14-73967324-GA-CC | c.2215_2216delinsGG | p.S739G | Missense | 12/18 | - | 1 |
14-73967328-A-C | c.2212T>G | p.F738V | Missense | 12/18 | - | 1 |
14-73967331-A-T | c.2209T>A | p.C737S | Missense | 12/18 | - | 1 |
14-73967341-G-A | c.2199C>T | p.S733= | Synonymous | 12/18 | - | 1 |
14-73967349-G-A | c.2191C>T | p.L731F | Missense | 12/18 | - | 1 |
14-73967349-G-T | c.2191C>A | p.L731I | Missense | 12/18 | - | 1 |
14-73967358-C-T | c.2182G>A | p.A728T | Missense | 12/18 | - | 2 |
14-73967360-G-T | c.2180C>A | p.T727N | Missense | 12/18 | - | 1 |
14-73967373-G-T | c.2167C>A | p.L723I | Missense | 12/18 | - | 1 |
14-73967376-C-G | c.2164G>C | p.E722Q | Missense | 12/18 | - | 1 |
14-73967383-C-G | c.2157G>C | p.L719= | Synonymous | 12/18 | - | 1 |
14-73967389-G-A | c.2151C>T | p.L717= | Synonymous | 12/18 | - | 1 |
14-73967389-G-C | c.2151C>G | p.L717= | Synonymous | 12/18 | - | 1 |
14-73967389-G-T | c.2151C>A | p.L717= | Synonymous | 12/18 | - | 1 |
14-73967394-C-T | c.2146G>A | p.A716T | Missense | 12/18 | - | 2 |
14-73967397-C-T | c.2143G>A | p.E715K | Missense | 12/18 | - | 1 |
14-73967398-CAC-GAT | c.2140_2142delinsATC | p.V714I | Missense | 12/18 | - | 1 |
14-73967402-C-A | c.2138G>T | p.R713L | Missense | 12/18 | - | 1 |
14-73967402-C-T | c.2138G>A | p.R713H | Missense | 12/18 | - | 1 |
14-73967403-G-A | c.2137C>T | p.R713C | Missense | 12/18 | - | 1 |
14-73967408-T-G | c.2132A>C | p.Q711P | Missense | 12/18 | - | 1 |
14-73967417-C-T | c.2123G>A | p.G708E | Missense | 12/18 | - | 3 |
14-73967423-C-G | c.2117G>C | p.G706A | Missense | 12/18 | - | 1 |
14-73967424-C-G | c.2116G>C | p.G706R | Missense | 12/18 | - | 1 |
14-73967430-T-C | c.2110A>G | p.K704E | Missense | 12/18 | - | 1 |
14-73967431-G-T | c.2109C>A | p.V703= | Synonymous | 12/18 | - | 1 |
14-73967653-T-A | c.2106-219A>T | - | IntronicSNV | - | 11/17 | 1 |
14-73968275-T-C | c.2106-841A>G | - | IntronicSNV | - | 11/17 | 1 |
14-73969259-CT-C | c.2105+339del | - | IntronicDeletion | - | 11/17 | 1 |
14-73969598-C-G | c.2105+1G>C | - | IntronicSNV | - | 11/17 | 1 |
14-73969607-G-A | c.2097C>T | p.D699= | Synonymous | 11/18 | - | 1 |
14-73969609-C-T | c.2095G>A | p.D699N | Missense | 11/18 | - | 1 |
14-73969610-G-A | c.2094C>T | p.H698= | Synonymous | 11/18 | - | 10 |
14-73969615-C-T | c.2089G>A | p.V697M | Missense | 11/18 | - | 1 |
14-73969618-C-A | c.2086G>T | p.E696* | Nonsense | 11/18 | - | 1 |
14-73969624-C-T | c.2080G>A | p.G694R | Missense | 11/18 | - | 1 |
14-73969631-C-A | c.2073G>T | p.M691I | Missense | 11/18 | - | 2 |
14-73969631-C-G | c.2073G>C | p.M691I | Missense | 11/18 | - | 3 |
14-73969631-C-T | c.2073G>A | p.M691I | Missense | 11/18 | - | 2 |
14-73969636-G-A | c.2068C>T | p.Q690* | Nonsense | 11/18 | - | 1 |
14-73969641-A-T | c.2063T>A | p.L688H | Missense | 11/18 | - | 1 |
14-73969642-G-A | c.2062C>T | p.L688F | Missense | 11/18 | - | 1 |
14-73969644-G-A | c.2060C>T | p.A687V | Missense | 11/18 | - | 4 |
14-73969653-G-C | c.2051C>G | p.A684G | Missense | 11/18 | - | 1 |
14-73969657-C-T | c.2047G>A | p.A683T | Missense | 11/18 | - | 1 |
14-73969661-CCT-ATG | c.2041_2043delinsCAT | p.R681H | Missense | 11/18 | - | 1 |
14-73969667-T-C | c.2037A>G | p.E679= | Synonymous | 11/18 | - | 1 |
14-73969670-C-G | c.2034G>C | p.K678N | Missense | 11/18 | - | 1 |
14-73969672-T-G | c.2032A>C | p.K678Q | Missense | 11/18 | - | 1 |
14-73969677-C-T | c.2027G>A | p.W676* | Nonsense | 11/18 | - | 1 |
14-73969681-C-T | c.2023G>A | p.D675N | Missense | 11/18 | - | 1 |
14-73969688-C-G | c.2016G>C | p.M672I | Missense | 11/18 | - | 1 |
14-73969691-C-A | c.2013G>T | p.L671= | Synonymous | 11/18 | - | 1 |
14-73969691-C-G | c.2013G>C | p.L671= | Synonymous | 11/18 | - | 1 |
14-73969691-C-T | c.2013G>A | p.L671= | Synonymous | 11/18 | - | 1 |
14-73969693-G-A | c.2011C>T | p.L671= | Synonymous | 11/18 | - | 1 |
14-73969693-G-C | c.2011C>G | p.L671V | Missense | 11/18 | - | 1 |
14-73969703-C-A | c.2001G>T | p.K667N | Missense | 11/18 | - | 2 |
14-73969703-C-G | c.2001G>C | p.K667N | Missense | 11/18 | - | 1 |
14-73969708-G-A | c.1996C>T | p.H666Y | Missense | 11/18 | - | 1 |
14-73972535-T-A | c.1986+636A>T | - | IntronicSNV | - | 10/17 | 1 |
14-73972535-T-C | c.1986+636A>G | - | IntronicSNV | - | 10/17 | 1 |
14-73973171-C-A | c.1986G>T | p.L662F | Missense | 10/18 | - | 1 |
14-73973171-C-G | c.1986G>C | p.L662F | Missense | 10/18 | - | 1 |
14-73973171-C-T | c.1986G>A | p.L662= | Synonymous | 10/18 | - | 1 |
14-73973173-A-C | c.1984T>G | p.L662V | Missense | 10/18 | - | 1 |
14-73973178-A-AGCTGCT | c.1978_1979insAGCAGC | p.V660delinsEQL | MultiAAMissense | 10/18 | - | 1 |
14-73973178-A-G | c.1979T>C | p.V660A | Missense | 10/18 | - | 2 |
14-73973180-A-G | c.1977T>C | p.N659= | Synonymous | 10/18 | - | 2 |
14-73973185-C-T | c.1972G>A | p.G658R | Missense | 10/18 | - | 1 |
14-73973186-A-T | c.1971T>A | p.S657R | Missense | 10/18 | - | 1 |
14-73973192-C-G | c.1965G>C | p.R655= | Synonymous | 10/18 | - | 1 |
14-73973192-C-T | c.1965G>A | p.R655= | Synonymous | 10/18 | - | 1 |
14-73973212-C-T | c.1945G>A | p.A649T | Missense | 10/18 | - | 1 |
14-73973217-A-T | c.1940T>A | p.I647N | Missense | 10/18 | - | 1 |
14-73973220-C-T | c.1937G>A | p.R646Q | Missense | 10/18 | - | 1 |
14-73973221-G-A | c.1936C>T | p.R646W | Missense | 10/18 | - | 1 |
14-73973225-C-T | c.1932G>A | p.K644= | Synonymous | 10/18 | - | 1 |
14-73973230-A-C | c.1927T>G | p.W643G | Missense | 10/18 | - | 2 |
14-73973233-G-T | c.1924C>A | p.Q642K | Missense | 10/18 | - | 2 |
14-73973233-TGAC-T | c.1922_1924del | p.C641_Q642delins* | MultiAAMissense | 10/18 | - | 1 |
14-73973234-A-T | c.1923T>A | p.C641* | Nonsense | 10/18 | - | 1 |
14-73973253-G-A | c.1904C>T | p.A635V | Missense | 10/18 | - | 1 |
14-73973254-C-T | c.1903G>A | p.A635T | Missense | 10/18 | - | 3 |
14-73973256-A-G | c.1901T>C | p.L634P | Missense | 10/18 | - | 1 |
14-73973256-A-T | c.1901T>A | p.L634H | Missense | 10/18 | - | 2 |
14-73973257-G-C | c.1900C>G | p.L634V | Missense | 10/18 | - | 1 |
14-73973263-T-C | c.1894A>G | p.T632A | Missense | 10/18 | - | 1 |
14-73974531-T-C | c.1881+307A>G | - | IntronicSNV | - | 9/17 | 1 |
14-73974658-C-T | c.1881+180G>A | - | IntronicSNV | - | 9/17 | 1 |
14-73974809-CTG-C | c.1881+27_1881+28del | - | IntronicDeletion | - | 9/17 | 1 |
14-73974844-C-A | c.1875G>T | p.E625D | Missense | 9/18 | - | 1 |
14-73974850-C-T | c.1869G>A | p.L623= | Synonymous | 9/18 | - | 1 |
14-73974852-G-A | c.1867C>T | p.L623= | Synonymous | 9/18 | - | 1 |
14-73974852-G-C | c.1867C>G | p.L623V | Missense | 9/18 | - | 2 |
14-73974855-A-T | c.1864T>A | p.Y622N | Missense | 9/18 | - | 1 |
14-73974859-C-A | c.1860G>T | p.L620= | Synonymous | 9/18 | - | 1 |
14-73974859-C-G | c.1860G>C | p.L620= | Synonymous | 9/18 | - | 1 |
14-73974859-C-T | c.1860G>A | p.L620= | Synonymous | 9/18 | - | 1 |
14-73974861-G-A | c.1858C>T | p.L620= | Synonymous | 9/18 | - | 1 |
14-73974866-A-C | c.1853T>G | p.I618S | Missense | 9/18 | - | 1 |
14-73974866-A-T | c.1853T>A | p.I618N | Missense | 9/18 | - | 2 |
14-73974867-T-C | c.1852A>G | p.I618V | Missense | 9/18 | - | 1 |
14-73974873-A-G | c.1846T>C | p.S616P | Missense | 9/18 | - | 1 |
14-73974874-C-T | c.1845G>A | p.Q615= | Synonymous | 9/18 | - | 1 |
14-73974875-T-C | c.1844A>G | p.Q615R | Missense | 9/18 | - | 1 |
14-73974876-G-T | c.1843C>A | p.Q615K | Missense | 9/18 | - | 1 |
14-73974879-C-T | c.1840G>A | p.E614K | Missense | 9/18 | - | 6 |
14-73974882-C-A | c.1837G>T | p.E613* | Nonsense | 9/18 | - | 1 |
14-73974882-C-T | c.1837G>A | p.E613K | Missense | 9/18 | - | 1 |
14-73974884-G-C | c.1835C>G | p.T612S | Missense | 9/18 | - | 1 |
14-73974888-C-T | c.1831G>A | p.D611N | Missense | 9/18 | - | 1 |
14-73974890-T-A | c.1829A>T | p.E610V | Missense | 9/18 | - | 1 |
14-73974895-C-G | c.1824G>C | p.K608N | Missense | 9/18 | - | 1 |
14-73974898-C-A | c.1821G>T | p.K607N | Missense | 9/18 | - | 1 |
14-73974898-C-G | c.1821G>C | p.K607N | Missense | 9/18 | - | 2 |
14-73974902-G-A | c.1817C>T | p.T606I | Missense | 9/18 | - | 1 |
14-73974913-G-T | c.1806C>A | p.H602Q | Missense | 9/18 | - | 1 |
14-73974920-A-G | c.1799T>C | p.I600T | Missense | 9/18 | - | 1 |
14-73974924-T-C | c.1795A>G | p.R599G | Missense | 9/18 | - | 1 |
14-73974925-C-T | c.1794G>A | p.K598= | Synonymous | 9/18 | - | 1 |
14-73974931-C-A | c.1788G>T | p.V596= | Synonymous | 9/18 | - | 1 |
14-73974931-C-G | c.1788G>C | p.V596= | Synonymous | 9/18 | - | 1 |
14-73974931-C-T | c.1788G>A | p.V596= | Synonymous | 9/18 | - | 1 |
14-73974935-G-A | c.1784C>T | p.P595L | Missense | 9/18 | - | 1 |
14-73974938-T-A | c.1781A>T | p.Y594F | Missense | 9/18 | - | 1 |
14-73974947-G-A | c.1772C>T | p.T591I | Missense | 9/18 | - | 1 |
14-73974950-C-A | c.1769G>T | p.G590V | Missense | 9/18 | - | 1 |
14-73974950-C-T | c.1769G>A | p.G590D | Missense | 9/18 | - | 3 |
14-73974951-C-T | c.1768G>A | p.G590S | Missense | 9/18 | - | 2 |
14-73974963-A-C | c.1756T>G | p.L586V | Missense | 9/18 | - | 1 |
14-73974966-A-G | c.1753T>C | p.C585R | Missense | 9/18 | - | 1 |
14-73974967-C-G | c.1752G>C | p.Q584H | Missense | 9/18 | - | 1 |
14-73974979-C-A | c.1740G>T | p.W580C | Missense | 9/18 | - | 1 |
14-73974980-C-G | c.1739G>C | p.W580S | Missense | 9/18 | - | 1 |
14-73975179-A-G | c.1721-181T>C | - | IntronicSNV | - | 8/17 | 1 |
14-73976017-C-T | c.1719G>A | p.K573= | Synonymous | 8/18 | - | 1 |
14-73976025-G-A | c.1711C>T | p.L571F | Missense | 8/18 | - | 2 |
14-73976028-C-T | c.1708G>A | p.A570T | Missense | 8/18 | - | 1 |
14-73976032-C-G | c.1704G>C | p.Q568H | Missense | 8/18 | - | 1 |
14-73976034-G-C | c.1702C>G | p.Q568E | Missense | 8/18 | - | 1 |
14-73976041-G-C | c.1695C>G | p.N565K | Missense | 8/18 | - | 1 |
14-73976041-G-T | c.1695C>A | p.N565K | Missense | 8/18 | - | 1 |
14-73976045-C-T | c.1691G>A | p.R564Q | Missense | 8/18 | - | 2 |
14-73976046-G-C | c.1690C>G | p.R564G | Missense | 8/18 | - | 1 |
14-73976047-G-A | c.1689C>T | p.A563= | Synonymous | 8/18 | - | 1 |
14-73976047-G-C | c.1689C>G | p.A563= | Synonymous | 8/18 | - | 1 |
14-73976047-G-T | c.1689C>A | p.A563= | Synonymous | 8/18 | - | 1 |
14-73976067-G-A | c.1669C>T | p.Q557* | Nonsense | 8/18 | - | 1 |
14-73976067-G-C | c.1669C>G | p.Q557E | Missense | 8/18 | - | 1 |
14-73976075-T-A | c.1661A>T | p.Y554F | Missense | 8/18 | - | 1 |
14-73976075-T-C | c.1661A>G | p.Y554C | Missense | 8/18 | - | 1 |
14-73976076-A-G | c.1660T>C | p.Y554H | Missense | 8/18 | - | 1 |
14-73976082-A-G | c.1654T>C | p.C552R | Missense | 8/18 | - | 1 |
14-73976088-C-A | c.1648G>T | p.A550S | Missense | 8/18 | - | 1 |
14-73976091-C-T | c.1645G>A | p.A549T | Missense | 8/18 | - | 4 |
14-73976094-C-A | c.1642G>T | p.A548S | Missense | 8/18 | - | 1 |
14-73976094-C-T | c.1642G>A | p.A548T | Missense | 8/18 | - | 1 |
14-73976100-G-A | c.1636C>T | p.R546W | Missense | 8/18 | - | 6 |
14-73976119-A-C | c.1617T>G | p.C539W | Missense | 8/18 | - | 1 |
14-73976122-A-C | c.1614T>G | p.L538= | Synonymous | 8/18 | - | 1 |
14-73976122-A-G | c.1614T>C | p.L538= | Synonymous | 8/18 | - | 1 |
14-73976122-A-T | c.1614T>A | p.L538= | Synonymous | 8/18 | - | 1 |
14-73976133-C-T | c.1603G>A | p.E535K | Missense | 8/18 | - | 1 |
14-73976137-G-A | c.1599C>T | p.A533= | Synonymous | 8/18 | - | 2 |
14-73976145-G-C | c.1591C>G | p.L531V | Missense | 8/18 | - | 1 |
14-73976147-A-G | c.1589T>C | p.L530P | Missense | 8/18 | - | 1 |
14-73976153-T-C | c.1583A>G | p.E528G | Missense | 8/18 | - | 1 |
14-73976163-C-A | c.1573G>T | p.D525Y | Missense | 8/18 | - | 1 |
14-73976163-C-T | c.1573G>A | p.D525N | Missense | 8/18 | - | 3 |
14-73976164-C-T | c.1572G>A | p.Q524= | Synonymous | 8/18 | - | 1 |
14-73976170-G-GGA | c.1565_1566insTC | p.I523Pfs*13 | Frameshift | 8/18 | - | 1 |
14-73978264-T-TA | c.1558+445dup | - | IntronicInsertion | - | 7/17 | 1 |
14-73978586-C-T | c.1558+124G>A | - | IntronicSNV | - | 7/17 | 1 |
14-73978718-C-A | c.1550G>T | p.R517I | Missense | 7/18 | - | 1 |
14-73978730-G-A | c.1538C>T | p.A513V | Missense | 7/18 | - | 4 |
14-73978734-T-G | c.1534A>C | p.I512L | Missense | 7/18 | - | 1 |
14-73978736-C-T | c.1532G>A | p.R511Q | Missense | 7/18 | - | 2 |
14-73978737-G-A | c.1531C>T | p.R511W | Missense | 7/18 | - | 2 |
14-73978741-C-T | c.1527G>A | p.R509= | Synonymous | 7/18 | - | 3 |
14-73978742-C-T | c.1526G>A | p.R509Q | Missense | 7/18 | - | 2 |
14-73978741-C-A | c.1527G>T | p.R509= | Synonymous | 7/18 | - | 1 |
14-73978741-C-G | c.1527G>C | p.R509= | Synonymous | 7/18 | - | 1 |
14-73978743-G-A | c.1525C>T | p.R509W | Missense | 7/18 | - | 5 |
14-73978743-G-T | c.1525C>A | p.R509= | Synonymous | 7/18 | - | 1 |
14-73978746-C-G | c.1522G>C | p.E508Q | Missense | 7/18 | - | 3 |
14-73978746-C-T | c.1522G>A | p.E508K | Missense | 7/18 | - | 1 |
14-73978755-C-T | c.1513G>A | p.A505T | Missense | 7/18 | - | 1 |
14-73978760-G-A | c.1508C>T | p.A503V | Missense | 7/18 | - | 1 |
14-73978763-C-T | c.1505G>A | p.C502Y | Missense | 7/18 | - | 1 |
14-73978772-A-C | c.1496T>G | p.I499S | Missense | 7/18 | - | 2 |
14-73978783-C-A | c.1485G>T | p.R495= | Synonymous | 7/18 | - | 2 |
14-73978784-C-T | c.1484G>A | p.R495Q | Missense | 7/18 | - | 1 |
14-73978785-G-A | c.1483C>T | p.R495W | Missense | 7/18 | - | 2 |
14-73978788-C-T | c.1480G>A | p.V494I | Missense | 7/18 | - | 1 |
14-73978796-T-C | c.1472A>G | p.H491R | Missense | 7/18 | - | 1 |
14-73978798-CAGGTCTCCCA-C | c.1460_1469del | p.L487Cfs*45 | Frameshift | 7/18 | - | 2 |
14-73978805-C-T | c.1463G>A | p.G488E | Missense | 7/18 | - | 1 |
14-73978810-G-A | c.1458C>T | p.S486= | Synonymous | 7/18 | - | 1 |
14-73978811-C-T | c.1457G>A | p.S486N | Missense | 7/18 | - | 1 |
14-73978814-T-C | c.1454A>G | p.Q485R | Missense | 7/18 | - | 1 |
14-73978820-A-G | c.1448T>C | p.L483P | Missense | 7/18 | - | 1 |
14-73978822-G-A | c.1446C>T | p.N482= | Synonymous | 7/18 | - | 1 |
14-73978824-T-A | c.1444A>T | p.N482Y | Missense | 7/18 | - | 1 |
14-73978827-C-T | c.1441G>A | p.E481K | Missense | 7/18 | - | 1 |
14-73978828-T-A | c.1440A>T | p.V480= | Synonymous | 7/18 | - | 1 |
14-73978828-T-C | c.1440A>G | p.V480= | Synonymous | 7/18 | - | 1 |
14-73978828-T-G | c.1440A>C | p.V480= | Synonymous | 7/18 | - | 1 |
14-73978829-A-G | c.1439T>C | p.V480A | Missense | 7/18 | - | 1 |
14-73978832-G-A | c.1436C>T | p.T479I | Missense | 7/18 | - | 1 |
14-73978837-A-C | c.1431T>G | p.H477Q | Missense | 7/18 | - | 1 |
14-73978837-A-T | c.1431T>A | p.H477Q | Missense | 7/18 | - | 1 |
14-73978840-G-C | c.1428C>G | p.H476Q | Missense | 7/18 | - | 1 |
14-73978842-G-C | c.1426C>G | p.H476D | Missense | 7/18 | - | 1 |
14-73978847-T-G | c.1421A>C | p.E474A | Missense | 7/18 | - | 1 |
14-73978848-C-T | c.1420G>A | p.E474K | Missense | 7/18 | - | 2 |
14-73980740-G-C | c.1409C>G | p.A470G | Missense | 6/18 | - | 1 |
14-73980744-A-G | c.1405T>C | p.W469R | Missense | 6/18 | - | 2 |
14-73980744-A-T | c.1405T>A | p.W469R | Missense | 6/18 | - | 1 |
14-73980749-G-A | c.1400C>T | p.T467I | Missense | 6/18 | - | 1 |
14-73980754-C-G | c.1395G>C | p.W465C | Missense | 6/18 | - | 1 |
14-73980756-A-C | c.1393T>G | p.W465G | Missense | 6/18 | - | 1 |
14-73980763-C-A | c.1386G>T | p.L462= | Synonymous | 6/18 | - | 1 |
14-73980763-C-G | c.1386G>C | p.L462= | Synonymous | 6/18 | - | 1 |
14-73980763-C-T | c.1386G>A | p.L462= | Synonymous | 6/18 | - | 1 |
14-73980765-G-A | c.1384C>T | p.L462= | Synonymous | 6/18 | - | 1 |
14-73980770-C-T | c.1379G>A | p.R460K | Missense | 6/18 | - | 1 |
14-73980770-CT-TA | c.1378_1379delinsTA | p.R460* | Nonsense | 6/18 | - | 1 |
14-73980770-CT-TG | c.1378_1379delinsCA | p.R460Q | Missense | 6/18 | - | 1 |
14-73980773-C-G | c.1376G>C | p.R459P | Missense | 6/18 | - | 5 |
14-73980773-C-T | c.1376G>A | p.R459Q | Missense | 6/18 | - | 1 |
14-73980777-G-A | c.1372C>T | p.L458= | Synonymous | 6/18 | - | 1 |
14-73980783-C-T | c.1366G>A | p.V456M | Missense | 6/18 | - | 1 |
14-73980789-C-T | c.1360G>A | p.E454K | Missense | 6/18 | - | 3 |
14-73980791-C-A | c.1358G>T | p.W453L | Missense | 6/18 | - | 1 |
14-73980801-C-T | c.1348G>A | p.D450N | Missense | 6/18 | - | 3 |
14-73980804-C-T | c.1345G>A | p.E449K | Missense | 6/18 | - | 2 |
14-73980805-C-G | c.1344G>C | p.Q448H | Missense | 6/18 | - | 1 |
14-73980812-G-C | c.1337C>G | p.S446* | Nonsense | 6/18 | - | 1 |
14-73980812-G-T | c.1337C>A | p.S446* | Nonsense | 6/18 | - | 1 |
14-73980825-T-G | c.1324A>C | p.K442Q | Missense | 6/18 | - | 1 |
14-73980830-A-C | c.1319T>G | p.L440W | Missense | 6/18 | - | 1 |
14-73980832-T-A | c.1317A>T | p.R439S | Missense | 6/18 | - | 1 |
14-73980832-T-G | c.1317A>C | p.R439S | Missense | 6/18 | - | 1 |
14-73980833-C-A | c.1316G>T | p.R439I | Missense | 6/18 | - | 1 |
14-73980842-T-A | c.1307A>T | p.K436M | Missense | 6/18 | - | 1 |
14-73980845-A-C | c.1304T>G | p.I435S | Missense | 6/18 | - | 1 |
14-73980847-A-G | c.1302T>C | p.P434= | Synonymous | 6/18 | - | 1 |
14-73980848-G-A | c.1301C>T | p.P434L | Missense | 6/18 | - | 2 |
14-73980849-G-A | c.1300C>T | p.P434S | Missense | 6/18 | - | 1 |
14-73980851-A-G | c.1298T>C | p.V433A | Missense | 6/18 | - | 1 |
14-73980867-C-T | c.1282G>A | p.V428M | Missense | 6/18 | - | 1 |
14-73980888-C-A | c.1261G>T | p.A421S | Missense | 6/18 | - | 1 |
14-73980889-G-A | c.1260C>T | p.P420= | Synonymous | 6/18 | - | 1 |
14-73980889-G-C | c.1260C>G | p.P420= | Synonymous | 6/18 | - | 1 |
14-73980889-G-T | c.1260C>A | p.P420= | Synonymous | 6/18 | - | 1 |
14-73980897-G-T | c.1252C>A | p.P418T | Missense | 6/18 | - | 1 |
14-73980907-C-T | c.1242G>A | p.W414* | Nonsense | 6/18 | - | 1 |
14-73980908-C-T | c.1241G>A | p.W414* | Nonsense | 6/18 | - | 2 |
14-73980912-G-A | c.1237C>T | p.R413C | Missense | 6/18 | - | 3 |
14-73980930-G-C | c.1219C>G | p.P407A | Missense | 6/18 | - | 3 |
14-73980932-C-T | c.1217G>A | p.R406K | Missense | 6/18 | - | 1 |
14-73980938-G-T | c.1211C>A | p.S404Y | Missense | 6/18 | - | 3 |
14-73980947-C-T | c.1211-9G>A | - | IntronicSNV | - | 5/17 | 1 |
14-73985727-A-G | c.1210T>C | p.S404P | Missense | 5/18 | - | 1 |
14-73985736-G-T | c.1201C>A | p.P401T | Missense | 5/18 | - | 1 |
14-73985743-C-A | c.1194G>T | p.Q398H | Missense | 5/18 | - | 2 |
14-73985743-C-G | c.1194G>C | p.Q398H | Missense | 5/18 | - | 1 |
14-73985747-G-A | c.1190C>T | p.A397V | Missense | 5/18 | - | 1 |
14-73985748-C-T | c.1189G>A | p.A397T | Missense | 5/18 | - | 1 |
14-73985749-A-C | c.1188T>G | p.S396R | Missense | 5/18 | - | 2 |
14-73985749-A-T | c.1188T>A | p.S396R | Missense | 5/18 | - | 3 |
14-73985751-T-G | c.1186A>C | p.S396R | Missense | 5/18 | - | 2 |
14-73985752-C-T | c.1185G>A | p.W395* | Nonsense | 5/18 | - | 4 |
14-73985753-C-T | c.1184G>A | p.W395* | Nonsense | 5/18 | - | 4 |
14-73985762-G-A | c.1175C>T | p.P392L | Missense | 5/18 | - | 2 |
14-73985771-G-T | c.1166C>A | p.P389H | Missense | 5/18 | - | 1 |
14-73985772-G-A | c.1165C>T | p.P389S | Missense | 5/18 | - | 2 |
14-73985776-G-A | c.1161C>T | p.V387= | Synonymous | 5/18 | - | 1 |
14-73985781-T-TA | c.1155dup | p.K386* | Nonsense | 5/18 | - | 1 |
14-73985788-C-T | c.1149G>A | p.Q383= | Synonymous | 5/18 | - | 1 |
14-73985790-G-A | c.1147C>T | p.Q383* | Nonsense | 5/18 | - | 1 |
14-73985794-G-C | c.1143C>G | p.N381K | Missense | 5/18 | - | 2 |
14-73985794-G-T | c.1143C>A | p.N381K | Missense | 5/18 | - | 1 |
14-73985796-T-C | c.1141A>G | p.N381D | Missense | 5/18 | - | 1 |
14-73985801-C-T | c.1136G>A | p.R379Q | Missense | 5/18 | - | 2 |
14-73985802-G-A | c.1135C>T | p.R379W | Missense | 5/18 | - | 4 |
14-73985804-T-C | c.1133A>G | p.N378S | Missense | 5/18 | - | 1 |
14-73985807-A-G | c.1130T>C | p.L377P | Missense | 5/18 | - | 1 |
14-73985814-C-A | c.1123G>T | p.E375* | Nonsense | 5/18 | - | 4 |
14-73985814-C-T | c.1123G>A | p.E375K | Missense | 5/18 | - | 7 |
14-73985818-G-A | c.1119C>T | p.V373= | Synonymous | 5/18 | - | 1 |
14-73985830-TCT-ATG | c.1105_1107delinsCAT | p.R369H | Missense | 5/18 | - | 1 |
14-73985831-C-G | c.1106G>C | p.R369T | Missense | 5/18 | - | 1 |
14-73985831-C-T | c.1106G>A | p.R369K | Missense | 5/18 | - | 1 |
14-73985833-C-T | c.1104G>A | p.K368= | Synonymous | 5/18 | - | 2 |
14-73985837-G-A | c.1100C>T | p.A367V | Missense | 5/18 | - | 1 |
14-73985838-C-T | c.1099G>A | p.A367T | Missense | 5/18 | - | 1 |
14-73985843-A-G | c.1094T>C | p.I365T | Missense | 5/18 | - | 1 |
14-73985854-G-A | c.1083C>T | p.I361= | Synonymous | 5/18 | - | 1 |
14-73985854-G-T | c.1083C>A | p.I361= | Synonymous | 5/18 | - | 1 |
14-73985856-T-C | c.1081A>G | p.I361V | Missense | 5/18 | - | 1 |
14-73985858-T-G | c.1079A>C | p.Q360P | Missense | 5/18 | - | 2 |
14-73985859-G-T | c.1078C>A | p.Q360K | Missense | 5/18 | - | 1 |
14-73987122-TA-T | c.1069+433del | - | IntronicDeletion | - | 4/17 | 1 |
14-73987491-G-A | c.1069+65C>T | - | IntronicSNV | - | 4/17 | 5 |
14-73987491-G-T | c.1069+65C>A | - | IntronicSNV | - | 4/17 | 3 |
14-73987553-T-A | c.1069+3A>T | - | IntronicSNV | - | 4/17 | 2 |
14-73987560-G-A | c.1065C>T | p.Y355= | Synonymous | 4/18 | - | 1 |
14-73987566-C-G | c.1059G>C | p.E353D | Missense | 4/18 | - | 1 |
14-73987568-C-G | c.1057G>C | p.E353Q | Missense | 4/18 | - | 1 |
14-73987568-C-T | c.1057G>A | p.E353K | Missense | 4/18 | - | 1 |
14-73987575-A-T | c.1050T>A | p.F350L | Missense | 4/18 | - | 1 |
14-73987577-A-G | c.1048T>C | p.F350L | Missense | 4/18 | - | 2 |
14-73987578-G-T | c.1047C>A | p.T349= | Synonymous | 4/18 | - | 1 |
14-73987579-G-T | c.1046C>A | p.T349N | Missense | 4/18 | - | 1 |
14-73987585-T-C | c.1040A>G | p.D347G | Missense | 4/18 | - | 1 |
14-73987586-C-A | c.1039G>T | p.D347Y | Missense | 4/18 | - | 2 |
14-73987586-C-T | c.1039G>A | p.D347N | Missense | 4/18 | - | 1 |
14-73987594-T-C | c.1031A>G | p.Y344C | Missense | 4/18 | - | 1 |
14-73987610-C-A | c.1015G>T | p.A339S | Missense | 4/18 | - | 1 |
14-73987612-C-T | c.1013G>A | p.R338Q | Missense | 4/18 | - | 1 |
14-73987613-G-A | c.1012C>T | p.R338* | Nonsense | 4/18 | - | 1 |
14-73987615-G-A | c.1010C>T | p.P337L | Missense | 4/18 | - | 2 |
14-73987618-G-C | c.1007C>G | p.T336S | Missense | 4/18 | - | 1 |
14-73987619-T-A | c.1006A>T | p.T336S | Missense | 4/18 | - | 1 |
14-73987618-G-GT | c.1006dup | p.T336Nfs*16 | Frameshift | 4/18 | - | 1 |
14-73987625-G-T | c.1000C>A | p.Q334K | Missense | 4/18 | - | 1 |
14-73987627-C-T | c.998G>A | p.R333H | Missense | 4/18 | - | 2 |
14-73987628-G-A | c.997C>T | p.R333C | Missense | 4/18 | - | 1 |
14-73987628-G-T | c.997C>A | p.R333S | Missense | 4/18 | - | 3 |
14-73987629-A-C | c.996T>G | p.F332L | Missense | 4/18 | - | 1 |
14-73987638-C-G | c.987G>C | p.Q329H | Missense | 4/18 | - | 1 |
14-73987640-G-C | c.985C>G | p.Q329E | Missense | 4/18 | - | 1 |
14-73987649-G-A | c.976C>T | p.P326S | Missense | 4/18 | - | 1 |
14-73987652-G-A | c.973C>T | p.Q325* | Nonsense | 4/18 | - | 1 |
14-73987654-G-A | c.971C>T | p.S324F | Missense | 4/18 | - | 1 |
14-73987656-G-A | c.969C>T | p.L323= | Synonymous | 4/18 | - | 1 |
14-73987656-G-C | c.969C>G | p.L323= | Synonymous | 4/18 | - | 1 |
14-73987656-G-T | c.969C>A | p.L323= | Synonymous | 4/18 | - | 1 |
14-73987658-G-A | c.967C>T | p.L323F | Missense | 4/18 | - | 5 |
14-73987658-G-T | c.967C>A | p.L323I | Missense | 4/18 | - | 3 |
14-73987662-C-A | c.963G>T | p.T321= | Synonymous | 4/18 | - | 1 |
14-73987662-C-G | c.963G>C | p.T321= | Synonymous | 4/18 | - | 1 |
14-73987662-C-T | c.963G>A | p.T321= | Synonymous | 4/18 | - | 2 |
14-73987663-G-A | c.962C>T | p.T321M | Missense | 4/18 | - | 2 |
14-73987670-C-T | c.955G>A | p.E319K | Missense | 4/18 | - | 4 |
14-73987679-C-T | c.946G>A | p.D316N | Missense | 4/18 | - | 2 |
14-73987680-C-T | c.945G>A | p.E315= | Synonymous | 4/18 | - | 1 |
14-73987687-C-T | c.938G>A | p.S313N | Missense | 4/18 | - | 2 |
14-73987702-A-T | c.923T>A | p.M308K | Missense | 4/18 | - | 1 |
14-73987709-C-G | c.916G>C | p.E306Q | Missense | 4/18 | - | 1 |
14-73987709-C-T | c.916G>A | p.E306K | Missense | 4/18 | - | 2 |
14-73987711-A-G | c.914T>C | p.V305A | Missense | 4/18 | - | 1 |
14-73987714-G-A | c.911C>T | p.T304I | Missense | 4/18 | - | 1 |
14-73987718-C-G | c.907G>C | p.E303Q | Missense | 4/18 | - | 1 |
14-73987727-G-A | c.898C>T | p.Q300* | Nonsense | 4/18 | - | 1 |
14-73987736-T-G | c.889A>C | p.S297R | Missense | 4/18 | - | 1 |
14-73987735-CT-GG | c.889_890delinsCC | p.S297P | Missense | 4/18 | - | 1 |
14-73987738-G-A | c.887C>T | p.P296L | Missense | 4/18 | - | 1 |
14-73987739-G-A | c.886C>T | p.P296S | Missense | 4/18 | - | 3 |
14-73988895-C-T | c.881+81G>A | - | IntronicSNV | - | 3/17 | 1 |
14-73988979-T-C | c.878A>G | p.Y293C | Missense | 3/18 | - | 1 |
14-73988979-T-G | c.878A>C | p.Y293S | Missense | 3/18 | - | 1 |
14-73988983-A-T | c.874T>A | p.Y292N | Missense | 3/18 | - | 1 |
14-73988985-A-G | c.872T>C | p.V291A | Missense | 3/18 | - | 1 |
14-73988986-AC-A | c.871del | p.V291Ffs*45 | Frameshift | 3/18 | - | 1 |
14-73988986-C-T | c.871G>A | p.V291I | Missense | 3/18 | - | 3 |
14-73988987-G-T | c.870C>A | p.P290= | Synonymous | 3/18 | - | 1 |
14-73989001-C-T | c.856G>A | p.E286K | Missense | 3/18 | - | 1 |
14-73989008-C-A | c.849G>T | p.K283N | Missense | 3/18 | - | 1 |
14-73989008-C-G | c.849G>C | p.K283N | Missense | 3/18 | - | 1 |
14-73989015-T-C | c.842A>G | p.E281G | Missense | 3/18 | - | 3 |
14-73989016-C-T | c.841G>A | p.E281K | Missense | 3/18 | - | 6 |
14-73989019-G-T | c.838C>A | p.Q280K | Missense | 3/18 | - | 1 |
14-73989021-G-T | c.836C>A | p.P279Q | Missense | 3/18 | - | 1 |
14-73989022-G-C | c.835C>G | p.P279A | Missense | 3/18 | - | 1 |
14-73989020-TG-T | c.836del | p.P279Hfs*57 | Frameshift | 3/18 | - | 1 |
14-73989025-G-T | c.832C>A | p.P278T | Missense | 3/18 | - | 1 |
14-73989032-G-A | c.825C>T | p.V275= | Synonymous | 3/18 | - | 1 |
14-73989032-G-C | c.825C>G | p.V275= | Synonymous | 3/18 | - | 1 |
14-73989032-G-T | c.825C>A | p.V275= | Synonymous | 3/18 | - | 1 |
14-73989036-C-A | c.821G>T | p.S274I | Missense | 3/18 | - | 2 |
14-73989051-T-A | c.806A>T | p.E269V | Missense | 3/18 | - | 1 |
14-73989055-C-A | c.802G>T | p.A268S | Missense | 3/18 | - | 1 |
14-73989058-T-A | c.799A>T | p.T267S | Missense | 3/18 | - | 1 |
14-73989064-C-G | c.793G>C | p.E265Q | Missense | 3/18 | - | 1 |
14-73989067-C-A | c.790G>T | p.A264S | Missense | 3/18 | - | 1 |
14-73989067-C-T | c.790G>A | p.A264T | Missense | 3/18 | - | 1 |
14-73989070-C-G | c.787G>C | p.E263Q | Missense | 3/18 | - | 1 |
14-73989076-G-C | c.781C>G | p.Q261E | Missense | 3/18 | - | 1 |
14-73989077-T-C | c.780A>G | p.K260= | Synonymous | 3/18 | - | 1 |
14-73989078-T-A | c.779A>T | p.K260I | Missense | 3/18 | - | 1 |
14-73989088-C-G | c.769G>C | p.E257Q | Missense | 3/18 | - | 1 |
14-73989089-C-A | c.768G>T | p.L256= | Synonymous | 3/18 | - | 2 |
14-73989089-C-G | c.768G>C | p.L256= | Synonymous | 3/18 | - | 2 |
14-73989089-C-T | c.768G>A | p.L256= | Synonymous | 3/18 | - | 2 |
14-73989091-G-A | c.766C>T | p.L256= | Synonymous | 3/18 | - | 2 |
14-73989096-C-T | c.761G>A | p.S254N | Missense | 3/18 | - | 1 |
14-73989100-C-G | c.757G>C | p.A253P | Missense | 3/18 | - | 1 |
14-73989108-A-C | c.749T>G | p.L250R | Missense | 3/18 | - | 1 |
14-73989113-A-C | c.744T>G | p.D248E | Missense | 3/18 | - | 2 |
14-73989113-A-T | c.744T>A | p.D248E | Missense | 3/18 | - | 2 |
14-73989117-C-A | c.740G>T | p.R247L | Missense | 3/18 | - | 1 |
14-73989121-T-C | c.736A>G | p.I246V | Missense | 3/18 | - | 1 |
14-73989122-G-A | c.735C>T | p.H245= | Synonymous | 3/18 | - | 1 |
14-73989123-T-C | c.734A>G | p.H245R | Missense | 3/18 | - | 1 |
14-73989124-G-A | c.733C>T | p.H245Y | Missense | 3/18 | - | 1 |
14-73989131-G-C | c.726C>G | p.D242E | Missense | 3/18 | - | 1 |
14-73989131-G-T | c.726C>A | p.D242E | Missense | 3/18 | - | 3 |
14-73989136-A-G | c.721T>C | p.Y241H | Missense | 3/18 | - | 3 |
14-73989139-G-A | c.718C>T | p.Q240* | Nonsense | 3/18 | - | 1 |
14-73989140-C-A | c.717G>T | p.Q239H | Missense | 3/18 | - | 3 |
14-73989140-C-G | c.717G>C | p.Q239H | Missense | 3/18 | - | 2 |
14-73989140-C-T | c.717G>A | p.Q239= | Synonymous | 3/18 | - | 1 |
14-73989141-T-C | c.716A>G | p.Q239R | Missense | 3/18 | - | 1 |
14-73989143-G-A | c.714C>T | p.R238= | Synonymous | 3/18 | - | 1 |
14-73989143-G-C | c.714C>G | p.R238= | Synonymous | 3/18 | - | 1 |
14-73989143-G-T | c.714C>A | p.R238= | Synonymous | 3/18 | - | 1 |
14-73989144-C-T | c.713G>A | p.R238H | Missense | 3/18 | - | 1 |
14-73989145-G-A | c.712C>T | p.R238C | Missense | 3/18 | - | 12 |
14-73989147-A-T | c.710T>A | p.L237Q | Missense | 3/18 | - | 1 |
14-73989158-C-T | c.699G>A | p.W233* | Nonsense | 3/18 | - | 1 |
14-73989159-C-T | c.698G>A | p.W233* | Nonsense | 3/18 | - | 1 |
14-73989169-G-A | c.688C>T | p.P230S | Missense | 3/18 | - | 1 |
14-73989170-G-A | c.687C>T | p.S229= | Synonymous | 3/18 | - | 1 |
14-73989170-G-C | c.687C>G | p.S229= | Synonymous | 3/18 | - | 1 |
14-73989170-G-T | c.687C>A | p.S229= | Synonymous | 3/18 | - | 1 |
14-73989171-G-A | c.686C>T | p.S229F | Missense | 3/18 | - | 5 |
14-73989172-A-G | c.685T>C | p.S229P | Missense | 3/18 | - | 1 |
14-73989178-C-G | c.679G>C | p.G227R | Missense | 3/18 | - | 1 |
14-73989185-TC-AT | c.671_672delinsAT | p.R224H | Missense | 3/18 | - | 1 |
14-73989186-C-A | c.671G>T | p.R224L | Missense | 3/18 | - | 1 |
14-73989186-C-T | c.671G>A | p.R224Q | Missense | 3/18 | - | 7 |
14-73989187-G-A | c.670C>T | p.R224* | Nonsense | 3/18 | - | 1 |
14-73989189-G-A | c.668C>T | p.P223L | Missense | 3/18 | - | 1 |
14-73989193-G-A | c.664C>T | p.R222C | Missense | 3/18 | - | 2 |
14-73989193-G-T | c.664C>A | p.R222S | Missense | 3/18 | - | 3 |
14-73989200-C-G | c.657G>C | p.Q219H | Missense | 3/18 | - | 1 |
14-73989211-G-A | c.646C>T | p.R216* | Nonsense | 3/18 | - | 2 |
14-73989218-GCG-CCA | c.637_639delinsTGG | p.R213W | Missense | 3/18 | - | 1 |
14-73989219-C-T | c.638G>A | p.R213H | Missense | 3/18 | - | 3 |
14-73989221-C-T | c.636G>A | p.E212= | Synonymous | 3/18 | - | 1 |
14-73989223-C-T | c.634G>A | p.E212K | Missense | 3/18 | - | 2 |
14-73989224-G-C | c.633C>G | p.N211K | Missense | 3/18 | - | 2 |
14-73989224-G-T | c.633C>A | p.N211K | Missense | 3/18 | - | 1 |
14-73989225-T-A | c.632A>T | p.N211I | Missense | 3/18 | - | 1 |
14-73989229-G-T | c.628C>A | p.L210M | Missense | 3/18 | - | 1 |
14-73989230-C-G | c.627G>C | p.K209N | Missense | 3/18 | - | 1 |
14-73989241-C-T | c.616G>A | p.V206M | Missense | 3/18 | - | 2 |
14-73989247-C-T | c.610G>A | p.A204T | Missense | 3/18 | - | 1 |
14-73989251-C-G | c.606G>C | p.W202C | Missense | 3/18 | - | 1 |
14-73989255-G-A | c.602C>T | p.A201V | Missense | 3/18 | - | 2 |
14-73989258-C-G | c.599G>C | p.R200T | Missense | 3/18 | - | 1 |
14-73989272-A-G | c.585T>C | p.P195= | Synonymous | 3/18 | - | 1 |
14-73989273-G-A | c.584C>T | p.P195L | Missense | 3/18 | - | 3 |
14-73989283-G-A | c.574C>T | p.L192F | Missense | 3/18 | - | 1 |
14-73989284-C-G | c.573G>C | p.W191C | Missense | 3/18 | - | 1 |
14-73989284-C-T | c.573G>A | p.W191* | Nonsense | 3/18 | - | 1 |
14-73989285-C-A | c.572G>T | p.W191L | Missense | 3/18 | - | 1 |
14-73989285-C-T | c.572G>A | p.W191* | Nonsense | 3/18 | - | 1 |
14-73989289-C-T | c.568G>A | p.A190T | Missense | 3/18 | - | 1 |
14-73989293-TCT-CCA | c.562_564delinsTGG | p.R188W | Missense | 3/18 | - | 1 |
14-73989293-T-G | c.564A>C | p.R188S | Missense | 3/18 | - | 1 |
14-73989298-C-T | c.559G>A | p.E187K | Missense | 3/18 | - | 2 |
14-73989303-AG-A | c.553del | p.L185Wfs*26 | Frameshift | 3/18 | - | 1 |
14-73989308-C-A | c.549G>T | p.V183= | Synonymous | 3/18 | - | 2 |
14-73989308-C-G | c.549G>C | p.V183= | Synonymous | 3/18 | - | 2 |
14-73989308-C-T | c.549G>A | p.V183= | Synonymous | 3/18 | - | 3 |
14-73989312-T-G | c.545A>C | p.D182A | Missense | 3/18 | - | 1 |
14-73989313-C-G | c.544G>C | p.D182H | Missense | 3/18 | - | 1 |
14-73989315-A-C | c.542T>G | p.L181R | Missense | 3/18 | - | 1 |
14-73989316-G-C | c.541C>G | p.L181V | Missense | 3/18 | - | 4 |
14-73989321-G-A | c.536C>T | p.P179L | Missense | 3/18 | - | 5 |
14-73989328-G-A | c.529C>T | p.R177W | Missense | 3/18 | - | 1 |
14-73989331-C-A | c.526G>T | p.G176C | Missense | 3/18 | - | 1 |
14-73989334-G-A | c.523C>T | p.L175= | Synonymous | 3/18 | - | 1 |
14-73989334-G-T | c.523C>A | p.L175M | Missense | 3/18 | - | 2 |
14-73989353-G-T | c.504C>A | p.P168= | Synonymous | 3/18 | - | 1 |
14-73989356-A-C | c.501T>G | p.H167Q | Missense | 3/18 | - | 1 |
14-73989358-G-A | c.499C>T | p.H167Y | Missense | 3/18 | - | 3 |
14-73989364-T-G | c.493A>C | p.I165L | Missense | 3/18 | - | 1 |
14-73989367-G-A | c.490C>T | p.L164F | Missense | 3/18 | - | 3 |
14-73989369-G-T | c.488C>A | p.P163H | Missense | 3/18 | - | 8 |
14-73989370-G-A | c.487C>T | p.P163S | Missense | 3/18 | - | 1 |
14-73989371-G-A | c.486C>T | p.R162= | Synonymous | 3/18 | - | 1 |
14-73989371-G-C | c.486C>G | p.R162= | Synonymous | 3/18 | - | 1 |
14-73989371-G-T | c.486C>A | p.R162= | Synonymous | 3/18 | - | 1 |
14-73989372-C-T | c.485G>A | p.R162H | Missense | 3/18 | - | 6 |
14-73989374-G-T | c.483C>A | p.P161= | Synonymous | 3/18 | - | 1 |
14-73989375-G-A | c.482C>T | p.P161L | Missense | 3/18 | - | 2 |
14-73989379-C-T | c.478G>A | p.A160T | Missense | 3/18 | - | 1 |
14-73989384-C-T | c.473G>A | p.R158Q | Missense | 3/18 | - | 2 |
14-73989385-G-A | c.472C>T | p.R158W | Missense | 3/18 | - | 1 |
14-73989387-A-C | c.470T>G | p.V157G | Missense | 3/18 | - | 1 |
14-73989389-G-A | c.468C>T | p.T156= | Synonymous | 3/18 | - | 4 |
14-73989392-G-A | c.465C>T | p.S155= | Synonymous | 3/18 | - | 1 |
14-73989395-G-A | c.462C>T | p.A154= | Synonymous | 3/18 | - | 1 |
14-73989395-G-C | c.462C>G | p.A154= | Synonymous | 3/18 | - | 1 |
14-73989395-G-T | c.462C>A | p.A154= | Synonymous | 3/18 | - | 1 |
14-73989396-G-C | c.461C>G | p.A154G | Missense | 3/18 | - | 1 |
14-73989405-G-A | c.452C>T | p.S151L | Missense | 3/18 | - | 1 |
14-73989412-T-G | c.445A>C | p.K149Q | Missense | 3/18 | - | 1 |
14-73989420-T-C | c.437A>G | p.K146R | Missense | 3/18 | - | 1 |
14-73989421-T-C | c.436A>G | p.K146E | Missense | 3/18 | - | 2 |
14-73989422-T-C | c.435A>G | p.E145= | Synonymous | 3/18 | - | 2 |
14-73989424-C-T | c.433G>A | p.E145K | Missense | 3/18 | - | 7 |
14-73989432-G-A | c.425C>T | p.A142V | Missense | 3/18 | - | 2 |
14-73989439-T-C | c.418A>G | p.S140G | Missense | 3/18 | - | 2 |
14-73989442-C-T | c.415G>A | p.E139K | Missense | 3/18 | - | 4 |
14-73989444-G-A | c.413C>T | p.T138I | Missense | 3/18 | - | 3 |
14-73989444-G-C | c.413C>G | p.T138R | Missense | 3/18 | - | 1 |
14-73989448-T-C | c.409A>G | p.K137E | Missense | 3/18 | - | 1 |
14-73989449-C-A | c.408G>T | p.V136= | Synonymous | 3/18 | - | 1 |
14-73989449-C-G | c.408G>C | p.V136= | Synonymous | 3/18 | - | 1 |
14-73989449-C-T | c.408G>A | p.V136= | Synonymous | 3/18 | - | 1 |
14-73989454-C-T | c.403G>A | p.A135T | Missense | 3/18 | - | 4 |
14-73989470-TG-CA | c.386_387inv | p.T129M | Missense | 3/18 | - | 1 |
14-73989471-G-T | c.386C>A | p.T129K | Missense | 3/18 | - | 1 |
14-73989473-TAA-CAT | c.382_384delinsATG | p.L128M | Missense | 3/18 | - | 2 |
14-73989480-C-T | c.377G>A | p.S126N | Missense | 3/18 | - | 1 |
14-73989483-G-C | c.374C>G | p.S125* | Nonsense | 3/18 | - | 1 |
14-73989483-G-T | c.374C>A | p.S125* | Nonsense | 3/18 | - | 1 |
14-73989486-G-A | c.371C>T | p.S124F | Missense | 3/18 | - | 3 |
14-73989500-G-A | c.357C>T | p.F119= | Synonymous | 3/18 | - | 1 |
14-73989510-G-A | c.347C>T | p.P116L | Missense | 3/18 | - | 1 |
14-73989511-G-A | c.346C>T | p.P116S | Missense | 3/18 | - | 2 |
14-73989519-GG-AA | c.337_338delinsTT | p.P113F | Missense | 3/18 | - | 1 |
14-73989523-G-A | c.334C>T | p.R112W | Missense | 3/18 | - | 1 |
14-73989524-G-A | c.333C>T | p.A111= | Synonymous | 3/18 | - | 3 |
14-73989524-G-C | c.333C>G | p.A111= | Synonymous | 3/18 | - | 1 |
14-73989524-G-T | c.333C>A | p.A111= | Synonymous | 3/18 | - | 1 |
14-73989525-G-C | c.332C>G | p.A111G | Missense | 3/18 | - | 1 |
14-73989526-C-T | c.331G>A | p.A111T | Missense | 3/18 | - | 1 |
14-73989536-C-T | c.321G>A | p.Q107= | Synonymous | 3/18 | - | 1 |
14-73989540-G-A | c.317C>T | p.P106L | Missense | 3/18 | - | 2 |
14-73989543-G-A | c.314C>T | p.T105I | Missense | 3/18 | - | 2 |
14-73989552-A-C | c.305T>G | p.I102S | Missense | 3/18 | - | 1 |
14-73989561-G-A | c.296C>T | p.T99I | Missense | 3/18 | - | 1 |
14-73989566-G-A | c.291C>T | p.Y97= | Synonymous | 3/18 | - | 3 |
14-73989574-G-C | c.283C>G | p.H95D | Missense | 3/18 | - | 1 |
14-73989577-C-G | c.280G>C | p.D94H | Missense | 3/18 | - | 1 |
14-73989577-C-T | c.280G>A | p.D94N | Missense | 3/18 | - | 7 |
14-73989578-A-T | c.279T>A | p.F93L | Missense | 3/18 | - | 1 |
14-73989581-G-T | c.276C>A | p.S92R | Missense | 3/18 | - | 1 |
14-73989608-C-A | c.249G>T | p.L83= | Synonymous | 3/18 | - | 2 |
14-73989608-C-G | c.249G>C | p.L83= | Synonymous | 3/18 | - | 3 |
14-73989608-C-T | c.249G>A | p.L83= | Synonymous | 3/18 | - | 2 |
14-73989610-G-A | c.247C>T | p.L83= | Synonymous | 3/18 | - | 2 |
14-73989613-C-A | c.244G>T | p.G82C | Missense | 3/18 | - | 1 |
14-73989615-C-T | c.242G>A | p.R81Q | Missense | 3/18 | - | 2 |
14-73989628-C-T | c.229G>A | p.V77M | Missense | 3/18 | - | 1 |
14-73989630-T-A | c.227A>T | p.E76V | Missense | 3/18 | - | 1 |
14-73989632-C-A | c.225G>T | p.Q75H | Missense | 3/18 | - | 1 |
14-73989632-C-G | c.225G>C | p.Q75H | Missense | 3/18 | - | 3 |
14-73989636-G-A | c.221C>T | p.S74F | Missense | 3/18 | - | 1 |
14-73989640-A-C | c.217T>G | p.F73V | Missense | 3/18 | - | 1 |
14-73989647-G-C | c.210C>G | p.N70K | Missense | 3/18 | - | 1 |
14-73989647-G-T | c.210C>A | p.N70K | Missense | 3/18 | - | 1 |
14-73989653-A-G | c.204T>C | p.A68= | Synonymous | 3/18 | - | 1 |
14-73989658-C-G | c.199G>C | p.A67P | Missense | 3/18 | - | 1 |
14-73989660-A-G | c.197T>C | p.M66T | Missense | 3/18 | - | 1 |
14-73989664-T-C | c.193A>G | p.K65E | Missense | 3/18 | - | 1 |
14-73989665-C-G | c.192G>C | p.L64F | Missense | 3/18 | - | 1 |
14-73989665-C-T | c.192G>A | p.L64= | Synonymous | 3/18 | - | 4 |
14-73989667-A-G | c.190T>C | p.L64= | Synonymous | 3/18 | - | 1 |
14-73989671-T-G | c.186A>C | p.Q62H | Missense | 3/18 | - | 1 |
14-73989677-C-A | c.180G>T | p.K60N | Missense | 3/18 | - | 1 |
14-73989677-C-T | c.180G>A | p.K60= | Synonymous | 3/18 | - | 1 |
14-73989677-CT-GA | c.179_180delinsTC | p.K60I | Missense | 3/18 | - | 1 |
14-73989679-T-C | c.178A>G | p.K60E | Missense | 3/18 | - | 1 |
14-73989680-G-A | c.177C>T | p.R59= | Synonymous | 3/18 | - | 2 |
14-73989680-GCG-CTT | c.175_177delinsAAG | p.R59K | Missense | 3/18 | - | 1 |
14-73989681-C-T | c.176G>A | p.R59H | Missense | 3/18 | - | 1 |
14-73989691-G-A | c.166C>T | p.R56C | Missense | 3/18 | - | 4 |
14-73989699-G-C | c.158C>G | p.S53* | Nonsense | 3/18 | - | 1 |
14-73989701-G-A | c.156C>T | p.S52= | Synonymous | 3/18 | - | 1 |
14-73989702-C-A | c.155G>T | p.S52I | Missense | 3/18 | - | 2 |
14-73989704-G-A | c.153C>T | p.F51= | Synonymous | 3/18 | - | 1 |
14-73989712-C-T | c.145G>A | p.V49I | Missense | 3/18 | - | 1 |
14-73989715-T-C | c.142A>G | p.M48V | Missense | 3/18 | - | 1 |
14-73989717-G-A | c.140C>T | p.P47L | Missense | 3/18 | - | 4 |
14-73989718-G-A | c.139C>T | p.P47S | Missense | 3/18 | - | 1 |
14-73989721-C-T | c.136G>A | p.V46M | Missense | 3/18 | - | 1 |
14-73989730-C-T | c.127G>A | p.V43I | Missense | 3/18 | - | 1 |
14-73989732-G-T | c.125C>A | p.S42Y | Missense | 3/18 | - | 1 |
14-73989736-C-T | c.121G>A | p.A41T | Missense | 3/18 | - | 1 |
14-73989745-C-T | c.112G>A | p.E38K | Missense | 3/18 | - | 3 |
14-73989746-C-T | c.111G>A | p.K37= | Synonymous | 3/18 | - | 1 |
14-73989748-T-G | c.109A>C | p.K37Q | Missense | 3/18 | - | 1 |
14-73989750-C-A | c.107G>T | p.G36V | Missense | 3/18 | - | 1 |
14-73989750-C-T | c.107G>A | p.G36D | Missense | 3/18 | - | 1 |
14-73989755-C-G | c.102G>C | p.L34F | Missense | 3/18 | - | 1 |
14-73989757-A-C | c.100T>G | p.L34V | Missense | 3/18 | - | 1 |
14-73989762-G-C | c.95C>G | p.S32* | Nonsense | 3/18 | - | 1 |
14-73989776-C-A | c.81G>T | p.M27I | Missense | 3/18 | - | 1 |
14-73989776-C-G | c.81G>C | p.M27I | Missense | 3/18 | - | 1 |
14-73989776-C-T | c.81G>A | p.M27I | Missense | 3/18 | - | 1 |
14-73989777-A-G | c.80T>C | p.M27T | Missense | 3/18 | - | 1 |
14-73989782-C-T | c.75G>A | p.W25* | Nonsense | 3/18 | - | 1 |
14-73989783-C-T | c.74G>A | p.W25* | Nonsense | 3/18 | - | 1 |
14-73989786-C-T | c.71G>A | p.G24E | Missense | 3/18 | - | 2 |
14-73989787-C-G | c.70G>C | p.G24R | Missense | 3/18 | - | 1 |
14-73989790-G-T | c.67C>A | p.L23M | Missense | 3/18 | - | 1 |
14-73989792-C-T | c.65G>A | p.R22Q | Missense | 3/18 | - | 2 |
14-73989793-G-A | c.64C>T | p.R22* | Nonsense | 3/18 | - | 5 |
14-73989795-G-A | c.62C>T | p.P21L | Missense | 3/18 | - | 1 |
14-73989796-G-T | c.61C>A | p.P21T | Missense | 3/18 | - | 1 |
14-73989794-TG-T | c.62del | p.P21Hfs*7 | Frameshift | 3/18 | - | 2 |
14-73989799-G-A | c.58C>T | p.P20S | Missense | 3/18 | - | 1 |
14-73989806-C-T | c.51G>A | p.Q17= | Synonymous | 3/18 | - | 1 |
14-73989808-G-A | c.49C>T | p.Q17* | Nonsense | 3/18 | - | 1 |
14-73989808-G-C | c.49C>G | p.Q17E | Missense | 3/18 | - | 3 |
14-73989809-A-G | c.48T>C | p.Y16= | Synonymous | 3/18 | - | 1 |
14-73989815-G-A | c.42C>T | p.C14= | Synonymous | 3/18 | - | 1 |
14-73989816-C-T | c.41G>A | p.C14Y | Missense | 3/18 | - | 12 |
14-73989820-G-C | c.37C>G | p.H13D | Missense | 3/18 | - | 1 |
14-73989823-G-A | c.34C>T | p.P12S | Missense | 3/18 | - | 2 |
14-73989819-TG-T | c.37del | p.H13Ifs*15 | Frameshift | 3/18 | - | 1 |
14-73989827-A-C | c.30T>G | p.F10L | Missense | 3/18 | - | 2 |
14-73989827-A-T | c.30T>A | p.F10L | Missense | 3/18 | - | 2 |
14-73989829-A-G | c.28T>C | p.F10L | Missense | 3/18 | - | 2 |
14-73989833-C-T | c.24G>A | p.K8= | Synonymous | 3/18 | - | 2 |
14-73989837-C-G | c.20G>C | p.G7A | Missense | 3/18 | - | 1 |
14-73989837-C-T | c.20G>A | p.G7E | Missense | 3/18 | - | 1 |
14-73989838-C-T | c.19G>A | p.G7R | Missense | 3/18 | - | 1 |
14-73989839-C-G | c.18G>C | p.K6N | Missense | 3/18 | - | 1 |
14-73989840-T-C | c.17A>G | p.K6R | Missense | 3/18 | - | 4 |
14-73989844-G-A | c.13C>T | p.Q5* | Nonsense | 3/18 | - | 1 |
14-73989849-CT-AG | c.7_8inv | p.R3L | Missense | 3/18 | - | 1 |
14-73989849-CT-TA | c.7_8delinsTA | p.R3* | Nonsense | 3/18 | - | 1 |
14-73989852-G-A | c.5C>T | p.T2I | Missense | 3/18 | - | 1 |
14-73989859-C-G | c.-3G>C | - | 5-UTRSNV | 3/18 | - | 12 |
14-73989859-C-T | c.-3G>A | - | 5-UTRSNV | 3/18 | - | 12 |
14-73990117-T-C | c.-72-189A>G | - | IntronicSNV | - | 2/17 | 1 |
14-73990160-T-C | c.-72-232A>G | - | IntronicSNV | - | 2/17 | 1 |
14-73993369-C-T | c.-72-3441G>A | - | IntronicSNV | - | 2/17 | 1 |
14-73996947-G-A | c.-150C>T | - | splice_region_variant,5_prime_UTR_variant | 2/18 | - | 1 |
14-73997871-C-A | c.-151-923G>T | - | intron_variant | - | 1/17 | 1 |