12-5949024-G-A |
c.8433C>T |
p.C2811= |
Synonymous |
52/52 |
- |
2 |
12-5949024-G-T |
c.8433C>A |
p.C2811* |
Nonsense |
52/52 |
- |
1 |
12-5949025-CA-GC |
c.8431_8432delinsGC |
p.C2811A |
Missense |
52/52 |
- |
2 |
12-5949027-C-T |
c.8430G>A |
p.K2810= |
Synonymous |
52/52 |
- |
1 |
12-5949034-G-A |
c.8423C>T |
p.P2808L |
Missense |
52/52 |
- |
1 |
12-5949035-G-A |
c.8422C>T |
p.P2808S |
Missense |
52/52 |
- |
3 |
12-5949037-G-A |
c.8420C>T |
p.S2807F |
Missense |
52/52 |
- |
4 |
12-5949037-G-T |
c.8420C>A |
p.S2807Y |
Missense |
52/52 |
- |
1 |
12-5949040-C-T |
c.8417G>A |
p.C2806Y |
Missense |
52/52 |
- |
1 |
12-5949041-A-G |
c.8416T>C |
p.C2806R |
Missense |
52/52 |
- |
1 |
12-5949046-C-T |
c.8411G>A |
p.C2804Y |
Missense |
52/52 |
- |
2 |
12-5949047-A-G |
c.8410T>C |
p.C2804R |
Missense |
52/52 |
- |
1 |
12-5949055-G-T |
c.8402C>A |
p.A2801D |
Missense |
52/52 |
- |
3 |
12-5949056-C-T |
c.8401G>A |
p.A2801T |
Missense |
52/52 |
- |
2 |
12-5949062-G-A |
c.8395C>T |
p.L2799F |
Missense |
52/52 |
- |
1 |
12-5949068-C-A |
c.8389G>T |
p.E2797* |
Nonsense |
52/52 |
- |
2 |
12-5949068-C-T |
c.8389G>A |
p.E2797K |
Missense |
52/52 |
- |
2 |
12-5949069-A-C |
c.8388T>G |
p.H2796Q |
Missense |
52/52 |
- |
3 |
12-5949069-A-T |
c.8388T>A |
p.H2796Q |
Missense |
52/52 |
- |
2 |
12-5949079-A-G |
c.8378T>C |
p.V2793A |
Missense |
52/52 |
- |
2 |
12-5949082-G-A |
c.8375C>T |
p.S2792F |
Missense |
52/52 |
- |
1 |
12-5949086-C-A |
c.8371G>T |
p.G2791C |
Missense |
52/52 |
- |
3 |
12-5949087-ATT-TTG |
c.8368_8370delinsCAA |
p.N2790Q |
Missense |
52/52 |
- |
2 |
12-5949090-G-A |
c.8367C>T |
p.T2789= |
Synonymous |
52/52 |
- |
2 |
12-5949091-G-A |
c.8366C>T |
p.T2789I |
Missense |
52/52 |
- |
2 |
12-5949091-G-C |
c.8366C>G |
p.T2789S |
Missense |
52/52 |
- |
3 |
12-5949091-G-T |
c.8366C>A |
p.T2789N |
Missense |
52/52 |
- |
1 |
12-5949098-G-A |
c.8359C>T |
p.H2787Y |
Missense |
52/52 |
- |
1 |
12-5949099-GC-G |
c.8358del |
p.H2787Tfs*62 |
Frameshift |
52/52 |
- |
1 |
12-5949101-G-T |
c.8356C>A |
p.L2786M |
Missense |
52/52 |
- |
3 |
12-5949102-G-A |
c.8355C>T |
p.A2785= |
Synonymous |
52/52 |
- |
4 |
12-5949107-C-A |
c.8350G>T |
p.V2784L |
Missense |
52/52 |
- |
1 |
12-5949110-G-A |
c.8347C>T |
p.Q2783* |
Nonsense |
52/52 |
- |
3 |
12-5949111-C-T |
c.8346G>A |
p.M2782I |
Missense |
52/52 |
- |
1 |
12-5949113-T-C |
c.8344A>G |
p.M2782V |
Missense |
52/52 |
- |
1 |
12-5949116-G-A |
c.8341C>T |
p.P2781S |
Missense |
52/52 |
- |
2 |
12-5949119-C-T |
c.8338G>A |
p.E2780K |
Missense |
52/52 |
- |
3 |
12-5949120-C-T |
c.8337G>A |
p.T2779= |
Synonymous |
52/52 |
- |
2 |
12-5949121-G-A |
c.8336C>T |
p.T2779M |
Missense |
52/52 |
- |
4 |
12-5949123-C-T |
c.8334G>A |
p.R2778= |
Synonymous |
52/52 |
- |
1 |
12-5949124-C-T |
c.8333G>A |
p.R2778Q |
Missense |
52/52 |
- |
3 |
12-5949125-G-A |
c.8332C>T |
p.R2778W |
Missense |
52/52 |
- |
2 |
12-5949129-C-T |
c.8328G>A |
p.P2776= |
Synonymous |
52/52 |
- |
2 |
12-5949130-G-A |
c.8327C>T |
p.P2776L |
Missense |
52/52 |
- |
6 |
12-5949134-A-G |
c.8323T>C |
p.S2775P |
Missense |
52/52 |
- |
1 |
12-5949135-G-C |
c.8322C>G |
p.C2774W |
Missense |
52/52 |
- |
1 |
12-5949138-G-A |
c.8319C>T |
p.C2773= |
Synonymous |
52/52 |
- |
1 |
12-5949139-CA-GT |
c.8317_8318delinsAC |
p.C2773T |
Missense |
52/52 |
- |
1 |
12-5949139-C-G |
c.8318G>C |
p.C2773S |
Missense |
52/52 |
- |
6 |
12-5949140-A-C |
c.8317T>G |
p.C2773G |
Missense |
52/52 |
- |
1 |
12-5949140-A-G |
c.8317T>C |
p.C2773R |
Missense |
52/52 |
- |
9 |
12-5949140-A-T |
c.8317T>A |
p.C2773S |
Missense |
52/52 |
- |
4 |
12-5949143-A-G |
c.8314T>C |
p.S2772P |
Missense |
52/52 |
- |
1 |
12-5949144-G-A |
c.8313C>T |
p.C2771= |
Synonymous |
52/52 |
- |
1 |
12-5949145-CA-GC |
c.8311_8312delinsGC |
p.C2771A |
Missense |
52/52 |
- |
1 |
12-5949145-C-T |
c.8312G>A |
p.C2771Y |
Missense |
52/52 |
- |
1 |
12-5949145-C-G |
c.8312G>C |
p.C2771S |
Missense |
52/52 |
- |
3 |
12-5949146-A-G |
c.8311T>C |
p.C2771R |
Missense |
52/52 |
- |
3 |
12-5949146-A-T |
c.8311T>A |
p.C2771S |
Missense |
52/52 |
- |
3 |
12-5949152-C-A |
c.8305G>T |
p.D2769Y |
Missense |
52/52 |
- |
2 |
12-5949152-C-T |
c.8305G>A |
p.D2769N |
Missense |
52/52 |
- |
4 |
12-5949161-C-T |
c.8296G>A |
p.D2766N |
Missense |
52/52 |
- |
2 |
12-5949162-G-A |
c.8295C>T |
p.N2765= |
Synonymous |
52/52 |
- |
3 |
12-5949165-G-C |
c.8292C>G |
p.I2764M |
Missense |
52/52 |
- |
1 |
12-5949170-C-A |
c.8287G>T |
p.D2763Y |
Missense |
52/52 |
- |
1 |
12-5949170-C-T |
c.8287G>A |
p.D2763N |
Missense |
52/52 |
- |
1 |
12-5949173-T-C |
c.8284A>G |
p.I2762V |
Missense |
52/52 |
- |
2 |
12-5949174-G-A |
c.8283C>T |
p.S2761= |
Synonymous |
52/52 |
- |
1 |
12-5949177-G-A |
c.8280C>T |
p.Y2760= |
Synonymous |
52/52 |
- |
1 |
12-5949179-A-G |
c.8278T>C |
p.Y2760H |
Missense |
52/52 |
- |
2 |
12-5949183-G-A |
c.8274C>T |
p.A2758= |
Synonymous |
52/52 |
- |
1 |
12-5949183-G-C |
c.8274C>G |
p.A2758= |
Synonymous |
52/52 |
- |
1 |
12-5949183-G-T |
c.8274C>A |
p.A2758= |
Synonymous |
52/52 |
- |
1 |
12-5949184-G-A |
c.8273C>T |
p.A2758V |
Missense |
52/52 |
- |
1 |
12-5949195-A-C |
c.8262T>G |
p.C2754W |
Missense |
52/52 |
- |
4 |
12-5949195-A-G |
c.8262T>C |
p.C2754= |
Synonymous |
52/52 |
- |
1 |
12-5949199-T-G |
c.8258A>C |
p.K2753T |
Missense |
52/52 |
- |
1 |
12-5949202-C-T |
c.8255G>A |
p.G2752D |
Missense |
52/52 |
- |
2 |
12-5949203-C-T |
c.8254G>A |
p.G2752S |
Missense |
52/52 |
- |
1 |
12-5949570-T-A |
c.8253+216A>T |
- |
IntronicSNV |
- |
51/51 |
1 |
12-5949570-T-G |
c.8253+216A>C |
- |
IntronicSNV |
- |
51/51 |
1 |
12-5949646-TA-T |
c.8253+139del |
- |
IntronicDeletion |
- |
51/51 |
2 |
12-5949727-T-C |
c.8253+59A>G |
- |
IntronicSNV |
- |
51/51 |
1 |
12-5949747-G-A |
c.8253+39C>T |
- |
IntronicSNV |
- |
51/51 |
3 |
12-5949754-A-G |
c.8253+32T>C |
- |
IntronicSNV |
- |
51/51 |
3 |
12-5949755-C-T |
c.8253+31G>A |
- |
IntronicSNV |
- |
51/51 |
1 |
12-5949788-G-A |
c.8251C>T |
p.Q2751* |
Nonsense |
51/52 |
- |
2 |
12-5949786-CTGGCAGTAG-C |
c.8244_8252del |
p.H2748_C2750del |
InFrameDeletion |
51/52 |
- |
2 |
12-5949792-G-T |
c.8247C>A |
p.Y2749* |
Nonsense |
51/52 |
- |
1 |
12-5949793-T-A |
c.8246A>T |
p.Y2749F |
Missense |
51/52 |
- |
1 |
12-5949795-G-A |
c.8244C>T |
p.H2748= |
Synonymous |
51/52 |
- |
1 |
12-5949797-G-A |
c.8242C>T |
p.H2748Y |
Missense |
51/52 |
- |
2 |
12-5949797-G-T |
c.8242C>A |
p.H2748N |
Missense |
51/52 |
- |
2 |
12-5949801-A-G |
c.8238T>C |
p.D2746= |
Synonymous |
51/52 |
- |
3 |
12-5949813-T-C |
c.8226A>G |
p.E2742= |
Synonymous |
51/52 |
- |
1 |
12-5949815-C-G |
c.8224G>C |
p.E2742Q |
Missense |
51/52 |
- |
1 |
12-5949818-A-AC |
c.8220dup |
p.S2741Vfs*2 |
Frameshift |
51/52 |
- |
1 |
12-5949823-C-T |
c.8216G>A |
p.C2739Y |
Missense |
51/52 |
- |
7 |
12-5949824-A-G |
c.8215T>C |
p.C2739R |
Missense |
51/52 |
- |
1 |
12-5949829-C-T |
c.8210G>A |
p.G2737E |
Missense |
51/52 |
- |
7 |
12-5949837-G-A |
c.8202C>T |
p.V2734= |
Synonymous |
51/52 |
- |
2 |
12-5949844-T-C |
c.8195A>G |
p.Q2732R |
Missense |
51/52 |
- |
1 |
12-5949844-T-G |
c.8195A>C |
p.Q2732P |
Missense |
51/52 |
- |
1 |
12-5949845-G-T |
c.8194C>A |
p.Q2732K |
Missense |
51/52 |
- |
1 |
12-5949850-C-A |
c.8189G>T |
p.R2730M |
Missense |
51/52 |
- |
1 |
12-5949851-T-A |
c.8188A>T |
p.R2730W |
Missense |
51/52 |
- |
1 |
12-5949854-C-A |
c.8185G>T |
p.A2729S |
Missense |
51/52 |
- |
1 |
12-5949854-C-T |
c.8185G>A |
p.A2729T |
Missense |
51/52 |
- |
1 |
12-5949855-A-G |
c.8184T>C |
p.T2728= |
Synonymous |
51/52 |
- |
1 |
12-5949856-G-A |
c.8183C>T |
p.T2728I |
Missense |
51/52 |
- |
3 |
12-5949857-T-A |
c.8182A>T |
p.T2728S |
Missense |
51/52 |
- |
1 |
12-5949863-C-T |
c.8176G>A |
p.D2726N |
Missense |
51/52 |
- |
4 |
12-5949864-G-A |
c.8175C>T |
p.N2725= |
Synonymous |
51/52 |
- |
2 |
12-5949865-T-C |
c.8174A>G |
p.N2725S |
Missense |
51/52 |
- |
1 |
12-5949865-T-G |
c.8174A>C |
p.N2725T |
Missense |
51/52 |
- |
1 |
12-5949866-T-C |
c.8173A>G |
p.N2725D |
Missense |
51/52 |
- |
1 |
12-5949868-C-T |
c.8171G>A |
p.C2724Y |
Missense |
51/52 |
- |
3 |
12-5949872-C-T |
c.8167G>A |
p.E2723K |
Missense |
51/52 |
- |
2 |
12-5949875-G-C |
c.8164C>G |
p.P2722A |
Missense |
51/52 |
- |
1 |
12-5949881-C-T |
c.8158G>A |
p.E2720K |
Missense |
51/52 |
- |
1 |
12-5951769-A-G |
c.8155+75T>C |
- |
IntronicSNV |
- |
50/51 |
1 |
12-5951794-G-A |
c.8155+50C>T |
- |
IntronicSNV |
- |
50/51 |
10 |
12-5951838-A-G |
c.8155+6T>C |
- |
IntronicSNV |
- |
50/51 |
2 |
12-5951841-C-A |
c.8155+3G>T |
- |
IntronicSNV |
- |
50/51 |
1 |
12-5951841-C-G |
c.8155+3G>C |
- |
IntronicSNV |
- |
50/51 |
3 |
12-5951840-TCA-T |
c.8155+2_8155+3del |
- |
IntronicDeletion |
50/52 |
50/51 |
1 |
12-5951843-C-A |
c.8155+1G>T |
- |
IntronicSNV |
- |
50/51 |
2 |
12-5951850-C-T |
c.8149G>A |
p.D2717N |
Missense |
50/52 |
- |
1 |
12-5951854-G-T |
c.8145C>A |
p.C2715* |
Nonsense |
50/52 |
- |
1 |
12-5951859-T-G |
c.8140A>C |
p.T2714P |
Missense |
50/52 |
- |
6 |
12-5951864-G-A |
c.8135C>T |
p.P2712L |
Missense |
50/52 |
- |
5 |
12-5951865-G-A |
c.8134C>T |
p.P2712S |
Missense |
50/52 |
- |
7 |
12-5951865-G-T |
c.8134C>A |
p.P2712T |
Missense |
50/52 |
- |
1 |
12-5951867-A-G |
c.8132T>C |
p.I2711T |
Missense |
50/52 |
- |
1 |
12-5951872-C-T |
c.8127G>A |
p.M2709I |
Missense |
50/52 |
- |
6 |
12-5951877-T-G |
c.8122A>C |
p.I2708L |
Missense |
50/52 |
- |
1 |
12-5951880-T-C |
c.8119A>G |
p.K2707E |
Missense |
50/52 |
- |
7 |
12-5951882-C-T |
c.8117G>A |
p.G2706D |
Missense |
50/52 |
- |
3 |
12-5951903-T-G |
c.8116-20A>C |
- |
IntronicSNV |
- |
49/51 |
9 |
12-5951935-G-A |
c.8116-52C>T |
- |
IntronicSNV |
- |
49/51 |
1 |
12-5952175-C-A |
c.8115+216G>T |
- |
IntronicSNV |
- |
49/51 |
1 |
12-5952175-C-T |
c.8115+216G>A |
- |
IntronicSNV |
- |
49/51 |
1 |
12-5952325-A-G |
c.8115+66T>C |
- |
IntronicSNV |
- |
49/51 |
8 |
12-5952369-G-T |
c.8115+22C>A |
- |
IntronicSNV |
- |
49/51 |
1 |
12-5952391-T-A |
c.8115A>T |
p.G2705= |
Synonymous |
49/52 |
- |
2 |
12-5952391-T-C |
c.8115A>G |
p.G2705= |
Synonymous |
49/52 |
- |
2 |
12-5952391-T-G |
c.8115A>C |
p.G2705= |
Synonymous |
49/52 |
- |
2 |
12-5952393-C-G |
c.8113G>C |
p.G2705R |
Missense |
49/52 |
- |
5 |
12-5952393-C-T |
c.8113G>A |
p.G2705R |
Missense |
49/52 |
- |
27 |
12-5952399-C-T |
c.8107G>A |
p.A2703T |
Missense |
49/52 |
- |
4 |
12-5952401-A-G |
c.8105T>C |
p.L2702P |
Missense |
49/52 |
- |
1 |
12-5952401-A-T |
c.8105T>A |
p.L2702Q |
Missense |
49/52 |
- |
1 |
12-5952407-T-C |
c.8099A>G |
p.K2700R |
Missense |
49/52 |
- |
1 |
12-5952409-G-A |
c.8097C>T |
p.H2699= |
Synonymous |
49/52 |
- |
1 |
12-5952410-T-G |
c.8096A>C |
p.H2699P |
Missense |
49/52 |
- |
5 |
12-5952413-T-C |
c.8093A>G |
p.E2698G |
Missense |
49/52 |
- |
1 |
12-5952413-T-G |
c.8093A>C |
p.E2698A |
Missense |
49/52 |
- |
1 |
12-5952414-C-T |
c.8092G>A |
p.E2698K |
Missense |
49/52 |
- |
1 |
12-5952415-A-T |
c.8091T>A |
p.D2697E |
Missense |
49/52 |
- |
1 |
12-5952416-T-C |
c.8090A>G |
p.D2697G |
Missense |
49/52 |
- |
2 |
12-5952422-G-A |
c.8084C>T |
p.P2695L |
Missense |
49/52 |
- |
5 |
12-5952422-G-C |
c.8084C>G |
p.P2695R |
Missense |
49/52 |
- |
6 |
12-5952427-G-A |
c.8079C>T |
p.C2693= |
Synonymous |
49/52 |
- |
4 |
12-5952428-C-T |
c.8078G>A |
p.C2693Y |
Missense |
49/52 |
- |
3 |
12-5952430-G-A |
c.8076C>T |
p.G2692= |
Synonymous |
49/52 |
- |
1 |
12-5952438-C-A |
c.8068G>T |
p.V2690F |
Missense |
49/52 |
- |
3 |
12-5952439-C-G |
c.8067G>C |
p.R2689S |
Missense |
49/52 |
- |
1 |
12-5952440-C-T |
c.8066G>A |
p.R2689K |
Missense |
49/52 |
- |
6 |
12-5952442-C-A |
c.8064G>T |
p.K2688N |
Missense |
49/52 |
- |
4 |
12-5952442-C-G |
c.8064G>C |
p.K2688N |
Missense |
49/52 |
- |
1 |
12-5952447-C-T |
c.8059G>A |
p.E2687K |
Missense |
49/52 |
- |
5 |
12-5952448-C-T |
c.8058G>A |
p.W2686* |
Nonsense |
49/52 |
- |
5 |
12-5952449-C-A |
c.8057G>T |
p.W2686L |
Missense |
49/52 |
- |
1 |
12-5952451-GA-G |
c.8054del |
p.F2685Sfs*25 |
Frameshift |
49/52 |
- |
1 |
12-5952453-A-T |
c.8053T>A |
p.F2685I |
Missense |
49/52 |
- |
2 |
12-5952458-T-C |
c.8048A>G |
p.E2683G |
Missense |
49/52 |
- |
1 |
12-5952460-T-C |
c.8046A>G |
p.G2682= |
Synonymous |
49/52 |
- |
1 |
12-5952461-C-A |
c.8045G>T |
p.G2682V |
Missense |
49/52 |
- |
1 |
12-5952464-C-T |
c.8042G>A |
p.R2681K |
Missense |
49/52 |
- |
1 |
12-5952465-T-TA |
c.8040_8041insT |
p.R2681* |
Nonsense |
49/52 |
- |
1 |
12-5952466-C-A |
c.8040G>T |
p.E2680D |
Missense |
49/52 |
- |
2 |
12-5952461-CCT-C |
c.8043_8044del |
p.G2682Rfs*15 |
Frameshift |
49/52 |
- |
1 |
12-5952468-C-A |
c.8038G>T |
p.E2680* |
Nonsense |
49/52 |
- |
1 |
12-5952468-C-T |
c.8038G>A |
p.E2680K |
Missense |
49/52 |
- |
1 |
12-5952470-T-C |
c.8036A>G |
p.N2679S |
Missense |
49/52 |
- |
2 |
12-5952471-T-C |
c.8035A>G |
p.N2679D |
Missense |
49/52 |
- |
1 |
12-5952473-A-G |
c.8033T>C |
p.V2678A |
Missense |
49/52 |
- |
1 |
12-5952474-C-T |
c.8032G>A |
p.V2678I |
Missense |
49/52 |
- |
6 |
12-5952475-C-T |
c.8031G>A |
p.K2677= |
Synonymous |
49/52 |
- |
1 |
12-5952478-G-T |
c.8028C>A |
p.C2676* |
Nonsense |
49/52 |
- |
1 |
12-5952479-C-A |
c.8027G>T |
p.C2676F |
Missense |
49/52 |
- |
1 |
12-5952481-G-A |
c.8025C>T |
p.F2675= |
Synonymous |
49/52 |
- |
1 |
12-5952486-G-T |
c.8020C>A |
p.H2674N |
Missense |
49/52 |
- |
1 |
12-5952488-G-A |
c.8018C>T |
p.T2673I |
Missense |
49/52 |
- |
1 |
12-5952494-C-T |
c.8012G>A |
p.C2671Y |
Missense |
49/52 |
- |
4 |
12-5952498-C-T |
c.8008G>A |
p.G2670S |
Missense |
49/52 |
- |
1 |
12-5952500-T-C |
c.8006A>G |
p.D2669G |
Missense |
49/52 |
- |
1 |
12-5952501-C-T |
c.8005G>A |
p.D2669N |
Missense |
49/52 |
- |
3 |
12-5952502-C-T |
c.8004G>A |
p.Q2668= |
Synonymous |
49/52 |
- |
2 |
12-5952508-C-A |
c.7998G>T |
p.T2666= |
Synonymous |
49/52 |
- |
2 |
12-5952508-C-G |
c.7998G>C |
p.T2666= |
Synonymous |
49/52 |
- |
1 |
12-5952508-C-T |
c.7998G>A |
p.T2666= |
Synonymous |
49/52 |
- |
2 |
12-5952509-G-A |
c.7997C>T |
p.T2666M |
Missense |
49/52 |
- |
6 |
12-5952510-T-C |
c.7996A>G |
p.T2666A |
Missense |
49/52 |
- |
3 |
12-5952515-T-G |
c.7991A>C |
p.D2664A |
Missense |
49/52 |
- |
1 |
12-5952517-A-G |
c.7989T>C |
p.R2663= |
Synonymous |
49/52 |
- |
1 |
12-5952518-C-A |
c.7988G>T |
p.R2663L |
Missense |
49/52 |
- |
1 |
12-5952518-C-G |
c.7988G>C |
p.R2663P |
Missense |
49/52 |
- |
6 |
12-5952519-G-A |
c.7987C>T |
p.R2663C |
Missense |
49/52 |
- |
2 |
12-5952781-T-C |
c.7987-262A>G |
- |
IntronicSNV |
- |
48/51 |
2 |
12-5952816-C-T |
c.7987-297G>A |
- |
IntronicSNV |
- |
48/51 |
1 |
12-5953181-C-T |
c.7986+315G>A |
- |
IntronicSNV |
- |
48/51 |
1 |
12-5953213-A-G |
c.7986+283T>C |
- |
IntronicSNV |
- |
48/51 |
1 |
12-5953495-C-G |
c.7986+1G>C |
- |
IntronicSNV |
- |
48/51 |
1 |
12-5953497-T-C |
c.7985A>G |
p.K2662R |
Missense |
48/52 |
- |
1 |
12-5953498-T-C |
c.7984A>G |
p.K2662E |
Missense |
48/52 |
- |
1 |
12-5953499-C-T |
c.7983G>A |
p.L2661= |
Synonymous |
48/52 |
- |
1 |
12-5953501-G-T |
c.7981C>A |
p.L2661M |
Missense |
48/52 |
- |
1 |
12-5953515-C-G |
c.7967G>C |
p.G2656A |
Missense |
48/52 |
- |
1 |
12-5953516-C-G |
c.7966G>C |
p.G2656R |
Missense |
48/52 |
- |
1 |
12-5953516-C-T |
c.7966G>A |
p.G2656R |
Missense |
48/52 |
- |
2 |
12-5953513-GTCC-G |
c.7966_7968del |
p.G2656del |
InFrameDeletion |
48/52 |
- |
1 |
12-5953519-C-T |
c.7963G>A |
p.G2655R |
Missense |
48/52 |
- |
1 |
12-5953521-C-T |
c.7961G>A |
p.R2654K |
Missense |
48/52 |
- |
2 |
12-5953524-A-C |
c.7958T>G |
p.L2653R |
Missense |
48/52 |
- |
2 |
12-5953526-C-T |
c.7956G>A |
p.Q2652= |
Synonymous |
48/52 |
- |
1 |
12-5953531-T-C |
c.7951A>G |
p.I2651V |
Missense |
48/52 |
- |
1 |
12-5953539-G-A |
c.7943C>T |
p.A2648V |
Missense |
48/52 |
- |
1 |
12-5953540-C-T |
c.7942G>A |
p.A2648T |
Missense |
48/52 |
- |
2 |
12-5953541-C-A |
c.7941G>T |
p.T2647= |
Synonymous |
48/52 |
- |
1 |
12-5953541-C-G |
c.7941G>C |
p.T2647= |
Synonymous |
48/52 |
- |
1 |
12-5953541-C-T |
c.7941G>A |
p.T2647= |
Synonymous |
48/52 |
- |
1 |
12-5953542-G-A |
c.7940C>T |
p.T2647M |
Missense |
48/52 |
- |
16 |
12-5953546-G-A |
c.7936C>T |
p.P2646S |
Missense |
48/52 |
- |
1 |
12-5953546-G-T |
c.7936C>A |
p.P2646T |
Missense |
48/52 |
- |
1 |
12-5953549-A-C |
c.7933T>G |
p.L2645V |
Missense |
48/52 |
- |
1 |
12-5953551-CA-GT |
c.7930_7931delinsAC |
p.C2644T |
Missense |
48/52 |
- |
1 |
12-5953552-A-G |
c.7930T>C |
p.C2644R |
Missense |
48/52 |
- |
3 |
12-5953557-C-A |
c.7925G>T |
p.G2642V |
Missense |
48/52 |
- |
1 |
12-5953564-A-C |
c.7918T>G |
p.C2640G |
Missense |
48/52 |
- |
2 |
12-5953567-C-T |
c.7915G>A |
p.E2639K |
Missense |
48/52 |
- |
3 |
12-5953569-C-G |
c.7913G>C |
p.G2638A |
Missense |
48/52 |
- |
1 |
12-5953570-C-A |
c.7912G>T |
p.G2638C |
Missense |
48/52 |
- |
4 |
12-5953574-GT-G |
c.7907del |
p.N2636Tfs*18 |
Frameshift |
48/52 |
- |
1 |
12-5953576-T-A |
c.7906A>T |
p.N2636Y |
Missense |
48/52 |
- |
1 |
12-5953577-A-C |
c.7905T>G |
p.N2635K |
Missense |
48/52 |
- |
4 |
12-5953577-A-G |
c.7905T>C |
p.N2635= |
Synonymous |
48/52 |
- |
2 |
12-5953577-A-T |
c.7905T>A |
p.N2635K |
Missense |
48/52 |
- |
2 |
12-5953585-C-T |
c.7897G>A |
p.E2633K |
Missense |
48/52 |
- |
8 |
12-5953593-C-T |
c.7889G>A |
p.G2630D |
Missense |
48/52 |
- |
1 |
12-5953611-A-G |
c.7888-17T>C |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5953687-C-T |
c.7888-93G>A |
- |
IntronicSNV |
- |
47/51 |
4 |
12-5953712-G-A |
c.7888-118C>T |
- |
IntronicSNV |
- |
47/51 |
6 |
12-5953723-A-G |
c.7888-129T>C |
- |
IntronicSNV |
- |
47/51 |
2 |
12-5953728-A-G |
c.7888-134T>C |
- |
IntronicSNV |
- |
47/51 |
2 |
12-5953817-T-A |
c.7888-223A>T |
- |
IntronicSNV |
- |
47/51 |
4 |
12-5953976-C-T |
c.7888-382G>A |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5954739-G-A |
c.7888-1145C>T |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5961679-A-G |
c.7887+5807T>C |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5962350-T-C |
c.7887+5136A>G |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5962777-T-C |
c.7887+4709A>G |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5964354-T-A |
c.7887+3132A>T |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5964354-T-G |
c.7887+3132A>C |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5964850-A-G |
c.7887+2636T>C |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5965306-C-A |
c.7887+2180G>T |
- |
IntronicSNV |
- |
47/51 |
8 |
12-5965327-G-A |
c.7887+2159C>T |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5965484-C-T |
c.7887+2002G>A |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5966686-A-G |
c.7887+800T>C |
- |
IntronicSNV |
- |
47/51 |
1 |
12-5967484-A-C |
c.7887+2T>G |
- |
IntronicSNV |
- |
47/51 |
2 |
12-5967484-A-T |
c.7887+2T>A |
- |
IntronicSNV |
- |
47/51 |
3 |
12-5967487-A-G |
c.7886T>C |
p.L2629P |
Missense |
47/52 |
- |
1 |
12-5967488-G-A |
c.7885C>T |
p.L2629= |
Synonymous |
47/52 |
- |
1 |
12-5967488-G-C |
c.7885C>G |
p.L2629V |
Missense |
47/52 |
- |
1 |
12-5967490-G-A |
c.7883C>T |
p.P2628L |
Missense |
47/52 |
- |
7 |
12-5967487-A-AG |
c.7885dup |
p.L2629Pfs*8 |
SpliceDonorInsertion |
47/52 |
- |
1 |
12-5967493-C-T |
c.7880G>A |
p.C2627Y |
Missense |
47/52 |
- |
1 |
12-5967505-G-C |
c.7868C>G |
p.T2623S |
Missense |
47/52 |
- |
1 |
12-5967510-TC-T |
c.7863del |
p.T2622Pfs*32 |
Frameshift |
47/52 |
- |
1 |
12-5967513-C-T |
c.7860G>A |
p.R2620= |
Synonymous |
47/52 |
- |
4 |
12-5967514-C-T |
c.7859G>A |
p.R2620K |
Missense |
47/52 |
- |
1 |
12-5967517-C-T |
c.7856G>A |
p.C2619Y |
Missense |
47/52 |
- |
1 |
12-5967523-A-G |
c.7850T>C |
p.L2617P |
Missense |
47/52 |
- |
1 |
12-5967524-G-A |
c.7849C>T |
p.L2617= |
Synonymous |
47/52 |
- |
1 |
12-5967524-G-T |
c.7849C>A |
p.L2617M |
Missense |
47/52 |
- |
1 |
12-5967528-G-C |
c.7845C>G |
p.F2615L |
Missense |
47/52 |
- |
1 |
12-5967528-G-T |
c.7845C>A |
p.F2615L |
Missense |
47/52 |
- |
1 |
12-5967530-A-G |
c.7843T>C |
p.F2615L |
Missense |
47/52 |
- |
1 |
12-5967532-C-T |
c.7841G>A |
p.G2614E |
Missense |
47/52 |
- |
4 |
12-5967540-G-A |
c.7833C>T |
p.V2611= |
Synonymous |
47/52 |
- |
1 |
12-5967543-C-A |
c.7830G>T |
p.G2610= |
Synonymous |
47/52 |
- |
3 |
12-5967543-C-G |
c.7830G>C |
p.G2610= |
Synonymous |
47/52 |
- |
2 |
12-5967543-C-T |
c.7830G>A |
p.G2610= |
Synonymous |
47/52 |
- |
2 |
12-5967547-A-C |
c.7826T>G |
p.V2609G |
Missense |
47/52 |
- |
1 |
12-5967548-C-T |
c.7825G>A |
p.V2609M |
Missense |
47/52 |
- |
1 |
12-5967550-T-C |
c.7823A>G |
p.Q2608R |
Missense |
47/52 |
- |
1 |
12-5967551-G-A |
c.7822C>T |
p.Q2608* |
Nonsense |
47/52 |
- |
1 |
12-5967554-C-T |
c.7819G>A |
p.V2607M |
Missense |
47/52 |
- |
1 |
12-5967562-C-T |
c.7811G>A |
p.R2604H |
Missense |
47/52 |
- |
1 |
12-5967563-G-A |
c.7810C>T |
p.R2604C |
Missense |
47/52 |
- |
2 |
12-5967564-G-A |
c.7809C>T |
p.C2603= |
Synonymous |
47/52 |
- |
4 |
12-5967567-G-A |
c.7806C>T |
p.T2602= |
Synonymous |
47/52 |
- |
1 |
12-5967567-G-C |
c.7806C>G |
p.T2602= |
Synonymous |
47/52 |
- |
1 |
12-5967567-G-T |
c.7806C>A |
p.T2602= |
Synonymous |
47/52 |
- |
1 |
12-5967568-G-A |
c.7805C>T |
p.T2602I |
Missense |
47/52 |
- |
1 |
12-5967571-G-A |
c.7802C>T |
p.T2601M |
Missense |
47/52 |
- |
2 |
12-5967573-G-A |
c.7800C>T |
p.C2600= |
Synonymous |
47/52 |
- |
1 |
12-5967576-CAC-AAA |
c.7795_7797delinsTTT |
p.V2599F |
Missense |
47/52 |
- |
1 |
12-5967578-C-A |
c.7795G>T |
p.V2599L |
Missense |
47/52 |
- |
1 |
12-5967581-C-T |
c.7792G>A |
p.D2598N |
Missense |
47/52 |
- |
4 |
12-5967582-G-A |
c.7791C>T |
p.I2597= |
Synonymous |
47/52 |
- |
2 |
12-5967582-G-T |
c.7791C>A |
p.I2597= |
Synonymous |
47/52 |
- |
1 |
12-5967592-GTCT-G |
c.7778_7780del |
p.K2593del |
InFrameDeletion |
47/52 |
- |
1 |
12-5967596-T-C |
c.7777A>G |
p.K2593E |
Missense |
47/52 |
- |
1 |
12-5967597-C-A |
c.7776G>T |
p.G2592= |
Synonymous |
47/52 |
- |
1 |
12-5967597-C-G |
c.7776G>C |
p.G2592= |
Synonymous |
47/52 |
- |
1 |
12-5967597-C-T |
c.7776G>A |
p.G2592= |
Synonymous |
47/52 |
- |
3 |
12-5967596-TCC-T |
c.7775_7776del |
p.G2592Efs*44 |
Frameshift |
47/52 |
- |
1 |
12-5967598-C-T |
c.7775G>A |
p.G2592E |
Missense |
47/52 |
- |
2 |
12-5967599-C-G |
c.7774G>C |
p.G2592R |
Missense |
47/52 |
- |
2 |
12-5967599-C-T |
c.7774G>A |
p.G2592R |
Missense |
47/52 |
- |
6 |
12-5967600-G-A |
c.7773C>T |
p.P2591= |
Synonymous |
47/52 |
- |
1 |
12-5967601-G-A |
c.7772C>T |
p.P2591L |
Missense |
47/52 |
- |
1 |
12-5967615-G-A |
c.7771-13C>T |
- |
IntronicSNV |
- |
46/51 |
4 |
12-5967775-A-G |
c.7771-173T>C |
- |
IntronicSNV |
- |
46/51 |
4 |
12-5968050-A-G |
c.7770+77T>C |
- |
IntronicSNV |
- |
46/51 |
2 |
12-5968100-G-A |
c.7770+27C>T |
- |
IntronicSNV |
- |
46/51 |
1 |
12-5968119-C-T |
c.7770+8G>A |
- |
IntronicSNV |
- |
46/51 |
1 |
12-5968126-C-T |
c.7770+1G>A |
- |
IntronicSNV |
- |
46/51 |
1 |
12-5968127-C-A |
c.7770G>T |
p.G2590= |
Synonymous |
46/52 |
- |
1 |
12-5968127-C-G |
c.7770G>C |
p.G2590= |
Synonymous |
46/52 |
- |
1 |
12-5968127-C-T |
c.7770G>A |
p.G2590= |
Synonymous |
46/52 |
- |
1 |
12-5968131-A-G |
c.7766T>C |
p.I2589T |
Missense |
46/52 |
- |
2 |
12-5968131-A-T |
c.7766T>A |
p.I2589N |
Missense |
46/52 |
- |
1 |
12-5968134-A-G |
c.7763T>C |
p.V2588A |
Missense |
46/52 |
- |
1 |
12-5968137-G-C |
c.7760C>G |
p.T2587S |
Missense |
46/52 |
- |
1 |
12-5968138-T-A |
c.7759A>T |
p.T2587S |
Missense |
46/52 |
- |
1 |
12-5968145-G-A |
c.7752C>T |
p.L2584= |
Synonymous |
46/52 |
- |
1 |
12-5968145-G-C |
c.7752C>G |
p.L2584= |
Synonymous |
46/52 |
- |
1 |
12-5968145-G-T |
c.7752C>A |
p.L2584= |
Synonymous |
46/52 |
- |
1 |
12-5968155-G-A |
c.7742C>T |
p.A2581V |
Missense |
46/52 |
- |
1 |
12-5968157-C-A |
c.7740G>T |
p.E2580D |
Missense |
46/52 |
- |
1 |
12-5968160-C-A |
c.7737G>T |
p.M2579I |
Missense |
46/52 |
- |
2 |
12-5968160-C-G |
c.7737G>C |
p.M2579I |
Missense |
46/52 |
- |
2 |
12-5968160-C-T |
c.7737G>A |
p.M2579I |
Missense |
46/52 |
- |
3 |
12-5968162-T-C |
c.7735A>G |
p.M2579V |
Missense |
46/52 |
- |
1 |
12-5968164-C-T |
c.7733G>A |
p.R2578H |
Missense |
46/52 |
- |
2 |
12-5968165-G-A |
c.7732C>T |
p.R2578C |
Missense |
46/52 |
- |
5 |
12-5968165-G-C |
c.7732C>G |
p.R2578G |
Missense |
46/52 |
- |
4 |
12-5968168-C-G |
c.7730-1G>C |
- |
IntronicSNV |
- |
45/51 |
1 |
12-5968299-C-A |
c.7730-132G>T |
- |
IntronicSNV |
- |
45/51 |
1 |
12-5968299-C-G |
c.7730-132G>C |
- |
IntronicSNV |
- |
45/51 |
1 |
12-5968299-C-T |
c.7730-132G>A |
- |
IntronicSNV |
- |
45/51 |
1 |
12-5968959-T-A |
c.7729+252A>T |
- |
IntronicSNV |
- |
45/51 |
4 |
12-5969204-G-A |
c.7729+7C>T |
- |
IntronicSNV |
- |
45/51 |
1 |
12-5969210-CCACAG-C |
c.7725_7729del |
p.C2576Afs*59 |
SpliceDonorDeletion |
45/52 |
- |
1 |
12-5969213-CA-GT |
c.7726_7727delinsAC |
p.C2576T |
Missense |
45/52 |
- |
1 |
12-5969216-C-T |
c.7724G>A |
p.R2575H |
Missense |
45/52 |
- |
1 |
12-5969217-G-A |
c.7723C>T |
p.R2575C |
Missense |
45/52 |
- |
5 |
12-5969217-G-C |
c.7723C>G |
p.R2575G |
Missense |
45/52 |
- |
1 |
12-5969219-C-T |
c.7721G>A |
p.C2574Y |
Missense |
45/52 |
- |
1 |
12-5969221-G-C |
c.7719C>G |
p.S2573R |
Missense |
45/52 |
- |
1 |
12-5969221-G-T |
c.7719C>A |
p.S2573R |
Missense |
45/52 |
- |
1 |
12-5969223-T-G |
c.7717A>C |
p.S2573R |
Missense |
45/52 |
- |
1 |
12-5969228-C-A |
c.7712G>T |
p.C2571F |
Missense |
45/52 |
- |
1 |
12-5969228-C-T |
c.7712G>A |
p.C2571Y |
Missense |
45/52 |
- |
1 |
12-5969233-C-A |
c.7707G>T |
p.A2569= |
Synonymous |
45/52 |
- |
2 |
12-5969233-C-G |
c.7707G>C |
p.A2569= |
Synonymous |
45/52 |
- |
2 |
12-5969233-C-T |
c.7707G>A |
p.A2569= |
Synonymous |
45/52 |
- |
4 |
12-5969235-C-A |
c.7705G>T |
p.A2569S |
Missense |
45/52 |
- |
1 |
12-5969242-C-T |
c.7698G>A |
p.K2566= |
Synonymous |
45/52 |
- |
1 |
12-5969248-G-A |
c.7692C>T |
p.S2564= |
Synonymous |
45/52 |
- |
2 |
12-5969253-G-C |
c.7687C>G |
p.L2563V |
Missense |
45/52 |
- |
1 |
12-5969254-C-A |
c.7686G>T |
p.Q2562H |
Missense |
45/52 |
- |
1 |
12-5969254-C-G |
c.7686G>C |
p.Q2562H |
Missense |
45/52 |
- |
1 |
12-5969255-T-G |
c.7685A>C |
p.Q2562P |
Missense |
45/52 |
- |
2 |
12-5969258-A-T |
c.7682T>A |
p.F2561Y |
Missense |
45/52 |
- |
17 |
12-5969260-AGCCCGAGGGGCAGAC-A |
c.7666_7680del |
p.V2556_G2560del |
InFrameDeletion |
45/52 |
- |
1 |
12-5969261-C-A |
c.7679G>T |
p.G2560V |
Missense |
45/52 |
- |
1 |
12-5969261-C-G |
c.7679G>C |
p.G2560A |
Missense |
45/52 |
- |
1 |
12-5969260-GCCCGAGGGGCAGA-G |
c.7667_7679del |
p.V2556Afs*4 |
Frameshift |
45/52 |
- |
1 |
12-5969262-C-T |
c.7678G>A |
p.G2560S |
Missense |
45/52 |
- |
1 |
12-5969263-C-A |
c.7677G>T |
p.S2559= |
Synonymous |
45/52 |
- |
1 |
12-5969264-G-A |
c.7676C>T |
p.S2559L |
Missense |
45/52 |
- |
14 |
12-5969264-G-C |
c.7676C>G |
p.S2559W |
Missense |
45/52 |
- |
1 |
12-5969263-CGAGGG-C |
c.7672_7676del |
p.P2558Gfs*7 |
Frameshift |
45/52 |
- |
1 |
12-5969267-G-A |
c.7673C>T |
p.P2558L |
Missense |
45/52 |
- |
1 |
12-5969268-G-A |
c.7672C>T |
p.P2558S |
Missense |
45/52 |
- |
2 |
12-5969270-C-T |
c.7670G>A |
p.C2557Y |
Missense |
45/52 |
- |
1 |
12-5969270-C-G |
c.7670G>C |
p.C2557S |
Missense |
45/52 |
- |
1 |
12-5969271-A-T |
c.7669T>A |
p.C2557S |
Missense |
45/52 |
- |
1 |
12-5969274-C-T |
c.7666G>A |
p.V2556I |
Missense |
45/52 |
- |
3 |
12-5969275-A-ACT |
c.7664_7665insAG |
p.C2557Sfs*8 |
Frameshift |
45/52 |
- |
2 |
12-5969276-G-C |
c.7664C>G |
p.P2555R |
Missense |
45/52 |
- |
1 |
12-5969278-G-A |
c.7662C>T |
p.V2554= |
Synonymous |
45/52 |
- |
2 |
12-5969289-G-A |
c.7651C>T |
p.Q2551* |
Nonsense |
45/52 |
- |
1 |
12-5969289-G-T |
c.7651C>A |
p.Q2551K |
Missense |
45/52 |
- |
2 |
12-5969288-T-TG |
c.7651dup |
p.Q2551Pfs*16 |
Frameshift |
45/52 |
- |
1 |
12-5969297-G-A |
c.7643C>T |
p.S2548F |
Missense |
45/52 |
- |
1 |
12-5969297-G-C |
c.7643C>G |
p.S2548C |
Missense |
45/52 |
- |
1 |
12-5969301-C-T |
c.7639G>A |
p.V2547I |
Missense |
45/52 |
- |
1 |
12-5969304-T-A |
c.7636A>T |
p.N2546Y |
Missense |
45/52 |
- |
5 |
12-5969308-T-C |
c.7632A>G |
p.Q2544= |
Synonymous |
45/52 |
- |
1 |
12-5969309-T-C |
c.7631A>G |
p.Q2544R |
Missense |
45/52 |
- |
1 |
12-5969311-T-C |
c.7629A>G |
p.Q2543= |
Synonymous |
45/52 |
- |
2 |
12-5969313-G-A |
c.7627C>T |
p.Q2543* |
Nonsense |
45/52 |
- |
1 |
12-5969320-G-A |
c.7620C>T |
p.V2540= |
Synonymous |
45/52 |
- |
4 |
12-5969320-G-C |
c.7620C>G |
p.V2540= |
Synonymous |
45/52 |
- |
1 |
12-5969320-G-T |
c.7620C>A |
p.V2540= |
Synonymous |
45/52 |
- |
1 |
12-5969321-A-G |
c.7619T>C |
p.V2540A |
Missense |
45/52 |
- |
1 |
12-5969321-A-T |
c.7619T>A |
p.V2540D |
Missense |
45/52 |
- |
1 |
12-5969321-GACC-G |
c.7617_7619del |
p.E2539_V2540delinsD |
MultiAAMissense |
45/52 |
- |
1 |
12-5969321-AC-A |
c.7618del |
p.V2540Sfs*24 |
Frameshift |
45/52 |
- |
1 |
12-5969325-C-A |
c.7615G>T |
p.E2539* |
Nonsense |
45/52 |
- |
1 |
12-5969325-C-T |
c.7615G>A |
p.E2539K |
Missense |
45/52 |
- |
2 |
12-5969327-T-A |
c.7613A>T |
p.E2538V |
Missense |
45/52 |
- |
1 |
12-5969336-C-G |
c.7604G>C |
p.R2535P |
Missense |
45/52 |
- |
1 |
12-5969336-C-T |
c.7604G>A |
p.R2535Q |
Missense |
45/52 |
- |
4 |
12-5969337-G-A |
c.7603C>T |
p.R2535* |
Nonsense |
45/52 |
- |
18 |
12-5969341-A-C |
c.7599T>G |
p.C2533W |
Missense |
45/52 |
- |
1 |
12-5969341-A-T |
c.7599T>A |
p.C2533* |
Nonsense |
45/52 |
- |
1 |
12-5969343-A-C |
c.7597T>G |
p.C2533G |
Missense |
45/52 |
- |
1 |
12-5969347-A-C |
c.7593T>G |
p.N2531K |
Missense |
45/52 |
- |
1 |
12-5969347-A-T |
c.7593T>A |
p.N2531K |
Missense |
45/52 |
- |
1 |
12-5969357-C-T |
c.7583G>A |
p.C2528Y |
Missense |
45/52 |
- |
1 |
12-5969360-G-A |
c.7580C>T |
p.P2527L |
Missense |
45/52 |
- |
3 |
12-5969361-G-A |
c.7579C>T |
p.P2527S |
Missense |
45/52 |
- |
1 |
12-5969362-G-C |
c.7578C>G |
p.N2526K |
Missense |
45/52 |
- |
5 |
12-5969362-G-T |
c.7578C>A |
p.N2526K |
Missense |
45/52 |
- |
7 |
12-5969358-AGGGGTTCTCC-A |
c.7572_7581del |
p.E2525Afs*9 |
Frameshift |
45/52 |
- |
1 |
12-5969361-GGTTCTCCGGGGA-G |
c.7567_7578del |
p.S2523_N2526del |
InFrameDeletion |
45/52 |
- |
1 |
12-5969367-C-CA |
c.7572_7573insT |
p.E2525* |
Nonsense |
45/52 |
- |
2 |
12-5969368-C-A |
c.7572G>T |
p.P2524= |
Synonymous |
45/52 |
- |
2 |
12-5969368-C-G |
c.7572G>C |
p.P2524= |
Synonymous |
45/52 |
- |
2 |
12-5969368-C-T |
c.7572G>A |
p.P2524= |
Synonymous |
45/52 |
- |
6 |
12-5969369-G-A |
c.7571C>T |
p.P2524L |
Missense |
45/52 |
- |
3 |
12-5969370-G-A |
c.7570C>T |
p.P2524S |
Missense |
45/52 |
- |
1 |
12-5969368-C-CG |
c.7571dup |
p.E2525Gfs*8 |
Frameshift |
45/52 |
- |
2 |
12-5969376-C-A |
c.7564G>T |
p.A2522S |
Missense |
45/52 |
- |
1 |
12-5969376-C-T |
c.7564G>A |
p.A2522T |
Missense |
45/52 |
- |
1 |
12-5969382-G-A |
c.7558C>T |
p.Q2520* |
Nonsense |
45/52 |
- |
1 |
12-5969383-G-A |
c.7557C>T |
p.S2519= |
Synonymous |
45/52 |
- |
1 |
12-5969384-G-A |
c.7556C>T |
p.S2519F |
Missense |
45/52 |
- |
1 |
12-5969388-C-T |
c.7552G>A |
p.G2518S |
Missense |
45/52 |
- |
1 |
12-5969389-G-A |
c.7551C>T |
p.V2517= |
Synonymous |
45/52 |
- |
5 |
12-5969389-G-C |
c.7551C>G |
p.V2517= |
Synonymous |
45/52 |
- |
4 |
12-5969389-G-T |
c.7551C>A |
p.V2517= |
Synonymous |
45/52 |
- |
3 |
12-5969391-C-A |
c.7549G>T |
p.V2517F |
Missense |
45/52 |
- |
1 |
12-5969450-T-C |
c.7549-59A>G |
- |
IntronicSNV |
- |
44/51 |
7 |
12-5969450-T-G |
c.7549-59A>C |
- |
IntronicSNV |
- |
44/51 |
7 |
12-5969892-C-T |
c.7549-501G>A |
- |
IntronicSNV |
- |
44/51 |
1 |
12-5971124-G-A |
c.7548+475C>T |
- |
IntronicSNV |
- |
44/51 |
1 |
12-5971411-G-C |
c.7548+188C>G |
- |
IntronicSNV |
- |
44/51 |
1 |
12-5971577-C-T |
c.7548+22G>A |
- |
IntronicSNV |
- |
44/51 |
1 |
12-5971598-C-A |
c.7548+1G>T |
- |
IntronicSNV |
- |
44/51 |
1 |
12-5971605-C-T |
c.7542G>A |
p.W2514* |
Nonsense |
44/52 |
- |
4 |
12-5971606-C-T |
c.7541G>A |
p.W2514* |
Nonsense |
44/52 |
- |
2 |
12-5971609-G-A |
c.7538C>T |
p.S2513F |
Missense |
44/52 |
- |
6 |
12-5971611-A-C |
c.7536T>G |
p.S2512= |
Synonymous |
44/52 |
- |
1 |
12-5971611-A-G |
c.7536T>C |
p.S2512= |
Synonymous |
44/52 |
- |
1 |
12-5971611-A-T |
c.7536T>A |
p.S2512= |
Synonymous |
44/52 |
- |
1 |
12-5971612-G-A |
c.7535C>T |
p.S2512F |
Missense |
44/52 |
- |
1 |
12-5971612-G-T |
c.7535C>A |
p.S2512Y |
Missense |
44/52 |
- |
3 |
12-5971616-G-T |
c.7531C>A |
p.Q2511K |
Missense |
44/52 |
- |
1 |
12-5971617-G-A |
c.7530C>T |
p.S2510= |
Synonymous |
44/52 |
- |
1 |
12-5971618-G-A |
c.7529C>T |
p.S2510F |
Missense |
44/52 |
- |
6 |
12-5971620-G-C |
c.7527C>G |
p.D2509E |
Missense |
44/52 |
- |
4 |
12-5971620-G-T |
c.7527C>A |
p.D2509E |
Missense |
44/52 |
- |
4 |
12-5971621-T-C |
c.7526A>G |
p.D2509G |
Missense |
44/52 |
- |
1 |
12-5971621-T-G |
c.7526A>C |
p.D2509A |
Missense |
44/52 |
- |
1 |
12-5971622-C-A |
c.7525G>T |
p.D2509Y |
Missense |
44/52 |
- |
1 |
12-5971622-C-T |
c.7525G>A |
p.D2509N |
Missense |
44/52 |
- |
1 |
12-5971624-C-A |
c.7523G>T |
p.G2508V |
Missense |
44/52 |
- |
2 |
12-5971621-TCC-T |
c.7524_7525del |
p.D2509Lfs*23 |
Frameshift |
44/52 |
- |
1 |
12-5971621-TC-T |
c.7525del |
p.D2509Tfs*28 |
Frameshift |
44/52 |
- |
2 |
12-5971621-T-TC |
c.7525dup |
p.D2509Gfs*24 |
Frameshift |
44/52 |
- |
4 |
12-5971627-CG-GC |
c.7519_7520delinsGC |
p.R2507A |
Missense |
44/52 |
- |
1 |
12-5971627-CG-TC |
c.7519_7520delinsGA |
p.R2507E |
Missense |
44/52 |
- |
1 |
12-5971627-C-T |
c.7520G>A |
p.R2507Q |
Missense |
44/52 |
- |
1 |
12-5971628-G-A |
c.7519C>T |
p.R2507W |
Missense |
44/52 |
- |
7 |
12-5971628-G-T |
c.7519C>A |
p.R2507= |
Synonymous |
44/52 |
- |
1 |
12-5971629-C-T |
c.7518G>A |
p.P2506= |
Synonymous |
44/52 |
- |
1 |
12-5971630-G-A |
c.7517C>T |
p.P2506L |
Missense |
44/52 |
- |
1 |
12-5971631-G-A |
c.7516C>T |
p.P2506S |
Missense |
44/52 |
- |
3 |
12-5971645-A-G |
c.7502T>C |
p.V2501A |
Missense |
44/52 |
- |
1 |
12-5971646-C-T |
c.7501G>A |
p.V2501M |
Missense |
44/52 |
- |
2 |
12-5971654-G-T |
c.7493C>A |
p.A2498D |
Missense |
44/52 |
- |
4 |
12-5971658-A-G |
c.7489T>C |
p.S2497P |
Missense |
44/52 |
- |
1 |
12-5971661-G-T |
c.7486C>A |
p.P2496T |
Missense |
44/52 |
- |
1 |
12-5971665-G-A |
c.7482C>T |
p.C2494= |
Synonymous |
44/52 |
- |
1 |
12-5971667-A-C |
c.7480T>G |
p.C2494G |
Missense |
44/52 |
- |
1 |
12-5971668-C-A |
c.7479G>T |
p.R2493S |
Missense |
44/52 |
- |
3 |
12-5971668-C-G |
c.7479G>C |
p.R2493S |
Missense |
44/52 |
- |
2 |
12-5971672-CC-GT |
c.7474_7475delinsAC |
p.G2492T |
Missense |
44/52 |
- |
1 |
12-5971676-A-G |
c.7471T>C |
p.C2491R |
Missense |
44/52 |
- |
2 |
12-5971679-A-G |
c.7468T>C |
p.C2490R |
Missense |
44/52 |
- |
1 |
12-5971682-C-T |
c.7465G>A |
p.E2489K |
Missense |
44/52 |
- |
1 |
12-5971683-G-A |
c.7464C>T |
p.G2488= |
Synonymous |
44/52 |
- |
9 |
12-5971685-C-A |
c.7462G>T |
p.G2488C |
Missense |
44/52 |
- |
1 |
12-5971685-C-G |
c.7462G>C |
p.G2488R |
Missense |
44/52 |
- |
1 |
12-5971688-C-T |
c.7459G>A |
p.E2487K |
Missense |
44/52 |
- |
1 |
12-5971697-C-T |
c.7450G>A |
p.V2484I |
Missense |
44/52 |
- |
2 |
12-5971698-G-A |
c.7449C>T |
p.Y2483= |
Synonymous |
44/52 |
- |
2 |
12-5971698-G-GT |
c.7448dup |
p.Y2483* |
Nonsense |
44/52 |
- |
1 |
12-5971709-C-G |
c.7438G>C |
p.G2480R |
Missense |
44/52 |
- |
6 |
12-5972658-G-A |
c.7438-949C>T |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5972772-C-T |
c.7438-1063G>A |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5972947-A-G |
c.7438-1238T>C |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5973392-A-T |
c.7438-1683T>A |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5973633-A-G |
c.7438-1924T>C |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5974260-G-T |
c.7437+1851C>A |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5975025-G-C |
c.7437+1086C>G |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5975025-G-T |
c.7437+1086C>A |
- |
IntronicSNV |
- |
43/51 |
2 |
12-5975157-A-G |
c.7437+954T>C |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5975698-T-A |
c.7437+413A>T |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5975698-T-C |
c.7437+413A>G |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5976015-C-CA |
c.7437+95dup |
- |
IntronicInsertion |
- |
43/51 |
1 |
12-5976110-C-T |
c.7437+1G>A |
- |
IntronicSNV |
- |
43/51 |
1 |
12-5976111-C-T |
c.7437G>A |
p.S2479= |
Synonymous |
43/52 |
- |
6 |
12-5976113-A-C |
c.7435T>G |
p.S2479A |
Missense |
43/52 |
- |
2 |
12-5976115-C-T |
c.7433G>A |
p.R2478Q |
Missense |
43/52 |
- |
6 |
12-5976116-G-A |
c.7432C>T |
p.R2478W |
Missense |
43/52 |
- |
6 |
12-5976118-C-G |
c.7430G>C |
p.C2477S |
Missense |
43/52 |
- |
3 |
12-5976118-C-T |
c.7430G>A |
p.C2477Y |
Missense |
43/52 |
- |
1 |
12-5976119-A-T |
c.7429T>A |
p.C2477S |
Missense |
43/52 |
- |
2 |
12-5976123-G-A |
c.7425C>T |
p.D2475= |
Synonymous |
43/52 |
- |
1 |
12-5976124-T-C |
c.7424A>G |
p.D2475G |
Missense |
43/52 |
- |
1 |
12-5976129-A-C |
c.7419T>G |
p.C2473W |
Missense |
43/52 |
- |
1 |
12-5976130-C-T |
c.7418G>A |
p.C2473Y |
Missense |
43/52 |
- |
1 |
12-5976136-T-A |
c.7412A>T |
p.K2471M |
Missense |
43/52 |
- |
1 |
12-5976140-G-A |
c.7408C>T |
p.Q2470* |
Nonsense |
43/52 |
- |
9 |
12-5976142-G-A |
c.7406C>T |
p.S2469F |
Missense |
43/52 |
- |
4 |
12-5976143-A-G |
c.7405T>C |
p.S2469P |
Missense |
43/52 |
- |
1 |
12-5976145-C-G |
c.7403G>C |
p.C2468S |
Missense |
43/52 |
- |
1 |
12-5976149-G-A |
c.7399C>T |
p.Q2467* |
Nonsense |
43/52 |
- |
2 |
12-5976151-G-C |
c.7397C>G |
p.A2466G |
Missense |
43/52 |
- |
1 |
12-5976155-C-T |
c.7393G>A |
p.V2465M |
Missense |
43/52 |
- |
2 |
12-5976156-GCG-CCA |
c.7390_7392delinsTGG |
p.R2464W |
Missense |
43/52 |
- |
1 |
12-5976157-C-T |
c.7391G>A |
p.R2464H |
Missense |
43/52 |
- |
7 |
12-5976158-G-A |
c.7390C>T |
p.R2464C |
Missense |
43/52 |
- |
16 |
12-5976159-G-A |
c.7389C>T |
p.L2463= |
Synonymous |
43/52 |
- |
1 |
12-5976161-G-A |
c.7387C>T |
p.L2463F |
Missense |
43/52 |
- |
3 |
12-5976165-C-A |
c.7383G>T |
p.M2461I |
Missense |
43/52 |
- |
1 |
12-5976165-C-G |
c.7383G>C |
p.M2461I |
Missense |
43/52 |
- |
1 |
12-5976165-C-T |
c.7383G>A |
p.M2461I |
Missense |
43/52 |
- |
3 |
12-5976170-C-T |
c.7378G>A |
p.V2460M |
Missense |
43/52 |
- |
2 |
12-5976171-G-A |
c.7377C>T |
p.A2459= |
Synonymous |
43/52 |
- |
1 |
12-5976171-G-C |
c.7377C>G |
p.A2459= |
Synonymous |
43/52 |
- |
1 |
12-5976171-G-T |
c.7377C>A |
p.A2459= |
Synonymous |
43/52 |
- |
1 |
12-5976172-G-A |
c.7376C>T |
p.A2459V |
Missense |
43/52 |
- |
3 |
12-5976172-G-T |
c.7376C>A |
p.A2459D |
Missense |
43/52 |
- |
1 |
12-5976171-GGCATCCTCCATGTCGGT-G |
c.7360_7376del |
p.T2454Rfs*15 |
Frameshift |
43/52 |
- |
1 |
12-5976176-C-T |
c.7372G>A |
p.D2458N |
Missense |
43/52 |
- |
8 |
12-5976181-A-G |
c.7367T>C |
p.M2456T |
Missense |
43/52 |
- |
1 |
12-5976185-C-T |
c.7363G>A |
p.D2455N |
Missense |
43/52 |
- |
3 |
12-5976186-G-A |
c.7362C>T |
p.T2454= |
Synonymous |
43/52 |
- |
4 |
12-5976186-G-C |
c.7362C>G |
p.T2454= |
Synonymous |
43/52 |
- |
1 |
12-5976186-G-T |
c.7362C>A |
p.T2454= |
Synonymous |
43/52 |
- |
1 |
12-5976187-G-A |
c.7361C>T |
p.T2454I |
Missense |
43/52 |
- |
2 |
12-5976187-G-C |
c.7361C>G |
p.T2454S |
Missense |
43/52 |
- |
1 |
12-5976187-G-T |
c.7361C>A |
p.T2454N |
Missense |
43/52 |
- |
2 |
12-5976189-G-T |
c.7359C>A |
p.C2453* |
Nonsense |
43/52 |
- |
2 |
12-5976193-G-C |
c.7355C>G |
p.T2452S |
Missense |
43/52 |
- |
1 |
12-5976196-C-T |
c.7352G>A |
p.C2451Y |
Missense |
43/52 |
- |
3 |
12-5976203-C-T |
c.7345G>A |
p.D2449N |
Missense |
43/52 |
- |
1 |
12-5976204-G-A |
c.7344C>T |
p.C2448= |
Synonymous |
43/52 |
- |
5 |
12-5976205-C-T |
c.7343G>A |
p.C2448Y |
Missense |
43/52 |
- |
1 |
12-5976208-C-G |
c.7340G>C |
p.G2447A |
Missense |
43/52 |
- |
1 |
12-5976213-C-A |
c.7335G>T |
p.E2445D |
Missense |
43/52 |
- |
3 |
12-5976215-C-T |
c.7333G>A |
p.E2445K |
Missense |
43/52 |
- |
6 |
12-5976216-C-T |
c.7332G>A |
p.W2444* |
Nonsense |
43/52 |
- |
1 |
12-5976217-C-A |
c.7331G>T |
p.W2444L |
Missense |
43/52 |
- |
3 |
12-5976222-C-A |
c.7326G>T |
p.Q2442H |
Missense |
43/52 |
- |
2 |
12-5976222-C-G |
c.7326G>C |
p.Q2442H |
Missense |
43/52 |
- |
1 |
12-5976222-C-T |
c.7326G>A |
p.Q2442= |
Synonymous |
43/52 |
- |
1 |
12-5976227-C-A |
c.7321G>T |
p.G2441C |
Missense |
43/52 |
- |
2 |
12-5976228-C-A |
c.7320G>T |
p.V2440= |
Synonymous |
43/52 |
- |
1 |
12-5976228-C-G |
c.7320G>C |
p.V2440= |
Synonymous |
43/52 |
- |
1 |
12-5976228-C-T |
c.7320G>A |
p.V2440= |
Synonymous |
43/52 |
- |
1 |
12-5976230-C-T |
c.7318G>A |
p.V2440M |
Missense |
43/52 |
- |
3 |
12-5976232-G-A |
c.7316C>T |
p.P2439L |
Missense |
43/52 |
- |
1 |
12-5976242-T-C |
c.7306A>G |
p.T2436A |
Missense |
43/52 |
- |
1 |
12-5976247-C-T |
c.7301G>A |
p.R2434Q |
Missense |
43/52 |
- |
1 |
12-5976248-G-A |
c.7300C>T |
p.R2434* |
Nonsense |
43/52 |
- |
5 |
12-5976248-G-C |
c.7300C>G |
p.R2434G |
Missense |
43/52 |
- |
2 |
12-5976250-T-G |
c.7298A>C |
p.H2433P |
Missense |
43/52 |
- |
1 |
12-5976256-C-T |
c.7292G>A |
p.C2431Y |
Missense |
43/52 |
- |
2 |
12-5976279-G-A |
c.7288-19C>T |
- |
IntronicSNV |
- |
42/51 |
8 |
12-5976279-G-C |
c.7288-19C>G |
- |
IntronicSNV |
- |
42/51 |
8 |
12-5976281-G-A |
c.7288-21C>T |
- |
IntronicSNV |
- |
42/51 |
7 |
12-5976347-A-G |
c.7288-87T>C |
- |
IntronicSNV |
- |
42/51 |
7 |
12-5977099-T-C |
c.7288-839A>G |
- |
IntronicSNV |
- |
42/51 |
3 |
12-5980742-ATTCCAGACAAATAAAGATCTGTTCCAGCCCTAACAGGCTCCAAGGAGAGATGACTGCAG-A |
c.7287+986_7287+1044del |
- |
Unclassified |
- |
42/51 |
1 |
12-5981137-T-C |
c.7287+649A>G |
- |
IntronicSNV |
- |
42/51 |
1 |
12-5981659-T-C |
c.7287+127A>G |
- |
IntronicSNV |
- |
42/51 |
4 |
12-5981726-G-A |
c.7287+60C>T |
- |
IntronicSNV |
- |
42/51 |
4 |
12-5981778-G-C |
c.7287+8C>G |
- |
IntronicSNV |
- |
42/51 |
1 |
12-5981785-ACC-A |
c.7287_7287+1del |
- |
SpliceDonorDeletion |
42/52 |
42/51 |
1 |
12-5981785-C-A |
c.7287+1G>T |
- |
IntronicSNV |
- |
42/51 |
1 |
12-5981786-C-T |
c.7287G>A |
p.K2429= |
Synonymous |
42/52 |
- |
1 |
12-5981789-G-T |
c.7284C>A |
p.D2428E |
Missense |
42/52 |
- |
1 |
12-5981791-C-T |
c.7282G>A |
p.D2428N |
Missense |
42/52 |
- |
1 |
12-5981792-G-A |
c.7281C>T |
p.P2427= |
Synonymous |
42/52 |
- |
1 |
12-5981792-G-T |
c.7281C>A |
p.P2427= |
Synonymous |
42/52 |
- |
2 |
12-5981793-G-A |
c.7280C>T |
p.P2427L |
Missense |
42/52 |
- |
1 |
12-5981800-A-C |
c.7273T>G |
p.C2425G |
Missense |
42/52 |
- |
1 |
12-5981809-T-C |
c.7264A>G |
p.T2422A |
Missense |
42/52 |
- |
1 |
12-5981819-A-G |
c.7254T>C |
p.C2418= |
Synonymous |
42/52 |
- |
1 |
12-5981820-C-T |
c.7253G>A |
p.C2418Y |
Missense |
42/52 |
- |
1 |
12-5981823-T-C |
c.7250A>G |
p.D2417G |
Missense |
42/52 |
- |
1 |
12-5981829-G-A |
c.7244C>T |
p.T2415I |
Missense |
42/52 |
- |
2 |
12-5981834-A-C |
c.7239T>G |
p.T2413= |
Synonymous |
42/52 |
- |
19 |
12-5981834-A-G |
c.7239T>C |
p.T2413= |
Synonymous |
42/52 |
- |
23 |
12-5981834-A-T |
c.7239T>A |
p.T2413= |
Synonymous |
42/52 |
- |
18 |
12-5981841-G-T |
c.7232C>A |
p.A2411D |
Missense |
42/52 |
- |
1 |
12-5981843-C-T |
c.7230G>A |
p.L2410= |
Synonymous |
42/52 |
- |
1 |
12-5981850-C-G |
c.7223G>C |
p.G2408A |
Missense |
42/52 |
- |
1 |
12-5981853-A-G |
c.7220T>C |
p.L2407P |
Missense |
42/52 |
- |
1 |
12-5981854-G-A |
c.7219C>T |
p.L2407F |
Missense |
42/52 |
- |
1 |
12-5981855-G-A |
c.7218C>T |
p.P2406= |
Synonymous |
42/52 |
- |
1 |
12-5981855-G-C |
c.7218C>G |
p.P2406= |
Synonymous |
42/52 |
- |
1 |
12-5981855-G-T |
c.7218C>A |
p.P2406= |
Synonymous |
42/52 |
- |
1 |
12-5981857-G-A |
c.7216C>T |
p.P2406S |
Missense |
42/52 |
- |
5 |
12-5981859-CA-GT |
c.7213_7214delinsAC |
p.C2405T |
Missense |
42/52 |
- |
1 |
12-5981864-C-A |
c.7209G>T |
p.V2403= |
Synonymous |
42/52 |
- |
1 |
12-5981864-C-G |
c.7209G>C |
p.V2403= |
Synonymous |
42/52 |
- |
1 |
12-5981864-C-T |
c.7209G>A |
p.V2403= |
Synonymous |
42/52 |
- |
1 |
12-5981865-A-C |
c.7208T>G |
p.V2403G |
Missense |
42/52 |
- |
1 |
12-5981865-A-G |
c.7208T>C |
p.V2403A |
Missense |
42/52 |
- |
1 |
12-5981866-C-T |
c.7207G>A |
p.V2403M |
Missense |
42/52 |
- |
1 |
12-5981869-T-C |
c.7204A>G |
p.T2402A |
Missense |
42/52 |
- |
1 |
12-5981872-A-C |
c.7201T>G |
p.S2401A |
Missense |
42/52 |
- |
1 |
12-5981873-GTT-TTG |
c.7198_7200delinsCAA |
p.N2400Q |
Missense |
42/52 |
- |
2 |
12-5981878-C-T |
c.7195G>A |
p.V2399I |
Missense |
42/52 |
- |
3 |
12-5981883-T-C |
c.7190A>G |
p.N2397S |
Missense |
42/52 |
- |
1 |
12-5981885-G-A |
c.7188C>T |
p.C2396= |
Synonymous |
42/52 |
- |
2 |
12-5981889-G-A |
c.7184C>T |
p.A2395V |
Missense |
42/52 |
- |
1 |
12-5981890-C-T |
c.7183G>A |
p.A2395T |
Missense |
42/52 |
- |
1 |
12-5981891-A-C |
c.7182T>G |
p.C2394W |
Missense |
42/52 |
- |
1 |
12-5981895-T-C |
c.7178A>G |
p.E2393G |
Missense |
42/52 |
- |
1 |
12-5981897-A-C |
c.7176T>G |
p.Y2392* |
Nonsense |
42/52 |
- |
2 |
12-5981897-A-T |
c.7176T>A |
p.Y2392* |
Nonsense |
42/52 |
- |
1 |
12-5981899-A-C |
c.7174T>G |
p.Y2392D |
Missense |
42/52 |
- |
1 |
12-5981899-A-G |
c.7174T>C |
p.Y2392H |
Missense |
42/52 |
- |
1 |
12-5981900-C-A |
c.7173G>T |
p.E2391D |
Missense |
42/52 |
- |
1 |
12-5981900-C-G |
c.7173G>C |
p.E2391D |
Missense |
42/52 |
- |
1 |
12-5981912-C-T |
c.7161G>A |
p.Q2387= |
Synonymous |
42/52 |
- |
1 |
12-5981913-T-G |
c.7160A>C |
p.Q2387P |
Missense |
42/52 |
- |
1 |
12-5981914-G-T |
c.7159C>A |
p.Q2387K |
Missense |
42/52 |
- |
1 |
12-5981920-T-C |
c.7153A>G |
p.K2385E |
Missense |
42/52 |
- |
1 |
12-5981922-C-G |
c.7151G>C |
p.R2384P |
Missense |
42/52 |
- |
1 |
12-5981922-C-T |
c.7151G>A |
p.R2384Q |
Missense |
42/52 |
- |
4 |
12-5981923-G-A |
c.7150C>T |
p.R2384W |
Missense |
42/52 |
- |
5 |
12-5981925-A-C |
c.7148T>G |
p.L2383R |
Missense |
42/52 |
- |
1 |
12-5981925-A-G |
c.7148T>C |
p.L2383P |
Missense |
42/52 |
- |
1 |
12-5981925-A-T |
c.7148T>A |
p.L2383H |
Missense |
42/52 |
- |
1 |
12-5981926-G-A |
c.7147C>T |
p.L2383F |
Missense |
42/52 |
- |
2 |
12-5981927-G-A |
c.7146C>T |
p.T2382= |
Synonymous |
42/52 |
- |
4 |
12-5981928-G-T |
c.7145C>A |
p.T2382N |
Missense |
42/52 |
- |
7 |
12-5981929-T-C |
c.7144A>G |
p.T2382A |
Missense |
42/52 |
- |
1 |
12-5981932-G-T |
c.7141C>A |
p.P2381T |
Missense |
42/52 |
- |
1 |
12-5981933-C-A |
c.7140G>T |
p.L2380F |
Missense |
42/52 |
- |
1 |
12-5981936-A-C |
c.7137T>G |
p.R2379= |
Synonymous |
42/52 |
- |
1 |
12-5981936-A-G |
c.7137T>C |
p.R2379= |
Synonymous |
42/52 |
- |
1 |
12-5981936-A-T |
c.7137T>A |
p.R2379= |
Synonymous |
42/52 |
- |
1 |
12-5981937-C-G |
c.7136G>C |
p.R2379P |
Missense |
42/52 |
- |
1 |
12-5981937-C-T |
c.7136G>A |
p.R2379H |
Missense |
42/52 |
- |
15 |
12-5981938-G-A |
c.7135C>T |
p.R2379C |
Missense |
42/52 |
- |
3 |
12-5981937-C-CG |
c.7135dup |
p.R2379Pfs*12 |
Frameshift |
42/52 |
- |
1 |
12-5981940-T-G |
c.7133A>C |
p.H2378P |
Missense |
42/52 |
- |
2 |
12-5981941-G-GC |
c.7131dup |
p.H2378Afs*13 |
Frameshift |
42/52 |
- |
1 |
12-5981942-C-A |
c.7131G>T |
p.P2377= |
Synonymous |
42/52 |
- |
6 |
12-5981942-C-G |
c.7131G>C |
p.P2377= |
Synonymous |
42/52 |
- |
7 |
12-5981942-C-T |
c.7131G>A |
p.P2377= |
Synonymous |
42/52 |
- |
8 |
12-5981943-G-A |
c.7130C>T |
p.P2377L |
Missense |
42/52 |
- |
2 |
12-5981944-G-T |
c.7129C>A |
p.P2377T |
Missense |
42/52 |
- |
3 |
12-5981947-G-A |
c.7126C>T |
p.P2376S |
Missense |
42/52 |
- |
1 |
12-5981942-C-CG |
c.7130dup |
p.H2378Afs*13 |
Frameshift |
42/52 |
- |
6 |
12-5981948-G-GC |
c.7124dup |
p.C2375Wfs*16 |
Frameshift |
42/52 |
- |
1 |
12-5981949-C-G |
c.7124G>C |
p.C2375S |
Missense |
42/52 |
- |
1 |
12-5981950-A-G |
c.7123T>C |
p.C2375R |
Missense |
42/52 |
- |
1 |
12-5981950-A-T |
c.7123T>A |
p.C2375S |
Missense |
42/52 |
- |
1 |
12-5981953-A-C |
c.7120T>G |
p.S2374A |
Missense |
42/52 |
- |
1 |
12-5981953-A-G |
c.7120T>C |
p.S2374P |
Missense |
42/52 |
- |
4 |
12-5981953-A-T |
c.7120T>A |
p.S2374T |
Missense |
42/52 |
- |
1 |
12-5981955-G-A |
c.7118C>T |
p.P2373L |
Missense |
42/52 |
- |
1 |
12-5981956-G-A |
c.7117C>T |
p.P2373S |
Missense |
42/52 |
- |
1 |
12-5981957-T-A |
c.7116A>T |
p.P2372= |
Synonymous |
42/52 |
- |
1 |
12-5981957-T-C |
c.7116A>G |
p.P2372= |
Synonymous |
42/52 |
- |
1 |
12-5981957-T-G |
c.7116A>C |
p.P2372= |
Synonymous |
42/52 |
- |
1 |
12-5981958-G-A |
c.7115C>T |
p.P2372L |
Missense |
42/52 |
- |
2 |
12-5981959-G-A |
c.7114C>T |
p.P2372S |
Missense |
42/52 |
- |
1 |
12-5981965-C-T |
c.7108G>A |
p.V2370M |
Missense |
42/52 |
- |
1 |
12-5981968-T-A |
c.7105A>T |
p.R2369* |
Nonsense |
42/52 |
- |
1 |
12-5981972-G-T |
c.7101C>A |
p.C2367* |
Nonsense |
42/52 |
- |
1 |
12-5981974-A-C |
c.7099T>G |
p.C2367G |
Missense |
42/52 |
- |
1 |
12-5981975-C-A |
c.7098G>T |
p.E2366D |
Missense |
42/52 |
- |
2 |
12-5981975-C-G |
c.7098G>C |
p.E2366D |
Missense |
42/52 |
- |
2 |
12-5981974-ACTC-A |
c.7096_7098del |
p.E2366del |
InFrameDeletion |
42/52 |
- |
1 |
12-5981980-C-G |
c.7093G>C |
p.E2365Q |
Missense |
42/52 |
- |
1 |
12-5981980-C-T |
c.7093G>A |
p.E2365K |
Missense |
42/52 |
- |
6 |
12-5981982-T-C |
c.7091A>G |
p.K2364R |
Missense |
42/52 |
- |
1 |
12-5981985-C-G |
c.7088G>C |
p.R2363T |
Missense |
42/52 |
- |
1 |
12-5981986-T-C |
c.7087A>G |
p.R2363G |
Missense |
42/52 |
- |
1 |
12-5981987-G-T |
c.7086C>A |
p.C2362* |
Nonsense |
42/52 |
- |
1 |
12-5981988-C-A |
c.7085G>T |
p.C2362F |
Missense |
42/52 |
- |
13 |
12-5981990-G-A |
c.7083C>T |
p.A2361= |
Synonymous |
42/52 |
- |
3 |
12-5981991-G-A |
c.7082C>T |
p.A2361V |
Missense |
42/52 |
- |
7 |
12-5981993-T-C |
c.7082-2A>G |
- |
IntronicSNV |
- |
41/51 |
1 |
12-5981998-G-A |
c.7082-7C>T |
- |
IntronicSNV |
- |
41/51 |
9 |
12-5982004-C-G |
c.7082-13G>C |
- |
IntronicSNV |
- |
41/51 |
1 |
12-5982039-C-A |
c.7082-48G>T |
- |
IntronicSNV |
- |
41/51 |
3 |
12-5982039-C-T |
c.7082-48G>A |
- |
IntronicSNV |
- |
41/51 |
3 |
12-5983144-C-A |
c.7081+6G>T |
- |
IntronicSNV |
- |
41/51 |
1 |
12-5983146-T-A |
c.7081+4A>T |
- |
IntronicSNV |
- |
41/51 |
1 |
12-5983151-G-T |
c.7080C>A |
p.C2360* |
Nonsense |
41/52 |
- |
1 |
12-5983157-G-A |
c.7074C>T |
p.F2358= |
Synonymous |
41/52 |
- |
3 |
12-5983159-A-C |
c.7072T>G |
p.F2358V |
Missense |
41/52 |
- |
1 |
12-5983161-T-A |
c.7070A>T |
p.N2357I |
Missense |
41/52 |
- |
1 |
12-5983161-T-G |
c.7070A>C |
p.N2357T |
Missense |
41/52 |
- |
1 |
12-5983163-G-A |
c.7068C>T |
p.P2356= |
Synonymous |
41/52 |
- |
1 |
12-5983163-G-C |
c.7068C>G |
p.P2356= |
Synonymous |
41/52 |
- |
1 |
12-5983163-G-T |
c.7068C>A |
p.P2356= |
Synonymous |
41/52 |
- |
1 |
12-5983164-GG-AA |
c.7066_7067delinsTT |
p.P2356F |
Missense |
41/52 |
- |
1 |
12-5983166-T-A |
c.7065A>T |
p.R2355S |
Missense |
41/52 |
- |
1 |
12-5983166-T-G |
c.7065A>C |
p.R2355S |
Missense |
41/52 |
- |
1 |
12-5983170-C-T |
c.7061G>A |
p.C2354Y |
Missense |
41/52 |
- |
3 |
12-5983172-C-A |
c.7059G>T |
p.E2353D |
Missense |
41/52 |
- |
2 |
12-5983172-C-G |
c.7059G>C |
p.E2353D |
Missense |
41/52 |
- |
3 |
12-5983174-C-T |
c.7057G>A |
p.E2353K |
Missense |
41/52 |
- |
3 |
12-5983175-G-A |
c.7056C>T |
p.G2352= |
Synonymous |
41/52 |
- |
7 |
12-5983175-G-C |
c.7056C>G |
p.G2352= |
Synonymous |
41/52 |
- |
1 |
12-5983175-G-T |
c.7056C>A |
p.G2352= |
Synonymous |
41/52 |
- |
1 |
12-5983176-C-T |
c.7055G>A |
p.G2352D |
Missense |
41/52 |
- |
1 |
12-5983182-T-A |
c.7049A>T |
p.N2350I |
Missense |
41/52 |
- |
1 |
12-5983186-T-C |
c.7045A>G |
p.T2349A |
Missense |
41/52 |
- |
1 |
12-5983189-G-A |
c.7042C>T |
p.L2348= |
Synonymous |
41/52 |
- |
1 |
12-5983189-G-T |
c.7042C>A |
p.L2348M |
Missense |
41/52 |
- |
1 |
12-5983194-G-A |
c.7037C>T |
p.P2346L |
Missense |
41/52 |
- |
1 |
12-5983194-G-T |
c.7037C>A |
p.P2346H |
Missense |
41/52 |
- |
1 |
12-5983195-G-T |
c.7036C>A |
p.P2346T |
Missense |
41/52 |
- |
1 |
12-5983198-G-A |
c.7033C>T |
p.Q2345* |
Nonsense |
41/52 |
- |
2 |
12-5983199-G-A |
c.7032C>T |
p.L2344= |
Synonymous |
41/52 |
- |
1 |
12-5983202-G-A |
c.7029C>T |
p.G2343= |
Synonymous |
41/52 |
- |
1 |
12-5983206-C-A |
c.7025G>T |
p.R2342L |
Missense |
41/52 |
- |
2 |
12-5983206-C-T |
c.7025G>A |
p.R2342H |
Missense |
41/52 |
- |
3 |
12-5983207-G-A |
c.7024C>T |
p.R2342C |
Missense |
41/52 |
- |
3 |
12-5983209-T-G |
c.7022A>C |
p.E2341A |
Missense |
41/52 |
- |
2 |
12-5983216-G-A |
c.7015C>T |
p.H2339Y |
Missense |
41/52 |
- |
1 |
12-5983224-G-A |
c.7007C>T |
p.P2336L |
Missense |
41/52 |
- |
2 |
12-5983225-G-A |
c.7006C>T |
p.P2336S |
Missense |
41/52 |
- |
1 |
12-5983228-G-A |
c.7003C>T |
p.P2335S |
Missense |
41/52 |
- |
1 |
12-5983228-GCAGGTCACAGCTCACTGGGTCACACA-G |
c.6977_7002del |
p.V2326Afs*7 |
SpliceAcceptorDeletion |
41/52 |
40/51 |
1 |
12-5983242-A-C |
c.6989T>G |
p.V2330G |
Missense |
41/52 |
- |
2 |
12-5983247-G-A |
c.6984C>T |
p.D2328= |
Synonymous |
41/52 |
- |
1 |
12-5983249-C-G |
c.6982G>C |
p.D2328H |
Missense |
41/52 |
- |
1 |
12-5983250-A-C |
c.6981T>G |
p.C2327W |
Missense |
41/52 |
- |
1 |
12-5983251-C-T |
c.6980G>A |
p.C2327Y |
Missense |
41/52 |
- |
2 |
12-5983254-A-G |
c.6977T>C |
p.V2326A |
Missense |
41/52 |
- |
1 |
12-5983276-G-A |
c.6977-22C>T |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983396-G-A |
c.6977-142C>T |
- |
IntronicSNV |
- |
40/51 |
3 |
12-5983436-A-T |
c.6977-182T>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983437-T-A |
c.6977-183A>T |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983443-C-A |
c.6977-189G>T |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983476-G-C |
c.6977-222C>G |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983480-C-G |
c.6977-226G>C |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983480-C-T |
c.6977-226G>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5983962-G-A |
c.6977-708C>T |
- |
IntronicSNV |
- |
40/51 |
2 |
12-5983966-G-GGATGGATGGATAGATA |
c.6977-713_6977-712insTATCTATCCATCCATC |
- |
IntronicInsertion |
- |
40/51 |
1 |
12-5983970-A-G |
c.6977-716T>C |
- |
IntronicSNV |
- |
40/51 |
7 |
12-5983974-G-A |
c.6977-720C>T |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984033-C-T |
c.6977-779G>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984116-A-T |
c.6977-862T>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984121-C-T |
c.6977-867G>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984134-T-C |
c.6977-880A>G |
- |
IntronicSNV |
- |
40/51 |
2 |
12-5984786-T-C |
c.6976+259A>G |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984899-C-T |
c.6976+146G>A |
- |
IntronicSNV |
- |
40/51 |
2 |
12-5984916-G-A |
c.6976+129C>T |
- |
IntronicSNV |
- |
40/51 |
3 |
12-5984934-C-T |
c.6976+111G>A |
- |
IntronicSNV |
- |
40/51 |
1 |
12-5984986-G-A |
c.6976+59C>T |
- |
IntronicSNV |
- |
40/51 |
4 |
12-5985048-A-T |
c.6973T>A |
p.C2325S |
Missense |
40/52 |
- |
1 |
12-5985051-C-T |
c.6970G>A |
p.E2324K |
Missense |
40/52 |
- |
5 |
12-5985056-T-A |
c.6965A>T |
p.E2322V |
Missense |
40/52 |
- |
3 |
12-5985057-C-T |
c.6964G>A |
p.E2322K |
Missense |
40/52 |
- |
4 |
12-5985057-CG-C |
c.6963del |
p.E2322Sfs*9 |
Frameshift |
40/52 |
- |
1 |
12-5985062-CA-GT |
c.6958_6959delinsAC |
p.C2320T |
Missense |
40/52 |
- |
1 |
12-5985070-G-C |
c.6951C>G |
p.D2317E |
Missense |
40/52 |
- |
4 |
12-5985070-G-T |
c.6951C>A |
p.D2317E |
Missense |
40/52 |
- |
2 |
12-5985074-G-A |
c.6947C>T |
p.A2316V |
Missense |
40/52 |
- |
1 |
12-5985081-G-A |
c.6940C>T |
p.Q2314* |
Nonsense |
40/52 |
- |
1 |
12-5985081-G-C |
c.6940C>G |
p.Q2314E |
Missense |
40/52 |
- |
2 |
12-5985083-C-T |
c.6938G>A |
p.R2313H |
Missense |
40/52 |
- |
4 |
12-5985084-G-A |
c.6937C>T |
p.R2313C |
Missense |
40/52 |
- |
6 |
12-5985087-G-C |
c.6934C>G |
p.L2312V |
Missense |
40/52 |
- |
1 |
12-5985089-C-T |
c.6932G>A |
p.R2311H |
Missense |
40/52 |
- |
1 |
12-5985090-G-A |
c.6931C>T |
p.R2311C |
Missense |
40/52 |
- |
3 |
12-5985099-C-T |
c.6922G>A |
p.E2308K |
Missense |
40/52 |
- |
3 |
12-5985102-A-G |
c.6919T>C |
p.C2307R |
Missense |
40/52 |
- |
1 |
12-5985103-C-G |
c.6918G>C |
p.L2306= |
Synonymous |
40/52 |
- |
4 |
12-5985103-C-T |
c.6918G>A |
p.L2306= |
Synonymous |
40/52 |
- |
2 |
12-5985104-A-C |
c.6917T>G |
p.L2306R |
Missense |
40/52 |
- |
1 |
12-5985104-CA-C |
c.6917del |
p.L2306Rfs*4 |
Frameshift |
40/52 |
- |
1 |
12-5985110-C-T |
c.6911G>A |
p.C2304Y |
Missense |
40/52 |
- |
5 |
12-5985112-C-A |
c.6909G>T |
p.T2303= |
Synonymous |
40/52 |
- |
1 |
12-5985112-C-G |
c.6909G>C |
p.T2303= |
Synonymous |
40/52 |
- |
3 |
12-5985112-C-T |
c.6909G>A |
p.T2303= |
Synonymous |
40/52 |
- |
3 |
12-5985111-ACGTGGGAG-A |
c.6902_6909del |
p.A2301Vfs*5 |
SpliceAcceptorDeletion |
40/52 |
39/51 |
1 |
12-5985113-G-A |
c.6908C>T |
p.T2303M |
Missense |
40/52 |
- |
2 |
12-5985113-G-T |
c.6908C>A |
p.T2303K |
Missense |
40/52 |
- |
1 |
12-5985114-T-C |
c.6907A>G |
p.T2303A |
Missense |
40/52 |
- |
1 |
12-5985114-T-G |
c.6907A>C |
p.T2303P |
Missense |
40/52 |
- |
1 |
12-5985115-G-T |
c.6906C>A |
p.P2302= |
Synonymous |
40/52 |
- |
1 |
12-5985116-G-A |
c.6905C>T |
p.P2302L |
Missense |
40/52 |
- |
1 |
12-5985117-G-A |
c.6904C>T |
p.P2302S |
Missense |
40/52 |
- |
5 |
12-5985117-G-C |
c.6904C>G |
p.P2302A |
Missense |
40/52 |
- |
1 |
12-5985124-A-T |
c.6902-5T>A |
- |
IntronicSNV |
- |
39/51 |
1 |
12-5985125-G-A |
c.6902-6C>T |
- |
IntronicSNV |
- |
39/51 |
1 |
12-5985125-G-C |
c.6902-6C>G |
- |
IntronicSNV |
- |
39/51 |
1 |
12-5985224-C-T |
c.6902-105G>A |
- |
IntronicSNV |
- |
39/51 |
6 |
12-5985329-C-G |
c.6902-210G>C |
- |
IntronicSNV |
- |
39/51 |
3 |
12-5985566-T-C |
c.6898A>G |
p.K2300E |
Missense |
39/52 |
- |
1 |
12-5985568-G-A |
c.6896C>T |
p.A2299V |
Missense |
39/52 |
- |
1 |
12-5985569-C-T |
c.6895G>A |
p.A2299T |
Missense |
39/52 |
- |
3 |
12-5985570-C-T |
c.6894G>A |
p.T2298= |
Synonymous |
39/52 |
- |
1 |
12-5985571-G-A |
c.6893C>T |
p.T2298M |
Missense |
39/52 |
- |
2 |
12-5985572-T-A |
c.6892A>T |
p.T2298S |
Missense |
39/52 |
- |
1 |
12-5985572-T-C |
c.6892A>G |
p.T2298A |
Missense |
39/52 |
- |
2 |
12-5985573-G-A |
c.6891C>T |
p.P2297= |
Synonymous |
39/52 |
- |
3 |
12-5985574-G-A |
c.6890C>T |
p.P2297L |
Missense |
39/52 |
- |
2 |
12-5985574-G-C |
c.6890C>G |
p.P2297R |
Missense |
39/52 |
- |
1 |
12-5985575-G-A |
c.6889C>T |
p.P2297S |
Missense |
39/52 |
- |
1 |
12-5985579-G-A |
c.6885C>T |
p.P2295= |
Synonymous |
39/52 |
- |
1 |
12-5985580-G-A |
c.6884C>T |
p.P2295L |
Missense |
39/52 |
- |
2 |
12-5985585-C-A |
c.6879G>T |
p.T2293= |
Synonymous |
39/52 |
- |
1 |
12-5985585-C-G |
c.6879G>C |
p.T2293= |
Synonymous |
39/52 |
- |
1 |
12-5985585-C-T |
c.6879G>A |
p.T2293= |
Synonymous |
39/52 |
- |
2 |
12-5985586-G-A |
c.6878C>T |
p.T2293M |
Missense |
39/52 |
- |
3 |
12-5985589-G-T |
c.6875C>A |
p.T2292K |
Missense |
39/52 |
- |
1 |
12-5985590-T-C |
c.6874A>G |
p.T2292A |
Missense |
39/52 |
- |
1 |
12-5985592-C-G |
c.6872G>C |
p.C2291S |
Missense |
39/52 |
- |
1 |
12-5985597-G-A |
c.6867C>T |
p.V2289= |
Synonymous |
39/52 |
- |
3 |
12-5985604-C-T |
c.6860G>A |
p.R2287Q |
Missense |
39/52 |
- |
6 |
12-5985603-C-A |
c.6861G>T |
p.R2287= |
Synonymous |
39/52 |
- |
1 |
12-5985603-C-G |
c.6861G>C |
p.R2287= |
Synonymous |
39/52 |
- |
1 |
12-5985603-C-T |
c.6861G>A |
p.R2287= |
Synonymous |
39/52 |
- |
1 |
12-5985605-G-A |
c.6859C>T |
p.R2287W |
Missense |
39/52 |
- |
14 |
12-5985605-G-C |
c.6859C>G |
p.R2287G |
Missense |
39/52 |
- |
2 |
12-5985605-G-T |
c.6859C>A |
p.R2287= |
Synonymous |
39/52 |
- |
1 |
12-5985606-C-A |
c.6858G>T |
p.G2286= |
Synonymous |
39/52 |
- |
1 |
12-5985606-C-G |
c.6858G>C |
p.G2286= |
Synonymous |
39/52 |
- |
1 |
12-5985606-C-T |
c.6858G>A |
p.G2286= |
Synonymous |
39/52 |
- |
1 |
12-5985607-C-T |
c.6857G>A |
p.G2286E |
Missense |
39/52 |
- |
3 |
12-5985608-CCGCT-C |
c.6853_6856del |
p.S2285Gfs*24 |
Frameshift |
39/52 |
- |
1 |
12-5985608-C-T |
c.6856G>A |
p.G2286R |
Missense |
39/52 |
- |
1 |
12-5985609-G-A |
c.6855C>T |
p.S2285= |
Synonymous |
39/52 |
- |
2 |
12-5985609-G-C |
c.6855C>G |
p.S2285R |
Missense |
39/52 |
- |
1 |
12-5985609-G-T |
c.6855C>A |
p.S2285R |
Missense |
39/52 |
- |
1 |
12-5985611-T-G |
c.6853A>C |
p.S2285R |
Missense |
39/52 |
- |
1 |
12-5985614-G-T |
c.6850C>A |
p.L2284I |
Missense |
39/52 |
- |
1 |
12-5985615-G-T |
c.6849C>A |
p.C2283* |
Nonsense |
39/52 |
- |
1 |
12-5985617-A-G |
c.6847T>C |
p.C2283R |
Missense |
39/52 |
- |
4 |
12-5985618-T-A |
c.6846A>T |
p.T2282= |
Synonymous |
39/52 |
- |
2 |
12-5985618-T-C |
c.6846A>G |
p.T2282= |
Synonymous |
39/52 |
- |
5 |
12-5985618-T-G |
c.6846A>C |
p.T2282= |
Synonymous |
39/52 |
- |
2 |
12-5985618-TGT-ACA |
c.6844_6846inv |
p.T2282C |
Missense |
39/52 |
- |
1 |
12-5985633-G-A |
c.6831C>T |
p.P2277= |
Synonymous |
39/52 |
- |
2 |
12-5985633-G-C |
c.6831C>G |
p.P2277= |
Synonymous |
39/52 |
- |
2 |
12-5985633-G-T |
c.6831C>A |
p.P2277= |
Synonymous |
39/52 |
- |
2 |
12-5985634-G-A |
c.6830C>T |
p.P2277L |
Missense |
39/52 |
- |
1 |
12-5985634-G-C |
c.6830C>G |
p.P2277R |
Missense |
39/52 |
- |
1 |
12-5985635-G-A |
c.6829C>T |
p.P2277S |
Missense |
39/52 |
- |
1 |
12-5985635-G-C |
c.6829C>G |
p.P2277A |
Missense |
39/52 |
- |
1 |
12-5985636-C-T |
c.6828G>A |
p.Q2276= |
Synonymous |
39/52 |
- |
1 |
12-5985646-G-A |
c.6818C>T |
p.P2273L |
Missense |
39/52 |
- |
1 |
12-5985647-G-A |
c.6817C>T |
p.P2273S |
Missense |
39/52 |
- |
3 |
12-5985655-G-A |
c.6809C>T |
p.A2270V |
Missense |
39/52 |
- |
1 |
12-5985658-T-G |
c.6806A>C |
p.E2269A |
Missense |
39/52 |
- |
1 |
12-5985662-G-A |
c.6802C>T |
p.L2268= |
Synonymous |
39/52 |
- |
2 |
12-5985663-G-A |
c.6801C>T |
p.F2267= |
Synonymous |
39/52 |
- |
1 |
12-5985679-G-A |
c.6799-14C>T |
- |
IntronicSNV |
- |
38/51 |
10 |
12-5985679-G-C |
c.6799-14C>G |
- |
IntronicSNV |
- |
38/51 |
10 |
12-5985771-C-G |
c.6799-106G>C |
- |
IntronicSNV |
- |
38/51 |
4 |
12-5986108-T-C |
c.6799-443A>G |
- |
IntronicSNV |
- |
38/51 |
4 |
12-5987510-G-A |
c.6799-1845C>T |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5987525-G-A |
c.6799-1860C>T |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5987546-A-G |
c.6799-1881T>C |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5987650-C-T |
c.6799-1985G>A |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5988491-C-A |
c.6799-2826G>T |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5988491-C-T |
c.6799-2826G>A |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5990287-T-C |
c.6798+1532A>G |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5990683-C-A |
c.6798+1136G>T |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5990683-C-G |
c.6798+1136G>C |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5991319-A-G |
c.6798+500T>C |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5991630-C-T |
c.6798+189G>A |
- |
IntronicSNV |
- |
38/51 |
2 |
12-5991787-C-T |
c.6798+32G>A |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5991805-G-A |
c.6798+14C>T |
- |
IntronicSNV |
- |
38/51 |
1 |
12-5991818-C-A |
c.6798+1G>T |
- |
IntronicSNV |
- |
38/51 |
2 |
12-5991827-G-A |
c.6790C>T |
p.Q2264* |
Nonsense |
38/52 |
- |
1 |
12-5991832-C-A |
c.6785G>T |
p.G2262V |
Missense |
38/52 |
- |
1 |
12-5991833-C-T |
c.6784G>A |
p.G2262R |
Missense |
38/52 |
- |
1 |
12-5991847-C-G |
c.6770G>C |
p.C2257S |
Missense |
38/52 |
- |
1 |
12-5991848-A-T |
c.6769T>A |
p.C2257S |
Missense |
38/52 |
- |
1 |
12-5991851-G-A |
c.6766C>T |
p.Q2256* |
Nonsense |
38/52 |
- |
1 |
12-5991853-G-A |
c.6764C>T |
p.T2255I |
Missense |
38/52 |
- |
1 |
12-5991853-G-C |
c.6764C>G |
p.T2255S |
Missense |
38/52 |
- |
2 |
12-5991854-T-A |
c.6763A>T |
p.T2255S |
Missense |
38/52 |
- |
1 |
12-5991856-C-T |
c.6761G>A |
p.C2254Y |
Missense |
38/52 |
- |
1 |
12-5991861-C-T |
c.6756G>A |
p.E2252= |
Synonymous |
38/52 |
- |
3 |
12-5991866-C-G |
c.6751G>C |
p.E2251Q |
Missense |
38/52 |
- |
1 |
12-5991866-C-T |
c.6751G>A |
p.E2251K |
Missense |
38/52 |
- |
1 |
12-5991867-A-C |
c.6750T>G |
p.P2250= |
Synonymous |
38/52 |
- |
1 |
12-5991867-A-G |
c.6750T>C |
p.P2250= |
Synonymous |
38/52 |
- |
1 |
12-5991867-A-T |
c.6750T>A |
p.P2250= |
Synonymous |
38/52 |
- |
1 |
12-5991869-G-A |
c.6748C>T |
p.P2250S |
Missense |
38/52 |
- |
6 |
12-5991874-C-T |
c.6743G>A |
p.C2248Y |
Missense |
38/52 |
- |
1 |
12-5991877-C-A |
c.6740G>T |
p.S2247I |
Missense |
38/52 |
- |
1 |
12-5991880-C-A |
c.6737G>T |
p.G2246V |
Missense |
38/52 |
- |
1 |
12-5991880-C-T |
c.6737G>A |
p.G2246D |
Missense |
38/52 |
- |
3 |
12-5991881-C-G |
c.6736G>C |
p.G2246R |
Missense |
38/52 |
- |
1 |
12-5991885-C-A |
c.6732G>T |
p.L2244F |
Missense |
38/52 |
- |
3 |
12-5991886-A-C |
c.6731T>G |
p.L2244W |
Missense |
38/52 |
- |
1 |
12-5991886-A-G |
c.6731T>C |
p.L2244S |
Missense |
38/52 |
- |
1 |
12-5991899-C-G |
c.6718G>C |
p.D2240H |
Missense |
38/52 |
- |
2 |
12-5991905-G-A |
c.6712C>T |
p.P2238S |
Missense |
38/52 |
- |
1 |
12-5991906-G-A |
c.6711C>T |
p.C2237= |
Synonymous |
38/52 |
- |
2 |
12-5991908-A-G |
c.6709T>C |
p.C2237R |
Missense |
38/52 |
- |
1 |
12-5991909-G-C |
c.6708C>G |
p.F2236L |
Missense |
38/52 |
- |
1 |
12-5991909-G-T |
c.6708C>A |
p.F2236L |
Missense |
38/52 |
- |
1 |
12-5991911-A-G |
c.6706T>C |
p.F2236L |
Missense |
38/52 |
- |
1 |
12-5991920-C-T |
c.6697G>A |
p.E2233K |
Missense |
38/52 |
- |
2 |
12-5991921-G-A |
c.6696C>T |
p.S2232= |
Synonymous |
38/52 |
- |
2 |
12-5991926-G-A |
c.6691C>T |
p.P2231S |
Missense |
38/52 |
- |
7 |
12-5991929-G-T |
c.6688C>A |
p.H2230N |
Missense |
38/52 |
- |
2 |
12-5991936-A-C |
c.6681T>G |
p.C2227W |
Missense |
38/52 |
- |
2 |
12-5991940-G-A |
c.6677C>T |
p.S2226F |
Missense |
38/52 |
- |
2 |
12-5991942-G-A |
c.6675C>T |
p.S2225= |
Synonymous |
38/52 |
- |
1 |
12-5991943-C-T |
c.6674G>A |
p.S2225N |
Missense |
38/52 |
- |
2 |
12-5991945-C-T |
c.6672G>A |
p.V2224= |
Synonymous |
38/52 |
- |
1 |
12-5991947-C-T |
c.6670G>A |
p.V2224M |
Missense |
38/52 |
- |
8 |
12-5991948-G-T |
c.6669C>A |
p.N2223K |
Missense |
38/52 |
- |
1 |
12-5991953-C-G |
c.6664G>C |
p.G2222R |
Missense |
38/52 |
- |
1 |
12-5991953-C-T |
c.6664G>A |
p.G2222S |
Missense |
38/52 |
- |
2 |
12-5991954-A-G |
c.6663T>C |
p.D2221= |
Synonymous |
38/52 |
- |
1 |
12-5991958-CA-GT |
c.6658_6659delinsAC |
p.C2220T |
Missense |
38/52 |
- |
1 |
12-5991959-A-C |
c.6658T>G |
p.C2220G |
Missense |
38/52 |
- |
1 |
12-5991960-G-A |
c.6657C>T |
p.H2219= |
Synonymous |
38/52 |
- |
1 |
12-5991964-C-T |
c.6653G>A |
p.R2218Q |
Missense |
38/52 |
- |
1 |
12-5991965-G-A |
c.6652C>T |
p.R2218W |
Missense |
38/52 |
- |
6 |
12-5991966-G-A |
c.6651C>T |
p.P2217= |
Synonymous |
38/52 |
- |
1 |
12-5991968-G-A |
c.6649C>T |
p.P2217S |
Missense |
38/52 |
- |
3 |
12-5991969-A-G |
c.6648T>C |
p.C2216= |
Synonymous |
38/52 |
- |
2 |
12-5991970-AC-A |
c.6647del |
p.C2216Ffs*9 |
Frameshift |
38/52 |
- |
1 |
12-5991970-C-A |
c.6647G>T |
p.C2216F |
Missense |
38/52 |
- |
1 |
12-5991970-C-T |
c.6647G>A |
p.C2216Y |
Missense |
38/52 |
- |
2 |
12-5991973-C-T |
c.6644G>A |
p.G2215D |
Missense |
38/52 |
- |
2 |
12-5991975-A-C |
c.6642T>G |
p.H2214Q |
Missense |
38/52 |
- |
1 |
12-5991975-A-T |
c.6642T>A |
p.H2214Q |
Missense |
38/52 |
- |
1 |
12-5991978-C-A |
c.6639G>T |
p.E2213D |
Missense |
38/52 |
- |
1 |
12-5991980-C-T |
c.6637G>A |
p.E2213K |
Missense |
38/52 |
- |
1 |
12-5991983-A-G |
c.6634T>C |
p.C2212R |
Missense |
38/52 |
- |
1 |
12-5991985-TG-GC |
c.6631_6632delinsGC |
p.H2211A |
Missense |
38/52 |
- |
1 |
12-5991997-A-G |
c.6620T>C |
p.L2207P |
Missense |
38/52 |
- |
1 |
12-5992001-A-G |
c.6616T>C |
p.S2206P |
Missense |
38/52 |
- |
1 |
12-5992004-G-A |
c.6613C>T |
p.P2205S |
Missense |
38/52 |
- |
1 |
12-5992009-C-T |
c.6608G>A |
p.C2203Y |
Missense |
38/52 |
- |
1 |
12-5992038-T-A |
c.6599-20A>T |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993313-G-A |
c.6598+549C>T |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993598-G-A |
c.6598+264C>T |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993649-G-A |
c.6598+213C>T |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993651-A-G |
c.6598+211T>C |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993660-T-TAC |
c.6598+201_6598+202insGT |
- |
IntronicInsertion |
- |
37/51 |
1 |
12-5993660-T-TACAC |
c.6598+201_6598+202insGTGT |
- |
IntronicInsertion |
- |
37/51 |
1 |
12-5993662-T-C |
c.6598+200A>G |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993664-T-C |
c.6598+198A>G |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993736-C-T |
c.6598+126G>A |
- |
IntronicSNV |
- |
37/51 |
3 |
12-5993741-G-A |
c.6598+121C>T |
- |
IntronicSNV |
- |
37/51 |
4 |
12-5993794-G-A |
c.6598+68C>T |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993861-C-T |
c.6598+1G>A |
- |
IntronicSNV |
- |
37/51 |
1 |
12-5993864-C-T |
c.6596G>A |
p.C2199Y |
Missense |
37/52 |
- |
1 |
12-5993871-C-A |
c.6589G>T |
p.D2197Y |
Missense |
37/52 |
- |
1 |
12-5993871-C-T |
c.6589G>A |
p.D2197N |
Missense |
37/52 |
- |
1 |
12-5993875-TGT-ACA |
c.6583_6585inv |
p.T2195C |
Missense |
37/52 |
- |
1 |
12-5993876-G-A |
c.6584C>T |
p.T2195I |
Missense |
37/52 |
- |
1 |
12-5993880-T-G |
c.6580A>C |
p.R2194= |
Synonymous |
37/52 |
- |
1 |
12-5993881-C-G |
c.6579G>C |
p.W2193C |
Missense |
37/52 |
- |
1 |
12-5993881-C-T |
c.6579G>A |
p.W2193* |
Nonsense |
37/52 |
- |
1 |
12-5993880-T-TC |
c.6579dup |
p.R2194Efs*4 |
Frameshift |
37/52 |
- |
1 |
12-5993883-A-G |
c.6577T>C |
p.W2193R |
Missense |
37/52 |
- |
1 |
12-5993883-A-T |
c.6577T>A |
p.W2193R |
Missense |
37/52 |
- |
1 |
12-5993885-T-C |
c.6575A>G |
p.D2192G |
Missense |
37/52 |
- |
1 |
12-5993889-C-T |
c.6571G>A |
p.V2191I |
Missense |
37/52 |
- |
1 |
12-5993890-G-A |
c.6570C>T |
p.C2190= |
Synonymous |
37/52 |
- |
1 |
12-5993891-C-T |
c.6569G>A |
p.C2190Y |
Missense |
37/52 |
- |
1 |
12-5993896-C-T |
c.6564G>A |
p.G2188= |
Synonymous |
37/52 |
- |
4 |
12-5993897-CC-TG |
c.6562_6563delinsCA |
p.G2188Q |
Missense |
37/52 |
- |
1 |
12-5993897-C-G |
c.6563G>C |
p.G2188A |
Missense |
37/52 |
- |
1 |
12-5993897-C-T |
c.6563G>A |
p.G2188E |
Missense |
37/52 |
- |
2 |
12-5993898-C-G |
c.6562G>C |
p.G2188R |
Missense |
37/52 |
- |
5 |
12-5993898-C-T |
c.6562G>A |
p.G2188R |
Missense |
37/52 |
- |
5 |
12-5993899-G-A |
c.6561C>T |
p.N2187= |
Synonymous |
37/52 |
- |
3 |
12-5993906-C-T |
c.6554G>A |
p.R2185Q |
Missense |
37/52 |
- |
21 |
12-5993905-C-A |
c.6555G>T |
p.R2185= |
Synonymous |
37/52 |
- |
2 |
12-5993905-C-G |
c.6555G>C |
p.R2185= |
Synonymous |
37/52 |
- |
1 |
12-5993905-C-T |
c.6555G>A |
p.R2185= |
Synonymous |
37/52 |
- |
1 |
12-5993907-G-A |
c.6553C>T |
p.R2185W |
Missense |
37/52 |
- |
6 |
12-5993907-G-T |
c.6553C>A |
p.R2185= |
Synonymous |
37/52 |
- |
1 |
12-5993909-C-G |
c.6551G>C |
p.C2184S |
Missense |
37/52 |
- |
1 |
12-5993909-C-T |
c.6551G>A |
p.C2184Y |
Missense |
37/52 |
- |
2 |
12-5993911-G-A |
c.6549C>T |
p.L2183= |
Synonymous |
37/52 |
- |
4 |
12-5993913-G-A |
c.6547C>T |
p.L2183F |
Missense |
37/52 |
- |
1 |
12-5993914-G-A |
c.6546C>T |
p.H2182= |
Synonymous |
37/52 |
- |
1 |
12-5993917-G-A |
c.6543C>T |
p.A2181= |
Synonymous |
37/52 |
- |
1 |
12-5993921-T-A |
c.6539A>T |
p.Y2180F |
Missense |
37/52 |
- |
1 |
12-5993924-G-A |
c.6536C>T |
p.S2179F |
Missense |
37/52 |
- |
10 |
12-5993924-GA-CG |
c.6535_6536delinsCG |
p.S2179R |
Missense |
37/52 |
- |
2 |
12-5993924-G-C |
c.6536C>G |
p.S2179C |
Missense |
37/52 |
- |
1 |
12-5993928-C-A |
c.6532G>T |
p.A2178S |
Missense |
37/52 |
- |
13 |
12-5993928-C-T |
c.6532G>A |
p.A2178T |
Missense |
37/52 |
- |
3 |
12-5993929-G-A |
c.6531C>T |
p.I2177= |
Synonymous |
37/52 |
- |
2 |
12-5993929-G-T |
c.6531C>A |
p.I2177= |
Synonymous |
37/52 |
- |
1 |
12-5993931-T-G |
c.6529A>C |
p.I2177L |
Missense |
37/52 |
- |
2 |
12-5993935-C-T |
c.6525G>A |
p.E2175= |
Synonymous |
37/52 |
- |
1 |
12-5993939-C-A |
c.6521G>T |
p.C2174F |
Missense |
37/52 |
- |
1 |
12-5993940-A-C |
c.6520T>G |
p.C2174G |
Missense |
37/52 |
- |
1 |
12-5993946-G-T |
c.6514C>A |
p.Q2172K |
Missense |
37/52 |
- |
1 |
12-5993950-C-T |
c.6510G>A |
p.Q2170= |
Synonymous |
37/52 |
- |
1 |
12-5993954-T-A |
c.6506A>T |
p.H2169L |
Missense |
37/52 |
- |
1 |
12-5993956-G-T |
c.6504C>A |
p.C2168* |
Nonsense |
37/52 |
- |
2 |
12-5993957-CA-GC |
c.6502_6503delinsGC |
p.C2168A |
Missense |
37/52 |
- |
1 |
12-5993966-T-C |
c.6494A>G |
p.Q2165R |
Missense |
37/52 |
- |
1 |
12-5993970-G-A |
c.6490C>T |
p.Q2164* |
Nonsense |
37/52 |
- |
1 |
12-5993972-C-T |
c.6488G>A |
p.C2163Y |
Missense |
37/52 |
- |
2 |
12-5993974-G-T |
c.6486C>A |
p.I2162= |
Synonymous |
37/52 |
- |
1 |
12-5993976-T-A |
c.6484A>T |
p.I2162F |
Missense |
37/52 |
- |
1 |
12-5993976-T-C |
c.6484A>G |
p.I2162V |
Missense |
37/52 |
- |
1 |
12-5993979-C-T |
c.6481G>A |
p.A2161T |
Missense |
37/52 |
- |
1 |
12-5993981-T-C |
c.6479A>G |
p.Y2160C |
Missense |
37/52 |
- |
3 |
12-5993983-G-A |
c.6477C>T |
p.F2159= |
Synonymous |
37/52 |
- |
1 |
12-5993984-A-C |
c.6476T>G |
p.F2159C |
Missense |
37/52 |
- |
1 |
12-5993985-A-G |
c.6475T>C |
p.F2159L |
Missense |
37/52 |
- |
1 |
12-5993990-G-A |
c.6470C>T |
p.A2157V |
Missense |
37/52 |
- |
1 |
12-5993990-G-T |
c.6470C>A |
p.A2157D |
Missense |
37/52 |
- |
2 |
12-5993997-C-T |
c.6463G>A |
p.A2155T |
Missense |
37/52 |
- |
1 |
12-5994000-G-T |
c.6460C>A |
p.L2154M |
Missense |
37/52 |
- |
4 |
12-5994004-C-A |
c.6456G>T |
p.K2152N |
Missense |
37/52 |
- |
1 |
12-5994004-C-G |
c.6456G>C |
p.K2152N |
Missense |
37/52 |
- |
1 |
12-5994005-T-A |
c.6455A>T |
p.K2152M |
Missense |
37/52 |
- |
2 |
12-5994005-T-C |
c.6455A>G |
p.K2152R |
Missense |
37/52 |
- |
1 |
12-5994007-G-A |
c.6453C>T |
p.H2151= |
Synonymous |
37/52 |
- |
1 |
12-5994010-G-T |
c.6450C>A |
p.C2150* |
Nonsense |
37/52 |
- |
4 |
12-5994011-C-G |
c.6449G>C |
p.C2150S |
Missense |
37/52 |
- |
1 |
12-5994014-T-C |
c.6446A>G |
p.E2149G |
Missense |
37/52 |
- |
1 |
12-5994014-T-G |
c.6446A>C |
p.E2149A |
Missense |
37/52 |
- |
1 |
12-5994017-G-C |
c.6443C>G |
p.A2148G |
Missense |
37/52 |
- |
1 |
12-5994018-C-A |
c.6442G>T |
p.A2148S |
Missense |
37/52 |
- |
1 |
12-5994018-C-G |
c.6442G>C |
p.A2148P |
Missense |
37/52 |
- |
1 |
12-5994024-G-C |
c.6436C>G |
p.L2146V |
Missense |
37/52 |
- |
3 |
12-5994027-G-A |
c.6433C>T |
p.P2145S |
Missense |
37/52 |
- |
4 |
12-5994027-G-C |
c.6433C>G |
p.P2145A |
Missense |
37/52 |
- |
2 |
12-5994027-G-T |
c.6433C>A |
p.P2145T |
Missense |
37/52 |
- |
1 |
12-5994027-G-GT |
c.6432dup |
p.P2145Tfs*5 |
Frameshift |
37/52 |
- |
2 |
12-5994029-A-G |
c.6431T>C |
p.L2144S |
Missense |
37/52 |
- |
1 |
12-5994034-G-A |
c.6426C>T |
p.L2142= |
Synonymous |
37/52 |
- |
4 |
12-5994036-G-A |
c.6424C>T |
p.L2142F |
Missense |
37/52 |
- |
5 |
12-5994037-G-A |
c.6423C>T |
p.V2141= |
Synonymous |
37/52 |
- |
1 |
12-5994037-G-C |
c.6423C>G |
p.V2141= |
Synonymous |
37/52 |
- |
1 |
12-5994037-G-T |
c.6423C>A |
p.V2141= |
Synonymous |
37/52 |
- |
1 |
12-5994039-C-T |
c.6421G>A |
p.V2141I |
Missense |
37/52 |
- |
1 |
12-5994042-G-A |
c.6418C>T |
p.Q2140* |
Nonsense |
37/52 |
- |
1 |
12-5994044-C-T |
c.6416G>A |
p.C2139Y |
Missense |
37/52 |
- |
1 |
12-5994050-GA-CG |
c.6409_6410delinsCG |
p.S2137R |
Missense |
37/52 |
- |
1 |
12-5994050-G-T |
c.6410C>A |
p.S2137Y |
Missense |
37/52 |
- |
2 |
12-5994053-C-G |
c.6407G>C |
p.S2136T |
Missense |
37/52 |
- |
1 |
12-5994055-G-C |
c.6405C>G |
p.D2135E |
Missense |
37/52 |
- |
1 |
12-5994057-C-T |
c.6403G>A |
p.D2135N |
Missense |
37/52 |
- |
2 |
12-5994059-G-A |
c.6401C>T |
p.P2134L |
Missense |
37/52 |
- |
2 |
12-5994060-G-A |
c.6400C>T |
p.P2134S |
Missense |
37/52 |
- |
3 |
12-5994061-G-T |
c.6399C>A |
p.V2133= |
Synonymous |
37/52 |
- |
1 |
12-5994066-G-C |
c.6394C>G |
p.L2132V |
Missense |
37/52 |
- |
1 |
12-5994067-A-T |
c.6393T>A |
p.C2131* |
Nonsense |
37/52 |
- |
1 |
12-5994076-C-T |
c.6384G>A |
p.E2128= |
Synonymous |
37/52 |
- |
1 |
12-5994078-C-A |
c.6382G>T |
p.E2128* |
Nonsense |
37/52 |
- |
1 |
12-5994078-C-T |
c.6382G>A |
p.E2128K |
Missense |
37/52 |
- |
2 |
12-5994080-A-G |
c.6380T>C |
p.L2127P |
Missense |
37/52 |
- |
1 |
12-5994082-G-A |
c.6378C>T |
p.I2126= |
Synonymous |
37/52 |
- |
1 |
12-5994082-G-C |
c.6378C>G |
p.I2126M |
Missense |
37/52 |
- |
4 |
12-5994083-A-G |
c.6377T>C |
p.I2126T |
Missense |
37/52 |
- |
1 |
12-5994094-C-A |
c.6366G>T |
p.T2122= |
Synonymous |
37/52 |
- |
1 |
12-5994094-C-G |
c.6366G>C |
p.T2122= |
Synonymous |
37/52 |
- |
1 |
12-5994094-C-T |
c.6366G>A |
p.T2122= |
Synonymous |
37/52 |
- |
1 |
12-5994095-G-A |
c.6365C>T |
p.T2122M |
Missense |
37/52 |
- |
1 |
12-5994095-G-T |
c.6365C>A |
p.T2122K |
Missense |
37/52 |
- |
1 |
12-5994102-C-T |
c.6358G>A |
p.G2120R |
Missense |
37/52 |
- |
2 |
12-5994105-G-C |
c.6355C>G |
p.P2119A |
Missense |
37/52 |
- |
1 |
12-5994107-C-T |
c.6353G>A |
p.R2118Q |
Missense |
37/52 |
- |
4 |
12-5994106-C-A |
c.6354G>T |
p.R2118= |
Synonymous |
37/52 |
- |
1 |
12-5994106-C-G |
c.6354G>C |
p.R2118= |
Synonymous |
37/52 |
- |
1 |
12-5994106-C-T |
c.6354G>A |
p.R2118= |
Synonymous |
37/52 |
- |
1 |
12-5994108-G-A |
c.6352C>T |
p.R2118W |
Missense |
37/52 |
- |
6 |
12-5994108-G-T |
c.6352C>A |
p.R2118= |
Synonymous |
37/52 |
- |
1 |
12-5994115-A-T |
c.6345T>A |
p.T2115= |
Synonymous |
37/52 |
- |
2 |
12-5994119-C-T |
c.6341G>A |
p.W2114* |
Nonsense |
37/52 |
- |
5 |
12-5994123-C-A |
c.6337G>T |
p.E2113* |
Nonsense |
37/52 |
- |
1 |
12-5994123-C-T |
c.6337G>A |
p.E2113K |
Missense |
37/52 |
- |
1 |
12-5994126-G-A |
c.6334C>T |
p.Q2112* |
Nonsense |
37/52 |
- |
2 |
12-5994133-T-C |
c.6327A>G |
p.T2109= |
Synonymous |
37/52 |
- |
1 |
12-5994133-TG-CA |
c.6326_6327inv |
p.T2109M |
Missense |
37/52 |
- |
1 |
12-5994139-C-T |
c.6321G>A |
p.W2107* |
Nonsense |
37/52 |
- |
6 |
12-5994140-C-A |
c.6320G>T |
p.W2107L |
Missense |
37/52 |
- |
1 |
12-5994140-C-T |
c.6320G>A |
p.W2107* |
Nonsense |
37/52 |
- |
2 |
12-5994144-C-A |
c.6316G>T |
p.D2106Y |
Missense |
37/52 |
- |
2 |
12-5994149-G-A |
c.6311C>T |
p.T2104I |
Missense |
37/52 |
- |
3 |
12-5994154-TGT-ATG |
c.6304_6306delinsCAT |
p.T2102H |
Missense |
37/52 |
- |
1 |
12-5994155-GT-CC |
c.6304_6305delinsGG |
p.T2102G |
Missense |
37/52 |
- |
1 |
12-5994157-G-T |
c.6303C>A |
p.G2101= |
Synonymous |
37/52 |
- |
1 |
12-5994158-C-T |
c.6302G>A |
p.G2101D |
Missense |
37/52 |
- |
2 |
12-5994162-C-T |
c.6298G>A |
p.D2100N |
Missense |
37/52 |
- |
3 |
12-5994172-G-A |
c.6288C>T |
p.F2096= |
Synonymous |
37/52 |
- |
5 |
12-5994173-A-T |
c.6287T>A |
p.F2096Y |
Missense |
37/52 |
- |
1 |
12-5994179-T-C |
c.6281A>G |
p.N2094S |
Missense |
37/52 |
- |
2 |
12-5994183-C-G |
c.6277G>C |
p.A2093P |
Missense |
37/52 |
- |
1 |
12-5994185-C-G |
c.6275G>C |
p.G2092A |
Missense |
37/52 |
- |
2 |
12-5994185-C-T |
c.6275G>A |
p.G2092E |
Missense |
37/52 |
- |
1 |
12-5994186-C-G |
c.6274G>C |
p.G2092R |
Missense |
37/52 |
- |
2 |
12-5994186-C-T |
c.6274G>A |
p.G2092R |
Missense |
37/52 |
- |
3 |
12-5994194-T-C |
c.6266A>G |
p.D2089G |
Missense |
37/52 |
- |
1 |
12-5994195-C-A |
c.6265G>T |
p.D2089Y |
Missense |
37/52 |
- |
1 |
12-5994195-C-G |
c.6265G>C |
p.D2089H |
Missense |
37/52 |
- |
1 |
12-5994196-A-C |
c.6264T>G |
p.C2088W |
Missense |
37/52 |
- |
4 |
12-5994199-G-A |
c.6261C>T |
p.I2087= |
Synonymous |
37/52 |
- |
2 |
12-5994199-G-T |
c.6261C>A |
p.I2087= |
Synonymous |
37/52 |
- |
1 |
12-5994203-C-T |
c.6257G>A |
p.G2086E |
Missense |
37/52 |
- |
2 |
12-5994250-G-A |
c.6257-47C>T |
- |
IntronicSNV |
- |
36/51 |
1 |
12-5994250-G-C |
c.6257-47C>G |
- |
IntronicSNV |
- |
36/51 |
1 |
12-5994401-G-T |
c.6256+14C>A |
- |
IntronicSNV |
- |
36/51 |
1 |
12-5994412-T-TA |
c.6256+2dup |
- |
SpliceDonorInsertion |
- |
36/51 |
1 |
12-5994417-C-A |
c.6254G>T |
p.C2085F |
Missense |
36/52 |
- |
1 |
12-5994417-CA-GT |
c.6253_6254delinsAC |
p.C2085T |
Missense |
36/52 |
- |
1 |
12-5994417-C-T |
c.6254G>A |
p.C2085Y |
Missense |
36/52 |
- |
2 |
12-5994414-CCA-C |
c.6255_6256del |
p.C2085Wfs*4 |
SpliceDonorDeletion |
36/52 |
- |
1 |
12-5994421-G-C |
c.6250C>G |
p.L2084V |
Missense |
36/52 |
- |
3 |
12-5994423-C-T |
c.6248G>A |
p.G2083D |
Missense |
36/52 |
- |
1 |
12-5994424-C-A |
c.6247G>T |
p.G2083C |
Missense |
36/52 |
- |
1 |
12-5994427-A-G |
c.6244T>C |
p.Y2082H |
Missense |
36/52 |
- |
1 |
12-5994428-C-A |
c.6243G>T |
p.T2081= |
Synonymous |
36/52 |
- |
1 |
12-5994428-C-G |
c.6243G>C |
p.T2081= |
Synonymous |
36/52 |
- |
1 |
12-5994428-C-T |
c.6243G>A |
p.T2081= |
Synonymous |
36/52 |
- |
4 |
12-5994429-G-A |
c.6242C>T |
p.T2081M |
Missense |
36/52 |
- |
2 |
12-5994434-T-C |
c.6237A>G |
p.S2079= |
Synonymous |
36/52 |
- |
1 |
12-5994440-A-C |
c.6231T>G |
p.F2077L |
Missense |
36/52 |
- |
1 |
12-5994442-A-T |
c.6229T>A |
p.F2077I |
Missense |
36/52 |
- |
1 |
12-5994451-G-A |
c.6220C>T |
p.P2074S |
Missense |
36/52 |
- |
6 |
12-5994452-G-C |
c.6219C>G |
p.S2073R |
Missense |
36/52 |
- |
1 |
12-5994452-G-T |
c.6219C>A |
p.S2073R |
Missense |
36/52 |
- |
1 |
12-5994454-T-G |
c.6217A>C |
p.S2073R |
Missense |
36/52 |
- |
1 |
12-5994453-C-T |
c.6218G>A |
p.S2073N |
Missense |
36/52 |
- |
1 |
12-5994461-C-A |
c.6210G>T |
p.L2070= |
Synonymous |
36/52 |
- |
1 |
12-5994461-C-G |
c.6210G>C |
p.L2070= |
Synonymous |
36/52 |
- |
1 |
12-5994461-C-T |
c.6210G>A |
p.L2070= |
Synonymous |
36/52 |
- |
1 |
12-5994463-G-A |
c.6208C>T |
p.L2070= |
Synonymous |
36/52 |
- |
1 |
12-5994472-C-T |
c.6199G>A |
p.E2067K |
Missense |
36/52 |
- |
1 |
12-5994474-T-C |
c.6197A>G |
p.N2066S |
Missense |
36/52 |
- |
2 |
12-5994479-T-C |
c.6192A>G |
p.Q2064= |
Synonymous |
36/52 |
- |
1 |
12-5994481-G-T |
c.6190C>A |
p.Q2064K |
Missense |
36/52 |
- |
1 |
12-5994482-T-A |
c.6189A>T |
p.P2063= |
Synonymous |
36/52 |
- |
1 |
12-5994482-T-C |
c.6189A>G |
p.P2063= |
Synonymous |
36/52 |
- |
1 |
12-5994482-T-G |
c.6189A>C |
p.P2063= |
Synonymous |
36/52 |
- |
1 |
12-5994483-G-A |
c.6188C>T |
p.P2063L |
Missense |
36/52 |
- |
1 |
12-5994484-G-A |
c.6187C>T |
p.P2063S |
Missense |
36/52 |
- |
39 |
12-5994484-G-T |
c.6187C>A |
p.P2063T |
Missense |
36/52 |
- |
2 |
12-5994488-G-A |
c.6183C>T |
p.F2061= |
Synonymous |
36/52 |
- |
1 |
12-5994488-GA-G |
c.6182del |
p.F2061Sfs*38 |
Frameshift |
36/52 |
- |
3 |
12-5994497-G-C |
c.6174C>G |
p.I2058M |
Missense |
36/52 |
- |
1 |
12-5994501-T-G |
c.6170A>C |
p.H2057P |
Missense |
36/52 |
- |
1 |
12-5994508-G-A |
c.6163C>T |
p.L2055F |
Missense |
36/52 |
- |
1 |
12-5994509-G-T |
c.6162C>A |
p.H2054Q |
Missense |
36/52 |
- |
1 |
12-5994519-C-T |
c.6152G>A |
p.R2051K |
Missense |
36/52 |
- |
2 |
12-5994520-T-A |
c.6151A>T |
p.R2051* |
Nonsense |
36/52 |
- |
1 |
12-5994520-T-G |
c.6151A>C |
p.R2051= |
Synonymous |
36/52 |
- |
2 |
12-5994530-C-A |
c.6141G>T |
p.M2047I |
Missense |
36/52 |
- |
1 |
12-5994530-C-G |
c.6141G>C |
p.M2047I |
Missense |
36/52 |
- |
1 |
12-5994530-C-T |
c.6141G>A |
p.M2047I |
Missense |
36/52 |
- |
1 |
12-5994533-G-C |
c.6138C>G |
p.I2046M |
Missense |
36/52 |
- |
1 |
12-5994535-T-C |
c.6136A>G |
p.I2046V |
Missense |
36/52 |
- |
1 |
12-5994540-C-A |
c.6131G>T |
p.G2044V |
Missense |
36/52 |
- |
1 |
12-5994548-CG-C |
c.6123del |
p.N2041Kfs*58 |
Frameshift |
36/52 |
- |
1 |
12-5994548-G-A |
c.6123C>T |
p.N2041= |
Synonymous |
36/52 |
- |
2 |
12-5994548-G-T |
c.6123C>A |
p.N2041K |
Missense |
36/52 |
- |
1 |
12-5994549-T-C |
c.6122A>G |
p.N2041S |
Missense |
36/52 |
- |
1 |
12-5994553-C-A |
c.6118G>T |
p.V2040F |
Missense |
36/52 |
- |
1 |
12-5994553-C-T |
c.6118G>A |
p.V2040I |
Missense |
36/52 |
- |
1 |
12-5994557-C-T |
c.6114G>A |
p.M2038I |
Missense |
36/52 |
- |
1 |
12-5994559-T-C |
c.6112A>G |
p.M2038V |
Missense |
36/52 |
- |
1 |
12-5994561-T-C |
c.6110A>G |
p.N2037S |
Missense |
36/52 |
- |
1 |
12-5994567-C-T |
c.6104G>A |
p.G2035D |
Missense |
36/52 |
- |
4 |
12-5994568-C-A |
c.6103G>T |
p.G2035C |
Missense |
36/52 |
- |
1 |
12-5994571-C-A |
c.6100G>T |
p.V2034L |
Missense |
36/52 |
- |
1 |
12-5994571-C-G |
c.6100G>C |
p.V2034L |
Missense |
36/52 |
- |
1 |
12-5994571-C-T |
c.6100G>A |
p.V2034M |
Missense |
36/52 |
- |
1 |
12-5994572-G-A |
c.6099C>T |
p.Y2033= |
Synonymous |
36/52 |
- |
3 |
12-5994572-G-C |
c.6099C>G |
p.Y2033* |
Nonsense |
36/52 |
- |
1 |
12-5994574-A-T |
c.6097T>A |
p.Y2033N |
Missense |
36/52 |
- |
1 |
12-5994576-G-T |
c.6095C>A |
p.P2032H |
Missense |
36/52 |
- |
1 |
12-5994577-G-A |
c.6094C>T |
p.P2032S |
Missense |
36/52 |
- |
4 |
12-5994578-A-C |
c.6093T>G |
p.V2031= |
Synonymous |
36/52 |
- |
1 |
12-5994585-A-G |
c.6086T>C |
p.V2029A |
Missense |
36/52 |
- |
1 |
12-5994595-C-A |
c.6076G>T |
p.G2026W |
Missense |
36/52 |
- |
1 |
12-5994597-T-A |
c.6074A>T |
p.N2025I |
Missense |
36/52 |
- |
1 |
12-5994597-T-C |
c.6074A>G |
p.N2025S |
Missense |
36/52 |
- |
1 |
12-5994598-T-TGCGATGACTACAAC |
c.6072_6073insGTTGTAGTCATCGC |
p.N2025Vfs*79 |
Frameshift |
36/52 |
- |
1 |
12-5994599-CAC-GAT |
c.6070_6072delinsATC |
p.V2024I |
Missense |
36/52 |
- |
2 |
12-5994603-G-A |
c.6068C>T |
p.T2023M |
Missense |
36/52 |
- |
2 |
12-5994604-T-C |
c.6067A>G |
p.T2023A |
Missense |
36/52 |
- |
1 |
12-5994605-C-T |
c.6066G>A |
p.V2022= |
Synonymous |
36/52 |
- |
1 |
12-5994607-C-T |
c.6064G>A |
p.V2022M |
Missense |
36/52 |
- |
1 |
12-5994657-T-C |
c.6064-50A>G |
- |
IntronicSNV |
- |
35/51 |
1 |
12-5994678-G-A |
c.6064-71C>T |
- |
IntronicSNV |
- |
35/51 |
1 |
12-5994832-C-T |
c.6064-225G>A |
- |
IntronicSNV |
- |
35/51 |
2 |
12-5995702-G-A |
c.6063+300C>T |
- |
IntronicSNV |
- |
35/51 |
2 |
12-5995977-C-T |
c.6063+25G>A |
- |
IntronicSNV |
- |
35/51 |
7 |
12-5996001-C-T |
c.6063+1G>A |
- |
IntronicSNV |
- |
35/51 |
1 |
12-5996007-T-C |
c.6058A>G |
p.M2020V |
Missense |
35/52 |
- |
1 |
12-5996007-T-G |
c.6058A>C |
p.M2020L |
Missense |
35/52 |
- |
1 |
12-5996008-G-A |
c.6057C>T |
p.D2019= |
Synonymous |
35/52 |
- |
1 |
12-5996009-T-C |
c.6056A>G |
p.D2019G |
Missense |
35/52 |
- |
1 |
12-5996012-C-T |
c.6053G>A |
p.S2018N |
Missense |
35/52 |
- |
1 |
12-5996013-T-C |
c.6052A>G |
p.S2018G |
Missense |
35/52 |
- |
1 |
12-5996014-G-C |
c.6051C>G |
p.H2017Q |
Missense |
35/52 |
- |
1 |
12-5996014-G-T |
c.6051C>A |
p.H2017Q |
Missense |
35/52 |
- |
1 |
12-5996014-TG-T |
c.6051del |
p.H2017Qfs*6 |
Frameshift |
35/52 |
- |
1 |
12-5996020-C-A |
c.6045G>T |
p.E2015D |
Missense |
35/52 |
- |
1 |
12-5996020-C-G |
c.6045G>C |
p.E2015D |
Missense |
35/52 |
- |
1 |
12-5996025-C-A |
c.6040G>T |
p.V2014F |
Missense |
35/52 |
- |
2 |
12-5996025-C-T |
c.6040G>A |
p.V2014I |
Missense |
35/52 |
- |
1 |
12-5996026-G-A |
c.6039C>T |
p.S2013= |
Synonymous |
35/52 |
- |
1 |
12-5996026-G-T |
c.6039C>A |
p.S2013= |
Synonymous |
35/52 |
- |
2 |
12-5996027-G-A |
c.6038C>T |
p.S2013F |
Missense |
35/52 |
- |
2 |
12-5996030-A-G |
c.6035T>C |
p.L2012P |
Missense |
35/52 |
- |
1 |
12-5996033-G-C |
c.6032C>G |
p.A2011G |
Missense |
35/52 |
- |
1 |
12-5996033-G-T |
c.6032C>A |
p.A2011D |
Missense |
35/52 |
- |
1 |
12-5996036-C-T |
c.6029G>A |
p.S2010N |
Missense |
35/52 |
- |
1 |
12-5996038-G-C |
c.6027C>G |
p.H2009Q |
Missense |
35/52 |
- |
2 |
12-5996038-G-T |
c.6027C>A |
p.H2009Q |
Missense |
35/52 |
- |
4 |
12-5996040-G-A |
c.6025C>T |
p.H2009Y |
Missense |
35/52 |
- |
1 |
12-5996042-T-C |
c.6023A>G |
p.K2008R |
Missense |
35/52 |
- |
1 |
12-5996045-A-C |
c.6020T>G |
p.V2007G |
Missense |
35/52 |
- |
1 |
12-5996049-C-T |
c.6016G>A |
p.E2006K |
Missense |
35/52 |
- |
1 |
12-5996050-G-C |
c.6015C>G |
p.I2005M |
Missense |
35/52 |
- |
3 |
12-5996052-T-C |
c.6013A>G |
p.I2005V |
Missense |
35/52 |
- |
1 |
12-5996058-T-A |
c.6007A>T |
p.K2003* |
Nonsense |
35/52 |
- |
1 |
12-5996069-T-C |
c.5996A>G |
p.Q1999R |
Missense |
35/52 |
- |
1 |
12-5996070-G-A |
c.5995C>T |
p.Q1999* |
Nonsense |
35/52 |
- |
2 |
12-5996071-GCCTT-G |
c.5991_5994del |
p.Q1999Afs*3 |
Frameshift |
35/52 |
- |
1 |
12-5996075-G-C |
c.5990C>G |
p.A1997G |
Missense |
35/52 |
- |
2 |
12-5996076-C-A |
c.5989G>T |
p.A1997S |
Missense |
35/52 |
- |
1 |
12-5996076-C-T |
c.5989G>A |
p.A1997T |
Missense |
35/52 |
- |
1 |
12-5996078-C-CAAGG |
c.5986_5987insCCTT |
p.G1996Afs*25 |
Frameshift |
35/52 |
- |
1 |
12-5996078-C-T |
c.5987G>A |
p.G1996E |
Missense |
35/52 |
- |
4 |
12-5996083-G-GA |
c.5981_5982insT |
p.G1996Wfs*24 |
Frameshift |
35/52 |
- |
1 |
12-5996089-G-T |
c.5976C>A |
p.A1992= |
Synonymous |
35/52 |
- |
1 |
12-5996091-C-A |
c.5974G>T |
p.A1992S |
Missense |
35/52 |
- |
1 |
12-5996092-A-G |
c.5973T>C |
p.G1991= |
Synonymous |
35/52 |
- |
1 |
12-5996099-T-C |
c.5966A>G |
p.H1989R |
Missense |
35/52 |
- |
1 |
12-5996100-G-A |
c.5965C>T |
p.H1989Y |
Missense |
35/52 |
- |
2 |
12-5996100-G-C |
c.5965C>G |
p.H1989D |
Missense |
35/52 |
- |
2 |
12-5996101-G-A |
c.5964C>T |
p.L1988= |
Synonymous |
35/52 |
- |
4 |
12-5996103-G-T |
c.5962C>A |
p.L1988I |
Missense |
35/52 |
- |
1 |
12-5996107-C-T |
c.5958G>A |
p.V1986= |
Synonymous |
35/52 |
- |
4 |
12-5996108-A-G |
c.5957T>C |
p.V1986A |
Missense |
35/52 |
- |
1 |
12-5996112-C-A |
c.5953G>T |
p.E1985* |
Nonsense |
35/52 |
- |
3 |
12-5996116-G-A |
c.5949C>T |
p.D1983= |
Synonymous |
35/52 |
- |
1 |
12-5996120-T-C |
c.5945A>G |
p.Q1982R |
Missense |
35/52 |
- |
1 |
12-5996122-C-T |
c.5943G>A |
p.E1981= |
Synonymous |
35/52 |
- |
1 |
12-5996124-C-A |
c.5941G>T |
p.E1981* |
Nonsense |
35/52 |
- |
2 |
12-5996124-C-T |
c.5941G>A |
p.E1981K |
Missense |
35/52 |
- |
4 |
12-5996129-T-C |
c.5936A>G |
p.N1979S |
Missense |
35/52 |
- |
1 |
12-5996131-T-C |
c.5934A>G |
p.Q1978= |
Synonymous |
35/52 |
- |
1 |
12-5996133-G-A |
c.5932C>T |
p.Q1978* |
Nonsense |
35/52 |
- |
4 |
12-5996142-C-T |
c.5923G>A |
p.V1975I |
Missense |
35/52 |
- |
1 |
12-5996143-A-T |
c.5922T>A |
p.Y1974* |
Nonsense |
35/52 |
- |
1 |
12-5996144-T-C |
c.5921A>G |
p.Y1974C |
Missense |
35/52 |
- |
1 |
12-5996148-A-G |
c.5917T>C |
p.S1973P |
Missense |
35/52 |
- |
1 |
12-5996150-CA-GC |
c.5914_5915delinsGC |
p.C1972A |
Missense |
35/52 |
- |
1 |
12-5996152-G-C |
c.5913C>G |
p.S1971R |
Missense |
35/52 |
- |
2 |
12-5996152-G-T |
c.5913C>A |
p.S1971R |
Missense |
35/52 |
- |
1 |
12-5996154-T-G |
c.5911A>C |
p.S1971R |
Missense |
35/52 |
- |
1 |
12-5996155-G-A |
c.5910C>T |
p.G1970= |
Synonymous |
35/52 |
- |
1 |
12-5996155-G-C |
c.5910C>G |
p.G1970= |
Synonymous |
35/52 |
- |
1 |
12-5996155-G-T |
c.5910C>A |
p.G1970= |
Synonymous |
35/52 |
- |
3 |
12-5996156-C-G |
c.5909G>C |
p.G1970A |
Missense |
35/52 |
- |
1 |
12-5996156-C-T |
c.5909G>A |
p.G1970D |
Missense |
35/52 |
- |
1 |
12-5996157-C-T |
c.5908G>A |
p.G1970S |
Missense |
35/52 |
- |
1 |
12-5996165-T-G |
c.5900A>C |
p.K1967T |
Missense |
35/52 |
- |
1 |
12-5996167-G-A |
c.5898C>T |
p.F1966= |
Synonymous |
35/52 |
- |
2 |
12-5996173-C-T |
c.5892G>A |
p.Q1964= |
Synonymous |
35/52 |
- |
1 |
12-5996174-T-C |
c.5891A>G |
p.Q1964R |
Missense |
35/52 |
- |
1 |
12-5996181-C-A |
c.5884G>T |
p.D1962Y |
Missense |
35/52 |
- |
1 |
12-5996190-C-A |
c.5875G>T |
p.V1959L |
Missense |
35/52 |
- |
1 |
12-5996190-C-G |
c.5875G>C |
p.V1959L |
Missense |
35/52 |
- |
1 |
12-5996190-C-T |
c.5875G>A |
p.V1959M |
Missense |
35/52 |
- |
3 |
12-5996191-G-A |
c.5874C>T |
p.I1958= |
Synonymous |
35/52 |
- |
1 |
12-5996191-G-T |
c.5874C>A |
p.I1958= |
Synonymous |
35/52 |
- |
1 |
12-5996193-T-A |
c.5872A>T |
p.I1958F |
Missense |
35/52 |
- |
1 |
12-5996193-T-C |
c.5872A>G |
p.I1958V |
Missense |
35/52 |
- |
1 |
12-5996195-T-G |
c.5870A>C |
p.H1957P |
Missense |
35/52 |
- |
1 |
12-5996198-CG-TT |
c.5866_5867delinsAA |
p.R1956K |
Missense |
35/52 |
- |
1 |
12-5996198-C-T |
c.5867G>A |
p.R1956Q |
Missense |
35/52 |
- |
2 |
12-5996199-G-A |
c.5866C>T |
p.R1956W |
Missense |
35/52 |
- |
1 |
12-5996203-G-A |
c.5862C>T |
p.S1954= |
Synonymous |
35/52 |
- |
1 |
12-5996203-G-C |
c.5862C>G |
p.S1954= |
Synonymous |
35/52 |
- |
2 |
12-5996203-G-T |
c.5862C>A |
p.S1954= |
Synonymous |
35/52 |
- |
1 |
12-5996204-G-A |
c.5861C>T |
p.S1954F |
Missense |
35/52 |
- |
1 |
12-5996207-C-T |
c.5858G>A |
p.S1953N |
Missense |
35/52 |
- |
3 |
12-5996210-C-G |
c.5855G>C |
p.G1952A |
Missense |
35/52 |
- |
1 |
12-5996211-C-G |
c.5854G>C |
p.G1952R |
Missense |
35/52 |
- |
1 |
12-5996214-T-C |
c.5851A>G |
p.T1951A |
Missense |
35/52 |
- |
4 |
12-5996215-G-A |
c.5850C>T |
p.C1950= |
Synonymous |
35/52 |
- |
1 |
12-5996217-A-G |
c.5848T>C |
p.C1950R |
Missense |
35/52 |
- |
1 |
12-5996221-G-A |
c.5844C>T |
p.C1948= |
Synonymous |
35/52 |
- |
27 |
12-5996230-G-C |
c.5843-8C>G |
- |
IntronicSNV |
- |
34/51 |
6 |
12-5996333-T-A |
c.5843-111A>T |
- |
IntronicSNV |
- |
34/51 |
6 |
12-5996333-T-C |
c.5843-111A>G |
- |
IntronicSNV |
- |
34/51 |
6 |
12-5996852-T-C |
c.5843-630A>G |
- |
IntronicSNV |
- |
34/51 |
2 |
12-5997089-C-A |
c.5843-867G>T |
- |
IntronicSNV |
- |
34/51 |
1 |
12-5997089-C-T |
c.5843-867G>A |
- |
IntronicSNV |
- |
34/51 |
1 |
12-6002310-A-G |
c.5843-6088T>C |
- |
IntronicSNV |
- |
34/51 |
2 |
12-6002310-A-T |
c.5843-6088T>A |
- |
IntronicSNV |
- |
34/51 |
2 |
12-6005478-T-A |
c.5842+6139A>T |
- |
IntronicSNV |
- |
34/51 |
1 |
12-6005478-T-C |
c.5842+6139A>G |
- |
IntronicSNV |
- |
34/51 |
1 |
12-6007291-A-G |
c.5842+4326T>C |
- |
IntronicSNV |
- |
34/51 |
1 |
12-6010620-ACATCCATAGAAGAACAGTTGGGTAACCTATGGTACACAGTGAAGTATTAGGAAGCTCTC-A |
c.5842+939_5842+997del |
- |
Unclassified |
- |
34/51 |
1 |
12-6011586-G-A |
c.5842+31C>T |
- |
IntronicSNV |
- |
34/51 |
2 |
12-6011612-C-T |
c.5842+5G>A |
- |
IntronicSNV |
- |
34/51 |
1 |
12-6011616-C-G |
c.5842+1G>C |
- |
IntronicSNV |
- |
34/51 |
3 |
12-6011617-CAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTA-C |
c.5784_5842del |
p.N1929Rfs*14 |
Unclassified |
34/52 |
- |
6 |
12-6011622-C-A |
c.5837G>T |
p.C1946F |
Missense |
34/52 |
- |
1 |
12-6011627-C-T |
c.5832G>A |
p.W1944* |
Nonsense |
34/52 |
- |
1 |
12-6011628-C-T |
c.5831G>A |
p.W1944* |
Nonsense |
34/52 |
- |
1 |
12-6011631-C-T |
c.5828G>A |
p.R1943H |
Missense |
34/52 |
- |
2 |
12-6011643-G-A |
c.5816C>T |
p.T1939I |
Missense |
34/52 |
- |
1 |
12-6011644-T-G |
c.5815A>C |
p.T1939P |
Missense |
34/52 |
- |
1 |
12-6011647-C-T |
c.5812G>A |
p.E1938K |
Missense |
34/52 |
- |
1 |
12-6011650-C-T |
c.5809G>A |
p.E1937K |
Missense |
34/52 |
- |
2 |
12-6011651-C-A |
c.5808G>T |
p.V1936= |
Synonymous |
34/52 |
- |
1 |
12-6011651-C-G |
c.5808G>C |
p.V1936= |
Synonymous |
34/52 |
- |
1 |
12-6011651-C-T |
c.5808G>A |
p.V1936= |
Synonymous |
34/52 |
- |
1 |
12-6011658-A-C |
c.5801T>G |
p.V1934G |
Missense |
34/52 |
- |
2 |
12-6011659-C-T |
c.5800G>A |
p.V1934I |
Missense |
34/52 |
- |
1 |
12-6011661-G-A |
c.5798C>T |
p.P1933L |
Missense |
34/52 |
- |
3 |
12-6011661-G-T |
c.5798C>A |
p.P1933H |
Missense |
34/52 |
- |
1 |
12-6011662-G-A |
c.5797C>T |
p.P1933S |
Missense |
34/52 |
- |
3 |
12-6011666-C-G |
c.5793G>C |
p.Q1931H |
Missense |
34/52 |
- |
1 |
12-6011668-G-A |
c.5791C>T |
p.Q1931* |
Nonsense |
34/52 |
- |
1 |
12-6011669-G-C |
c.5790C>G |
p.S1930R |
Missense |
34/52 |
- |
1 |
12-6011674-T-A |
c.5785A>T |
p.N1929Y |
Missense |
34/52 |
- |
1 |
12-6011678-G-A |
c.5781C>T |
p.C1927= |
Synonymous |
34/52 |
- |
1 |
12-6011679-C-G |
c.5780G>C |
p.C1927S |
Missense |
34/52 |
- |
2 |
12-6011680-A-G |
c.5779T>C |
p.C1927R |
Missense |
34/52 |
- |
2 |
12-6011680-A-T |
c.5779T>A |
p.C1927S |
Missense |
34/52 |
- |
3 |
12-6011691-A-G |
c.5768T>C |
p.L1923P |
Missense |
34/52 |
- |
1 |
12-6011694-C-G |
c.5765G>C |
p.G1922A |
Missense |
34/52 |
- |
1 |
12-6011694-C-T |
c.5765G>A |
p.G1922E |
Missense |
34/52 |
- |
3 |
12-6011696-C-T |
c.5763G>A |
p.R1921= |
Synonymous |
34/52 |
- |
4 |
12-6011697-C-T |
c.5762G>A |
p.R1921Q |
Missense |
34/52 |
- |
2 |
12-6011698-G-A |
c.5761C>T |
p.R1921W |
Missense |
34/52 |
- |
2 |
12-6011701-C-T |
c.5758G>A |
p.D1920N |
Missense |
34/52 |
- |
2 |
12-6011703-C-G |
c.5756G>C |
p.C1919S |
Missense |
34/52 |
- |
2 |
12-6011704-A-T |
c.5755T>A |
p.C1919S |
Missense |
34/52 |
- |
2 |
12-6011708-G-A |
c.5751C>T |
p.V1917= |
Synonymous |
34/52 |
- |
1 |
12-6011708-G-C |
c.5751C>G |
p.V1917= |
Synonymous |
34/52 |
- |
1 |
12-6011708-G-T |
c.5751C>A |
p.V1917= |
Synonymous |
34/52 |
- |
2 |
12-6011709-GA-G |
c.5750del |
p.V1917Afs*7 |
Frameshift |
34/52 |
- |
1 |
12-6011712-C-T |
c.5747G>A |
p.R1916Q |
Missense |
34/52 |
- |
1 |
12-6011720-C-G |
c.5739G>C |
p.K1913N |
Missense |
34/52 |
- |
1 |
12-6011720-C-T |
c.5739G>A |
p.K1913= |
Synonymous |
34/52 |
- |
1 |
12-6011729-G-A |
c.5730C>T |
p.T1910= |
Synonymous |
34/52 |
- |
1 |
12-6011730-G-A |
c.5729C>T |
p.T1910I |
Missense |
34/52 |
- |
1 |
12-6011730-GT-CA |
c.5728_5729delinsTG |
p.T1910C |
Missense |
34/52 |
- |
1 |
12-6011734-G-T |
c.5725C>A |
p.Q1909K |
Missense |
34/52 |
- |
1 |
12-6011764-A-G |
c.5695T>C |
p.C1899R |
Missense |
34/52 |
- |
1 |
12-6011765-C-G |
c.5694G>C |
p.Q1898H |
Missense |
34/52 |
- |
1 |
12-6011772-G-T |
c.5687C>A |
p.P1896Q |
Missense |
34/52 |
- |
1 |
12-6011776-A-C |
c.5683T>G |
p.L1895V |
Missense |
34/52 |
- |
1 |
12-6011777-G-A |
c.5682C>T |
p.T1894= |
Synonymous |
34/52 |
- |
1 |
12-6011777-G-C |
c.5682C>G |
p.T1894= |
Synonymous |
34/52 |
- |
1 |
12-6011777-G-T |
c.5682C>A |
p.T1894= |
Synonymous |
34/52 |
- |
1 |
12-6011785-C-A |
c.5674G>T |
p.V1892F |
Missense |
34/52 |
- |
1 |
12-6011788-C-A |
c.5671G>T |
p.D1891Y |
Missense |
34/52 |
- |
1 |
12-6011789-C-T |
c.5670G>A |
p.G1890= |
Synonymous |
34/52 |
- |
1 |
12-6011791-C-G |
c.5668G>C |
p.G1890R |
Missense |
34/52 |
- |
1 |
12-6011791-C-T |
c.5668G>A |
p.G1890R |
Missense |
34/52 |
- |
1 |
12-6011792-G-A |
c.5667C>T |
p.P1889= |
Synonymous |
34/52 |
- |
2 |
12-6011792-G-C |
c.5667C>G |
p.P1889= |
Synonymous |
34/52 |
- |
1 |
12-6011792-G-T |
c.5667C>A |
p.P1889= |
Synonymous |
34/52 |
- |
1 |
12-6011912-C-T |
c.5665-118G>A |
- |
IntronicSNV |
- |
33/51 |
7 |
12-6011949-C-T |
c.5664+138G>A |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6011959-C-A |
c.5664+128G>T |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6011959-C-G |
c.5664+128G>C |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6011959-C-T |
c.5664+128G>A |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6011981-A-G |
c.5664+106T>C |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6012024-TG-T |
c.5664+62del |
- |
IntronicDeletion |
- |
33/51 |
1 |
12-6012054-C-T |
c.5664+33G>A |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6012072-C-T |
c.5664+15G>A |
- |
IntronicSNV |
- |
33/51 |
1 |
12-6012085-A-G |
c.5664+2T>C |
- |
IntronicSNV |
- |
33/51 |
2 |
12-6012090-C-A |
c.5661G>T |
p.K1887N |
Missense |
33/52 |
- |
1 |
12-6012105-C-T |
c.5646G>A |
p.E1882= |
Synonymous |
33/52 |
- |
1 |
12-6012110-C-T |
c.5641G>A |
p.D1881N |
Missense |
33/52 |
- |
1 |
12-6012115-C-A |
c.5636G>T |
p.C1879F |
Missense |
33/52 |
- |
1 |
12-6012120-C-T |
c.5631G>A |
p.R1877= |
Synonymous |
33/52 |
- |
2 |
12-6012123-AAC-CAT |
c.5626_5628delinsATG |
p.V1876M |
Missense |
33/52 |
- |
1 |
12-6012125-C-G |
c.5626G>C |
p.V1876L |
Missense |
33/52 |
- |
1 |
12-6013151-G-A |
c.5620+330C>T |
- |
IntronicSNV |
- |
32/51 |
1 |
12-6013392-G-A |
c.5620+89C>T |
- |
IntronicSNV |
- |
32/51 |
1 |
12-6013462-A-C |
c.5620+19T>G |
- |
IntronicSNV |
- |
32/51 |
1 |
12-6013479-A-C |
c.5620+2T>G |
- |
IntronicSNV |
- |
32/51 |
1 |
12-6013481-C-A |
c.5620G>T |
p.G1874* |
Nonsense |
32/52 |
- |
1 |
12-6013482-CAGAGCACAGTTTGTGGAGGAAGGAATTGCCCAAGGTGACCATGGTAGGGAGGTCTTCGA-C |
c.5561_5619del |
p.I1854Rfs*4 |
Unclassified |
32/52 |
- |
1 |
12-6013483-G-C |
c.5618C>G |
p.S1873C |
Missense |
32/52 |
- |
1 |
12-6013494-G-A |
c.5607C>T |
p.H1869= |
Synonymous |
32/52 |
- |
2 |
12-6013503-G-A |
c.5598C>T |
p.S1866= |
Synonymous |
32/52 |
- |
1 |
12-6013504-G-A |
c.5597C>T |
p.S1866F |
Missense |
32/52 |
- |
2 |
12-6013505-A-G |
c.5596T>C |
p.S1866P |
Missense |
32/52 |
- |
3 |
12-6013508-T-C |
c.5593A>G |
p.N1865D |
Missense |
32/52 |
- |
1 |
12-6013510-C-T |
c.5591G>A |
p.G1864D |
Missense |
32/52 |
- |
3 |
12-6013511-C-G |
c.5590G>C |
p.G1864R |
Missense |
32/52 |
- |
1 |
12-6013511-C-T |
c.5590G>A |
p.G1864S |
Missense |
32/52 |
- |
1 |
12-6013512-C-A |
c.5589G>T |
p.L1863F |
Missense |
32/52 |
- |
1 |
12-6013516-G-C |
c.5585C>G |
p.T1862S |
Missense |
32/52 |
- |
1 |
12-6013517-T-A |
c.5584A>T |
p.T1862S |
Missense |
32/52 |
- |
1 |
12-6013517-T-C |
c.5584A>G |
p.T1862A |
Missense |
32/52 |
- |
1 |
12-6013520-C-A |
c.5581G>T |
p.V1861F |
Missense |
32/52 |
- |
2 |
12-6013520-C-T |
c.5581G>A |
p.V1861I |
Missense |
32/52 |
- |
1 |
12-6013523-T-C |
c.5578A>G |
p.M1860V |
Missense |
32/52 |
- |
1 |
12-6013524-G-T |
c.5577C>A |
p.T1859= |
Synonymous |
32/52 |
- |
1 |
12-6013528-G-A |
c.5573C>T |
p.P1858L |
Missense |
32/52 |
- |
1 |
12-6013529-G-A |
c.5572C>T |
p.P1858S |
Missense |
32/52 |
- |
1 |
12-6013538-C-A |
c.5563G>T |
p.E1855* |
Nonsense |
32/52 |
- |
1 |
12-6013538-C-T |
c.5563G>A |
p.E1855K |
Missense |
32/52 |
- |
5 |
12-6013543-C-T |
c.5558G>A |
p.R1853Q |
Missense |
32/52 |
- |
7 |
12-6013544-G-A |
c.5557C>T |
p.R1853* |
Nonsense |
32/52 |
- |
9 |
12-6013546-T-C |
c.5555A>G |
p.Q1852R |
Missense |
32/52 |
- |
1 |
12-6013550-G-A |
c.5551C>T |
p.L1851F |
Missense |
32/52 |
- |
3 |
12-6013551-C-T |
c.5550G>A |
p.K1850= |
Synonymous |
32/52 |
- |
1 |
12-6013557-C-T |
c.5544G>A |
p.V1848= |
Synonymous |
32/52 |
- |
1 |
12-6013559-C-T |
c.5542G>A |
p.V1848M |
Missense |
32/52 |
- |
5 |
12-6013560-G-A |
c.5541C>T |
p.N1847= |
Synonymous |
32/52 |
- |
5 |
12-6013562-T-C |
c.5539A>G |
p.N1847D |
Missense |
32/52 |
- |
2 |
12-6013563-G-A |
c.5538C>T |
p.S1846= |
Synonymous |
32/52 |
- |
5 |
12-6013563-G-C |
c.5538C>G |
p.S1846= |
Synonymous |
32/52 |
- |
1 |
12-6013563-G-T |
c.5538C>A |
p.S1846= |
Synonymous |
32/52 |
- |
1 |
12-6013567-T-C |
c.5534A>G |
p.D1845G |
Missense |
32/52 |
- |
1 |
12-6013568-C-T |
c.5533G>A |
p.D1845N |
Missense |
32/52 |
- |
2 |
12-6013569-G-A |
c.5532C>T |
p.G1844= |
Synonymous |
32/52 |
- |
4 |
12-6013569-G-C |
c.5532C>G |
p.G1844= |
Synonymous |
32/52 |
- |
3 |
12-6013569-G-T |
c.5532C>A |
p.G1844= |
Synonymous |
32/52 |
- |
3 |
12-6013573-G-T |
c.5528C>A |
p.A1843E |
Missense |
32/52 |
- |
4 |
12-6013574-C-T |
c.5527G>A |
p.A1843T |
Missense |
32/52 |
- |
1 |
12-6013577-G-A |
c.5524C>T |
p.P1842S |
Missense |
32/52 |
- |
1 |
12-6013580-C-CT |
c.5520dup |
p.G1841Rfs*37 |
Frameshift |
32/52 |
- |
1 |
12-6013583-C-A |
c.5518G>T |
p.A1840S |
Missense |
32/52 |
- |
1 |
12-6013583-C-T |
c.5518G>A |
p.A1840T |
Missense |
32/52 |
- |
2 |
12-6013591-C-T |
c.5510G>A |
p.R1837Q |
Missense |
32/52 |
- |
7 |
12-6013592-G-A |
c.5509C>T |
p.R1837W |
Missense |
32/52 |
- |
3 |
12-6013599-G-A |
c.5502C>T |
p.A1834= |
Synonymous |
32/52 |
- |
1 |
12-6013600-G-A |
c.5501C>T |
p.A1834V |
Missense |
32/52 |
- |
4 |
12-6013603-G-A |
c.5498C>T |
p.A1833V |
Missense |
32/52 |
- |
3 |
12-6013604-C-G |
c.5497G>C |
p.A1833P |
Missense |
32/52 |
- |
1 |
12-6013605-A-G |
c.5496T>C |
p.D1832= |
Synonymous |
32/52 |
- |
3 |
12-6013606-T-C |
c.5495A>G |
p.D1832G |
Missense |
32/52 |
- |
7 |
12-6013607-C-T |
c.5494G>A |
p.D1832N |
Missense |
32/52 |
- |
2 |
12-6013608-G-A |
c.5493C>T |
p.Y1831= |
Synonymous |
32/52 |
- |
4 |
12-6013609-T-C |
c.5492A>G |
p.Y1831C |
Missense |
32/52 |
- |
2 |
12-6013612-C-T |
c.5489G>A |
p.R1830H |
Missense |
32/52 |
- |
2 |
12-6013613-G-A |
c.5488C>T |
p.R1830C |
Missense |
32/52 |
- |
7 |
12-6013613-G-T |
c.5488C>A |
p.R1830S |
Missense |
32/52 |
- |
1 |
12-6013619-C-T |
c.5482G>A |
p.G1828R |
Missense |
32/52 |
- |
2 |
12-6013624-C-G |
c.5477G>C |
p.G1826A |
Missense |
32/52 |
- |
1 |
12-6013625-C-T |
c.5476G>A |
p.G1826R |
Missense |
32/52 |
- |
1 |
12-6013628-T-A |
c.5473A>T |
p.I1825F |
Missense |
32/52 |
- |
4 |
12-6013630-G-C |
c.5471C>G |
p.P1824R |
Missense |
32/52 |
- |
2 |
12-6013630-G-T |
c.5471C>A |
p.P1824H |
Missense |
32/52 |
- |
5 |
12-6013631-G-A |
c.5470C>T |
p.P1824S |
Missense |
32/52 |
- |
2 |
12-6013635-CA-GT |
c.5465_5466delinsAC |
p.V1822D |
Missense |
32/52 |
- |
1 |
12-6013636-A-C |
c.5465T>G |
p.V1822G |
Missense |
32/52 |
- |
4 |
12-6013636-A-T |
c.5465T>A |
p.V1822E |
Missense |
32/52 |
- |
1 |
12-6013642-A-T |
c.5459T>A |
p.V1820E |
Missense |
32/52 |
- |
1 |
12-6013645-C-T |
c.5456G>A |
p.R1819K |
Missense |
32/52 |
- |
5 |
12-6015890-T-C |
c.5455+199A>G |
- |
IntronicSNV |
- |
31/51 |
1 |
12-6016082-T-A |
c.5455+7A>T |
- |
IntronicSNV |
- |
31/51 |
1 |
12-6016087-A-G |
c.5455+2T>C |
- |
IntronicSNV |
- |
31/51 |
1 |
12-6016088-C-T |
c.5455+1G>A |
- |
IntronicSNV |
- |
31/51 |
1 |
12-6016091-T-C |
c.5453A>G |
p.N1818S |
Missense |
31/52 |
- |
1 |
12-6016100-G-A |
c.5444C>T |
p.A1815V |
Missense |
31/52 |
- |
1 |
12-6016102-G-A |
c.5442C>T |
p.A1814= |
Synonymous |
31/52 |
- |
2 |
12-6016102-G-C |
c.5442C>G |
p.A1814= |
Synonymous |
31/52 |
- |
1 |
12-6016102-G-T |
c.5442C>A |
p.A1814= |
Synonymous |
31/52 |
- |
1 |
12-6016104-C-T |
c.5440G>A |
p.A1814T |
Missense |
31/52 |
- |
1 |
12-6016107-C-A |
c.5437G>T |
p.D1813Y |
Missense |
31/52 |
- |
1 |
12-6016109-G-A |
c.5435C>T |
p.A1812V |
Missense |
31/52 |
- |
1 |
12-6016110-C-T |
c.5434G>A |
p.A1812T |
Missense |
31/52 |
- |
6 |
12-6016112-G-A |
c.5432C>T |
p.A1811V |
Missense |
31/52 |
- |
2 |
12-6016115-G-A |
c.5429C>T |
p.A1810V |
Missense |
31/52 |
- |
1 |
12-6016115-G-T |
c.5429C>A |
p.A1810E |
Missense |
31/52 |
- |
1 |
12-6016119-C-T |
c.5425G>A |
p.D1809N |
Missense |
31/52 |
- |
5 |
12-6016128-C-A |
c.5416G>T |
p.D1806Y |
Missense |
31/52 |
- |
1 |
12-6016128-C-T |
c.5416G>A |
p.D1806N |
Missense |
31/52 |
- |
2 |
12-6016129-C-T |
c.5415G>A |
p.V1805= |
Synonymous |
31/52 |
- |
2 |
12-6016131-C-T |
c.5413G>A |
p.V1805M |
Missense |
31/52 |
- |
1 |
12-6016140-C-T |
c.5404G>A |
p.D1802N |
Missense |
31/52 |
- |
5 |
12-6016141-C-A |
c.5403G>T |
p.T1801= |
Synonymous |
31/52 |
- |
1 |
12-6016141-C-G |
c.5403G>C |
p.T1801= |
Synonymous |
31/52 |
- |
1 |
12-6016141-C-T |
c.5403G>A |
p.T1801= |
Synonymous |
31/52 |
- |
2 |
12-6016147-C-A |
c.5397G>T |
p.L1799= |
Synonymous |
31/52 |
- |
1 |
12-6016147-C-G |
c.5397G>C |
p.L1799= |
Synonymous |
31/52 |
- |
1 |
12-6016147-C-T |
c.5397G>A |
p.L1799= |
Synonymous |
31/52 |
- |
1 |
12-6016149-G-A |
c.5395C>T |
p.L1799= |
Synonymous |
31/52 |
- |
5 |
12-6016149-G-T |
c.5395C>A |
p.L1799M |
Missense |
31/52 |
- |
2 |
12-6016150-G-A |
c.5394C>T |
p.I1798= |
Synonymous |
31/52 |
- |
4 |
12-6016153-G-A |
c.5391C>T |
p.V1797= |
Synonymous |
31/52 |
- |
4 |
12-6016153-G-C |
c.5391C>G |
p.V1797= |
Synonymous |
31/52 |
- |
3 |
12-6016153-G-T |
c.5391C>A |
p.V1797= |
Synonymous |
31/52 |
- |
4 |
12-6016154-A-G |
c.5390T>C |
p.V1797A |
Missense |
31/52 |
- |
1 |
12-6016156-C-T |
c.5388G>A |
p.V1796= |
Synonymous |
31/52 |
- |
1 |
12-6016159-C-A |
c.5385G>T |
p.A1795= |
Synonymous |
31/52 |
- |
1 |
12-6016159-C-G |
c.5385G>C |
p.A1795= |
Synonymous |
31/52 |
- |
1 |
12-6016159-C-T |
c.5385G>A |
p.A1795= |
Synonymous |
31/52 |
- |
1 |
12-6016160-G-A |
c.5384C>T |
p.A1795V |
Missense |
31/52 |
- |
5 |
12-6016164-T-C |
c.5380A>G |
p.K1794E |
Missense |
31/52 |
- |
3 |
12-6016173-C-A |
c.5371G>T |
p.G1791* |
Nonsense |
31/52 |
- |
1 |
12-6016173-C-G |
c.5371G>C |
p.G1791R |
Missense |
31/52 |
- |
1 |
12-6016174-C-A |
c.5370G>T |
p.P1790= |
Synonymous |
31/52 |
- |
1 |
12-6016174-C-G |
c.5370G>C |
p.P1790= |
Synonymous |
31/52 |
- |
1 |
12-6016174-C-T |
c.5370G>A |
p.P1790= |
Synonymous |
31/52 |
- |
1 |
12-6016175-G-A |
c.5369C>T |
p.P1790L |
Missense |
31/52 |
- |
3 |
12-6016176-G-A |
c.5368C>T |
p.P1790S |
Missense |
31/52 |
- |
2 |
12-6016177-C-G |
c.5367G>C |
p.R1789S |
Missense |
31/52 |
- |
1 |
12-6016181-G-T |
c.5363C>A |
p.A1788D |
Missense |
31/52 |
- |
1 |
12-6016185-C-T |
c.5359G>A |
p.G1787S |
Missense |
31/52 |
- |
1 |
12-6016186-A-G |
c.5358T>C |
p.H1786= |
Synonymous |
31/52 |
- |
2 |
12-6016187-TG-GC |
c.5356_5357delinsGC |
p.H1786A |
Missense |
31/52 |
- |
2 |
12-6016188-G-C |
c.5356C>G |
p.H1786D |
Missense |
31/52 |
- |
12 |
12-6016189-C-A |
c.5355G>T |
p.M1785I |
Missense |
31/52 |
- |
2 |
12-6016189-C-G |
c.5355G>C |
p.M1785I |
Missense |
31/52 |
- |
2 |
12-6016189-C-T |
c.5355G>A |
p.M1785I |
Missense |
31/52 |
- |
5 |
12-6016190-A-G |
c.5354T>C |
p.M1785T |
Missense |
31/52 |
- |
1 |
12-6016194-C-A |
c.5350G>T |
p.E1784* |
Nonsense |
31/52 |
- |
1 |
12-6016196-G-A |
c.5348C>T |
p.S1783L |
Missense |
31/52 |
- |
1 |
12-6016196-G-C |
c.5348C>G |
p.S1783* |
Nonsense |
31/52 |
- |
1 |
12-6016196-G-T |
c.5348C>A |
p.S1783* |
Nonsense |
31/52 |
- |
1 |
12-6016197-A-C |
c.5347T>G |
p.S1783A |
Missense |
31/52 |
- |
20 |
12-6016199-G-A |
c.5345C>T |
p.T1782I |
Missense |
31/52 |
- |
1 |
12-6016201-C-T |
c.5343G>A |
p.L1781= |
Synonymous |
31/52 |
- |
1 |
12-6016202-A-C |
c.5342T>G |
p.L1781W |
Missense |
31/52 |
- |
1 |
12-6016206-A-T |
c.5338T>A |
p.Y1780N |
Missense |
31/52 |
- |
1 |
12-6016208-C-A |
c.5336G>T |
p.R1779L |
Missense |
31/52 |
- |
2 |
12-6016208-C-T |
c.5336G>A |
p.R1779Q |
Missense |
31/52 |
- |
3 |
12-6016209-G-A |
c.5335C>T |
p.R1779* |
Nonsense |
31/52 |
- |
4 |
12-6016211-A-C |
c.5333T>G |
p.V1778G |
Missense |
31/52 |
- |
1 |
12-6016220-C-T |
c.5324G>A |
p.G1775D |
Missense |
31/52 |
- |
1 |
12-6016222-C-A |
c.5322G>T |
p.L1774F |
Missense |
31/52 |
- |
1 |
12-6016222-C-G |
c.5322G>C |
p.L1774F |
Missense |
31/52 |
- |
1 |
12-6016223-A-G |
c.5321T>C |
p.L1774S |
Missense |
31/52 |
- |
1 |
12-6016225-G-A |
c.5319C>T |
p.A1773= |
Synonymous |
31/52 |
- |
1 |
12-6016226-G-A |
c.5318C>T |
p.A1773V |
Missense |
31/52 |
- |
1 |
12-6016230-C-T |
c.5314G>A |
p.D1772N |
Missense |
31/52 |
- |
8 |
12-6016231-C-A |
c.5313G>T |
p.G1771= |
Synonymous |
31/52 |
- |
4 |
12-6016231-C-G |
c.5313G>C |
p.G1771= |
Synonymous |
31/52 |
- |
1 |
12-6016231-C-T |
c.5313G>A |
p.G1771= |
Synonymous |
31/52 |
- |
1 |
12-6016251-T-G |
c.5312-19A>C |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016255-G-A |
c.5312-23C>T |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016256-C-G |
c.5312-24G>C |
- |
IntronicSNV |
- |
30/51 |
2 |
12-6016256-C-T |
c.5312-24G>A |
- |
IntronicSNV |
- |
30/51 |
2 |
12-6016284-C-T |
c.5312-52G>A |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016295-C-T |
c.5312-63G>A |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016325-A-G |
c.5312-93T>C |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016430-T-C |
c.5311+86A>G |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016438-C-G |
c.5311+78G>C |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016510-C-T |
c.5311+6G>A |
- |
IntronicSNV |
- |
30/51 |
1 |
12-6016516-C-T |
c.5311G>A |
p.G1771R |
Missense |
30/52 |
- |
1 |
12-6016517-G-A |
c.5310C>T |
p.I1770= |
Synonymous |
30/52 |
- |
5 |
12-6016517-G-T |
c.5310C>A |
p.I1770= |
Synonymous |
30/52 |
- |
1 |
12-6016530-C-G |
c.5297G>C |
p.G1766A |
Missense |
30/52 |
- |
2 |
12-6016532-T-A |
c.5295A>T |
p.G1765= |
Synonymous |
30/52 |
- |
1 |
12-6016532-T-C |
c.5295A>G |
p.G1765= |
Synonymous |
30/52 |
- |
1 |
12-6016532-T-G |
c.5295A>C |
p.G1765= |
Synonymous |
30/52 |
- |
1 |
12-6016533-C-T |
c.5294G>A |
p.G1765E |
Missense |
30/52 |
- |
2 |
12-6016534-C-A |
c.5293G>T |
p.G1765* |
Nonsense |
30/52 |
- |
1 |
12-6016537-C-T |
c.5290G>A |
p.E1764K |
Missense |
30/52 |
- |
3 |
12-6016538-C-A |
c.5289G>T |
p.R1763= |
Synonymous |
30/52 |
- |
2 |
12-6016538-C-G |
c.5289G>C |
p.R1763= |
Synonymous |
30/52 |
- |
1 |
12-6016538-C-T |
c.5289G>A |
p.R1763= |
Synonymous |
30/52 |
- |
1 |
12-6016540-G-A |
c.5287C>T |
p.R1763W |
Missense |
30/52 |
- |
1 |
12-6016540-G-T |
c.5287C>A |
p.R1763= |
Synonymous |
30/52 |
- |
1 |
12-6016542-T-C |
c.5285A>G |
p.Q1762R |
Missense |
30/52 |
- |
2 |
12-6016545-A-T |
c.5282T>A |
p.M1761K |
Missense |
30/52 |
- |
3 |
12-6016549-C-T |
c.5278G>A |
p.V1760I |
Missense |
30/52 |
- |
11 |
12-6016550-G-A |
c.5277C>T |
p.D1759= |
Synonymous |
30/52 |
- |
5 |
12-6016553-C-G |
c.5274G>C |
p.V1758= |
Synonymous |
30/52 |
- |
1 |
12-6016555-C-G |
c.5272G>C |
p.V1758L |
Missense |
30/52 |
- |
1 |
12-6016555-C-T |
c.5272G>A |
p.V1758M |
Missense |
30/52 |
- |
1 |
12-6016557-AG-GC |
c.5269_5270delinsGC |
p.L1757A |
Missense |
30/52 |
- |
1 |
12-6016559-G-C |
c.5268C>G |
p.S1756R |
Missense |
30/52 |
- |
1 |
12-6016560-C-T |
c.5267G>A |
p.S1756N |
Missense |
30/52 |
- |
1 |
12-6016566-A-T |
c.5261T>A |
p.L1754* |
Nonsense |
30/52 |
- |
3 |
12-6016567-A-C |
c.5260T>G |
p.L1754V |
Missense |
30/52 |
- |
1 |
12-6016569-T-C |
c.5258A>G |
p.H1753R |
Missense |
30/52 |
- |
2 |
12-6016570-G-A |
c.5257C>T |
p.H1753Y |
Missense |
30/52 |
- |
1 |
12-6016572-G-T |
c.5255C>A |
p.A1752D |
Missense |
30/52 |
- |
2 |
12-6016573-C-T |
c.5254G>A |
p.A1752T |
Missense |
30/52 |
- |
1 |
12-6016577-C-A |
c.5250G>T |
p.E1750D |
Missense |
30/52 |
- |
1 |
12-6016577-C-G |
c.5250G>C |
p.E1750D |
Missense |
30/52 |
- |
1 |
12-6016579-C-T |
c.5248G>A |
p.E1750K |
Missense |
30/52 |
- |
2 |
12-6016580-C-A |
c.5247G>T |
p.P1749= |
Synonymous |
30/52 |
- |
1 |
12-6016580-C-G |
c.5247G>C |
p.P1749= |
Synonymous |
30/52 |
- |
1 |
12-6016580-C-T |
c.5247G>A |
p.P1749= |
Synonymous |
30/52 |
- |
3 |
12-6016582-G-A |
c.5245C>T |
p.P1749S |
Missense |
30/52 |
- |
2 |
12-6016582-G-T |
c.5245C>A |
p.P1749T |
Missense |
30/52 |
- |
1 |
12-6016583-G-A |
c.5244C>T |
p.V1748= |
Synonymous |
30/52 |
- |
2 |
12-6016585-C-A |
c.5242G>T |
p.V1748F |
Missense |
30/52 |
- |
1 |
12-6016588-C-T |
c.5239G>A |
p.V1747M |
Missense |
30/52 |
- |
1 |
12-6016592-C-A |
c.5235G>T |
p.W1745C |
Missense |
30/52 |
- |
18 |
12-6016592-C-G |
c.5235G>C |
p.W1745C |
Missense |
30/52 |
- |
18 |
12-6016593-C-T |
c.5234G>A |
p.W1745* |
Nonsense |
30/52 |
- |
1 |
12-6016601-G-A |
c.5226C>T |
p.D1742= |
Synonymous |
30/52 |
- |
3 |
12-6016602-T-A |
c.5225A>T |
p.D1742V |
Missense |
30/52 |
- |
1 |
12-6016602-T-G |
c.5225A>C |
p.D1742A |
Missense |
30/52 |
- |
1 |
12-6016603-C-T |
c.5224G>A |
p.D1742N |
Missense |
30/52 |
- |
2 |
12-6016604-A-G |
c.5223T>C |
p.I1741= |
Synonymous |
30/52 |
- |
1 |
12-6016605-A-G |
c.5222T>C |
p.I1741T |
Missense |
30/52 |
- |
1 |
12-6016606-T-A |
c.5221A>T |
p.I1741F |
Missense |
30/52 |
- |
1 |
12-6016607-G-A |
c.5220C>T |
p.T1740= |
Synonymous |
30/52 |
- |
2 |
12-6016609-T-C |
c.5218A>G |
p.T1740A |
Missense |
30/52 |
- |
1 |
12-6016610-G-T |
c.5217C>A |
p.T1739= |
Synonymous |
30/52 |
- |
1 |
12-6016614-A-G |
c.5213T>C |
p.I1738T |
Missense |
30/52 |
- |
1 |
12-6016619-TC-T |
c.5207del |
p.G1736Efs*20 |
Frameshift |
30/52 |
- |
1 |
12-6016621-C-T |
c.5206G>A |
p.G1736R |
Missense |
30/52 |
- |
1 |
12-6016625-C-A |
c.5202G>T |
p.Q1734H |
Missense |
30/52 |
- |
1 |
12-6016625-C-G |
c.5202G>C |
p.Q1734H |
Missense |
30/52 |
- |
1 |
12-6016625-C-T |
c.5202G>A |
p.Q1734= |
Synonymous |
30/52 |
- |
2 |
12-6016627-G-A |
c.5200C>T |
p.Q1734* |
Nonsense |
30/52 |
- |
3 |
12-6016629-A-G |
c.5198T>C |
p.L1733P |
Missense |
30/52 |
- |
2 |
12-6016630-G-A |
c.5197C>T |
p.L1733= |
Synonymous |
30/52 |
- |
1 |
12-6016630-G-T |
c.5197C>A |
p.L1733M |
Missense |
30/52 |
- |
4 |
12-6016633-C-T |
c.5194G>A |
p.V1732M |
Missense |
30/52 |
- |
2 |
12-6016635-G-A |
c.5192C>T |
p.S1731L |
Missense |
30/52 |
- |
2 |
12-6016636-A-T |
c.5191T>A |
p.S1731T |
Missense |
30/52 |
- |
23 |
12-6016641-T-G |
c.5186A>C |
p.Q1729P |
Missense |
30/52 |
- |
1 |
12-6016643-A-C |
c.5184T>G |
p.T1728= |
Synonymous |
30/52 |
- |
1 |
12-6016643-A-G |
c.5184T>C |
p.T1728= |
Synonymous |
30/52 |
- |
1 |
12-6016643-A-T |
c.5184T>A |
p.T1728= |
Synonymous |
30/52 |
- |
1 |
12-6016644-G-A |
c.5183C>T |
p.T1728I |
Missense |
30/52 |
- |
2 |
12-6016646-G-A |
c.5181C>T |
p.L1727= |
Synonymous |
30/52 |
- |
5 |
12-6016646-G-C |
c.5181C>G |
p.L1727= |
Synonymous |
30/52 |
- |
1 |
12-6016646-G-T |
c.5181C>A |
p.L1727= |
Synonymous |
30/52 |
- |
1 |
12-6016646-G-GAA |
c.5180_5181insTT |
p.T1728Sfs*29 |
Frameshift |
30/52 |
- |
2 |
12-6016650-C-T |
c.5177G>A |
p.R1726H |
Missense |
30/52 |
- |
3 |
12-6016651-G-A |
c.5176C>T |
p.R1726C |
Missense |
30/52 |
- |
6 |
12-6016651-G-T |
c.5176C>A |
p.R1726S |
Missense |
30/52 |
- |
3 |
12-6016654-G-A |
c.5173C>T |
p.P1725S |
Missense |
30/52 |
- |
6 |
12-6016663-G-A |
c.5171-7C>T |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016668-G-A |
c.5171-12C>T |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016743-C-G |
c.5170+11G>C |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016743-C-T |
c.5170+11G>A |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016744-G-A |
c.5170+10C>T |
- |
IntronicSNV |
- |
29/51 |
5 |
12-6016744-G-C |
c.5170+10C>G |
- |
IntronicSNV |
- |
29/51 |
3 |
12-6016751-C-T |
c.5170+3G>A |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016753-C-T |
c.5170+1G>A |
- |
IntronicSNV |
- |
29/51 |
1 |
12-6016754-C-T |
c.5170G>A |
p.G1724R |
Missense |
29/52 |
- |
1 |
12-6016758-A-G |
c.5166T>C |
p.N1722= |
Synonymous |
29/52 |
- |
1 |
12-6016762-G-T |
c.5162C>A |
p.A1721D |
Missense |
29/52 |
- |
1 |
12-6016763-C-T |
c.5161G>A |
p.A1721T |
Missense |
29/52 |
- |
2 |
12-6016764-T-A |
c.5160A>T |
p.K1720N |
Missense |
29/52 |
- |
12 |
12-6016764-T-G |
c.5160A>C |
p.K1720N |
Missense |
29/52 |
- |
9 |
12-6016768-G-A |
c.5156C>T |
p.S1719L |
Missense |
29/52 |
- |
1 |
12-6016769-A-G |
c.5155T>C |
p.S1719P |
Missense |
29/52 |
- |
1 |
12-6016773-G-A |
c.5151C>T |
p.F1717= |
Synonymous |
29/52 |
- |
2 |
12-6016776-A-T |
c.5148T>A |
p.A1716= |
Synonymous |
29/52 |
- |
1 |
12-6016777-GC-AA |
c.5146_5147delinsTT |
p.A1716F |
Missense |
29/52 |
- |
1 |
12-6016778-C-G |
c.5146G>C |
p.A1716P |
Missense |
29/52 |
- |
2 |
12-6016778-C-T |
c.5146G>A |
p.A1716T |
Missense |
29/52 |
- |
1 |
12-6016785-G-A |
c.5139C>T |
p.F1713= |
Synonymous |
29/52 |
- |
2 |
12-6016789-C-G |
c.5135G>C |
p.S1712T |
Missense |
29/52 |
- |
1 |
12-6016795-A-G |
c.5129T>C |
p.M1710T |
Missense |
29/52 |
- |
1 |
12-6016799-C-T |
c.5125G>A |
p.E1709K |
Missense |
29/52 |
- |
5 |
12-6016802-C-T |
c.5122G>A |
p.D1708N |
Missense |
29/52 |
- |
3 |
12-6016803-A-G |
c.5121T>C |
p.F1707= |
Synonymous |
29/52 |
- |
1 |
12-6016811-A-C |
c.5113T>G |
p.S1705A |
Missense |
29/52 |
- |
1 |
12-6016818-G-A |
c.5106C>T |
p.F1702= |
Synonymous |
29/52 |
- |
5 |
12-6016820-A-C |
c.5104T>G |
p.F1702V |
Missense |
29/52 |
- |
1 |
12-6016825-G-A |
c.5099C>T |
p.S1700F |
Missense |
29/52 |
- |
2 |
12-6016827-G-A |
c.5097C>T |
p.S1699= |
Synonymous |
29/52 |
- |
1 |
12-6016827-G-C |
c.5097C>G |
p.S1699= |
Synonymous |
29/52 |
- |
1 |
12-6016827-G-T |
c.5097C>A |
p.S1699= |
Synonymous |
29/52 |
- |
1 |
12-6016828-G-A |
c.5096C>T |
p.S1699F |
Missense |
29/52 |
- |
5 |
12-6016832-C-A |
c.5092G>T |
p.G1698C |
Missense |
29/52 |
- |
1 |
12-6016836-CCAG-C |
c.5086_5088del |
p.L1696del |
InFrameDeletion |
29/52 |
- |
1 |
12-6016837-A-C |
c.5087T>G |
p.L1696R |
Missense |
29/52 |
- |
5 |
12-6016836-CAGG-C |
c.5085_5087del |
p.L1696del |
InFrameDeletion |
29/52 |
- |
1 |
12-6016841-G-A |
c.5083C>T |
p.L1695F |
Missense |
29/52 |
- |
1 |
12-6016844-G-A |
c.5080C>T |
p.L1694F |
Missense |
29/52 |
- |
2 |
12-6016850-C-A |
c.5074G>T |
p.V1692L |
Missense |
29/52 |
- |
1 |
12-6016850-C-G |
c.5074G>C |
p.V1692L |
Missense |
29/52 |
- |
1 |
12-6016850-C-T |
c.5074G>A |
p.V1692M |
Missense |
29/52 |
- |
1 |
12-6016851-G-A |
c.5073C>T |
p.D1691= |
Synonymous |
29/52 |
- |
2 |
12-6016857-G-C |
c.5067C>G |
p.P1689= |
Synonymous |
29/52 |
- |
1 |
12-6016859-G-T |
c.5065C>A |
p.P1689T |
Missense |
29/52 |
- |
1 |
12-6016900-C-G |
c.5054-30G>C |
- |
IntronicSNV |
- |
28/51 |
1 |
12-6016900-C-T |
c.5054-30G>A |
- |
IntronicSNV |
- |
28/51 |
1 |
12-6016964-G-A |
c.5054-94C>T |
- |
IntronicSNV |
- |
28/51 |
1 |
12-6017620-AT-A |
c.5053+744del |
- |
IntronicDeletion |
- |
28/51 |
1 |
12-6018283-G-A |
c.5053+82C>T |
- |
IntronicSNV |
- |
28/51 |
3 |
12-6018364-C-A |
c.5053+1G>T |
- |
IntronicSNV |
- |
28/51 |
1 |
12-6018369-T-A |
c.5049A>T |
p.A1683= |
Synonymous |
28/52 |
- |
2 |
12-6018369-T-C |
c.5049A>G |
p.A1683= |
Synonymous |
28/52 |
- |
4 |
12-6018369-T-G |
c.5049A>C |
p.A1683= |
Synonymous |
28/52 |
- |
13 |
12-6018371-C-G |
c.5047G>C |
p.A1683P |
Missense |
28/52 |
- |
1 |
12-6018373-G-A |
c.5045C>T |
p.P1682L |
Missense |
28/52 |
- |
1 |
12-6018376-G-A |
c.5042C>T |
p.S1681F |
Missense |
28/52 |
- |
1 |
12-6018379-A-G |
c.5039T>C |
p.L1680P |
Missense |
28/52 |
- |
1 |
12-6018379-GA-G |
c.5039del |
p.L1680Pfs*13 |
Frameshift |
28/52 |
- |
1 |
12-6018380-G-A |
c.5038C>T |
p.L1680F |
Missense |
28/52 |
- |
1 |
12-6018380-G-C |
c.5038C>G |
p.L1680V |
Missense |
28/52 |
- |
1 |
12-6018380-G-T |
c.5038C>A |
p.L1680I |
Missense |
28/52 |
- |
2 |
12-6018381-G-A |
c.5037C>T |
p.T1679= |
Synonymous |
28/52 |
- |
2 |
12-6018383-T-C |
c.5035A>G |
p.T1679A |
Missense |
28/52 |
- |
2 |
12-6018387-G-A |
c.5031C>T |
p.I1677= |
Synonymous |
28/52 |
- |
1 |
12-6018389-T-C |
c.5029A>G |
p.I1677V |
Missense |
28/52 |
- |
2 |
12-6018395-G-A |
c.5023C>T |
p.L1675= |
Synonymous |
28/52 |
- |
1 |
12-6018397-C-T |
c.5021G>A |
p.G1674E |
Missense |
28/52 |
- |
2 |
12-6018399-C-G |
c.5019G>C |
p.E1673D |
Missense |
28/52 |
- |
1 |
12-6018401-C-CA |
c.5016_5017insT |
p.E1673* |
Nonsense |
28/52 |
- |
1 |
12-6018401-C-G |
c.5017G>C |
p.E1673Q |
Missense |
28/52 |
- |
1 |
12-6018404-C-G |
c.5014G>C |
p.G1672R |
Missense |
28/52 |
- |
2 |
12-6018404-C-T |
c.5014G>A |
p.G1672R |
Missense |
28/52 |
- |
6 |
12-6018406-G-A |
c.5012C>T |
p.S1671F |
Missense |
28/52 |
- |
1 |
12-6018409-CA-GC |
c.5008_5009delinsGC |
p.C1670A |
Missense |
28/52 |
- |
1 |
12-6018409-C-G |
c.5009G>C |
p.C1670S |
Missense |
28/52 |
- |
2 |
12-6018410-A-C |
c.5008T>G |
p.C1670G |
Missense |
28/52 |
- |
1 |
12-6018410-A-T |
c.5008T>A |
p.C1670S |
Missense |
28/52 |
- |
2 |
12-6018411-G-A |
c.5007C>T |
p.C1669= |
Synonymous |
28/52 |
- |
2 |
12-6018411-G-C |
c.5007C>G |
p.C1669W |
Missense |
28/52 |
- |
1 |
12-6018412-CA-GC |
c.5005_5006delinsGC |
p.C1669A |
Missense |
28/52 |
- |
2 |
12-6018412-CA-GT |
c.5005_5006delinsAC |
p.C1669T |
Missense |
28/52 |
- |
1 |
12-6018413-A-C |
c.5005T>G |
p.C1669G |
Missense |
28/52 |
- |
3 |
12-6018414-CCT-GTC |
c.5002_5004delinsGAC |
p.R1668D |
Missense |
28/52 |
- |
1 |
12-6018414-C-G |
c.5004G>C |
p.R1668S |
Missense |
28/52 |
- |
1 |
12-6018415-C-T |
c.5003G>A |
p.R1668K |
Missense |
28/52 |
- |
1 |
12-6018415-CT-GC |
c.5002_5003delinsGC |
p.R1668A |
Missense |
28/52 |
- |
2 |
12-6018417-C-G |
c.5001G>C |
p.Q1667H |
Missense |
28/52 |
- |
1 |
12-6018417-C-T |
c.5001G>A |
p.Q1667= |
Synonymous |
28/52 |
- |
1 |
12-6018421-A-T |
c.4997T>A |
p.L1666Q |
Missense |
28/52 |
- |
1 |
12-6018422-G-C |
c.4996C>G |
p.L1666V |
Missense |
28/52 |
- |
3 |
12-6018423-CAC-GTT |
c.4993_4995delinsAAC |
p.V1665N |
Missense |
28/52 |
- |
1 |
12-6018424-A-T |
c.4994T>A |
p.V1665E |
Missense |
28/52 |
- |
6 |
12-6018425-C-A |
c.4993G>T |
p.V1665L |
Missense |
28/52 |
- |
1 |
12-6018425-C-G |
c.4993G>C |
p.V1665L |
Missense |
28/52 |
- |
1 |
12-6018427-AG-GT |
c.4990_4991delinsAC |
p.L1664T |
Missense |
28/52 |
- |
1 |
12-6018430-T-G |
c.4988A>C |
p.D1663A |
Missense |
28/52 |
- |
2 |
12-6018434-G-C |
c.4984C>G |
p.P1662A |
Missense |
28/52 |
- |
1 |
12-6018436-G-C |
c.4982C>G |
p.A1661G |
Missense |
28/52 |
- |
1 |
12-6018439-TC-CT |
c.4978_4979delinsAG |
p.E1660R |
Missense |
28/52 |
- |
1 |
12-6018439-T-G |
c.4979A>C |
p.E1660A |
Missense |
28/52 |
- |
2 |
12-6018442-CG-GC |
c.4975_4976delinsGC |
p.R1659A |
Missense |
28/52 |
- |
2 |
12-6018442-C-T |
c.4976G>A |
p.R1659Q |
Missense |
28/52 |
- |
8 |
12-6018442-TC-T |
c.4976del |
p.R1659Qfs*34 |
Frameshift |
28/52 |
- |
1 |
12-6018443-G-A |
c.4975C>T |
p.R1659* |
Nonsense |
28/52 |
- |
20 |
12-6018444-G-A |
c.4974C>T |
p.P1658= |
Synonymous |
28/52 |
- |
1 |
12-6018446-G-A |
c.4972C>T |
p.P1658S |
Missense |
28/52 |
- |
1 |
12-6018448-A-G |
c.4970T>C |
p.L1657P |
Missense |
28/52 |
- |
2 |
12-6018448-A-T |
c.4970T>A |
p.L1657H |
Missense |
28/52 |
- |
1 |
12-6018449-G-A |
c.4969C>T |
p.L1657F |
Missense |
28/52 |
- |
3 |
12-6018449-G-T |
c.4969C>A |
p.L1657I |
Missense |
28/52 |
- |
3 |
12-6018450-C-A |
c.4968G>T |
p.T1656= |
Synonymous |
28/52 |
- |
1 |
12-6018450-C-G |
c.4968G>C |
p.T1656= |
Synonymous |
28/52 |
- |
1 |
12-6018450-C-T |
c.4968G>A |
p.T1656= |
Synonymous |
28/52 |
- |
1 |
12-6018451-G-A |
c.4967C>T |
p.T1656M |
Missense |
28/52 |
- |
10 |
12-6018454-T-G |
c.4964A>C |
p.E1655A |
Missense |
28/52 |
- |
3 |
12-6018458-A-G |
c.4960T>C |
p.F1654L |
Missense |
28/52 |
- |
1 |
12-6018458-A-T |
c.4960T>A |
p.F1654I |
Missense |
28/52 |
- |
1 |
12-6018459-G-A |
c.4959C>T |
p.D1653= |
Synonymous |
28/52 |
- |
1 |
12-6018460-T-A |
c.4958A>T |
p.D1653V |
Missense |
28/52 |
- |
1 |
12-6018460-TC-GT |
c.4957_4958delinsAC |
p.D1653T |
Missense |
28/52 |
- |
1 |
12-6018460-T-G |
c.4958A>C |
p.D1653A |
Missense |
28/52 |
- |
2 |
12-6018462-C-A |
c.4956G>T |
p.Q1652H |
Missense |
28/52 |
- |
1 |
12-6018462-C-G |
c.4956G>C |
p.Q1652H |
Missense |
28/52 |
- |
1 |
12-6018466-A-C |
c.4952T>G |
p.I1651S |
Missense |
28/52 |
- |
1 |
12-6018466-AT-GC |
c.4951_4952delinsGC |
p.I1651A |
Missense |
28/52 |
- |
1 |
12-6018467-T-G |
c.4951A>C |
p.I1651L |
Missense |
28/52 |
- |
1 |
12-6018468-G-A |
c.4950C>T |
p.L1650= |
Synonymous |
28/52 |
- |
1 |
12-6018468-GA-TT |
c.4949_4950delinsAA |
p.L1650Q |
Missense |
28/52 |
- |
2 |
12-6018468-G-C |
c.4950C>G |
p.L1650= |
Synonymous |
28/52 |
- |
1 |
12-6018468-G-T |
c.4950C>A |
p.L1650= |
Synonymous |
28/52 |
- |
1 |
12-6018472-A-C |
c.4946T>G |
p.I1649S |
Missense |
28/52 |
- |
1 |
12-6018474-A-C |
c.4944T>G |
p.P1648= |
Synonymous |
28/52 |
- |
10 |
12-6018474-A-G |
c.4944T>C |
p.P1648= |
Synonymous |
28/52 |
- |
13 |
12-6018474-A-T |
c.4944T>A |
p.P1648= |
Synonymous |
28/52 |
- |
6 |
12-6018474-TA-T |
c.4944del |
p.I1649Sfs*44 |
Frameshift |
28/52 |
- |
1 |
12-6018475-G-A |
c.4943C>T |
p.P1648L |
Missense |
28/52 |
- |
1 |
12-6018475-G-C |
c.4943C>G |
p.P1648R |
Missense |
28/52 |
- |
2 |
12-6018476-G-A |
c.4942C>T |
p.P1648S |
Missense |
28/52 |
- |
7 |
12-6018476-G-T |
c.4942C>A |
p.P1648T |
Missense |
28/52 |
- |
1 |
12-6018479-C-A |
c.4939G>T |
p.A1647S |
Missense |
28/52 |
- |
2 |
12-6018479-C-T |
c.4939G>A |
p.A1647T |
Missense |
28/52 |
- |
1 |
12-6018481-T-C |
c.4937A>G |
p.N1646S |
Missense |
28/52 |
- |
3 |
12-6018483-G-C |
c.4935C>G |
p.P1645= |
Synonymous |
28/52 |
- |
1 |
12-6018486-C-T |
c.4932G>A |
p.W1644* |
Nonsense |
28/52 |
- |
1 |
12-6018485-G-GC |
c.4932dup |
p.P1645Afs*11 |
Frameshift |
28/52 |
- |
1 |
12-6018487-C-T |
c.4931G>A |
p.W1644* |
Nonsense |
28/52 |
- |
1 |
12-6018491-C-A |
c.4927G>T |
p.G1643C |
Missense |
28/52 |
- |
1 |
12-6018491-C-T |
c.4927G>A |
p.G1643S |
Missense |
28/52 |
- |
3 |
12-6018492-AAT-TTG |
c.4924_4926delinsCAA |
p.I1642Q |
Missense |
28/52 |
- |
2 |
12-6018492-A-G |
c.4926T>C |
p.I1642= |
Synonymous |
28/52 |
- |
8 |
12-6018492-A-T |
c.4926T>A |
p.I1642= |
Synonymous |
28/52 |
- |
5 |
12-6018493-A-C |
c.4925T>G |
p.I1642S |
Missense |
28/52 |
- |
1 |
12-6018493-A-G |
c.4925T>C |
p.I1642T |
Missense |
28/52 |
- |
2 |
12-6018496-C-T |
c.4922G>A |
p.R1641K |
Missense |
28/52 |
- |
8 |
12-6018502-A-G |
c.4916T>C |
p.L1639P |
Missense |
28/52 |
- |
2 |
12-6018506-C-A |
c.4912G>T |
p.E1638* |
Nonsense |
28/52 |
- |
3 |
12-6018506-C-T |
c.4912G>A |
p.E1638K |
Missense |
28/52 |
- |
10 |
12-6018523-G-T |
c.4895C>A |
p.P1632H |
Missense |
28/52 |
- |
1 |
12-6018526-C-T |
c.4892G>A |
p.G1631D |
Missense |
28/52 |
- |
6 |
12-6018529-A-C |
c.4889T>G |
p.V1630G |
Missense |
28/52 |
- |
1 |
12-6018532-C-T |
c.4886G>A |
p.G1629E |
Missense |
28/52 |
- |
5 |
12-6018533-C-G |
c.4885G>C |
p.G1629R |
Missense |
28/52 |
- |
5 |
12-6018533-C-T |
c.4885G>A |
p.G1629R |
Missense |
28/52 |
- |
10 |
12-6018534-AA-CT |
c.4883_4884delinsAG |
p.I1628K |
Missense |
28/52 |
- |
1 |
12-6018534-A-G |
c.4884T>C |
p.I1628= |
Synonymous |
28/52 |
- |
1 |
12-6018534-A-T |
c.4884T>A |
p.I1628= |
Synonymous |
28/52 |
- |
1 |
12-6018534-CAA-C |
c.4883_4884del |
p.I1628Rfs*5 |
Frameshift |
28/52 |
- |
1 |
12-6018535-A-G |
c.4883T>C |
p.I1628T |
Missense |
28/52 |
- |
17 |
12-6018535-A-T |
c.4883T>A |
p.I1628N |
Missense |
28/52 |
- |
1 |
12-6018548-G-A |
c.4870C>T |
p.Q1624* |
Nonsense |
28/52 |
- |
6 |
12-6018549-G-A |
c.4869C>T |
p.I1623= |
Synonymous |
28/52 |
- |
4 |
12-6018552-G-A |
c.4866C>T |
p.D1622= |
Synonymous |
28/52 |
- |
2 |
12-6018553-TC-GT |
c.4864_4865delinsAC |
p.D1622T |
Missense |
28/52 |
- |
1 |
12-6018554-C-A |
c.4864G>T |
p.D1622Y |
Missense |
28/52 |
- |
1 |
12-6018560-G-A |
c.4858C>T |
p.P1620S |
Missense |
28/52 |
- |
1 |
12-6018561-C-A |
c.4857G>T |
p.L1619= |
Synonymous |
28/52 |
- |
1 |
12-6018561-C-G |
c.4857G>C |
p.L1619= |
Synonymous |
28/52 |
- |
1 |
12-6018561-C-T |
c.4857G>A |
p.L1619= |
Synonymous |
28/52 |
- |
2 |
12-6018563-G-A |
c.4855C>T |
p.L1619= |
Synonymous |
28/52 |
- |
2 |
12-6018565-CT-TC |
c.4852_4853delinsGA |
p.R1618E |
Missense |
28/52 |
- |
1 |
12-6018568-T-C |
c.4850A>G |
p.K1617R |
Missense |
28/52 |
- |
3 |
12-6018569-T-C |
c.4849A>G |
p.K1617E |
Missense |
28/52 |
- |
1 |
12-6018570-G-A |
c.4848C>T |
p.I1616= |
Synonymous |
28/52 |
- |
1 |
12-6018575-C-A |
c.4843G>T |
p.E1615* |
Nonsense |
28/52 |
- |
1 |
12-6018576-A-C |
c.4842T>G |
p.D1614E |
Missense |
28/52 |
- |
5 |
12-6018576-A-T |
c.4842T>A |
p.D1614E |
Missense |
28/52 |
- |
2 |
12-6018577-T-C |
c.4841A>G |
p.D1614G |
Missense |
28/52 |
- |
3 |
12-6018577-T-G |
c.4841A>C |
p.D1614A |
Missense |
28/52 |
- |
2 |
12-6018578-C-T |
c.4840G>A |
p.D1614N |
Missense |
28/52 |
- |
2 |
12-6018579-A-G |
c.4839T>C |
p.S1613= |
Synonymous |
28/52 |
- |
1 |
12-6018580-G-A |
c.4838C>T |
p.S1613F |
Missense |
28/52 |
- |
4 |
12-6018580-GA-CC |
c.4837_4838delinsGG |
p.S1613G |
Missense |
28/52 |
- |
1 |
12-6018580-G-C |
c.4838C>G |
p.S1613C |
Missense |
28/52 |
- |
1 |
12-6018581-A-C |
c.4837T>G |
p.S1613A |
Missense |
28/52 |
- |
1 |
12-6018581-A-G |
c.4837T>C |
p.S1613P |
Missense |
28/52 |
- |
3 |
12-6018589-TT-CA |
c.4828_4829delinsTG |
p.N1610C |
Missense |
28/52 |
- |
2 |
12-6018592-C-G |
c.4826G>C |
p.G1609A |
Missense |
28/52 |
- |
1 |
12-6018593-C-G |
c.4825G>C |
p.G1609R |
Missense |
28/52 |
- |
10 |
12-6018593-C-T |
c.4825G>A |
p.G1609R |
Missense |
28/52 |
- |
15 |
12-6018594-G-A |
c.4824C>T |
p.T1608= |
Synonymous |
28/52 |
- |
1 |
12-6018596-T-C |
c.4822A>G |
p.T1608A |
Missense |
28/52 |
- |
3 |
12-6018597-G-A |
c.4821C>T |
p.V1607= |
Synonymous |
28/52 |
- |
1 |
12-6018597-G-C |
c.4821C>G |
p.V1607= |
Synonymous |
28/52 |
- |
1 |
12-6018597-G-T |
c.4821C>A |
p.V1607= |
Synonymous |
28/52 |
- |
1 |
12-6018598-A-T |
c.4820T>A |
p.V1607D |
Missense |
28/52 |
- |
7 |
12-6018600-C-A |
c.4818G>T |
p.M1606I |
Missense |
28/52 |
- |
1 |
12-6018600-C-G |
c.4818G>C |
p.M1606I |
Missense |
28/52 |
- |
1 |
12-6018600-C-T |
c.4818G>A |
p.M1606I |
Missense |
28/52 |
- |
1 |
12-6018601-AT-GC |
c.4816_4817delinsGC |
p.M1606A |
Missense |
28/52 |
- |
4 |
12-6018602-T-A |
c.4816A>T |
p.M1606L |
Missense |
28/52 |
- |
2 |
12-6018602-T-G |
c.4816A>C |
p.M1606L |
Missense |
28/52 |
- |
2 |
12-6018603-GTA-CAT |
c.4813_4815delinsATG |
p.Y1605M |
Missense |
28/52 |
- |
4 |
12-6018603-GTA-CTT |
c.4813_4815delinsAAG |
p.Y1605K |
Missense |
28/52 |
- |
1 |
12-6018603-GT-CC |
c.4814_4815delinsGG |
p.Y1605W |
Missense |
28/52 |
- |
1 |
12-6018604-T-A |
c.4814A>T |
p.Y1605F |
Missense |
28/52 |
- |
1 |
12-6018604-TA-GC |
c.4813_4814delinsGC |
p.Y1605A |
Missense |
28/52 |
- |
6 |
12-6018604-T-G |
c.4814A>C |
p.Y1605S |
Missense |
28/52 |
- |
1 |
12-6018607-AC-CT |
c.4810_4811delinsAG |
p.V1604S |
Missense |
28/52 |
- |
1 |
12-6018607-A-G |
c.4811T>C |
p.V1604A |
Missense |
28/52 |
- |
1 |
12-6018608-C-A |
c.4810G>T |
p.V1604F |
Missense |
28/52 |
- |
3 |
12-6018608-C-T |
c.4810G>A |
p.V1604I |
Missense |
28/52 |
- |
1 |
12-6018609-CAG-GTT |
c.4807_4809delinsAAC |
p.L1603N |
Missense |
28/52 |
- |
2 |
12-6018610-AG-GA |
c.4807_4808delinsTC |
p.L1603S |
Missense |
28/52 |
- |
1 |
12-6018610-AG-GC |
c.4807_4808delinsGC |
p.L1603A |
Missense |
28/52 |
- |
2 |
12-6018610-AG-TT |
c.4807_4808delinsAA |
p.L1603K |
Missense |
28/52 |
- |
1 |
12-6018611-G-T |
c.4807C>A |
p.L1603M |
Missense |
28/52 |
- |
1 |
12-6018613-TT-GC |
c.4804_4805delinsGC |
p.N1602A |
Missense |
28/52 |
- |
7 |
12-6018615-G-A |
c.4803C>T |
p.P1601= |
Synonymous |
28/52 |
- |
1 |
12-6018617-G-C |
c.4801C>G |
p.P1601A |
Missense |
28/52 |
- |
1 |
12-6018618-C-A |
c.4800G>T |
p.A1600= |
Synonymous |
28/52 |
- |
1 |
12-6018618-C-G |
c.4800G>C |
p.A1600= |
Synonymous |
28/52 |
- |
1 |
12-6018618-C-T |
c.4800G>A |
p.A1600= |
Synonymous |
28/52 |
- |
4 |
12-6018619-G-A |
c.4799C>T |
p.A1600V |
Missense |
28/52 |
- |
1 |
12-6018621-C-T |
c.4797G>A |
p.Q1599= |
Synonymous |
28/52 |
- |
1 |
12-6018627-C-T |
c.4791G>A |
p.R1597= |
Synonymous |
28/52 |
- |
1 |
12-6018628-C-T |
c.4790G>A |
p.R1597Q |
Missense |
28/52 |
- |
7 |
12-6018629-G-A |
c.4789C>T |
p.R1597W |
Missense |
28/52 |
- |
43 |
12-6018629-G-C |
c.4789C>G |
p.R1597G |
Missense |
28/52 |
- |
2 |
12-6018631-T-G |
c.4787A>C |
p.D1596A |
Missense |
28/52 |
- |
4 |
12-6018641-T-A |
c.4777A>T |
p.S1593C |
Missense |
28/52 |
- |
1 |
12-6018643-A-G |
c.4775T>C |
p.V1592A |
Missense |
28/52 |
- |
2 |
12-6018643-A-T |
c.4775T>A |
p.V1592D |
Missense |
28/52 |
- |
1 |
12-6018651-G-C |
c.4767C>G |
p.S1589R |
Missense |
28/52 |
- |
1 |
12-6018652-CT-GG |
c.4765_4766delinsCC |
p.S1589P |
Missense |
28/52 |
- |
1 |
12-6018657-GTC-CTT |
c.4759_4761delinsAAG |
p.D1587K |
Missense |
28/52 |
- |
1 |
12-6018664-A-G |
c.4754T>C |
p.L1585P |
Missense |
28/52 |
- |
2 |
12-6018665-G-A |
c.4753C>T |
p.L1585F |
Missense |
28/52 |
- |
1 |
12-6018666-G-C |
c.4752C>G |
p.Y1584* |
Nonsense |
28/52 |
- |
1 |
12-6018666-G-T |
c.4752C>A |
p.Y1584* |
Nonsense |
28/52 |
- |
1 |
12-6018667-T-C |
c.4751A>G |
p.Y1584C |
Missense |
28/52 |
- |
52 |
12-6018669-C-T |
c.4749G>A |
p.R1583= |
Synonymous |
28/52 |
- |
1 |
12-6018670-C-T |
c.4748G>A |
p.R1583Q |
Missense |
28/52 |
- |
1 |
12-6018671-G-A |
c.4747C>T |
p.R1583W |
Missense |
28/52 |
- |
7 |
12-6018672-CAG-AAA |
c.4744_4746delinsTTT |
p.L1582F |
Missense |
28/52 |
- |
1 |
12-6018676-G-T |
c.4742C>A |
p.A1581D |
Missense |
28/52 |
- |
1 |
12-6018679-A-G |
c.4739T>C |
p.L1580P |
Missense |
28/52 |
- |
2 |
12-6018680-G-C |
c.4738C>G |
p.L1580V |
Missense |
28/52 |
- |
1 |
12-6018681-C-T |
c.4737G>A |
p.G1579= |
Synonymous |
28/52 |
- |
2 |
12-6018683-C-A |
c.4735G>T |
p.G1579W |
Missense |
28/52 |
- |
4 |
12-6018683-C-G |
c.4735G>C |
p.G1579R |
Missense |
28/52 |
- |
3 |
12-6018683-C-T |
c.4735G>A |
p.G1579R |
Missense |
28/52 |
- |
5 |
12-6018685-G-T |
c.4733C>A |
p.T1578N |
Missense |
28/52 |
- |
1 |
12-6018686-T-C |
c.4732A>G |
p.T1578A |
Missense |
28/52 |
- |
2 |
12-6018694-CT-AC |
c.4723_4724delinsGT |
p.R1575V |
Missense |
28/52 |
- |
1 |
12-6018696-GTT-TTG |
c.4720_4722delinsCAA |
p.N1574Q |
Missense |
28/52 |
- |
2 |
12-6018697-T-C |
c.4721A>G |
p.N1574S |
Missense |
28/52 |
- |
1 |
12-6018699-G-A |
c.4719C>T |
p.G1573= |
Synonymous |
28/52 |
- |
1 |
12-6018699-G-C |
c.4719C>G |
p.G1573= |
Synonymous |
28/52 |
- |
1 |
12-6018699-G-T |
c.4719C>A |
p.G1573= |
Synonymous |
28/52 |
- |
1 |
12-6018701-C-T |
c.4717G>A |
p.G1573S |
Missense |
28/52 |
- |
2 |
12-6018702-G-A |
c.4716C>T |
p.G1572= |
Synonymous |
28/52 |
- |
3 |
12-6018703-C-A |
c.4715G>T |
p.G1572V |
Missense |
28/52 |
- |
3 |
12-6018704-C-A |
c.4714G>T |
p.G1572C |
Missense |
28/52 |
- |
2 |
12-6018705-C-A |
c.4713G>T |
p.Q1571H |
Missense |
28/52 |
- |
2 |
12-6018707-G-C |
c.4711C>G |
p.Q1571E |
Missense |
28/52 |
- |
1 |
12-6018708-G-A |
c.4710C>T |
p.Y1570= |
Synonymous |
28/52 |
- |
1 |
12-6018709-T-C |
c.4709A>G |
p.Y1570C |
Missense |
28/52 |
- |
5 |
12-6018712-C-A |
c.4706G>T |
p.R1569L |
Missense |
28/52 |
- |
1 |
12-6018712-C-T |
c.4706G>A |
p.R1569H |
Missense |
28/52 |
- |
1 |
12-6018713-G-A |
c.4705C>T |
p.R1569C |
Missense |
28/52 |
- |
1 |
12-6018715-A-T |
c.4703T>A |
p.I1568N |
Missense |
28/52 |
- |
2 |
12-6018718-T-G |
c.4700A>C |
p.E1567A |
Missense |
28/52 |
- |
1 |
12-6018720-TC-AT |
c.4697_4698delinsAT |
p.R1566H |
Missense |
28/52 |
- |
1 |
12-6018722-G-A |
c.4696C>T |
p.R1566* |
Nonsense |
28/52 |
- |
10 |
12-6018723-C-A |
c.4695G>T |
p.V1565= |
Synonymous |
28/52 |
- |
2 |
12-6018723-C-G |
c.4695G>C |
p.V1565= |
Synonymous |
28/52 |
- |
2 |
12-6018723-C-T |
c.4695G>A |
p.V1565= |
Synonymous |
28/52 |
- |
2 |
12-6018724-A-G |
c.4694T>C |
p.V1565A |
Missense |
28/52 |
- |
1 |
12-6018725-C-A |
c.4693G>T |
p.V1565L |
Missense |
28/52 |
- |
25 |
12-6018725-C-G |
c.4693G>C |
p.V1565L |
Missense |
28/52 |
- |
7 |
12-6018727-CG-TT |
c.4690_4691delinsAA |
p.R1564K |
Missense |
28/52 |
- |
1 |
12-6018728-G-A |
c.4690C>T |
p.R1564W |
Missense |
28/52 |
- |
2 |
12-6018733-A-G |
c.4685T>C |
p.L1562P |
Missense |
28/52 |
- |
3 |
12-6018735-G-A |
c.4683C>T |
p.I1561= |
Synonymous |
28/52 |
- |
1 |
12-6018735-G-T |
c.4683C>A |
p.I1561= |
Synonymous |
28/52 |
- |
2 |
12-6018736-A-AT |
c.4681dup |
p.I1561Nfs*27 |
Frameshift |
28/52 |
- |
1 |
12-6018740-C-T |
c.4678G>A |
p.D1560N |
Missense |
28/52 |
- |
2 |
12-6018743-C-T |
c.4675G>A |
p.G1559R |
Missense |
28/52 |
- |
1 |
12-6018748-GA-AT |
c.4669_4670delinsAT |
p.S1557I |
Missense |
28/52 |
- |
1 |
12-6018751-T-C |
c.4667A>G |
p.Q1556R |
Missense |
28/52 |
- |
2 |
12-6018752-TG-T |
c.4666del |
p.Q1556Sfs*137 |
Frameshift |
28/52 |
- |
1 |
12-6018753-T-A |
c.4665A>T |
p.A1555= |
Synonymous |
28/52 |
- |
1 |
12-6018753-T-C |
c.4665A>G |
p.A1555= |
Synonymous |
28/52 |
- |
1 |
12-6018753-T-G |
c.4665A>C |
p.A1555= |
Synonymous |
28/52 |
- |
12 |
12-6018754-G-C |
c.4664C>G |
p.A1555G |
Missense |
28/52 |
- |
1 |
12-6018758-C-T |
c.4660G>A |
p.E1554K |
Missense |
28/52 |
- |
4 |
12-6018759-G-A |
c.4659C>T |
p.S1553= |
Synonymous |
28/52 |
- |
1 |
12-6018760-C-T |
c.4658G>A |
p.S1553N |
Missense |
28/52 |
- |
1 |
12-6018765-G-A |
c.4653C>T |
p.P1551= |
Synonymous |
28/52 |
- |
2 |
12-6018766-G-A |
c.4652C>T |
p.P1551L |
Missense |
28/52 |
- |
3 |
12-6018767-G-A |
c.4651C>T |
p.P1551S |
Missense |
28/52 |
- |
1 |
12-6018767-GGGT-G |
c.4649_4651del |
p.Y1550_P1551delinsS |
MultiAAMissense |
28/52 |
- |
1 |
12-6018772-T-G |
c.4646A>C |
p.E1549A |
Missense |
28/52 |
- |
1 |
12-6018773-C-T |
c.4645G>A |
p.E1549K |
Missense |
28/52 |
- |
2 |
12-6018774-C-T |
c.4644G>A |
p.V1548= |
Synonymous |
28/52 |
- |
1 |
12-6018775-AC-GA |
c.4642_4643delinsTC |
p.V1548S |
Missense |
28/52 |
- |
1 |
12-6018777-A-C |
c.4641T>G |
p.T1547= |
Synonymous |
28/52 |
- |
1 |
12-6018777-A-G |
c.4641T>C |
p.T1547= |
Synonymous |
28/52 |
- |
25 |
12-6018777-A-T |
c.4641T>A |
p.T1547= |
Synonymous |
28/52 |
- |
21 |
12-6018778-G-T |
c.4640C>A |
p.T1547N |
Missense |
28/52 |
- |
1 |
12-6018781-A-C |
c.4637T>G |
p.V1546G |
Missense |
28/52 |
- |
2 |
12-6018781-AC-TA |
c.4636_4637delinsTA |
p.V1546* |
Nonsense |
28/52 |
- |
1 |
12-6018787-TA-CG |
c.4630_4631delinsCG |
p.Y1544R |
Missense |
28/52 |
- |
1 |
12-6018787-TA-GC |
c.4630_4631delinsGC |
p.Y1544A |
Missense |
28/52 |
- |
1 |
12-6018788-A-C |
c.4630T>G |
p.Y1544D |
Missense |
28/52 |
- |
1 |
12-6018790-G-A |
c.4628C>T |
p.S1543F |
Missense |
28/52 |
- |
3 |
12-6018791-A-G |
c.4627T>C |
p.S1543P |
Missense |
28/52 |
- |
1 |
12-6018792-AGTACTG-A |
c.4621_4626del |
p.Q1541_Y1542del |
InFrameDeletion |
28/52 |
- |
1 |
12-6018794-TAC-T |
c.4623_4624del |
p.Y1542Lfs*45 |
Frameshift |
28/52 |
- |
1 |
12-6018795-C-A |
c.4623G>T |
p.Q1541H |
Missense |
28/52 |
- |
1 |
12-6018795-C-G |
c.4623G>C |
p.Q1541H |
Missense |
28/52 |
- |
1 |
12-6018796-T-A |
c.4622A>T |
p.Q1541L |
Missense |
28/52 |
- |
1 |
12-6018798-C-G |
c.4620G>C |
p.L1540= |
Synonymous |
28/52 |
- |
1 |
12-6018799-A-G |
c.4619T>C |
p.L1540P |
Missense |
28/52 |
- |
4 |
12-6018804-C-A |
c.4614G>T |
p.T1538= |
Synonymous |
28/52 |
- |
1 |
12-6018804-C-G |
c.4614G>C |
p.T1538= |
Synonymous |
28/52 |
- |
1 |
12-6018804-C-T |
c.4614G>A |
p.T1538= |
Synonymous |
28/52 |
- |
2 |
12-6018805-G-A |
c.4613C>T |
p.T1538M |
Missense |
28/52 |
- |
4 |
12-6018805-GTGACGTGGA-G |
c.4604_4612del |
p.I1535_V1537del |
InFrameDeletion |
28/52 |
- |
1 |
12-6018806-TGACGTG-T |
c.4606_4611del |
p.H1536_V1537del |
InFrameDeletion |
28/52 |
- |
1 |
12-6018809-C-T |
c.4609G>A |
p.V1537I |
Missense |
28/52 |
- |
2 |
12-6018813-G-T |
c.4605C>A |
p.I1535= |
Synonymous |
28/52 |
- |
1 |
12-6018817-C-T |
c.4601G>A |
p.S1534N |
Missense |
28/52 |
- |
3 |
12-6018822-C-T |
c.4596G>A |
p.Q1532= |
Synonymous |
28/52 |
- |
1 |
12-6018831-A-C |
c.4587T>G |
p.D1529E |
Missense |
28/52 |
- |
2 |
12-6018833-C-G |
c.4585G>C |
p.D1529H |
Missense |
28/52 |
- |
2 |
12-6018834-C-T |
c.4584G>A |
p.M1528I |
Missense |
28/52 |
- |
1 |
12-6018836-T-C |
c.4582A>G |
p.M1528V |
Missense |
28/52 |
- |
5 |
12-6018838-CG-TA |
c.4579_4580delinsTA |
p.R1527* |
Nonsense |
28/52 |
- |
1 |
12-6018838-C-T |
c.4580G>A |
p.R1527Q |
Missense |
28/52 |
- |
2 |
12-6018839-G-A |
c.4579C>T |
p.R1527W |
Missense |
28/52 |
- |
1 |
12-6018840-C-A |
c.4578G>T |
p.Q1526H |
Missense |
28/52 |
- |
1 |
12-6018842-G-A |
c.4576C>T |
p.Q1526* |
Nonsense |
28/52 |
- |
2 |
12-6018844-A-C |
c.4574T>G |
p.I1525S |
Missense |
28/52 |
- |
1 |
12-6018846-C-T |
c.4572G>A |
p.V1524= |
Synonymous |
28/52 |
- |
1 |
12-6018851-C-T |
c.4567G>A |
p.E1523K |
Missense |
28/52 |
- |
1 |
12-6018854-C-T |
c.4564G>A |
p.E1522K |
Missense |
28/52 |
- |
3 |
12-6018856-A-T |
c.4562T>A |
p.M1521K |
Missense |
28/52 |
- |
2 |
12-6018858-G-A |
c.4560C>T |
p.F1520= |
Synonymous |
28/52 |
- |
1 |
12-6018859-AA-GC |
c.4558_4559delinsGC |
p.F1520A |
Missense |
28/52 |
- |
1 |
12-6018860-ACTC-A |
c.4555_4557del |
p.E1519del |
InFrameDeletion |
28/52 |
- |
1 |
12-6018863-C-T |
c.4555G>A |
p.E1519K |
Missense |
28/52 |
- |
1 |
12-6018867-G-C |
c.4551C>G |
p.S1517R |
Missense |
28/52 |
- |
2 |
12-6018867-G-T |
c.4551C>A |
p.S1517R |
Missense |
28/52 |
- |
2 |
12-6018869-T-G |
c.4549A>C |
p.S1517R |
Missense |
28/52 |
- |
2 |
12-6018868-C-T |
c.4550G>A |
p.S1517N |
Missense |
28/52 |
- |
1 |
12-6018868-CT-GC |
c.4549_4550delinsGC |
p.S1517A |
Missense |
28/52 |
- |
1 |
12-6018870-C-A |
c.4548G>T |
p.R1516S |
Missense |
28/52 |
- |
2 |
12-6018870-C-G |
c.4548G>C |
p.R1516S |
Missense |
28/52 |
- |
1 |
12-6018871-C-T |
c.4547G>A |
p.R1516K |
Missense |
28/52 |
- |
1 |
12-6018871-CT-TG |
c.4546_4547delinsCA |
p.R1516Q |
Missense |
28/52 |
- |
1 |
12-6018873-GTT-TTG |
c.4543_4545delinsCAA |
p.N1515Q |
Missense |
28/52 |
- |
1 |
12-6018875-T-C |
c.4543A>G |
p.N1515D |
Missense |
28/52 |
- |
1 |
12-6018877-A-C |
c.4541T>G |
p.F1514C |
Missense |
28/52 |
- |
3 |
12-6018876-G-C |
c.4542C>G |
p.F1514L |
Missense |
28/52 |
- |
2 |
12-6018876-G-T |
c.4542C>A |
p.F1514L |
Missense |
28/52 |
- |
2 |
12-6018878-A-G |
c.4540T>C |
p.F1514L |
Missense |
28/52 |
- |
5 |
12-6018880-T-C |
c.4538A>G |
p.D1513G |
Missense |
28/52 |
- |
1 |
12-6018881-C-T |
c.4537G>A |
p.D1513N |
Missense |
28/52 |
- |
3 |
12-6018889-CC-GT |
c.4528_4529delinsAC |
p.G1510T |
Missense |
28/52 |
- |
1 |
12-6018889-C-G |
c.4529G>C |
p.G1510A |
Missense |
28/52 |
- |
1 |
12-6018893-T-C |
c.4525A>G |
p.I1509V |
Missense |
28/52 |
- |
1 |
12-6018900-C-A |
c.4518G>T |
p.S1506= |
Synonymous |
28/52 |
- |
1 |
12-6018900-C-G |
c.4518G>C |
p.S1506= |
Synonymous |
28/52 |
- |
1 |
12-6018900-CG-AT |
c.4517_4518delinsAT |
p.S1506Y |
Missense |
28/52 |
- |
1 |
12-6018900-C-T |
c.4518G>A |
p.S1506= |
Synonymous |
28/52 |
- |
2 |
12-6018901-G-A |
c.4517C>T |
p.S1506L |
Missense |
28/52 |
- |
40 |
12-6018901-G-T |
c.4517C>A |
p.S1506* |
Nonsense |
28/52 |
- |
2 |
12-6018904-C-T |
c.4514G>A |
p.G1505E |
Missense |
28/52 |
- |
3 |
12-6018905-C-G |
c.4513G>C |
p.G1505R |
Missense |
28/52 |
- |
5 |
12-6018905-C-T |
c.4513G>A |
p.G1505R |
Missense |
28/52 |
- |
4 |
12-6018908-C-T |
c.4510G>A |
p.E1504K |
Missense |
28/52 |
- |
2 |
12-6018910-A-C |
c.4508T>G |
p.L1503R |
Missense |
28/52 |
- |
3 |
12-6018910-A-G |
c.4508T>C |
p.L1503P |
Missense |
28/52 |
- |
5 |
12-6018910-A-T |
c.4508T>A |
p.L1503Q |
Missense |
28/52 |
- |
4 |
12-6018912-GAC-CAT |
c.4504_4506delinsATG |
p.V1502M |
Missense |
28/52 |
- |
1 |
12-6018913-A-C |
c.4505T>G |
p.V1502G |
Missense |
28/52 |
- |
1 |
12-6018914-C-T |
c.4504G>A |
p.V1502I |
Missense |
28/52 |
- |
5 |
12-6018915-G-A |
c.4503C>T |
p.F1501= |
Synonymous |
28/52 |
- |
5 |
12-6018916-A-G |
c.4502T>C |
p.F1501S |
Missense |
28/52 |
- |
1 |
12-6018918-C-A |
c.4500G>T |
p.A1500= |
Synonymous |
28/52 |
- |
1 |
12-6018918-C-G |
c.4500G>C |
p.A1500= |
Synonymous |
28/52 |
- |
1 |
12-6018918-CG-TA |
c.4499_4500delinsTA |
p.A1500V |
Missense |
28/52 |
- |
1 |
12-6018918-C-T |
c.4500G>A |
p.A1500= |
Synonymous |
28/52 |
- |
3 |
12-6018919-G-A |
c.4499C>T |
p.A1500V |
Missense |
28/52 |
- |
2 |
12-6018919-G-C |
c.4499C>G |
p.A1500G |
Missense |
28/52 |
- |
1 |
12-6018919-G-T |
c.4499C>A |
p.A1500E |
Missense |
28/52 |
- |
1 |
12-6018920-C-G |
c.4498G>C |
p.A1500P |
Missense |
28/52 |
- |
1 |
12-6018922-A-T |
c.4496T>A |
p.V1499E |
Missense |
28/52 |
- |
3 |
12-6018924-ATC-CAT |
c.4492_4494delinsATG |
p.D1498M |
Missense |
28/52 |
- |
1 |
12-6018925-T-G |
c.4493A>C |
p.D1498A |
Missense |
28/52 |
- |
3 |
12-6018926-C-T |
c.4492G>A |
p.D1498N |
Missense |
28/52 |
- |
1 |
12-6018927-C-T |
c.4491G>A |
p.L1497= |
Synonymous |
28/52 |
- |
1 |
12-6018939-G-A |
c.4479C>T |
p.N1493= |
Synonymous |
28/52 |
- |
1 |
12-6018940-TT-CA |
c.4477_4478delinsTG |
p.N1493C |
Missense |
28/52 |
- |
5 |
12-6018942-C-A |
c.4476G>T |
p.R1492S |
Missense |
28/52 |
- |
2 |
12-6018942-CCT-ATG |
c.4474_4476delinsCAT |
p.R1492H |
Missense |
28/52 |
- |
1 |
12-6018942-C-G |
c.4476G>C |
p.R1492S |
Missense |
28/52 |
- |
1 |
12-6018942-C-T |
c.4476G>A |
p.R1492= |
Synonymous |
28/52 |
- |
2 |
12-6018944-T-G |
c.4474A>C |
p.R1492= |
Synonymous |
28/52 |
- |
1 |
12-6018945-C-T |
c.4473G>A |
p.K1491= |
Synonymous |
28/52 |
- |
1 |
12-6018947-T-C |
c.4471A>G |
p.K1491E |
Missense |
28/52 |
- |
1 |
12-6018949-G-C |
c.4469C>G |
p.P1490R |
Missense |
28/52 |
- |
1 |
12-6018949-G-T |
c.4469C>A |
p.P1490H |
Missense |
28/52 |
- |
6 |
12-6018951-C-A |
c.4467G>T |
p.G1489= |
Synonymous |
28/52 |
- |
1 |
12-6018951-C-G |
c.4467G>C |
p.G1489= |
Synonymous |
28/52 |
- |
1 |
12-6018951-C-T |
c.4467G>A |
p.G1489= |
Synonymous |
28/52 |
- |
1 |
12-6018952-C-T |
c.4466G>A |
p.G1489E |
Missense |
28/52 |
- |
3 |
12-6018955-A-AT |
c.4462_4463insA |
p.L1488Hfs*24 |
Frameshift |
28/52 |
- |
1 |
12-6018957-G-A |
c.4461C>T |
p.T1487= |
Synonymous |
28/52 |
- |
1 |
12-6018957-G-C |
c.4461C>G |
p.T1487= |
Synonymous |
28/52 |
- |
1 |
12-6018957-G-T |
c.4461C>A |
p.T1487= |
Synonymous |
28/52 |
- |
1 |
12-6018958-G-GCCCCTGAGAACAAGGCCT |
c.4459_4460insAGGCCTTGTTCTCAGGGG |
p.T1487delinsKALFSGA |
MultiAAMissense |
28/52 |
- |
1 |
12-6018959-T-C |
c.4459A>G |
p.T1487A |
Missense |
28/52 |
- |
2 |
12-6018960-C-A |
c.4458G>T |
p.S1486= |
Synonymous |
28/52 |
- |
2 |
12-6018960-C-G |
c.4458G>C |
p.S1486= |
Synonymous |
28/52 |
- |
2 |
12-6018960-CGA-GTT |
c.4456_4458delinsAAC |
p.S1486N |
Missense |
28/52 |
- |
1 |
12-6018960-C-T |
c.4458G>A |
p.S1486= |
Synonymous |
28/52 |
- |
6 |
12-6018961-G-A |
c.4457C>T |
p.S1486L |
Missense |
28/52 |
- |
14 |
12-6018962-A-C |
c.4456T>G |
p.S1486A |
Missense |
28/52 |
- |
3 |
12-6018964-A-T |
c.4454T>A |
p.V1485D |
Missense |
28/52 |
- |
2 |
12-6018965-C-G |
c.4453G>C |
p.V1485L |
Missense |
28/52 |
- |
3 |
12-6018966-C-A |
c.4452G>T |
p.G1484= |
Synonymous |
28/52 |
- |
1 |
12-6018966-C-G |
c.4452G>C |
p.G1484= |
Synonymous |
28/52 |
- |
1 |
12-6018966-C-T |
c.4452G>A |
p.G1484= |
Synonymous |
28/52 |
- |
2 |
12-6018966-C-CCTGGGG |
c.4451_4452insCCCCAG |
p.G1484_V1485insPR |
InFrameInsertion |
28/52 |
- |
1 |
12-6018967-C-T |
c.4451G>A |
p.G1484E |
Missense |
28/52 |
- |
3 |
12-6018968-C-G |
c.4450G>C |
p.G1484R |
Missense |
28/52 |
- |
1 |
12-6018968-C-T |
c.4450G>A |
p.G1484R |
Missense |
28/52 |
- |
1 |
12-6018964-AC-A |
c.4453del |
p.V1485Ffs*40 |
Frameshift |
28/52 |
- |
2 |
12-6018975-C-A |
c.4443G>T |
p.G1481= |
Synonymous |
28/52 |
- |
2 |
12-6018976-C-G |
c.4442G>C |
p.G1481A |
Missense |
28/52 |
- |
1 |
12-6018979-G-A |
c.4439C>T |
p.P1480L |
Missense |
28/52 |
- |
3 |
12-6018980-G-A |
c.4438C>T |
p.P1480S |
Missense |
28/52 |
- |
1 |
12-6018982-CC-GT |
c.4435_4436delinsAC |
p.G1479T |
Missense |
28/52 |
- |
1 |
12-6018982-C-T |
c.4436G>A |
p.G1479D |
Missense |
28/52 |
- |
1 |
12-6018989-T-C |
c.4429A>G |
p.T1477A |
Missense |
28/52 |
- |
3 |
12-6018995-G-A |
c.4423C>T |
p.Q1475* |
Nonsense |
28/52 |
- |
2 |
12-6018995-G-C |
c.4423C>G |
p.Q1475E |
Missense |
28/52 |
- |
1 |
12-6018996-T-C |
c.4422A>G |
p.A1474= |
Synonymous |
28/52 |
- |
1 |
12-6018997-G-A |
c.4421C>T |
p.A1474V |
Missense |
28/52 |
- |
2 |
12-6018997-G-C |
c.4421C>G |
p.A1474G |
Missense |
28/52 |
- |
1 |
12-6018998-C-T |
c.4420G>A |
p.A1474T |
Missense |
28/52 |
- |
3 |
12-6018999-C-T |
c.4419G>A |
p.M1473I |
Missense |
28/52 |
- |
5 |
12-6019000-A-G |
c.4418T>C |
p.M1473T |
Missense |
28/52 |
- |
1 |
12-6019001-T-C |
c.4417A>G |
p.M1473V |
Missense |
28/52 |
- |
1 |
12-6019002-G-A |
c.4416C>T |
p.D1472= |
Synonymous |
28/52 |
- |
2 |
12-6019002-GTC-TTG |
c.4414_4416delinsCAA |
p.D1472Q |
Missense |
28/52 |
- |
1 |
12-6019003-TC-AG |
c.4414_4415delinsCT |
p.D1472L |
Missense |
28/52 |
- |
1 |
12-6019004-C-A |
c.4414G>T |
p.D1472Y |
Missense |
28/52 |
- |
5 |
12-6019004-C-G |
c.4414G>C |
p.D1472H |
Missense |
28/52 |
- |
67 |
12-6019004-C-GG |
c.4414delinsCC |
p.D1472Pfs*40 |
Frameshift |
28/52 |
- |
1 |
12-6019004-C-T |
c.4414G>A |
p.D1472N |
Missense |
28/52 |
- |
5 |
12-6019004-TC-T |
c.4414del |
p.D1472Tfs*53 |
Frameshift |
28/52 |
- |
3 |
12-6019006-G-A |
c.4412C>T |
p.P1471L |
Missense |
28/52 |
- |
2 |
12-6019006-GG-AA |
c.4411_4412delinsTT |
p.P1471F |
Missense |
28/52 |
- |
3 |
12-6019007-G-A |
c.4411C>T |
p.P1471S |
Missense |
28/52 |
- |
3 |
12-6019009-G-C |
c.4409C>G |
p.P1470R |
Missense |
28/52 |
- |
1 |
12-6019004-C-CG |
c.4413dup |
p.D1472Rfs*40 |
Frameshift |
28/52 |
- |
3 |
12-6019004-CG-C |
c.4413del |
p.D1472Tfs*53 |
Frameshift |
28/52 |
- |
1 |
12-6019013-G-A |
c.4405C>T |
p.L1469= |
Synonymous |
28/52 |
- |
1 |
12-6019013-G-T |
c.4405C>A |
p.L1469M |
Missense |
28/52 |
- |
1 |
12-6019015-G-A |
c.4403C>T |
p.T1468I |
Missense |
28/52 |
- |
1 |
12-6019016-T-C |
c.4402A>G |
p.T1468A |
Missense |
28/52 |
- |
3 |
12-6019016-T-G |
c.4402A>C |
p.T1468P |
Missense |
28/52 |
- |
1 |
12-6019019-G-A |
c.4399C>T |
p.P1467S |
Missense |
28/52 |
- |
10 |
12-6019022-G-A |
c.4396C>T |
p.P1466S |
Missense |
28/52 |
- |
1 |
12-6019022-G-C |
c.4396C>G |
p.P1466A |
Missense |
28/52 |
- |
1 |
12-6019024-G-A |
c.4394C>T |
p.P1465L |
Missense |
28/52 |
- |
2 |
12-6019025-G-A |
c.4393C>T |
p.P1465S |
Missense |
28/52 |
- |
1 |
12-6019027-G-A |
c.4391C>T |
p.A1464V |
Missense |
28/52 |
- |
2 |
12-6019029-T-A |
c.4389A>T |
p.E1463D |
Missense |
28/52 |
- |
1 |
12-6019029-T-G |
c.4389A>C |
p.E1463D |
Missense |
28/52 |
- |
1 |
12-6019031-C-T |
c.4387G>A |
p.E1463K |
Missense |
28/52 |
- |
1 |
12-6019034-G-C |
c.4384C>G |
p.P1462A |
Missense |
28/52 |
- |
1 |
12-6019036-G-A |
c.4382C>T |
p.A1461V |
Missense |
28/52 |
- |
4 |
12-6019036-G-T |
c.4382C>A |
p.A1461D |
Missense |
28/52 |
- |
2 |
12-6019037-C-G |
c.4381G>C |
p.A1461P |
Missense |
28/52 |
- |
1 |
12-6019040-G-A |
c.4378C>T |
p.L1460F |
Missense |
28/52 |
- |
2 |
12-6019040-G-C |
c.4378C>G |
p.L1460V |
Missense |
28/52 |
- |
3 |
12-6019042-T-A |
c.4376A>T |
p.D1459V |
Missense |
28/52 |
- |
2 |
12-6019045-CA-GC |
c.4372_4373delinsGC |
p.C1458A |
Missense |
28/52 |
- |
1 |
12-6019045-C-T |
c.4373G>A |
p.C1458Y |
Missense |
28/52 |
- |
4 |
12-6019046-A-C |
c.4372T>G |
p.C1458G |
Missense |
28/52 |
- |
1 |
12-6019046-A-G |
c.4372T>C |
p.C1458R |
Missense |
28/52 |
- |
1 |
12-6019049-G-T |
c.4369C>A |
p.L1457I |
Missense |
28/52 |
- |
3 |
12-6019050-G-C |
c.4368C>G |
p.Y1456* |
Nonsense |
28/52 |
- |
1 |
12-6019052-A-C |
c.4366T>G |
p.Y1456D |
Missense |
28/52 |
- |
1 |
12-6019056-AA-CT |
c.4361_4362delinsAG |
p.V1454E |
Missense |
28/52 |
- |
1 |
12-6019058-C-A |
c.4360G>T |
p.V1454F |
Missense |
28/52 |
- |
1 |
12-6019058-C-T |
c.4360G>A |
p.V1454I |
Missense |
28/52 |
- |
3 |
12-6019059-G-A |
c.4359C>T |
p.I1453= |
Synonymous |
28/52 |
- |
1 |
12-6019060-A-T |
c.4358T>A |
p.I1453N |
Missense |
28/52 |
- |
1 |
12-6019064-C-T |
c.4354G>A |
p.E1452K |
Missense |
28/52 |
- |
1 |
12-6019065-G-C |
c.4353C>G |
p.D1451E |
Missense |
28/52 |
- |
1 |
12-6019065-G-T |
c.4353C>A |
p.D1451E |
Missense |
28/52 |
- |
1 |
12-6019066-T-C |
c.4352A>G |
p.D1451G |
Missense |
28/52 |
- |
1 |
12-6019069-C-T |
c.4349G>A |
p.R1450K |
Missense |
28/52 |
- |
6 |
12-6019069-CT-TC |
c.4348_4349delinsGA |
p.R1450E |
Missense |
28/52 |
- |
12 |
12-6019070-T-A |
c.4348A>T |
p.R1450W |
Missense |
28/52 |
- |
1 |
12-6019073-G-A |
c.4345C>T |
p.Q1449* |
Nonsense |
28/52 |
- |
2 |
12-6019077-C-T |
c.4341G>A |
p.E1447= |
Synonymous |
28/52 |
- |
1 |
12-6019079-C-G |
c.4339G>C |
p.E1447Q |
Missense |
28/52 |
- |
1 |
12-6019079-C-T |
c.4339G>A |
p.E1447K |
Missense |
28/52 |
- |
1 |
12-6019081-A-G |
c.4337T>C |
p.L1446P |
Missense |
28/52 |
- |
1 |
12-6019088-C-T |
c.4330G>A |
p.D1444N |
Missense |
28/52 |
- |
4 |
12-6019092-A-C |
c.4326T>G |
p.S1442R |
Missense |
28/52 |
- |
1 |
12-6019092-A-T |
c.4326T>A |
p.S1442R |
Missense |
28/52 |
- |
1 |
12-6019094-T-G |
c.4324A>C |
p.S1442R |
Missense |
28/52 |
- |
1 |
12-6019093-C-A |
c.4325G>T |
p.S1442I |
Missense |
28/52 |
- |
1 |
12-6019093-C-T |
c.4325G>A |
p.S1442N |
Missense |
28/52 |
- |
1 |
12-6019093-CT-AA |
c.4324_4325delinsTT |
p.S1442F |
Missense |
28/52 |
- |
1 |
12-6019101-C-A |
c.4317G>T |
p.V1439= |
Synonymous |
28/52 |
- |
1 |
12-6019101-C-G |
c.4317G>C |
p.V1439= |
Synonymous |
28/52 |
- |
1 |
12-6019101-C-T |
c.4317G>A |
p.V1439= |
Synonymous |
28/52 |
- |
1 |
12-6019103-C-A |
c.4315G>T |
p.V1439L |
Missense |
28/52 |
- |
1 |
12-6019103-C-G |
c.4315G>C |
p.V1439L |
Missense |
28/52 |
- |
1 |
12-6019103-C-T |
c.4315G>A |
p.V1439M |
Missense |
28/52 |
- |
9 |
12-6019104-G-A |
c.4314C>T |
p.F1438= |
Synonymous |
28/52 |
- |
6 |
12-6019105-A-C |
c.4313T>G |
p.F1438C |
Missense |
28/52 |
- |
1 |
12-6019109-C-T |
c.4309G>A |
p.A1437T |
Missense |
28/52 |
- |
5 |
12-6019111-T-C |
c.4307A>G |
p.K1436R |
Missense |
28/52 |
- |
1 |
12-6019114-T-C |
c.4304A>G |
p.N1435S |
Missense |
28/52 |
- |
10 |
12-6019120-G-T |
c.4298C>A |
p.P1433H |
Missense |
28/52 |
- |
2 |
12-6019123-G-A |
c.4295C>T |
p.A1432V |
Missense |
28/52 |
- |
1 |
12-6019124-C-T |
c.4294G>A |
p.A1432T |
Missense |
28/52 |
- |
2 |
12-6019128-C-A |
c.4290G>T |
p.K1430N |
Missense |
28/52 |
- |
1 |
12-6019128-C-G |
c.4290G>C |
p.K1430N |
Missense |
28/52 |
- |
1 |
12-6019128-C-T |
c.4290G>A |
p.K1430= |
Synonymous |
28/52 |
- |
2 |
12-6019129-TT-GC |
c.4288_4289delinsGC |
p.K1430A |
Missense |
28/52 |
- |
3 |
12-6019132-T-C |
c.4286A>G |
p.E1429G |
Missense |
28/52 |
- |
1 |
12-6019133-C-T |
c.4285G>A |
p.E1429K |
Missense |
28/52 |
- |
4 |
12-6019134-G-A |
c.4284C>T |
p.I1428= |
Synonymous |
28/52 |
- |
2 |
12-6019136-T-C |
c.4282A>G |
p.I1428V |
Missense |
28/52 |
- |
1 |
12-6019138-A-C |
c.4280T>G |
p.L1427R |
Missense |
28/52 |
- |
1 |
12-6019139-G-A |
c.4279C>T |
p.L1427F |
Missense |
28/52 |
- |
1 |
12-6019139-G-C |
c.4279C>G |
p.L1427V |
Missense |
28/52 |
- |
1 |
12-6019140-GC-TT |
c.4277_4278delinsAA |
p.R1426Q |
Missense |
28/52 |
- |
1 |
12-6019141-C-G |
c.4277G>C |
p.R1426P |
Missense |
28/52 |
- |
2 |
12-6019141-CG-AA |
c.4276_4277delinsTT |
p.R1426F |
Missense |
28/52 |
- |
1 |
12-6019141-CG-GC |
c.4276_4277delinsGC |
p.R1426A |
Missense |
28/52 |
- |
2 |
12-6019141-C-T |
c.4277G>A |
p.R1426H |
Missense |
28/52 |
- |
3 |
12-6019142-G-A |
c.4276C>T |
p.R1426C |
Missense |
28/52 |
- |
4 |
12-6019142-G-T |
c.4276C>A |
p.R1426S |
Missense |
28/52 |
- |
1 |
12-6019145-T-A |
c.4273A>T |
p.I1425F |
Missense |
28/52 |
- |
11 |
12-6019150-TT-GC |
c.4267_4268delinsGC |
p.K1423A |
Missense |
28/52 |
- |
3 |
12-6019155-G-C |
c.4263C>G |
p.N1421K |
Missense |
28/52 |
- |
1 |
12-6019155-G-T |
c.4263C>A |
p.N1421K |
Missense |
28/52 |
- |
1 |
12-6019156-T-G |
c.4262A>C |
p.N1421T |
Missense |
28/52 |
- |
1 |
12-6019159-G-A |
c.4259C>T |
p.A1420V |
Missense |
28/52 |
- |
1 |
12-6019160-C-T |
c.4258G>A |
p.A1420T |
Missense |
28/52 |
- |
3 |
12-6019161-A-C |
c.4257T>G |
p.H1419Q |
Missense |
28/52 |
- |
3 |
12-6019161-A-T |
c.4257T>A |
p.H1419Q |
Missense |
28/52 |
- |
2 |
12-6019162-TG-GC |
c.4255_4256delinsGC |
p.H1419A |
Missense |
28/52 |
- |
1 |
12-6019163-G-T |
c.4255C>A |
p.H1419N |
Missense |
28/52 |
- |
2 |
12-6019166-G-A |
c.4252C>T |
p.P1418S |
Missense |
28/52 |
- |
1 |
12-6019166-G-T |
c.4252C>A |
p.P1418T |
Missense |
28/52 |
- |
1 |
12-6019169-C-A |
c.4249G>T |
p.G1417W |
Missense |
28/52 |
- |
2 |
12-6019170-A-C |
c.4248T>G |
p.I1416M |
Missense |
28/52 |
- |
1 |
12-6019171-A-G |
c.4247T>C |
p.I1416T |
Missense |
28/52 |
- |
6 |
12-6019171-A-T |
c.4247T>A |
p.I1416N |
Missense |
28/52 |
- |
6 |
12-6019174-C-A |
c.4244G>T |
p.G1415V |
Missense |
28/52 |
- |
1 |
12-6019174-C-G |
c.4244G>C |
p.G1415A |
Missense |
28/52 |
- |
1 |
12-6019174-C-T |
c.4244G>A |
p.G1415D |
Missense |
28/52 |
- |
4 |
12-6019175-C-A |
c.4243G>T |
p.G1415C |
Missense |
28/52 |
- |
1 |
12-6019175-C-T |
c.4243G>A |
p.G1415S |
Missense |
28/52 |
- |
3 |
12-6019177-A-C |
c.4241T>G |
p.V1414G |
Missense |
28/52 |
- |
2 |
12-6019177-A-T |
c.4241T>A |
p.V1414E |
Missense |
28/52 |
- |
2 |
12-6019178-C-T |
c.4240G>A |
p.V1414M |
Missense |
28/52 |
- |
1 |
12-6019179-C-A |
c.4239G>T |
p.P1413= |
Synonymous |
28/52 |
- |
1 |
12-6019179-C-G |
c.4239G>C |
p.P1413= |
Synonymous |
28/52 |
- |
1 |
12-6019179-C-T |
c.4239G>A |
p.P1413= |
Synonymous |
28/52 |
- |
1 |
12-6019180-G-A |
c.4238C>T |
p.P1413L |
Missense |
28/52 |
- |
7 |
12-6019183-A-G |
c.4235T>C |
p.I1412T |
Missense |
28/52 |
- |
1 |
12-6019187-C-A |
c.4231G>T |
p.V1411L |
Missense |
28/52 |
- |
1 |
12-6019187-C-G |
c.4231G>C |
p.V1411L |
Missense |
28/52 |
- |
1 |
12-6019189-A-G |
c.4229T>C |
p.I1410T |
Missense |
28/52 |
- |
1 |
12-6019190-T-C |
c.4228A>G |
p.I1410V |
Missense |
28/52 |
- |
1 |
12-6019192-AC-GT |
c.4225_4226inv |
p.V1409T |
Missense |
28/52 |
- |
1 |
12-6019193-C-A |
c.4225G>T |
p.V1409F |
Missense |
28/52 |
- |
2 |
12-6019193-C-T |
c.4225G>A |
p.V1409I |
Missense |
28/52 |
- |
3 |
12-6019194-C-A |
c.4224G>T |
p.K1408N |
Missense |
28/52 |
- |
1 |
12-6019194-C-G |
c.4224G>C |
p.K1408N |
Missense |
28/52 |
- |
1 |
12-6019195-TT-GC |
c.4222_4223delinsGC |
p.K1408A |
Missense |
28/52 |
- |
1 |
12-6019196-T-C |
c.4222A>G |
p.K1408E |
Missense |
28/52 |
- |
1 |
12-6019196-T-G |
c.4222A>C |
p.K1408Q |
Missense |
28/52 |
- |
1 |
12-6019196-T-TA |
c.4221_4222insT |
p.K1408* |
Nonsense |
28/52 |
- |
2 |
12-6019200-C-A |
c.4218G>T |
p.K1406N |
Missense |
28/52 |
- |
1 |
12-6019200-C-G |
c.4218G>C |
p.K1406N |
Missense |
28/52 |
- |
1 |
12-6019200-C-T |
c.4218G>A |
p.K1406= |
Synonymous |
28/52 |
- |
1 |
12-6019201-T-C |
c.4217A>G |
p.K1406R |
Missense |
28/52 |
- |
1 |
12-6019201-TT-GC |
c.4216_4217delinsGC |
p.K1406A |
Missense |
28/52 |
- |
2 |
12-6019203-C-A |
c.4215G>T |
p.K1405N |
Missense |
28/52 |
- |
1 |
12-6019203-C-G |
c.4215G>C |
p.K1405N |
Missense |
28/52 |
- |
1 |
12-6019203-C-T |
c.4215G>A |
p.K1405= |
Synonymous |
28/52 |
- |
1 |
12-6019193-CCTT-C |
c.4222_4224del |
p.K1408del |
InFrameDeletion |
28/52 |
- |
5 |
12-6019206-C-A |
c.4212G>T |
p.L1404= |
Synonymous |
28/52 |
- |
1 |
12-6019206-C-G |
c.4212G>C |
p.L1404= |
Synonymous |
28/52 |
- |
1 |
12-6019206-C-T |
c.4212G>A |
p.L1404= |
Synonymous |
28/52 |
- |
1 |
12-6019208-G-A |
c.4210C>T |
p.L1404= |
Synonymous |
28/52 |
- |
1 |
12-6019209-G-A |
c.4209C>T |
p.G1403= |
Synonymous |
28/52 |
- |
1 |
12-6019212-CCTGGACGTAGCGGACAAAGTTCCGGGACATCCG-C |
c.4174_4206del |
p.R1392_Q1402del |
InFrameDeletion |
28/52 |
- |
1 |
12-6019212-C-T |
c.4206G>A |
p.Q1402= |
Synonymous |
28/52 |
- |
1 |
12-6019213-T-C |
c.4205A>G |
p.Q1402R |
Missense |
28/52 |
- |
3 |
12-6019213-T-G |
c.4205A>C |
p.Q1402P |
Missense |
28/52 |
- |
5 |
12-6019214-G-T |
c.4204C>A |
p.Q1402K |
Missense |
28/52 |
- |
1 |
12-6019216-A-C |
c.4202T>G |
p.V1401G |
Missense |
28/52 |
- |
1 |
12-6019217-C-T |
c.4201G>A |
p.V1401I |
Missense |
28/52 |
- |
7 |
12-6019219-T-C |
c.4199A>G |
p.Y1400C |
Missense |
28/52 |
- |
1 |
12-6019220-A-G |
c.4198T>C |
p.Y1400H |
Missense |
28/52 |
- |
1 |
12-6019221-GCG-CTC |
c.4195_4197delinsGAG |
p.R1399E |
Missense |
28/52 |
- |
1 |
12-6019222-C-A |
c.4196G>T |
p.R1399L |
Missense |
28/52 |
- |
2 |
12-6019222-CG-GC |
c.4195_4196delinsGC |
p.R1399A |
Missense |
28/52 |
- |
7 |
12-6019222-C-T |
c.4196G>A |
p.R1399H |
Missense |
28/52 |
- |
27 |
12-6019223-G-A |
c.4195C>T |
p.R1399C |
Missense |
28/52 |
- |
10 |
12-6019226-C-T |
c.4192G>A |
p.V1398I |
Missense |
28/52 |
- |
2 |
12-6019231-T-A |
c.4187A>T |
p.N1396I |
Missense |
28/52 |
- |
1 |
12-6019231-T-C |
c.4187A>G |
p.N1396S |
Missense |
28/52 |
- |
1 |
12-6019232-T-G |
c.4186A>C |
p.N1396H |
Missense |
28/52 |
- |
1 |
12-6019233-C-A |
c.4185G>T |
p.R1395= |
Synonymous |
28/52 |
- |
2 |
12-6019233-C-T |
c.4185G>A |
p.R1395= |
Synonymous |
28/52 |
- |
2 |
12-6019234-CG-GC |
c.4183_4184delinsGC |
p.R1395A |
Missense |
28/52 |
- |
6 |
12-6019234-C-T |
c.4184G>A |
p.R1395Q |
Missense |
28/52 |
- |
2 |
12-6019233-C-G |
c.4185G>C |
p.R1395= |
Synonymous |
28/52 |
- |
1 |
12-6019235-G-A |
c.4183C>T |
p.R1395W |
Missense |
28/52 |
- |
3 |
12-6019235-G-T |
c.4183C>A |
p.R1395= |
Synonymous |
28/52 |
- |
1 |
12-6019237-G-A |
c.4181C>T |
p.S1394F |
Missense |
28/52 |
- |
2 |
12-6019241-T-A |
c.4177A>T |
p.M1393L |
Missense |
28/52 |
- |
1 |
12-6019241-T-C |
c.4177A>G |
p.M1393V |
Missense |
28/52 |
- |
1 |
12-6019241-T-G |
c.4177A>C |
p.M1393L |
Missense |
28/52 |
- |
1 |
12-6019243-CG-GC |
c.4174_4175delinsGC |
p.R1392A |
Missense |
28/52 |
- |
6 |
12-6019243-CG-TC |
c.4174_4175delinsGA |
p.R1392E |
Missense |
28/52 |
- |
1 |
12-6019243-C-T |
c.4175G>A |
p.R1392Q |
Missense |
28/52 |
- |
1 |
12-6019244-G-A |
c.4174C>T |
p.R1392W |
Missense |
28/52 |
- |
6 |
12-6019244-G-T |
c.4174C>A |
p.R1392= |
Synonymous |
28/52 |
- |
1 |
12-6019245-T-C |
c.4173A>G |
p.Q1391= |
Synonymous |
28/52 |
- |
1 |
12-6019246-T-G |
c.4172A>C |
p.Q1391P |
Missense |
28/52 |
- |
3 |
12-6019250-G-A |
c.4168C>T |
p.P1390S |
Missense |
28/52 |
- |
1 |
12-6019251-C-T |
c.4167G>A |
p.E1389= |
Synonymous |
28/52 |
- |
1 |
12-6019253-C-G |
c.4165G>C |
p.E1389Q |
Missense |
28/52 |
- |
3 |
12-6019253-C-T |
c.4165G>A |
p.E1389K |
Missense |
28/52 |
- |
1 |
12-6019252-T-TCCCTGGCTGGCCATCAGGAGCAGGG |
c.4165_4166insCCCTGCTCCTGATGGCCAGCCAGGG |
p.E1389Afs*54 |
Frameshift |
28/52 |
- |
1 |
12-6019255-T-C |
c.4163A>G |
p.Q1388R |
Missense |
28/52 |
- |
1 |
12-6019256-G-A |
c.4162C>T |
p.Q1388* |
Nonsense |
28/52 |
- |
1 |
12-6019258-C-A |
c.4160G>T |
p.S1387I |
Missense |
28/52 |
- |
5 |
12-6019261-G-T |
c.4157C>A |
p.A1386D |
Missense |
28/52 |
- |
1 |
12-6019269-G-A |
c.4149C>T |
p.L1383= |
Synonymous |
28/52 |
- |
1 |
12-6019269-G-C |
c.4149C>G |
p.L1383= |
Synonymous |
28/52 |
- |
1 |
12-6019269-G-T |
c.4149C>A |
p.L1383= |
Synonymous |
28/52 |
- |
1 |
12-6019271-G-A |
c.4147C>T |
p.L1383F |
Missense |
28/52 |
- |
1 |
12-6019272-C-A |
c.4146G>T |
p.L1382= |
Synonymous |
28/52 |
- |
2 |
12-6019272-C-T |
c.4146G>A |
p.L1382= |
Synonymous |
28/52 |
- |
4 |
12-6019273-A-G |
c.4145T>C |
p.L1382P |
Missense |
28/52 |
- |
3 |
12-6019273-A-T |
c.4145T>A |
p.L1382Q |
Missense |
28/52 |
- |
1 |
12-6019275-G-A |
c.4143C>T |
p.T1381= |
Synonymous |
28/52 |
- |
2 |
12-6019275-G-C |
c.4143C>G |
p.T1381= |
Synonymous |
28/52 |
- |
2 |
12-6019275-G-T |
c.4143C>A |
p.T1381= |
Synonymous |
28/52 |
- |
2 |
12-6019276-GT-CA |
c.4141_4142delinsTG |
p.T1381C |
Missense |
28/52 |
- |
1 |
12-6019277-T-A |
c.4141A>T |
p.T1381S |
Missense |
28/52 |
- |
11 |
12-6019277-T-C |
c.4141A>G |
p.T1381A |
Missense |
28/52 |
- |
49 |
12-6019278-G-A |
c.4140C>T |
p.I1380= |
Synonymous |
28/52 |
- |
3 |
12-6019280-T-C |
c.4138A>G |
p.I1380V |
Missense |
28/52 |
- |
11 |
12-6019282-C-A |
c.4136G>T |
p.R1379L |
Missense |
28/52 |
- |
1 |
12-6019282-C-T |
c.4136G>A |
p.R1379H |
Missense |
28/52 |
- |
3 |
12-6019283-G-A |
c.4135C>T |
p.R1379C |
Missense |
28/52 |
- |
20 |
12-6019285-G-A |
c.4133C>T |
p.S1378F |
Missense |
28/52 |
- |
9 |
12-6019286-A-G |
c.4132T>C |
p.S1378P |
Missense |
28/52 |
- |
1 |
12-6019287-G-A |
c.4131C>T |
p.A1377= |
Synonymous |
28/52 |
- |
1 |
12-6019288-G-A |
c.4130C>T |
p.A1377V |
Missense |
28/52 |
- |
11 |
12-6019290-T-A |
c.4128A>T |
p.E1376D |
Missense |
28/52 |
- |
1 |
12-6019290-T-G |
c.4128A>C |
p.E1376D |
Missense |
28/52 |
- |
1 |
12-6019291-T-G |
c.4127A>C |
p.E1376A |
Missense |
28/52 |
- |
2 |
12-6019295-G-A |
c.4123C>T |
p.P1375S |
Missense |
28/52 |
- |
3 |
12-6019296-GCG-CCA |
c.4120_4122delinsTGG |
p.R1374W |
Missense |
28/52 |
- |
1 |
12-6019297-C-A |
c.4121G>T |
p.R1374L |
Missense |
28/52 |
- |
5 |
12-6019297-CG-GC |
c.4120_4121delinsGC |
p.R1374A |
Missense |
28/52 |
- |
1 |
12-6019297-C-T |
c.4121G>A |
p.R1374H |
Missense |
28/52 |
- |
27 |
12-6019298-G-A |
c.4120C>T |
p.R1374C |
Missense |
28/52 |
- |
30 |
12-6019298-G-T |
c.4120C>A |
p.R1374S |
Missense |
28/52 |
- |
1 |
12-6019301-C-A |
c.4117G>T |
p.D1373Y |
Missense |
28/52 |
- |
1 |
12-6019302-G-C |
c.4116C>G |
p.I1372M |
Missense |
28/52 |
- |
1 |
12-6019303-A-C |
c.4115T>G |
p.I1372S |
Missense |
28/52 |
- |
10 |
12-6019303-A-G |
c.4115T>C |
p.I1372T |
Missense |
28/52 |
- |
3 |
12-6019305-CTT-GTC |
c.4111_4113delinsGAC |
p.K1371D |
Missense |
28/52 |
- |
1 |
12-6019306-TT-GC |
c.4111_4112delinsGC |
p.K1371A |
Missense |
28/52 |
- |
2 |
12-6019311-G-A |
c.4107C>T |
p.F1369= |
Synonymous |
28/52 |
- |
1 |
12-6019311-G-T |
c.4107C>A |
p.F1369L |
Missense |
28/52 |
- |
2 |
12-6019311-G-C |
c.4107C>G |
p.F1369L |
Missense |
28/52 |
- |
1 |
12-6019313-A-G |
c.4105T>C |
p.F1369L |
Missense |
28/52 |
- |
2 |
12-6019313-A-T |
c.4105T>A |
p.F1369I |
Missense |
28/52 |
- |
16 |
12-6019315-A-G |
c.4103T>C |
p.I1368T |
Missense |
28/52 |
- |
1 |
12-6019317-T-C |
c.4101A>G |
p.Q1367= |
Synonymous |
28/52 |
- |
1 |
12-6019321-AA-GC |
c.4096_4097delinsGC |
p.F1366A |
Missense |
28/52 |
- |
2 |
12-6019320-G-C |
c.4098C>G |
p.F1366L |
Missense |
28/52 |
- |
1 |
12-6019320-G-T |
c.4098C>A |
p.F1366L |
Missense |
28/52 |
- |
1 |
12-6019322-A-G |
c.4096T>C |
p.F1366L |
Missense |
28/52 |
- |
1 |
12-6019324-A-G |
c.4094T>C |
p.L1365P |
Missense |
28/52 |
- |
2 |
12-6019324-A-T |
c.4094T>A |
p.L1365Q |
Missense |
28/52 |
- |
1 |
12-6019328-T-A |
c.4090A>T |
p.T1364S |
Missense |
28/52 |
- |
1 |
12-6019333-T-G |
c.4085A>C |
p.K1362T |
Missense |
28/52 |
- |
2 |
12-6019333-TT-GC |
c.4084_4085delinsGC |
p.K1362A |
Missense |
28/52 |
- |
4 |
12-6019336-A-G |
c.4082T>C |
p.L1361S |
Missense |
28/52 |
- |
1 |
12-6019338-G-A |
c.4080C>T |
p.V1360= |
Synonymous |
28/52 |
- |
1 |
12-6019339-A-G |
c.4079T>C |
p.V1360A |
Missense |
28/52 |
- |
8 |
12-6019340-C-T |
c.4078G>A |
p.V1360I |
Missense |
28/52 |
- |
1 |
12-6019343-C-T |
c.4075G>A |
p.E1359K |
Missense |
28/52 |
- |
8 |
12-6019345-C-T |
c.4073G>A |
p.S1358N |
Missense |
28/52 |
- |
2 |
12-6019348-G-C |
c.4070C>G |
p.T1357S |
Missense |
28/52 |
- |
1 |
12-6019349-T-A |
c.4069A>T |
p.T1357S |
Missense |
28/52 |
- |
1 |
12-6019356-CAC-GAT |
c.4060_4062delinsATC |
p.V1354I |
Missense |
28/52 |
- |
1 |
12-6019361-G-C |
c.4057C>G |
p.Q1353E |
Missense |
28/52 |
- |
1 |
12-6019366-C-G |
c.4052G>C |
p.G1351A |
Missense |
28/52 |
- |
1 |
12-6019366-C-T |
c.4052G>A |
p.G1351D |
Missense |
28/52 |
- |
1 |
12-6019367-C-T |
c.4051G>A |
p.G1351S |
Missense |
28/52 |
- |
1 |
12-6019369-G-A |
c.4049C>T |
p.A1350V |
Missense |
28/52 |
- |
9 |
12-6019372-T-C |
c.4046A>G |
p.Y1349C |
Missense |
28/52 |
- |
3 |
12-6019375-TT-GC |
c.4042_4043delinsGC |
p.K1348A |
Missense |
28/52 |
- |
3 |
12-6019377-C-T |
c.4041G>A |
p.V1347= |
Synonymous |
28/52 |
- |
1 |
12-6019378-A-G |
c.4040T>C |
p.V1347A |
Missense |
28/52 |
- |
2 |
12-6019379-C-T |
c.4039G>A |
p.V1347M |
Missense |
28/52 |
- |
1 |
12-6019381-T-C |
c.4037A>G |
p.Q1346R |
Missense |
28/52 |
- |
1 |
12-6019384-C-T |
c.4034G>A |
p.S1345N |
Missense |
28/52 |
- |
1 |
12-6019386-G-A |
c.4032C>T |
p.A1344= |
Synonymous |
28/52 |
- |
3 |
12-6019386-G-C |
c.4032C>G |
p.A1344= |
Synonymous |
28/52 |
- |
1 |
12-6019386-G-T |
c.4032C>A |
p.A1344= |
Synonymous |
28/52 |
- |
1 |
12-6019387-G-A |
c.4031C>T |
p.A1344V |
Missense |
28/52 |
- |
1 |
12-6019391-T-C |
c.4027A>G |
p.I1343V |
Missense |
28/52 |
- |
10 |
12-6019393-C-G |
c.4025G>C |
p.R1342P |
Missense |
28/52 |
- |
2 |
12-6019393-C-T |
c.4025G>A |
p.R1342H |
Missense |
28/52 |
- |
8 |
12-6019394-G-A |
c.4024C>T |
p.R1342C |
Missense |
28/52 |
- |
7 |
12-6019395-CCG-GTC |
c.4021_4023delinsGAC |
p.R1341D |
Missense |
28/52 |
- |
1 |
12-6019396-C-A |
c.4022G>T |
p.R1341L |
Missense |
28/52 |
- |
1 |
12-6019396-C-G |
c.4022G>C |
p.R1341P |
Missense |
28/52 |
- |
2 |
12-6019396-C-T |
c.4022G>A |
p.R1341Q |
Missense |
28/52 |
- |
23 |
12-6019397-G-A |
c.4021C>T |
p.R1341W |
Missense |
28/52 |
- |
15 |
12-6019401-C-T |
c.4017G>A |
p.E1339= |
Synonymous |
28/52 |
- |
1 |
12-6019402-T-A |
c.4016A>T |
p.E1339V |
Missense |
28/52 |
- |
1 |
12-6019405-G-C |
c.4013C>G |
p.S1338* |
Nonsense |
28/52 |
- |
1 |
12-6019405-G-T |
c.4013C>A |
p.S1338* |
Nonsense |
28/52 |
- |
1 |
12-6019406-A-C |
c.4012T>G |
p.S1338A |
Missense |
28/52 |
- |
1 |
12-6019407-C-A |
c.4011G>T |
p.P1337= |
Synonymous |
28/52 |
- |
1 |
12-6019407-C-G |
c.4011G>C |
p.P1337= |
Synonymous |
28/52 |
- |
1 |
12-6019407-C-T |
c.4011G>A |
p.P1337= |
Synonymous |
28/52 |
- |
5 |
12-6019408-G-A |
c.4010C>T |
p.P1337L |
Missense |
28/52 |
- |
19 |
12-6019408-G-T |
c.4010C>A |
p.P1337Q |
Missense |
28/52 |
- |
1 |
12-6019409-G-A |
c.4009C>T |
p.P1337S |
Missense |
28/52 |
- |
1 |
12-6019409-G-T |
c.4009C>A |
p.P1337T |
Missense |
28/52 |
- |
1 |
12-6019410-TCG-ACA |
c.4006_4008delinsTGT |
p.R1336C |
Missense |
28/52 |
- |
1 |
12-6019410-TCG-CCA |
c.4006_4008delinsTGG |
p.R1336W |
Missense |
28/52 |
- |
1 |
12-6019410-TCG-GTC |
c.4006_4008delinsGAC |
p.R1336D |
Missense |
28/52 |
- |
1 |
12-6019411-CG-GC |
c.4006_4007delinsGC |
p.R1336A |
Missense |
28/52 |
- |
2 |
12-6019411-C-T |
c.4007G>A |
p.R1336Q |
Missense |
28/52 |
- |
5 |
12-6019412-G-A |
c.4006C>T |
p.R1336* |
Nonsense |
28/52 |
- |
4 |
12-6019415-T-C |
c.4003A>G |
p.K1335E |
Missense |
28/52 |
- |
1 |
12-6019416-CCG-GTC |
c.4000_4002delinsGAC |
p.R1334D |
Missense |
28/52 |
- |
1 |
12-6019417-CG-GC |
c.4000_4001delinsGC |
p.R1334A |
Missense |
28/52 |
- |
2 |
12-6019417-C-T |
c.4001G>A |
p.R1334Q |
Missense |
28/52 |
- |
4 |
12-6019418-G-A |
c.4000C>T |
p.R1334W |
Missense |
28/52 |
- |
3 |
12-6019420-T-G |
c.3998A>C |
p.D1333A |
Missense |
28/52 |
- |
1 |
12-6019421-C-T |
c.3997G>A |
p.D1333N |
Missense |
28/52 |
- |
1 |
12-6019422-C-A |
c.3996G>T |
p.K1332N |
Missense |
28/52 |
- |
2 |
12-6019422-C-G |
c.3996G>C |
p.K1332N |
Missense |
28/52 |
- |
1 |
12-6019423-T-C |
c.3995A>G |
p.K1332R |
Missense |
28/52 |
- |
2 |
12-6019423-TT-GC |
c.3994_3995delinsGC |
p.K1332A |
Missense |
28/52 |
- |
2 |
12-6019427-G-T |
c.3991C>A |
p.L1331I |
Missense |
28/52 |
- |
1 |
12-6019428-CCC-ACA |
c.3988_3990delinsTGT |
p.G1330C |
Missense |
28/52 |
- |
1 |
12-6019429-C-G |
c.3989G>C |
p.G1330A |
Missense |
28/52 |
- |
2 |
12-6019429-C-T |
c.3989G>A |
p.G1330E |
Missense |
28/52 |
- |
1 |
12-6019430-C-G |
c.3988G>C |
p.G1330R |
Missense |
28/52 |
- |
1 |
12-6019430-C-T |
c.3988G>A |
p.G1330R |
Missense |
28/52 |
- |
1 |
12-6019431-G-A |
c.3987C>T |
p.I1329= |
Synonymous |
28/52 |
- |
3 |
12-6019431-G-C |
c.3987C>G |
p.I1329M |
Missense |
28/52 |
- |
1 |
12-6019431-G-T |
c.3987C>A |
p.I1329= |
Synonymous |
28/52 |
- |
2 |
12-6019432-A-G |
c.3986T>C |
p.I1329T |
Missense |
28/52 |
- |
1 |
12-6019433-T-C |
c.3985A>G |
p.I1329V |
Missense |
28/52 |
- |
1 |
12-6019437-G-T |
c.3981C>A |
p.A1327= |
Synonymous |
28/52 |
- |
1 |
12-6019438-G-A |
c.3980C>T |
p.A1327V |
Missense |
28/52 |
- |
1 |
12-6019438-G-C |
c.3980C>G |
p.A1327G |
Missense |
28/52 |
- |
1 |
12-6019439-C-T |
c.3979G>A |
p.A1327T |
Missense |
28/52 |
- |
2 |
12-6019440-G-C |
c.3978C>G |
p.H1326Q |
Missense |
28/52 |
- |
1 |
12-6019440-G-T |
c.3978C>A |
p.H1326Q |
Missense |
28/52 |
- |
1 |
12-6019441-T-C |
c.3977A>G |
p.H1326R |
Missense |
28/52 |
- |
1 |
12-6019441-TG-T |
c.3976del |
p.H1326Tfs*22 |
Frameshift |
28/52 |
- |
1 |
12-6019444-G-A |
c.3974C>T |
p.S1325F |
Missense |
28/52 |
- |
1 |
12-6019447-C-A |
c.3971G>T |
p.G1324V |
Missense |
28/52 |
- |
1 |
12-6019447-C-G |
c.3971G>C |
p.G1324A |
Missense |
28/52 |
- |
5 |
12-6019448-C-T |
c.3970G>A |
p.G1324S |
Missense |
28/52 |
- |
25 |
12-6019449-G-C |
c.3969C>G |
p.D1323E |
Missense |
28/52 |
- |
1 |
12-6019449-G-T |
c.3969C>A |
p.D1323E |
Missense |
28/52 |
- |
1 |
12-6019451-C-T |
c.3967G>A |
p.D1323N |
Missense |
28/52 |
- |
1 |
12-6019453-T-C |
c.3965A>G |
p.H1322R |
Missense |
28/52 |
- |
1 |
12-6019454-G-A |
c.3964C>T |
p.H1322Y |
Missense |
28/52 |
- |
1 |
12-6019456-T-C |
c.3962A>G |
p.Y1321C |
Missense |
28/52 |
- |
3 |
12-6019457-A-C |
c.3961T>G |
p.Y1321D |
Missense |
28/52 |
- |
1 |
12-6019457-A-T |
c.3961T>A |
p.Y1321N |
Missense |
28/52 |
- |
1 |
12-6019458-CTC-ATG |
c.3958_3960delinsCAT |
p.E1320H |
Missense |
28/52 |
- |
1 |
12-6019459-T-C |
c.3959A>G |
p.E1320G |
Missense |
28/52 |
- |
1 |
12-6019460-C-G |
c.3958G>C |
p.E1320Q |
Missense |
28/52 |
- |
1 |
12-6019464-CAC-AAA |
c.3952_3954delinsTTT |
p.V1318F |
Missense |
28/52 |
- |
1 |
12-6019464-CAC-GAT |
c.3952_3954delinsATC |
p.V1318I |
Missense |
28/52 |
- |
1 |
12-6019466-C-A |
c.3952G>T |
p.V1318L |
Missense |
28/52 |
- |
3 |
12-6019466-C-G |
c.3952G>C |
p.V1318L |
Missense |
28/52 |
- |
1 |
12-6019466-C-T |
c.3952G>A |
p.V1318M |
Missense |
28/52 |
- |
6 |
12-6019467-G-A |
c.3951C>T |
p.A1317= |
Synonymous |
28/52 |
- |
3 |
12-6019469-C-T |
c.3949G>A |
p.A1317T |
Missense |
28/52 |
- |
1 |
12-6019470-CAC-GAT |
c.3946_3948delinsATC |
p.V1316I |
Missense |
28/52 |
- |
1 |
12-6019472-C-A |
c.3946G>T |
p.V1316L |
Missense |
28/52 |
- |
1 |
12-6019472-C-G |
c.3946G>C |
p.V1316L |
Missense |
28/52 |
- |
1 |
12-6019472-C-T |
c.3946G>A |
p.V1316M |
Missense |
28/52 |
- |
58 |
12-6019473-G-A |
c.3945C>T |
p.R1315= |
Synonymous |
28/52 |
- |
4 |
12-6019473-G-C |
c.3945C>G |
p.R1315= |
Synonymous |
28/52 |
- |
2 |
12-6019473-G-T |
c.3945C>A |
p.R1315= |
Synonymous |
28/52 |
- |
2 |
12-6019474-C-A |
c.3944G>T |
p.R1315L |
Missense |
28/52 |
- |
4 |
12-6019474-CG-GC |
c.3943_3944delinsGC |
p.R1315A |
Missense |
28/52 |
- |
1 |
12-6019474-C-T |
c.3944G>A |
p.R1315H |
Missense |
28/52 |
- |
3 |
12-6019475-G-A |
c.3943C>T |
p.R1315C |
Missense |
28/52 |
- |
33 |
12-6019477-A-G |
c.3941T>C |
p.V1314A |
Missense |
28/52 |
- |
1 |
12-6019477-A-T |
c.3941T>A |
p.V1314D |
Missense |
28/52 |
- |
4 |
12-6019478-C-A |
c.3940G>T |
p.V1314F |
Missense |
28/52 |
- |
3 |
12-6019478-C-G |
c.3940G>C |
p.V1314L |
Missense |
28/52 |
- |
3 |
12-6019479-C-A |
c.3939G>T |
p.W1313C |
Missense |
28/52 |
- |
5 |
12-6019479-C-G |
c.3939G>C |
p.W1313C |
Missense |
28/52 |
- |
6 |
12-6019479-C-T |
c.3939G>A |
p.W1313* |
Nonsense |
28/52 |
- |
3 |
12-6019480-CA-GG |
c.3937_3938delinsCC |
p.W1313P |
Missense |
28/52 |
- |
1 |
12-6019482-C-T |
c.3936G>A |
p.K1312= |
Synonymous |
28/52 |
- |
1 |
12-6019482-CTT-GTC |
c.3934_3936delinsGAC |
p.K1312D |
Missense |
28/52 |
- |
1 |
12-6019483-TT-GC |
c.3934_3935delinsGC |
p.K1312A |
Missense |
28/52 |
- |
2 |
12-6019484-T-G |
c.3934A>C |
p.K1312Q |
Missense |
28/52 |
- |
1 |
12-6019487-G-A |
c.3931C>T |
p.Q1311* |
Nonsense |
28/52 |
- |
11 |
12-6019487-G-T |
c.3931C>A |
p.Q1311K |
Missense |
28/52 |
- |
2 |
12-6019488-G-A |
c.3930C>T |
p.S1310= |
Synonymous |
28/52 |
- |
1 |
12-6019489-G-A |
c.3929C>T |
p.S1310F |
Missense |
28/52 |
- |
7 |
12-6019489-GA-AG |
c.3928_3929delinsCT |
p.S1310L |
Missense |
28/52 |
- |
1 |
12-6019490-A-G |
c.3928T>C |
p.S1310P |
Missense |
28/52 |
- |
2 |
12-6019492-A-G |
c.3926T>C |
p.I1309T |
Missense |
28/52 |
- |
1 |
12-6019492-A-T |
c.3926T>A |
p.I1309N |
Missense |
28/52 |
- |
1 |
12-6019493-T-A |
c.3925A>T |
p.I1309F |
Missense |
28/52 |
- |
1 |
12-6019493-T-C |
c.3925A>G |
p.I1309V |
Missense |
28/52 |
- |
18 |
12-6019494-G-A |
c.3924C>T |
p.R1308= |
Synonymous |
28/52 |
- |
1 |
12-6019494-G-C |
c.3924C>G |
p.R1308= |
Synonymous |
28/52 |
- |
1 |
12-6019494-G-T |
c.3924C>A |
p.R1308= |
Synonymous |
28/52 |
- |
1 |
12-6019495-C-A |
c.3923G>T |
p.R1308L |
Missense |
28/52 |
- |
11 |
12-6019495-C-G |
c.3923G>C |
p.R1308P |
Missense |
28/52 |
- |
6 |
12-6019495-CG-GC |
c.3922_3923delinsGC |
p.R1308A |
Missense |
28/52 |
- |
1 |
12-6019495-CG-TC |
c.3922_3923delinsGA |
p.R1308D |
Missense |
28/52 |
- |
1 |
12-6019495-C-T |
c.3923G>A |
p.R1308H |
Missense |
28/52 |
- |
9 |
12-6019496-G-A |
c.3922C>T |
p.R1308C |
Missense |
28/52 |
- |
31 |
12-6019496-G-T |
c.3922C>A |
p.R1308S |
Missense |
28/52 |
- |
1 |
12-6019498-A-G |
c.3920T>C |
p.L1307P |
Missense |
28/52 |
- |
2 |
12-6019500-CCG-ACA |
c.3916_3918delinsTGT |
p.R1306C |
Missense |
28/52 |
- |
2 |
12-6019501-C-A |
c.3917G>T |
p.R1306L |
Missense |
28/52 |
- |
3 |
12-6019501-C-G |
c.3917G>C |
p.R1306P |
Missense |
28/52 |
- |
1 |
12-6019501-C-T |
c.3917G>A |
p.R1306Q |
Missense |
28/52 |
- |
25 |
12-6019502-G-A |
c.3916C>T |
p.R1306W |
Missense |
28/52 |
- |
34 |
12-6019502-G-C |
c.3916C>G |
p.R1306G |
Missense |
28/52 |
- |
1 |
12-6019503-C-T |
c.3915G>A |
p.E1305= |
Synonymous |
28/52 |
- |
2 |
12-6019504-T-G |
c.3914A>C |
p.E1305A |
Missense |
28/52 |
- |
1 |
12-6019507-A-C |
c.3911T>G |
p.M1304R |
Missense |
28/52 |
- |
5 |
12-6019507-A-G |
c.3911T>C |
p.M1304T |
Missense |
28/52 |
- |
1 |
12-6019508-T-C |
c.3910A>G |
p.M1304V |
Missense |
28/52 |
- |
2 |
12-6019509-C-T |
c.3909G>A |
p.M1303I |
Missense |
28/52 |
- |
5 |
12-6019511-T-C |
c.3907A>G |
p.M1303V |
Missense |
28/52 |
- |
2 |
12-6019513-T-C |
c.3905A>G |
p.D1302G |
Missense |
28/52 |
- |
2 |
12-6019515-C-A |
c.3903G>T |
p.V1301= |
Synonymous |
28/52 |
- |
1 |
12-6019519-A-C |
c.3899T>G |
p.V1300G |
Missense |
28/52 |
- |
1 |
12-6019519-A-G |
c.3899T>C |
p.V1300A |
Missense |
28/52 |
- |
1 |
12-6019520-C-A |
c.3898G>T |
p.V1300L |
Missense |
28/52 |
- |
1 |
12-6019520-C-G |
c.3898G>C |
p.V1300L |
Missense |
28/52 |
- |
1 |
12-6019525-G-A |
c.3893C>T |
p.A1298V |
Missense |
28/52 |
- |
1 |
12-6019525-GC-CA |
c.3892_3893delinsTG |
p.A1298C |
Missense |
28/52 |
- |
8 |
12-6019526-C-T |
c.3892G>A |
p.A1298T |
Missense |
28/52 |
- |
2 |
12-6019528-TT-GC |
c.3889_3890delinsGC |
p.K1297A |
Missense |
28/52 |
- |
1 |
12-6019531-A-G |
c.3887T>C |
p.L1296P |
Missense |
28/52 |
- |
1 |
12-6019534-A-G |
c.3884T>C |
p.V1295A |
Missense |
28/52 |
- |
1 |
12-6019539-A-G |
c.3879T>C |
p.F1293= |
Synonymous |
28/52 |
- |
2 |
12-6019540-A-C |
c.3878T>G |
p.F1293C |
Missense |
28/52 |
- |
2 |
12-6019539-A-C |
c.3879T>G |
p.F1293L |
Missense |
28/52 |
- |
3 |
12-6019539-A-T |
c.3879T>A |
p.F1293L |
Missense |
28/52 |
- |
3 |
12-6019541-A-G |
c.3877T>C |
p.F1293L |
Missense |
28/52 |
- |
3 |
12-6019542-C-A |
c.3876G>T |
p.E1292D |
Missense |
28/52 |
- |
2 |
12-6019542-C-G |
c.3876G>C |
p.E1292D |
Missense |
28/52 |
- |
2 |
12-6019546-GC-CA |
c.3871_3872delinsTG |
p.A1291C |
Missense |
28/52 |
- |
1 |
12-6019549-T-A |
c.3869A>T |
p.E1290V |
Missense |
28/52 |
- |
1 |
12-6019549-T-G |
c.3869A>C |
p.E1290A |
Missense |
28/52 |
- |
1 |
12-6019550-C-T |
c.3868G>A |
p.E1290K |
Missense |
28/52 |
- |
3 |
12-6019552-G-A |
c.3866C>T |
p.S1289F |
Missense |
28/52 |
- |
1 |
12-6019555-A-C |
c.3863T>G |
p.L1288R |
Missense |
28/52 |
- |
3 |
12-6019556-G-A |
c.3862C>T |
p.L1288= |
Synonymous |
28/52 |
- |
1 |
12-6019556-G-C |
c.3862C>G |
p.L1288V |
Missense |
28/52 |
- |
1 |
12-6019558-CT-GC |
c.3859_3860delinsGC |
p.R1287A |
Missense |
28/52 |
- |
2 |
12-6019559-T-C |
c.3859A>G |
p.R1287G |
Missense |
28/52 |
- |
3 |
12-6019561-GA-AG |
c.3856_3857delinsCT |
p.S1286L |
Missense |
28/52 |
- |
1 |
12-6019564-G-A |
c.3854C>T |
p.S1285F |
Missense |
28/52 |
- |
5 |
12-6019564-G-C |
c.3854C>G |
p.S1285C |
Missense |
28/52 |
- |
1 |
12-6019567-C-T |
c.3851G>A |
p.G1284D |
Missense |
28/52 |
- |
1 |
12-6019570-T-G |
c.3848A>C |
p.D1283A |
Missense |
28/52 |
- |
1 |
12-6019571-C-A |
c.3847G>T |
p.D1283Y |
Missense |
28/52 |
- |
1 |
12-6019571-C-G |
c.3847G>C |
p.D1283H |
Missense |
28/52 |
- |
2 |
12-6019572-C-A |
c.3846G>T |
p.L1282= |
Synonymous |
28/52 |
- |
1 |
12-6019572-C-G |
c.3846G>C |
p.L1282= |
Synonymous |
28/52 |
- |
1 |
12-6019572-C-T |
c.3846G>A |
p.L1282= |
Synonymous |
28/52 |
- |
1 |
12-6019574-G-A |
c.3844C>T |
p.L1282= |
Synonymous |
28/52 |
- |
1 |
12-6019573-A-G |
c.3845T>C |
p.L1282P |
Missense |
28/52 |
- |
1 |
12-6019574-G-C |
c.3844C>G |
p.L1282V |
Missense |
28/52 |
- |
1 |
12-6019576-A-C |
c.3842T>G |
p.L1281R |
Missense |
28/52 |
- |
1 |
12-6019576-A-G |
c.3842T>C |
p.L1281P |
Missense |
28/52 |
- |
1 |
12-6019578-G-A |
c.3840C>T |
p.F1280= |
Synonymous |
28/52 |
- |
5 |
12-6019581-G-A |
c.3837C>T |
p.V1279= |
Synonymous |
28/52 |
- |
1 |
12-6019581-G-C |
c.3837C>G |
p.V1279= |
Synonymous |
28/52 |
- |
1 |
12-6019581-G-T |
c.3837C>A |
p.V1279= |
Synonymous |
28/52 |
- |
1 |
12-6019582-A-G |
c.3836T>C |
p.V1279A |
Missense |
28/52 |
- |
1 |
12-6019583-C-A |
c.3835G>T |
p.V1279F |
Missense |
28/52 |
- |
2 |
12-6019583-C-G |
c.3835G>C |
p.V1279L |
Missense |
28/52 |
- |
1 |
12-6019583-C-T |
c.3835G>A |
p.V1279I |
Missense |
28/52 |
- |
19 |
12-6019584-C-T |
c.3834G>A |
p.L1278= |
Synonymous |
28/52 |
- |
1 |
12-6019585-CAGG-C |
c.3831_3833del |
p.D1277_L1278delinsE |
MultiAAMissense |
28/52 |
- |
2 |
12-6019587-G-C |
c.3831C>G |
p.D1277E |
Missense |
28/52 |
- |
1 |
12-6019587-G-T |
c.3831C>A |
p.D1277E |
Missense |
28/52 |
- |
1 |
12-6019588-T-G |
c.3830A>C |
p.D1277A |
Missense |
28/52 |
- |
1 |
12-6019589-C-A |
c.3829G>T |
p.D1277Y |
Missense |
28/52 |
- |
2 |
12-6019589-C-G |
c.3829G>C |
p.D1277H |
Missense |
28/52 |
- |
2 |
12-6019591-A-C |
c.3827T>G |
p.L1276R |
Missense |
28/52 |
- |
2 |
12-6019591-A-G |
c.3827T>C |
p.L1276P |
Missense |
28/52 |
- |
1 |
12-6019595-G-A |
c.3823C>T |
p.L1275= |
Synonymous |
28/52 |
- |
1 |
12-6019595-G-T |
c.3823C>A |
p.L1275I |
Missense |
28/52 |
- |
2 |
12-6019596-C-T |
c.3822G>A |
p.R1274= |
Synonymous |
28/52 |
- |
1 |
12-6019598-T-C |
c.3820A>G |
p.R1274G |
Missense |
28/52 |
- |
1 |
12-6019599-G-T |
c.3819C>A |
p.S1273R |
Missense |
28/52 |
- |
1 |
12-6019601-T-C |
c.3817A>G |
p.S1273G |
Missense |
28/52 |
- |
2 |
12-6019602-G-C |
c.3816C>G |
p.C1272W |
Missense |
28/52 |
- |
2 |
12-6019602-G-T |
c.3816C>A |
p.C1272* |
Nonsense |
28/52 |
- |
1 |
12-6019603-C-A |
c.3815G>T |
p.C1272F |
Missense |
28/52 |
- |
3 |
12-6019603-CA-TC |
c.3814_3815delinsGA |
p.C1272D |
Missense |
28/52 |
- |
1 |
12-6019603-C-T |
c.3815G>A |
p.C1272Y |
Missense |
28/52 |
- |
2 |
12-6019603-C-G |
c.3815G>C |
p.C1272S |
Missense |
28/52 |
- |
6 |
12-6019604-A-C |
c.3814T>G |
p.C1272G |
Missense |
28/52 |
- |
4 |
12-6019604-A-G |
c.3814T>C |
p.C1272R |
Missense |
28/52 |
- |
13 |
12-6019604-A-T |
c.3814T>A |
p.C1272S |
Missense |
28/52 |
- |
5 |
12-6019604-CA-C |
c.3814del |
p.C1272Afs*25 |
Frameshift |
28/52 |
- |
1 |
12-6019606-T-A |
c.3812A>T |
p.Y1271F |
Missense |
28/52 |
- |
1 |
12-6019606-T-C |
c.3812A>G |
p.Y1271C |
Missense |
28/52 |
- |
2 |
12-6019606-T-G |
c.3812A>C |
p.Y1271S |
Missense |
28/52 |
- |
1 |
12-6019608-G-A |
c.3810C>T |
p.F1270= |
Synonymous |
28/52 |
- |
2 |
12-6019608-G-T |
c.3810C>A |
p.F1270L |
Missense |
28/52 |
- |
1 |
12-6019609-A-G |
c.3809T>C |
p.F1270S |
Missense |
28/52 |
- |
1 |
12-6019611-A-T |
c.3807T>A |
p.D1269E |
Missense |
28/52 |
- |
1 |
12-6019612-T-A |
c.3806A>T |
p.D1269V |
Missense |
28/52 |
- |
1 |
12-6019612-T-TA |
c.3805_3806insT |
p.D1269Vfs*24 |
Frameshift |
28/52 |
- |
1 |
12-6019613-C-A |
c.3805G>T |
p.D1269Y |
Missense |
28/52 |
- |
1 |
12-6019613-C-G |
c.3805G>C |
p.D1269H |
Missense |
28/52 |
- |
1 |
12-6019613-C-T |
c.3805G>A |
p.D1269N |
Missense |
28/52 |
- |
12 |
12-6019614-G-A |
c.3804C>T |
p.H1268= |
Synonymous |
28/52 |
- |
2 |
12-6019616-G-C |
c.3802C>G |
p.H1268D |
Missense |
28/52 |
- |
11 |
12-6019616-G-T |
c.3802C>A |
p.H1268N |
Missense |
28/52 |
- |
2 |
12-6019617-C-A |
c.3801G>T |
p.L1267F |
Missense |
28/52 |
- |
2 |
12-6019617-C-G |
c.3801G>C |
p.L1267F |
Missense |
28/52 |
- |
2 |
12-6019618-A-G |
c.3800T>C |
p.L1267S |
Missense |
28/52 |
- |
1 |
12-6019621-G-A |
c.3797C>T |
p.P1266L |
Missense |
28/52 |
- |
41 |
12-6019621-G-C |
c.3797C>G |
p.P1266R |
Missense |
28/52 |
- |
1 |
12-6019621-GG-TC |
c.3796_3797delinsGA |
p.P1266E |
Missense |
28/52 |
- |
1 |
12-6019621-G-T |
c.3797C>A |
p.P1266Q |
Missense |
28/52 |
- |
22 |
12-6019623-C-T |
c.3795G>A |
p.P1265= |
Synonymous |
28/52 |
- |
2 |
12-6019624-G-A |
c.3794C>T |
p.P1265L |
Missense |
28/52 |
- |
1 |
12-6019625-G-A |
c.3793C>T |
p.P1265S |
Missense |
28/52 |
- |
1 |
12-6019627-T-G |
c.3791A>C |
p.E1264A |
Missense |
28/52 |
- |
1 |
12-6019628-C-G |
c.3790G>C |
p.E1264Q |
Missense |
28/52 |
- |
1 |
12-6019629-C-A |
c.3789G>T |
p.S1263= |
Synonymous |
28/52 |
- |
4 |
12-6019629-C-G |
c.3789G>C |
p.S1263= |
Synonymous |
28/52 |
- |
6 |
12-6019629-C-T |
c.3789G>A |
p.S1263= |
Synonymous |
28/52 |
- |
11 |
12-6019630-G-A |
c.3788C>T |
p.S1263L |
Missense |
28/52 |
- |
7 |
12-6019631-A-C |
c.3787T>G |
p.S1263A |
Missense |
28/52 |
- |
1 |
12-6019631-A-G |
c.3787T>C |
p.S1263P |
Missense |
28/52 |
- |
1 |
12-6019633-A-G |
c.3785T>C |
p.I1262T |
Missense |
28/52 |
- |
2 |
12-6019635-G-C |
c.3783C>G |
p.D1261E |
Missense |
28/52 |
- |
1 |
12-6019635-G-T |
c.3783C>A |
p.D1261E |
Missense |
28/52 |
- |
1 |
12-6019635-GTC-CTT |
c.3781_3783delinsAAG |
p.D1261K |
Missense |
28/52 |
- |
1 |
12-6019635-GTC-TTG |
c.3781_3783delinsCAA |
p.D1261Q |
Missense |
28/52 |
- |
1 |
12-6019637-C-T |
c.3781G>A |
p.D1261N |
Missense |
28/52 |
- |
1 |
12-6019638-C-A |
c.3780G>T |
p.E1260D |
Missense |
28/52 |
- |
1 |
12-6019638-C-G |
c.3780G>C |
p.E1260D |
Missense |
28/52 |
- |
1 |
12-6019640-C-G |
c.3778G>C |
p.E1260Q |
Missense |
28/52 |
- |
1 |
12-6019645-T-C |
c.3773A>G |
p.Y1258C |
Missense |
28/52 |
- |
1 |
12-6019647-C-A |
c.3771G>T |
p.L1257= |
Synonymous |
28/52 |
- |
1 |
12-6019647-C-G |
c.3771G>C |
p.L1257= |
Synonymous |
28/52 |
- |
1 |
12-6019647-C-T |
c.3771G>A |
p.L1257= |
Synonymous |
28/52 |
- |
2 |
12-6019649-G-A |
c.3769C>T |
p.L1257= |
Synonymous |
28/52 |
- |
1 |
12-6019648-A-G |
c.3770T>C |
p.L1257P |
Missense |
28/52 |
- |
1 |
12-6019651-GT-CA |
c.3766_3767delinsTG |
p.T1256C |
Missense |
28/52 |
- |
1 |
12-6019652-T-C |
c.3766A>G |
p.T1256A |
Missense |
28/52 |
- |
4 |
12-6019654-G-A |
c.3764C>T |
p.T1255I |
Missense |
28/52 |
- |
2 |
12-6019655-T-C |
c.3763A>G |
p.T1255A |
Missense |
28/52 |
- |
7 |
12-6019656-G-A |
c.3762C>T |
p.P1254= |
Synonymous |
28/52 |
- |
2 |
12-6019658-G-A |
c.3760C>T |
p.P1254S |
Missense |
28/52 |
- |
1 |
12-6019660-CT-GC |
c.3757_3758delinsGC |
p.S1253A |
Missense |
28/52 |
- |
1 |
12-6019665-C-A |
c.3753G>T |
p.P1251= |
Synonymous |
28/52 |
- |
5 |
12-6019665-C-G |
c.3753G>C |
p.P1251= |
Synonymous |
28/52 |
- |
1 |
12-6019665-C-T |
c.3753G>A |
p.P1251= |
Synonymous |
28/52 |
- |
1 |
12-6019667-G-A |
c.3751C>T |
p.P1251S |
Missense |
28/52 |
- |
1 |
12-6019669-G-A |
c.3749C>T |
p.A1250V |
Missense |
28/52 |
- |
1 |
12-6019669-G-C |
c.3749C>G |
p.A1250G |
Missense |
28/52 |
- |
2 |
12-6019671-A-C |
c.3747T>G |
p.D1249E |
Missense |
28/52 |
- |
1 |
12-6019671-A-T |
c.3747T>A |
p.D1249E |
Missense |
28/52 |
- |
1 |
12-6019676-T-C |
c.3742A>G |
p.T1248A |
Missense |
28/52 |
- |
4 |
12-6019679-G-A |
c.3739C>T |
p.P1247S |
Missense |
28/52 |
- |
5 |
12-6019683-C-A |
c.3735G>T |
p.V1245= |
Synonymous |
28/52 |
- |
4 |
12-6019683-C-G |
c.3735G>C |
p.V1245= |
Synonymous |
28/52 |
- |
3 |
12-6019683-C-T |
c.3735G>A |
p.V1245= |
Synonymous |
28/52 |
- |
6 |
12-6019687-A-G |
c.3731T>C |
p.V1244A |
Missense |
28/52 |
- |
2 |
12-6019687-A-T |
c.3731T>A |
p.V1244E |
Missense |
28/52 |
- |
2 |
12-6019688-C-T |
c.3730G>A |
p.V1244M |
Missense |
28/52 |
- |
1 |
12-6019696-C-G |
c.3722G>C |
p.G1241A |
Missense |
28/52 |
- |
1 |
12-6019697-C-T |
c.3721G>A |
p.G1241R |
Missense |
28/52 |
- |
1 |
12-6019699-G-A |
c.3719C>T |
p.P1240L |
Missense |
28/52 |
- |
2 |
12-6019699-G-T |
c.3719C>A |
p.P1240Q |
Missense |
28/52 |
- |
1 |
12-6019700-G-T |
c.3718C>A |
p.P1240T |
Missense |
28/52 |
- |
1 |
12-6019705-T-C |
c.3713A>G |
p.Q1238R |
Missense |
28/52 |
- |
1 |
12-6019710-G-A |
c.3708C>T |
p.A1236= |
Synonymous |
28/52 |
- |
1 |
12-6019716-A-C |
c.3702T>G |
p.C1234W |
Missense |
28/52 |
- |
5 |
12-6019717-C-A |
c.3701G>T |
p.C1234F |
Missense |
28/52 |
- |
1 |
12-6019717-CA-GT |
c.3700_3701delinsAC |
p.C1234T |
Missense |
28/52 |
- |
1 |
12-6019718-A-AGCTCTT |
c.3699_3700insAAGAGC |
p.T1233_C1234insKS |
InFrameInsertion |
28/52 |
- |
1 |
12-6019719-G-A |
c.3699C>T |
p.T1233= |
Synonymous |
28/52 |
- |
1 |
12-6019719-G-GACT |
c.3698_3699insAGT |
p.T1233_C1234insV |
InFrameInsertion |
28/52 |
- |
1 |
12-6019724-G-C |
c.3694C>G |
p.L1232V |
Missense |
28/52 |
- |
1 |
12-6019726-T-A |
c.3692A>T |
p.N1231I |
Missense |
28/52 |
- |
1 |
12-6019726-T-C |
c.3692A>G |
p.N1231S |
Missense |
28/52 |
- |
4 |
12-6019726-T-G |
c.3692A>C |
p.N1231T |
Missense |
28/52 |
- |
18 |
12-6019730-C-T |
c.3688G>A |
p.V1230I |
Missense |
28/52 |
- |
2 |
12-6019732-A-C |
c.3686T>G |
p.V1229G |
Missense |
28/52 |
- |
13 |
12-6019733-C-T |
c.3685G>A |
p.V1229I |
Missense |
28/52 |
- |
1 |
12-6019735-T-A |
c.3683A>T |
p.D1228V |
Missense |
28/52 |
- |
1 |
12-6019736-C-G |
c.3682G>C |
p.D1228H |
Missense |
28/52 |
- |
1 |
12-6019737-A-C |
c.3681T>G |
p.C1227W |
Missense |
28/52 |
- |
1 |
12-6019739-A-G |
c.3679T>C |
p.C1227R |
Missense |
28/52 |
- |
2 |
12-6019744-C-T |
c.3675-1G>A |
- |
IntronicSNV |
- |
27/51 |
1 |
12-6019818-T-C |
c.3675-75A>G |
- |
IntronicSNV |
- |
27/51 |
11 |
12-6021901-A-C |
c.3673T>G |
p.C1225G |
Missense |
27/52 |
- |
6 |
12-6021904-T-G |
c.3670A>C |
p.I1224L |
Missense |
27/52 |
- |
1 |
12-6021905-C-T |
c.3669G>A |
p.Q1223= |
Synonymous |
27/52 |
- |
1 |
12-6021908-G-T |
c.3666C>A |
p.C1222* |
Nonsense |
27/52 |
- |
1 |
12-6021911-G-C |
c.3663C>G |
p.H1221Q |
Missense |
27/52 |
- |
1 |
12-6021911-G-T |
c.3663C>A |
p.H1221Q |
Missense |
27/52 |
- |
1 |
12-6021912-T-A |
c.3662A>T |
p.H1221L |
Missense |
27/52 |
- |
1 |
12-6021912-TG-GC |
c.3661_3662delinsGC |
p.H1221A |
Missense |
27/52 |
- |
1 |
12-6021918-G-T |
c.3656C>A |
p.P1219H |
Missense |
27/52 |
- |
1 |
12-6021923-A-G |
c.3651T>C |
p.S1217= |
Synonymous |
27/52 |
- |
1 |
12-6021926-G-A |
c.3648C>T |
p.P1216= |
Synonymous |
27/52 |
- |
2 |
12-6021926-G-C |
c.3648C>G |
p.P1216= |
Synonymous |
27/52 |
- |
1 |
12-6021926-G-T |
c.3648C>A |
p.P1216= |
Synonymous |
27/52 |
- |
1 |
12-6021927-G-A |
c.3647C>T |
p.P1216L |
Missense |
27/52 |
- |
1 |
12-6021928-G-A |
c.3646C>T |
p.P1216S |
Missense |
27/52 |
- |
1 |
12-6021932-C-T |
c.3642G>A |
p.L1214= |
Synonymous |
27/52 |
- |
1 |
12-6021937-T-C |
c.3637A>G |
p.T1213A |
Missense |
27/52 |
- |
1 |
12-6021938-G-A |
c.3636C>T |
p.V1212= |
Synonymous |
27/52 |
- |
2 |
12-6021950-T-A |
c.3624A>T |
p.S1208= |
Synonymous |
27/52 |
- |
1 |
12-6021950-T-C |
c.3624A>G |
p.S1208= |
Synonymous |
27/52 |
- |
1 |
12-6021950-T-G |
c.3624A>C |
p.S1208= |
Synonymous |
27/52 |
- |
1 |
12-6021957-A-G |
c.3617T>C |
p.F1206S |
Missense |
27/52 |
- |
5 |
12-6021959-ACG-TCA |
c.3613_3615delinsTGA |
p.R1205* |
Nonsense |
27/52 |
- |
1 |
12-6021960-C-A |
c.3614G>T |
p.R1205L |
Missense |
27/52 |
- |
1 |
12-6021960-C-T |
c.3614G>A |
p.R1205H |
Missense |
27/52 |
- |
64 |
12-6021961-G-A |
c.3613C>T |
p.R1205C |
Missense |
27/52 |
- |
3 |
12-6021961-G-T |
c.3613C>A |
p.R1205S |
Missense |
27/52 |
- |
1 |
12-6021963-C-A |
c.3611G>T |
p.R1204L |
Missense |
27/52 |
- |
4 |
12-6021965-G-A |
c.3609C>T |
p.G1203= |
Synonymous |
27/52 |
- |
3 |
12-6021965-G-C |
c.3609C>G |
p.G1203= |
Synonymous |
27/52 |
- |
1 |
12-6021965-G-T |
c.3609C>A |
p.G1203= |
Synonymous |
27/52 |
- |
1 |
12-6021978-C-T |
c.3596G>A |
p.C1199Y |
Missense |
27/52 |
- |
3 |
12-6021979-A-C |
c.3595T>G |
p.C1199G |
Missense |
27/52 |
- |
1 |
12-6021980-C-T |
c.3594G>A |
p.V1198= |
Synonymous |
27/52 |
- |
1 |
12-6021981-A-G |
c.3593T>C |
p.V1198A |
Missense |
27/52 |
- |
1 |
12-6021984-G-T |
c.3590C>A |
p.P1197Q |
Missense |
27/52 |
- |
3 |
12-6021987-CA-GT |
c.3586_3587delinsAC |
p.C1196T |
Missense |
27/52 |
- |
1 |
12-6021987-C-T |
c.3587G>A |
p.C1196Y |
Missense |
27/52 |
- |
2 |
12-6021989-G-A |
c.3585C>T |
p.D1195= |
Synonymous |
27/52 |
- |
1 |
12-6021991-C-A |
c.3583G>T |
p.D1195Y |
Missense |
27/52 |
- |
1 |
12-6021991-C-T |
c.3583G>A |
p.D1195N |
Missense |
27/52 |
- |
1 |
12-6021994-C-T |
c.3580G>A |
p.E1194K |
Missense |
27/52 |
- |
3 |
12-6021995-A-G |
c.3579T>C |
p.P1193= |
Synonymous |
27/52 |
- |
1 |
12-6021998-G-C |
c.3576C>G |
p.D1192E |
Missense |
27/52 |
- |
1 |
12-6021998-G-T |
c.3576C>A |
p.D1192E |
Missense |
27/52 |
- |
1 |
12-6022000-C-G |
c.3574G>C |
p.D1192H |
Missense |
27/52 |
- |
1 |
12-6022003-C-T |
c.3571G>A |
p.V1191I |
Missense |
27/52 |
- |
1 |
12-6022005-C-A |
c.3569G>T |
p.C1190F |
Missense |
27/52 |
- |
2 |
12-6022005-CA-GT |
c.3568_3569delinsAC |
p.C1190T |
Missense |
27/52 |
- |
2 |
12-6022005-C-T |
c.3569G>A |
p.C1190Y |
Missense |
27/52 |
- |
7 |
12-6022005-C-G |
c.3569G>C |
p.C1190S |
Missense |
27/52 |
- |
1 |
12-6022006-A-G |
c.3568T>C |
p.C1190R |
Missense |
27/52 |
- |
7 |
12-6022006-A-T |
c.3568T>A |
p.C1190S |
Missense |
27/52 |
- |
1 |
12-6022009-T-C |
c.3565A>G |
p.T1189A |
Missense |
27/52 |
- |
1 |
12-6022024-C-T |
c.3550G>A |
p.D1184N |
Missense |
27/52 |
- |
1 |
12-6022028-G-A |
c.3546C>T |
p.I1182= |
Synonymous |
27/52 |
- |
1 |
12-6022028-G-T |
c.3546C>A |
p.I1182= |
Synonymous |
27/52 |
- |
1 |
12-6022033-T-TA |
c.3540_3541insT |
p.K1181* |
SpliceAcceptorInsertion |
27/52 |
- |
1 |
12-6022033-T-TG |
c.3540_3541insC |
p.K1181Qfs*5 |
SpliceAcceptorInsertion |
27/52 |
- |
1 |
12-6022034-C-T |
c.3540G>A |
p.G1180= |
Synonymous |
27/52 |
- |
1 |
12-6022035-C-G |
c.3539G>C |
p.G1180A |
Missense |
27/52 |
- |
1 |
12-6022084-G-A |
c.3539-49C>T |
- |
IntronicSNV |
- |
26/51 |
2 |
12-6022084-G-C |
c.3539-49C>G |
- |
IntronicSNV |
- |
26/51 |
2 |
12-6022720-C-T |
c.3538+20G>A |
- |
IntronicSNV |
- |
26/51 |
1 |
12-6022734-C-A |
c.3538+6G>T |
- |
IntronicSNV |
- |
26/51 |
1 |
12-6022739-C-T |
c.3538+1G>A |
- |
IntronicSNV |
- |
26/51 |
2 |
12-6022740-C-G |
c.3538G>C |
p.G1180R |
Missense |
26/52 |
- |
3 |
12-6022740-C-T |
c.3538G>A |
p.G1180R |
Missense |
26/52 |
- |
6 |
12-6022741-T-A |
c.3537A>T |
p.P1179= |
Synonymous |
26/52 |
- |
1 |
12-6022741-T-C |
c.3537A>G |
p.P1179= |
Synonymous |
26/52 |
- |
1 |
12-6022741-T-G |
c.3537A>C |
p.P1179= |
Synonymous |
26/52 |
- |
1 |
12-6022741-TGGAGGGCAGTGGGCATGGCAGCCCTCCACACACTGCACAGGGCAGGCCAGTGGCTCAGG-T |
c.3478_3536del |
p.P1160Rfs*6 |
Unclassified |
26/52 |
- |
1 |
12-6022745-G-C |
c.3533C>G |
p.P1178R |
Missense |
26/52 |
- |
1 |
12-6022745-G-T |
c.3533C>A |
p.P1178H |
Missense |
26/52 |
- |
1 |
12-6022751-T-A |
c.3527A>T |
p.H1176L |
Missense |
26/52 |
- |
1 |
12-6022757-TG-GC |
c.3520_3521delinsGC |
p.H1174A |
Missense |
26/52 |
- |
1 |
12-6022760-C-A |
c.3518G>T |
p.C1173F |
Missense |
26/52 |
- |
1 |
12-6022760-C-G |
c.3518G>C |
p.C1173S |
Missense |
26/52 |
- |
1 |
12-6022761-A-T |
c.3517T>A |
p.C1173S |
Missense |
26/52 |
- |
1 |
12-6022762-G-A |
c.3516C>T |
p.G1172= |
Synonymous |
26/52 |
- |
1 |
12-6022762-G-C |
c.3516C>G |
p.G1172= |
Synonymous |
26/52 |
- |
1 |
12-6022762-G-T |
c.3516C>A |
p.G1172= |
Synonymous |
26/52 |
- |
1 |
12-6022763-C-A |
c.3515G>T |
p.G1172V |
Missense |
26/52 |
- |
4 |
12-6022767-C-G |
c.3511G>C |
p.E1171Q |
Missense |
26/52 |
- |
1 |
12-6022771-A-C |
c.3507T>G |
p.C1169W |
Missense |
26/52 |
- |
1 |
12-6022783-G-A |
c.3495C>T |
p.C1165= |
Synonymous |
26/52 |
- |
1 |
12-6022783-G-C |
c.3495C>G |
p.C1165W |
Missense |
26/52 |
- |
1 |
12-6022784-C-A |
c.3494G>T |
p.C1165F |
Missense |
26/52 |
- |
1 |
12-6022784-C-G |
c.3494G>C |
p.C1165S |
Missense |
26/52 |
- |
1 |
12-6022789-CAG-GAT |
c.3487_3489delinsATC |
p.L1163I |
Missense |
26/52 |
- |
1 |
12-6022792-T-A |
c.3486A>T |
p.P1162= |
Synonymous |
26/52 |
- |
2 |
12-6022792-T-C |
c.3486A>G |
p.P1162= |
Synonymous |
26/52 |
- |
5 |
12-6022792-T-G |
c.3486A>C |
p.P1162= |
Synonymous |
26/52 |
- |
2 |
12-6022793-G-A |
c.3485C>T |
p.P1162L |
Missense |
26/52 |
- |
6 |
12-6022794-G-T |
c.3484C>A |
p.P1162T |
Missense |
26/52 |
- |
1 |
12-6022795-C-G |
c.3483G>C |
p.E1161D |
Missense |
26/52 |
- |
1 |
12-6022797-C-G |
c.3481G>C |
p.E1161Q |
Missense |
26/52 |
- |
1 |
12-6022798-A-T |
c.3480T>A |
p.P1160= |
Synonymous |
26/52 |
- |
1 |
12-6022798-CAGG-C |
c.3478_3480del |
p.P1160del |
InFrameDeletion |
26/52 |
- |
1 |
12-6022798-AG-A |
c.3479del |
p.P1160Lfs*55 |
Frameshift |
26/52 |
- |
1 |
12-6022802-TG-GC |
c.3475_3476delinsGC |
p.H1159A |
Missense |
26/52 |
- |
1 |
12-6022807-A-G |
c.3471T>C |
p.C1157= |
Synonymous |
26/52 |
- |
2 |
12-6022808-C-A |
c.3470G>T |
p.C1157F |
Missense |
26/52 |
- |
8 |
12-6022808-CA-GT |
c.3469_3470delinsAC |
p.C1157T |
Missense |
26/52 |
- |
1 |
12-6022811-G-A |
c.3467C>T |
p.T1156M |
Missense |
26/52 |
- |
9 |
12-6022813-G-A |
c.3465C>T |
p.V1155= |
Synonymous |
26/52 |
- |
2 |
12-6022813-G-C |
c.3465C>G |
p.V1155= |
Synonymous |
26/52 |
- |
2 |
12-6022813-G-T |
c.3465C>A |
p.V1155= |
Synonymous |
26/52 |
- |
2 |
12-6022818-G-A |
c.3460C>T |
p.Q1154* |
Nonsense |
26/52 |
- |
1 |
12-6022820-C-T |
c.3458G>A |
p.C1153Y |
Missense |
26/52 |
- |
1 |
12-6022824-C-T |
c.3454G>A |
p.A1152T |
Missense |
26/52 |
- |
1 |
12-6022829-G-C |
c.3449C>G |
p.A1150G |
Missense |
26/52 |
- |
1 |
12-6022830-C-T |
c.3448G>A |
p.A1150T |
Missense |
26/52 |
- |
1 |
12-6022833-A-G |
c.3445T>C |
p.C1149R |
Missense |
26/52 |
- |
24 |
12-6022840-A-C |
c.3438T>G |
p.Y1146* |
Nonsense |
26/52 |
- |
3 |
12-6022840-A-G |
c.3438T>C |
p.Y1146= |
Synonymous |
26/52 |
- |
2 |
12-6022840-A-T |
c.3438T>A |
p.Y1146* |
Nonsense |
26/52 |
- |
2 |
12-6022841-T-C |
c.3437A>G |
p.Y1146C |
Missense |
26/52 |
- |
12 |
12-6022843-G-A |
c.3435C>T |
p.R1145= |
Synonymous |
26/52 |
- |
1 |
12-6022843-G-C |
c.3435C>G |
p.R1145= |
Synonymous |
26/52 |
- |
2 |
12-6022843-G-T |
c.3435C>A |
p.R1145= |
Synonymous |
26/52 |
- |
2 |
12-6022844-C-T |
c.3434G>A |
p.R1145H |
Missense |
26/52 |
- |
4 |
12-6022845-G-A |
c.3433C>T |
p.R1145C |
Missense |
26/52 |
- |
1 |
12-6022848-A-C |
c.3430T>G |
p.W1144G |
Missense |
26/52 |
- |
13 |
12-6022848-A-G |
c.3430T>C |
p.W1144R |
Missense |
26/52 |
- |
1 |
12-6022850-TC-AT |
c.3427_3428delinsAT |
p.E1143M |
Missense |
26/52 |
- |
1 |
12-6022852-A-G |
c.3426T>C |
p.C1142= |
Synonymous |
26/52 |
- |
5 |
12-6022853-C-A |
c.3425G>T |
p.C1142F |
Missense |
26/52 |
- |
1 |
12-6022853-CA-GC |
c.3424_3425delinsGC |
p.C1142A |
Missense |
26/52 |
- |
5 |
12-6022864-G-A |
c.3414C>T |
p.N1138= |
Synonymous |
26/52 |
- |
6 |
12-6022866-T-TA |
c.3411_3412insT |
p.N1138* |
Nonsense |
26/52 |
- |
1 |
12-6022871-CG-AT |
c.3406_3407delinsAT |
p.R1136M |
Missense |
26/52 |
- |
1 |
12-6022871-C-T |
c.3407G>A |
p.R1136Q |
Missense |
26/52 |
- |
1 |
12-6022872-G-T |
c.3406C>A |
p.R1136= |
Synonymous |
26/52 |
- |
1 |
12-6022888-G-A |
c.3390C>T |
p.C1130= |
Synonymous |
26/52 |
- |
6 |
12-6022889-C-A |
c.3389G>T |
p.C1130F |
Missense |
26/52 |
- |
20 |
12-6022889-CA-GT |
c.3388_3389delinsAC |
p.C1130T |
Missense |
26/52 |
- |
1 |
12-6022889-C-T |
c.3389G>A |
p.C1130Y |
Missense |
26/52 |
- |
4 |
12-6022890-A-C |
c.3388T>G |
p.C1130G |
Missense |
26/52 |
- |
8 |
12-6022890-A-G |
c.3388T>C |
p.C1130R |
Missense |
26/52 |
- |
4 |
12-6022891-GCT-G |
c.3385_3386del |
p.S1129Lfs*12 |
Frameshift |
26/52 |
- |
1 |
12-6022932-C-A |
c.3380-34G>T |
- |
IntronicSNV |
- |
25/51 |
2 |
12-6022932-C-T |
c.3380-34G>A |
- |
IntronicSNV |
- |
25/51 |
2 |
12-6022977-G-A |
c.3380-79C>T |
- |
IntronicSNV |
- |
25/51 |
1 |
12-6023505-C-T |
c.3379+126G>A |
- |
IntronicSNV |
- |
25/51 |
1 |
12-6023604-T-A |
c.3379+27A>T |
- |
IntronicSNV |
- |
25/51 |
1 |
12-6023624-T-G |
c.3379+7A>C |
- |
IntronicSNV |
- |
25/51 |
3 |
12-6023630-C-T |
c.3379+1G>A |
- |
IntronicSNV |
- |
25/51 |
10 |
12-6023631-G-A |
c.3379C>T |
p.P1127S |
Missense |
25/52 |
- |
7 |
12-6023631-G-T |
c.3379C>A |
p.P1127T |
Missense |
25/52 |
- |
1 |
12-6023633-C-T |
c.3377G>A |
p.C1126Y |
Missense |
25/52 |
- |
2 |
12-6023636-A-T |
c.3374T>A |
p.L1125* |
Nonsense |
25/52 |
- |
1 |
12-6023638-TG-GT |
c.3371_3372delinsAC |
p.T1124N |
Missense |
25/52 |
- |
1 |
12-6023642-G-C |
c.3368C>G |
p.A1123G |
Missense |
25/52 |
- |
1 |
12-6023642-GC-CA |
c.3367_3368delinsTG |
p.A1123C |
Missense |
25/52 |
- |
1 |
12-6023643-C-T |
c.3367G>A |
p.A1123T |
Missense |
25/52 |
- |
2 |
12-6023645-G-A |
c.3365C>T |
p.T1122M |
Missense |
25/52 |
- |
10 |
12-6023647-C-A |
c.3363G>T |
p.R1121S |
Missense |
25/52 |
- |
1 |
12-6023647-C-T |
c.3363G>A |
p.R1121= |
Synonymous |
25/52 |
- |
2 |
12-6023649-T-G |
c.3361A>C |
p.R1121= |
Synonymous |
25/52 |
- |
1 |
12-6023651-C-CG |
c.3358_3359insC |
p.W1120Sfs*22 |
Frameshift |
25/52 |
- |
1 |
12-6023651-C-G |
c.3359G>C |
p.W1120S |
Missense |
25/52 |
- |
2 |
12-6023654-G-A |
c.3356C>T |
p.T1119I |
Missense |
25/52 |
- |
1 |
12-6023660-A-C |
c.3350T>G |
p.V1117G |
Missense |
25/52 |
- |
1 |
12-6023660-A-T |
c.3350T>A |
p.V1117E |
Missense |
25/52 |
- |
1 |
12-6023662-C-A |
c.3348G>T |
p.K1116N |
Missense |
25/52 |
- |
1 |
12-6023662-C-G |
c.3348G>C |
p.K1116N |
Missense |
25/52 |
- |
1 |
12-6023666-CC-GT |
c.3343_3344delinsAC |
p.G1115T |
Missense |
25/52 |
- |
1 |
12-6023667-C-A |
c.3343G>T |
p.G1115C |
Missense |
25/52 |
- |
1 |
12-6023670-G-A |
c.3340C>T |
p.H1114Y |
Missense |
25/52 |
- |
1 |
12-6023674-G-T |
c.3336C>A |
p.A1112= |
Synonymous |
25/52 |
- |
2 |
12-6023676-C-A |
c.3334G>T |
p.A1112S |
Missense |
25/52 |
- |
1 |
12-6023682-C-T |
c.3328G>A |
p.V1110M |
Missense |
25/52 |
- |
2 |
12-6023687-G-A |
c.3323C>T |
p.A1108V |
Missense |
25/52 |
- |
1 |
12-6023687-G-T |
c.3323C>A |
p.A1108D |
Missense |
25/52 |
- |
1 |
12-6023690-T-C |
c.3320A>G |
p.Y1107C |
Missense |
25/52 |
- |
1 |
12-6023691-A-G |
c.3319T>C |
p.Y1107H |
Missense |
25/52 |
- |
1 |
12-6023696-G-T |
c.3314C>A |
p.A1105D |
Missense |
25/52 |
- |
1 |
12-6023697-C-T |
c.3313G>A |
p.A1105T |
Missense |
25/52 |
- |
1 |
12-6023699-A-G |
c.3311T>C |
p.I1104T |
Missense |
25/52 |
- |
1 |
12-6023701-G-A |
c.3309C>T |
p.T1103= |
Synonymous |
25/52 |
- |
1 |
12-6023701-G-C |
c.3309C>G |
p.T1103= |
Synonymous |
25/52 |
- |
1 |
12-6023701-G-T |
c.3309C>A |
p.T1103= |
Synonymous |
25/52 |
- |
1 |
12-6023703-TGTCGCAGAAGCAGGCGCAGTCC-GGA |
c.3285_3307delinsTCC |
p.D1096Pfs*39 |
Frameshift |
25/52 |
- |
1 |
12-6023706-C-T |
c.3304G>A |
p.D1102N |
Missense |
25/52 |
- |
7 |
12-6023707-G-T |
c.3303C>A |
p.C1101* |
Nonsense |
25/52 |
- |
2 |
12-6023709-A-G |
c.3301T>C |
p.C1101R |
Missense |
25/52 |
- |
2 |
12-6023710-G-A |
c.3300C>T |
p.F1100= |
Synonymous |
25/52 |
- |
4 |
12-6023713-G-C |
c.3297C>G |
p.C1099W |
Missense |
25/52 |
- |
1 |
12-6023714-C-A |
c.3296G>T |
p.C1099F |
Missense |
25/52 |
- |
1 |
12-6023714-CA-GC |
c.3295_3296delinsGC |
p.C1099A |
Missense |
25/52 |
- |
7 |
12-6023714-CA-GG |
c.3295_3296delinsCC |
p.C1099P |
Missense |
25/52 |
- |
1 |
12-6023714-C-T |
c.3296G>A |
p.C1099Y |
Missense |
25/52 |
- |
6 |
12-6023718-C-T |
c.3292G>A |
p.A1098T |
Missense |
25/52 |
- |
3 |
12-6023719-G-A |
c.3291C>T |
p.C1097= |
Synonymous |
25/52 |
- |
1 |
12-6023719-G-C |
c.3291C>G |
p.C1097W |
Missense |
25/52 |
- |
1 |
12-6023720-CA-GC |
c.3289_3290delinsGC |
p.C1097A |
Missense |
25/52 |
- |
1 |
12-6023722-G-A |
c.3288C>T |
p.D1096= |
Synonymous |
25/52 |
- |
1 |
12-6023724-C-G |
c.3286G>C |
p.D1096H |
Missense |
25/52 |
- |
1 |
12-6023725-C-T |
c.3285G>A |
p.G1095= |
Synonymous |
25/52 |
- |
2 |
12-6023728-AAT-CCA |
c.3280_3282delinsTGG |
p.I1094W |
Missense |
25/52 |
- |
1 |
12-6023729-A-G |
c.3281T>C |
p.I1094T |
Missense |
25/52 |
- |
4 |
12-6023735-TC-AT |
c.3274_3275delinsAT |
p.E1092M |
Missense |
25/52 |
- |
1 |
12-6023736-C-T |
c.3274G>A |
p.E1092K |
Missense |
25/52 |
- |
1 |
12-6023738-CA-GT |
c.3271_3272delinsAC |
p.C1091T |
Missense |
25/52 |
- |
1 |
12-6023740-G-T |
c.3270C>A |
p.S1090= |
Synonymous |
25/52 |
- |
1 |
12-6023747-GT-CC |
c.3262_3263delinsGG |
p.T1088G |
Missense |
25/52 |
- |
1 |
12-6023748-T-C |
c.3262A>G |
p.T1088A |
Missense |
25/52 |
- |
1 |
12-6023751-C-T |
c.3259G>A |
p.D1087N |
Missense |
25/52 |
- |
2 |
12-6023752-G-A |
c.3258C>T |
p.Y1086= |
Synonymous |
25/52 |
- |
2 |
12-6023758-G-C |
c.3252C>G |
p.C1084W |
Missense |
25/52 |
- |
1 |
12-6023759-C-T |
c.3251G>A |
p.C1084Y |
Missense |
25/52 |
- |
2 |
12-6023770-A-G |
c.3240T>C |
p.Y1080= |
Synonymous |
25/52 |
- |
3 |
12-6023772-A-AAAG |
c.3237_3238insCTT |
p.P1079_Y1080insL |
InFrameInsertion |
25/52 |
- |
1 |
12-6023772-A-AAGGCTCAGGGTCTACTTGAAG |
c.3237_3238insCTTCAAGTAGACCCTGAGCCT |
p.P1079_Y1080insLQVDPEP |
InFrameInsertion |
25/52 |
- |
2 |
12-6023775-G-A |
c.3235C>T |
p.P1079S |
Missense |
25/52 |
- |
1 |
12-6023776-C-A |
c.3234G>T |
p.E1078D |
Missense |
25/52 |
- |
1 |
12-6023776-C-G |
c.3234G>C |
p.E1078D |
Missense |
25/52 |
- |
1 |
12-6023778-C-T |
c.3232G>A |
p.E1078K |
Missense |
25/52 |
- |
3 |
12-6023779-G-A |
c.3231C>T |
p.P1077= |
Synonymous |
25/52 |
- |
1 |
12-6023779-G-C |
c.3231C>G |
p.P1077= |
Synonymous |
25/52 |
- |
3 |
12-6023779-G-T |
c.3231C>A |
p.P1077= |
Synonymous |
25/52 |
- |
1 |
12-6023782-G-C |
c.3228C>G |
p.D1076E |
Missense |
25/52 |
- |
1 |
12-6023784-C-T |
c.3226G>A |
p.D1076N |
Missense |
25/52 |
- |
1 |
12-6023786-A-G |
c.3224T>C |
p.V1075A |
Missense |
25/52 |
- |
1 |
12-6023913-T-C |
c.3223-126A>G |
- |
IntronicSNV |
- |
24/51 |
2 |
12-6025065-C-A |
c.3222+515G>T |
- |
IntronicSNV |
- |
24/51 |
2 |
12-6025065-C-G |
c.3222+515G>C |
- |
IntronicSNV |
- |
24/51 |
2 |
12-6025065-C-T |
c.3222+515G>A |
- |
IntronicSNV |
- |
24/51 |
2 |
12-6025325-C-T |
c.3222+255G>A |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025343-G-A |
c.3222+237C>T |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025344-G-A |
c.3222+236C>T |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025344-G-C |
c.3222+236C>G |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025459-C-G |
c.3222+121G>C |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025459-C-T |
c.3222+121G>A |
- |
IntronicSNV |
- |
24/51 |
1 |
12-6025549-G-A |
c.3222+31C>T |
- |
IntronicSNV |
- |
24/51 |
4 |
12-6025594-C-T |
c.3208G>A |
p.D1070N |
Missense |
24/52 |
- |
1 |
12-6025597-G-A |
c.3205C>T |
p.Q1069* |
Nonsense |
24/52 |
- |
2 |
12-6025598-G-T |
c.3204C>A |
p.F1068L |
Missense |
24/52 |
- |
1 |
12-6025601-G-A |
c.3201C>T |
p.V1067= |
Synonymous |
24/52 |
- |
1 |
12-6025601-G-C |
c.3201C>G |
p.V1067= |
Synonymous |
24/52 |
- |
1 |
12-6025601-G-T |
c.3201C>A |
p.V1067= |
Synonymous |
24/52 |
- |
1 |
12-6025603-C-T |
c.3199G>A |
p.V1067I |
Missense |
24/52 |
- |
5 |
12-6025607-A-C |
c.3195T>G |
p.S1065R |
Missense |
24/52 |
- |
2 |
12-6025607-A-T |
c.3195T>A |
p.S1065R |
Missense |
24/52 |
- |
2 |
12-6025609-T-G |
c.3193A>C |
p.S1065R |
Missense |
24/52 |
- |
2 |
12-6025610-G-A |
c.3192C>T |
p.T1064= |
Synonymous |
24/52 |
- |
1 |
12-6025611-G-A |
c.3191C>T |
p.T1064I |
Missense |
24/52 |
- |
1 |
12-6025611-G-T |
c.3191C>A |
p.T1064N |
Missense |
24/52 |
- |
1 |
12-6025616-G-A |
c.3186C>T |
p.I1062= |
Synonymous |
24/52 |
- |
1 |
12-6025619-TCT-CCA |
c.3181_3183delinsTGG |
p.R1061W |
Missense |
24/52 |
- |
1 |
12-6025620-C-A |
c.3182G>T |
p.R1061I |
Missense |
24/52 |
- |
1 |
12-6025620-CT-TG |
c.3181_3182delinsCA |
p.R1061Q |
Missense |
24/52 |
- |
1 |
12-6025623-AC-A |
c.3179del |
p.C1060Lfs*59 |
Frameshift |
24/52 |
- |
1 |
12-6025623-CA-GC |
c.3178_3179delinsGC |
p.C1060A |
Missense |
24/52 |
- |
1 |
12-6025623-CA-GT |
c.3178_3179delinsAC |
p.C1060T |
Missense |
24/52 |
- |
1 |
12-6025623-C-T |
c.3179G>A |
p.C1060Y |
Missense |
24/52 |
- |
4 |
12-6025623-C-G |
c.3179G>C |
p.C1060S |
Missense |
24/52 |
- |
1 |
12-6025624-A-G |
c.3178T>C |
p.C1060R |
Missense |
24/52 |
- |
13 |
12-6025624-A-T |
c.3178T>A |
p.C1060S |
Missense |
24/52 |
- |
1 |
12-6025632-T-A |
c.3170A>T |
p.D1057V |
Missense |
24/52 |
- |
1 |
12-6025636-C-A |
c.3166G>T |
p.V1056L |
Missense |
24/52 |
- |
1 |
12-6025636-C-G |
c.3166G>C |
p.V1056L |
Missense |
24/52 |
- |
1 |
12-6025640-C-A |
c.3162G>T |
p.T1054= |
Synonymous |
24/52 |
- |
3 |
12-6025640-C-G |
c.3162G>C |
p.T1054= |
Synonymous |
24/52 |
- |
2 |
12-6025640-C-T |
c.3162G>A |
p.T1054= |
Synonymous |
24/52 |
- |
2 |
12-6025641-G-A |
c.3161C>T |
p.T1054M |
Missense |
24/52 |
- |
1 |
12-6025642-T-C |
c.3160A>G |
p.T1054A |
Missense |
24/52 |
- |
1 |
12-6025643-C-A |
c.3159G>T |
p.Q1053H |
Missense |
24/52 |
- |
6 |
12-6025643-C-G |
c.3159G>C |
p.Q1053H |
Missense |
24/52 |
- |
6 |
12-6025644-T-TG |
c.3157dup |
p.Q1053Pfs*9 |
Frameshift |
24/52 |
- |
1 |
12-6025646-C-T |
c.3156G>A |
p.K1052= |
Synonymous |
24/52 |
- |
1 |
12-6025652-G-T |
c.3150C>A |
p.I1050= |
Synonymous |
24/52 |
- |
1 |
12-6025658-G-A |
c.3144C>T |
p.N1048= |
Synonymous |
24/52 |
- |
2 |
12-6025662-T-C |
c.3140A>G |
p.H1047R |
Missense |
24/52 |
- |
1 |
12-6025663-G-A |
c.3139C>T |
p.H1047Y |
Missense |
24/52 |
- |
1 |
12-6025666-A-C |
c.3136T>G |
p.C1046G |
Missense |
24/52 |
- |
1 |
12-6025675-G-A |
c.3127C>T |
p.P1043S |
Missense |
24/52 |
- |
1 |
12-6025677-G-A |
c.3125C>T |
p.S1042F |
Missense |
24/52 |
- |
3 |
12-6025678-A-G |
c.3124T>C |
p.S1042P |
Missense |
24/52 |
- |
2 |
12-6025680-G-A |
c.3122C>T |
p.S1041L |
Missense |
24/52 |
- |
1 |
12-6025684-C-T |
c.3118G>A |
p.D1040N |
Missense |
24/52 |
- |
1 |
12-6025783-C-A |
c.3109-90G>T |
- |
IntronicSNV |
- |
23/51 |
2 |
12-6025783-C-G |
c.3109-90G>C |
- |
IntronicSNV |
- |
23/51 |
2 |
12-6025799-G-A |
c.3109-106C>T |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025821-C-A |
c.3108+85G>T |
- |
IntronicSNV |
- |
23/51 |
2 |
12-6025821-C-T |
c.3108+85G>A |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025895-C-G |
c.3108+11G>C |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025896-C-A |
c.3108+10G>T |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025897-C-A |
c.3108+9G>T |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025901-C-T |
c.3108+5G>A |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025902-G-A |
c.3108+4C>T |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025905-C-A |
c.3108+1G>T |
- |
IntronicSNV |
- |
23/51 |
1 |
12-6025906-CTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGT-C |
c.3050_3108del |
p.D1017Gfs*12 |
InFrameDeletion |
23/52 |
- |
1 |
12-6025912-G-A |
c.3102C>T |
p.T1034= |
Synonymous |
23/52 |
- |
2 |
12-6025912-G-C |
c.3102C>G |
p.T1034= |
Synonymous |
23/52 |
- |
1 |
12-6025912-G-T |
c.3102C>A |
p.T1034= |
Synonymous |
23/52 |
- |
1 |
12-6025910-CTGG-C |
c.3101_3103del |
p.T1034del |
InFrameDeletion |
23/52 |
- |
4 |
12-6025922-CA-GT |
c.3091_3092delinsAC |
p.C1031T |
Missense |
23/52 |
- |
2 |
12-6025922-C-T |
c.3092G>A |
p.C1031Y |
Missense |
23/52 |
- |
1 |
12-6025925-T-C |
c.3089A>G |
p.Q1030R |
Missense |
23/52 |
- |
3 |
12-6025925-T-G |
c.3089A>C |
p.Q1030P |
Missense |
23/52 |
- |
1 |
12-6025930-G-A |
c.3084C>T |
p.S1028= |
Synonymous |
23/52 |
- |
1 |
12-6025935-C-A |
c.3079G>T |
p.V1027L |
Missense |
23/52 |
- |
1 |
12-6025935-C-G |
c.3079G>C |
p.V1027L |
Missense |
23/52 |
- |
1 |
12-6025935-C-T |
c.3079G>A |
p.V1027M |
Missense |
23/52 |
- |
1 |
12-6025941-AG-A |
c.3072del |
p.W1025Gfs*3 |
Frameshift |
23/52 |
- |
1 |
12-6025943-G-T |
c.3071C>A |
p.S1024Y |
Missense |
23/52 |
- |
1 |
12-6025946-T-C |
c.3068A>G |
p.N1023S |
Missense |
23/52 |
- |
1 |
12-6025949-C-G |
c.3065G>C |
p.G1022A |
Missense |
23/52 |
- |
1 |
12-6025949-C-T |
c.3065G>A |
p.G1022E |
Missense |
23/52 |
- |
1 |
12-6025950-C-A |
c.3064G>T |
p.G1022W |
Missense |
23/52 |
- |
3 |
12-6025954-G-A |
c.3060C>T |
p.D1020= |
Synonymous |
23/52 |
- |
1 |
12-6025962-G-A |
c.3052C>T |
p.P1018S |
Missense |
23/52 |
- |
1 |
12-6025965-C-T |
c.3049G>A |
p.D1017N |
Missense |
23/52 |
- |
3 |
12-6025968-C-T |
c.3046G>A |
p.E1016K |
Missense |
23/52 |
- |
1 |
12-6025969-C-T |
c.3045G>A |
p.E1015= |
Synonymous |
23/52 |
- |
1 |
12-6025976-T-C |
c.3038A>G |
p.Q1013R |
Missense |
23/52 |
- |
1 |
12-6025991-G-A |
c.3023C>T |
p.T1008I |
Missense |
23/52 |
- |
1 |
12-6025991-G-T |
c.3023C>A |
p.T1008N |
Missense |
23/52 |
- |
1 |
12-6026001-T-C |
c.3013A>G |
p.N1005D |
Missense |
23/52 |
- |
1 |
12-6026002-G-C |
c.3012C>G |
p.N1004K |
Missense |
23/52 |
- |
1 |
12-6026002-G-T |
c.3012C>A |
p.N1004K |
Missense |
23/52 |
- |
1 |
12-6026004-T-A |
c.3010A>T |
p.N1004Y |
Missense |
23/52 |
- |
2 |
12-6026006-T-C |
c.3008A>G |
p.Q1003R |
Missense |
23/52 |
- |
1 |
12-6026012-C-T |
c.3002G>A |
p.G1001D |
Missense |
23/52 |
- |
3 |
12-6026020-A-G |
c.2994T>C |
p.N998= |
Synonymous |
23/52 |
- |
1 |
12-6026021-T-C |
c.2993A>G |
p.N998S |
Missense |
23/52 |
- |
1 |
12-6026023-C-A |
c.2991G>T |
p.G997= |
Synonymous |
23/52 |
- |
1 |
12-6026023-C-G |
c.2991G>C |
p.G997= |
Synonymous |
23/52 |
- |
1 |
12-6026023-C-T |
c.2991G>A |
p.G997= |
Synonymous |
23/52 |
- |
3 |
12-6026024-CC-TA |
c.2989_2990delinsTA |
p.G997* |
Nonsense |
23/52 |
- |
1 |
12-6026024-C-T |
c.2990G>A |
p.G997E |
Missense |
23/52 |
- |
4 |
12-6026027-C-A |
c.2987G>T |
p.C996F |
Missense |
23/52 |
- |
1 |
12-6026027-CA-GC |
c.2986_2987delinsGC |
p.C996A |
Missense |
23/52 |
- |
1 |
12-6026029-C-A |
c.2985G>T |
p.L995= |
Synonymous |
23/52 |
- |
1 |
12-6026029-CAG-AAA |
c.2983_2985delinsTTT |
p.L995F |
Missense |
23/52 |
- |
1 |
12-6026023-CCCACACAGG-C |
c.2982_2990del |
p.L995_G997del |
InFrameDeletion |
23/52 |
- |
1 |
12-6026032-GC-CT |
c.2981_2982delinsAG |
p.G994E |
Missense |
23/52 |
- |
1 |
12-6026033-C-A |
c.2981G>T |
p.G994V |
Missense |
23/52 |
- |
1 |
12-6026033-C-G |
c.2981G>C |
p.G994A |
Missense |
23/52 |
- |
2 |
12-6026033-C-T |
c.2981G>A |
p.G994D |
Missense |
23/52 |
- |
1 |
12-6026040-C-A |
c.2974G>T |
p.V992L |
Missense |
23/52 |
- |
4 |
12-6026040-C-G |
c.2974G>C |
p.V992L |
Missense |
23/52 |
- |
2 |
12-6026040-C-T |
c.2974G>A |
p.V992M |
Missense |
23/52 |
- |
1 |
12-6026043-T-G |
c.2971A>C |
p.K991Q |
Missense |
23/52 |
- |
1 |
12-6026046-C-T |
c.2968G>A |
p.E990K |
Missense |
23/52 |
- |
1 |
12-6026099-C-T |
c.2968-53G>A |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6026171-G-A |
c.2968-125C>T |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6026200-G-A |
c.2968-154C>T |
- |
IntronicSNV |
- |
22/51 |
2 |
12-6026329-A-T |
c.2968-283T>A |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6026987-T-C |
c.2968-941A>G |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027468-G-A |
c.2968-1422C>T |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027536-C-T |
c.2968-1490G>A |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027618-G-A |
c.2968-1572C>T |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027636-G-A |
c.2968-1590C>T |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027748-A-G |
c.2967+1594T>C |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6027802-G-C |
c.2967+1540C>G |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6028290-A-C |
c.2967+1052T>G |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6029219-T-C |
c.2967+123A>G |
- |
IntronicSNV |
- |
22/51 |
2 |
12-6029244-T-C |
c.2967+98A>G |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6029248-T-G |
c.2967+94A>C |
- |
IntronicSNV |
- |
22/51 |
1 |
12-6029342-C-A |
c.2967G>T |
p.Q989H |
Missense |
22/52 |
- |
1 |
12-6029342-C-G |
c.2967G>C |
p.Q989H |
Missense |
22/52 |
- |
1 |
12-6029343-T-C |
c.2966A>G |
p.Q989R |
Missense |
22/52 |
- |
1 |
12-6029344-G-T |
c.2965C>A |
p.Q989K |
Missense |
22/52 |
- |
3 |
12-6029349-G-A |
c.2960C>T |
p.T987I |
Missense |
22/52 |
- |
1 |
12-6029356-T-C |
c.2953A>G |
p.K985E |
Missense |
22/52 |
- |
1 |
12-6029359-G-T |
c.2950C>A |
p.L984M |
Missense |
22/52 |
- |
1 |
12-6029362-C-T |
c.2947G>A |
p.V983I |
Missense |
22/52 |
- |
2 |
12-6029365-C-G |
c.2944G>C |
p.V982L |
Missense |
22/52 |
- |
2 |
12-6029365-C-T |
c.2944G>A |
p.V982M |
Missense |
22/52 |
- |
5 |
12-6029366-G-A |
c.2943C>T |
p.S981= |
Synonymous |
22/52 |
- |
6 |
12-6029366-G-C |
c.2943C>G |
p.S981= |
Synonymous |
22/52 |
- |
1 |
12-6029366-G-T |
c.2943C>A |
p.S981= |
Synonymous |
22/52 |
- |
1 |
12-6029369-G-T |
c.2940C>A |
p.I980= |
Synonymous |
22/52 |
- |
1 |
12-6029371-T-C |
c.2938A>G |
p.I980V |
Missense |
22/52 |
- |
1 |
12-6029372-G-C |
c.2937C>G |
p.S979R |
Missense |
22/52 |
- |
1 |
12-6029372-G-T |
c.2937C>A |
p.S979R |
Missense |
22/52 |
- |
1 |
12-6029374-T-G |
c.2935A>C |
p.S979R |
Missense |
22/52 |
- |
1 |
12-6029373-C-A |
c.2936G>T |
p.S979I |
Missense |
22/52 |
- |
1 |
12-6029373-C-G |
c.2936G>C |
p.S979T |
Missense |
22/52 |
- |
1 |
12-6029373-C-T |
c.2936G>A |
p.S979N |
Missense |
22/52 |
- |
4 |
12-6029374-CTCAGGT-C |
c.2930_2935del |
p.H977_S979delinsR |
MultiAAMissense |
22/52 |
- |
1 |
12-6029375-CAG-AAA |
c.2932_2934delinsTTT |
p.L978F |
Missense |
22/52 |
- |
1 |
12-6029378-G-A |
c.2931C>T |
p.H977= |
Synonymous |
22/52 |
- |
1 |
12-6029382-C-T |
c.2927G>A |
p.R976H |
Missense |
22/52 |
- |
7 |
12-6029383-G-A |
c.2926C>T |
p.R976C |
Missense |
22/52 |
- |
5 |
12-6029385-T-A |
c.2924A>T |
p.D975V |
Missense |
22/52 |
- |
1 |
12-6029386-C-T |
c.2923G>A |
p.D975N |
Missense |
22/52 |
- |
1 |
12-6029387-C-A |
c.2922G>T |
p.W974C |
Missense |
22/52 |
- |
4 |
12-6029387-C-G |
c.2922G>C |
p.W974C |
Missense |
22/52 |
- |
2 |
12-6029387-C-T |
c.2922G>A |
p.W974* |
Nonsense |
22/52 |
- |
1 |
12-6029388-C-T |
c.2921G>A |
p.W974* |
Nonsense |
22/52 |
- |
2 |
12-6029393-C-A |
c.2916G>T |
p.V972= |
Synonymous |
22/52 |
- |
1 |
12-6029393-C-G |
c.2916G>C |
p.V972= |
Synonymous |
22/52 |
- |
1 |
12-6029393-C-T |
c.2916G>A |
p.V972= |
Synonymous |
22/52 |
- |
1 |
12-6029395-C-T |
c.2914G>A |
p.V972M |
Missense |
22/52 |
- |
5 |
12-6029396-G-A |
c.2913C>T |
p.S971= |
Synonymous |
22/52 |
- |
2 |
12-6029396-G-C |
c.2913C>G |
p.S971= |
Synonymous |
22/52 |
- |
1 |
12-6029396-G-T |
c.2913C>A |
p.S971= |
Synonymous |
22/52 |
- |
1 |
12-6029397-G-A |
c.2912C>T |
p.S971F |
Missense |
22/52 |
- |
4 |
12-6029398-AGAG-A |
c.2908_2910del |
p.L970del |
InFrameDeletion |
22/52 |
- |
1 |
12-6029400-AG-A |
c.2908del |
p.L970Sfs*9 |
Frameshift |
22/52 |
- |
1 |
12-6029403-G-A |
c.2906C>T |
p.A969V |
Missense |
22/52 |
- |
1 |
12-6029404-C-A |
c.2905G>T |
p.A969S |
Missense |
22/52 |
- |
1 |
12-6029404-C-T |
c.2905G>A |
p.A969T |
Missense |
22/52 |
- |
1 |
12-6029409-C-A |
c.2900G>T |
p.G967V |
Missense |
22/52 |
- |
1 |
12-6029409-C-T |
c.2900G>A |
p.G967D |
Missense |
22/52 |
- |
7 |
12-6029411-C-T |
c.2898G>A |
p.L966= |
Synonymous |
22/52 |
- |
1 |
12-6029419-G-A |
c.2890C>T |
p.L964= |
Synonymous |
22/52 |
- |
2 |
12-6029422-T-C |
c.2887A>G |
p.I963V |
Missense |
22/52 |
- |
1 |
12-6029423-G-A |
c.2886C>T |
p.I962= |
Synonymous |
22/52 |
- |
1 |
12-6029423-G-T |
c.2886C>A |
p.I962= |
Synonymous |
22/52 |
- |
1 |
12-6029425-T-A |
c.2884A>T |
p.I962F |
Missense |
22/52 |
- |
1 |
12-6029429-C-T |
c.2880G>A |
p.R960= |
Synonymous |
22/52 |
- |
17 |
12-6029430-C-G |
c.2879G>C |
p.R960P |
Missense |
22/52 |
- |
4 |
12-6029430-CG-TA |
c.2878_2879delinsTA |
p.R960* |
Nonsense |
22/52 |
- |
1 |
12-6029430-C-T |
c.2879G>A |
p.R960Q |
Missense |
22/52 |
- |
3 |
12-6029429-C-A |
c.2880G>T |
p.R960= |
Synonymous |
22/52 |
- |
3 |
12-6029429-C-G |
c.2880G>C |
p.R960= |
Synonymous |
22/52 |
- |
3 |
12-6029431-G-A |
c.2878C>T |
p.R960W |
Missense |
22/52 |
- |
5 |
12-6029431-G-C |
c.2878C>G |
p.R960G |
Missense |
22/52 |
- |
1 |
12-6029431-G-T |
c.2878C>A |
p.R960= |
Synonymous |
22/52 |
- |
3 |
12-6029433-C-A |
c.2876G>T |
p.G959V |
Missense |
22/52 |
- |
1 |
12-6029438-C-T |
c.2871G>A |
p.E957= |
Synonymous |
22/52 |
- |
1 |
12-6029440-C-T |
c.2869G>A |
p.E957K |
Missense |
22/52 |
- |
1 |
12-6029441-C-T |
c.2868G>A |
p.V956= |
Synonymous |
22/52 |
- |
3 |
12-6029443-C-T |
c.2866G>A |
p.V956M |
Missense |
22/52 |
- |
1 |
12-6029444-C-A |
c.2865G>T |
p.V955= |
Synonymous |
22/52 |
- |
1 |
12-6029446-C-T |
c.2863G>A |
p.V955M |
Missense |
22/52 |
- |
1 |
12-6029449-C-T |
c.2860G>A |
p.E954K |
Missense |
22/52 |
- |
1 |
12-6029453-G-A |
c.2856C>T |
p.H952= |
Synonymous |
22/52 |
- |
2 |
12-6029453-G-C |
c.2856C>G |
p.H952Q |
Missense |
22/52 |
- |
1 |
12-6029453-G-T |
c.2856C>A |
p.H952Q |
Missense |
22/52 |
- |
2 |
12-6029462-A-C |
c.2847T>G |
p.D949E |
Missense |
22/52 |
- |
1 |
12-6029464-C-T |
c.2845G>A |
p.D949N |
Missense |
22/52 |
- |
2 |
12-6029468-C-A |
c.2841G>T |
p.M947I |
Missense |
22/52 |
- |
2 |
12-6029472-G-A |
c.2837C>T |
p.P946L |
Missense |
22/52 |
- |
7 |
12-6029472-G-T |
c.2837C>A |
p.P946H |
Missense |
22/52 |
- |
1 |
12-6029474-CCT-ACA |
c.2833_2835delinsTGT |
p.R945C |
Missense |
22/52 |
- |
1 |
12-6029475-C-T |
c.2834G>A |
p.R945K |
Missense |
22/52 |
- |
1 |
12-6029486-C-A |
c.2823G>T |
p.V941= |
Synonymous |
22/52 |
- |
1 |
12-6029486-C-T |
c.2823G>A |
p.V941= |
Synonymous |
22/52 |
- |
1 |
12-6029488-C-A |
c.2821G>T |
p.V941L |
Missense |
22/52 |
- |
1 |
12-6029488-C-G |
c.2821G>C |
p.V941L |
Missense |
22/52 |
- |
1 |
12-6029536-G-A |
c.2821-48C>T |
- |
IntronicSNV |
- |
21/51 |
6 |
12-6029536-G-C |
c.2821-48C>G |
- |
IntronicSNV |
- |
21/51 |
6 |
12-6029958-ATCAG-A |
c.2821-473_2821-470del |
- |
IntronicDeletion |
- |
21/51 |
1 |
12-6030095-A-C |
c.2821-607T>G |
- |
IntronicSNV |
- |
21/51 |
3 |
12-6030526-C-A |
c.2820+918G>T |
- |
IntronicSNV |
- |
21/51 |
1 |
12-6030526-C-T |
c.2820+918G>A |
- |
IntronicSNV |
- |
21/51 |
1 |
12-6031447-CC-GT |
c.2816_2817delinsAC |
p.G939D |
Missense |
21/52 |
- |
1 |
12-6031448-C-A |
c.2816G>T |
p.G939V |
Missense |
21/52 |
- |
2 |
12-6031448-CC-TA |
c.2815_2816delinsTA |
p.G939* |
Nonsense |
21/52 |
- |
1 |
12-6031449-C-A |
c.2815G>T |
p.G939W |
Missense |
21/52 |
- |
1 |
12-6031449-C-G |
c.2815G>C |
p.G939R |
Missense |
21/52 |
- |
1 |
12-6031449-C-T |
c.2815G>A |
p.G939R |
Missense |
21/52 |
- |
2 |
12-6031452-C-T |
c.2812G>A |
p.D938N |
Missense |
21/52 |
- |
1 |
12-6031455-A-G |
c.2809T>C |
p.F937L |
Missense |
21/52 |
- |
1 |
12-6031462-A-C |
c.2802T>G |
p.I934M |
Missense |
21/52 |
- |
1 |
12-6031462-A-G |
c.2802T>C |
p.I934= |
Synonymous |
21/52 |
- |
1 |
12-6031462-A-T |
c.2802T>A |
p.I934= |
Synonymous |
21/52 |
- |
1 |
12-6031469-C-T |
c.2795G>A |
p.G932E |
Missense |
21/52 |
- |
2 |
12-6031472-C-G |
c.2792G>C |
p.G931A |
Missense |
21/52 |
- |
2 |
12-6031477-C-A |
c.2787G>T |
p.V929= |
Synonymous |
21/52 |
- |
1 |
12-6031477-C-G |
c.2787G>C |
p.V929= |
Synonymous |
21/52 |
- |
1 |
12-6031477-C-T |
c.2787G>A |
p.V929= |
Synonymous |
21/52 |
- |
1 |
12-6031479-C-A |
c.2785G>T |
p.V929L |
Missense |
21/52 |
- |
1 |
12-6031479-C-G |
c.2785G>C |
p.V929L |
Missense |
21/52 |
- |
1 |
12-6031483-G-A |
c.2781C>T |
p.I927= |
Synonymous |
21/52 |
- |
4 |
12-6031483-G-T |
c.2781C>A |
p.I927= |
Synonymous |
21/52 |
- |
1 |
12-6031493-C-T |
c.2771G>A |
p.R924Q |
Missense |
21/52 |
- |
36 |
12-6031492-C-A |
c.2772G>T |
p.R924= |
Synonymous |
21/52 |
- |
1 |
12-6031492-C-G |
c.2772G>C |
p.R924= |
Synonymous |
21/52 |
- |
1 |
12-6031492-C-T |
c.2772G>A |
p.R924= |
Synonymous |
21/52 |
- |
1 |
12-6031494-G-A |
c.2770C>T |
p.R924W |
Missense |
21/52 |
- |
3 |
12-6031494-G-T |
c.2770C>A |
p.R924= |
Synonymous |
21/52 |
- |
2 |
12-6031496-T-C |
c.2768A>G |
p.K923R |
Missense |
21/52 |
- |
1 |
12-6031496-T-G |
c.2768A>C |
p.K923T |
Missense |
21/52 |
- |
1 |
12-6031501-G-C |
c.2763C>G |
p.C921W |
Missense |
21/52 |
- |
1 |
12-6031501-G-T |
c.2763C>A |
p.C921* |
Nonsense |
21/52 |
- |
1 |
12-6031502-CA-GC |
c.2761_2762delinsGC |
p.C921A |
Missense |
21/52 |
- |
1 |
12-6031508-A-G |
c.2756T>C |
p.V919A |
Missense |
21/52 |
- |
2 |
12-6031509-C-T |
c.2755G>A |
p.V919M |
Missense |
21/52 |
- |
2 |
12-6031511-G-C |
c.2753C>G |
p.S918* |
Nonsense |
21/52 |
- |
1 |
12-6031513-G-A |
c.2751C>T |
p.P917= |
Synonymous |
21/52 |
- |
2 |
12-6031514-G-A |
c.2750C>T |
p.P917L |
Missense |
21/52 |
- |
5 |
12-6031523-CA-GT |
c.2740_2741delinsAC |
p.C914T |
Missense |
21/52 |
- |
1 |
12-6031525-T-A |
c.2739A>T |
p.G913= |
Synonymous |
21/52 |
- |
1 |
12-6031525-T-G |
c.2739A>C |
p.G913= |
Synonymous |
21/52 |
- |
3 |
12-6031525-T-TA |
c.2738_2739insT |
p.C914Mfs*22 |
Frameshift |
21/52 |
- |
1 |
12-6031526-C-G |
c.2738G>C |
p.G913A |
Missense |
21/52 |
- |
1 |
12-6031526-C-T |
c.2738G>A |
p.G913E |
Missense |
21/52 |
- |
2 |
12-6031530-T-TA |
c.2733dup |
p.K912* |
Nonsense |
21/52 |
- |
1 |
12-6031532-T-A |
c.2732A>T |
p.N911I |
Missense |
21/52 |
- |
1 |
12-6031532-T-C |
c.2732A>G |
p.N911S |
Missense |
21/52 |
- |
1 |
12-6031533-T-TA |
c.2730_2731insT |
p.N911* |
Nonsense |
21/52 |
- |
1 |
12-6031535-C-G |
c.2729G>C |
p.G910A |
Missense |
21/52 |
- |
1 |
12-6031533-TC-T |
c.2730del |
p.N911Ifs*9 |
Frameshift |
21/52 |
- |
1 |
12-6031537-C-T |
c.2727G>A |
p.V909= |
Synonymous |
21/52 |
- |
2 |
12-6031541-A-G |
c.2723T>C |
p.L908P |
Missense |
21/52 |
- |
1 |
12-6031543-G-A |
c.2721C>T |
p.I907= |
Synonymous |
21/52 |
- |
1 |
12-6031546-C-G |
c.2718G>C |
p.R906= |
Synonymous |
21/52 |
- |
4 |
12-6031546-C-T |
c.2718G>A |
p.R906= |
Synonymous |
21/52 |
- |
3 |
12-6031547-CG-TA |
c.2716_2717delinsTA |
p.R906* |
Nonsense |
21/52 |
- |
2 |
12-6031547-C-T |
c.2717G>A |
p.R906Q |
Missense |
21/52 |
- |
3 |
12-6031546-C-A |
c.2718G>T |
p.R906= |
Synonymous |
21/52 |
- |
3 |
12-6031548-G-A |
c.2716C>T |
p.R906W |
Missense |
21/52 |
- |
1 |
12-6031548-G-T |
c.2716C>A |
p.R906= |
Synonymous |
21/52 |
- |
2 |
12-6031553-G-T |
c.2711C>A |
p.T904N |
Missense |
21/52 |
- |
1 |
12-6031554-T-C |
c.2710A>G |
p.T904A |
Missense |
21/52 |
- |
2 |
12-6031556-C-A |
c.2708G>T |
p.G903V |
Missense |
21/52 |
- |
1 |
12-6031556-C-T |
c.2708G>A |
p.G903E |
Missense |
21/52 |
- |
1 |
12-6031561-G-A |
c.2703C>T |
p.N901= |
Synonymous |
21/52 |
- |
2 |
12-6031561-G-T |
c.2703C>A |
p.N901K |
Missense |
21/52 |
- |
2 |
12-6031562-T-C |
c.2702A>G |
p.N901S |
Missense |
21/52 |
- |
1 |
12-6031564-A-G |
c.2700T>C |
p.S900= |
Synonymous |
21/52 |
- |
1 |
12-6031565-C-T |
c.2699G>A |
p.S900N |
Missense |
21/52 |
- |
2 |
12-6031569-C-A |
c.2695G>T |
p.G899C |
Missense |
21/52 |
- |
1 |
12-6031569-C-G |
c.2695G>C |
p.G899R |
Missense |
21/52 |
- |
2 |
12-6031569-C-T |
c.2695G>A |
p.G899S |
Missense |
21/52 |
- |
3 |
12-6031570-G-A |
c.2694C>T |
p.C898= |
Synonymous |
21/52 |
- |
1 |
12-6031570-G-C |
c.2694C>G |
p.C898W |
Missense |
21/52 |
- |
1 |
12-6031571-C-A |
c.2693G>T |
p.C898F |
Missense |
21/52 |
- |
3 |
12-6031574-T-G |
c.2690A>C |
p.Y897S |
Missense |
21/52 |
- |
1 |
12-6031577-T-C |
c.2687A>G |
p.D896G |
Missense |
21/52 |
- |
2 |
12-6031580-T-C |
c.2686-2A>G |
- |
IntronicSNV |
- |
20/51 |
1 |
12-6031580-T-G |
c.2686-2A>C |
- |
IntronicSNV |
- |
20/51 |
1 |
12-6034541-C-T |
c.2685+147G>A |
- |
IntronicSNV |
- |
20/51 |
1 |
12-6034688-C-A |
c.2685G>T |
p.Q895H |
Missense |
20/52 |
- |
3 |
12-6034688-C-G |
c.2685G>C |
p.Q895H |
Missense |
20/52 |
- |
3 |
12-6034690-TGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGG-T |
c.2625_2683del |
p.Y875* |
InFrameDeletion |
20/52 |
- |
1 |
12-6034695-A-C |
c.2678T>G |
p.L893R |
Missense |
20/52 |
- |
1 |
12-6034695-A-T |
c.2678T>A |
p.L893Q |
Missense |
20/52 |
- |
1 |
12-6034696-G-T |
c.2677C>A |
p.L893M |
Missense |
20/52 |
- |
1 |
12-6034699-C-T |
c.2674G>A |
p.V892I |
Missense |
20/52 |
- |
1 |
12-6034700-G-A |
c.2673C>T |
p.Y891= |
Synonymous |
20/52 |
- |
1 |
12-6034703-C-T |
c.2670G>A |
p.Q890= |
Synonymous |
20/52 |
- |
1 |
12-6034706-G-A |
c.2667C>T |
p.C889= |
Synonymous |
20/52 |
- |
1 |
12-6034708-A-G |
c.2665T>C |
p.C889R |
Missense |
20/52 |
- |
1 |
12-6034709-C-T |
c.2664G>A |
p.E888= |
Synonymous |
20/52 |
- |
1 |
12-6034711-C-A |
c.2662G>T |
p.E888* |
Nonsense |
20/52 |
- |
1 |
12-6034714-C-G |
c.2659G>C |
p.G887R |
Missense |
20/52 |
- |
1 |
12-6034714-C-T |
c.2659G>A |
p.G887R |
Missense |
20/52 |
- |
3 |
12-6034717-G-A |
c.2656C>T |
p.P886S |
Missense |
20/52 |
- |
5 |
12-6034718-G-A |
c.2655C>T |
p.F885= |
Synonymous |
20/52 |
- |
1 |
12-6034719-A-G |
c.2654T>C |
p.F885S |
Missense |
20/52 |
- |
2 |
12-6034718-G-C |
c.2655C>G |
p.F885L |
Missense |
20/52 |
- |
1 |
12-6034721-CAG-GAT |
c.2650_2652delinsATC |
p.L884I |
Missense |
20/52 |
- |
1 |
12-6034722-A-C |
c.2651T>G |
p.L884R |
Missense |
20/52 |
- |
1 |
12-6034723-G-GCAAA |
c.2649_2650insTTTG |
p.L884Ffs*19 |
Frameshift |
20/52 |
- |
1 |
12-6034723-G-T |
c.2650C>A |
p.L884M |
Missense |
20/52 |
- |
3 |
12-6034729-T-G |
c.2644A>C |
p.K882Q |
Missense |
20/52 |
- |
1 |
12-6034731-A-C |
c.2642T>G |
p.L881R |
Missense |
20/52 |
- |
2 |
12-6034731-A-T |
c.2642T>A |
p.L881H |
Missense |
20/52 |
- |
1 |
12-6034732-AG-A |
c.2641del |
p.L881Sfs*28 |
Frameshift |
20/52 |
- |
1 |
12-6034733-C-A |
c.2640G>T |
p.G880= |
Synonymous |
20/52 |
- |
1 |
12-6034734-C-T |
c.2639G>A |
p.G880E |
Missense |
20/52 |
- |
2 |
12-6034738-C-T |
c.2635G>A |
p.D879N |
Missense |
20/52 |
- |
2 |
12-6034739-G-A |
c.2634C>T |
p.F878= |
Synonymous |
20/52 |
- |
2 |
12-6034739-G-C |
c.2634C>G |
p.F878L |
Missense |
20/52 |
- |
1 |
12-6034739-G-T |
c.2634C>A |
p.F878L |
Missense |
20/52 |
- |
1 |
12-6034741-A-G |
c.2632T>C |
p.F878L |
Missense |
20/52 |
- |
1 |
12-6034741-A-T |
c.2632T>A |
p.F878I |
Missense |
20/52 |
- |
2 |
12-6034747-G-A |
c.2626C>T |
p.L876F |
Missense |
20/52 |
- |
1 |
12-6034752-TG-GC |
c.2620_2621delinsGC |
p.H874A |
Missense |
20/52 |
- |
1 |
12-6034753-G-A |
c.2620C>T |
p.H874Y |
Missense |
20/52 |
- |
1 |
12-6034753-G-T |
c.2620C>A |
p.H874N |
Missense |
20/52 |
- |
1 |
12-6034755-G-A |
c.2618C>T |
p.A873V |
Missense |
20/52 |
- |
1 |
12-6034757-C-T |
c.2616G>A |
p.M872I |
Missense |
20/52 |
- |
2 |
12-6034761-C-G |
c.2612G>C |
p.G871A |
Missense |
20/52 |
- |
1 |
12-6034761-C-T |
c.2612G>A |
p.G871D |
Missense |
20/52 |
- |
1 |
12-6034762-C-A |
c.2611G>T |
p.G871C |
Missense |
20/52 |
- |
1 |
12-6034762-C-T |
c.2611G>A |
p.G871S |
Missense |
20/52 |
- |
1 |
12-6034763-G-A |
c.2610C>T |
p.I870= |
Synonymous |
20/52 |
- |
3 |
12-6034763-G-T |
c.2610C>A |
p.I870= |
Synonymous |
20/52 |
- |
1 |
12-6034766-C-A |
c.2607G>T |
p.T869= |
Synonymous |
20/52 |
- |
1 |
12-6034766-C-G |
c.2607G>C |
p.T869= |
Synonymous |
20/52 |
- |
3 |
12-6034766-C-T |
c.2607G>A |
p.T869= |
Synonymous |
20/52 |
- |
2 |
12-6034767-G-A |
c.2606C>T |
p.T869M |
Missense |
20/52 |
- |
3 |
12-6034770-G-A |
c.2603C>T |
p.S868F |
Missense |
20/52 |
- |
1 |
12-6034770-G-C |
c.2603C>G |
p.S868C |
Missense |
20/52 |
- |
1 |
12-6034773-C-T |
c.2600G>A |
p.C867Y |
Missense |
20/52 |
- |
1 |
12-6034775-CGT-ACA |
c.2596_2598delinsTGT |
p.T866C |
Missense |
20/52 |
- |
1 |
12-6034775-C-T |
c.2598G>A |
p.T866= |
Synonymous |
20/52 |
- |
2 |
12-6034776-G-A |
c.2597C>T |
p.T866M |
Missense |
20/52 |
- |
1 |
12-6034776-G-C |
c.2597C>G |
p.T866R |
Missense |
20/52 |
- |
1 |
12-6034778-G-A |
c.2595C>T |
p.A865= |
Synonymous |
20/52 |
- |
2 |
12-6034779-GC-CA |
c.2593_2594delinsTG |
p.A865C |
Missense |
20/52 |
- |
1 |
12-6034779-G-T |
c.2594C>A |
p.A865D |
Missense |
20/52 |
- |
1 |
12-6034781-A-C |
c.2592T>G |
p.D864E |
Missense |
20/52 |
- |
1 |
12-6034782-T-C |
c.2591A>G |
p.D864G |
Missense |
20/52 |
- |
1 |
12-6034784-A-G |
c.2589T>C |
p.C863= |
Synonymous |
20/52 |
- |
1 |
12-6034785-C-A |
c.2588G>T |
p.C863F |
Missense |
20/52 |
- |
2 |
12-6034785-C-T |
c.2588G>A |
p.C863Y |
Missense |
20/52 |
- |
1 |
12-6034787-C-A |
c.2586G>T |
p.V862= |
Synonymous |
20/52 |
- |
3 |
12-6034787-C-T |
c.2586G>A |
p.V862= |
Synonymous |
20/52 |
- |
1 |
12-6034788-A-G |
c.2585T>C |
p.V862A |
Missense |
20/52 |
- |
1 |
12-6034789-C-A |
c.2584G>T |
p.V862L |
Missense |
20/52 |
- |
2 |
12-6034789-C-G |
c.2584G>C |
p.V862L |
Missense |
20/52 |
- |
2 |
12-6034788-ACATGGTCTGTG-A |
c.2574_2584del |
p.T859Vfs*2 |
Frameshift |
20/52 |
- |
1 |
12-6034792-G-A |
c.2581C>T |
p.H861Y |
Missense |
20/52 |
- |
1 |
12-6034796-TG-GT |
c.2576_2577delinsAC |
p.T859N |
Missense |
20/52 |
- |
2 |
12-6034798-T-C |
c.2575A>G |
p.T859A |
Missense |
20/52 |
- |
2 |
12-6034799-G-C |
c.2574C>G |
p.C858W |
Missense |
20/52 |
- |
3 |
12-6034800-C-A |
c.2573G>T |
p.C858F |
Missense |
20/52 |
- |
5 |
12-6034800-C-T |
c.2573G>A |
p.C858Y |
Missense |
20/52 |
- |
1 |
12-6034800-C-G |
c.2573G>C |
p.C858S |
Missense |
20/52 |
- |
2 |
12-6034801-A-T |
c.2572T>A |
p.C858S |
Missense |
20/52 |
- |
2 |
12-6034802-GTT-TTG |
c.2569_2571delinsCAA |
p.N857Q |
Missense |
20/52 |
- |
2 |
12-6034804-T-C |
c.2569A>G |
p.N857D |
Missense |
20/52 |
- |
1 |
12-6034805-C-T |
c.2568G>A |
p.W856* |
Nonsense |
20/52 |
- |
2 |
12-6034806-C-T |
c.2567G>A |
p.W856* |
Nonsense |
20/52 |
- |
2 |
12-6034811-CC-AT |
c.2561_2562delinsAT |
p.R854H |
Missense |
20/52 |
- |
1 |
12-6034811-C-T |
c.2562G>A |
p.R854= |
Synonymous |
20/52 |
- |
4 |
12-6034812-CG-TT |
c.2560_2561delinsAA |
p.R854K |
Missense |
20/52 |
- |
1 |
12-6034812-C-T |
c.2561G>A |
p.R854Q |
Missense |
20/52 |
- |
75 |
12-6034811-C-A |
c.2562G>T |
p.R854= |
Synonymous |
20/52 |
- |
2 |
12-6034811-C-G |
c.2562G>C |
p.R854= |
Synonymous |
20/52 |
- |
2 |
12-6034813-G-A |
c.2560C>T |
p.R854W |
Missense |
20/52 |
- |
9 |
12-6034813-G-C |
c.2560C>G |
p.R854G |
Missense |
20/52 |
- |
1 |
12-6034813-G-T |
c.2560C>A |
p.R854= |
Synonymous |
20/52 |
- |
3 |
12-6034818-T-C |
c.2555A>G |
p.Q852R |
Missense |
20/52 |
- |
49 |
12-6034821-C-T |
c.2552G>A |
p.C851Y |
Missense |
20/52 |
- |
1 |
12-6034823-G-T |
c.2550C>A |
p.V850= |
Synonymous |
20/52 |
- |
2 |
12-6034972-G-A |
c.2547-146C>T |
- |
IntronicSNV |
- |
19/51 |
1 |
12-6034998-T-C |
c.2547-172A>G |
- |
IntronicSNV |
- |
19/51 |
7 |
12-6035003-T-G |
c.2547-177A>C |
- |
IntronicSNV |
- |
19/51 |
6 |
12-6036256-C-T |
c.2546+132G>A |
- |
IntronicSNV |
- |
19/51 |
1 |
12-6036291-G-C |
c.2546+97C>G |
- |
IntronicSNV |
- |
19/51 |
1 |
12-6036333-C-A |
c.2546+55G>T |
- |
IntronicSNV |
- |
19/51 |
1 |
12-6036345-C-T |
c.2546+43G>A |
- |
IntronicSNV |
- |
19/51 |
1 |
12-6036363-G-A |
c.2546+25C>T |
- |
IntronicSNV |
- |
19/51 |
11 |
12-6036385-C-G |
c.2546+3G>C |
- |
IntronicSNV |
- |
19/51 |
2 |
12-6036388-C-A |
c.2546G>T |
p.C849F |
Missense |
19/52 |
- |
1 |
12-6036388-C-T |
c.2546G>A |
p.C849Y |
Missense |
19/52 |
- |
1 |
12-6036394-T-C |
c.2540A>G |
p.N847S |
Missense |
19/52 |
- |
1 |
12-6036398-A-C |
c.2536T>G |
p.C846G |
Missense |
19/52 |
- |
2 |
12-6036399-G-A |
c.2535C>T |
p.G845= |
Synonymous |
19/52 |
- |
1 |
12-6036399-G-C |
c.2535C>G |
p.G845= |
Synonymous |
19/52 |
- |
1 |
12-6036399-G-T |
c.2535C>A |
p.G845= |
Synonymous |
19/52 |
- |
1 |
12-6036401-C-G |
c.2533G>C |
p.G845R |
Missense |
19/52 |
- |
1 |
12-6036401-C-T |
c.2533G>A |
p.G845S |
Missense |
19/52 |
- |
1 |
12-6036405-C-G |
c.2529G>C |
p.K843N |
Missense |
19/52 |
- |
1 |
12-6036409-A-G |
c.2525T>C |
p.V842A |
Missense |
19/52 |
- |
1 |
12-6036409-A-T |
c.2525T>A |
p.V842E |
Missense |
19/52 |
- |
1 |
12-6036411-TGT-ACA |
c.2521_2523inv |
p.T841C |
Missense |
19/52 |
- |
1 |
12-6036412-G-C |
c.2522C>G |
p.T841R |
Missense |
19/52 |
- |
1 |
12-6036416-C-A |
c.2518G>T |
p.E840* |
Nonsense |
19/52 |
- |
2 |
12-6036418-C-G |
c.2516G>C |
p.G839A |
Missense |
19/52 |
- |
1 |
12-6036417-TC-T |
c.2516del |
p.G839Efs*4 |
Frameshift |
19/52 |
- |
3 |
12-6036421-G-A |
c.2513C>T |
p.P838L |
Missense |
19/52 |
- |
2 |
12-6036422-G-A |
c.2512C>T |
p.P838S |
Missense |
19/52 |
- |
1 |
12-6036424-G-A |
c.2510C>T |
p.A837V |
Missense |
19/52 |
- |
1 |
12-6036424-G-T |
c.2510C>A |
p.A837D |
Missense |
19/52 |
- |
7 |
12-6036427-T-C |
c.2507A>G |
p.Y836C |
Missense |
19/52 |
- |
1 |
12-6036426-ATACTCCT-A |
c.2501_2507del |
p.K834Mfs*7 |
Frameshift |
19/52 |
- |
1 |
12-6036428-ACTCCTTG-A |
c.2499_2505del |
p.K834Mfs*7 |
Frameshift |
19/52 |
- |
1 |
12-6036431-C-T |
c.2503G>A |
p.E835K |
Missense |
19/52 |
- |
3 |
12-6036436-C-G |
c.2498G>C |
p.G833A |
Missense |
19/52 |
- |
1 |
12-6036436-C-T |
c.2498G>A |
p.G833D |
Missense |
19/52 |
- |
3 |
12-6036437-C-A |
c.2497G>T |
p.G833C |
Missense |
19/52 |
- |
1 |
12-6036437-C-T |
c.2497G>A |
p.G833S |
Missense |
19/52 |
- |
2 |
12-6036439-T-C |
c.2495A>G |
p.Q832R |
Missense |
19/52 |
- |
1 |
12-6036442-TG-GC |
c.2491_2492delinsGC |
p.H831A |
Missense |
19/52 |
- |
1 |
12-6036443-G-A |
c.2491C>T |
p.H831Y |
Missense |
19/52 |
- |
2 |
12-6036449-A-T |
c.2485T>A |
p.C829S |
Missense |
19/52 |
- |
1 |
12-6036450-G-A |
c.2484C>T |
p.P828= |
Synonymous |
19/52 |
- |
2 |
12-6036451-G-A |
c.2483C>T |
p.P828L |
Missense |
19/52 |
- |
1 |
12-6036451-GG-AA |
c.2482_2483delinsTT |
p.P828F |
Missense |
19/52 |
- |
1 |
12-6036451-G-T |
c.2483C>A |
p.P828H |
Missense |
19/52 |
- |
1 |
12-6036452-G-A |
c.2482C>T |
p.P828S |
Missense |
19/52 |
- |
2 |
12-6036452-G-T |
c.2482C>A |
p.P828T |
Missense |
19/52 |
- |
1 |
12-6036453-A-G |
c.2481T>C |
p.C827= |
Synonymous |
19/52 |
- |
1 |
12-6036454-C-T |
c.2480G>A |
p.C827Y |
Missense |
19/52 |
- |
2 |
12-6036455-A-C |
c.2479T>G |
p.C827G |
Missense |
19/52 |
- |
1 |
12-6036455-A-T |
c.2479T>A |
p.C827S |
Missense |
19/52 |
- |
1 |
12-6036456-CCT-ACA |
c.2476_2478delinsTGT |
p.R826C |
Missense |
19/52 |
- |
1 |
12-6036456-CCT-ATG |
c.2476_2478delinsCAT |
p.R826H |
Missense |
19/52 |
- |
1 |
12-6036457-C-A |
c.2477G>T |
p.R826M |
Missense |
19/52 |
- |
1 |
12-6036457-C-T |
c.2477G>A |
p.R826K |
Missense |
19/52 |
- |
3 |
12-6036469-A-G |
c.2465T>C |
p.V822A |
Missense |
19/52 |
- |
1 |
12-6036472-CA-GC |
c.2461_2462delinsGC |
p.C821A |
Missense |
19/52 |
- |
1 |
12-6036473-A-C |
c.2461T>G |
p.C821G |
Missense |
19/52 |
- |
1 |
12-6036474-T-G |
c.2460A>C |
p.R820S |
Missense |
19/52 |
- |
1 |
12-6036475-C-T |
c.2459G>A |
p.R820K |
Missense |
19/52 |
- |
1 |
12-6036480-C-A |
c.2454G>T |
p.E818D |
Missense |
19/52 |
- |
1 |
12-6036480-C-T |
c.2454G>A |
p.E818= |
Synonymous |
19/52 |
- |
1 |
12-6036483-A-C |
c.2451T>G |
p.H817Q |
Missense |
19/52 |
- |
7 |
12-6036483-A-G |
c.2451T>C |
p.H817= |
Synonymous |
19/52 |
- |
1 |
12-6036483-A-T |
c.2451T>A |
p.H817Q |
Missense |
19/52 |
- |
16 |
12-6036484-T-C |
c.2450A>G |
p.H817R |
Missense |
19/52 |
- |
1 |
12-6036484-T-G |
c.2450A>C |
p.H817P |
Missense |
19/52 |
- |
1 |
12-6036485-G-A |
c.2449C>T |
p.H817Y |
Missense |
19/52 |
- |
2 |
12-6036487-C-T |
c.2447G>A |
p.R816Q |
Missense |
19/52 |
- |
4 |
12-6036488-G-A |
c.2446C>T |
p.R816W |
Missense |
19/52 |
- |
21 |
12-6036491-C-A |
c.2443G>T |
p.V815F |
Missense |
19/52 |
- |
1 |
12-6036491-C-T |
c.2443G>A |
p.V815I |
Missense |
19/52 |
- |
4 |
12-6036492-C-G |
c.2443-1G>C |
- |
IntronicSNV |
- |
18/51 |
2 |
12-6036782-G-A |
c.2443-291C>T |
- |
IntronicSNV |
- |
18/51 |
2 |
12-6036782-G-T |
c.2443-291C>A |
- |
IntronicSNV |
- |
18/51 |
2 |
12-6037464-G-A |
c.2443-973C>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6037464-G-C |
c.2443-973C>G |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6038839-T-C |
c.2443-2348A>G |
- |
IntronicSNV |
- |
18/51 |
3 |
12-6038839-T-G |
c.2443-2348A>C |
- |
IntronicSNV |
- |
18/51 |
3 |
12-6039160-A-G |
c.2443-2669T>C |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6039389-A-G |
c.2443-2898T>C |
- |
IntronicSNV |
- |
18/51 |
3 |
12-6039508-G-A |
c.2443-3017C>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6040118-T-C |
c.2443-3627A>G |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6040572-T-G |
c.2442+3719A>C |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6040610-GAGGCAGGATTCAAACCTGGAAGTGTGAGGTTCCGATACCATGCCGTTTCCAGGCGGTTT-G |
c.2442+3623_2442+3681del |
- |
Unclassified |
- |
18/51 |
1 |
12-6040633-G-A |
c.2442+3658C>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6041658-G-A |
c.2442+2633C>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6042431-G-A |
c.2442+1860C>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6042707-C-T |
c.2442+1584G>A |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6044253-C-A |
c.2442+38G>T |
- |
IntronicSNV |
- |
18/51 |
1 |
12-6044292-A-T |
c.2441T>A |
p.M814K |
Missense |
18/52 |
- |
1 |
12-6044290-CCATGCCCGGGGGGCAGAGGCAGCCAGAGA-C |
c.2414_2442del |
p.V805Gfs*4 |
SpliceDonorDeletion |
18/52 |
- |
1 |
12-6044292-A-AT |
c.2440dup |
p.M814Nfs*5 |
SpliceDonorInsertion |
18/52 |
- |
1 |
12-6044293-T-C |
c.2440A>G |
p.M814V |
Missense |
18/52 |
- |
1 |
12-6044295-C-T |
c.2438G>A |
p.G813D |
Missense |
18/52 |
- |
1 |
12-6044294-G-GC |
c.2438dup |
p.M814Hfs*5 |
Frameshift |
18/52 |
- |
3 |
12-6044297-C-A |
c.2436G>T |
p.P812= |
Synonymous |
18/52 |
- |
2 |
12-6044298-G-A |
c.2435C>T |
p.P812L |
Missense |
18/52 |
- |
5 |
12-6044298-G-C |
c.2435C>G |
p.P812R |
Missense |
18/52 |
- |
4 |
12-6044300-G-A |
c.2433C>T |
p.P811= |
Synonymous |
18/52 |
- |
1 |
12-6044300-G-C |
c.2433C>G |
p.P811= |
Synonymous |
18/52 |
- |
1 |
12-6044300-G-T |
c.2433C>A |
p.P811= |
Synonymous |
18/52 |
- |
1 |
12-6044301-G-A |
c.2432C>T |
p.P811L |
Missense |
18/52 |
- |
4 |
12-6044302-GG-T |
c.2430_2431delinsA |
p.C810* |
Frameshift |
18/52 |
- |
1 |
12-6044297-C-CG |
c.2435dup |
p.M814Hfs*5 |
Frameshift |
18/52 |
- |
2 |
12-6044297-CG-C |
c.2435del |
p.P812Rfs*31 |
Frameshift |
18/52 |
- |
19 |
12-6044303-G-T |
c.2430C>A |
p.C810* |
Nonsense |
18/52 |
- |
1 |
12-6044306-G-A |
c.2427C>T |
p.L809= |
Synonymous |
18/52 |
- |
1 |
12-6044306-G-C |
c.2427C>G |
p.L809= |
Synonymous |
18/52 |
- |
1 |
12-6044306-G-T |
c.2427C>A |
p.L809= |
Synonymous |
18/52 |
- |
1 |
12-6044307-A-G |
c.2426T>C |
p.L809P |
Missense |
18/52 |
- |
1 |
12-6044308-G-C |
c.2425C>G |
p.L809V |
Missense |
18/52 |
- |
1 |
12-6044322-C-A |
c.2411G>T |
p.C804F |
Missense |
18/52 |
- |
6 |
12-6044324-G-C |
c.2409C>G |
p.G803= |
Synonymous |
18/52 |
- |
1 |
12-6044324-GC-G |
c.2408del |
p.G803Afs*40 |
Frameshift |
18/52 |
- |
1 |
12-6044329-T-C |
c.2404A>G |
p.M802V |
Missense |
18/52 |
- |
1 |
12-6044335-T-A |
c.2398A>T |
p.M800L |
Missense |
18/52 |
- |
1 |
12-6044335-T-C |
c.2398A>G |
p.M800V |
Missense |
18/52 |
- |
1 |
12-6044340-T-G |
c.2393A>C |
p.E798A |
Missense |
18/52 |
- |
1 |
12-6044345-G-A |
c.2388C>T |
p.D796= |
Synonymous |
18/52 |
- |
3 |
12-6044345-G-T |
c.2388C>A |
p.D796E |
Missense |
18/52 |
- |
2 |
12-6044346-T-G |
c.2387A>C |
p.D796A |
Missense |
18/52 |
- |
1 |
12-6044347-C-G |
c.2386G>C |
p.D796H |
Missense |
18/52 |
- |
1 |
12-6044347-C-T |
c.2386G>A |
p.D796N |
Missense |
18/52 |
- |
3 |
12-6044348-A-G |
c.2385T>C |
p.Y795= |
Synonymous |
18/52 |
- |
41 |
12-6044349-T-C |
c.2384A>G |
p.Y795C |
Missense |
18/52 |
- |
6 |
12-6044352-T-G |
c.2381A>C |
p.N794T |
Missense |
18/52 |
- |
1 |
12-6044356-G-A |
c.2377C>T |
p.Q793* |
Nonsense |
18/52 |
- |
1 |
12-6044357-G-C |
c.2376C>G |
p.C792W |
Missense |
18/52 |
- |
1 |
12-6044360-C-T |
c.2373G>A |
p.T791= |
Synonymous |
18/52 |
- |
1 |
12-6044361-G-A |
c.2372C>T |
p.T791M |
Missense |
18/52 |
- |
15 |
12-6044364-TT-GC |
c.2368_2369delinsGC |
p.K790A |
Missense |
18/52 |
- |
1 |
12-6044366-G-A |
c.2367C>T |
p.T789= |
Synonymous |
18/52 |
- |
1 |
12-6044366-G-C |
c.2367C>G |
p.T789= |
Synonymous |
18/52 |
- |
1 |
12-6044366-G-T |
c.2367C>A |
p.T789= |
Synonymous |
18/52 |
- |
1 |
12-6044367-G-C |
c.2366C>G |
p.T789S |
Missense |
18/52 |
- |
1 |
12-6044368-T-A |
c.2365A>T |
p.T789S |
Missense |
18/52 |
- |
1 |
12-6044368-T-C |
c.2365A>G |
p.T789A |
Missense |
18/52 |
- |
86 |
12-6044368-T-G |
c.2365A>C |
p.T789P |
Missense |
18/52 |
- |
35 |
12-6044370-C-T |
c.2363G>A |
p.C788Y |
Missense |
18/52 |
- |
4 |
12-6044371-A-G |
c.2362T>C |
p.C788R |
Missense |
18/52 |
- |
8 |
12-6044373-T-C |
c.2360A>G |
p.E787G |
Missense |
18/52 |
- |
1 |
12-6044373-T-G |
c.2360A>C |
p.E787A |
Missense |
18/52 |
- |
1 |
12-6044374-C-G |
c.2359G>C |
p.E787Q |
Missense |
18/52 |
- |
1 |
12-6044374-C-T |
c.2359G>A |
p.E787K |
Missense |
18/52 |
- |
6 |
12-6044375-G-A |
c.2358C>T |
p.L786= |
Synonymous |
18/52 |
- |
1 |
12-6044375-G-C |
c.2358C>G |
p.L786= |
Synonymous |
18/52 |
- |
1 |
12-6044376-AG-GC |
c.2356_2357delinsGC |
p.L786A |
Missense |
18/52 |
- |
1 |
12-6044377-G-T |
c.2356C>A |
p.L786I |
Missense |
18/52 |
- |
1 |
12-6044379-C-T |
c.2354G>A |
p.G785E |
Missense |
18/52 |
- |
2 |
12-6044382-T-G |
c.2351A>C |
p.E784A |
Missense |
18/52 |
- |
1 |
12-6044383-C-T |
c.2350G>A |
p.E784K |
Missense |
18/52 |
- |
1 |
12-6044384-A-C |
c.2349T>G |
p.A783= |
Synonymous |
18/52 |
- |
1 |
12-6044384-A-G |
c.2349T>C |
p.A783= |
Synonymous |
18/52 |
- |
1 |
12-6044384-A-T |
c.2349T>A |
p.A783= |
Synonymous |
18/52 |
- |
1 |
12-6044386-C-A |
c.2347G>T |
p.A783S |
Missense |
18/52 |
- |
1 |
12-6044386-C-T |
c.2347G>A |
p.A783T |
Missense |
18/52 |
- |
1 |
12-6044387-CCG-ACA |
c.2344_2346delinsTGT |
p.R782C |
Missense |
18/52 |
- |
1 |
12-6044388-CG-GC |
c.2344_2345delinsGC |
p.R782A |
Missense |
18/52 |
- |
1 |
12-6044388-CG-TT |
c.2344_2345delinsAA |
p.R782K |
Missense |
18/52 |
- |
1 |
12-6044388-C-T |
c.2345G>A |
p.R782Q |
Missense |
18/52 |
- |
3 |
12-6044389-G-A |
c.2344C>T |
p.R782W |
Missense |
18/52 |
- |
10 |
12-6044390-C-A |
c.2343G>T |
p.L781= |
Synonymous |
18/52 |
- |
1 |
12-6044393-G-C |
c.2340C>G |
p.N780K |
Missense |
18/52 |
- |
3 |
12-6044398-C-A |
c.2335G>T |
p.D779Y |
Missense |
18/52 |
- |
2 |
12-6044399-A-C |
c.2334T>G |
p.A778= |
Synonymous |
18/52 |
- |
1 |
12-6044399-A-G |
c.2334T>C |
p.A778= |
Synonymous |
18/52 |
- |
1 |
12-6044399-A-T |
c.2334T>A |
p.A778= |
Synonymous |
18/52 |
- |
2 |
12-6044401-C-A |
c.2332G>T |
p.A778S |
Missense |
18/52 |
- |
1 |
12-6044401-C-T |
c.2332G>A |
p.A778T |
Missense |
18/52 |
- |
1 |
12-6044404-G-A |
c.2329C>T |
p.P777S |
Missense |
18/52 |
- |
1 |
12-6044405-GA-G |
c.2328del |
p.A778Lfs*23 |
Frameshift |
18/52 |
- |
1 |
12-6044411-C-A |
c.2322G>T |
p.L774= |
Synonymous |
18/52 |
- |
2 |
12-6044411-C-G |
c.2322G>C |
p.L774= |
Synonymous |
18/52 |
- |
2 |
12-6044411-C-T |
c.2322G>A |
p.L774= |
Synonymous |
18/52 |
- |
2 |
12-6044413-G-A |
c.2320C>T |
p.L774= |
Synonymous |
18/52 |
- |
2 |
12-6044414-C-T |
c.2319G>A |
p.K773= |
Synonymous |
18/52 |
- |
1 |
12-6044415-TT-GC |
c.2317_2318delinsGC |
p.K773A |
Missense |
18/52 |
- |
1 |
12-6044416-T-G |
c.2317A>C |
p.K773Q |
Missense |
18/52 |
- |
1 |
12-6044418-A-G |
c.2315T>C |
p.V772A |
Missense |
18/52 |
- |
1 |
12-6044419-C-T |
c.2314G>A |
p.V772I |
Missense |
18/52 |
- |
1 |
12-6044420-C-A |
c.2313G>T |
p.M771I |
Missense |
18/52 |
- |
4 |
12-6044420-C-G |
c.2313G>C |
p.M771I |
Missense |
18/52 |
- |
2 |
12-6044420-C-T |
c.2313G>A |
p.M771I |
Missense |
18/52 |
- |
2 |
12-6044421-A-G |
c.2312T>C |
p.M771T |
Missense |
18/52 |
- |
2 |
12-6044422-T-C |
c.2311A>G |
p.M771V |
Missense |
18/52 |
- |
1 |
12-6044425-G-A |
c.2308C>T |
p.P770S |
Missense |
18/52 |
- |
3 |
12-6044425-G-T |
c.2308C>A |
p.P770T |
Missense |
18/52 |
- |
1 |
12-6044426-G-A |
c.2307C>T |
p.P769= |
Synonymous |
18/52 |
- |
1 |
12-6044426-G-C |
c.2307C>G |
p.P769= |
Synonymous |
18/52 |
- |
1 |
12-6044426-G-T |
c.2307C>A |
p.P769= |
Synonymous |
18/52 |
- |
2 |
12-6044427-G-A |
c.2306C>T |
p.P769L |
Missense |
18/52 |
- |
5 |
12-6044422-T-TG |
c.2310dup |
p.M771Hfs*9 |
Frameshift |
18/52 |
- |
1 |
12-6044428-G-A |
c.2305C>T |
p.P769S |
Missense |
18/52 |
- |
1 |
12-6044428-G-T |
c.2305C>A |
p.P769T |
Missense |
18/52 |
- |
1 |
12-6044430-C-T |
c.2303G>A |
p.R768Q |
Missense |
18/52 |
- |
6 |
12-6044431-G-A |
c.2302C>T |
p.R768W |
Missense |
18/52 |
- |
1 |
12-6044433-C-T |
c.2300G>A |
p.C767Y |
Missense |
18/52 |
- |
1 |
12-6044435-G-A |
c.2298C>T |
p.S766= |
Synonymous |
18/52 |
- |
2 |
12-6044436-G-A |
c.2297C>T |
p.S766F |
Missense |
18/52 |
- |
1 |
12-6044436-GA-AG |
c.2296_2297delinsCT |
p.S766L |
Missense |
18/52 |
- |
1 |
12-6044440-G-C |
c.2293C>G |
p.L765V |
Missense |
18/52 |
- |
1 |
12-6044441-G-T |
c.2292C>A |
p.S764R |
Missense |
18/52 |
- |
1 |
12-6044442-C-T |
c.2291G>A |
p.S764N |
Missense |
18/52 |
- |
1 |
12-6044442-CT-GC |
c.2290_2291delinsGC |
p.S764A |
Missense |
18/52 |
- |
1 |
12-6044444-C-A |
c.2289G>T |
p.R763S |
Missense |
18/52 |
- |
5 |
12-6044444-CCT-ACA |
c.2287_2289delinsTGT |
p.R763C |
Missense |
18/52 |
- |
1 |
12-6044444-C-G |
c.2289G>C |
p.R763S |
Missense |
18/52 |
- |
2 |
12-6044443-T-TC |
c.2289dup |
p.S764Efs*16 |
Frameshift |
18/52 |
- |
1 |
12-6044445-C-A |
c.2288G>T |
p.R763M |
Missense |
18/52 |
- |
1 |
12-6044446-T-C |
c.2287A>G |
p.R763G |
Missense |
18/52 |
- |
9 |
12-6044451-C-T |
c.2282G>A |
p.S761N |
Missense |
18/52 |
- |
2 |
12-6044493-G-C |
c.2282-42C>G |
- |
IntronicSNV |
- |
17/51 |
11 |
12-6044493-G-T |
c.2282-42C>A |
- |
IntronicSNV |
- |
17/51 |
11 |
12-6044572-A-G |
c.2282-121T>C |
- |
IntronicSNV |
- |
17/51 |
2 |
12-6044573-C-T |
c.2282-122G>A |
- |
IntronicSNV |
- |
17/51 |
1 |
12-6044584-A-G |
c.2282-133T>C |
- |
IntronicSNV |
- |
17/51 |
5 |
12-6044584-A-T |
c.2282-133T>A |
- |
IntronicSNV |
- |
17/51 |
5 |
12-6044801-T-A |
c.2282-350A>T |
- |
IntronicSNV |
- |
17/51 |
2 |
12-6045040-T-C |
c.2282-589A>G |
- |
IntronicSNV |
- |
17/51 |
2 |
12-6046719-T-C |
c.2281+4A>G |
- |
IntronicSNV |
- |
17/51 |
1 |
12-6046724-G-A |
c.2280C>T |
p.R760= |
Synonymous |
17/52 |
- |
1 |
12-6046724-GC-TT |
c.2279_2280delinsAA |
p.R760Q |
Missense |
17/52 |
- |
1 |
12-6046725-C-A |
c.2279G>T |
p.R760L |
Missense |
17/52 |
- |
2 |
12-6046725-C-T |
c.2279G>A |
p.R760H |
Missense |
17/52 |
- |
7 |
12-6046726-G-A |
c.2278C>T |
p.R760C |
Missense |
17/52 |
- |
16 |
12-6046726-G-T |
c.2278C>A |
p.R760S |
Missense |
17/52 |
- |
1 |
12-6046731-G-A |
c.2273C>T |
p.S758F |
Missense |
17/52 |
- |
1 |
12-6046731-G-T |
c.2273C>A |
p.S758Y |
Missense |
17/52 |
- |
1 |
12-6046734-CAG-C |
c.2269_2270del |
p.L757Vfs*22 |
Frameshift |
17/52 |
- |
4 |
12-6046736-G-A |
c.2268C>T |
p.P756= |
Synonymous |
17/52 |
- |
2 |
12-6046736-G-C |
c.2268C>G |
p.P756= |
Synonymous |
17/52 |
- |
2 |
12-6046736-G-T |
c.2268C>A |
p.P756= |
Synonymous |
17/52 |
- |
2 |
12-6046737-G-A |
c.2267C>T |
p.P756L |
Missense |
17/52 |
- |
1 |
12-6046738-G-A |
c.2266C>T |
p.P756S |
Missense |
17/52 |
- |
2 |
12-6046743-CT-AA |
c.2260_2261delinsTT |
p.S754F |
Missense |
17/52 |
- |
2 |
12-6046745-G-A |
c.2259C>T |
p.L753= |
Synonymous |
17/52 |
- |
2 |
12-6046750-C-T |
c.2254G>A |
p.V752I |
Missense |
17/52 |
- |
2 |
12-6046752-G-A |
c.2252C>T |
p.A751V |
Missense |
17/52 |
- |
1 |
12-6046752-GC-CA |
c.2251_2252delinsTG |
p.A751C |
Missense |
17/52 |
- |
1 |
12-6046753-C-T |
c.2251G>A |
p.A751T |
Missense |
17/52 |
- |
2 |
12-6046756-C-G |
c.2248G>C |
p.D750H |
Missense |
17/52 |
- |
1 |
12-6046759-G-A |
c.2245C>T |
p.P749S |
Missense |
17/52 |
- |
1 |
12-6046764-AA-GG |
c.2239_2240delinsCC |
p.L747P |
Missense |
17/52 |
- |
1 |
12-6046773-G-A |
c.2231C>T |
p.P744L |
Missense |
17/52 |
- |
2 |
12-6046774-G-A |
c.2230C>T |
p.P744S |
Missense |
17/52 |
- |
1 |
12-6046777-C-G |
c.2227G>C |
p.V743L |
Missense |
17/52 |
- |
1 |
12-6046780-C-T |
c.2224G>A |
p.G742R |
Missense |
17/52 |
- |
5 |
12-6046782-CT-AA |
c.2221_2222delinsTT |
p.S741F |
Missense |
17/52 |
- |
1 |
12-6046784-C-A |
c.2220G>T |
p.M740I |
Missense |
17/52 |
- |
15 |
12-6046784-CAT-ATG |
c.2218_2220inv |
p.M740H |
Missense |
17/52 |
- |
1 |
12-6046784-C-G |
c.2220G>C |
p.M740I |
Missense |
17/52 |
- |
15 |
12-6046784-C-T |
c.2220G>A |
p.M740I |
Missense |
17/52 |
- |
26 |
12-6046785-A-G |
c.2219T>C |
p.M740T |
Missense |
17/52 |
- |
1 |
12-6046788-GT-CC |
c.2215_2216delinsGG |
p.T739G |
Missense |
17/52 |
- |
1 |
12-6046793-G-A |
c.2211C>T |
p.H737= |
Synonymous |
17/52 |
- |
1 |
12-6046793-G-C |
c.2211C>G |
p.H737Q |
Missense |
17/52 |
- |
1 |
12-6046793-G-T |
c.2211C>A |
p.H737Q |
Missense |
17/52 |
- |
1 |
12-6046794-T-C |
c.2210A>G |
p.H737R |
Missense |
17/52 |
- |
3 |
12-6046794-TG-GC |
c.2209_2210delinsGC |
p.H737A |
Missense |
17/52 |
- |
2 |
12-6046796-C-A |
c.2208G>T |
p.M736I |
Missense |
17/52 |
- |
1 |
12-6046796-C-T |
c.2208G>A |
p.M736I |
Missense |
17/52 |
- |
1 |
12-6046797-A-T |
c.2207T>A |
p.M736K |
Missense |
17/52 |
- |
1 |
12-6046798-T-A |
c.2206A>T |
p.M736L |
Missense |
17/52 |
- |
1 |
12-6046798-T-G |
c.2206A>C |
p.M736L |
Missense |
17/52 |
- |
2 |
12-6046799-G-C |
c.2205C>G |
p.F735L |
Missense |
17/52 |
- |
1 |
12-6046799-G-T |
c.2205C>A |
p.F735L |
Missense |
17/52 |
- |
1 |
12-6046801-A-G |
c.2203T>C |
p.F735L |
Missense |
17/52 |
- |
2 |
12-6046803-C-G |
c.2201G>C |
p.G734A |
Missense |
17/52 |
- |
1 |
12-6046805-A-G |
c.2199T>C |
p.D733= |
Synonymous |
17/52 |
- |
1 |
12-6046807-C-T |
c.2197G>A |
p.D733N |
Missense |
17/52 |
- |
1 |
12-6046810-C-T |
c.2194G>A |
p.E732K |
Missense |
17/52 |
- |
3 |
12-6046817-G-A |
c.2187C>T |
p.C729= |
Synonymous |
17/52 |
- |
1 |
12-6046817-G-T |
c.2187C>A |
p.C729* |
Nonsense |
17/52 |
- |
1 |
12-6047311-C-A |
c.2187-494G>T |
- |
IntronicSNV |
- |
16/51 |
2 |
12-6047311-C-T |
c.2187-494G>A |
- |
IntronicSNV |
- |
16/51 |
2 |
12-6047469-A-G |
c.2187-652T>C |
- |
IntronicSNV |
- |
16/51 |
2 |
12-6047469-A-T |
c.2187-652T>A |
- |
IntronicSNV |
- |
16/51 |
2 |
12-6048228-T-C |
c.2187-1411A>G |
- |
IntronicSNV |
- |
16/51 |
1 |
12-6048822-A-G |
c.2187-2005T>C |
- |
IntronicSNV |
- |
16/51 |
1 |
12-6049879-C-T |
c.2186+2664G>A |
- |
IntronicSNV |
- |
16/51 |
1 |
12-6050980-T-A |
c.2186+1563A>T |
- |
IntronicSNV |
- |
16/51 |
1 |
12-6050980-T-C |
c.2186+1563A>G |
- |
IntronicSNV |
- |
16/51 |
1 |
12-6051448-C-T |
c.2186+1095G>A |
- |
IntronicSNV |
- |
16/51 |
3 |
12-6052544-A-G |
c.2185T>C |
p.C729R |
Missense |
16/52 |
- |
1 |
12-6052547-T-C |
c.2182A>G |
p.M728V |
Missense |
16/52 |
- |
2 |
12-6052548-G-A |
c.2181C>T |
p.T727= |
Synonymous |
16/52 |
- |
1 |
12-6052548-G-C |
c.2181C>G |
p.T727= |
Synonymous |
16/52 |
- |
1 |
12-6052548-G-T |
c.2181C>A |
p.T727= |
Synonymous |
16/52 |
- |
1 |
12-6052549-GT-CA |
c.2179_2180delinsTG |
p.T727C |
Missense |
16/52 |
- |
1 |
12-6052554-A-C |
c.2175T>G |
p.H725Q |
Missense |
16/52 |
- |
1 |
12-6052554-A-T |
c.2175T>A |
p.H725Q |
Missense |
16/52 |
- |
1 |
12-6052555-T-C |
c.2174A>G |
p.H725R |
Missense |
16/52 |
- |
1 |
12-6052555-TG-GC |
c.2173_2174delinsGC |
p.H725A |
Missense |
16/52 |
- |
1 |
12-6052559-C-A |
c.2170G>T |
p.D724Y |
Missense |
16/52 |
- |
1 |
12-6052561-G-A |
c.2168C>T |
p.S723L |
Missense |
16/52 |
- |
6 |
12-6052561-G-C |
c.2168C>G |
p.S723* |
Nonsense |
16/52 |
- |
1 |
12-6052561-G-T |
c.2168C>A |
p.S723* |
Nonsense |
16/52 |
- |
1 |
12-6052563-G-A |
c.2166C>T |
p.F722= |
Synonymous |
16/52 |
- |
1 |
12-6052571-C-T |
c.2158G>A |
p.D720N |
Missense |
16/52 |
- |
2 |
12-6052572-T-C |
c.2157A>G |
p.E719= |
Synonymous |
16/52 |
- |
1 |
12-6052571-CT-C |
c.2157del |
p.D720Tfs*21 |
Frameshift |
16/52 |
- |
1 |
12-6052574-C-T |
c.2155G>A |
p.E719K |
Missense |
16/52 |
- |
5 |
12-6052576-G-A |
c.2153C>T |
p.P718L |
Missense |
16/52 |
- |
1 |
12-6052576-GG-CC |
c.2152_2153inv |
p.P718G |
Missense |
16/52 |
- |
1 |
12-6052577-G-A |
c.2152C>T |
p.P718S |
Missense |
16/52 |
- |
1 |
12-6052584-G-A |
c.2145C>T |
p.I715= |
Synonymous |
16/52 |
- |
1 |
12-6052584-G-C |
c.2145C>G |
p.I715M |
Missense |
16/52 |
- |
3 |
12-6052584-G-T |
c.2145C>A |
p.I715= |
Synonymous |
16/52 |
- |
1 |
12-6052585-A-T |
c.2144T>A |
p.I715N |
Missense |
16/52 |
- |
2 |
12-6052587-C-T |
c.2142G>A |
p.E714= |
Synonymous |
16/52 |
- |
2 |
12-6052588-T-C |
c.2141A>G |
p.E714G |
Missense |
16/52 |
- |
1 |
12-6052590-A-C |
c.2139T>G |
p.G713= |
Synonymous |
16/52 |
- |
1 |
12-6052591-C-T |
c.2138G>A |
p.G713D |
Missense |
16/52 |
- |
2 |
12-6052592-C-A |
c.2137G>T |
p.G713C |
Missense |
16/52 |
- |
1 |
12-6052592-C-T |
c.2137G>A |
p.G713S |
Missense |
16/52 |
- |
7 |
12-6052596-A-T |
c.2133T>A |
p.Y711* |
Nonsense |
16/52 |
- |
2 |
12-6052603-CA-GT |
c.2125_2126delinsAC |
p.C709T |
Missense |
16/52 |
- |
1 |
12-6052603-C-T |
c.2126G>A |
p.C709Y |
Missense |
16/52 |
- |
1 |
12-6052607-G-A |
c.2122C>T |
p.P708S |
Missense |
16/52 |
- |
1 |
12-6052610-A-G |
c.2119T>C |
p.C707R |
Missense |
16/52 |
- |
1 |
12-6052613-G-A |
c.2116C>T |
p.Q706* |
Nonsense |
16/52 |
- |
1 |
12-6052614-G-T |
c.2115C>A |
p.A705= |
Synonymous |
16/52 |
- |
1 |
12-6052615-G-T |
c.2114C>A |
p.A705D |
Missense |
16/52 |
- |
1 |
12-6052616-C-A |
c.2113G>T |
p.A705S |
Missense |
16/52 |
- |
1 |
12-6052618-T-A |
c.2111A>T |
p.K704M |
Missense |
16/52 |
- |
1 |
12-6052620-G-GCA |
c.2108_2109insTG |
p.K704Afs*38 |
Frameshift |
16/52 |
- |
1 |
12-6052621-G-A |
c.2108C>T |
p.P703L |
Missense |
16/52 |
- |
3 |
12-6052621-G-C |
c.2108C>G |
p.P703R |
Missense |
16/52 |
- |
2 |
12-6052622-G-T |
c.2107C>A |
p.P703T |
Missense |
16/52 |
- |
1 |
12-6052623-C-A |
c.2106G>T |
p.V702= |
Synonymous |
16/52 |
- |
1 |
12-6052625-C-T |
c.2104G>A |
p.V702M |
Missense |
16/52 |
- |
5 |
12-6052626-G-A |
c.2103C>T |
p.C701= |
Synonymous |
16/52 |
- |
2 |
12-6052626-G-C |
c.2103C>G |
p.C701W |
Missense |
16/52 |
- |
1 |
12-6052627-CA-GT |
c.2101_2102delinsAC |
p.C701T |
Missense |
16/52 |
- |
1 |
12-6052631-C-A |
c.2098G>T |
p.D700Y |
Missense |
16/52 |
- |
1 |
12-6052631-C-CA |
c.2097_2098insT |
p.D700* |
Nonsense |
16/52 |
- |
1 |
12-6052631-C-G |
c.2098G>C |
p.D700H |
Missense |
16/52 |
- |
2 |
12-6052632-C-A |
c.2097G>T |
p.G699= |
Synonymous |
16/52 |
- |
1 |
12-6052632-C-T |
c.2097G>A |
p.G699= |
Synonymous |
16/52 |
- |
2 |
12-6052633-C-G |
c.2096G>C |
p.G699A |
Missense |
16/52 |
- |
1 |
12-6052633-C-T |
c.2096G>A |
p.G699E |
Missense |
16/52 |
- |
2 |
12-6052634-C-G |
c.2095G>C |
p.G699R |
Missense |
16/52 |
- |
1 |
12-6052634-C-T |
c.2095G>A |
p.G699R |
Missense |
16/52 |
- |
1 |
12-6052635-C-A |
c.2094G>T |
p.R698S |
Missense |
16/52 |
- |
1 |
12-6052635-C-G |
c.2094G>C |
p.R698S |
Missense |
16/52 |
- |
1 |
12-6052635-C-T |
c.2094G>A |
p.R698= |
Synonymous |
16/52 |
- |
2 |
12-6052630-TC-T |
c.2098del |
p.D700Tfs*41 |
Frameshift |
16/52 |
- |
1 |
12-6052636-C-T |
c.2093G>A |
p.R698K |
Missense |
16/52 |
- |
7 |
12-6052636-CT-AG |
c.2092_2093inv |
p.R698L |
Missense |
16/52 |
- |
1 |
12-6052637-T-A |
c.2092A>T |
p.R698W |
Missense |
16/52 |
- |
1 |
12-6052638-C-T |
c.2091G>A |
p.E697= |
Synonymous |
16/52 |
- |
1 |
12-6052639-T-A |
c.2090A>T |
p.E697V |
Missense |
16/52 |
- |
1 |
12-6052642-T-A |
c.2087A>T |
p.D696V |
Missense |
16/52 |
- |
1 |
12-6052643-C-A |
c.2086G>T |
p.D696Y |
Missense |
16/52 |
- |
1 |
12-6052643-C-T |
c.2086G>A |
p.D696N |
Missense |
16/52 |
- |
2 |
12-6052644-C-A |
c.2085G>T |
p.M695I |
Missense |
16/52 |
- |
2 |
12-6052644-C-G |
c.2085G>C |
p.M695I |
Missense |
16/52 |
- |
2 |
12-6052644-C-T |
c.2085G>A |
p.M695I |
Missense |
16/52 |
- |
7 |
12-6052648-T-A |
c.2081A>T |
p.Y694F |
Missense |
16/52 |
- |
1 |
12-6052652-G-A |
c.2077C>T |
p.L693F |
Missense |
16/52 |
- |
1 |
12-6052653-C-A |
c.2076G>T |
p.G692= |
Synonymous |
16/52 |
- |
2 |
12-6052655-C-T |
c.2074G>A |
p.G692R |
Missense |
16/52 |
- |
1 |
12-6052657-GG-C |
c.2071_2072delinsG |
p.P691Efs*50 |
Frameshift |
16/52 |
- |
1 |
12-6052658-G-A |
c.2071C>T |
p.P691S |
Missense |
16/52 |
- |
1 |
12-6052658-G-T |
c.2071C>A |
p.P691T |
Missense |
16/52 |
- |
4 |
12-6052659-G-A |
c.2070C>T |
p.P690= |
Synonymous |
16/52 |
- |
1 |
12-6052659-G-C |
c.2070C>G |
p.P690= |
Synonymous |
16/52 |
- |
1 |
12-6052659-G-T |
c.2070C>A |
p.P690= |
Synonymous |
16/52 |
- |
1 |
12-6052660-G-A |
c.2069C>T |
p.P690L |
Missense |
16/52 |
- |
2 |
12-6052661-G-A |
c.2068C>T |
p.P690S |
Missense |
16/52 |
- |
4 |
12-6052656-TG-T |
c.2072del |
p.P691Qfs*50 |
Frameshift |
16/52 |
- |
1 |
12-6052656-T-TG |
c.2072dup |
p.G692Rfs*6 |
Frameshift |
16/52 |
- |
1 |
12-6052662-G-T |
c.2067C>A |
p.C689* |
Nonsense |
16/52 |
- |
1 |
12-6052663-C-T |
c.2066G>A |
p.C689Y |
Missense |
16/52 |
- |
1 |
12-6052664-A-T |
c.2065T>A |
p.C689S |
Missense |
16/52 |
- |
2 |
12-6052665-G-A |
c.2064C>T |
p.F688= |
Synonymous |
16/52 |
- |
2 |
12-6052665-G-T |
c.2064C>A |
p.F688L |
Missense |
16/52 |
- |
1 |
12-6052666-A-C |
c.2063T>G |
p.F688C |
Missense |
16/52 |
- |
1 |
12-6052667-A-C |
c.2062T>G |
p.F688V |
Missense |
16/52 |
- |
1 |
12-6052667-A-T |
c.2062T>A |
p.F688I |
Missense |
16/52 |
- |
1 |
12-6052668-G-T |
c.2061C>A |
p.C687* |
Nonsense |
16/52 |
- |
1 |
12-6052669-C-T |
c.2060G>A |
p.C687Y |
Missense |
16/52 |
- |
2 |
12-6052670-A-T |
c.2059T>A |
p.C687S |
Missense |
16/52 |
- |
2 |
12-6052675-T-C |
c.2054A>G |
p.E685G |
Missense |
16/52 |
- |
2 |
12-6052678-A-G |
c.2051T>C |
p.L684P |
Missense |
16/52 |
- |
1 |
12-6052680-G-C |
c.2049C>G |
p.C683W |
Missense |
16/52 |
- |
1 |
12-6052681-CA-GC |
c.2047_2048delinsGC |
p.C683A |
Missense |
16/52 |
- |
1 |
12-6052683-G-T |
c.2046C>A |
p.A682= |
Synonymous |
16/52 |
- |
1 |
12-6052686-C-T |
c.2043G>A |
p.E681= |
Synonymous |
16/52 |
- |
2 |
12-6052688-C-T |
c.2041G>A |
p.E681K |
Missense |
16/52 |
- |
2 |
12-6052690-T-C |
c.2039A>G |
p.N680S |
Missense |
16/52 |
- |
1 |
12-6052692-G-C |
c.2037C>G |
p.C679W |
Missense |
16/52 |
- |
1 |
12-6052692-G-T |
c.2037C>A |
p.C679* |
Nonsense |
16/52 |
- |
3 |
12-6052696-T-A |
c.2033A>T |
p.E678V |
Missense |
16/52 |
- |
1 |
12-6052697-C-T |
c.2032G>A |
p.E678K |
Missense |
16/52 |
- |
3 |
12-6052700-C-T |
c.2029G>A |
p.E677K |
Missense |
16/52 |
- |
1 |
12-6052701-A-G |
c.2028T>C |
p.D676= |
Synonymous |
16/52 |
- |
1 |
12-6052702-T-C |
c.2027A>G |
p.D676G |
Missense |
16/52 |
- |
1 |
12-6052703-C-T |
c.2026G>A |
p.D676N |
Missense |
16/52 |
- |
3 |
12-6052704-C-A |
c.2025G>T |
p.P675= |
Synonymous |
16/52 |
- |
3 |
12-6052704-C-G |
c.2025G>C |
p.P675= |
Synonymous |
16/52 |
- |
2 |
12-6052704-C-T |
c.2025G>A |
p.P675= |
Synonymous |
16/52 |
- |
5 |
12-6052705-G-A |
c.2024C>T |
p.P675L |
Missense |
16/52 |
- |
2 |
12-6052706-G-C |
c.2023C>G |
p.P675A |
Missense |
16/52 |
- |
1 |
12-6052706-GGTAAGA-G |
c.2017_2022del |
p.S673_Y674del |
InFrameDeletion |
16/52 |
- |
1 |
12-6052708-GTA-G |
c.2020_2021del |
p.Y674Pfs*3 |
Frameshift |
16/52 |
- |
1 |
12-6052709-TAA-T |
c.2019_2020del |
p.Y674Pfs*3 |
Frameshift |
16/52 |
- |
1 |
12-6052711-G-C |
c.2018C>G |
p.S673C |
Missense |
16/52 |
- |
1 |
12-6052713-G-A |
c.2016C>T |
p.L672= |
Synonymous |
16/52 |
- |
2 |
12-6052717-G-C |
c.2012C>G |
p.S671C |
Missense |
16/52 |
- |
1 |
12-6052709-AAG-A |
c.2018_2019del |
p.S673Lfs*4 |
Frameshift |
16/52 |
- |
1 |
12-6052720-C-T |
c.2009G>A |
p.R670H |
Missense |
16/52 |
- |
7 |
12-6052721-G-A |
c.2008C>T |
p.R670C |
Missense |
16/52 |
- |
4 |
12-6052722-G-A |
c.2007C>T |
p.C669= |
Synonymous |
16/52 |
- |
1 |
12-6052727-T-G |
c.2002A>C |
p.T668P |
Missense |
16/52 |
- |
2 |
12-6052730-G-A |
c.1999C>T |
p.L667= |
Synonymous |
16/52 |
- |
1 |
12-6052734-G-A |
c.1995C>T |
p.C665= |
Synonymous |
16/52 |
- |
1 |
12-6052736-A-C |
c.1993T>G |
p.C665G |
Missense |
16/52 |
- |
1 |
12-6052738-G-A |
c.1991C>T |
p.P664L |
Missense |
16/52 |
- |
2 |
12-6052736-A-AG |
c.1992dup |
p.C665Lfs*13 |
Frameshift |
16/52 |
- |
1 |
12-6052743-CCC-ACA |
c.1984_1986delinsTGT |
p.G662C |
Missense |
16/52 |
- |
1 |
12-6052744-CC-GT |
c.1984_1985delinsAC |
p.G662T |
Missense |
16/52 |
- |
1 |
12-6052745-C-T |
c.1984G>A |
p.G662R |
Missense |
16/52 |
- |
3 |
12-6052746-G-A |
c.1983C>T |
p.C661= |
Synonymous |
16/52 |
- |
2 |
12-6052747-CA-GC |
c.1981_1982delinsGC |
p.C661A |
Missense |
16/52 |
- |
1 |
12-6052747-CA-GT |
c.1981_1982delinsAC |
p.C661T |
Missense |
16/52 |
- |
1 |
12-6052748-A-C |
c.1981T>G |
p.C661G |
Missense |
16/52 |
- |
1 |
12-6052748-A-G |
c.1981T>C |
p.C661R |
Missense |
16/52 |
- |
1 |
12-6052749-C-A |
c.1980G>T |
p.Q660H |
Missense |
16/52 |
- |
1 |
12-6052749-C-G |
c.1980G>C |
p.Q660H |
Missense |
16/52 |
- |
1 |
12-6052755-G-C |
c.1974C>G |
p.Y658* |
Nonsense |
16/52 |
- |
1 |
12-6052756-T-C |
c.1973A>G |
p.Y658C |
Missense |
16/52 |
- |
1 |
12-6052758-C-A |
c.1971G>T |
p.V657= |
Synonymous |
16/52 |
- |
1 |
12-6052758-C-G |
c.1971G>C |
p.V657= |
Synonymous |
16/52 |
- |
1 |
12-6052758-C-T |
c.1971G>A |
p.V657= |
Synonymous |
16/52 |
- |
3 |
12-6052762-T-A |
c.1967A>T |
p.Q656L |
Missense |
16/52 |
- |
2 |
12-6052763-G-A |
c.1966C>T |
p.Q656* |
Nonsense |
16/52 |
- |
1 |
12-6052763-G-C |
c.1966C>G |
p.Q656E |
Missense |
16/52 |
- |
1 |
12-6052764-G-A |
c.1965C>T |
p.G655= |
Synonymous |
16/52 |
- |
2 |
12-6052764-G-C |
c.1965C>G |
p.G655= |
Synonymous |
16/52 |
- |
1 |
12-6052764-GC-CT |
c.1964_1965delinsAG |
p.G655E |
Missense |
16/52 |
- |
1 |
12-6052764-G-T |
c.1965C>A |
p.G655= |
Synonymous |
16/52 |
- |
1 |
12-6052765-C-T |
c.1964G>A |
p.G655D |
Missense |
16/52 |
- |
1 |
12-6052766-C-G |
c.1963G>C |
p.G655R |
Missense |
16/52 |
- |
2 |
12-6052768-T-G |
c.1961A>C |
p.K654T |
Missense |
16/52 |
- |
1 |
12-6052770-C-A |
c.1959G>T |
p.P653= |
Synonymous |
16/52 |
- |
1 |
12-6052770-C-G |
c.1959G>C |
p.P653= |
Synonymous |
16/52 |
- |
1 |
12-6052770-C-T |
c.1959G>A |
p.P653= |
Synonymous |
16/52 |
- |
3 |
12-6052771-G-A |
c.1958C>T |
p.P653L |
Missense |
16/52 |
- |
3 |
12-6052772-G-A |
c.1957C>T |
p.P653S |
Missense |
16/52 |
- |
1 |
12-6052772-G-T |
c.1957C>A |
p.P653T |
Missense |
16/52 |
- |
1 |
12-6052775-A-C |
c.1954T>G |
p.C652G |
Missense |
16/52 |
- |
1 |
12-6052776-G-A |
c.1953C>T |
p.N651= |
Synonymous |
16/52 |
- |
1 |
12-6052779-C-A |
c.1950G>T |
p.L650= |
Synonymous |
16/52 |
- |
1 |
12-6052779-C-G |
c.1950G>C |
p.L650= |
Synonymous |
16/52 |
- |
1 |
12-6052779-C-T |
c.1950G>A |
p.L650= |
Synonymous |
16/52 |
- |
1 |
12-6052781-G-A |
c.1948C>T |
p.L650= |
Synonymous |
16/52 |
- |
1 |
12-6052780-A-G |
c.1949T>C |
p.L650P |
Missense |
16/52 |
- |
1 |
12-6052797-G-A |
c.1946-14C>T |
- |
IntronicSNV |
- |
15/51 |
3 |
12-6052797-G-GA |
c.1946-15dup |
- |
IntronicInsertion |
- |
15/51 |
4 |
12-6052797-G-GACA |
c.1946-15_1946-14insTGT |
- |
IntronicInsertion |
- |
15/51 |
4 |
12-6052797-G-GAGA |
c.1946-17_1946-15dup |
- |
IntronicInsertion |
- |
15/51 |
5 |
12-6052801-A-AAAG |
c.1946-19_1946-18insCTT |
- |
IntronicInsertion |
- |
15/51 |
1 |
12-6052800-A-AAGT |
c.1946-20_1946-18dup |
- |
IntronicInsertion |
- |
15/51 |
1 |
12-6052803-T-A |
c.1946-20A>T |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6052815-G-A |
c.1946-32C>T |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6052815-G-T |
c.1946-32C>A |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6053495-G-A |
c.1946-712C>T |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6053495-G-C |
c.1946-712C>G |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6053588-A-G |
c.1946-805T>C |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6053686-T-C |
c.1946-903A>G |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6053686-T-G |
c.1946-903A>C |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6055289-C-G |
c.1945+1568G>C |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6055289-C-T |
c.1945+1568G>A |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6056809-C-T |
c.1945+48G>A |
- |
IntronicSNV |
- |
15/51 |
1 |
12-6056833-G-A |
c.1945+24C>T |
- |
IntronicSNV |
- |
15/51 |
2 |
12-6056857-C-T |
c.1945G>A |
p.E649K |
Missense |
15/52 |
- |
1 |
12-6056859-CA-GC |
c.1942_1943delinsGC |
p.C648A |
Missense |
15/52 |
- |
1 |
12-6056861-G-C |
c.1941C>G |
p.R647= |
Synonymous |
15/52 |
- |
1 |
12-6056864-G-A |
c.1938C>T |
p.G646= |
Synonymous |
15/52 |
- |
1 |
12-6056864-G-C |
c.1938C>G |
p.G646= |
Synonymous |
15/52 |
- |
1 |
12-6056864-G-T |
c.1938C>A |
p.G646= |
Synonymous |
15/52 |
- |
1 |
12-6056865-C-G |
c.1937G>C |
p.G646A |
Missense |
15/52 |
- |
1 |
12-6056866-C-A |
c.1936G>T |
p.G646C |
Missense |
15/52 |
- |
1 |
12-6056866-C-G |
c.1936G>C |
p.G646R |
Missense |
15/52 |
- |
1 |
12-6056869-G-A |
c.1933C>T |
p.P645S |
Missense |
15/52 |
- |
1 |
12-6056872-C-A |
c.1930G>T |
p.E644* |
Nonsense |
15/52 |
- |
1 |
12-6056873-GCG-TCA |
c.1927_1929delinsTGA |
p.R643* |
Nonsense |
15/52 |
- |
1 |
12-6056874-C-T |
c.1928G>A |
p.R643H |
Missense |
15/52 |
- |
2 |
12-6056876-C-T |
c.1926G>A |
p.W642* |
Nonsense |
15/52 |
- |
1 |
12-6056878-A-G |
c.1924T>C |
p.W642R |
Missense |
15/52 |
- |
1 |
12-6056880-G-A |
c.1922C>T |
p.A641V |
Missense |
15/52 |
- |
3 |
12-6056884-C-G |
c.1918G>C |
p.V640L |
Missense |
15/52 |
- |
1 |
12-6056884-C-T |
c.1918G>A |
p.V640I |
Missense |
15/52 |
- |
1 |
12-6056886-C-T |
c.1916G>A |
p.R639H |
Missense |
15/52 |
- |
1 |
12-6056887-G-C |
c.1915C>G |
p.R639G |
Missense |
15/52 |
- |
1 |
12-6056889-A-T |
c.1913T>A |
p.V638E |
Missense |
15/52 |
- |
1 |
12-6056890-C-T |
c.1912G>A |
p.V638M |
Missense |
15/52 |
- |
1 |
12-6056891-G-A |
c.1911C>T |
p.G637= |
Synonymous |
15/52 |
- |
1 |
12-6056891-G-C |
c.1911C>G |
p.G637= |
Synonymous |
15/52 |
- |
1 |
12-6056891-G-T |
c.1911C>A |
p.G637= |
Synonymous |
15/52 |
- |
1 |
12-6056893-C-G |
c.1909G>C |
p.G637R |
Missense |
15/52 |
- |
1 |
12-6056894-TCT-ACA |
c.1906_1908delinsTGT |
p.R636C |
Missense |
15/52 |
- |
1 |
12-6056894-TCT-ATG |
c.1906_1908delinsCAT |
p.R636H |
Missense |
15/52 |
- |
1 |
12-6056901-G-A |
c.1901C>T |
p.A634V |
Missense |
15/52 |
- |
1 |
12-6056901-G-C |
c.1901C>G |
p.A634G |
Missense |
15/52 |
- |
1 |
12-6056903-G-A |
c.1899C>T |
p.C633= |
Synonymous |
15/52 |
- |
1 |
12-6056904-C-T |
c.1898G>A |
p.C633Y |
Missense |
15/52 |
- |
1 |
12-6056905-A-G |
c.1897T>C |
p.C633R |
Missense |
15/52 |
- |
3 |
12-6056906-G-A |
c.1896C>T |
p.A632= |
Synonymous |
15/52 |
- |
1 |
12-6056906-G-C |
c.1896C>G |
p.A632= |
Synonymous |
15/52 |
- |
1 |
12-6056906-G-T |
c.1896C>A |
p.A632= |
Synonymous |
15/52 |
- |
1 |
12-6056907-G-A |
c.1895C>T |
p.A632V |
Missense |
15/52 |
- |
1 |
12-6056910-G-A |
c.1892C>T |
p.A631V |
Missense |
15/52 |
- |
8 |
12-6056910-GC-CT |
c.1891_1892delinsAG |
p.A631R |
Missense |
15/52 |
- |
1 |
12-6056915-A-G |
c.1887T>C |
p.Y629= |
Synonymous |
15/52 |
- |
1 |
12-6056916-T-C |
c.1886A>G |
p.Y629C |
Missense |
15/52 |
- |
1 |
12-6056916-T-G |
c.1886A>C |
p.Y629S |
Missense |
15/52 |
- |
1 |
12-6056917-TA-T |
c.1885del |
p.Y629Mfs*22 |
Frameshift |
15/52 |
- |
1 |
12-6056922-G-C |
c.1880C>G |
p.A627G |
Missense |
15/52 |
- |
1 |
12-6056923-C-A |
c.1879G>T |
p.A627S |
Missense |
15/52 |
- |
3 |
12-6056928-G-C |
c.1874C>G |
p.A625G |
Missense |
15/52 |
- |
1 |
12-6056931-C-A |
c.1871G>T |
p.G624V |
Missense |
15/52 |
- |
1 |
12-6056932-C-G |
c.1870G>C |
p.G624R |
Missense |
15/52 |
- |
1 |
12-6056932-C-T |
c.1870G>A |
p.G624S |
Missense |
15/52 |
- |
4 |
12-6056933-G-C |
c.1869C>G |
p.C623W |
Missense |
15/52 |
- |
1 |
12-6056934-CA-GT |
c.1867_1868delinsAC |
p.C623T |
Missense |
15/52 |
- |
1 |
12-6056937-A-G |
c.1865T>C |
p.L622P |
Missense |
15/52 |
- |
3 |
12-6056937-AG-A |
c.1864del |
p.L622Cfs*29 |
Frameshift |
15/52 |
- |
1 |
12-6056939-G-T |
c.1863C>A |
p.C621* |
Nonsense |
15/52 |
- |
1 |
12-6056942-C-A |
c.1860G>T |
p.E620D |
Missense |
15/52 |
- |
1 |
12-6056944-C-T |
c.1858G>A |
p.E620K |
Missense |
15/52 |
- |
1 |
12-6056945-GCG-TCA |
c.1855_1857delinsTGA |
p.R619* |
Nonsense |
15/52 |
- |
1 |
12-6056945-GC-TT |
c.1856_1857delinsAA |
p.R619Q |
Missense |
15/52 |
- |
1 |
12-6056946-C-G |
c.1856G>C |
p.R619P |
Missense |
15/52 |
- |
1 |
12-6056947-G-A |
c.1855C>T |
p.R619C |
Missense |
15/52 |
- |
1 |
12-6056949-C-T |
c.1853G>A |
p.G618D |
Missense |
15/52 |
- |
1 |
12-6056950-C-T |
c.1852G>A |
p.G618S |
Missense |
15/52 |
- |
1 |
12-6056954-C-A |
c.1848G>T |
p.S616= |
Synonymous |
15/52 |
- |
1 |
12-6056954-C-G |
c.1848G>C |
p.S616= |
Synonymous |
15/52 |
- |
1 |
12-6056954-CGA-GTC |
c.1846_1848delinsGAC |
p.S616D |
Missense |
15/52 |
- |
1 |
12-6056954-C-T |
c.1848G>A |
p.S616= |
Synonymous |
15/52 |
- |
1 |
12-6056955-G-A |
c.1847C>T |
p.S616L |
Missense |
15/52 |
- |
1 |
12-6056956-A-C |
c.1846T>G |
p.S616A |
Missense |
15/52 |
- |
1 |
12-6056958-C-CA |
c.1843dup |
p.C615Lfs*35 |
Frameshift |
15/52 |
- |
1 |
12-6056964-C-G |
c.1838G>C |
p.C613S |
Missense |
15/52 |
- |
1 |
12-6056965-A-T |
c.1837T>A |
p.C613S |
Missense |
15/52 |
- |
1 |
12-6056968-C-A |
c.1834G>T |
p.V612L |
Missense |
15/52 |
- |
1 |
12-6056968-C-G |
c.1834G>C |
p.V612L |
Missense |
15/52 |
- |
1 |
12-6056971-C-T |
c.1831G>A |
p.D611N |
Missense |
15/52 |
- |
3 |
12-6056972-G-A |
c.1830C>T |
p.Y610= |
Synonymous |
15/52 |
- |
1 |
12-6056972-G-T |
c.1830C>A |
p.Y610* |
Nonsense |
15/52 |
- |
1 |
12-6056975-GCG-TCA |
c.1825_1827delinsTGA |
p.R609* |
Nonsense |
15/52 |
- |
1 |
12-6056979-CA-GT |
c.1822_1823delinsAC |
p.C608T |
Missense |
15/52 |
- |
1 |
12-6056984-CCG-ACA |
c.1816_1818delinsTGT |
p.R606C |
Missense |
15/52 |
- |
1 |
12-6056985-C-T |
c.1817G>A |
p.R606Q |
Missense |
15/52 |
- |
3 |
12-6056987-C-T |
c.1815G>A |
p.L605= |
Synonymous |
15/52 |
- |
1 |
12-6056987-GC-G |
c.1815del |
p.R606Gfs*45 |
Frameshift |
15/52 |
- |
1 |
12-6056990-G-T |
c.1812C>A |
p.Y604* |
Nonsense |
15/52 |
- |
1 |
12-6056999-C-A |
c.1803G>T |
p.P601= |
Synonymous |
15/52 |
- |
1 |
12-6056999-C-G |
c.1803G>C |
p.P601= |
Synonymous |
15/52 |
- |
1 |
12-6056999-C-T |
c.1803G>A |
p.P601= |
Synonymous |
15/52 |
- |
1 |
12-6057001-G-T |
c.1801C>A |
p.P601T |
Missense |
15/52 |
- |
1 |
12-6057007-C-A |
c.1795G>T |
p.V599F |
Missense |
15/52 |
- |
1 |
12-6057007-C-T |
c.1795G>A |
p.V599I |
Missense |
15/52 |
- |
5 |
12-6057009-G-A |
c.1793C>T |
p.A598V |
Missense |
15/52 |
- |
1 |
12-6057011-ACG-CCA |
c.1789_1791delinsTGG |
p.R597W |
Missense |
15/52 |
- |
1 |
12-6057011-ACG-TCA |
c.1789_1791delinsTGA |
p.R597* |
Nonsense |
15/52 |
- |
1 |
12-6057015-T-A |
c.1787A>T |
p.H596L |
Missense |
15/52 |
- |
1 |
12-6057015-T-C |
c.1787A>G |
p.H596R |
Missense |
15/52 |
- |
2 |
12-6057015-TG-GC |
c.1786_1787delinsGC |
p.H596A |
Missense |
15/52 |
- |
2 |
12-6057017-G-A |
c.1785C>T |
p.C595= |
Synonymous |
15/52 |
- |
1 |
12-6057021-G-C |
c.1781C>G |
p.A594G |
Missense |
15/52 |
- |
5 |
12-6057026-G-A |
c.1776C>T |
p.F592= |
Synonymous |
15/52 |
- |
1 |
12-6057026-G-C |
c.1776C>G |
p.F592L |
Missense |
15/52 |
- |
1 |
12-6057027-A-C |
c.1775T>G |
p.F592C |
Missense |
15/52 |
- |
1 |
12-6057027-A-T |
c.1775T>A |
p.F592Y |
Missense |
15/52 |
- |
2 |
12-6057030-GT-CC |
c.1771_1772delinsGG |
p.T591G |
Missense |
15/52 |
- |
1 |
12-6057034-G-A |
c.1768C>T |
p.P590S |
Missense |
15/52 |
- |
1 |
12-6057038-CG-GT |
c.1763_1764delinsAC |
p.T588N |
Missense |
15/52 |
- |
1 |
12-6057040-T-C |
c.1762A>G |
p.T588A |
Missense |
15/52 |
- |
1 |
12-6057045-A-C |
c.1757T>G |
p.V586G |
Missense |
15/52 |
- |
1 |
12-6057048-G-T |
c.1754C>A |
p.A585E |
Missense |
15/52 |
- |
2 |
12-6057049-C-G |
c.1753G>C |
p.A585P |
Missense |
15/52 |
- |
1 |
12-6057049-C-T |
c.1753G>A |
p.A585T |
Missense |
15/52 |
- |
3 |
12-6057050-G-T |
c.1752C>A |
p.C584* |
Nonsense |
15/52 |
- |
1 |
12-6057051-C-A |
c.1751G>T |
p.C584F |
Missense |
15/52 |
- |
5 |
12-6057051-CA-GT |
c.1750_1751delinsAC |
p.C584T |
Missense |
15/52 |
- |
1 |
12-6057054-G-C |
c.1748C>G |
p.A583G |
Missense |
15/52 |
- |
1 |
12-6057059-C-A |
c.1743G>T |
p.E581D |
Missense |
15/52 |
- |
1 |
12-6057059-C-G |
c.1743G>C |
p.E581D |
Missense |
15/52 |
- |
1 |
12-6057061-C-G |
c.1741G>C |
p.E581Q |
Missense |
15/52 |
- |
1 |
12-6057061-C-T |
c.1741G>A |
p.E581K |
Missense |
15/52 |
- |
1 |
12-6057065-G-C |
c.1737C>G |
p.F579L |
Missense |
15/52 |
- |
1 |
12-6057065-G-T |
c.1737C>A |
p.F579L |
Missense |
15/52 |
- |
1 |
12-6057067-A-G |
c.1735T>C |
p.F579L |
Missense |
15/52 |
- |
1 |
12-6057068-CCT-ACA |
c.1732_1734delinsTGT |
p.R578C |
Missense |
15/52 |
- |
1 |
12-6057069-CT-AG |
c.1732_1733inv |
p.R578L |
Missense |
15/52 |
- |
1 |
12-6057069-CT-TG |
c.1732_1733delinsCA |
p.R578Q |
Missense |
15/52 |
- |
1 |
12-6057072-G-A |
c.1730C>T |
p.T577I |
Missense |
15/52 |
- |
1 |
12-6057074-T-C |
c.1730-2A>G |
- |
IntronicSNV |
- |
14/51 |
1 |
12-6057074-T-G |
c.1730-2A>C |
- |
IntronicSNV |
- |
14/51 |
1 |
12-6057077-G-A |
c.1730-5C>T |
- |
IntronicSNV |
- |
14/51 |
1 |
12-6057551-C-T |
c.1729+298G>A |
- |
IntronicSNV |
- |
14/51 |
1 |
12-6057725-G-A |
c.1729+124C>T |
- |
IntronicSNV |
- |
14/51 |
2 |
12-6057725-G-C |
c.1729+124C>G |
- |
IntronicSNV |
- |
14/51 |
2 |
12-6057846-T-G |
c.1729+3A>C |
- |
IntronicSNV |
- |
14/51 |
1 |
12-6057849-T-C |
c.1729A>G |
p.T577A |
Missense |
14/52 |
- |
1 |
12-6057850-C-A |
c.1728G>T |
p.M576I |
Missense |
14/52 |
- |
2 |
12-6057850-C-G |
c.1728G>C |
p.M576I |
Missense |
14/52 |
- |
1 |
12-6057850-C-T |
c.1728G>A |
p.M576I |
Missense |
14/52 |
- |
1 |
12-6057852-T-A |
c.1726A>T |
p.M576L |
Missense |
14/52 |
- |
3 |
12-6057852-T-C |
c.1726A>G |
p.M576V |
Missense |
14/52 |
- |
2 |
12-6057852-T-G |
c.1726A>C |
p.M576L |
Missense |
14/52 |
- |
5 |
12-6057855-G-A |
c.1723C>T |
p.R575C |
Missense |
14/52 |
- |
2 |
12-6057855-G-C |
c.1723C>G |
p.R575G |
Missense |
14/52 |
- |
1 |
12-6057856-C-A |
c.1722G>T |
p.P574= |
Synonymous |
14/52 |
- |
1 |
12-6057856-C-G |
c.1722G>C |
p.P574= |
Synonymous |
14/52 |
- |
1 |
12-6057856-C-T |
c.1722G>A |
p.P574= |
Synonymous |
14/52 |
- |
3 |
12-6057857-G-A |
c.1721C>T |
p.P574L |
Missense |
14/52 |
- |
1 |
12-6057857-G-C |
c.1721C>G |
p.P574R |
Missense |
14/52 |
- |
1 |
12-6057861-T-C |
c.1717A>G |
p.N573D |
Missense |
14/52 |
- |
2 |
12-6057866-G-A |
c.1712C>T |
p.A571V |
Missense |
14/52 |
- |
1 |
12-6057867-C-G |
c.1711G>C |
p.A571P |
Missense |
14/52 |
- |
2 |
12-6057867-C-T |
c.1711G>A |
p.A571T |
Missense |
14/52 |
- |
1 |
12-6057868-G-A |
c.1710C>T |
p.C570= |
Synonymous |
14/52 |
- |
2 |
12-6057869-C-G |
c.1709G>C |
p.C570S |
Missense |
14/52 |
- |
2 |
12-6057870-A-C |
c.1708T>G |
p.C570G |
Missense |
14/52 |
- |
1 |
12-6057870-A-G |
c.1708T>C |
p.C570R |
Missense |
14/52 |
- |
2 |
12-6057870-A-T |
c.1708T>A |
p.C570S |
Missense |
14/52 |
- |
2 |
12-6057872-G-A |
c.1706C>T |
p.P569L |
Missense |
14/52 |
- |
1 |
12-6057876-C-G |
c.1702G>C |
p.D568H |
Missense |
14/52 |
- |
1 |
12-6057876-C-T |
c.1702G>A |
p.D568N |
Missense |
14/52 |
- |
5 |
12-6057877-G-C |
c.1701C>G |
p.S567R |
Missense |
14/52 |
- |
1 |
12-6057881-T-TG |
c.1696dup |
p.H566Pfs*84 |
Frameshift |
14/52 |
- |
1 |
12-6057883-C-A |
c.1695G>T |
p.Q565H |
Missense |
14/52 |
- |
1 |
12-6057885-G-A |
c.1693C>T |
p.Q565* |
Nonsense |
14/52 |
- |
1 |
12-6057886-C-T |
c.1692G>A |
p.K564= |
Synonymous |
14/52 |
- |
1 |
12-6057888-T-C |
c.1690A>G |
p.K564E |
Missense |
14/52 |
- |
6 |
12-6057892-GC-G |
c.1686del |
p.Q563Rfs*14 |
Frameshift |
14/52 |
- |
1 |
12-6057893-AG-GA |
c.1684_1685delinsTC |
p.L562S |
Missense |
14/52 |
- |
1 |
12-6057895-G-A |
c.1683C>T |
p.D561= |
Synonymous |
14/52 |
- |
1 |
12-6057897-C-A |
c.1681G>T |
p.D561Y |
Missense |
14/52 |
- |
2 |
12-6057897-C-T |
c.1681G>A |
p.D561N |
Missense |
14/52 |
- |
4 |
12-6057900-G-A |
c.1678C>T |
p.Q560* |
Nonsense |
14/52 |
- |
3 |
12-6057901-G-A |
c.1677C>T |
p.C559= |
Synonymous |
14/52 |
- |
1 |
12-6057902-CA-GT |
c.1675_1676delinsAC |
p.C559T |
Missense |
14/52 |
- |
1 |
12-6057902-C-G |
c.1676G>C |
p.C559S |
Missense |
14/52 |
- |
1 |
12-6057903-A-G |
c.1675T>C |
p.C559R |
Missense |
14/52 |
- |
1 |
12-6057903-A-T |
c.1675T>A |
p.C559S |
Missense |
14/52 |
- |
1 |
12-6057906-C-T |
c.1672G>A |
p.D558N |
Missense |
14/52 |
- |
1 |
12-6057907-C-T |
c.1671G>A |
p.G557= |
Synonymous |
14/52 |
- |
5 |
12-6057909-C-A |
c.1669G>T |
p.G557W |
Missense |
14/52 |
- |
2 |
12-6057909-C-G |
c.1669G>C |
p.G557R |
Missense |
14/52 |
- |
1 |
12-6057909-C-T |
c.1669G>A |
p.G557R |
Missense |
14/52 |
- |
2 |
12-6057910-G-A |
c.1668C>T |
p.H556= |
Synonymous |
14/52 |
- |
1 |
12-6057912-G-A |
c.1666C>T |
p.H556Y |
Missense |
14/52 |
- |
1 |
12-6057914-A-C |
c.1664T>G |
p.L555R |
Missense |
14/52 |
- |
1 |
12-6057915-G-C |
c.1663C>G |
p.L555V |
Missense |
14/52 |
- |
1 |
12-6057916-C-T |
c.1662G>A |
p.K554= |
Synonymous |
14/52 |
- |
1 |
12-6057917-T-C |
c.1661A>G |
p.K554R |
Missense |
14/52 |
- |
1 |
12-6057920-C-CA |
c.1657dup |
p.W553Lfs*97 |
Frameshift |
14/52 |
- |
1 |
12-6057924-C-T |
c.1654G>A |
p.A552T |
Missense |
14/52 |
- |
10 |
12-6057925-G-A |
c.1653C>T |
p.N551= |
Synonymous |
14/52 |
- |
1 |
12-6057925-G-C |
c.1653C>G |
p.N551K |
Missense |
14/52 |
- |
1 |
12-6057925-G-T |
c.1653C>A |
p.N551K |
Missense |
14/52 |
- |
1 |
12-6057930-C-G |
c.1648G>C |
p.G550R |
Missense |
14/52 |
- |
2 |
12-6057930-C-T |
c.1648G>A |
p.G550R |
Missense |
14/52 |
- |
5 |
12-6057932-A-G |
c.1646T>C |
p.F549S |
Missense |
14/52 |
- |
1 |
12-6057931-G-C |
c.1647C>G |
p.F549L |
Missense |
14/52 |
- |
1 |
12-6057931-G-T |
c.1647C>A |
p.F549L |
Missense |
14/52 |
- |
1 |
12-6057933-A-G |
c.1645T>C |
p.F549L |
Missense |
14/52 |
- |
1 |
12-6057939-C-A |
c.1639G>T |
p.E547* |
Nonsense |
14/52 |
- |
1 |
12-6057939-C-T |
c.1639G>A |
p.E547K |
Missense |
14/52 |
- |
1 |
12-6057941-A-C |
c.1637T>G |
p.V546G |
Missense |
14/52 |
- |
1 |
12-6057943-CCG-ACA |
c.1633_1635delinsTGT |
p.R545C |
Missense |
14/52 |
- |
2 |
12-6057943-C-T |
c.1635G>A |
p.R545= |
Synonymous |
14/52 |
- |
3 |
12-6057944-C-G |
c.1634G>C |
p.R545P |
Missense |
14/52 |
- |
1 |
12-6057944-C-T |
c.1634G>A |
p.R545Q |
Missense |
14/52 |
- |
4 |
12-6057943-C-A |
c.1635G>T |
p.R545= |
Synonymous |
14/52 |
- |
1 |
12-6057943-C-G |
c.1635G>C |
p.R545= |
Synonymous |
14/52 |
- |
1 |
12-6057945-G-A |
c.1633C>T |
p.R545W |
Missense |
14/52 |
- |
4 |
12-6057945-G-T |
c.1633C>A |
p.R545= |
Synonymous |
14/52 |
- |
1 |
12-6057947-G-A |
c.1631C>T |
p.P544L |
Missense |
14/52 |
- |
1 |
12-6057948-G-A |
c.1630C>T |
p.P544S |
Missense |
14/52 |
- |
1 |
12-6057951-C-A |
c.1627G>T |
p.E543* |
Nonsense |
14/52 |
- |
1 |
12-6057952-C-G |
c.1626G>C |
p.A542= |
Synonymous |
14/52 |
- |
13 |
12-6057952-C-T |
c.1626G>A |
p.A542= |
Synonymous |
14/52 |
- |
13 |
12-6057953-G-A |
c.1625C>T |
p.A542V |
Missense |
14/52 |
- |
2 |
12-6057953-G-C |
c.1625C>G |
p.A542G |
Missense |
14/52 |
- |
9 |
12-6057955-C-A |
c.1623G>T |
p.L541= |
Synonymous |
14/52 |
- |
1 |
12-6057955-C-G |
c.1623G>C |
p.L541= |
Synonymous |
14/52 |
- |
1 |
12-6057955-C-T |
c.1623G>A |
p.L541= |
Synonymous |
14/52 |
- |
1 |
12-6057957-G-A |
c.1621C>T |
p.L541= |
Synonymous |
14/52 |
- |
1 |
12-6057960-C-T |
c.1618G>A |
p.G540R |
Missense |
14/52 |
- |
1 |
12-6057962-G-A |
c.1616C>T |
p.S539F |
Missense |
14/52 |
- |
1 |
12-6057962-G-C |
c.1616C>G |
p.S539C |
Missense |
14/52 |
- |
1 |
12-6057962-G-T |
c.1616C>A |
p.S539Y |
Missense |
14/52 |
- |
1 |
12-6057964-G-A |
c.1614C>T |
p.P538= |
Synonymous |
14/52 |
- |
3 |
12-6057964-G-C |
c.1614C>G |
p.P538= |
Synonymous |
14/52 |
- |
1 |
12-6057965-G-A |
c.1613C>T |
p.P538L |
Missense |
14/52 |
- |
9 |
12-6057965-G-C |
c.1613C>G |
p.P538R |
Missense |
14/52 |
- |
1 |
12-6057965-G-T |
c.1613C>A |
p.P538H |
Missense |
14/52 |
- |
2 |
12-6057966-G-A |
c.1612C>T |
p.P538S |
Missense |
14/52 |
- |
1 |
12-6057968-G-A |
c.1610C>T |
p.T537I |
Missense |
14/52 |
- |
2 |
12-6057968-G-T |
c.1610C>A |
p.T537N |
Missense |
14/52 |
- |
1 |
12-6057971-A-G |
c.1607T>C |
p.L536P |
Missense |
14/52 |
- |
1 |
12-6057972-G-A |
c.1606C>T |
p.L536F |
Missense |
14/52 |
- |
2 |
12-6057973-G-A |
c.1605C>T |
p.F535= |
Synonymous |
14/52 |
- |
2 |
12-6057974-A-G |
c.1604T>C |
p.F535S |
Missense |
14/52 |
- |
1 |
12-6057977-T-C |
c.1601A>G |
p.D534G |
Missense |
14/52 |
- |
1 |
12-6057978-C-T |
c.1600G>A |
p.D534N |
Missense |
14/52 |
- |
1 |
12-6057979-G-A |
c.1599C>T |
p.D533= |
Synonymous |
14/52 |
- |
1 |
12-6057981-C-T |
c.1597G>A |
p.D533N |
Missense |
14/52 |
- |
5 |
12-6057983-C-G |
c.1595G>C |
p.G532A |
Missense |
14/52 |
- |
1 |
12-6057984-C-G |
c.1594G>C |
p.G532R |
Missense |
14/52 |
- |
1 |
12-6057984-C-T |
c.1594G>A |
p.G532S |
Missense |
14/52 |
- |
2 |
12-6057985-C-A |
c.1593G>T |
p.Q531H |
Missense |
14/52 |
- |
1 |
12-6057985-C-T |
c.1593G>A |
p.Q531= |
Synonymous |
14/52 |
- |
3 |
12-6057988-G-A |
c.1590C>T |
p.N530= |
Synonymous |
14/52 |
- |
1 |
12-6057990-T-G |
c.1588A>C |
p.N530H |
Missense |
14/52 |
- |
1 |
12-6057992-C-A |
c.1586G>T |
p.G529V |
Missense |
14/52 |
- |
1 |
12-6057992-C-T |
c.1586G>A |
p.G529D |
Missense |
14/52 |
- |
2 |
12-6057991-GC-G |
c.1586del |
p.G529Afs*48 |
Frameshift |
14/52 |
- |
1 |
12-6057995-T-C |
c.1583A>G |
p.N528S |
Missense |
14/52 |
- |
16 |
12-6057998-T-A |
c.1580A>T |
p.Y527F |
Missense |
14/52 |
- |
1 |
12-6058000-A-C |
c.1578T>G |
p.N526K |
Missense |
14/52 |
- |
1 |
12-6058003-C-A |
c.1575G>T |
p.G525= |
Synonymous |
14/52 |
- |
1 |
12-6058003-C-G |
c.1575G>C |
p.G525= |
Synonymous |
14/52 |
- |
1 |
12-6058003-C-T |
c.1575G>A |
p.G525= |
Synonymous |
14/52 |
- |
1 |
12-6058004-C-T |
c.1574G>A |
p.G525E |
Missense |
14/52 |
- |
1 |
12-6058007-CA-GT |
c.1570_1571delinsAC |
p.C524T |
Missense |
14/52 |
- |
1 |
12-6058007-C-T |
c.1571G>A |
p.C524Y |
Missense |
14/52 |
- |
4 |
12-6058014-C-G |
c.1564G>C |
p.G522R |
Missense |
14/52 |
- |
1 |
12-6058016-C-G |
c.1562G>C |
p.C521S |
Missense |
14/52 |
- |
2 |
12-6058023-T-C |
c.1555A>G |
p.K519E |
Missense |
14/52 |
- |
1 |
12-6058024-C-T |
c.1554G>A |
p.G518= |
Synonymous |
14/52 |
- |
1 |
12-6058027-G-A |
c.1551C>T |
p.A517= |
Synonymous |
14/52 |
- |
1 |
12-6058027-G-C |
c.1551C>G |
p.A517= |
Synonymous |
14/52 |
- |
1 |
12-6058027-G-T |
c.1551C>A |
p.A517= |
Synonymous |
14/52 |
- |
1 |
12-6058028-G-A |
c.1550C>T |
p.A517V |
Missense |
14/52 |
- |
1 |
12-6058028-G-C |
c.1550C>G |
p.A517G |
Missense |
14/52 |
- |
1 |
12-6058030-A-G |
c.1548T>C |
p.Y516= |
Synonymous |
14/52 |
- |
16 |
12-6058030-A-T |
c.1548T>A |
p.Y516* |
Nonsense |
14/52 |
- |
2 |
12-6058034-A-G |
c.1544T>C |
p.V515A |
Missense |
14/52 |
- |
1 |
12-6058035-C-T |
c.1543G>A |
p.V515I |
Missense |
14/52 |
- |
1 |
12-6058037-G-A |
c.1541C>T |
p.P514L |
Missense |
14/52 |
- |
4 |
12-6058040-G-A |
c.1538C>T |
p.S513F |
Missense |
14/52 |
- |
3 |
12-6058041-A-C |
c.1537T>G |
p.S513A |
Missense |
14/52 |
- |
1 |
12-6058041-ACAG-A |
c.1534_1536del |
p.L512del |
SpliceAcceptorDeletion |
14/52 |
13/51 |
1 |
12-6058043-A-C |
c.1535T>G |
p.L512R |
Missense |
14/52 |
- |
1 |
12-6058047-G-T |
c.1534-3C>A |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6058070-G-A |
c.1534-26C>T |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6059861-T-C |
c.1534-1817A>G |
- |
IntronicSNV |
- |
13/51 |
2 |
12-6060032-T-C |
c.1534-1988A>G |
- |
IntronicSNV |
- |
13/51 |
2 |
12-6060157-T-G |
c.1534-2113A>C |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6060567-T-C |
c.1533+2387A>G |
- |
IntronicSNV |
- |
13/51 |
4 |
12-6061320-G-A |
c.1533+1634C>T |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6061320-G-T |
c.1533+1634C>A |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6061479-A-G |
c.1533+1475T>C |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6062889-A-G |
c.1533+65T>C |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6062939-C-T |
c.1533+15G>A |
- |
IntronicSNV |
- |
13/51 |
1 |
12-6062953-C-A |
c.1533+1G>T |
- |
IntronicSNV |
- |
13/51 |
2 |
12-6062953-C-T |
c.1533+1G>A |
- |
IntronicSNV |
- |
13/51 |
3 |
12-6062956-T-G |
c.1531A>C |
p.K511Q |
Missense |
13/52 |
- |
1 |
12-6062957-C-T |
c.1530G>A |
p.V510= |
Synonymous |
13/52 |
- |
2 |
12-6062964-CAGCCTCCCGCGGCCATCCCAGTCCATCTGCAGGTCCTCCCCGTAGCTGAGGCGCACGGA-C |
c.1465_1523del |
p.S489Afs*141 |
InFrameDeletion |
13/52 |
- |
1 |
12-6062965-G-A |
c.1522C>T |
p.L508= |
Synonymous |
13/52 |
- |
1 |
12-6062967-CT-TG |
c.1519_1520delinsCA |
p.R507Q |
Missense |
13/52 |
- |
1 |
12-6062968-T-C |
c.1519A>G |
p.R507G |
Missense |
13/52 |
- |
5 |
12-6062970-C-G |
c.1517G>C |
p.G506A |
Missense |
13/52 |
- |
1 |
12-6062970-C-T |
c.1517G>A |
p.G506E |
Missense |
13/52 |
- |
3 |
12-6062971-C-G |
c.1516G>C |
p.G506R |
Missense |
13/52 |
- |
2 |
12-6062971-C-T |
c.1516G>A |
p.G506R |
Missense |
13/52 |
- |
3 |
12-6062973-C-T |
c.1514G>A |
p.R505H |
Missense |
13/52 |
- |
1 |
12-6062974-G-A |
c.1513C>T |
p.R505C |
Missense |
13/52 |
- |
1 |
12-6062976-C-A |
c.1511G>T |
p.G504V |
Missense |
13/52 |
- |
1 |
12-6062979-T-A |
c.1508A>T |
p.D503V |
Missense |
13/52 |
- |
1 |
12-6062981-C-G |
c.1506G>C |
p.W502C |
Missense |
13/52 |
- |
1 |
12-6062985-T-C |
c.1502A>G |
p.D501G |
Missense |
13/52 |
- |
1 |
12-6062990-C-T |
c.1497G>A |
p.Q499= |
Synonymous |
13/52 |
- |
1 |
12-6062989-TCTG-T |
c.1495_1497del |
p.Q499del |
InFrameDeletion |
13/52 |
- |
1 |
12-6062991-T-G |
c.1496A>C |
p.Q499P |
Missense |
13/52 |
- |
2 |
12-6062992-G-A |
c.1495C>T |
p.Q499* |
Nonsense |
13/52 |
- |
1 |
12-6062993-C-A |
c.1494G>T |
p.L498= |
Synonymous |
13/52 |
- |
1 |
12-6062993-C-G |
c.1494G>C |
p.L498= |
Synonymous |
13/52 |
- |
1 |
12-6062993-C-T |
c.1494G>A |
p.L498= |
Synonymous |
13/52 |
- |
1 |
12-6062995-G-A |
c.1492C>T |
p.L498= |
Synonymous |
13/52 |
- |
2 |
12-6062999-C-T |
c.1488G>A |
p.E496= |
Synonymous |
13/52 |
- |
1 |
12-6063000-T-A |
c.1487A>T |
p.E496V |
Missense |
13/52 |
- |
1 |
12-6063003-C-A |
c.1484G>T |
p.G495V |
Missense |
13/52 |
- |
1 |
12-6063004-C-T |
c.1483G>A |
p.G495R |
Missense |
13/52 |
- |
1 |
12-6063006-T-C |
c.1481A>G |
p.Y494C |
Missense |
13/52 |
- |
1 |
12-6063007-A-G |
c.1480T>C |
p.Y494H |
Missense |
13/52 |
- |
1 |
12-6063008-AG-A |
c.1479del |
p.Y494Tfs*17 |
Frameshift |
13/52 |
- |
1 |
12-6063009-C-G |
c.1478G>C |
p.S493T |
Missense |
13/52 |
- |
4 |
12-6063009-C-T |
c.1478G>A |
p.S493N |
Missense |
13/52 |
- |
1 |
12-6063011-G-A |
c.1476C>T |
p.L492= |
Synonymous |
13/52 |
- |
1 |
12-6063011-G-C |
c.1476C>G |
p.L492= |
Synonymous |
13/52 |
- |
1 |
12-6063011-G-T |
c.1476C>A |
p.L492= |
Synonymous |
13/52 |
- |
1 |
12-6063014-GCG-TCA |
c.1471_1473delinsTGA |
p.R491* |
Nonsense |
13/52 |
- |
1 |
12-6063015-C-G |
c.1472G>C |
p.R491P |
Missense |
13/52 |
- |
1 |
12-6063015-C-T |
c.1472G>A |
p.R491H |
Missense |
13/52 |
- |
3 |
12-6063016-G-A |
c.1471C>T |
p.R491C |
Missense |
13/52 |
- |
2 |
12-6063019-C-T |
c.1468G>A |
p.V490M |
Missense |
13/52 |
- |
2 |
12-6063020-GG-TT |
c.1466_1467delinsAA |
p.S489* |
Nonsense |
13/52 |
- |
1 |
12-6063024-G-C |
c.1463C>G |
p.A488G |
Missense |
13/52 |
- |
2 |
12-6063024-G-T |
c.1463C>A |
p.A488D |
Missense |
13/52 |
- |
1 |
12-6063025-C-T |
c.1462G>A |
p.A488T |
Missense |
13/52 |
- |
1 |
12-6063028-T-C |
c.1459A>G |
p.T487A |
Missense |
13/52 |
- |
1 |
12-6063031-C-T |
c.1456G>A |
p.V486M |
Missense |
13/52 |
- |
1 |
12-6063032-TGT-ACA |
c.1453_1455inv |
p.T485C |
Missense |
13/52 |
- |
1 |
12-6063034-T-A |
c.1453A>T |
p.T485S |
Missense |
13/52 |
- |
1 |
12-6063035-A-G |
c.1452T>C |
p.H484= |
Synonymous |
13/52 |
- |
2 |
12-6063036-T-A |
c.1451A>T |
p.H484L |
Missense |
13/52 |
- |
11 |
12-6063036-T-C |
c.1451A>G |
p.H484R |
Missense |
13/52 |
- |
55 |
12-6063037-G-A |
c.1450C>T |
p.H484Y |
Missense |
13/52 |
- |
3 |
12-6063037-G-T |
c.1450C>A |
p.H484N |
Missense |
13/52 |
- |
2 |
12-6063039-T-C |
c.1448A>G |
p.Q483R |
Missense |
13/52 |
- |
1 |
12-6063040-G-A |
c.1447C>T |
p.Q483* |
Nonsense |
13/52 |
- |
1 |
12-6063041-G-C |
c.1446C>G |
p.I482M |
Missense |
13/52 |
- |
2 |
12-6063045-C-T |
c.1442G>A |
p.R481H |
Missense |
13/52 |
- |
3 |
12-6063046-G-A |
c.1441C>T |
p.R481C |
Missense |
13/52 |
- |
4 |
12-6063046-G-T |
c.1441C>A |
p.R481S |
Missense |
13/52 |
- |
1 |
12-6063048-A-C |
c.1439T>G |
p.L480R |
Missense |
13/52 |
- |
1 |
12-6063050-G-A |
c.1437C>T |
p.D479= |
Synonymous |
13/52 |
- |
2 |
12-6063050-G-T |
c.1437C>A |
p.D479E |
Missense |
13/52 |
- |
2 |
12-6063052-C-T |
c.1435G>A |
p.D479N |
Missense |
13/52 |
- |
1 |
12-6063054-C-T |
c.1433G>A |
p.G478D |
Missense |
13/52 |
- |
2 |
12-6063064-A-G |
c.1433-10T>C |
- |
IntronicSNV |
- |
12/51 |
1 |
12-6063182-C-A |
c.1433-128G>T |
- |
IntronicSNV |
- |
12/51 |
3 |
12-6063182-C-G |
c.1433-128G>C |
- |
IntronicSNV |
- |
12/51 |
3 |
12-6063182-C-T |
c.1433-128G>A |
- |
IntronicSNV |
- |
12/51 |
3 |
12-6063227-T-C |
c.1433-173A>G |
- |
IntronicSNV |
- |
12/51 |
2 |
12-6064080-G-T |
c.1432+166C>A |
- |
IntronicSNV |
- |
12/51 |
1 |
12-6064248-T-C |
c.1430A>G |
p.K477R |
Missense |
12/52 |
- |
1 |
12-6064255-G-T |
c.1423C>A |
p.L475I |
Missense |
12/52 |
- |
1 |
12-6064259-G-A |
c.1419C>T |
p.L473= |
Synonymous |
12/52 |
- |
1 |
12-6064259-G-C |
c.1419C>G |
p.L473= |
Synonymous |
12/52 |
- |
1 |
12-6064259-G-T |
c.1419C>A |
p.L473= |
Synonymous |
12/52 |
- |
3 |
12-6064261-G-T |
c.1417C>A |
p.L473I |
Missense |
12/52 |
- |
1 |
12-6064262-C-T |
c.1416G>A |
p.Q472= |
Synonymous |
12/52 |
- |
1 |
12-6064265-G-A |
c.1413C>T |
p.V471= |
Synonymous |
12/52 |
- |
1 |
12-6064265-G-C |
c.1413C>G |
p.V471= |
Synonymous |
12/52 |
- |
1 |
12-6064265-G-T |
c.1413C>A |
p.V471= |
Synonymous |
12/52 |
- |
1 |
12-6064267-C-T |
c.1411G>A |
p.V471I |
Missense |
12/52 |
- |
30 |
12-6064268-G-A |
c.1410C>T |
p.D470= |
Synonymous |
12/52 |
- |
2 |
12-6064270-C-A |
c.1408G>T |
p.D470Y |
Missense |
12/52 |
- |
1 |
12-6064271-C-A |
c.1407G>T |
p.Q469H |
Missense |
12/52 |
- |
1 |
12-6064271-C-G |
c.1407G>C |
p.Q469H |
Missense |
12/52 |
- |
1 |
12-6064272-T-C |
c.1406A>G |
p.Q469R |
Missense |
12/52 |
- |
1 |
12-6064274-G-A |
c.1404C>T |
p.G468= |
Synonymous |
12/52 |
- |
1 |
12-6064274-G-C |
c.1404C>G |
p.G468= |
Synonymous |
12/52 |
- |
1 |
12-6064274-G-T |
c.1404C>A |
p.G468= |
Synonymous |
12/52 |
- |
1 |
12-6064275-C-T |
c.1403G>A |
p.G468D |
Missense |
12/52 |
- |
1 |
12-6064279-C-T |
c.1399G>A |
p.D467N |
Missense |
12/52 |
- |
2 |
12-6064281-A-G |
c.1397T>C |
p.M466T |
Missense |
12/52 |
- |
1 |
12-6064282-T-C |
c.1396A>G |
p.M466V |
Missense |
12/52 |
- |
2 |
12-6064289-TCC-ACA |
c.1387_1389delinsTGT |
p.G463C |
Missense |
12/52 |
- |
1 |
12-6064291-C-G |
c.1387G>C |
p.G463R |
Missense |
12/52 |
- |
1 |
12-6064291-C-T |
c.1387G>A |
p.G463R |
Missense |
12/52 |
- |
1 |
12-6064292-TGC-ACA |
c.1384_1386delinsTGT |
p.A462C |
Missense |
12/52 |
- |
1 |
12-6064295-CCC-ACA |
c.1381_1383delinsTGT |
p.G461C |
Missense |
12/52 |
- |
1 |
12-6064296-C-G |
c.1382G>C |
p.G461A |
Missense |
12/52 |
- |
1 |
12-6064298-A-C |
c.1380T>G |
p.H460Q |
Missense |
12/52 |
- |
1 |
12-6064298-ATG-CAT |
c.1378_1380inv |
p.H460M |
Missense |
12/52 |
- |
1 |
12-6064298-ATG-CTT |
c.1378_1380delinsAAG |
p.H460K |
Missense |
12/52 |
- |
2 |
12-6064299-T-A |
c.1379A>T |
p.H460L |
Missense |
12/52 |
- |
1 |
12-6064299-T-C |
c.1379A>G |
p.H460R |
Missense |
12/52 |
- |
2 |
12-6064299-TG-GC |
c.1378_1379delinsGC |
p.H460A |
Missense |
12/52 |
- |
2 |
12-6064300-G-A |
c.1378C>T |
p.H460Y |
Missense |
12/52 |
- |
1 |
12-6064305-AGTTTCACAAGGCTGTTGTGCAGGCCAG-A |
c.1346_1372del |
p.P449_K457del |
InFrameDeletion |
12/52 |
- |
1 |
12-6064307-T-A |
c.1371A>T |
p.K457N |
Missense |
12/52 |
- |
1 |
12-6064307-T-G |
c.1371A>C |
p.K457N |
Missense |
12/52 |
- |
1 |
12-6064312-C-A |
c.1366G>T |
p.V456L |
Missense |
12/52 |
- |
1 |
12-6064312-C-G |
c.1366G>C |
p.V456L |
Missense |
12/52 |
- |
1 |
12-6064312-C-T |
c.1366G>A |
p.V456M |
Missense |
12/52 |
- |
1 |
12-6064316-G-C |
c.1362C>G |
p.S454R |
Missense |
12/52 |
- |
1 |
12-6064316-G-T |
c.1362C>A |
p.S454R |
Missense |
12/52 |
- |
1 |
12-6064318-T-G |
c.1360A>C |
p.S454R |
Missense |
12/52 |
- |
1 |
12-6064317-CT-GG |
c.1360_1361delinsCC |
p.S454P |
Missense |
12/52 |
- |
1 |
12-6064318-T-A |
c.1360A>T |
p.S454C |
Missense |
12/52 |
- |
2 |
12-6064330-C-T |
c.1348G>A |
p.G450S |
Missense |
12/52 |
- |
1 |
12-6064331-A-C |
c.1347T>G |
p.P449= |
Synonymous |
12/52 |
- |
1 |
12-6064331-A-G |
c.1347T>C |
p.P449= |
Synonymous |
12/52 |
- |
1 |
12-6064331-A-T |
c.1347T>A |
p.P449= |
Synonymous |
12/52 |
- |
1 |
12-6064332-G-A |
c.1346C>T |
p.P449L |
Missense |
12/52 |
- |
1 |
12-6064333-G-A |
c.1345C>T |
p.P449S |
Missense |
12/52 |
- |
1 |
12-6064334-C-T |
c.1344G>A |
p.L448= |
Synonymous |
12/52 |
- |
1 |
12-6064335-A-G |
c.1343T>C |
p.L448P |
Missense |
12/52 |
- |
1 |
12-6064336-G-C |
c.1342C>G |
p.L448V |
Missense |
12/52 |
- |
1 |
12-6064338-C-G |
c.1340G>C |
p.R447P |
Missense |
12/52 |
- |
1 |
12-6064338-C-T |
c.1340G>A |
p.R447Q |
Missense |
12/52 |
- |
2 |
12-6064339-G-A |
c.1339C>T |
p.R447W |
Missense |
12/52 |
- |
3 |
12-6064338-CG-C |
c.1339del |
p.R447Gfs*10 |
Frameshift |
12/52 |
- |
1 |
12-6064342-C-A |
c.1336G>T |
p.V446F |
Missense |
12/52 |
- |
1 |
12-6064343-G-A |
c.1335C>T |
p.T445= |
Synonymous |
12/52 |
- |
1 |
12-6064343-G-C |
c.1335C>G |
p.T445= |
Synonymous |
12/52 |
- |
1 |
12-6064343-G-T |
c.1335C>A |
p.T445= |
Synonymous |
12/52 |
- |
1 |
12-6064344-G-A |
c.1334C>T |
p.T445I |
Missense |
12/52 |
- |
5 |
12-6064345-T-A |
c.1333A>T |
p.T445S |
Missense |
12/52 |
- |
1 |
12-6064348-C-T |
c.1330G>A |
p.V444I |
Missense |
12/52 |
- |
1 |
12-6064349-G-A |
c.1329C>T |
p.S443= |
Synonymous |
12/52 |
- |
4 |
12-6064350-G-A |
c.1328C>T |
p.S443F |
Missense |
12/52 |
- |
5 |
12-6064350-GA-AG |
c.1327_1328delinsCT |
p.S443L |
Missense |
12/52 |
- |
1 |
12-6064350-GA-TT |
c.1327_1328delinsAA |
p.S443N |
Missense |
12/52 |
- |
1 |
12-6064352-GCG-CCA |
c.1324_1326delinsTGG |
p.R442W |
Missense |
12/52 |
- |
1 |
12-6064351-AGCG-A |
c.1324_1326del |
p.R442del |
InFrameDeletion |
12/52 |
- |
1 |
12-6064353-C-T |
c.1325G>A |
p.R442H |
Missense |
12/52 |
- |
5 |
12-6064354-G-A |
c.1324C>T |
p.R442C |
Missense |
12/52 |
- |
2 |
12-6064359-C-A |
c.1319G>T |
p.C440F |
Missense |
12/52 |
- |
1 |
12-6064359-CA-GT |
c.1318_1319delinsAC |
p.C440T |
Missense |
12/52 |
- |
1 |
12-6064359-C-T |
c.1319G>A |
p.C440Y |
Missense |
12/52 |
- |
1 |
12-6064363-C-G |
c.1315G>C |
p.V439L |
Missense |
12/52 |
- |
1 |
12-6064365-G-A |
c.1313C>T |
p.A438V |
Missense |
12/52 |
- |
1 |
12-6064366-C-A |
c.1312G>T |
p.A438S |
Missense |
12/52 |
- |
2 |
12-6064366-C-T |
c.1312G>A |
p.A438T |
Missense |
12/52 |
- |
2 |
12-6064367-G-A |
c.1311C>T |
p.D437= |
Synonymous |
12/52 |
- |
2 |
12-6064369-C-A |
c.1309G>T |
p.D437Y |
Missense |
12/52 |
- |
1 |
12-6064369-C-T |
c.1309G>A |
p.D437N |
Missense |
12/52 |
- |
3 |
12-6064370-G-A |
c.1308C>T |
p.R436= |
Synonymous |
12/52 |
- |
1 |
12-6064371-C-T |
c.1307G>A |
p.R436H |
Missense |
12/52 |
- |
4 |
12-6064372-G-A |
c.1306C>T |
p.R436C |
Missense |
12/52 |
- |
3 |
12-6064372-G-T |
c.1306C>A |
p.R436S |
Missense |
12/52 |
- |
4 |
12-6064375-C-T |
c.1303G>A |
p.D435N |
Missense |
12/52 |
- |
1 |
12-6064380-G-A |
c.1298C>T |
p.A433V |
Missense |
12/52 |
- |
1 |
12-6064381-C-T |
c.1297G>A |
p.A433T |
Missense |
12/52 |
- |
1 |
12-6065028-A-G |
c.1293+109T>C |
- |
IntronicSNV |
- |
11/51 |
1 |
12-6065051-G-A |
c.1293+86C>T |
- |
IntronicSNV |
- |
11/51 |
1 |
12-6065135-A-G |
c.1293+2T>C |
- |
IntronicSNV |
- |
11/51 |
1 |
12-6065139-G-A |
c.1291C>T |
p.Q431* |
Nonsense |
11/52 |
- |
3 |
12-6065143-AG-CA |
c.1286_1287delinsTG |
p.T429M |
Missense |
11/52 |
- |
1 |
12-6065144-G-A |
c.1286C>T |
p.T429I |
Missense |
11/52 |
- |
1 |
12-6065144-G-C |
c.1286C>G |
p.T429S |
Missense |
11/52 |
- |
1 |
12-6065147-T-A |
c.1283A>T |
p.E428V |
Missense |
11/52 |
- |
2 |
12-6065148-C-T |
c.1282G>A |
p.E428K |
Missense |
11/52 |
- |
1 |
12-6065150-A-G |
c.1280T>C |
p.I427T |
Missense |
11/52 |
- |
2 |
12-6065150-A-T |
c.1280T>A |
p.I427N |
Missense |
11/52 |
- |
1 |
12-6065158-G-A |
c.1272C>T |
p.S424= |
Synonymous |
11/52 |
- |
1 |
12-6065159-G-C |
c.1271C>G |
p.S424C |
Missense |
11/52 |
- |
2 |
12-6065161-G-A |
c.1269C>T |
p.F423= |
Synonymous |
11/52 |
- |
1 |
12-6065159-GAGA-G |
c.1268_1270del |
p.F423del |
InFrameDeletion |
11/52 |
- |
1 |
12-6065162-A-G |
c.1268T>C |
p.F423S |
Missense |
11/52 |
- |
1 |
12-6065164-G-A |
c.1266C>T |
p.S422= |
Synonymous |
11/52 |
- |
1 |
12-6065165-G-A |
c.1265C>T |
p.S422F |
Missense |
11/52 |
- |
1 |
12-6065167-G-A |
c.1263C>T |
p.H421= |
Synonymous |
11/52 |
- |
1 |
12-6065171-T-G |
c.1259A>C |
p.D420A |
Missense |
11/52 |
- |
1 |
12-6065173-C-A |
c.1257G>T |
p.Q419H |
Missense |
11/52 |
- |
1 |
12-6065173-C-G |
c.1257G>C |
p.Q419H |
Missense |
11/52 |
- |
1 |
12-6065175-G-A |
c.1255C>T |
p.Q419* |
Nonsense |
11/52 |
- |
1 |
12-6065177-C-G |
c.1253G>C |
p.C418S |
Missense |
11/52 |
- |
1 |
12-6065180-T-C |
c.1250A>G |
p.D417G |
Missense |
11/52 |
- |
1 |
12-6065182-C-T |
c.1248G>A |
p.R416= |
Synonymous |
11/52 |
- |
1 |
12-6065183-C-G |
c.1247G>C |
p.R416P |
Missense |
11/52 |
- |
1 |
12-6065183-C-T |
c.1247G>A |
p.R416Q |
Missense |
11/52 |
- |
6 |
12-6065184-G-A |
c.1246C>T |
p.R416W |
Missense |
11/52 |
- |
5 |
12-6065186-G-C |
c.1244C>G |
p.A415G |
Missense |
11/52 |
- |
1 |
12-6065190-G-T |
c.1240C>A |
p.L414M |
Missense |
11/52 |
- |
1 |
12-6065190-G-GC |
c.1239dup |
p.L414Afs*15 |
Frameshift |
11/52 |
- |
1 |
12-6065193-G-T |
c.1237C>A |
p.L413M |
Missense |
11/52 |
- |
4 |
12-6065199-G-A |
c.1231C>T |
p.Q411* |
Nonsense |
11/52 |
- |
1 |
12-6065200-G-A |
c.1230C>T |
p.C410= |
Synonymous |
11/52 |
- |
1 |
12-6065201-CA-GT |
c.1228_1229delinsAC |
p.C410T |
Missense |
11/52 |
- |
1 |
12-6065201-C-G |
c.1229G>C |
p.C410S |
Missense |
11/52 |
- |
1 |
12-6065202-A-T |
c.1228T>A |
p.C410S |
Missense |
11/52 |
- |
1 |
12-6065208-C-G |
c.1222G>C |
p.G408R |
Missense |
11/52 |
- |
1 |
12-6065208-C-T |
c.1222G>A |
p.G408R |
Missense |
11/52 |
- |
2 |
12-6065210-C-A |
c.1220G>T |
p.S407I |
Missense |
11/52 |
- |
1 |
12-6065211-T-G |
c.1219A>C |
p.S407R |
Missense |
11/52 |
- |
1 |
12-6065221-G-A |
c.1209C>T |
p.Y403= |
Synonymous |
11/52 |
- |
1 |
12-6065221-G-C |
c.1209C>G |
p.Y403* |
Nonsense |
11/52 |
- |
1 |
12-6065224-TCT-ACA |
c.1204_1206delinsTGT |
p.R402C |
Missense |
11/52 |
- |
1 |
12-6065225-C-G |
c.1205G>C |
p.R402T |
Missense |
11/52 |
- |
1 |
12-6065226-T-C |
c.1204A>G |
p.R402G |
Missense |
11/52 |
- |
1 |
12-6065229-T-C |
c.1201A>G |
p.N401D |
Missense |
11/52 |
- |
1 |
12-6065231-GT-G |
c.1199del |
p.D400Afs*57 |
Frameshift |
11/52 |
- |
1 |
12-6065232-C-T |
c.1198G>A |
p.D400N |
Missense |
11/52 |
- |
1 |
12-6065237-C-G |
c.1193G>C |
p.S398T |
Missense |
11/52 |
- |
1 |
12-6065238-T-A |
c.1192A>T |
p.S398C |
Missense |
11/52 |
- |
1 |
12-6065238-T-G |
c.1192A>C |
p.S398R |
Missense |
11/52 |
- |
1 |
12-6065239-C-T |
c.1191G>A |
p.K397= |
Synonymous |
11/52 |
- |
1 |
12-6065240-T-C |
c.1190A>G |
p.K397R |
Missense |
11/52 |
- |
2 |
12-6065239-C-CT |
c.1190dup |
p.S398Efs*3 |
Frameshift |
11/52 |
- |
1 |
12-6065242-G-A |
c.1188C>T |
p.F396= |
Synonymous |
11/52 |
- |
1 |
12-6065242-GA-G |
c.1187del |
p.F396Sfs*61 |
Frameshift |
11/52 |
- |
1 |
12-6065246-T-C |
c.1184A>G |
p.H395R |
Missense |
11/52 |
- |
2 |
12-6065246-TG-GC |
c.1183_1184delinsGC |
p.H395A |
Missense |
11/52 |
- |
2 |
12-6065248-T-C |
c.1182A>G |
p.S394= |
Synonymous |
11/52 |
- |
11 |
12-6065248-T-G |
c.1182A>C |
p.S394= |
Synonymous |
11/52 |
- |
14 |
12-6065245-GTGTGATTGACC-G |
c.1174_1184del |
p.G392Lfs*5 |
Frameshift |
11/52 |
- |
1 |
12-6065254-A-C |
c.1176T>G |
p.G392= |
Synonymous |
11/52 |
- |
1 |
12-6065254-A-G |
c.1176T>C |
p.G392= |
Synonymous |
11/52 |
- |
1 |
12-6065254-A-T |
c.1176T>A |
p.G392= |
Synonymous |
11/52 |
- |
1 |
12-6065256-C-A |
c.1174G>T |
p.G392C |
Missense |
11/52 |
- |
1 |
12-6065257-T-A |
c.1173A>T |
p.T391= |
Synonymous |
11/52 |
- |
17 |
12-6065257-T-C |
c.1173A>G |
p.T391= |
Synonymous |
11/52 |
- |
1 |
12-6065257-T-G |
c.1173A>C |
p.T391= |
Synonymous |
11/52 |
- |
1 |
12-6065262-C-T |
c.1168G>A |
p.V390I |
Missense |
11/52 |
- |
1 |
12-6065263-A-C |
c.1167T>G |
p.L389= |
Synonymous |
11/52 |
- |
1 |
12-6065263-A-G |
c.1167T>C |
p.L389= |
Synonymous |
11/52 |
- |
1 |
12-6065263-A-T |
c.1167T>A |
p.L389= |
Synonymous |
11/52 |
- |
1 |
12-6065266-G-A |
c.1164C>T |
p.C388= |
Synonymous |
11/52 |
- |
1 |
12-6065266-G-C |
c.1164C>G |
p.C388W |
Missense |
11/52 |
- |
1 |
12-6065270-TC-GG |
c.1159_1160delinsCC |
p.E387P |
Missense |
11/52 |
- |
1 |
12-6065271-C-G |
c.1159G>C |
p.E387Q |
Missense |
11/52 |
- |
2 |
12-6065271-C-T |
c.1159G>A |
p.E387K |
Missense |
11/52 |
- |
1 |
12-6065273-C-A |
c.1157G>T |
p.G386V |
Missense |
11/52 |
- |
1 |
12-6065273-C-G |
c.1157G>C |
p.G386A |
Missense |
11/52 |
- |
2 |
12-6065563-G-A |
c.1157-290C>T |
- |
IntronicSNV |
- |
10/51 |
2 |
12-6065563-G-C |
c.1157-290C>G |
- |
IntronicSNV |
- |
10/51 |
2 |
12-6066413-T-C |
c.1157-1140A>G |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6066413-T-G |
c.1157-1140A>C |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071255-G-A |
c.1156+42C>T |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071259-C-T |
c.1156+38G>A |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071270-G-A |
c.1156+27C>T |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071295-A-G |
c.1156+2T>C |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071296-C-T |
c.1156+1G>A |
- |
IntronicSNV |
- |
10/51 |
1 |
12-6071297-C-A |
c.1156G>T |
p.G386W |
Missense |
10/52 |
- |
1 |
12-6071299-G-A |
c.1154C>T |
p.P385L |
Missense |
10/52 |
- |
1 |
12-6071299-G-C |
c.1154C>G |
p.P385R |
Missense |
10/52 |
- |
1 |
12-6071300-G-A |
c.1153C>T |
p.P385S |
Missense |
10/52 |
- |
1 |
12-6071301-A-T |
c.1152T>A |
p.C384* |
Nonsense |
10/52 |
- |
1 |
12-6071303-A-G |
c.1150T>C |
p.C384R |
Missense |
10/52 |
- |
1 |
12-6071306-C-A |
c.1147G>T |
p.E383* |
Nonsense |
10/52 |
- |
2 |
12-6071306-C-T |
c.1147G>A |
p.E383K |
Missense |
10/52 |
- |
1 |
12-6071307-T-A |
c.1146A>T |
p.E382D |
Missense |
10/52 |
- |
1 |
12-6071309-C-T |
c.1144G>A |
p.E382K |
Missense |
10/52 |
- |
2 |
12-6071310-A-G |
c.1143T>C |
p.N381= |
Synonymous |
10/52 |
- |
1 |
12-6071314-C-T |
c.1139G>A |
p.S380N |
Missense |
10/52 |
- |
1 |
12-6071317-CA-GT |
c.1135_1136delinsAC |
p.C379T |
Missense |
10/52 |
- |
1 |
12-6071318-A-C |
c.1135T>G |
p.C379G |
Missense |
10/52 |
- |
4 |
12-6071319-G-T |
c.1134C>A |
p.I378= |
Synonymous |
10/52 |
- |
1 |
12-6071322-C-A |
c.1131G>T |
p.W377C |
Missense |
10/52 |
- |
1 |
12-6071322-C-G |
c.1131G>C |
p.W377C |
Missense |
10/52 |
- |
1 |
12-6071322-C-T |
c.1131G>A |
p.W377* |
Nonsense |
10/52 |
- |
1 |
12-6071323-C-T |
c.1130G>A |
p.W377* |
Nonsense |
10/52 |
- |
2 |
12-6071327-G-C |
c.1126C>G |
p.Q376E |
Missense |
10/52 |
- |
1 |
12-6071328-G-A |
c.1125C>T |
p.S375= |
Synonymous |
10/52 |
- |
1 |
12-6071329-CT-AA |
c.1123_1124delinsTT |
p.S375F |
Missense |
10/52 |
- |
1 |
12-6071335-C-A |
c.1118G>T |
p.R373L |
Missense |
10/52 |
- |
1 |
12-6071335-C-T |
c.1118G>A |
p.R373Q |
Missense |
10/52 |
- |
1 |
12-6071336-G-A |
c.1117C>T |
p.R373* |
Nonsense |
10/52 |
- |
5 |
12-6071338-C-T |
c.1115G>A |
p.C372Y |
Missense |
10/52 |
- |
1 |
12-6071341-A-G |
c.1112T>C |
p.I371T |
Missense |
10/52 |
- |
1 |
12-6071416-A-T |
c.1110-73T>A |
- |
IntronicSNV |
- |
9/51 |
5 |
12-6071990-G-T |
c.1109+341C>A |
- |
IntronicSNV |
- |
9/51 |
1 |
12-6072329-A-G |
c.1109+2T>C |
- |
IntronicSNV |
- |
9/51 |
2 |
12-6072331-CA-GT |
c.1108_1109delinsAC |
p.C370T |
Missense |
9/52 |
- |
1 |
12-6072331-C-T |
c.1109G>A |
p.C370Y |
Missense |
9/52 |
- |
3 |
12-6072332-A-C |
c.1108T>G |
p.C370G |
Missense |
9/52 |
- |
1 |
12-6072333-G-A |
c.1107C>T |
p.T369= |
Synonymous |
9/52 |
- |
1 |
12-6072333-G-C |
c.1107C>G |
p.T369= |
Synonymous |
9/52 |
- |
1 |
12-6072333-G-T |
c.1107C>A |
p.T369= |
Synonymous |
9/52 |
- |
1 |
12-6072334-G-A |
c.1106C>T |
p.T369I |
Missense |
9/52 |
- |
2 |
12-6072340-CA-GC |
c.1099_1100delinsGC |
p.C367A |
Missense |
9/52 |
- |
1 |
12-6072340-CA-GT |
c.1099_1100delinsAC |
p.C367T |
Missense |
9/52 |
- |
1 |
12-6072340-C-T |
c.1100G>A |
p.C367Y |
Missense |
9/52 |
- |
1 |
12-6072342-G-A |
c.1098C>T |
p.D366= |
Synonymous |
9/52 |
- |
1 |
12-6072343-T-C |
c.1097A>G |
p.D366G |
Missense |
9/52 |
- |
1 |
12-6072344-C-T |
c.1096G>A |
p.D366N |
Missense |
9/52 |
- |
1 |
12-6072345-TCG-GCT |
c.1093_1095delinsAGC |
p.R365S |
Missense |
9/52 |
- |
1 |
12-6072346-C-A |
c.1094G>T |
p.R365L |
Missense |
9/52 |
- |
1 |
12-6072347-G-A |
c.1093C>T |
p.R365* |
Nonsense |
9/52 |
- |
3 |
12-6072347-G-T |
c.1093C>A |
p.R365= |
Synonymous |
9/52 |
- |
1 |
12-6072349-G-A |
c.1091C>T |
p.S364F |
Missense |
9/52 |
- |
1 |
12-6072346-CGA-C |
c.1092_1093del |
p.D366Lfs*16 |
Frameshift |
9/52 |
- |
1 |
12-6072353-G-A |
c.1087C>T |
p.L363F |
Missense |
9/52 |
- |
1 |
12-6072354-G-A |
c.1086C>T |
p.S362= |
Synonymous |
9/52 |
- |
2 |
12-6072358-G-A |
c.1082C>T |
p.T361I |
Missense |
9/52 |
- |
1 |
12-6072361-C-A |
c.1079G>T |
p.G360V |
Missense |
9/52 |
- |
2 |
12-6072361-C-T |
c.1079G>A |
p.G360D |
Missense |
9/52 |
- |
2 |
12-6072362-C-A |
c.1078G>T |
p.G360C |
Missense |
9/52 |
- |
2 |
12-6072362-C-T |
c.1078G>A |
p.G360S |
Missense |
9/52 |
- |
2 |
12-6072363-G-A |
c.1077C>T |
p.P359= |
Synonymous |
9/52 |
- |
3 |
12-6072363-G-C |
c.1077C>G |
p.P359= |
Synonymous |
9/52 |
- |
1 |
12-6072363-G-T |
c.1077C>A |
p.P359= |
Synonymous |
9/52 |
- |
2 |
12-6072365-G-A |
c.1075C>T |
p.P359S |
Missense |
9/52 |
- |
2 |
12-6072368-G-C |
c.1072C>G |
p.P358A |
Missense |
9/52 |
- |
1 |
12-6072369-G-T |
c.1071C>A |
p.Y357* |
Nonsense |
9/52 |
- |
1 |
12-6072371-A-G |
c.1069T>C |
p.Y357H |
Missense |
9/52 |
- |
1 |
12-6072372-G-C |
c.1068C>G |
p.R356= |
Synonymous |
9/52 |
- |
1 |
12-6072373-C-A |
c.1067G>T |
p.R356L |
Missense |
9/52 |
- |
1 |
12-6072373-C-T |
c.1067G>A |
p.R356H |
Missense |
9/52 |
- |
3 |
12-6072374-G-A |
c.1066C>T |
p.R356C |
Missense |
9/52 |
- |
2 |
12-6072374-G-T |
c.1066C>A |
p.R356S |
Missense |
9/52 |
- |
1 |
12-6072376-T-G |
c.1064A>C |
p.K355T |
Missense |
9/52 |
- |
1 |
12-6072380-C-A |
c.1060G>T |
p.G354* |
Nonsense |
9/52 |
- |
2 |
12-6072380-C-T |
c.1060G>A |
p.G354R |
Missense |
9/52 |
- |
3 |
12-6072381-G-A |
c.1059C>T |
p.S353= |
Synonymous |
9/52 |
- |
2 |
12-6072381-G-T |
c.1059C>A |
p.S353= |
Synonymous |
9/52 |
- |
1 |
12-6072382-G-A |
c.1058C>T |
p.S353F |
Missense |
9/52 |
- |
1 |
12-6072382-GA-CC |
c.1057_1058delinsGG |
p.S353G |
Missense |
9/52 |
- |
1 |
12-6072383-A-G |
c.1057T>C |
p.S353P |
Missense |
9/52 |
- |
1 |
12-6072385-T-C |
c.1055A>G |
p.H352R |
Missense |
9/52 |
- |
3 |
12-6072389-C-T |
c.1051G>A |
p.V351M |
Missense |
9/52 |
- |
1 |
12-6072391-CA-GC |
c.1048_1049delinsGC |
p.C350A |
Missense |
9/52 |
- |
1 |
12-6072394-G-T |
c.1046C>A |
p.P349H |
Missense |
9/52 |
- |
1 |
12-6072392-AG-A |
c.1047del |
p.C350Afs*107 |
Frameshift |
9/52 |
- |
1 |
12-6072401-C-T |
c.1039G>A |
p.E347K |
Missense |
9/52 |
- |
1 |
12-6072402-GG-CA |
c.1037_1038delinsTG |
p.T346M |
Missense |
9/52 |
- |
1 |
12-6072403-G-A |
c.1037C>T |
p.T346I |
Missense |
9/52 |
- |
7 |
12-6072406-GCTC-G |
c.1032_1034del |
p.E344_S345delinsD |
MultiAAMissense |
9/52 |
- |
1 |
12-6072407-T-C |
c.1033A>G |
p.S345G |
Missense |
9/52 |
- |
1 |
12-6072408-C-A |
c.1032G>T |
p.E344D |
Missense |
9/52 |
- |
1 |
12-6072408-C-CG |
c.1031_1032insC |
p.E344Dfs*39 |
Frameshift |
9/52 |
- |
1 |
12-6072413-C-A |
c.1027G>T |
p.V343L |
Missense |
9/52 |
- |
2 |
12-6072413-C-T |
c.1027G>A |
p.V343M |
Missense |
9/52 |
- |
1 |
12-6072418-GAGGCCTTCATCCAGGAGCTGTCCCT-G |
c.998_1022del |
p.E333Afs*116 |
SpliceAcceptorDeletion |
9/52 |
- |
1 |
12-6072420-G-A |
c.1020C>T |
p.G340= |
Synonymous |
9/52 |
- |
1 |
12-6072421-C-A |
c.1019G>T |
p.G340V |
Missense |
9/52 |
- |
1 |
12-6072422-C-G |
c.1018G>C |
p.G340R |
Missense |
9/52 |
- |
2 |
12-6072423-T-C |
c.1017A>G |
p.E339= |
Synonymous |
9/52 |
- |
1 |
12-6072425-C-G |
c.1015G>C |
p.E339Q |
Missense |
9/52 |
- |
1 |
12-6072425-C-T |
c.1015G>A |
p.E339K |
Missense |
9/52 |
- |
2 |
12-6072428-C-T |
c.1012G>A |
p.D338N |
Missense |
9/52 |
- |
5 |
12-6072429-C-G |
c.1011G>C |
p.L337= |
Synonymous |
9/52 |
- |
1 |
12-6072432-G-A |
c.1008C>T |
p.L336= |
Synonymous |
9/52 |
- |
2 |
12-6072438-TCC-CCA |
c.1000_1002delinsTGG |
p.G334W |
Missense |
9/52 |
- |
1 |
12-6072438-TC-GT |
c.1001_1002delinsAC |
p.G334D |
Missense |
9/52 |
- |
1 |
12-6072439-C-T |
c.1001G>A |
p.G334E |
Missense |
9/52 |
- |
6 |
12-6072440-C-G |
c.1000G>C |
p.G334R |
Missense |
9/52 |
- |
1 |
12-6072440-C-T |
c.1000G>A |
p.G334R |
Missense |
9/52 |
- |
1 |
12-6072442-T-C |
c.998A>G |
p.E333G |
Missense |
9/52 |
- |
1 |
12-6072469-G-A |
c.998-27C>T |
- |
IntronicSNV |
- |
8/51 |
6 |
12-6072469-G-C |
c.998-27C>G |
- |
IntronicSNV |
- |
8/51 |
6 |
12-6072469-G-T |
c.998-27C>A |
- |
IntronicSNV |
- |
8/51 |
6 |
12-6073587-C-T |
c.997+32G>A |
- |
IntronicSNV |
- |
8/51 |
1 |
12-6073619-C-A |
c.997G>T |
p.E333* |
Nonsense |
8/52 |
- |
2 |
12-6073619-C-T |
c.997G>A |
p.E333K |
Missense |
8/52 |
- |
1 |
12-6073622-G-A |
c.994C>T |
p.P332S |
Missense |
8/52 |
- |
3 |
12-6073623-G-T |
c.993C>A |
p.C331* |
Nonsense |
8/52 |
- |
2 |
12-6073624-C-T |
c.992G>A |
p.C331Y |
Missense |
8/52 |
- |
2 |
12-6073629-G-A |
c.987C>T |
p.C329= |
Synonymous |
8/52 |
- |
2 |
12-6073629-G-T |
c.987C>A |
p.C329* |
Nonsense |
8/52 |
- |
4 |
12-6073630-CA-GT |
c.985_986delinsAC |
p.C329T |
Missense |
8/52 |
- |
1 |
12-6073630-C-G |
c.986G>C |
p.C329S |
Missense |
8/52 |
- |
1 |
12-6073631-A-T |
c.985T>A |
p.C329S |
Missense |
8/52 |
- |
1 |
12-6073633-C-T |
c.983G>A |
p.G328D |
Missense |
8/52 |
- |
1 |
12-6073638-CAC-GAT |
c.976_978delinsATC |
p.V326I |
Missense |
8/52 |
- |
1 |
12-6073640-C-A |
c.976G>T |
p.V326L |
Missense |
8/52 |
- |
1 |
12-6073640-C-G |
c.976G>C |
p.V326L |
Missense |
8/52 |
- |
1 |
12-6073641-G-T |
c.975C>A |
p.C325* |
Nonsense |
8/52 |
- |
1 |
12-6073642-C-A |
c.974G>T |
p.C325F |
Missense |
8/52 |
- |
6 |
12-6073645-C-T |
c.971G>A |
p.R324Q |
Missense |
8/52 |
- |
5 |
12-6073646-G-A |
c.970C>T |
p.R324* |
Nonsense |
8/52 |
- |
10 |
12-6073646-G-C |
c.970C>G |
p.R324G |
Missense |
8/52 |
- |
1 |
12-6073654-AC-A |
c.962del |
p.C321Ffs*136 |
Frameshift |
8/52 |
- |
1 |
12-6073656-C-T |
c.960G>A |
p.M320I |
Missense |
8/52 |
- |
1 |
12-6073661-C-A |
c.955G>T |
p.E319* |
Nonsense |
8/52 |
- |
1 |
12-6073662-A-C |
c.954T>G |
p.N318K |
Missense |
8/52 |
- |
5 |
12-6073662-A-G |
c.954T>C |
p.N318= |
Synonymous |
8/52 |
- |
1 |
12-6073662-A-T |
c.954T>A |
p.N318K |
Missense |
8/52 |
- |
16 |
12-6073663-T-C |
c.953A>G |
p.N318S |
Missense |
8/52 |
- |
1 |
12-6073664-T-TA |
c.951_952insT |
p.N318* |
Nonsense |
8/52 |
- |
1 |
12-6073667-AT-A |
c.949del |
p.I317Sfs*140 |
Frameshift |
8/52 |
- |
1 |
12-6073667-T-C |
c.949A>G |
p.I317V |
Missense |
8/52 |
- |
1 |
12-6073670-G-A |
c.946C>T |
p.H316Y |
Missense |
8/52 |
- |
1 |
12-6073671-C-A |
c.945G>T |
p.L315= |
Synonymous |
8/52 |
- |
2 |
12-6073671-C-G |
c.945G>C |
p.L315= |
Synonymous |
8/52 |
- |
2 |
12-6073671-C-T |
c.945G>A |
p.L315= |
Synonymous |
8/52 |
- |
2 |
12-6073673-G-A |
c.943C>T |
p.L315= |
Synonymous |
8/52 |
- |
3 |
12-6073677-C-T |
c.939G>A |
p.Q313= |
Synonymous |
8/52 |
- |
1 |
12-6073680-G-A |
c.936C>T |
p.C312= |
Synonymous |
8/52 |
- |
1 |
12-6073680-G-T |
c.936C>A |
p.C312* |
Nonsense |
8/52 |
- |
2 |
12-6073681-CA-GT |
c.934_935delinsAC |
p.C312T |
Missense |
8/52 |
- |
1 |
12-6073681-GC-G |
c.935del |
p.C312Sfs*145 |
Frameshift |
8/52 |
- |
1 |
12-6073682-A-G |
c.934T>C |
p.C312R |
Missense |
8/52 |
- |
1 |
12-6073683-G-A |
c.933C>T |
p.T311= |
Synonymous |
8/52 |
- |
2 |
12-6073684-G-A |
c.932C>T |
p.T311I |
Missense |
8/52 |
- |
2 |
12-6073684-G-T |
c.932C>A |
p.T311N |
Missense |
8/52 |
- |
1 |
12-6073687-C-T |
c.929G>A |
p.R310K |
Missense |
8/52 |
- |
1 |
12-6073690-G-A |
c.926C>T |
p.A309V |
Missense |
8/52 |
- |
1 |
12-6073691-C-A |
c.925G>T |
p.A309S |
Missense |
8/52 |
- |
1 |
12-6073691-C-T |
c.925G>A |
p.A309T |
Missense |
8/52 |
- |
1 |
12-6073692-G-A |
c.924C>T |
p.C308= |
Synonymous |
8/52 |
- |
3 |
12-6073693-C-A |
c.923G>T |
p.C308F |
Missense |
8/52 |
- |
1 |
12-6073693-CA-GC |
c.922_923delinsGC |
p.C308A |
Missense |
8/52 |
- |
1 |
12-6073693-CA-GT |
c.922_923delinsAC |
p.C308T |
Missense |
8/52 |
- |
1 |
12-6073697-G-A |
c.919C>T |
p.P307S |
Missense |
8/52 |
- |
5 |
12-6073699-G-A |
c.917C>T |
p.S306F |
Missense |
8/52 |
- |
3 |
12-6073699-GA-AG |
c.916_917delinsCT |
p.S306L |
Missense |
8/52 |
- |
1 |
12-6073699-G-C |
c.917C>G |
p.S306C |
Missense |
8/52 |
- |
2 |
12-6073699-G-T |
c.917C>A |
p.S306Y |
Missense |
8/52 |
- |
1 |
12-6073700-A-C |
c.916T>G |
p.S306A |
Missense |
8/52 |
- |
1 |
12-6073702-A-G |
c.914T>C |
p.V305A |
Missense |
8/52 |
- |
1 |
12-6073703-C-T |
c.913G>A |
p.V305M |
Missense |
8/52 |
- |
1 |
12-6073704-A-G |
c.912T>C |
p.C304= |
Synonymous |
8/52 |
- |
1 |
12-6073710-CCT-ATG |
c.904_906delinsCAT |
p.R302H |
Missense |
8/52 |
- |
1 |
12-6073710-C-CCTGTTG |
c.905_906insCAACAG |
p.Y301_R302insSN |
InFrameInsertion |
8/52 |
- |
1 |
12-6073713-A-T |
c.903T>A |
p.Y301* |
Nonsense |
8/52 |
- |
1 |
12-6073714-T-TTAG |
c.901_902insCTA |
p.Y301delinsSN |
MultiAAMissense |
8/52 |
- |
1 |
12-6073723-C-G |
c.893G>C |
p.G298A |
Missense |
8/52 |
- |
1 |
12-6073723-C-T |
c.893G>A |
p.G298D |
Missense |
8/52 |
- |
1 |
12-6073727-C-G |
c.889G>C |
p.A297P |
Missense |
8/52 |
- |
1 |
12-6073727-C-T |
c.889G>A |
p.A297T |
Missense |
8/52 |
- |
1 |
12-6073729-G-A |
c.887C>T |
p.P296L |
Missense |
8/52 |
- |
9 |
12-6073729-GG-AA |
c.886_887delinsTT |
p.P296F |
Missense |
8/52 |
- |
1 |
12-6073731-G-A |
c.885C>T |
p.C295= |
Synonymous |
8/52 |
- |
1 |
12-6073732-CA-GT |
c.883_884delinsAC |
p.C295T |
Missense |
8/52 |
- |
1 |
12-6073735-A-G |
c.881T>C |
p.V294A |
Missense |
8/52 |
- |
1 |
12-6073736-C-T |
c.880G>A |
p.V294M |
Missense |
8/52 |
- |
2 |
12-6073739-G-T |
c.877C>A |
p.P293T |
Missense |
8/52 |
- |
1 |
12-6073737-TG-T |
c.878del |
p.P293Qfs*164 |
Frameshift |
8/52 |
- |
3 |
12-6073786-G-A |
c.875-45C>T |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6073799-A-C |
c.875-58T>G |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6074015-T-C |
c.875-274A>G |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6075321-G-A |
c.874+14C>T |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6075327-C-T |
c.874+8G>A |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6075330-C-T |
c.874+5G>A |
- |
IntronicSNV |
- |
7/51 |
1 |
12-6075334-C-T |
c.874+1G>A |
- |
IntronicSNV |
- |
7/51 |
2 |
12-6075337-C-A |
c.872G>T |
p.C291F |
Missense |
7/52 |
- |
1 |
12-6075338-CA-C |
c.871del |
p.C291Afs*166 |
Frameshift |
7/52 |
- |
1 |
12-6075339-C-T |
c.870G>A |
p.A290= |
Synonymous |
7/52 |
- |
1 |
12-6075340-G-T |
c.869C>A |
p.A290E |
Missense |
7/52 |
- |
1 |
12-6075341-C-A |
c.868G>T |
p.A290S |
Missense |
7/52 |
- |
1 |
12-6075341-C-T |
c.868G>A |
p.A290T |
Missense |
7/52 |
- |
2 |
12-6075342-G-A |
c.867C>T |
p.S289= |
Synonymous |
7/52 |
- |
1 |
12-6075343-CT-AG |
c.865_866inv |
p.S289L |
Missense |
7/52 |
- |
2 |
12-6075343-CT-GG |
c.865_866delinsCC |
p.S289P |
Missense |
7/52 |
- |
1 |
12-6075347-G-A |
c.862C>T |
p.H288Y |
Missense |
7/52 |
- |
2 |
12-6075349-T-C |
c.860A>G |
p.D287G |
Missense |
7/52 |
- |
1 |
12-6075350-C-G |
c.859G>C |
p.D287H |
Missense |
7/52 |
- |
2 |
12-6075351-G-A |
c.858C>T |
p.T286= |
Synonymous |
7/52 |
- |
3 |
12-6075351-G-C |
c.858C>G |
p.T286= |
Synonymous |
7/52 |
- |
2 |
12-6075351-G-T |
c.858C>A |
p.T286= |
Synonymous |
7/52 |
- |
2 |
12-6075352-G-A |
c.857C>T |
p.T286I |
Missense |
7/52 |
- |
1 |
12-6075358-C-A |
c.851G>T |
p.G284V |
Missense |
7/52 |
- |
1 |
12-6075358-C-G |
c.851G>C |
p.G284A |
Missense |
7/52 |
- |
1 |
12-6075358-C-T |
c.851G>A |
p.G284D |
Missense |
7/52 |
- |
1 |
12-6075360-G-A |
c.849C>T |
p.Y283= |
Synonymous |
7/52 |
- |
1 |
12-6075363-C-T |
c.846G>A |
p.L282= |
Synonymous |
7/52 |
- |
1 |
12-6075364-A-G |
c.845T>C |
p.L282P |
Missense |
7/52 |
- |
1 |
12-6075374-C-T |
c.835G>A |
p.G279R |
Missense |
7/52 |
- |
1 |
12-6075375-C-A |
c.834G>T |
p.E278D |
Missense |
7/52 |
- |
1 |
12-6075376-TC-GA |
c.832_833inv |
p.E278S |
Missense |
7/52 |
- |
1 |
12-6075377-C-G |
c.832G>C |
p.E278Q |
Missense |
7/52 |
- |
1 |
12-6075378-C-A |
c.831G>T |
p.Q277H |
Missense |
7/52 |
- |
1 |
12-6075378-C-G |
c.831G>C |
p.Q277H |
Missense |
7/52 |
- |
1 |
12-6075380-G-A |
c.829C>T |
p.Q277* |
Nonsense |
7/52 |
- |
1 |
12-6075385-C-T |
c.824G>A |
p.C275Y |
Missense |
7/52 |
- |
1 |
12-6075385-C-G |
c.824G>C |
p.C275S |
Missense |
7/52 |
- |
4 |
12-6075386-A-G |
c.823T>C |
p.C275R |
Missense |
7/52 |
- |
4 |
12-6075386-A-T |
c.823T>A |
p.C275S |
Missense |
7/52 |
- |
5 |
12-6075389-T-G |
c.820A>C |
p.T274P |
Missense |
7/52 |
- |
1 |
12-6075390-CCG-ACA |
c.817_819delinsTGT |
p.R273C |
Missense |
7/52 |
- |
1 |
12-6075391-C-G |
c.818G>C |
p.R273P |
Missense |
7/52 |
- |
2 |
12-6075391-CG-TT |
c.817_818delinsAA |
p.R273K |
Missense |
7/52 |
- |
1 |
12-6075391-C-T |
c.818G>A |
p.R273Q |
Missense |
7/52 |
- |
5 |
12-6075390-C-A |
c.819G>T |
p.R273= |
Synonymous |
7/52 |
- |
1 |
12-6075390-C-G |
c.819G>C |
p.R273= |
Synonymous |
7/52 |
- |
1 |
12-6075390-C-T |
c.819G>A |
p.R273= |
Synonymous |
7/52 |
- |
1 |
12-6075392-G-A |
c.817C>T |
p.R273W |
Missense |
7/52 |
- |
17 |
12-6075392-G-T |
c.817C>A |
p.R273= |
Synonymous |
7/52 |
- |
1 |
12-6075395-C-A |
c.814G>T |
p.A272S |
Missense |
7/52 |
- |
2 |
12-6075396-G-A |
c.813C>T |
p.Y271= |
Synonymous |
7/52 |
- |
1 |
12-6075396-G-T |
c.813C>A |
p.Y271* |
Nonsense |
7/52 |
- |
2 |
12-6075399-C-A |
c.810G>T |
p.E270D |
Missense |
7/52 |
- |
1 |
12-6075399-C-G |
c.810G>C |
p.E270D |
Missense |
7/52 |
- |
1 |
12-6075399-C-T |
c.810G>A |
p.E270= |
Synonymous |
7/52 |
- |
1 |
12-6075404-G-T |
c.805C>A |
p.L269M |
Missense |
7/52 |
- |
1 |
12-6075397-TACTCCAGGAGGGCAGGGCAGGCGC-T |
c.788_811del |
p.C263_E270del |
InFrameDeletion |
7/52 |
- |
1 |
12-6075408-G-A |
c.801C>T |
p.A267= |
Synonymous |
7/52 |
- |
1 |
12-6075408-G-C |
c.801C>G |
p.A267= |
Synonymous |
7/52 |
- |
1 |
12-6075408-G-T |
c.801C>A |
p.A267= |
Synonymous |
7/52 |
- |
1 |
12-6075410-C-G |
c.799G>C |
p.A267P |
Missense |
7/52 |
- |
1 |
12-6075410-C-T |
c.799G>A |
p.A267T |
Missense |
7/52 |
- |
3 |
12-6075412-G-A |
c.797C>T |
p.P266L |
Missense |
7/52 |
- |
1 |
12-6075415-C-T |
c.794G>A |
p.C265Y |
Missense |
7/52 |
- |
1 |
12-6075416-A-G |
c.793T>C |
p.C265R |
Missense |
7/52 |
- |
2 |
12-6075418-G-A |
c.791C>T |
p.A264V |
Missense |
7/52 |
- |
3 |
12-6075421-CA-GC |
c.787_788delinsGC |
p.C263A |
Missense |
7/52 |
- |
1 |
12-6075421-CA-GT |
c.787_788delinsAC |
p.C263T |
Missense |
7/52 |
- |
1 |
12-6075422-A-C |
c.787T>G |
p.C263G |
Missense |
7/52 |
- |
2 |
12-6075424-T-C |
c.785A>G |
p.E262G |
Missense |
7/52 |
- |
1 |
12-6075430-C-T |
c.779G>A |
p.G260E |
Missense |
7/52 |
- |
1 |
12-6075431-C-T |
c.778G>A |
p.G260R |
Missense |
7/52 |
- |
3 |
12-6075433-CC-GT |
c.775_776delinsAC |
p.G259T |
Missense |
7/52 |
- |
1 |
12-6075428-G-GC |
c.780dup |
p.L261Afs*42 |
Frameshift |
7/52 |
- |
2 |
12-6075436-G-A |
c.773C>T |
p.A258V |
Missense |
7/52 |
- |
1 |
12-6075437-GCAC-G |
c.770_772del |
p.C257_A258delinsS |
MultiAAMissense |
7/52 |
- |
1 |
12-6075444-A-G |
c.765T>C |
p.C255= |
Synonymous |
7/52 |
- |
1 |
12-6075448-A-T |
c.761T>A |
p.L254* |
Nonsense |
7/52 |
- |
1 |
12-6075453-C-A |
c.756G>T |
p.K252N |
Missense |
7/52 |
- |
1 |
12-6075454-T-A |
c.755A>T |
p.K252M |
Missense |
7/52 |
- |
1 |
12-6075454-T-C |
c.755A>G |
p.K252R |
Missense |
7/52 |
- |
1 |
12-6075456-C-A |
c.753G>T |
p.E251D |
Missense |
7/52 |
- |
3 |
12-6075456-C-G |
c.753G>C |
p.E251D |
Missense |
7/52 |
- |
2 |
12-6075461-A-G |
c.748T>C |
p.C250R |
Missense |
7/52 |
- |
1 |
12-6075462-C-A |
c.747G>T |
p.L249= |
Synonymous |
7/52 |
- |
2 |
12-6075462-C-G |
c.747G>C |
p.L249= |
Synonymous |
7/52 |
- |
2 |
12-6075462-C-T |
c.747G>A |
p.L249= |
Synonymous |
7/52 |
- |
2 |
12-6075464-G-A |
c.745C>T |
p.L249= |
Synonymous |
7/52 |
- |
2 |
12-6075463-A-G |
c.746T>C |
p.L249P |
Missense |
7/52 |
- |
1 |
12-6075464-G-C |
c.745C>G |
p.L249V |
Missense |
7/52 |
- |
1 |
12-6075467-C-T |
c.742G>A |
p.A248T |
Missense |
7/52 |
- |
1 |
12-6075468-C-T |
c.741G>A |
p.V247= |
Synonymous |
7/52 |
- |
1 |
12-6075471-AAA-CTT |
c.736_738delinsAAG |
p.F246K |
Missense |
7/52 |
- |
1 |
12-6075472-AA-GC |
c.736_737delinsGC |
p.F246A |
Missense |
7/52 |
- |
1 |
12-6075473-AAAGGCTC-A |
c.730_736del |
p.E244Lfs*211 |
Frameshift |
7/52 |
- |
1 |
12-6075473-A-C |
c.736T>G |
p.F246V |
Missense |
7/52 |
- |
1 |
12-6075474-AAGGCTCG-A |
c.729_735del |
p.E244Lfs*211 |
Frameshift |
7/52 |
- |
1 |
12-6075474-A-C |
c.735T>G |
p.P245= |
Synonymous |
7/52 |
- |
1 |
12-6075474-A-G |
c.735T>C |
p.P245= |
Synonymous |
7/52 |
- |
1 |
12-6075474-A-T |
c.735T>A |
p.P245= |
Synonymous |
7/52 |
- |
1 |
12-6075479-C-G |
c.730G>C |
p.E244Q |
Missense |
7/52 |
- |
1 |
12-6075479-C-T |
c.730G>A |
p.E244K |
Missense |
7/52 |
- |
2 |
12-6075480-G-A |
c.729C>T |
p.P243= |
Synonymous |
7/52 |
- |
4 |
12-6075480-G-C |
c.729C>G |
p.P243= |
Synonymous |
7/52 |
- |
2 |
12-6075480-G-T |
c.729C>A |
p.P243= |
Synonymous |
7/52 |
- |
1 |
12-6075481-G-A |
c.728C>T |
p.P243L |
Missense |
7/52 |
- |
1 |
12-6075482-G-A |
c.727C>T |
p.P243S |
Missense |
7/52 |
- |
3 |
12-6075482-G-T |
c.727C>A |
p.P243T |
Missense |
7/52 |
- |
1 |
12-6075484-T-G |
c.725A>C |
p.D242A |
Missense |
7/52 |
- |
1 |
12-6075485-C-T |
c.724G>A |
p.D242N |
Missense |
7/52 |
- |
1 |
12-6075485-TCCACCA-T |
c.719_724del |
p.L240_D242delinsH |
MultiAAMissense |
7/52 |
- |
1 |
12-6075487-A-C |
c.722T>G |
p.V241G |
Missense |
7/52 |
- |
1 |
12-6075488-C-A |
c.721G>T |
p.V241L |
Missense |
7/52 |
- |
1 |
12-6075494-G-A |
c.715C>T |
p.P239S |
Missense |
7/52 |
- |
1 |
12-6075501-GCG-CTT |
c.706_708delinsAAG |
p.R236K |
Missense |
7/52 |
- |
1 |
12-6075502-C-A |
c.707G>T |
p.R236L |
Missense |
7/52 |
- |
1 |
12-6075502-CG-AA |
c.706_707delinsTT |
p.R236F |
Missense |
7/52 |
- |
1 |
12-6075502-C-T |
c.707G>A |
p.R236H |
Missense |
7/52 |
- |
3 |
12-6075503-G-A |
c.706C>T |
p.R236C |
Missense |
7/52 |
- |
4 |
12-6075503-G-T |
c.706C>A |
p.R236S |
Missense |
7/52 |
- |
1 |
12-6075506-C-G |
c.703G>C |
p.A235P |
Missense |
7/52 |
- |
1 |
12-6075506-C-T |
c.703G>A |
p.A235T |
Missense |
7/52 |
- |
1 |
12-6075507-A-C |
c.702T>G |
p.F234L |
Missense |
7/52 |
- |
1 |
12-6075508-A-T |
c.701T>A |
p.F234Y |
Missense |
7/52 |
- |
1 |
12-6075512-C-A |
c.697G>T |
p.V233L |
Missense |
7/52 |
- |
1 |
12-6075512-C-G |
c.697G>C |
p.V233L |
Missense |
7/52 |
- |
1 |
12-6075513-CG-AA |
c.695_696delinsTT |
p.S232F |
Missense |
7/52 |
- |
1 |
12-6075514-G-A |
c.695C>T |
p.S232L |
Missense |
7/52 |
- |
1 |
12-6075514-GA-CT |
c.694_695delinsAG |
p.S232R |
Missense |
7/52 |
- |
1 |
12-6075515-A-G |
c.694T>C |
p.S232P |
Missense |
7/52 |
- |
1 |
12-6075516-G-A |
c.693C>T |
p.T231= |
Synonymous |
7/52 |
- |
2 |
12-6075516-G-T |
c.693C>A |
p.T231= |
Synonymous |
7/52 |
- |
1 |
12-6075517-G-T |
c.692C>A |
p.T231N |
Missense |
7/52 |
- |
1 |
12-6075519-G-A |
c.690C>T |
p.S230= |
Synonymous |
7/52 |
- |
1 |
12-6075520-CT-AG |
c.688_689inv |
p.S230L |
Missense |
7/52 |
- |
1 |
12-6075522-C-T |
c.687G>A |
p.K229= |
Synonymous |
7/52 |
- |
1 |
12-6075525-C-A |
c.684G>T |
p.L228= |
Synonymous |
7/52 |
- |
2 |
12-6075525-CAG-AAA |
c.682_684delinsTTT |
p.L228F |
Missense |
7/52 |
- |
1 |
12-6075525-C-G |
c.684G>C |
p.L228= |
Synonymous |
7/52 |
- |
2 |
12-6075525-C-T |
c.684G>A |
p.L228= |
Synonymous |
7/52 |
- |
2 |
12-6075527-G-A |
c.682C>T |
p.L228= |
Synonymous |
7/52 |
- |
2 |
12-6075526-A-G |
c.683T>C |
p.L228P |
Missense |
7/52 |
- |
1 |
12-6075535-C-T |
c.674G>A |
p.C225Y |
Missense |
7/52 |
- |
4 |
12-6075536-A-C |
c.673T>G |
p.C225G |
Missense |
7/52 |
- |
1 |
12-6075537-C-T |
c.672G>A |
p.Q224= |
Synonymous |
7/52 |
- |
1 |
12-6075538-T-A |
c.671A>T |
p.Q224L |
Missense |
7/52 |
- |
1 |
12-6075540-C-A |
c.669G>T |
p.E223D |
Missense |
7/52 |
- |
2 |
12-6075540-C-G |
c.669G>C |
p.E223D |
Missense |
7/52 |
- |
1 |
12-6075540-C-T |
c.669G>A |
p.E223= |
Synonymous |
7/52 |
- |
2 |
12-6075542-C-G |
c.667G>C |
p.E223Q |
Missense |
7/52 |
- |
1 |
12-6075543-C-T |
c.666G>A |
p.W222* |
Nonsense |
7/52 |
- |
1 |
12-6075544-C-A |
c.665G>T |
p.W222L |
Missense |
7/52 |
- |
1 |
12-6075544-C-T |
c.665G>A |
p.W222* |
Nonsense |
7/52 |
- |
1 |
12-6076725-C-G |
c.658-1174G>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6076725-C-T |
c.658-1174G>A |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6077501-A-G |
c.658-1950T>C |
- |
IntronicSNV |
- |
6/51 |
5 |
12-6078499-G-T |
c.658-2948C>A |
- |
IntronicSNV |
- |
6/51 |
3 |
12-6084547-G-A |
c.658-8996C>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6085420-C-G |
c.658-9869G>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6085489-T-C |
c.658-9938A>G |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6087017-C-A |
c.657+8443G>T |
- |
IntronicSNV |
- |
6/51 |
2 |
12-6087017-C-T |
c.657+8443G>A |
- |
IntronicSNV |
- |
6/51 |
2 |
12-6087167-C-T |
c.657+8293G>A |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6090148-G-C |
c.657+5312C>G |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6090588-G-A |
c.657+4872C>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6090645-C-CTCT |
c.657+4814_657+4815insAGA |
- |
IntronicInsertion |
- |
6/51 |
1 |
12-6091277-C-G |
c.657+4183G>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6091277-C-T |
c.657+4183G>A |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6092634-T-A |
c.657+2826A>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6092636-T-A |
c.657+2824A>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6092883-G-A |
c.657+2577C>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6092883-G-T |
c.657+2577C>A |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6093652-A-G |
c.657+1808T>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095272-A-G |
c.657+188T>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095295-C-T |
c.657+165G>A |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095372-G-A |
c.657+88C>T |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095449-T-C |
c.657+11A>G |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095449-T-G |
c.657+11A>C |
- |
IntronicSNV |
- |
6/51 |
2 |
12-6095456-C-G |
c.657+4G>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095458-A-G |
c.657+2T>C |
- |
IntronicSNV |
- |
6/51 |
1 |
12-6095460-C-G |
c.657G>C |
p.K219N |
Missense |
6/52 |
- |
1 |
12-6095460-C-T |
c.657G>A |
p.K219= |
Synonymous |
6/52 |
- |
2 |
12-6095463-C-A |
c.654G>T |
p.Q218H |
Missense |
6/52 |
- |
1 |
12-6095465-G-A |
c.652C>T |
p.Q218* |
Nonsense |
6/52 |
- |
1 |
12-6095465-G-T |
c.652C>A |
p.Q218K |
Missense |
6/52 |
- |
1 |
12-6095469-T-C |
c.648A>G |
p.E216= |
Synonymous |
6/52 |
- |
1 |
12-6095469-T-G |
c.648A>C |
p.E216D |
Missense |
6/52 |
- |
1 |
12-6095471-C-T |
c.646G>A |
p.E216K |
Missense |
6/52 |
- |
3 |
12-6095473-C-A |
c.644G>T |
p.G215V |
Missense |
6/52 |
- |
1 |
12-6095473-C-T |
c.644G>A |
p.G215E |
Missense |
6/52 |
- |
1 |
12-6095474-C-T |
c.643G>A |
p.G215R |
Missense |
6/52 |
- |
3 |
12-6095475-A-T |
c.642T>A |
p.S214= |
Synonymous |
6/52 |
- |
1 |
12-6095476-G-A |
c.641C>T |
p.S214F |
Missense |
6/52 |
- |
1 |
12-6095476-G-T |
c.641C>A |
p.S214Y |
Missense |
6/52 |
- |
1 |
12-6095479-G-A |
c.638C>T |
p.S213F |
Missense |
6/52 |
- |
2 |
12-6095481-G-A |
c.636C>T |
p.I212= |
Synonymous |
6/52 |
- |
1 |
12-6095481-G-C |
c.636C>G |
p.I212M |
Missense |
6/52 |
- |
1 |
12-6095481-G-T |
c.636C>A |
p.I212= |
Synonymous |
6/52 |
- |
1 |
12-6095482-A-G |
c.635T>C |
p.I212T |
Missense |
6/52 |
- |
1 |
12-6095485-T-C |
c.632A>G |
p.N211S |
Missense |
6/52 |
- |
1 |
12-6095487-G-C |
c.630C>G |
p.C210W |
Missense |
6/52 |
- |
1 |
12-6095488-CA-GC |
c.628_629delinsGC |
p.C210A |
Missense |
6/52 |
- |
1 |
12-6095488-C-G |
c.629G>C |
p.C210S |
Missense |
6/52 |
- |
1 |
12-6095489-A-T |
c.628T>A |
p.C210S |
Missense |
6/52 |
- |
2 |
12-6095490-T-A |
c.627A>T |
p.S209= |
Synonymous |
6/52 |
- |
2 |
12-6095490-T-C |
c.627A>G |
p.S209= |
Synonymous |
6/52 |
- |
2 |
12-6095490-T-G |
c.627A>C |
p.S209= |
Synonymous |
6/52 |
- |
2 |
12-6095491-G-A |
c.626C>T |
p.S209L |
Missense |
6/52 |
- |
1 |
12-6095491-G-C |
c.626C>G |
p.S209* |
Nonsense |
6/52 |
- |
1 |
12-6095491-G-T |
c.626C>A |
p.S209* |
Nonsense |
6/52 |
- |
1 |
12-6095492-A-T |
c.625T>A |
p.S209T |
Missense |
6/52 |
- |
3 |
12-6095494-CT-GC |
c.622_623delinsGC |
p.S208A |
Missense |
6/52 |
- |
1 |
12-6095497-C-A |
c.620G>T |
p.S207I |
Missense |
6/52 |
- |
1 |
12-6095500-G-A |
c.617C>T |
p.P206L |
Missense |
6/52 |
- |
1 |
12-6095503-G-A |
c.614C>T |
p.P205L |
Missense |
6/52 |
- |
3 |
12-6095504-G-A |
c.613C>T |
p.P205S |
Missense |
6/52 |
- |
2 |
12-6095507-A-G |
c.610T>C |
p.S204P |
Missense |
6/52 |
- |
1 |
12-6095510-C-T |
c.607G>A |
p.A203T |
Missense |
6/52 |
- |
1 |
12-6095511-CCG-ACA |
c.604_606delinsTGT |
p.R202C |
Missense |
6/52 |
- |
1 |
12-6095512-C-G |
c.605G>C |
p.R202P |
Missense |
6/52 |
- |
2 |
12-6095512-CG-GT |
c.604_605delinsAC |
p.R202T |
Missense |
6/52 |
- |
1 |
12-6095512-C-T |
c.605G>A |
p.R202Q |
Missense |
6/52 |
- |
5 |
12-6095513-G-A |
c.604C>T |
p.R202W |
Missense |
6/52 |
- |
5 |
12-6095513-G-T |
c.604C>A |
p.R202= |
Synonymous |
6/52 |
- |
1 |
12-6095516-C-G |
c.601G>C |
p.E201Q |
Missense |
6/52 |
- |
1 |
12-6095518-C-A |
c.599G>T |
p.C200F |
Missense |
6/52 |
- |
1 |
12-6095518-C-T |
c.599G>A |
p.C200Y |
Missense |
6/52 |
- |
1 |
12-6095518-C-CAG |
c.598_599insCT |
p.C200Sfs*30 |
Frameshift |
6/52 |
- |
1 |
12-6095519-A-C |
c.598T>G |
p.C200G |
Missense |
6/52 |
- |
1 |
12-6095519-A-G |
c.598T>C |
p.C200R |
Missense |
6/52 |
- |
1 |
12-6095520-C-A |
c.597G>T |
p.W199C |
Missense |
6/52 |
- |
2 |
12-6095520-C-G |
c.597G>C |
p.W199C |
Missense |
6/52 |
- |
2 |
12-6095520-C-T |
c.597G>A |
p.W199* |
Nonsense |
6/52 |
- |
1 |
12-6095521-C-T |
c.596G>A |
p.W199* |
Nonsense |
6/52 |
- |
1 |
12-6095523-C-G |
c.594G>C |
p.Q198H |
Missense |
6/52 |
- |
1 |
12-6095528-C-T |
c.589G>A |
p.E197K |
Missense |
6/52 |
- |
1 |
12-6095530-CC-GT |
c.586_587delinsAC |
p.G196T |
Missense |
6/52 |
- |
1 |
12-6095530-C-G |
c.587G>C |
p.G196A |
Missense |
6/52 |
- |
1 |
12-6095530-C-T |
c.587G>A |
p.G196E |
Missense |
6/52 |
- |
2 |
12-6095533-C-T |
c.584G>A |
p.S195N |
Missense |
6/52 |
- |
1 |
12-6095533-CT-GC |
c.583_584delinsGC |
p.S195A |
Missense |
6/52 |
- |
4 |
12-6095533-C-CT |
c.583dup |
p.S195Kfs*7 |
Frameshift |
6/52 |
- |
1 |
12-6095535-G-A |
c.582C>T |
p.S194= |
Synonymous |
6/52 |
- |
1 |
12-6095536-C-T |
c.581G>A |
p.S194N |
Missense |
6/52 |
- |
1 |
12-6095536-CT-AG |
c.580_581inv |
p.S194L |
Missense |
6/52 |
- |
1 |
12-6095537-T-C |
c.580A>G |
p.S194G |
Missense |
6/52 |
- |
1 |
12-6095542-G-A |
c.575C>T |
p.A192V |
Missense |
6/52 |
- |
1 |
12-6095543-C-A |
c.574G>T |
p.A192S |
Missense |
6/52 |
- |
1 |
12-6095543-C-T |
c.574G>A |
p.A192T |
Missense |
6/52 |
- |
2 |
12-6095544-C-T |
c.573G>A |
p.W191* |
Nonsense |
6/52 |
- |
2 |
12-6095545-C-T |
c.572G>A |
p.W191* |
Nonsense |
6/52 |
- |
2 |
12-6095546-A-G |
c.571T>C |
p.W191R |
Missense |
6/52 |
- |
1 |
12-6095551-T-C |
c.566A>G |
p.N189S |
Missense |
6/52 |
- |
2 |
12-6095554-G-A |
c.563C>T |
p.A188V |
Missense |
6/52 |
- |
1 |
12-6095554-G-C |
c.563C>G |
p.A188G |
Missense |
6/52 |
- |
1 |
12-6095555-C-T |
c.562G>A |
p.A188T |
Missense |
6/52 |
- |
3 |
12-6095558-A-G |
c.559T>C |
p.F187L |
Missense |
6/52 |
- |
1 |
12-6095559-G-C |
c.558C>G |
p.D186E |
Missense |
6/52 |
- |
1 |
12-6095559-G-T |
c.558C>A |
p.D186E |
Missense |
6/52 |
- |
1 |
12-6095561-C-T |
c.556G>A |
p.D186N |
Missense |
6/52 |
- |
1 |
12-6095562-A-C |
c.555T>G |
p.Y185* |
Nonsense |
6/52 |
- |
1 |
12-6095562-A-T |
c.555T>A |
p.Y185* |
Nonsense |
6/52 |
- |
1 |
12-6095563-T-C |
c.554A>G |
p.Y185C |
Missense |
6/52 |
- |
2 |
12-6095564-A-T |
c.553T>A |
p.Y185N |
Missense |
6/52 |
- |
3 |
12-6095570-C-A |
c.547G>T |
p.D183Y |
Missense |
6/52 |
- |
1 |
12-6095571-C-A |
c.546G>T |
p.S182= |
Synonymous |
6/52 |
- |
1 |
12-6095571-C-G |
c.546G>C |
p.S182= |
Synonymous |
6/52 |
- |
1 |
12-6095571-CG-AA |
c.545_546delinsTT |
p.S182F |
Missense |
6/52 |
- |
1 |
12-6095571-C-T |
c.546G>A |
p.S182= |
Synonymous |
6/52 |
- |
5 |
12-6095572-G-A |
c.545C>T |
p.S182L |
Missense |
6/52 |
- |
3 |
12-6095574-G-T |
c.543C>A |
p.T181= |
Synonymous |
6/52 |
- |
1 |
12-6095575-G-A |
c.542C>T |
p.T181I |
Missense |
6/52 |
- |
3 |
12-6095575-GT-CC |
c.541_542delinsGG |
p.T181G |
Missense |
6/52 |
- |
1 |
12-6095577-CAA-GAT |
c.538_540delinsATC |
p.L180I |
Missense |
6/52 |
- |
1 |
12-6095581-G-A |
c.536C>T |
p.T179I |
Missense |
6/52 |
- |
1 |
12-6095581-GT-CA |
c.535_536delinsTG |
p.T179C |
Missense |
6/52 |
- |
1 |
12-6095584-C-A |
c.533G>T |
p.G178V |
Missense |
6/52 |
- |
1 |
12-6095584-C-G |
c.533G>C |
p.G178A |
Missense |
6/52 |
- |
1 |
12-6095584-C-T |
c.533G>A |
p.G178E |
Missense |
6/52 |
- |
6 |
12-6095586-T-C |
c.533-2A>G |
- |
IntronicSNV |
- |
5/51 |
1 |
12-6095737-A-T |
c.533-153T>A |
- |
IntronicSNV |
- |
5/51 |
2 |
12-6099452-T-C |
c.533-3868A>G |
- |
IntronicSNV |
- |
5/51 |
1 |
12-6099529-C-A |
c.533-3945G>T |
- |
IntronicSNV |
- |
5/51 |
1 |
12-6099529-C-T |
c.533-3945G>A |
- |
IntronicSNV |
- |
5/51 |
1 |
12-6106468-A-G |
c.532+3906T>C |
- |
IntronicSNV |
- |
5/51 |
2 |
12-6106468-A-T |
c.532+3906T>A |
- |
IntronicSNV |
- |
5/51 |
2 |
12-6110374-C-G |
c.532G>C |
p.G178R |
Missense |
5/52 |
- |
1 |
12-6110374-C-T |
c.532G>A |
p.G178R |
Missense |
5/52 |
- |
1 |
12-6110376-T-C |
c.530A>G |
p.E177G |
Missense |
5/52 |
- |
1 |
12-6110379-T-G |
c.527A>C |
p.Q176P |
Missense |
5/52 |
- |
1 |
12-6110383-T-G |
c.523A>C |
p.T175P |
Missense |
5/52 |
- |
1 |
12-6110384-C-A |
c.522G>T |
p.M174I |
Missense |
5/52 |
- |
2 |
12-6110384-C-G |
c.522G>C |
p.M174I |
Missense |
5/52 |
- |
2 |
12-6110384-C-T |
c.522G>A |
p.M174I |
Missense |
5/52 |
- |
2 |
12-6110385-A-G |
c.521T>C |
p.M174T |
Missense |
5/52 |
- |
1 |
12-6110386-T-C |
c.520A>G |
p.M174V |
Missense |
5/52 |
- |
1 |
12-6110390-G-A |
c.516C>T |
p.D172= |
Synonymous |
5/52 |
- |
1 |
12-6110391-T-C |
c.515A>G |
p.D172G |
Missense |
5/52 |
- |
1 |
12-6110392-C-A |
c.514G>T |
p.D172Y |
Missense |
5/52 |
- |
1 |
12-6110392-C-G |
c.514G>C |
p.D172H |
Missense |
5/52 |
- |
1 |
12-6110394-T-G |
c.512A>C |
p.D171A |
Missense |
5/52 |
- |
1 |
12-6110395-C-G |
c.511G>C |
p.D171H |
Missense |
5/52 |
- |
1 |
12-6110398-C-T |
c.508G>A |
p.E170K |
Missense |
5/52 |
- |
4 |
12-6110400-G-A |
c.506C>T |
p.A169V |
Missense |
5/52 |
- |
1 |
12-6110401-C-T |
c.505G>A |
p.A169T |
Missense |
5/52 |
- |
1 |
12-6110402-A-G |
c.504T>C |
p.F168= |
Synonymous |
5/52 |
- |
1 |
12-6110406-A-C |
c.500T>G |
p.I167S |
Missense |
5/52 |
- |
1 |
12-6110406-A-G |
c.500T>C |
p.I167T |
Missense |
5/52 |
- |
1 |
12-6110407-T-G |
c.499A>C |
p.I167L |
Missense |
5/52 |
- |
1 |
12-6110406-ATGT-A |
c.497_499del |
p.N166del |
InFrameDeletion |
5/52 |
- |
1 |
12-6110408-G-T |
c.498C>A |
p.N166K |
Missense |
5/52 |
- |
1 |
12-6110409-T-A |
c.497A>T |
p.N166I |
Missense |
5/52 |
- |
3 |
12-6110409-T-C |
c.497A>G |
p.N166S |
Missense |
5/52 |
- |
1 |
12-6110408-GT-G |
c.497del |
p.N166Tfs*9 |
Frameshift |
5/52 |
- |
1 |
12-6110411-A-G |
c.495T>C |
p.F165= |
Synonymous |
5/52 |
- |
1 |
12-6110413-A-T |
c.493T>A |
p.F165I |
Missense |
5/52 |
- |
1 |
12-6110414-G-C |
c.492C>G |
p.N164K |
Missense |
5/52 |
- |
1 |
12-6110417-G-A |
c.489C>T |
p.G163= |
Synonymous |
5/52 |
- |
1 |
12-6110417-G-C |
c.489C>G |
p.G163= |
Synonymous |
5/52 |
- |
1 |
12-6110417-G-T |
c.489C>A |
p.G163= |
Synonymous |
5/52 |
- |
1 |
12-6110418-C-A |
c.488G>T |
p.G163V |
Missense |
5/52 |
- |
1 |
12-6110418-C-T |
c.488G>A |
p.G163D |
Missense |
5/52 |
- |
1 |
12-6110422-A-C |
c.484T>G |
p.C162G |
Missense |
5/52 |
- |
1 |
12-6110426-C-A |
c.480G>T |
p.G160= |
Synonymous |
5/52 |
- |
1 |
12-6110426-C-G |
c.480G>C |
p.G160= |
Synonymous |
5/52 |
- |
1 |
12-6110426-C-T |
c.480G>A |
p.G160= |
Synonymous |
5/52 |
- |
2 |
12-6110427-C-T |
c.479G>A |
p.G160E |
Missense |
5/52 |
- |
10 |
12-6110428-C-A |
c.478G>T |
p.G160W |
Missense |
5/52 |
- |
4 |
12-6110428-C-G |
c.478G>C |
p.G160R |
Missense |
5/52 |
- |
1 |
12-6110428-C-T |
c.478G>A |
p.G160R |
Missense |
5/52 |
- |
3 |
12-6110429-G-A |
c.477C>T |
p.C159= |
Synonymous |
5/52 |
- |
2 |
12-6110431-A-C |
c.475T>G |
p.C159G |
Missense |
5/52 |
- |
1 |
12-6110431-A-T |
c.475T>A |
p.C159S |
Missense |
5/52 |
- |
1 |
12-6110433-G-A |
c.473C>T |
p.T158I |
Missense |
5/52 |
- |
3 |
12-6110433-GT-CA |
c.472_473delinsTG |
p.T158C |
Missense |
5/52 |
- |
1 |
12-6110435-C-T |
c.471G>A |
p.K157= |
Synonymous |
5/52 |
- |
1 |
12-6110437-T-C |
c.469A>G |
p.K157E |
Missense |
5/52 |
- |
2 |
12-6110438-G-A |
c.468C>T |
p.N156= |
Synonymous |
5/52 |
- |
1 |
12-6110439-T-C |
c.467A>G |
p.N156S |
Missense |
5/52 |
- |
1 |
12-6110441-G-A |
c.465C>T |
p.F155= |
Synonymous |
5/52 |
- |
1 |
12-6110441-G-C |
c.465C>G |
p.F155L |
Missense |
5/52 |
- |
1 |
12-6110441-G-T |
c.465C>A |
p.F155L |
Missense |
5/52 |
- |
1 |
12-6110443-A-G |
c.463T>C |
p.F155L |
Missense |
5/52 |
- |
1 |
12-6110444-G-C |
c.462C>G |
p.Y154* |
Nonsense |
5/52 |
- |
1 |
12-6110444-G-T |
c.462C>A |
p.Y154* |
Nonsense |
5/52 |
- |
1 |
12-6110445-T-G |
c.461A>C |
p.Y154S |
Missense |
5/52 |
- |
1 |
12-6110448-C-T |
c.458G>A |
p.R153K |
Missense |
5/52 |
- |
1 |
12-6110453-TG-AA |
c.452_453delinsTT |
p.S151F |
Missense |
5/52 |
- |
1 |
12-6110457-A-G |
c.449T>C |
p.L150P |
Missense |
5/52 |
- |
6 |
12-6110459-C-G |
c.447G>C |
p.L149= |
Synonymous |
5/52 |
- |
1 |
12-6110460-CAGGACTTGAAAGTTG-C |
c.432_446del |
p.N145_L149del |
InFrameDeletion |
5/52 |
- |
1 |
12-6110464-C-G |
c.442G>C |
p.V148L |
Missense |
5/52 |
- |
1 |
12-6110466-T-C |
c.440A>G |
p.Q147R |
Missense |
5/52 |
- |
1 |
12-6110467-G-A |
c.439C>T |
p.Q147* |
Nonsense |
5/52 |
- |
1 |
12-6110474-G-A |
c.432C>T |
p.G144= |
Synonymous |
5/52 |
- |
1 |
12-6110474-G-C |
c.432C>G |
p.G144= |
Synonymous |
5/52 |
- |
1 |
12-6110474-G-T |
c.432C>A |
p.G144= |
Synonymous |
5/52 |
- |
1 |
12-6110476-C-A |
c.430G>T |
p.G144C |
Missense |
5/52 |
- |
1 |
12-6110476-C-T |
c.430G>A |
p.G144S |
Missense |
5/52 |
- |
4 |
12-6110477-G-A |
c.429C>T |
p.S143= |
Synonymous |
5/52 |
- |
1 |
12-6110476-CGCTGCCATCGATCCTGGCCACAAAGCCATA-C |
c.400_429del |
p.Y134_S143del |
InFrameDeletion |
5/52 |
- |
1 |
12-6110480-G-A |
c.426C>T |
p.G142= |
Synonymous |
5/52 |
- |
3 |
12-6110480-G-C |
c.426C>G |
p.G142= |
Synonymous |
5/52 |
- |
3 |
12-6110480-G-T |
c.426C>A |
p.G142= |
Synonymous |
5/52 |
- |
3 |
12-6110481-C-A |
c.425G>T |
p.G142V |
Missense |
5/52 |
- |
3 |
12-6110481-C-T |
c.425G>A |
p.G142D |
Missense |
5/52 |
- |
3 |
12-6110482-C-T |
c.424G>A |
p.G142S |
Missense |
5/52 |
- |
2 |
12-6110485-C-A |
c.421G>T |
p.D141Y |
Missense |
5/52 |
- |
5 |
12-6110485-C-T |
c.421G>A |
p.D141N |
Missense |
5/52 |
- |
7 |
12-6110488-T-C |
c.418A>G |
p.I140V |
Missense |
5/52 |
- |
1 |
12-6110489-C-T |
c.417G>A |
p.R139= |
Synonymous |
5/52 |
- |
1 |
12-6110491-T-G |
c.415A>C |
p.R139= |
Synonymous |
5/52 |
- |
1 |
12-6110490-CT-GC |
c.415_416delinsGC |
p.R139A |
Missense |
5/52 |
- |
1 |
12-6110491-T-C |
c.415A>G |
p.R139G |
Missense |
5/52 |
- |
1 |
12-6110493-G-A |
c.413C>T |
p.A138V |
Missense |
5/52 |
- |
1 |
12-6110493-G-T |
c.413C>A |
p.A138D |
Missense |
5/52 |
- |
1 |
12-6110494-C-T |
c.412G>A |
p.A138T |
Missense |
5/52 |
- |
2 |
12-6110495-CAC-GAT |
c.409_411delinsATC |
p.V137I |
Missense |
5/52 |
- |
1 |
12-6110495-C-T |
c.411G>A |
p.V137= |
Synonymous |
5/52 |
- |
2 |
12-6110497-C-A |
c.409G>T |
p.V137L |
Missense |
5/52 |
- |
1 |
12-6110497-C-T |
c.409G>A |
p.V137M |
Missense |
5/52 |
- |
1 |
12-6110499-AA-GC |
c.406_407delinsGC |
p.F136A |
Missense |
5/52 |
- |
1 |
12-6110499-A-G |
c.407T>C |
p.F136S |
Missense |
5/52 |
- |
1 |
12-6110498-A-C |
c.408T>G |
p.F136L |
Missense |
5/52 |
- |
1 |
12-6110498-A-T |
c.408T>A |
p.F136L |
Missense |
5/52 |
- |
1 |
12-6110500-A-G |
c.406T>C |
p.F136L |
Missense |
5/52 |
- |
1 |
12-6110504-A-G |
c.402T>C |
p.Y134= |
Synonymous |
5/52 |
- |
1 |
12-6110507-G-A |
c.399C>T |
p.A133= |
Synonymous |
5/52 |
- |
2 |
12-6110507-G-C |
c.399C>G |
p.A133= |
Synonymous |
5/52 |
- |
2 |
12-6110507-G-T |
c.399C>A |
p.A133= |
Synonymous |
5/52 |
- |
1 |
12-6110508-G-A |
c.398C>T |
p.A133V |
Missense |
5/52 |
- |
1 |
12-6110509-C-T |
c.397G>A |
p.A133T |
Missense |
5/52 |
- |
2 |
12-6110510-C-A |
c.396G>T |
p.E132D |
Missense |
5/52 |
- |
2 |
12-6110510-C-G |
c.396G>C |
p.E132D |
Missense |
5/52 |
- |
2 |
12-6110512-C-T |
c.394G>A |
p.E132K |
Missense |
5/52 |
- |
1 |
12-6110514-C-G |
c.392G>C |
p.G131A |
Missense |
5/52 |
- |
1 |
12-6110515-C-A |
c.391G>T |
p.G131C |
Missense |
5/52 |
- |
2 |
12-6110515-C-T |
c.391G>A |
p.G131S |
Missense |
5/52 |
- |
6 |
12-6110516-G-A |
c.390C>T |
p.S130= |
Synonymous |
5/52 |
- |
8 |
12-6110516-G-C |
c.390C>G |
p.S130= |
Synonymous |
5/52 |
- |
1 |
12-6110516-GGA-CTT |
c.388_390delinsAAG |
p.S130K |
Missense |
5/52 |
- |
1 |
12-6110516-G-T |
c.390C>A |
p.S130= |
Synonymous |
5/52 |
- |
1 |
12-6110517-G-A |
c.389C>T |
p.S130F |
Missense |
5/52 |
- |
1 |
12-6110519-C-A |
c.387G>T |
p.L129= |
Synonymous |
5/52 |
- |
3 |
12-6110519-C-G |
c.387G>C |
p.L129= |
Synonymous |
5/52 |
- |
4 |
12-6110519-C-T |
c.387G>A |
p.L129= |
Synonymous |
5/52 |
- |
3 |
12-6110521-G-A |
c.385C>T |
p.L129= |
Synonymous |
5/52 |
- |
3 |
12-6110520-A-G |
c.386T>C |
p.L129P |
Missense |
5/52 |
- |
1 |
12-6110521-G-T |
c.385C>A |
p.L129M |
Missense |
5/52 |
- |
5 |
12-6110522-C-A |
c.384G>T |
p.K128N |
Missense |
5/52 |
- |
1 |
12-6110522-C-G |
c.384G>C |
p.K128N |
Missense |
5/52 |
- |
1 |
12-6110528-AG-A |
c.378del |
p.Y127Tfs*48 |
Frameshift |
5/52 |
- |
1 |
12-6110530-AC-G |
c.375_376delinsC |
p.Y126Tfs*49 |
Frameshift |
5/52 |
- |
1 |
12-6110530-A-G |
c.376T>C |
p.Y126H |
Missense |
5/52 |
- |
2 |
12-6110531-C-A |
c.375G>T |
p.G125= |
Synonymous |
5/52 |
- |
1 |
12-6110534-A-C |
c.372T>G |
p.A124= |
Synonymous |
5/52 |
- |
1 |
12-6110534-A-G |
c.372T>C |
p.A124= |
Synonymous |
5/52 |
- |
1 |
12-6110534-A-T |
c.372T>A |
p.A124= |
Synonymous |
5/52 |
- |
1 |
12-6110535-G-C |
c.371C>G |
p.A124G |
Missense |
5/52 |
- |
1 |
12-6110538-T-C |
c.368A>G |
p.E123G |
Missense |
5/52 |
- |
1 |
12-6110539-C-T |
c.367G>A |
p.E123K |
Missense |
5/52 |
- |
2 |
12-6110540-A-G |
c.366T>C |
p.T122= |
Synonymous |
5/52 |
- |
1 |
12-6110545-C-T |
c.361G>A |
p.E121K |
Missense |
5/52 |
- |
1 |
12-6110546-TAG-ACA |
c.358_360delinsTGT |
p.L120C |
Missense |
5/52 |
- |
2 |
12-6110546-TAG-CCA |
c.358_360delinsTGG |
p.L120W |
Missense |
5/52 |
- |
1 |
12-6110547-A-T |
c.359T>A |
p.L120Q |
Missense |
5/52 |
- |
1 |
12-6110548-G-C |
c.358C>G |
p.L120V |
Missense |
5/52 |
- |
1 |
12-6110551-A-G |
c.355T>C |
p.Y119H |
Missense |
5/52 |
- |
3 |
12-6110553-A-C |
c.353T>G |
p.L118R |
Missense |
5/52 |
- |
1 |
12-6110554-G-A |
c.352C>T |
p.L118= |
Synonymous |
5/52 |
- |
2 |
12-6110555-CCC-GCT |
c.349_351delinsAGC |
p.G117S |
Missense |
5/52 |
- |
1 |
12-6110557-C-G |
c.349G>C |
p.G117R |
Missense |
5/52 |
- |
1 |
12-6110557-C-T |
c.349G>A |
p.G117R |
Missense |
5/52 |
- |
1 |
12-6110558-T-G |
c.348A>C |
p.K116N |
Missense |
5/52 |
- |
1 |
12-6110562-G-A |
c.344C>T |
p.S115F |
Missense |
5/52 |
- |
2 |
12-6110562-GA-AG |
c.343_344delinsCT |
p.S115L |
Missense |
5/52 |
- |
1 |
12-6110565-G-A |
c.341C>T |
p.A114V |
Missense |
5/52 |
- |
2 |
12-6110566-C-G |
c.340G>C |
p.A114P |
Missense |
5/52 |
- |
4 |
12-6110570-G-A |
c.336C>T |
p.P112= |
Synonymous |
5/52 |
- |
1 |
12-6110570-G-C |
c.336C>G |
p.P112= |
Synonymous |
5/52 |
- |
1 |
12-6110570-GG-TT |
c.335_336delinsAA |
p.P112Q |
Missense |
5/52 |
- |
1 |
12-6110570-G-T |
c.336C>A |
p.P112= |
Synonymous |
5/52 |
- |
1 |
12-6110571-G-A |
c.335C>T |
p.P112L |
Missense |
5/52 |
- |
2 |
12-6110571-G-T |
c.335C>A |
p.P112H |
Missense |
5/52 |
- |
1 |
12-6110572-G-A |
c.334C>T |
p.P112S |
Missense |
5/52 |
- |
2 |
12-6110572-G-C |
c.334C>G |
p.P112A |
Missense |
5/52 |
- |
1 |
12-6110573-C-T |
c.333G>A |
p.M111I |
Missense |
5/52 |
- |
1 |
12-6110577-G-T |
c.329C>A |
p.S110Y |
Missense |
5/52 |
- |
1 |
12-6110578-A-T |
c.328T>A |
p.S110T |
Missense |
5/52 |
- |
1 |
12-6110631-G-T |
c.324-49C>A |
- |
IntronicSNV |
- |
4/51 |
1 |
12-6110642-C-T |
c.324-60G>A |
- |
IntronicSNV |
- |
4/51 |
1 |
12-6110750-C-G |
c.323+116G>C |
- |
IntronicSNV |
- |
4/51 |
1 |
12-6110813-G-A |
c.323+53C>T |
- |
IntronicSNV |
- |
4/51 |
1 |
12-6110866-C-T |
c.323G>A |
p.R108K |
Missense |
4/52 |
- |
1 |
12-6110870-G-A |
c.319C>T |
p.Q107* |
Nonsense |
4/52 |
- |
1 |
12-6110872-T-G |
c.317A>C |
p.D106A |
Missense |
4/52 |
- |
1 |
12-6110873-C-T |
c.316G>A |
p.D106N |
Missense |
4/52 |
- |
4 |
12-6110874-C-A |
c.315G>T |
p.G105= |
Synonymous |
4/52 |
- |
1 |
12-6110874-C-G |
c.315G>C |
p.G105= |
Synonymous |
4/52 |
- |
2 |
12-6110874-C-T |
c.315G>A |
p.G105= |
Synonymous |
4/52 |
- |
1 |
12-6110875-C-T |
c.314G>A |
p.G105E |
Missense |
4/52 |
- |
1 |
12-6110876-C-T |
c.313G>A |
p.G105R |
Missense |
4/52 |
- |
1 |
12-6110872-TC-T |
c.316del |
p.D106Tfs*15 |
Frameshift |
4/52 |
- |
1 |
12-6110877-CCT-C |
c.311_312del |
p.Q104Rfs*19 |
Frameshift |
4/52 |
- |
3 |
12-6110877-C-T |
c.312G>A |
p.Q104= |
Synonymous |
4/52 |
- |
2 |
12-6110879-G-C |
c.310C>G |
p.Q104E |
Missense |
4/52 |
- |
1 |
12-6110880-T-A |
c.309A>T |
p.T103= |
Synonymous |
4/52 |
- |
1 |
12-6110880-T-C |
c.309A>G |
p.T103= |
Synonymous |
4/52 |
- |
1 |
12-6110880-T-G |
c.309A>C |
p.T103= |
Synonymous |
4/52 |
- |
1 |
12-6110880-TG-CA |
c.308_309inv |
p.T103M |
Missense |
4/52 |
- |
1 |
12-6110880-TGT-ACA |
c.307_309inv |
p.T103C |
Missense |
4/52 |
- |
1 |
12-6110881-G-T |
c.308C>A |
p.T103K |
Missense |
4/52 |
- |
1 |
12-6110882-T-C |
c.307A>G |
p.T103A |
Missense |
4/52 |
- |
1 |
12-6110885-C-A |
c.304G>T |
p.V102L |
Missense |
4/52 |
- |
1 |
12-6110885-C-T |
c.304G>A |
p.V102M |
Missense |
4/52 |
- |
3 |
12-6110886-CGGTACCA-C |
c.297_303del |
p.N99Kfs*2 |
Frameshift |
4/52 |
- |
1 |
12-6110888-T-C |
c.301A>G |
p.T101A |
Missense |
4/52 |
- |
1 |
12-6110892-ATT-TTG |
c.295_297delinsCAA |
p.N99Q |
Missense |
4/52 |
- |
2 |
12-6110893-T-C |
c.296A>G |
p.N99S |
Missense |
4/52 |
- |
1 |
12-6110897-C-T |
c.292G>A |
p.V98I |
Missense |
4/52 |
- |
1 |
12-6110898-A-G |
c.291T>C |
p.F97= |
Synonymous |
4/52 |
- |
1 |
12-6110905-T-C |
c.284A>G |
p.H95R |
Missense |
4/52 |
- |
1 |
12-6110905-TG-GC |
c.283_284delinsGC |
p.H95A |
Missense |
4/52 |
- |
1 |
12-6110906-G-A |
c.283C>T |
p.H95Y |
Missense |
4/52 |
- |
1 |
12-6110909-T-C |
c.280A>G |
p.I94V |
Missense |
4/52 |
- |
1 |
12-6110914-A-G |
c.275T>C |
p.F92S |
Missense |
4/52 |
- |
2 |
12-6110916-A-G |
c.273T>C |
p.F91= |
Synonymous |
4/52 |
- |
1 |
12-6110917-AA-TC |
c.271_272delinsGA |
p.F91D |
Missense |
4/52 |
- |
1 |
12-6110912-CA-C |
c.276del |
p.F92Lfs*11 |
Frameshift |
4/52 |
- |
1 |
12-6110918-A-C |
c.271T>G |
p.F91V |
Missense |
4/52 |
- |
1 |
12-6110919-T-G |
c.270A>C |
p.E90D |
Missense |
4/52 |
- |
1 |
12-6110920-T-A |
c.269A>T |
p.E90V |
Missense |
4/52 |
- |
1 |
12-6110921-C-A |
c.268G>T |
p.E90* |
Nonsense |
4/52 |
- |
1 |
12-6110921-C-T |
c.268G>A |
p.E90K |
Missense |
4/52 |
- |
3 |
12-6110922-C-T |
c.267G>A |
p.G89= |
Synonymous |
4/52 |
- |
1 |
12-6110923-C-T |
c.266G>A |
p.G89E |
Missense |
4/52 |
- |
2 |
12-6110927-G-C |
c.262C>G |
p.L88V |
Missense |
4/52 |
- |
1 |
12-6110927-G-T |
c.262C>A |
p.L88I |
Missense |
4/52 |
- |
1 |
12-6110929-T-A |
c.260A>T |
p.Y87F |
Missense |
4/52 |
- |
1 |
12-6110929-T-G |
c.260A>C |
p.Y87S |
Missense |
4/52 |
- |
7 |
12-6110930-A-G |
c.259T>C |
p.Y87H |
Missense |
4/52 |
- |
1 |
12-6110932-A-G |
c.257T>C |
p.V86A |
Missense |
4/52 |
- |
1 |
12-6110932-A-T |
c.257T>A |
p.V86E |
Missense |
4/52 |
- |
1 |
12-6110933-C-T |
c.256G>A |
p.V86M |
Missense |
4/52 |
- |
14 |
12-6110934-G-A |
c.255C>T |
p.S85= |
Synonymous |
4/52 |
- |
1 |
12-6110934-G-C |
c.255C>G |
p.S85= |
Synonymous |
4/52 |
- |
1 |
12-6110934-G-T |
c.255C>A |
p.S85= |
Synonymous |
4/52 |
- |
1 |
12-6110935-G-A |
c.254C>T |
p.S85F |
Missense |
4/52 |
- |
4 |
12-6110936-A-G |
c.253T>C |
p.S85P |
Missense |
4/52 |
- |
1 |
12-6110939-G-A |
c.250C>T |
p.L84F |
Missense |
4/52 |
- |
2 |
12-6110942-T-TA |
c.246_247insT |
p.S83* |
Nonsense |
4/52 |
- |
1 |
12-6110943-C-A |
c.246G>T |
p.V82= |
Synonymous |
4/52 |
- |
1 |
12-6110943-C-G |
c.246G>C |
p.V82= |
Synonymous |
4/52 |
- |
1 |
12-6110943-C-T |
c.246G>A |
p.V82= |
Synonymous |
4/52 |
- |
1 |
12-6110945-C-T |
c.244G>A |
p.V82M |
Missense |
4/52 |
- |
1 |
12-6110951-T-A |
c.238A>T |
p.K80* |
Nonsense |
4/52 |
- |
1 |
12-6110953-C-A |
c.236G>T |
p.G79V |
Missense |
4/52 |
- |
1 |
12-6110953-CC-GT |
c.235_236delinsAC |
p.G79T |
Missense |
4/52 |
- |
1 |
12-6110954-C-A |
c.235G>T |
p.G79C |
Missense |
4/52 |
- |
1 |
12-6110958-C-T |
c.231G>A |
p.Q77= |
Synonymous |
4/52 |
- |
1 |
12-6110960-G-A |
c.229C>T |
p.Q77* |
Nonsense |
4/52 |
- |
2 |
12-6110961-G-A |
c.228C>T |
p.F76= |
Synonymous |
4/52 |
- |
1 |
12-6110961-GAA-CTC |
c.226_228delinsGAG |
p.F76E |
Missense |
4/52 |
- |
1 |
12-6110965-T-G |
c.224A>C |
p.D75A |
Missense |
4/52 |
- |
1 |
12-6110966-C-T |
c.223G>A |
p.D75N |
Missense |
4/52 |
- |
2 |
12-6110967-C-T |
c.222G>A |
p.G74= |
Synonymous |
4/52 |
- |
5 |
12-6110968-C-G |
c.221G>C |
p.G74A |
Missense |
4/52 |
- |
4 |
12-6110968-C-T |
c.221G>A |
p.G74E |
Missense |
4/52 |
- |
2 |
12-6116765-G-A |
c.220+4409C>T |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6117683-C-A |
c.220+3491G>T |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6117683-C-T |
c.220+3491G>A |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6118464-A-C |
c.220+2710T>G |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6118464-A-T |
c.220+2710T>A |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6121074-C-T |
c.220+100G>A |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6121122-A-C |
c.220+52T>G |
- |
IntronicSNV |
- |
3/51 |
4 |
12-6121122-A-G |
c.220+52T>C |
- |
IntronicSNV |
- |
3/51 |
6 |
12-6121122-A-T |
c.220+52T>A |
- |
IntronicSNV |
- |
3/51 |
4 |
12-6121154-C-A |
c.220+20G>T |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6121173-C-G |
c.220+1G>C |
- |
IntronicSNV |
- |
3/51 |
1 |
12-6121174-C-T |
c.220G>A |
p.G74R |
Missense |
3/52 |
- |
1 |
12-6121175-CAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCG-C |
c.161_219del |
p.A54Gfs*20 |
Unclassified |
3/52 |
- |
1 |
12-6121181-C-A |
c.213G>T |
p.S71= |
Synonymous |
3/52 |
- |
1 |
12-6121181-C-G |
c.213G>C |
p.S71= |
Synonymous |
3/52 |
- |
1 |
12-6121181-C-T |
c.213G>A |
p.S71= |
Synonymous |
3/52 |
- |
2 |
12-6121182-G-A |
c.212C>T |
p.S71L |
Missense |
3/52 |
- |
2 |
12-6121182-G-T |
c.212C>A |
p.S71* |
Nonsense |
3/52 |
- |
1 |
12-6121184-G-C |
c.210C>G |
p.F70L |
Missense |
3/52 |
- |
2 |
12-6121184-G-T |
c.210C>A |
p.F70L |
Missense |
3/52 |
- |
2 |
12-6121186-A-G |
c.208T>C |
p.F70L |
Missense |
3/52 |
- |
2 |
12-6121188-G-T |
c.206C>A |
p.S69Y |
Missense |
3/52 |
- |
1 |
12-6121189-A-C |
c.205T>G |
p.S69A |
Missense |
3/52 |
- |
1 |
12-6121191-C-A |
c.203G>T |
p.R68L |
Missense |
3/52 |
- |
1 |
12-6121191-CG-GC |
c.202_203delinsGC |
p.R68A |
Missense |
3/52 |
- |
1 |
12-6121191-C-T |
c.203G>A |
p.R68H |
Missense |
3/52 |
- |
7 |
12-6121192-G-A |
c.202C>T |
p.R68C |
Missense |
3/52 |
- |
2 |
12-6121193-T-C |
c.201A>G |
p.K67= |
Synonymous |
3/52 |
- |
1 |
12-6121194-T-C |
c.200A>G |
p.K67R |
Missense |
3/52 |
- |
2 |
12-6121196-C-A |
c.198G>T |
p.Q66H |
Missense |
3/52 |
- |
1 |
12-6121196-C-G |
c.198G>C |
p.Q66H |
Missense |
3/52 |
- |
1 |
12-6121199-G-T |
c.195C>A |
p.C65* |
Nonsense |
3/52 |
- |
1 |
12-6121200-CA-GC |
c.193_194delinsGC |
p.C65A |
Missense |
3/52 |
- |
2 |
12-6121200-CA-GT |
c.193_194delinsAC |
p.C65T |
Missense |
3/52 |
- |
1 |
12-6121200-C-T |
c.194G>A |
p.C65Y |
Missense |
3/52 |
- |
1 |
12-6121202-G-A |
c.192C>T |
p.G64= |
Synonymous |
3/52 |
- |
2 |
12-6121203-C-A |
c.191G>T |
p.G64V |
Missense |
3/52 |
- |
1 |
12-6121203-CC-GT |
c.190_191delinsAC |
p.G64T |
Missense |
3/52 |
- |
1 |
12-6121204-C-A |
c.190G>T |
p.G64C |
Missense |
3/52 |
- |
1 |
12-6121205-C-A |
c.189G>T |
p.G63= |
Synonymous |
3/52 |
- |
1 |
12-6121205-CCC-GCT |
c.187_189delinsAGC |
p.G63S |
Missense |
3/52 |
- |
1 |
12-6121206-C-T |
c.188G>A |
p.G63E |
Missense |
3/52 |
- |
1 |
12-6121202-GC-G |
c.191del |
p.G64Afs*19 |
Frameshift |
3/52 |
- |
1 |
12-6121207-C-T |
c.187G>A |
p.G63R |
Missense |
3/52 |
- |
1 |
12-6121208-TG-GT |
c.185_186delinsAC |
p.A62D |
Missense |
3/52 |
- |
1 |
12-6121209-G-C |
c.185C>G |
p.A62G |
Missense |
3/52 |
- |
1 |
12-6121213-G-A |
c.181C>T |
p.L61= |
Synonymous |
3/52 |
- |
1 |
12-6121213-G-C |
c.181C>G |
p.L61V |
Missense |
3/52 |
- |
1 |
12-6121217-G-A |
c.177C>T |
p.Y59= |
Synonymous |
3/52 |
- |
1 |
12-6121221-CT-GC |
c.172_173delinsGC |
p.S58A |
Missense |
3/52 |
- |
1 |
12-6121223-G-C |
c.171C>G |
p.C57W |
Missense |
3/52 |
- |
1 |
12-6121223-G-T |
c.171C>A |
p.C57* |
Nonsense |
3/52 |
- |
1 |
12-6121224-CA-AG |
c.169_170delinsCT |
p.C57L |
Missense |
3/52 |
- |
2 |
12-6121224-CA-GC |
c.169_170delinsGC |
p.C57A |
Missense |
3/52 |
- |
2 |
12-6121225-A-T |
c.169T>A |
p.C57S |
Missense |
3/52 |
- |
1 |
12-6121228-A-G |
c.166T>C |
p.Y56H |
Missense |
3/52 |
- |
1 |
12-6121231-C-A |
c.163G>T |
p.G55* |
Nonsense |
3/52 |
- |
1 |
12-6121232-C-A |
c.162G>T |
p.A54= |
Synonymous |
3/52 |
- |
2 |
12-6121232-C-G |
c.162G>C |
p.A54= |
Synonymous |
3/52 |
- |
3 |
12-6121232-CGC-GAT |
c.160_162delinsATC |
p.A54I |
Missense |
3/52 |
- |
1 |
12-6121232-C-T |
c.162G>A |
p.A54= |
Synonymous |
3/52 |
- |
2 |
12-6121233-G-A |
c.161C>T |
p.A54V |
Missense |
3/52 |
- |
2 |
12-6121234-C-T |
c.160G>A |
p.A54T |
Missense |
3/52 |
- |
2 |
12-6121235-A-C |
c.159T>G |
p.F53L |
Missense |
3/52 |
- |
1 |
12-6121235-A-T |
c.159T>A |
p.F53L |
Missense |
3/52 |
- |
1 |
12-6121237-A-G |
c.157T>C |
p.F53L |
Missense |
3/52 |
- |
1 |
12-6121238-G-A |
c.156C>T |
p.S52= |
Synonymous |
3/52 |
- |
1 |
12-6121238-G-C |
c.156C>G |
p.S52R |
Missense |
3/52 |
- |
1 |
12-6121238-GCT-TCA |
c.154_156delinsTGA |
p.S52* |
Nonsense |
3/52 |
- |
1 |
12-6121238-G-T |
c.156C>A |
p.S52R |
Missense |
3/52 |
- |
1 |
12-6121240-T-G |
c.154A>C |
p.S52R |
Missense |
3/52 |
- |
1 |
12-6121239-CT-AA |
c.154_155delinsTT |
p.S52F |
Missense |
3/52 |
- |
1 |
12-6121239-C-CTTAAG |
c.154_155insCTTAA |
p.S52Tfs*2 |
Frameshift |
3/52 |
- |
1 |
12-6121243-A-G |
c.151T>C |
p.Y51H |
Missense |
3/52 |
- |
3 |
12-6121243-A-T |
c.151T>A |
p.Y51N |
Missense |
3/52 |
- |
1 |
12-6121244-C-T |
c.150G>A |
p.M50I |
Missense |
3/52 |
- |
2 |
12-6121245-A-G |
c.149T>C |
p.M50T |
Missense |
3/52 |
- |
4 |
12-6121247-G-C |
c.147C>G |
p.S49R |
Missense |
3/52 |
- |
1 |
12-6121247-G-T |
c.147C>A |
p.S49R |
Missense |
3/52 |
- |
2 |
12-6121250-C-A |
c.144G>T |
p.G48= |
Synonymous |
3/52 |
- |
1 |
12-6121250-C-G |
c.144G>C |
p.G48= |
Synonymous |
3/52 |
- |
1 |
12-6121250-C-T |
c.144G>A |
p.G48= |
Synonymous |
3/52 |
- |
1 |
12-6121251-C-T |
c.143G>A |
p.G48E |
Missense |
3/52 |
- |
2 |
12-6121252-C-A |
c.142G>T |
p.G48W |
Missense |
3/52 |
- |
2 |
12-6121252-C-G |
c.142G>C |
p.G48R |
Missense |
3/52 |
- |
2 |
12-6121252-C-T |
c.142G>A |
p.G48R |
Missense |
3/52 |
- |
2 |
12-6121253-A-C |
c.141T>G |
p.D47E |
Missense |
3/52 |
- |
1 |
12-6121253-A-T |
c.141T>A |
p.D47E |
Missense |
3/52 |
- |
1 |
12-6121255-C-G |
c.139G>C |
p.D47H |
Missense |
3/52 |
- |
1 |
12-6121255-C-T |
c.139G>A |
p.D47N |
Missense |
3/52 |
- |
2 |
12-6121256-A-G |
c.138T>C |
p.F46= |
Synonymous |
3/52 |
- |
1 |
12-6121256-A-C |
c.138T>G |
p.F46L |
Missense |
3/52 |
- |
1 |
12-6121256-A-T |
c.138T>A |
p.F46L |
Missense |
3/52 |
- |
1 |
12-6121258-A-G |
c.136T>C |
p.F46L |
Missense |
3/52 |
- |
1 |
12-6121259-G-A |
c.135C>T |
p.T45= |
Synonymous |
3/52 |
- |
2 |
12-6121259-G-C |
c.135C>G |
p.T45= |
Synonymous |
3/52 |
- |
2 |
12-6121259-G-T |
c.135C>A |
p.T45= |
Synonymous |
3/52 |
- |
3 |
12-6121260-G-A |
c.134C>T |
p.T45I |
Missense |
3/52 |
- |
1 |
12-6121261-T-C |
c.133A>G |
p.T45A |
Missense |
3/52 |
- |
2 |
12-6121265-G-A |
c.129C>T |
p.V43= |
Synonymous |
3/52 |
- |
1 |
12-6121265-G-C |
c.129C>G |
p.V43= |
Synonymous |
3/52 |
- |
1 |
12-6121265-G-T |
c.129C>A |
p.V43= |
Synonymous |
3/52 |
- |
1 |
12-6121267-C-T |
c.127G>A |
p.V43I |
Missense |
3/52 |
- |
4 |
12-6121268-G-A |
c.126C>T |
p.F42= |
Synonymous |
3/52 |
- |
2 |
12-6121268-GAA-CTC |
c.124_126delinsGAG |
p.F42E |
Missense |
3/52 |
- |
2 |
12-6121268-G-C |
c.126C>G |
p.F42L |
Missense |
3/52 |
- |
2 |
12-6121271-G-C |
c.123C>G |
p.D41E |
Missense |
3/52 |
- |
1 |
12-6121272-T-G |
c.122A>C |
p.D41A |
Missense |
3/52 |
- |
2 |
12-6121275-C-T |
c.119G>A |
p.S40N |
Missense |
3/52 |
- |
1 |
12-6121277-TCC-GCT |
c.115_117delinsAGC |
p.G39S |
Missense |
3/52 |
- |
1 |
12-6121278-C-A |
c.116G>T |
p.G39V |
Missense |
3/52 |
- |
1 |
12-6121278-CC-TT |
c.115_116delinsAA |
p.G39K |
Missense |
3/52 |
- |
1 |
12-6121278-C-G |
c.116G>C |
p.G39A |
Missense |
3/52 |
- |
1 |
12-6121278-C-T |
c.116G>A |
p.G39E |
Missense |
3/52 |
- |
4 |
12-6121279-C-G |
c.115G>C |
p.G39R |
Missense |
3/52 |
- |
4 |
12-6121279-C-T |
c.115G>A |
p.G39R |
Missense |
3/52 |
- |
5 |
12-6121280-G-A |
c.114C>T |
p.F38= |
Synonymous |
3/52 |
- |
5 |
12-6121281-A-G |
c.113T>C |
p.F38S |
Missense |
3/52 |
- |
1 |
12-6121282-A-T |
c.112T>A |
p.F38I |
Missense |
3/52 |
- |
4 |
12-6121284-A-C |
c.110T>G |
p.L37R |
Missense |
3/52 |
- |
1 |
12-6121286-G-C |
c.108C>G |
p.S36R |
Missense |
3/52 |
- |
1 |
12-6121287-C-G |
c.107G>C |
p.S36T |
Missense |
3/52 |
- |
1 |
12-6121287-C-T |
c.107G>A |
p.S36N |
Missense |
3/52 |
- |
1 |
12-6121287-CT-AA |
c.106_107delinsTT |
p.S36F |
Missense |
3/52 |
- |
1 |
12-6121290-CA-GT |
c.103_104delinsAC |
p.C35T |
Missense |
3/52 |
- |
1 |
12-6121290-CA-TC |
c.103_104delinsGA |
p.C35D |
Missense |
3/52 |
- |
2 |
12-6121290-C-T |
c.104G>A |
p.C35Y |
Missense |
3/52 |
- |
2 |
12-6121292-TC-AT |
c.101_102delinsAT |
p.R34H |
Missense |
3/52 |
- |
1 |
12-6121293-C-T |
c.101G>A |
p.R34Q |
Missense |
3/52 |
- |
5 |
12-6121292-T-A |
c.102A>T |
p.R34= |
Synonymous |
3/52 |
- |
2 |
12-6121292-T-C |
c.102A>G |
p.R34= |
Synonymous |
3/52 |
- |
2 |
12-6121292-T-G |
c.102A>C |
p.R34= |
Synonymous |
3/52 |
- |
2 |
12-6121294-G-A |
c.100C>T |
p.R34* |
Nonsense |
3/52 |
- |
18 |
12-6121294-G-C |
c.100C>G |
p.R34G |
Missense |
3/52 |
- |
3 |
12-6121294-G-T |
c.100C>A |
p.R34= |
Synonymous |
3/52 |
- |
3 |
12-6121295-G-A |
c.99C>T |
p.A33= |
Synonymous |
3/52 |
- |
1 |
12-6121295-GGC-TTG |
c.97_99delinsCAA |
p.A33Q |
Missense |
3/52 |
- |
1 |
12-6121296-G-A |
c.98C>T |
p.A33V |
Missense |
3/52 |
- |
1 |
12-6121297-C-G |
c.97G>C |
p.A33P |
Missense |
3/52 |
- |
2 |
12-6121297-C-T |
c.97G>A |
p.A33T |
Missense |
3/52 |
- |
4 |
12-6121298-C-A |
c.96G>T |
p.T32= |
Synonymous |
3/52 |
- |
1 |
12-6121298-C-G |
c.96G>C |
p.T32= |
Synonymous |
3/52 |
- |
2 |
12-6121298-CGT-ACA |
c.94_96delinsTGT |
p.T32C |
Missense |
3/52 |
- |
1 |
12-6121298-C-T |
c.96G>A |
p.T32= |
Synonymous |
3/52 |
- |
1 |
12-6121299-G-A |
c.95C>T |
p.T32M |
Missense |
3/52 |
- |
3 |
12-6121300-T-C |
c.94A>G |
p.T32A |
Missense |
3/52 |
- |
1 |
12-6121301-G-A |
c.93C>T |
p.S31= |
Synonymous |
3/52 |
- |
1 |
12-6121301-G-C |
c.93C>G |
p.S31= |
Synonymous |
3/52 |
- |
1 |
12-6121301-G-T |
c.93C>A |
p.S31= |
Synonymous |
3/52 |
- |
1 |
12-6121307-CCT-ACA |
c.85_87delinsTGT |
p.R29C |
Missense |
3/52 |
- |
2 |
12-6121308-C-A |
c.86G>T |
p.R29M |
Missense |
3/52 |
- |
1 |
12-6121311-C-T |
c.83G>A |
p.G28D |
Missense |
3/52 |
- |
3 |
12-6121312-C-G |
c.82G>C |
p.G28R |
Missense |
3/52 |
- |
9 |
12-6121312-C-T |
c.82G>A |
p.G28S |
Missense |
3/52 |
- |
2 |
12-6121313-G-A |
c.81C>T |
p.R27= |
Synonymous |
3/52 |
- |
1 |
12-6121313-G-C |
c.81C>G |
p.R27= |
Synonymous |
3/52 |
- |
1 |
12-6121313-G-T |
c.81C>A |
p.R27= |
Synonymous |
3/52 |
- |
1 |
12-6121314-C-T |
c.80G>A |
p.R27H |
Missense |
3/52 |
- |
3 |
12-6121315-G-A |
c.79C>T |
p.R27C |
Missense |
3/52 |
- |
1 |
12-6121318-T-G |
c.76A>C |
p.T26P |
Missense |
3/52 |
- |
1 |
12-6121319-TCC-ACA |
c.73_75delinsTGT |
p.G25C |
Missense |
3/52 |
- |
1 |
12-6121320-CC-TT |
c.73_74delinsAA |
p.G25K |
Missense |
3/52 |
- |
1 |
12-6121320-C-G |
c.74G>C |
p.G25A |
Missense |
3/52 |
- |
1 |
12-6121320-C-T |
c.74G>A |
p.G25E |
Missense |
3/52 |
- |
6 |
12-6121321-C-T |
c.73G>A |
p.G25R |
Missense |
3/52 |
- |
1 |
12-6121322-T-C |
c.72A>G |
p.E24= |
Synonymous |
3/52 |
- |
1 |
12-6121324-C-A |
c.70G>T |
p.E24* |
Nonsense |
3/52 |
- |
1 |
12-6121324-C-T |
c.70G>A |
p.E24K |
Missense |
3/52 |
- |
2 |
12-6121325-TGC-CAT |
c.67_69delinsATG |
p.A23M |
Missense |
3/52 |
- |
1 |
12-6121326-G-C |
c.68C>G |
p.A23G |
Missense |
3/52 |
- |
1 |
12-6121328-A-G |
c.66T>C |
p.C22= |
Synonymous |
3/52 |
- |
1 |
12-6121329-CA-GC |
c.64_65delinsGC |
p.C22A |
Missense |
3/52 |
- |
1 |
12-6121329-C-T |
c.65G>A |
p.C22Y |
Missense |
3/52 |
- |
1 |
12-6121330-A-C |
c.64T>G |
p.C22G |
Missense |
3/52 |
- |
2 |
12-6121330-A-G |
c.64T>C |
p.C22R |
Missense |
3/52 |
- |
1 |
12-6121332-A-G |
c.62T>C |
p.L21P |
Missense |
3/52 |
- |
1 |
12-6121333-G-A |
c.61C>T |
p.L21F |
Missense |
3/52 |
- |
1 |
12-6121333-G-C |
c.61C>G |
p.L21V |
Missense |
3/52 |
- |
1 |
12-6121334-G-C |
c.60C>G |
p.T20= |
Synonymous |
3/52 |
- |
1 |
12-6121335-G-A |
c.59C>T |
p.T20I |
Missense |
3/52 |
- |
2 |
12-6121336-T-C |
c.58A>G |
p.T20A |
Missense |
3/52 |
- |
1 |
12-6121337-CC-GT |
c.56_57delinsAC |
p.G19D |
Missense |
3/52 |
- |
1 |
12-6121337-C-T |
c.57G>A |
p.G19= |
Synonymous |
3/52 |
- |
1 |
12-6121338-C-T |
c.56G>A |
p.G19E |
Missense |
3/52 |
- |
6 |
12-6121657-A-G |
c.56-319T>C |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6122675-T-C |
c.55+467A>G |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6122801-G-C |
c.55+341C>G |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6122857-C-A |
c.55+285G>T |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6122931-C-A |
c.55+211G>T |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123073-T-C |
c.55+69A>G |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123078-G-A |
c.55+64C>T |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123115-G-A |
c.55+27C>T |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123134-G-C |
c.55+8C>G |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123134-G-T |
c.55+8C>A |
- |
IntronicSNV |
- |
2/51 |
1 |
12-6123141-C-CT |
c.55_55+1insA |
p.G19Efs*23 |
SpliceDonorInsertion |
- |
- |
1 |
12-6123142-C-G |
c.55G>C |
p.G19R |
Missense |
2/52 |
- |
2 |
12-6123142-C-T |
c.55G>A |
p.G19R |
Missense |
2/52 |
- |
7 |
12-6123144-G-A |
c.53C>T |
p.P18L |
Missense |
2/52 |
- |
1 |
12-6123145-G-A |
c.52C>T |
p.P18S |
Missense |
2/52 |
- |
1 |
12-6123146-C-T |
c.51G>A |
p.L17= |
Synonymous |
2/52 |
- |
1 |
12-6123148-A-G |
c.49T>C |
p.L17= |
Synonymous |
2/52 |
- |
1 |
12-6123146-C-CA |
c.50dup |
p.L17Ffs*25 |
Frameshift |
2/52 |
- |
1 |
12-6123151-T-C |
c.46A>G |
p.I16V |
Missense |
2/52 |
- |
1 |
12-6123151-T-G |
c.46A>C |
p.I16L |
Missense |
2/52 |
- |
1 |
12-6123152-G-A |
c.45C>T |
p.L15= |
Synonymous |
2/52 |
- |
2 |
12-6123155-GGC-CCA |
c.40_42delinsTGG |
p.A14W |
Missense |
2/52 |
- |
1 |
12-6123157-C-T |
c.40G>A |
p.A14T |
Missense |
2/52 |
- |
1 |
12-6123158-CAG-GAT |
c.37_39delinsATC |
p.L13I |
Missense |
2/52 |
- |
1 |
12-6123159-AG-GC |
c.37_38delinsGC |
p.L13A |
Missense |
2/52 |
- |
2 |
12-6123160-G-A |
c.37C>T |
p.L13= |
Synonymous |
2/52 |
- |
1 |
12-6123160-G-C |
c.37C>G |
p.L13V |
Missense |
2/52 |
- |
1 |
12-6123161-AGC-CCA |
c.34_36delinsTGG |
p.A12W |
Missense |
2/52 |
- |
1 |
12-6123161-AGC-CTT |
c.34_36delinsAAG |
p.A12K |
Missense |
2/52 |
- |
2 |
12-6123161-AG-CT |
c.35_36inv |
p.A12E |
Missense |
2/52 |
- |
1 |
12-6123161-AGC-TTA |
c.34_36delinsTAA |
p.A12* |
Nonsense |
2/52 |
- |
1 |
12-6123161-AGC-TTG |
c.34_36delinsCAA |
p.A12Q |
Missense |
2/52 |
- |
2 |
12-6123162-G-A |
c.35C>T |
p.A12V |
Missense |
2/52 |
- |
1 |
12-6123162-GC-AA |
c.34_35delinsTT |
p.A12F |
Missense |
2/52 |
- |
2 |
12-6123162-G-T |
c.35C>A |
p.A12D |
Missense |
2/52 |
- |
3 |
12-6123163-C-G |
c.34G>C |
p.A12P |
Missense |
2/52 |
- |
1 |
12-6123165-A-G |
c.32T>C |
p.L11P |
Missense |
2/52 |
- |
1 |
12-6123167-C-A |
c.30G>T |
p.L10= |
Synonymous |
2/52 |
- |
1 |
12-6123167-C-G |
c.30G>C |
p.L10= |
Synonymous |
2/52 |
- |
1 |
12-6123167-C-T |
c.30G>A |
p.L10= |
Synonymous |
2/52 |
- |
1 |
12-6123169-G-A |
c.28C>T |
p.L10= |
Synonymous |
2/52 |
- |
1 |
12-6123168-AG-GC |
c.28_29delinsGC |
p.L10A |
Missense |
2/52 |
- |
1 |
12-6123169-G-GC |
c.27dup |
p.L10Afs*32 |
Frameshift |
2/52 |
- |
1 |
12-6123170-CAC-GAT |
c.25_27delinsATC |
p.V9I |
Missense |
2/52 |
- |
1 |
12-6123172-C-A |
c.25G>T |
p.V9L |
Missense |
2/52 |
- |
4 |
12-6123172-C-G |
c.25G>C |
p.V9L |
Missense |
2/52 |
- |
3 |
12-6123172-C-T |
c.25G>A |
p.V9M |
Missense |
2/52 |
- |
1 |
12-6123174-C-T |
c.23G>A |
p.G8E |
Missense |
2/52 |
- |
3 |
12-6123175-C-A |
c.22G>T |
p.G8W |
Missense |
2/52 |
- |
1 |
12-6123175-C-G |
c.22G>C |
p.G8R |
Missense |
2/52 |
- |
1 |
12-6123175-C-T |
c.22G>A |
p.G8R |
Missense |
2/52 |
- |
6 |
12-6123178-C-T |
c.19G>A |
p.A7T |
Missense |
2/52 |
- |
1 |
12-6123182-T-C |
c.15A>G |
p.R5= |
Synonymous |
2/52 |
- |
1 |
12-6123184-T-G |
c.13A>C |
p.R5= |
Synonymous |
2/52 |
- |
1 |
12-6123183-C-G |
c.14G>C |
p.R5T |
Missense |
2/52 |
- |
1 |
12-6123183-C-CT |
c.13dup |
p.R5Kfs*37 |
Frameshift |
2/52 |
- |
1 |
12-6123185-G-A |
c.12C>T |
p.A4= |
Synonymous |
2/52 |
- |
4 |
12-6123188-A-C |
c.9T>G |
p.P3= |
Synonymous |
2/52 |
- |
1 |
12-6123188-A-G |
c.9T>C |
p.P3= |
Synonymous |
2/52 |
- |
1 |
12-6123188-A-T |
c.9T>A |
p.P3= |
Synonymous |
2/52 |
- |
1 |
12-6123189-G-A |
c.8C>T |
p.P3L |
Missense |
2/52 |
- |
1 |
12-6123190-G-A |
c.7C>T |
p.P3S |
Missense |
2/52 |
- |
2 |
12-6123191-A-G |
c.6T>C |
p.I2= |
Synonymous |
2/52 |
- |
6 |
12-6123191-A-T |
c.6T>A |
p.I2= |
Synonymous |
2/52 |
- |
6 |
12-6123192-A-T |
c.5T>A |
p.I2N |
Missense |
2/52 |
- |
1 |
12-6123196-T-C |
c.1A>G |
p.M1? |
Missense |
2/52 |
- |
3 |
12-6123216-G-A |
c.1-20C>T |
- |
IntronicSNV |
- |
1/51 |
1 |
12-6123235-C-A |
c.-39G>T |
- |
IntronicSNV |
1/52 |
- |
1 |
12-6123235-C-G |
c.-39G>C |
- |
IntronicSNV |
1/52 |
- |
1 |
12-6123260-G-A |
c.1-64C>T |
- |
IntronicSNV |
- |
1/51 |
7 |