BRCA2

breast cancer 2, early onset
NM_000059.3 | ENST00000544455
Variants Export table to CSV
cHGVS
pHGVS
gHGVS
Annotation
Splice Change
European (n=7325)
African (n=2559)
Overall Frequency
c.160_162del p.54_54del 13:32893306 AAC inframe deletion 1 0 0.000101
c.429_431del p.143_144del 13:32900241 TGT inframe deletion 1 0 0.000101
c.3116_3118del p.1039_1040del 13:32911608 CTA inframe deletion 1 0 0.000101
c.3854_3856del p.1285_1286del 13:32912346 AAA inframe deletion 0 18 0.00182
c.3859_3861del p.1287_1287del 13:32912351 AAT inframe deletion 2 0 0.000202
c.4037_4042del p.1346_1348del 13:32912529 CTGTTT inframe deletion 1 0 0.000101
c.4279dupT p.T1426fs 13:32912770 > T frameshift insertion 1 0 0.000101
c.4395_4399del p.E1465fs 13:32912887 ATTAC frameshift deletion 1 0 0.000101
c.4634delT p.L1545fs 13:32913126 T frameshift deletion 1 0 0.000101
c.5611_5615del p.S1871fs 13:32914103 AGTAA frameshift deletion 0 1 0.000101
c.5618_5621del p.V1873fs 13:32914110 TAAT frameshift deletion 1 0 0.000101
c.5946delT p.S1982fs 13:32914438 T frameshift deletion 3 0 0.000304
c.7068_7069del p.F2356fs 13:32929058 TC frameshift deletion 1 0 0.000101
c.9048_9053del p.3016_3018del 13:32953981 TAAAAG inframe deletion 0 1 0.000101
c.10094_10095insGAATTATATC p.V3365fs 13:32972744 > GAATTATATC frameshift insertion 8 0 0.000809
c.*14C>T 13:32972921 C > T 3' UTR 0 2 0.000202
c.*31C>T 13:32972938 C > T 3' UTR 2 0 0.000202
c.*32G>A 13:32972939 G > A 3' UTR 1 0 0.000101
c.*91T>C 13:32972998 T > C 3' UTR 1 0 0.000101
c.*98C>T 13:32973005 C > T 3' UTR 1 0 0.000101
c.*104G>A 13:32973011 G > A 3' UTR 1 0 0.000101
c.*111A>C 13:32973018 A > C 3' UTR 0 1 0.000101
c.*121A>T 13:32973028 A > T 3' UTR 0 1 0.000101
c.*131C>T 13:32973038 C > T 3' UTR 2 0 0.000202
c.*135G>A 13:32973042 G > A 3' UTR 0 1 0.000101
c.*157G>C 13:32973064 G > C 3' UTR 1 0 0.000101
c.*166G>A 13:32973073 G > A 3' UTR 1 0 0.000101
c.*199A>G 13:32973106 A > G 3' UTR 0 2 0.000202
c.*355_*356insC 13:32973262 > C 3' UTR 0 1 0.000101
c.*369A>G 13:32973276 A > G 3' UTR 3365 1391 0.481
c.*372_*373insA 13:32973279 > A 3' UTR 8 0 0.000809
c.*373delA 13:32973280 A 3' UTR 5 1 0.000607
c.*382A>G 13:32973289 A > G 3' UTR 2 20 0.00223
c.*387A>G 13:32973294 A > G 3' UTR 1 1 0.000202
c.*397C>A 13:32973304 C > A 3' UTR 21 232 0.0256
c.*398T>C 13:32973305 T > C 3' UTR 1 0 0.000101
c.*409T>C 13:32973316 T > C 3' UTR 0 9 0.000911
c.*524_*528delTTCCT 13:32973431 TTCCT 3' UTR 2 0 0.000202
c.*527_*528insT 13:32973434 > T 3' UTR 0 1 0.000101
c.*528delT 13:32973435 T 3' UTR 1 0 0.000101
c.*551G>A 13:32973458 G > A 3' UTR 1 0 0.000101
c.*552G>A 13:32973459 G > A 3' UTR 0 4 0.000405
c.*562T>A 13:32973469 T > A 3' UTR 0 1 0.000101
c.*616T>C 13:32973523 T > C 3' UTR 0 1 0.000101
c.*617A>G 13:32973524 A > G 3' UTR 1 0 0.000101
c.*650A>C 13:32973557 A > C 3' UTR 1 0 0.000101
c.*733_*734insT 13:32973640 > T 3' UTR 2 0 0.000202
c.*739delC 13:32973646 C 3' UTR 0 1 0.000101
c.*753_*754delCA 13:32973660 CA 3' UTR 1 0 0.000101
c.*753C>T 13:32973660 C > T 3' UTR 9 0 0.000911
c.*818A>G 13:32973725 A > G 3' UTR 1 0 0.000101
c.*828T>C 13:32973735 T > C 3' UTR 1 0 0.000101
c.*829_*830insT 13:32973736 > T 3' UTR 6 10 0.00162
c.*839T>C 13:32973746 T > C 3' UTR 85 6 0.00921
c.*841A>G 13:32973748 A > G 3' UTR 54 1 0.00556
c.*842A>G 13:32973749 A > G 3' UTR 6 66 0.00728
c.*854T>C 13:32973761 T > C 3' UTR 1 0 0.000101
c.*891T>C 13:32973798 T > C 3' UTR 0 3 0.000304
c.-6G>A 13:32890592 G > A 5' UTR 1 0 0.000101
c.-9T>C 13:32890589 T > C 5' UTR 1 0 0.000101
c.-15A>C 13:32890583 A > C 5' UTR 0 15 0.00152
c.-794G>T 13:32889804 G > T 5' UTR donor:1 1 0 0.000101
c.-795G>A 13:32889803 G > A 5' UTR donor:2 1 0 0.000101
c.-806A>G 13:32889792 A > G 5' UTR 2334 567 0.294
c.-810C>T 13:32889788 C > T 5' UTR 1 0 0.000101
c.-847G>A 13:32889751 G > A 5' UTR 1 0 0.000101
c.-877G>T 13:32889721 G > T 5' UTR 1 18 0.00192
c.-912C>T 13:32889686 C > T 5' UTR 1 0 0.000101
c.-925G>C 13:32889673 G > C 5' UTR 2 0 0.000202
c.-929C>T 13:32889669 C > T 5' UTR 14 101 0.0116
c.-932_-922del- 13:32889666 CTGCTGCGCCT 5' UTR 2 0 0.000202
c.-933_-932insCTGCTGCGCCT 13:32889665 > CTGCTGCGCCT 5' UTR 0 3 0.000304
c.-935_-934insCACTGCTGCGC 13:32889663 > CACTGCTGCGC 5' UTR 2 0 0.000202
c.-942C>A 13:32889656 C > A 5' UTR 1 0 0.000101
c.-942C>T 13:32889656 C > T 5' UTR 1 13 0.00142
c.-945A>C 13:32889653 A > C 5' UTR 0 1 0.000101
c.-951A>C 13:32889647 A > C 5' UTR 0 7 0.000708
c.-953A>C 13:32889645 A > C 5' UTR 0 2 0.000202
c.-971C>T 13:32889627 C > T 5' UTR 1 0 0.000101
c.-976G>A 13:32889622 G > A 5' UTR 1 0 0.000101
c.A28G p.T10A 13:32890625 A > G missense 1 0 0.000101
c.A72T p.L24F 13:32893218 A > T missense 1 0 0.000101
c.A125G p.Y42C 13:32893271 A > G missense 39 1 0.00405
c.A179G p.N60S 13:32893325 A > G missense 2 0 0.000202
c.A198G p.Q66Q 13:32893344 A > G silent 2 0 0.000202
c.A322C p.N108H 13:32899218 A > C missense 0 4 0.000405
c.A378G p.Q126Q 13:32899274 A > G silent 0 2 0.000202
c.A440G p.Q147R 13:32900252 A > G missense 0 1 0.000101
c.A467G p.D156G 13:32900279 A > G missense 1 1 0.000202
c.A506G p.K169R 13:32900409 A > G missense 3 0 0.000304
c.A695G p.Y232C 13:32905069 A > G missense 1 0 0.000101
c.A707G p.H236R 13:32905081 A > G missense 1 0 0.000101
c.A735C p.R245S 13:32905109 A > C missense 0 2 0.000202
c.A825T p.K275N 13:32906440 A > T missense 1 0 0.000101
c.A865C p.N289H 13:32906480 A > C missense 485 105 0.0597
c.A887G p.Y296C 13:32906502 A > G missense 0 1 0.000101
c.A956G p.N319S 13:32906571 A > G missense 2 0 0.000202
c.A1040G p.Q347R 13:32906655 A > G missense 1 17 0.00182
c.A1114C p.N372H 13:32906729 A > C missense 3520 662 0.423
c.A1181C p.E394A 13:32906796 A > C missense 1 0 0.000101
c.A1275G p.E425E 13:32906890 A > G silent 8 52 0.00607
c.A1365G p.S455S 13:32906980 A > G silent 484 105 0.0596
c.A1385G p.E462G 13:32907000 A > G missense 6 0 0.000607
c.A1395C p.V465V 13:32907010 A > C silent 7 0 0.000708
c.A1409C p.E470A 13:32907024 A > C missense 1 0 0.000101
c.A1513G p.I505V 13:32907128 A > G missense 2 0 0.000202
c.A1563G p.S521S 13:32907178 A > G silent 1 0 0.000101
c.A1568G p.H523R 13:32907183 A > G missense 0 1 0.000101
c.A1716G p.V572V 13:32907331 A > G silent 0 1 0.000101
c.A1775G p.Y592C 13:32907390 A > G missense 0 1 0.000101
c.A1792G p.T598A 13:32907407 A > G missense 30 2 0.00324
c.A1993G p.T665A 13:32910485 A > G missense 1 0 0.000101
c.A2025G p.T675T 13:32910517 A > G silent 1 1 0.000202
c.A2094G p.L698L 13:32910586 A > G silent 2 0 0.000202
c.A2138T p.Q713L 13:32910630 A > T missense 6 16 0.00223
c.A2145G p.G715G 13:32910637 A > G silent 1 10 0.00111
c.A2208G p.A736A 13:32910700 A > G silent 0 1 0.000101
c.A2233G p.K745E 13:32910725 A > G missense 0 3 0.000304
c.A2459G p.D820G 13:32910951 A > G missense 1 0 0.000101
c.A2538C p.S846S 13:32911030 A > C silent 2 0 0.000202
c.A2561G p.N854S 13:32911053 A > G missense 0 2 0.000202
c.A2616G p.K872K 13:32911108 A > G silent 1 0 0.000101
c.A2698G p.N900D 13:32911190 A > G missense 1 0 0.000101
c.A2716G p.T906A 13:32911208 A > G missense 1 0 0.000101
c.A2878G p.K960E 13:32911370 A > G missense 0 1 0.000101
c.A2933G p.N978S 13:32911425 A > G missense 1 0 0.000101
c.A2942G p.K981R 13:32911434 A > G missense 1 0 0.000101
c.A2944C p.I982L 13:32911436 A > C missense 1 0 0.000101
c.A2946G p.I982M 13:32911438 A > G missense 2 0 0.000202
c.A2957G p.N986S 13:32911449 A > G missense 1 0 0.000101
c.A2960T p.N987I 13:32911452 A > T missense 8 50 0.00587
c.A2971G p.N991D 13:32911463 A > G missense 492 211 0.0711
c.A3073G p.K1025E 13:32911565 A > G missense 4 0 0.000405
c.A3098T p.D1033V 13:32911590 A > T missense 1 0 0.000101
c.A3174G p.K1058K 13:32911666 A > G silent 1 0 0.000101
c.A3218G p.Q1073R 13:32911710 A > G missense 1 0 0.000101
c.A3299T p.N1100I 13:32911791 A > T missense 1 0 0.000101
c.A3310C p.T1104P 13:32911802 A > C missense 0 1 0.000101
c.A3329C p.E1110A 13:32911821 A > C missense 1 1 0.000202
c.A3396G p.K1132K 13:32911888 A > G silent 3810 1022 0.489
c.A3445G p.M1149V 13:32911937 A > G missense 0 3 0.000304
c.A3451G p.I1151V 13:32911943 A > G missense 1 0 0.000101
c.A3539G p.K1180R 13:32912031 A > G missense 1 0 0.000101
c.A3562G p.I1188V 13:32912054 A > G missense 1 0 0.000101
c.A3629T p.D1210V 13:32912121 A > T missense 1 0 0.000101
c.A3682G p.N1228D 13:32912174 A > G missense 1 0 0.000101
c.A3749G p.E1250G 13:32912241 A > G missense 1 0 0.000101
c.A3771G p.P1257P 13:32912263 A > G silent 0 3 0.000304
c.A3839T p.D1280V 13:32912331 A > T missense 1 0 0.000101
c.A3910G p.T1304A 13:32912402 A > G missense 2 0 0.000202
c.A4023C p.S1341S 13:32912515 A > C silent 1 0 0.000101
c.A4071C p.L1357L 13:32912563 A > C silent 1 14 0.00152
c.A4090C p.I1364L 13:32912582 A > C missense 6 82 0.00890
c.A4187G p.Q1396R 13:32912679 A > G missense 4 14 0.00182
c.A4244G p.E1415G 13:32912736 A > G missense 0 1 0.000101
c.A4410C p.I1470I 13:32912902 A > C silent 0 2 0.000202
c.A4563G p.L1521L 13:32913055 A > G silent 7311 2545 0.997
c.A4686G p.Q1562Q 13:32913178 A > G silent 3 0 0.000304
c.A4703G p.K1568R 13:32913195 A > G missense 1 0 0.000101
c.A4784C p.Q1595P 13:32913276 A > C missense 1 0 0.000101
c.A4825G p.T1609A 13:32913317 A > G missense 1 0 0.000101
c.A5020G p.S1674G 13:32913512 A > G missense 1 2 0.000304
c.A5070C p.K1690N 13:32913562 A > C missense 8 0 0.000809
c.A5170G p.I1724V 13:32913662 A > G missense 0 5 0.000506
c.A5225T p.N1742I 13:32913717 A > T missense 1 0 0.000101
c.A5268G p.V1756V 13:32913760 A > G silent 4 0 0.000405
c.A5406C p.Q1802H 13:32913898 A > C missense 0 1 0.000101
c.A5418G p.E1806E 13:32913910 A > G silent 9 142 0.0153
c.A5498G p.N1833S 13:32913990 A > G missense 0 1 0.000101
c.A5575G p.I1859V 13:32914067 A > G missense 0 1 0.000101
c.A5663G p.K1888R 13:32914155 A > G missense 1 0 0.000101
c.A5688G p.A1896A 13:32914180 A > G silent 2 0 0.000202
c.A5726G p.D1909G 13:32914218 A > G missense 1 0 0.000101
c.A5753G p.H1918R 13:32914245 A > G missense 1 0 0.000101
c.A5768C p.D1923A 13:32914260 A > C missense 2 17 0.00192
c.A5785G p.I1929V 13:32914277 A > G missense 1 0 0.000101
c.A5869G p.I1957V 13:32914361 A > G missense 1 0 0.000101
c.A5981G p.Q1994R 13:32914473 A > G missense 1 0 0.000101
c.A6037G p.K2013E 13:32914529 A > G missense 1 0 0.000101
c.A6078G p.T2026T 13:32914570 A > G silent 2 0 0.000202
c.A6125C p.Q2042P 13:32914617 A > C missense 0 1 0.000101
c.A6125G p.Q2042R 13:32914617 A > G missense 0 3 0.000304
c.A6143T p.N2048I 13:32914635 A > T missense 3 0 0.000304
c.A6156G p.S2052S 13:32914648 A > G silent 1 0 0.000101
c.A6225C p.K2075N 13:32914717 A > C missense 1 0 0.000101
c.A6338G p.N2113S 13:32914830 A > G missense 2 0 0.000202
c.A6347G p.H2116R 13:32914839 A > G missense 14 65 0.00799
c.A6509G p.K2170R 13:32915001 A > G missense 1 0 0.000101
c.A6688G p.I2230V 13:32915180 A > G missense 0 1 0.000101
c.A6739G p.S2247G 13:32915231 A > G missense 1 0 0.000101
c.A6748G p.T2250A 13:32915240 A > G missense 1 0 0.000101
c.A6853G p.I2285V 13:32918706 A > G missense 6 0 0.000607
c.A6921G p.S2307S 13:32918774 A > G silent 2 4 0.000607
c.A6935T p.D2312V 13:32918788 A > T missense donor:3 2 0 0.000202
c.A7042C p.N2348H 13:32929032 A > C missense 0 1 0.000101
c.A7242G p.S2414S 13:32929232 A > G silent 2757 958 0.376
c.A7319G p.H2440R 13:32929309 A > G missense 11 178 0.0191
c.A7328G p.D2443G 13:32929318 A > G missense 1 0 0.000101
c.A7413G p.T2471T 13:32929403 A > G silent 1 0 0.000101
c.A7466G p.D2489G 13:32930595 A > G missense 1 0 0.000101
c.A7628G p.Y2543C 13:32931889 A > G missense 1 0 0.000101
c.A7712G p.E2571G 13:32931973 A > G missense 0 1 0.000101
c.A7865G p.N2622S 13:32936719 A > G missense 0 1 0.000101
c.A7882G p.I2628V 13:32936736 A > G missense 0 1 0.000101
c.A7947G p.P2649P 13:32936801 A > G silent 0 2 0.000202
c.A7994G p.D2665G 13:32937333 A > G missense 5 0 0.000506
c.A8032G p.R2678G 13:32937371 A > G missense 1 1 0.000202
c.A8125G p.S2709G 13:32937464 A > G missense 1 1 0.000202
c.A8238C p.T2746T 13:32937577 A > C silent 1 0 0.000101
c.A8460C p.V2820V 13:32944667 A > C silent 17 201 0.0221
c.A8567C p.E2856A 13:32945172 A > C missense 37 2 0.00395
c.A8573G p.Q2858R 13:32945178 A > G missense 1 0 0.000101
c.A8830T p.I2944F 13:32953529 A > T missense 22 227 0.0252
c.A8867C p.E2956A 13:32953566 A > C missense 0 1 0.000101
c.A9104C p.Y3035S 13:32954037 A > C missense 1 0 0.000101
c.A9228T p.G3076G 13:32954254 A > T silent 1 0 0.000101
c.A9275G p.Y3092C 13:32968844 A > G missense 1 0 0.000101
c.A9472G p.T3158A 13:32969041 A > G missense 1 0 0.000101
c.A9770G p.K3257R 13:32972420 A > G missense 0 1 0.000101
c.A9843G p.P3281P 13:32972493 A > G silent 1 7 0.000809
c.A9945G p.K3315K 13:32972595 A > G silent 1 0 0.000101
c.A9976T p.K3326X 13:32972626 A > T nonsense 113 10 0.0124
c.A9986G p.N3329S 13:32972636 A > G missense 0 1 0.000101
c.A10087G p.I3363V 13:32972737 A > G missense 0 1 0.000101
c.A10089G p.I3363M 13:32972739 A > G missense 1 1 0.000202
c.A10220G p.N3407S 13:32972870 A > G missense 1 0 0.000101
c.A10222T p.K3408X 13:32972872 A > T nonsense 1 0 0.000101
c.A10234G p.I3412V 13:32972884 A > G missense 76 509 0.0592
c.C52T p.R18C 13:32890649 C > T missense 1 0 0.000101
c.C136T p.P46S 13:32893282 C > T missense 0 1 0.000101
c.C171T p.Y57Y 13:32893317 C > T silent 1 0 0.000101
c.C175G p.P59A 13:32893321 C > G missense 1 25 0.00263
c.C209T p.S70F 13:32893355 C > T missense 1 0 0.000101
c.C273T p.Y91Y 13:32893419 C > T silent 0 1 0.000101
c.C352T p.R118C 13:32899248 C > T missense 0 1 0.000101
c.C502A p.P168T 13:32900405 C > A missense 1 0 0.000101
c.C620T p.T207I 13:32900739 C > T missense 1 0 0.000101
c.C627A p.L209L 13:32900746 C > A silent 2 0 0.000202
c.C938T p.S313F 13:32906553 C > T missense 0 2 0.000202
c.C978A p.S326R 13:32906593 C > A missense 16 2 0.00182
c.C1151T p.S384F 13:32906766 C > T missense 18 1 0.00192
c.C1218T p.A406A 13:32906833 C > T silent 1 0 0.000101
c.C1460A p.A487E 13:32907075 C > A missense 5 0 0.000506
c.C1567G p.H523D 13:32907182 C > G missense 1 0 0.000101
c.C1631T p.T544I 13:32907246 C > T missense 2 0 0.000202
c.C1694T p.A565V 13:32907309 C > T missense 0 1 0.000101
c.C1832A p.S611X 13:32907447 C > A nonsense 1 0 0.000101
c.C1865T p.A622V 13:32907480 C > T missense 1 0 0.000101
c.C1889T p.T630I 13:32907504 C > T missense 6 0 0.000607
c.C1938T p.S646S 13:32910430 C > T silent 25 0 0.00253
c.C1964G p.P655R 13:32910456 C > G missense 27 1 0.00283
c.C2252A p.T751N 13:32910744 C > A missense 1 0 0.000101
c.C2303T p.T768I 13:32910795 C > T missense 1 0 0.000101
c.C2490G p.N830K 13:32910982 C > G missense 0 1 0.000101
c.C2813A p.A938E 13:32911305 C > A missense 0 3 0.000304
c.C2881G p.Q961E 13:32911373 C > G missense 0 1 0.000101
c.C2927T p.S976F 13:32911419 C > T missense 4 41 0.00455
c.C3211T p.H1071Y 13:32911703 C > T missense 1 0 0.000101
c.C3262T p.P1088S 13:32911754 C > T missense 0 1 0.000101
c.C3301T p.H1101Y 13:32911793 C > T missense 2 0 0.000202
c.C3326T p.A1109V 13:32911818 C > T missense 1 0 0.000101
c.C3453G p.I1151M 13:32911945 C > G missense 1 0 0.000101
c.C3462T p.T1154T 13:32911954 C > T silent 1 1 0.000202
c.C3485T p.A1162V 13:32911977 C > T missense 1 0 0.000101
c.C3515T p.S1172L 13:32912007 C > T missense 7 1 0.000809
c.C3568T p.R1190W 13:32912060 C > T missense 1 0 0.000101
c.C3874T p.L1292L 13:32912366 C > T silent 0 1 0.000101
c.C4061T p.T1354M 13:32912553 C > T missense 2 0 0.000202
c.C4241T p.T1414M 13:32912733 C > T missense 4 41 0.00455
c.C4292T p.A1431V 13:32912784 C > T missense 0 1 0.000101
c.C4314T p.V1438V 13:32912806 C > T silent 1 0 0.000101
c.C4561T p.L1521L 13:32913053 C > T silent 0 1 0.000101
c.C4584T p.S1528S 13:32913076 C > T silent 2 6 0.000809
c.C4670G p.T1557S 13:32913162 C > G missense 1 0 0.000101
c.C4681A p.H1561N 13:32913173 C > A missense 9 51 0.00607
c.C4699T p.L1567L 13:32913191 C > T silent 1 0 0.000101
c.C4725T p.D1575D 13:32913217 C > T silent 1 0 0.000101
c.C4965G p.Y1655X 13:32913457 C > G nonsense 1 0 0.000101
c.C5198T p.S1733F 13:32913690 C > T missense 6 9 0.00152
c.C5199T p.S1733S 13:32913691 C > T silent 87 9 0.00971
c.C5249T p.S1750F 13:32913741 C > T missense 1 0 0.000101
c.C5344A p.Q1782K 13:32913836 C > A missense 0 1 0.000101
c.C5390G p.A1797G 13:32913882 C > G missense 1 0 0.000101
c.C5444T p.T1815I 13:32913936 C > T missense 1 0 0.000101
c.C5455T p.P1819S 13:32913947 C > T missense 3 0 0.000304
c.C5495G p.S1832C 13:32913987 C > G missense 0 2 0.000202
c.C5553G p.I1851M 13:32914045 C > G missense 0 1 0.000101
c.C5634T p.N1878N 13:32914126 C > T silent 1 0 0.000101
c.C5710G p.L1904V 13:32914202 C > G missense 1 1 0.000202
c.C5744T p.T1915M 13:32914236 C > T missense 406 23 0.0434
c.C5975T p.S1992L 13:32914467 C > T missense 1 0 0.000101
c.C5985T p.N1995N 13:32914477 C > T silent 1 0 0.000101
c.C6057T p.N2019N 13:32914549 C > T silent 6 16 0.00223
c.C6100T p.R2034C 13:32914592 C > T missense 85 6 0.00921
c.C6220A p.H2074N 13:32914712 C > A missense 2 46 0.00486
c.C6268T p.H2090Y 13:32914760 C > T missense 1 0 0.000101
c.C6290T p.T2097M 13:32914782 C > T missense 1 0 0.000101
c.C6293T p.S2098F 13:32914785 C > T missense 0 1 0.000101
c.C6322T p.R2108C 13:32914814 C > T missense 1 0 0.000101
c.C6443G p.S2148C 13:32914935 C > G missense 1 0 0.000101
c.C6465T p.L2155L 13:32914957 C > T silent 1 1 0.000202
c.C6567A p.N2189K 13:32915059 C > A missense 1 0 0.000101
c.C6611G p.P2204R 13:32915103 C > G missense 1 0 0.000101
c.C6986T p.P2329L 13:32921012 C > T missense 3 0 0.000304
c.C7010T p.T2337I 13:32929000 C > T missense acceptor:3 1 0 0.000101
c.C7040A p.P2347Q 13:32929030 C > A missense 1 0 0.000101
c.C7150A p.Q2384K 13:32929140 C > A missense 4 30 0.00344
c.C7226T p.P2409L 13:32929216 C > T missense 1 0 0.000101
c.C7504T p.R2502C 13:32930633 C > T missense 0 18 0.00182
c.C7506G p.R2502R 13:32930635 C > G silent 0 1 0.000101
c.C7509G p.V2503V 13:32930638 C > G silent 1 0 0.000101
c.C7544T p.T2515I 13:32930673 C > T missense 12 0 0.00121
c.C7565T p.S2522F 13:32930694 C > T missense 1 0 0.000101
c.C7594T p.P2532S 13:32930723 C > T missense 1 0 0.000101
c.C7601T p.A2534V 13:32930730 C > T missense 0 1 0.000101
c.C7625T p.T2542M 13:32931886 C > T missense 0 1 0.000101
c.C7822G p.P2608A 13:32936676 C > G missense 1 0 0.000101
c.C7915G p.P2639A 13:32936769 C > G missense 1 0 0.000101
c.C8042G p.T2681R 13:32937381 C > G missense 1 0 0.000101
c.C8111T p.S2704F 13:32937450 C > T missense 1 0 0.000101
c.C8386T p.P2796S 13:32944593 C > T missense 1 0 0.000101
c.C8591T p.A2864V 13:32945196 C > T missense 0 1 0.000101
c.C8647T p.P2883S 13:32950821 C > T missense 1 0 0.000101
c.C8662T p.R2888C 13:32950836 C > T missense 1 0 0.000101
c.C8917T p.R2973C 13:32953616 C > T missense 2 1 0.000304
c.C9038T p.T3013I 13:32953971 C > T missense 12 1 0.00132
c.C9116G p.P3039R 13:32954049 C > G missense donor:2 1 0 0.000101
c.C9116T p.P3039L 13:32954049 C > T missense donor:2 1 0 0.000101
c.C9168T p.H3056H 13:32954194 C > T silent 1 0 0.000101
c.C9270G p.F3090L 13:32968839 C > G missense 0 1 0.000101
c.C9285T p.D3095D 13:32968854 C > T silent 1 0 0.000101
c.C9301T p.L3101L 13:32968870 C > T silent 0 1 0.000101
c.C9402T p.G3134G 13:32968971 C > T silent 1 0 0.000101
c.C9581A p.P3194Q 13:32971114 C > A missense 1 0 0.000101
c.C9614T p.A3205V 13:32971147 C > T missense 2 0 0.000202
c.C9616G p.Q3206E 13:32971149 C > G missense 1 0 0.000101
c.C9646T p.L3216L 13:32971179 C > T silent donor:3 0 1 0.000101
c.C9716A p.S3239Y 13:32972366 C > A missense 1 0 0.000101
c.C9924T p.Y3308Y 13:32972574 C > T silent 0 17 0.00172
c.C9949T p.L3317L 13:32972599 C > T silent 0 1 0.000101
c.C10070G p.T3357R 13:32972720 C > G missense 1 0 0.000101
c.C10070T p.T3357I 13:32972720 C > T missense 0 1 0.000101
c.C10095T p.V3365V 13:32972745 C > T silent 8 0 0.000809
c.C10121T p.T3374I 13:32972771 C > T missense 2 11 0.00132
c.C10160G p.T3387S 13:32972810 C > G missense 0 1 0.000101
c.C10202T p.T3401M 13:32972852 C > T missense 1 1 0.000202
c.G223C p.A75P 13:32893369 G > C missense 7 0 0.000708
c.G379T p.A127S 13:32899275 G > T missense 1 0 0.000101
c.G413T p.C138F 13:32899309 G > T missense 0 2 0.000202
c.G521A p.R174H 13:32900640 G > A missense 1 0 0.000101
c.G742A p.A248T 13:32905116 G > A missense 1 3 0.000405
c.G750A p.V250V 13:32905124 G > A silent 2 0 0.000202
c.G800A p.G267E 13:32906415 G > A missense 1 0 0.000101
c.G841A p.D281N 13:32906456 G > A missense 0 3 0.000304
c.G1129A p.E377K 13:32906744 G > A missense 1 0 0.000101
c.G1167A p.P389P 13:32906782 G > A silent 1 0 0.000101
c.G1381A p.E461K 13:32906996 G > A missense 0 1 0.000101
c.G1383A p.E461E 13:32906998 G > A silent 1 0 0.000101
c.G1564C p.G522R 13:32907179 G > C missense 1 0 0.000101
c.G1749A p.L583L 13:32907364 G > A silent 1 0 0.000101
c.G1786C p.D596H 13:32907401 G > C missense 6 1 0.000708
c.G1804A p.G602R 13:32907419 G > A missense 2 0 0.000202
c.G1818A p.P606P 13:32907433 G > A silent 0 1 0.000101
c.G2004A p.R668R 13:32910496 G > A silent 1 0 0.000101
c.G2290C p.E764Q 13:32910782 G > C missense 0 1 0.000101
c.G2416C p.D806H 13:32910908 G > C missense 1 0 0.000101
c.G2596A p.E866K 13:32911088 G > A missense 1 0 0.000101
c.G2680A p.V894I 13:32911172 G > A missense 0 1 0.000101
c.G2803A p.D935N 13:32911295 G > A missense 13 3 0.00162
c.G2803C p.D935H 13:32911295 G > C missense 2 0 0.000202
c.G2883A p.Q961Q 13:32911375 G > A silent 24 2 0.00263
c.G2919A p.S973S 13:32911411 G > A silent 3 0 0.000304
c.G2920C p.D974H 13:32911412 G > C missense 1 0 0.000101
c.G3054A p.K1018K 13:32911546 G > A silent 1 1 0.000202
c.G3417A p.K1139K 13:32911909 G > A silent 2 0 0.000202
c.G3419C p.S1140T 13:32911911 G > C missense 1 0 0.000101
c.G3516A p.S1172S 13:32912008 G > A silent 56 3 0.00597
c.G3581A p.G1194D 13:32912073 G > A missense 1 0 0.000101
c.G3642A p.V1214V 13:32912134 G > A silent 1 0 0.000101
c.G3799A p.D1267N 13:32912291 G > A missense 0 1 0.000101
c.G3869A p.C1290Y 13:32912361 G > A missense 3 67 0.00708
c.G3916A p.V1306I 13:32912408 G > A missense 2 0 0.000202
c.G4043T p.C1348F 13:32912535 G > T missense 1 0 0.000101
c.G4068A p.L1356L 13:32912560 G > A silent 57 3 0.00607
c.G4094A p.C1365Y 13:32912586 G > A missense 1 0 0.000101
c.G4109C p.G1370A 13:32912601 G > C missense 1 0 0.000101
c.G4242T p.T1414T 13:32912734 G > T silent 2 0 0.000202
c.G4258T p.D1420Y 13:32912750 G > T missense 100 6 0.0107
c.G4412T p.R1471I 13:32912904 G > T missense 0 2 0.000202
c.G4585A p.G1529R 13:32913077 G > A missense 7 0 0.000708
c.G4718A p.C1573Y 13:32913210 G > A missense 1 0 0.000101
c.G4741A p.E1581K 13:32913233 G > A missense 1 0 0.000101
c.G4915A p.V1639I 13:32913407 G > A missense 0 1 0.000101
c.G5265A p.E1755E 13:32913757 G > A silent 0 1 0.000101
c.G5312A p.G1771D 13:32913804 G > A missense 3 0 0.000304
c.G5319A p.E1773E 13:32913811 G > A silent 1 0 0.000101
c.G5434A p.E1812K 13:32913926 G > A missense 0 1 0.000101
c.G5554A p.V1852I 13:32914046 G > A missense 1 0 0.000101
c.G5586A p.V1862V 13:32914078 G > A silent 0 1 0.000101
c.G5612A p.S1871N 13:32914104 G > A missense 0 6 0.000607
c.G5626A p.E1876K 13:32914118 G > A missense 0 1 0.000101
c.G5704A p.D1902N 13:32914196 G > A missense 7 109 0.0117
c.G5745A p.T1915T 13:32914237 G > A silent 1 0 0.000101
c.G5782A p.E1928K 13:32914274 G > A missense 1 0 0.000101
c.G5879A p.C1960Y 13:32914371 G > A missense 2 9 0.00111
c.G6024C p.K2008N 13:32914516 G > C missense 0 1 0.000101
c.G6085A p.E2029K 13:32914577 G > A missense 1 0 0.000101
c.G6233T p.G2078V 13:32914725 G > T missense 1 0 0.000101
c.G6323A p.R2108H 13:32914815 G > A missense 16 36 0.00526
c.G6412T p.V2138F 13:32914904 G > T missense 9 67 0.00769
c.G6540C p.L2180F 13:32915032 G > C missense 1 0 0.000101
c.G6803A p.R2268K 13:32915295 G > A missense 0 4 0.000405
c.G6821T p.G2274V 13:32915313 G > T missense 3 0 0.000304
c.G6953A p.R2318Q 13:32920979 G > A missense 1 0 0.000101
c.G7017C p.K2339N 13:32929007 G > C missense 9 142 0.0153
c.G7057C p.G2353R 13:32929047 G > C missense 2 0 0.000202
c.G7090A p.E2364K 13:32929080 G > A missense 1 0 0.000101
c.G7357A p.E2453K 13:32929347 G > A missense 0 1 0.000101
c.G7559A p.R2520Q 13:32930688 G > A missense 1 0 0.000101
c.G7585A p.G2529S 13:32930714 G > A missense 0 1 0.000101
c.G7602C p.A2534A 13:32930731 G > C silent 1 0 0.000101
c.G7626A p.T2542T 13:32931887 G > A silent 8 48 0.00567
c.G8010A p.S2670S 13:32937349 G > A silent 1 0 0.000101
c.G8090A p.S2697N 13:32937429 G > A missense 3 0 0.000304
c.G8149T p.A2717S 13:32937488 G > T missense 20 1 0.00212
c.G8182A p.V2728I 13:32937521 G > A missense 58 3 0.00617
c.G8187A p.K2729K 13:32937526 G > A silent 1 0 0.000101
c.G8187T p.K2729N 13:32937526 G > T missense 1 0 0.000101
c.G8450T p.C2817F 13:32944657 G > T missense 1 0 0.000101
c.G8525A p.R2842H 13:32945130 G > A missense 3 0 0.000304
c.G8539A p.E2847K 13:32945144 G > A missense 0 1 0.000101
c.G8687A p.R2896H 13:32950861 G > A missense 0 1 0.000101
c.G8798C p.R2933T 13:32953497 G > C missense 1 0 0.000101
c.G8850T p.K2950N 13:32953549 G > T missense 10 1 0.00111
c.G8851A p.A2951T 13:32953550 G > A missense 75 7 0.00830
c.G8866C p.E2956Q 13:32953565 G > C missense 0 1 0.000101
c.G8905A p.V2969M 13:32953604 G > A missense 3 1 0.000405
c.G8918A p.R2973H 13:32953617 G > A missense 1 0 0.000101
c.G8972A p.R2991H 13:32953905 G > A missense 2 0 0.000202
c.G8997A p.L2999L 13:32953930 G > A silent 1 0 0.000101
c.G9085A p.A3029T 13:32954018 G > A missense 5 0 0.000506
c.G9087A p.A3029A 13:32954020 G > A silent 1 0 0.000101
c.G9235A p.V3079I 13:32954261 G > A missense 4 10 0.00142
c.G9606C p.P3202P 13:32971139 G > C silent 1 0 0.000101
c.G9613C p.A3205P 13:32971146 G > C missense 2 0 0.000202
c.G9634C p.G3212R 13:32971167 G > C missense 6 16 0.00223
c.G9730A p.V3244I 13:32972380 G > A missense 9 142 0.0153
c.G9876A p.P3292P 13:32972526 G > A silent 0 1 0.000101
c.G9925A p.E3309K 13:32972575 G > A missense 0 9 0.000911
c.G10110A p.R3370R 13:32972760 G > A silent 33 1 0.00344
c.G10154A p.R3385H 13:32972804 G > A missense 0 1 0.000101
c.G10203A p.T3401T 13:32972853 G > A silent 0 1 0.000101
c.T231G p.T77T 13:32893377 T > G silent 3 40 0.00435
c.T241A p.F81I 13:32893387 T > A missense 1 0 0.000101
c.T442C p.C148R 13:32900254 T > C missense 1 0 0.000101
c.T539C p.I180T 13:32900658 T > C missense 1 0 0.000101
c.T663G p.F221L 13:32903611 T > G missense 0 1 0.000101
c.T694C p.Y232H 13:32905068 T > C missense 1 0 0.000101
c.T831G p.N277K 13:32906446 T > G missense 3 0 0.000304
c.T1021C p.C341R 13:32906636 T > C missense 0 1 0.000101
c.T1097C p.L366S 13:32906712 T > C missense 0 1 0.000101
c.T1193C p.L398P 13:32906808 T > C missense 0 1 0.000101
c.T1514C p.I505T 13:32907129 T > C missense 14 0 0.00142
c.T1662G p.C554W 13:32907277 T > G missense 2 1 0.000304
c.T1741C p.S581P 13:32907356 T > C missense 0 1 0.000101
c.T1788C p.D596D 13:32907403 T > C silent 21 134 0.0157
c.T1798C p.Y600H 13:32907413 T > C missense 0 40 0.00405
c.T1814C p.I605T 13:32907429 T > C missense 0 1 0.000101
c.T1911C p.G637G 13:32910403 T > C silent acceptor:2 1 17 0.00182
c.T2229C p.H743H 13:32910721 T > C silent 485 105 0.0597
c.T2274G p.S758R 13:32910766 T > G missense 1 1 0.000202
c.T2438C p.I813T 13:32910930 T > C missense 0 1 0.000101
c.T2589A p.N863K 13:32911081 T > A missense 0 3 0.000304
c.T2786C p.L929S 13:32911278 T > C missense 8 50 0.00587
c.T2926A p.S976T 13:32911418 T > A missense 4 41 0.00455
c.T2987G p.L996R 13:32911479 T > G missense 2 0 0.000202
c.T3264C p.P1088P 13:32911756 T > C silent 9 142 0.0153
c.T3303C p.H1101H 13:32911795 T > C silent 0 1 0.000101
c.T3426A p.F1142L 13:32911918 T > A missense 1 0 0.000101
c.T3503A p.M1168K 13:32911995 T > A missense 0 1 0.000101
c.T3777G p.S1259R 13:32912269 T > G missense 1 0 0.000101
c.T3807C p.V1269V 13:32912299 T > C silent 2439 869 0.335
c.T3834C p.H1278H 13:32912326 T > C silent 1 0 0.000101
c.T4095A p.C1365X 13:32912587 T > A nonsense 1 0 0.000101
c.T4557C p.P1519P 13:32913049 T > C silent 1 0 0.000101
c.T4570G p.F1524V 13:32913062 T > G missense 2 1 0.000304
c.T4614C p.S1538S 13:32913106 T > C silent 2 0 0.000202
c.T4656C p.G1552G 13:32913148 T > C silent 2 1 0.000304
c.T5278G p.S1760A 13:32913770 T > G missense 1 0 0.000101
c.T5379C p.N1793N 13:32913871 T > C silent 1 0 0.000101
c.T5486C p.L1829S 13:32913978 T > C missense 0 1 0.000101
c.T5552G p.I1851S 13:32914044 T > G missense 2 0 0.000202
c.T5640G p.N1880K 13:32914132 T > G missense 3 49 0.00526
c.T5885C p.I1962T 13:32914377 T > C missense 1 0 0.000101
c.T6115A p.L2039I 13:32914607 T > A missense 2 0 0.000202
c.T6317C p.L2106P 13:32914809 T > C missense 3 0 0.000304
c.T6514G p.S2172A 13:32915006 T > G missense 0 1 0.000101
c.T6582C p.I2194I 13:32915074 T > C silent 0 1 0.000101
c.T6633C p.V2211V 13:32915125 T > C silent 0 2 0.000202
c.T7278A p.I2426I 13:32929268 T > A silent 0 2 0.000202
c.T7397C p.V2466A 13:32929387 T > C missense 7311 2546 0.997
c.T7469C p.I2490T 13:32930598 T > C missense 6 22 0.00283
c.T7484C p.I2495T 13:32930613 T > C missense 1 0 0.000101
c.T7684C p.F2562L 13:32931945 T > C missense 1 0 0.000101
c.T7992A p.I2664I 13:32937331 T > A silent 1 0 0.000101
c.T8027C p.M2676T 13:32937366 T > C missense 1 0 0.000101
c.T8060C p.V2687A 13:32937399 T > C missense 0 1 0.000101
c.T8154C p.I2718I 13:32937493 T > C silent 0 8 0.000809
c.T8367C p.Y2789Y 13:32944574 T > C silent 0 1 0.000101
c.T8503C p.S2835P 13:32945108 T > C missense 4 17 0.00212
c.T8723G p.V2908G 13:32950897 T > G missense 4 0 0.000405
c.T8807C p.L2936S 13:32953506 T > C missense 0 1 0.000101
c.T9032C p.L3011P 13:32953965 T > C missense 2 0 0.000202
c.T9242C p.V3081A 13:32954268 T > C missense 1 0 0.000101
c.T9292C p.Y3098H 13:32968861 T > C missense 2 0 0.000202
c.T9353C p.M3118T 13:32968922 T > C missense 0 1 0.000101
c.T9504C p.N3168N 13:32971037 T > C silent acceptor:3 0 1 0.000101
c.T9542G p.M3181R 13:32971075 T > G missense 1 0 0.000101
c.T9592C p.C3198R 13:32971125 T > C missense 4 0 0.000405
c.T9687A p.P3229P 13:32972337 T > A silent 0 2 0.000202
c.T9720C p.V3240V 13:32972370 T > C silent 2 11 0.00132
13:32893207 T > A intronic acceptor:7 41 1 0.00425
13:32900369 T > A intronic acceptor:10 1 0 0.000101
13:32900376 C > T intronic acceptor:3 1 0 0.000101
13:32900617 C > T intronic acceptor:19 4 118 0.0123
13:32905173 T > C intronic donor:6 0 1 0.000101
13:32906398 T > C intronic acceptor:11 2 0 0.000202
13:32918675 T > C intronic acceptor:20 0 1 0.000101
13:32918675 T > A intronic acceptor:20 2 0 0.000202
13:32918681 A > T intronic acceptor:14 1 0 0.000101
13:32918687 C > T intronic acceptor:8 1 0 0.000101
13:32928988 C > A intronic acceptor:10 1 0 0.000101
13:32929431 G > A intronic donor:6 2 12 0.00142
13:32930551 T > G intronic acceptor:14 1 0 0.000101
13:32931874 T > C intronic acceptor:5 1 0 0.000101
13:32932072 C > G intronic donor:6 9 50 0.00597
13:32936646 T > C intronic acceptor:14 5571 2100 0.776
13:32937673 A > C intronic donor:3 0 2 0.000202
13:32945083 A > G intronic acceptor:10 1 0 0.000101
13:32950791 C > G intronic acceptor:16 1 0 0.000101
13:32953435 A > G intronic acceptor:19 0 3 0.000304
13:32953442 A > G intronic acceptor:12 0 1 0.000101
13:32968810 T > C intronic acceptor:16 113 10 0.0124
13:32969073 A > T intronic donor:3 6 0 0.000607
13:32969074 A > G intronic donor:4 1 0 0.000101
13:32971018 T > C intronic acceptor:17 0 2 0.000202
13:32971023 T > G intronic acceptor:12 2 0 0.000202
13:32972279 C > T intronic acceptor:20 0 1 0.000101
13:32972280 G > A intronic acceptor:19 3 0 0.000304