ATM

ataxia telangiectasia mutated
NM_000051.3 | ENST00000278616
Copy number variants Export table to CSV
Region
Class
European (n=7325)
African (n=2559)
Overall Frequency
exon 62-63 deletion 0 1 0.0001012
exon 62-63 duplication 7 0 0.0007082
whole gene deletion 1 0 0.0001012
Variants Export table to CSV
cHGVS
pHGVS
gHGVS
Annotation
Splice Change
European (n=7325)
African (n=2559)
Overall Frequency
c.368_372del p.Y123fs 11:108106433 ATATC frameshift deletion 1 0 0.000101
c.1016delT p.I339fs 11:108117805 T frameshift deletion 0 1 0.000101
c.1065+1G>T 11:108117855 G > T splice donor:1 1 0 0.000101
c.3215_3216insAGT p.E1072delinsEV 11:108143510 > AGT inframe insertion 1 0 0.000101
c.3245_3247del p.H1082del 11:108143539 ATC inframe deletion 1 0 0.000101
c.3801delG p.E1267fs 11:108155008 G frameshift deletion 1 0 0.000101
c.4140dupT p.H1380fs 11:108159733 > T frameshift insertion 1 0 0.000101
c.5497-2A>G 11:108175400 A > G splice acceptor:2 1 0 0.000101
c.5765_5767del p.1922_1923del 11:108180889 CTT inframe deletion 0 1 0.000101
c.5909delA p.Q1970fs 11:108181033 A frameshift deletion 1 0 0.000101
c.5929delT p.F1977fs 11:108183148 T frameshift deletion 1 0 0.000101
c.6813_6814insC p.P2271fs 11:108196790 > C frameshift insertion 0 1 0.000101
c.6996_6999del p.L2332fs 11:108198392 TACA frameshift deletion 0 1 0.000101
c.7668_7671del p.T2556fs 11:108202644 TTTG frameshift deletion 1 0 0.000101
c.8385_8394del p.D2795fs 11:108214065 TTTCAGTGCC frameshift deletion 1 0 0.000101
c.*29C>G 11:108236264 C > G 3' UTR 101 44 0.0147
c.*44A>G 11:108236279 A > G 3' UTR 28 86 0.0115
c.*75A>G 11:108236310 A > G 3' UTR 1 0 0.000101
c.*106A>G 11:108236341 A > G 3' UTR 0 1 0.000101
c.*114G>T 11:108236349 G > T 3' UTR 0 1 0.000101
c.*222C>T 11:108236457 C > T 3' UTR 1 0 0.000101
c.*223G>A 11:108236458 G > A 3' UTR 4 3 0.000708
c.*232G>A 11:108236467 G > A 3' UTR 1 1 0.000202
c.*236C>T 11:108236471 C > T 3' UTR 28 86 0.0115
c.*237G>A 11:108236472 G > A 3' UTR 5 0 0.000506
c.*247T>C 11:108236482 T > C 3' UTR 2 0 0.000202
c.*272G>A 11:108236507 G > A 3' UTR 1 3 0.000405
c.*276T>G 11:108236511 T > G 3' UTR 4 0 0.000405
c.*287C>T 11:108236522 C > T 3' UTR 1 0 0.000101
c.*302_*318delGAGACCAGCCTGGCCAA 11:108236537 GAGACCAGCCTGGCCAA 3' UTR 1 0 0.000101
c.*306C>T 11:108236541 C > T 3' UTR 1 0 0.000101
c.*503_*504delAA 11:108236738 AA 3' UTR 1 0 0.000101
c.*505G>A 11:108236740 G > A 3' UTR 1 0 0.000101
c.*508C>T 11:108236743 C > T 3' UTR 0 2 0.000202
c.*509G>A 11:108236744 G > A 3' UTR 3 0 0.000304
c.*512A>T 11:108236747 A > T 3' UTR 7 1 0.000809
c.*522_*526delAAAAA 11:108236757 AAAAA 3' UTR 1 0 0.000101
c.*530A>G 11:108236765 A > G 3' UTR 0 13 0.00132
c.*534A>C 11:108236769 A > C 3' UTR 0 2 0.000202
c.*536A>C 11:108236771 A > C 3' UTR 1 0 0.000101
c.*537A>C 11:108236772 A > C 3' UTR 4 0 0.000405
c.*540A>C 11:108236775 A > C 3' UTR 2 0 0.000202
c.*542delA 11:108236777 A 3' UTR 1 0 0.000101
c.*550A>C 11:108236785 A > C 3' UTR 1 0 0.000101
c.*551T>C 11:108236786 T > C 3' UTR 625 23 0.0656
c.*577C>G 11:108236812 C > G 3' UTR 1 4 0.000506
c.*578A>C 11:108236813 A > C 3' UTR 0 1 0.000101
c.*629T>C 11:108236864 T > C 3' UTR 1 0 0.000101
c.*643_*644insT 11:108236878 > T 3' UTR 1 0 0.000101
c.*643A>G 11:108236878 A > G 3' UTR 3 0 0.000304
c.*672_*676delATTCT 11:108236907 ATTCT 3' UTR 5 0 0.000506
c.*672A>C 11:108236907 A > C 3' UTR 1 0 0.000101
c.*677A>G 11:108236912 A > G 3' UTR 0 3 0.000304
c.*681_*684delTCTT 11:108236916 TCTT 3' UTR 0 1 0.000101
c.*683T>C 11:108236918 T > C 3' UTR 1 0 0.000101
c.*684T>G 11:108236919 T > G 3' UTR 19 180 0.0201
c.*712A>G 11:108236947 A > G 3' UTR 7 0 0.000708
c.*765T>A 11:108237000 T > A 3' UTR 1 0 0.000101
c.*779T>G 11:108237014 T > G 3' UTR 96 42 0.0140
c.*801C>G 11:108237036 C > G 3' UTR 1 0 0.000101
c.*819C>G 11:108237054 C > G 3' UTR 1 0 0.000101
c.*850C>G 11:108237085 C > G 3' UTR 1 0 0.000101
c.*857C>T 11:108237092 C > T 3' UTR 1 0 0.000101
c.*859G>T 11:108237094 G > T 3' UTR 2 4 0.000607
c.*914A>C 11:108237149 A > C 3' UTR 4 0 0.000405
c.*971C>T 11:108237206 C > T 3' UTR 2 1 0.000304
c.*981A>G 11:108237216 A > G 3' UTR 1 0 0.000101
c.*1009C>T 11:108237244 C > T 3' UTR 1 0 0.000101
c.*1021T>A 11:108237256 T > A 3' UTR 2 0 0.000202
c.*1067A>G 11:108237302 A > G 3' UTR 1 0 0.000101
c.*1184_*1185insTGAT 11:108237419 > TGAT 3' UTR 2 1 0.000304
c.*1209_*1210insCAAA 11:108237444 > CAAA 3' UTR 1 0 0.000101
c.*1220_*1222delTCC 11:108237455 TCC 3' UTR 8 6 0.00142
c.*1221C>T 11:108237456 C > T 3' UTR 1 0 0.000101
c.*1382A>G 11:108237617 A > G 3' UTR 1 2 0.000304
c.*1424A>G 11:108237659 A > G 3' UTR 1 0 0.000101
c.*1556T>C 11:108237791 T > C 3' UTR 1 0 0.000101
c.*1571C>T 11:108237806 C > T 3' UTR 3 0 0.000304
c.*1587_*1589delCTC 11:108237822 CTC 3' UTR 2 0 0.000202
c.*1640C>T 11:108237875 C > T 3' UTR 1 0 0.000101
c.*1641G>A 11:108237876 G > A 3' UTR 2 5 0.000708
c.*1646_*1647insT 11:108237881 > T 3' UTR 0 1 0.000101
c.*1653G>A 11:108237888 G > A 3' UTR 1 0 0.000101
c.*1669C>T 11:108237904 C > T 3' UTR 1 0 0.000101
c.*1670G>A 11:108237905 G > A 3' UTR 2 0 0.000202
c.*1680C>T 11:108237915 C > T 3' UTR 2 0 0.000202
c.*1756G>A 11:108237991 G > A 3' UTR 1 0 0.000101
c.*1770C>T 11:108238005 C > T 3' UTR 2 0 0.000202
c.*1774C>T 11:108238009 C > T 3' UTR 0 1 0.000101
c.*1820_*1821insT 11:108238055 > T 3' UTR 3 0 0.000304
c.*1832A>C 11:108238067 A > C 3' UTR 0 1 0.000101
c.*1844delG 11:108238079 G 3' UTR 0 1 0.000101
c.*1844G>T 11:108238079 G > T 3' UTR 3 0 0.000304
c.*1872_*1873delTC 11:108238107 TC 3' UTR 1 0 0.000101
c.*1882C>G 11:108238117 C > G 3' UTR 27 299 0.0330
c.*1903G>A 11:108238138 G > A 3' UTR 2 40 0.00425
c.*1909T>C 11:108238144 T > C 3' UTR 1 0 0.000101
c.*1921T>C 11:108238156 T > C 3' UTR 0 1 0.000101
c.*1949C>G 11:108238184 C > G 3' UTR 1 0 0.000101
c.*1960T>C 11:108238195 T > C 3' UTR 0 4 0.000405
c.*1975A>G 11:108238210 A > G 3' UTR 1 0 0.000101
c.*1982A>G 11:108238217 A > G 3' UTR 2 0 0.000202
c.*2014G>A 11:108238249 G > A 3' UTR 2 0 0.000202
c.*2036T>C 11:108238271 T > C 3' UTR 0 2 0.000202
c.*2064C>T 11:108238299 C > T 3' UTR 0 1 0.000101
c.*2070C>T 11:108238305 C > T 3' UTR 0 1 0.000101
c.*2071G>A 11:108238306 G > A 3' UTR 1 0 0.000101
c.*2080C>A 11:108238315 C > A 3' UTR 1 0 0.000101
c.*2080C>T 11:108238315 C > T 3' UTR 39 112 0.0153
c.*2095G>A 11:108238330 G > A 3' UTR 2 0 0.000202
c.*2153G>A 11:108238388 G > A 3' UTR 7 1 0.000809
c.*2158T>C 11:108238393 T > C 3' UTR 0 1 0.000101
c.*2167delT 11:108238402 T 3' UTR 2 1 0.000304
c.*2173A>G 11:108238408 A > G 3' UTR 0 1 0.000101
c.*2182A>T 11:108238417 A > T 3' UTR 0 1 0.000101
c.*2187T>C 11:108238422 T > C 3' UTR 1 0 0.000101
c.*2218C>T 11:108238453 C > T 3' UTR 1 0 0.000101
c.*2224C>T 11:108238459 C > T 3' UTR 1 0 0.000101
c.*2241T>C 11:108238476 T > C 3' UTR 0 1 0.000101
c.*2289T>C 11:108238524 T > C 3' UTR 3 39 0.00425
c.*2334C>T 11:108238569 C > T 3' UTR 0 7 0.000708
c.*2362T>C 11:108238597 T > C 3' UTR 0 8 0.000809
c.*2371G>A 11:108238606 G > A 3' UTR 0 1 0.000101
c.*2386T>C 11:108238621 T > C 3' UTR 1 1 0.000202
c.*2451G>A 11:108238686 G > A 3' UTR 0 3 0.000304
c.*2452A>G 11:108238687 A > G 3' UTR 0 1 0.000101
c.*2479G>A 11:108238714 G > A 3' UTR 4 0 0.000405
c.*2511_*2512delCT 11:108238746 CT 3' UTR 1 0 0.000101
c.*2516T>A 11:108238751 T > A 3' UTR 1 0 0.000101
c.*2540_*2542delAAC 11:108238775 AAC 3' UTR 2 1 0.000304
c.*2575T>A 11:108238810 T > A 3' UTR 1 0 0.000101
c.*2575T>C 11:108238810 T > C 3' UTR 1 0 0.000101
c.*2607T>C 11:108238842 T > C 3' UTR 11 0 0.00111
c.*2608delA 11:108238843 A 3' UTR 0 3 0.000304
c.*2616G>A 11:108238851 G > A 3' UTR 2 0 0.000202
c.*2706T>G 11:108238941 T > G 3' UTR 1 0 0.000101
c.*2720T>G 11:108238955 T > G 3' UTR 1 2 0.000304
c.*2755T>C 11:108238990 T > C 3' UTR 0 1 0.000101
c.*2756T>C 11:108238991 T > C 3' UTR 1 0 0.000101
c.*2760G>A 11:108238995 G > A 3' UTR 1 0 0.000101
c.*2774C>G 11:108239009 C > G 3' UTR 1 0 0.000101
c.*2838T>C 11:108239073 T > C 3' UTR 1 0 0.000101
c.*2842A>G 11:108239077 A > G 3' UTR 11 0 0.00111
c.*2852G>A 11:108239087 G > A 3' UTR 1 0 0.000101
c.*2865_*2866insTAGT 11:108239100 > TAGT 3' UTR 1 0 0.000101
c.*2866T>C 11:108239101 T > C 3' UTR 2 7 0.000911
c.*2899_*2901delGTT 11:108239134 GTT 3' UTR 0 1 0.000101
c.*2908T>G 11:108239143 T > G 3' UTR 1 0 0.000101
c.*2911T>C 11:108239146 T > C 3' UTR 0 1 0.000101
c.*2957G>C 11:108239192 G > C 3' UTR 3 2 0.000506
c.*2975T>A 11:108239210 T > A 3' UTR 1 0 0.000101
c.*2990G>A 11:108239225 G > A 3' UTR 0 5 0.000506
c.*2993G>A 11:108239228 G > A 3' UTR 1 0 0.000101
c.*3022C>G 11:108239257 C > G 3' UTR 2 0 0.000202
c.*3027C>G 11:108239262 C > G 3' UTR 2 0 0.000202
c.*3037G>A 11:108239272 G > A 3' UTR 0 1 0.000101
c.*3042T>C 11:108239277 T > C 3' UTR 2 6 0.000809
c.*3060T>C 11:108239295 T > C 3' UTR 0 1 0.000101
c.*3091G>A 11:108239326 G > A 3' UTR 1 0 0.000101
c.*3102T>A 11:108239337 T > A 3' UTR 2 0 0.000202
c.*3121T>C 11:108239356 T > C 3' UTR 2 0 0.000202
c.*3136A>G 11:108239371 A > G 3' UTR 39 0 0.00395
c.*3185G>A 11:108239420 G > A 3' UTR 1 0 0.000101
c.*3198T>G 11:108239433 T > G 3' UTR 30 2 0.00324
c.*3248A>G 11:108239483 A > G 3' UTR 6 0 0.000607
c.*3269_*3270insTAATCA 11:108239504 > TAATCA 3' UTR 1 0 0.000101
c.*3286A>C 11:108239521 A > C 3' UTR 0 1 0.000101
c.*3361C>A 11:108239596 C > A 3' UTR 1 0 0.000101
c.*3386T>A 11:108239621 T > A 3' UTR 1 0 0.000101
c.*3401A>T 11:108239636 A > T 3' UTR 1 0 0.000101
c.*3413T>C 11:108239648 T > C 3' UTR 3 0 0.000304
c.*3468A>T 11:108239703 A > T 3' UTR 2 0 0.000202
c.*3484C>A 11:108239719 C > A 3' UTR 2 0 0.000202
c.*3584_*3591delCTAAAAGCATATA 11:108239819 CTAAAAGCATATA 3' UTR 3 0 0.000304
c.-24A>G 11:108098328 A > G 5' UTR 0 1 0.000101
c.-4477C>T 11:108093875 C > T 5' UTR 1 0 0.000101
c.-4481C>T 11:108093871 C > T 5' UTR 0 1 0.000101
c.-4492C>T 11:108093860 C > T 5' UTR 1 0 0.000101
c.-4495G>C 11:108093857 G > C 5' UTR 1 0 0.000101
c.-4531G>A 11:108093821 G > A 5' UTR 1 0 0.000101
c.-4537A>C 11:108093815 A > C 5' UTR 6 0 0.000607
c.-4539G>A 11:108093813 G > A 5' UTR 0 1 0.000101
c.-4556G>A 11:108093796 G > A 5' UTR 1 0 0.000101
c.-4558A>G 11:108093794 A > G 5' UTR 1 0 0.000101
c.-4587C>T 11:108093765 C > T 5' UTR 1 0 0.000101
c.-4594G>A 11:108093758 G > A 5' UTR 1 0 0.000101
c.-4623C>G 11:108093729 C > G 5' UTR 0 1 0.000101
c.-4643C>A 11:108093709 C > A 5' UTR 0 1 0.000101
c.-4679C>T 11:108093673 C > T 5' UTR 1 0 0.000101
c.-4682G>A 11:108093670 G > A 5' UTR 3 0 0.000304
c.-4689_-4688insT 11:108093663 > T 5' UTR 1 0 0.000101
c.-4691_-4690del- 11:108093661 GT 5' UTR 1 0 0.000101
c.-4692A>C 11:108093660 A > C 5' UTR 2 0 0.000202
c.-4703T>A 11:108093649 T > A 5' UTR 3 0 0.000304
c.-4709G>C 11:108093643 G > C 5' UTR 1 0 0.000101
c.-4717T>C 11:108093635 T > C 5' UTR 0 1 0.000101
c.-4734G>A 11:108093618 G > A 5' UTR 1 0 0.000101
c.-4735T>A 11:108093617 T > A 5' UTR 0 1 0.000101
c.-4735T>C 11:108093617 T > C 5' UTR 2 11 0.00132
c.-4736A>G 11:108093616 A > G 5' UTR 1 0 0.000101
c.-4736A>T 11:108093616 A > T 5' UTR 7 41 0.00486
c.-4746A>G 11:108093606 A > G 5' UTR 1 0 0.000101
c.-4762C>T 11:108093590 C > T 5' UTR 2 0 0.000202
c.-4772G>A 11:108093580 G > A 5' UTR 1 0 0.000101
c.-4779G>C 11:108093573 G > C 5' UTR 1 3 0.000405
c.-4780C>T 11:108093572 C > T 5' UTR 1 0 0.000101
c.-4784G>A 11:108093568 G > A 5' UTR 2 0 0.000202
c.-4784G>C 11:108093568 G > C 5' UTR 0 1 0.000101
c.-4784G>T 11:108093568 G > T 5' UTR 1 0 0.000101
c.-4785C>G 11:108093567 C > G 5' UTR 1 0 0.000101
c.A86C p.K29T 11:108098516 A > C missense 0 1 0.000101
c.A115G p.T39A 11:108098545 A > G missense 1 0 0.000101
c.A131G p.D44G 11:108098561 A > G missense 1 2 0.000304
c.A198G p.K66K 11:108099917 A > G silent 2 0 0.000202
c.A202G p.I68V 11:108099921 A > G missense 1 0 0.000101
c.A246G p.V82V 11:108099965 A > G silent 2 0 0.000202
c.A295G p.S99G 11:108100014 A > G missense 4 0 0.000405
c.A370G p.I124V 11:108106435 A > G missense 4 32 0.00364
c.A482G p.Q161R 11:108106547 A > G missense 0 2 0.000202
c.A548C p.H183P 11:108114731 A > C missense 1 0 0.000101
c.A591T p.G197G 11:108114774 A > T silent 2 0 0.000202
c.A670G p.K224E 11:108115522 A > G missense 2 0 0.000202
c.A858G p.Q286Q 11:108115710 A > G silent 0 2 0.000202
c.A1073G p.N358S 11:108119667 A > G missense 3 13 0.00162
c.A1141G p.S381G 11:108119735 A > G missense 0 1 0.000101
c.A1254G p.Q418Q 11:108121446 A > G silent 66 412 0.0484
c.A1428G p.Q476Q 11:108121620 A > G silent 1 0 0.000101
c.A1440C p.L480F 11:108121632 A > C missense 1 0 0.000101
c.A1444C p.K482Q 11:108121636 A > C missense 1 0 0.000101
c.A1605G p.S535S 11:108121797 A > G silent donor:3 1 0 0.000101
c.A1648G p.I550V 11:108122604 A > G missense 2 0 0.000202
c.A1902G p.E634E 11:108124544 A > G silent 2 0 0.000202
c.A1911G p.Q637Q 11:108124553 A > G silent 0 1 0.000101
c.A1926G p.E642E 11:108124568 A > G silent 1 0 0.000101
c.A1946G p.E649G 11:108124588 A > G missense 1 0 0.000101
c.A1947G p.E649E 11:108124589 A > G silent 0 1 0.000101
c.A1953G p.L651L 11:108124595 A > G silent 2 0 0.000202
c.A2011G p.I671V 11:108124653 A > G missense 0 1 0.000101
c.A2021G p.H674R 11:108124663 A > G missense 3 0 0.000304
c.A2096G p.E699G 11:108124738 A > G missense 1 9 0.00101
c.A2275G p.S759G 11:108128232 A > G missense 2 0 0.000202
c.A2281T p.T761S 11:108128238 A > T missense 2 4 0.000607
c.A2333G p.N778S 11:108128290 A > G missense 1 0 0.000101
c.A2338T p.M780L 11:108128295 A > T missense 1 0 0.000101
c.A2346G p.L782L 11:108128303 A > G silent 0 1 0.000101
c.A2362C p.S788R 11:108128319 A > C missense 4 49 0.00536
c.A2466G p.L822L 11:108129802 A > G silent donor:1 1 0 0.000101
c.A2519T p.D840V 11:108137950 A > T missense 1 0 0.000101
c.A2608G p.N870D 11:108138039 A > G missense 3 23 0.00263
c.A2678G p.Q893R 11:108139176 A > G missense 0 1 0.000101
c.A2679G p.Q893Q 11:108139177 A > G silent 1 0 0.000101
c.A2685G p.L895L 11:108139183 A > G silent 17 223 0.0243
c.A2741G p.N914S 11:108139239 A > G missense 1 0 0.000101
c.A2778G p.K926K 11:108139276 A > G silent 0 2 0.000202
c.A2836G p.M946V 11:108139334 A > G missense donor:3 2 0 0.000202
c.A2887G p.M963V 11:108141839 A > G missense 0 5 0.000506
c.A2919G p.L973L 11:108141871 A > G silent donor:3 1 0 0.000101
c.A2924G p.N975S 11:108141980 A > G missense acceptor:3 1 0 0.000101
c.A3014G p.N1005S 11:108142070 A > G missense 4 0 0.000405
c.A3016G p.M1006V 11:108142072 A > G missense 1 0 0.000101
c.A3085T p.T1029S 11:108143266 A > T missense 1 0 0.000101
c.A3118G p.M1040V 11:108143299 A > G missense 18 200 0.0221
c.A3283C p.R1095R 11:108143578 A > C silent donor:2 0 1 0.000101
c.A3293G p.Q1098R 11:108150226 A > G missense 1 0 0.000101
c.A3378G p.K1126K 11:108150311 A > G silent 1 0 0.000101
c.A3383G p.Q1128R 11:108150316 A > G missense 20 108 0.0130
c.A3588G p.K1196K 11:108153448 A > G silent 1 0 0.000101
c.A3628G p.M1210V 11:108153488 A > G missense 0 3 0.000304
c.A3689G p.N1230S 11:108153549 A > G missense 2 1 0.000304
c.A3806G p.K1269R 11:108155013 A > G missense 1 2 0.000304
c.A3823T p.I1275F 11:108155030 A > T missense 0 1 0.000101
c.A4066G p.N1356D 11:108158399 A > G missense 8 0 0.000809
c.A4082G p.Q1361R 11:108158415 A > G missense 4 5 0.000911
c.A4151G p.H1384R 11:108159745 A > G missense 1 0 0.000101
c.A4167G p.T1389T 11:108159761 A > G silent 2 1 0.000304
c.A4304C p.K1435T 11:108160396 A > C missense 1 0 0.000101
c.A4307G p.H1436R 11:108160399 A > G missense 0 1 0.000101
c.A4362C p.K1454N 11:108160454 A > C missense 4 0 0.000405
c.A4424G p.Y1475C 11:108160516 A > G missense 16 1 0.00172
c.A4629G p.K1543K 11:108164057 A > G silent 1 0 0.000101
c.A4658C p.E1553A 11:108164086 A > C missense 0 2 0.000202
c.A4821G p.P1607P 11:108165698 A > G silent 1 0 0.000101
c.A4871G p.H1624R 11:108165748 A > G missense 2 4 0.000607
c.A4949G p.N1650S 11:108168053 A > G missense 0 2 0.000202
c.A5062G p.I1688V 11:108170497 A > G missense 1 0 0.000101
c.A5071C p.S1691R 11:108170506 A > C missense 32 4 0.00364
c.A5089G p.T1697A 11:108170524 A > G missense 1 0 0.000101
c.A5278G p.M1760V 11:108172475 A > G missense 0 1 0.000101
c.A5405G p.H1802R 11:108173665 A > G missense 1 0 0.000101
c.A5475G p.Q1825Q 11:108173735 A > G silent 1 0 0.000101
c.A5523G p.V1841V 11:108175428 A > G silent 1 0 0.000101
c.A5550G p.L1850L 11:108175455 A > G silent 1 0 0.000101
c.A5558T p.D1853V 11:108175463 A > T missense 97 3 0.0101
c.A5776G p.T1926A 11:108180900 A > G missense 1 0 0.000101
c.A5882G p.Y1961C 11:108181006 A > G missense 2 0 0.000202
c.A5890G p.K1964E 11:108181014 A > G missense 1 0 0.000101
c.A5948G p.N1983S 11:108183167 A > G missense 7319 2556 0.999
c.A5975C p.K1992T 11:108183194 A > C missense 4 0 0.000405
c.A6088G p.I2030V 11:108186631 A > G missense 7 107 0.0115
c.A6226G p.I2076V 11:108188127 A > G missense 1 0 0.000101
c.A6260G p.E2087G 11:108188161 A > G missense 1 0 0.000101
c.A6396G p.L2132L 11:108190729 A > G silent 1 0 0.000101
c.A6443G p.K2148R 11:108190776 A > G missense 0 1 0.000101
c.A6456G p.V2152V 11:108192031 A > G silent 1 0 0.000101
c.A6670G p.M2224V 11:108196134 A > G missense 0 1 0.000101
c.A6729G p.Q2243Q 11:108196193 A > G silent 1 0 0.000101
c.A6789C p.R2263S 11:108196253 A > C missense 0 1 0.000101
c.A6888T p.A2296A 11:108196865 A > T silent 2 0 0.000202
c.A6908T p.K2303M 11:108196885 A > T missense 1 0 0.000101
c.A7314C p.T2438T 11:108200947 A > C silent 1 0 0.000101
c.A7437G p.E2479E 11:108201070 A > G silent 1 0 0.000101
c.A7516G p.R2506G 11:108202171 A > G missense acceptor:1 0 2 0.000202
c.A7525G p.M2509V 11:108202180 A > G missense 0 1 0.000101
c.A7740C p.R2580S 11:108202716 A > C missense 1 0 0.000101
c.A7778G p.Q2593R 11:108202754 A > G missense 2 0 0.000202
c.A7808G p.N2603S 11:108203508 A > G missense 0 2 0.000202
c.A7816G p.I2606V 11:108203516 A > G missense 2 0 0.000202
c.A7890G p.L2630L 11:108203590 A > G silent 0 2 0.000202
c.A7999G p.M2667V 11:108204684 A > G missense 1 0 0.000101
c.A8015C p.D2672A 11:108205700 A > C missense 1 0 0.000101
c.A8266T p.K2756X 11:108206686 A > T nonsense donor:3 1 0 0.000101
c.A8427C p.Q2809H 11:108216478 A > C missense 0 1 0.000101
c.A8530G p.I2844V 11:108216581 A > G missense 1 0 0.000101
c.A8734G p.R2912G 11:108224555 A > G missense 2 0 0.000202
c.A8942G p.H2981R 11:108235900 A > G missense 1 0 0.000101
c.A9070C p.T3024P 11:108236134 A > C missense 1 0 0.000101
c.C37T p.R13C 11:108098388 C > T missense 0 1 0.000101
c.C103A p.R35R 11:108098533 C > A silent 1 2 0.000304
c.C133T p.R45W 11:108098563 C > T missense 1 0 0.000101
c.C146G p.S49C 11:108098576 C > G missense 185 13 0.0200
c.C303T p.V101V 11:108100022 C > T silent 0 1 0.000101
c.C520T p.L174F 11:108114703 C > T missense 1 0 0.000101
c.C609T p.D203D 11:108114792 C > T silent 19 2 0.00212
c.C735T p.V245V 11:108115587 C > T silent 168 8 0.0178
c.C875T p.P292L 11:108115727 C > T missense 1 0 0.000101
c.C998T p.S333F 11:108117787 C > T missense 24 0 0.00243
c.C1112T p.T371I 11:108119706 C > T missense 1 0 0.000101
c.C1176G p.G392G 11:108119770 C > G silent 29 237 0.0269
c.C1176T p.G392G 11:108119770 C > T silent 0 1 0.000101
c.C1324T p.L442F 11:108121516 C > T missense 1 0 0.000101
c.C1332A p.P444P 11:108121524 C > A silent 2 0 0.000202
c.C1339T p.R447X 11:108121531 C > T nonsense 0 1 0.000101
c.C1351T p.R451C 11:108121543 C > T missense 1 0 0.000101
c.C1505G p.A502G 11:108121697 C > G missense 1 0 0.000101
c.C1522T p.L508F 11:108121714 C > T missense 1 0 0.000101
c.C1636G p.L546V 11:108122592 C > G missense 25 243 0.0271
c.C1810T p.P604S 11:108123551 C > T missense 48 37 0.00860
c.C1887T p.S629S 11:108123628 C > T silent 0 1 0.000101
c.C2040T p.F680F 11:108124682 C > T silent 1 0 0.000101
c.C2074T p.R692C 11:108124716 C > T missense 0 1 0.000101
c.C2148G p.V716V 11:108126965 C > G silent 1 0 0.000101
c.C2158T p.R720C 11:108126975 C > T missense 0 1 0.000101
c.C2193T p.Y731Y 11:108127010 C > T silent 25 243 0.0271
c.C2426T p.S809L 11:108129762 C > T missense 0 1 0.000101
c.C2442A p.D814E 11:108129778 C > A missense 11 130 0.0143
c.C2494T p.R832C 11:108137925 C > T missense 5 0 0.000506
c.C2577T p.N859N 11:108138008 C > T silent 1 0 0.000101
c.C2606G p.A869G 11:108138037 C > G missense 0 1 0.000101
c.C2610T p.N870N 11:108138041 C > T silent 2 0 0.000202
c.C2614T p.P872S 11:108138045 C > T missense 17 224 0.0244
c.C2697T p.D899D 11:108139195 C > T silent 0 1 0.000101
c.C2804T p.T935M 11:108139302 C > T missense 2 0 0.000202
c.C2824T p.L942F 11:108139322 C > T missense 1 0 0.000101
c.C2922T p.S974S 11:108141978 C > T silent acceptor:1 1 0 0.000101
c.C3161G p.P1054R 11:108143456 C > G missense 393 24 0.0422
c.C3247T p.H1083Y 11:108143542 C > T missense 0 1 0.000101
c.C3291G p.F1097L 11:108150224 C > G missense 1 0 0.000101
c.C3335G p.P1112R 11:108150268 C > G missense 0 1 0.000101
c.C3372G p.Y1124X 11:108150305 C > G nonsense 1 0 0.000101
c.C3495T p.S1165S 11:108151814 C > T silent 0 1 0.000101
c.C3526G p.L1176V 11:108151845 C > G missense 0 1 0.000101
c.C3613T p.R1205C 11:108153473 C > T missense 1 0 0.000101
c.C3964A p.L1322I 11:108155171 C > A missense 1 0 0.000101
c.C4060A p.P1354T 11:108158393 C > A missense 6 0 0.000607
c.C4138T p.H1380Y 11:108159732 C > T missense 37 347 0.0389
c.C4179A p.I1393I 11:108159773 C > A silent 1 0 0.000101
c.C4258T p.L1420F 11:108160350 C > T missense 254 17 0.0274
c.C4306T p.H1436Y 11:108160398 C > T missense 1 0 0.000101
c.C4401T p.D1467D 11:108160493 C > T silent 1 0 0.000101
c.C4473T p.F1491F 11:108163382 C > T silent 29 2 0.00314
c.C4477T p.L1493F 11:108163386 C > T missense 0 2 0.000202
c.C4515T p.A1505A 11:108163424 C > T silent 1 0 0.000101
c.C4578T p.P1526P 11:108163487 C > T silent 665 65 0.0739
c.C4723T p.R1575C 11:108164151 C > T missense 0 1 0.000101
c.C4759G p.P1587A 11:108164187 C > G missense 1 0 0.000101
c.C4768T p.L1590F 11:108164196 C > T missense 3 0 0.000304
c.C4792A p.L1598I 11:108165669 C > A missense 0 1 0.000101
c.C4980T p.N1660N 11:108168084 C > T silent 6 0 0.000607
c.C5267G p.T1756R 11:108172464 C > G missense 1 0 0.000101
c.C5390T p.P1797L 11:108173650 C > T missense 1 0 0.000101
c.C5612T p.T1871I 11:108175517 C > T missense 1 0 0.000101
c.C5639T p.T1880M 11:108175544 C > T missense 1 0 0.000101
c.C6086G p.P2029R 11:108186629 C > G missense 0 1 0.000101
c.C6176T p.T2059I 11:108186818 C > T missense 1 21 0.00223
c.C6234T p.S2078S 11:108188135 C > T silent 1 0 0.000101
c.C6486T p.S2162S 11:108192061 C > T silent 0 1 0.000101
c.C6507G p.L2169L 11:108192082 C > G silent 0 1 0.000101
c.C6795T p.F2265F 11:108196259 C > T silent 9 0 0.000911
c.C6919T p.L2307F 11:108196896 C > T missense 25 0 0.00253
c.C6925T p.L2309L 11:108196902 C > T silent 2 0 0.000202
c.C6966T p.S2322S 11:108196943 C > T silent 0 1 0.000101
c.C6974T p.A2325V 11:108196951 C > T missense donor:2 1 0 0.000101
c.C6988G p.L2330V 11:108198384 C > G missense 1 17 0.00182
c.C6998T p.T2333I 11:108198394 C > T missense 0 6 0.000607
c.C7004T p.T2335I 11:108198400 C > T missense 2 3 0.000506
c.C7174T p.R2392W 11:108199832 C > T missense 2 3 0.000506
c.C7187G p.T2396S 11:108199845 C > G missense 3 0 0.000304
c.C7244G p.A2415G 11:108199902 C > G missense 0 1 0.000101
c.C7313T p.T2438I 11:108200946 C > T missense 0 10 0.00101
c.C7327T p.R2443X 11:108200960 C > T nonsense 1 0 0.000101
c.C7357T p.R2453C 11:108200990 C > T missense 1 0 0.000101
c.C7375G p.R2459G 11:108201008 C > G missense 1 0 0.000101
c.C7381T p.R2461C 11:108201014 C > T missense 0 3 0.000304
c.C7383T p.R2461R 11:108201016 C > T silent 0 1 0.000101
c.C7521T p.D2507D 11:108202176 C > T silent 1 0 0.000101
c.C7552T p.P2518S 11:108202207 C > T missense 0 6 0.000607
c.C7840T p.P2614S 11:108203540 C > T missense 1 0 0.000101
c.C7919T p.T2640I 11:108203619 C > T missense 1 0 0.000101
c.C8154T p.G2718G 11:108206574 C > T silent acceptor:3 0 2 0.000202
c.C8560T p.R2854C 11:108216611 C > T missense 1 0 0.000101
c.C8562T p.R2854R 11:108216613 C > T silent 1 0 0.000101
c.C8592T p.Y2864Y 11:108218013 C > T silent 11 0 0.00111
c.C8762T p.T2921M 11:108224583 C > T missense 0 1 0.000101
c.C8820T p.N2940N 11:108225571 C > T silent 0 1 0.000101
c.C8871G p.L2957L 11:108235829 C > G silent 1 0 0.000101
c.C8921T p.P2974L 11:108235879 C > T missense 0 2 0.000202
c.C8950A p.L2984M 11:108235908 C > A missense 0 1 0.000101
c.C9006T p.F3002F 11:108236070 C > T silent 1 0 0.000101
c.C9049T p.L3017L 11:108236113 C > T silent 1 0 0.000101
c.C9142G p.L3048V 11:108236206 C > G missense 1 0 0.000101
c.G38A p.R13H 11:108098389 G > A missense 1 0 0.000101
c.G170A p.W57X 11:108098600 G > A nonsense 1 0 0.000101
c.G320A p.C107Y 11:108100039 G > A missense 0 11 0.00111
c.G334A p.A112T 11:108106399 G > A missense acceptor:3 1 13 0.00142
c.G412A p.G138R 11:108106477 G > A missense 0 1 0.000101
c.G415A p.A139T 11:108106480 G > A missense 0 1 0.000101
c.G425A p.S142N 11:108106490 G > A missense 1 0 0.000101
c.G510A p.V170V 11:108114693 G > A silent 1 0 0.000101
c.G544C p.V182L 11:108114727 G > C missense 17 111 0.0130
c.G610A p.G204R 11:108114793 G > A missense 2 0 0.000202
c.G646T p.A216S 11:108114829 G > T missense 0 1 0.000101
c.G660A p.A220A 11:108114843 G > A silent donor:3 2 0 0.000202
c.G902A p.G301D 11:108117691 G > A missense acceptor:1 2 0 0.000202
c.G1010A p.R337H 11:108117799 G > A missense 3 0 0.000304
c.G1021A p.V341I 11:108117810 G > A missense 2 0 0.000202
c.G1380A p.T460T 11:108121572 G > A silent 0 1 0.000101
c.G1380C p.T460T 11:108121572 G > C silent 3 13 0.00162
c.G1387A p.A463T 11:108121579 G > A missense 1 0 0.000101
c.G1464T p.W488C 11:108121656 G > T missense 3 0 0.000304
c.G1541A p.G514D 11:108121733 G > A missense 29 316 0.0349
c.G1595A p.C532Y 11:108121787 G > A missense 3 0 0.000304
c.G1703T p.R568I 11:108122659 G > T missense 2 0 0.000202
c.G1837T p.V613L 11:108123578 G > T missense 1 0 0.000101
c.G2019A p.K673K 11:108124661 G > A silent 2 0 0.000202
c.G2036C p.G679A 11:108124678 G > C missense 0 1 0.000101
c.G2087A p.G696E 11:108124729 G > A missense 0 1 0.000101
c.G2189A p.C730Y 11:108127006 G > A missense 1 0 0.000101
c.G2379A p.K793K 11:108129715 G > A silent acceptor:3 0 1 0.000101
c.G2414A p.R805Q 11:108129750 G > A missense 1 0 0.000101
c.G2418T p.L806F 11:108129754 G > T missense 1 0 0.000101
c.G2736A p.Q912Q 11:108139234 G > A silent 0 1 0.000101
c.G2805C p.T935T 11:108139303 G > C silent 6 1 0.000708
c.G2805T p.T935T 11:108139303 G > T silent 0 2 0.000202
c.G3300A p.T1100T 11:108150233 G > A silent 2 0 0.000202
c.G3303A p.K1101K 11:108150236 G > A silent 1 0 0.000101
c.G3342A p.K1114K 11:108150275 G > A silent 18 0 0.00182
c.G3468A p.T1156T 11:108151787 G > A silent 1 0 0.000101
c.G3478C p.V1160L 11:108151797 G > C missense 1 0 0.000101
c.G3577A p.V1193I 11:108153437 G > A missense acceptor:1 1 0 0.000101
c.G3614A p.R1205H 11:108153474 G > A missense 0 1 0.000101
c.G3630A p.M1210I 11:108153490 G > A missense 1 0 0.000101
c.G3785T p.R1262I 11:108154992 G > T missense 1 0 0.000101
c.G3832A p.D1278N 11:108155039 G > A missense 1 0 0.000101
c.G3925A p.A1309T 11:108155132 G > A missense 22 2 0.00243
c.G4050A p.T1350T 11:108158383 G > A silent 1 0 0.000101
c.G4279A p.A1427T 11:108160371 G > A missense 0 2 0.000202
c.G4332A p.L1444L 11:108160424 G > A silent 0 1 0.000101
c.G4375A p.G1459R 11:108160467 G > A missense 4 0 0.000405
c.G4378T p.A1460S 11:108160470 G > T missense 0 2 0.000202
c.G4402A p.V1468I 11:108160494 G > A missense 1 6 0.000708
c.G4445A p.C1482Y 11:108163354 G > A missense 1 0 0.000101
c.G4456A p.V1486M 11:108163365 G > A missense 1 0 0.000101
c.G4501T p.V1501F 11:108163410 G > T missense 1 0 0.000101
c.G4505T p.C1502F 11:108163414 G > T missense 1 0 0.000101
c.G4626A p.L1542L 11:108164054 G > A silent 1 0 0.000101
c.G4687A p.D1563N 11:108164115 G > A missense 1 0 0.000101
c.G4724A p.R1575H 11:108164152 G > A missense 2 0 0.000202
c.G4853A p.R1618Q 11:108165730 G > A missense 1 0 0.000101
c.G4917A p.P1639P 11:108168021 G > A silent 1 0 0.000101
c.G5080A p.A1694T 11:108170515 G > A missense 1 0 0.000101
c.G5185C p.V1729L 11:108172382 G > C missense 2 0 0.000202
c.G5189A p.R1730Q 11:108172386 G > A missense 1 0 0.000101
c.G5557A p.D1853N 11:108175462 G > A missense 1892 139 0.205
c.G5583A p.L1861L 11:108175488 G > A silent 3 0 0.000304
c.G5821C p.V1941L 11:108180945 G > C missense 8 2 0.00101
c.G5932T p.E1978X 11:108183151 G > T nonsense 1 0 0.000101
c.G6040C p.E2014Q 11:108186583 G > C missense 0 1 0.000101
c.G6042A p.E2014E 11:108186585 G > A silent 0 2 0.000202
c.G6067A p.G2023R 11:108186610 G > A missense 24 2 0.00263
c.G6078A p.M2026I 11:108186621 G > A missense 0 1 0.000101
c.G6154A p.E2052K 11:108186796 G > A missense 1 0 0.000101
c.G6179C p.R2060P 11:108186821 G > C missense 0 2 0.000202
c.G6235A p.V2079I 11:108188136 G > A missense 31 86 0.0118
c.G6343A p.V2115I 11:108188244 G > A missense 3 0 0.000304
c.G6437C p.S2146T 11:108190770 G > C missense 7 55 0.00627
c.G6543T p.E2181D 11:108192118 G > T missense 0 8 0.000809
c.G6807A p.Q2269Q 11:108196271 G > A silent donor:1 1 0 0.000101
c.G6814A p.E2272K 11:108196791 G > A missense 0 1 0.000101
c.G6820A p.A2274T 11:108196797 G > A missense 4 0 0.000405
c.G6860C p.G2287A 11:108196837 G > C missense 4 0 0.000405
c.G7036A p.A2346T 11:108198432 G > A missense 1 0 0.000101
c.G7044A p.T2348T 11:108198440 G > A silent 0 3 0.000304
c.G7062A p.A2354A 11:108198458 G > A silent 1 0 0.000101
c.G7062C p.A2354A 11:108198458 G > C silent 0 1 0.000101
c.G7224A p.S2408S 11:108199882 G > A silent 0 2 0.000202
c.G7274T p.G2425V 11:108199932 G > T missense 0 1 0.000101
c.G7358A p.R2453H 11:108200991 G > A missense 1 0 0.000101
c.G7371A p.E2457E 11:108201004 G > A silent 1 0 0.000101
c.G7382A p.R2461H 11:108201015 G > A missense 0 1 0.000101
c.G7463A p.C2488Y 11:108201096 G > A missense 1 0 0.000101
c.G7618A p.V2540I 11:108202273 G > A missense 1 0 0.000101
c.G7861C p.E2621Q 11:108203561 G > C missense 1 0 0.000101
c.G8032A p.G2678R 11:108205717 G > A missense 1 0 0.000101
c.G8086A p.V2696I 11:108205771 G > A missense 1 0 0.000101
c.G8156A p.R2719H 11:108206576 G > A missense 2 0 0.000202
c.G8229A p.T2743T 11:108206649 G > A silent 0 1 0.000101
c.G8559A p.T2853T 11:108216610 G > A silent 0 1 0.000101
c.G8968A p.E2990K 11:108235926 G > A missense 3 0 0.000304
c.G8978A p.R2993Q 11:108235936 G > A missense 0 2 0.000202
c.G9045A p.E3015E 11:108236109 G > A silent 2 0 0.000202
c.G9086A p.G3029D 11:108236150 G > A missense 8 2 0.00101
c.G9166T p.V3056L 11:108236230 G > T missense 1 0 0.000101
c.T138C p.H46H 11:108098568 T > C silent 1 0 0.000101
c.T162C p.Y54Y 11:108098592 T > C silent 40 0 0.00405
c.T179C p.V60A 11:108098609 T > C missense 0 1 0.000101
c.T290C p.I97T 11:108100009 T > C missense 0 1 0.000101
c.T378A p.D126E 11:108106443 T > A missense 107 900 0.102
c.T450A p.L150L 11:108106515 T > A silent 3 0 0.000304
c.T507C p.S169S 11:108114690 T > C silent 1 0 0.000101
c.T657C p.C219C 11:108114840 T > C silent 43 430 0.0479
c.T713C p.I238T 11:108115565 T > C missense 0 1 0.000101
c.T861C p.I287I 11:108115713 T > C silent 1 0 0.000101
c.T903G p.G301G 11:108117692 T > G silent acceptor:2 1 0 0.000101
c.T946C p.Y316H 11:108117735 T > C missense 2 0 0.000202
c.T1138A p.Y380N 11:108119732 T > A missense 1 1 0.000202
c.T1229C p.V410A 11:108119823 T > C missense 55 3 0.00587
c.T1272C p.P424P 11:108121464 T > C silent 4 0 0.000405
c.T1303C p.L435L 11:108121495 T > C silent 2 0 0.000202
c.T1542C p.G514G 11:108121734 T > C silent 1 0 0.000101
c.T1631C p.L544S 11:108122587 T > C missense 0 1 0.000101
c.T1727C p.I576T 11:108122683 T > C missense 1 0 0.000101
c.T1744C p.F582L 11:108122700 T > C missense 10 0 0.00101
c.T1773C p.N591N 11:108122729 T > C silent 4 0 0.000405
c.T1986C p.F662F 11:108124628 T > C silent 12 0 0.00121
c.T2082C p.L694L 11:108124724 T > C silent 1 0 0.000101
c.T2119C p.S707P 11:108124761 T > C missense 181 6 0.0189
c.T2289A p.F763L 11:108128246 T > A missense 11 12 0.00233
c.T2523C p.D841D 11:108137954 T > C silent 1 0 0.000101
c.T2572C p.F858L 11:108138003 T > C missense 207 17 0.0227
c.T2589C p.D863D 11:108138020 T > C silent 1 0 0.000101
c.T2689A p.F897I 11:108139187 T > A missense 2 0 0.000202
c.T2831G p.L944R 11:108139329 T > G missense 0 1 0.000101
c.T2851G p.L951V 11:108141803 T > G missense 1 0 0.000101
c.T2927C p.V976A 11:108141983 T > C missense 0 3 0.000304
c.T2932C p.S978P 11:108141988 T > C missense 4 1 0.000506
c.T2967C p.T989T 11:108142023 T > C silent 0 3 0.000304
c.T3017C p.M1006T 11:108142073 T > C missense 0 1 0.000101
c.T3024C p.S1008S 11:108142080 T > C silent 1 0 0.000101
c.T3150C p.L1050L 11:108143331 T > C silent 3 0 0.000304
c.T3237C p.A1079A 11:108143532 T > C silent 1 1 0.000202
c.T3392C p.M1131T 11:108150325 T > C missense 0 1 0.000101
c.T3517C p.L1173L 11:108151836 T > C silent 3 13 0.00162
c.T3601A p.F1201I 11:108153461 T > A missense 0 3 0.000304
c.T3639C p.H1213H 11:108153499 T > C silent 0 1 0.000101
c.T3710G p.I1237S 11:108153570 T > G missense 1 0 0.000101
c.T3793C p.F1265L 11:108155000 T > C missense 0 1 0.000101
c.T3957C p.Y1319Y 11:108155164 T > C silent 1 0 0.000101
c.T4042C p.L1348L 11:108158375 T > C silent 5 88 0.00941
c.T4056C p.H1352H 11:108158389 T > C silent 0 1 0.000101
c.T4324C p.Y1442H 11:108160416 T > C missense 4 0 0.000405
c.T4388G p.F1463C 11:108160480 T > G missense 28 2 0.00304
c.T4403C p.V1468A 11:108160495 T > C missense 1 0 0.000101
c.T4471C p.F1491L 11:108163380 T > C missense 1 0 0.000101
c.T4615C p.L1539L 11:108164043 T > C silent 0 1 0.000101
c.T4709C p.V1570A 11:108164137 T > C missense 12 0 0.00121
c.T5157C p.N1719N 11:108170592 T > C silent 1 0 0.000101
c.T5168C p.V1723A 11:108170603 T > C missense 0 1 0.000101
c.T5355G p.P1785P 11:108173615 T > G silent 0 1 0.000101
c.T5489C p.M1830T 11:108173749 T > C missense 0 4 0.000405
c.T5544C p.D1848D 11:108175449 T > C silent 0 1 0.000101
c.T5793C p.A1931A 11:108180917 T > C silent 101 44 0.0147
c.T6025C p.Y2009H 11:108186568 T > C missense 0 1 0.000101
c.T6108C p.Y2036Y 11:108186750 T > C silent 0 1 0.000101
c.T6122C p.M2041T 11:108186764 T > C missense 1 1 0.000202
c.T6147C p.Y2049Y 11:108186789 T > C silent 1 3 0.000405
c.T6194C p.I2065T 11:108186836 T > C missense 0 4 0.000405
c.T6255A p.D2085E 11:108188156 T > A missense 1 0 0.000101
c.T6475G p.C2159G 11:108192050 T > G missense 0 1 0.000101
c.T6537G p.I2179M 11:108192112 T > G missense 0 7 0.000708
c.T6554C p.I2185T 11:108192129 T > C missense 1 0 0.000101
c.T6604G p.Y2202D 11:108196068 T > G missense 3 0 0.000304
c.T6846C p.N2282N 11:108196823 T > C silent 0 2 0.000202
c.T6995C p.L2332P 11:108198391 T > C missense 4 118 0.0123
c.T7000A p.Y2334N 11:108198396 T > A missense 1 0 0.000101
c.T7271G p.V2424G 11:108199929 T > G missense 1 0 0.000101
c.T7390C p.C2464R 11:108201023 T > C missense 13 3 0.00162
c.T7445C p.M2482T 11:108201078 T > C missense 1 0 0.000101
c.T7475G p.L2492R 11:108201108 T > G missense 5 0 0.000506
c.T7592C p.M2531T 11:108202247 T > C missense 2 0 0.000202
c.T7604C p.L2535P 11:108202259 T > C missense 1 0 0.000101
c.T7902G p.D2634E 11:108203602 T > G missense 0 1 0.000101
c.T7983C p.D2661D 11:108204668 T > C silent 1 0 0.000101
c.T7989C p.V2663V 11:108204674 T > C silent 0 1 0.000101
c.T8109C p.D2703D 11:108205794 T > C silent 1 0 0.000101
c.T8178C p.A2726A 11:108206598 T > C silent 1 0 0.000101
c.T8248C p.L2750L 11:108206668 T > C silent 1 0 0.000101
c.T8556C p.Y2852Y 11:108216607 T > C silent 1 0 0.000101
c.T8574C p.T2858T 11:108216625 T > C silent 1 0 0.000101
c.T8589A p.G2863G 11:108218010 T > A silent 1 0 0.000101
c.T8844C p.I2948I 11:108225595 T > C silent 0 1 0.000101
c.T9087G p.G3029G 11:108236151 T > G silent 1 0 0.000101
c.T9162G p.A3054A 11:108236226 T > G silent 1 0 0.000101
11:108098303 A > G intronic acceptor:19 1 0 0.000101
11:108098305 A > G intronic acceptor:17 0 1 0.000101
11:108100055 G > A intronic donor:5 1 0 0.000101
11:108106394 T > C intronic acceptor:3 2 0 0.000202
11:108106565 T > C intronic donor:4 2 0 0.000202
11:108119651 A > T intronic acceptor:9 1 0 0.000101
11:108119654 T > G intronic acceptor:6 33 1 0.00344
11:108119657 C > A intronic acceptor:3 4 0 0.000405
11:108122549 T > C intronic acceptor:15 1 0 0.000101
11:108124525 T > A intronic acceptor:16 1 0 0.000101
11:108128189 T > C intronic acceptor:19 1 1 0.000202
11:108128198 T > G intronic acceptor:10 1 0 0.000101
11:108128339 A > C intronic donor:6 1 0 0.000101
11:108141773 T > C intronic acceptor:18 0 1 0.000101
11:108141958 T > G intronic acceptor:20 0 3 0.000304
11:108142137 G > A intronic donor:4 0 1 0.000101
11:108143438 T > C intronic acceptor:11 1 0 0.000101
11:108143445 G > A intronic acceptor:4 7 0 0.000708
11:108151708 A > G intronic acceptor:14 1 0 0.000101
11:108154938 A > G intronic acceptor:16 2 0 0.000202
11:108155205 G > T intronic donor:5 2 41 0.00435
11:108158320 C > T intronic acceptor:7 1 0 0.000101
11:108158448 T > C intronic donor:6 1 0 0.000101
11:108159695 C > A intronic acceptor:9 0 2 0.000202
11:108163326 T > G intronic acceptor:20 1 0 0.000101
11:108163332 T > C intronic acceptor:14 0 1 0.000101
11:108163337 C > T intronic acceptor:9 1 0 0.000101
11:108163339 A > G intronic acceptor:7 1 0 0.000101
11:108165641 T > A intronic acceptor:13 0 3 0.000304
11:108165789 G > A intronic donor:3 1 0 0.000101
11:108173566 C > T intronic acceptor:14 1 0 0.000101
11:108175387 G > C intronic acceptor:15 64 4 0.00688
11:108175394 T > C intronic acceptor:8 499 29 0.0534
11:108178609 A > G intronic acceptor:15 1 0 0.000101
11:108178717 G > A intronic donor:6 1 0 0.000101
11:108190676 C > A intronic acceptor:5 0 1 0.000101
11:108192011 T > G intronic acceptor:17 0 1 0.000101
11:108196765 A > G intronic acceptor:20 0 1 0.000101
11:108196772 A > G intronic acceptor:13 0 2 0.000202
11:108202589 T > C intronic acceptor:17 7 41 0.00486
11:108204603 T > C intronic acceptor:10 3 13 0.00162
11:108206555 G > A intronic acceptor:17 1 0 0.000101
11:108206694 T > A intronic donor:6 1 0 0.000101
11:108213935 A > T intronic acceptor:14 0 44 0.00445
11:108225533 T > C intronic acceptor:5 0 1 0.000101
11:108225605 A > C intronic donor:4 1 0 0.000101