Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-2249317-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain AMH 1 74108 1.34938E-5 37054 0 1.26563E-5
19-2249330-C-T c.-2C>T 5_prime_UTR_premature_start_codon_gain AMH 16 75622 2.11579E-4 37811 0 5.72499E-4
19-2249335-C-T p.Arg2Trp missense AMH 1 76224 1.31192E-5 38112 0 1.59459E-4
19-2249336-G-A p.Arg2Gln missense AMH 7 76424 9.15943E-5 38212 0 2.39326E-4
19-2249336-G-C p.Arg2Pro missense AMH 2 76424 2.61698E-5 38212 0 NA
19-2249351-C-G p.Thr7Ser missense AMH 7 77916 8.98403E-5 38958 0 1.27535E-4
19-2249351-C-T p.Thr7Ile missense AMH 1 77916 1.28343E-5 38958 0 NA
19-2249354-G-C p.Ser8Thr missense AMH 5 78050 6.40615E-5 39025 0 1.59408E-4
19-2249362-C-T p.Leu11Leu synonymous AMH 6 78676 7.62621E-5 39338 0 1.42867E-4
19-2249365-G-A p.Val12Met missense AMH 1 78860 1.26807E-5 39430 0 5.06242E-6
19-2249366-T-G p.Val12Gly missense AMH 181 78886 0.00229445 39443 2 0.00299079
19-2249370-G-C p.Leu13Leu synonymous AMH 2 79070 2.5294E-5 39535 0 3.26137E-5
19-2249370-G-T p.Leu13Leu synonymous AMH 1 79070 1.2647E-5 39535 0 NA
19-2249374-G-T p.Ala15Ser missense AMH 1 79232 1.26212E-5 39616 0 NA
19-2249380-G-A p.Gly17Arg missense AMH 1 79564 1.25685E-5 39782 0 4.88773E-6
19-2249383-G-A p.Ala18Thr missense AMH 2 79672 2.51029E-5 39836 0 2.88817E-5
19-2249384-C-T p.Ala18Val missense AMH 65 79716 8.15395E-4 39858 0 0.00252942
19-2249395-A-G p.Thr22Ala missense AMH 2 80206 2.49358E-5 40103 0 9.41806E-6
19-2249400-G-A p.Glu23Glu synonymous AMH 5 80468 6.21365E-5 40234 0 3.19061E-4
19-2249401-G-C p.Ala24Pro missense AMH 1 80484 1.24248E-5 40242 0 NA
19-2249401-G-A p.Ala24Thr missense AMH 4 80482 4.97006E-5 40241 0 1.94015E-4
19-2249403-C-T p.Ala24Ala synonymous AMH 1 80604 1.24063E-5 40302 0 NA
19-2249407-A-G p.Arg26Gly missense AMH 5 80702 6.19563E-5 40351 0 2.74977E-4
19-2249419-C-A p.Pro30Thr missense AMH 3 80968 3.70517E-5 40484 0 1.27624E-4
19-2249422-G-C p.Ala31Pro missense AMH 2 81034 2.4681E-5 40517 0 6.05571E-5
19-2249438-G-C p.Gly36Ala missense AMH 1 81266 1.23053E-5 40633 0 6.38121E-5
19-2249439-C-T p.Gly36Gly synonymous AMH 1 81288 1.23019E-5 40644 0 NA
19-2249440-C-T p.Leu37Phe missense AMH 1 81322 1.22968E-5 40661 0 3.39928E-5
19-2249445-C-T p.Ile38Ile synonymous AMH 5 81328 6.14794E-5 40664 0 1.62718E-5
19-2249449-C-T p.Arg40* stop_gained AMH 2 81358 2.45827E-5 40679 0 6.38284E-5
19-2249454-AGACTTG-A p.Leu43_Asp44del disruptive_inframe_deletion AMH 4 81398 4.91413E-5 40699 0 3.19122E-5
19-2249459-T-C p.Leu43Ser missense AMH 1 81404 1.22844E-5 40702 0 1.45586E-5
19-2249460-G-A p.Leu43Leu synonymous AMH 24 81412 2.94797E-4 40706 0 0.00151668
19-2249467-C-G p.Pro46Ala missense AMH 12 81420 1.47384E-4 40710 0 1.38539E-4
19-2249468-C-T p.Pro46Leu missense AMH 1 81428 1.22808E-5 40714 0 3.18857E-5
19-2249477-G-T p.Ser49Ile missense AMH 63620 80672 0.788626 40336 25460 0.795625
19-2249481-A-G p.Pro50Pro synonymous AMH 1 81400 1.2285E-5 40700 0 3.18959E-5
19-2249488-C-T p.Pro53Ser missense AMH 7 81400 8.59951E-5 40700 0 NA
19-2249489-C-A p.Pro53His missense AMH 1 81406 1.22841E-5 40703 0 NA
19-2249492-T-C p.Leu54Pro missense AMH 1 81408 1.22838E-5 40704 0 NA
19-2249493-G-C p.Leu54Leu synonymous AMH 1 81404 1.22844E-5 40702 0 1.22309E-5
19-2249503-G-T p.Ala58Ser missense AMH 1 81314 1.2298E-5 40657 0 NA
19-2249505-A-G p.Ala58Ala synonymous AMH 1 81296 1.23007E-5 40648 0 3.61141E-4
19-2249510-G-A p.Gly60Asp missense AMH 5 81244 6.1543E-5 40622 0 5.33646E-5
19-2249510-G-T p.Gly60Val missense AMH 1 81244 1.23086E-5 40622 0 1.33412E-5
19-2249511-C-T p.Gly60Gly synonymous AMH 7 81184 8.62239E-5 40592 0 0.00151668
19-2249512-G-A p.Gly61Arg missense AMH 13 81182 1.60134E-4 40591 0 6.37674E-5
19-2249518-A-G p.Ser63Gly missense AMH 2 81052 2.46755E-5 40526 0 5.06073E-4
19-2249533-T-TC p.Leu70fs frameshift AMH 7 80392 8.70733E-5 40196 0 1.27804E-4
19-2249534-C-T p.Ser68Phe missense AMH 1 80470 1.2427E-5 40235 0 3.37007E-5
19-2249534-C-G p.Ser68Cys missense AMH 1 80470 1.2427E-5 40235 0 NA
19-2249542-C-T p.Arg71Trp missense AMH 6 80018 7.49831E-5 40009 0 1.47847E-4
19-2249542-C-A p.Arg71Arg synonymous AMH 1 80018 1.24972E-5 40009 0 NA
19-2249543-G-A p.Arg71Gln missense AMH 2 79998 2.50006E-5 39999 0 3.18613E-5
19-2249558-T-C p.Leu76Pro missense AMH 7 79346 8.82212E-5 39673 0 1.91229E-4
19-2249562-C-T p.Ser77Ser synonymous AMH 2 78968 2.53267E-5 39484 0 1.05724E-5
19-2249565-C-A p.Ala78Ala synonymous AMH 1 78856 1.26813E-5 39428 0 NA
19-2249575-G-A p.Ala82Thr missense AMH 2 78328 2.55337E-5 39164 0 6.37592E-5
19-2249581-C-G p.Leu84Val missense AMH 1 78130 1.27992E-5 39065 0 NA
19-2249583-G-A p.Leu84Leu synonymous AMH 2671 77824 0.034321 38912 60 0.0859471
19-2249583-G-C p.Leu84Leu synonymous AMH 7 77964 8.9785E-5 38982 0 2.05194E-4
19-2249584-G-C p.Gly85Arg missense AMH 1 77910 1.28353E-5 38955 0 NA
19-2249588-C-T p.Ala86Val missense AMH 3 77656 3.86319E-5 38828 0 5.80808E-6
19-2249589-C-T p.Ala86Ala synonymous AMH 31 77530 3.99845E-4 38765 0 0.00105223
19-2249590-G-A p.Val87Met missense AMH 1 77600 1.28866E-5 38800 0 NA
19-2249590-G-T p.Val87Leu missense AMH 1 77600 1.28866E-5 38800 0 NA
19-2249595-G-A p.Gln88Gln synonymous AMH 1 77456 1.29106E-5 38728 0 NA
19-2249599-G-A p.Ala90Thr missense AMH 1 76898 1.30042E-5 38449 0 NA
19-2249602-C-T p.Arg91Cys missense AMH 12 76798 1.56254E-4 38399 0 0.00127877
19-2249603-G-A p.Arg91His missense AMH 1 76690 1.30395E-5 38345 0 1.23718E-5
19-2249604-C-T p.Arg91Arg synonymous AMH 4 76692 5.21567E-5 38346 0 1.27527E-4
19-2249612-C-T p.Pro94Leu missense AMH 5 76024 6.57687E-5 38012 0 0.00152905
19-2249614-C-T p.Arg95* stop_gained AMH 1 75892 1.31766E-5 37946 0 6.55669E-6
19-2249615-G-A p.Arg95Gln missense AMH 5 75740 6.60153E-5 37870 0 3.76632E-4
19-2249624-C-T p.Ala98Val missense AMH 2 75130 2.66205E-5 37565 0 4.42282E-5
19-2249624-CCA-C p.Thr99fs frameshift AMH 1 75130 1.33103E-5 37565 0 NA
19-2249626-A-T p.Thr99Ser missense AMH 29 75088 3.86214E-4 37544 0 4.424E-4
19-2249631-C-T p.Phe100Phe synonymous AMH 73 74610 9.78421E-4 37305 1 0.00481722
19-2249634-G-A p.Gly101Gly synonymous AMH 2693 74080 0.0363526 37040 60 0.107486
19-2249635-G-A p.Val102Ile missense AMH 106 74130 0.00142992 37065 0 0.0031248
19-2249637-C-G p.Val102Val synonymous AMH 1 73854 1.35402E-5 36927 0 NA
19-2249646-C-T p.Thr105Thr synonymous AMH 10 72676 1.37597E-4 36338 0 6.26566E-4
19-2249647-G-A p.Gly106Ser missense AMH 11 72640 1.51432E-4 36320 0 0.00144547
19-2249660-C-A p.Ala110Asp missense AMH 1 70864 1.41115E-5 35432 0 2.28704E-5
19-2249664-C-T p.Ala111Ala synonymous AMH 1 70422 1.42001E-5 35211 0 7.4324E-6
19-2249667-G-T p.Leu112Phe missense AMH 1 69790 1.43287E-5 34895 0 NA
19-2249669-CCT-C p.Leu115fs frameshift AMH 6 69702 8.60807E-5 34851 0 3.92773E-5
19-2249669-C-T p.Pro113Leu missense AMH 2 69702 2.86936E-5 34851 0 3.92773E-5
19-2249670-C-T p.Pro113Pro synonymous AMH 1 69688 1.43497E-5 34844 0 3.96888E-5
19-2249673-T-C p.Ser114Ser synonymous AMH 2 69270 2.88725E-5 34635 0 3.9733E-5
19-2249674-C-T p.Leu115Leu synonymous AMH 1 69204 1.445E-5 34602 0 3.97488E-5
19-2249677-C-T p.Arg116Trp missense AMH 3 68278 4.3938E-5 34139 0 7.65697E-5
19-2249680-C-T p.Arg117Trp missense AMH 4 66862 5.98247E-5 33431 0 3.4642E-4
19-2249681-G-A p.Arg117Gln missense AMH 5 66548 7.51337E-5 33274 0 0.0022749
19-2249690-C-T p.Ala120Val missense AMH 2 63992 3.12539E-5 31996 0 3.38662E-5
19-2249699-G-A p.Arg123Gln missense AMH 3 62962 4.76478E-5 31481 0 0.00111228
19-2249707-G-T p.Gly126Trp missense AMH 1 62418 1.6021E-5 31209 0 NA
19-2249716-C-T p.Arg129Cys missense AMH 6 60830 9.86355E-5 30415 0 7.41987E-5
19-2249717-G-A p.Arg129His missense AMH 2 60800 3.28947E-5 30400 0 1.41201E-5
19-2249722-G-C p.Val131Leu missense AMH 4 61278 6.52763E-5 30639 0 0.00101626
19-2249731-C-A p.His134Asn missense AMH 4 60648 6.59544E-5 30324 0 4.62321E-5
19-2249736-G-T p.Leu135Leu synonymous AMH 1 60448 1.65431E-5 30224 0 NA
19-2249736-G-C p.Leu135Leu synonymous AMH 3 60448 4.96294E-5 30224 0 6.37674E-5
19-2249746-A-G c.412+3A>G splice_region AMH 1 59824 1.67157E-5 29912 0 NA
19-2250328-G-A c.413-8G>A splice_region AMH 1 79952 1.25075E-5 39976 0 4.60575E-6
19-2250347-C-G p.Pro142Ala missense AMH 1 80492 1.24236E-5 40246 0 NA
19-2250350-A-G p.Thr143Ala missense AMH 3 80656 3.7195E-5 40328 0 4.51386E-6
19-2250351-C-T p.Thr143Ile missense AMH 417 80636 0.00517139 40318 2 0.0101192
19-2250353-C-G p.Pro144Ala missense AMH 4 80708 4.95614E-5 40354 0 NA
19-2250357-C-T p.Ser145Leu missense AMH 1 80754 1.23833E-5 40377 0 8.48212E-5
19-2250358-G-A p.Ser145Ser synonymous AMH 1 80772 1.23805E-5 40386 0 NA
19-2250361-G-A p.Leu146Leu synonymous AMH 2 80842 2.47396E-5 40421 0 3.19101E-5
19-2250374-C-T p.Pro151Ser missense AMH 2 80870 2.4731E-5 40435 0 9.57304E-5
19-2250378-C-T p.Pro152Leu missense AMH 1 80892 1.23622E-5 40446 0 4.75308E-5
19-2250381-C-T p.Pro153Leu missense AMH 1 80912 1.23591E-5 40456 0 NA
19-2250386-GGAGCTGGCCCCCCA-G p.Pro158fs frameshift AMH 2 80962 2.47029E-5 40481 0 2.56726E-5
19-2250389-G-A p.Ala156Thr missense AMH 42 80956 5.188E-4 40478 0 7.3599E-4
19-2250394-C-G p.Gly157Gly synonymous AMH 1 80912 1.23591E-5 40456 0 NA
19-2250394-C-T p.Gly157Gly synonymous AMH 1 80912 1.23591E-5 40456 0 1.27575E-4
19-2250397-C-G p.Pro158Pro synonymous AMH 1 80922 1.23576E-5 40461 0 NA
19-2250398-C-T p.Pro159Ser missense AMH 3 80908 3.70792E-5 40454 0 1.57193E-5
19-2250403-G-C p.Glu160Asp missense AMH 1 80884 1.23634E-5 40442 0 3.85026E-5
19-2250423-A-G p.Tyr167Cys missense AMH 5 80802 6.18797E-5 40401 0 4.20274E-5
19-2250425-C-T p.Pro168Ser missense AMH 1 80832 1.23713E-5 40416 0 NA
19-2250425-C-A p.Pro168Thr missense AMH 3 80832 3.7114E-5 40416 0 4.36414E-4
19-2250435-G-T p.Gly171Val missense AMH 1 80764 1.23818E-5 40382 0 NA
19-2250443-G-A p.Val174Ile missense AMH 1 80722 1.23882E-5 40361 0 6.29097E-6
19-2250453-C-T p.Thr177Met missense AMH 2 80534 2.48342E-5 40267 0 5.31745E-5
19-2250456-G-T p.Arg178Met missense AMH 1 80530 1.24177E-5 40265 0 NA
19-2250458-G-A p.Ala179Thr missense AMH 2 80432 2.48657E-5 40216 0 5.78867E-5
19-2250468-C-T p.Pro182Leu missense AMH 4 80080 4.995E-5 40040 0 0.00104493
19-2250469-G-A p.Pro182Pro synonymous AMH 4041 79856 0.0506036 39928 117 0.0741127
19-2250476-C-G p.Gln185Glu missense+splice_region AMH 38 79938 4.75368E-4 39969 0 0.00421496
19-2250479-G-T c.555+1G>T splice_donor AMH 3 79790 3.75987E-5 39895 0 9.56694E-5
19-2250483-C-CA c.555+6dupA splice_region AMH 2 79600 2.51256E-5 39800 0 1.27575E-4
19-2250647-G-A c.556-4G>A splice_region AMH 1 61104 1.63655E-5 30552 0 2.19603E-5
19-2250656-C-G p.Leu140Val missense AMH 1 60254 1.65964E-5 30127 0 NA
19-2250661-C-T p.Pro189Leu missense AMH 13 59608 2.18092E-4 29804 0 7.97143E-4
19-2250666-C-G p.Arg191Gly missense AMH 1 58674 1.70433E-5 29337 0 3.18837E-5
19-2250666-C-T p.Arg191* stop_gained AMH 1 58674 1.70433E-5 29337 0 3.18837E-5
19-2250669-G-C p.Asp192His missense AMH 1 58586 1.70689E-5 29293 0 3.18796E-5
19-2250670-A-G p.Asp192Gly missense AMH 11 58256 1.88822E-4 29128 0 2.26552E-4
19-2250680-C-T p.Pro148Ser missense AMH 1 57010 1.75408E-5 28505 0 4.01606E-4
19-2250681-C-G p.Leu196Val missense AMH 2 57016 3.50779E-5 28508 0 NA
19-2250687-T-G p.Leu198Val missense AMH 1 56138 1.78132E-5 28069 0 NA
19-2250692-G-T p.Gly152Cys missense AMH 2 54822 3.64817E-5 27411 0 5.8707E-5
19-2250700-G-A p.Arg202His missense AMH 1 52876 1.89122E-5 26438 0 NA
19-2250712-C-T p.Ala206Val missense AMH 1 51022 1.95994E-5 25511 0 8.55871E-5
19-2250712-C-A p.Ala206Asp missense AMH 2 51022 3.91988E-5 25511 0 1.48524E-5
19-2250720-G-C p.Gly209Arg missense AMH 5 49600 1.00806E-4 24800 0 7.47239E-6
19-2250720-G-A p.Gly209Ser missense AMH 4 49600 8.06452E-5 24800 0 5.39957E-4
19-2250727-G-A p.Gly211Glu missense AMH 1 48776 2.05019E-5 24388 0 NA
19-2250732-G-A p.Ala213Thr missense AMH 1 48024 2.08229E-5 24012 0 NA
19-2250747-C-A p.Ala170Asp missense+splice_region AMH 2 46280 4.32152E-5 23140 0 2.63528E-4
19-2250750-C-G p.Arg219Gly missense AMH 1 45824 2.18226E-5 22912 0 NA
19-2250751-G-A p.Arg219His missense AMH 3 45740 6.55881E-5 22870 0 3.19101E-5
19-2250840-C-CA c.665-8_665-7insA splice_region AMH 33 42704 7.72761E-4 21352 0 0.00107055
19-2250843-C-G c.665-5C>G splice_region AMH 1 42688 2.34258E-5 21344 0 5.17384E-5
19-2250859-A-G p.Ser226Gly missense AMH 1 42426 2.35705E-5 21213 0 NA
19-2250865-G-T p.Ala228Ser missense AMH 1 42258 2.36642E-5 21129 0 2.51446E-4
19-2250868-C-T p.Arg229Trp missense AMH 2 42304 4.72769E-5 21152 0 NA
19-2250870-G-A p.Arg229Arg synonymous AMH 3 42254 7.09992E-5 21127 0 3.58192E-5
19-2250889-G-C p.Gly236Arg missense AMH 4 41854 9.55703E-5 20927 0 1.9151E-4
19-2250895-G-T p.Asp238Tyr missense AMH 1 41642 2.40142E-5 20821 0 NA
19-2250897-C-A p.Asp238Glu missense AMH 4 41680 9.59693E-5 20840 0 6.26566E-4
19-2250942-G-A p.Pro253Pro synonymous AMH 2 41070 4.86973E-5 20535 0 5.7241E-5
19-2250949-G-A p.Glu256Lys missense AMH 2 40920 4.88759E-5 20460 0 NA
19-2250964-C-T p.Pro261Ser missense AMH 1 40784 2.45194E-5 20392 0 6.38325E-5
19-2250969-G-T p.Ala262Ala synonymous AMH 1 40720 2.4558E-5 20360 0 NA
19-2250973-G-C p.Gly264Arg missense AMH 11 40700 2.7027E-4 20350 0 4.1507E-4
19-2250977-A-G p.Gln265Arg missense AMH 1 40654 2.45978E-5 20327 0 NA
19-2250985-A-G p.Thr268Ala missense AMH 34 40592 8.37603E-4 20296 0 5.30223E-4
19-2250988-G-A p.Val269Met missense AMH 1 40566 2.46512E-5 20283 0 1.78952E-5
19-2250990-G-T p.Val269Val synonymous AMH 1 40564 2.46524E-5 20282 0 NA
19-2250991-C-T p.Pro270Ser missense AMH 19 40560 4.68442E-4 20280 1 0.00117223
19-2250997-C-T p.Pro272Ser missense AMH 2 40540 4.9334E-5 20270 0 7.22609E-5
19-2250997-C-G p.Pro272Ala missense AMH 1 40540 2.4667E-5 20270 0 NA
19-2251090-G-T c.825-8G>T splice_region AMH 1 41024 2.4376E-5 20512 0 NA
19-2251104-C-A p.Ser277Ser synonymous AMH 1 41132 2.4312E-5 20566 0 1.37612E-5
19-2251104-C-G p.Ser277Ser synonymous AMH 1 41132 2.4312E-5 20566 0 3.20061E-5
19-2251107-G-A p.Ala278Ala synonymous AMH 124 41196 0.00301 20598 2 0.00697957
19-2251108-G-A p.Glu279Lys missense AMH 1 41240 2.42483E-5 20620 0 6.8825E-6
19-2251113-C-T p.Leu280Leu synonymous AMH 1 41346 2.41861E-5 20673 0 NA
19-2251120-T-C p.Ser283Pro missense AMH 1 41346 2.41861E-5 20673 0 NA
19-2251123-C-T p.Pro284Ser missense AMH 1 41378 2.41674E-5 20689 0 3.20123E-5
19-2251123-C-A p.Pro284Thr missense AMH 2 41378 4.83349E-5 20689 0 3.52135E-4
19-2251125-A-G p.Pro284Pro synonymous AMH 2 41374 4.83395E-5 20687 0 0.0057232
19-2251126-C-T p.Pro285Ser missense AMH 1 41400 2.41546E-5 20700 0 5.20833E-4
19-2251129-A-G p.Ser286Gly missense AMH 1 41342 2.41885E-5 20671 0 3.20431E-5
19-2251137-C-G p.Asp288Glu missense AMH 66 41286 0.0015986 20643 0 0.00191889
19-2251149-G-A p.Glu292Glu synonymous AMH 2 41160 4.85909E-5 20580 0 2.35036E-4
19-2251162-C-T p.Leu297Leu synonymous AMH 1 40902 2.44487E-5 20451 0 NA
19-2251178-G-A p.Arg302Gln missense AMH 3 40600 7.38916E-5 20300 0 9.61662E-5
19-2251179-G-A p.Arg302Arg synonymous AMH 20 40566 4.93024E-4 20283 0 2.77572E-4
19-2251182-C-T p.Val303Val synonymous AMH 15 40508 3.70297E-4 20254 0 7.68935E-4
19-2251182-C-A p.Val303Val synonymous AMH 2 40508 4.9373E-5 20254 0 0.00236686
19-2251188-G-C p.Pro305Pro synonymous AMH 1 40422 2.4739E-5 20211 0 NA
19-2251203-G-A p.Ala310Ala synonymous AMH 4 39970 1.00075E-4 19985 0 1.60236E-4
19-2251208-G-T p.Arg312Leu missense AMH 2 39932 5.00851E-5 19966 0 NA
19-2251208-G-A p.Arg312His missense AMH 1 39932 2.50426E-5 19966 0 3.20307E-5
19-2251214-C-G p.Ala314Gly missense AMH 1 39866 2.5084E-5 19933 0 9.73198E-6
19-2251221-T-C p.Asp316Asp synonymous AMH 1 39784 2.51357E-5 19892 0 9.78167E-6
19-2251223-C-G p.Pro317Arg missense AMH 32 39756 8.0491E-4 19878 0 0.00128131
19-2251224-G-A p.Pro317Pro synonymous AMH 1 39720 2.51762E-5 19860 0 NA
19-2251229-C-T p.Ala319Val missense AMH 18 39652 4.53949E-4 19826 0 0.00181488
19-2251238-G-A p.Gly322Asp missense AMH 1 39592 2.52576E-5 19796 0 1.97095E-5
19-2251238-G-T p.Gly322Val missense AMH 2 39592 5.05153E-5 19796 0 0.00114855
19-2251240-T-C p.Phe323Leu missense AMH 28 39566 7.07678E-4 19783 0 3.84566E-4
19-2251247-A-G p.Gln325Arg missense AMH 373 39468 0.00945069 19734 10 0.0277778
19-2251254-A-G p.Leu327Leu synonymous AMH 2 39502 5.06303E-5 19751 0 NA
19-2251257-C-T p.Val328Val synonymous AMH 1 39478 2.53306E-5 19739 0 2.88406E-5
19-2251257-C-G p.Val328Val synonymous AMH 2 39478 5.06611E-5 19739 0 9.61354E-6
19-2251264-T-C p.Ser331Pro missense AMH 15 39418 3.80537E-4 19709 1 7.37416E-4
19-2251266-G-A p.Ser331Ser synonymous AMH 1 39368 2.54013E-5 19684 0 NA
19-2251267-G-C p.Asp332His missense AMH 1 39376 2.53962E-5 19688 0 9.46611E-5
19-2251278-G-T p.Ala335Ala synonymous AMH 1 39360 2.54065E-5 19680 0 NA
19-2251285-C-T p.Arg338Cys missense AMH 1 39300 2.54453E-5 19650 0 6.40943E-5
19-2251286-G-A p.Arg338His missense AMH 3 39292 7.63514E-5 19646 0 0.00128205
19-2251287-C-T p.Arg338Arg synonymous AMH 6 39318 1.52602E-4 19659 0 0.00128041
19-2251287-C-A p.Arg338Arg synonymous AMH 1 39318 2.54336E-5 19659 0 NA
19-2251288-C-T p.Leu339Leu synonymous AMH 2 39340 5.08388E-5 19670 0 3.20369E-5
19-2251289-T-C p.Leu339Pro missense AMH 1 39330 2.54259E-5 19665 0 1.60298E-4
19-2251306-C-T p.Pro345Ser missense AMH 1 39294 2.54492E-5 19647 0 3.20533E-5
19-2251307-CGCT-C p.Leu350del conservative_inframe_deletion AMH 2 39244 5.09632E-5 19622 0 0.00856164
19-2251307-C-CGCTGCT p.Leu349_Leu350dup conservative_inframe_insertion AMH 1 39282 2.5457E-5 19641 0 NA
19-2251308-G-A p.Pro345Pro synonymous AMH 1 39254 2.54751E-5 19627 0 6.23752E-5
19-2251327-C-T p.Pro352Ser missense AMH 39 39210 9.94644E-4 19605 0 7.80031E-4
19-2251329-C-T p.Pro352Pro synonymous AMH 1 39218 2.54985E-5 19609 0 2.07943E-5
19-2251332-T-G p.Thr353Thr synonymous AMH 4 39182 1.02088E-4 19591 0 3.21192E-4
19-2251357-C-T p.Pro362Ser missense AMH 1 39158 2.55376E-5 19579 0 5.64423E-5
19-2251357-C-A p.Pro362Thr missense AMH 1 39158 2.55376E-5 19579 0 NA
19-2251358-C-T p.Pro362Leu missense AMH 5 39158 1.27688E-4 19579 0 2.07641E-4
19-2251373-C-A p.Thr367Lys missense AMH 1 39092 2.55807E-5 19546 0 1.30794E-5
19-2251384-T-A p.Trp371Arg missense AMH 1 38942 2.56792E-5 19471 0 NA
19-2251388-C-T p.Ala372Val missense AMH 15 38956 3.8505E-4 19478 0 0.00126231
19-2251399-G-A p.Ala376Thr missense AMH 4 38874 1.02897E-4 19437 0 3.23792E-5
19-2251403-G-A p.Arg377His missense AMH 1 38486 2.59835E-5 19243 0 1.59449E-5
19-2251408-G-A p.Val379Met missense AMH 1 38536 2.59498E-5 19268 0 NA
19-2251414-G-T p.Ala381Ser missense AMH 1 38618 2.58947E-5 19309 0 1.51446E-5
19-2251419-ACTGCAAGCGGCGGCTGCCGAG-A p.Gln384_Leu390del disruptive_inframe_deletion AMH 1 38624 2.58906E-5 19312 0 NA
19-2251423-C-T p.Gln384* stop_gained AMH 1 38466 2.5997E-5 19233 0 6.48214E-5
19-2251428-G-A p.Ala385Ala synonymous AMH 3 38358 7.82105E-5 19179 0 3.26573E-5
19-2251429-G-A p.Ala386Thr missense AMH 2 38362 5.21349E-5 19181 0 NA
19-2251430-CGGCTGCCG-C p.Glu389fs frameshift AMH 1 38286 2.61192E-5 19143 0 NA
19-2251431-G-C p.Ala386Ala synonymous AMH 1 38288 2.61178E-5 19144 0 NA
19-2251431-G-A p.Ala386Ala synonymous AMH 1 38288 2.61178E-5 19144 0 1.52532E-4
19-2251452-C-G p.Leu393Leu synonymous AMH 1 38310 2.61028E-5 19155 0 NA
19-2251455-G-A p.Pro394Pro synonymous AMH 11 38272 2.87416E-4 19136 0 6.9541E-4
19-2251466-C-T p.Pro398Leu missense AMH 40 37784 0.00105865 18892 0 7.14193E-4
19-2251466-C-G p.Pro398Arg missense AMH 5 37784 1.32331E-4 18892 0 1.62317E-4
19-2251468-GC-AA p.Ala399Asn missense AMH 2 37748 5.29829E-5 18874 0 NA
19-2251471-A-G p.Thr400Ala missense AMH 1 37460 2.66951E-5 18730 0 NA
19-2251472-C-T p.Thr400Ile missense AMH 1 37480 2.66809E-5 18740 0 2.47991E-5
19-2251474-G-A p.Ala401Thr missense AMH 1 37484 2.6678E-5 18742 0 NA
19-2251475-C-T p.Ala401Val missense AMH 1 37472 2.66866E-5 18736 0 NA
19-2251483-C-T p.Leu404Leu synonymous AMH 1 36988 2.70358E-5 18494 0 NA
19-2251486-G-C p.Ala405Pro missense AMH 10 36874 2.71194E-4 18437 0 2.55232E-4
19-2251488-G-A p.Ala405Ala synonymous AMH 1 36850 2.7137E-5 18425 0 NA
19-2251488-G-C p.Ala405Ala synonymous AMH 1 36850 2.7137E-5 18425 0 NA
19-2251489-C-T p.Arg406Cys missense AMH 1 36788 2.71828E-5 18394 0 NA
19-2251498-G-A p.Ala409Thr missense AMH 1 36752 2.72094E-5 18376 0 NA
19-2251512-T-A p.Gly413Gly synonymous AMH 30283 34828 0.869502 17414 13184 0.885
19-2251516-C-A p.Pro415Thr missense AMH 1 35624 2.8071E-5 17812 0 NA
19-2251523-G-A p.Gly417Asp missense AMH 3 35586 8.43028E-5 17793 0 NA
19-2251526-T-C p.Leu418Pro missense AMH 2 35568 5.62303E-5 17784 0 NA
19-2251528-G-A p.Gly419Ser missense AMH 14 35564 3.93657E-4 17782 0 0.00112108
19-2251530-C-T p.Gly419Gly synonymous AMH 1 35592 2.80962E-5 17796 0 NA
19-2251537-C-T p.Leu422Leu synonymous AMH 1 35568 2.81152E-5 17784 0 NA
19-2251571-G-A p.Gly433Asp missense AMH 1 34804 2.87323E-5 17402 0 NA
19-2251581-G-T p.Val436Val synonymous AMH 1 34410 2.90613E-5 17205 0 9.56389E-5
19-2251591-G-A p.Gly440Arg missense AMH 1 34556 2.89385E-5 17278 0 NA
19-2251595-G-T p.Arg441Leu missense AMH 1 34944 2.86172E-5 17472 0 NA
19-2251595-GG-TA p.Arg441Leu missense AMH 3 34944 8.58517E-5 17472 0 NA
19-2251595-G-A p.Arg441Gln missense AMH 1 34944 2.86172E-5 17472 0 NA
19-2251596-G-A p.Arg441Arg synonymous AMH 1 34902 2.86517E-5 17451 0 NA
19-2251612-G-C p.Gly447Arg missense AMH 3 39780 7.54148E-5 19890 0 NA
19-2251625-G-A p.Arg451His missense AMH 2 42478 4.70832E-5 21239 0 6.27085E-6
19-2251634-G-A p.Gly454Glu missense AMH 1 43720 2.28728E-5 21860 0 4.80862E-5
19-2251638-C-T p.Ala455Ala synonymous AMH 1 44244 2.26019E-5 22122 0 1.89122E-5
19-2251642-G-T p.Ala457Ser missense AMH 6 44896 1.33642E-4 22448 0 3.05232E-5
19-2251645-G-T p.Ala458Ser missense AMH 1 45434 2.20099E-5 22717 0 4.64749E-6
19-2251648-G-C p.Asp459His missense AMH 1 46004 2.17372E-5 23002 0 4.5544E-6
19-2251651-G-C p.Gly460Arg missense AMH 2 46546 4.29682E-5 23273 0 1.09905E-5
19-2251662-G-C p.Ala463Ala synonymous AMH 2 48574 4.11743E-5 24287 0 4.31839E-4
19-2251678-G-A p.Val469Ile missense AMH 1 52156 1.91732E-5 26078 0 NA
19-2251681-G-A p.Asp470Asn missense AMH 3 52684 5.69433E-5 26342 0 9.14445E-6
19-2251689-C-T p.Arg472Arg synonymous AMH 3 54190 5.53608E-5 27095 0 NA
19-2251701-C-G p.Ser476Ser synonymous AMH 1 56902 1.75741E-5 28451 0 3.20718E-5
19-2251702-G-A p.Val477Ile missense AMH 1 57170 1.74917E-5 28585 0 NA
19-2251713-C-G p.Pro480Pro synonymous AMH 1 58582 1.70701E-5 29291 0 2.65346E-5
19-2251714-G-A p.Glu481Lys missense AMH 1 58432 1.71139E-5 29216 0 NA
19-2251722-C-T p.Tyr483Tyr synonymous AMH 1 59084 1.69251E-5 29542 0 NA
19-2251725-G-A p.Gln484Gln synonymous AMH 1 59244 1.68793E-5 29622 0 1.76277E-5
19-2251736-G-A p.Cys488Tyr missense AMH 1 58940 1.69664E-5 29470 0 1.24528E-5
19-2251739-A-C p.Gln489Pro missense AMH 1 58626 1.70573E-5 29313 0 NA
19-2251751-G-A p.Gly493Asp missense AMH 3 57132 5.251E-5 28566 0 NA
19-2251764-C-T p.Ser497Ser synonymous AMH 3 54910 5.46349E-5 27455 0 8.909E-5
19-2251764-C-G p.Ser497Ser synonymous AMH 1 54912 1.8211E-5 27456 0 1.7818E-5
19-2251774-C-T p.Pro501Ser missense AMH 1 53506 1.86895E-5 26753 0 NA
19-2251791-C-G p.His506Gln missense AMH 1 50164 1.99346E-5 25082 0 4.51369E-5
19-2251796-T-C p.Val508Ala missense AMH 3 49068 6.11396E-5 24534 0 3.19448E-5
19-2251811-T-C p.Met513Thr missense AMH 3 46908 6.3955E-5 23454 0 5.05561E-4
19-2251817-T-C p.Val515Ala missense AMH 42064 42924 0.979965 21462 20618 0.987066
19-2251824-G-A p.Gly517Gly synonymous AMH 1 44734 2.23544E-5 22367 0 NA
19-2251825-G-A p.Ala518Thr missense AMH 14 44560 3.14183E-4 22280 0 2.65802E-4
19-2251829-C-T p.Ala519Val missense AMH 109 44116 0.00247076 22058 0 0.00253036
19-2251835-C-T p.Ala521Val missense AMH 7 43612 1.60506E-4 21806 0 2.60954E-4
19-2251836-G-T p.Ala521Ala synonymous AMH 9 43466 2.07058E-4 21733 0 5.12656E-4
19-2251838-G-A p.Arg522His missense AMH 1 43396 2.30436E-5 21698 0 NA
19-2251845-C-T p.Pro524Pro synonymous AMH 1 43242 2.31257E-5 21621 0 2.85063E-5
19-2251853-T-TGC p.Pro528fs frameshift AMH 1 42772 2.33798E-5 21386 0 NA
19-2251857-C-T p.Pro528Pro synonymous AMH 3 42758 7.01623E-5 21379 0 3.19366E-5
19-2251858-A-G p.Thr529Ala missense AMH 1 42636 2.34544E-5 21318 0 4.83082E-6
19-2251860-C-A p.Thr529Thr synonymous AMH 2 42628 4.69175E-5 21314 0 3.35379E-5
19-2251863-C-G p.Ala530Ala synonymous AMH 1 42632 2.34566E-5 21316 0 NA
19-2251876-C-G p.Leu535Val missense AMH 5 42424 1.17858E-4 21212 0 6.66557E-5
19-2251893-G-A p.Ser540Ser synonymous AMH 2 42208 4.73844E-5 21104 0 1.83227E-4
19-2251900-C-T p.Arg543Cys missense AMH 1 41974 2.38243E-5 20987 0 2.38041E-5
19-2251902-C-T p.Arg543Arg synonymous AMH 1 42024 2.37959E-5 21012 0 NA
19-2251905-C-T p.Ile544Ile synonymous AMH 4 42032 9.51656E-5 21016 0 2.23414E-4
19-2251920-G-A p.Val549Val synonymous AMH 1 41836 2.39029E-5 20918 0 1.28399E-5
19-2251928-T-A p.Met552Lys missense AMH 1 41864 2.38869E-5 20932 0 NA
19-2251928-T-C p.Met552Thr missense AMH 1 41864 2.38869E-5 20932 0 3.19101E-5
19-2251930-G-T p.Val553Leu missense AMH 15 41876 3.582E-4 20938 0 4.96524E-4
19-2251931-T-G p.Val553Gly missense AMH 1 41810 2.39177E-5 20905 0 NA
19-2251939-G-A p.Glu556Lys missense AMH 1 41784 2.39326E-5 20892 0 6.25E-4