Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-104096893-T-C c.-885T>C 5_prime_UTR_premature_start_codon_gain AMY2B 1 10610 9.42507E-5 5305 0 NA
1-104096944-C-G c.-834C>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 20644 4.84402E-5 10322 0 NA
1-104097060-A-T c.-718A>T 5_prime_UTR_premature_start_codon_gain AMY2B 1 37464 2.66923E-5 18732 0 NA
1-104097090-A-G c.-688A>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 40166 2.48967E-5 20083 0 NA
1-104097220-T-G c.-558T>G 5_prime_UTR_premature_start_codon_gain AMY2B 2 41830 4.78126E-5 20915 0 3.18512E-5
1-104097321-A-G c.-457A>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 42952 2.32818E-5 21476 0 NA
1-104097354-T-C c.-584T>C 5_prime_UTR_premature_start_codon_gain AMY2B 1 43416 2.3033E-5 21708 0 3.18532E-5
1-104097405-C-T c.-533C>T 5_prime_UTR_premature_start_codon_gain AMY2B 4 43688 9.15583E-5 21844 0 3.18654E-5
1-104097497-A-G c.-441A>G 5_prime_UTR_premature_start_codon_gain AMY2B 2 40560 4.93097E-5 20280 0 NA
1-104097536-T-G c.-402T>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 33930 2.94724E-5 16965 0 NA
1-104097611-C-T c.-327C>T 5_prime_UTR_premature_start_codon_gain AMY2B 3 22088 1.3582E-4 11044 0 6.39141E-5
1-104097618-A-G c.-320A>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 20780 4.81232E-5 10390 0 NA
1-104097627-A-G c.-311A>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 19088 5.23889E-5 9544 0 NA
1-104097644-A-C c.-294A>C 5_prime_UTR_premature_start_codon_gain AMY2B 2 15210 1.31492E-4 7605 0 NA
1-104097688-T-G c.-250T>G 5_prime_UTR_premature_start_codon_gain AMY2B 48 8084 0.00593765 4042 0 0.010206
1-104097736-G-A c.-207+5G>A splice_region AMY2B 2 5422 3.68868E-4 2711 0 1.60143E-4
1-104108144-A-G c.-119A>G 5_prime_UTR_premature_start_codon_gain AMY2B 1 3030 3.30033E-4 1515 0 NA
1-104108181-A-G c.-82A>G 5_prime_UTR_premature_start_codon_gain AMY2B 46 2996 0.0153538 1498 5 0.0579354
1-104108218-T-C c.-47+2T>C splice_donor AMY2B 6 2944 0.00203804 1472 0 0.00328046
1-104114171-T-C c.-46-8T>C splice_region AMY2B 2 79372 2.51978E-5 39686 0 6.3674E-5
1-104114174-T-G c.-46-5T>G splice_region AMY2B 1 79484 1.25811E-5 39742 0 NA
1-104114177-A-G c.-46-2A>G splice_acceptor AMY2B 1 79600 1.25628E-5 39800 0 NA
1-104114185-A-G c.-40A>G 5_prime_UTR_premature_start_codon_gain AMY2B 6 79914 7.50807E-5 39957 0 1.14247E-5
1-104114234-T-C p.Phe4Leu missense AMY2B 1 80528 1.2418E-5 40264 0 3.18431E-5
1-104114252-A-G p.Ile10Val missense AMY2B 1 80652 1.23989E-5 40326 0 6.25E-4
1-104114258-T-G p.Phe12Val missense AMY2B 2 80650 2.47985E-5 40325 0 3.18532E-5
1-104114262-G-T p.Cys13Phe missense AMY2B 1 80670 1.23962E-5 40335 0 NA
1-104114263-C-T p.Cys13Cys synonymous AMY2B 1 80670 1.23962E-5 40335 0 8.77378E-6
1-104114264-T-A p.Trp14Arg missense AMY2B 1 80672 1.23959E-5 40336 0 NA
1-104114279-C-T p.Pro19Ser missense AMY2B 3 80732 3.716E-5 40366 0 7.67381E-5
1-104114282-A-G p.Asn20Asp missense AMY2B 2 80738 2.47715E-5 40369 0 3.6126E-5
1-104114283-A-G p.Asn20Ser missense AMY2B 9 80744 1.11463E-4 40372 0 3.18431E-4
1-104114289-AAC-A p.Gln23fs frameshift AMY2B 1 80764 1.23818E-5 40382 0 NA
1-104114297-C-T p.Arg25Trp missense AMY2B 9 80786 1.11405E-4 40393 0 6.18047E-4
1-104114298-G-A p.Arg25Gln missense AMY2B 41 80752 5.07727E-4 40376 1 0.0014333
1-104114299-G-A p.Arg25Arg synonymous AMY2B 1 80796 1.23769E-5 40398 0 3.33256E-5
1-104114310-T-C p.Val29Ala missense AMY2B 1 80804 1.23756E-5 40402 0 2.39678E-5
1-104114314-T-A p.His30Gln missense AMY2B 1 80810 1.23747E-5 40405 0 8.2927E-6
1-104114315-C-T p.Leu31Leu synonymous AMY2B 463 80774 0.00573204 40387 1 0.00570064
1-104114328-G-A p.Arg35Gln missense AMY2B 2 80822 2.47457E-5 40411 0 6.62175E-5
1-104114328-G-T p.Arg35Leu missense AMY2B 1 80824 1.23726E-5 40412 0 NA
1-104114343-C-T p.Ala40Val missense AMY2B 1 80862 1.23667E-5 40431 0 1.6536E-5
1-104114356-G-A p.Glu44Glu synonymous AMY2B 1 80890 1.23625E-5 40445 0 1.65243E-5
1-104114357-C-T p.Arg45* stop_gained AMY2B 3 80890 3.70874E-5 40445 0 9.55779E-5
1-104114358-G-A p.Arg45Gln missense AMY2B 1 80900 1.23609E-5 40450 0 1.59566E-5
1-104114368-T-C p.Ala48Ala synonymous AMY2B 1 80914 1.23588E-5 40457 0 NA
1-104114369-C-T p.Pro49Ser missense AMY2B 1 80914 1.23588E-5 40457 0 1.59276E-4
1-104114371-C-G p.Pro49Pro synonymous AMY2B 134 80824 0.00165792 40412 0 0.0050465
1-104114376-G-A p.Gly51Glu missense AMY2B 5 80918 6.17909E-5 40459 0 3.30235E-5
1-104114387-G-T p.Val55Phe missense AMY2B 2 80920 2.47158E-5 40460 0 1.65038E-5
1-104114391-A-G p.Gln56Arg missense+splice_region AMY2B 1 80926 1.2357E-5 40463 0 3.18512E-5
1-104114393-G-T c.168+1G>T splice_donor AMY2B 1 80928 1.23567E-5 40464 0 8.25014E-6
1-104114399-A-G c.168+7A>G splice_region AMY2B 1 80924 1.23573E-5 40462 0 3.58649E-5
1-104114732-G-T p.Val57Phe missense+splice_region AMY2B 2 80916 2.4717E-5 40458 1 7.42207E-5
1-104114745-A-T p.Asn61Ile missense AMY2B 1 80914 1.23588E-5 40457 0 3.18471E-5
1-104114758-A-C p.Ala65Ala synonymous AMY2B 39 80874 4.82232E-4 40437 0 8.28184E-4
1-104114759-A-G p.Ile66Val missense AMY2B 2 80924 2.47145E-5 40462 0 3.58703E-5
1-104114765-A-T p.Asn68Tyr missense AMY2B 1 80926 1.2357E-5 40463 0 NA
1-104114789-A-T p.Arg76* stop_gained AMY2B 1 80924 1.23573E-5 40462 0 NA
1-104114795-C-A p.Gln78Lys missense AMY2B 5 80912 6.17955E-5 40456 0 8.24647E-6
1-104114799-C-G p.Pro79Arg missense AMY2B 1 80920 1.23579E-5 40460 0 2.47374E-5
1-104114808-A-G p.Tyr82Cys missense AMY2B 1 80904 1.23603E-5 40452 0 NA
1-104114812-A-G p.Lys83Lys synonymous AMY2B 1 80902 1.23606E-5 40451 0 NA
1-104114823-G-C p.Arg87Thr missense AMY2B 1 80910 1.23594E-5 40455 0 NA
1-104114824-A-G p.Arg87Arg synonymous AMY2B 10 80910 1.23594E-4 40455 0 1.71458E-4
1-104114833-T-C p.Asn90Asn synonymous AMY2B 2 80914 2.47176E-5 40457 0 3.18532E-5
1-104114838-A-G p.Asp92Gly missense AMY2B 3 80910 3.70782E-5 40455 0 2.79214E-5
1-104114866-T-C p.Cys101Cys synonymous AMY2B 1 80890 1.23625E-5 40445 0 2.80166E-5
1-104114877-G-T p.Gly105Val missense+splice_region AMY2B 2 80882 2.47274E-5 40441 0 5.615E-5
1-104114881-A-G c.315+3A>G splice_region AMY2B 34 80830 4.20636E-4 40415 0 2.40867E-4
1-104115677-C-T c.316-8C>T splice_region AMY2B 1 81282 1.23028E-5 40641 0 1.64745E-5
1-104115685-G-A p.Val106Ile missense+splice_region AMY2B 1 81366 1.22901E-5 40683 0 NA
1-104115689-G-A p.Arg107His missense AMY2B 5 81404 6.1422E-5 40702 0 3.29478E-5
1-104115694-T-C p.Tyr109His missense AMY2B 3 81462 3.6827E-5 40731 0 3.18492E-5
1-104115703-G-A p.Ala112Thr missense AMY2B 1 81592 1.22561E-5 40796 0 8.2371E-5
1-104115716-A-C p.His116Pro missense AMY2B 1 81794 1.22258E-5 40897 0 NA
1-104115722-C-G p.Ser118Cys missense AMY2B 1 81832 1.22202E-5 40916 0 1.59256E-4
1-104115743-G-A p.Gly125Glu missense AMY2B 1 81922 1.22067E-5 40961 0 NA
1-104115756-C-G p.Thr129Thr synonymous AMY2B 1 81924 1.22064E-5 40962 0 NA
1-104115783-T-G p.Ser138Arg missense AMY2B 1 81910 1.22085E-5 40955 0 1.64886E-5
1-104115792-T-C p.Phe141Phe synonymous AMY2B 3 81908 3.66265E-5 40954 0 3.18492E-5
1-104115792-T-G p.Phe141Leu missense AMY2B 3 81908 3.66265E-5 40954 0 8.24756E-6
1-104115828-T-C p.Asp153Asp synonymous AMY2B 9 81916 1.09869E-4 40958 0 7.17149E-5
1-104115841-A-G p.Thr158Ala missense AMY2B 1 81924 1.22064E-5 40962 0 NA
1-104115858-C-T p.Ile163Ile synonymous AMY2B 1 81912 1.22082E-5 40956 0 4.38251E-5
1-104115863-A-T p.Asn165Ile missense AMY2B 2 81910 2.4417E-5 40955 0 3.18715E-5
1-104115867-C-T p.Tyr166Tyr synonymous AMY2B 2 81890 2.4423E-5 40945 0 1.23807E-4
1-104115880-C-G p.Gln171Glu missense+splice_region AMY2B 2 81904 2.44188E-5 40952 0 1.19553E-5
1-104115887-ATT-A c.513+6_513+7delTT splice_region AMY2B 2 81888 2.44236E-5 40944 0 8.259E-6
1-104115889-T-A c.513+7T>A splice_region AMY2B 2 81884 2.44248E-5 40942 0 3.98568E-6
1-104115889-T-C c.513+7T>C splice_region AMY2B 1 81884 1.22124E-5 40942 0 8.25955E-6
1-104116327-C-A c.514-3C>A splice_region AMY2B 2 81872 2.44284E-5 40936 0 NA
1-104116327-C-G c.514-3C>G splice_region AMY2B 1 81872 1.22142E-5 40936 0 NA
1-104116341-T-C p.Cys175Cys synonymous AMY2B 1 81892 1.22112E-5 40946 0 8.23737E-6
1-104116342-C-T p.Arg176Cys missense AMY2B 1 81892 1.22112E-5 40946 0 3.29489E-5
1-104116343-G-A p.Arg176His missense AMY2B 13 81894 1.58742E-4 40947 0 0.00182039
1-104116345-CT-C p.Leu177fs frameshift AMY2B 1 81894 1.22109E-5 40947 0 NA
1-104116359-T-C p.Leu181Leu synonymous AMY2B 2 81912 2.44164E-5 40956 0 4.11855E-5
1-104116375-A-C p.Lys187Gln missense AMY2B 7 81922 8.54471E-5 40961 0 9.55414E-5
1-104116375-A-G p.Lys187Glu missense AMY2B 1 81922 1.22067E-5 40961 0 NA
1-104116377-A-G p.Lys187Lys synonymous AMY2B 1 81924 1.22064E-5 40962 0 8.23696E-6
1-104116381-T-C p.Tyr189His missense AMY2B 13 81924 1.58684E-4 40962 0 7.49563E-4
1-104116382-A-T p.Tyr189Phe missense AMY2B 2 81922 2.44135E-5 40961 1 8.23696E-6
1-104116383-T-C p.Tyr189Tyr synonymous AMY2B 16 81920 1.95313E-4 40960 1 1.07512E-4
1-104116384-GTGCGTTCCAAGA-G p.Arg191_Ile194del disruptive_inframe_deletion AMY2B 2 81922 2.44135E-5 40961 0 NA
1-104116387-C-T p.Arg191Cys missense AMY2B 7 81922 8.54471E-5 40961 0 7.41327E-5
1-104116388-G-A p.Arg191His missense AMY2B 8 81924 9.76515E-5 40962 0 6.25E-4
1-104116393-A-G p.Lys193Glu missense AMY2B 4 81926 4.88245E-5 40963 0 0.00182704
1-104116396-A-T p.Ile194Phe missense AMY2B 1 81926 1.22061E-5 40963 0 NA
1-104116398-T-G p.Ile194Met missense AMY2B 3 81926 3.66184E-5 40963 0 1.31403E-4
1-104116401-C-T p.Ala195Ala synonymous AMY2B 4 81924 4.88257E-5 40962 0 3.18796E-5
1-104116401-C-A p.Ala195Ala synonymous AMY2B 1 81926 1.22061E-5 40963 0 3.98191E-6
1-104116402-G-A p.Glu196Lys missense AMY2B 33 81922 4.02822E-4 40961 0 2.11041E-4
1-104116407-T-C p.Tyr197Tyr synonymous AMY2B 3 81920 3.66211E-5 40960 0 3.18613E-5
1-104116413-T-C p.Asn199Asn synonymous AMY2B 6511 80410 0.0809725 40205 387 0.116364
1-104116416-T-G p.His200Gln missense AMY2B 1 81918 1.22073E-5 40959 0 8.2371E-6
1-104116421-T-A p.Ile202Asn missense AMY2B 1 81914 1.22079E-5 40957 0 NA
1-104116429-G-C p.Gly205Arg missense AMY2B 1 81916 1.22076E-5 40958 0 NA
1-104116435-G-T p.Ala207Ser missense AMY2B 2 81912 2.44164E-5 40956 0 1.64742E-5
1-104116439-G-T p.Gly208Val missense AMY2B 1 81908 1.22088E-5 40954 0 NA
1-104116441-T-C p.Phe209Leu missense AMY2B 1 81908 1.22088E-5 40954 0 3.18512E-5
1-104116445-G-C p.Arg210Thr missense AMY2B 1 81900 1.221E-5 40950 0 NA
1-104116472-C-T p.Pro219Leu missense AMY2B 1 81892 1.22112E-5 40946 0 7.96527E-6
1-104116479-C-A p.Asp221Glu missense AMY2B 1 81896 1.22106E-5 40948 0 8.23913E-6
1-104116480-A-T p.Ile222Leu missense AMY2B 1 81900 1.221E-5 40950 0 NA
1-104116493-T-G p.Leu226Trp missense AMY2B 2 81888 2.44236E-5 40944 0 8.24022E-6
1-104116494-G-A p.Leu226Leu synonymous AMY2B 1 81890 1.22115E-5 40945 0 6.11247E-4
1-104116497-C-A p.Asp227Glu missense AMY2B 1 81894 1.22109E-5 40947 0 3.18634E-5
1-104116503-G-T p.Leu229Leu synonymous AMY2B 1 81888 1.22118E-5 40944 0 3.98302E-6
1-104116503-G-A p.Leu229Leu synonymous AMY2B 1 81888 1.22118E-5 40944 0 8.24035E-6
1-104116521-CTGG-C p.Trp236del disruptive_inframe_deletion AMY2B 2 81874 2.44278E-5 40937 0 3.18492E-5
1-104116544-C-A p.Pro243His missense AMY2B 31 81776 3.79084E-4 40888 0 6.10501E-4
1-104116550-T-TGA p.Ile245fs frameshift AMY2B 1 81784 1.22273E-5 40892 0 NA
1-104116554-C-T p.Tyr246Tyr synonymous AMY2B 8 81744 9.78665E-5 40872 0 4.77768E-4
1-104116558-G-T p.Glu248* stop_gained AMY2B 1 81734 1.22348E-5 40867 0 NA
1-104116562-T-C c.744+2T>C splice_donor AMY2B 1 81696 1.22405E-5 40848 0 NA
1-104116563-A-AATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGG c.744+3_744+4insATTGATCTGGGTGGTGAGCCAATTAAAAGCAGTGACTACTTTGGAAATGG splice_region AMY2B 2 81686 2.4484E-5 40843 1 NA
1-104116563-A-AAAAATGTTATGATTGATT c.744+3_744+4insAAAATGTTATGATTGATT splice_region AMY2B 1 81684 1.22423E-5 40842 0 NA
1-104116563-A-G c.744+3A>G splice_region AMY2B 2 81686 2.4484E-5 40843 0 2.79031E-5
1-104116564-C-T c.744+4C>T splice_region AMY2B 1 81652 1.22471E-5 40826 0 3.98635E-6
1-104116565-A-T c.744+5A>T splice_region AMY2B 11957 80572 0.148401 40286 870 0.171136
1-104116874-T-C c.745-8T>C splice_region AMY2B 1 80842 1.23698E-5 40421 0 NA
1-104116878-C-G c.745-4C>G splice_region AMY2B 1 80856 1.23677E-5 40428 0 6.37064E-5
1-104116884-A-G p.Val249Val splice_region+synonymous AMY2B 1 80896 1.23616E-5 40448 0 3.18492E-5
1-104116888-G-T p.Asp251Tyr missense AMY2B 1 80892 1.23622E-5 40446 0 8.24389E-6
1-104116892-T-G p.Leu252Arg missense AMY2B 1 80902 1.23606E-5 40451 0 6.04595E-4
1-104116897-G-C p.Gly254Arg missense AMY2B 3 80900 3.70828E-5 40450 0 1.27405E-4
1-104116903-C-T p.Pro256Ser missense AMY2B 4 80898 4.9445E-5 40449 0 1.6484E-5
1-104116920-C-T p.Asp261Asp synonymous AMY2B 332 80902 0.00410373 40451 2 0.00792602
1-104116931-A-G p.Asn265Ser missense AMY2B 1 80940 1.23548E-5 40470 0 NA
1-104116936-C-T p.Arg267Trp missense AMY2B 1 80934 1.23557E-5 40467 0 9.56328E-5
1-104116936-C-G p.Arg267Gly missense AMY2B 1 80934 1.23557E-5 40467 0 1.19494E-5
1-104116937-G-A p.Arg267Gln missense AMY2B 2 80930 2.47127E-5 40465 0 6.59381E-5
1-104116943-C-T p.Thr269Ile missense AMY2B 1 80936 1.23554E-5 40468 0 8.24294E-6
1-104116946-A-G p.Glu270Gly missense AMY2B 1 80934 1.23557E-5 40467 0 3.18471E-5
1-104116955-A-G p.Tyr273Cys missense AMY2B 6 80930 7.41381E-5 40465 0 6.36821E-5
1-104116961-C-T p.Ala275Val missense AMY2B 2 80930 2.47127E-5 40465 0 1.195E-5
1-104116964-A-T p.Lys276Ile missense AMY2B 1 80930 1.23564E-5 40465 0 NA
1-104116969-G-A p.Gly278Ser missense AMY2B 4 80932 4.94242E-5 40466 0 0.00122249
1-104116975-G-A p.Val280Ile missense AMY2B 1 80928 1.23567E-5 40464 0 NA
1-104116981-C-T p.Arg282Cys missense AMY2B 2 80912 2.47182E-5 40456 0 3.18735E-5
1-104116982-G-A p.Arg282His missense AMY2B 11 80906 1.3596E-4 40453 0 1.59337E-4
1-104116984-A-G p.Lys283Glu missense AMY2B 1 80912 1.23591E-5 40456 0 NA
1-104116989-G-A p.Trp284* stop_gained AMY2B 1 80894 1.23619E-5 40447 0 NA
1-104116993-G-A p.Gly286Arg missense AMY2B 5 80882 6.18184E-5 40441 0 1.99229E-5
1-104116996-GAGA-G p.Lys288del disruptive_inframe_deletion AMY2B 1 80868 1.23658E-5 40434 0 NA
1-104117004-G-A p.Met289Ile missense AMY2B 23 80794 2.84675E-4 40397 0 0.00123305
1-104117007-T-C p.Ser290Ser synonymous AMY2B 1 80812 1.23744E-5 40406 0 3.9874E-6
1-104117011-C-T p.Leu292Leu synonymous AMY2B 3 80768 3.71434E-5 40384 0 6.17284E-4
1-104117022-A-T c.878+7A>T splice_region AMY2B 1 80642 1.24005E-5 40321 0 3.19685E-5
1-104117841-A-G c.879-4A>G splice_region AMY2B 8 81754 9.78545E-5 40877 0 9.57426E-5
1-104117852-G-A p.Gly296Arg missense AMY2B 253 81882 0.00308981 40941 0 0.00433701
1-104117855-G-A p.Glu297Lys missense AMY2B 9 81904 1.09885E-4 40952 0 1.03545E-4
1-104117863-G-A p.Trp299* stop_gained AMY2B 2 81924 2.44129E-5 40962 0 NA
1-104117864-G-A p.Gly300Ser missense AMY2B 1 81924 1.22064E-5 40962 0 NA
1-104117872-G-A p.Met302Ile missense AMY2B 2 81924 2.44129E-5 40962 0 3.18817E-5
1-104117879-G-A p.Asp305Asn missense AMY2B 4 81938 4.88174E-5 40969 0 3.29506E-5
1-104117887-A-G p.Ala307Ala synonymous AMY2B 1 81968 1.21999E-5 40984 0 1.59291E-5
1-104117892-T-C p.Val309Ala missense AMY2B 240 81956 0.0029284 40978 2 0.0026153
1-104117900-G-C p.Asp312His missense AMY2B 3 81966 3.66005E-5 40983 0 3.98203E-6
1-104117905-C-T p.Asn313Asn synonymous AMY2B 2 81972 2.43986E-5 40986 0 3.18796E-5
1-104117918-C-T p.Arg318* stop_gained AMY2B 3 81984 3.65925E-5 40992 0 3.18979E-5
1-104117921-G-A p.Gly319Arg missense AMY2B 2699 81862 0.0329701 40931 58 0.0387779
1-104117924-C-T p.His320Tyr missense AMY2B 2 82012 2.43867E-5 41006 0 3.18959E-5
1-104117926-T-G p.His320Gln missense AMY2B 1 82016 1.21927E-5 41008 0 3.98216E-6
1-104117937-G-T p.Gly324Val missense AMY2B 1 82046 1.21883E-5 41023 0 NA
1-104117940-C-A p.Ala325Asp missense AMY2B 2 82050 2.43754E-5 41025 0 6.25E-4
1-104117945-A-G p.Ile327Val missense AMY2B 2 82044 2.43772E-5 41022 0 NA
1-104117947-T-A p.Ile327Ile synonymous AMY2B 1 82044 1.21886E-5 41022 0 3.18918E-5
1-104117957-T-G p.Trp331Gly missense AMY2B 2 82068 2.437E-5 41034 0 8.24035E-6
1-104117962-T-A p.Asp332Glu missense AMY2B 1 82084 1.21826E-5 41042 0 NA
1-104117963-G-C p.Ala333Pro missense AMY2B 1 82084 1.21826E-5 41042 0 3.98549E-6
1-104117965-TAGGTAGAAAACCAAGTTCTCTATTTTTTTTAACACATCTTTTAATGATGGTAATGATATTCTGATATTCTGTGATAATATAATTATGTAACTTTC-T p.Arg334fs frameshift AMY2B 12 82084 1.46192E-4 41042 4 NA
1-104117967-G-A p.Arg334Lys missense+splice_region AMY2B 1 82102 1.218E-5 41051 0 NA
1-104117968-G-A c.1001+1G>A splice_donor AMY2B 2 82100 2.43605E-5 41050 0 6.38366E-5
1-104117971-G-A c.1001+4G>A splice_region AMY2B 31 82104 3.7757E-4 41052 0 0.00125
1-104118059-T-C c.1002-4T>C splice_region AMY2B 1 82624 1.2103E-5 41312 0 8.24076E-6
1-104118082-G-T p.Gly341* stop_gained AMY2B 4 82808 4.83045E-5 41404 0 9.56572E-5
1-104118093-T-A p.Leu344Leu synonymous AMY2B 217 82884 0.00261812 41442 1 0.00154493
1-104118096-T-C p.Ala345Ala synonymous AMY2B 275 82914 0.00331669 41457 1 0.00780702
1-104118097-C-T p.His346Tyr missense AMY2B 1 82942 1.20566E-5 41471 0 1.19451E-5
1-104118109-T-TA p.Phe350fs frameshift AMY2B 1 82998 1.20485E-5 41499 0 NA
1-104118110-T-A p.Phe350Tyr missense AMY2B 1 82988 1.20499E-5 41494 0 NA
1-104118116-G-A p.Arg352Gln missense AMY2B 5 83012 6.02323E-5 41506 0 4.11929E-5
1-104118122-T-C p.Met354Thr missense AMY2B 1 83054 1.20404E-5 41527 0 NA
1-104118134-G-A p.Arg358His missense AMY2B 22 83102 2.64735E-4 41551 0 2.30703E-4
1-104118142-A-G p.Arg361Gly missense AMY2B 2 83098 2.4068E-5 41549 0 NA
1-104118148-T-C p.Phe363Leu missense AMY2B 1 83078 1.20369E-5 41539 0 3.19E-5
1-104118149-T-A p.Phe363Tyr missense AMY2B 11 83072 1.32415E-4 41536 0 5.05051E-4
1-104118156-T-C p.Asn365Asn synonymous AMY2B 1 83062 1.20392E-5 41531 0 NA
1-104118162-C-T p.Asn367Asn splice_region+synonymous AMY2B 4 83006 4.81893E-5 41503 0 9.57304E-5
1-104118162-C-CGATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGA c.1101+1_1101+2insATGTTAATGATTGGGTTGGGCCACCAAATAATAATGGAG splice_donor AMY2B 2 83018 2.40912E-5 41509 1 NA
1-104118163-G-T c.1101+1G>T splice_donor AMY2B 3 83000 3.61446E-5 41500 0 7.41852E-5
1-104118163-G-A c.1101+1G>A splice_donor AMY2B 1 83000 1.20482E-5 41500 0 1.07156E-4
1-104118163-G-GT c.1101+2dupT splice_region AMY2B 1 83000 1.20482E-5 41500 0 NA
1-104118166-AG-A c.1101+5delG splice_region AMY2B 12 82978 1.44617E-4 41489 0 9.97025E-5
1-104118400-A-AG n.369_370insG splice_region AMY2B 1 42622 2.34621E-5 21311 0 NA
1-104120098-A-AC c.1102-9dupC splice_region AMY2B 1 80956 1.23524E-5 40478 0 NA
1-104120103-CT-C c.1102-8delT splice_region AMY2B 5 80962 6.17574E-5 40481 0 1.59397E-5
1-104120106-A-C c.1102-6A>C splice_region AMY2B 7 80960 8.64625E-5 40480 0 2.64306E-4
1-104120107-T-A c.1102-5T>A splice_region AMY2B 3 80964 3.70535E-5 40482 0 3.18771E-5
1-104120120-T-A p.Asn370Lys missense AMY2B 3 80972 3.70498E-5 40486 0 NA
1-104120120-T-C p.Asn370Asn synonymous AMY2B 3 80972 3.70498E-5 40486 0 NA
1-104120121-G-T p.Asp371Tyr missense AMY2B 3 80972 3.70498E-5 40486 0 NA
1-104120123-T-C p.Asp371Asp synonymous AMY2B 1 80972 1.23499E-5 40486 0 NA
1-104120131-G-A p.Gly374Glu missense AMY2B 3 80972 3.70498E-5 40486 0 3.18756E-5
1-104120142-A-T p.Asn378Tyr missense AMY2B 1 80974 1.23496E-5 40487 0 1.59476E-5
1-104120144-T-C p.Asn378Asn synonymous AMY2B 4 80976 4.93974E-5 40488 0 1.99375E-5
1-104120144-T-G p.Asn378Lys missense AMY2B 1 80976 1.23493E-5 40488 0 NA
1-104120147-T-A p.Asn379Lys missense AMY2B 1 80976 1.23493E-5 40488 0 3.18471E-5
1-104120151-G-A p.Val381Ile missense AMY2B 2 80972 2.46999E-5 40486 0 7.43777E-5
1-104120156-T-G p.Ile382Met missense AMY2B 7 80974 8.64475E-5 40487 0 3.55431E-4
1-104120184-A-G p.Thr392Ala missense AMY2B 1 80954 1.23527E-5 40477 0 3.99636E-6
1-104120194-A-G p.Asn395Ser missense AMY2B 1 80942 1.23545E-5 40471 0 8.2905E-6
1-104120199-T-TTTATCTA p.Trp397fs frameshift AMY2B 1 80934 1.23557E-5 40467 0 NA
1-104120201-G-A p.Trp397* stop_gained AMY2B 4 80938 4.94205E-5 40469 0 6.15006E-4
1-104120215-G-A p.Arg402Gln missense AMY2B 2 80922 2.47152E-5 40461 0 3.59422E-5
1-104120217-TGGC-T p.Trp403_Arg404delinsCys disruptive_inframe_deletion AMY2B 1 80922 1.23576E-5 40461 0 NA
1-104120221-G-A p.Arg404His missense AMY2B 1 80916 1.23585E-5 40458 0 3.18532E-5
1-104120223-C-CTT p.Gln405fs frameshift AMY2B 1 80916 1.23585E-5 40458 0 3.99339E-6
1-104120225-A-ATAATTTTT p.Ile406fs frameshift AMY2B 1 80916 1.23585E-5 40458 0 3.99297E-6
1-104120227-T-C p.Ile406Thr missense AMY2B 1562 80778 0.0193369 40389 3 0.0334672
1-104120230-G-T p.Arg407Met missense+splice_region AMY2B 1 80910 1.23594E-5 40455 0 NA
1-104120230-G-A p.Arg407Lys missense+splice_region AMY2B 11 80908 1.35957E-4 40454 0 6.69344E-4
1-104120231-G-T c.1220+1G>T splice_donor AMY2B 1 80908 1.23597E-5 40454 0 NA
1-104120237-A-T c.1220+7A>T splice_region AMY2B 2 80908 2.47194E-5 40454 0 1.19739E-5
1-104120344-A-G p.Asn408Ser missense+splice_region AMY2B 1 79644 1.25559E-5 39822 0 4.05049E-6
1-104120358-C-T p.Arg413Cys missense AMY2B 1 79338 1.26043E-5 39669 0 6.37105E-5
1-104120359-G-A p.Arg413His missense AMY2B 4 79306 5.04375E-5 39653 0 0.00186104
1-104120359-G-T p.Arg413Leu missense AMY2B 2 79306 2.52188E-5 39653 0 NA
1-104120378-G-T p.Gln419His missense AMY2B 46 79040 5.81984E-4 39520 0 5.41401E-4
1-104120378-G-A p.Gln419Gln synonymous AMY2B 1 79062 1.26483E-5 39531 0 3.48026E-5
1-104120379-C-A p.Pro420Thr missense AMY2B 1 79062 1.26483E-5 39531 0 8.2085E-6
1-104120380-C-T p.Pro420Leu missense AMY2B 1 79064 1.2648E-5 39532 0 NA
1-104120384-T-A p.Phe421Leu missense AMY2B 1 79054 1.26496E-5 39527 0 NA
1-104120387-A-G p.Thr422Thr synonymous AMY2B 1 79036 1.26525E-5 39518 0 4.11621E-6
1-104120388-A-C p.Asn423His missense AMY2B 1 79028 1.26537E-5 39514 0 8.71809E-6
1-104120388-A-T p.Asn423Tyr missense AMY2B 1 79028 1.26537E-5 39514 0 NA
1-104120401-A-G p.Asn427Ser missense AMY2B 1 78984 1.26608E-5 39492 0 8.74141E-6
1-104120407-G-A p.Ser429Asn missense AMY2B 1 78948 1.26666E-5 39474 0 4.15244E-6
1-104120411-C-T p.Asn430Asn synonymous AMY2B 7 78944 8.86705E-5 39472 0 3.82287E-4
1-104120412-C-CCAATCATT p.Gln431fs frameshift AMY2B 1 78950 1.26662E-5 39475 0 NA
1-104120423-T-C p.Phe434Phe synonymous AMY2B 2 78940 2.53357E-5 39470 0 1.75432E-5
1-104120435-C-T p.Asn438Asn synonymous AMY2B 1 78936 1.26685E-5 39468 0 3.18674E-5
1-104120447-T-G p.Ile442Met missense AMY2B 1 78926 1.26701E-5 39463 0 3.78488E-5
1-104120453-C-T p.Phe444Phe synonymous AMY2B 2 78930 2.53389E-5 39465 0 8.80235E-6
1-104120455-A-G p.Asn445Ser missense AMY2B 19 78926 2.40732E-4 39463 0 0.0060241
1-104120456-C-T p.Asn445Asn synonymous AMY2B 5 78924 6.33521E-5 39462 0 7.04349E-5
1-104120460-G-A p.Asp447Asn missense AMY2B 2 78916 2.53434E-5 39458 0 8.80809E-6
1-104120461-A-G p.Asp447Gly missense AMY2B 1 78920 1.26711E-5 39460 0 8.81011E-6
1-104120467-G-C p.Trp449Ser missense+splice_region AMY2B 1 78918 1.26714E-5 39459 0 NA
1-104120474-A-G c.1346+7A>G splice_region AMY2B 1 78904 1.26736E-5 39452 0 1.32298E-4
1-104120475-C-A c.1346+8C>A splice_region AMY2B 4 78898 5.06984E-5 39449 0 2.73489E-4
1-104121959-G-C p.Gly458Ala missense AMY2B 1 80968 1.23506E-5 40484 0 3.98514E-6
1-104121963-TC-T p.Pro460fs frameshift AMY2B 1 80966 1.23509E-5 40483 0 NA
1-104121970-G-C p.Gly462Arg missense AMY2B 1 80976 1.23493E-5 40488 0 NA
1-104121971-G-C p.Gly462Ala missense AMY2B 2 80974 2.46993E-5 40487 0 8.24865E-6
1-104121988-A-G p.Ile468Val missense AMY2B 4 80970 4.9401E-5 40485 0 6.70241E-4
1-104122004-T-G p.Ile473Ser missense AMY2B 1 80972 1.23499E-5 40486 0 3.18431E-5
1-104122010-G-A p.Gly475Asp missense AMY2B 19 80972 2.34649E-4 40486 0 3.18573E-4
1-104122025-T-G p.Ile480Ser missense AMY2B 1 80982 1.23484E-5 40491 0 8.24185E-6
1-104122031-T-A p.Ile482Asn missense AMY2B 2 80980 2.46975E-5 40490 0 NA
1-104122035-C-T p.Tyr483Tyr synonymous AMY2B 23 80962 2.84084E-4 40481 0 0.00172117
1-104122036-G-A p.Val484Ile missense AMY2B 1 80978 1.2349E-5 40489 0 1.40114E-4
1-104122044-C-T p.Asp486Asp synonymous AMY2B 2 80968 2.47011E-5 40484 0 1.27475E-4
1-104122045-G-A p.Asp487Asn missense AMY2B 10 80978 1.2349E-4 40489 0 1.99168E-4
1-104122054-G-T p.Ala490Ser missense AMY2B 5 80968 6.17528E-5 40484 0 NA
1-104122057-C-T p.His491Tyr missense AMY2B 6 80970 7.41015E-5 40485 0 1.59276E-4
1-104122061-T-C p.Phe492Ser missense AMY2B 38 80966 4.69333E-4 40483 0 6.6896E-4
1-104122066-A-C p.Ile494Leu missense AMY2B 1 80966 1.23509E-5 40483 0 8.24375E-6
1-104122072-A-G p.Asn496Asp missense AMY2B 1 80960 1.23518E-5 40480 0 NA
1-104122078-G-A p.Ala498Thr missense AMY2B 1 80956 1.23524E-5 40478 0 NA
1-104122081-G-A p.Glu499Lys missense AMY2B 14 80958 1.72929E-4 40479 0 1.59297E-4
1-104122104-T-C p.His506His synonymous AMY2B 2 80932 2.47121E-5 40466 0 NA
1-104122105-G-A p.Ala507Thr missense AMY2B 2 80928 2.47133E-5 40464 0 4.00378E-6
1-104122112-C-A p.Ser509Tyr missense AMY2B 1 80916 1.23585E-5 40458 0 8.30868E-6
1-104122120-T-C p.Ter512Glnext*? stop_lost AMY2B 1 80858 1.23674E-5 40429 0 NA
1-104122151-A-C c.*29A>C splice_region AMY2B 1 80070 1.24891E-5 40035 0 1.68149E-5
1-104122152-C-G c.*334C>G splice_region AMY2B 1 80026 1.24959E-5 40013 0 8.40732E-6
1-104122154-A-G n.681A>G splice_region AMY2B 1 79964 1.25056E-5 39982 0 NA