Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-115215769-T-C p.Asn737Ser missense AMPD1 1 83350 1.19976E-5 41675 0 3.18431E-5
1-115215772-A-G p.Leu736Pro missense AMPD1 2 83354 2.3994E-5 41677 0 NA
1-115215794-A-C p.Tyr729Asp missense AMPD1 3 83358 3.59893E-5 41679 0 6.36862E-5
1-115215796-C-T p.Arg728His missense AMPD1 9 83360 1.07965E-4 41680 0 1.27405E-4
1-115215806-T-C p.Met725Val missense AMPD1 1 83368 1.1995E-5 41684 0 7.95374E-5
1-115215808-C-T p.Arg724His missense AMPD1 4 83360 4.79846E-5 41680 0 7.9538E-6
1-115215808-C-A p.Arg724Leu missense AMPD1 1 83360 1.19962E-5 41680 0 8.24131E-6
1-115215809-G-A p.Arg724Cys missense AMPD1 7 83360 8.39731E-5 41680 0 1.27453E-4
1-115215811-AT-A p.Ile723fs frameshift AMPD1 1 83366 1.19953E-5 41683 0 NA
1-115215823-T-A p.Asn719Ile missense AMPD1 1 83370 1.19947E-5 41685 0 NA
1-115215828-C-T p.Arg717Arg synonymous AMPD1 1 83368 1.1995E-5 41684 0 NA
1-115215832-C-T p.Arg716Gln missense AMPD1 3 83370 3.59842E-5 41685 0 3.18471E-5
1-115215833-G-A p.Arg716Trp missense AMPD1 20 83378 2.39871E-4 41689 0 5.03525E-4
1-115215834-G-A p.Ile715Ile synonymous AMPD1 1 83378 1.19936E-5 41689 0 0.0025
1-115215866-A-G p.Tyr705His missense AMPD1 15 83336 1.79994E-4 41668 0 6.25E-4
1-115215870-G-A p.Asp703Asp synonymous AMPD1 1 83324 1.20013E-5 41662 0 NA
1-115215872-C-T p.Asp703Asn missense AMPD1 2 83316 2.4005E-5 41658 0 4.94462E-5
1-115215873-G-A p.Gly702Gly synonymous AMPD1 1 83324 1.20013E-5 41662 0 9.06573E-5
1-115215877-A-T p.Leu701Gln missense AMPD1 2 83306 2.40079E-5 41653 0 4.94511E-5
1-115215896-A-G c.2086-3T>C splice_region AMPD1 8 83238 9.611E-5 41619 0 1.15456E-4
1-115216278-C-T p.Gln689Gln synonymous AMPD1 1 82924 1.20592E-5 41462 0 NA
1-115216287-A-G p.Ser686Ser synonymous AMPD1 1 83012 1.20465E-5 41506 0 1.19387E-5
1-115216298-C-T p.Ala683Thr missense AMPD1 2 83040 2.40848E-5 41520 0 NA
1-115216301-C-G p.Val682Leu missense AMPD1 1 83052 1.20406E-5 41526 0 7.95779E-6
1-115216304-C-T p.Glu681Lys missense AMPD1 3 83034 3.61298E-5 41517 0 1.98964E-5
1-115216325-G-C p.Leu674Val missense AMPD1 1 83090 1.20351E-5 41545 0 8.26296E-6
1-115216332-G-C p.Val671Val synonymous AMPD1 1 83092 1.20349E-5 41546 0 NA
1-115216334-C-T p.Val671Ile missense AMPD1 1 83084 1.2036E-5 41542 0 8.26323E-6
1-115216359-C-T p.Met662Ile missense AMPD1 24 83106 2.88788E-4 41553 0 5.95602E-4
1-115216362-TA-T p.Leu661fs frameshift AMPD1 5 83090 6.01757E-5 41545 0 9.55231E-5
1-115216366-G-T p.Pro660His missense AMPD1 3 83080 3.61098E-5 41540 0 3.18695E-5
1-115216529-C-T c.1974+1G>A splice_donor AMPD1 12 83286 1.44082E-4 41643 0 1.071E-4
1-115216529-C-A c.1974+1G>T splice_donor AMPD1 1 83286 1.20068E-5 41643 0 NA
1-115216547-G-A p.Gln653* stop_gained AMPD1 5 83296 6.00269E-5 41648 0 1.15327E-4
1-115216557-A-G p.Asp649Asp synonymous AMPD1 214 83294 0.00256921 41647 0 0.00544447
1-115216580-G-A p.Leu642Leu synonymous AMPD1 2 83300 2.40096E-5 41650 0 3.97719E-6
1-115216593-G-A p.Phe637Phe synonymous AMPD1 122 83310 0.00146441 41655 0 0.00358721
1-115216598-C-T p.Asp636Asn missense AMPD1 1 83310 1.20034E-5 41655 0 NA
1-115216632-G-T p.Ser624Arg missense AMPD1 3 83334 3.59997E-5 41667 0 3.97757E-6
1-115216633-C-CT p.Ser624fs frameshift AMPD1 1 83332 1.20002E-5 41666 0 NA
1-115216655-T-C p.Met617Val missense AMPD1 1 83346 1.19982E-5 41673 0 5.03525E-4
1-115216658-C-T p.Ala616Thr missense AMPD1 1 83346 1.19982E-5 41673 0 6.37796E-5
1-115216659-G-A p.Ile615Ile synonymous AMPD1 119 83338 0.00142792 41669 0 0.00363196
1-115216685-A-G p.Leu607Leu synonymous AMPD1 5 83326 6.00053E-5 41663 0 2.2293E-4
1-115216686-G-C p.Tyr606* stop_gained AMPD1 1 83334 1.19999E-5 41667 0 NA
1-115216689-C-T p.Gln605Gln synonymous AMPD1 1 83330 1.20005E-5 41665 0 1.59453E-5
1-115216691-G-T p.Gln605Lys missense AMPD1 3 83332 3.60006E-5 41666 0 3.98699E-6
1-115216694-G-A p.Leu604Leu synonymous AMPD1 2 83328 2.40015E-5 41664 0 3.98915E-6
1-115216695-C-T p.Val603Val synonymous AMPD1 1 83326 1.20011E-5 41663 0 6.25782E-4
1-115216697-C-T p.Val603Met missense AMPD1 2 83326 2.40021E-5 41663 0 6.38244E-5
1-115216698-G-C p.Pro602Pro synonymous AMPD1 3 83324 3.6004E-5 41662 0 2.50652E-5
1-115216698-G-A p.Pro602Pro synonymous AMPD1 2 83324 2.40027E-5 41662 0 2.91492E-4
1-115216702-C-T p.Ser601Asn missense+splice_region AMPD1 1 83314 1.20028E-5 41657 0 NA
1-115217366-A-C c.1800+7T>G splice_region AMPD1 1 83136 1.20285E-5 41568 0 NA
1-115217379-T-A p.Leu598Phe missense AMPD1 39 83164 4.68953E-4 41582 0 2.10813E-4
1-115217390-C-T p.Gly595Ser missense AMPD1 1 83212 1.20175E-5 41606 0 3.18532E-5
1-115217391-A-G p.His594His synonymous AMPD1 1 83226 1.20155E-5 41613 0 6.36902E-5
1-115217393-G-T p.His594Asn missense AMPD1 1 83246 1.20126E-5 41623 0 3.1841E-5
1-115217397-G-C p.Ile592Met missense AMPD1 1 83252 1.20117E-5 41626 0 NA
1-115217401-T-G p.Asp591Ala missense AMPD1 1 83266 1.20097E-5 41633 0 NA
1-115217402-C-T p.Asp591Asn missense AMPD1 1 83260 1.20106E-5 41630 0 NA
1-115217405-C-T p.Asp590Asn missense AMPD1 2 83258 2.40217E-5 41629 0 NA
1-115217412-C-T p.Met587Ile missense AMPD1 2 83274 2.40171E-5 41637 0 3.97709E-6
1-115217420-C-T p.Ala585Thr missense AMPD1 2 83278 2.40159E-5 41639 0 2.47158E-5
1-115217421-T-C p.Thr584Thr synonymous AMPD1 1 83282 1.20074E-5 41641 0 8.239E-5
1-115217441-C-T p.Ala578Thr missense AMPD1 4 83304 4.80169E-5 41652 0 1.59226E-4
1-115217452-C-T p.Gly574Glu missense AMPD1 44 83298 5.28224E-4 41649 0 0.00100705
1-115217457-G-A p.His572His synonymous AMPD1 1 83294 1.20057E-5 41647 0 8.24076E-6
1-115217464-C-T p.Arg570Gln missense AMPD1 1 83292 1.2006E-5 41646 0 1.19311E-5
1-115217465-G-A p.Arg570* stop_gained AMPD1 3 83290 3.60187E-5 41645 0 3.18512E-5
1-115217467-A-T p.Phe569Tyr missense AMPD1 6 83294 7.2034E-5 41647 0 8.24117E-6
1-115217468-A-G p.Phe569Leu missense AMPD1 1 83294 1.20057E-5 41647 0 3.97703E-6
1-115217476-G-A p.Thr566Met missense AMPD1 1 83286 1.20068E-5 41643 0 1.5909E-5
1-115217486-C-G p.Gly563Arg missense AMPD1 3 83284 3.60213E-5 41642 0 1.6488E-5
1-115217488-C-T p.Arg562Gln missense AMPD1 4 83272 4.80354E-5 41636 0 3.18492E-5
1-115217489-G-A p.Arg562* stop_gained AMPD1 2 83262 2.40206E-5 41631 0 5.5685E-5
1-115217492-C-T p.Glu561Lys missense+splice_region AMPD1 1 83262 1.20103E-5 41631 0 NA
1-115217496-G-C c.1680-3C>G splice_region AMPD1 1 83256 1.20111E-5 41628 0 3.18512E-5
1-115218144-T-C c.1679+7A>G splice_region AMPD1 2 82988 2.40999E-5 41494 0 NA
1-115218150-C-G c.1679+1G>C splice_donor AMPD1 1 83068 1.20383E-5 41534 0 7.95418E-6
1-115218150-C-T c.1679+1G>A splice_donor AMPD1 2 83068 2.40767E-5 41534 0 NA
1-115218169-A-G p.Val554Ala missense AMPD1 1 83202 1.20189E-5 41601 0 NA
1-115218205-G-A p.Thr542Ile missense AMPD1 2 83312 2.40061E-5 41656 0 3.97659E-6
1-115218211-G-C p.Ser540Cys missense AMPD1 1 83310 1.20034E-5 41655 0 8.23642E-6
1-115218211-G-A p.Ser540Phe missense AMPD1 1 83310 1.20034E-5 41655 0 3.97662E-6
1-115218220-T-C p.Lys537Arg missense AMPD1 1 83304 1.20042E-5 41652 0 NA
1-115218235-T-A p.Glu532Val missense AMPD1 1 83276 1.20083E-5 41638 0 5.41332E-4
1-115218240-G-A p.Pro530Pro synonymous AMPD1 3 83280 3.60231E-5 41640 0 8.23642E-6
1-115218247-G-A p.Pro528Leu missense AMPD1 1 83258 1.20109E-5 41629 0 3.97709E-6
1-115218260-A-T p.Ser524Thr missense AMPD1 70 83216 8.41184E-4 41608 0 8.07169E-4
1-115218276-G-C p.His518Gln missense AMPD1 1 83170 1.20236E-5 41585 0 NA
1-115218288-AT-A p.Asp514fs frameshift AMPD1 1 83106 1.20328E-5 41553 0 NA
1-115218294-C-A p.Val512Val synonymous AMPD1 1 83078 1.20369E-5 41539 0 3.58095E-5
1-115218296-C-T p.Val512Met missense AMPD1 3 83056 3.61202E-5 41528 0 NA
1-115218301-T-C p.Asp510Gly missense AMPD1 1 83006 1.20473E-5 41503 0 3.1841E-5
1-115218491-T-C c.1515+7A>G splice_region AMPD1 3 83252 3.60352E-5 41626 0 3.18451E-5
1-115218502-T-G p.Lys504Thr missense AMPD1 1 83234 1.20143E-5 41617 0 NA
1-115218509-A-G p.Phe502Leu missense AMPD1 5 83218 6.00832E-5 41609 0 NA
1-115218521-C-G p.Glu498Gln missense AMPD1 2 83180 2.40442E-5 41590 0 1.59131E-5
1-115218530-C-G p.Ala495Pro missense AMPD1 2 83158 2.40506E-5 41579 0 6.3674E-5
1-115218536-G-A p.Pro493Ser missense AMPD1 4 83136 4.81139E-5 41568 0 2.78503E-5
1-115218549-C-T p.Glu488Glu synonymous AMPD1 562 83110 0.00676212 41555 3 0.024375
1-115218549-C-G p.Glu488Asp missense AMPD1 4 83118 4.81244E-5 41559 0 NA
1-115218559-G-T p.Pro485Gln missense AMPD1 1 83126 1.20299E-5 41563 0 NA
1-115218575-C-G p.Glu480Gln missense AMPD1 1 83160 1.2025E-5 41580 0 NA
1-115218578-G-T p.Leu479Met missense AMPD1 1 83156 1.20256E-5 41578 0 8.27321E-6
1-115218581-T-C p.Met478Val missense AMPD1 3 83160 3.6075E-5 41580 0 1.59151E-5
1-115218610-G-A p.Ser468Phe missense AMPD1 2 83052 2.40813E-5 41526 0 NA
1-115218613-C-T p.Arg467His missense AMPD1 8 82994 9.63925E-5 41497 0 1.65937E-4
1-115218613-C-G p.Arg467Pro missense AMPD1 2 82994 2.40981E-5 41497 0 9.95619E-5
1-115218614-G-A p.Arg467Cys missense AMPD1 5 83000 6.0241E-5 41500 0 6.36902E-5
1-115218620-C-T p.Val465Met missense AMPD1 1 82960 1.2054E-5 41480 0 3.98086E-6
1-115218623-C-T p.Asp464Asn missense+splice_region AMPD1 1 82920 1.20598E-5 41460 0 NA
1-115218629-A-G c.1389-5T>C splice_region AMPD1 1 82832 1.20726E-5 41416 0 3.18451E-5
1-115218632-C-G c.1389-8G>C splice_region AMPD1 2 82758 2.41668E-5 41379 0 NA
1-115219967-C-T c.1388+5G>A splice_region AMPD1 8 83318 9.60177E-5 41659 0 1.63239E-4
1-115219977-C-T p.Arg461Arg synonymous AMPD1 3 83348 3.59937E-5 41674 0 NA
1-115219979-T-C p.Arg461Gly missense AMPD1 4 83344 4.79939E-5 41672 0 8.2371E-6
1-115219982-G-A p.Pro460Ser missense AMPD1 4 83334 4.79996E-5 41667 0 3.97659E-6
1-115219994-T-A p.Met456Leu missense AMPD1 3 83346 3.59945E-5 41673 0 1.40021E-4
1-115219995-C-T p.Trp455* stop_gained AMPD1 1 83342 1.19988E-5 41671 0 NA
1-115219999-G-A p.Thr454Ile missense AMPD1 1 83342 1.19988E-5 41671 0 3.24212E-5
1-115220020-C-T p.Arg447His missense AMPD1 1 83318 1.20022E-5 41659 0 6.25E-4
1-115220026-C-T p.Cys445Tyr missense AMPD1 1 83320 1.20019E-5 41660 0 2.47093E-5
1-115220033-A-G p.Phe443Leu missense AMPD1 1 83326 1.20011E-5 41663 0 NA
1-115220041-G-A p.Ser440Phe missense AMPD1 2 83322 2.40033E-5 41661 0 8.23642E-6
1-115220054-A-T p.Trp436Arg missense AMPD1 1 83318 1.20022E-5 41659 0 NA
1-115220056-T-C p.Glu435Gly missense AMPD1 2 83310 2.40067E-5 41655 0 3.57893E-5
1-115220060-C-A p.Asp434Tyr missense AMPD1 1 83320 1.20019E-5 41660 0 8.23669E-6
1-115220068-C-T p.Arg431His missense AMPD1 3 83292 3.60179E-5 41646 0 1.23286E-4
1-115220086-C-T p.Arg425His missense AMPD1 20 83282 2.40148E-4 41641 0 8.75002E-4
1-115220087-G-A p.Arg425Cys missense AMPD1 3 83284 3.60213E-5 41642 0 3.20492E-5
1-115220119-A-G p.Leu414Pro missense AMPD1 2 83178 2.40448E-5 41589 0 NA
1-115220123-CCG-C p.Ala412fs frameshift AMPD1 3 83128 3.60889E-5 41564 1 1.19454E-5
1-115220124-C-T p.Ala412Ala synonymous AMPD1 8 83114 9.62533E-5 41557 0 6.25E-4
1-115220125-G-A p.Ala412Val missense AMPD1 1 83088 1.20354E-5 41544 0 0.0020141
1-115220132-C-T p.Val410Ile missense AMPD1 3 83090 3.61054E-5 41545 0 7.968E-6
1-115220136-C-G c.1225-1G>C splice_acceptor AMPD1 1 83056 1.20401E-5 41528 0 1.65158E-5
1-115220523-C-T c.1224+8G>A splice_region AMPD1 998 82946 0.0120319 41473 35 0.0203557
1-115220524-G-A c.1224+7C>T splice_region AMPD1 11 82970 1.32578E-4 41485 0 0.00282015
1-115220525-C-A c.1224+6G>T splice_region AMPD1 1 83012 1.20465E-5 41506 0 3.9782E-6
1-115220534-G-C p.Ile407Met missense AMPD1 8 83120 9.62464E-5 41560 0 0.00125
1-115220535-A-G p.Ile407Thr missense AMPD1 1 83124 1.20302E-5 41562 0 3.1902E-5
1-115220538-A-G p.Ile406Thr missense AMPD1 1 83150 1.20265E-5 41575 0 1.64731E-5
1-115220543-G-A p.Ala404Ala synonymous AMPD1 1 83176 1.20227E-5 41588 0 3.18756E-5
1-115220563-T-C p.Ile398Val missense AMPD1 1 83230 1.20149E-5 41615 0 NA
1-115220581-A-G p.Leu392Leu synonymous AMPD1 5 83256 6.00557E-5 41628 0 1.27421E-4
1-115220591-C-T p.Arg388Arg synonymous AMPD1 1 83258 1.20109E-5 41629 0 8.23642E-6
1-115220592-C-T p.Arg388Gln missense AMPD1 1 83248 1.20123E-5 41624 0 1.98825E-5
1-115220593-G-A p.Arg388Trp missense AMPD1 80 83248 9.60984E-4 41624 0 0.00197503
1-115220603-T-C p.Ala384Ala synonymous AMPD1 1 83266 1.20097E-5 41633 0 NA
1-115220607-C-T p.Gly383Glu missense AMPD1 1 83272 1.20088E-5 41636 0 8.23642E-6
1-115220613-G-A p.Pro381Leu missense AMPD1 1 83264 1.201E-5 41632 0 1.19298E-5
1-115220633-C-T p.Lys374Lys synonymous AMPD1 42 83254 5.0448E-4 41627 1 0.00153889
1-115220644-G-T p.Arg371Ser missense AMPD1 16 83204 1.92298E-4 41602 0 6.37024E-5
1-115220659-G-A p.Arg366Cys missense AMPD1 2 83152 2.40523E-5 41576 0 1.2747E-4
1-115220667-A-G c.1093-5T>C splice_region AMPD1 1 83108 1.20325E-5 41554 0 2.78514E-5
1-115220950-C-T c.1092+4G>A splice_region AMPD1 2 83056 2.40801E-5 41528 0 3.97912E-6
1-115220950-C-A c.1092+4G>T splice_region AMPD1 1 83056 1.20401E-5 41528 0 NA
1-115220967-A-G p.Leu360Pro missense AMPD1 1 83130 1.20294E-5 41565 0 9.55049E-5
1-115221046-T-G p.Thr334Pro missense AMPD1 10 83282 1.20074E-4 41641 0 1.19307E-5
1-115221050-A-G p.Tyr332Tyr synonymous AMPD1 1 83284 1.20071E-5 41642 0 NA
1-115221056-C-A p.Val330Val synonymous AMPD1 1 83298 1.20051E-5 41649 0 4.77194E-5
1-115221066-G-A p.Ala327Val missense AMPD1 2 83304 2.40085E-5 41652 0 NA
1-115221067-C-T p.Ala327Thr missense AMPD1 1 83306 1.20039E-5 41653 0 NA
1-115221070-C-A p.Asp326Tyr missense AMPD1 1 83304 1.20042E-5 41652 0 NA
1-115221072-A-G p.Ile325Thr missense AMPD1 1 83308 1.20036E-5 41654 0 NA
1-115221075-T-C p.Gln324Arg missense AMPD1 30 83306 3.60118E-4 41653 0 3.21268E-4
1-115221077-G-C p.Tyr323* stop_gained AMPD1 1 83304 1.20042E-5 41652 0 NA
1-115221088-T-C p.Lys320Glu missense AMPD1 10 83302 1.20045E-4 41651 0 7.41412E-5
1-115221096-C-T p.Arg317His missense AMPD1 2 83308 2.40073E-5 41654 0 6.25E-4
1-115221097-G-A p.Arg317Cys missense AMPD1 9 83304 1.08038E-4 41652 0 1.40065E-4
1-115221100-G-A p.Leu316Leu synonymous AMPD1 4 83306 4.80158E-5 41653 0 3.977E-6
1-115221104-A-T p.His314Gln missense AMPD1 6 83310 7.20202E-5 41655 0 0.00100705
1-115221116-C-A p.Met310Ile missense AMPD1 352 83284 0.0042265 41642 0 0.00329722
1-115221124-C-A p.Ala308Ser missense AMPD1 1 83252 1.20117E-5 41626 0 NA
1-115221125-G-A p.Ala307Ala synonymous AMPD1 1 83250 1.2012E-5 41625 0 3.97836E-6
1-115221128-T-C p.Ala306Ala synonymous AMPD1 3 83248 3.60369E-5 41624 0 2.38694E-5
1-115221129-G-A p.Ala306Val missense AMPD1 1 83236 1.2014E-5 41618 0 NA
1-115221136-T-C p.Ile304Val missense AMPD1 1 83208 1.20181E-5 41604 0 5.77987E-5
1-115221140-G-A p.Thr302Thr synonymous AMPD1 2 83172 2.40466E-5 41586 0 1.19397E-5
1-115221141-G-A p.Thr302Ile missense AMPD1 1 83174 1.2023E-5 41587 0 2.48053E-5
1-115222194-G-A c.897+6C>T splice_region AMPD1 1 83172 1.20233E-5 41586 0 NA
1-115222213-T-C p.Tyr295Cys missense AMPD1 1 83258 1.20109E-5 41629 0 NA
1-115222220-C-G p.Asp293His missense AMPD1 2 83270 2.40183E-5 41635 0 8.24171E-6
1-115222223-G-A p.Arg292* stop_gained AMPD1 5 83274 6.00428E-5 41637 0 1.98847E-5
1-115222223-G-C p.Arg292Gly missense AMPD1 1 83274 1.20085E-5 41637 0 NA
1-115222233-G-A p.Asn288Asn synonymous AMPD1 2 83316 2.4005E-5 41658 0 6.25E-4
1-115222237-T-A p.Lys287Ile missense AMPD1 2084 83288 0.0250216 41644 30 0.0324917
1-115222253-C-T p.Glu282Lys missense AMPD1 2 83348 2.39958E-5 41674 0 1.98826E-5
1-115222254-G-A p.Asp281Asp synonymous AMPD1 2 83352 2.39946E-5 41676 0 2.47141E-5
1-115222256-C-A p.Asp281Tyr missense AMPD1 1 83350 1.19976E-5 41675 0 NA
1-115222296-G-C p.Leu267Leu synonymous AMPD1 2 83334 2.39998E-5 41667 0 1.07109E-4
1-115222304-T-C p.Lys265Glu missense AMPD1 1 83318 1.20022E-5 41659 0 1.19292E-5
1-115222309-C-T p.Arg263His missense AMPD1 3 83304 3.60127E-5 41652 0 1.19296E-5
1-115222310-G-A p.Arg263Cys missense AMPD1 4 83300 4.80192E-5 41650 0 6.37227E-5
1-115222312-C-T p.Arg262Gln missense AMPD1 24 83292 2.88143E-4 41646 0 9.56694E-5
1-115222313-G-A p.Arg262Trp missense AMPD1 5 83290 6.00312E-5 41645 0 8.24321E-5
1-115222317-G-C p.Thr260Thr synonymous AMPD1 2 83282 2.40148E-5 41641 0 NA
1-115222324-G-C p.Thr258Ser missense AMPD1 2 83232 2.40292E-5 41616 0 3.18674E-5
1-115222324-G-A p.Thr258Ile missense AMPD1 1 83232 1.20146E-5 41616 0 3.97716E-6
1-115222328-T-G p.Lys257Gln missense+splice_region AMPD1 1 83178 1.20224E-5 41589 0 8.24919E-6
1-115222873-CACTT-C c.767+3_767+6delAAGT splice_region AMPD1 4 83264 4.804E-5 41632 0 8.24144E-6
1-115222886-C-T p.Gly254Glu missense AMPD1 1 83300 1.20048E-5 41650 0 NA
1-115222896-T-G p.Ile251Leu missense AMPD1 3 83332 3.60006E-5 41666 0 NA
1-115222906-T-TA p.Leu247fs frameshift AMPD1 2 83360 2.39923E-5 41680 0 NA
1-115222908-A-T p.Leu247Ile missense AMPD1 1 83362 1.19959E-5 41681 0 NA
1-115222920-C-G p.Asp243His missense AMPD1 2 83370 2.39894E-5 41685 0 NA
1-115222921-G-A p.Asp242Asp synonymous AMPD1 1 83370 1.19947E-5 41685 0 0.00125
1-115222943-G-C p.Pro235Arg missense AMPD1 4 83394 4.79651E-5 41697 0 3.18532E-5
1-115222945-G-C p.Tyr234* stop_gained AMPD1 1 83398 1.19907E-5 41699 0 NA
1-115222959-T-C p.Lys230Glu missense AMPD1 39 83394 4.6766E-4 41697 0 0.00100705
1-115222962-G-T p.Pro229Thr missense AMPD1 1 83392 1.19916E-5 41696 0 NA
1-115222966-A-G p.Asp227Asp synonymous AMPD1 20 83400 2.39808E-4 41700 0 5.43613E-4
1-115222981-T-G p.Ala222Ala synonymous AMPD1 2 83392 2.39831E-5 41696 0 NA
1-115222982-G-A p.Ala222Val missense AMPD1 1 83390 1.19918E-5 41695 0 3.29462E-5
1-115222988-T-C p.Asn220Ser missense AMPD1 7 83392 8.39409E-5 41696 0 6.36943E-5
1-115222994-T-G p.Tyr218Ser missense AMPD1 2 83384 2.39854E-5 41692 0 3.18471E-5
1-115222998-C-T p.Val217Ile missense AMPD1 1 83382 1.1993E-5 41691 0 3.29462E-5
1-115222999-G-A p.Tyr216Tyr synonymous AMPD1 3 83382 3.5979E-5 41691 0 8.23655E-6
1-115223009-C-A p.Gly213Val missense AMPD1 3 83382 3.5979E-5 41691 0 4.11834E-5
1-115223010-C-T p.Gly213Ser missense AMPD1 15 83382 1.79895E-4 41691 0 6.25E-4
1-115223010-C-A p.Gly213Cys missense AMPD1 1 83382 1.1993E-5 41691 0 3.18451E-5
1-115223013-C-T p.Asp212Asn missense AMPD1 1 83384 1.19927E-5 41692 0 5.03525E-4
1-115223014-C-T p.Lys211Lys synonymous AMPD1 1 83384 1.19927E-5 41692 0 3.18471E-5
1-115223030-T-C p.Tyr206Cys missense AMPD1 2 83364 2.39912E-5 41682 0 3.18431E-5
1-115223050-G-C p.Asn199Lys missense AMPD1 1 83348 1.19979E-5 41674 0 NA
1-115223058-T-C p.Thr197Ala missense AMPD1 4 83336 4.79985E-5 41668 0 4.9421E-5
1-115223060-C-T p.Arg196Gln missense AMPD1 4 83326 4.80042E-5 41663 0 0.00125
1-115223061-G-A p.Arg196* stop_gained AMPD1 3 83334 3.59997E-5 41667 0 3.18573E-5
1-115223070-C-T p.Asp193Asn missense AMPD1 14 83326 1.68015E-4 41663 0 4.93073E-4
1-115223072-T-C p.Glu192Gly missense AMPD1 1 83326 1.20011E-5 41663 0 NA
1-115223081-T-G p.Lys189Thr missense AMPD1 1 83322 1.20016E-5 41661 0 NA
1-115223095-A-G p.Phe184Phe synonymous AMPD1 221 83290 0.00265338 41645 3 0.0058284
1-115226829-A-G p.Phe180Leu missense AMPD1 1 83380 1.19933E-5 41690 0 1.19299E-5
1-115226833-C-G p.Glu178Asp missense AMPD1 1 83384 1.19927E-5 41692 0 NA
1-115226854-A-T p.Gly171Gly synonymous AMPD1 1 83396 1.1991E-5 41698 0 6.25E-4
1-115226855-C-T p.Gly171Asp missense AMPD1 66 83394 7.91424E-4 41697 0 0.00210258
1-115226857-A-G p.Asp170Asp synonymous AMPD1 2 83400 2.39808E-5 41700 0 0.001875
1-115226863-G-A p.Asn168Asn synonymous AMPD1 3 83400 3.59712E-5 41700 0 3.29489E-5
1-115226868-G-A p.Arg167Trp missense AMPD1 1 83400 1.19904E-5 41700 0 4.11848E-5
1-115226899-C-A p.Gln156His missense AMPD1 72 83386 8.63454E-4 41693 0 5.36813E-4
1-115226905-C-T p.Ser154Ser synonymous AMPD1 2 83378 2.39871E-5 41689 0 6.25E-4
1-115226907-A-G p.Ser154Pro missense AMPD1 1 83372 1.19944E-5 41686 0 1.19292E-5
1-115226927-C-T p.Arg147His missense AMPD1 4 83344 4.79939E-5 41672 0 1.59551E-4
1-115226928-G-A p.Arg147Cys missense AMPD1 2 83344 2.39969E-5 41672 0 3.1957E-5
1-115226943-G-A p.Arg142Trp missense AMPD1 2 83298 2.40102E-5 41649 0 1.47161E-4
1-115226961-CA-C p.Ile135fs frameshift AMPD1 1 83222 1.20161E-5 41611 0 1.89935E-4
1-115226966-T-C p.Glu134Gly missense AMPD1 1 83198 1.20195E-5 41599 0 3.97966E-6
1-115226973-C-T p.Asp132Asn missense AMPD1 5 83132 6.01453E-5 41566 0 7.16892E-5
1-115226990-C-CA c.382-6_382-5insT splice_region AMPD1 171 75032 0.00227903 37516 0 0.119955
1-115226990-CA-C c.382-6delT splice_region AMPD1 464 71186 0.00651814 35593 2 0.19239
1-115226990-C-A c.382-5G>T splice_region AMPD1 1 82732 1.20872E-5 41366 0 0.00414873
1-115229359-A-T c.381+7T>A splice_region AMPD1 2 83186 2.40425E-5 41593 0 NA
1-115229365-C-G c.381+1G>C splice_donor AMPD1 45 83248 5.40554E-4 41624 0 0.00117834
1-115229366-C-T p.Gly127Gly splice_region+synonymous AMPD1 1 83268 1.20094E-5 41634 0 8.24429E-6
1-115229373-G-T p.Ala125Asp missense AMPD1 3 83312 3.60092E-5 41656 0 NA
1-115229383-C-G p.Gly122Arg missense AMPD1 1 83354 1.1997E-5 41677 0 NA
1-115229383-C-T p.Gly122Ser missense AMPD1 1 83354 1.1997E-5 41677 0 8.23981E-6
1-115229385-G-A p.Thr121Ile missense AMPD1 3 83358 3.59893E-5 41679 0 3.97763E-6
1-115229397-C-G p.Arg117Thr missense AMPD1 2 83386 2.39848E-5 41693 0 NA
1-115229410-G-T p.Pro113Thr missense AMPD1 1 83394 1.19913E-5 41697 0 NA
1-115229413-C-T p.Val112Met missense AMPD1 48 83390 5.75609E-4 41695 0 0.00127445
1-115229414-G-A p.Thr111Thr synonymous AMPD1 4 83390 4.79674E-5 41695 0 6.36943E-5
1-115229416-T-C p.Thr111Ala missense AMPD1 2 83390 2.39837E-5 41695 0 NA
1-115229424-G-A p.Thr108Ile missense AMPD1 1 83390 1.19918E-5 41695 0 2.54506E-4
1-115229438-A-T p.Ile103Ile synonymous AMPD1 5 83390 5.99592E-5 41695 0 0.00100705
1-115229440-T-A p.Ile103Phe missense AMPD1 1 83390 1.19918E-5 41695 0 1.59061E-5
1-115229443-A-G p.Tyr102His missense AMPD1 1 83390 1.19918E-5 41695 0 NA
1-115229448-T-G p.Asp100Ala missense AMPD1 1 83394 1.19913E-5 41697 0 NA
1-115229451-A-G p.Ile99Thr missense AMPD1 2 83396 2.3982E-5 41698 0 6.36943E-5
1-115229452-T-C p.Ile99Val missense AMPD1 1 83398 1.19907E-5 41699 0 NA
1-115229480-A-G p.Ser89Ser synonymous AMPD1 1 83358 1.19964E-5 41679 0 3.97659E-6
1-115229491-T-C p.Ile86Val missense AMPD1 1 83356 1.19967E-5 41678 0 NA
1-115229500-T-C p.Asn83Asp missense AMPD1 1 83342 1.19988E-5 41671 0 8.23723E-6
1-115229504-A-C p.Thr81Thr synonymous AMPD1 239 83330 0.00286811 41665 4 0.0064964
1-115229511-C-T p.Arg79Gln missense AMPD1 9 83330 1.08004E-4 41665 0 7.41436E-5
1-115229512-G-A p.Arg79Trp missense AMPD1 59 83328 7.08045E-4 41664 0 0.00133766
1-115229514-C-T p.Gly78Glu missense AMPD1 2 83328 2.40015E-5 41664 0 1.91095E-4
1-115229523-C-T p.Arg75His missense AMPD1 541 83298 0.00649475 41649 6 0.02625
1-115229523-C-A p.Arg75Leu missense AMPD1 1 83314 1.20028E-5 41657 0 3.18431E-5
1-115229524-G-A p.Arg75Cys missense AMPD1 2 83308 2.40073E-5 41654 0 7.41632E-5
1-115229536-G-T c.216-5C>A splice_region AMPD1 2 83270 2.40183E-5 41635 0 8.24851E-6
1-115229536-G-A c.216-5C>T splice_region AMPD1 1 83270 1.20091E-5 41635 0 8.24851E-6
1-115229539-C-T c.216-8G>A splice_region AMPD1 2 83254 2.40229E-5 41627 0 3.19061E-5
1-115231174-C-T c.215+8G>A splice_region AMPD1 3 82908 3.61847E-5 41454 0 1.98929E-5
1-115231182-C-G p.Arg72Thr missense+splice_region AMPD1 1 83024 1.20447E-5 41512 0 NA
1-115231193-T-A p.Thr68Thr synonymous AMPD1 1 83096 1.20343E-5 41548 0 3.97804E-6
1-115231194-G-A p.Thr68Ile missense AMPD1 1 83098 1.2034E-5 41549 0 7.95564E-6
1-115231197-G-A p.Ser67Phe missense AMPD1 4 83106 4.81313E-5 41553 0 1.27429E-4
1-115231199-G-A p.Thr66Thr synonymous AMPD1 1 83110 1.20322E-5 41555 0 3.97795E-6
1-115231202-G-A p.Ser65Ser synonymous AMPD1 59 83148 7.09578E-4 41574 0 5.27565E-4
1-115231204-A-T p.Ser65Thr missense AMPD1 1 83148 1.20267E-5 41574 0 3.29707E-5
1-115231208-A-C p.Thr63Thr synonymous AMPD1 3 83176 3.60681E-5 41588 0 3.18208E-5
1-115231223-T-A p.Ile58Ile synonymous AMPD1 5 83212 6.00875E-5 41606 0 3.1841E-5
1-115231248-G-A p.Ser50Phe missense AMPD1 1 83270 1.20091E-5 41635 0 3.97741E-6
1-115231249-A-ATGTCCG p.Ile49_Ser50insArgThr conservative_inframe_insertion AMPD1 1 83272 1.20088E-5 41636 0 8.23818E-6
1-115231251-ATC-TTT p.ProIle48ProAsn missense AMPD1 1 83276 1.20083E-5 41638 0 NA
1-115231253-C-T p.Pro48Pro synonymous AMPD1 1 83282 1.20074E-5 41641 0 4.11916E-5
1-115231254-G-A p.Pro48Leu missense AMPD1 8374 83188 0.100664 41594 500 0.0971904
1-115231264-C-T p.Glu45Lys missense AMPD1 1 83290 1.20062E-5 41645 0 NA
1-115231266-T-C p.Asp44Gly missense AMPD1 1 83300 1.20048E-5 41650 0 3.97674E-6
1-115231267-C-T p.Asp44Asn missense AMPD1 1 83302 1.20045E-5 41651 0 NA
1-115231270-C-T p.Val43Met missense AMPD1 1 83314 1.20028E-5 41657 0 3.97681E-6
1-115231271-A-G p.Asp42Asp synonymous AMPD1 1 83310 1.20034E-5 41655 0 3.97681E-6
1-115231273-C-T p.Asp42Asn missense AMPD1 1 83310 1.20034E-5 41655 0 8.2371E-6
1-115231276-AG-A p.Phe41fs frameshift AMPD1 1 83318 1.20022E-5 41659 0 NA
1-115231281-G-T p.Ser39Tyr missense AMPD1 3 83324 3.6004E-5 41662 0 6.58957E-5
1-115231281-GA-G p.Ser39fs frameshift AMPD1 1 83324 1.20013E-5 41662 0 NA
1-115231287-T-G p.Glu37Ala missense AMPD1 2 83328 2.40015E-5 41664 0 8.23696E-6
1-115231291-G-A p.Gln36* stop_gained AMPD1 1 83326 1.20011E-5 41663 0 8.23696E-6
1-115231293-C-T p.Arg35His missense AMPD1 10 83326 1.20011E-4 41663 0 4.11855E-5
1-115231293-C-A p.Arg35Leu missense AMPD1 3 83326 3.60032E-5 41663 0 6.36983E-5
1-115231294-G-A p.Arg35Cys missense AMPD1 2 83338 2.39987E-5 41669 0 5.56726E-5
1-115231298-T-C p.Gly33Gly synonymous AMPD1 237 83342 0.0028437 41671 1 0.00366242
1-115231305-T-C p.Asp31Gly missense AMPD1 3 83348 3.59937E-5 41674 0 3.97659E-6
1-115231310-G-A p.Val29Val synonymous AMPD1 1 83346 1.19982E-5 41673 0 7.9533E-6
1-115231315-C-G p.Glu28Gln missense AMPD1 1 83346 1.19982E-5 41673 0 NA
1-115231326-AC-A p.Val24fs frameshift AMPD1 1 83362 1.19959E-5 41681 0 NA
1-115231327-C-G p.Val24Leu missense AMPD1 1 83368 1.1995E-5 41684 0 NA
1-115231327-C-A p.Val24Leu missense AMPD1 2 83368 2.399E-5 41684 0 NA
1-115231344-C-T p.Arg18His missense AMPD1 2 83364 2.39912E-5 41682 0 3.18492E-5
1-115231345-G-A p.Arg18Cys missense AMPD1 1 83366 1.19953E-5 41683 0 4.37421E-5
1-115231357-C-T p.Asp14Asn missense AMPD1 6 83364 7.19735E-5 41682 0 0.0020141
1-115231365-AAAAG-A c.35-7_35-4delCTTT splice_region AMPD1 22 83352 2.63941E-4 41676 0 0.00108246
1-115231365-A-G c.35-3T>C splice_region AMPD1 1 83352 1.19973E-5 41676 0 NA
1-115236056-C-T c.34+1G>A splice_donor AMPD1 5 82956 6.02729E-5 41478 0 4.12487E-5
1-115236057-G-A p.Gln12* stop_gained AMPD1 8022 82542 0.0971869 41271 478 0.0962204
1-115238065-A-C c.22+6T>G splice_region AMPD1 1 83052 1.20406E-5 41526 0 NA
1-115238081-G-A p.Phe4Phe synonymous AMPD1 1 83192 1.20204E-5 41596 0 NA
1-115238086-G-A p.Leu3Leu synonymous AMPD1 1 83228 1.20152E-5 41614 0 NA
1-115238087-AG-A p.Pro2fs frameshift AMPD1 15 83216 1.80254E-4 41608 0 0.00145787
1-115238092-T-C p.Met1? start_lost AMPD1 1 83248 1.20123E-5 41624 0 3.22269E-5
1-115238093-T-C p.Thr33Thr synonymous AMPD1 2 83258 2.40217E-5 41629 0 NA
1-115238107-T-C p.Arg29Gly missense AMPD1 1 83312 1.20031E-5 41656 0 8.23655E-6
1-115238123-A-G p.Cys23Cys synonymous AMPD1 2 83326 2.40021E-5 41663 0 3.97674E-6
1-115238125-A-G p.Cys23Arg missense AMPD1 1 83324 1.20013E-5 41662 0 3.57907E-5
1-115238128-A-G p.Tyr22His missense AMPD1 2 83320 2.40038E-5 41660 0 NA
1-115238134-G-A p.Leu20Phe missense AMPD1 1 83308 1.20036E-5 41654 0 2.47117E-5
1-115238139-G-C p.Ser18Cys missense AMPD1 1 83298 1.20051E-5 41649 0 NA
1-115238151-T-TG p.His14fs frameshift AMPD1 3 83302 3.60135E-5 41651 0 6.37592E-5
1-115238151-T-G p.His14Pro missense AMPD1 1 83302 1.20045E-5 41651 0 NA
1-115238164-T-C p.Ser10Gly missense AMPD1 1 83290 1.20062E-5 41645 0 3.18634E-5
1-115238165-G-C p.Val9Val synonymous AMPD1 1 83284 1.20071E-5 41642 0 NA
1-115238168-A-G p.Ser8Ser synonymous AMPD1 4 83274 4.80342E-5 41637 0 6.37064E-5
1-115238179-T-C p.Ile5Val missense AMPD1 1 83266 1.20097E-5 41633 0 NA
1-115238183-G-A p.Val3Val synonymous AMPD1 1 83260 1.20106E-5 41630 0 NA
1-115238187-T-C p.Asn2Ser missense AMPD1 1 83248 1.20123E-5 41624 0 NA
1-115238214-G-A c.-122C>T 5_prime_UTR_premature_start_codon_gain AMPD1 2 83104 2.40662E-5 41552 0 4.53059E-5