Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-120436604-T-A p.Lys786* stop_gained ADAM30 1 83354 1.1997E-5 41677 0 NA
1-120436607-C-T p.Val785Ile missense ADAM30 1 83356 1.19967E-5 41678 0 NA
1-120436611-C-G p.Lys783Asn missense ADAM30 1 83366 1.19953E-5 41683 0 4.02528E-6
1-120436622-G-A p.Pro780Ser missense ADAM30 1 83378 1.19936E-5 41689 0 3.18532E-5
1-120436624-C-T p.Arg779Gln missense ADAM30 1 83376 1.19939E-5 41688 0 6.59544E-5
1-120436624-C-G p.Arg779Pro missense ADAM30 3 83376 3.59816E-5 41688 0 NA
1-120436638-GTTTGCTTTAGATTCTTCCTGTCCAGTT-G p.Lys765_Ala773del disruptive_inframe_deletion ADAM30 10 83382 1.1993E-4 41691 0 2.47158E-4
1-120436644-T-G p.Lys772Asn missense ADAM30 1 83388 1.19921E-5 41694 0 NA
1-120436648-G-A p.Ser771Phe missense ADAM30 2 83386 2.39848E-5 41693 0 8.23968E-6
1-120436655-C-T p.Glu769Lys missense ADAM30 1 83386 1.19924E-5 41693 0 8.239E-6
1-120436657-T-C p.Gln768Arg missense ADAM30 1 83384 1.19927E-5 41692 0 3.97966E-6
1-120436664-T-C p.Thr766Ala missense ADAM30 1 83384 1.19927E-5 41692 0 3.97836E-6
1-120436673-T-C p.Lys763Glu missense ADAM30 3 83380 3.59799E-5 41690 0 6.59315E-5
1-120436680-T-C p.Glu760Glu synonymous ADAM30 1 83384 1.19927E-5 41692 0 6.36862E-5
1-120436684-T-C p.Gln759Arg missense ADAM30 1 83386 1.19924E-5 41693 0 NA
1-120436686-T-C p.Gly758Gly synonymous ADAM30 2 83384 2.39854E-5 41692 0 3.29533E-5
1-120436704-T-G p.Glu752Asp missense ADAM30 2 83384 2.39854E-5 41692 0 NA
1-120436711-T-C p.Gln750Arg missense ADAM30 5 83392 5.99578E-5 41696 0 9.88582E-5
1-120436714-CCAGTTTTTGTTTTAGATTCTTCCTGTA-C p.Val740_Thr748del disruptive_inframe_deletion ADAM30 1 83386 1.19924E-5 41693 0 1.64769E-5
1-120436729-G-A p.Ser744Phe missense ADAM30 1 83394 1.19913E-5 41697 0 3.9782E-6
1-120436738-T-C p.Gln741Arg missense ADAM30 1 83394 1.19913E-5 41697 0 NA
1-120436741-A-C p.Val740Gly missense ADAM30 6 83386 7.19545E-5 41693 0 5.03525E-4
1-120436743-A-G p.Thr739Thr synonymous ADAM30 1 83388 1.19921E-5 41694 0 3.98772E-6
1-120436744-G-A p.Thr739Ile missense ADAM30 1 83388 1.19921E-5 41694 0 3.18573E-5
1-120436748-T-C p.Lys738Glu missense ADAM30 1 83388 1.19921E-5 41694 0 NA
1-120436751-T-C p.Thr737Ala missense ADAM30 7464 83226 0.0896835 41613 543 0.117345
1-120436782-G-C p.Ser726Ser synonymous ADAM30 1 83414 1.19884E-5 41707 0 4.38894E-5
1-120436787-G-A p.Leu725Leu synonymous ADAM30 2 83418 2.39756E-5 41709 0 4.38862E-5
1-120436790-G-A p.Pro724Ser missense ADAM30 1 83422 1.19872E-5 41711 0 NA
1-120436802-G-A p.Gln720* stop_gained ADAM30 1 83422 1.19872E-5 41711 0 NA
1-120436806-G-A p.Pro718Pro synonymous ADAM30 1 83420 1.19875E-5 41710 0 6.39713E-5
1-120436812-T-C p.Leu716Leu synonymous ADAM30 1 83418 1.19878E-5 41709 0 NA
1-120436816-T-C p.His715Arg missense ADAM30 2 83418 2.39756E-5 41709 0 NA
1-120436819-T-C p.Asn714Ser missense ADAM30 1 83414 1.19884E-5 41707 0 NA
1-120436828-A-C p.Val711Gly missense ADAM30 1 83414 1.19884E-5 41707 0 3.98619E-6
1-120436832-G-A p.Gln710* stop_gained ADAM30 1 83412 1.19887E-5 41706 0 NA
1-120436834-C-T p.Arg709Gln missense ADAM30 1 83408 1.19893E-5 41704 0 8.24946E-6
1-120436838-A-G p.Phe708Leu missense ADAM30 1 83412 1.19887E-5 41706 0 NA
1-120436850-C-T p.Val704Ile missense ADAM30 1 83402 1.19901E-5 41701 0 NA
1-120436872-A-G p.Leu696Leu synonymous ADAM30 1 83392 1.19916E-5 41696 0 NA
1-120436875-G-A p.Arg695Arg synonymous ADAM30 11 83380 1.31926E-4 41690 0 6.36983E-5
1-120436876-C-T p.Arg695His missense ADAM30 3 83378 3.59807E-5 41689 0 3.9795E-6
1-120436877-G-A p.Arg695Cys missense ADAM30 3 83380 3.59799E-5 41690 0 8.25082E-6
1-120436882-A-G p.Met693Thr missense ADAM30 1 83374 1.19941E-5 41687 0 NA
1-120436886-T-C p.Ile692Val missense ADAM30 1 83370 1.19947E-5 41685 0 1.59132E-5
1-120436890-G-T p.Ser690Ser synonymous ADAM30 2 83370 2.39894E-5 41685 0 NA
1-120436906-G-A p.Ser685Leu missense ADAM30 1 83354 1.1997E-5 41677 0 NA
1-120436908-C-T p.Ser684Ser synonymous ADAM30 2 83352 2.39946E-5 41676 0 3.57972E-5
1-120436909-G-A p.Ser684Leu missense ADAM30 13 83354 1.55961E-4 41677 0 5.03525E-4
1-120436911-G-A p.Pro683Pro synonymous ADAM30 5 83350 5.9988E-5 41675 0 1.64883E-5
1-120436917-C-T p.Ala681Ala synonymous ADAM30 10 83350 1.19976E-4 41675 0 9.14789E-5
1-120436918-G-A p.Ala681Val missense ADAM30 219 83340 0.00262779 41670 1 0.0130916
1-120436940-G-A p.Pro674Ser missense ADAM30 1 83360 1.19962E-5 41680 0 3.18552E-5
1-120436950-A-G p.Ile670Ile synonymous ADAM30 4 83368 4.798E-5 41684 0 NA
1-120436963-T-C p.Tyr666Cys missense ADAM30 1 83360 1.19962E-5 41680 0 NA
1-120436965-C-T p.Gly665Gly synonymous ADAM30 2 83362 2.39917E-5 41681 0 1.64791E-5
1-120436965-C-A p.Gly665Gly synonymous ADAM30 1 83362 1.19959E-5 41681 0 NA
1-120436983-T-A p.Pro659Pro synonymous ADAM30 3 83364 3.59868E-5 41682 0 3.18593E-5
1-120436999-T-C p.Tyr654Cys missense ADAM30 3 83356 3.59902E-5 41678 0 5.03525E-4
1-120437010-G-A p.Cys650Cys synonymous ADAM30 4 83344 4.79939E-5 41672 0 8.23791E-6
1-120437013-GT-G p.Asn649fs frameshift ADAM30 1 83350 1.19976E-5 41675 0 NA
1-120437013-G-GT p.Asn649fs frameshift ADAM30 1 83350 1.19976E-5 41675 0 2.78372E-5
1-120437035-C-T p.Gly642Asp missense ADAM30 1 83338 1.19993E-5 41669 0 NA
1-120437038-C-T p.Arg641Gln missense ADAM30 11 83330 1.32005E-4 41665 0 5.76673E-5
1-120437039-G-A p.Arg641Trp missense ADAM30 3 83334 3.59997E-5 41667 0 3.1841E-5
1-120437043-A-G p.Asn639Asn synonymous ADAM30 2 83332 2.40004E-5 41666 0 3.97649E-6
1-120437070-C-G p.Gln630His missense ADAM30 1 83298 1.20051E-5 41649 0 1.19302E-5
1-120437071-T-C p.Gln630Arg missense ADAM30 1 83300 1.20048E-5 41650 0 NA
1-120437073-C-T p.Leu629Leu synonymous ADAM30 1 83288 1.20065E-5 41644 0 NA
1-120437082-G-A p.Ser626Ser synonymous ADAM30 1 83264 1.201E-5 41632 0 3.97722E-6
1-120437086-T-C p.Asn625Ser missense ADAM30 1 83258 1.20109E-5 41629 0 8.24158E-6
1-120437088-G-C p.Val624Val synonymous ADAM30 2 83260 2.40211E-5 41630 0 1.6484E-5
1-120437090-C-T p.Val624Ile missense ADAM30 3 83254 3.60343E-5 41627 0 2.47247E-5
1-120437090-C-A p.Val624Phe missense ADAM30 1 83254 1.20114E-5 41627 0 NA
1-120437091-G-A p.Cys623Cys synonymous ADAM30 9 83228 1.08137E-4 41614 0 2.54593E-4
1-120437094-A-T p.Asn622Lys missense ADAM30 1 83230 1.20149E-5 41615 0 7.96172E-6
1-120437094-AT-A p.Asn622fs frameshift ADAM30 6 83230 7.20894E-5 41615 0 6.37877E-5
1-120437094-A-AT p.Asn622fs frameshift ADAM30 4 83230 4.80596E-5 41615 0 2.47329E-5
1-120437097-T-C p.Lys621Lys synonymous ADAM30 1 83222 1.20161E-5 41611 0 3.18451E-5
1-120437102-T-A p.Lys620* stop_gained ADAM30 1 83218 1.20166E-5 41609 0 3.18451E-5
1-120437109-TACCC-T p.Arg616fs frameshift ADAM30 1 83202 1.20189E-5 41601 0 NA
1-120437113-C-CGT p.Arg616fs frameshift ADAM30 1 83202 1.20189E-5 41601 0 NA
1-120437113-C-T p.Arg616Gln missense ADAM30 2 83202 2.40379E-5 41601 0 1.59215E-4
1-120437114-G-A p.Arg616Trp missense ADAM30 2 83206 2.40367E-5 41603 0 2.38768E-5
1-120437127-G-A p.Ser611Ser synonymous ADAM30 1 83220 1.20163E-5 41610 0 NA
1-120437133-G-A p.Gly609Gly synonymous ADAM30 3 83204 3.6056E-5 41602 0 NA
1-120437134-C-G p.Gly609Ala missense ADAM30 1 83202 1.20189E-5 41601 0 1.64875E-5
1-120437140-T-C p.Asn607Ser missense ADAM30 3 83224 3.60473E-5 41612 0 1.98989E-5
1-120437143-A-G p.Ile606Thr missense ADAM30 1 83212 1.20175E-5 41606 0 NA
1-120437150-C-T p.Gly604Ser missense ADAM30 2 83212 2.4035E-5 41606 0 9.55353E-5
1-120437151-T-A p.Leu603Leu synonymous ADAM30 1 83212 1.20175E-5 41606 0 NA
1-120437164-C-T p.Gly599Glu missense ADAM30 1 83204 1.20187E-5 41602 0 3.29766E-5
1-120437168-T-G p.Met598Leu missense ADAM30 2 83208 2.40361E-5 41604 0 3.2975E-5
1-120437177-T-C p.Met595Val missense ADAM30 1 83206 1.20184E-5 41603 0 NA
1-120437181-T-C p.Leu593Leu synonymous ADAM30 1 83204 1.20187E-5 41602 0 8.24294E-6
1-120437184-A-G p.His592His synonymous ADAM30 1 83198 1.20195E-5 41599 0 NA
1-120437192-C-T p.Gly590Ser missense ADAM30 2 83180 2.40442E-5 41590 0 NA
1-120437197-C-A p.Gly588Val missense ADAM30 1 83174 1.2023E-5 41587 0 NA
1-120437206-A-G p.Met585Thr missense ADAM30 5 83178 6.0112E-5 41589 0 3.18431E-5
1-120437207-T-A p.Met585Leu missense ADAM30 5 83174 6.01149E-5 41587 0 2.14334E-4
1-120437210-G-A p.Leu584Phe missense ADAM30 1 83160 1.2025E-5 41580 0 3.97899E-6
1-120437240-T-C p.Ile574Val missense ADAM30 1 82990 1.20496E-5 41495 0 3.1837E-5
1-120437244-C-T p.Thr572Thr synonymous ADAM30 6 82960 7.2324E-5 41480 0 1.59226E-4
1-120437245-G-A p.Thr572Met missense ADAM30 2 82960 2.4108E-5 41480 0 3.1839E-5
1-120437263-G-A p.Pro566Leu missense ADAM30 1 82886 1.20648E-5 41443 0 NA
1-120437265-G-A p.Ile565Ile synonymous ADAM30 3 82876 3.61987E-5 41438 0 1.5928E-5
1-120437282-T-C p.Ile560Val missense ADAM30 1 82842 1.20712E-5 41421 0 3.18431E-5
1-120437287-T-C p.Gln558Arg missense ADAM30 1 82820 1.20744E-5 41410 0 8.25546E-6
1-120437287-T-G p.Gln558Pro missense ADAM30 1 82820 1.20744E-5 41410 0 3.98305E-6
1-120437305-G-A p.Ser552Leu missense ADAM30 2 82874 2.4133E-5 41437 0 3.18492E-5
1-120437317-T-C p.Glu548Gly missense ADAM30 1 82902 1.20624E-5 41451 0 NA
1-120437327-T-A p.Lys545* stop_gained ADAM30 1 82948 1.20557E-5 41474 0 NA
1-120437335-C-T p.Arg542Gln missense ADAM30 2 82996 2.40975E-5 41498 0 3.18573E-5
1-120437336-G-A p.Arg542* stop_gained ADAM30 3 83000 3.61446E-5 41500 0 1.59474E-5
1-120437336-G-T p.Arg542Arg synonymous ADAM30 1 83000 1.20482E-5 41500 0 NA
1-120437345-T-C p.Thr539Ala missense ADAM30 1 83068 1.20383E-5 41534 0 NA
1-120437351-C-A p.Glu537* stop_gained ADAM30 1 83070 1.2038E-5 41535 0 6.3674E-5
1-120437366-G-A p.Gln532* stop_gained ADAM30 5 83098 6.01699E-5 41549 0 3.9814E-6
1-120437376-T-C p.Leu528Leu synonymous ADAM30 1 83106 1.20328E-5 41553 0 NA
1-120437386-G-T p.Ala525Glu missense ADAM30 1 83096 1.20343E-5 41548 0 3.97943E-6
1-120437392-T-C p.Tyr523Cys missense ADAM30 13 83112 1.56415E-4 41556 0 0.00102293
1-120437396-A-C p.Cys522Gly missense ADAM30 3 83098 3.6102E-5 41549 0 NA
1-120437405-G-A p.Pro519Ser missense ADAM30 1 83104 1.20331E-5 41552 0 2.47459E-5
1-120437406-A-G p.Ala518Ala synonymous ADAM30 1 83096 1.20343E-5 41548 0 NA
1-120437439-G-A p.Cys507Cys synonymous ADAM30 1 82982 1.20508E-5 41491 0 6.25E-4
1-120437440-C-G p.Cys507Ser missense ADAM30 1 82980 1.20511E-5 41490 0 1.65014E-5
1-120437458-C-G p.Arg501Thr missense ADAM30 2 82928 2.41173E-5 41464 0 NA
1-120437460-G-C p.Cys500Trp missense ADAM30 1 82920 1.20598E-5 41460 0 1.65057E-5
1-120437470-C-T p.Arg497Lys missense ADAM30 1 82994 1.20491E-5 41497 0 NA
1-120437471-T-C p.Arg497Gly missense ADAM30 9 82974 1.08468E-4 41487 0 1.27372E-4
1-120437472-G-T p.Phe496Leu missense ADAM30 1 82974 1.2052E-5 41487 0 NA
1-120437479-C-T p.Arg494His missense ADAM30 3 82988 3.61498E-5 41494 0 1.99129E-5
1-120437479-C-A p.Arg494Leu missense ADAM30 1 82988 1.20499E-5 41494 0 1.65057E-5
1-120437480-G-A p.Arg494Cys missense ADAM30 16 82974 1.92831E-4 41487 0 9.5584E-5
1-120437491-T-G p.Lys490Thr missense ADAM30 1 83042 1.20421E-5 41521 0 NA
1-120437499-G-T p.Thr487Thr synonymous ADAM30 2 83046 2.4083E-5 41523 0 NA
1-120437505-A-G p.Asp485Asp synonymous ADAM30 1 83090 1.20351E-5 41545 0 2.47533E-5
1-120437515-T-C p.Tyr482Cys missense ADAM30 1 83096 1.20343E-5 41548 0 NA
1-120437519-C-T p.Val481Ile missense ADAM30 1 83102 1.20334E-5 41551 0 1.64989E-5
1-120437529-G-T p.Cys477* stop_gained ADAM30 1 83132 1.20291E-5 41566 0 7.95735E-6
1-120437539-GA-AT p.Ser474Ile missense ADAM30 1 83176 1.20227E-5 41588 0 NA
1-120437547-G-A p.Asp471Asp synonymous ADAM30 3 83144 3.6082E-5 41572 0 5.03525E-4
1-120437587-C-T p.Arg458Lys missense ADAM30 2 83136 2.4057E-5 41568 0 8.24906E-6
1-120437594-C-T p.Val456Met missense ADAM30 1 83108 1.20325E-5 41554 0 1.2738E-4
1-120437595-G-A p.Tyr455Tyr synonymous ADAM30 1 83114 1.20317E-5 41557 0 3.18492E-5
1-120437595-G-C p.Tyr455* stop_gained ADAM30 1 83114 1.20317E-5 41557 0 NA
1-120437603-A-G p.Ser453Pro missense ADAM30 5 83066 6.01931E-5 41533 0 1.91095E-4
1-120437604-T-C p.Pro452Pro synonymous ADAM30 11 83064 1.32428E-4 41532 0 1.27348E-4
1-120437608-C-T p.Arg451His missense ADAM30 4 83018 4.81823E-5 41509 0 1.59227E-5
1-120437609-G-A p.Arg451Cys missense ADAM30 1 83006 1.20473E-5 41503 0 NA
1-120437615-G-A p.Arg449Trp missense ADAM30 2 82956 2.41092E-5 41478 0 3.18471E-5
1-120437623-T-C p.His446Arg missense ADAM30 1 82922 1.20595E-5 41461 0 6.36821E-5
1-120437637-A-G p.Ile441Ile synonymous ADAM30 2 82834 2.41447E-5 41417 0 1.65076E-5
1-120437638-A-G p.Ile441Thr missense ADAM30 1 82834 1.20723E-5 41417 0 4.12698E-5
1-120437639-T-C p.Ile441Val missense ADAM30 1 82840 1.20715E-5 41420 0 1.65079E-5
1-120437646-G-T p.Asn438Lys missense ADAM30 3 82806 3.62293E-5 41403 0 NA
1-120437649-G-A p.Ala437Ala synonymous ADAM30 1 82808 1.20761E-5 41404 0 6.25E-4
1-120437676-T-A p.Gln428His missense ADAM30 1 82900 1.20627E-5 41450 0 NA
1-120437678-G-A p.Gln428* stop_gained ADAM30 6 82920 7.23589E-5 41460 0 1.27397E-4
1-120437679-G-A p.Cys427Cys synonymous ADAM30 2 82916 2.41208E-5 41458 0 NA
1-120437686-C-T p.Arg425Gln missense ADAM30 3 82970 3.61576E-5 41485 0 6.36983E-5
1-120437687-G-A p.Arg425Trp missense ADAM30 2 83000 2.40964E-5 41500 0 8.25314E-6
1-120437688-A-T p.Asp424Glu missense ADAM30 38 83010 4.57776E-4 41505 0 3.42338E-4
1-120437690-C-T p.Asp424Asn missense ADAM30 1 83038 1.20427E-5 41519 0 NA
1-120437697-AC-A p.Cys421fs frameshift ADAM30 1 83034 1.20433E-5 41517 0 NA
1-120437718-G-A p.Asp414Asp synonymous ADAM30 15981 82980 0.192589 41490 2393 0.270397
1-120437727-C-T p.Glu411Glu synonymous ADAM30 9 83124 1.08272E-4 41562 0 6.25E-4
1-120437731-T-C p.Asn410Ser missense ADAM30 1 83120 1.20308E-5 41560 0 1.19355E-5
1-120437734-T-C p.Asp409Gly missense ADAM30 1 83132 1.20291E-5 41566 0 5.03525E-4
1-120437757-T-C p.Arg401Arg synonymous ADAM30 1 83146 1.2027E-5 41573 0 1.59095E-5
1-120437783-G-A p.Pro393Ser missense ADAM30 1 83154 1.20259E-5 41577 0 NA
1-120437800-G-A p.Thr387Ile missense ADAM30 1 83202 1.20189E-5 41601 0 NA
1-120437808-C-A p.Ser384Ser synonymous ADAM30 4 83228 4.80607E-5 41614 0 1.98856E-5
1-120437808-C-T p.Ser384Ser synonymous ADAM30 10 83228 1.20152E-4 41614 0 5.03525E-4
1-120437809-G-A p.Ser384Leu missense ADAM30 114 83230 0.0013697 41615 1 0.005
1-120437809-G-C p.Ser384Trp missense ADAM30 1 83230 1.20149E-5 41615 0 NA
1-120437817-A-G p.His381His synonymous ADAM30 1 83250 1.2012E-5 41625 0 NA
1-120437822-TA-T p.Phe379fs frameshift ADAM30 1 83256 1.20111E-5 41628 0 3.9769E-6
1-120437823-A-T p.Phe379Leu missense ADAM30 3 83260 3.60317E-5 41630 0 6.59055E-5
1-120437832-GAT-G p.Ile376fs frameshift ADAM30 1 83270 1.20091E-5 41635 0 4.11896E-5
1-120437832-G-T p.Ile376Ile synonymous ADAM30 1 83270 1.20091E-5 41635 0 6.25E-4
1-120437835-A-G p.Tyr375Tyr synonymous ADAM30 7 83266 8.40679E-5 41633 0 1.97726E-4
1-120437846-TG-T p.Ser371fs frameshift ADAM30 1 83282 1.20074E-5 41641 0 3.97725E-6
1-120437848-C-T p.Ser371Asn missense ADAM30 3 83274 3.60256E-5 41637 0 6.36943E-5
1-120437850-A-G p.Phe370Phe synonymous ADAM30 1 83280 1.20077E-5 41640 0 NA
1-120437857-G-T p.Thr368Asn missense ADAM30 13 83292 1.56077E-4 41646 0 2.54712E-4
1-120437860-C-T p.Arg367His missense ADAM30 5 83288 6.00327E-5 41644 0 3.18228E-5
1-120437861-G-T p.Arg367Ser missense ADAM30 1 83292 1.2006E-5 41646 0 NA
1-120437861-G-A p.Arg367Cys missense ADAM30 4 83292 4.80238E-5 41646 0 1.98866E-5
1-120437865-T-C p.Ser365Ser synonymous ADAM30 1 83296 1.20054E-5 41648 0 1.64756E-5
1-120437874-G-A p.Ile362Ile synonymous ADAM30 1 83306 1.20039E-5 41653 0 4.11909E-5
1-120437876-T-G p.Ile362Leu missense ADAM30 6 83312 7.20184E-5 41656 0 3.18451E-5
1-120437884-A-G p.Leu359Pro missense ADAM30 10538 83208 0.126646 41604 915 0.171736
1-120437888-T-G p.Arg358Arg synonymous ADAM30 1 83310 1.20034E-5 41655 0 8.24131E-6
1-120437892-C-T p.Arg356Arg synonymous ADAM30 1 83308 1.20036E-5 41654 0 NA
1-120437895-A-G p.Cys355Cys synonymous ADAM30 2 83304 2.40085E-5 41652 0 NA
1-120437914-T-A p.Asp349Val missense ADAM30 3 83298 3.60153E-5 41649 0 3.18512E-5
1-120437943-C-A p.Glu339Asp missense ADAM30 1 83306 1.20039E-5 41653 0 3.97719E-6
1-120437945-C-G p.Glu339Gln missense ADAM30 1 83304 1.20042E-5 41652 0 NA
1-120437951-C-A p.Ala337Ser missense ADAM30 28 83302 3.36126E-4 41651 0 4.86638E-4
1-120437958-G-A p.Thr334Thr synonymous ADAM30 6 83306 7.20236E-5 41653 0 5.56837E-5
1-120437977-T-C p.Asn328Ser missense ADAM30 2 83304 2.40085E-5 41652 0 5.17104E-5
1-120437983-T-G p.Asp326Ala missense ADAM30 1 83286 1.20068E-5 41643 0 NA
1-120437994-A-G p.Ser322Ser synonymous ADAM30 1 83266 1.20097E-5 41633 0 NA
1-120438003-T-C p.Gly319Gly synonymous ADAM30 1 83250 1.2012E-5 41625 0 4.13168E-5
1-120438004-C-G p.Gly319Ala missense ADAM30 1 83244 1.20129E-5 41622 0 NA
1-120438017-G-A p.Leu315Leu synonymous ADAM30 1 83230 1.20149E-5 41615 0 NA
1-120438026-C-G p.Val312Leu missense ADAM30 1 83216 1.20169E-5 41608 0 2.39172E-5
1-120438031-C-G p.Gly310Ala missense ADAM30 17 83212 2.04297E-4 41606 0 1.91168E-4
1-120438037-G-A p.Ser308Leu missense ADAM30 3 83204 3.6056E-5 41602 0 2.39294E-5
1-120438040-C-A p.Trp307Leu missense ADAM30 1 83200 1.20192E-5 41600 0 NA
1-120438060-T-C p.Lys300Lys synonymous ADAM30 1 83090 1.20351E-5 41545 0 NA
1-120438077-A-G p.Leu295Leu synonymous ADAM30 1 82918 1.20601E-5 41459 0 6.66411E-5
1-120438085-C-T p.Trp292* stop_gained ADAM30 4 82832 4.82905E-5 41416 1 NA
1-120438098-G-A p.Leu288Leu synonymous ADAM30 16 82666 1.9355E-4 41333 0 3.1839E-4
1-120438099-G-A p.Arg287Arg synonymous ADAM30 2 82634 2.42031E-5 41317 0 3.18451E-5
1-120438100-C-T p.Arg287His missense ADAM30 2 82600 2.42131E-5 41300 0 5.01354E-5
1-120438101-G-A p.Arg287Cys missense ADAM30 2 82566 2.4223E-5 41283 0 3.18471E-5
1-120438114-A-G p.Ser282Ser synonymous ADAM30 1 82022 1.21919E-5 41011 0 1.20618E-5
1-120438115-C-CT p.Ser282fs frameshift ADAM30 1 82000 1.21951E-5 41000 0 1.91071E-4
1-120438115-CT-C p.Ser282fs frameshift ADAM30 3 82000 3.65854E-5 41000 0 4.0223E-6
1-120438115-C-T p.Ser282Asn missense ADAM30 1 82000 1.21951E-5 41000 0 8.36848E-6
1-120438123-AT-A p.Tyr279fs frameshift ADAM30 1 81830 1.22205E-5 40915 0 NA
1-120438125-A-G p.Tyr279His missense ADAM30 2 81758 2.44624E-5 40879 0 4.02664E-6
1-120438134-A-G p.Phe276Leu missense ADAM30 1 81382 1.22877E-5 40691 0 4.027E-6
1-120438135-T-C p.Arg275Arg synonymous ADAM30 1 81336 1.22947E-5 40668 0 4.02612E-6
1-120438154-A-T p.Leu269* stop_gained ADAM30 1 80882 1.23637E-5 40441 0 4.02622E-6
1-120438168-A-T p.Val264Val synonymous ADAM30 1 80390 1.24394E-5 40195 0 NA
1-120438170-C-T p.Val264Ile missense ADAM30 15 80346 1.86693E-4 40173 0 1.50451E-4
1-120438171-G-A p.Arg263Arg synonymous ADAM30 1 80276 1.2457E-5 40138 0 6.36983E-5
1-120438172-C-T p.Arg263His missense ADAM30 5 80230 6.23208E-5 40115 0 2.50715E-5
1-120438172-C-A p.Arg263Leu missense ADAM30 2 80230 2.49283E-5 40115 0 NA
1-120438226-C-T p.Arg245His missense ADAM30 3 81594 3.67674E-5 40797 0 2.00016E-5
1-120438229-A-G p.Val244Ala missense ADAM30 1 81792 1.22261E-5 40896 0 NA
1-120438232-T-G p.Asp243Ala missense ADAM30 1 81918 1.22073E-5 40959 0 3.99706E-6
1-120438237-A-G p.Phe241Phe synonymous ADAM30 3 82132 3.65266E-5 41066 0 7.98971E-6
1-120438239-AG-A p.Gln242fs frameshift ADAM30 1 82218 1.21628E-5 41109 0 8.31338E-6
1-120438240-G-A p.Tyr240Tyr synonymous ADAM30 1 82250 1.21581E-5 41125 0 NA
1-120438247-T-A p.Asp238Val missense ADAM30 1 82488 1.2123E-5 41244 0 1.66141E-5
1-120438261-C-G p.Leu233Phe missense ADAM30 1 82850 1.207E-5 41425 0 NA
1-120438266-G-T p.Leu232Ile missense ADAM30 3 82950 3.61664E-5 41475 0 5.03525E-4
1-120438278-G-A p.His228Tyr missense ADAM30 1 83086 1.20357E-5 41543 0 1.65522E-5
1-120438289-G-C p.Ser224Cys missense ADAM30 11 83178 1.32247E-4 41589 0 1.59226E-4
1-120438289-G-A p.Ser224Phe missense ADAM30 1 83178 1.20224E-5 41589 0 3.05826E-4
1-120438295-T-C p.Asn222Ser missense ADAM30 122 83210 0.00146617 41605 0 0.00125
1-120438298-T-C p.Asn221Ser missense ADAM30 1 83218 1.20166E-5 41609 0 3.97924E-6
1-120438301-T-C p.Asn220Ser missense ADAM30 2 83236 2.40281E-5 41618 0 2.38749E-5
1-120438302-T-C p.Asn220Asp missense ADAM30 1 83234 1.20143E-5 41617 0 4.12718E-5
1-120438303-C-T p.Val219Val synonymous ADAM30 1 83236 1.2014E-5 41618 0 NA
1-120438317-T-C p.Arg215Gly missense ADAM30 4 83272 4.80354E-5 41636 0 6.25E-4
1-120438326-C-A p.Asp212Tyr missense ADAM30 2 83280 2.40154E-5 41640 0 1.27389E-4
1-120438330-G-C p.Leu210Leu synonymous ADAM30 2 83288 2.40131E-5 41644 0 3.18512E-5
1-120438359-G-A p.His201Tyr missense ADAM30 1 83314 1.20028E-5 41657 0 6.36821E-5
1-120438362-T-G p.Lys200Gln missense ADAM30 1 83314 1.20028E-5 41657 0 4.77517E-5
1-120438362-T-C p.Lys200Glu missense ADAM30 1 83314 1.20028E-5 41657 0 NA
1-120438386-G-A p.Leu192Leu synonymous ADAM30 2 83312 2.40061E-5 41656 0 8.24008E-6
1-120438388-C-T p.Arg191Lys missense ADAM30 1 83314 1.20028E-5 41657 0 3.18593E-5
1-120438390-C-T p.Ala190Ala synonymous ADAM30 1 83308 1.20036E-5 41654 0 1.64826E-5
1-120438390-C-G p.Ala190Ala synonymous ADAM30 1 83308 1.20036E-5 41654 0 NA
1-120438394-T-C p.Lys189Arg missense ADAM30 1 83310 1.20034E-5 41655 0 1.19355E-5
1-120438397-T-C p.Asn188Ser missense ADAM30 1 83304 1.20042E-5 41652 0 NA
1-120438406-G-A p.Pro185Leu missense ADAM30 2 83316 2.4005E-5 41658 0 NA
1-120438409-GC-G p.Ala184fs frameshift ADAM30 1 83300 1.20048E-5 41650 0 8.2394E-6
1-120438409-G-A p.Ala184Val missense ADAM30 1 83300 1.20048E-5 41650 0 NA
1-120438433-T-C p.Asp176Gly missense ADAM30 1 83316 1.20025E-5 41658 0 8.23818E-6
1-120438434-C-T p.Asp176Asn missense ADAM30 2 83316 2.4005E-5 41658 0 NA
1-120438443-CAC-TAA p.CysGly172PheSer missense ADAM30 7 83320 8.40134E-5 41660 0 NA
1-120438443-C-T p.Gly173Ser missense ADAM30 3 83320 3.60058E-5 41660 0 5.03525E-4
1-120438445-C-A p.Cys172Phe missense ADAM30 2 83320 2.40038E-5 41660 0 6.36862E-5
1-120438452-G-C p.Gln170Glu missense ADAM30 1 83318 1.20022E-5 41659 0 3.1841E-5
1-120438457-C-T p.Gly168Glu missense ADAM30 2 83318 2.40044E-5 41659 0 NA
1-120438457-C-G p.Gly168Ala missense ADAM30 1 83318 1.20022E-5 41659 0 NA
1-120438463-T-C p.Gln166Arg missense ADAM30 1 83320 1.20019E-5 41660 0 6.36902E-5
1-120438468-T-C p.Lys164Lys synonymous ADAM30 2 83326 2.40021E-5 41663 0 8.23764E-6
1-120438478-A-G p.Leu161Pro missense ADAM30 4 83332 4.80008E-5 41666 0 NA
1-120438486-G-A p.Val158Val synonymous ADAM30 1 83336 1.19996E-5 41668 0 8.23832E-6
1-120438488-C-A p.Val158Phe missense ADAM30 12 83334 1.43999E-4 41667 0 4.20147E-4
1-120438488-CA-C p.His157fs frameshift ADAM30 1 83334 1.19999E-5 41667 0 NA
1-120438503-G-A p.Pro153Ser missense ADAM30 2 83330 2.4001E-5 41665 0 NA
1-120438509-C-G p.Ala151Pro missense ADAM30 1 83324 1.20013E-5 41662 0 6.3678E-5
1-120438518-G-C p.Pro148Ala missense ADAM30 3 83324 3.6004E-5 41662 0 NA
1-120438523-A-G p.Ile146Thr missense ADAM30 1 83336 1.19996E-5 41668 0 NA
1-120438537-G-A p.Ala141Ala synonymous ADAM30 1 83332 1.20002E-5 41666 0 1.64791E-5
1-120438545-T-C p.Ile139Val missense ADAM30 1 83332 1.20002E-5 41666 0 4.94389E-5
1-120438553-A-G p.Val136Ala missense ADAM30 2 83328 2.40015E-5 41664 0 1.64807E-5
1-120438555-AC-A p.Gly135fs frameshift ADAM30 2 83324 2.40027E-5 41662 0 7.95665E-6
1-120438561-G-T p.Leu133Leu synonymous ADAM30 2 83322 2.40033E-5 41661 0 NA
1-120438564-A-AC p.Leu133fs frameshift ADAM30 2 83324 2.40027E-5 41662 0 3.19081E-5
1-120438565-C-T p.Gly132Asp missense ADAM30 3 83326 3.60032E-5 41663 0 NA
1-120438577-G-A p.Thr128Ile missense ADAM30 184 83334 0.00220798 41667 0 0.00347244
1-120438580-C-CTTA p.Ile126dup conservative_inframe_insertion ADAM30 1 83338 1.19993E-5 41669 0 3.97763E-6
1-120438584-T-C p.Ile126Val missense ADAM30 1 83340 1.1999E-5 41670 0 5.03525E-4
1-120438593-T-C p.Lys123Glu missense ADAM30 4 83338 4.79973E-5 41669 0 1.59256E-4
1-120438595-G-A p.Ser122Phe missense ADAM30 5 83336 5.99981E-5 41668 0 0.00251762
1-120438605-AC-A p.Glu118fs frameshift ADAM30 1 83330 1.20005E-5 41665 0 3.18898E-5
1-120438614-C-T p.Val116Met missense ADAM30 2 83310 2.40067E-5 41655 0 3.18552E-5
1-120438615-G-A p.Ser115Ser synonymous ADAM30 8 83318 9.60177E-5 41659 0 9.55414E-5
1-120438618-G-A p.Gly114Gly synonymous ADAM30 7 83318 8.40155E-5 41659 0 0.003125
1-120438618-G-C p.Gly114Gly synonymous ADAM30 1 83318 1.20022E-5 41659 0 NA
1-120438619-C-T p.Gly114Asp missense ADAM30 2 83312 2.40061E-5 41656 0 NA
1-120438620-C-T p.Gly114Ser missense ADAM30 5 83316 6.00125E-5 41658 0 1.64758E-5
1-120438634-T-C p.Asp109Gly missense ADAM30 1 83316 1.20025E-5 41658 0 NA
1-120438639-T-A p.Pro107Pro synonymous ADAM30 15 83320 1.80029E-4 41660 0 6.36299E-5
1-120438639-T-C p.Pro107Pro synonymous ADAM30 1 83320 1.20019E-5 41660 0 3.18573E-5
1-120438642-T-G p.Ile106Ile synonymous ADAM30 4 83322 4.80065E-5 41661 0 NA
1-120438644-T-G p.Ile106Leu missense ADAM30 1 83320 1.20019E-5 41660 0 3.97697E-6
1-120438657-C-T p.Glu101Glu synonymous ADAM30 2 83320 2.40038E-5 41660 0 NA
1-120438675-T-A p.Glu95Asp missense ADAM30 1 83340 1.1999E-5 41670 0 2.47121E-5
1-120438684-G-A p.Ser92Ser synonymous ADAM30 4 83352 4.79893E-5 41676 0 2.38624E-5
1-120438692-C-T p.Val90Ile missense ADAM30 1 83358 1.19964E-5 41679 0 NA
1-120438694-C-T p.Arg89His missense ADAM30 1 83358 1.19964E-5 41679 0 8.239E-6
1-120438722-T-C p.Lys80Glu missense ADAM30 1 83354 1.1997E-5 41677 0 3.97741E-6
1-120438724-G-T p.Pro79His missense ADAM30 3 83346 3.59945E-5 41673 0 7.95507E-6
1-120438735-G-A p.Leu75Leu synonymous ADAM30 1 83336 1.19996E-5 41668 0 NA
1-120438761-G-A p.Gln67* stop_gained ADAM30 1 83344 1.19985E-5 41672 0 NA
1-120438769-T-C p.Tyr64Cys missense ADAM30 2 83330 2.4001E-5 41665 0 3.18593E-5
1-120438777-G-A p.Pro61Pro synonymous ADAM30 51 83308 6.12186E-4 41654 1 0.00352467
1-120438777-G-T p.Pro61Pro synonymous ADAM30 1 83308 1.20036E-5 41654 0 8.25028E-6
1-120438796-A-C p.Val55Gly missense ADAM30 2 83292 2.40119E-5 41646 0 3.18203E-5
1-120438805-C-G p.Arg52Pro missense ADAM30 3 83300 3.60144E-5 41650 0 3.97725E-6
1-120438811-C-T p.Ser50Asn missense ADAM30 4 83290 4.8025E-5 41645 0 1.5908E-5
1-120438822-A-G p.Pro46Pro synonymous ADAM30 1 83280 1.20077E-5 41640 0 3.1841E-5
1-120438824-G-A p.Pro46Ser missense ADAM30 1 83276 1.20083E-5 41638 0 NA
1-120438827-T-C p.Ile45Val missense ADAM30 862 83268 0.0103521 41634 3 0.0266868
1-120438845-C-A p.Asp39Tyr missense ADAM30 1 83224 1.20158E-5 41612 0 1.6524E-5
1-120438853-C-T p.Gly36Glu missense ADAM30 5 83234 6.00716E-5 41617 0 3.97791E-6
1-120438864-A-C p.Phe32Leu missense ADAM30 1 83238 1.20137E-5 41619 0 NA
1-120438873-A-G p.Asp29Asp synonymous ADAM30 1 83260 1.20106E-5 41630 0 3.98502E-6
1-120438879-G-A p.Gly27Gly synonymous ADAM30 1 83250 1.2012E-5 41625 0 6.37064E-5
1-120438891-A-C p.Leu23Leu synonymous ADAM30 2 83264 2.402E-5 41632 0 NA
1-120438897-C-G p.Met21Ile missense ADAM30 1 83258 1.20109E-5 41629 0 NA
1-120438902-T-C p.Thr20Ala missense ADAM30 4 83252 4.80469E-5 41626 0 9.55475E-5
1-120438903-C-T p.Pro19Pro synonymous ADAM30 1 83256 1.20111E-5 41628 0 4.30389E-5
1-120438912-T-C p.Leu16Leu synonymous ADAM30 1 83240 1.20135E-5 41620 0 0.00331316
1-120438919-A-C p.Leu14Arg missense ADAM30 2 83238 2.40275E-5 41619 0 NA
1-120438926-G-C p.Arg12Gly missense ADAM30 1 83214 1.20172E-5 41607 0 NA
1-120438930-T-G p.Gln10His missense ADAM30 1 83208 1.20181E-5 41604 0 NA
1-120438955-C-T p.Arg2Lys missense ADAM30 2 83126 2.40599E-5 41563 0 3.18634E-5
1-120439098-T-C c.-139A>G 5_prime_UTR_premature_start_codon_gain ADAM30 1 76756 1.30283E-5 38378 0 NA