Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-127705849-CACTT-C p.Lys909fs frameshift ADAM12 4 82050 4.87508E-5 41025 0 7.08316E-5
10-127705854-A-C p.Ile908Met missense ADAM12 1 82044 1.21886E-5 41022 0 4.53128E-6
10-127705856-T-C p.Ile908Val missense ADAM12 2390 82006 0.0291442 41003 34 0.0478366
10-127705857-A-G p.Tyr907Tyr synonymous ADAM12 3 82046 3.65649E-5 41023 0 2.30872E-5
10-127705863-G-A p.Thr905Thr synonymous ADAM12 20 82016 2.43855E-4 41008 0 0.00168763
10-127705864-G-C p.Thr905Ser missense ADAM12 8 82004 9.75562E-5 41002 0 0.00302419
10-127705866-G-A p.His904His synonymous ADAM12 1 81930 1.22055E-5 40965 0 NA
10-127705868-G-A p.His904Tyr missense ADAM12 1 81890 1.22115E-5 40945 0 NA
10-127705873-G-A p.Ser902Phe missense ADAM12 21 81836 2.56611E-4 40918 0 0.00352823
10-127705900-G-A p.Pro893Leu missense ADAM12 1 81746 1.2233E-5 40873 0 NA
10-127705901-G-A p.Pro893Ser missense ADAM12 8 81728 9.78857E-5 40864 0 1.50353E-4
10-127708259-C-T c.2669+5G>A splice_region ADAM12 1 83020 1.20453E-5 41510 0 4.00898E-6
10-127708259-C-A c.2669+5G>T splice_region ADAM12 1 83020 1.20453E-5 41510 0 NA
10-127708268-G-C p.Leu889Val missense ADAM12 4 83064 4.81556E-5 41532 0 5.03525E-4
10-127708271-G-A p.Pro888Ser missense ADAM12 40 83060 4.8158E-4 41530 0 0.00159276
10-127708279-C-A p.Arg885Leu missense ADAM12 1 83052 1.20406E-5 41526 0 8.26679E-6
10-127708286-C-T p.Gly883Arg missense ADAM12 1 83074 1.20375E-5 41537 0 9.55657E-5
10-127708304-G-T p.Pro877Thr missense ADAM12 1 83078 1.20369E-5 41539 0 NA
10-127708304-G-C p.Pro877Ala missense ADAM12 1 83078 1.20369E-5 41539 0 3.29826E-5
10-127708315-A-G p.Leu873Ser missense ADAM12 1 83104 1.20331E-5 41552 0 8.24647E-6
10-127708330-C-T p.Arg868Gln missense ADAM12 4 83112 4.81278E-5 41556 0 0.00100705
10-127708331-G-A p.Arg868Trp missense ADAM12 1 83114 1.20317E-5 41557 0 3.98067E-6
10-127708340-T-C p.Arg865Gly missense ADAM12 1 83148 1.20267E-5 41574 0 3.18492E-5
10-127708349-G-A p.Pro862Ser missense ADAM12 1 83166 1.20241E-5 41583 0 3.18552E-5
10-127708355-C-T p.Ala860Thr missense ADAM12 4 83148 4.8107E-5 41574 0 3.18593E-5
10-127708356-A-G p.Pro859Pro synonymous ADAM12 1 83152 1.20262E-5 41576 0 1.67252E-5
10-127708357-G-C p.Pro859Arg missense ADAM12 2 83144 2.40547E-5 41572 0 1.59241E-5
10-127708376-G-T p.Pro853Thr missense ADAM12 3 83094 3.61037E-5 41547 0 7.98403E-6
10-127708377-G-A p.Asn852Asn synonymous ADAM12 36 83088 4.33276E-4 41544 0 4.46286E-4
10-127708377-G-T p.Asn852Lys missense ADAM12 1 83088 1.20354E-5 41544 0 3.99278E-6
10-127708378-T-G p.Asn852Thr missense ADAM12 2 83052 2.40813E-5 41526 0 7.99309E-6
10-127708386-A-G p.Cys849Cys synonymous ADAM12 4 82994 4.81963E-5 41497 0 1.20328E-5
10-127708389-G-C p.Thr848Thr synonymous ADAM12 1 82962 1.20537E-5 41481 0 9.27644E-6
10-127708400-A-G c.2539-6T>C splice_region ADAM12 1 82864 1.2068E-5 41432 0 4.08153E-6
10-127724709-G-A c.2538+6C>T splice_region ADAM12 1 80282 1.24561E-5 40141 0 NA
10-127724750-G-A p.Pro835Ser missense ADAM12 3 82214 3.64901E-5 41107 0 1.74984E-5
10-127724758-G-C p.Pro832Arg missense ADAM12 1 82314 1.21486E-5 41157 0 5.06073E-4
10-127724761-A-T p.Val831Asp missense ADAM12 2 82270 2.43102E-5 41135 0 NA
10-127724762-C-T p.Val831Ile missense ADAM12 6 82276 7.29253E-5 41138 0 3.16803E-5
10-127724763-G-A p.Ser830Ser synonymous ADAM12 1 82276 1.21542E-5 41138 0 5.06073E-4
10-127724765-T-C p.Ser830Gly missense ADAM12 4 82392 4.85484E-5 41196 0 8.52922E-6
10-127724776-GGA-AGG p.AlaPro825AlaLeu missense ADAM12 1 82574 1.21103E-5 41287 0 NA
10-127724778-A-G p.Ala825Ala synonymous ADAM12 19048 81812 0.232826 40906 2300 0.280331
10-127724779-G-C p.Ala825Gly missense ADAM12 3 82606 3.6317E-5 41303 0 NA
10-127724783-G-T p.Arg824Arg synonymous ADAM12 203 82602 0.00245757 41301 2 0.0105847
10-127724783-G-C p.Arg824Gly missense ADAM12 1 82614 1.21045E-5 41307 0 NA
10-127724784-G-A p.His823His synonymous ADAM12 46 82634 5.56672E-4 41317 0 0.00252016
10-127724787-G-A p.Leu822Leu synonymous ADAM12 1 82668 1.20966E-5 41334 0 8.32847E-6
10-127724788-A-AG p.Leu822fs frameshift ADAM12 2 82632 2.42037E-5 41316 0 3.18695E-5
10-127724804-G-A p.Arg817* stop_gained ADAM12 2 82800 2.41546E-5 41400 0 3.18492E-5
10-127724811-T-A p.Ser814Ser synonymous ADAM12 1 82880 1.20656E-5 41440 0 8.27499E-6
10-127724814-C-T p.Gln813Gln synonymous ADAM12 1 82898 1.2063E-5 41449 0 1.91083E-4
10-127724814-C-G p.Gln813His missense ADAM12 1 82898 1.2063E-5 41449 0 NA
10-127724837-C-T p.Gly806Ser missense ADAM12 1 83038 1.20427E-5 41519 0 6.37105E-5
10-127724838-G-A p.Asn805Asn synonymous ADAM12 1 83104 1.20331E-5 41552 0 3.30104E-5
10-127724850-G-T p.Ser801Arg missense ADAM12 1 83088 1.20354E-5 41544 0 NA
10-127724881-C-A p.Arg791Ile missense ADAM12 1 83006 1.20473E-5 41503 0 3.29679E-5
10-127724881-C-T p.Arg791Lys missense ADAM12 1 83006 1.20473E-5 41503 0 NA
10-127724883-CCT-C p.Arg790fs frameshift ADAM12 1 83016 1.20459E-5 41508 0 NA
10-127724886-G-A p.Pro789Pro synonymous ADAM12 1 83020 1.20453E-5 41510 0 NA
10-127724892-G-C p.Asp787Glu missense+splice_region ADAM12 8 83058 9.63182E-5 41529 0 2.54745E-4
10-127724896-T-C c.2359-2A>G splice_acceptor ADAM12 1 83020 1.20453E-5 41510 0 NA
10-127724899-A-ACAGT c.2359-6_2359-5insACTG splice_region ADAM12 1 83008 1.2047E-5 41504 0 4.78492E-6
10-127724900-C-T c.2359-6G>A splice_region ADAM12 1 82994 1.20491E-5 41497 0 2.47427E-5
10-127724900-C-A c.2359-6G>T splice_region ADAM12 1 82994 1.20491E-5 41497 0 3.18431E-5
10-127726813-C-T p.Pro785Pro synonymous ADAM12 3 82118 3.65328E-5 41059 0 3.03334E-5
10-127726816-TG-T p.Pro784fs frameshift ADAM12 1 82150 1.21729E-5 41075 0 NA
10-127726831-C-T p.Pro779Pro synonymous ADAM12 1 82210 1.2164E-5 41105 0 5.33925E-5
10-127726832-G-A p.Pro779Leu missense ADAM12 5 82240 6.07977E-5 41120 0 8.38022E-5
10-127726846-G-A p.Gly774Gly synonymous ADAM12 281 82270 0.00341558 41135 4 0.0083742
10-127726849-T-C p.Lys773Lys synonymous ADAM12 209 82278 0.00254017 41139 1 0.00465057
10-127726853-C-T p.Gly772Glu missense ADAM12 1 82280 1.21536E-5 41140 0 NA
10-127726857-G-C p.Leu771Val missense ADAM12 1 82290 1.21521E-5 41145 0 1.02788E-5
10-127726863-C-T p.Gly769Ser missense ADAM12 1 82258 1.21569E-5 41129 0 1.00949E-5
10-127726864-G-A p.Leu768Leu synonymous ADAM12 4 82284 4.86121E-5 41142 0 6.36983E-5
10-127726881-G-T p.Pro763Thr missense ADAM12 1 82318 1.2148E-5 41159 0 2.95032E-5
10-127726892-C-T p.Arg759His missense ADAM12 1 82262 1.21563E-5 41131 0 3.18492E-5
10-127726894-G-T p.Pro758Pro synonymous ADAM12 1 82304 1.21501E-5 41152 0 NA
10-127726901-C-T p.Arg756Gln missense ADAM12 1 82206 1.21646E-5 41103 0 0.0010101
10-127726902-G-A p.Arg756Trp missense ADAM12 1 82208 1.21643E-5 41104 0 3.18532E-5
10-127726910-C-T p.Arg753His missense ADAM12 6 82108 7.30745E-5 41054 0 6.37349E-5
10-127726911-G-A p.Arg753Cys missense ADAM12 1 82098 1.21806E-5 41049 0 4.45583E-5
10-127727857-G-A c.2249+6C>T splice_region ADAM12 1 83284 1.20071E-5 41642 0 NA
10-127727881-GTCT-G p.Lys743del disruptive_inframe_deletion ADAM12 6 83328 7.20046E-5 41664 0 9.57854E-5
10-127727884-T-G p.Lys743Thr missense ADAM12 1 83328 1.20008E-5 41664 0 0.00125
10-127727888-T-C p.Lys742Glu missense ADAM12 3 83328 3.60023E-5 41664 0 1.59337E-4
10-127727903-G-A p.Leu737Leu synonymous ADAM12 155 83326 0.00186016 41663 3 0.00408059
10-127727905-C-T p.Arg736Gln missense ADAM12 2 83324 2.40027E-5 41662 0 4.11855E-5
10-127727913-G-A p.Thr733Thr synonymous ADAM12 198 83334 0.00237598 41667 3 0.00875
10-127727916-C-A p.Lys732Asn missense ADAM12 5 83338 5.99966E-5 41669 0 1.27567E-4
10-127727916-C-G p.Lys732Asn missense ADAM12 3 83340 3.59971E-5 41670 0 1.27567E-4
10-127727920-C-CTTT p.Lys730dup conservative_inframe_insertion ADAM12 3 83342 3.59963E-5 41671 0 1.64747E-5
10-127727928-A-G p.Tyr728Tyr synonymous ADAM12 2 83344 2.39969E-5 41672 0 3.18654E-5
10-127727934-C-T p.Val726Val synonymous ADAM12 2 83340 2.39981E-5 41670 0 8.23723E-6
10-127727938-A-C p.Phe725Cys missense ADAM12 1 83346 1.19982E-5 41673 0 NA
10-127727942-C-T p.Gly724Arg missense ADAM12 5 83346 5.99909E-5 41673 0 4.37417E-5
10-127727943-G-A p.Ala723Ala synonymous ADAM12 2 83342 2.39975E-5 41671 0 8.2371E-5
10-127727949-A-C p.Leu721Leu synonymous ADAM12 1 83334 1.19999E-5 41667 0 NA
10-127727959-A-C p.Leu718Arg missense ADAM12 1 83340 1.1999E-5 41670 0 NA
10-127727961-GA-G p.Ile717fs frameshift ADAM12 1 83336 1.19996E-5 41668 0 NA
10-127727967-C-A p.Val715Val synonymous ADAM12 10 83330 1.20005E-4 41665 0 1.91192E-4
10-127727972-G-T p.Leu714Met missense ADAM12 1 83334 1.19999E-5 41667 0 8.2375E-6
10-127727990-C-T p.Gly708Ser missense ADAM12 1 83330 1.20005E-5 41665 0 5.04032E-4
10-127727994-G-A p.Asn706Asn synonymous ADAM12 34 83316 4.08085E-4 41658 0 4.53324E-4
10-127728005-C-G c.2114-7G>C splice_region ADAM12 410 55452 0.00739378 27726 8 0.0147246
10-127730709-G-C p.Leu737Val missense ADAM12 1 81938 1.22043E-5 40969 0 NA
10-127730715-G-T p.Leu735Met missense ADAM12 4 82126 4.87056E-5 41063 0 1.19673E-5
10-127730715-G-A p.Leu735Leu synonymous ADAM12 1 82126 1.21764E-5 41063 0 NA
10-127730720-G-C p.Ala733Gly missense ADAM12 1 82268 1.21554E-5 41134 0 NA
10-127730724-T-C p.Thr732Ala missense ADAM12 1 82396 1.21365E-5 41198 0 3.1841E-5
10-127730727-A-C p.Ser731Ala missense ADAM12 1 82468 1.21259E-5 41234 0 NA
10-127730728-C-T p.Ala730Ala synonymous ADAM12 5115 82230 0.0622036 41115 313 0.10574
10-127730729-G-A p.Ala730Val missense ADAM12 3 82448 3.63866E-5 41224 0 1.9938E-5
10-127730740-C-T p.Ser726Ser synonymous ADAM12 1 82620 1.21036E-5 41310 0 1.59431E-5
10-127730748-C-T p.Val724Met missense ADAM12 3 82732 3.62617E-5 41366 0 3.30836E-5
10-127730749-G-A p.Pro723Pro synonymous ADAM12 2 82728 2.41756E-5 41364 0 2.39086E-5
10-127730766-C-T p.Gly718Ser missense ADAM12 1 82830 1.20729E-5 41415 0 4.13312E-5
10-127730767-G-A p.Arg717Arg synonymous ADAM12 3 82826 3.62205E-5 41413 0 0.001875
10-127730768-C-T p.Arg717His missense ADAM12 11 82832 1.32799E-4 41416 0 0.00100705
10-127730768-C-A p.Arg717Leu missense ADAM12 2 82832 2.41453E-5 41416 0 3.30671E-5
10-127730769-G-A p.Arg717Cys missense ADAM12 16 82840 1.93143E-4 41420 0 5.78713E-5
10-127730775-T-C p.Arg715Gly missense ADAM12 1 82908 1.20616E-5 41454 0 3.98429E-6
10-127730784-C-T p.Glu712Lys missense ADAM12 3 82916 3.61812E-5 41458 0 NA
10-127730785-T-C p.Ala711Ala synonymous ADAM12 1 82916 1.20604E-5 41458 0 3.98657E-6
10-127731605-T-C c.2113+4A>G splice_region ADAM12 29 82754 3.50436E-4 41377 0 6.0525E-4
10-127731608-C-A c.2113+1G>T splice_donor ADAM12 1 82804 1.20767E-5 41402 0 NA
10-127731611-G-A p.Ala704Val missense+splice_region ADAM12 9 82836 1.08648E-4 41418 0 2.54793E-4
10-127731617-C-T p.Arg702Gln missense ADAM12 11 82892 1.32703E-4 41446 0 9.55597E-5
10-127731628-G-A p.Ser698Ser synonymous ADAM12 2 82990 2.40993E-5 41495 0 3.18512E-5
10-127731667-G-A p.Pro685Pro synonymous ADAM12 2 83170 2.40471E-5 41585 0 5.81106E-5
10-127731675-C-T p.Ala683Thr missense ADAM12 1 83144 1.20273E-5 41572 0 NA
10-127731680-T-C p.His681Arg missense ADAM12 5 83138 6.0141E-5 41569 0 3.18552E-5
10-127731687-C-T p.Glu679Lys missense ADAM12 2 83104 2.40662E-5 41552 0 6.37227E-5
10-127731688-G-A p.Cys678Cys synonymous ADAM12 5 83092 6.01743E-5 41546 0 2.38766E-5
10-127731690-A-G p.Cys678Arg missense ADAM12 1 83066 1.20386E-5 41533 0 NA
10-127731703-C-T p.Arg673Arg synonymous ADAM12 1 82930 1.20584E-5 41465 0 NA
10-127731717-C-G p.Val669Leu missense+splice_region ADAM12 2 82682 2.41891E-5 41341 0 3.18552E-5
10-127731719-T-TTTAG c.2005-3_2005-2insCTAA splice_region ADAM12 1 82632 1.21018E-5 41316 0 NA
10-127731724-G-C c.2005-7C>G splice_region ADAM12 1 82450 1.21286E-5 41225 0 3.18593E-5
10-127734615-C-CCTA c.2004+8_2004+9insTAG splice_region ADAM12 6 83314 7.20167E-5 41657 0 2.78447E-4
10-127734624-C-A p.Gly668Gly splice_region+synonymous ADAM12 2 83326 2.40021E-5 41663 0 NA
10-127734632-C-T p.Gly666Ser missense ADAM12 3 83336 3.59988E-5 41668 0 1.59215E-4
10-127734633-G-A p.His665His synonymous ADAM12 2 83338 2.39987E-5 41669 0 3.18492E-5
10-127734635-G-A p.His665Tyr missense ADAM12 1 83340 1.1999E-5 41670 0 3.18431E-5
10-127734644-T-C p.Met662Val missense ADAM12 260 83352 0.0031193 41676 1 0.00741944
10-127734649-C-T p.Cys660Tyr missense ADAM12 1 83358 1.19964E-5 41679 0 NA
10-127734654-G-A p.His658His synonymous ADAM12 1 83362 1.19959E-5 41681 0 1.19297E-5
10-127734670-C-T p.Ser653Asn missense ADAM12 3 83368 3.5985E-5 41684 0 NA
10-127734684-T-C p.Gln648Gln synonymous ADAM12 1 83362 1.19959E-5 41681 0 NA
10-127734688-C-T p.Arg647His missense ADAM12 2 83350 2.39952E-5 41675 0 3.29511E-5
10-127734703-T-G c.1927-2A>C splice_acceptor ADAM12 1 83342 1.19988E-5 41671 0 NA
10-127734708-G-A c.1927-7C>T splice_region ADAM12 1 83330 1.20005E-5 41665 0 8.23873E-6
10-127737819-T-C c.1926+3A>G splice_region ADAM12 1 82410 1.21345E-5 41205 0 NA
10-127737830-C-A p.Asp640Tyr missense ADAM12 1 82760 1.20831E-5 41380 0 1.8186E-4
10-127737853-A-G p.Val632Ala missense ADAM12 1 83078 1.20369E-5 41539 0 NA
10-127737855-A-G p.Leu631Leu synonymous ADAM12 17 83100 2.04573E-4 41550 0 0.00100705
10-127737862-G-A p.Pro629Leu missense ADAM12 2 83152 2.40523E-5 41576 0 NA
10-127737863-G-A p.Pro629Ser missense ADAM12 1 83160 1.2025E-5 41580 0 NA
10-127737867-C-T p.Pro627Pro synonymous ADAM12 3 83170 3.60707E-5 41585 0 1.074E-4
10-127737868-G-A p.Pro627Leu missense ADAM12 5 83162 6.01236E-5 41581 0 4.12038E-5
10-127737878-C-T p.Asp624Asn missense ADAM12 2 83216 2.40338E-5 41608 0 0.00100705
10-127737879-G-A p.Gly623Gly synonymous ADAM12 2 83214 2.40344E-5 41607 0 1.64764E-5
10-127737880-C-T p.Gly623Asp missense ADAM12 2 83214 2.40344E-5 41607 0 NA
10-127737887-A-G p.Tyr621His missense ADAM12 2 83246 2.40252E-5 41623 0 5.76663E-5
10-127737890-C-T p.Val620Met missense ADAM12 2 83240 2.40269E-5 41620 0 1.64761E-5
10-127737891-G-A p.His619His synonymous ADAM12 3 83248 3.60369E-5 41624 0 8.23805E-6
10-127737894-G-T p.Thr618Thr synonymous ADAM12 1 83262 1.20103E-5 41631 0 3.97693E-6
10-127737896-T-C p.Thr618Ala missense ADAM12 8 83268 9.60753E-5 41634 0 9.14746E-5
10-127737897-C-A p.Gly617Gly synonymous ADAM12 2 83278 2.40159E-5 41639 0 NA
10-127737901-C-T p.Arg616Gln missense ADAM12 1 83272 1.20088E-5 41636 0 3.18329E-5
10-127737913-C-T p.Arg612Gln missense ADAM12 2 83272 2.40177E-5 41636 0 1.27332E-4
10-127737914-G-A p.Arg612Trp missense ADAM12 3 83280 3.60231E-5 41640 0 6.36699E-5
10-127737918-T-A p.Gly610Gly synonymous ADAM12 5 83296 6.00269E-5 41648 0 4.77187E-4
10-127737926-G-T p.Gln608Lys missense ADAM12 2 83308 2.40073E-5 41654 0 NA
10-127737927-C-G p.Leu607Leu synonymous ADAM12 1 83300 1.20048E-5 41650 0 7.95317E-6
10-127737930-G-A p.Pro606Pro synonymous ADAM12 12596 83090 0.151595 41545 1024 0.20292
10-127737954-G-A p.Ala598Ala synonymous ADAM12 2 83314 2.40056E-5 41657 0 1.31228E-4
10-127737958-T-C p.Asn597Ser missense ADAM12 168 83304 0.00201671 41652 0 0.004375
10-127737962-T-C p.Thr596Ala missense ADAM12 20 83302 2.4009E-4 41651 0 2.62457E-4
10-127737967-A-G p.Ile594Thr missense ADAM12 4 83308 4.80146E-5 41654 0 3.62414E-4
10-127737975-C-T p.Arg591Arg synonymous ADAM12 3 83302 3.60135E-5 41651 0 3.18492E-5
10-127737976-C-T p.Arg591Gln missense ADAM12 3 83296 3.60161E-5 41648 0 1.98855E-5
10-127738000-A-G p.Ile583Thr missense ADAM12 1 83278 1.2008E-5 41639 0 NA
10-127738009-C-T p.Cys580Tyr missense ADAM12 2 83268 2.40188E-5 41634 0 3.18492E-5
10-127738028-G-A c.1728-8C>T splice_region ADAM12 2 83264 2.402E-5 41632 0 3.97801E-6
10-127738126-A-G c.1727+4T>C splice_region ADAM12 1 83280 1.20077E-5 41640 0 NA
10-127738138-G-A p.Cys573Cys synonymous ADAM12 25 83272 3.00221E-4 41636 0 1.82946E-4
10-127738138-G-C p.Cys573Trp missense ADAM12 10 83272 1.20088E-4 41636 0 3.18512E-5
10-127738159-C-T p.Ser566Ser synonymous ADAM12 1 83276 1.20083E-5 41638 0 1.98847E-5
10-127738180-A-G p.Tyr559Tyr synonymous ADAM12 1 83238 1.20137E-5 41619 0 6.25E-4
10-127738189-A-G p.Gly556Gly synonymous ADAM12 1 83216 1.20169E-5 41608 0 3.97731E-6
10-127738214-C-T p.Cys548Tyr missense ADAM12 1 83144 1.20273E-5 41572 0 NA
10-127753367-C-A c.1618+8G>T splice_region ADAM12 34 80664 4.21502E-4 40332 0 7.49895E-4
10-127753370-C-T c.1618+5G>A splice_region ADAM12 1 80750 1.23839E-5 40375 0 3.1841E-5
10-127753371-G-A c.1618+4C>T splice_region ADAM12 48 80702 5.94781E-4 40351 0 0.00314429
10-127753382-C-T p.Trp537* stop_gained ADAM12 1 81086 1.23326E-5 40543 0 4.25344E-6
10-127753387-G-T p.Leu536Ile missense ADAM12 1 81078 1.23338E-5 40539 0 NA
10-127753388-C-T p.Thr535Thr synonymous ADAM12 8638 80680 0.107065 40340 507 0.122099
10-127753389-G-A p.Thr535Met missense ADAM12 5 81076 6.16705E-5 40538 0 9.55414E-5
10-127753400-C-T p.Gln531Gln synonymous ADAM12 3 81280 3.69094E-5 40640 0 8.24906E-6
10-127753405-C-T p.Glu530Lys missense ADAM12 1 81264 1.23056E-5 40632 0 3.1841E-5
10-127753406-G-A p.His529His synonymous ADAM12 1 81274 1.23041E-5 40637 0 3.1839E-5
10-127753418-G-A p.Ile525Ile synonymous ADAM12 1 81460 1.2276E-5 40730 0 4.059E-6
10-127753425-T-C p.Asn523Ser missense ADAM12 6 81522 7.35998E-5 40761 0 7.28014E-5
10-127753438-C-T p.Gly519Ser missense ADAM12 24 81482 2.94544E-4 40741 0 5.04032E-4
10-127753439-G-A p.Asp518Asp synonymous ADAM12 18 81494 2.20875E-4 40747 0 0.00504032
10-127753441-C-T p.Asp518Asn missense ADAM12 1 81520 1.22669E-5 40760 0 9.87167E-6
10-127753465-C-T p.Asp510Asn missense ADAM12 4 81506 4.90761E-5 40753 0 2.82417E-5
10-127753478-G-A p.Asn505Asn synonymous ADAM12 21715 80756 0.268896 40378 3184 0.350302
10-127753497-C-G p.Ser499Thr missense ADAM12 114 81086 0.00140591 40543 0 0.00283512
10-127753520-G-C p.Leu491Leu synonymous ADAM12 1 80548 1.2415E-5 40274 0 NA
10-127753546-T-C p.Arg483Gly missense ADAM12 3 78736 3.8102E-5 39368 0 4.19076E-5
10-127753550-C-T p.Ala481Ala synonymous ADAM12 9 78086 1.15258E-4 39043 0 1.27776E-4
10-127753551-G-A p.Ala481Val missense ADAM12 6 77946 7.69764E-5 38973 0 5.03525E-4
10-127753563-G-A p.Pro477Leu missense ADAM12 2 76768 2.60525E-5 38384 0 NA
10-127753565-C-T p.Lys476Lys synonymous ADAM12 1 76296 1.31068E-5 38148 0 8.08968E-5
10-127755283-C-T c.1422+3G>A splice_region ADAM12 1 82888 1.20645E-5 41444 0 NA
10-127755292-G-A p.Asp472Asp synonymous ADAM12 2 82970 2.41051E-5 41485 0 3.18451E-5
10-127755298-A-C p.Cys470Trp missense ADAM12 2 82996 2.40975E-5 41498 0 8.24402E-6
10-127755312-G-A p.His466Tyr missense ADAM12 7 83014 8.43231E-5 41507 1 7.95545E-6
10-127755315-C-T p.Ala465Thr missense ADAM12 1 83020 1.20453E-5 41510 0 5.03525E-4
10-127755321-C-T p.Val463Met missense ADAM12 2 83038 2.40854E-5 41519 0 3.97779E-6
10-127755324-C-T p.Ala462Thr missense ADAM12 3 83030 3.61315E-5 41515 0 1.98888E-5
10-127755325-G-A p.Asp461Asp synonymous ADAM12 36 83028 4.33589E-4 41514 0 6.25E-4
10-127755327-C-T p.Asp461Asn missense ADAM12 1 83046 1.20415E-5 41523 0 6.3678E-5
10-127755328-C-T p.Pro460Pro synonymous ADAM12 5 83036 6.02148E-5 41518 0 1.23658E-4
10-127755354-T-C p.Asn452Asp missense ADAM12 2 82958 2.41086E-5 41479 0 NA
10-127755362-C-T p.Arg449His missense ADAM12 4 82836 4.82882E-5 41418 0 2.48275E-5
10-127755366-TCATA-T p.Cys446fs frameshift ADAM12 2 82808 2.41523E-5 41404 0 NA
10-127755377-TG-T c.1333-3delC splice_region ADAM12 1 82658 1.2098E-5 41329 0 3.98089E-6
10-127760061-G-A p.Asp439Asp synonymous ADAM12 1 83322 1.20016E-5 41661 0 NA
10-127760062-TCA-T p.Cys438fs frameshift ADAM12 2 83326 2.40021E-5 41663 0 NA
10-127760081-C-G p.Glu433Gln missense ADAM12 1 83330 1.20005E-5 41665 0 8.23968E-6
10-127760100-CT-C p.Lys426fs frameshift ADAM12 2 83330 2.4001E-5 41665 0 NA
10-127760103-C-T p.Gln425Gln synonymous ADAM12 4 83322 4.80065E-5 41661 0 3.18451E-5
10-127760106-G-C p.Gly424Gly synonymous ADAM12 3 83320 3.60058E-5 41660 0 NA
10-127760111-C-T p.Gly423Arg missense ADAM12 3 83322 3.60049E-5 41661 0 9.54662E-5
10-127760111-C-G p.Gly423Arg missense ADAM12 2 83322 2.40033E-5 41661 0 NA
10-127760112-G-A p.Phe422Phe synonymous ADAM12 1 83322 1.20016E-5 41661 0 3.18654E-5
10-127760113-A-G p.Phe422Ser missense ADAM12 2 83316 2.4005E-5 41658 0 NA
10-127760118-C-T p.Glu420Glu synonymous ADAM12 2 83320 2.40038E-5 41660 0 3.18492E-5
10-127760130-C-T p.Pro416Pro synonymous ADAM12 12 83304 1.44051E-4 41652 0 6.25E-4
10-127760144-G-A p.Leu412Leu synonymous ADAM12 1 83270 1.20091E-5 41635 0 1.59114E-5
10-127760145-G-A p.Cys411Cys synonymous ADAM12 5 83254 6.00572E-5 41627 0 0.00100705
10-127760148-C-T p.Val410Val synonymous ADAM12 4 83252 4.80469E-5 41626 0 3.18512E-5
10-127760150-C-T p.Val410Met missense ADAM12 3 83266 3.60291E-5 41633 0 8.24389E-6
10-127760151-C-T p.Gly409Gly synonymous ADAM12 1 83268 1.20094E-5 41634 0 NA
10-127760175-C-T p.Glu401Glu synonymous ADAM12 2 83230 2.40298E-5 41615 0 NA
10-127760185-T-C p.Lys398Arg missense ADAM12 6 83228 7.20911E-5 41614 0 1.91144E-4
10-127760188-C-T p.Arg397Lys missense ADAM12 1 83224 1.20158E-5 41612 0 NA
10-127760193-G-A p.Cys395Cys synonymous ADAM12 8 83218 9.61331E-5 41609 0 0.00100705
10-127760200-C-T p.Ser393Asn missense ADAM12 1 83210 1.20178E-5 41605 0 NA
10-127760205-C-A p.Val391Val synonymous ADAM12 1 83190 1.20207E-5 41595 0 NA
10-127760211-G-C p.Pro389Pro synonymous ADAM12 1 83190 1.20207E-5 41595 0 NA
10-127760221-T-A p.Tyr386Phe missense+splice_region ADAM12 1 83136 1.20285E-5 41568 0 3.98206E-6
10-127782555-C-T p.Gly385Arg missense+splice_region ADAM12 4 83268 4.80377E-5 41634 0 9.55901E-5
10-127782556-G-A p.Thr384Thr splice_region+synonymous ADAM12 4 83274 4.80342E-5 41637 0 9.55718E-5
10-127782564-C-T p.Ala382Thr missense ADAM12 2 83302 2.4009E-5 41651 0 4.37619E-5
10-127782565-G-A p.Asn381Asn synonymous ADAM12 5 83302 6.00226E-5 41651 0 3.18593E-5
10-127782592-C-T p.Ala372Ala synonymous ADAM12 21 83322 2.52034E-4 41661 0 0.00100705
10-127782592-C-A p.Ala372Ala synonymous ADAM12 1 83322 1.20016E-5 41661 0 NA
10-127782593-G-A p.Ala372Val missense ADAM12 2 83322 2.40033E-5 41661 0 8.23832E-6
10-127782606-T-C p.Ser368Gly missense ADAM12 1 83328 1.20008E-5 41664 0 3.97687E-6
10-127782607-A-G p.Cys367Cys synonymous ADAM12 1 83326 1.20011E-5 41663 0 3.977E-6
10-127782622-T-A p.Thr362Thr synonymous ADAM12 2 83324 2.40027E-5 41662 0 NA
10-127782622-T-C p.Thr362Thr synonymous ADAM12 1 83324 1.20013E-5 41662 0 3.97731E-6
10-127782637-C-G p.Gly357Gly synonymous ADAM12 68 83306 8.16268E-4 41653 0 0.00100705
10-127782672-C-T p.Val346Met missense ADAM12 1 83180 1.20221E-5 41590 0 1.5918E-5
10-127782687-G-C p.Pro341Ala missense ADAM12 1 83096 1.20343E-5 41548 0 3.98238E-6
10-127786979-G-A c.1005+6C>T splice_region ADAM12 1 83176 1.20227E-5 41588 0 8.2375E-6
10-127786984-C-A c.1005+1G>T splice_donor ADAM12 2 83186 2.40425E-5 41593 0 NA
10-127786987-T-C p.Met335Val missense+splice_region ADAM12 1 83196 1.20198E-5 41598 0 NA
10-127786997-C-T p.Gly331Gly synonymous ADAM12 2 83220 2.40327E-5 41610 0 NA
10-127787010-G-C p.Ala327Gly missense ADAM12 1 83260 1.20106E-5 41630 0 2.38656E-5
10-127787012-C-T p.Thr326Thr synonymous ADAM12 571 83232 0.00686034 41616 6 0.028125
10-127787013-G-A p.Thr326Met missense ADAM12 3 83248 3.60369E-5 41624 0 1.19332E-5
10-127787026-T-C p.Met322Val missense ADAM12 1 83264 1.201E-5 41632 0 NA
10-127787027-G-T p.Ile321Ile synonymous ADAM12 1 83264 1.201E-5 41632 0 3.97763E-6
10-127787029-T-C p.Ile321Val missense ADAM12 3 83252 3.60352E-5 41626 0 1.19332E-5
10-127787032-G-C p.Pro320Ala missense ADAM12 3 83258 3.60326E-5 41629 0 1.19331E-5
10-127787042-G-A p.Ile316Ile synonymous ADAM12 8 83258 9.60869E-5 41629 0 1.73062E-4
10-127787048-G-C p.Thr314Thr synonymous ADAM12 3 83238 3.60412E-5 41619 0 1.64859E-5
10-127787054-T-C p.Gln312Gln synonymous ADAM12 6 83234 7.20859E-5 41617 0 3.29788E-5
10-127789633-C-A c.920+8G>T splice_region ADAM12 1 83068 1.20383E-5 41534 0 1.65246E-5
10-127789642-T-C p.Ser307Gly missense+splice_region ADAM12 1 83146 1.2027E-5 41573 0 3.98785E-6
10-127789652-C-T p.Ala303Ala synonymous ADAM12 10 83186 1.20213E-4 41593 0 7.42488E-5
10-127789661-A-G p.His300His synonymous ADAM12 2 83228 2.40304E-5 41614 0 NA
10-127789671-C-T p.Arg297His missense ADAM12 8 83232 9.61169E-5 41616 0 1.23675E-4
10-127789698-T-C p.Asp288Gly missense ADAM12 7 83262 8.4072E-5 41631 0 6.25E-4
10-127789700-C-T p.Leu287Leu synonymous ADAM12 3 83268 3.60282E-5 41634 0 6.25E-4
10-127789718-G-A p.Thr278Thr splice_region+synonymous ADAM12 1 83310 1.20034E-5 41655 0 2.47215E-5
10-127789725-G-T p.Pro279Gln missense ADAM12 1 83318 1.20022E-5 41659 0 NA
10-127789726-G-T p.Pro279Thr missense ADAM12 1 83316 1.20025E-5 41658 0 NA
10-127789740-G-C p.Ser274Cys missense ADAM12 1 83342 1.19988E-5 41671 0 NA
10-127789746-T-A p.Lys272Ile missense ADAM12 1 83358 1.19964E-5 41679 0 3.97725E-6
10-127789748-G-A p.Asp271Asp synonymous ADAM12 1 83354 1.1997E-5 41677 0 NA
10-127789755-TC-AT p.Asp269Ile missense ADAM12 4 83352 4.79893E-5 41676 0 NA
10-127789756-C-T p.Asp269Asn missense ADAM12 1 83354 1.1997E-5 41677 0 9.14826E-5
10-127789765-C-A p.Val266Leu missense ADAM12 2 83356 2.39935E-5 41678 0 5.04032E-4
10-127789771-C-T p.Val264Met missense ADAM12 3 83362 3.59876E-5 41681 0 4.37501E-5
10-127789783-C-T p.Val260Met missense ADAM12 5 83356 5.99837E-5 41678 0 5.56904E-5
10-127789784-G-A p.Ile259Ile synonymous ADAM12 7 83352 8.39812E-5 41676 0 9.95152E-5
10-127789793-G-A p.Asn256Asn synonymous ADAM12 1 83358 1.19964E-5 41679 0 NA
10-127797156-A-G c.750+6T>C splice_region ADAM12 4 83192 4.80815E-5 41596 0 9.55414E-5
10-127797169-A-G p.Val248Ala missense ADAM12 1 83244 1.20129E-5 41622 0 1.64929E-5
10-127797170-C-T p.Val248Ile missense ADAM12 1 83246 1.20126E-5 41623 0 3.58141E-5
10-127797180-A-C p.Ile244Met missense ADAM12 1 83258 1.20109E-5 41629 0 6.3678E-5
10-127797191-A-G p.Leu241Leu synonymous ADAM12 1 83270 1.20091E-5 41635 0 0.00100705
10-127797208-T-C p.Glu235Gly missense ADAM12 3 83240 3.60404E-5 41620 0 4.37619E-5
10-127797212-G-C p.Leu234Val missense ADAM12 5 83226 6.00774E-5 41613 0 3.18492E-5
10-127797226-C-T p.Arg229Lys missense ADAM12 1 83192 1.20204E-5 41596 0 7.95843E-6
10-127797240-A-G c.679-7T>C splice_region ADAM12 5 83110 6.01612E-5 41555 0 8.75817E-5
10-127798348-C-T p.Arg225Gln missense ADAM12 2 83246 2.40252E-5 41623 0 6.25E-4
10-127798349-G-A p.Arg225* stop_gained ADAM12 1 83248 1.20123E-5 41624 0 7.98856E-6
10-127798361-C-T p.Val221Met missense ADAM12 1 83286 1.20068E-5 41643 0 3.98737E-5
10-127798362-G-A p.Ile220Ile synonymous ADAM12 12 83288 1.44078E-4 41644 0 1.3161E-4
10-127798392-G-C p.Leu210Leu synonymous ADAM12 1 83252 1.20117E-5 41626 0 NA
10-127798393-A-C p.Leu210Arg missense ADAM12 1 83260 1.20106E-5 41630 0 NA
10-127798395-G-A p.Thr209Thr synonymous ADAM12 1 83248 1.20123E-5 41624 0 8.23805E-6
10-127798417-G-C c.613-8C>G splice_region ADAM12 2 83146 2.40541E-5 41573 0 NA
10-127806599-C-A c.612+8G>T splice_region ADAM12 1 83192 1.20204E-5 41596 0 8.24429E-6
10-127806600-C-T c.612+7G>A splice_region ADAM12 1 83216 1.20169E-5 41608 0 3.1839E-5
10-127806619-T-A p.Thr200Thr synonymous ADAM12 1 83348 1.19979E-5 41674 0 1.19359E-5
10-127806629-G-A p.Pro197Leu missense ADAM12 2 83362 2.39917E-5 41681 0 8.23683E-6
10-127806654-C-T p.Ala189Thr missense ADAM12 4 83382 4.7972E-5 41691 0 6.37064E-5
10-127806665-G-A p.Thr185Ile missense ADAM12 2 83392 2.39831E-5 41696 0 1.64731E-5
10-127806675-G-A p.His182Tyr missense ADAM12 1 83388 1.19921E-5 41694 0 3.97636E-6
10-127806679-T-A p.Gly180Gly synonymous ADAM12 5 83390 5.99592E-5 41695 0 9.5435E-5
10-127806683-C-T p.Cys179Tyr missense ADAM12 2 83392 2.39831E-5 41696 0 NA
10-127806692-C-T p.Arg176Gln missense ADAM12 6 83386 7.19545E-5 41693 0 6.36983E-5
10-127806693-G-A p.Arg176Trp missense ADAM12 75 83382 8.99475E-4 41691 0 0.00245254
10-127806696-C-T p.Val175Ile missense ADAM12 7 83386 8.39469E-5 41693 0 6.36862E-5
10-127806700-T-G p.Lys173Asn missense ADAM12 11 83394 1.31904E-4 41697 0 1.0708E-4
10-127806710-T-C p.Lys170Arg missense ADAM12 145 83382 0.00173898 41691 1 0.00315246
10-127806712-C-T p.Ala169Ala synonymous ADAM12 2 83384 2.39854E-5 41692 0 9.94131E-5
10-127806720-A-G p.Phe167Leu missense ADAM12 2 83382 2.3986E-5 41691 0 3.97643E-6
10-127806721-G-A p.Leu166Leu synonymous ADAM12 10 83382 1.1993E-4 41691 0 8.27656E-4
10-127806730-T-A p.Arg163Ser missense ADAM12 9 83378 1.07942E-4 41689 0 0.00100705
10-127806737-G-A p.Thr161Ile missense ADAM12 1 83368 1.1995E-5 41684 0 NA
10-127806764-T-C p.Tyr152Cys missense ADAM12 2 83336 2.39992E-5 41668 0 2.49422E-5
10-127806772-A-G p.Asn149Asn synonymous ADAM12 2 83314 2.40056E-5 41657 0 3.34784E-5
10-127806785-A-G p.Ile145Thr missense ADAM12 1 83258 1.20109E-5 41629 0 4.28618E-5
10-127806790-T-C p.Gly143Gly synonymous ADAM12 1 83236 1.2014E-5 41618 0 3.18796E-5
10-127806796-G-A c.426-3C>T splice_region ADAM12 7 83198 8.41366E-5 41599 0 3.63622E-5
10-127824149-T-C c.425+4A>G splice_region ADAM12 1 83192 1.20204E-5 41596 0 3.1839E-5
10-127824167-C-T p.Thr137Thr synonymous ADAM12 1559 83214 0.0187348 41607 61 0.035919
10-127824168-G-A p.Thr137Met missense ADAM12 4 83254 4.80457E-5 41627 0 3.1841E-5
10-127824198-C-T p.Gly127Glu missense ADAM12 1 83294 1.20057E-5 41647 0 3.97738E-6
10-127824202-G-A p.Arg126Trp missense ADAM12 1 83300 1.20048E-5 41650 0 2.4768E-5
10-127824206-A-G p.His124His synonymous ADAM12 2 83304 2.40085E-5 41652 0 NA
10-127824212-A-G p.His122His synonymous ADAM12 80 83290 9.60499E-4 41645 1 0.00302678
10-127824224-G-T p.His118Gln missense ADAM12 1 83270 1.20091E-5 41635 0 NA
10-127824230-C-A c.349-1G>T splice_acceptor ADAM12 2 83266 2.40194E-5 41633 0 NA
10-127824234-A-G c.349-5T>C splice_region ADAM12 1 83258 1.20109E-5 41629 0 8.35003E-6
10-127843781-A-G c.348+6T>C splice_region ADAM12 1 83344 1.19985E-5 41672 0 3.97924E-6
10-127843783-G-A c.348+4C>T splice_region ADAM12 1 83342 1.19988E-5 41671 0 8.24022E-6
10-127843797-G-A p.Thr113Met missense+splice_region ADAM12 4 83354 4.79881E-5 41677 0 3.18573E-5
10-127843804-T-C p.Asn111Asp missense ADAM12 11 83366 1.31948E-4 41683 0 2.23029E-4
10-127843806-C-A p.Arg110Leu missense ADAM12 1 83364 1.19956E-5 41682 0 8.23873E-6
10-127843807-G-T p.Arg110Arg synonymous ADAM12 1 83368 1.1995E-5 41684 0 NA
10-127843810-C-T p.Ala109Thr missense ADAM12 3 83362 3.59876E-5 41681 0 3.18776E-5
10-127843811-G-A p.Leu108Leu synonymous ADAM12 2 83362 2.39917E-5 41681 0 1.27413E-4
10-127843828-C-T p.Gly103Ser missense ADAM12 1 83368 1.1995E-5 41684 0 3.18613E-5
10-127843829-G-A p.Asp102Asp synonymous ADAM12 6 83364 7.19735E-5 41682 0 7.41327E-5
10-127843844-G-A p.Thr97Thr synonymous ADAM12 1 83362 1.19959E-5 41681 0 2.47117E-5
10-127843851-G-A p.Thr95Met missense ADAM12 1 83374 1.19941E-5 41687 0 3.97757E-6
10-127843857-C-G p.Ser93Thr missense ADAM12 3 83368 3.5985E-5 41684 0 8.23737E-6
10-127843858-T-G p.Ser93Arg missense ADAM12 1 83368 1.1995E-5 41684 0 2.38652E-5
10-127843862-G-A p.Ala91Ala synonymous ADAM12 1 83352 1.19973E-5 41676 0 4.11909E-5
10-127843876-T-G c.261-2A>C splice_acceptor ADAM12 1 83348 1.19979E-5 41674 0 NA
10-127843878-C-T c.261-4G>A splice_region ADAM12 10 83336 1.19996E-4 41668 0 6.25E-4
10-127843879-G-A c.261-5C>T splice_region ADAM12 18 83326 2.16019E-4 41663 0 0.00125
10-127967476-T-C c.260+8A>G splice_region ADAM12 2 82910 2.41225E-5 41455 0 NA
10-127967483-C-G c.260+1G>C splice_donor ADAM12 1 82956 1.20546E-5 41478 0 NA
10-127967506-T-A p.Ile80Phe missense ADAM12 1 83006 1.20473E-5 41503 0 3.1839E-5
10-127967523-C-T p.Arg74Gln missense ADAM12 1 82996 1.20488E-5 41498 0 3.18431E-5
10-127967524-G-A p.Arg74Trp missense ADAM12 7 82986 8.43516E-5 41493 0 1.99787E-4
10-127967532-C-T p.Arg71Gln missense ADAM12 1271 82922 0.0153277 41461 17 0.0236098
10-127967533-G-T p.Arg71Arg synonymous ADAM12 1353 82886 0.0163236 41443 19 0.0156283
10-127967540-C-T p.Leu68Leu synonymous ADAM12 2 82930 2.41167E-5 41465 0 8.89949E-6
10-127967543-C-G p.Val67Val synonymous ADAM12 3 82910 3.61838E-5 41455 0 1.91046E-4
10-127967548-C-T p.Glu66Lys missense ADAM12 78 82892 9.40983E-4 41446 1 0.00111458
10-128018976-C-A c.186+5G>T splice_region ADAM12 1 82928 1.20587E-5 41464 0 NA
10-128018978-C-T c.186+3G>A splice_region ADAM12 2 82954 2.41097E-5 41477 0 2.4869E-5
10-128018983-T-C p.Lys62Glu missense+splice_region ADAM12 1 83008 1.2047E-5 41504 0 1.20543E-5
10-128018989-C-T p.Asp60Asn missense ADAM12 1 83070 1.2038E-5 41535 0 6.37349E-5
10-128018990-G-A p.Phe59Phe synonymous ADAM12 3 83070 3.61141E-5 41535 0 0.001875
10-128018992-A-G p.Phe59Leu missense ADAM12 1 83108 1.20325E-5 41554 0 4.00048E-6
10-128018994-C-A p.Ser58Ile missense ADAM12 1 83116 1.20314E-5 41558 0 3.99741E-6
10-128019001-C-T p.Val56Met missense ADAM12 1 83148 1.20267E-5 41574 0 7.42342E-5
10-128019015-TC-T p.Asp51fs frameshift ADAM12 2 83186 2.40425E-5 41593 0 NA
10-128019020-A-G p.Ser49Ser synonymous ADAM12 2 83208 2.40361E-5 41604 0 3.18634E-5
10-128019024-C-T p.Gly48Glu missense ADAM12 2 83198 2.4039E-5 41599 0 3.18532E-5
10-128019024-C-G p.Gly48Ala missense ADAM12 1 83198 1.20195E-5 41599 0 NA
10-128019025-C-G p.Gly48Arg missense ADAM12 47960 82740 0.579647 41370 14060 0.581801
10-128019025-C-A p.Gly48Trp missense ADAM12 142 83206 0.00170661 41603 0 0.00232344
10-128019027-A-G p.Val47Ala missense ADAM12 1 83204 1.20187E-5 41602 0 9.55597E-5
10-128019033-G-A p.Ala45Val missense ADAM12 1 83214 1.20172E-5 41607 0 NA
10-128019036-C-A p.Ser44Ile missense ADAM12 1 83210 1.20178E-5 41605 0 3.98153E-6
10-128019060-T-C p.Gln36Arg missense ADAM12 1 83164 1.20244E-5 41582 0 8.24212E-6
10-128019063-T-A p.Asn35Ile missense ADAM12 1 83164 1.20244E-5 41582 0 NA
10-128019074-C-T p.Val31Val synonymous ADAM12 1 83144 1.20273E-5 41572 0 NA
10-128019077-C-A p.Gly30Gly splice_region+synonymous ADAM12 1 83132 1.20291E-5 41566 0 NA
10-128019086-A-C c.89-8T>G splice_region ADAM12 1 83044 1.20418E-5 41522 0 NA
10-128076623-T-C c.88+4A>G splice_region ADAM12 1 31900 3.1348E-5 15950 0 0.00145409
10-128076629-C-G p.Arg29Pro missense+splice_region ADAM12 2 32022 6.24571E-5 16011 0 1.63827E-4
10-128076632-G-A p.Ala28Val missense ADAM12 1 32074 3.11779E-5 16037 0 NA
10-128076646-G-A p.Leu23Leu synonymous ADAM12 1 32256 3.1002E-5 16128 0 NA
10-128076666-C-A p.Ala17Ser missense ADAM12 2 32234 6.20463E-5 16117 0 1.93274E-4
10-128076681-G-A p.Arg12Cys missense ADAM12 1 32158 3.10965E-5 16079 0 0.0016129
10-128076684-C-T p.Ala11Thr missense ADAM12 2 32092 6.23208E-5 16046 0 4.19933E-4
10-128076693-CG-C p.Val8fs frameshift ADAM12 2 32034 6.24337E-5 16017 0 NA
10-128076703-G-T p.Arg4Arg synonymous ADAM12 1 31872 3.13755E-5 15936 0 1.01999E-4
10-128076894-T-C c.-180A>G 5_prime_UTR_premature_start_codon_gain ADAM12 3 25236 1.18878E-4 12618 0 7.07032E-4
10-128076910-C-A c.-196G>T 5_prime_UTR_premature_start_codon_gain ADAM12 13 23170 5.6107E-4 11585 0 NA
10-128076942-G-A c.-228C>T 5_prime_UTR_premature_start_codon_gain ADAM12 5 20846 2.39854E-4 10423 0 1.27975E-4
10-128077020-T-C c.-306A>G 5_prime_UTR_premature_start_codon_gain ADAM12 2 14258 1.40272E-4 7129 0 NA