Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-43088900-A-G p.Leu353Ser missense A4GALT 1 81542 1.22636E-5 40771 0 NA
22-43088902-G-A p.Tyr352Tyr synonymous A4GALT 31 81628 3.79772E-4 40814 0 0.00100806
22-43088905-C-T p.Met351Ile missense A4GALT 1 81766 1.223E-5 40883 0 NA
22-43088906-A-C p.Met351Arg missense A4GALT 5 81822 6.11083E-5 40911 0 8.59299E-6
22-43088909-T-G p.Lys350Thr missense A4GALT 1 81868 1.22148E-5 40934 0 4.12896E-6
22-43088917-C-T p.Glu347Glu synonymous A4GALT 1 82122 1.2177E-5 41061 0 8.52951E-6
22-43088919-C-T p.Glu347Lys missense A4GALT 2 82180 2.43368E-5 41090 0 3.18634E-5
22-43088923-C-T p.Thr345Thr synonymous A4GALT 3 82238 3.64795E-5 41119 0 4.0819E-6
22-43088924-G-A p.Thr345Met missense A4GALT 4 82268 4.86216E-5 41134 0 1.69222E-5
22-43088927-G-A p.Thr344Met missense A4GALT 1 82336 1.21454E-5 41168 0 3.65845E-5
22-43088940-G-A p.Arg340Cys missense A4GALT 3 82502 3.63628E-5 41251 0 3.18695E-5
22-43088945-T-G p.His338Pro missense A4GALT 1 82576 1.21101E-5 41288 0 NA
22-43088957-A-G p.Leu334Pro missense A4GALT 1 82566 1.21115E-5 41283 0 NA
22-43088969-G-T p.Ser330Tyr missense A4GALT 4 82626 4.84109E-5 41313 0 NA
22-43088971-C-T p.Thr329Thr synonymous A4GALT 31143 82348 0.378188 41174 6079 0.416835
22-43088972-G-A p.Thr329Met missense A4GALT 2 82602 2.42125E-5 41301 0 5.04032E-4
22-43088974-G-A p.Ala328Ala synonymous A4GALT 1 82566 1.21115E-5 41283 0 7.9975E-6
22-43088979-C-T p.Glu327Lys missense A4GALT 2 82514 2.42383E-5 41257 0 7.99271E-6
22-43088985-G-A p.Arg325Trp missense A4GALT 2 82564 2.42236E-5 41282 0 1.66348E-5
22-43088987-G-A p.Thr324Met missense A4GALT 2 82556 2.4226E-5 41278 0 3.19433E-5
22-43089013-G-A p.His315His synonymous A4GALT 1 82500 1.21212E-5 41250 0 NA
22-43089016-G-C p.Val314Val synonymous A4GALT 1 82500 1.21212E-5 41250 0 8.31366E-6
22-43089018-C-T p.Val314Ile missense A4GALT 1 82502 1.21209E-5 41251 0 7.98199E-6
22-43089022-A-G p.Tyr312Tyr synonymous A4GALT 17 82500 2.06061E-4 41250 0 1.91168E-4
22-43089023-T-C p.Tyr312Cys missense A4GALT 1 82480 1.21242E-5 41240 0 3.99182E-6
22-43089025-G-C p.Thr311Thr synonymous A4GALT 1 82494 1.21221E-5 41247 0 NA
22-43089028-G-A p.Ala310Ala synonymous A4GALT 4 82472 4.85013E-5 41236 0 1.99544E-4
22-43089034-G-A p.Leu308Leu synonymous A4GALT 3 82466 3.63786E-5 41233 0 NA
22-43089038-A-G p.Leu307Pro missense A4GALT 3 82502 3.63628E-5 41251 0 3.32723E-5
22-43089042-G-A p.Arg306Trp missense A4GALT 4 82486 4.84931E-5 41243 0 8.31919E-6
22-43089044-G-A p.Pro305Leu missense A4GALT 36 82450 4.36628E-4 41225 0 0.00151057
22-43089054-C-T p.Glu302Lys missense A4GALT 2 82474 2.42501E-5 41237 0 5.03525E-4
22-43089055-G-C p.Pro301Pro synonymous A4GALT 49308 82066 0.600833 41033 15112 0.65709
22-43089055-G-A p.Pro301Pro synonymous A4GALT 6 82452 7.27696E-5 41226 0 8.35743E-6
22-43089055-GG-CA p.Pro301Leu missense A4GALT 1 82452 1.21283E-5 41226 0 NA
22-43089055-G-T p.Pro301Pro synonymous A4GALT 1 82452 1.21283E-5 41226 0 2.00444E-5
22-43089056-G-A p.Pro301Leu missense A4GALT 3 82446 3.63875E-5 41223 0 3.18654E-5
22-43089066-C-A p.Asp298Tyr missense A4GALT 9 82430 1.09184E-4 41215 0 5.03525E-4
22-43089069-C-T p.Glu297Lys missense A4GALT 1 82408 1.21347E-5 41204 0 NA
22-43089087-C-A p.Asp291Tyr missense A4GALT 2 82276 2.43084E-5 41138 0 2.01175E-5
22-43089096-G-A p.Pro288Ser missense A4GALT 4 82144 4.8695E-5 41072 0 9.25772E-6
22-43089100-G-A p.Pro286Pro synonymous A4GALT 1 82082 1.21829E-5 41041 0 NA
22-43089102-G-C p.Pro286Ala missense A4GALT 1 82044 1.21886E-5 41022 0 NA
22-43089114-CA-C p.Glu282fs frameshift A4GALT 1 81844 1.22184E-5 40922 0 3.18573E-5
22-43089121-C-A p.Leu279Leu synonymous A4GALT 2 81802 2.44493E-5 40901 0 NA
22-43089125-G-A p.Thr278Ile missense A4GALT 1 81792 1.22261E-5 40896 0 8.27397E-6
22-43089128-G-A p.Thr277Ile missense A4GALT 1 81724 1.22363E-5 40862 0 NA
22-43089129-T-G p.Thr277Pro missense A4GALT 1 81702 1.22396E-5 40851 0 NA
22-43089132-C-T p.Val276Ile missense A4GALT 4 81684 4.89692E-5 40842 2 1.68163E-5
22-43089133-G-A p.Gly275Gly synonymous A4GALT 1 81630 1.22504E-5 40815 0 1.2792E-5
22-43089136-G-A p.Arg274Arg synonymous A4GALT 7 81532 8.58559E-5 40766 0 0.00125
22-43089137-C-T p.Arg274His missense A4GALT 1 81486 1.2272E-5 40743 0 1.20389E-5
22-43089144-C-G p.Ala272Pro missense A4GALT 1 81034 1.23405E-5 40517 0 NA
22-43089146-C-A p.Arg271Leu missense A4GALT 1 81072 1.23347E-5 40536 0 4.47993E-6
22-43089147-G-C p.Arg271Gly missense A4GALT 1 81102 1.23302E-5 40551 0 4.4684E-6
22-43089154-G-A p.Ala268Ala synonymous A4GALT 1 80952 1.2353E-5 40476 0 NA
22-43089163-G-A p.Arg265Arg synonymous A4GALT 1 80870 1.23655E-5 40435 0 1.40186E-5
22-43089164-C-A p.Arg265Leu missense A4GALT 4 80864 4.94658E-5 40432 0 1.41945E-5
22-43089164-C-T p.Arg265His missense A4GALT 2 80864 2.47329E-5 40432 0 1.41945E-5
22-43089165-G-A p.Arg265Cys missense A4GALT 3 80932 3.70682E-5 40466 0 5.68069E-5
22-43089175-C-G p.Trp261Cys missense A4GALT 1 80950 1.23533E-5 40475 0 2.86172E-5
22-43089178-C-T p.Lys260Lys synonymous A4GALT 3 80974 3.70489E-5 40487 0 3.18613E-5
22-43089184-G-A p.Phe258Phe synonymous A4GALT 1 80948 1.23536E-5 40474 0 3.18634E-5
22-43089192-G-A p.Arg256Trp missense A4GALT 2 80884 2.47268E-5 40442 0 NA
22-43089193-C-T p.Thr255Thr synonymous A4GALT 1 80826 1.23723E-5 40413 0 2.88659E-5
22-43089199-C-T p.Leu253Leu synonymous A4GALT 3 80850 3.71058E-5 40425 0 2.87936E-5
22-43089206-G-A p.Pro251Leu missense A4GALT 7 80900 8.65266E-5 40450 0 0.00101112
22-43089208-G-T p.Gly250Gly synonymous A4GALT 2 80884 2.47268E-5 40442 0 NA
22-43089220-C-G p.Trp246Cys missense A4GALT 1 80908 1.23597E-5 40454 0 NA
22-43089223-G-A p.Ile245Ile synonymous A4GALT 3 80906 3.70801E-5 40453 0 1.32244E-5
22-43089230-C-A p.Gly243Val missense A4GALT 1 80990 1.23472E-5 40495 0 4.23707E-6
22-43089231-C-T p.Gly243Ser missense A4GALT 1 81002 1.23454E-5 40501 0 NA
22-43089236-T-C p.Tyr241Cys missense A4GALT 1 81022 1.23423E-5 40511 0 NA
22-43089244-C-T p.Val238Val synonymous A4GALT 1 81014 1.23435E-5 40507 0 NA
22-43089254-C-T p.Arg235Gln missense A4GALT 1 81228 1.2311E-5 40614 0 1.05095E-5
22-43089255-G-A p.Arg235Trp missense A4GALT 1 81204 1.23147E-5 40602 0 3.11313E-5
22-43089270-T-G p.Met230Leu missense A4GALT 2 81322 2.45936E-5 40661 0 NA
22-43089271-G-A p.Phe229Phe synonymous A4GALT 1 81342 1.22938E-5 40671 0 2.81278E-5
22-43089277-G-A p.His227His synonymous A4GALT 2 81408 2.45676E-5 40704 0 3.18613E-5
22-43089281-C-T p.Arg226Gln missense A4GALT 2 81434 2.45598E-5 40717 0 5.24016E-5
22-43089283-G-A p.Arg225Arg synonymous A4GALT 7 81416 8.59782E-5 40708 0 6.37064E-5
22-43089285-G-A p.Arg225Cys missense A4GALT 1 81444 1.22784E-5 40722 0 1.60924E-5
22-43089288-C-T p.Glu224Lys missense A4GALT 8 81542 9.81089E-5 40771 0 1.00506E-4
22-43089288-C-A p.Glu224* stop_gained A4GALT 2 81542 2.45272E-5 40771 0 6.37267E-5
22-43089289-G-A p.Phe223Phe synonymous A4GALT 729 81548 0.00893952 40774 27 0.0197565
22-43089300-A-G p.Phe220Leu missense A4GALT 1 81680 1.22429E-5 40840 0 NA
22-43089302-G-A p.Ala219Val missense A4GALT 1 81684 1.22423E-5 40842 0 8.56502E-6
22-43089306-C-T p.Gly218Ser missense A4GALT 1 81780 1.22279E-5 40890 0 NA
22-43089307-G-T p.Asn217Lys missense A4GALT 1 81822 1.22217E-5 40911 0 NA
22-43089316-G-A p.Tyr214Tyr synonymous A4GALT 1 81872 1.22142E-5 40936 0 4.00686E-6
22-43089330-T-G p.Thr210Pro missense A4GALT 2 81960 2.44021E-5 40980 0 3.60369E-5
22-43089338-A-C p.Val207Gly missense A4GALT 11 82124 1.33944E-4 41062 0 3.18532E-5
22-43089338-A-G p.Val207Ala missense A4GALT 2 82124 2.43534E-5 41062 0 NA
22-43089339-C-T p.Val207Met missense A4GALT 2 82160 2.43427E-5 41080 0 3.18532E-5
22-43089340-G-A p.Asn206Asn synonymous A4GALT 2 82210 2.43279E-5 41105 0 8.42105E-6
22-43089353-C-T p.Arg202Gln missense A4GALT 3 82456 3.6383E-5 41228 0 2.39758E-5
22-43089358-G-A p.Asn200Asn synonymous A4GALT 1 82538 1.21156E-5 41269 0 NA
22-43089366-G-A p.Leu198Phe missense A4GALT 4 82640 4.84027E-5 41320 0 0.00125
22-43089370-A-G p.Ile196Ile synonymous A4GALT 2 82686 2.41879E-5 41343 0 NA
22-43089396-C-T p.Gly188Ser missense A4GALT 2 82836 2.41441E-5 41418 0 8.35199E-6
22-43089399-C-A p.Gly187Cys missense A4GALT 1 82822 1.20741E-5 41411 0 3.98953E-6
22-43089399-C-T p.Gly187Ser missense A4GALT 2 82822 2.41482E-5 41411 0 2.50534E-5
22-43089400-G-A p.Phe186Phe synonymous A4GALT 672 82822 0.00811379 41411 4 0.00605456
22-43089405-T-A p.Lys185* stop_gained A4GALT 1 82850 1.207E-5 41425 0 NA
22-43089409-CAT-C p.Met183fs frameshift A4GALT 4 82868 4.82695E-5 41434 0 5.03525E-4
22-43089414-G-A p.Leu182Phe missense A4GALT 2 82872 2.41336E-5 41436 0 8.34585E-6
22-43089417-C-A p.Ala181Ser missense A4GALT 2 82834 2.41447E-5 41417 0 NA
22-43089433-G-A p.Ser175Ser synonymous A4GALT 9 82790 1.08709E-4 41395 0 7.18219E-5
22-43089442-G-C p.Pro172Pro synonymous A4GALT 3 82756 3.62511E-5 41378 0 6.37592E-5
22-43089444-G-A p.Pro172Ser missense A4GALT 1 82726 1.20881E-5 41363 0 NA
22-43089445-C-T p.Leu171Leu synonymous A4GALT 4 82708 4.83629E-5 41354 0 NA
22-43089462-A-G p.Trp166Arg missense A4GALT 1 82628 1.21024E-5 41314 0 NA
22-43089464-C-T p.Arg165His missense A4GALT 37 82560 4.48159E-4 41280 0 8.61354E-4
22-43089466-C-A p.Gly164Gly synonymous A4GALT 2 82564 2.42236E-5 41282 0 NA
22-43089470-T-C p.Gln163Arg missense A4GALT 490 82586 0.00593321 41293 14 0.0116405
22-43089477-C-T p.Ala161Thr missense A4GALT 1 82518 1.21186E-5 41259 0 3.18857E-5
22-43089478-C-A p.Ala160Ala synonymous A4GALT 1 82518 1.21186E-5 41259 0 NA
22-43089478-C-T p.Ala160Ala synonymous A4GALT 1 82518 1.21186E-5 41259 0 8.38828E-6
22-43089479-G-A p.Ala160Val missense A4GALT 1 82544 1.21148E-5 41272 0 3.35644E-5
22-43089480-C-T p.Ala160Thr missense A4GALT 7 82526 8.48218E-5 41263 0 8.41184E-5
22-43089489-C-CG p.Asp157fs frameshift A4GALT 1 82524 1.21177E-5 41262 0 NA
22-43089490-G-A p.Ala156Ala synonymous A4GALT 1 82542 1.2115E-5 41271 0 4.00651E-6
22-43089507-G-A p.Arg151Trp missense A4GALT 3 82552 3.63407E-5 41276 0 3.19E-5
22-43089517-C-T p.Arg147Arg synonymous A4GALT 196 82592 0.00237311 41296 2 0.00459477
22-43089518-C-T p.Arg147Gln missense A4GALT 5 82584 6.05444E-5 41292 0 4.19625E-5
22-43089519-G-A p.Arg147Trp missense A4GALT 2 82514 2.42383E-5 41257 0 3.19101E-5
22-43089523-G-A p.Asp145Asp synonymous A4GALT 1 82520 1.21183E-5 41260 0 6.25E-4
22-43089525-C-G p.Asp145His missense A4GALT 1 82542 1.2115E-5 41271 0 4.00198E-6
22-43089525-C-T p.Asp145Asn missense A4GALT 1 82542 1.2115E-5 41271 0 NA
22-43089529-C-CT p.Leu144fs frameshift A4GALT 1 82544 1.21148E-5 41272 0 3.99949E-6
22-43089529-C-T p.Pro143Pro synonymous A4GALT 1 82544 1.21148E-5 41272 0 3.18959E-5
22-43089530-G-GTTCCAGCA p.Pro143fs frameshift A4GALT 1 82564 1.21118E-5 41282 0 3.99786E-6
22-43089532-G-GTCC p.Leu142_Pro143insAsp disruptive_inframe_insertion A4GALT 1 82572 1.21106E-5 41286 0 3.99553E-6
22-43089536-A-AGGTCCAGCAGG p.Met141fs frameshift A4GALT 1 82614 1.21045E-5 41307 0 3.99211E-6
22-43089539-TG-CA p.Gln140Trp missense A4GALT 1 82660 1.20978E-5 41330 0 NA
22-43089548-G-A p.Pro137Leu missense A4GALT 3 82684 3.62827E-5 41342 0 3.18857E-5
22-43089548-G-C p.Pro137Arg missense A4GALT 1 82684 1.20942E-5 41342 0 NA
22-43089571-G-A p.Gly129Gly synonymous A4GALT 2 82732 2.41744E-5 41366 0 NA
22-43089573-C-T p.Gly129Ser missense A4GALT 1 82732 1.20872E-5 41366 0 1.66348E-5
22-43089575-A-G p.Leu128Pro missense A4GALT 1 82756 1.20837E-5 41378 0 3.98289E-6
22-43089576-G-A p.Leu128Leu synonymous A4GALT 6 82772 7.24883E-5 41386 0 3.07595E-4
22-43089582-G-A p.Arg126Trp missense A4GALT 1 82808 1.20761E-5 41404 0 3.3232E-5
22-43089583-G-A p.Pro125Pro synonymous A4GALT 5 82800 6.03865E-5 41400 0 2.15958E-4
22-43089588-G-T p.Leu124Met missense A4GALT 2 82828 2.41464E-5 41414 0 1.19436E-5
22-43089591-A-G p.Ser123Pro missense A4GALT 172 82832 0.00207649 41416 0 0.00366826
22-43089595-G-C p.Asn121Lys missense A4GALT 5 82830 6.03646E-5 41415 0 6.37877E-5
22-43089595-G-A p.Asn121Asn synonymous A4GALT 1 82828 1.20732E-5 41414 0 5.03525E-4
22-43089600-C-T p.Gly120Ser missense A4GALT 4 82838 4.8287E-5 41419 0 3.18979E-5
22-43089603-C-T p.Gly119Ser missense A4GALT 2 82854 2.41388E-5 41427 0 NA
22-43089605-G-A p.Pro118Leu missense A4GALT 4 82874 4.8266E-5 41437 0 6.37755E-5
22-43089610-C-T p.Gly116Gly synonymous A4GALT 1 82904 1.20621E-5 41452 0 8.285E-6
22-43089614-T-C p.Lys115Arg missense A4GALT 1 82938 1.20572E-5 41469 0 3.9795E-6
22-43089638-T-C p.Glu107Gly missense A4GALT 1 82958 1.20543E-5 41479 0 NA
22-43089640-G-A p.Pro106Pro synonymous A4GALT 1 82970 1.20525E-5 41485 0 8.27965E-6
22-43089652-G-C p.Ala102Ala synonymous A4GALT 18 82996 2.16878E-4 41498 0 1.92086E-4
22-43089654-C-T p.Ala102Thr missense A4GALT 2 82982 2.41016E-5 41491 0 3.97896E-6
22-43089655-G-A p.Ala101Ala synonymous A4GALT 1 82974 1.2052E-5 41487 0 3.20369E-5
22-43089658-C-G p.Ser100Ser synonymous A4GALT 636 82948 0.00766745 41474 17 0.0161128
22-43089662-TC-T p.Glu99fs frameshift A4GALT 1 82970 1.20525E-5 41485 0 NA
22-43089667-C-T p.Ser97Ser synonymous A4GALT 2 82946 2.41121E-5 41473 0 4.9687E-5
22-43089668-G-A p.Ser97Leu missense A4GALT 4 82938 4.82288E-5 41469 0 3.20883E-5
22-43089675-T-A p.Met95Leu missense A4GALT 1 82912 1.2061E-5 41456 0 NA
22-43089685-G-T p.Asn91Lys missense A4GALT 1 82840 1.20715E-5 41420 0 NA
22-43089686-T-C p.Asn91Ser missense A4GALT 1 82814 1.20753E-5 41407 0 8.28803E-6
22-43089689-G-A p.Pro90Leu missense A4GALT 1 82802 1.2077E-5 41401 0 3.98023E-6
22-43089694-G-A p.Thr88Thr synonymous A4GALT 1 82716 1.20896E-5 41358 0 NA
22-43089698-C-A p.Arg87Leu missense A4GALT 1 82636 1.21013E-5 41318 0 8.29752E-6
22-43089699-G-A p.Arg87Trp missense A4GALT 4 82630 4.84086E-5 41315 0 1.65961E-5
22-43089699-G-T p.Arg87Arg synonymous A4GALT 1 82630 1.21021E-5 41315 0 7.96381E-6
22-43089709-C-T p.Glu83Glu synonymous A4GALT 3 82398 3.64087E-5 41199 0 9.1397E-5
22-43089714-GGAA-G p.Phe81del conservative_inframe_deletion A4GALT 7 82284 8.50712E-5 41142 0 6.54836E-5
22-43089715-G-T p.Phe81Leu missense A4GALT 1 82230 1.2161E-5 41115 0 8.31615E-6
22-43089735-T-C p.Thr75Ala missense A4GALT 1 81306 1.22992E-5 40653 0 NA
22-43089739-G-A p.Gly73Gly synonymous A4GALT 1 81162 1.2321E-5 40581 0 NA
22-43089739-GC-G p.Gly73fs frameshift A4GALT 1 81162 1.2321E-5 40581 0 4.03675E-6
22-43089741-C-CG p.Gly73fs frameshift A4GALT 1 80842 1.23698E-5 40421 0 4.95781E-6
22-43089742-G-T p.His72Gln missense A4GALT 1 80924 1.23573E-5 40462 0 NA
22-43089743-T-TGGGGGGGGGGCGGG p.His72fs frameshift A4GALT 1 80866 1.23661E-5 40433 0 NA
22-43089746-G-T p.Ser71Tyr missense A4GALT 1 80886 1.23631E-5 40443 0 NA
22-43089747-A-AGGGGGGGGGGGGGGGGGCGGGGGGG p.Ser71fs frameshift A4GALT 1 80758 1.23827E-5 40379 0 NA
22-43089751-T-TGGGGGGGGGG p.Ser71fs frameshift A4GALT 1 80614 1.24048E-5 40307 0 NA
22-43089751-T-TGGGGGGGGGCCGGGGGGGGGGG p.Ser71fs frameshift A4GALT 2 80614 2.48096E-5 40307 0 NA
22-43089751-T-TGGGGGGGGGGGGGGGGGGGGGG p.Ser71fs frameshift A4GALT 1 80614 1.24048E-5 40307 0 NA
22-43089753-G-A p.Pro69Ser missense A4GALT 19 80658 2.35563E-4 40329 0 0.0010142
22-43089753-G-C p.Pro69Ala missense A4GALT 2 80666 2.47936E-5 40333 0 2.08418E-5
22-43089755-G-A p.Thr68Ile missense A4GALT 4 80546 4.96611E-5 40273 0 0.00563204
22-43089756-T-G p.Thr68Pro missense A4GALT 1 80118 1.24816E-5 40059 0 0.00659898
22-43089756-T-TGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 2 80420 2.48694E-5 40210 0 NA
22-43089756-T-TGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 2 80410 2.48725E-5 40205 0 NA
22-43089756-T-TGGGGGGGGGCGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80420 1.24347E-5 40210 0 NA
22-43089756-T-TGGGGGGGGGGGGGGGGGGGGGGGG p.Pro67_Thr68insProProProProProProProPro conservative_inframe_insertion A4GALT 8 80410 9.94901E-5 40205 0 NA
22-43089756-T-TGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80412 1.2436E-5 40206 0 NA
22-43089756-T-TGTGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80420 1.24347E-5 40210 0 NA
22-43089756-T-TGGGGGGGGGG p.Thr68fs frameshift A4GALT 2 80402 2.4875E-5 40201 0 NA
22-43089756-T-TGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 2 80422 2.48688E-5 40211 0 NA
22-43089756-T-TGGGGGGGGG p.Pro67_Thr68insProProPro conservative_inframe_insertion A4GALT 1 80418 1.2435E-5 40209 0 NA
22-43089756-T-TGGGGGGGGGGCGGGGGGGGGGGGGGGG p.Pro67_Thr68insProProProProProArgProProPro conservative_inframe_insertion A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGGGGGGGGGGGGGGGGGGGGGG p.Pro67_Thr68insProProProProProProProProPro conservative_inframe_insertion A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGCGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80420 1.24347E-5 40210 0 NA
22-43089756-T-TGGTGGGGGGGGGGGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089756-T-TGGGGGGTGTGGGGGGGGGGGGG p.Thr68fs frameshift A4GALT 1 80422 1.24344E-5 40211 0 NA
22-43089757-G-C p.Pro67Pro synonymous A4GALT 1 80670 1.23962E-5 40335 0 2.0065E-5
22-43089762-G-A p.Pro66Ser missense A4GALT 1 80686 1.23937E-5 40343 0 0.0010142
22-43089762-G-T p.Pro66Thr missense A4GALT 1 80686 1.23937E-5 40343 0 1.0593E-5
22-43089765-T-A p.Thr65Ser missense A4GALT 1 80708 1.23903E-5 40354 0 1.71739E-5
22-43089766-C-T p.Leu64Leu synonymous A4GALT 1 80778 1.23796E-5 40389 0 NA
22-43089773-G-A p.Pro62Leu missense A4GALT 1 80918 1.23582E-5 40459 0 1.15218E-5
22-43089824-T-A p.Glu45Val missense A4GALT 2 81664 2.44906E-5 40832 0 NA
22-43089832-A-G p.Val42Val synonymous A4GALT 1 81796 1.22255E-5 40898 0 4.19738E-6
22-43089833-A-G p.Val42Ala missense A4GALT 30 81820 3.66659E-4 40910 0 5.42023E-4
22-43089834-CG-C p.His41fs frameshift A4GALT 1 81772 1.22291E-5 40886 0 NA
22-43089834-C-T p.Val42Ile missense A4GALT 3 81772 3.66874E-5 40886 0 NA
22-43089845-A-G p.Ile38Thr missense A4GALT 1 81886 1.22121E-5 40943 0 NA
22-43089849-T-C p.Met37Val missense A4GALT 30846 81494 0.378506 40747 6019 0.418099
22-43089851-A-G p.Ile36Thr missense A4GALT 2 81898 2.44206E-5 40949 0 3.18939E-5
22-43089858-C-T p.Val34Ile missense A4GALT 80 81810 9.77876E-4 40905 1 0.00347879
22-43089858-C-CGAAAAACGT p.Phe33_Val34insThrPhePhe conservative_inframe_insertion A4GALT 1 81810 1.22234E-5 40905 0 1.08712E-5
22-43089865-C-T p.Thr31Thr synonymous A4GALT 27 81764 3.30219E-4 40882 0 5.10074E-4
22-43089866-G-A p.Thr31Met missense A4GALT 1 81754 1.22318E-5 40877 0 1.23079E-5
22-43089871-C-T p.Lys29Lys synonymous A4GALT 1 81708 1.22387E-5 40854 0 NA
22-43089874-G-A p.Phe28Phe synonymous A4GALT 7 81680 8.57003E-5 40840 0 3.31602E-5
22-43089879-C-T p.Gly27Ser missense A4GALT 3 81544 3.679E-5 40772 0 4.92364E-5
22-43089880-G-A p.Ile26Ile synonymous A4GALT 4 81520 4.90677E-5 40760 0 6.70946E-5
22-43089880-G-C p.Ile26Met missense A4GALT 1 81520 1.22669E-5 40760 0 NA
22-43089902-C-T p.Arg19Gln missense A4GALT 3 80690 3.71793E-5 40345 0 1.25701E-5
22-43089904-C-T p.Gln18Gln synonymous A4GALT 15 80592 1.86123E-4 40296 0 1.65239E-4
22-43089910-T-G p.Pro16Pro synonymous A4GALT 1 80292 1.24545E-5 40146 0 4.24232E-6
22-43089913-G-A p.Ala15Ala synonymous A4GALT 1 80148 1.24769E-5 40074 0 5.56297E-5
22-43089915-C-T p.Ala15Thr missense A4GALT 1 79906 1.25147E-5 39953 0 8.63901E-6
22-43089916-G-A p.Gly14Gly synonymous A4GALT 1 79832 1.25263E-5 39916 0 2.9268E-5
22-43089917-C-T p.Gly14Asp missense A4GALT 1 79856 1.25225E-5 39928 0 1.17323E-4
22-43089920-C-G p.Arg13Pro missense A4GALT 2 79596 2.51269E-5 39798 0 0.00201816
22-43089921-G-A p.Arg13Trp missense A4GALT 2 79662 2.51061E-5 39831 0 1.55826E-5
22-43089923-A-T p.Leu12His missense A4GALT 1 79522 1.25751E-5 39761 0 1.67847E-5
22-43089929-C-T p.Arg10Gln missense A4GALT 4 79416 5.03677E-5 39708 0 2.22256E-5
22-43089929-C-A p.Arg10Leu missense A4GALT 2 79416 2.51838E-5 39708 0 NA
22-43089930-G-A p.Arg10Trp missense A4GALT 9 79358 1.1341E-4 39679 0 0.0025227
22-43089934-CAGG-C p.Leu8del disruptive_inframe_deletion A4GALT 1 79174 1.26304E-5 39587 0 NA
22-43089942-C-T p.Asp6Asn missense A4GALT 12 78742 1.52396E-4 39371 0 9.55657E-5
22-43089942-C-CG p.Asp6fs frameshift A4GALT 1 78738 1.27003E-5 39369 0 2.22015E-5
22-43089944-G-C p.Pro5Arg missense A4GALT 2 78692 2.54155E-5 39346 0 NA
22-43089947-G-T p.Pro4His missense A4GALT 1 78598 1.2723E-5 39299 0 0.00353893
22-43089948-G-A p.Pro4Ser missense A4GALT 2 78540 2.54647E-5 39270 0 2.55258E-5
22-43089973-G-A c.-16C>T 5_prime_UTR_premature_start_codon_gain A4GALT 6 78146 7.67794E-5 39073 0 NA
22-43089997-G-A c.-40C>T 5_prime_UTR_premature_start_codon_gain A4GALT 1 77852 1.28449E-5 38926 0 NA
22-43091179-C-T n.593G>A splice_region A4GALT 11 16 0.6875 8 5 0.4071