Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-26597183-G-T c.-28G>T 5_prime_UTR_premature_start_codon_gain ABT1 1 81204 1.23147E-5 40602 0 NA
6-26597198-C-G c.-13C>G 5_prime_UTR_premature_start_codon_gain ABT1 1 81658 1.22462E-5 40829 0 4.21713E-6
6-26597199-G-T c.-12G>T 5_prime_UTR_premature_start_codon_gain ABT1 1 81674 1.22438E-5 40837 0 NA
6-26597211-A-AT p.Met1fs frameshift ABT1 14 82194 1.70329E-4 41097 0 9.55475E-5
6-26597211-A-G p.Met1? start_lost ABT1 1 82194 1.21663E-5 41097 0 3.46372E-5
6-26597212-T-C p.Met1? start_lost ABT1 2 82214 2.43268E-5 41107 0 2.30017E-5
6-26597212-T-G p.Met1? start_lost ABT1 1 82214 1.21634E-5 41107 0 NA
6-26597216-G-A p.Glu2Glu synonymous ABT1 1 82298 1.2151E-5 41149 0 1.12648E-5
6-26597222-G-A p.Glu4Glu synonymous ABT1 2 82364 2.42825E-5 41182 0 NA
6-26597224-A-T p.Glu5Val missense ABT1 1 82378 1.21392E-5 41189 0 5.04541E-4
6-26597224-A-G p.Glu5Gly missense ABT1 1 82378 1.21392E-5 41189 0 NA
6-26597231-G-A p.Glu7Glu synonymous ABT1 1 82498 1.21215E-5 41249 0 1.21349E-5
6-26597233-A-G p.Lys8Arg missense ABT1 1 82540 1.21153E-5 41270 0 NA
6-26597236-C-T p.Ala9Val missense ABT1 2 82528 2.42342E-5 41264 0 NA
6-26597238-G-T p.Ala10Ser missense ABT1 11 82560 1.33236E-4 41280 0 1.21136E-5
6-26597239-C-T p.Ala10Val missense ABT1 1 82582 1.21092E-5 41291 0 9.84368E-6
6-26597241-A-G p.Thr11Ala missense ABT1 1 82646 1.20998E-5 41323 0 NA
6-26597243-G-A p.Thr11Thr synonymous ABT1 2 82666 2.41937E-5 41333 0 8.02948E-6
6-26597255-G-C p.Pro15Pro synonymous ABT1 1 82748 1.20849E-5 41374 0 NA
6-26597267-A-T p.Thr19Thr synonymous ABT1 1 82852 1.20697E-5 41426 0 8.7892E-6
6-26597274-A-T p.Thr22Ser missense ABT1 2 82898 2.4126E-5 41449 0 3.98819E-5
6-26597277-C-A p.Leu23Ile missense ABT1 1 82874 1.20665E-5 41437 0 NA
6-26597284-C-T p.Ala25Val missense ABT1 10 82886 1.20648E-4 41443 0 2.23001E-4
6-26597291-G-C p.Glu27Asp missense ABT1 1 82920 1.20598E-5 41460 0 6.37227E-5
6-26597292-G-A p.Glu28Lys missense ABT1 2 82928 2.41173E-5 41464 0 7.97264E-6
6-26597299-A-G p.Glu30Gly missense ABT1 1 82920 1.20598E-5 41460 0 NA
6-26597301-G-A p.Glu31Lys missense ABT1 1 82928 1.20587E-5 41464 0 NA
6-26597303-A-T p.Glu31Asp missense ABT1 2 82904 2.41243E-5 41452 0 3.98476E-6
6-26597306-C-T p.Ser32Ser synonymous ABT1 1 82856 1.20691E-5 41428 0 6.37146E-5
6-26597314-C-G p.Ala35Gly missense ABT1 1 82832 1.20726E-5 41416 0 NA
6-26597317-C-T p.Ala36Val missense ABT1 1 82790 1.20788E-5 41395 0 NA
6-26597320-G-C p.Cys37Ser missense ABT1 1 82820 1.20744E-5 41410 0 3.98797E-6
6-26597326-G-T p.Ser39Ile missense ABT1 2 82746 2.41704E-5 41373 0 NA
6-26597333-A-G p.Lys41Lys synonymous ABT1 51668 81796 0.631669 40898 16489 0.644949
6-26597336-G-T p.Arg42Arg synonymous ABT1 1 82618 1.21039E-5 41309 0 NA
6-26597336-G-A p.Arg42Arg synonymous ABT1 1 82618 1.21039E-5 41309 0 1.59774E-5
6-26597344-C-T p.Pro45Leu missense ABT1 1 82510 1.21197E-5 41255 0 3.99253E-6
6-26597345-A-G p.Pro45Pro synonymous ABT1 1 82528 1.21171E-5 41264 0 8.33111E-6
6-26597356-A-G p.Tyr49Cys missense ABT1 1 82440 1.213E-5 41220 0 NA
6-26597363-C-T p.Gly51Gly synonymous ABT1 1 82428 1.21318E-5 41214 0 8.32723E-6
6-26597364-C-T p.His52Tyr missense ABT1 1 82468 1.21259E-5 41234 0 8.32612E-6
6-26597365-A-G p.His52Arg missense ABT1 6 82458 7.27643E-5 41229 0 4.1607E-5
6-26597367-A-G p.Ile53Val missense ABT1 17 82436 2.06221E-4 41218 0 4.14065E-4
6-26597381-C-T p.Phe57Phe synonymous ABT1 1 82582 1.21092E-5 41291 0 NA
6-26597383-G-A p.Arg58Gln missense ABT1 8 82562 9.68969E-5 41281 0 1.59175E-4
6-26597384-G-A p.Arg58Arg synonymous ABT1 1879 82486 0.0227796 41243 37 0.0195137
6-26597393-C-G p.His61Gln missense ABT1 1 82538 1.21156E-5 41269 0 3.98314E-6
6-26597394-G-T p.Val62Phe missense ABT1 1 82514 1.21192E-5 41257 0 NA
6-26597398-G-T p.Arg63Leu missense ABT1 2 82524 2.42354E-5 41262 0 3.18451E-5
6-26597403-C-T p.Leu65Phe missense ABT1 22 82540 2.66537E-4 41270 0 3.50207E-4
6-26597406-C-T p.Leu66Phe missense ABT1 1 82556 1.2113E-5 41278 0 3.1835E-5
6-26597408-C-T p.Leu66Leu synonymous ABT1 2 82538 2.42313E-5 41269 0 1.65585E-5
6-26597409-A-G p.Ser67Gly missense ABT1 1 82524 1.21177E-5 41262 0 3.18845E-5
6-26597411-C-A p.Ser67Arg missense ABT1 26 82502 3.15144E-4 41251 0 5.41298E-4
6-26597423-G-A p.Glu71Glu synonymous ABT1 3 82460 3.63813E-5 41230 0 1.19774E-5
6-26597424-G-A p.Val72Ile missense ABT1 2 82470 2.42512E-5 41235 0 6.36821E-5
6-26597427-G-C p.Gly73Arg missense ABT1 1 82390 1.21374E-5 41195 0 NA
6-26597432-C-A p.Arg74Arg synonymous ABT1 2 82324 2.42943E-5 41162 0 6.36699E-5
6-26597446-C-T p.Ala79Val missense ABT1 1 82036 1.21898E-5 41018 0 NA
6-26598145-G-C p.Arg82Pro missense ABT1 1 82562 1.21121E-5 41281 0 8.69853E-6
6-26598145-G-A p.Arg82Gln missense ABT1 2 82562 2.42242E-5 41281 0 1.27429E-4
6-26598156-C-T p.Arg86Cys missense ABT1 1 82750 1.20846E-5 41375 0 4.00468E-6
6-26598159-A-G p.Lys87Glu missense ABT1 21 82862 2.53433E-4 41431 0 4.4603E-4
6-26598166-A-G p.Lys89Arg missense ABT1 4 82970 4.82102E-5 41485 0 NA
6-26598170-A-G p.Ala90Ala synonymous ABT1 10 82986 1.20502E-4 41493 0 3.79496E-4
6-26598173-A-G p.Ala91Ala synonymous ABT1 5 82996 6.02439E-5 41498 0 1.3463E-4
6-26598174-G-A p.Ala92Thr missense ABT1 1 82994 1.20491E-5 41497 0 NA
6-26598175-C-G p.Ala92Gly missense ABT1 3 82988 3.61498E-5 41494 0 8.40802E-6
6-26598178-C-T p.Ala93Val missense ABT1 1 83012 1.20465E-5 41506 0 5.03525E-4
6-26598181-C-T p.Ala94Val missense ABT1 2 83008 2.40941E-5 41504 0 NA
6-26598184-G-T p.Gly95Val missense ABT1 1 83034 1.20433E-5 41517 0 1.59655E-5
6-26598185-A-G p.Gly95Gly synonymous ABT1 2 83012 2.40929E-5 41506 0 2.23229E-4
6-26598188-A-G p.Gly96Gly synonymous ABT1 35890 82226 0.43648 41113 7982 0.457064
6-26598188-A-T p.Gly96Gly synonymous ABT1 1 83040 1.20424E-5 41520 0 8.29848E-6
6-26598189-A-G p.Lys97Glu missense ABT1 1 83048 1.20412E-5 41524 0 NA
6-26598190-A-C p.Lys97Thr missense ABT1 1 83076 1.20372E-5 41538 0 3.18634E-5
6-26598191-A-G p.Lys97Lys synonymous ABT1 1 83086 1.20357E-5 41543 0 7.97855E-6
6-26598193-A-G p.Lys98Arg missense ABT1 1 83090 1.20351E-5 41545 0 8.28295E-6
6-26598196-G-A p.Arg99Gln missense ABT1 1 83088 1.20354E-5 41544 0 1.59594E-5
6-26598201-T-C p.Tyr101His missense ABT1 2 83096 2.40685E-5 41548 0 3.18634E-5
6-26598218-C-T p.Thr106Thr synonymous ABT1 1 83102 1.20334E-5 41551 0 9.55292E-5
6-26598219-G-A p.Glu107Lys missense ABT1 1 83110 1.20322E-5 41555 0 1.65426E-5
6-26598249-A-C p.Ile117Leu missense ABT1 1 83012 1.20465E-5 41506 0 NA
6-26598259-G-A p.Arg120His missense ABT1 2 82948 2.41115E-5 41474 0 3.18471E-5
6-26598264-G-T p.Ala122Ser missense ABT1 4 82886 4.82591E-5 41443 0 8.26802E-6
6-26598265-C-T p.Ala122Val missense ABT1 1 82864 1.2068E-5 41432 0 3.30753E-5
6-26598278-C-T p.His126His synonymous ABT1 1 82848 1.20703E-5 41424 0 1.65396E-5
6-26598284-G-T p.Thr128Thr synonymous ABT1 1 82700 1.20919E-5 41350 0 0.00100705
6-26598285-C-T p.Pro129Ser missense ABT1 1 82722 1.20887E-5 41361 0 8.27582E-6
6-26598286-C-G p.Pro129Arg missense ABT1 2 82756 2.41674E-5 41378 0 3.18492E-5
6-26598294-G-C p.Ala132Pro missense ABT1 1 82562 1.21121E-5 41281 0 NA
6-26598303-C-G p.Arg135Gly missense ABT1 3 82412 3.64025E-5 41206 0 NA
6-26598303-C-T p.Arg135Cys missense ABT1 1 82412 1.21342E-5 41206 0 1.66326E-5
6-26598304-G-A p.Arg135His missense ABT1 2 82376 2.42789E-5 41188 0 4.00042E-6
6-26598311-C-T p.Pro137Pro synonymous ABT1 1 82348 1.21436E-5 41174 0 NA
6-26598331-A-C p.Asn144Thr missense ABT1 1 82392 1.21371E-5 41196 0 NA
6-26598334-T-C p.Leu145Pro missense ABT1 1 82408 1.21347E-5 41204 0 NA
6-26598338-G-T p.Lys146Asn missense+splice_region ABT1 1 82448 1.21289E-5 41224 0 4.02246E-6
6-26598535-G-A p.Ala161Thr missense ABT1 1 83354 1.1997E-5 41677 0 8.24837E-6
6-26598536-C-T p.Ala161Val missense ABT1 1 83352 1.19973E-5 41676 0 NA
6-26598548-A-G p.Gln165Arg missense ABT1 4 83344 4.79939E-5 41672 0 NA
6-26598561-G-A p.Gln169Gln synonymous ABT1 2 83344 2.39969E-5 41672 0 1.64878E-5
6-26598572-C-T p.Ala173Val missense ABT1 654 83324 0.00784888 41662 13 0.0140987
6-26598578-T-C p.Val175Ala missense ABT1 1 83318 1.20022E-5 41659 0 NA
6-26598608-A-G p.Tyr185Cys missense ABT1 1 83320 1.20019E-5 41660 0 5.03525E-4
6-26598625-C-T p.Arg191Trp missense ABT1 1 83290 1.20062E-5 41645 0 1.19325E-5
6-26598629-G-A p.Gly192Glu missense ABT1 1 83286 1.20068E-5 41643 0 7.95577E-6
6-26598631-C-A p.Gln193Lys missense ABT1 2 83282 2.40148E-5 41641 0 3.18451E-5
6-26598640-C-A p.Leu196Ile missense ABT1 2 83290 2.40125E-5 41645 0 8.26132E-6
6-26598649-G-A p.Asp199Asn missense ABT1 1 83260 1.20106E-5 41630 0 1.59151E-5
6-26598664-C-T p.Arg204Cys missense ABT1 5 83236 6.00702E-5 41618 0 5.03525E-4
6-26598670-G-C p.Asp206His missense ABT1 1 83248 1.20123E-5 41624 0 8.28199E-6
6-26598677-C-G p.Ser208Cys missense ABT1 17 83202 2.04322E-4 41601 0 1.27389E-4
6-26598695-G-A p.Arg214His missense ABT1 7 83190 8.41447E-5 41595 0 1.2738E-4
6-26598705-G-T p.Glu217Asp missense ABT1 1 83182 1.20218E-5 41591 0 3.98454E-6
6-26598709-G-T p.Glu219* stop_gained ABT1 1 83166 1.20241E-5 41583 0 NA
6-26598732-A-G p.Ala226Ala synonymous ABT1 1 83072 1.20378E-5 41536 0 NA
6-26598733-C-T p.Arg227Trp missense ABT1 1 83074 1.20375E-5 41537 0 8.36596E-6
6-26598734-G-A p.Arg227Gln missense ABT1 1 83062 1.20392E-5 41531 0 NA
6-26598751-C-T p.Arg233Trp missense ABT1 1 82912 1.2061E-5 41456 0 4.00234E-6
6-26598754-G-A p.Ala234Thr missense ABT1 4 82844 4.82835E-5 41422 0 9.55353E-5
6-26598758-G-A p.Arg235His missense ABT1 1 82736 1.20866E-5 41368 0 4.00728E-6
6-26598784-C-T p.Arg244Cys missense ABT1 4 82352 4.8572E-5 41176 0 1.20937E-5
6-26598790-A-G p.Asn246Asp missense ABT1 2 82256 2.43143E-5 41128 0 NA
6-26598791-A-G p.Asn246Ser missense ABT1 1 82214 1.21634E-5 41107 0 NA
6-26598798-G-A p.Gly248Gly synonymous ABT1 5112 81888 0.0624267 40944 196 0.0867181
6-26598804-G-C p.Leu250Leu synonymous ABT1 2 81884 2.44248E-5 40942 0 NA
6-26598805-G-T p.Ala251Ser missense ABT1 2 81820 2.44439E-5 40910 0 2.43883E-5
6-26598808-A-G p.Arg252Gly missense ABT1 1 81770 1.22294E-5 40885 0 NA
6-26598822-C-T p.Ala256Ala synonymous ABT1 1 81446 1.22781E-5 40723 0 8.93416E-6
6-26598822-C-A p.Ala256Ala synonymous ABT1 1 81446 1.22781E-5 40723 0 NA
6-26598825-G-A p.Pro257Pro synonymous ABT1 1 81374 1.22889E-5 40687 0 4.96274E-5
6-26598829-C-G p.Pro259Ala missense ABT1 3 81372 3.68677E-5 40686 0 6.36943E-5
6-26598829-C-T p.Pro259Ser missense ABT1 1 81372 1.22892E-5 40686 0 9.03016E-6
6-26598831-C-A p.Pro259Pro synonymous ABT1 4 81366 4.91606E-5 40683 0 1.24951E-5
6-26598840-C-T p.Ser262Ser synonymous ABT1 6 81210 7.38825E-5 40605 0 6.36132E-4
6-26598843-G-C p.Met263Ile missense ABT1 2 81164 2.46415E-5 40582 0 4.33197E-6
6-26598847-G-A p.Gly265Arg missense ABT1 1 81072 1.23347E-5 40536 0 NA
6-26598847-G-T p.Gly265* stop_gained ABT1 1 81072 1.23347E-5 40536 0 3.18492E-5
6-26598849-A-T p.Gly265Gly synonymous ABT1 2 81024 2.4684E-5 40512 0 9.56328E-5
6-26598850-C-T p.Pro266Ser missense ABT1 1 81004 1.23451E-5 40502 0 3.1841E-5
6-26598868-T-G p.Ser272Ala missense ABT1 1 80516 1.24199E-5 40258 0 3.18492E-5
6-26598869-C-G p.Ser272Cys missense ABT1 1 80460 1.24285E-5 40230 0 NA