Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-109441763-G-A p.Tyr329Tyr synonymous AMMECR1 2 82070 2.43694E-5 41035 1 NA
X-109441765-A-T p.Tyr329Asn missense AMMECR1 1 82064 1.21856E-5 41032 0 NA
X-109441770-G-A p.Pro327Leu missense AMMECR1 1 82226 1.21616E-5 41113 0 3.68732E-5
X-109441776-G-A p.Pro325Leu missense AMMECR1 1 82338 1.21451E-5 41169 0 4.58926E-5
X-109441790-A-G p.Asn320Asn synonymous AMMECR1 230 82482 0.00278849 41241 54 0.00306692
X-109441793-T-C p.Gln319Gln synonymous AMMECR1 4 82520 4.84731E-5 41260 1 0.0025
X-109441798-A-C p.Phe318Val missense AMMECR1 1 82542 1.2115E-5 41271 0 NA
X-109441818-G-A p.Ala311Val missense AMMECR1 1 82376 1.21395E-5 41188 0 4.56142E-5
X-109441819-C-T p.Ala311Thr missense AMMECR1 13 82354 1.57855E-4 41177 2 1.3713E-4
X-109441828-C-G p.Glu308Gln missense AMMECR1 2 82298 2.43019E-5 41149 1 4.57917E-5
X-109441829-A-G p.Ala307Ala synonymous AMMECR1 2 82298 2.43019E-5 41149 1 NA
X-109441831-C-G p.Ala307Pro missense AMMECR1 2 82294 2.43031E-5 41147 0 3.52593E-5
X-109441832-A-G p.Tyr306Tyr synonymous AMMECR1 1 82272 1.21548E-5 41136 0 NA
X-109441847-C-G p.Lys301Asn missense AMMECR1 1 81938 1.22043E-5 40969 0 1.1136E-5
X-109441857-C-T p.Arg298His missense AMMECR1 1 81492 1.22711E-5 40746 0 4.58295E-5
X-109441858-G-A p.Arg298Cys missense AMMECR1 4 81364 4.91618E-5 40682 2 NA
X-109441860-T-A p.Tyr297Phe missense+splice_region AMMECR1 1 81196 1.23159E-5 40598 0 NA
X-109444184-G-A p.Thr295Thr splice_region+synonymous AMMECR1 2 81428 2.45616E-5 40714 1 NA
X-109444190-T-A p.Lys293Asn missense AMMECR1 1 81566 1.226E-5 40783 0 NA
X-109444195-T-C p.Ile292Val missense AMMECR1 1 81640 1.22489E-5 40820 0 NA
X-109444206-A-C p.Phe288Cys missense AMMECR1 1 81700 1.22399E-5 40850 0 NA
X-109444207-A-C p.Phe288Val missense AMMECR1 1 81736 1.22345E-5 40868 0 1.14666E-5
X-109444208-T-TG p.Glu287fs frameshift AMMECR1 1 81736 1.22345E-5 40868 0 NA
X-109444213-T-G p.Asn286His missense AMMECR1 1 81682 1.22426E-5 40841 0 NA
X-109444220-C-T p.Pro283Pro synonymous AMMECR1 3 81714 3.67134E-5 40857 1 6.8701E-5
X-109444221-G-A p.Pro283Leu missense AMMECR1 3 81694 3.67224E-5 40847 1 NA
X-109444246-A-G p.Leu275Leu synonymous AMMECR1 3 81420 3.6846E-5 40710 1 6.87758E-4
X-109444247-T-C p.Leu274Leu synonymous AMMECR1 4 81402 4.91388E-5 40701 1 2.7391E-4
X-109445693-C-T p.Pro257Pro synonymous AMMECR1 1 81394 1.22859E-5 40697 0 4.6699E-5
X-109445708-G-A p.Thr252Thr synonymous AMMECR1 3 81608 3.67611E-5 40804 1 NA
X-109445712-C-T p.Arg251His missense AMMECR1 2 81570 2.45188E-5 40785 1 5.49185E-6
X-109445714-T-C p.Lys250Lys synonymous AMMECR1 80 81678 9.79456E-4 40839 18 0.00145799
X-109459751-A-G p.Trp232Arg missense AMMECR1 2 82192 2.43333E-5 41096 1 NA
X-109459757-A-T p.Leu230Met missense AMMECR1 5 82436 6.06531E-5 41218 2 3.43497E-5
X-109459811-G-A p.Arg212Trp missense AMMECR1 6 82764 7.24953E-5 41382 1 5.70639E-5
X-109459832-T-C p.Met205Val missense AMMECR1 5 82572 6.05532E-5 41286 0 1.0557E-4
X-109459857-G-A p.Ala196Ala synonymous AMMECR1 1 81590 1.22564E-5 40795 0 1.15927E-5
X-109462844-TA-T n.285-4delT splice_region AMMECR1 2 23936 8.35562E-5 11968 1 4.7895E-5
X-109507714-C-T c.584+3G>A splice_region AMMECR1 1 78744 1.26994E-5 39372 0 9.44688E-5
X-109507725-T-C p.Thr192Thr synonymous AMMECR1 1 80084 1.24869E-5 40042 0 NA
X-109507755-C-T p.Met182Ile missense AMMECR1 1 81766 1.223E-5 40883 0 NA
X-109507770-A-G p.Gly177Gly synonymous AMMECR1 1 81926 1.22061E-5 40963 0 NA
X-109560829-G-C p.Pro157Pro splice_region+synonymous AMMECR1 2 79462 2.51693E-5 39731 0 3.26947E-5
X-109560898-G-A p.Cys134Cys synonymous AMMECR1 6 81410 7.3701E-5 40705 3 5.70552E-6
X-109560931-C-A p.Lys123Asn missense AMMECR1 1 81454 1.22769E-5 40727 0 9.51258E-5
X-109560944-G-C p.Pro119Arg missense AMMECR1 9 81390 1.10579E-4 40695 1 1.35307E-4
X-109560961-G-A c.-31C>T 5_prime_UTR_premature_start_codon_gain AMMECR1 2 81362 2.45815E-5 40681 1 6.6028E-6
X-109560963-C-T p.Ala113Thr missense AMMECR1 1 81302 1.22998E-5 40651 0 8.22774E-5
X-109560991-G-A p.Ala103Ala synonymous AMMECR1 1 80778 1.23796E-5 40389 0 7.69876E-6
X-109560993-C-A p.Ala103Ser missense AMMECR1 3 80552 3.7243E-5 40276 1 NA
X-109560995-G-A p.Ala102Val missense AMMECR1 1 80486 1.24245E-5 40243 0 2.35101E-5
X-109560997-G-A c.-67C>T 5_prime_UTR_premature_start_codon_gain AMMECR1 2 80418 2.48701E-5 40209 1 NA
X-109561004-G-A p.Thr99Ile missense AMMECR1 3 80340 3.73413E-5 40170 1 4.73485E-5
X-109561007-G-C p.Ser98Cys missense AMMECR1 2 80136 2.49576E-5 40068 0 9.49577E-5
X-109561012-T-G p.Leu96Leu synonymous AMMECR1 3 79966 3.75159E-5 39983 1 6.23869E-5
X-109561017-T-A p.Thr95Ser missense AMMECR1 11 79696 1.38024E-4 39848 2 3.96537E-4
X-109561031-C-T p.Ser90Asn missense AMMECR1 3 79172 3.78922E-5 39586 1 9.12492E-6
X-109561034-G-C p.Pro89Arg missense AMMECR1 1 79082 1.26451E-5 39541 0 9.20429E-6
X-109561041-G-A p.Pro87Ser missense AMMECR1 1 78692 1.27078E-5 39346 0 NA
X-109561051-G-A c.-121C>T 5_prime_UTR_premature_start_codon_gain AMMECR1 1 77902 1.28366E-5 38951 0 NA
X-109561057-CCCG-C p.Gly81del disruptive_inframe_deletion AMMECR1 155 75664 0.00204853 37832 0 0.0546574
X-109561057-C-CCCGCCG p.Gly80_Gly81dup disruptive_inframe_insertion AMMECR1 8 77516 1.03204E-4 38758 2 3.03767E-4
X-109561057-C-CCCG p.Gly81dup disruptive_inframe_insertion AMMECR1 7 77516 9.03039E-5 38758 1 9.83623E-5
X-109561069-G-A p.Gly77Gly synonymous AMMECR1 8 78042 1.02509E-4 39021 1 1.08454E-4
X-109561080-G-C p.Gln74Glu missense AMMECR1 5 78484 6.37073E-5 39242 2 5.88794E-5
X-109561081-G-T c.-147-4C>A splice_region AMMECR1 9 78444 1.14732E-4 39222 2 2.80938E-4
X-109561081-G-C c.-147-4C>G splice_region AMMECR1 4 78444 5.09918E-5 39222 1 1.6517E-5
X-109561082-G-T p.Pro73His missense AMMECR1 5 78444 6.37397E-5 39222 1 2.05367E-4
X-109561082-G-C p.Pro73Arg missense AMMECR1 2 78446 2.54952E-5 39223 1 4.79189E-4
X-109561083-G-T p.Pro73Thr missense AMMECR1 2 78404 2.55089E-5 39202 0 NA
X-109561098-A-T p.Cys68Ser missense AMMECR1 4 77840 5.13875E-5 38920 1 NA
X-109561102-G-A p.Ser66Ser synonymous AMMECR1 2 77516 2.58011E-5 38758 1 7.89085E-6
X-109561113-C-T p.Gly63Ser missense AMMECR1 2 77510 2.58031E-5 38755 0 7.01754E-4
X-109561136-C-A p.Gly55Val missense AMMECR1 1 76566 1.30606E-5 38283 0 NA
X-109561138-G-A p.Asn54Asn synonymous AMMECR1 1 76406 1.3088E-5 38203 0 NA
X-109561156-G-A p.Gly48Gly synonymous AMMECR1 1 75062 1.33223E-5 37531 0 1.28016E-4
X-109561160-C-A p.Gly47Val missense AMMECR1 2 75268 2.65717E-5 37634 1 NA
X-109561181-C-T p.Arg40Gln missense AMMECR1 3 73646 4.07354E-5 36823 1 NA
X-109561182-G-C p.Arg40Gly missense AMMECR1 1 73600 1.3587E-5 36800 0 6.63253E-6
X-109561186-C-G p.Gln38His missense AMMECR1 2 73334 2.72725E-5 36667 1 7.16538E-4
X-109561206-GGGA-G p.Ser31del conservative_inframe_deletion AMMECR1 6 71270 8.41869E-5 35635 0 0.0020406
X-109561213-G-A p.Ser29Ser synonymous AMMECR1 3 70702 4.24316E-5 35351 1 3.84108E-5
X-109561217-G-A p.Ser28Phe missense AMMECR1 1 70150 1.42552E-5 35075 0 1.26686E-5
X-109561222-G-C p.Gly26Gly synonymous AMMECR1 1 69028 1.44869E-5 34514 0 NA
X-109561227-C-T p.Gly25Ser missense AMMECR1 2 69034 2.89712E-5 34517 1 2.15787E-5
X-109561230-C-T p.Gly24Ser missense AMMECR1 1 68862 1.45218E-5 34431 0 NA
X-109561239-A-T p.Ser21Thr missense AMMECR1 2 68288 2.92877E-5 34144 1 NA
X-109561247-G-C p.Pro18Arg missense AMMECR1 5 67948 7.35857E-5 33974 1 1.20775E-4
X-109561247-G-T p.Pro18His missense AMMECR1 4 67948 5.88685E-5 33974 1 0.00207469
X-109561277-A-C p.Val8Gly missense AMMECR1 1 62182 1.60818E-5 31091 0 0.081295
X-109561279-C-T p.Gly7Gly synonymous AMMECR1 3 63652 4.71313E-5 31826 1 4.88854E-5
X-109561281-C-A p.Gly7Trp missense AMMECR1 1 63014 1.58695E-5 31507 0 NA
X-109561288-A-G p.Gly4Gly synonymous AMMECR1 1 61558 1.62448E-5 30779 0 2.38624E-5
X-109561304-G-C c.-5C>G 5_prime_UTR_premature_start_codon_gain AMMECR1 1 59844 1.67101E-5 29922 0 NA
X-109561355-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain AMMECR1 1 39608 2.52474E-5 19804 0 NA