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Gene: AMDHD1

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-96337130-G-A c.-47G>A 5_prime_UTR_premature_start_codon_gain AMDHD1 1 39848 2.50954E-5 19924 0 1.67937E-5
12-96337183-A-G p.Ser3Gly missense AMDHD1 25565 41914 0.609939 20957 7975 0.634619
12-96337202-T-C p.Leu9Pro missense AMDHD1 1 42862 2.33307E-5 21431 0 2.231E-4
12-96337214-A-G p.Gln13Arg missense AMDHD1 2 42488 4.70721E-5 21244 0 2.89318E-5
12-96337222-G-A p.Val16Met missense AMDHD1 6 42344 1.41697E-4 21172 0 6.37146E-5
12-96337225-C-T p.Leu17Leu synonymous AMDHD1 8727 41886 0.208351 20943 1070 0.297601
12-96337226-T-A p.Leu17Gln missense AMDHD1 1 42168 2.37147E-5 21084 0 NA
12-96337235-C-A p.Ala20Asp missense AMDHD1 1 41962 2.38311E-5 20981 0 9.74944E-6
12-96337239-C-T p.Arg21Arg synonymous AMDHD1 2 41856 4.77829E-5 20928 0 9.77326E-5
12-96337246-C-A p.Arg24Ser missense AMDHD1 1 41706 2.39774E-5 20853 0 NA
12-96337246-C-G p.Arg24Gly missense AMDHD1 1 41706 2.39774E-5 20853 0 9.72517E-6
12-96337247-G-A p.Arg24His missense AMDHD1 1 41730 2.39636E-5 20865 0 9.56389E-5
12-96337250-TCCTGGCGCGGGATGCGCTGCGCAG-T p.Arg28_Ala35del conservative_inframe_deletion AMDHD1 1 41816 2.39143E-5 20908 0 NA
12-96337252-C-T p.Leu26Leu synonymous AMDHD1 1 41840 2.39006E-5 20920 0 1.93581E-5
12-96337272-C-A p.Arg32Arg synonymous AMDHD1 1 41484 2.41057E-5 20742 0 2.0444E-5
12-96337279-G-T p.Ala35Ser missense AMDHD1 14 41444 3.37805E-4 20722 0 4.68055E-4
12-96337280-CGGTGCTGGAAGGCGCCAGCCTGGT-C p.Met1fs frameshift AMDHD1 1 41374 2.41698E-5 20687 0 NA
12-96337288-G-A p.Glu38Lys missense AMDHD1 2 41420 4.82859E-5 20710 0 NA
12-96337305-GG-CT p.ValVal43ValLeu missense AMDHD1 1 41176 2.4286E-5 20588 0 NA
12-96337305-G-C p.Val43Val synonymous AMDHD1 4 41176 9.7144E-5 20588 2 NA
12-96337306-G-T p.Val44Leu missense AMDHD1 4 41146 9.72148E-5 20573 2 NA
12-96346492-C-T c.138-3C>T splice_region AMDHD1 5 81732 6.11755E-5 40866 0 1.23635E-5
12-96346494-G-C c.138-1G>C splice_acceptor AMDHD1 1 81854 1.22169E-5 40927 0 NA
12-96346496-G-A p.Asp47Asn missense+splice_region AMDHD1 1 81920 1.2207E-5 40960 0 NA
12-96346517-G-C p.Gly54Arg missense AMDHD1 1 82376 1.21395E-5 41188 0 1.59286E-4
12-96346543-G-T p.Gln62His missense AMDHD1 5 82506 6.06017E-5 41253 0 3.18695E-4
12-96346551-G-A p.Gly65Glu missense AMDHD1 4 82524 4.84707E-5 41262 0 NA
12-96346552-A-G p.Gly65Gly synonymous AMDHD1 1 82524 1.21177E-5 41262 0 8.28734E-6
12-96346560-T-C p.Phe68Ser missense AMDHD1 2 82484 2.42471E-5 41242 0 NA
12-96346568-A-G p.Ile71Val missense AMDHD1 1 82400 1.21359E-5 41200 0 8.2861E-6
12-96346574-G-A p.Asp73Asn missense AMDHD1 6 82384 7.28297E-5 41192 0 0.0020141
12-96346577-T-C p.Cys74Arg missense AMDHD1 4 82334 4.85826E-5 41167 0 0.00100705
12-96346591-T-C p.Cys78Cys synonymous AMDHD1 1 82094 1.21812E-5 41047 0 NA
12-96346594-T-C p.Ile79Ile synonymous AMDHD1 17116 81384 0.210312 40692 2014 0.244512
12-96346604-A-G c.244+3A>G splice_region AMDHD1 1 81636 1.22495E-5 40818 0 NA
12-96348689-G-T p.Gly82Val missense+splice_region AMDHD1 1 82582 1.21092E-5 41291 0 NA
12-96348696-G-A p.Val84Val synonymous AMDHD1 5 82644 6.05005E-5 41322 0 3.9782E-6
12-96348703-C-A p.His87Asn missense AMDHD1 1 82698 1.20922E-5 41349 0 NA
12-96348711-T-G p.His89Gln missense AMDHD1 1 82722 1.20887E-5 41361 0 NA
12-96348718-T-G p.Trp92Gly missense AMDHD1 1 82728 1.20878E-5 41364 0 NA
12-96348725-G-A p.Gly94Asp missense AMDHD1 1 82718 1.20893E-5 41359 0 3.1835E-5
12-96348736-C-A p.His98Asn missense AMDHD1 1 82710 1.20904E-5 41355 0 NA
12-96348738-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain AMDHD1 1 82676 1.20954E-5 41338 0 1.98867E-5
12-96348739-G-A p.Glu99Lys missense AMDHD1 1 82680 1.20948E-5 41340 0 1.64864E-5
12-96348757-A-G c.309+4A>G splice_region AMDHD1 2 82570 2.42219E-5 41285 0 NA
12-96348757-AC-CT c.309+4_309+5delACinsCT splice_region AMDHD1 2 82570 2.42219E-5 41285 0 NA
12-96350463-T-C p.Val41Ala missense+splice_region AMDHD1 1 82882 1.20653E-5 41441 0 NA
12-96350463-TTG-T p.Leu104fs frameshift AMDHD1 1 82882 1.20653E-5 41441 0 NA
12-96350465-G-C p.Leu104Phe missense+splice_region AMDHD1 3 82882 3.6196E-5 41441 0 3.98473E-6
12-96350473-C-G p.Ala6Gly missense+splice_region AMDHD1 6 82882 7.23921E-5 41441 0 3.1841E-5
12-96350479-A-T p.Tyr109Phe missense AMDHD1 1 82918 1.20601E-5 41459 0 NA
12-96350493-C-G p.Gln114Glu missense AMDHD1 5 82908 6.03078E-5 41454 0 9.55475E-5
12-96350501-A-T p.Arg54Trp missense AMDHD1 7 82902 8.4437E-5 41451 0 4.12882E-5
12-96350504-A-G p.Arg55Gly missense AMDHD1 2 82884 2.41301E-5 41442 0 3.97912E-6
12-96350527-G-A p.Arg125His missense AMDHD1 1 82734 1.20869E-5 41367 0 3.30333E-5
12-96350532-C-T p.Arg127Cys missense AMDHD1 1 82730 1.20875E-5 41365 0 1.65145E-5
12-96350533-G-A p.Arg127His missense AMDHD1 1 82756 1.20837E-5 41378 0 1.19404E-5
12-96350538-G-A p.Ala129Thr missense AMDHD1 5 82996 6.02439E-5 41498 0 2.78425E-5
12-96350557-T-C p.Phe135Ser missense AMDHD1 1 82988 1.20499E-5 41494 0 2.5575E-4
12-96350565-T-C p.Leu75Pro missense AMDHD1 3 83036 3.61289E-5 41518 0 2.47517E-5
12-96350571-C-G p.Gln140Glu missense AMDHD1 4 83022 4.818E-5 41511 0 2.54664E-4
12-96350576-G-A p.Ala79Thr missense AMDHD1 2 83038 2.40854E-5 41519 0 NA
12-96350586-A-G p.Met145Val missense AMDHD1 19 83058 2.28756E-4 41529 0 1.56735E-4
12-96350587-T-C p.Met145Thr missense AMDHD1 1 83066 1.20386E-5 41533 0 NA
12-96350590-T-A p.Met146Lys missense AMDHD1 1 83050 1.20409E-5 41525 0 2.38652E-5
12-96350605-C-T p.Thr151Met missense AMDHD1 3 83028 3.61324E-5 41514 0 6.3674E-5
12-96350605-C-A p.Thr151Lys missense AMDHD1 1 83028 1.20441E-5 41514 0 8.24865E-6
12-96350612-G-A p.Gly91Arg missense AMDHD1 93 83070 0.00111954 41535 0 0.00114946
12-96350615-G-C p.Glu154Asp missense AMDHD1 3 83064 3.61167E-5 41532 0 6.36659E-5
12-96350626-G-T p.Gly158Val missense AMDHD1 1 83080 1.20366E-5 41540 0 7.95418E-6
12-96350637-G-C p.Asp162His missense AMDHD1 2 83000 2.40964E-5 41500 0 8.25151E-6
12-96350647-C-A p.Thr165Asn missense AMDHD1 1 82994 1.20491E-5 41497 0 0.00100705
12-96350648-C-T p.Arg103* stop_gained AMDHD1 1 82972 1.20523E-5 41486 0 6.36943E-5
12-96350654-C-T p.Gln105* stop_gained AMDHD1 3 82996 3.61463E-5 41498 0 NA
12-96350654-C-G p.Gln105Glu missense AMDHD1 2 82996 2.40975E-5 41498 0 3.58009E-5
12-96350666-C-T p.Arg109Cys missense AMDHD1 15 82892 1.80958E-4 41446 0 1.07379E-4
12-96350675-G-A p.Glu174Glu synonymous AMDHD1 1 82848 1.20703E-5 41424 0 NA
12-96350679-G-A p.Ala176Thr missense AMDHD1 1 82746 1.20852E-5 41373 0 3.9807E-6
12-96350683-G-A p.Arg177Gln missense AMDHD1 1 82710 1.20904E-5 41355 0 NA
12-96350688-G-A p.Glu179Lys missense AMDHD1 1 82638 1.2101E-5 41319 0 1.19386E-5
12-96350690-G-A p.Glu179Glu synonymous AMDHD1 2 82576 2.42201E-5 41288 0 0.00187735
12-96350691-C-T p.Leu180Leu synonymous AMDHD1 1 82598 1.21068E-5 41299 0 3.1837E-5
12-96350695-A-G p.Asp181Gly missense AMDHD1 1 82598 1.21068E-5 41299 0 3.1839E-5
12-96350696-C-G p.Asp181Glu missense AMDHD1 10 82592 1.21077E-4 41296 0 6.25782E-4
12-96350699-C-A p.Ile182Ile synonymous AMDHD1 1 82516 1.21189E-5 41258 0 8.28665E-6
12-96350700-G-A p.Gly183Ser missense AMDHD1 1 82476 1.21247E-5 41238 0 2.48587E-5
12-96350708-G-A p.Ser185Ser synonymous AMDHD1 1 82280 1.21536E-5 41140 0 1.65986E-5
12-96350715-T-C p.Tyr188His missense AMDHD1 2 82166 2.4341E-5 41083 0 8.31089E-6
12-96350727-CAT-C p.His192fs frameshift AMDHD1 1 81800 1.22249E-5 40900 0 NA
12-96350739-A-C p.Lys196Gln missense+splice_region AMDHD1 2 81354 2.45839E-5 40677 0 NA
12-96354175-G-C c.588-1G>C splice_acceptor AMDHD1 2 83118 2.40622E-5 41559 0 3.18431E-5
12-96354213-A-G p.Asn209Asp missense AMDHD1 2 83310 2.40067E-5 41655 0 NA
12-96354232-T-G p.Leu215Arg missense AMDHD1 2 83334 2.39998E-5 41667 0 2.47443E-5
12-96354236-G-T p.Lys216Asn missense AMDHD1 432 83340 0.00518359 41670 5 0.010538
12-96354247-G-A p.Arg220Lys missense AMDHD1 2 83348 2.39958E-5 41674 0 8.2428E-6
12-96354251-TG-T p.Glu223fs frameshift AMDHD1 5 83354 5.99851E-5 41677 0 3.18134E-5
12-96354256-A-G p.Glu223Gly missense AMDHD1 5 83356 5.99837E-5 41678 0 9.54365E-5
12-96354263-C-T p.His225His synonymous AMDHD1 2 83354 2.3994E-5 41677 0 3.97659E-6
12-96354264-G-A p.Val226Met missense AMDHD1 17 83354 2.03949E-4 41677 0 5.03525E-4
12-96354269-C-A p.Asp227Glu missense AMDHD1 1 83356 1.19967E-5 41678 0 5.1694E-5
12-96354274-T-C p.Ile229Thr missense AMDHD1 1 83348 1.19979E-5 41674 0 2.47158E-5
12-96354278-C-T p.Asp230Asp synonymous AMDHD1 1 83346 1.19982E-5 41673 0 3.18471E-5
12-96354279-G-A p.Val231Ile missense AMDHD1 4 83352 4.79893E-5 41676 0 1.91083E-4
12-96354287-T-C p.Cys233Cys synonymous AMDHD1 1 83358 1.19964E-5 41679 0 6.36943E-5
12-96354294-G-T p.Gly236Cys missense AMDHD1 1 83362 1.19959E-5 41681 0 7.9526E-6
12-96354298-T-C p.Val237Ala missense AMDHD1 1 83362 1.19959E-5 41681 0 NA
12-96354309-G-A p.Asp241Asn missense AMDHD1 1 83354 1.1997E-5 41677 0 1.64734E-5
12-96354317-C-A p.Thr243Thr synonymous AMDHD1 138 83352 0.00165563 41676 1 0.00302115
12-96354322-G-A p.Arg245Lys missense AMDHD1 1 83350 1.19976E-5 41675 0 NA
12-96354333-C-T p.Arg249Cys missense AMDHD1 27 83354 3.2392E-4 41677 0 0.00167202
12-96354334-G-A p.Arg249His missense AMDHD1 22 83354 2.63935E-4 41677 0 5.03525E-4
12-96354336-G-A p.Gly250Arg missense AMDHD1 1 83354 1.1997E-5 41677 0 NA
12-96354349-G-C p.Gly254Ala missense AMDHD1 1 83350 1.19976E-5 41675 0 NA
12-96354350-G-A p.Gly254Gly synonymous AMDHD1 1 83350 1.19976E-5 41675 0 NA
12-96354386-G-A p.Pro266Pro synonymous AMDHD1 11 83296 1.32059E-4 41648 0 9.89821E-5
12-96354386-G-T p.Pro266Pro synonymous AMDHD1 1 83296 1.20054E-5 41648 0 3.97864E-6
12-96354393-G-T p.Ala269Ser missense AMDHD1 2 83282 2.40148E-5 41641 0 NA
12-96354394-C-T p.Ala269Val missense AMDHD1 1 83278 1.2008E-5 41639 0 NA
12-96354399-G-C p.Glu271Gln missense+splice_region AMDHD1 1 83266 1.20097E-5 41633 0 NA
12-96354401-G-A p.Glu271Glu splice_region+synonymous AMDHD1 73 83254 8.76835E-4 41627 0 0.0010195
12-96354403-T-C c.813+2T>C splice_donor AMDHD1 2 83252 2.40234E-5 41626 0 4.00766E-6
12-96354405-T-A c.813+4T>A splice_region AMDHD1 2 83236 2.40281E-5 41618 0 8.01822E-6
12-96356130-T-C c.814-3T>C splice_region AMDHD1 1 82578 1.21098E-5 41289 0 2.48764E-5
12-96356137-G-A p.Gly273Glu missense AMDHD1 6 82632 7.26111E-5 41316 0 1.19904E-5
12-96356149-G-A p.Gly277Glu missense AMDHD1 1 82644 1.21001E-5 41322 0 NA
12-96356152-C-T p.Ala278Val missense AMDHD1 9 82608 1.08948E-4 41304 0 7.44663E-5
12-96356153-G-A p.Ala278Ala synonymous AMDHD1 1 82594 1.21074E-5 41297 0 1.65453E-5
12-96356155-A-G p.Gln279Arg missense AMDHD1 1 82656 1.20983E-5 41328 0 3.99004E-6
12-96356164-G-C p.Ser282Thr missense AMDHD1 1 82702 1.20916E-5 41351 0 NA
12-96356168-C-T p.His283His synonymous AMDHD1 2 82692 2.41861E-5 41346 0 4.78492E-5
12-96356178-G-A p.Val287Met missense AMDHD1 1 82738 1.20863E-5 41369 0 8.26132E-6
12-96356191-G-T p.Gly291Val missense AMDHD1 10 82732 1.20872E-4 41366 0 2.86569E-4
12-96356195-C-T p.Ile292Ile synonymous AMDHD1 1 82720 1.2089E-5 41360 0 3.18471E-5
12-96356196-G-A p.Val293Ile missense AMDHD1 3 82742 3.62573E-5 41371 0 2.47889E-5
12-96356203-T-G p.Met295Arg missense AMDHD1 1 82740 1.20861E-5 41370 0 1.19498E-5
12-96356205-G-A p.Ala296Thr missense AMDHD1 44 82752 5.31709E-4 41376 0 3.54664E-4
12-96356210-G-A p.Thr297Thr synonymous AMDHD1 2 82748 2.41698E-5 41374 0 8.26829E-6
12-96356237-C-T p.Pro306Pro synonymous AMDHD1 3 82794 3.62345E-5 41397 0 8.79247E-5
12-96356245-C-G p.Ala309Gly missense AMDHD1 1 82794 1.20782E-5 41397 0 8.29972E-6
12-96356265-C-T c.938+8C>T splice_region AMDHD1 2 82636 2.42025E-5 41318 0 5.52608E-5
12-96359459-C-T c.939-5C>T splice_region AMDHD1 1 82734 1.20869E-5 41367 0 2.47815E-5
12-96359465-C-T p.Leu314Leu splice_region+synonymous AMDHD1 1 82792 1.20785E-5 41396 0 NA
12-96359471-CA-C p.Gln316fs frameshift AMDHD1 1 82836 1.2072E-5 41418 0 NA
12-96359477-C-G p.Arg318Gly missense AMDHD1 3 82852 3.62091E-5 41426 0 1.64897E-5
12-96359491-G-A p.Met322Ile missense AMDHD1 1 82958 1.20543E-5 41479 0 NA
12-96359493-T-G p.Leu323* stop_gained AMDHD1 1 82978 1.20514E-5 41489 0 NA
12-96359497-T-C p.Asp324Asp synonymous AMDHD1 1 82988 1.20499E-5 41494 0 NA
12-96359501-G-A p.Gly326Arg missense AMDHD1 4 82996 4.81951E-5 41498 0 6.25E-4
12-96359504-G-A p.Val327Ile missense AMDHD1 16 83014 1.92739E-4 41507 0 1.4354E-4
12-96359505-T-G p.Val327Gly missense AMDHD1 2 83016 2.40917E-5 41508 0 NA
12-96359506-A-G p.Val327Val synonymous AMDHD1 1 83012 1.20465E-5 41506 0 NA
12-96359507-A-G p.Ile328Val missense AMDHD1 1 83008 1.2047E-5 41504 0 NA
12-96359560-A-C c.1032+3A>C splice_region AMDHD1 1 82496 1.21218E-5 41248 0 NA
12-96359564-A-AT c.1032+7_1032+8insT splice_region AMDHD1 1 82458 1.21274E-5 41229 0 NA
12-96359564-A-C c.1032+7A>C splice_region AMDHD1 1 82458 1.21274E-5 41229 0 3.18613E-5
12-96360123-T-C c.1033-3T>C splice_region AMDHD1 4 83106 4.81313E-5 41553 0 2.47329E-5
12-96360129-A-G p.Met346Val missense AMDHD1 1 83138 1.20282E-5 41569 0 3.1839E-5
12-96360132-G-A p.Val347Ile missense AMDHD1 119 83156 0.00143105 41578 0 0.005
12-96360132-G-T p.Val347Phe missense AMDHD1 1 83162 1.20247E-5 41581 0 NA
12-96360135-A-G p.Met348Val missense AMDHD1 5 83178 6.0112E-5 41589 0 6.59294E-5
12-96360148-G-A p.Cys352Tyr missense AMDHD1 1 83230 1.20149E-5 41615 0 NA
12-96360155-C-G p.Asn354Lys missense AMDHD1 103 83238 0.00123742 41619 0 0.00257962
12-96360156-A-C p.Met355Leu missense AMDHD1 2 83246 2.40252E-5 41623 0 3.18431E-5
12-96360163-T-G p.Met357Arg missense AMDHD1 2 83248 2.40246E-5 41624 0 NA
12-96360172-C-A p.Pro360His missense AMDHD1 659 83218 0.00791896 41609 13 0.0146778
12-96360185-C-T p.Ala364Ala synonymous AMDHD1 1 83228 1.20152E-5 41614 0 8.23683E-6
12-96360186-G-A p.Ala365Thr missense AMDHD1 1 83236 1.2014E-5 41618 0 6.3674E-5
12-96360193-C-T p.Thr367Ile missense AMDHD1 1 83248 1.20123E-5 41624 0 8.23683E-6
12-96360209-T-C p.Tyr372Tyr synonymous AMDHD1 3 83260 3.60317E-5 41630 0 1.19309E-5
12-96360221-GTC-G p.His380fs frameshift AMDHD1 1 83288 1.20065E-5 41644 0 1.64737E-5
12-96360223-C-T p.Ser377Phe missense AMDHD1 1 83286 1.20068E-5 41643 0 3.97681E-6
12-96360233-C-T p.His380His synonymous AMDHD1 3 83294 3.6017E-5 41647 0 8.23669E-6
12-96360239-G-A p.Ser382Ser synonymous AMDHD1 2 83296 2.40108E-5 41648 0 9.55049E-5
12-96360241-T-C p.Leu383Ser missense AMDHD1 1 83294 1.20057E-5 41647 0 NA
12-96360242-G-A p.Leu383Leu synonymous AMDHD1 36 83292 4.32214E-4 41646 0 4.13907E-4
12-96360248-T-C p.Val385Val synonymous AMDHD1 4 83286 4.80273E-5 41643 0 3.1837E-5
12-96360253-A-T p.Lys387Ile missense AMDHD1 4 83288 4.80261E-5 41644 0 NA
12-96360268-T-C p.Ile392Thr missense AMDHD1 1 83290 1.20062E-5 41645 0 NA
12-96360277-A-G p.Asn395Ser missense AMDHD1 5 83294 6.00283E-5 41647 0 3.97681E-5
12-96360285-C-T p.Arg398* stop_gained AMDHD1 12 83292 1.44071E-4 41646 0 8.24008E-5
12-96360286-G-A p.Arg398Gln missense+splice_region AMDHD1 20 83290 2.40125E-4 41645 0 5.03525E-4
12-96361529-TC-T c.1194-4delC splice_region AMDHD1 6 81000 7.40741E-5 40500 0 2.73286E-4
12-96361529-T-TC c.1194-5_1194-4insC splice_region AMDHD1 1 81078 1.23338E-5 40539 0 NA
12-96361530-C-T c.1194-4C>T splice_region AMDHD1 150 72154 0.00207889 36077 0 0.0406348
12-96361530-C-A c.1194-4C>A splice_region AMDHD1 1 79242 1.26196E-5 39621 0 NA
12-96361531-TAGATGGGAGCA-T p.Trp399_His401del splice_acceptor AMDHD1 6 80210 7.48036E-5 40105 0 0.0022315
12-96361532-A-T c.1194-2A>T splice_acceptor AMDHD1 2 79766 2.50733E-5 39883 0 0.0025974
12-96361532-A-G c.1194-2A>G splice_acceptor AMDHD1 7 79828 8.76885E-5 39914 0 9.80777E-5
12-96361535-TGGGAGCA-T p.Trp399fs frameshift AMDHD1 1 80696 1.23922E-5 40348 0 5.45554E-4
12-96361553-C-T p.Gln405* stop_gained AMDHD1 1 81548 1.22627E-5 40774 0 NA
12-96361559-G-A p.Gly407Arg missense AMDHD1 3 81470 3.68234E-5 40735 0 3.47657E-5
12-96361562-G-C p.Gly408Arg missense AMDHD1 1 81802 1.22246E-5 40901 0 NA
12-96361563-G-A p.Gly408Asp missense AMDHD1 1 81746 1.2233E-5 40873 0 1.29153E-5
12-96361590-T-C p.Ile417Thr missense AMDHD1 1 81962 1.22008E-5 40981 0 2.57865E-4
12-96361604-C-T p.Leu422Phe missense AMDHD1 1 81624 1.22513E-5 40812 0 NA
12-96361618-A-G p.Thr426Thr synonymous AMDHD1 1 81652 1.22471E-5 40826 0 6.40902E-5



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