Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-128622681-T-C p.Asn307Ser missense AMMECR1L 1 83276 1.20083E-5 41638 0 1.99473E-5
2-128622694-G-T p.Pro303Thr missense AMMECR1L 1 83300 1.20048E-5 41650 0 1.64891E-5
2-128622709-C-T p.Gly298Ser missense AMMECR1L 1 83296 1.20054E-5 41648 0 8.24103E-6
2-128622710-G-A p.Asn297Asn synonymous AMMECR1L 31 83304 3.72131E-4 41652 0 5.04032E-4
2-128622717-A-G p.Phe295Ser missense AMMECR1L 2 83304 2.40085E-5 41652 0 1.51671E-4
2-128622717-A-C p.Phe295Cys missense AMMECR1L 7 83304 8.40296E-5 41652 0 2.47207E-5
2-128622721-A-G p.Cys294Arg missense AMMECR1L 9 83310 1.0803E-4 41655 0 1.87688E-4
2-128622723-T-C p.His293Arg missense AMMECR1L 1 83298 1.20051E-5 41649 0 NA
2-128622728-T-C p.Arg291Arg synonymous AMMECR1L 1 83298 1.20051E-5 41649 0 NA
2-128622748-C-T p.Ala285Thr missense AMMECR1L 2 83124 2.40604E-5 41562 0 3.18674E-5
2-128622751-A-G p.Tyr284His missense AMMECR1L 1 83106 1.20328E-5 41553 0 NA
2-128622757-T-C p.Ile282Val missense AMMECR1L 3 83052 3.61219E-5 41526 0 6.37349E-5
2-128622764-C-T p.Lys279Lys synonymous AMMECR1L 1 82950 1.20555E-5 41475 0 NA
2-128622774-C-T p.Arg276Gln missense AMMECR1L 1 82786 1.20793E-5 41393 0 1.65221E-5
2-128624468-G-A c.821+6C>T splice_region AMMECR1L 2 83240 2.40269E-5 41620 0 9.55171E-5
2-128624470-T-C c.821+4A>G splice_region AMMECR1L 1 83262 1.20103E-5 41631 0 3.97798E-6
2-128624479-G-A p.Leu272Leu synonymous AMMECR1L 1 83316 1.20025E-5 41658 0 NA
2-128624488-C-T p.Thr269Thr synonymous AMMECR1L 4 83338 4.79973E-5 41669 0 2.47881E-5
2-128624514-G-A p.Pro261Ser missense AMMECR1L 1 83368 1.1995E-5 41684 0 NA
2-128624515-A-G p.Ala260Ala synonymous AMMECR1L 1 83362 1.19959E-5 41681 0 9.55292E-5
2-128624527-A-C p.Gly256Gly synonymous AMMECR1L 1 83368 1.1995E-5 41684 0 NA
2-128624533-C-T p.Arg254Arg synonymous AMMECR1L 1 83362 1.19959E-5 41681 0 NA
2-128624542-G-A p.Ser251Ser synonymous AMMECR1L 1 83368 1.1995E-5 41684 0 1.19298E-5
2-128624570-T-C p.Asp242Gly missense+splice_region AMMECR1L 2 83308 2.40073E-5 41654 0 2.38643E-5
2-128624572-T-TTGTTCCTTAGCAACCTCAGGTAAATATGTGGCTGTGC c.725-3_725-2insGCACAGCCACATATTTACCTGAGGTTGCTAAGGAACA splice_region AMMECR1L 1 83306 1.20039E-5 41653 0 NA
2-128624574-G-T c.725-4C>A splice_region AMMECR1L 2 83302 2.4009E-5 41651 0 3.97798E-6
2-128624578-G-A c.725-8C>T splice_region AMMECR1L 1 83282 1.20074E-5 41641 0 6.36943E-5
2-128627036-T-G p.Lys239Thr missense AMMECR1L 1 82768 1.2082E-5 41384 0 3.9776E-6
2-128627086-A-C p.Ile222Met missense AMMECR1L 2 82832 2.41453E-5 41416 0 3.18674E-5
2-128627088-T-C p.Ile222Val missense AMMECR1L 1 82852 1.20697E-5 41426 0 NA
2-128627091-A-ATAGT p.Phe221fs frameshift AMMECR1L 1 82846 1.20706E-5 41423 0 NA
2-128627113-C-T p.Gly213Gly synonymous AMMECR1L 4 82626 4.84109E-5 41313 1 NA
2-128627120-T-TCCC c.634-3_634-2insGGG splice_region AMMECR1L 3 82428 3.63954E-5 41214 0 NA
2-128627120-T-TCCCAGTCCAGGTAATCACTGGC c.634-3_634-2insGCCAGTGATTACCTGGACTGGG splice_region AMMECR1L 1 82428 1.21318E-5 41214 0 NA
2-128627122-T-C c.634-4A>G splice_region AMMECR1L 42 82288 5.10402E-4 41144 0 7.97804E-4
2-128627122-T-A c.634-4A>T splice_region AMMECR1L 1 82294 1.21516E-5 41147 0 NA
2-128628394-G-C p.Asp209Glu missense AMMECR1L 1 82754 1.2084E-5 41377 0 NA
2-128628421-G-A p.Asn200Asn synonymous AMMECR1L 1 83056 1.20401E-5 41528 0 NA
2-128628447-A-G p.Phe192Leu missense AMMECR1L 2 83200 2.40385E-5 41600 0 3.98096E-5
2-128628460-C-A p.Glu187Asp missense AMMECR1L 1 83166 1.20241E-5 41583 0 NA
2-128628464-T-A p.Glu186Val missense AMMECR1L 1 83124 1.20302E-5 41562 0 NA
2-128628473-A-AG p.Leu183fs frameshift AMMECR1L 2 83066 2.40772E-5 41533 0 6.83025E-5
2-128628474-G-C p.Leu183Val missense AMMECR1L 2 83074 2.40749E-5 41537 0 4.0282E-6
2-128628475-G-A p.Pro182Pro synonymous AMMECR1L 2 83074 2.40749E-5 41537 0 3.18532E-5
2-128628475-G-T p.Pro182Pro synonymous AMMECR1L 4 83074 4.81498E-5 41537 0 7.2157E-5
2-128628475-G-C p.Pro182Pro synonymous AMMECR1L 3 83074 3.61124E-5 41537 0 7.6902E-5
2-128628478-G-A p.Pro181Pro synonymous AMMECR1L 1 83056 1.20401E-5 41528 0 3.99316E-6
2-128628488-C-T p.Ser178Asn missense AMMECR1L 1 82896 1.20633E-5 41448 0 NA
2-128628499-T-C p.Ala174Ala synonymous AMMECR1L 1 82668 1.20966E-5 41334 0 NA
2-128628505-G-GGTTAACGTGTATTCCCT c.519-4_519-3insAGGGAATACACGTTAAC splice_region AMMECR1L 1 82520 1.21183E-5 41260 0 NA
2-128628506-G-GTTAACGTGTATTCCCTGAGTCCTGAATGA c.519-5_519-4insTCATTCAGGACTCAGGGAATACACGTTAA splice_region AMMECR1L 1 82496 1.21218E-5 41248 0 NA
2-128628506-G-C c.519-4C>G splice_region AMMECR1L 7 82496 8.48526E-5 41248 0 4.49758E-5
2-128628508-G-A c.519-6C>T splice_region AMMECR1L 1 82442 1.21297E-5 41221 0 3.18573E-5
2-128628510-G-T c.519-8C>A splice_region AMMECR1L 2 82328 2.42931E-5 41164 0 3.18634E-5
2-128628815-G-GTCA c.518+7_518+8insTGA splice_region AMMECR1L 1 83296 1.20054E-5 41648 0 NA
2-128628816-T-C c.518+7A>G splice_region AMMECR1L 2 83304 2.40085E-5 41652 0 3.18593E-5
2-128628859-T-C p.Asn161Ser missense AMMECR1L 1 83384 1.19927E-5 41692 0 NA
2-128628896-G-T p.Arg149Arg synonymous AMMECR1L 1 83378 1.19936E-5 41689 0 8.25846E-6
2-128628897-C-T p.Lys148Lys synonymous AMMECR1L 2 83380 2.39866E-5 41690 0 2.47786E-5
2-128628904-C-T p.Arg146Gln missense AMMECR1L 3 83372 3.59833E-5 41686 0 3.18532E-5
2-128628918-C-T p.Thr141Thr synonymous AMMECR1L 1 83350 1.19976E-5 41675 0 4.17098E-5
2-128628930-C-T p.Pro137Pro synonymous AMMECR1L 1 83276 1.20083E-5 41638 0 NA
2-128628936-A-G c.408-3T>C splice_region AMMECR1L 1 83198 1.20195E-5 41599 0 8.01957E-6
2-128631400-A-G c.407+2T>C splice_donor AMMECR1L 1 83248 1.20123E-5 41624 0 NA
2-128631411-T-C p.Asn133Ser missense AMMECR1L 1 83304 1.20042E-5 41652 0 8.23764E-6
2-128631434-C-T p.Gln125Gln synonymous AMMECR1L 1 83340 1.1999E-5 41670 0 7.95349E-6
2-128631447-T-C p.Tyr121Cys missense AMMECR1L 1 83352 1.19973E-5 41676 0 NA
2-128631451-G-A p.Leu120Phe missense AMMECR1L 1 83360 1.19962E-5 41680 0 NA
2-128631466-C-T p.Val115Ile missense AMMECR1L 1 83372 1.19944E-5 41686 0 7.41278E-5
2-128631467-G-A p.Asp114Asp synonymous AMMECR1L 37 83370 4.43805E-4 41685 1 0.00125
2-128631470-G-A p.Phe113Phe synonymous AMMECR1L 4 83368 4.798E-5 41684 0 6.36902E-5
2-128631491-T-C p.Ala106Ala synonymous AMMECR1L 2 83382 2.3986E-5 41691 0 NA
2-128631511-T-C p.Lys100Glu missense AMMECR1L 1 83382 1.1993E-5 41691 0 3.18471E-5
2-128631519-T-C p.Asn97Ser missense AMMECR1L 1 83388 1.19921E-5 41694 0 1.64728E-5
2-128631541-G-A p.Pro90Ser missense AMMECR1L 1 83404 1.19898E-5 41702 0 7.9526E-6
2-128631554-C-T p.Ala85Ala synonymous AMMECR1L 5 83400 5.9952E-5 41700 0 6.58913E-5
2-128631565-C-G p.Ala82Pro missense AMMECR1L 736 83400 0.00882494 41700 7 0.00875629
2-128631566-G-A p.Pro81Pro synonymous AMMECR1L 1 83410 1.1989E-5 41705 0 4.94185E-5
2-128631567-G-A p.Pro81Leu missense AMMECR1L 1 83410 1.1989E-5 41705 0 6.25E-4
2-128631580-T-A p.Thr77Ser missense AMMECR1L 2 83394 2.39825E-5 41697 0 7.15763E-5
2-128631583-T-C p.Ile76Val missense AMMECR1L 1 83396 1.1991E-5 41698 0 NA
2-128631586-G-A p.Pro75Ser missense AMMECR1L 1 83396 1.1991E-5 41698 0 3.97662E-6
2-128631587-A-T p.Ser74Ser synonymous AMMECR1L 1 83396 1.1991E-5 41698 0 3.97652E-6
2-128631595-C-T p.Gly72Arg missense AMMECR1L 1 83392 1.19916E-5 41696 0 3.97684E-6
2-128631596-A-G p.Pro71Pro synonymous AMMECR1L 2 83392 2.39831E-5 41696 0 1.64734E-5
2-128631604-G-C p.Leu69Val missense AMMECR1L 1 83380 1.19933E-5 41690 0 NA
2-128631627-C-T p.Arg61Gln missense AMMECR1L 3 83390 3.59755E-5 41695 0 3.04813E-4
2-128631639-C-T p.Ser57Asn missense AMMECR1L 1 83378 1.19936E-5 41689 0 NA
2-128631652-G-C p.Gln53Glu missense AMMECR1L 2 83380 2.39866E-5 41690 0 NA
2-128631682-C-T p.Gly43Ser missense AMMECR1L 1 83358 1.19964E-5 41679 0 2.47272E-5
2-128631682-CG-AA p.ProGly42ProCys missense AMMECR1L 1 83358 1.19964E-5 41679 0 NA
2-128631685-G-A p.Pro42Ser missense AMMECR1L 229 83362 0.00274705 41681 0 0.00222788
2-128631690-G-A p.Thr40Ile missense AMMECR1L 1 83358 1.19964E-5 41679 0 8.24321E-6
2-128631691-T-C p.Thr40Ala missense AMMECR1L 1 83354 1.1997E-5 41677 0 NA
2-128631706-C-T p.Gly35Arg missense AMMECR1L 1 83338 1.19993E-5 41669 0 9.90311E-5
2-128631715-G-T p.His32Asn missense AMMECR1L 1 83328 1.20008E-5 41664 0 NA
2-128631735-T-C p.Lys25Arg missense AMMECR1L 4 83286 4.80273E-5 41643 0 8.25723E-6
2-128631755-A-G p.Cys18Cys synonymous AMMECR1L 2 83254 2.40229E-5 41627 0 1.65259E-5
2-128631759-C-G p.Gly17Ala missense AMMECR1L 1 83242 1.20132E-5 41621 0 8.26515E-6
2-128631761-T-C p.Ala16Ala synonymous AMMECR1L 6 83236 7.20842E-5 41618 0 3.18431E-5
2-128631770-C-T p.Lys13Lys synonymous AMMECR1L 1 83244 1.20129E-5 41622 0 7.95811E-6
2-128631771-T-C p.Lys13Arg missense AMMECR1L 1 83250 1.2012E-5 41625 0 1.65533E-5
2-128631778-C-T p.Glu11Lys missense AMMECR1L 1 83216 1.20169E-5 41608 0 3.97931E-6
2-128631779-G-A p.Leu10Leu synonymous AMMECR1L 5 83218 6.00832E-5 41609 0 5.03525E-4
2-128631779-G-C p.Leu10Leu synonymous AMMECR1L 1 83218 1.20166E-5 41609 0 NA
2-128631782-T-C p.Pro9Pro synonymous AMMECR1L 1 83210 1.20178E-5 41605 0 NA
2-128631790-CACA-C p.Cys6del conservative_inframe_deletion AMMECR1L 1 83210 1.20178E-5 41605 0 NA
2-128631846-C-CTGAAAGCAGAAAGTTTGTATTGCCAGAGGAACAG c.-38-1_-38insCTGTTCCTCTGGCAATACAAACTTTCTGCTTTCA splice_acceptor AMMECR1L 5 82754 6.042E-5 41377 2 NA
2-128631849-A-G c.-38-3T>C splice_region AMMECR1L 3 82664 3.62915E-5 41332 0 1.7073E-5
2-128631849-A-T c.-38-3T>A splice_region AMMECR1L 1 82664 1.20972E-5 41332 0 8.5365E-6
2-128641822-G-C c.-84C>G 5_prime_UTR_premature_start_codon_gain AMMECR1L 5 2958 0.00169033 1479 0 3.18492E-4