Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-35634171-C-T c.-67C>T 5_prime_UTR_premature_start_codon_gain FXYD7 1 39220 2.54972E-5 19610 0 NA
19-35634250-A-T p.Thr5Ser missense FXYD7 1 52570 1.90223E-5 26285 0 NA
19-35639594-C-T c.32-3C>T splice_region FXYD7 1 80210 1.24673E-5 40105 0 3.18857E-5
19-35639609-C-T p.Pro15Leu missense FXYD7 1 80536 1.24168E-5 40268 0 NA
19-35639614-C-G p.Pro17Ala missense FXYD7 1 80604 1.24063E-5 40302 0 3.37627E-5
19-35639614-C-T p.Pro17Ser missense FXYD7 1 80604 1.24063E-5 40302 0 NA
19-35639616-A-G p.Pro17Pro synonymous FXYD7 1 80602 1.24066E-5 40301 0 4.21024E-5
19-35639616-A-C p.Pro17Pro synonymous FXYD7 1 80602 1.24066E-5 40301 0 NA
19-35639625-T-C p.Tyr20Tyr splice_region+synonymous FXYD7 4 80668 4.9586E-5 40334 0 3.61768E-5
19-35639632-T-C c.61+6T>C splice_region FXYD7 19 80682 2.35492E-4 40341 1 8.80359E-5
19-35642157-A-T p.Asp21Val missense+splice_region FXYD7 1 80906 1.236E-5 40453 0 3.97659E-6
19-35642164-C-T p.Asn23Asn synonymous FXYD7 595 80940 0.00735112 40470 10 0.0140987
19-35642164-C-A p.Asn23Lys missense FXYD7 1 80972 1.23499E-5 40486 0 8.23642E-6
19-35642166-C-T p.Thr24Met missense FXYD7 3 80980 3.70462E-5 40490 0 9.56328E-5
19-35642194-A-T p.Ala33Ala synonymous FXYD7 3 81024 3.70261E-5 40512 0 3.18756E-5
19-35642210-C-T p.Leu39Leu synonymous FXYD7 1 81014 1.23435E-5 40507 0 NA
19-35642224-C-T p.Ile43Ile synonymous FXYD7 1 81000 1.23457E-5 40500 0 1.39172E-4
19-35642225-G-A p.Val44Ile missense FXYD7 8 81004 9.87606E-5 40502 0 6.37308E-5
19-35642239-C-G p.Cys48Trp missense FXYD7 1 80984 1.23481E-5 40492 0 3.18634E-5
19-35642267-C-G p.Arg58Gly missense FXYD7 7 81014 8.64048E-5 40507 0 6.36943E-5
19-35642268-G-A p.Arg58His missense FXYD7 1 81010 1.23442E-5 40505 0 7.95349E-6
19-35642281-G-C p.Trp62Cys missense FXYD7 3 81002 3.70361E-5 40501 0 2.47093E-5
19-35642282-C-A p.Leu63Ile missense FXYD7 3 81006 3.70343E-5 40503 0 NA
19-35642290-C-T p.Ser65Ser synonymous FXYD7 1 81024 1.2342E-5 40512 0 NA
19-35642297-T-C p.Tyr68His missense FXYD7 10417 80894 0.128773 40447 749 0.136755
19-35642302-G-T p.Pro69Pro synonymous FXYD7 39 81020 4.81363E-4 40510 0 3.30072E-4
19-35642302-GCTATGTCCTGTCTT-G p.Cys71fs frameshift FXYD7 2 81024 2.4684E-5 40512 0 4.11841E-5
19-35642302-G-A p.Pro69Pro synonymous FXYD7 2 81024 2.4684E-5 40512 0 3.97678E-6
19-35642306-T-G p.Cys71Gly missense FXYD7 4079 80960 0.0503829 40480 127 0.07375
19-35642312-GTCT-G p.Phe74del disruptive_inframe_deletion FXYD7 2 81030 2.46822E-5 40515 0 NA
19-35642313-T-C p.Val73Ala missense FXYD7 1 81034 1.23405E-5 40517 0 NA
19-35642350-G-A p.Lys48Lys synonymous FXYD7 1 81026 1.23417E-5 40513 0 3.97662E-6
19-35642358-G-T p.Cys51Phe missense FXYD7 1 81008 1.23445E-5 40504 0 NA
19-35642359-C-T p.Cys51Cys synonymous FXYD7 1 81006 1.23448E-5 40503 0 3.18492E-5
19-35642361-G-A p.Arg52Lys missense FXYD7 1 81014 1.23435E-5 40507 0 3.97703E-6
19-35642367-C-T p.Ala54Val missense FXYD7 21 80988 2.59298E-4 40494 0 0.00125
19-35642367-C-A p.Ala54Glu missense FXYD7 2 80990 2.46944E-5 40495 0 1.39203E-4
19-35642376-G-C p.Ser57Thr missense+splice_region FXYD7 1 80986 1.23478E-5 40493 0 3.18532E-5
19-35642378-T-A c.170+2T>A splice_donor FXYD7 1 80984 1.23481E-5 40492 0 NA
19-35642380-T-C c.170+4T>C splice_region FXYD7 97 80982 0.0011978 40491 0 9.18723E-4
19-35642531-C-T c.180-5C>T splice_region FXYD7 6 81038 7.40393E-5 40519 0 3.50274E-4
19-35642577-G-A c.220+1G>A splice_donor FXYD7 3 80966 3.70526E-5 40483 0 3.9763E-6
19-35644800-C-G p.Pro75Arg missense FXYD7 1 79348 1.26027E-5 39674 0 NA