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 |