regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH16A1_chr19_49448225_49476050 | 49459079 | C | A | missense_variant | MODERATE | HG02723.hp2 | a0017 | a0017c0017 | a0017c0017t0003 | a0017c0017t0003g0003 | 1 | 342 | 0.0029 | 0 | c.313 others(3): Show |
p.Leu others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 3/17 | 420/3099 | 313/2409 | 105/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49459729 | C | G | missense_variant | MODERATE | HG01099.hp2 HG01952.hp2 NA19079.hp2 |
a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0006 | 3 | 342 | 0.0088 | 0 | c.380 others(3): Show |
p.Thr others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 4/17 | 487/3099 | 380/2409 | 127/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49459744 | G | A | missense_variant | MODERATE | HG02895.hp2 | a0007 | a0007c0018 | a0007c0018t0002 | a0007c0018t0002g0154 | 1 | 342 | 0.0029 | 0 | c.395 others(3): Show |
p.Arg others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 4/17 | 502/3099 | 395/2409 | 132/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49460870 | T | G | missense_variant | MODERATE | NA19007.hp2 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0175 | 1 | 342 | 0.0029 | 0 | c.548 others(3): Show |
p.Met others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/17 | 655/3099 | 548/2409 | 183/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461712 | T | C | missense_variant | MODERATE | HG00280.hp1 | a0015 | a0015c0020 | a0015c0020t0003 | a0015c0020t0003g0015 | 1 | 342 | 0.0029 | 0 | c.671 others(3): Show |
p.Leu others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 6/17 | 778/3099 | 671/2409 | 224/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461720 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0003a0002c0006others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(24): Show | a0002c0002t0001g0035a0002c0002t0001g0147a0002c0002t0001g0150others(124): Show | 165 | 342 | 0.4825 | 0 | c.679 others(3): Show |
p.Leu others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 6/17 | 786/3099 | 679/2409 | 227/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461915 | G | A | missense_variant | MODERATE | HG03516.hp1 | a0008 | a0008c0021 | a0008c0021t0003 | a0008c0021t0003g0108 | 1 | 342 | 0.0029 | 0 | c.791 others(3): Show |
p.Gly others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 7/17 | 898/3099 | 791/2409 | 264/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461989 | T | A | missense_variant | MODERATE | HG00733.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0001 | 1 | 342 | 0.0029 | 0 | c.865 others(3): Show |
p.Ser others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 7/17 | 972/3099 | 865/2409 | 289/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461995 | G | A | missense_variant | MODERATE | HG00733.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0001 | 1 | 342 | 0.0029 | 0 | c.871 others(3): Show |
p.Val others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 7/17 | 978/3099 | 871/2409 | 291/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49462699 | G | A | missense_variant | MODERATE | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(13): Show |
a0003a0004a0006 | a0003c0004a0004c0008a0006c0011 | a0003c0004t0002a0004c0008t0008a0004c0008t0012others(1): Show | a0003c0004t0002g0027a0003c0004t0002g0125a0003c0004t0002g0126others(8): Show | 16 | 342 | 0.0468 | 0 | c.104 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/17 | 1149/3099 | 1042/2409 | 348/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464164 | C | T | missense_variant | MODERATE | HG01081.hp1 | a0009 | a0009c0027 | a0009c0027t0001 | a0009c0027t0001g0001 | 1 | 342 | 0.0029 | 0 | c.123 others(4): Show |
p.Thr others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 10/17 | 1339/3099 | 1232/2409 | 411/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464656 | T | A | missense_variant | MODERATE | HG02145.hp1 HG02723.hp1 HG02818.hp1 others(2): Show |
a0004 | a0004c0008 | a0004c0008t0008a0004c0008t0012 | a0004c0008t0008g0008a0004c0008t0012g0124 | 5 | 342 | 0.0146 | 0 | c.146 others(4): Show |
p.Ser others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 12/17 | 1569/3099 | 1462/2409 | 488/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49465794 | G | A | missense_variant | MODERATE | HG03688.hp2 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0084 | 1 | 342 | 0.0029 | 0 | c.162 others(4): Show |
p.Arg others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 13/17 | 1732/3099 | 1625/2409 | 542/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49465882 | G | C | missense_variant | MODERATE | HG00642.hp2 | a0011 | a0011c0024 | a0011c0024t0004 | a0011c0024t0004g0039 | 1 | 342 | 0.0029 | 0 | c.171 others(4): Show |
p.Glu others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 13/17 | 1820/3099 | 1713/2409 | 571/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49466204 | C | T | missense_variant | MODERATE | NA19081.hp1 | a0014 | a0014c0030 | a0014c0030t0002 | a0014c0030t0002g0185 | 1 | 342 | 0.0029 | 0 | c.185 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/17 | 1966/3099 | 1859/2409 | 620/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49468867 | A | T | missense_variant | MODERATE | NA19062.hp1 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0142 | 1 | 342 | 0.0029 | 0 | c.212 others(4): Show |
p.Met others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 16/17 | 2235/3099 | 2128/2409 | 710/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49468868 | T | G | missense_variant | MODERATE | NA19062.hp1 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0142 | 1 | 342 | 0.0029 | 0 | c.212 others(4): Show |
p.Met others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 16/17 | 2236/3099 | 2129/2409 | 710/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49468870 | G | C | missense_variant | MODERATE | NA19062.hp1 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0142 | 1 | 342 | 0.0029 | 0 | c.213 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 16/17 | 2238/3099 | 2131/2409 | 711/802 | chr19 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95614127 | C | T | missense_variant | MODERATE | NA19067.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0147 | 1 | 372 | 0.0027 | 0 | c.164 others(4): Show |
p.Arg others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 14/18 | 1783/3352 | 1640/2388 | 547/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95621183 | C | T | missense_variant | MODERATE | NA18984.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0106 | 1 | 372 | 0.0027 | 0 | c.131 others(4): Show |
p.Gly others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 12/18 | 1458/3352 | 1315/2388 | 439/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95626740 | G | T | missense_variant | MODERATE | HG01099.hp2 HG01167.hp2 HG02523.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0020a0003c0005t0003g0021a0003c0005t0003g0051others(2): Show | 7 | 372 | 0.0188 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 10/18 | 1258/3352 | 1115/2388 | 372/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95628405 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00738.hp1 HG00741.hp2 others(21): Show |
a0002a0003 | a0002c0002a0002c0014a0003c0005 | a0002c0002t0003a0002c0014t0003a0003c0005t0003 | a0002c0002t0003g0013a0002c0002t0003g0022a0002c0002t0003g0023others(15): Show | 24 | 372 | 0.0645 | 0 | c.896 others(3): Show |
p.Thr others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 8/18 | 1039/3352 | 896/2388 | 299/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95637100 | G | A | missense_variant | MODERATE | HG01261.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0116 | 1 | 372 | 0.0027 | 0 | c.551 others(3): Show |
p.Ala others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 5/18 | 694/3352 | 551/2388 | 184/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95653292 | G | A | missense_variant others(1): Show |
MODERATE | NA18970.hp2 | a0004 | a0004c0017 | a0004c0017t0012 | a0004c0017t0012g0249 | 1 | 372 | 0.0027 | 0 | c.86C others(2): Show |
p.Ser others(5): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 2/18 | 229/3352 | 86/2388 | 29/795 | chr10 | TogoVar | ||
ALDH1A1_chr9_72895671_72958053 | 72925588 | T | A | missense_variant | MODERATE | HG00438.hp2 HG02083.hp1 NA19002.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0198a0002c0003t0001g0228a0002c0003t0001g0248others(1): Show | 4 | 306 | 0.0131 | 0 | c.529 others(3): Show |
p.Ile others(6): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 6/13 | 582/2096 | 529/1506 | 177/501 | chr9 | TogoVar | ||
ALDH1A1_chr9_72895671_72958053 | 72927164 | A | T | missense_variant | MODERATE | HG02559.hp1 NA18522.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0046a0003c0004t0001g0282 | 2 | 306 | 0.0065 | 0 | c.456 others(3): Show |
p.Phe others(6): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 5/13 | 509/2096 | 456/1506 | 152/501 | chr9 | TogoVar | ||
ALDH1A2_chr15_57948429_58070711 | 57963929 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(156): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(11): Show | a0002c0002t0002g0003a0002c0002t0002g0057a0002c0002t0002g0058others(154): Show | 159 | 326 | 0.4877 | 0 | c.104 others(4): Show |
p.Val others(6): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 9/13 | 1103/3386 | 1042/1557 | 348/518 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100892595 | T | A | missense_variant | MODERATE | NA19057.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 | 1 | 414 | 0.0024 | 0 | c.431 others(3): Show |
p.Phe others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 4/13 | 508/3469 | 431/1539 | 144/512 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100905610 | A | G | missense_variant | MODERATE | HG00733.hp2 HG01109.hp2 HG01167.hp2 others(61): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005a0002c0002t0007others(6): Show | a0002c0002t0004g0006a0002c0002t0004g0051a0002c0002t0004g0104others(46): Show | 64 | 414 | 0.1546 | 0 | c.115 others(4): Show |
p.Met others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 10/13 | 1233/3469 | 1156/1539 | 386/512 | chr15 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38395986 | G | A | missense_variant | MODERATE | NA18980.hp1 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0003 | 1 | 484 | 0.0021 | 0 | c.238 others(3): Show |
p.Val others(5): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 353/3028 | 238/1554 | 80/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396005 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(140): Show |
a0003a0005a0013 | a0003c0002a0003c0009a0003c0016others(2): Show | a0003c0002t0001a0003c0002t0007a0003c0002t0013others(6): Show | a0003c0002t0001g0001a0003c0002t0001g0002a0003c0002t0001g0010others(33): Show | 143 | 484 | 0.2955 | 0 | c.257 others(3): Show |
p.Ala others(5): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 372/3028 | 257/1554 | 86/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396068 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(172): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0007a0006c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0075a0001c0001t0002g0003a0001c0001t0002g0008others(49): Show | 175 | 484 | 0.3616 | 0 | c.320 others(3): Show |
p.Arg others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 435/3028 | 320/1554 | 107/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396076 | G | C | missense_variant | MODERATE | HG02486.hp1 | a0012 | a0012c0011 | a0012c0011t0005 | a0012c0011t0005g0095 | 1 | 484 | 0.0021 | 0 | c.328 others(3): Show |
p.Asp others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 443/3028 | 328/1554 | 110/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396274 | G | A | missense_variant | MODERATE | HG00544.hp1 HG00735.hp1 HG01081.hp1 others(10): Show |
a0005a0009 | a0005c0006a0009c0012 | a0005c0006t0001a0009c0012t0001 | a0005c0006t0001g0001a0005c0006t0001g0013a0005c0006t0001g0068others(2): Show | 13 | 484 | 0.0269 | 0 | c.526 others(3): Show |
p.Val others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 641/3028 | 526/1554 | 176/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396353 | C | T | missense_variant | MODERATE | NA19065.hp2 | a0010 | a0010c0014 | a0010c0014t0005 | a0010c0014t0005g0002 | 1 | 484 | 0.0021 | 0 | c.605 others(3): Show |
p.Thr others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 720/3028 | 605/1554 | 202/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396505 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(467): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0075a0001c0001t0002g0003a0001c0001t0002g0008others(125): Show | 470 | 484 | 0.9711 | 0 | c.757 others(3): Show |
p.Val others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 872/3028 | 757/1554 | 253/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396722 | C | A | missense_variant | MODERATE | NA18970.hp1 NA18974.hp2 NA19009.hp2 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0003a0006c0008t0002g0041 | 3 | 484 | 0.0062 | 0 | c.974 others(3): Show |
p.Thr others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 1089/3028 | 974/1554 | 325/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396910 | G | A | missense_variant | MODERATE | NA19054.hp2 | a0008 | a0008c0015 | a0008c0015t0006 | a0008c0015t0006g0016 | 1 | 484 | 0.0021 | 0 | c.116 others(4): Show |
p.Gly others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 1277/3028 | 1162/1554 | 388/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38396916 | C | T | missense_variant | MODERATE | HG03490.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0093 | 1 | 484 | 0.0021 | 0 | c.116 others(4): Show |
p.Arg others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 1283/3028 | 1168/1554 | 390/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38397136 | T | C | missense_variant | MODERATE | HG03195.hp1 | a0011 | a0011c0017 | a0011c0017t0006 | a0011c0017t0006g0083 | 1 | 484 | 0.0021 | 0 | c.138 others(4): Show |
p.Leu others(6): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 1503/3028 | 1388/1554 | 463/517 | chr9 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126105876 | C | A | missense_variant | MODERATE | HG02258.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0012a0013a0023 | a0012c0017a0012c0040a0013c0021others(1): Show | a0012c0017t0001a0012c0040t0001a0013c0021t0001others(1): Show | a0012c0017t0001g0023a0012c0017t0001g0027a0012c0040t0001g0139others(3): Show | 6 | 338 | 0.0178 | 0 | c.250 others(4): Show |
p.Ala others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 22/23 | 2637/3064 | 2503/2709 | 835/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126105890 | G | A | missense_variant | MODERATE | HG02145.hp1 | a0019 | a0019c0035 | a0019c0035t0001 | a0019c0035t0001g0167 | 1 | 338 | 0.0030 | 0 | c.248 others(4): Show |
p.Thr others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 22/23 | 2623/3064 | 2489/2709 | 830/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126107160 | T | C | missense_variant | MODERATE | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(21): Show |
a0006a0007a0014others(3): Show | a0006c0006a0006c0038a0007c0010others(5): Show | a0006c0006t0001a0006c0038t0001a0007c0010t0001others(5): Show | a0006c0006t0001g0010a0006c0006t0001g0056a0006c0006t0001g0059others(19): Show | 24 | 338 | 0.0710 | 0 | c.243 others(4): Show |
p.Ile others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 21/23 | 2568/3064 | 2434/2709 | 812/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126107216 | T | C | missense_variant | MODERATE | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(57): Show |
a0003a0008a0009others(2): Show | a0003c0003a0003c0023a0003c0026others(5): Show | a0003c0003t0001a0003c0023t0001a0003c0026t0001others(5): Show | a0003c0003t0001g0017a0003c0003t0001g0049a0003c0003t0001g0053others(55): Show | 60 | 338 | 0.1775 | 0 | c.237 others(4): Show |
p.Asp others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 21/23 | 2512/3064 | 2378/2709 | 793/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126109968 | C | T | missense_variant | MODERATE | HG02027.hp2 | a0026 | a0026c0029 | a0026c0029t0001 | a0026c0029t0001g0075 | 1 | 338 | 0.0030 | 0 | c.232 others(4): Show |
p.Gly others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 20/23 | 2457/3064 | 2323/2709 | 775/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126110079 | T | G | missense_variant | MODERATE | NA18998.hp2 | a0025 | a0025c0041 | a0025c0041t0001 | a0025c0041t0001g0289 | 1 | 338 | 0.0030 | 0 | c.221 others(4): Show |
p.Asn others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 20/23 | 2346/3064 | 2212/2709 | 738/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126135566 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(68): Show |
a0002a0006a0009others(5): Show | a0002c0002a0002c0013a0006c0006others(8): Show | a0002c0002t0001a0002c0013t0001a0006c0006t0001others(8): Show | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0029others(63): Show | 71 | 338 | 0.2101 | 0 | c.144 others(4): Show |
p.Ser others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 12/23 | 1575/3064 | 1441/2709 | 481/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126136822 | T | G | missense_variant | MODERATE | HG00639.hp2 HG00735.hp1 HG01074.hp2 others(31): Show |
a0005a0008a0013others(4): Show | a0005c0005a0005c0020a0005c0043others(6): Show | a0005c0005t0001a0005c0020t0001a0005c0043t0001others(6): Show | a0005c0005t0001g0001a0005c0005t0001g0004a0005c0005t0001g0015others(26): Show | 34 | 338 | 0.1006 | 0 | c.128 others(4): Show |
p.Glu others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 11/23 | 1420/3064 | 1286/2709 | 429/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126136850 | T | A | missense_variant | MODERATE | NA18949.hp2 NA19011.hp1 |
a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0071a0015c0019t0001g0279 | 2 | 338 | 0.0059 | 0 | c.125 others(4): Show |
p.Met others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 11/23 | 1392/3064 | 1258/2709 | 420/902 | chr3 | TogoVar | ||
ALDH1L1_chr3_126098570_126185586 | 126136883 | C | T | missense_variant others(1): Show |
MODERATE | HG02109.hp1 HG02145.hp1 HG02451.hp1 others(4): Show |
a0011a0019 | a0011c0011a0019c0035 | a0011c0011t0001a0019c0035t0001 | a0011c0011t0001g0021a0011c0011t0001g0024a0011c0011t0001g0130others(4): Show | 7 | 338 | 0.0207 | 0 | c.122 others(4): Show |
p.Val others(6): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 11/23 | 1359/3064 | 1225/2709 | 409/902 | chr3 | TogoVar |