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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACB_chr12_109111587_109273226 | 109237251 | C | T | synonymous_variant | LOW | HG03516.hp1 | a0021 | a0021c0068 | a0021c0068t0001 | a0021c0068t0001g0202 | 1 | 308 | 0.0033 | 0 | c.453 others(4): Show |
p.Thr others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 34/53 | 4660/9368 | 4533/7377 | 1511/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109246238 | T | C | synonymous_variant | LOW | HG01884.hp1 HG02280.hp2 HG02896.hp1 others(2): Show |
a0001a0009a0017 | a0001c0032a0001c0064a0009c0096others(1): Show | a0001c0032t0004a0001c0064t0009a0009c0096t0009others(1): Show | a0001c0032t0004g0291a0001c0032t0004g0292a0001c0064t0009g0184others(2): Show | 5 | 308 | 0.0162 | 0 | c.536 others(4): Show |
p.Asp others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 39/53 | 5488/9368 | 5361/7377 | 1787/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109253132 | C | T | synonymous_variant | LOW | HG02015.hp1 | a0002 | a0002c0086 | a0002c0086t0003 | a0002c0086t0003g0260 | 1 | 308 | 0.0033 | 0 | c.601 others(4): Show |
p.Leu others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 43/53 | 6146/9368 | 6019/7377 | 2007/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109254252 | C | T | synonymous_variant | LOW | HG01081.hp1 | a0027 | a0027c0065 | a0027c0065t0005 | a0027c0065t0005g0225 | 1 | 308 | 0.0033 | 0 | c.608 others(4): Show |
p.Asp others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 44/53 | 6211/9368 | 6084/7377 | 2028/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109256177 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(83): Show |
a0001a0003a0004others(8): Show | a0001c0002a0001c0011a0001c0013others(24): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(32): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0079others(83): Show | 86 | 308 | 0.2792 | 0 | c.620 others(4): Show |
p.His others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 45/53 | 6331/9368 | 6204/7377 | 2068/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109259023 | C | T | synonymous_variant | LOW | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0032 | a0001c0032t0004 | a0001c0032t0004g0291a0001c0032t0004g0292 | 2 | 308 | 0.0065 | 0 | c.641 others(4): Show |
p.Thr others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 47/53 | 6538/9368 | 6411/7377 | 2137/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109265133 | A | G | synonymous_variant | LOW | HG02897.hp1 | a0006 | a0006c0122 | a0006c0122t0004 | a0006c0122t0004g0167 | 1 | 308 | 0.0033 | 0 | c.696 others(4): Show |
p.Ala others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 51/53 | 7093/9368 | 6966/7377 | 2322/2458 | chr12 | TogoVar | ||
ACACB_chr12_109111587_109273226 | 109265256 | C | T | synonymous_variant | LOW | HG02738.hp2 | a0003 | a0003c0081 | a0003c0081t0002 | a0003c0081t0002g0230 | 1 | 308 | 0.0033 | 0 | c.708 others(4): Show |
p.Phe others(7): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 51/53 | 7216/9368 | 7089/7377 | 2363/2458 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111692760 | A | G | synonymous_variant | LOW | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318a0002c0003t0003g0319a0002c0003t0003g0320others(5): Show | 8 | 336 | 0.0238 | 0 | c.51A others(2): Show |
p.Arg others(5): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 2/21 | 251/4006 | 51/3180 | 17/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111692862 | A | T | synonymous_variant | LOW | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318a0002c0003t0003g0319a0002c0003t0003g0320others(5): Show | 8 | 336 | 0.0238 | 0 | c.153 others(3): Show |
p.Gly others(5): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 2/21 | 353/4006 | 153/3180 | 51/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111715957 | G | A | synonymous_variant | LOW | HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0197a0001c0006t0001g0198 | 2 | 336 | 0.0060 | 0 | c.987 others(3): Show |
p.Glu others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/21 | 1187/4006 | 987/3180 | 329/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111728052 | A | G | synonymous_variant | LOW | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318a0002c0003t0003g0319a0002c0003t0003g0320others(5): Show | 8 | 336 | 0.0238 | 0 | c.115 others(4): Show |
p.Arg others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 9/21 | 1352/4006 | 1152/3180 | 384/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111729901 | C | T | synonymous_variant | LOW | HG01123.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0258 | 1 | 336 | 0.0030 | 0 | c.133 others(4): Show |
p.Leu others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 10/21 | 1539/4006 | 1339/3180 | 447/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111736961 | T | A | synonymous_variant | LOW | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318a0002c0003t0003g0319a0002c0003t0003g0320others(5): Show | 8 | 336 | 0.0238 | 0 | c.167 others(4): Show |
p.Arg others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 12/21 | 1871/4006 | 1671/3180 | 557/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111753837 | G | A | synonymous_variant | LOW | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(96): Show |
a0001a0004a0010 | a0001c0002a0004c0005a0010c0011 | a0001c0002t0002a0004c0005t0002a0010c0011t0002 | a0001c0002t0002g0001a0001c0002t0002g0004a0001c0002t0002g0016others(91): Show | 99 | 336 | 0.2946 | 0 | c.288 others(4): Show |
p.Ala others(6): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 19/21 | 3083/4006 | 2883/3180 | 961/1059 | chr12 | TogoVar | ||
ACAD10_chr12_111681053_111762099 | 111756410 | C | T | synonymous_variant | LOW | HG02056.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0062 | 1 | 336 | 0.0030 | 0 | c.311 others(4): Show |
p.Ala others(7): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 21/21 | 3317/4006 | 3117/3180 | 1039/1059 | chr12 | TogoVar | ||
ACAD11_chr3_132553141_132664809 | 132559022 | G | A | synonymous_variant | LOW | HG00323.hp2 HG00738.hp2 HG01106.hp1 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0009a0002c0002a0004c0007others(2): Show | a0001c0009t0001a0002c0002t0001a0004c0007t0001others(2): Show | a0001c0009t0001g0124a0001c0009t0001g0234a0002c0002t0001g0003others(30): Show | 37 | 316 | 0.1171 | 0 | c.229 others(4): Show |
p.Ile others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 20/20 | 2350/3231 | 2292/2343 | 764/780 | chr3 | TogoVar | ||
ACAD11_chr3_132553141_132664809 | 132603272 | A | G | synonymous_variant | LOW | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0132a0001c0008t0001g0134 | 2 | 316 | 0.0063 | 0 | c.157 others(4): Show |
p.Asp others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/20 | 1636/3231 | 1578/2343 | 526/780 | chr3 | TogoVar | ||
ACAD11_chr3_132553141_132664809 | 132628399 | G | A | synonymous_variant | LOW | HG02165.hp2 NA18972.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0196a0001c0010t0001g0197 | 2 | 316 | 0.0063 | 0 | c.101 others(4): Show |
p.Ser others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 8/20 | 1069/3231 | 1011/2343 | 337/780 | chr3 | TogoVar | ||
ACAD11_chr3_132553141_132664809 | 132628414 | A | G | synonymous_variant | LOW | HG02109.hp1 HG02970.hp1 HG03041.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0004 | a0001c0006t0001g0180a0001c0006t0001g0181a0001c0006t0004g0179 | 3 | 316 | 0.0095 | 0 | c.996 others(3): Show |
p.Asn others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 8/20 | 1054/3231 | 996/2343 | 332/780 | chr3 | TogoVar | ||
ACAD11_chr3_132553141_132664809 | 132642752 | G | A | synonymous_variant | LOW | HG01074.hp2 NA18946.hp1 NA18989.hp2 others(4): Show |
a0001a0010 | a0001c0004a0010c0016 | a0001c0004t0001a0001c0004t0002a0010c0016t0001 | a0001c0004t0001g0027a0001c0004t0001g0043a0001c0004t0001g0101others(4): Show | 7 | 316 | 0.0222 | 0 | c.300 others(3): Show |
p.Pro others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 3/20 | 358/3231 | 300/2343 | 100/780 | chr3 | TogoVar | ||
ACAD8_chr11_134248568_134270855 | 134261139 | C | T | synonymous_variant | LOW | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0017a0003c0003t0001g0017 | 4 | 448 | 0.0089 | 0 | c.801 others(3): Show |
p.Leu others(6): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 7/11 | 834/2176 | 801/1248 | 267/415 | chr11 | TogoVar | ||
ACAD8_chr11_134248568_134270855 | 134262588 | C | T | synonymous_variant | LOW | NA18988.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0003 | 1 | 448 | 0.0022 | 0 | c.116 others(4): Show |
p.Tyr others(6): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 10/11 | 1194/2176 | 1161/1248 | 387/415 | chr11 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128895342 | A | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(225): Show |
a0001a0004a0008 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0005others(162): Show | 228 | 372 | 0.6129 | 0 | c.379 others(3): Show |
p.Arg others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 4/18 | 451/2445 | 379/1866 | 127/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128896495 | C | T | synonymous_variant | LOW | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0087 | 1 | 372 | 0.0027 | 0 | c.513 others(3): Show |
p.Ser others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 5/18 | 585/2445 | 513/1866 | 171/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128899440 | T | C | synonymous_variant | LOW | HG02040.hp2 HG02055.hp2 HG02056.hp2 others(19): Show |
a0001a0004a0008 | a0001c0004a0001c0012a0004c0011others(1): Show | a0001c0004t0004a0001c0012t0004a0004c0011t0004others(1): Show | a0001c0004t0004g0021a0001c0004t0004g0022a0001c0004t0004g0023others(17): Show | 22 | 372 | 0.0591 | 0 | c.787 others(3): Show |
p.Leu others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/18 | 859/2445 | 787/1866 | 263/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128904123 | A | G | synonymous_variant | LOW | HG02572.hp2 | a0001 | a0001c0014 | a0001c0014t0005 | a0001c0014t0005g0190 | 1 | 372 | 0.0027 | 0 | c.102 others(4): Show |
p.Gly others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 10/18 | 1092/2445 | 1020/1866 | 340/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128909090 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(131): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0008 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0005others(89): Show | 134 | 372 | 0.3602 | 0 | c.147 others(4): Show |
p.Pro others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 14/18 | 1548/2445 | 1476/1866 | 492/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128910140 | C | T | synonymous_variant | LOW | HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0002 | a0001c0007t0001g0257a0001c0007t0002g0187 | 2 | 372 | 0.0054 | 0 | c.168 others(4): Show |
p.His others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 16/18 | 1755/2445 | 1683/1866 | 561/621 | chr3 | TogoVar | ||
ACAD9_chr3_128874620_128918114 | 128912598 | G | A | synonymous_variant | LOW | NA19091.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0023 | 1 | 372 | 0.0027 | 0 | c.185 others(4): Show |
p.Arg others(6): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 18/18 | 1929/2445 | 1857/1866 | 619/621 | chr3 | TogoVar | ||
ACADL_chr2_210182923_210230447 | 210205746 | G | A | synonymous_variant | LOW | HG02486.hp2 HG03139.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024a0001c0003t0001g0243a0001c0003t0001g0244 | 4 | 274 | 0.0146 | 0 | c.654 others(3): Show |
p.Val others(6): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 6/11 | 838/2515 | 654/1293 | 218/430 | chr2 | TogoVar | ||
ACADL_chr2_210182923_210230447 | 210225228 | G | T | synonymous_variant | LOW | HG01975.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0025 | 1 | 274 | 0.0037 | 0 | c.36C others(2): Show |
p.Val others(5): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 1/11 | 220/2515 | 36/1293 | 12/430 | chr2 | TogoVar | ||
ACADM_chr1_75719709_75768679 | 75733592 | A | C | synonymous_variant | LOW | HG01109.hp2 HG02055.hp2 HG02895.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0291a0001c0004t0005g0292a0001c0004t0005g0293others(7): Show | 10 | 364 | 0.0275 | 0 | c.351 others(3): Show |
p.Thr others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 5/12 | 430/2261 | 351/1266 | 117/421 | chr1 | TogoVar | ||
ACADM_chr1_75719709_75768679 | 75740000 | T | G | synonymous_variant | LOW | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0008 | a0001c0003t0001g0099a0001c0003t0001g0100a0001c0003t0001g0101others(10): Show | 13 | 364 | 0.0357 | 0 | c.489 others(3): Show |
p.Pro others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 7/12 | 568/2261 | 489/1266 | 163/421 | chr1 | TogoVar | ||
ACADM_chr1_75719709_75768679 | 75749526 | T | C | synonymous_variant | LOW | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0131 | 1 | 364 | 0.0028 | 0 | c.816 others(3): Show |
p.Val others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 9/12 | 895/2261 | 816/1266 | 272/421 | chr1 | TogoVar | ||
ACADM_chr1_75719709_75768679 | 75750501 | C | T | synonymous_variant | LOW | HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0323a0001c0005t0001g0330 | 2 | 364 | 0.0055 | 0 | c.900 others(3): Show |
p.Thr others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/12 | 979/2261 | 900/1266 | 300/421 | chr1 | TogoVar | ||
ACADM_chr1_75719709_75768679 | 75761337 | A | G | synonymous_variant | LOW | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(39): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0003a0001c0005t0001 | a0001c0002t0001g0301a0001c0002t0001g0302a0001c0002t0001g0303others(39): Show | 42 | 364 | 0.1154 | 0 | c.116 others(4): Show |
p.Val others(6): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 11/12 | 1240/2261 | 1161/1266 | 387/421 | chr1 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123034358 | A | C | splice_region_variant others(1): Show |
LOW | HG03017.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0123 | 1 | 374 | 0.0027 | 0 | c.45A others(2): Show |
p.Leu others(5): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 2/11 | 69/5848 | 45/1299 | 15/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123034481 | A | G | synonymous_variant | LOW | HG02622.hp1 HG02965.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0005a0001c0006t0018 | a0001c0006t0001g0137a0001c0006t0005g0136a0001c0006t0018g0096others(1): Show | 4 | 374 | 0.0107 | 0 | c.168 others(3): Show |
p.Thr others(5): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 2/11 | 192/5848 | 168/1299 | 56/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123041337 | C | T | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(77): Show |
a0001a0004a0005 | a0001c0002a0001c0015a0001c0017others(2): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(13): Show | a0001c0002t0002g0004a0001c0002t0002g0005a0001c0002t0002g0016others(70): Show | 80 | 374 | 0.2139 | 0 | c.639 others(3): Show |
p.His others(6): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 5/11 | 663/5848 | 639/1299 | 213/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123043150 | G | A | synonymous_variant | LOW | HG03139.hp1 | a0001 | a0001c0011 | a0001c0011t0027 | a0001c0011t0027g0212 | 1 | 374 | 0.0027 | 0 | c.786 others(3): Show |
p.Pro others(6): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 6/11 | 810/5848 | 786/1299 | 262/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123043159 | C | T | synonymous_variant | LOW | HG01433.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0148 | 1 | 374 | 0.0027 | 0 | c.795 others(3): Show |
p.Phe others(6): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 6/11 | 819/5848 | 795/1299 | 265/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123047223 | G | A | synonymous_variant | LOW | HG02129.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0014 | 1 | 374 | 0.0027 | 0 | c.915 others(3): Show |
p.Ala others(6): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 8/11 | 939/5848 | 915/1299 | 305/432 | chr10 | TogoVar | ||
ACADSB_chr10_123004006_123063290 | 123051072 | C | T | synonymous_variant | LOW | HG02572.hp2 HG02895.hp2 HG02896.hp1 |
a0001a0004 | a0001c0009a0004c0012 | a0001c0009t0005a0004c0012t0005 | a0001c0009t0005g0042a0004c0012t0005g0107 | 3 | 374 | 0.0080 | 0 | c.101 others(4): Show |
p.His others(6): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 9/11 | 1038/5848 | 1014/1299 | 338/432 | chr10 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120727126 | C | G | synonymous_variant | LOW | HG02027.hp1 HG02135.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0004 | 2 | 426 | 0.0047 | 0 | c.147 others(3): Show |
p.Ala others(5): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/10 | 207/1859 | 147/1239 | 49/412 | chr12 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120737096 | T | C | synonymous_variant | LOW | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(245): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0019others(167): Show | 248 | 426 | 0.5822 | 0 | c.321 others(3): Show |
p.Arg others(6): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 3/10 | 381/1859 | 321/1239 | 107/412 | chr12 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120737135 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(56): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0013a0001c0003t0014others(1): Show | a0001c0003t0003g0002a0001c0003t0003g0021a0001c0003t0003g0022others(36): Show | 59 | 426 | 0.1385 | 0 | c.360 others(3): Show |
p.Asn others(6): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 3/10 | 420/1859 | 360/1239 | 120/412 | chr12 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120737418 | G | A | synonymous_variant | LOW | NA18939.hp1 NA18943.hp1 NA18945.hp1 others(29): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001a0001c0005t0001g0010a0001c0005t0001g0017others(11): Show | 32 | 426 | 0.0751 | 0 | c.423 others(3): Show |
p.Thr others(6): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 4/10 | 483/1859 | 423/1239 | 141/412 | chr12 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120737880 | C | T | synonymous_variant | LOW | HG03239.hp2 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0048 | 1 | 426 | 0.0024 | 0 | c.516 others(3): Show |
p.Ala others(6): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 5/10 | 576/1859 | 516/1239 | 172/412 | chr12 | TogoVar | ||
ACADS_chr12_120720826_120745008 | 120737886 | C | T | synonymous_variant | LOW | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0040 | 2 | 426 | 0.0047 | 0 | c.522 others(3): Show |
p.Gly others(6): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 5/10 | 582/1859 | 522/1239 | 174/412 | chr12 | TogoVar |