view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215012125 | G | A | missense_variant | MODERATE | NA20905.hp2 | a0021 | a0021c0052 | a0021c0052t0001 | a0021c0052t0001g0128 | 1 | 196 | 0.0051 | 0 | c.196 others(4): Show |
p.Pro others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 16/53 | 2385/9298 | 1967/7788 | 656/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215018025 | G | T | missense_variant | MODERATE | HG01346.hp1 | a0013 | a0013c0030 | a0013c0030t0001 | a0013c0030t0001g0047 | 1 | 196 | 0.0051 | 0 | c.176 others(4): Show |
p.Pro others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/53 | 2183/9298 | 1765/7788 | 589/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215019344 | T | C | missense_variant | MODERATE | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show |
a0003a0006 | a0003c0014a0003c0020a0003c0065others(5): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(8): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show |
13 | 196 | 0.0663 | 0 | c.164 others(4): Show |
p.Glu others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 13/53 | 2067/9298 | 1649/7788 | 550/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215025738 | A | G | missense_variant | MODERATE | HG01070.hp2 HG01071.hp1 |
a0008 | a0008c0026 | a0008c0026t0003 | a0008c0026t0003g0053 a0008c0026t0003g0056 |
2 | 196 | 0.0102 | 0 | c.122 others(4): Show |
p.Ser others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/53 | 1640/9298 | 1222/7788 | 408/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215036964 | G | A | missense_variant | MODERATE | NA19070.hp2 | a0020 | a0020c0053 | a0020c0053t0002 | a0020c0053t0002g0129 | 1 | 196 | 0.0051 | 0 | c.974 others(3): Show |
p.Ser others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 8/53 | 1392/9298 | 974/7788 | 325/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215045850 | G | C | missense_variant | MODERATE | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show |
a0003a0007 | a0003c0014a0003c0020a0003c0065others(3): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(6): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show |
13 | 196 | 0.0663 | 0 | c.859 others(3): Show |
p.Arg others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/53 | 1277/9298 | 859/7788 | 287/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215045888 | T | C | missense_variant | MODERATE | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show |
a0003a0007 | a0003c0014a0003c0020a0003c0065others(3): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(6): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show |
13 | 196 | 0.0663 | 0 | c.821 others(3): Show |
p.Gln others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/53 | 1239/9298 | 821/7788 | 274/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215046000 | T | G | missense_variant | MODERATE | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(50): Show |
53 | 196 | 0.2704 | 0 | c.709 others(3): Show |
p.Asn others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/53 | 1127/9298 | 709/7788 | 237/2595 | chr2 | TogoVar | |||
ABCA12_chr2_214926542_215143626 | 215049722 | C | G | missense_variant | MODERATE | HG01243.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
a0003a0004a0006others(2): Show | a0003c0014a0003c0020a0003c0065others(11): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(16): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(21): Show |
24 | 196 | 0.1224 | 0 | c.597 others(3): Show |
p.Trp others(6): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/53 | 1015/9298 | 597/7788 | 199/2595 | chr2 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48240954 | G | A | missense_variant | MODERATE | NA20129.hp2 | a0086 | a0086c0037 | a0086c0037t0005 | a0086c0037t0005g0096 | 1 | 176 | 0.0057 | 0 | c.115 others(4): Show |
p.Glu others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 10/62 | 1176/17188 | 1150/15177 | 384/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48244587 | T | A | missense_variant | MODERATE | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(2): Show |
a0023a0024a0043 | a0023c0015a0024c0014a0043c0039 | a0023c0015t0004a0024c0014t0005a0024c0014t0010others(1): Show | a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0005g0119 others(2): Show |
5 | 176 | 0.0284 | 0 | c.127 others(4): Show |
p.Leu others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 11/62 | 1300/17188 | 1274/15177 | 425/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48245877 | T | A | missense_variant | MODERATE | HG01952.hp1 | a0037 | a0037c0042 | a0037c0042t0004 | a0037c0042t0004g0074 | 1 | 176 | 0.0057 | 0 | c.150 others(4): Show |
p.Asn others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 13/62 | 1532/17188 | 1506/15177 | 502/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48245888 | C | T | missense_variant | MODERATE | HG00544.hp1 HG01070.hp1 HG01074.hp1 others(62): Show |
a0001a0007a0008others(22): Show | a0001c0001a0001c0010a0001c0103others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(62): Show |
65 | 176 | 0.3693 | 0 | c.151 others(4): Show |
p.Pro others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 13/62 | 1543/17188 | 1517/15177 | 506/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48248243 | G | A | missense_variant | MODERATE | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(35): Show |
a0009a0010a0013others(21): Show | a0009c0017a0009c0044a0009c0046others(26): Show | a0009c0017t0002a0009c0017t0003a0009c0044t0001others(30): Show | a0009c0017t0002g0052 a0009c0017t0003g0068 a0009c0044t0001g0100 others(35): Show |
38 | 176 | 0.2159 | 0 | c.166 others(4): Show |
p.Arg others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 14/62 | 1690/17188 | 1664/15177 | 555/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48249300 | G | A | missense_variant | MODERATE | HG02895.hp2 | a0059 | a0059c0059 | a0059c0059t0003 | a0059c0059t0003g0172 | 1 | 176 | 0.0057 | 0 | c.195 others(4): Show |
p.Glu others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/62 | 1980/17188 | 1954/15177 | 652/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48271888 | A | C | missense_variant | MODERATE | NA19062.hp1 | a0084 | a0084c0058 | a0084c0058t0001 | a0084c0058t0001g0092 | 1 | 176 | 0.0057 | 0 | c.222 others(4): Show |
p.Glu others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2248/17188 | 2222/15177 | 741/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48271966 | T | G | missense_variant | MODERATE | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(34): Show |
a0003a0009a0010others(15): Show | a0003c0003a0003c0004a0009c0017others(21): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(26): Show | a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(34): Show |
37 | 176 | 0.2102 | 0 | c.230 others(4): Show |
p.Ile others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2326/17188 | 2300/15177 | 767/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272005 | G | A | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.233 others(4): Show |
p.Ser others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2365/17188 | 2339/15177 | 780/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272061 | G | A | missense_variant | MODERATE | HG00408.hp1 HG01074.hp1 NA18956.hp2 others(1): Show |
a0028a0031a0034 | a0028c0028a0031c0061a0034c0093 | a0028c0028t0003a0031c0061t0004a0034c0093t0002 | a0028c0028t0003g0005 a0028c0028t0003g0011 a0031c0061t0004g0013 others(1): Show |
4 | 176 | 0.0227 | 0 | c.239 others(4): Show |
p.Glu others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2421/17188 | 2395/15177 | 799/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272206 | G | T | missense_variant | MODERATE | HG00544.hp2 NA18953.hp1 |
a0032a0078 | a0032c0051a0078c0052 | a0032c0051t0001a0078c0052t0001 | a0032c0051t0001g0026 a0078c0052t0001g0101 |
2 | 176 | 0.0114 | 0 | c.254 others(4): Show |
p.Arg others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2566/17188 | 2540/15177 | 847/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272287 | C | T | missense_variant | MODERATE | HG02895.hp1 HG02897.hp1 |
a0026 | a0026c0027 | a0026c0027t0001a0026c0027t0006 | a0026c0027t0001g0161 a0026c0027t0006g0162 |
2 | 176 | 0.0114 | 0 | c.262 others(4): Show |
p.Ser others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2647/17188 | 2621/15177 | 874/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272430 | G | A | missense_variant | MODERATE | HG01243.hp2 HG02055.hp1 HG02809.hp1 others(5): Show |
a0013a0020a0057others(2): Show | a0013c0006a0020c0020a0057c0054others(2): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(3): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(5): Show |
8 | 176 | 0.0455 | 0 | c.276 others(4): Show |
p.Ala others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2790/17188 | 2764/15177 | 922/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272487 | G | C | missense_variant | MODERATE | HG01070.hp1 NA20805.hp2 |
a0017 | a0017c0094a0017c0095 | a0017c0094t0002a0017c0095t0002 | a0017c0094t0002g0079 a0017c0095t0002g0043 |
2 | 176 | 0.0114 | 0 | c.282 others(4): Show |
p.Val others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 2847/17188 | 2821/15177 | 941/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272835 | G | T | missense_variant | MODERATE | HG02132.hp2 | a0044 | a0044c0114 | a0044c0114t0004 | a0044c0114t0004g0065 | 1 | 176 | 0.0057 | 0 | c.316 others(4): Show |
p.Val others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 3195/17188 | 3169/15177 | 1057/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48272893 | G | A | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.322 others(4): Show |
p.Arg others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 3253/17188 | 3227/15177 | 1076/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48273558 | A | G | missense_variant | MODERATE | HG01243.hp2 HG02055.hp1 HG02258.hp2 others(9): Show |
a0013a0020a0045others(6): Show | a0013c0006a0020c0020a0045c0041others(6): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(7): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(9): Show |
12 | 176 | 0.0682 | 0 | c.389 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 3918/17188 | 3892/15177 | 1298/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48273659 | A | G | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.399 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4019/17188 | 3993/15177 | 1331/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48273702 | T | G | missense_variant | MODERATE | HG00544.hp2 | a0032 | a0032c0051 | a0032c0051t0001 | a0032c0051t0001g0026 | 1 | 176 | 0.0057 | 0 | c.403 others(4): Show |
p.Cys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4062/17188 | 4036/15177 | 1346/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48273913 | A | G | missense_variant | MODERATE | HG00735.hp1 HG00738.hp2 HG01123.hp2 others(20): Show |
a0004a0018a0025others(12): Show | a0004c0008a0004c0009a0004c0079others(15): Show | a0004c0008t0001a0004c0008t0004a0004c0008t0005others(19): Show | a0004c0008t0001g0148 a0004c0008t0004g0166 a0004c0008t0005g0168 others(20): Show |
23 | 176 | 0.1307 | 0 | c.424 others(4): Show |
p.His others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4273/17188 | 4247/15177 | 1416/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48273966 | A | G | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.430 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4326/17188 | 4300/15177 | 1434/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48274207 | C | T | missense_variant | MODERATE | NA19007.hp2 | a0083 | a0083c0050 | a0083c0050t0004 | a0083c0050t0004g0103 | 1 | 176 | 0.0057 | 0 | c.454 others(4): Show |
p.Ala others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4567/17188 | 4541/15177 | 1514/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48274284 | T | C | missense_variant | MODERATE | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(24): Show |
a0002a0005a0006others(7): Show | a0002c0002a0002c0022a0002c0065others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(17): Show | a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0167 others(24): Show |
27 | 176 | 0.1534 | 0 | c.461 others(4): Show |
p.Phe others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4644/17188 | 4618/15177 | 1540/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48274330 | A | G | missense_variant | MODERATE | HG02886.hp2 | a0058 | a0058c0049 | a0058c0049t0001 | a0058c0049t0001g0086 | 1 | 176 | 0.0057 | 0 | c.466 others(4): Show |
p.Gln others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 4690/17188 | 4664/15177 | 1555/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48275332 | T | A | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.566 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 5692/17188 | 5666/15177 | 1889/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48275763 | A | G | missense_variant | MODERATE | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(8): Show |
a0003a0027a0041 | a0003c0003a0003c0004a0027c0021others(1): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(3): Show | a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(8): Show |
11 | 176 | 0.0625 | 0 | c.609 others(4): Show |
p.Asn others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6123/17188 | 6097/15177 | 2033/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48276127 | C | T | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.646 others(4): Show |
p.Ser others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6487/17188 | 6461/15177 | 2154/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48276199 | C | A | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(150): Show |
a0001a0002a0003others(69): Show | a0001c0001a0001c0010a0001c0103others(92): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(112): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(150): Show |
153 | 176 | 0.8693 | 0 | c.653 others(4): Show |
p.Ala others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6559/17188 | 6533/15177 | 2178/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48276228 | C | T | missense_variant | MODERATE | NA18979.hp1 | a0081 | a0081c0113 | a0081c0113t0003 | a0081c0113t0003g0097 | 1 | 176 | 0.0057 | 0 | c.656 others(4): Show |
p.His others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6588/17188 | 6562/15177 | 2188/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48276301 | T | C | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.663 others(4): Show |
p.Leu others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6661/17188 | 6635/15177 | 2212/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48276333 | G | C | missense_variant | MODERATE | HG01123.hp2 HG01243.hp1 NA20805.hp1 |
a0018a0035 | a0018c0026a0035c0077 | a0018c0026t0001a0035c0077t0003 | a0018c0026t0001g0057 a0018c0026t0001g0081 a0035c0077t0003g0046 |
3 | 176 | 0.0170 | 0 | c.666 others(4): Show |
p.Ala others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 17/62 | 6693/17188 | 6667/15177 | 2223/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48278111 | A | C | missense_variant | MODERATE | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(24): Show |
a0002a0005a0006others(7): Show | a0002c0002a0002c0022a0002c0065others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(17): Show | a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0167 others(24): Show |
27 | 176 | 0.1534 | 0 | c.691 others(4): Show |
p.Lys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 6943/17188 | 6917/15177 | 2306/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48278239 | G | A | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.704 others(4): Show |
p.Gly others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7071/17188 | 7045/15177 | 2349/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48278501 | A | G | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.730 others(4): Show |
p.Lys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7333/17188 | 7307/15177 | 2436/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48278629 | G | A | missense_variant | MODERATE | NA18998.hp1 | a0082 | a0082c0062 | a0082c0062t0003 | a0082c0062t0003g0143 | 1 | 176 | 0.0057 | 0 | c.743 others(4): Show |
p.Val others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7461/17188 | 7435/15177 | 2479/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48278803 | T | G | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.760 others(4): Show |
p.Ser others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7635/17188 | 7609/15177 | 2537/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48279016 | A | G | missense_variant | MODERATE | HG02083.hp2 | a0042 | a0042c0112 | a0042c0112t0011 | a0042c0112t0011g0114 | 1 | 176 | 0.0057 | 0 | c.782 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 7848/17188 | 7822/15177 | 2608/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48279214 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(152): Show |
a0001a0002a0003others(71): Show | a0001c0001a0001c0010a0001c0103others(95): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(115): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(152): Show |
155 | 176 | 0.8807 | 0 | c.802 others(4): Show |
p.Arg others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 8046/17188 | 8020/15177 | 2674/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48279363 | A | G | missense_variant | MODERATE | HG02897.hp2 NA18906.hp1 |
a0060a0076 | a0060c0111a0076c0110 | a0060c0111t0006a0076c0110t0007 | a0060c0111t0006g0031 a0076c0110t0007g0126 |
2 | 176 | 0.0114 | 0 | c.816 others(4): Show |
p.Ile others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 8195/17188 | 8169/15177 | 2723/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48279710 | C | G | missense_variant | MODERATE | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(2): Show |
a0023a0024a0043 | a0023c0015a0024c0014a0043c0039 | a0023c0015t0004a0024c0014t0005a0024c0014t0010others(1): Show | a0023c0015t0004g0173 a0023c0015t0004g0176 a0024c0014t0005g0119 others(2): Show |
5 | 176 | 0.0284 | 0 | c.851 others(4): Show |
p.Thr others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 8542/17188 | 8516/15177 | 2839/5058 | chr7 | TogoVar | |||
ABCA13_chr7_48166458_48652497 | 48279806 | A | C | missense_variant | MODERATE | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | 0 | c.861 others(4): Show |
p.Lys others(7): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/62 | 8638/17188 | 8612/15177 | 2871/5058 | chr7 | TogoVar |