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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA9_chr17_68969488_69065927 | 69016293 | G | A | missense_variant | MODERATE | NA19009.hp2 | a0020 | a0020c0030 | a0020c0030t0002 | a0020c0030t0002g0200 | 1 | 310 | 0.0032 | 0 | c.299 others(4): Show |
p.Ser others(7): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/39 | 3074/6377 | 2999/4875 | 1000/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69016309 | G | A | missense_variant | MODERATE | HG00733.hp1 HG03041.hp2 HG03098.hp1 others(2): Show |
a0008a0010 | a0008c0013a0008c0020a0010c0011 | a0008c0013t0003a0008c0020t0003a0010c0011t0003 | a0008c0013t0003g0057 a0008c0013t0003g0058 a0008c0020t0003g0055 others(2): Show |
5 | 310 | 0.0161 | 0 | c.298 others(4): Show |
p.Leu others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 22/39 | 3058/6377 | 2983/4875 | 995/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69017778 | C | T | missense_variant | MODERATE | NA19075.hp2 | a0022 | a0022c0025 | a0022c0025t0002 | a0022c0025t0002g0059 | 1 | 310 | 0.0032 | 0 | c.277 others(4): Show |
p.Asp others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 21/39 | 2854/6377 | 2779/4875 | 927/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69018533 | G | C | missense_variant | MODERATE | HG02451.hp1 HG03516.hp1 HG03516.hp2 |
a0013a0018a0019 | a0013c0022a0018c0019a0019c0023 | a0013c0022t0003a0018c0019t0003a0019c0023t0003 | a0013c0022t0003g0019 a0018c0019t0003g0056 a0019c0023t0003g0018 |
3 | 310 | 0.0097 | 0 | c.264 others(4): Show |
p.Leu others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 20/39 | 2722/6377 | 2647/4875 | 883/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69021789 | T | C | missense_variant | MODERATE | HG01257.hp1 HG01496.hp2 HG01952.hp2 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0081 a0007c0010t0002g0118 a0007c0010t0002g0140 others(2): Show |
5 | 310 | 0.0161 | 0 | c.235 others(4): Show |
p.Asn others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/39 | 2429/6377 | 2354/4875 | 785/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69029202 | C | T | missense_variant | MODERATE | HG02735.hp2 | a0015 | a0015c0024 | a0015c0024t0002 | a0015c0024t0002g0063 | 1 | 310 | 0.0032 | 0 | c.147 others(4): Show |
p.Ala others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 11/39 | 1546/6377 | 1471/4875 | 491/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69033857 | T | C | missense_variant | MODERATE | NA19087.hp1 | a0023 | a0023c0031 | a0023c0031t0002 | a0023c0031t0002g0231 | 1 | 310 | 0.0032 | 0 | c.114 others(4): Show |
p.Tyr others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/39 | 1220/6377 | 1145/4875 | 382/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69035316 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0004others(19): Show | a0001c0001a0001c0007a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(36): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0062 others(256): Show |
277 | 310 | 0.8935 | 0 | c.105 others(4): Show |
p.Arg others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/39 | 1133/6377 | 1058/4875 | 353/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69035396 | C | A | missense_variant | MODERATE | NA19054.hp1 | a0021 | a0021c0032 | a0021c0032t0001 | a0021c0032t0001g0221 | 1 | 310 | 0.0032 | 0 | c.978 others(3): Show |
p.Lys others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 8/39 | 1053/6377 | 978/4875 | 326/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69035739 | A | G | missense_variant | MODERATE | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(7): Show |
a0006a0008a0017others(1): Show | a0006c0009a0008c0013a0008c0020others(2): Show | a0006c0009t0005a0008c0013t0003a0008c0020t0003others(2): Show | a0006c0009t0005g0015 a0006c0009t0005g0288 a0006c0009t0005g0289 others(6): Show |
10 | 310 | 0.0323 | 0 | c.863 others(3): Show |
p.Ile others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 7/39 | 938/6377 | 863/4875 | 288/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69043504 | C | T | missense_variant | MODERATE | HG00544.hp2 HG01074.hp1 HG01109.hp2 others(31): Show |
a0004a0005a0009 | a0004c0005a0005c0006a0009c0012 | a0004c0005t0003a0005c0006t0001a0009c0012t0001 | a0004c0005t0003g0001 a0004c0005t0003g0263 a0004c0005t0003g0264 others(25): Show |
34 | 310 | 0.1097 | 0 | c.785 others(3): Show |
p.Arg others(6): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/39 | 860/6377 | 785/4875 | 262/1624 | chr17 | TogoVar | |||
ABCA9_chr17_68969488_69065927 | 69049311 | G | T | missense_variant | MODERATE | HG02145.hp1 HG02258.hp2 HG02622.hp1 others(2): Show |
a0010a0011a0012others(1): Show | a0010c0011a0011c0014a0012c0016others(1): Show | a0010c0011t0003a0011c0014t0003a0012c0016t0002others(1): Show | a0010c0011t0003g0049 a0010c0011t0003g0050 a0011c0014t0003g0051 others(2): Show |
5 | 310 | 0.0161 | 0 | c.276 others(3): Show |
p.Asn others(5): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/39 | 351/6377 | 276/4875 | 92/1624 | chr17 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229518306 | T | C | missense_variant | MODERATE | HG00738.hp2 HG01515.hp1 HG01516.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008 a0005c0006t0001g0213 |
3 | 282 | 0.0106 | 0 | c.209 others(4): Show |
p.Asn others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 13/13 | 2145/3869 | 2090/2217 | 697/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229530211 | C | T | missense_variant | MODERATE | HG01256.hp1 HG01258.hp1 HG02895.hp2 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0059 a0006c0007t0002g0060 a0006c0007t0002g0063 |
3 | 282 | 0.0106 | 0 | c.163 others(4): Show |
p.Asp others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/13 | 1688/3869 | 1633/2217 | 545/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229531637 | G | T | missense_variant others(1): Show |
MODERATE | HG02280.hp1 HG03098.hp1 |
a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0026 a0007c0008t0003g0027 |
2 | 282 | 0.0071 | 0 | c.143 others(4): Show |
p.Asn others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 7/13 | 1489/3869 | 1434/2217 | 478/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229539532 | C | T | missense_variant | MODERATE | HG02040.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0154 | 1 | 282 | 0.0035 | 0 | c.126 others(4): Show |
p.Met others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/13 | 1318/3869 | 1263/2217 | 421/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229558205 | C | A | missense_variant | MODERATE | HG01099.hp1 HG01167.hp1 HG01358.hp2 others(7): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0002 | a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0264 others(7): Show |
10 | 282 | 0.0355 | 0 | c.448 others(3): Show |
p.Ala others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/13 | 503/3869 | 448/2217 | 150/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229558294 | C | A | missense_variant | MODERATE | HG01099.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0271 | 1 | 282 | 0.0035 | 0 | c.359 others(3): Show |
p.Gly others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/13 | 414/3869 | 359/2217 | 120/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229558297 | G | A | missense_variant | MODERATE | NA19010.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0272 | 1 | 282 | 0.0035 | 0 | c.356 others(3): Show |
p.Pro others(6): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/13 | 411/3869 | 356/2217 | 119/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229558402 | A | G | missense_variant | MODERATE | HG01243.hp1 HG01516.hp2 HG02040.hp1 others(16): Show |
a0002a0007 | a0002c0003a0002c0009a0002c0010others(1): Show | a0002c0003t0003a0002c0003t0007a0002c0009t0003others(2): Show | a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 others(16): Show |
19 | 282 | 0.0674 | 0 | c.251 others(3): Show |
p.Leu others(5): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/13 | 306/3869 | 251/2217 | 84/738 | chr1 | TogoVar | |||
ABCB10_chr1_229511582_229563707 | 229558405 | A | C | missense_variant | MODERATE | HG01106.hp1 HG02451.hp1 HG03130.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0010 a0004c0005t0005g0011 a0004c0005t0005g0012 others(3): Show |
6 | 282 | 0.0213 | 0 | c.248 others(3): Show |
p.Val others(5): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/13 | 303/3869 | 248/2217 | 83/738 | chr1 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168927218 | C | T | missense_variant | MODERATE | HG02145.hp1 HG02258.hp2 HG02572.hp2 others(2): Show |
a0007a0009a0012 | a0007c0037a0007c0047a0009c0044others(2): Show | a0007c0037t0007a0007c0047t0007a0009c0044t0007others(2): Show | a0007c0037t0007g0189 a0007c0047t0007g0090 a0009c0044t0007g0087 others(2): Show |
5 | 304 | 0.0164 | 0 | c.355 others(4): Show |
p.Glu others(7): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 26/28 | 3683/6934 | 3556/3966 | 1186/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168944621 | G | A | missense_variant | MODERATE | HG00558.hp1 NA18978.hp2 NA19087.hp2 |
a0006a0015 | a0006c0032a0006c0045a0015c0029 | a0006c0032t0001a0006c0045t0001a0015c0029t0001 | a0006c0032t0001g0201 a0006c0045t0001g0059 a0015c0029t0001g0217 |
3 | 304 | 0.0099 | 0 | c.259 others(4): Show |
p.Ala others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/28 | 2721/6934 | 2594/3966 | 865/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168964234 | T | C | missense_variant | MODERATE | NA18994.hp2 | a0016 | a0016c0040 | a0016c0040t0001 | a0016c0040t0001g0258 | 1 | 304 | 0.0033 | 0 | c.215 others(4): Show |
p.His others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 18/28 | 2277/6934 | 2150/3966 | 717/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168964283 | A | G | missense_variant | MODERATE | HG02559.hp2 | a0011 | a0011c0042 | a0011c0042t0005 | a0011c0042t0005g0081 | 1 | 304 | 0.0033 | 0 | c.210 others(4): Show |
p.Ser others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 18/28 | 2228/6934 | 2101/3966 | 701/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168968466 | G | A | missense_variant | MODERATE | HG04115.hp1 | a0013 | a0013c0041 | a0013c0041t0001 | a0013c0041t0001g0178 | 1 | 304 | 0.0033 | 0 | c.203 others(4): Show |
p.Ala others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/28 | 2163/6934 | 2036/3966 | 679/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168968473 | T | C | missense_variant | MODERATE | HG00323.hp2 HG00733.hp2 HG01496.hp2 others(23): Show |
a0003a0004a0011others(1): Show | a0003c0013a0003c0014a0003c0017others(12): Show | a0003c0013t0001a0003c0014t0005a0003c0014t0006others(18): Show | a0003c0013t0001g0013 a0003c0013t0001g0014 a0003c0013t0001g0089 others(23): Show |
26 | 304 | 0.0855 | 0 | c.202 others(4): Show |
p.Met others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/28 | 2156/6934 | 2029/3966 | 677/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168970082 | T | C | missense_variant | MODERATE | HG02129.hp2 HG03017.hp2 HG03490.hp1 others(3): Show |
a0005 | a0005c0011a0005c0021a0005c0068 | a0005c0011t0002a0005c0021t0001a0005c0068t0001 | a0005c0011t0002g0120 a0005c0011t0002g0122 a0005c0011t0002g0157 others(3): Show |
6 | 304 | 0.0197 | 0 | c.177 others(4): Show |
p.Asn others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 15/28 | 1899/6934 | 1772/3966 | 591/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168973818 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(181): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0002a0001c0005others(32): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(58): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(179): Show |
184 | 304 | 0.6053 | 0 | c.133 others(4): Show |
p.Val others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 13/28 | 1458/6934 | 1331/3966 | 444/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168990813 | C | T | missense_variant | MODERATE | NA18953.hp2 | a0014 | a0014c0034 | a0014c0034t0001 | a0014c0034t0001g0286 | 1 | 304 | 0.0033 | 0 | c.896 others(3): Show |
p.Arg others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 9/28 | 1023/6934 | 896/3966 | 299/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 168993878 | T | C | missense_variant | MODERATE | HG02258.hp1 HG03130.hp1 |
a0008 | a0008c0059a0008c0060 | a0008c0059t0004a0008c0060t0006 | a0008c0059t0004g0193 a0008c0060t0006g0192 |
2 | 304 | 0.0066 | 0 | c.616 others(3): Show |
p.Ile others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 8/28 | 743/6934 | 616/3966 | 206/1321 | chr2 | TogoVar | |||
ABCB11_chr2_168915781_169036324 | 169013278 | C | T | missense_variant | MODERATE | HG01361.hp1 | a0010 | a0010c0035 | a0010c0035t0001 | a0010c0035t0001g0046 | 1 | 304 | 0.0033 | 0 | c.383 others(3): Show |
p.Arg others(6): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/28 | 510/6934 | 383/3966 | 128/1321 | chr2 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87504251 | G | A | missense_variant | MODERATE | HG02970.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0307 | 1 | 350 | 0.0029 | 0 | c.383 others(4): Show |
p.Arg others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 28/28 | 3971/5205 | 3835/3843 | 1279/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87504335 | C | T | missense_variant | MODERATE | HG01261.hp2 HG01928.hp1 NA18955.hp1 others(1): Show |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0187 a0004c0008t0001g0199 a0004c0008t0001g0215 others(1): Show |
4 | 350 | 0.0114 | 0 | c.375 others(4): Show |
p.Val others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 28/28 | 3887/5205 | 3751/3843 | 1251/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87509343 | A | T | missense_variant | MODERATE | HG00639.hp1 HG02109.hp1 HG02572.hp1 others(2): Show |
a0003 | a0003c0007 | a0003c0007t0001a0003c0007t0003a0003c0007t0008 | a0003c0007t0001g0102 a0003c0007t0001g0258 a0003c0007t0003g0033 others(2): Show |
5 | 350 | 0.0143 | 0 | c.342 others(4): Show |
p.Ser others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 26/28 | 3557/5205 | 3421/3843 | 1141/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87509442 | A | G | missense_variant | MODERATE | HG03098.hp2 | a0013 | a0013c0026 | a0013c0026t0014 | a0013c0026t0014g0010 | 1 | 350 | 0.0029 | 0 | c.332 others(4): Show |
p.Trp others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 26/28 | 3458/5205 | 3322/3843 | 1108/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87509444 | T | G | missense_variant | MODERATE | HG01258.hp2 | a0010 | a0010c0028 | a0010c0028t0001 | a0010c0028t0001g0146 | 1 | 350 | 0.0029 | 0 | c.332 others(4): Show |
p.Gln others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 26/28 | 3456/5205 | 3320/3843 | 1107/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87515251 | C | T | missense_variant | MODERATE | HG02145.hp1 HG03195.hp1 |
a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0189 a0008c0013t0001g0262 |
2 | 350 | 0.0057 | 0 | c.326 others(4): Show |
p.Asp others(7): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 25/28 | 3398/5205 | 3262/3843 | 1088/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87519444 | T | G | missense_variant | MODERATE | HG01496.hp1 | a0011 | a0011c0029 | a0011c0029t0002 | a0011c0029t0002g0130 | 1 | 350 | 0.0029 | 0 | c.280 others(4): Show |
p.Ile others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/28 | 2945/5205 | 2809/3843 | 937/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87531302 | A | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(233): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0051 others(225): Show |
236 | 314 | 0.7516 | 0 | c.267 others(4): Show |
p.Ser others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/28 | 2813/5205 | 2677/3843 | 893/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87531302 | A | T | missense_variant | MODERATE | HG00423.hp2 HG01123.hp2 HG01192.hp1 others(33): Show |
a0001a0018 | a0001c0004a0001c0020a0018c0016 | a0001c0004t0001a0001c0004t0002a0001c0004t0005others(4): Show | a0001c0004t0001g0043 a0001c0004t0001g0071 a0001c0004t0002g0041 others(33): Show |
36 | 114 | 0.3158 | 0 | c.267 others(4): Show |
p.Ser others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/28 | 2813/5205 | 2677/3843 | 893/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87531358 | A | G | missense_variant | MODERATE | HG03516.hp1 | a0014 | a0014c0019 | a0014c0019t0009 | a0014c0019t0009g0237 | 1 | 350 | 0.0029 | 0 | c.262 others(4): Show |
p.Val others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/28 | 2757/5205 | 2621/3843 | 874/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87539281 | G | C | missense_variant | MODERATE | NA18612.hp2 NA19011.hp1 |
a0009 | a0009c0030a0009c0031 | a0009c0030t0001a0009c0031t0002 | a0009c0030t0001g0242 a0009c0031t0002g0241 |
2 | 350 | 0.0057 | 0 | c.238 others(4): Show |
p.Ser others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 19/28 | 2520/5205 | 2384/3843 | 795/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87544882 | G | A | missense_variant | MODERATE | HG03098.hp2 | a0013 | a0013c0026 | a0013c0026t0014 | a0013c0026t0014g0010 | 1 | 350 | 0.0029 | 0 | c.200 others(4): Show |
p.Arg others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 16/28 | 2141/5205 | 2005/3843 | 669/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87545988 | G | A | missense_variant | MODERATE | HG04184.hp2 | a0015 | a0015c0027 | a0015c0027t0001 | a0015c0027t0001g0280 | 1 | 350 | 0.0029 | 0 | c.176 others(4): Show |
p.Arg others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 15/28 | 1898/5205 | 1762/3843 | 588/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87550493 | C | T | missense_variant | MODERATE | HG00741.hp1 HG01106.hp1 HG01109.hp1 |
a0005 | a0005c0012a0005c0017 | a0005c0012t0001a0005c0017t0002 | a0005c0012t0001g0271 a0005c0012t0001g0273 a0005c0017t0002g0272 |
3 | 350 | 0.0086 | 0 | c.119 others(4): Show |
p.Ser others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 11/28 | 1335/5205 | 1199/3843 | 400/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87561309 | T | C | missense_variant | MODERATE | HG02647.hp2 HG03540.hp2 HG06807.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0092 a0006c0011t0001g0093 a0006c0011t0001g0094 |
3 | 350 | 0.0086 | 0 | c.781 others(3): Show |
p.Ile others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 8/28 | 917/5205 | 781/3843 | 261/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87570185 | C | T | missense_variant | MODERATE | NA19091.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0040 | 1 | 350 | 0.0029 | 0 | c.325 others(3): Show |
p.Glu others(6): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/28 | 461/5205 | 325/3843 | 109/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87585654 | C | A | missense_variant | MODERATE | NA19060.hp1 | a0017 | a0017c0032 | a0017c0032t0001 | a0017c0032t0001g0110 | 1 | 350 | 0.0029 | 0 | c.144 others(3): Show |
p.Lys others(5): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 4/28 | 280/5205 | 144/3843 | 48/1280 | chr7 | TogoVar | |||
ABCB1_chr7_87498017_87605884 | 87600124 | T | C | missense_variant | MODERATE | HG01255.hp1 HG03239.hp1 |
a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0339 a0007c0014t0001g0340 |
2 | 350 | 0.0057 | 0 | c.61A others(2): Show |
p.Asn others(5): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 2/28 | 197/5205 | 61/3843 | 21/1280 | chr7 | TogoVar |