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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPG_chr2_232401844_232415714 | 232409766 | G | C | missense_variant | MODERATE | HG00544.hp2 HG00558.hp1 HG00738.hp2 others(53): Show |
a0005a0008 | a0005c0005a0005c0006a0008c0010 | a0005c0005t0001a0005c0005t0007a0005c0006t0001others(2): Show | a0005c0005t0001g0001a0005c0005t0001g0003a0005c0005t0001g0015others(4): Show | 56 | 434 | 0.1290 | 0 | c.149 others(4): Show |
p.Arg others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 11/11 | 1544/2492 | 1493/1599 | 498/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232409799 | C | G | missense_variant | MODERATE | HG00544.hp2 HG00558.hp1 HG00738.hp2 others(56): Show |
a0005a0006 | a0005c0005a0005c0006a0006c0007others(1): Show | a0005c0005t0001a0005c0005t0007a0005c0006t0001others(3): Show | a0005c0005t0001g0001a0005c0005t0001g0003a0005c0005t0001g0015others(6): Show | 59 | 434 | 0.1359 | 0 | c.152 others(4): Show |
p.Pro others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 11/11 | 1577/2492 | 1526/1599 | 509/532 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232456257 | G | A | missense_variant | MODERATE | HG03098.hp2 HG03209.hp1 NA19078.hp2 others(1): Show |
a0005a0006a0007others(1): Show | a0005c0010a0006c0007a0007c0009others(1): Show | a0005c0010t0010a0006c0007t0010a0007c0009t0014others(1): Show | a0005c0010t0010g0010a0006c0007t0010g0010a0007c0009t0014g0010others(1): Show | 4 | 446 | 0.0090 | 0 | c.58G others(2): Show |
p.Val others(5): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 1/11 | 105/3241 | 58/1587 | 20/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232456379 | G | T | missense_variant | MODERATE | HG03098.hp2 | a0005 | a0005c0010 | a0005c0010t0010 | a0005c0010t0010g0010 | 1 | 446 | 0.0022 | 0 | c.98G others(2): Show |
p.Arg others(5): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 2/11 | 145/3241 | 98/1587 | 33/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232456669 | C | T | missense_variant | MODERATE | HG02280.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0001 | 1 | 446 | 0.0022 | 0 | c.274 others(3): Show |
p.Arg others(5): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 3/11 | 321/3241 | 274/1587 | 92/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457029 | G | A | missense_variant | MODERATE | HG03098.hp2 HG03209.hp1 NA21309.hp1 |
a0005a0006a0007 | a0005c0010a0006c0007a0007c0009 | a0005c0010t0010a0006c0007t0010a0007c0009t0014 | a0005c0010t0010g0010a0006c0007t0010g0010a0007c0009t0014g0010 | 3 | 446 | 0.0067 | 0 | c.431 others(3): Show |
p.Arg others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4/11 | 478/3241 | 431/1587 | 144/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457036 | T | A | missense_variant | MODERATE | HG02809.hp1 HG02818.hp1 HG06807.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0001 | 4 | 446 | 0.0090 | 0 | c.438 others(3): Show |
p.Asn others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4/11 | 485/3241 | 438/1587 | 146/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457206 | A | G | missense_variant | MODERATE | NA18940.hp1 NA18975.hp2 NA19005.hp2 others(3): Show |
a0002a0010 | a0002c0005a0010c0014 | a0002c0005t0001a0010c0014t0001 | a0002c0005t0001g0001a0010c0014t0001g0001 | 6 | 446 | 0.0135 | 0 | c.532 others(3): Show |
p.Thr others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 5/11 | 579/3241 | 532/1587 | 178/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457212 | G | A | missense_variant | MODERATE | HG04115.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0001 | 1 | 446 | 0.0022 | 0 | c.538 others(3): Show |
p.Ala others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 5/11 | 585/3241 | 538/1587 | 180/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457272 | G | A | missense_variant | MODERATE | HG02040.hp1 HG02523.hp1 NA18984.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0009 | 5 | 446 | 0.0112 | 0 | c.598 others(3): Show |
p.Glu others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 5/11 | 645/3241 | 598/1587 | 200/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457294 | C | T | missense_variant | MODERATE | HG03098.hp2 NA21309.hp1 |
a0005a0006 | a0005c0010a0006c0007 | a0005c0010t0010a0006c0007t0010 | a0005c0010t0010g0010a0006c0007t0010g0010 | 2 | 446 | 0.0045 | 0 | c.620 others(3): Show |
p.Thr others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 5/11 | 667/3241 | 620/1587 | 207/528 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232459138 | G | T | missense_variant | MODERATE | NA19005.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0001 | 1 | 446 | 0.0022 | 0 | c.157 others(4): Show |
p.Ala others(6): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 11/11 | 1626/3241 | 1579/1587 | 527/528 | chr2 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112423991 | A | G | missense_variant | MODERATE | HG00280.hp2 HG00741.hp1 HG01070.hp2 others(21): Show |
a0003a0007a0008others(1): Show | a0003c0003a0003c0013a0003c0014others(3): Show | a0003c0003t0005a0003c0013t0001a0003c0013t0004others(4): Show | a0003c0003t0005g0003a0003c0003t0005g0079a0003c0003t0005g0080others(20): Show | 24 | 306 | 0.0784 | 0 | c.523 others(3): Show |
p.Asn others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 6/16 | 776/5399 | 523/3735 | 175/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112425690 | T | G | missense_variant | MODERATE | HG03195.hp1 NA20129.hp1 |
a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0009a0007c0017t0001g0127 | 2 | 306 | 0.0065 | 0 | c.561 others(3): Show |
p.Ser others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 7/16 | 814/5399 | 561/3735 | 187/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112425719 | T | C | missense_variant | MODERATE | NA18942.hp1 | a0023 | a0023c0019 | a0023c0019t0004 | a0023c0019t0004g0076 | 1 | 306 | 0.0033 | 0 | c.590 others(3): Show |
p.Ile others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 7/16 | 843/5399 | 590/3735 | 197/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112427597 | G | A | missense_variant | MODERATE | HG02602.hp1 | a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0187 | 1 | 306 | 0.0033 | 0 | c.727 others(3): Show |
p.Ala others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 9/16 | 980/5399 | 727/3735 | 243/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112430919 | A | G | missense_variant | MODERATE | HG01074.hp2 HG01361.hp2 HG02486.hp1 others(1): Show |
a0006a0010 | a0006c0012a0010c0034 | a0006c0012t0011a0010c0034t0002 | a0006c0012t0011g0012a0006c0012t0011g0188a0006c0012t0011g0271others(1): Show | 4 | 306 | 0.0131 | 0 | c.137 others(4): Show |
p.Thr others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 1625/5399 | 1372/3735 | 458/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431241 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
a0001a0003a0007others(10): Show | a0001c0001a0001c0004a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(206): Show | 211 | 306 | 0.6895 | 0 | c.169 others(4): Show |
p.Gly others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 1947/5399 | 1694/3735 | 565/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431472 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0003a0005others(13): Show | a0001c0001a0001c0004a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(216): Show | 221 | 306 | 0.7222 | 0 | c.192 others(4): Show |
p.His others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2178/5399 | 1925/3735 | 642/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431488 | T | G | missense_variant | MODERATE | HG03486.hp1 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0006 | 1 | 306 | 0.0033 | 0 | c.194 others(4): Show |
p.Asp others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2194/5399 | 1941/3735 | 647/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431526 | C | T | missense_variant | MODERATE | NA18991.hp1 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0178 | 1 | 306 | 0.0033 | 0 | c.197 others(4): Show |
p.Pro others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2232/5399 | 1979/3735 | 660/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431676 | C | T | missense_variant | MODERATE | HG01074.hp2 HG01361.hp2 NA18906.hp1 others(1): Show |
a0006a0009 | a0006c0012a0009c0036 | a0006c0012t0011a0009c0036t0011 | a0006c0012t0011g0012a0006c0012t0011g0188a0006c0012t0011g0271others(1): Show | 4 | 306 | 0.0131 | 0 | c.212 others(4): Show |
p.Ser others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2382/5399 | 2129/3735 | 710/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431743 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
a0001a0003a0007others(10): Show | a0001c0001a0001c0004a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(206): Show | 211 | 306 | 0.6895 | 0 | c.219 others(4): Show |
p.Met others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2449/5399 | 2196/3735 | 732/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112431799 | C | T | missense_variant | MODERATE | NA21309.hp2 | a0019 | a0019c0033 | a0019c0033t0002 | a0019c0033t0002g0200 | 1 | 306 | 0.0033 | 0 | c.225 others(4): Show |
p.Pro others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2505/5399 | 2252/3735 | 751/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432000 | G | A | missense_variant | MODERATE | NA21309.hp1 | a0017 | a0017c0024 | a0017c0024t0004 | a0017c0024t0004g0239 | 1 | 306 | 0.0033 | 0 | c.245 others(4): Show |
p.Cys others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2706/5399 | 2453/3735 | 818/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432129 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
a0001a0003a0005others(14): Show | a0001c0001a0001c0004a0001c0007others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(217): Show | 222 | 306 | 0.7255 | 0 | c.258 others(4): Show |
p.Met others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2835/5399 | 2582/3735 | 861/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432155 | G | A | missense_variant | MODERATE | NA18954.hp1 NA18957.hp2 NA18960.hp1 others(4): Show |
a0005a0016 | a0005c0006a0016c0025 | a0005c0006t0006a0016c0025t0001 | a0005c0006t0006g0064a0005c0006t0006g0098a0005c0006t0006g0162others(4): Show | 7 | 306 | 0.0229 | 0 | c.260 others(4): Show |
p.Gly others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2861/5399 | 2608/3735 | 870/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432165 | G | T | missense_variant | MODERATE | HG00639.hp2 | a0013 | a0013c0028 | a0013c0028t0001 | a0013c0028t0001g0213 | 1 | 306 | 0.0033 | 0 | c.261 others(4): Show |
p.Arg others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2871/5399 | 2618/3735 | 873/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432277 | A | C | missense_variant | MODERATE | NA18954.hp1 NA18957.hp2 NA18960.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0064a0005c0006t0006g0098a0005c0006t0006g0162others(3): Show | 6 | 306 | 0.0196 | 0 | c.273 others(4): Show |
p.Glu others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2983/5399 | 2730/3735 | 910/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432293 | A | G | missense_variant | MODERATE | NA18954.hp1 NA18957.hp2 NA18960.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0064a0005c0006t0006g0098a0005c0006t0006g0162others(3): Show | 6 | 306 | 0.0196 | 0 | c.274 others(4): Show |
p.Asn others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 2999/5399 | 2746/3735 | 916/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112432572 | C | G | missense_variant | MODERATE | NA19079.hp1 | a0014 | a0014c0027 | a0014c0027t0003 | a0014c0027t0003g0144 | 1 | 306 | 0.0033 | 0 | c.302 others(4): Show |
p.Arg others(7): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 3278/5399 | 3025/3735 | 1009/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112438596 | G | A | missense_variant | MODERATE | HG02922.hp1 | a0015 | a0015c0026 | a0015c0026t0003 | a0015c0026t0003g0008 | 1 | 306 | 0.0033 | 0 | c.330 others(4): Show |
p.Glu others(7): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 13/16 | 3554/5399 | 3301/3735 | 1101/1244 | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112438636 | C | T | missense_variant | MODERATE | NA19077.hp2 | a0020 | a0020c0030 | a0020c0030t0002 | a0020c0030t0002g0063 | 1 | 306 | 0.0033 | 0 | c.334 others(4): Show |
p.Thr others(7): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 13/16 | 3594/5399 | 3341/3735 | 1114/1244 | chr4 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58481837 | C | T | missense_variant | MODERATE | HG04199.hp1 | a0055 | a0055c0090 | a0055c0090t0001 | a0055c0090t0001g0132 | 1 | 320 | 0.0031 | 0 | c.649 others(4): Show |
p.Glu others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 13/13 | 6847/7437 | 6499/6513 | 2167/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58481867 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(52): Show | a0001c0001a0001c0006a0001c0016others(80): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(149): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(299): Show | 302 | 320 | 0.9438 | 0 | c.646 others(4): Show |
p.Ile others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 13/13 | 6817/7437 | 6469/6513 | 2157/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58504031 | G | C | missense_variant | MODERATE | NA19012.hp1 | a0045 | a0045c0062 | a0045c0062t0001 | a0045c0062t0001g0222 | 1 | 320 | 0.0031 | 0 | c.614 others(4): Show |
p.Asn others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/13 | 6495/7437 | 6147/6513 | 2049/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58504038 | T | C | missense_variant | MODERATE | NA19076.hp2 | a0044 | a0044c0060 | a0044c0060t0003 | a0044c0060t0003g0205 | 1 | 320 | 0.0031 | 0 | c.614 others(4): Show |
p.Glu others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/13 | 6488/7437 | 6140/6513 | 2047/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58517045 | G | T | missense_variant | MODERATE | NA19010.hp1 | a0048 | a0048c0053 | a0048c0053t0001 | a0048c0053t0001g0309 | 1 | 320 | 0.0031 | 0 | c.580 others(4): Show |
p.Arg others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 9/13 | 6151/7437 | 5803/6513 | 1935/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58517172 | C | A | missense_variant | MODERATE | HG03139.hp2 | a0058 | a0058c0094 | a0058c0094t0005 | a0058c0094t0005g0315 | 1 | 320 | 0.0031 | 0 | c.567 others(4): Show |
p.Glu others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 9/13 | 6024/7437 | 5676/6513 | 1892/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58523821 | G | A | missense_variant | MODERATE | HG00642.hp2 | a0042 | a0042c0063 | a0042c0063t0007 | a0042c0063t0007g0069 | 1 | 320 | 0.0031 | 0 | c.565 others(4): Show |
p.Arg others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/13 | 5998/7437 | 5650/6513 | 1884/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58523971 | C | T | missense_variant | MODERATE | HG03834.hp2 | a0060 | a0060c0086 | a0060c0086t0008 | a0060c0086t0008g0225 | 1 | 320 | 0.0031 | 0 | c.559 others(4): Show |
p.Gly others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 7/13 | 5941/7437 | 5593/6513 | 1865/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58524007 | G | C | missense_variant | MODERATE | NA19080.hp2 | a0043 | a0043c0070 | a0043c0070t0002 | a0043c0070t0002g0039 | 1 | 320 | 0.0031 | 0 | c.555 others(4): Show |
p.Gln others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 7/13 | 5905/7437 | 5557/6513 | 1853/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58534888 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0014a0023a0036others(3): Show | a0014c0011a0023c0026a0036c0047others(3): Show | a0014c0011t0003a0014c0011t0007a0023c0026t0001others(6): Show | a0014c0011t0003g0259a0014c0011t0007g0082a0014c0011t0007g0083others(9): Show | 12 | 320 | 0.0375 | 0 | c.529 others(4): Show |
p.His others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 5647/7437 | 5299/6513 | 1767/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58534999 | T | C | missense_variant | MODERATE | HG00738.hp1 HG02055.hp1 HG02056.hp1 others(12): Show |
a0008a0009a0034 | a0008c0027a0008c0035a0008c0041others(2): Show | a0008c0027t0002a0008c0027t0010a0008c0035t0006others(8): Show | a0008c0027t0002g0022a0008c0027t0002g0074a0008c0027t0010g0104others(12): Show | 15 | 320 | 0.0469 | 0 | c.518 others(4): Show |
p.Lys others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 5536/7437 | 5188/6513 | 1730/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535103 | G | A | missense_variant | MODERATE | HG02735.hp1 | a0056 | a0056c0091 | a0056c0091t0003 | a0056c0091t0003g0131 | 1 | 320 | 0.0031 | 0 | c.508 others(4): Show |
p.Ala others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 5432/7437 | 5084/6513 | 1695/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535238 | G | A | missense_variant | MODERATE | HG00733.hp1 | a0040 | a0040c0066 | a0040c0066t0001 | a0040c0066t0001g0273 | 1 | 320 | 0.0031 | 0 | c.494 others(4): Show |
p.Ala others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 5297/7437 | 4949/6513 | 1650/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535451 | T | C | missense_variant | MODERATE | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0014a0023a0036others(3): Show | a0014c0011a0023c0026a0036c0047others(3): Show | a0014c0011t0003a0014c0011t0007a0023c0026t0001others(6): Show | a0014c0011t0003g0259a0014c0011t0007g0082a0014c0011t0007g0083others(9): Show | 12 | 320 | 0.0375 | 0 | c.473 others(4): Show |
p.Gln others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 5084/7437 | 4736/6513 | 1579/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535536 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(103): Show |
a0002a0004a0013others(15): Show | a0002c0002a0002c0014a0002c0079others(21): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(42): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(103): Show | 106 | 320 | 0.3313 | 0 | c.465 others(4): Show |
p.Ala others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4999/7437 | 4651/6513 | 1551/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535646 | T | C | missense_variant | MODERATE | NA19055.hp1 | a0064 | a0064c0082 | a0064c0082t0005 | a0064c0082t0005g0175 | 1 | 320 | 0.0031 | 0 | c.454 others(4): Show |
p.Gln others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4889/7437 | 4541/6513 | 1514/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58535835 | A | G | missense_variant | MODERATE | HG00738.hp2 HG02895.hp1 HG02922.hp1 others(1): Show |
a0020a0050 | a0020c0019a0050c0050 | a0020c0019t0002a0020c0019t0005a0020c0019t0022others(1): Show | a0020c0019t0002g0051a0020c0019t0005g0141a0020c0019t0022g0233others(1): Show | 4 | 320 | 0.0125 | 0 | c.435 others(4): Show |
p.Ile others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4700/7437 | 4352/6513 | 1451/2170 | chr18 | TogoVar |