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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58535842 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(102): Show |
a0002a0004a0013others(14): Show | a0002c0002a0002c0014a0002c0079others(20): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(41): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(102): Show | 105 | 320 | 0.3281 | 0 | c.434 others(4): Show |
p.Pro others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4693/7437 | 4345/6513 | 1449/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58536604 | C | T | missense_variant | MODERATE | HG03927.hp2 | a0057 | a0057c0089 | a0057c0089t0001 | a0057c0089t0001g0156 | 1 | 320 | 0.0031 | 0 | c.358 others(4): Show |
p.Val others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3931/7437 | 3583/6513 | 1195/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58536666 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0006a0001c0016others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(233): Show | 236 | 320 | 0.7375 | 0 | c.352 others(4): Show |
p.His others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3869/7437 | 3521/6513 | 1174/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58536999 | C | A | missense_variant | MODERATE | HG02809.hp1 HG03098.hp1 HG03130.hp1 others(3): Show |
a0017a0032 | a0017c0017a0017c0052a0032c0076others(1): Show | a0017c0017t0010a0017c0017t0012a0017c0017t0023others(3): Show | a0017c0017t0010g0105a0017c0017t0012g0096a0017c0017t0023g0139others(3): Show | 6 | 320 | 0.0188 | 0 | c.318 others(4): Show |
p.Gly others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3536/7437 | 3188/6513 | 1063/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537018 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0006a0001c0016others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(233): Show | 236 | 320 | 0.7375 | 0 | c.316 others(4): Show |
p.Leu others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3517/7437 | 3169/6513 | 1057/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537255 | A | G | missense_variant | MODERATE | HG02257.hp2 HG02922.hp2 HG03516.hp2 |
a0019 | a0019c0032a0019c0048 | a0019c0032t0004a0019c0048t0011 | a0019c0032t0004g0167a0019c0032t0004g0316a0019c0048t0011g0091 | 3 | 320 | 0.0094 | 0 | c.293 others(4): Show |
p.Tyr others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3280/7437 | 2932/6513 | 978/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537257 | C | G | missense_variant | MODERATE | HG00280.hp1 HG00423.hp1 HG01256.hp1 others(17): Show |
a0005a0010a0060 | a0005c0005a0005c0085a0005c0087others(3): Show | a0005c0005t0001a0005c0005t0002a0005c0005t0004others(8): Show | a0005c0005t0001g0124a0005c0005t0001g0201a0005c0005t0001g0308others(17): Show | 20 | 320 | 0.0625 | 0 | c.293 others(4): Show |
p.Ser others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3278/7437 | 2930/6513 | 977/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537439 | A | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | 0 | c.274 others(4): Show |
p.Asn others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3096/7437 | 2748/6513 | 916/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537515 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0006a0001c0016others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(121): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(260): Show | 263 | 320 | 0.8219 | 0 | c.267 others(4): Show |
p.Thr others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3020/7437 | 2672/6513 | 891/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537536 | G | A | 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.265 others(4): Show |
p.Ser others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2999/7437 | 2651/6513 | 884/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537564 | T | G | missense_variant | MODERATE | HG01934.hp1 | a0061 | a0061c0084 | a0061c0084t0004 | a0061c0084t0004g0199 | 1 | 320 | 0.0031 | 0 | c.262 others(4): Show |
p.Thr others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2971/7437 | 2623/6513 | 875/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537600 | A | G | missense_variant | MODERATE | HG02809.hp1 HG03098.hp1 HG03130.hp1 others(3): Show |
a0017a0032 | a0017c0017a0017c0052a0032c0076others(1): Show | a0017c0017t0010a0017c0017t0012a0017c0017t0023others(3): Show | a0017c0017t0010g0105a0017c0017t0012g0096a0017c0017t0023g0139others(3): Show | 6 | 320 | 0.0188 | 0 | c.258 others(4): Show |
p.Phe others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2935/7437 | 2587/6513 | 863/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537700 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | 0 | c.248 others(4): Show |
p.Lys others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2835/7437 | 2487/6513 | 829/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537713 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | 0 | c.247 others(4): Show |
p.Arg others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2822/7437 | 2474/6513 | 825/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537744 | A | G | missense_variant | MODERATE | HG02895.hp2 HG02897.hp1 |
a0033 | a0033c0038 | a0033c0038t0004 | a0033c0038t0004g0281a0033c0038t0004g0282 | 2 | 320 | 0.0063 | 0 | c.244 others(4): Show |
p.Cys others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2791/7437 | 2443/6513 | 815/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537759 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | 0 | c.242 others(4): Show |
p.Gly others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2776/7437 | 2428/6513 | 810/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58537902 | T | C | missense_variant | MODERATE | HG01109.hp1 HG02258.hp2 |
a0047a0053 | a0047c0064a0053c0074 | a0047c0064t0001a0053c0074t0001 | a0047c0064t0001g0250a0053c0074t0001g0162 | 2 | 320 | 0.0063 | 0 | c.228 others(4): Show |
p.Lys others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2633/7437 | 2285/6513 | 762/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58538030 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | 0 | c.215 others(4): Show |
p.His others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 2505/7437 | 2157/6513 | 719/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58579157 | G | A | missense_variant | MODERATE | HG00733.hp1 HG02572.hp2 |
a0040a0041 | a0040c0066a0041c0065 | a0040c0066t0001a0041c0065t0011 | a0040c0066t0001g0273a0041c0065t0011g0095 | 2 | 320 | 0.0063 | 0 | c.161 others(4): Show |
p.Pro others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 1967/7437 | 1619/6513 | 540/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58579205 | T | C | missense_variant | MODERATE | HG01884.hp2 HG02486.hp2 HG02572.hp1 others(4): Show |
a0024a0034a0035 | a0024c0025a0034c0037a0035c0036 | a0024c0025t0010a0024c0025t0014a0034c0037t0014others(2): Show | a0024c0025t0010g0110a0024c0025t0014g0109a0024c0025t0014g0111others(4): Show | 7 | 320 | 0.0219 | 0 | c.157 others(4): Show |
p.Asp others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 1919/7437 | 1571/6513 | 524/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58579586 | G | A | missense_variant | MODERATE | HG02735.hp1 HG04199.hp1 |
a0055a0056 | a0055c0090a0056c0091 | a0055c0090t0001a0056c0091t0003 | a0055c0090t0001g0132a0056c0091t0003g0131 | 2 | 320 | 0.0063 | 0 | c.119 others(4): Show |
p.Thr others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 1538/7437 | 1190/6513 | 397/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58579613 | G | A | missense_variant | MODERATE | NA19043.hp2 | a0052 | a0052c0075 | a0052c0075t0002 | a0052c0075t0002g0046 | 1 | 320 | 0.0031 | 0 | c.116 others(4): Show |
p.Ser others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 1511/7437 | 1163/6513 | 388/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58579698 | C | T | missense_variant | MODERATE | NA18906.hp2 | a0049 | a0049c0051 | a0049c0051t0001 | a0049c0051t0001g0157 | 1 | 320 | 0.0031 | 0 | c.107 others(4): Show |
p.Asp others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 1426/7437 | 1078/6513 | 360/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58580172 | C | T | missense_variant | MODERATE | HG00408.hp2 HG00738.hp2 HG02280.hp1 others(2): Show |
a0029a0030a0050 | a0029c0031a0030c0030a0050c0050 | a0029c0031t0001a0029c0031t0004a0030c0030t0001others(2): Show | a0029c0031t0001g0277a0029c0031t0004g0278a0030c0030t0001g0242others(2): Show | 5 | 320 | 0.0156 | 0 | c.604 others(3): Show |
p.Ala others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 952/7437 | 604/6513 | 202/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58580208 | G | T | missense_variant | MODERATE | HG02630.hp1 | a0051 | a0051c0049 | a0051c0049t0004 | a0051c0049t0004g0248 | 1 | 320 | 0.0031 | 0 | c.568 others(3): Show |
p.Pro others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 916/7437 | 568/6513 | 190/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58580319 | T | C | missense_variant | MODERATE | HG00642.hp1 HG02145.hp1 HG02258.hp2 others(7): Show |
a0021a0022a0039others(3): Show | a0021c0033a0021c0073a0022c0022others(4): Show | a0021c0033t0008a0021c0073t0001a0022c0022t0004others(4): Show | a0021c0033t0008g0160a0021c0033t0008g0287a0021c0073t0001g0168others(7): Show | 10 | 320 | 0.0313 | 0 | c.457 others(3): Show |
p.Ile others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 805/7437 | 457/6513 | 153/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58580368 | C | A | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(153): Show |
a0001a0002a0005others(20): Show | a0001c0001a0001c0006a0001c0016others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(153): Show | 156 | 320 | 0.4875 | 0 | c.408 others(3): Show |
p.Arg others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/13 | 756/7437 | 408/6513 | 136/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58611766 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0039 | a0039c0095 | a0039c0095t0001 | a0039c0095t0001g0142 | 1 | 320 | 0.0031 | 0 | c.32C others(2): Show |
p.Pro others(5): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2/13 | 380/7437 | 32/6513 | 11/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58611793 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
a0001a0002a0003others(53): Show | a0001c0001a0001c0006a0001c0016others(82): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(148): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(298): Show | 301 | 320 | 0.9406 | 0 | c.5A> others(1): Show |
p.Lys others(4): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2/13 | 353/7437 | 5/6513 | 2/2170 | chr18 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84817556 | C | T | missense_variant | MODERATE | HG01109.hp2 HG02257.hp2 HG03486.hp1 others(1): Show |
a0010 | a0010c0016 | a0010c0016t0004 | a0010c0016t0004g0007a0010c0016t0004g0086 | 4 | 340 | 0.0118 | 0 | c.104 others(3): Show |
p.Ala others(5): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 1/14 | 201/10238 | 104/5118 | 35/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84839914 | C | G | missense_variant | MODERATE | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(41): Show |
a0003a0004a0006others(2): Show | a0003c0005a0003c0050a0004c0007others(3): Show | a0003c0005t0003a0003c0050t0003a0004c0007t0003others(5): Show | a0003c0005t0003g0004a0003c0005t0003g0011a0003c0005t0003g0013others(34): Show | 44 | 340 | 0.1294 | 0 | c.635 others(3): Show |
p.Thr others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 732/10238 | 635/5118 | 212/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840111 | G | A | missense_variant | MODERATE | HG03453.hp2 | a0030 | a0030c0027 | a0030c0027t0012 | a0030c0027t0012g0081 | 1 | 340 | 0.0029 | 0 | c.832 others(3): Show |
p.Gly others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 929/10238 | 832/5118 | 278/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840163 | A | G | missense_variant | MODERATE | HG01496.hp1 HG02630.hp1 HG03471.hp1 |
a0011 | a0011c0018 | a0011c0018t0005 | a0011c0018t0005g0014a0011c0018t0005g0093 | 3 | 340 | 0.0088 | 0 | c.884 others(3): Show |
p.Tyr others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 981/10238 | 884/5118 | 295/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840219 | G | A | missense_variant | MODERATE | HG06807.hp1 | a0029 | a0029c0028 | a0029c0028t0006 | a0029c0028t0006g0249 | 1 | 340 | 0.0029 | 0 | c.940 others(3): Show |
p.Ala others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 1037/10238 | 940/5118 | 314/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840409 | G | A | missense_variant | MODERATE | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(43): Show |
a0003a0004a0006others(3): Show | a0003c0005a0003c0050a0004c0007others(4): Show | a0003c0005t0003a0003c0050t0003a0004c0007t0003others(6): Show | a0003c0005t0003g0004a0003c0005t0003g0011a0003c0005t0003g0013others(36): Show | 46 | 340 | 0.1353 | 0 | c.113 others(4): Show |
p.Gly others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 1227/10238 | 1130/5118 | 377/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840478 | A | G | missense_variant | MODERATE | HG01168.hp2 | a0028 | a0028c0047 | a0028c0047t0001 | a0028c0047t0001g0158 | 1 | 340 | 0.0029 | 0 | c.119 others(4): Show |
p.Gln others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 1296/10238 | 1199/5118 | 400/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840661 | G | A | missense_variant | MODERATE | HG02976.hp2 | a0018 | a0018c0029 | a0018c0029t0011 | a0018c0029t0011g0087 | 1 | 340 | 0.0029 | 0 | c.138 others(4): Show |
p.Gly others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 1479/10238 | 1382/5118 | 461/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84840801 | T | G | missense_variant | MODERATE | HG03579.hp2 NA19043.hp2 |
a0026a0027 | a0026c0038a0027c0037 | a0026c0038t0013a0027c0037t0013 | a0026c0038t0013g0036a0027c0037t0013g0035 | 2 | 340 | 0.0059 | 0 | c.152 others(4): Show |
p.Cys others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/14 | 1619/10238 | 1522/5118 | 508/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84856414 | C | T | missense_variant | MODERATE | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(10): Show |
a0004a0016 | a0004c0007a0016c0049 | a0004c0007t0003a0004c0007t0024a0016c0049t0003 | a0004c0007t0003g0003a0004c0007t0003g0004a0004c0007t0003g0012others(5): Show | 13 | 340 | 0.0382 | 0 | c.167 others(4): Show |
p.Thr others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 1773/10238 | 1676/5118 | 559/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84856867 | C | T | missense_variant | MODERATE | NA18992.hp2 | a0019 | a0019c0046 | a0019c0046t0004 | a0019c0046t0004g0253 | 1 | 340 | 0.0029 | 0 | c.212 others(4): Show |
p.Thr others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 2226/10238 | 2129/5118 | 710/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84856915 | A | G | missense_variant | MODERATE | HG01884.hp1 HG02145.hp2 HG02257.hp1 others(7): Show |
a0005 | a0005c0011a0005c0015a0005c0045 | a0005c0011t0010a0005c0011t0028a0005c0015t0008others(1): Show | a0005c0011t0010g0156a0005c0011t0010g0169a0005c0011t0010g0180others(5): Show | 10 | 340 | 0.0294 | 0 | c.217 others(4): Show |
p.Gln others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 2274/10238 | 2177/5118 | 726/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84857169 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02145.hp2 HG02257.hp1 others(7): Show |
a0005 | a0005c0011a0005c0015a0005c0045 | a0005c0011t0010a0005c0011t0028a0005c0015t0008others(1): Show | a0005c0011t0010g0156a0005c0011t0010g0169a0005c0011t0010g0180others(5): Show | 10 | 340 | 0.0294 | 0 | c.243 others(4): Show |
p.Glu others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 2528/10238 | 2431/5118 | 811/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84857268 | C | T | missense_variant | MODERATE | HG01952.hp1 | a0025 | a0025c0036 | a0025c0036t0003 | a0025c0036t0003g0159 | 1 | 340 | 0.0029 | 0 | c.253 others(4): Show |
p.Pro others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 2627/10238 | 2530/5118 | 844/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84857335 | C | T | missense_variant | MODERATE | HG02895.hp2 HG02976.hp1 |
a0013 | a0013c0023 | a0013c0023t0005 | a0013c0023t0005g0195a0013c0023t0005g0196 | 2 | 340 | 0.0059 | 0 | c.259 others(4): Show |
p.Thr others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 2694/10238 | 2597/5118 | 866/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84857703 | G | A | missense_variant | MODERATE | HG02572.hp1 | a0024 | a0024c0039 | a0024c0039t0007 | a0024c0039t0007g0084 | 1 | 340 | 0.0029 | 0 | c.296 others(4): Show |
p.Gly others(6): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3062/10238 | 2965/5118 | 989/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84858022 | T | C | missense_variant | MODERATE | HG02922.hp2 | a0020 | a0020c0032 | a0020c0032t0005 | a0020c0032t0005g0207 | 1 | 340 | 0.0029 | 0 | c.328 others(4): Show |
p.Val others(7): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3381/10238 | 3284/5118 | 1095/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84858028 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(269): Show |
a0001a0003a0004others(22): Show | a0001c0001a0001c0002a0001c0004others(37): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(72): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(236): Show | 272 | 340 | 0.8000 | 0 | c.329 others(4): Show |
p.Pro others(7): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3387/10238 | 3290/5118 | 1097/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84858085 | G | A | missense_variant | MODERATE | HG02559.hp2 | a0021 | a0021c0033 | a0021c0033t0005 | a0021c0033t0005g0285 | 1 | 340 | 0.0029 | 0 | c.334 others(4): Show |
p.Gly others(7): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3444/10238 | 3347/5118 | 1116/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84858100 | A | G | missense_variant | MODERATE | NA19043.hp2 | a0026 | a0026c0038 | a0026c0038t0013 | a0026c0038t0013g0036 | 1 | 340 | 0.0029 | 0 | c.336 others(4): Show |
p.Gln others(7): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3459/10238 | 3362/5118 | 1121/1705 | chr15 | TogoVar | ||
ALPK3_chr15_84812356_84878479 | 84858366 | C | T | missense_variant | MODERATE | HG01433.hp2 HG01496.hp1 HG02280.hp1 others(7): Show |
a0007a0011a0021 | a0007c0017a0007c0026a0007c0031others(2): Show | a0007c0017t0005a0007c0017t0025a0007c0026t0005others(3): Show | a0007c0017t0005g0085a0007c0017t0005g0287a0007c0017t0025g0071others(6): Show | 10 | 340 | 0.0294 | 0 | c.362 others(4): Show |
p.Arg others(7): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 6/14 | 3725/10238 | 3628/5118 | 1210/1705 | chr15 | TogoVar |