Table: variants

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mut_id rsid mut_type mut_eff mut_syn_HGVS coordinate_GRCh38 gnomAD_AC gnomAD_AN gnomAD_AF nt_change n_bp cdna_numb_HGVS cdna_numb_legacy g_numb nuc_numb codon_first codon_last aa_numb_legacy aa_numb_HGVS aa_first aa_last aa_syn d_id exon_location e_i_numb clinvar_id clinvar_classification comments refState ref_id g_id g_name
1 . Duplication frameshift_variant c.22dupG 133422462 7 1613842 0.00000433 Duplication 1 22 22 g16 22 C CG 8 8 Ala Gly p.Ala8GlyfsTer131 exon 1 2815335 Pathogenic/Likely pathogenic complete 76, 332 g16 ADAMTS13
2 rs964642490 Point nonsense_variant c.83G>A 133422526 18 1614106 0.00001115 G>A 1 83 83 g16 83 TGG TAG 28 28 Trp Ter p.Trp28Ter exon 1 . . . complete 72, 332 g16 ADAMTS13
3 rs2130769073 Point nonsense_variant c.84G>A 133422527 1 1614118 6.20E-07 G>A 1 84 84 g16 84 TGG TGA 28 28 Trp Ter p.Trp28Ter exon 1 1677266 Likely pathogenic complete 316 g16 ADAMTS13
4 rs1554784015 Point nonsense_variant c.130C>T 133423125 1 1613902 6.20E-07 C>T 1 130 130 g16 130 CAG TAG 44 44 Gln Ter p.Gln44Ter exon 2 3720917 Pathogenic/Likely pathogenic . complete 71, 110, 182 g16 ADAMTS13
5 rs281875297 Point missense_variant c.237C>G 133424385 1 1613634 6.20E-07 C>G 1 237 237 g16 237 ATC ATG 79 79 Ile Met p.Ile79Met exon 3 68811 not provided complete 76, 176 g16 ADAMTS13
6 rs281875302 Point missense_variant c.262G>A 133424410 9 1613586 0.00000557 G>A 1 262 262 g16 262 GTG ATG 88 88 Val Met p.Val88Met exon 3 68812 conflicting Conflicting interpretations of pathogenicity complete 71, 95, 163, 233, 273, 277, 306 g16 ADAMTS13
7 . Point missense_variant c.262G>C 133424410 1 1613704 6.20E-07 G>C 1 262 262 g16 262 GTG CTG 88 88 Val Leu p.Val88Leu exon 3 . . . complete 7, 139 g16 ADAMTS13
8 . Point missense_variant c.283G>C 133424431 . . . G>C 1 283 283 g16 283 GCT CCT 95 95 Ala Pro p.Ala95Pro exon 3 . . . complete 7, 139 g16 ADAMTS13
9 rs121908467 Point missense_variant c.286C>G 133424434 2 1613950 0.00000123 C>G 1 286 286 g16 286 CAC GAC 96 96 His Asp p.His96Asp exon 3 5798 Pathogenic Pathogenic complete 188 g16 ADAMTS13
10 . Deletion Deletion c.287_288del 133424435 . . . Deletion 2 287 287 g16 287 . . 96 96 His Pro p.His96Profs*42 exon 3 . . complete 7 g16 ADAMTS13
11 . Point missense_variant c.291G>T 133424438 . . . G>T 1 291 291 g16 291 CAG CAT 97 97 Gln His p.Gln97His exon 3 . . . complete 72 g16 ADAMTS13
12 rs387906345 Deletion frameshift_variant c.291_319del 133424430 2 1613902 0.00000123 Deletion 29 291 291 g16 291 GCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCA G 98 98 Glu Pro p.Glu98ProfsTer31 exon 3 5820 Pathogenic Pathogenic complete 47, 265, 310 g16 ADAMTS13
13 rs121908469 Point missense_variant c.304C>A 133424452 2 1613854 1.24E-06 C>A 1 304 304 g16 304 CGC AGC 102 102 Arg Ser p.Arg102Ser exon 3 . . . complete 19, 60 g16 ADAMTS13
14 rs121908469 Point missense_variant c.304C>T 133424452 19 1613736 1.18E-05 C>T 1 304 304 g16 304 CGC TGC 102 102 Arg Cys p. Arg102Cys exon 3 5800 Pathogenic Pathogenic complete 71, 117, 188, 315, 332 g16 ADAMTS13
15 . Deletion Deletion c.334delG 133425527 1 1612714 6.20E-07 Deletion 1 334 334 g16 334 AG A 111 111 Ala Gln p.Ala111GlnfsTer18 exon 4 . . . complete 220, 239 g16 ADAMTS13
16 . Point missense_variant c.356C>T 133425554 . . . C>T 1 356 356 g16 356 TCC TTC 119 119 Ser Phe p.Ser119Phe exon 4 . . . complete 71, 152, 159 g16 ADAMTS13
17 . Insertion Insertion c.372_373insGT 133425570 . . . Insertion . . . g16 . . . 125 125 Arg Val p.Arg125Valfs*6 exon 4 . . . complete 71 g16 ADAMTS13
18 . Point missense_variant c.427A>T 133425950 . . . A>T 1 427 427 g16 427 ATC TTC 143 143 Ile Phe p.Ile143Phe exon 5 . . . complete 215, 233 g16 ADAMTS13
19 . Point missense_variant c.428T>C 133425951 . . . T>C 1 428 428 g16 428 ATC ACC 143 143 Ile Thr p.Ile143Thr exon 5 . . . complete 118, 233, 321 g16 ADAMTS13
20 rs888709549 Point missense_variant c.436A>T 133425959 4 1613690 0.00000247 A>T 1 436 436 g16 436 AAC TAC 146 146 Asn Tyr p.Asn146Tyr exon 5 1950377 Uncertain signiificance . complete 317 g16 ADAMTS13
21 rs369026148 Point missense_variant c.460G>A 133425983 24 1613866 0.00001487 G>A 1 460 460 g16 460 GTC ATC 154 154 Val Ile p.Val154Ile exon 5 632037 Uncertain signiificance . complete 7, 76 g16 ADAMTS13
22 rs781825239 Point missense_variant c.496G>A 133426019 29 1614020 0.00001797 G>A 1 496 496 g16 496 GAC AAC 166 166 Asp Asn p.Asp166Asn exon 5 . . . complete 293 g16 ADAMTS13
23 rs1554785165 Point missense_variant c.518A>G 133426041 3 1613980 0.00000185 A>G 1 518 518 g16 518 GAC GGC 173 173 Asp Gly p.Asp173Gly exon 5 . . . complete 100 g16 ADAMTS13
24 rs200594025 Point missense_variant c.530A>G 133426053 1 1613964 6.20E-07 A>G 1 530 530 g16 530 TAT TGT 177 177 Tyr Cys p.Tyr177Cys exon 5 . . . complete 10, 48, 71, 93 g16 ADAMTS13
25 . Point missense_variant c.533T>C 133426056 . . . T>C 1 533 533 g16 533 ATC ACC 178 178 Ile Thr p.Ile178Thr exon 5 . . . complete 71, 205 g16 ADAMTS13
26 rs782650307 Point missense_variant c.568C>T 133426227 17 1613554 0.00001054 C>T 1 568 568 g16 568 CGG TGG 190 190 Arg Trp p.Arg190Trp exon 6 3357501 Uncertain signiificance . complete 332 g16 ADAMTS13
27 . Point missense_variant c.605G>A 133426264 1 1612206 6.20E-07 G>A 1 605 605 g16 605 TGC TAC 202 202 Cys Tyr p.Cys202Tyr exon 6 . . . complete 332 g16 ADAMTS13
28 . Point missense_variant c.607T>C 133426266 . . . T>C 1 607 607 g16 607 TCC CCC 203 203 Ser Pro p.Ser203Pro exon 6 . . . complete 76, 161, 176 g16 ADAMTS13
29 rs782442144 Point missense_variant c.623G>C 133426282 1 1610398 6.21E-07 G>C 1 623 623 g16 623 TGC TCC 208 208 Cys Ser p.Cys208Ser exon 6 . . . complete 304 g16 ADAMTS13
30 . Point missense_variant c.665T>C 133426324 . . . T>C 1 665 665 g16 665 ATT ACT 222 222 Ile Thr p.Ile222Thr exon 6 . . . complete 312 g16 ADAMTS13
31 . Point missense_variant c.681G>C 133426338 2 1601078 0.00000124 G>C 1 681 681 g16 681 GGG GGC 227 227 Gly Arg p.Gly227Arg exon 7 . . . complete 71 g16 ADAMTS13
32 . Point missense_variant c.702C>A 133428649 . . . C>A 1 702 702 g16 702 CAC CAA 234 234 His Gln p.His234Gln exon 7 68826 Likely pathogenic . complete 71, 93, 205, 274 g16 ADAMTS13
33 . Point missense_variant c.703G>C 133428650 . . . G>C 1 703 703 g16 703 GAC CAC 235 235 Asp His p.Asp235His exon 7 . . . complete 93, 181 g16 ADAMTS13
34 . Insertion frameshift_variant c.708_709insG 133428655 . . . Insertion 1 . . g16 . . . 237 237 Ala Gly Ala237GlyfsTer153 exon 7 . . . complete 86 g16 ADAMTS13
35 . Deletion Deletion c.708delC 133428655 . . . Deletion 1 708 708 g16 708 . . 237 237 Ala Arg p.Ala237Argfs*12 exon 7 . . . complete 71, 72, 332 g16 ADAMTS13
36 . Deletion Deletion c.721delG 133428668 . . . Deletion 1 721 721 g16 721 . . 241 241 Gly Gly p.Gly241fs exon 7 complete 290 g16 ADAMTS13
37 . Point missense_variant c.725G>A 133428672 1 1360596 7.35E-07 G>A 1 725 725 g16 725 TGC TAC 242 242 Cys Tyr p.Cys242Tyr exon 7 3254625 Conflicting classifications of pathogenicity complete 314 g16 ADAMTS13
38 . Deletion Deletion c.768_774del7 133428712 . . . Deletion 7 768 768 g16 768 GC G 257 257 Arg Ala p.Arg257Alafs*13 exon 7 . . . complete 140, 315 g16 ADAMTS13
39 . Point missense_variant c.788C>G 133428734 . . . C>G 1 788 788 g16 788 TCC TGC 263 263 Ser Cys p.Ser263Cys exon 7 . . . complete 305 g16 ADAMTS13
40 . Point missense_variant c.794G>C 133428741 4 1357094 0.00000294 G>C 1 794 794 g16 794 TGC TCC 265 265 Cys Ser p.Cys265Ser exon 7 2690839 Uncertain signiificance complete 138, 239 g16 ADAMTS13
41 . Point missense_variant c.794G>A 133428741 1 1357094 7.37E-07 G>A 1 794 794 g16 794 TGC TAC 265 265 Cys Tyr p.Cys265Tyr exon 7 . . . complete 319 g16 ADAMTS13
42 . Point missense_variant c.796A>T 133428743 4 1355842 0.00000295 A>T 1 796 796 g16 796 AGC TGC 266 266 Ser Cys p.Ser266Cys exon 7 . . . complete 72 g16 ADAMTS13
43 . Point missense_variant c.841T>A . . . T>A 1 841 841 g16 841 281 281 Cys Ser p.Cys281Ser exon 8 complete 71, 111, 205 g16 ADAMTS13
44 rs782674608 Point missense_variant c.844G>C 133429958 6 1538378 0.0000039 G>C 1 844 844 g16 844 GTG CTG 282 282 Val Leu p.Val282Leu exon 8 . . . complete 76 g16 ADAMTS13
45 . Point missense_variant c.914A>G . . . A>G 1 914 914 g16 914 TAC TGC 305 305 Tyr Cys p.Tyr305Cys exon 8 complete 305 g16 ADAMTS13
46 . Point missense_variant c.932G>A . . . G>A 1 932 932 g16 932 TGC TAC 311 311 Cys Tyr p.Cys311Tyr exon 8 complete 181 g16 ADAMTS13
47 rs782268976 Point missense_variant c.972C>A 133430086 5 1589716 0.00000314 C>A 1 972 972 g16 972 TTC TTA 324 324 Phe Leu p.Phe324Leu exon 8 . . . complete 205 g16 ADAMTS13
48 . Insertion Insertion c.1007_1025dup19 133432607 . . . Duplication 19 . . g16 . . . 343 343 Asp Leu p.Asp343LeufsTer53 exon 9 . . . complete 87 g16 ADAMTS13
49 rs281875338 Point missense_variant c.1058C>T 133432658 44 1559872 2.82E-05 C>T 1 1058 1058 g16 1058 CCT CTT 353 353 Pro Leu p.Pro353Leu exon 9 68800 Likely pathogenic Pathogenic complete 7, 12, 71, 72, 181, 186, 232, 305, 312, 332 g16 ADAMTS13
50 . Point missense_variant c.1093T>G 133433378 . . . T>G 1 1093 1093 g16 1093 TGG GGG 365 365 Trp Gly p.Trp365Gly exon 10 . . . complete 205, 214 g16 ADAMTS13
51 . Point missense_variant c.1097G>A 133433382 . . . G>A 1 1097 1097 g16 1097 TGC TAC 366 366 Cys Tyr p.Cys366Tyr exon 10 . . . complete 71, 205, 216 g16 ADAMTS13
52 . Point missense_variant c.1073G>A 133433439 . . . G>A 1 1073 1073 g16 1073 GGG GAG 385 385 Gly Glu p.Gly385Glu exon 10 . . . complete 71, 205, 241 g16 ADAMTS13
53 rs780251348 Point missense_variant c.1160G>C 133433445 1 1613506 6.20E-07 G>C 1 1160 1160 g16 1160 TGG TCG 387 387 Trp Ser p.Trp387Ser exon 10 . . . complete 197 g16 ADAMTS13
54 . Point missense_variant c.1198T>C 133433483 . . . T>C 1 1198 1198 g16 1198 TGC CGC 400 400 Cys Arg p.Cys400Arg exon 10 . . . complete 205, 214, 220, 312 g16 ADAMTS13
55 rs1588165946 Point missense_variant c.1226G>A 133433511 5 1613558 0.00000309 G>A 1 1226 1226 g16 1226 CGG CAG 409 409 Arg Gln p.Arg409Gln exon 10 3902251 Uncertain signiificance complete 10 g16 ADAMTS13
56 rs1024726284 Point missense_variant c.1256G>T 133433652 1 1613860 6.20E-07 G>T 1 1256 1256 g16 1256 GGG GTG 419 419 Gly Val p.Gly419Val exon 11 . . . complete 7, 38 g16 ADAMTS13
57 rs145825553 Point missense_variant c.1261C>T 133433657 891 1613784 0.0005521 C>T 1 1261 1261 g16 1261 CGT TGT 421 421 Arg Cys p.Arg421Cys exon 11 450994 Conflicting classifications of pathogenicity complete 307 g16 ADAMTS13
58 . Point nonsense_variant c.1285C>T 133433682 . . . C>T 1 1285 1285 g16 1285 CAG TAG 429 429 Gln Ter p.Gln429Ter exon 11 . . . complete 48, 71, 233 g16 ADAMTS13
59 . Point missense_variant c.1297T>C 133433693 . . . T>C 1 1297 1297 g16 1297 TGC CGC 433 433 Cys Arg p.Cys433Arg exon 11 . . . complete 94 g16 ADAMTS13
60 . Point missense_variant c.1297T>G 133433693 . . . T>G 1 1297 1297 g16 1297 TGC GGC 433 433 Cys Gly p.Cys433Gly exon 11 . . . complete 102 g16 ADAMTS13
61 . Deletion Deletion c.1305delT 133433701 . . . Deletion . 1305 1305 g16 1305 . . 435 435 Thr Ser p.Thr435Serfs* exon 11 . . . complete 71 g16 ADAMTS13
62 . Point missense_variant c.1312T>C 133436832 . . . T>C 1 1312 1312 g16 1312 TGC CGC 438 438 Cys Arg p.Cys438Arg exon 12 . . . complete 76 g16 ADAMTS13
63 . Point missense_variant c.1313G>C 133436833 . . . G>C 1 1313 1313 g16 1313 TGC TCC 438 438 Cys Ser p.Cys438Ser exon 12 . . . complete 71, 205, 235 g16 ADAMTS13
64 . Point missense_variant c.1328T>C 133436848 . . . T>C 1 1328 1328 g16 1328 CTG CCG 443 443 Leu Pro p.Leu443Pro exon 12 . . . complete 76 g16 ADAMTS13
65 . Deletion frameshift_variant c.1335delC 133436855 1 1564334 6.39E-07 Deletion 1 1335 1335 g16 1335 TC T 445 445 Phe Leu p.Phe445LeufsTer52 exon 12 . . Pathogenic complete 34, 73, 295, 304 g16 ADAMTS13
66 . Point missense_variant c.1368G>C 133436888 . . . G>C 1 1368 1368 g16 1368 CAG CAC 456 456 Gln His p.Gln456His exon 12 . . . complete 72, 78, 332 g16 ADAMTS13
67 rs36220239 Point missense_variant c.1368G>T 133436888 4471 1586750 0.002818 G>T 1 1368 1368 g16 1368 CAG CAT 456 456 Gln His p.Gln456His exon 12 262426 Benign/Likely Benign complete 138 g16 ADAMTS13
68 . Point missense_variant c.1382C>A 133436903 . . . C>A 1 1382 1382 g16 1382 TCC TCA 461 461 Ser Tyr p.Ser461Tyr exon 12 . . . complete 10 g16 ADAMTS13
69 . Duplication frameshift_variant c.1408dup 133436928 . . . Duplication . 1408 1408 g16 1408 470 470 Trp Leu p.Trp470Leufs*64 exon 12 . . Pathogenic complete 7, 12 g16 ADAMTS13
70 rs1554789233 Point nonsense_variant c.1409G>A 133436928 1 1593532 6.28E-07 G>A 1 1409 1409 g16 1409 TGG TAG 470 470 Trp Ter p.Trp470Ter exon 12 . . . complete 76 g16 ADAMTS13
71 rs11575933 Point missense_variant c.1423C>T 133436943 3897 1596632 0.002441 C>T 1 1423 1423 g16 1423 CCA TCA 475 475 Pro Ser p.Pro475Ser exon 12 5814 Conflicting classifications of pathogenicity complete 187 g16 ADAMTS13
72 . Insertion frameshift_variant c.1435_1436insG 133437748 . . . Insertion 1 1435 1435 g16 1435 GAT GGA 480 480 Asp Gly p.Asp480GlyfsTer54 exon 13 . . complete 38, 46 g16 ADAMTS13
73 rs781786860 Point missense_variant c.1491G>C 133437804 16 1613990 0.00000991 G>C 1 1491 1491 g16 1491 AAG AAC 497 497 Lys Asn p.Lys497Asn exon 13 3146993 Uncertain signiificance complete 332 g16 ADAMTS13
74 . Point missense_variant c.1510G>T 133437823 . . . G>T 1 1510 1510 g16 1510 GAT TAT 504 504 Asp Tyr p.Asp504Tyr exon 13 . . . complete 73 g16 ADAMTS13
75 rs281875296 Point missense_variant c.1520G>A 133437833 11 1613974 6.82E-06 G>A 1 1520 1520 g16 1520 CGG CAG 507 507 Arg Gln p.Arg507Gln exon 13 68802 Not provided Pathogenic complete 11, 71, 76, 93, 95, 161, 176, 240 g16 ADAMTS13
76 . Point missense_variant c.1564T>C 133437877 . . . T>C 1 1564 1564 g16 1564 TGT CGT 522 522 Cys Arg p.Cys522Arg exon 13 . . . complete 58, 73, 304 g16 ADAMTS13
77 . Point missense_variant c.1574G>A 133437887 1 1613606 6.20E-07 G>A 1 1574 1574 g16 1574 GGC GAC 525 525 Gly Asp p.Gly525Asp exon 13 . . . complete 71, 205, 214 g16 ADAMTS13
78 . Point missense_variant c.1595G>T 133438256 . . . G>T 1 1595 1595 g16 1595 TGT TTT 532 532 Cys Phe p.Cys532Phe exon 14 . . . complete 28, 49 g16 ADAMTS13
79 . Point missense_variant c.1624T>G 133438285 1 1614128 6.20E-07 T>G 1 1624 1624 g16 1624 TGG GGG 542 542 Trp Gly p.Trp542Gly exon 14 . . . complete 93 g16 ADAMTS13
80 . Point missense_variant c.1643G>T 133438304 . . . G>T 1 1643 1643 g16 1643 TGT TTT 548 548 Cys Phe p.Cys548Phe exon 14 . . . complete 76 g16 ADAMTS13
81 . Point missense_variant c.1648G>A 133438309 . . . G>A 1 1648 1648 g16 1648 GGG AGG 550 550 Gly Arg p.Gly550Arg exon 14 . . . complete 71, 111, 205 g16 ADAMTS13
82 . Point missense_variant c.1651G>T 133438312 . . . G>T 1 1651 1651 g16 1651 GAC TAC 551 551 Asp Tyr p.Asp551Tyr exon 14 . . . complete 7, 76 g16 ADAMTS13
83 rs1554789735 Point missense_variant c.1703G>T 133438364 3 1613754 0.00000185 G>T 1 1703 1703 g16 1703 AGA ATA 568 568 Arg Ile p.Arg568Ile exon 14 . . . complete 332 g16 ADAMTS13
84 . Point missense_variant c.1778C>T 133439438 1 1613940 6.20E-07 C>T 1 1778 1778 g16 1778 ACA ATA 593 593 Thr Ile p.Thr593Ile exon 15 . . . complete 293 g16 ADAMTS13
85 rs371266006 Point nonsense_variant c.1851C>G 133440408 3 1613810 0.00000185 C>G 1 1851 1851 g16 1851 TAC TAG 617 617 Tyr Ter p.Tyr617Ter exon 16 . . . complete 317 g16 ADAMTS13
86 rs1841581998 Point missense_variant c.1867G>A 133440424 4 1613902 0.00000247 G>A 1 1867 1867 g16 1867 GAT AAT 623 623 Asp Asn p.Asp623Asn exon 16 . . . complete 332 g16 ADAMTS13
87 . Point missense_variant c.1883A>G 133440440 2 1613794 0.00000123 A>G 1 1883 1883 g16 1883 TAC TGC 628 628 Tyr Cys p.Tyr628Cys exon 16 . . . complete 7, 327 g16 ADAMTS13
88 . Point missense_variant c.1892C>T 133440449 . . . C>T 1 1892 1892 g16 1892 GCC GTC 631 631 Ala Val p.Ala631Val exon 16 . . . complete 7, 139 g16 ADAMTS13
89 . Point missense_variant c.1928T>G 133440484 . . . T>G 1 1928 1928 g16 1928 ATC AGC 643 643 Ile Ser p.Ile643Ser exon 16 . . . complete 41 g16 ADAMTS13
90 . Point missense_variant c.2012C>A 133442442 . . . C>A 1 2012 2012 g16 2012 CCA CAA 671 671 Pro Gln p.Pro671Gln exon 17 . . . complete 318 g16 ADAMTS13
91 rs370121816 Point nonsense_variant c.2050C>T 133442480 3 1613786 0.00000185 C>T 1 2050 2050 g16 2050 CAG TAG 684 684 Gln Ter p.Gln684Ter exon 17 2997683 Pathogenic complete 332 g16 ADAMTS13
92 . Point nonsense_variant c.2058G>A 133442488 . . . G>A 1 2058 2058 g16 2058 TGG TGA 686 686 Trp Ter p.Trp686Ter exon 17 . . . complete 205 g16 ADAMTS13
93 rs1554791108 Deletion nonsense_variant c.2063delG 133442493 1 1613698 6.20E-07 Deletion 1 2063 2063 g16 2063 TGG TAG 688 688 Trp Ter p.Trp688Ter exon 17 . . . complete 32 g16 ADAMTS13
94 rs121908475 Point missense_variant c.2074C>T 133442504 11 1613556 6.82E-06 C>T 1 2074 2074 g16 2074 CGT TGT 692 692 Arg Cys p.Arg692Cys exon 17 5809 Pathogenic Pathogenic complete 13, 56, 71, 76, 78, 93, 114, 171, 188, 317, 319 g16 ADAMTS13
95 . Point missense_variant c.2104G>A 133442613 . . . G>A 1 2104 2104 g16 2104 GGG AGG 702 702 Gly Arg p.Gly702Arg exon 18 . . . complete 220, 312 g16 ADAMTS13
96 . Point missense_variant c.2105G>T 133442614 . . . G>T 1 2105 2105 g16 2105 GGG GTG 702 702 Gly Val p.Gly702Val exon 18 . . . complete 71 g16 ADAMTS13
97 . Point missense_variant c.2107T>C 133442617 2 1613276 0.00000124 T>C 1 2107 2107 g16 2107 CTG CCG 703 703 Leu Pro p.Leu703Pro exon 18 . . . complete 332 g16 ADAMTS13
98 . Point missense_variant c.2130C>G 133442639 . . . C>G 1 2130 2130 g16 2130 TGC TGG 710 710 Cys Trp p.Cys710Trp exon 18 . . . complete 34 g16 ADAMTS13
99 . Deletion frameshift_variant c.2137delC 133442646 1 1613268 6.20E-07 Deletion 1 2137 2137 g16 2137 CA C 713 713 Gln Arg p.Gln713ArgfsTer65 exon 18 . . Pathogenic complete 13 g16 ADAMTS13
100 . Point missense_variant c.2188C>T 133442697 . . . C>T 1 2188 2188 g16 2188 CCA TCA 730 730 Pro Ser p.Pro730Ser exon 18 . . . complete 7 g16 ADAMTS13
101 . Point nonsense_variant c.2203G>T 133442712 . . . G>T 1 2203 2203 g16 2203 GAG TAG 735 735 Glu Ter p.Glu735Ter exon 18 . . . complete 71, 76, 99, 123 g16 ADAMTS13
102 rs281875300 Point missense_variant c.2272T>C 133443413 2 1599414 1.25E-06 T>C 1 2272 2272 g16 2272 TGT CGT 758 758 Cys Arg p.Cys758Arg exon 19 68810 Likely pathogenic Pathogenic complete 12, 71, 139, 176, 312 g16 ADAMTS13
103 rs782640568 Point missense_variant c.2275G>A 133443416 1 1599294 6.25E-07 G>A 1 2275 2275 g16 2275 GGG AGG 759 759 Gly Arg p.Gly759Arg exon 19 . . . complete 7 g16 ADAMTS13
104 rs377187626 Point missense_variant c.2351G>A 133443492 47 1587052 0.00002961 G>A 1 2351 2351 g16 2351 CGG CAG 784 784 Arg Gln p.Arg784Gln exon 19 2715019 Uncertain signiificance complete 43 g16 ADAMTS13
105 . Point missense_variant c.2357G>A 133443498 . . . G>A 1 2357 2357 g16 2357 AGA AAA 786 786 Arg Lys p.Arg786Lys exon 19 . . . complete 332 g16 ADAMTS13
106 . Point nonsense_variant c.2397C>A 133443538 . . . C>A 1 2397 2397 g16 2397 TGC TGA 799 799 Cys Ter p.Cys799Ter exon 19 . . . complete 51 g16 ADAMTS13
107 . Point nonsense_variant c.2404C>T 133443545 . . . C>T 1 2404 2404 g16 2404 CAG TAG 802 802 Gln Ter p.Gln802Ter exon 19 . . . complete 76 g16 ADAMTS13
108 . Point missense_variant c.2434G>T 133444876 . . . G>T 1 2434 2434 g16 2434 GAG TAG 812 812 Glu Ter p.Glu812Ter exon 20 . . . complete 7, 139 g16 ADAMTS13
109 rs782584684 Point missense_variant c.2548G>A 133444990 1 1613510 6.20E-07 G>A 1 2548 2548 g16 2548 GAT AAT 850 850 Asp Asn p.Asp850Asn exon 20 . . . complete 332 g16 ADAMTS13
110 rs781844998 Point nonsense_variant c.2651G>A 133445739 1 1612348 6.20E-07 G>A 1 2651 2651 g16 2651 TGG TAG 884 884 Trp Ter p.Trp884Ter exon 21 . . Pathogenic complete 10 g16 ADAMTS13
111 rs1311406038 Point missense_variant c.2677G>C 133445765 6 160924 0.00000342 G>C 1 2677 2677 g16 2677 GCT CCT 893 893 Ala Pro p.Ala893Pro exon 21 . . . complete 317 g16 ADAMTS13
112 rs121908472 Point missense_variant c.3070T>G 133454440 26 1613814 1.61E-05 T>G 1 3070 3070 g16 3070 TGT GGT 894 894 Cys Gly p.Cys1024Gly exon 24 5803 Pathogenic/Likely pathogenic Pathogenic complete 2, 24, 33, 48, 71, 72, 188, 205, 332 g16 ADAMTS13
113 rs78977446 Point missense_variant c.2708C>T 133445796 2194 1590318 0.00138 C>T 1 2708 2708 g16 2708 TCG TTG 903 903 Ser Leu p.Ser903Leu exon 21 365555 Benign/Likely Benign complete 168 g16 ADAMTS13
114 . Point missense_variant c.2723G>C 133445811 . . . G>C 1 2723 2723 g16 2723 TGC TCC 908 908 Cys Ser p.Cys908Ser exon 21 . . . complete 176 g16 ADAMTS13
115 . Point missense_variant c.2724C>G 133445812 . . . C>G 1 2724 2724 g16 2724 TGC TGG 908 908 Cys Trp p.Cys908Trp exon 21 . . . complete 71, 72 g16 ADAMTS13
116 . Point missense_variant c.2725G>C 133445813 . . . G>C 1 2725 2725 g16 2725 GGG CGG 909 909 Gly Arg p.Gly909Arg exon 21 . . . complete 71, 205, 235 g16 ADAMTS13
117 rs374444423 Point missense_variant c.2746C>T 133448613 51 1610268 3.17E-05 C>T 1 2746 2746 g16 2746 CGT TGT 916 916 Arg Cys p.Arg916Cys exon 22 1303178 Conflicting classifications of pathogenicity Pathogenic complete 7, 12, 43, 72, 84, 131, 332 g16 ADAMTS13
118 . Point nonsense_variant c.2785C>T 133448652 . . . C>T 1 2785 2785 g16 2785 CAG TAG 929 929 Gln Ter p.Gln929Ter exon 22 . . . complete 71, 205 g16 ADAMTS13
119 . Point nonsense_variant c.2839C>T 133448706 . . . C>T 1 2839 2839 g16 2839 CAG TAG 947 947 Gln Ter p.Gln947Ter exon 22 . . . complete 307 g16 ADAMTS13
120 . Point nonsense_variant c.2865G>A 133449786 . . . G>A 1 2865 2865 g16 2865 TGG TGA 955 955 Trp Ter p.Trp955X exon 23 . . . complete 290 g16 ADAMTS13
121 . Point missense_variant c.2867A>C 133449788 . . . A>C 1 2867 2867 g16 2867 CAG CCG 956 956 Gln Pro p.Gln956Pro exon 23 . . . complete 7 g16 ADAMTS13
122 . Deletion Deletion c.2883del 133449804 . . . Deletion . 2883 2883 g16 2883 . . 962 962 Cys Ala p.Cys962Alafs*3 exon 23 . . . complete 40 g16 ADAMTS13
123 rs141811556 Point missense_variant c.2890G>A 133449811 150 1614030 0.00009294 G>A 1 2890 2890 g16 2890 GTG ATG 964 964 Val Met p.Val964Met exon 23 912767 Conflicting classifications of pathogenicity . complete 76 g16 ADAMTS13
124 . Deletion Deletion c.2930_2935delGTGCCC 133449851 . . . Deletion 6 2930 2930 g16 2930 . . 977 977 . . . exon 23 . . . complete 233, 263, 310 g16 ADAMTS13
125 . Point missense_variant c.2930G>T 133449851 . . . G>T 1 2930 2930 g16 2930 TGT TTT 977 977 Cys Phe p.Cys977Phe exon 23 . . . complete 138, 239 g16 ADAMTS13
126 . Point missense_variant c.3014A>T 133449935 . . . A>T 1 3014 3014 g16 3014 GAG GTG 1005 1005 Glu Val p.Glu1005Val exon 23 . . . complete 319 g16 ADAMTS13
127 . Deletion Deletion c.3033delC 133449954 . . . Deletion 1 3033 3033 g16 3033 . . 1012 1012 Cys Ala p.Cys1012AlafsX109 exon 23 . . . complete 45 g16 ADAMTS13
128 . Point nonsense_variant c.3047G>A 133454417 . . . G>A 1 3047 3047 g16 3047 TGG TAG 1016 1016 Trp Ter p.Trp1016Ter exon 24 . . . complete 72, 163, 332 g16 ADAMTS13
129 . Point missense_variant c.3092G>A 133454462 . . . G>A 1 3092 3092 g16 3092 GGC GAC 1031 1031 Gly Asp p.Gly1031Asp exon 24 . . . complete 77, 205 g16 ADAMTS13
130 . Point nonsense_variant c.3100A>T 133454470 . . . A>T 1 3100 3100 g16 3100 AGA TGA 1034 1034 Arg Ter p.Arg1034Ter exon 24 . . . complete 71, 185, 186, 220, 305 g16 ADAMTS13
131 . Point missense_variant c.3107C>A 133454477 . . . C>A 1 3107 3107 g16 3107 TCG TAG 1036 1036 Ser Ter p.Ser1036Ter exon 24 . . . complete 149 g16 ADAMTS13
132 . Point missense_variant c.3116G>A 133454486 . . . G>A 1 3116 3116 g16 3116 TGT TAT 1039 1039 Cys Tyr p.Cys1039Tyr exon 24 . . . complete 205 g16 ADAMTS13
133 rs142572218 Point missense_variant c.3178C>T 133454548 1761 1608810 0.001095 C>T 1 3178 3178 g16 3178 CGG TGG 1060 1060 Arg Trp p.Arg1060Trp exon 24 68815 Pathogenic/Likely pathogenic Pathogenic complete 7, 12, 21, 23, 48, 54, 66, 69, 71, 72, 94, 101, 103, 110, 138, 139, 145, 160, 163, 165, 197, 220, 232, 233, 239, 307, 308, 314, 316, 317, 332 g16 ADAMTS13
134 . Point missense_variant c.3199T>A 133454570 1 1607258 6.22E-07 T>A 1 3199 3199 g16 3199 TGT AGT 1067 1067 Cys Ser p.Cys1067Ser exon 24 . . . complete 307 g16 ADAMTS13
135 rs782700247 Point missense_variant c.3223C>T 133454593 7 1604450 0.00000436 C>T 1 3223 3223 g16 3223 CGC TGC 1075 1075 Arg Cys p.Arg1075Cys exon 24 1163040 Uncertain significance complete 292 g16 ADAMTS13
136 . Point missense_variant c.3230A>C 133454600 . . . A>C 1 3230 3230 g16 3230 CAT CCT 1077 1077 His Pro p.His1077Pro exon 24 . . . complete 317 g16 ADAMTS13
137 . Point nonsense_variant c.3242G>A 133454612 . . . G>A 1 3242 3242 g16 3242 TGG TAG 1081 1081 Trp Ter p.Trp1081Ter exon 24 . . . complete 71, 205, 214 g16 ADAMTS13
138 . Point missense_variant c.3251G>A 133455286 . . . G>A 1 3251 3251 g16 3251 TGC TAC 1084 1084 Cys Tyr p.Cys1084Tyr exon 25 . . . complete 98, 134, 321, 327 g16 ADAMTS13
139 . Deletion nonsense_variant c.3252_3253delCT 133455287 . . . Deletion 2 3252 3252 g16 3252 . . 1096 1096 Arg Ter p.Arg1096Ter exon 25 complete 176 g16 ADAMTS13
140 rs281875340 Point missense_variant c.3367C>T 133455402 7 1612504 4.3411E-06 C>T 1 3367 3367 g16 3367 CGT TGT 1123 1123 Arg Cys p.Arg1123Cys exon 25 68816 Pathogenic/Likely pathogenic Pathogenic complete 71, 163, 179, 205, 214, 233 g16 ADAMTS13
141 rs782311861 Point missense_variant c.3368G>A 133455403 9 1612658 0.00000558 G>A 1 3368 3368 g16 3368 CGT CAT 1123 1123 Arg His p.Arg1123His exon 25 . . . complete 52, 71, 78, 119, 205 g16 ADAMTS13
142 . Point missense_variant c.3390T>G 133455425 . . . T>G 1 3390 3390 g16 3390 TGT TGG 1130 1130 Cys Trp p.Cys1130Trp exon 25 . . . complete 76 g16 ADAMTS13
143 . Deletion Deletion c.3421delC 133455456 . . . Deletion . . . g16 . . . 1141 1141 His Thr p.His1141Thrfs*85 exon 25 . . . complete 42, 71, 205 g16 ADAMTS13
144 rs370692680 Point missense_variant c.3530G>A 133455565 49 1607850 0.00003048 G>A 1 3530 3530 g16 3530 CGG CAG 1177 1177 Arg Gln p.Arg1177Gln exon 25 3596734 Uncertain significance . complete 221 g16 ADAMTS13
145 rs1060499780 Deletion frameshift_variant c.3543del 133455575 2 1605912 0.00000124 Deletion 1 3543 3543 g16 3543 CG C 1183 1183 Gln Arg p.Gln1183ArgfsTer43 exon 25 402223 Likely pathogenic Likely pathogenic complete 1 g16 ADAMTS13
146 . Point missense_variant c.3550G>T 133456545 . . . G>T 1 3550 3550 g16 3550 GAC TAC 1184 1184 Asp Tyr p.Asp1184Tyr exon 27 . . . complete 317 g16 ADAMTS13
147 . Point missense_variant c.3557T>C 133456552 . . . T>C 1 3725 3725 g16 3725 TTG TCG 1186 1186 Leu Ser p.Leu1186Ser exon 27 . . . complete 71 g16 ADAMTS13
148 . Point nonsense_variant c.3567G>A 133456562 . . 6.8435E-07 G>A 1 3567 3567 g16 3567 TGG TGA 1189 1189 Trp Ter p.Trp1189Ter exon 27 2735366 Pathogenic . complete 275 g16 ADAMTS13
149 . Point missense_variant c.3628C>T . . . C>T 1 3628 3628 g16 3628 1210 1210 Gln Ter p.Gln1210Ter exon 26 complete 71 g16 ADAMTS13
150 . Insertion frameshift_variant c.3657_3658insT . . . Insertion 1 . . g16 . . . 1220 1220 Pro Ser p.Pro1220Serfs* exon 26 complete 71, 120 g16 ADAMTS13
151 . Point nonsense_variant c.3667G>T 1 1600350 6.25E-07 G>T 1 3667 3667 g16 3667 GGA TGA 1223 1223 Glu Ter p.Glu1223Ter exon 27 complete 52 g16 ADAMTS13
152 . Point missense_variant c.3716G>T . . . G>T 1 3716 3716 g16 3716 GGG GTG 1239 1239 Gly Val p.Gly1239Val exon 27 complete 48, 71, 93, 163, 220, 233, 306 g16 ADAMTS13
153 . Point missense_variant c.3728T>C . . . T>C 1 3728 3728 g16 3728 CTG CCG 1243 1243 Leu Pro p.Leu1243Pro exon 27 complete 292 g16 ADAMTS13
154 . Deletion Deletion c.3772delA . . . Deletion . . . g16 . . . 1258 1258 Asn Thr p.Asn1258ThrfsTer15 exon 27 complete 44, 64 g16 ADAMTS13
155 . Point missense_variant c.3854G>C . . . G>C 1 3854 3854 g16 3854 CGG CCG 1285 1285 Arg Pro p.Arg1285Pro exon 27 complete 73, 292 g16 ADAMTS13
156 . Point missense_variant c.3923G>A . . . G>A 1 3923 3923 g16 3923 GGT GAT 1308 1308 Gly Asp p.Gly1308Asp exon 28 complete 61 g16 ADAMTS13
157 . Point missense_variant c.3988G>C 133459052 . . . G>C 1 3988 3988 g16 3988 GCT CCT 1330 1330 Ala Pro p.Ala1330Pro exon 29 . . . complete 102 g16 ADAMTS13
158 . Deletion Deletion c.4015del . . . Deletion . 4015 4015 g16 4015 . . 1339 1339 Ile Ser p.Ile1339SerfsTer21 exon 28 complete 239, 332 g16 ADAMTS13
159 . Deletion frameshift_variant c.4034del . . 0.00000656 Deletion . 4034 4034 g16 4034 Limited info 1345 1345 Asn Thr p.Asn1345ThrfsTer14 exon 29 . complete 233 g16 ADAMTS13
160 . Duplication Duplication c.4101dupG . . . Duplication . 4101 4101 g16 4101 . . 1368 1368 Thr Asp p.Thr1368Aspfs*20 exon 29 complete 7 g16 ADAMTS13
161 . Point missense_variant c.4154A>C . . . A>C 1 4154 4154 g16 4154 CAG CCG 1385 1385 Gln Pro p.Gln1385Pro exon 29 complete 73 g16 ADAMTS13
162 . Point missense_variant c.4156G>C . . . G>C 1 4156 4156 g16 4156 GCT CCT 1386 1386 Ala Pro p.Ala1386Pro exon 29 complete 102 g16 ADAMTS13
163 . Point missense_variant c.4205G>C . . . G>C 1 4205 4205 g16 4205 CGG CCG 1402 1402 Arg Pro p.Arg1402Pro exon 29 complete 72, 332 g16 ADAMTS13
164 rs1554788243 Deletion Splicing c.1308+2_1308+5del 133433702 2 1613290 0.00000124 Deletion 4 1308 1308 g16 1308 AGGTAGG AGG . . intron 11 3596652 Likely pathogenic . complete 76, 105 g16 ADAMTS13
165 rs782235228 Point Splicing c.1584+5G>A 133437902 23 1613272 0.00001426 G>A 1 1584 1584 g16 1584 . . . . . . . intron 13 5810 Conflicting classifications of pathogenicity Uncertain significance complete 29, 188, 239, 292, 332 g16 ADAMTS13
166 rs1554784975 Deletion Splicing c.331-2_331-1delAG 133425526 1 1612734 6.20E-07 Deletion 2 331 331 g16 331 AG . . intron 3 . . . complete 109 g16 ADAMTS13
167 rs1554785114 Point Splicing c.415-1G>A 133425937 7 1613508 0.00000433 G>A 1 415 415 g16 415 . . intron 4 667364 Likely pathogenic Likely pathogenic complete 1 g16 ADAMTS13
168 . Point Splicing c.686+1G>A 1 1600310 6.25E-07 G>A 1 686 686 g16 686 . . intron 6 . complete 71, 179, 205, 214 g16 ADAMTS13
169 . Deletion Deletion c.1016_1017delCA . . . Deletion 2 . . g16 . . . . . . . . exon 9 complete 307 g16 ADAMTS13
170 . Deletion Deletion c.106_107delAG . . . Deletion . . . g16 . . . . . . . p.Ser36fs*102 exon 2 complete 71, 237 g16 ADAMTS13
171 . Splicing Splicing c.106-1G>C . . . G>C 1 . . g16 . . . . . . . p.S36_C37delfs*102 intron 1 complete 321 g16 ADAMTS13
172 . Deletion Deletion c.1095_1112del . . . Deletion . . . g16 . . . . . . . p.Trp365_Arg370del exon 10 complete 165 g16 ADAMTS13
173 . Deletion Deletion c.1107_1126del . . . Deletion 20 . . g16 . . . . . . . p.Arg370fs exon 10 complete 332 g16 ADAMTS13
174 . Point Splicing c.1244+2T>G . . . T>G 1 . . g16 . . . . . . . . intron 10 complete 71, 179, 205, 214 g16 ADAMTS13
175 rs36219902 Point Splicing c.1245-3C>T 133433638 2736 1614036 0.001695 C>T 1 1245 1245 g16 1245 . . . . . . . intron 10 365543 Conflicting classifications of pathogenicity . complete 7 g16 ADAMTS13
176 . Point Splicing c.1309-1G>A 1 1557226 6.42E-07 G>A 1 1309 1309 g16 1309 . . . . . . . intron 11 . complete 76, 176 g16 ADAMTS13
177 . Splicing Splicing c.1309-25C>A . . . C>A 1 . . g16 . . . . . . . . intron 11 complete 76 g16 ADAMTS13
178 rs782472621 Splicing Splicing c.1435+1dupG 133436954 2 1597288 0.00000125 Duplication 1 1435 1435 g16 1435 GG GGG . . . . . exon 12 . . . complete 38, 46 g16 ADAMTS13
179 . Splicing Splicing c.1435+2T>G . . . T>G 1 . . g16 . . . . . . . . intron 12 complete 319 g16 ADAMTS13
180 . Point Splicing c.1436-2A>T 1 . . A>T 1 . . g16 . . . . . . . . intron 12 complete 48 g16 ADAMTS13
181 . Deletion Deletion c.1460delG . . . Deletion 1 . . g16 . . . . . . Cys487Serfs*10 exon 13 complete 72, 332 g16 ADAMTS13
182 . Splicing Splicing c.1584+2T>A . . . T>A 1 . . g16 . . . . . . . . intron 13 complete 76 g16 ADAMTS13
183 . Splicing Splicing c.1585-1G>C . . . G>C 1 . . g16 . . . . . . . . intron 13 complete 76 g16 ADAMTS13
184 . Deletion Deletion c.1639_1640del . . . Deletion 1 1639 1639 g16 1639 . . . . . . p.Val547ValfsTer66 exon 14 complete 313 g16 ADAMTS13
185 . Deletion Deletion c.1649_1664del . . . Deletion . . . g16 . . . . . . . p.Gly550Alafs exon 14 complete 126 g16 ADAMTS13
186 . Deletion Deletion c.173-14_173-2del12 . . . Deletion 12 . . g16 . . . . . . . . intron 2 complete 7, 76 g16 ADAMTS13
187 . Deletion Deletion c.1783_1784delTT . . . Deletion 2 1783 1783 g16 1783 . . . . . . p.His594Leufs*18 exon 15 complete 183 g16 ADAMTS13
188 . Deletion Deletion c.1885delA . . . Deletion 1 1885 1885 g16 1885 . . . . Arg Glu p.Arg629Glufs*69 exon 16 complete 71, 93, 205 g16 ADAMTS13
189 . Duplication Duplication c.1908dupG . . . Duplication 1 1908 1908 g16 1908 . . . . . . p.Leu637Alafs*18 exon 16 complete 76 g16 ADAMTS13
190 . Deletion Deletion c.1999delA . . . Deletion 1 . . g16 . . . . . . p.Asn667ThrfsTer31 exon 17 complete 72, 332 g16 ADAMTS13
191 . Deletion Deletion c.2042delA . . . Deletion . . . g16 . . . . . Lys Cys p.Lys681Cysfs*16 exon 17 complete 71, 119 g16 ADAMTS13
192 . Splicing Splicing c.2104+1G>A . . . G>A 1 . . g16 . . . . . . . . intron 17 complete 76 g16 ADAMTS13
193 . Deletion Deletion c.2173delC . . . Deletion 1 . . g16 . . . . . . Gln725Lysfs*53 exon 18 complete 72, 332 g16 ADAMTS13
194 . Deletion Deletion c.2259delA . . . Deletion 1 2259 2259 g16 2259 . . . . Cys Ala p.Cys754Alafs*24 exon 19 complete 71, 205, 214 g16 ADAMTS13
195 . Deletion Deletion c.2321del . . . Deletion . 2321 2321 g16 2321 . . . . . . p.Gly774AlafsTer4 exon 19 complete 317 g16 ADAMTS13
196 . Deletion Deletion c.2348_2420+10del83 . . . Deletion 83 . . g16 . . . . . . . p.Ala783GlyfsTer36 exon 19 complete 220 g16 ADAMTS13
197 . Deletion Deletion c.2362_2363delGG . . . Deletion 2 . . g16 . . . . . . . . exon 19 complete 73 g16 ADAMTS13
198 . Deletion Deletion c.2364-2365delGG . . . Deletion . 2364 2364 g16 2364 . . . . . . p.Gly788Glyfs*56 exon 19 complete 304 g16 ADAMTS13
199 . Splicing Splicing c.2420+4_2420+19del 10 1544510 0.00000439 Deletion 16 . . g16 . . . . . . . . intron 19 complete 22, 332 g16 ADAMTS13
200 . Deletion Deletion c.2434_2441delinsC . . . Deletion . . . g16 . . . . . Glu Pro p.Glu812Profs*29 exon 20 complete 71, 205, 214 g16 ADAMTS13
201 . Deletion Deletion c.2455delG . . . Deletion 1 2455 2455 g16 2455 . . . . Ala Leu p.Ala819Leufs*24 exon 20 complete 7, 71, 139 g16 ADAMTS13
202 . Deletion Deletion c.2549_2550delAT . . . Deletion 2 2549 2549 g16 2549 . . . . . . . exon 20 complete 186, 305 g16 ADAMTS13
203 . Splicing Splicing c.2610+5G>C . . . G>C 1 . . g16 . . . . . . . . intron 20 complete 317 g16 ADAMTS13
204 . Point Splicing c.2731+1G>A . . . G>A 1 2731 2731 g16 2731 . . . . . . . exon 21 complete 71, 304 g16 ADAMTS13
205 . Point Splicing c.2731+1G>T . . . G>T 1 2731 2731 g16 2731 . . . . . . . exon 21 complete 71 g16 ADAMTS13
206 . Insertion Insertion c.2875_2876insT . . . Insertion 1 . . g16 . . . . . . . p.959Lfs29 exon 23 complete 73 g16 ADAMTS13
207 . Deletion Deletion c.291_319delGGAGGACACAGAGCGCTATGTGCTCACCA . . . Deletion 29 291 291 g16 291 . . . . . . p.Gln97fsTer31 exon 3 complete 233 g16 ADAMTS13
208 . Deletion Deletion c.2917_2918del . . . Deletion . . . g16 . . . . . . . p.Arg973Asnfs*14 exon 23 complete 77, 205 g16 ADAMTS13
209 . Deletion Deletion c.2939_2952del . . . Deletion 14 . . g16 . . . . . . . p.Ala980Glyfs*3 exon 23 complete 332 g16 ADAMTS13
210 . Deletion Deletion c.3015delA . . . Deletion 1 3015 3015 g16 3015 . . . . . . p.Ala1006Profs*115 exon 23 complete 311 g16 ADAMTS13
211 . Deletion Deletion c.3044+2430_3568+81del3291 . . . Deletion 3291 . . g16 . . . . . . . . exon 24, 25 complete 93 g16 ADAMTS13
212 . Deletion Deletion c.3220_3223del . . . Deletion . . . g16 . . . . . Tyr Ala p.Tyr1074Alafs*46 exon 24 complete 71, 205, 214 g16 ADAMTS13
213 . Deletion Deletion c.3254_3255delCT . . . Deletion 2 3254 3254 g16 3254 . . . . . . p.Ser1085Cysfs*12 exon 25 complete 76 g16 ADAMTS13
214 rs375415632 Point Splicing c.330+1G>A 133424479 2 1612710 0.00000124 G>A 1 330 330 g16 330 . . . . . . . intron 3 632036 Pathogenic/Likely pathogenic . complete 58, 71, 158, 304, 318, 332 g16 ADAMTS13
215 . Splicing Splicing c.330+3G>C . . . G>C 1 . . g16 . . . . . . . . intron 3 complete 76 g16 ADAMTS13
216 . Point Splicing c.331-2A>G 1 1612714 6.20E-07 A>G 1 331 331 g16 331 . . . . . . . intron 3 . complete 71 g16 ADAMTS13
217 . Deletion Deletion c.333delG . . . Deletion 1 . . g16 . . . . . . . . exon 4 complete 72, 332 g16 ADAMTS13
218 . Splicing Splicing c.3569-1G>A . . . G>A 1 3569 3569 g16 3569 . . . . . . . intron 25 complete 61 g16 ADAMTS13
219 . Deletion Deletion c.3587delA . . . Deletion 1 . . g16 . . . . . . . p.His1196Profs*30 exon 26 complete 109 g16 ADAMTS13
220 . Deletion Deletion c.3639-3640delTG . . . Deletion 2 3639 3639 g16 3639 . . . . . . p.Ala1214Serfs*17 exon 27 complete 304 g16 ADAMTS13
221 . Deletion Deletion c.365del18 . . . Deletion 18 365 365 g16 365 . . . . . . . exon 10 complete 165 g16 ADAMTS13
222 . Deletion Deletion c.3682delC . . . Deletion . 3682 3682 g16 3682 . . . . . . Arg1228Alafs*33 exon 26 complete 71 g16 ADAMTS13
223 . Deletion Deletion c.3751_3892+587del729 . . . Deletion . . . g16 . . . . . . . . exon 27 complete 71, 111, 205 g16 ADAMTS13
224 . Deletion Deletion c.386delG . . . Deletion 1 . . g16 . . . . . . . p.Val129GlyfsTer6 exon 4 complete 72 g16 ADAMTS13
225 rs1554796161 Point Splicing c.3892+1G>A 133456720 2 1558394 0.00000128 G>A 1 3892 3892 g16 3892 . . . . . . . intron 27 3065399 Likely pathogenic . complete 76 g16 ADAMTS13
226 . Deletion Deletion c.4014delA . . . Deletion 1 . . g16 . . . . . . . . exon 28 complete 72 g16 ADAMTS13
227 . Deletion Deletion c.4049delC . . . Deletion 1 . . g16 . . . . . . . p.Glu1351ArgfsTer9 exon 29 complete 98, 317 g16 ADAMTS13
228 . Insertion Insertion c.4091_4092insA . . . Insertion . . . g16 . . . . . . . p.His1364Glnfs*24 exon 29 complete 71 g16 ADAMTS13
229 . Deletion Deletion c.4119delG . . . Deletion . . . g16 . . . . . . . p.Gln1374Serfs*22 exon 29 complete 71, 205, 214, 245 g16 ADAMTS13
230 rs786205077 Point Splicing c.414+1G>A 133425613 1 1613404 6.20E-07 G>A 1 414 414 g16 414 . . . . . . . intron 4 5817 Pathogenic . complete 71, 179, 205, 214 g16 ADAMTS13
231 . Point Splicing c.415-10G>A . . . G>A 1 . . g16 . . . . . . . p.Gly139Valfs*17 exon 4 complete 205, 214, 226 g16 ADAMTS13
232 . Deletion Deletion c.437del . . . Deletion . . . g16 . . . . . . . p.Asn146fs exon 5 complete 332 g16 ADAMTS13
233 . Splicing Splicing c.539+1G>A . . . G>A 1 . . g16 . . . . . . . . intron 5 complete 317 g16 ADAMTS13
234 . Point Splicing c.687-2A>G . . . A>G 1 g16 . . . . . . . intron 6 complete 71, 172 g16 ADAMTS13
235 . Deletion Deletion c.687-2delA . . . Deletion 1 . . g16 . . . . . . . . intron 6 complete 220 g16 ADAMTS13
236 . Splicing Splicing c.687-7C>A 2 1315394 0.00000152 C>A 1 . . g16 . . . . . . . . intron 6 complete 76 g16 ADAMTS13
237 . Point Splicing c.688-8C>G . . . C>G 1 g16 . . . . . . . exon 7 complete 71 g16 ADAMTS13
238 . Duplication Duplication c.694dup . . . Duplication 1 694 694 g16 694 . . . . . . p.Leu232ProfsTer158 exon 7 complete 309 g16 ADAMTS13
239 . Deletion Deletion c.717delC . . . Deletion 1 717 717 g16 717 . . . . . . . exon 7 complete 121 g16 ADAMTS13
240 . Deletion Deletion c.718_724del . . . Deletion . . . g16 . . . . . . . . exon 7 complete 181 g16 ADAMTS13
241 . Deletion Deletion c.719_724del . . . Deletion 5 . . g16 . . . . . Gly Cys p.Gly241_Cys242del exon 7 complete 72, 138, 239 g16 ADAMTS13
242 . Deletion Deletion c.746_987+373del1782 . . . Deletion . . . g16 . . . . . . . . exon 7 complete 71, 111, 205 g16 ADAMTS13
243 . Deletion Deletion c.762_774del . . . Deletion 12 762 762 g16 762 . . . . . . p.Pro256Serfs*12 exon 7 complete 78 g16 ADAMTS13
244 . Deletion Deletion c.794_803del . . . Deletion 10 794 794 g16 794 . . . . . . p.Arg267CysfsTer2 exon 7 complete 317 g16 ADAMTS13
245 . Insertion Insertion c.82_83insT . . . Insertion 1 82 82 g16 82 . . . . . . p.Cys27fs*138 exon 1 complete 72, 163, 239, 332 g16 ADAMTS13
246 . Splicing Splicing c.987+5G>A 2 1576938 0.00000126 G>A 1 . . g16 . . . . . . . . intron 8 complete 317 g16 ADAMTS13
247 rs1554787761 Point Splicing c.988-2A>C 133432586 6 1550986 0.00000386 A>C 1 988 988 g16 988 . . . . . . . intron 8 . . . complete 7, 103 g16 ADAMTS13
248 . Duplication frameshift_variant c.(686+1789_988-12)_(1308+159_1309-1725)dup . . . Duplication . . . g16 . . . . . . . . exon 9,10,11 complete 2 g16 ADAMTS13
249 rs782716712 Point missense_variant c.305G>A 133424453 161 1613698 0.00009977 G>A 1 305 305 g16 305 CGC CAC 102 102 Arg His p.Arg102His exon 3 2683660 Likely pathogenic . complete 71, 72, 138, 239, 332 g16 ADAMTS13
250 . Point missense_variant c.3070T>C 1 1613814 6.20E-07 T>C 1 3070 3070 g16 3070 TGT CGT 102 102 Cys Arg p.Cys1024Arg exon 24 . complete 71, 249 g16 ADAMTS13
251 . Point nonsense_variant c.3121C>T 1 1612934 6.20E-07 C>T 1 3121 3121 g16 3121 CAG TAG 104 104 Gln Ter p.Gln1041Ter exon 24 . complete 59 g16 ADAMTS13
252 rs782288601 Deletion frameshift_variant c.3198_3199del 133454567 17 1607616 0.00001057 Deletion 2 3198 3198 g16 3198 CCT C 106 106 Cys Ser p.Cys1067SerfsTer30 exon 24 2136834 Pathogenic . complete 7, 71, 205 g16 ADAMTS13
253 rs1842671370 Point missense_variant c.3265G>T 133455300 2 1603040 0.00000124 G>T 1 3265 3265 g16 3265 GGG TGG 108 108 Gly Trp p.Gly1089Trp exon 25 . . . complete 39, 67 g16 ADAMTS13
254 rs1466092212 Point missense_variant c.327C>G 7 1613104 0.00000433 C>G 1 327 327 g16 327 AAC AAG 109 109 Asn Lys p.Asn109Lys exon 3 . . . complete 1 g16 ADAMTS13
255 rs782383410 Point missense_variant c.3283C>T 7 1606014 0.00000435 C>T 1 3283 3283 g16 3283 CGG TGG 109 109 Arg Trp p.Arg1095Trp exon 25 3496730 Uncertain significance . complete 48, 72, 135, 168, 307, 319, 321 g16 ADAMTS13
256 rs373569027 Point missense_variant c.3284G>A 5 1606252 0.00000311 G>A 1 3284 3284 g16 3284 CGG CAG 109 109 Arg Gln p.Arg1095Gln exon 25 1050736 Conflicting classifications of pathogenicity complete 93, 138, 233, 332 g16 ADAMTS13
257 . Point nonsense_variant c.3313C>T 1 1610814 6.21E-07 C>T 1 3313 3313 g16 3313 CAG TAG 110 110 Gln Ter p.Gln1105Ter exon 25 . complete 7, 139 g16 ADAMTS13
258 . Point missense_variant c.332G>A 1 1613014 6.20E-07 G>A 1 332 332 g16 332 GGG GAG 111 111 Gly Glu p.Gly111Glu exon 4 . complete 59 g16 ADAMTS13
259 rs782818582 Point nonsense_variant c.3616C>T 13 1613236 0.00000805 C>T 1 3616 3616 g16 3616 CGA TGA 120 120 Arg Ter p.Arg1206Ter exon 26 2735365 Pathogenic . complete 48, 71, 72, 93, 205, 239, 241, 274, 332 g16 ADAMTS13
260 rs1554795860 Point missense_variant c.3637T>C 2 1613454 0.00000124 T>C 1 3637 3637 g16 3637 TGT CGT 121 121 Cys Arg p.Cys1213Arg exon 26 3894576 Likely pathogenic . complete 205 g16 ADAMTS13
261 rs121908474 Point missense_variant c.3638G>A 1 1613358 6.20E-07 G>A 1 3638 3638 g16 3638 TGT TAT 121 121 Cys Tyr p.Cys1213Tyr exon 26 5808 Pathogenic Pathogenic complete 95, 188, 264 g16 ADAMTS13
262 rs200847393 Point missense_variant c.3650T>C 31 1613472 0.00001921 T>C 1 3650 3650 g16 3650 ATT ACT 121 121 Ile Thr p.Ile1217Thr exon 26 1343360 Pathogenic Pathogenic complete 63, 71, 102, 122, 158, 237 g16 ADAMTS13
263 rs281875339 Point missense_variant c.3655C>T 7 1613402 0.00000433 C>T 1 3655 3655 g16 3655 CGG TGG 121 121 Arg Trp p.Arg1219Trp exon 26 68818 Not provided not provided complete 121, 163, 220, 233, 246 g16 ADAMTS13
264 rs782649881 Point missense_variant c.3656G>A 39 1613420 0.00002417 G>A 1 3656 3656 g16 3656 CGG CAG 121 121 Arg Gln p.Arg1219Gln exon 26 1163512 Likely pathogenic Uncertain significance complete 56, 72, 93, 239, 332 g16 ADAMTS13
265 rs1564445915 Duplication frameshift_variant c.3779dupT 133456605 3 1613048 0.00000186 Duplication 1 3779 3779 g16 3779 ATG ATTG 126 126 Met Ile p.Met1260IlefsTer34 exon 27 . . . complete 101, 188 g16 ADAMTS13
266 rs371964138 Point missense_variant c.3820C>T 133456647 175 1606026 0.000109 C>T 1 3820 3820 g16 3820 CGC TGC 127 127 Arg Cys p.Arg1274Cys exon 27 2175504 Uncertain significance Uncertain significance complete 253 g16 ADAMTS13
267 rs782463983 Point nonsense_variant c.3825C>A 133456652 1 1604616 6.23E-07 C>A 1 3825 3825 g16 3825 TGC TGA 127 127 Cys Ter p.Cys1275Ter exon 27 3234066 Likely pathogenic Likely pathogenic complete 312 g16 ADAMTS13
268 rs2130956441 Point nonsense_variant c.3904C>T 133457921 1 1613832 6.20E-07 C>T 1 3904 3904 g16 3904 CAG TAG 130 130 Gln Ter p.Gln1302Ter exon 28 . . . complete 71 g16 ADAMTS13
269 rs281875308 Point missense_variant c.4006C>T 133458023 17 1613338 0.00001054 C>T 1 4006 4006 g16 4006 CGG TGG 133 133 Arg Trp p.Arg1336Trp exon 28 68821 Not provided not provided complete 48, 71, 182, 205, 216 g16 ADAMTS13
270 rs782213090 Point missense_variant c.4007G>A 133458024 28 1613314 0.00001736 G>A 1 4007 4007 g16 4007 CGG CAG 133 133 Arg Gln p.Arg1336Gln exon 28 1050245 Uncertain significance Uncertain significance complete 1 g16 ADAMTS13
271 . Point missense_variant c.4085A>T . . 2.0538E-06 A>T 1 4085 4085 g16 4085 Limited info 136 136 Asp Val p.Asp1362Val exon 29 . complete 7, 248, 317 g16 ADAMTS13
272 rs1361529166 Point missense_variant c.4135T>C 133459031 5 1613096 0.0000031 T>C 1 4135 4135 g16 4135 TGG CGG 137 137 Trp Arg p.Trp1379Arg exon 29 . . . complete 71 g16 ADAMTS13
273 rs387906343 Duplication frameshift_variant c.4143dupA 133459038 83 1613066 0.00005145 Duplication 1 4143 4143 g16 4143 A AA 138 138 Glu Arg p.Glu1382ArgfsTer6 exon 29 5807 Pathogenic Pathogenic complete 31, 47, 71, 72, 93, 95, 116, 125, 149, 153, 164, 180, 181, 185, 186, 220, 233, 240, 265, 305, 307, 310, 330, 332 g16 ADAMTS13
274 . Point missense_variant c.4184T>C . . 1.5935E-06 T>C 1 418 418 g16 418 Limited Info 139 139 Leu Pro p.Leu1395Pro exon 29 . complete 105 g16 ADAMTS13
275 rs1386875680 Point missense_variant c.448T>C 133425971 3 1613748 0.00000185 T>C 1 448 448 g16 448 TCC CCC 150 150 Ser Pro p.Ser150Pro exon 5 . . . complete 321 g16 ADAMTS13
276 . Point nonsense_variant c.470G>A 1 1614008 6.20E-07 G>A 1 470 470 g16 470 TGG TAG 157 157 Trp Ter p.Trp157Ter exon 5 . complete 305 g16 ADAMTS13
277 rs1554785228 Point missense_variant c.548T>A 133426207 5 1613920 0.00000309 T>A 1 548 548 g16 548 CTG CAG 183 183 Leu Gln p.Leu183Gln exon 6 . . . complete 55, 71 g16 ADAMTS13
278 rs148312697 Point missense_variant c.559G>C 133426218 640 1613864 0.0003966 G>C 1 559 559 g16 559 GAT CAT 187 187 Asp His p.Asp187His exon 6 632074 Conflicting classifications of pathogenicity Conflicting interpretations of pathogenicity complete 7, 103, 104, 332 g16 ADAMTS13
279 rs281875287 Point missense_variant c.577C>T 133426236 19 1613296 0.00001178 C>T 1 577 577 g16 577 CGG TGG 193 193 Arg Trp p.Arg193Trp exon 6 68823 Likely pathogenic Likely pathogenic complete 42, 51, 71, 120, 179, 205, 214, 317 g16 ADAMTS13
280 rs782083669 Point missense_variant c.578G>A 133426237 17 1613304 0.00001054 G>A 1 578 578 g16 578 CGG CAG 193 193 Arg Gln p.Arg193Gln exon 6 . . . complete 22, 135, 321 g16 ADAMTS13
281 rs1554785242 Point missense_variant c.581G>T 133426240 6 1613386 0.00000371 G>T 1 581 581 g16 581 GGC GTC 194 194 Gly Val p.Gly194Val exon 6 559578 Uncertain significance Uncertain significance complete 1 g16 ADAMTS13
282 rs121908470 Point missense_variant c.587C>T 133426246 43 1612994 0.00002666 C>T 1 587 587 g16 587 ACC ATC 196 196 Thr Ile p.Thr196Ile exon 6 5801 Pathogenic Pathogenic complete 72, 138, 180, 188, 332 g16 ADAMTS13
283 rs782305581 Point missense_variant c.649G>C 133426308 35 1605180 0.0000218 G>C 1 649 649 g16 649 GAC CAC 217 217 Asp His p.Asp217His exon 6 303567 Uncertain significance Pathogenic complete 23, 72, 138, 239, 332 g16 ADAMTS13
284 . Point missense_variant c.655G>C 1 1604244 6.23E-07 G>C 1 655 655 g16 655 GGA CGA 219 219 Gly Arg p.Gly219Arg exon 6 . complete 76 g16 ADAMTS13
285 . Point missense_variant c.679G>A 2 1601078 0.00000124 G>A 1 679 679 g16 679 GGG AGG 227 227 Gly Arg p.Gly227Arg exon 6 . complete 205, 214 g16 ADAMTS13
286 rs281875292 Point missense_variant c.695T>A 133428642 1 1273534 7.85E-07 T>A 1 695 695 g16 695 CTG CAG 232 232 Leu Gln p.Leu232Gln exon 7 68825 Not provided not provided complete 71, 93, 95, 186, 305, 312 g16 ADAMTS13
287 rs1047417075 Point missense_variant c.697G>A 133428644 3 1349594 0.00000222 G>A 1 697 697 g16 697 GAG AAG 233 233 Glu Lys p.Glu233Lys exon 7 . . . complete 72 g16 ADAMTS13
288 . Point missense_variant c.701A>G 1 1301504 7.68E-07 A>G 1 701 701 g16 701 CAC CGC 234 234 His Arg p.His234Arg exon 7 . complete 71, 205, 214 g16 ADAMTS13
289 rs281875337 Point missense_variant c.703G>T 133428650 3 1315750 0.00000228 G>T 1 703 703 g16 703 GAC TAC 235 235 Asp Tyr p.Asp235Tyr exon 7 2136831 Conflicting classifications of pathogenicity Uncertain significance complete 220, 233, 312, 321 g16 ADAMTS13
290 rs781916049 Point missense_variant c.706G>T 133428653 3 1332712 0.00000225 G>T 1 706 706 g16 706 GGC TGC 236 236 Gly Cys p.Gly236Cys exon 7 . . . complete 71, 72, 139, 321, 332 g16 ADAMTS13
291 . Deletion Deletion c.724_729del 4 1344332 0.00000297 Deletion 6 724 724 g16 724 AGCGGCT A 242 242 Cys Gly p.Cys242_Gly243del exon 7 . complete 332 g16 ADAMTS13
292 rs121908478 Point missense_variant c.749C>T 133428696 1 1361142 7.33E-07 C>T 1 749 749 g16 749 GCT GTT 250 250 Ala Val p.Ala250Val exon 7 5818 Pathogenic Pathogenic complete 71, 174 g16 ADAMTS13
293 . Duplication frameshift_variant c.768_774dup 7 1354224 0.00000516 Duplication 7 768 768 g16 768 G GCCGCGCC 259 259 Gly Pro p.Gly259ProfsTer133 exon 7 . complete 82, 220, 317 g16 ADAMTS13
294 . Point missense_variant c.788C>T 3 1385824 0.00000220 C>T 1 788 788 g16 788 TCC TTC 263 263 Ser Phe p.Ser263Phe exon 7 . complete 134 g16 ADAMTS13
295 . Point missense_variant c.796A>T 4 1355842 0.00000295 A>T 1 796 796 g16 796 AGC TGC 266 266 Ser Cys p.Ser266Cys exon 7 . complete 186, 332 g16 ADAMTS13
296 rs121908477 Point missense_variant c.803G>C 133428750 1 1353572 7.39E-07 G>C 1 803 803 g16 803 CGG CCG 268 268 Arg Pro p.Arg268Pro exon 7 5812 Pathogenic Pathogenic complete 71, 72, 76, 138, 161, 176, 187, 205, 214, 332 g16 ADAMTS13
297 rs281875285 Point missense_variant c.911A>G 133430025 4 1592376 0.00000251 A>G 1 911 911 g16 911 TAC TGC 304 304 Tyr Cys p.Tyr304Cys exon 8 68829 Uncertain significance not provided complete 71, 205, 214 g16 ADAMTS13
298 rs1840627224 Point nonsense_variant c.915C>A 133430029 13 1593666 0.00000815 C>A 1 915 915 g16 915 TAC TAA 305 305 Tyr Ter p.Tyr305Ter exon 8 . . . complete 72, 332 g16 ADAMTS13
299 rs1554786790 Point missense_variant c.934C>T 133430048 6 1595774 4.1567E-06 C>T 1 934 934 g16 934 CGC TGC 312 312 Arg Cys p.Arg312Cys exon 8 . . . complete 71, 205 g16 ADAMTS13
300 rs931645668 Point missense_variant c.964T>G 133430078 8 1593086 0.00000502 T>G 1 964 964 g16 964 TGC GGC 322 322 Cys Gly p.Cys322Gly exon 8 . . . complete 76, 269 g16 ADAMTS13
301 rs281875294 Point missense_variant c.1039T>A 133432639 1 1559254 6.41E-07 T>A 1 1039 1039 g16 1039 TGC AGC 347 347 Cys Ser p.Cys347Ser exon 9 68798 Not provided not provided complete 164 g16 ADAMTS13
302 . Point missense_variant c.1039T>C 1 1559254 6.41E-07 T>C 1 1039 1039 g16 1039 TGC CGC 347 347 Cys Arg p.Cys347Arg exon 9 . complete 71 g16 ADAMTS13
303 rs281875288 Point missense_variant c.1045C>T 133432645 5 1559654 0.00000320 C>T 1 1045 1045 g16 1045 CGC TGC 349 349 Arg Cys p.Arg349Cys exon 9 68799 Pathogenic Pathogenic complete 71, 72, 149, 256, 295, 311, 312, 332 g16 ADAMTS13
304 rs374655146 Point nonsense_variant c.1169G>A 133433454 6 1613390 3.7189E-06 G>A 1 1169 1169 g16 1169 TGG TAG 390 390 Trp Ter p.Trp390Ter exon 10 1804165 Pathogenic Pathogenic complete 7, 71, 186, 305 g16 ADAMTS13
305 rs281875306 Point missense_variant c.1170G>C 133433455 1 1613548 6.20E-07 G>C 1 1170 1170 g16 1170 TGG TGC 390 390 Trp Cys p.Trp390Cys exon 10 68801 Not provided not provided complete 275, 305 g16 ADAMTS13
306 rs782570540 Point nonsense_variant c.1177C>T 133433462 15 1613468 9.2967E-06 C>T 1 1177 1177 g16 1177 CGA TGA 393 393 Arg Ter p.Arg393Ter exon 10 1163033 Pathogenic Pathogenic complete 220 g16 ADAMTS13
307 . Point missense_variant c.1187G>A 1 1613622 6.20E-07 G>A 1 1187 1187 g16 1187 TGC TAC 396 396 Cys Tyr p.Cys396Tyr exon 10 . complete 28, 49 g16 ADAMTS13
308 rs1564418207 Point missense_variant c.1190C>T 133433475 1 1613622 6.8428E-07 C>T 1 1190 1190 g16 1190 TCC TTC 397 397 Ser Phe p.Ser397Phe exon 10 . . . complete 71, 205 g16 ADAMTS13
309 rs376606652 Point missense_variant c.1192C>T 133433477 6 1613584 0.00000371 C>T 1 1192 1192 g16 1192 CGC TGC 398 398 Arg Cys p.Arg398Cys exon 10 1700239 Likely pathogenic Likely pathogenic complete 71, 72, 138, 205, 214, 245, 309, 332 g16 ADAMTS13
310 rs121908471 Point missense_variant c.1193G>A 133433478 5 1613330 0.00000657 G>A 1 1193 1193 g16 1193 CGC CAC 398 398 Arg His p.Arg398His exon 10 5802 Likely pathogenic Pathogenic complete 71, 76, 188, 205, 214, 329, 332 g16 ADAMTS13
311 rs782033728 Point missense_variant c.1201G>A 133433486 6 1613396 0.00000371 G>A 1 1201 1201 g16 1201 GGA AGA 401 401 Gly Arg p.Gly401Arg exon 10 2152073 Uncertain significance Uncertain significance complete 67, 72, 239, 332 g16 ADAMTS13
312 rs959872423 Point missense_variant c.1225C>T 133433510 7 1613404 0.00000433 C>T 1 1225 1225 g16 1225 CGG TGG 409 409 Arg Trp p.Arg409Trp exon 10 1406149 Uncertain significance Uncertain significance complete 72, 138, 205, 214, 317, 332 g16 ADAMTS13
313 rs587642546 Point missense_variant c.1308G>C 11 1613240 0.00005938 G>C 1 1308 1308 g16 1308 CAG CAC 436 436 Gln His p.Gln436His exon 11 . complete 72, 76, 138, 321, 332 g16 ADAMTS13
314 rs1841265398 Point missense_variant c.1313G>T 4 1568512 0.00000255 G>T 1 1313 1313 g16 1313 TGC TTC 438 438 Cys Phe p.Cys438Phe exon 12 . complete 71, 205 g16 ADAMTS13
315 rs121908476 Point nonsense_variant c.1345C>T 1 1586916 6.6203E-06 C>T 1 1345 1345 g16 1345 CAG TAG 449 449 Gln Ter p.Gln449Ter exon 12 . complete 48, 71, 187, 205, 214, 245 g16 ADAMTS13
316 rs36220240 Point missense_variant c.1370C>T 3363 1587272 0.002119 C>T 1 1370 1370 g16 1370 CCG CTG 457 457 Pro Leu p.Pro457Leu exon 12 Conflicting complete 78, 181 g16 ADAMTS13
317 rs782242503 Deletion frameshift_variant c.1456_1457delAT 11 1613790 0.00000681 Deletion 2 1456 1456 g16 1456 AT 486 486 Met Val p.Met486ValfsTer47 exon 13 . complete 71, 239, 332 g16 ADAMTS13
318 rs201457594 Point missense_variant c.1492C>T 22 1613958 0.00001363 C>T 1 1492 1492 g16 1492 CGT TGT 498 498 Arg Cys p.Arg498Cys exon 13 Likely pathogenic complete 82, 239, 332 g16 ADAMTS13
319 rs281875305 Point missense_variant c.1523G>A 3 1614000 0.00000185 G>A 1 1523 1523 g16 1523 TGT TAT 508 508 Cys Tyr p.Cys508Tyr exon 13 not provided complete 71, 187, 205, 214 g16 ADAMTS13
320 rs121908473 Point missense_variant c.1582A>G 1 1613470 6.20E-07 A>G 1 1582 1582 g16 1582 AGG GGG 528 528 Arg Gly p.Arg528Gly exon 13 Pathogenic complete 188 g16 ADAMTS13
321 rs782077726 Point Splicing c.1786+1G>A 1 1613578 6.20E-07 G>A 1 1786 1786 g16 1786 569 569 . . p.Glu569Alafs*27 intron 15 . complete 140 g16 ADAMTS13
322 . Point missense_variant c.1709A>G 1 1609496 6.21E-07 A>G 1 1709 1709 g16 1709 TAT TGT 570 570 Tyr Cys p.Tyr570Cys exon 14 . complete 118 g16 ADAMTS13
323 . Point missense_variant c.1760A>C 1 1614094 6.20E-07 A>C 1 1760 1760 g16 1760 AAC ACC 587 587 Asn Thr p.Asn587Thr exon 14 . complete 205, 214 g16 ADAMTS13
324 rs281875299 Point missense_variant c.1787C>T 11 1613954 0.00000681 C>T 1 1787 1787 g16 1787 GCG GTG 596 596 Ala Val p.Ala596Val exon 16 Pathogenic complete 55, 72, 76, 87, 138, 161, 176, 205, 214, 239, 266, 332 g16 ADAMTS13
325 rs281875290 Point missense_variant c.1816G>C 12 1613854 0.00000743 G>C 1 1816 1816 g16 1816 GCT CCT 606 606 Ala Pro p.Ala606Pro exon 16 not provided complete 71, 205 g16 ADAMTS13
326 rs782547718 Point missense_variant c.1921G>A 20 1612904 0.0000124 G>A 1 1921 1921 g16 1921 GAG AAG 641 641 Glu Lys p.Glu641Lys exon 16 Likely pathogenic complete 46, 72, 239, 313, 332 g16 ADAMTS13
327 . Deletion frameshift_variant c.1922delA 1 1613022 6.20E-07 Deletion 1 1922 1922 g16 1922 641 641 Glu Gly p.Glu641GlyfsTer57 exon 16 . complete 126 g16 ADAMTS13
328 rs281875335 Point missense_variant c.1973A>G 1 1613820 6.5694E-06 A>G 1 1973 1973 g16 1973 TAC TGC 658 658 Tyr Cys p.Tyr658Cys exon 17 not provided complete 143 g16 ADAMTS13
329 rs150764227 Point missense_variant c.1976G>A 394 1613830 0.0002441 G>A 1 1976 1976 g16 1976 AGG AAG 659 659 Arg Lys p.Arg659Lys exon 17 Uncertain significance complete 72, 332 g16 ADAMTS13
330 . Deletion frameshift_variant c.2000delA 4 1613906 0.00000247 Deletion 1 2000 2000 g16 2000 CA C 667 667 Asn Thr p.Asn667ThrfsTer31 exon 17 . complete 93, 239 g16 ADAMTS13
331 rs281875295 Point missense_variant c.2012C>T 1 1613912 6.20E-07 C>T 1 2012 2012 g16 2012 CCA CTA 671 671 Pro Leu p.Pro671Leu exon 17 not provided complete 312 g16 ADAMTS13
332 rs281875307 Point missense_variant c.2017A>T 11 1613856 0.00000681 A>T 1 2017 2017 g16 2017 ATC TTC 673 673 Ile Phe p.Ile673Phe exon 17 Likely pathogenic complete 21, 71, 72, 179, 205, 214, 226, 332 g16 ADAMTS13
333 rs374840594 Point missense_variant c.2068G>A 26 1613686 0.00001611 G>A 1 2068 2068 g16 2068 GCT ACT 690 690 Ala Thr p.Ala690Thr exon 17 Likely pathogenic complete 72, 131, 138, 239, 332 g16 ADAMTS13
334 rs2130875779 Point missense_variant c.2085C>G 1 1613678 6.20E-07 C>G 1 2085 2085 g16 2085 TGC TGG 695 695 Cys Trp p.Cys695Trp exon 17 . complete 76 g16 ADAMTS13
335 rs782400086 Point nonsense_variant c.2115G>A 1 1613256 6.20E-07 G>A 1 2115 2115 g16 2115 TGG TGA 705 705 Trp Ter p.Trp705Ter exon 18 . complete 1 g16 ADAMTS13
336 rs138014548 Point missense_variant c.2167C>A 252 1613142 0.0001562 C>A 1 2167 2167 g16 2167 CAG AAG 723 723 Gln Lys p.Gln723Lys exon 18 Conflicting interpretations of pathogenicity complete 71, 205, 214, 245 g16 ADAMTS13
337 rs1554791473 Point missense_variant c.2260T>C 3 1598838 0.00000187 T>C 1 2260 2260 g16 2260 TGC CGC 754 754 Cys Arg p.Cys754Arg exon 19 . complete 78, 138, 332 g16 ADAMTS13
338 . Deletion frameshift_variant c.2279delG 2 1599284 0.00000125 Deletion 1 2279 2279 g16 2279 . . 760 760 Gly Ala p.Gly760Alafs*18 exon 19 . complete 71, 72, 181, 332 g16 ADAMTS13
339 rs782542048 Point missense_variant c.2281G>A 4 1597350 0.00000250 G>A 1 2281 2281 g16 2281 GGC AGC 761 761 Gly Ser p.Gly761Ser exon 19 . complete 71, 125, 220, 233, 332 g16 ADAMTS13
340 rs782614158 Point missense_variant c.2293C>T 22 1595152 0.00001379 C>T 1 2293 2293 g16 2293 CGG TGG 765 765 Arg Trp p.Arg765Trp exon 19 Uncertain significance complete 300 g16 ADAMTS13
341 rs1376759965 Point nonsense_variant c.2317C>T 6 1592372 0.00000376 C>T 1 2317 2317 g16 2317 CAG TAG 773 773 Gln Ter p.Gln773Ter exon 19 . complete 1 g16 ADAMTS13
342 rs387906342 Deletion frameshift_variant c.2376_2401del 1 1578458 6.34E-07 Deletion 26 2376 2376 g16 2376 CCAGCTGTGGCGCTGGAAACCTGCAACC 793 793 Ala Pro p.Ala793ProfsTer43 exon 19 Pathogenic complete 188 g16 ADAMTS13
343 rs754909071 Point missense_variant c.2410T>C 2 1553726 0.00000128 T>C 1 2410 2410 g16 2410 TGC CGC 804 804 Cys Arg p.Cys804Arg exon 19 . complete 69, 71, 95 g16 ADAMTS13
344 rs1554792374 Point nonsense_variant c.2674C>T 3 1609534 0.00000186 C>T 1 2674 2674 g16 2674 CAA TAA 892 892 Gln Ter p.Gln892Ter exon 21 . complete 71, 205 g16 ADAMTS13
345 rs281875301 Point missense_variant c.2723G>A 2 1582032 0.00000126 G>A 1 2723 2723 g16 2723 TGC TAC 908 908 Cys Tyr p.Cys908Tyr exon 21 . complete 71, 93, 102, 122, 179, 205, 214, 269, 332 g16 ADAMTS13
346 rs138742754 Point missense_variant c.2725G>A 237 1580338 0.00000696 G>A 1 2725 2725 g16 2725 GGG AGG 909 909 Gly Arg p.Gly909Arg exon 21 . complete 214 g16 ADAMTS13
347 rs781844824 Point nonsense_variant c.2728C>T 13 1578650 0.00000823 C>T 1 2728 2728 g16 2728 CGA TGA 910 910 Arg Ter p.Arg910Ter exon 21 Pathogenic complete 71, 72, 80, 138, 181, 186, 305, 317, 332 g16 ADAMTS13
348 . Point missense_variant c.2836T>C 3 1603352 0.00000187 T>C 1 2836 2836 g16 2836 TGC CGC 946 946 Cys Arg p.Cys946Arg exon 22 . complete 71, 76, 271 g16 ADAMTS13
349 rs121908468 Point missense_variant c.2851T>G 5 1601482 0.00000312 T>G 1 2851 2851 g16 2851 TGC GGC 951 951 Cys Gly p.Cys951Gly exon 22 Pathogenic complete 188 g16 ADAMTS13
350 rs782315945 Point missense_variant c.2914C>T 18 1613892 0.00001115 C>T 1 2914 2914 g16 2914 CGG TGG 972 972 Arg Trp p.Arg972Trp exon 23 Uncertain significance complete 78 g16 ADAMTS13
351 . Point missense_variant c.2929T>C 2 1614040 0.00000123 T>C 1 2929 2929 g16 2929 TGT CGT 977 977 Cys Arg p.Cys977Arg exon 23 . complete 76, 332 g16 ADAMTS13
352 . Deletion frameshift_variant c.1199del . . . Deletion 1 1199 1199 g16 1199 . . . . . . . exon 10 Pathogenic complete 6 g16 ADAMTS13
353 . Insertion insertion c.1584+442_1969-338delins2730_2731+660 . . . Insertion . g16 . . . . . . . . intron 13 complete 292 g16 ADAMTS13
354 . Deletion deletion c.1615del . . . Deletion . g16 . . . . . . . . exon 14 complete 292 g16 ADAMTS13
355 . Point nonsense_variant c.2032C>A . . . C>A 1 2032 g16 . . . . . Tyr Ter p.Tyr677Ter exon 17 complete 17 g16 ADAMTS13
356 . Duplication Duplication c.2119_2150dup . . . Duplication . g16 . . . . . 759 . . exon 18 complete 292 g16 ADAMTS13
357 . Deletion Deletion c.2882delC . . . Deletion . g16 . . . . . . . p.Cys962Alafs*3 exon 23 complete 294 g16 ADAMTS13
358 . Insertion Insertion c.3769insT . . . Insertion 1 3769 3769 g16 3769 . . . . . . Frameshift exon 27 complete 188 g16 ADAMTS13
359 . Deletion deletion c.781del . . . Deletion . g16 . . . . . . . . exon 7 complete 292 g16 ADAMTS13
360 . Deletion Deletion c.825-10_843del29 . . . Deletion 29 g16 . . . . . . . . exon 8 Pathogenic complete 12, 76, 139 g16 ADAMTS13
361 rs1842763401 Point missense_variant c.3633C>G . . . C>G 1 3633 3633 g16 3633 AAC AAG 1211 1211 Asn Lys p.Asn1211Lys exon 26 complete 332 g16 ADAMTS13
362 rs782729077 Point missense_variant c.3688T>A 1 1587102 6.30E-07 T>A 1 3688 3688 g16 3688 TAT AAT 1230 1230 Tyr Asn p.Tyr1230Asn exon 26 complete 332 g16 ADAMTS13
363 . Point missense_variant c.3829C>T . . . C>T 1 3829 3829 g16 3829 CCG TCG 1277 1277 Pro Ser p.Pro1277Ser exon 27 complete 332 g16 ADAMTS13
364 . Point missense_variant c.3338G>A . . . G>A 1 3338 3338 g16 3338 TGC TAC 1113 1113 Cys Tyr p.Cys1113Tyr exon 25 complete 322 g16 ADAMTS13
365 . Point missense_variant c.1192C>G . . . C>G 1 1192 1192 g16 1192 CGC GGC 398 398 Arg Gly p.Arg398Gly exon 10 complete 324 g16 ADAMTS13
366 . Point nonsense_variant c.2167C>T 133442676 . . . C>T 1 2167 2167 g16 2167 CAG TAG 723 723 Gln Ter p.Gln723Ter exon 18 Described in neonatal case report complete 326 g16 ADAMTS13
367 . Duplication Duplication g.133431780_133434514dup 133431780 . . . Duplication 2734 . . g16 . . . . . . . . exon 9,10,11 Described in neonatal case report complete 326 g16 ADAMTS13
368 . Point missense_variant c.946G>C 133430060 . . . G>C 1 946 946 g16 946 GGC CGC 316 316 Gly Arg p.Gly316Arg exon 8 complete 328 g16 ADAMTS13
369 rs909831139 Point missense_variant c.1519C>T 133437832 7 1613928 0.00000433 C>T 1 1519 1519 g16 1519 CGG TGG 507 507 Arg Trp p.Arg507Trp exon 13 complete 328 g16 ADAMTS13
370 . Point missense_variant c.3746G>T 133457931 . . . G>T 1 3746 3746 g16 3746 GGG GTG 1249 1249 Gly Val p.Gly1249Val exon 28 Reported at amino acid 1305, converted to 1249 complete 329 g16 ADAMTS13
371 rs1842763401 Point missense_variant c.3633C>G 133456628 7 1612052 0.00000434 C>G 1 3633 3633 g16 3633 AAC AAG 1211 1211 Asn Lys p.Asn1211Lys exon 27 In paper this is mapped to 290.1, changed to 699.7 complete 330 g16 ADAMTS13
372 rs2130881785 Point missense_variant c.2411G>A 133443552 3 1552330 0.00000193 G>A 1 2411 2411 g16 2411 TGC TAC 804 804 Cys Tyr p.Cys804Tyr exon 19 1163036 Uncertain significance complete 331 g16 ADAMTS13
373 Point Splicing c.1308+1G>T G>T 1 . . g16 . . . . . . . . intron complete 118 g16 ADAMTS13
374 Point missense_variant c.1403C>G C>G 1 1403 1403 g16 1403 448 448 Gln Glu p.Gln448Glu exon 12 complete 187, 273, 277 g16 ADAMTS13
375 Point g16 p.Trp28Leufs*111 complete 233 g16 ADAMTS13
376 Point missense_variant c.3735G>A G>A 1 3735 3735 g16 3735 Trp Ter p.Trp1245Ter exon 27 complete 264, 275, 305 g16 ADAMTS13
377 Point missense_variant g16 1240 1240 Asp Tyr p.Asp1240Tyr 317 g16 ADAMTS13
378 Point missense_variant c.2218G>A G>A 1 2218 2218 g16 2218 740 740 Glu Lys p.Glu740Lys 78 g16 ADAMTS13
379 Point missense_variant c.3287G>A G>A 1 3287 3287 g16 3287 1096 1096 Arg His p.Arg1096His 78 g16 ADAMTS13
380 Point missense_variant 997 997 Cys Phe p.Cys997Phe exon 23 72 g16 ADAMTS13
381 Deletion Deletion c.2939_2952del . . . . . . 72 g16 ADAMTS13
382 Point missense_variant c.3801C>G C>G 1 3801 3801 g16 3801 1267 1267 Asn Lys p.Asn1267Lys exon 27 332 g16 ADAMTS13
383 Point missense_variant c.3856T>A T>A 1 3856 3856 g16 3856 1286 1286 Tyr Asn p.Tyr1286Asn exon 27 332 g16 ADAMTS13
384 Point missense_variant c.3997C>T C>T 1 3997 3997 g16 3997 1333 1333 Pro Ser p.Pro1333Ser exon 28 332 g16 ADAMTS13
385 Point Splicing c.988-2A>G 133432586 A>G 1 988 988 g16 988 . . . . . . . intron 8 . . . complete 76 g16 ADAMTS13