LDLR Locus - Mutation List

This page contains a list of all known mutations of the LDLR gene, ordered approximately by position along the gene. Each entry contains various links:

422: del e1-2, 20kb (FH Siracusa-3)

References


108: del e1-6, >25kb (FH Bologna-1)

References


107: del e1, 6kb (FH Denver-1)

References


433: del e1-2, 20kb (FH Valencia-1)

References


106: del e1, >15kb (FH French Canadian-1)

References


437: del prom-e1,18.5kb (FH Valencia-5)

References


602: del e1-6, >10.5kb

References


709: del 2 at 694

References


246: C>A at -146

References


292: C>T at -136

References


105: C>G at -135 (FH Columbia-2)

References


104: C>T at -137 (FH Albuquerque)

References


103: del 3 at -183 (FH Pedi-2)

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172: C>T at -152

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374: G>T at -269

References


233: C>T at -218

References


438: T>C at -138

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247: C>A at -14

References


328: A>G at 1

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357: G>A at 11 (FH Nanjing-1)

References


356: A>C at 1

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2: G>A at 12 (FH Columbia-1)

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260: T>C at 28

References


421: G>A at 13 (FH Nanjing-1)

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1: del C at 7 (FH Dallas-1)

References


248: del G at 3

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307: T>A at 28 (FH Enna)

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445: A>T at 1

References


461: del 4 at 68-5

References


277: G>C at 68-1

References


626: G>A at 67+1

References


112: del e2-3, 5kb (FH French Canadian-5)

References


270: del e2-10, 22kb (FH Amsterdam)

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272: del e2-12, 24kb (FH Pavia)

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110: del e2-3, 10kb (FH Tonami-2)

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115: del e2-6, 9.5kb (FH Vancouver-5)

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604: del e2-6, 10kb

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426: del e2-5, 2kb (FH Aarhus-4)

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434: ins e2-14, 17kb (FH Valencia-2)

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616: ins e2-5, 14kb

References


113: del e2-3,5kb (FH Tsukuba-1)

References


114: ins e2-8, 14kb (FH St.Louis)

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116: del e2-6, 10kb (FH Vancouver-4)

References


111: del e2-3?4, 12kb (FH Kanazawa)

References


109: del e2-12, 24kb (FH Pavia)

References


308: C>T at 103 (FH Milan-3)

References


470: A>C at 161

References


283: G>T at 91

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462: T>G at 95

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495: G>A at 148

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358: ins A at 111

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449: G>C at 137

References


382: del A at 118

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383: G>A at 139 (FH Hyogo)

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683: del C at 165

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330: G>T at 146

References


252: del C at 97

References


301: del A at 83

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6: del G at 99 (FH Algeria-4)

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633: T>C at 166

References


10: del G at 172 (FH Pedi-1)

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9: G>A at 155 (FH Paris-4)

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7: G>A at 131 (FH Cincinnati-5)

References


677: del GA at 77

References


5: C>T at 97 (FH Turkey/Milan-4)

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4: T>G at 81 (FH San Francisco)

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8: del 6 at 137 (FH Capetown-1;)

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760: G>A at 191-1

References


761: G>A at 190+1

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202: A>G at 191-2

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424: del e3-8, 10kb (FH Amsterdam-2)

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601: del e3-15 (FH Palermo)

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435: ins e3-4, 3.8kb (FH Valencia-3)

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427: ins e3-8, 10kb (FH Alkmaar-1)

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431: ins e3-6, 8kb (FH Caltanissetta)

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663: del e2-3, 4.8kb

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118: del e3-8, 11kb (FH Vancouver-3)

References


119: del e3-6, 9kb (FH Aarhus-2)

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117: ins e3-5, 7kb (FH Paris-2)

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273: del e3-10, 12kb (FH Massa)

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304: G>A at 245

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487: G>T at 311

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634: ins 2 at 195

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442: C>T at 313

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388: C>T at 251

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389: del 4 at 308

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390: del G at 235

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14: C>T at 304 (FH Rapone)

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11: T>G at 259 (FH French Canadian-4)

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765: T>A at 283

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305: C>T at 241

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306: C>A at 285

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198: G>A at 261

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199: G>A at 268

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12: A>G at 269 (FH London-4)

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684: T>A at 223

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201: del G at 301

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226: del G at 211

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238: G>T at 268

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686: G>A at 224

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184: C>T at 253

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309: T>C at 265 (FH Catanzaro)

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175: G>T at 301 (FH Finn-1/ Imperia)

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162: C>G at 296 (FH Svartor)

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681: del G at 226

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454: T>G at 283

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251: C>T at 232

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766: T>C at 283

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368: del 2 at 312

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359: C>G at 267

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453: C>G at 274

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13: G>A at 301 (FH Lancashire)

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152: T>C at 313+2

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173: G>T at 313+1

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151: G>C at 313+1

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153: G>A at 314-1

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635: ins G at 313+1

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163: G>A at 313+1 (FH-Elverum/Olbia)

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401: ins e3-6, 7kb

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279: del e4-6, 5kb (FH Petersburg)

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120: del e4-6, 5kb (FH Vancouver-6)

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436: del e4-6, 4.2kb (FH Valencia-4)

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605: del e4-6, 5kb

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15: del 2 at 313+1 (FH Lille)

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484: ins A at 319

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492: C>A at 402

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311: G>T at 352 (FH Naples-3)

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646: G>A at 326

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630: T>A at 427

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517: del 2/ins 2 at 324

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457: C>T at 460

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329: T>C at 400

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16: T>C at 325 (FH Munster-1)

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17: G>T at 337 (FH Paris-5)

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18: del 4 at 382 (Dallas-2)

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19: G>T at 418 (Venezuela/Campobasso)

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20: G>A at 418 (FH Philippines)

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63: G>A at 337

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154: C>A at 429

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176: del 13 at 325 (FH Finn-2)

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284: ins 4 at 442

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310: G>T at 326

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413: G>A at 415 (FH Sassari-2)

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313: C>G at 402 (FH Lucca)

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200: G>A at 266

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416: C>A at 465

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337: del 12 at 408

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21: T>G at 463 (FH Germany)

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354: T>G at 444

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360: T>C at 346 (FH Alghero)

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366: G>A at 344 (FH Fukuoka)

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369: G>T at 347

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384: del A at 353

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397: C>T at 349

References


403: del 7 at 355

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404: C>T at 373 (FH Foggia-2)

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410: G>A at 379

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412: Ins C at 389

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312: G>T at 401 (FH Alessandria)

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691: del TC at 369

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719: ins 4 at 445

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698: del 21/ins A at 442

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697: G>C at 428

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767: C>T at 323

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696: ins G at 397

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720: G>A at 443

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692: C>T at 370 (FH Utah)

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695: G>A at 383

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690: T>A at 361

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689: del GCC at 347

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688: del 10 at 335

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653: A>T at 364

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624: G>C at 420

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622: G>A at 385

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694: T>C at 377

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693: ins 4 at 374

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361: C>G at 542

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428: del G at 518

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423: G>T at 502

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235: C>A at 519

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236: G>A at 551 (FH Rome-2)

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254: ins 8 at 533

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25: C>T at 530 (FH Puerto Rico)

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24: G>A at 523 (FH Afrikaner-3)

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22: G>C at 502 (FH Sephardic)

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23: T>C at 517 (FH Greece-1; F.Canad)

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420: T>C at 482

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187: G>A at 518 (FH Laeaquila)

References


204: G>A at 502

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398: del 23 at 568

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250: C>A at 501

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649: del G at 554

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467: T>C at 550

References


203: G>A at 479

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3: ins 19 at 483

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391: C>G at 519

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378: ins G at 558

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722: G>T at 532

References


331: ins G at 553

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355: T>G at 478

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704: C>A at 564

References


654: C>T at 571

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465: G>T at 527

References


699: del 7 at 483

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700: C>G at 501

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194: del 2 at 560

References


701: G>C at 514 (FH Swazi)

References


702: G>A at 532

References


703: C>T at 544

References


463: T>G at 523

References


599: G>C at 551

References


26: C>G at 564 (FH Druze)

References


167: G>A at 514

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557: del C at 510

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721: T>C at 478

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186: T>G at 517

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185: G>A at 500

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432: G>T at 523

References


464: del 12 at 523

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621: del 5 at 340

References


466: T>G at 534

References


269: dupl 18 at 678

References


34: A>G at 671 (FH Italy-2)

References


636: del 22 at 624 (FH Asti)

References


497: Ins 8 at 681

References


679: del C at 657

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256: del G at 652

References


676: T>G at 664

References


474: C>T at 593 (FH Latina)

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33: G>A at 670 (FH Portugal)

References


482: del G at 617

References


637: ins 11 at 680

References


36: C>G at 681 (FH Afrikaner-1/Maine)

References


490: G>A at 661

References


31: A>G at 662 (FH Padova-1)

References


600: A>C at 671

References


498: Ins 7 at 681

References


483: ins 11 at 615

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400: T>C at 589

References


35: T>C at 676 (FH Miami-1)

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205: del T at 646

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177: G>T at 661 (FH Finn-3)

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652: del 3 at 648

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405: T>G at 691

References


37: G>T at 682 (FH Morocco)

References


402: ins 18 at 678

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439: ins 7 at 681

References


38: G>C at 682 (FH Tulsa-2/Iraq)

References


399: del 7 at 582

References


493: del 3/ins 14 at 680

References


770: ins 12 at 680

References


29: G>A at 622 (FH Jerusalem)

References


711: C>T at 631 (FH Utah)

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298: G>A at 642

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258: del 5, ins 6

References


155: del 2 at 646

References


268: del 3 at 632

References


708: ins 11 at 683

References


253: A>T at 671

References


707: T>C at 664

References


239: ins 18 at 681 (FH Padua-4)

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27: G>T at 590 (FH Shreveport)

References


207: C>A at 693

References


206: del AC at 680

References


28: G>A at 590 (FH El-Salvador)

References


178: G>A at 665 (FH Finn-4/Genoa-2)

References


768: ins 5 at 662

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257: del 37 at 651

References


314: del 3/ins 6 at 682 (FH Chieti-3)

References


332: C>A at 666

References


651: del 3 at 651

References


39: G>A at 682 (F.Canadian-3/Modena)

References


627: T>C at 598

References


30: del 3 at 652 (FH Lithuania)

References


710: G>A at 692

References


32: ins 21at 681 (FH Tulsa-1)

References


705: del A at 616

References


723: G>C at 638

References


706: G>A at 656

References


501: C>T at 694+24

References


500: T>C at 694+2

References


499: G>A at 694+1

References


122: del e5, 0.7kb (FH London-2)

References


123: del e5, 1kb (FH Aarhus-3)

References


121: del e5, 0.8kb (FH Paris-1)

References


713: G>A at 772

References


712: C>T at 769

References


45: G>A at 809 (FH Miami-2)

References


293: T>C at 727

References


714: ins G at 785

References


44: T>A at 798 (FH Cincinnati-1)

References


40: G>A at 718 (FH Charlotte)

References


285: C>A at 731

References


407: G>A at 743

References


208: del G at 736

References


43: A>G at 767 (FH Nevers)

References


315: A>C at 761 (FH Reggio Emilia-2)

References


375: C>T at 757

References


41: C>T at 724 (FH Corsica)

References


42: G>T at 743 (FH Bretagne-1)

References


362: del 4 at 790

References


333: T>C at 765

References


278: del 87 at 704

References


502: C>G at 768 (FH Espoo-2)

References


674: T>C at 722

References


468: del 5 at 796

References


647: G>T at 782

References


489: G>T at 799

References


504: G>A at 806 (FH Rome-3)

References


469: G>A at 796

References


632: T>A at 708

References


631: G>T at 772

References


503: G>T at 796

References


673: G>A at 818-1

References


668: del e6-13,10.3-11.2k

References


249: A>G at 902 (FH Greece-3)

References


408: A>C at 902

References


409: C>G at 906

References


156: del G at 877

References


597: del 2 at 823 (FH Goteborg)

References


508: C>A at 855

References


195: G>A at 829

References


229: G>T at 910

References


227: del A at 931

References


209: del 2 at 931

References


507: C>G at 828

References


179: G>A at 915 (FH Finn-5)

References


505: A>T at 820

References


286: C>G at 939

References


316: G>T at 862 (FH Milan-2)

References


514: del AG at 935

References


510: del C at 896

References


509: G>A at 862

References


334: A>G at 880

References


513: C>G at 917

References


512: C>T at 907

References


511: G>T at 901

References


619: G>A at 827

References


349: del 2 at 933

References


363: ins 4 at 916

References


506: C>A at 828

References


49: C>T at 917 (FH Amsterdam)

References


639: del G at 940

References


51: C>A at 939 (FH Cyprus-1)

References


717: del AG at 882

References


471: del G at 938

References


210: G>A at 938

References


715: T>C at 826 (FH Ceva)

References


716: ins T at 875

References


48: C>G at 912 (FH Baltimore-1)

References


47: G>A at 910 (FH Denver-2)

References


50: del 7 at 925 (FH Karelia)

References


724: T>C at 845

References


638: C>A at 888 (FH Huddinge)

References


455: G>A at 905

References


230: A>G at 932

References


46: C>A at 858 (FH Greece-2)

References


515: G>A at 941-4

References


670: ins e7-18, >20kb

References


614: ins e7-12, 7kb

References


608: del e7-10, 6.3kb (FH Amsterdam-5)

References


607: del e7-8, 3kb

References


609: del e7-14, 13kb (FH Okayama)

References


617: ins e7-12, >5kb

References


606: del e7, 1kb

References


126: del e7-14, 10/11kb (FH London-7)

References


124: del e7-10, 7.5kb (FH Oulu-1)

References


130: del e7, 1kb (FH London-3)

References


129: ins e7-8, 4kb (FH London-8)

References


125: del e7-14, 12kb (FH Osaka-2)

References


443: del e7-8, 3.83kb

References


127: del e7-8, 4kb (FH Leuven-1(Leiden1))

References


128: del e7-8, 2.5kb (FH Cape Town-2)

References


518: T>C at 1012 (FH Gifu)

References


56: G>A at 1027 (FH Picardie-3)

References


317: T>C at 952 (FH Perugia-1)

References


215: C>T at 1048 (FH Fossum)

References


380: G>A at 986

References


450: T>G at 985 (FH Poland)

References


213: C>T at 1033

References


55: C>G at 1026 (FH New York-1)

References


336: T>G at 1012

References


53: G>A at 1003 (FH Paris-6)

References


685: C>G at 1022

References


447: del A at 1046 (Stop at 368)

References


241: C>G at 1056 (FH Avellino-1)

References


240: G>T at 953 (FH Trieste)

References


623: G>A at 967

References


280: T>A at 1012 (FH Wakayama)

References


54: C>A at 1008 (FH Bretagne-2)

References


620: G>A at 1013

References


188: del G at 970

References


212: G>A at 1024

References


718: A>G at 1007

References


640: G>A at 970

References


214: G>C at 1049 (FH Alghero)

References


516: del 24 at1008

References


641: del C at 1043

References


211: C>T at 979

References


350: C>A at 1056

References


335: G>T at 1004

References


52: G>A at 953 (FH Mexico-1)

References


520: ins 8 at 1060

References


521: G>A at 1061-1

References


338: G>C at 1061-8

References


496: G>C at 1061-1

References


478: C>G at 1061+10

References


302: T>C at 1061-8

References


603: ins e8-12, 4kb

References


671: ins e8-10,2.6-6kb

References


234: ins e8-10

References


650: T>C at 1054

References


339: A>G at 1000

References


60: G>A at 1069 (FH Paris-7)

References


642: A>C at 1151

References


525: G>T at 1091

References


628: C>G at 1176

References


667: ins 18 at 1069 (FH Chieti-2)

References


530: A>C at 1133

References


157: C>A at 1176

References


228: A>T at 1168

References


231: G>A at 1103

References


242: G>A at 1171

References


282: del 9/ins 6 at 1115

References


728: G>C at 1179

References


727: C>T at 1132

References


528: A>G at 1123

References


364: G>A at 1136

References


299: C>A at 1104

References


725: A>C at 1109 (FH Reggio Calabria)

References


524: G>C at 1078 (FH Kanagawa)

References


531: G>T at 1145

References


320: G>A at 1118 (FH Potenza-2)

References


529: G>A at 1130

References


64: T>C at 1135 (FH Napoli-1)

References


527: Ins 4 at 1122 (FH Pisa)

References


526: T>C at 1102

References


62: T>C at 1090 (FH Mexico-3/Palermo2)

References


61: C>T at 1075 (FH Brussels)

References


58: A>T at 1061 (FH Oklahoma)

References


523: G>T at 1078

References


57: G>A at 1055 (FH Mexico-2)

References


522: A>C at 1061

References


318: T>A /ins 18 at 1062 (FH Chieti-2)

References


319: del A at 1067 (FH Cuneo)

References


532: T>G at 1154

References


440: C>T at 1150

References


441: C>G at 1158

References


666: del 8 at 1056

References


411: A>G at 1097

References


485: del G at 1185

References


180: G>A at 1186 (FH Finn-6)

References


672: del 4 at 1116

References


618: del 1 at 1172

References


385: ins 4 at 1121 (FH Nashville)

References


473: del A at 1085

References


472: A>G at 1069

References


59: A>G at 1061 (FH Munster-2)

References


287: del A at 1187-2

References


762: G>A at 1187-1

References


131: del e9-10, 2kb (FH Reykjavik)

References


132: ins e9-12, 4.4kb (FH Leuven-3(Leiden3))

References


444: del e9-12, 5.71kb

References


598: G>T at 1285

References


543: G>C at 1329

References


477: C>A at 1341

References


321: A>G at 1244 (FH Padua-3)

References


164: del C at 1335 (FH Odense)

References


655: T>C at 1277

References


261: G>C at 1297

References


181: T>A at 1202 (FH Pori)

References


288: C>G at 1301 (FH Sassari-4)

References


731: T>C at 1352

References


730: C>T at 1342

References


537: C>G at 1215

References


729: G>T at 1252 (FH St Petersburg)

References


536: T>C at 1207 (FH Wakayama)

References


66: G>A at 1285 (FH Afrikaner-2)

References


217: C>A at 1196

References


244: ins 5 at 1246

References


758: del 2 at 1204

References


534: G>A at 1195

References


294: A>C at 1210

References


533: G>T at 1195

References


488: del G at 1233

References


539: C>G at 1257

References


538: G>C at 1243

References


535: C>G at 1201

References


372: T>G at 1241

References


340: T>C at 1307

References


541: C>G at 1294

References


182: C>A at 1335 (FH Finn-8)

References


71: G>C at 1329 (FH North Platt)

References


70: C>G at 1323 (FH Roen)

References


377: G>A at 1217

References


68: C>A at 1301 (FH Algeria-3)

References


540: C>G at 1284

References


67: G>A at 1291 (FH Algeria-2)

References


65: G>A at 1222 (FH Algeria-1/Osaka)

References


451: C>T at 1216 (FH Rumania)

References


196: T>C at 1268

References


475: G>T at 1297

References


216: C>T at 1246

References


69: T>A at 1322 (FH Russia-1)

References


379: G>A at 1247

References


680: ins 96 at 1272

References


542: del G at 1302

References


544: T>A at 1358+2

References


446: d 9/ins 5 at 1359-23

References


341: G>A at 1358+1

References


158: G>A at 1359-1

References


429: ins e9-14, 10kb (FH Salerno)

References


425: ins e10-12, 5kb (FH Amsterdam-3)

References


732: del C at 1392

References


237: G>A at 1444

References


295: T>A at 1448

References


545: del 2 at 1374 (FH Ancona)

References


735: T>C at 1495

References


739: A>T at 1574

References


327: ins 4 at 1419 (FH Savona/Parma)

References


546: A>G at 1415

References


165: del 3 at 1459

References


381: A>G at 1552

References


220: T>C at 1447

References


74: G>A at 1470 (FH Cincinnati-2)

References


734: T>A at 1451

References


476: A>G at 1525

References


72: G>A at 1432 (FH New York-2/Finn-9)

References


387: T>C at 1436

References


386: ins 4 at 1374

References


219: G>C at 1444

References


678: del A at 1456

References


548: G>A at 1474

References


323: T>A at 1463 (FH Piacenza)

References


322: del 11 at 1439 (FH-Reggio Emilia)

References


395: G>C at 1474

References


736: del G at 1530

References


218: ins 4 at 1368

References


643: T>C at 1549

References


551: del 2 at 1546

References


448: del 9 at 1567 (FH Iraq)

References


73: A>G at 1454 (FH Milan-1)

References


549: del 3, in 7 at 1493

References


733: ins 4 at 1415

References


264: G>A at 1448

References


76: C>T at 1576 (FH Cincinnati-3)

References


415: C>G at 1467

References


547: Ins C at 1428

References


189: del 2 at 1478 (Frosinone-2/Yrmeih)

References


75: G>A at 1567 (FH Kuwait/Bari-2)

References


550: T>C at 1532 (FH Rome-4)

References


197: G>A at 1586+5

References


324: G>A at 1586+1 (FH Agrigento)

References


133: del e11-16, 13kb (FH Oulu-2)

References


262: del e11-14, 10kb

References


611: ins e11, 7kb (FH Leiden-4)

References


274: del e11-12, 4kb (FH Genoa-1)

References


79: G>A at 1646 (FH Palermo-1)

References


555: ins C at 1689

References


77: del G at 1607 (FH Pittsburgh)

References


78: G>A at 1637 (FH Saint Omer)

References


80: G>T at 1694 (FH Naples-2)

References


159: ins C at 1645

References


160: G>T at 1603

References


171: del G at 1650

References


552: G>A at 1599

References


556: A>G at 1691

References


737: del 36 at 1591

References


554: ins 8 at 1669

References


553: del13/ins17 at 1640

References


232: G>T at 1646

References


740: del TG at 1671

References


243: G>A at 1618

References


245: del T at 1655

References


738: del 9 at 1600

References


558: C>G at 1702

References


168: A>C at 1690

References


394: G>C at 1694

References


342: C>A at 1688

References


417: G>A at 1686 (FH-Skjetten)

References


266: T>C at 1664

References


271: C>T at 1681

References


365: del 7/ins 2 at 1698

References


459: G>A at 1706-10

References


166: G>T at 1705+1

References


656: G>T at 1706-1

References


303: G>A at 1705+1

References


562: del 7 at 1782

References


568: C>G at 1823

References


569: del 2 at 1840

References


566: G>T at 1816

References


565: G>A at 1816

References


746: T>C at 1814

References


479: G>A at 1715

References


480: A>C at 1794

References


263: C>T at 1747

References


563: G>A at 1784

References


393: C>T at 1823

References


657: del C at 1779

References


190: del 7 at 1783

References


561: G>T at 1735 (FH Casale Monferrato)

References


325: C>A at 1790

References


560: C>T at 1723

References


559: C>T at 1720

References


564: T>A at 1793

References


81: G>A at 1731 (FH Moscow)

References


169: G>C at 1730

References


494: del 5/ins A at 1715

References


741: del 4 at 1716

References


745: ins A at 1802

References


373: C>T at 1763

References


662: C>T at 1822

References


743: del C at 1751

References


726: G>T at 1833

References


567: C>A at 1822

References


742: del C at 1737

References


664: ins G at 1778

References


486: del G at 1778 (FH Sassari-1)

References


85: T>C at 1796 (FH London-5)

References


296: C>T at 1828

References


84: G>A at 1775 (Sicily/Foggi/Naples4)

References


300: A>T at 1786

References


83: ins GTC at 1734 (FH Paris-8)

References


418: del 2 at 1745

References


82: G>A at 1735 (FH Cincinnati-4)

References


763: G>C at 1845+1

References


87: T>C at 1845+2 (FH Niigata)

References


764: G>A at 1845+1 (FH Tunis)

References


174: G>A at 1846-1 (FH Avellino-2/ Tunis)

References


135: del e13-14, 4.5kb (FH Vancouver-1)

References


137: ins e13-15, 7kb (FH Bologna-2)

References


136: del e13-14, 3.7kb (FH Italy-1/FH Chieti)

References


771: del e13-14, 2kb

References


610: del e13-14, 4kb (FH Amsterdam-4)

References


134: del e13-14, 4kb (FH London-1)

References


430: del e13-18, >25kb (FH Catania)

References


275: del e13-14, 4.7kb (FH Roma)

References


612: del e13-15, 5kb (FH Palermo-3)

References


138: del e13-15, 4.5kb (FH Potenza)

References


221: C>T at 1897

References


419: T>C at 1963

References


224: complex

References


750: ins 5 at 1951

References


747: T>G at 1856

References


751: T>G at 1958

References


291: C>T at 1982

References


223: ins C at 1943

References


570: T>C at 1855

References


571: T>C at 1858

References


572: A>C at 1874

References


573: A>G at 1954

References


574: del G at 1987

References


222: C>T at 1946

References


625: T>A at 1916

References


748: ins A at 1934

References


290: C>T at 1978

References


749: G>T at 1951

References


267: G>A at 1879

References


371: A>C at 1975

References


665: del T at 1963

References


289: G>T at 1864

References


744: T>C at 1856

References


658: C>T at 1880

References


370: G>A at 1907

References


613: del e14-15, 5kb

References


586: G>A at 2140

References


580: ins T at 2035

References


579: G>A at 2023

References


456: C>G at 2100

References


583: del T at 2060

References


367: G>A at 1988

References


577: T>G at 2001

References


458: del 19 at 2085

References


88: G>A at 2000 (FH French Canadian-2)

References


754: G>A at 2050

References


582: C>T at 2053

References


95: del T at 2092 (FH New York-4)

References


93: T>C at 2045 (FH Issoire)

References


92: C>A at 2043 (FH Lebanese)

References


91: C>T at 2032 (FH El Salvador-2)

References


90: T>C at 2029 (FH New York-3)

References


343: del 12 at 2032

References


576: T>C at 1999

References


89: del C at 2012 (FH Nanjing-2,)

References


352: C>T at 2056

References


351: del 4 at 2046

References


581: T>A at 2041

References


192: C>T at 2096

References


392: G>T at 2000

References


753: del 13 at 2030

References


578: ins G at 2023

References


191: G>A at 2042

References


675: ins 7 at 2114

References


645: del T at 2015

References


644: del 14 at 2050

References


659: G>T at 2030

References


682: del C at 2068

References


756: G>T at 1993

References


752: G>T at 1997

References


584: C>G at 2087 (FH Caserta)

References


575: G>A at 1998

References


193: T>A at 2001

References


585: G>A at 2093

References


481: del 13 at 2056

References


755: G>A at 2087

References


94: C>T at 2054 (FHGujerat/Frosinone1)

References


86: G>T at 2140+1

References


344: G>A at 2140+5

References


660: G>C at 2140+1

References


452: T>A at 2140+2

References


669: ins e14-17,12.3-15.2

References


139: del e15, 6kb (FH Tonami-1)

References


140: del e15, 6kb (FH Espoo)

References


141: del e15-18,10.5kb (FH London-9)

References


589: C>T at 2308 (FH Mondovi)

References


588: G>A at 2231

References


96: C>T at 2177 (FH Paris-9)

References


587: C>T at 2221

References


687: ins T at 2207

References


97: del A at 2292 (FH Tyrone)

References


661: del 2 at 2199

References


769: del G at 2167

References


757: G>T at 2167

References


326: G>A at 2311+1 (FH Benevento)

References


276: del e16, 2kb (FH Padua-2)

References


142: ins e16-17, 5.5kb (FH Viterbo)

References


143: del e16-17, 4kb (FH Tsukuba-2)

References


147: del e16, 0.4kb (FH Leuven-2(Leiden2))

References


146: del e16-18, 5.5kb (FH Rochester)

References


145: del e16-18, 7.8kb (FH Osaka-1)

References


615: del e16-17, 2kb

References


144: del e16-18, 9.5kb (FH Helsinki)

References


592: A>T at 2357

References


591: del 21 at 2320

References


98: A>T at 2374 (FH Russia-2)

References


259: G>A at 2389

References


345: del 5 at 2343

References


346: G>T at 2389

References


396: G>A at 2389+1 (FH Monfalcone)

References


347: G>T at 2389+1

References


460: G>A at 2390-1

References


590: A>C at 2390-2

References


161: A>G at 2390-2

References


149: del e17, 2kb (FH Aarhus-1)

References


150: del e17-18, >10kb (FH Baltimore-2)

References


148: del e17, 0.4 kb (FH Vancouver-3)

References


297: C>G at 2475

References


183: G>A at 2531 (FH Finn-10/Turku)

References


102: A>G at 2483 (FH J.D-Bari/Potenza)

References


593: del 9 at 2458

References


101: G>A at 2479 (FH New York-5)

References


491: del G at 2417

References


99: G>A at 2439 (FH Bahrain)

References


594: C>A at 2475

References


648: ins G at 2417

References


376: G>A at 2441

References


281: A>T at 2431 (FH Tokyo)

References


265: del C at 2475

References


629: T>A at 2417

References


225: del 9 at 2395

References


759: ins G at 2416

References


170: ins 18 at 2424

References


100: ins 4 at 2450 (FH Paris-3)

References


348: ins 18 at 2406

References


595: A>G at 2548-2

References


596: A>G at 2548

References


353: del A at 2552

References


255: complex, >5kb (FH Portugal)

References


414: del e3-5/ins e8-17

References


519: del G at 2316

References


406: del prom -e6, 24kb (FH Bari-3)

References