NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs)
|
rs1553686994 |
NM_001271208.2(NEB):c.10560+1G>A
|
rs1553915731 |
NM_001271208.2(NEB):c.11076+1G>A
|
rs1460365350 |
NM_001271208.2(NEB):c.11181+2T>C
|
rs1553904694 |
NM_001271208.2(NEB):c.11289+1G>C
|
rs1553901249 |
NM_001271208.2(NEB):c.1153-2A>G
|
rs1553609515 |
NM_001271208.2(NEB):c.11602-2A>C
|
rs1553891733 |
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219 |
NM_001271208.2(NEB):c.11909_11910+4del
|
rs1553886582 |
NM_001271208.2(NEB):c.11910+1G>A
|
rs774495973 |
NM_001271208.2(NEB):c.1258-2A>G
|
rs1553608621 |
NM_001271208.2(NEB):c.1365+2T>C
|
rs770797137 |
NM_001271208.2(NEB):c.1366-2A>G
|
rs1553607505 |
NM_001271208.2(NEB):c.1470+1G>A
|
rs1220787593 |
NM_001271208.2(NEB):c.1569+1G>A
|
rs1553605553 |
NM_001271208.2(NEB):c.1570-2A>G
|
rs1553603958 |
NM_001271208.2(NEB):c.1570-2_1574del
|
rs1553603933 |
NM_001271208.2(NEB):c.1672_1674+2del
|
rs1057516739 |
NM_001271208.2(NEB):c.1674+1G>T
|
rs750585238 |
NM_001271208.2(NEB):c.1674+2T>C
|
rs1553603437 |
NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)
|
rs1553601066 |
NM_001271208.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178 |
NM_001271208.2(NEB):c.18471+1G>C
|
rs1553769576 |
NM_001271208.2(NEB):c.18694-2del
|
rs1553763404 |
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851 |
NM_001271208.2(NEB):c.18891+1G>A
|
rs1443738549 |
NM_001271208.2(NEB):c.1897-1G>A
|
rs1553593177 |
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter)
|
rs761964375 |
NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs)
|
rs1553757097 |
NM_001271208.2(NEB):c.19207-1G>A
|
rs1553755829 |
NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233 |
NM_001271208.2(NEB):c.19836+1G>T
|
rs1446930968 |
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266 |
NM_001271208.2(NEB):c.20157+2T>C
|
rs1553717306 |
NM_001271208.2(NEB):c.20158-1G>C
|
rs1553715579 |
NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs)
|
rs1553710982 |
NM_001271208.2(NEB):c.20467-1G>T
|
rs760082702 |
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter)
|
rs1242775893 |
NM_001271208.2(NEB):c.20577+2T>C
|
rs1185654671 |
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641 |
NM_001271208.2(NEB):c.20787+2T>C
|
rs1337287633 |
NM_001271208.2(NEB):c.20788-1G>A
|
rs1553695557 |
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter)
|
rs1553694860 |
NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs)
|
rs1553688242 |
NM_001271208.2(NEB):c.21312+1G>A
|
rs1553682994 |
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273 |
NM_001271208.2(NEB):c.21358del (p.Leu7120fs)
|
rs1553678967 |
NM_001271208.2(NEB):c.21735+1G>A
|
rs1446706909 |
NM_001271208.2(NEB):c.21841-13_21848del
|
rs767772838 |
NM_001271208.2(NEB):c.21841-2A>G
|
rs1389892619 |
NM_001271208.2(NEB):c.2211+1G>A
|
rs1553586486 |
NM_001271208.2(NEB):c.2212-2A>G
|
rs1553580540 |
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter)
|
rs1553646540 |
NM_001271208.2(NEB):c.22243del (p.Glu7415fs)
|
rs1235589246 |
NM_001271208.2(NEB):c.22267-5_22267-2del
|
rs1553644243 |
NM_001271208.2(NEB):c.22378-1G>A
|
rs1553642332 |
NM_001271208.2(NEB):c.22584+1del
|
rs1488066635 |
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter)
|
rs760935667 |
NM_001271208.2(NEB):c.22695+2T>C
|
rs200449517 |
NM_001271208.2(NEB):c.22696-1G>C
|
rs757157808 |
NM_001271208.2(NEB):c.22801-1G>A
|
rs745511810 |
NM_001271208.2(NEB):c.22905+1G>A
|
rs1302373559 |
NM_001271208.2(NEB):c.22905+2T>G
|
rs1553627466 |
NM_001271208.2(NEB):c.23010+2T>C
|
rs1553623367 |
NM_001271208.2(NEB):c.2310+2T>A
|
rs1553579092 |
NM_001271208.2(NEB):c.23346+2T>A
|
rs1553615846 |
NM_001271208.2(NEB):c.23483del (p.Met7828fs)
|
rs1553603690 |
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs)
|
rs1553603438 |
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs)
|
rs1553603400 |
NM_001271208.2(NEB):c.23556+1G>C
|
rs1011425121 |
NM_001271208.2(NEB):c.23556+1G>T
|
rs1011425121 |
NM_001271208.2(NEB):c.2385del (p.Gln795fs)
|
rs1553568167 |
NM_001271208.2(NEB):c.2389_2390AG[1] (p.Arg797fs)
|
rs1057516938 |
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter)
|
rs755970391 |
NM_001271208.2(NEB):c.23940+1G>A
|
rs781120931 |
NM_001271208.2(NEB):c.24127-1G>A
|
rs1553561697 |
NM_001271208.2(NEB):c.24127-1G>C
|
rs1553561697 |
NM_001271208.2(NEB):c.24127-1_24134del
|
rs1423137705 |
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs)
|
rs1553561665 |
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs)
|
rs772009599 |
NM_001271208.2(NEB):c.24144del (p.Asn8048fs)
|
rs1553561525 |
NM_001271208.2(NEB):c.2415+2T>C
|
rs1057517399 |
NM_001271208.2(NEB):c.2416-1G>C
|
rs1553565278 |
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs)
|
rs1553561211 |
NM_001271208.2(NEB):c.24219+1G>A
|
rs755239192 |
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs)
|
rs1553556275 |
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs)
|
rs1266535163 |
NM_001271208.2(NEB):c.24312+2T>C
|
rs1553555768 |
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs)
|
rs1553552413 |
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs)
|
rs781667543 |
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs)
|
rs1553552384 |
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter)
|
rs756726488 |
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter)
|
rs1218073575 |
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs)
|
rs1553551748 |
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs)
|
rs1553551650 |
NM_001271208.2(NEB):c.24405+1G>A
|
rs1366853918 |
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs)
|
rs1553548771 |
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter)
|
rs1553548752 |
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter)
|
rs1332061304 |
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs)
|
rs1257495033 |
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs)
|
rs752582527 |
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs)
|
rs1553548207 |
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs)
|
rs1553548018 |
NM_001271208.2(NEB):c.24498+1G>A
|
rs775631800 |
NM_001271208.2(NEB):c.24499-1G>A
|
rs1421095081 |
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs)
|
rs1553537512 |
NM_001271208.2(NEB):c.24685-2A>G
|
rs113290650 |
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)
|
rs754272530 |
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter)
|
rs1553536267 |
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs)
|
rs1357811155 |
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer)
|
rs794727136 |
NM_001271208.2(NEB):c.24771del (p.Phe8257fs)
|
rs794727136 |
NM_001271208.2(NEB):c.24778-2A>C
|
rs112687345 |
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs)
|
rs776059611 |
NM_001271208.2(NEB):c.24871-9_24872del
|
rs1553530144 |
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter)
|
rs1553526619 |
NM_001271208.2(NEB):c.25162+1G>A
|
rs1191429915 |
NM_001271208.2(NEB):c.25162+1G>C
|
rs1191429915 |
NM_001271208.2(NEB):c.25163-2A>C
|
rs866309952 |
NM_001271208.2(NEB):c.25256-1G>T
|
rs1553520609 |
NM_001271208.2(NEB):c.25402+1G>A
|
rs113525641 |
NM_001271208.2(NEB):c.25402+2del
|
rs1553519860 |
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter)
|
rs200731870 |
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter)
|
rs1553519124 |
NM_001271208.2(NEB):c.25509+1_25509+2insATGGA
|
rs1357452519 |
NM_001271208.2(NEB):c.25509+2T>A
|
rs1553518813 |
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398 |
NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer)
|
rs1553557405 |
NM_001271208.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430 |
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666 |
NM_001271208.2(NEB):c.294+2T>C
|
rs773952935 |
NM_001271208.2(NEB):c.2944-1G>A
|
rs1553542669 |
NM_001271208.2(NEB):c.295-1G>T
|
rs111300270 |
NM_001271208.2(NEB):c.3147+1del
|
rs1553539777 |
NM_001271208.2(NEB):c.3255+1G>C
|
rs375628303 |
NM_001271208.2(NEB):c.3255+1del
|
rs1553538835 |
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073 |
NM_001271208.2(NEB):c.3567+1G>C
|
rs587780399 |
NM_001271208.2(NEB):c.37-1G>A
|
rs1428597732 |
NM_001271208.2(NEB):c.37-1G>C
|
rs1428597732 |
NM_001271208.2(NEB):c.3774+2T>C
|
rs1553531049 |
NM_001271208.2(NEB):c.3879+1G>A
|
rs746999970 |
NM_001271208.2(NEB):c.3880-1G>T
|
rs1057516381 |
NM_001271208.2(NEB):c.3880-2A>G
|
rs1342507012 |
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576 |
NM_001271208.2(NEB):c.3988-1G>A
|
rs1553517128 |
NM_001271208.2(NEB):c.403-6_405del
|
rs1553689774 |
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360 |
NM_001271208.2(NEB):c.4300-2A>C
|
rs1553512813 |
NM_001271208.2(NEB):c.4506+1G>A
|
rs112517981 |
NM_001271208.2(NEB):c.4719+2T>C
|
rs1553501889 |
NM_001271208.2(NEB):c.5031+1G>A
|
rs1553495140 |
NM_001271208.2(NEB):c.507+1G>A
|
rs1553689057 |
NM_001271208.2(NEB):c.5344-1G>A
|
rs1197561990 |
NM_001271208.2(NEB):c.5344-1G>C
|
rs1197561990 |
NM_001271208.2(NEB):c.5451+2_5451+11del
|
rs1553487838 |
NM_001271208.2(NEB):c.5452-2A>G
|
rs1057517317 |
NM_001271208.2(NEB):c.6075+1G>A
|
rs1553472127 |
NM_001271208.2(NEB):c.6076-1G>T
|
rs1553469502 |
NM_001271208.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758 |
NM_001271208.2(NEB):c.613-1G>C
|
rs767693366 |
NM_001271208.2(NEB):c.613-2A>G
|
rs752893483 |
NM_001271208.2(NEB):c.6183+1G>A
|
rs557870969 |
NM_001271208.2(NEB):c.6183+1del
|
rs1553468960 |
NM_001271208.2(NEB):c.6183+2T>A
|
rs1553468939 |
NM_001271208.2(NEB):c.6808-2A>T
|
rs1553457607 |
NM_001271208.2(NEB):c.6811_6812CT[1] (p.Leu2271_Tyr2272insTer)
|
rs1180339426 |
NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951 |
NM_001271208.2(NEB):c.7227+2T>C
|
rs1553448527 |
NM_001271208.2(NEB):c.7228-1G>A
|
rs1057516996 |
NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)
|
rs1057516348 |
NM_001271208.2(NEB):c.7432-2A>G
|
rs1553990438 |
NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309 |
NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)
|
rs1553983416 |
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172 |
NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676 |
NM_001271208.2(NEB):c.823-2A>G
|
rs1553642811 |
NM_001271208.2(NEB):c.8374-1G>A
|
rs1180407562 |
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs)
|
rs765403861 |
NM_001271208.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158 |
NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter)
|
rs1553963973 |
NM_001271208.2(NEB):c.8889+1G>A
|
rs1553963960 |
NM_001271208.2(NEB):c.8994+2T>C
|
rs1553962493 |
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977 |
NM_001271208.2(NEB):c.9102+1G>A
|
rs143644938 |
NM_001271208.2(NEB):c.9108del (p.Lys3036fs)
|
rs1553948395 |
NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter)
|
rs1553947423 |
NM_001271208.2(NEB):c.927+1G>A
|
rs374562457 |
NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter)
|
rs193042896 |
NM_001271208.2(NEB):c.9414+1G>A
|
rs1255445731 |
NM_001271208.2(NEB):c.9414+1G>T
|
rs1255445731 |
NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806 |
NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter)
|
rs1553939774 |
NM_001271208.2(NEB):c.9457dup (p.Trp3153fs)
|
rs1553939660 |
NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter)
|
rs1553939648 |
NM_001271208.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600 |
NM_001271208.2(NEB):c.9485del (p.Val3162fs)
|
rs1553939284 |
NM_001271208.2(NEB):c.9576del (p.Glu3193fs)
|
rs1553938571 |
NM_001271208.2(NEB):c.9619-1G>A
|
rs1390379576 |
NM_001271208.2(NEB):c.9724-1G>A
|
rs1553934586 |
NM_001271208.2(NEB):c.9724-2A>G
|
rs1553934597 |
NM_001271208.2(NEB):c.9831+1G>A
|
rs1553933986 |
NM_001271208.2(NEB):c.9943del (p.Asp3315fs)
|
rs1553930053 |