ClinVar Miner

List of variants studied for Jeune thoracic dystrophy; Nephronophthisis

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ClinVar version:
Total variants: 961
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_024753.5(TTC21B):c.2462-19A>C rs146509360 0.00946
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_024753.5(TTC21B):c.2950+16T>C rs142565795 0.00455
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) rs149454830 0.00267
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) rs146637219 0.00124
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) rs144458105 0.00111
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_024753.5(TTC21B):c.895-8C>T rs1354698515 0.00070
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His) rs139537546 0.00063
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.553-5A>C rs544620018 0.00051
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr) rs140824612 0.00029
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) rs148866170 0.00025
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00024
NM_024753.5(TTC21B):c.429+6T>C rs377395392 0.00024
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 0.00014
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 0.00013
NM_024753.5(TTC21B):c.1725A>G (p.Lys575=) rs771273516 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.1116G>A (p.Gly372=) rs771405314 0.00011
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His) rs187985767 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.1923A>G (p.Gln641=) rs150622892 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024753.5(TTC21B):c.1046C>A (p.Thr349Asn) rs753999114 0.00008
NM_024753.5(TTC21B):c.2010T>A (p.Ile670=) rs757679360 0.00008
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.3495G>A (p.Thr1165=) rs147524050 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.1047C>T (p.Thr349=) rs778117964 0.00006
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.179T>A (p.Phe60Tyr) rs371571631 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2007T>C (p.Asp669=) rs138449110 0.00006
NM_024753.5(TTC21B):c.2054C>T (p.Pro685Leu) rs200930612 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro) rs150783918 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2305A>T (p.Thr769Ser) rs373564710 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.3345T>C (p.Thr1115=) rs376866058 0.00006
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) rs145726127 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) rs370860586 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_024753.5(TTC21B):c.1427G>A (p.Arg476His) rs767963660 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.22-6A>C rs377459815 0.00005
NM_024753.5(TTC21B):c.2224A>G (p.Ile742Val) rs147222434 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.250A>G (p.Ser84Gly) rs763267081 0.00005
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=) rs144151561 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 0.00004
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His) rs780307963 0.00004
NM_024753.5(TTC21B):c.1854G>A (p.Ser618=) rs529997599 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.1964G>A (p.Arg655Gln) rs748141161 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.2138+15T>C rs751850855 0.00004
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.263-15A>G rs534360293 0.00004
NM_024753.5(TTC21B):c.263-4C>A rs763567542 0.00004
NM_024753.5(TTC21B):c.2757+20T>C rs373826896 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 0.00004
NM_024753.5(TTC21B):c.3222T>G (p.Thr1074=) rs547771085 0.00004
NM_024753.5(TTC21B):c.3477G>A (p.Ala1159=) rs545954417 0.00004
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val) rs376308209 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.367C>T (p.Arg123Cys) rs775370323 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.3798G>A (p.Pro1266=) rs767458935 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.3873+20T>C rs749543618 0.00004
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys) rs200374808 0.00004
NM_024753.5(TTC21B):c.616G>A (p.Val206Met) rs370956667 0.00004
NM_024753.5(TTC21B):c.66A>G (p.Val22=) rs778014644 0.00004
NM_024753.5(TTC21B):c.710+19A>G rs779005204 0.00004
NM_024753.5(TTC21B):c.796-3T>C rs794727932 0.00004
NM_024753.5(TTC21B):c.895-16T>C rs774308869 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786 0.00003
NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) rs373845234 0.00003
NM_024753.5(TTC21B):c.1488C>T (p.Phe496=) rs777125970 0.00003
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser) rs371583620 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2721T>C (p.Tyr907=) rs369005097 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2853C>T (p.Asn951=) rs139246984 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.2971C>T (p.Arg991Cys) rs367876567 0.00003
NM_024753.5(TTC21B):c.308G>A (p.Arg103His) rs774327753 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3357C>T (p.His1119=) rs772142302 0.00003
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn) rs554851165 0.00003
NM_024753.5(TTC21B):c.3806-3C>T rs764138635 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.430-6T>G rs554154931 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.1455A>G (p.Val485=) rs1179957656 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1516+6G>A rs374229097 0.00002
NM_024753.5(TTC21B):c.152G>A (p.Gly51Asp) rs768073526 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.1747A>G (p.Ile583Val) rs745801155 0.00002
NM_024753.5(TTC21B):c.1757T>C (p.Leu586Pro) rs757261493 0.00002
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg) rs372066887 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.1853C>T (p.Ser618Leu) rs749287796 0.00002
NM_024753.5(TTC21B):c.2170T>A (p.Ser724Thr) rs759317777 0.00002
NM_024753.5(TTC21B):c.2365A>G (p.Asn789Asp) rs774676050 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2495G>A (p.Arg832His) rs145412117 0.00002
NM_024753.5(TTC21B):c.2523T>C (p.Tyr841=) rs375125407 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.3039G>A (p.Glu1013=) rs145213653 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.3102-4C>G rs750756355 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.3406A>G (p.Lys1136Glu) rs371863532 0.00002
NM_024753.5(TTC21B):c.345C>T (p.Gly115=) rs370444063 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3493A>G (p.Thr1165Ala) rs762419505 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.523G>A (p.Gly175Arg) rs771788049 0.00002
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg) rs938051900 0.00002
NM_024753.5(TTC21B):c.711G>T (p.Arg237Ser) rs764523560 0.00002
NM_024753.5(TTC21B):c.764A>G (p.Tyr255Cys) rs377061787 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_024753.5(TTC21B):c.9G>C (p.Ser3=) rs1186801288 0.00002
NM_024753.5(TTC21B):c.1014A>G (p.Gly338=) rs1213663988 0.00001
NM_024753.5(TTC21B):c.1022A>C (p.Lys341Thr) rs1686837269 0.00001
NM_024753.5(TTC21B):c.105T>G (p.Ser35Arg) rs750039189 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1087+9A>G rs377071324 0.00001
NM_024753.5(TTC21B):c.1088-3T>C rs761658519 0.00001
NM_024753.5(TTC21B):c.1089A>G (p.Gly363=) rs760376956 0.00001
NM_024753.5(TTC21B):c.1122A>G (p.Leu374=) rs1686814599 0.00001
NM_024753.5(TTC21B):c.117C>G (p.Phe39Leu) rs1559078793 0.00001
NM_024753.5(TTC21B):c.1186-10T>G rs1352577616 0.00001
NM_024753.5(TTC21B):c.1259A>G (p.Asn420Ser) rs1267990831 0.00001
NM_024753.5(TTC21B):c.1277A>G (p.His426Arg) rs981361200 0.00001
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val) rs772177785 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.1406C>G (p.Pro469Arg) rs370444625 0.00001
NM_024753.5(TTC21B):c.1428T>C (p.Arg476=) rs376312170 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1441C>T (p.Leu481=) rs773128226 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1516+20del rs1559062651 0.00001
NM_024753.5(TTC21B):c.1542C>T (p.Asn514=) rs1422092714 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.1548G>A (p.Gln516=) rs757424964 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys) rs777801181 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1687C>G (p.Pro563Ala) rs757173737 0.00001
NM_024753.5(TTC21B):c.169C>T (p.Leu57Phe) rs139392369 0.00001
NM_024753.5(TTC21B):c.1710T>G (p.Ala570=) rs766982980 0.00001
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr) rs143612688 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.1882C>T (p.Arg628Cys) rs367855384 0.00001
NM_024753.5(TTC21B):c.1900-20T>A rs1216094746 0.00001
NM_024753.5(TTC21B):c.1A>G (p.Met1Val) rs1435376086 0.00001
NM_024753.5(TTC21B):c.2046C>T (p.Ala682=) rs766532748 0.00001
NM_024753.5(TTC21B):c.2121A>G (p.Leu707=) rs778283781 0.00001
NM_024753.5(TTC21B):c.2123A>G (p.Tyr708Cys) rs756694027 0.00001
NM_024753.5(TTC21B):c.2138G>T (p.Arg713Ile) rs781708463 0.00001
NM_024753.5(TTC21B):c.2139-13G>A rs1686040312 0.00001
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp) rs201500142 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.226G>T (p.Ala76Ser) rs1272269691 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2344G>C (p.Ala782Pro) rs752254910 0.00001
NM_024753.5(TTC21B):c.2360A>G (p.Gln787Arg) rs760057103 0.00001
NM_024753.5(TTC21B):c.2416G>C (p.Asp806His) rs1685925440 0.00001
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg) rs965238984 0.00001
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr) rs767841175 0.00001
NM_024753.5(TTC21B):c.2494C>T (p.Arg832Cys) rs1439121645 0.00001
NM_024753.5(TTC21B):c.2540T>C (p.Leu847Pro) rs750709791 0.00001
NM_024753.5(TTC21B):c.2569-6T>C rs761010837 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2599C>T (p.Arg867Cys) rs746700857 0.00001
NM_024753.5(TTC21B):c.2636A>C (p.Gln879Pro) rs375464714 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2699A>G (p.Tyr900Cys) rs766007738 0.00001
NM_024753.5(TTC21B):c.2726A>T (p.Glu909Val) rs1433947584 0.00001
NM_024753.5(TTC21B):c.2734G>C (p.Val912Leu) rs756613993 0.00001
NM_024753.5(TTC21B):c.2754T>C (p.Asn918=) rs139668120 0.00001
NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His) rs1685493736 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2816G>A (p.Arg939Gln) rs751382210 0.00001
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) rs1489728717 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2868+18C>G rs189515413 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.2961G>A (p.Met987Ile) rs778812999 0.00001
NM_024753.5(TTC21B):c.2967A>G (p.Leu989=) rs749030495 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr) rs769459956 0.00001
NM_024753.5(TTC21B):c.3044G>A (p.Arg1015His) rs1235756793 0.00001
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg) rs748245713 0.00001
NM_024753.5(TTC21B):c.3084T>C (p.Cys1028=) rs750764688 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.3114A>G (p.Glu1038=) rs1436732135 0.00001
NM_024753.5(TTC21B):c.3135T>C (p.His1045=) rs370063297 0.00001
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=) rs762837601 0.00001
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His) rs768306526 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp) rs1403922219 0.00001
NM_024753.5(TTC21B):c.3273T>G (p.Thr1091=) rs1295298917 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile) rs746123823 0.00001
NM_024753.5(TTC21B):c.3383A>G (p.Tyr1128Cys) rs1685078744 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3423A>G (p.Gln1141=) rs1176724856 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3460-3T>C rs754665883 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.3513A>G (p.Lys1171=) rs370432759 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3548T>C (p.Ile1183Thr) rs780846081 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3586T>G (p.Phe1196Val) rs754307147 0.00001
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val) rs760982788 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.3674G>A (p.Arg1225His) rs1231210163 0.00001
NM_024753.5(TTC21B):c.3680A>G (p.Asn1227Ser) rs771598715 0.00001
NM_024753.5(TTC21B):c.3685-9T>C rs777313475 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=) rs376746146 0.00001
NM_024753.5(TTC21B):c.3714A>T (p.Gly1238=) rs760683105 0.00001
NM_024753.5(TTC21B):c.3780T>C (p.Tyr1260=) rs769230631 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_024753.5(TTC21B):c.3873+7A>T rs745875005 0.00001
NM_024753.5(TTC21B):c.3874-13A>G rs910204066 0.00001
NM_024753.5(TTC21B):c.3886del (p.His1296fs) rs1452582965 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.3936G>A (p.Ala1312=) rs201470854 0.00001
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro) rs1315060629 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.435C>T (p.His145=) rs775319794 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp) rs776678493 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.51A>G (p.Arg17=) rs1242174524 0.00001
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu) rs748570902 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.576G>A (p.Gln192=) rs762917784 0.00001
NM_024753.5(TTC21B):c.592C>T (p.Leu198=) rs1320998801 0.00001
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr) rs1423263208 0.00001
NM_024753.5(TTC21B):c.681T>C (p.Asp227=) rs376038966 0.00001
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250 0.00001
NM_024753.5(TTC21B):c.705A>G (p.Ala235=) rs1435067397 0.00001
NM_024753.5(TTC21B):c.715C>T (p.Leu239=) rs761170872 0.00001
NM_024753.5(TTC21B):c.718C>T (p.Leu240Phe) rs1338382358 0.00001
NM_024753.5(TTC21B):c.796-20del rs753564394 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_024753.5(TTC21B):c.895-7T>C rs749142305 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.912T>G (p.Leu304=) rs780519055 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_024753.5(TTC21B):c.985G>A (p.Glu329Lys) rs768266139 0.00001
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166731265)_(166758440_?)dup
NC_000002.11:g.(?_166744769)_(166747518_?)del
NC_000002.11:g.(?_166746969)_(166810215_?)dup
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NC_000002.12:g.165943342del
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) rs2105344608
NM_024753.5(TTC21B):c.1010A>G (p.Gln337Arg)
NM_024753.5(TTC21B):c.1032G>A (p.Leu344=)
NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys)
NM_024753.5(TTC21B):c.1048G>A (p.Ala350Thr) rs752711108
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1057C>G (p.Leu353Val)
NM_024753.5(TTC21B):c.1061A>G (p.Asp354Gly) rs902487352
NM_024753.5(TTC21B):c.1067C>T (p.Thr356Ile)
NM_024753.5(TTC21B):c.1080C>G (p.Ala360=)
NM_024753.5(TTC21B):c.1083A>G (p.Leu361=)
NM_024753.5(TTC21B):c.1087+18A>G rs1686833362
NM_024753.5(TTC21B):c.1087+3A>G
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
NM_024753.5(TTC21B):c.1088-12G>T
NM_024753.5(TTC21B):c.1088-13T>C
NM_024753.5(TTC21B):c.1088-18T>A rs1487373774
NM_024753.5(TTC21B):c.1088-1G>A
NM_024753.5(TTC21B):c.1088-20T>A
NM_024753.5(TTC21B):c.1089A>T (p.Gly363=)
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
NM_024753.5(TTC21B):c.1103A>T (p.Gln368Leu)
NM_024753.5(TTC21B):c.1113A>T (p.Glu371Asp)
NM_024753.5(TTC21B):c.1119A>G (p.Gln373=)
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) rs749794837
NM_024753.5(TTC21B):c.1140G>A (p.Gln380=)
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.114C>T (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1152A>G (p.Leu384=)
NM_024753.5(TTC21B):c.1154A>G (p.Asn385Ser)
NM_024753.5(TTC21B):c.1155T>A (p.Asn385Lys) rs2105343770
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
NM_024753.5(TTC21B):c.1172T>C (p.Ile391Thr)
NM_024753.5(TTC21B):c.1173T>A (p.Ile391=)
NM_024753.5(TTC21B):c.1179A>G (p.Lys393=) rs2105343710
NM_024753.5(TTC21B):c.1181C>G (p.Ser394Cys) rs748339995
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1185+15_1185+19del
NM_024753.5(TTC21B):c.1185G>A (p.Ala395=) rs747042147
NM_024753.5(TTC21B):c.119G>A (p.Arg40Lys)
NM_024753.5(TTC21B):c.119G>C (p.Arg40Thr) rs1687700084
NM_024753.5(TTC21B):c.11A>C (p.Gln4Pro)
NM_024753.5(TTC21B):c.1201C>A (p.His401Asn) rs768881808
NM_024753.5(TTC21B):c.1202A>G (p.His401Arg) rs780159682
NM_024753.5(TTC21B):c.1218G>T (p.Met406Ile)
NM_024753.5(TTC21B):c.1222A>G (p.Lys408Glu) rs2105343236
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1232_1234del (p.Arg411del) rs768933427
NM_024753.5(TTC21B):c.1234C>G (p.Gln412Glu) rs2105343199
NM_024753.5(TTC21B):c.1240G>A (p.Glu414Lys)
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) rs2105343139
NM_024753.5(TTC21B):c.1266C>A (p.Val422=) rs765883060
NM_024753.5(TTC21B):c.1273A>G (p.Thr425Ala)
NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)
NM_024753.5(TTC21B):c.1292_1294del (p.Glu431del)
NM_024753.5(TTC21B):c.1302T>C (p.Pro434=)
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1339T>G (p.Phe447Val)
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) rs769816345
NM_024753.5(TTC21B):c.1353T>C (p.Ile451=)
NM_024753.5(TTC21B):c.1358T>G (p.Met453Arg)
NM_024753.5(TTC21B):c.1362G>A (p.Glu454=)
NM_024753.5(TTC21B):c.1380A>T (p.Pro460=) rs2105342870
NM_024753.5(TTC21B):c.1386+14G>A
NM_024753.5(TTC21B):c.1386+16A>G
NM_024753.5(TTC21B):c.1386+17C>T
NM_024753.5(TTC21B):c.1387-12del rs2105336073
NM_024753.5(TTC21B):c.1387-17T>C rs766567792
NM_024753.5(TTC21B):c.1389T>G (p.Pro463=)
NM_024753.5(TTC21B):c.1396C>T (p.Pro466Ser) rs956461172
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
NM_024753.5(TTC21B):c.1415C>T (p.Pro472Leu)
NM_024753.5(TTC21B):c.141A>G (p.Thr47=)
NM_024753.5(TTC21B):c.1425G>A (p.Arg475=)
NM_024753.5(TTC21B):c.1432A>G (p.Ile478Val) rs948455096
NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)
NM_024753.5(TTC21B):c.1443G>A (p.Leu481=)
NM_024753.5(TTC21B):c.1443G>C (p.Leu481=)
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
NM_024753.5(TTC21B):c.1449T>C (p.Thr483=)
NM_024753.5(TTC21B):c.1449T>G (p.Thr483=)
NM_024753.5(TTC21B):c.1479A>G (p.Gln493=)
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
NM_024753.5(TTC21B):c.1490T>C (p.Leu497Pro)
NM_024753.5(TTC21B):c.151+12T>G
NM_024753.5(TTC21B):c.151+19A>C
NM_024753.5(TTC21B):c.1512G>A (p.Leu504=) rs192305930
NM_024753.5(TTC21B):c.1512G>T (p.Leu504Phe)
NM_024753.5(TTC21B):c.1516+10A>G rs2105335742
NM_024753.5(TTC21B):c.1516+12C>T rs2105335740
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.1517-13T>C
NM_024753.5(TTC21B):c.1517-4T>C
NM_024753.5(TTC21B):c.1517-5A>C rs769174542
NM_024753.5(TTC21B):c.1517-5A>T
NM_024753.5(TTC21B):c.1517-7T>C
NM_024753.5(TTC21B):c.152-17A>G
NM_024753.5(TTC21B):c.152-19T>C
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1524T>C (p.Ile508=)
NM_024753.5(TTC21B):c.1527A>G (p.Glu509=)
NM_024753.5(TTC21B):c.1537A>G (p.Asn513Asp) rs939423391
NM_024753.5(TTC21B):c.1554C>T (p.Cys518=) rs1686303328
NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr)
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) rs199559023
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1596A>C (p.Leu532=)
NM_024753.5(TTC21B):c.1598C>A (p.Ala533Asp)
NM_024753.5(TTC21B):c.1621A>G (p.Lys541Glu) rs2105329308
NM_024753.5(TTC21B):c.162A>G (p.Gln54=)
NM_024753.5(TTC21B):c.1654T>C (p.Cys552Arg)
NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)
NM_024753.5(TTC21B):c.1677G>T (p.Val559=)
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.168T>C (p.Ala56=)
NM_024753.5(TTC21B):c.1714T>C (p.Ser572Pro) rs2105327024
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val)
NM_024753.5(TTC21B):c.1744G>A (p.Ala582Thr) rs755056642
NM_024753.5(TTC21B):c.1756C>A (p.Leu586Met) rs1686216272
NM_024753.5(TTC21B):c.1774T>G (p.Leu592Val)
NM_024753.5(TTC21B):c.1785G>T (p.Met595Ile)
NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile)
NM_024753.5(TTC21B):c.1801T>C (p.Ser601Pro) rs1686214416
NM_024753.5(TTC21B):c.1807A>G (p.Lys603Glu)
NM_024753.5(TTC21B):c.1816G>A (p.Asp606Asn)
NM_024753.5(TTC21B):c.1832T>C (p.Val611Ala)
NM_024753.5(TTC21B):c.1836T>A (p.Asp612Glu)
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
NM_024753.5(TTC21B):c.1848T>C (p.Arg616=)
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
NM_024753.5(TTC21B):c.1866A>G (p.Glu622=)
NM_024753.5(TTC21B):c.187A>G (p.Ile63Val)
NM_024753.5(TTC21B):c.1883G>T (p.Arg628Leu)
NM_024753.5(TTC21B):c.1899+15A>G
NM_024753.5(TTC21B):c.1899+18T>A
NM_024753.5(TTC21B):c.1900-16A>G
NM_024753.5(TTC21B):c.1900-17del rs1312196560
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.1900-4A>G
NM_024753.5(TTC21B):c.1902T>C (p.His634=)
NM_024753.5(TTC21B):c.1906G>A (p.Ala636Thr)
NM_024753.5(TTC21B):c.1927G>A (p.Ala643Thr)
NM_024753.5(TTC21B):c.1932C>A (p.Ile644=)
NM_024753.5(TTC21B):c.1932C>T (p.Ile644=)
NM_024753.5(TTC21B):c.1937A>T (p.Glu646Val) rs1376184705
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) rs2105324384
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
NM_024753.5(TTC21B):c.1953T>C (p.Ser651=)
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=) rs1686129480
NM_024753.5(TTC21B):c.1960G>A (p.Val654Met)
NM_024753.5(TTC21B):c.1962G>A (p.Val654=) rs1559056688
NM_024753.5(TTC21B):c.1968T>A (p.Val656=)
NM_024753.5(TTC21B):c.1972A>G (p.Ile658Val)
NM_024753.5(TTC21B):c.1972A>T (p.Ile658Phe) rs2105324307
NM_024753.5(TTC21B):c.2005G>C (p.Asp669His) rs1406594364
NM_024753.5(TTC21B):c.2009T>C (p.Ile670Thr) rs778504663
NM_024753.5(TTC21B):c.2011G>C (p.Glu671Gln)
NM_024753.5(TTC21B):c.2015G>C (p.Arg672Pro) rs756604135
NM_024753.5(TTC21B):c.2026A>G (p.Ile676Val) rs2105324144
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.2047G>A (p.Glu683Lys)
NM_024753.5(TTC21B):c.2052G>A (p.Gln684=)
NM_024753.5(TTC21B):c.205G>A (p.Val69Ile)
NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
NM_024753.5(TTC21B):c.2074G>C (p.Glu692Gln) rs1686122784
NM_024753.5(TTC21B):c.2095C>G (p.Leu699Val) rs200182771
NM_024753.5(TTC21B):c.2095C>T (p.Leu699=)
NM_024753.5(TTC21B):c.21+14_21+15insGGTGAGCT
NM_024753.5(TTC21B):c.21+18_21+29del
NM_024753.5(TTC21B):c.21+2TGAGCGGG[2] rs59477041
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5] rs59477041
NM_024753.5(TTC21B):c.21+33_21+34insGCGGGTGAGCGG rs569432248
NM_024753.5(TTC21B):c.21+5_21+6insGGTGAGTG
NM_024753.5(TTC21B):c.21+7G>T
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
NM_024753.5(TTC21B):c.2117T>G (p.Met706Arg) rs2105323931
NM_024753.5(TTC21B):c.2118G>A (p.Met706Ile)
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
NM_024753.5(TTC21B):c.2136T>C (p.Phe712=)
NM_024753.5(TTC21B):c.2138+18C>T
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2138+20C>T
NM_024753.5(TTC21B):c.2138+5G>C rs1574099823
NM_024753.5(TTC21B):c.2139-14G>C
NM_024753.5(TTC21B):c.2139-18T>C
NM_024753.5(TTC21B):c.2156T>C (p.Met719Thr) rs2105321275
NM_024753.5(TTC21B):c.2160T>C (p.Ala720=)
NM_024753.5(TTC21B):c.2172T>C (p.Ser724=)
NM_024753.5(TTC21B):c.2179C>T (p.Leu727Phe) rs1214420591
NM_024753.5(TTC21B):c.2180T>C (p.Leu727Pro)
NM_024753.5(TTC21B):c.2181C>T (p.Leu727=) rs1293610485
NM_024753.5(TTC21B):c.2197A>G (p.Met733Val)
NM_024753.5(TTC21B):c.219T>C (p.Ser73=)
NM_024753.5(TTC21B):c.22-16C>G
NM_024753.5(TTC21B):c.22-16C>T rs2105370679
NM_024753.5(TTC21B):c.22-20_22-19insAGACTTTGATTAA
NM_024753.5(TTC21B):c.2211+14T>C
NM_024753.5(TTC21B):c.2211+20T>C
NM_024753.5(TTC21B):c.2211G>A (p.Glu737=)
NM_024753.5(TTC21B):c.2223C>T (p.Ala741=)
NM_024753.5(TTC21B):c.2233T>G (p.Tyr745Asp)
NM_024753.5(TTC21B):c.223C>T (p.Leu75Phe)
NM_024753.5(TTC21B):c.2241A>G (p.Gln747=)
NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)
NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr)
NM_024753.5(TTC21B):c.2288G>A (p.Gly763Asp)
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
NM_024753.5(TTC21B):c.2309A>G (p.His770Arg)
NM_024753.5(TTC21B):c.2322+8C>T
NM_024753.5(TTC21B):c.2323-17G>A
NM_024753.5(TTC21B):c.2323-18G>A
NM_024753.5(TTC21B):c.2328C>T (p.Ile776=) rs916756048
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) rs1559053862
NM_024753.5(TTC21B):c.2355T>C (p.Thr785=)
NM_024753.5(TTC21B):c.2357G>T (p.Gly786Val)
NM_024753.5(TTC21B):c.2360A>C (p.Gln787Pro)
NM_024753.5(TTC21B):c.2368T>C (p.Tyr790His) rs910370044
NM_024753.5(TTC21B):c.2385G>A (p.Leu795=)
NM_024753.5(TTC21B):c.2391G>A (p.Glu797=)
NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln) rs2105318301
NM_024753.5(TTC21B):c.2404T>C (p.Leu802=)
NM_024753.5(TTC21B):c.2409A>G (p.Lys803=)
NM_024753.5(TTC21B):c.240C>T (p.Ala80=)
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)
NM_024753.5(TTC21B):c.2415T>C (p.Tyr805=) rs2105318229
NM_024753.5(TTC21B):c.242A>C (p.His81Pro) rs1687690052
NM_024753.5(TTC21B):c.242A>G (p.His81Arg)
NM_024753.5(TTC21B):c.2436T>C (p.Leu812=)
NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly)
NM_024753.5(TTC21B):c.2445T>C (p.Ala815=)
NM_024753.5(TTC21B):c.244A>C (p.Lys82Gln) rs774744374
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
NM_024753.5(TTC21B):c.2461+18G>A rs2105318101
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2462-12A>C
NM_024753.5(TTC21B):c.2462-18_2462-17del
NM_024753.5(TTC21B):c.2471T>G (p.Leu824Arg)
NM_024753.5(TTC21B):c.2479C>G (p.Leu827Val)
NM_024753.5(TTC21B):c.2491G>A (p.Gly831Arg)
NM_024753.5(TTC21B):c.2497T>C (p.Cys833Arg) rs1685788738
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2544T>C (p.Gly848=)
NM_024753.5(TTC21B):c.2553C>A (p.Ile851=)
NM_024753.5(TTC21B):c.255T>G (p.Pro85=)
NM_024753.5(TTC21B):c.2564A>G (p.Gln855Arg) rs2105313560
NM_024753.5(TTC21B):c.2568+11T>C rs2105313535
NM_024753.5(TTC21B):c.2568+15C>G rs368590446
NM_024753.5(TTC21B):c.2568+6C>G rs2105313543
NM_024753.5(TTC21B):c.2568+8C>T
NM_024753.5(TTC21B):c.2568+9A>T
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2569-15A>G
NM_024753.5(TTC21B):c.2569-18T>G
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) rs895624584
NM_024753.5(TTC21B):c.2575G>A (p.Glu859Lys) rs2105306427
NM_024753.5(TTC21B):c.258T>G (p.Asn86Lys) rs2105370137
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
NM_024753.5(TTC21B):c.259C>G (p.Pro87Ala)
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
NM_024753.5(TTC21B):c.2616G>A (p.Gln872=)
NM_024753.5(TTC21B):c.262+19A>G
NM_024753.5(TTC21B):c.262+4T>C
NM_024753.5(TTC21B):c.2622T>C (p.Asp874=)
NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp)
NM_024753.5(TTC21B):c.2628T>C (p.Val876=)
NM_024753.5(TTC21B):c.262G>C (p.Asp88His)
NM_024753.5(TTC21B):c.263-13T>C
NM_024753.5(TTC21B):c.263-16C>T
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2655A>G (p.Glu885=)
NM_024753.5(TTC21B):c.2658T>C (p.Ile886=)
NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr)
NM_024753.5(TTC21B):c.267A>G (p.Arg89=)
NM_024753.5(TTC21B):c.2683G>C (p.Val895Leu)
NM_024753.5(TTC21B):c.2686G>T (p.Ala896Ser)
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) rs1685569880
NM_024753.5(TTC21B):c.2698T>C (p.Tyr900His) rs1336338964
NM_024753.5(TTC21B):c.2710A>G (p.Ile904Val)
NM_024753.5(TTC21B):c.2720A>G (p.Tyr907Cys)
NM_024753.5(TTC21B):c.2734G>A (p.Val912Ile) rs756613993
NM_024753.5(TTC21B):c.2745_2750del (p.Glu915_Thr916del) rs2105306008
NM_024753.5(TTC21B):c.2747C>G (p.Thr916Arg) rs781416133
NM_024753.5(TTC21B):c.2757+11T>C
NM_024753.5(TTC21B):c.2757+14T>C
NM_024753.5(TTC21B):c.2757+7A>G
NM_024753.5(TTC21B):c.2758-11T>C rs968021831
NM_024753.5(TTC21B):c.2758-11T>G rs968021831
NM_024753.5(TTC21B):c.2758-7T>C
NM_024753.5(TTC21B):c.2760T>G (p.Ile920Met)
NM_024753.5(TTC21B):c.2772G>A (p.Leu924=)
NM_024753.5(TTC21B):c.2777G>C (p.Arg926Pro) rs747246700
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2788G>A (p.Ala930Thr) rs1685493323
NM_024753.5(TTC21B):c.2790A>C (p.Ala930=)
NM_024753.5(TTC21B):c.2799C>T (p.Asp933=)
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2815C>A (p.Arg939=) rs151227843
NM_024753.5(TTC21B):c.2854G>A (p.Glu952Lys)
NM_024753.5(TTC21B):c.2859T>C (p.Ala953=) rs993825534
NM_024753.5(TTC21B):c.2864C>T (p.Thr955Ile) rs1443929851
NM_024753.5(TTC21B):c.2868+11G>C
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-12T>A
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.2880T>C (p.Asp960=)
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2886G>T (p.Met962Ile)
NM_024753.5(TTC21B):c.2892A>G (p.Arg964=)
NM_024753.5(TTC21B):c.291C>A (p.Ala97=) rs1687531560
NM_024753.5(TTC21B):c.2920C>G (p.His974Asp) rs1254330391
NM_024753.5(TTC21B):c.2921A>G (p.His974Arg) rs1311327616
NM_024753.5(TTC21B):c.2946G>A (p.Lys982=)
NM_024753.5(TTC21B):c.2950+18G>T rs2105301685
NM_024753.5(TTC21B):c.2950+8C>A
NM_024753.5(TTC21B):c.2951-10T>C
NM_024753.5(TTC21B):c.2951-13del
NM_024753.5(TTC21B):c.2959A>G (p.Met987Val) rs889749746
NM_024753.5(TTC21B):c.2962A>G (p.Thr988Ala)
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
NM_024753.5(TTC21B):c.2982T>C (p.Asp994=) rs1685169233
NM_024753.5(TTC21B):c.2990G>A (p.Arg997Lys) rs2105292122
NM_024753.5(TTC21B):c.2993G>T (p.Arg998Ile) rs189561071
NM_024753.5(TTC21B):c.2994A>G (p.Arg998=) rs2105292113
NM_024753.5(TTC21B):c.2995T>C (p.Cys999Arg)
NM_024753.5(TTC21B):c.2996G>T (p.Cys999Phe)
NM_024753.5(TTC21B):c.2999G>A (p.Gly1000Glu)
NM_024753.5(TTC21B):c.3003A>G (p.Lys1001=)
NM_024753.5(TTC21B):c.3006C>T (p.Leu1002=)
NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys)
NM_024753.5(TTC21B):c.3011A>T (p.Asp1004Val)
NM_024753.5(TTC21B):c.3016C>G (p.Pro1006Ala)
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
NM_024753.5(TTC21B):c.3021A>G (p.Arg1007=)
NM_024753.5(TTC21B):c.3038A>C (p.Glu1013Ala)
NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) rs2105292027
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) rs2105292022
NM_024753.5(TTC21B):c.3048C>G (p.Asn1016Lys) rs1685165771
NM_024753.5(TTC21B):c.3054A>G (p.Arg1018=)
NM_024753.5(TTC21B):c.3061T>C (p.Leu1021=)
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) rs2105291990
NM_024753.5(TTC21B):c.3077A>G (p.Gln1026Arg) rs753645075
NM_024753.5(TTC21B):c.3099T>C (p.Leu1033=)
NM_024753.5(TTC21B):c.3101+13A>G
NM_024753.5(TTC21B):c.3101+4A>G rs2105291943
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) rs2105291727
NM_024753.5(TTC21B):c.3119A>G (p.Asn1040Ser) rs2105291721
NM_024753.5(TTC21B):c.3121G>A (p.Asp1041Asn) rs2105291718
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
NM_024753.5(TTC21B):c.3142A>G (p.Lys1048Glu)
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) rs2105291679
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3160G>A (p.Asp1054Asn)
NM_024753.5(TTC21B):c.3162C>T (p.Asp1054=) rs1574070946
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) rs772612775
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
NM_024753.5(TTC21B):c.3185A>C (p.Asn1062Thr) rs1477708117
NM_024753.5(TTC21B):c.3186T>C (p.Asn1062=)
NM_024753.5(TTC21B):c.3191T>C (p.Ile1064Thr)
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp) rs1574070858
NM_024753.5(TTC21B):c.3217G>A (p.Glu1073Lys)
NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=)
NM_024753.5(TTC21B):c.3263+17_3263+18del
NM_024753.5(TTC21B):c.3263+19T>A
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3264-13T>C rs754946168
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
NM_024753.5(TTC21B):c.3264-19T>G rs775923873
NM_024753.5(TTC21B):c.3264-6A>G rs1685082857
NM_024753.5(TTC21B):c.3279G>A (p.Lys1093=)
NM_024753.5(TTC21B):c.3294A>G (p.Gln1098=)
NM_024753.5(TTC21B):c.330C>T (p.Ala110=)
NM_024753.5(TTC21B):c.3338C>T (p.Pro1113Leu)
NM_024753.5(TTC21B):c.3344C>A (p.Thr1115Asn) rs1307274284
NM_024753.5(TTC21B):c.3350A>T (p.Gln1117Leu) rs148631747
NM_024753.5(TTC21B):c.3368G>A (p.Arg1123His)
NM_024753.5(TTC21B):c.3370A>G (p.Ile1124Val)
NM_024753.5(TTC21B):c.3378A>G (p.Glu1126=) rs2105289408
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) rs1553506530
NM_024753.5(TTC21B):c.3387C>T (p.Cys1129=) rs781212439
NM_024753.5(TTC21B):c.3414T>C (p.Asn1138=) rs2105289346
NM_024753.5(TTC21B):c.3448G>A (p.Ala1150Thr)
NM_024753.5(TTC21B):c.3448GCA[1] (p.Ala1151del)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
NM_024753.5(TTC21B):c.3453A>G (p.Ala1151=) rs951636516
NM_024753.5(TTC21B):c.3459+5G>T rs1380985852
NM_024753.5(TTC21B):c.3460-12del
NM_024753.5(TTC21B):c.3460-5del
NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr)
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
NM_024753.5(TTC21B):c.3474A>G (p.Pro1158=)
NM_024753.5(TTC21B):c.3475G>A (p.Ala1159Thr) rs2105284735
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser)
NM_024753.5(TTC21B):c.3481T>C (p.Leu1161=) rs1457024463
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
NM_024753.5(TTC21B):c.3488T>A (p.Met1163Lys)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.3498T>C (p.Ala1166=) rs2105284685
NM_024753.5(TTC21B):c.3498T>G (p.Ala1166=)
NM_024753.5(TTC21B):c.3505A>T (p.Ile1169Phe)
NM_024753.5(TTC21B):c.3510G>A (p.Leu1170=)
NM_024753.5(TTC21B):c.3516G>A (p.Gln1172=)
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3522A>T (p.Pro1174=) rs886218419
NM_024753.5(TTC21B):c.3523C>G (p.Arg1175Gly)
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg) rs745900529
NM_024753.5(TTC21B):c.3539T>C (p.Leu1180Pro)
NM_024753.5(TTC21B):c.354A>G (p.Leu118=)
NM_024753.5(TTC21B):c.3551C>G (p.Ala1184Gly)
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln)
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
NM_024753.5(TTC21B):c.3614A>G (p.Asp1205Gly) rs2105284491
NM_024753.5(TTC21B):c.3624T>A (p.Ile1208=)
NM_024753.5(TTC21B):c.3627A>G (p.Gln1209=)
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
NM_024753.5(TTC21B):c.3642C>T (p.Asp1214=) rs2105284441
NM_024753.5(TTC21B):c.3644T>C (p.Met1215Thr)
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
NM_024753.5(TTC21B):c.3666G>A (p.Arg1222=)
NM_024753.5(TTC21B):c.3670C>T (p.Leu1224=)
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.3684+8A>C rs373955678
NM_024753.5(TTC21B):c.3684+8A>G rs373955678
NM_024753.5(TTC21B):c.3685-19G>A
NM_024753.5(TTC21B):c.3685-19_3685-18dup
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu) rs370484375
NM_024753.5(TTC21B):c.3690C>T (p.Cys1230=)
NM_024753.5(TTC21B):c.3697G>C (p.Ala1233Pro)
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
NM_024753.5(TTC21B):c.3717C>T (p.Tyr1239=) rs2105281091
NM_024753.5(TTC21B):c.3723G>A (p.Met1241Ile) rs2105281084
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)
NM_024753.5(TTC21B):c.3742A>T (p.Thr1248Ser) rs1684808847
NM_024753.5(TTC21B):c.3767T>C (p.Met1256Thr) rs2105281020
NM_024753.5(TTC21B):c.3770C>A (p.Ala1257Glu)
NM_024753.5(TTC21B):c.3782G>A (p.Ser1261Asn) rs371730439
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3783C>T (p.Ser1261=) rs755467705
NM_024753.5(TTC21B):c.3802G>A (p.Val1268Ile)
NM_024753.5(TTC21B):c.3804A>G (p.Val1268=) rs1684806310
NM_024753.5(TTC21B):c.3805+11C>T rs2105280892
NM_024753.5(TTC21B):c.3805+13A>T
NM_024753.5(TTC21B):c.3805+15C>T
NM_024753.5(TTC21B):c.3805+20A>G rs772796936
NM_024753.5(TTC21B):c.3805+9G>A
NM_024753.5(TTC21B):c.3806-17G>C
NM_024753.5(TTC21B):c.3806-18T>C
NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)
NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)
NM_024753.5(TTC21B):c.3846T>C (p.Tyr1282=)
NM_024753.5(TTC21B):c.384G>A (p.Arg128=)
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
NM_024753.5(TTC21B):c.3873+11A>C
NM_024753.5(TTC21B):c.3873+13A>G
NM_024753.5(TTC21B):c.3873+19A>G
NM_024753.5(TTC21B):c.3873+8C>T
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.3874-16T>A
NM_024753.5(TTC21B):c.3874-19T>G
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser)
NM_024753.5(TTC21B):c.3906C>T (p.Ile1302=)
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
NM_024753.5(TTC21B):c.3912G>A (p.Lys1304=) rs976520219
NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val) rs147540469
NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu) rs139327086
NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)
NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=) rs1060504949
NM_024753.5(TTC21B):c.3942A>G (p.Leu1314=) rs2105274083
NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu) rs2105274076
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg)
NM_024753.5(TTC21B):c.40T>C (p.Cys14Arg)
NM_024753.5(TTC21B):c.40T>G (p.Cys14Gly) rs780354129
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr)
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met)
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn)
NM_024753.5(TTC21B):c.429+5C>T
NM_024753.5(TTC21B):c.430-15T>C
NM_024753.5(TTC21B):c.430-5del
NM_024753.5(TTC21B):c.432A>G (p.Gly144=)
NM_024753.5(TTC21B):c.433del (p.His145fs)
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly) rs145726127
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu)
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg)
NM_024753.5(TTC21B):c.49A>G (p.Arg17Gly)
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser)
NM_024753.5(TTC21B):c.541C>T (p.Leu181=)
NM_024753.5(TTC21B):c.543G>C (p.Leu181=)
NM_024753.5(TTC21B):c.544C>T (p.Leu182=) rs2105363182
NM_024753.5(TTC21B):c.552+11G>C rs1687431487
NM_024753.5(TTC21B):c.553-10C>T
NM_024753.5(TTC21B):c.553-13T>C
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.553-19T>C rs2105360690
NM_024753.5(TTC21B):c.553-5A>G
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys)
NM_024753.5(TTC21B):c.573C>T (p.Arg191=)
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu) rs2105360604
NM_024753.5(TTC21B):c.58C>T (p.His20Tyr) rs938432348
NM_024753.5(TTC21B):c.594G>A (p.Leu198=)
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala) rs1387736357
NM_024753.5(TTC21B):c.600T>C (p.Thr200=)
NM_024753.5(TTC21B):c.615C>T (p.Ile205=)
NM_024753.5(TTC21B):c.61C>A (p.His21Asn)
NM_024753.5(TTC21B):c.645T>C (p.Phe215=)
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
NM_024753.5(TTC21B):c.667C>T (p.Leu223=)
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
NM_024753.5(TTC21B):c.69A>G (p.Leu23=)
NM_024753.5(TTC21B):c.710+17T>C
NM_024753.5(TTC21B):c.710+9A>G
NM_024753.5(TTC21B):c.711-17A>G
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.711-8del
NM_024753.5(TTC21B):c.723A>G (p.Gln241=)
NM_024753.5(TTC21B):c.735T>C (p.Asn245=)
NM_024753.5(TTC21B):c.737T>C (p.Val246Ala)
NM_024753.5(TTC21B):c.755A>G (p.Gln252Arg)
NM_024753.5(TTC21B):c.766T>G (p.Tyr256Asp)
NM_024753.5(TTC21B):c.768T>C (p.Tyr256=)
NM_024753.5(TTC21B):c.770T>C (p.Val257Ala)
NM_024753.5(TTC21B):c.776G>C (p.Arg259Thr) rs1347669823
NM_024753.5(TTC21B):c.779A>T (p.Glu260Val)
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.795+10A>G rs2105348659
NM_024753.5(TTC21B):c.795+10del rs1559068659
NM_024753.5(TTC21B):c.795+19_795+22del rs2105348638
NM_024753.5(TTC21B):c.796-4T>C
NM_024753.5(TTC21B):c.796-6T>C
NM_024753.5(TTC21B):c.797C>T (p.Ala266Val) rs562559211
NM_024753.5(TTC21B):c.801C>T (p.Ser267=)
NM_024753.5(TTC21B):c.820G>C (p.Gly274Arg) rs2105347173
NM_024753.5(TTC21B):c.828A>G (p.Thr276=)
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser)
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.864C>T (p.Phe288=)
NM_024753.5(TTC21B):c.873T>C (p.Ile291=)
NM_024753.5(TTC21B):c.879C>G (p.Leu293=)
NM_024753.5(TTC21B):c.887G>A (p.Ser296Asn)
NM_024753.5(TTC21B):c.894+10C>G
NM_024753.5(TTC21B):c.894+17T>C
NM_024753.5(TTC21B):c.895-14T>A
NM_024753.5(TTC21B):c.895-17T>C rs2105344934
NM_024753.5(TTC21B):c.895-1G>A rs773008707
NM_024753.5(TTC21B):c.895-3T>C
NM_024753.5(TTC21B):c.895-9del
NM_024753.5(TTC21B):c.895-9dup rs752610067
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.902G>A (p.Arg301His)
NM_024753.5(TTC21B):c.909A>G (p.Gln303=)
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
NM_024753.5(TTC21B):c.918T>C (p.Leu306=)
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
NM_024753.5(TTC21B):c.933G>A (p.Thr311=)
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
NM_024753.5(TTC21B):c.945A>G (p.Arg315=)
NM_024753.5(TTC21B):c.96G>A (p.Arg32=) rs1271448820
NM_024753.5(TTC21B):c.984A>G (p.Thr328=) rs1574121074
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024753.5(TTC21B):c.990T>C (p.Leu330=) rs2105344681
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)
NM_024753.5(TTC21B):c.99T>C (p.Tyr33=)

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