NM_139319:p.Thr8Ile
NM_139319:c.23C>T
chr12:100751192:C>T
NM_139319:p.Glu11Stop
NM_139319:c.31G>T
chr12:100751200:G>T
NM_139319:p.Lys18Lys
NM_139319:c.54G>A
chr12:100751223:G>A
NM_139319:p.Glu19Gln
NM_139319:c.55G>C
chr12:100751224:G>C
NM_139319:p.Ser28Thr
NM_139319:c.82T>A
chr12:100751251:T>A
NM_139319:c.101+5A>C
chr12:100751275:A>C
NM_139319:c.101+8T>C
chr12:100751278:T>C
NM_139319:p.Asp37Asn
NM_139319:c.109G>A
chr12:100774486:G>A
NM_139319:p.Thr40Ala
NM_139319:c.118A>G
chr12:100774495:A>G
NM_139319:p.Pro54Leu
NM_139319:c.161C>T
chr12:100774538:C>T
NM_139319:p.Pro54Pro
NM_139319:c.162G>A
chr12:100774539:G>A
NM_139319:p.Thr57Thr
NM_139319:c.171G>A
chr12:100774548:G>A
NM_139319:p.Pro62Leu
NM_139319:c.185C>T
chr12:100774562:C>T
NM_139319:p.Asp66Ala
NM_139319:c.197A>C
chr12:100774574:A>C
NM_139319:p.Cys69Ser
NM_139319:c.206G>C
chr12:100774583:G>C
NM_139319:p.Cys70Cys
NM_139319:c.210C>T
chr12:100774587:C>T
NM_139319:p.Gly71Asp
NM_139319:c.212G>A
chr12:100774589:G>A
NM_139319:p.Arg75Cys
NM_139319:c.223C>T
chr12:100774600:C>T
NM_139319:p.Ile78Val
NM_139319:c.232A>G
chr12:100774609:A>G
NM_139319:p.Ala79Ala
NM_139319:c.237T>C
chr12:100774614:T>C
NM_139319:p.Ile92Ile
NM_139319:c.276C>A
chr12:100774653:C>A
NM_139319:p.Arg93Gln
NM_139319:c.278G>A
chr12:100774655:G>A
NM_139319:p.Gly97Gly
NM_139319:c.291A>G
chr12:100774668:A>G
NM_139319:p.Val104Ile
NM_139319:c.310G>A
chr12:100774687:G>A
NM_139319:p.Thr108Thr
NM_139319:c.324C>T
chr12:100774701:C>T
NM_139319:p.Val109Ile
NM_139319:c.325G>A
chr12:100774702:G>A
NM_139319:p.Tyr110Tyr
NM_139319:c.330T>C
chr12:100774707:T>C
NM_139319:p.Asp112Asp
NM_139319:c.336T>C
chr12:100774713:T>C
NM_139319:p.Pro115Pro
NM_139319:c.345G>A
chr12:100774722:G>A
NM_139319:c.354+16T>C
chr12:100774747:T>C
NM_139319:c.355-4C>A
chr12:100784775:C>A
NM_139319:c.473+2T>C
chr12:100784899:T>C
NM_139319:c.473+13G>A
chr12:100784910:G>A
NM_139319:c.473+15T>C
chr12:100784912:T>C
NM_139319:c.473+16A>G
chr12:100784913:A>G
NM_139319:p.Ser168Ser
NM_139319:c.504G>A
chr12:100787177:G>A
NM_139319:p.Met172Val
NM_139319:c.514A>G
chr12:100787187:A>G
NM_139319:p.Ala178Thr
NM_139319:c.532G>A
chr12:100787205:G>A
NM_139319:p.Gly183Arg
NM_139319:c.547G>A
chr12:100787220:G>A
NM_139319:p.Cys184Cys
NM_139319:c.552C>T
chr12:100787225:C>T
NM_139319:p.Leu191Leu
NM_139319:c.571C>T
chr12:100787244:C>T
NM_139319:c.573G>T
chr12:100787246:G>T
NM_139319:p.Gly193Gly
NM_139319:c.579T>A
chr12:100787252:T>A
NM_139319:c.589-19T>C
chr12:100790089:T>C
NM_139319:p.His204His
NM_139319:c.612T>C
chr12:100790131:T>C
NM_139319:p.Ala211Val
NM_139319:c.632C>T
chr12:100790151:C>T
NM_139319:p.Pro213Arg
NM_139319:c.638C>G
chr12:100790157:C>G
NM_139319:p.Ala220Thr
NM_139319:c.658G>A
chr12:100790177:G>A
NM_139319:c.676+18G>A
chr12:100790213:G>A
NM_139319:p.Met235Ile
NM_139319:c.705G>A
chr12:100795583:G>A
NM_139319:p.Leu237Leu
NM_139319:c.711G>A
chr12:100795589:G>A
NM_139319:p.Leu241Leu
NM_139319:c.723G>A
chr12:100795601:G>A
NM_139319:p.Gly246Glu
NM_139319:c.737G>A
chr12:100795615:G>A
NM_139319:p.Ser248Phe
NM_139319:c.743C>T
chr12:100795621:C>T
NM_139319:p.Tyr254Tyr
NM_139319:c.762T>C
chr12:100795640:T>C
NM_139319:p.Ile260Ile
NM_139319:c.780T>C
chr12:100796134:T>C
NM_139319:p.Tyr286Tyr
NM_139319:c.858T>C
chr12:100796212:T>C
NM_139319:p.Ser301Arg
NM_139319:c.903T>G
chr12:100796257:T>G
NM_139319:p.Thr305Ile
NM_139319:c.914C>T
chr12:100796384:C>T
NM_139319:p.Pro306Ser
NM_139319:c.916C>T
chr12:100796386:C>T
NM_139319:p.Tyr317Tyr
NM_139319:c.951T>C
chr12:100796421:T>C
NM_139319:p.Ala339Thr
NM_139319:c.1015G>A
chr12:100796485:G>A
NM_139319:p.Ala339Asp
NM_139319:c.1016C>A
chr12:100796486:C>A
NM_139319:p.Tyr340His
NM_139319:c.1018T>C
chr12:100796488:T>C
NM_139319:p.Val344Ala
NM_139319:c.1031T>C
chr12:100796501:T>C
NM_139319:c.1053+5A>G
chr12:100796528:A>G
NM_139319:c.1054-12T>C
chr12:100797804:T>C
NM_139319:c.1054-8C>A
chr12:100797808:C>A
NM_139319:p.Ile365Ile
NM_139319:c.1095C>T
chr12:100797857:C>T
NM_139319:p.Ala374Ser
NM_139319:c.1120G>T
chr12:100797882:G>T
NM_139319:p.Leu383Leu
NM_139319:c.1149A>G
chr12:100797911:A>G
NM_139319:c.1186+9G>T
chr12:100797957:G>T
NM_139319:c.1186+16T>C
chr12:100797964:T>C
NM_139319:c.1187-16C>A
chr12:100806532:C>A
NM_139319:p.Leu405Val
NM_139319:c.1213C>G
chr12:100806574:C>G
NM_139319:p.Ser410Leu
NM_139319:c.1229C>T
chr12:100806590:C>T
NM_139319:p.Val415Met
NM_139319:c.1243G>A
chr12:100806604:G>A
NM_139319:p.Gly425Arg
NM_139319:c.1273G>A
chr12:100806634:G>A
NM_139319:c.1298-17T>A
chr12:100811790:T>A
NM_139319:p.Gly433Gly
NM_139319:c.1299T>A
chr12:100811808:T>A
NM_139319:p.Arg444Cys
NM_139319:c.1330C>T
chr12:100811839:C>T
NM_139319:p.Arg444Arg
NM_139319:c.1332C>G
chr12:100811841:C>G
NM_139319:p.Met450Ile
NM_139319:c.1350G>A
chr12:100811859:G>A
NM_139319:p.Gly451Gly
NM_139319:c.1353G>C
chr12:100811862:G>C
NM_139319:p.Asn454Asn
NM_139319:c.1362C>T
chr12:100811871:C>T
NM_139319:p.Gly461Ala
NM_139319:c.1382G>C
chr12:100811891:G>C
NM_139319:p.Leu466Ile
NM_139319:c.1396C>A
chr12:100811905:C>A
NM_139319:p.Val468Val
NM_139319:c.1404C>T
chr12:100811913:C>T
NM_139319:p.Arg473Lys
NM_139319:c.1418G>A
chr12:100811927:G>A
NM_139319:c.1426-18C>A
chr12:100813575:C>A
NM_139319:p.Arg477Cys
NM_139319:c.1429C>T
chr12:100813596:C>T
NM_139319:p.Arg477Leu
NM_139319:c.1430G>T
chr12:100813597:G>T
NM_139319:p.Leu485Phe
NM_139319:c.1453C>T
chr12:100813620:C>T
NM_139319:p.Tyr498Tyr
NM_139319:c.1494T>C
chr12:100813661:T>C
NM_139319:p.Asp511His
NM_139319:c.1531G>C
chr12:100813698:G>C
NM_139319:p.Cys520Phe
NM_139319:c.1559G>T
chr12:100813726:G>T
NM_139319:p.Ile523Val
NM_139319:c.1567A>G
chr12:100813734:A>G
NM_139319:p.Asp526Asp
NM_139319:c.1578C>T
chr12:100813745:C>T
NM_139319:p.Leu528Phe
NM_139319:c.1584A>C
chr12:100813751:A>C
NM_139319:p.Phe539Val
NM_139319:c.1615T>G
chr12:100813782:T>G
NM_139319:p.Ala540Val
NM_139319:c.1619C>T
chr12:100813786:C>T
NM_139319:c.1630_1632delAAG
chr12:100813797:AAG>-
NM_139319:p.Gly549Arg
NM_139319:c.1645G>A
chr12:100813812:G>A
NM_139319:p.Leu570Leu
NM_139319:c.1710T>C
chr12:100813877:T>C
NM_139319:c.*1T>C
chr12:100813938:T>C
NM_000441:p.Met1Thr
NM_000441:c.2T>C
chr7:107302088:T>C
NM_000441:p.Met1Ile
NM_000441:c.3G>C
chr7:107302089:G>C
NM_000441:p.Gly5Gly
NM_000441:c.15C>A
chr7:107302101:C>A
NM_000441:p.Gly6Val
NM_000441:c.17G>T
chr7:107302103:G>T
NM_000441:p.Ser8Stop
NM_000441:c.23C>A
chr7:107302109:C>A
NM_000441:p.Ser8Leu
NM_000441:c.23C>T
chr7:107302109:C>T
NM_000441:p.Pro10Thr
NM_000441:c.28C>A
chr7:107302114:C>A
NM_000441:p.Met21Val
NM_000441:c.61A>G
chr7:107302147:A>G
NM_000441:p.Val22Val
NM_000441:c.66G>T
chr7:107302152:G>T
NM_000441:p.Ser23Stop
NM_000441:c.68C>A
chr7:107302154:C>A
NM_000441:p.Arg24Gly
NM_000441:c.70C>G
chr7:107302156:C>G
NM_000441:p.Arg24Leu
NM_000441:c.71G>T
chr7:107302157:G>T
NM_000441:p.Pro25Leu
NM_000441:c.74C>T
chr7:107302160:C>T
NM_000441:p.Ser28Arg
NM_000441:c.82A>C
chr7:107302168:A>C
NM_000441:c.84C>A
chr7:107302170:C>A
NM_000441:p.Glu29Gln
NM_000441:c.85G>C
chr7:107302171:G>C
NM_000441:p.Glu29Stop
NM_000441:c.85G>T
chr7:107302171:G>T
NM_000441:p.Glu29Asp
NM_000441:c.87G>C
chr7:107302173:G>C
NM_000441:p.Glu37Stop
NM_000441:c.109G>T
chr7:107302195:G>T
NM_000441:p.Arg43His
NM_000441:c.128G>A
chr7:107302214:G>A
NM_000441:p.Glu48Lys
NM_000441:c.142G>A
chr7:107302228:G>A
NM_000441:p.Leu50Arg
NM_000441:c.149T>G
chr7:107302235:T>G
NM_000441:p.Ser57Stop
NM_000441:c.170C>A
chr7:107303746:C>A
NM_000441:c.170C>G
chr7:107303746:C>G
NM_000441:p.Ala61Ser
NM_000441:c.181G>T
chr7:107303757:G>T
NM_000441:p.Thr67Ser
NM_000441:c.200C>G
chr7:107303776:C>G
NM_000441:p.Pro70Leu
NM_000441:c.209C>T
chr7:107303785:C>T
NM_000441:p.Ile71Val
NM_000441:c.211A>G
chr7:107303787:A>G
NM_000441:p.Leu75Leu
NM_000441:c.225C>G
chr7:107303801:C>G
NM_000441:p.Pro76Ser
NM_000441:c.226C>T
chr7:107303802:C>T
NM_000441:p.Pro76Leu
NM_000441:c.227C>T
chr7:107303803:C>T
NM_000441:p.Lys77Gln
NM_000441:c.229A>C
chr7:107303805:A>C
NM_000441:p.Lys77Ile
NM_000441:c.230A>T
chr7:107303806:A>T
NM_000441:p.Tyr78His
NM_000441:c.232T>C
chr7:107303808:T>C
NM_000441:p.Tyr78Cys
NM_000441:c.233A>G
chr7:107303809:A>G
NM_000441:p.Arg79Stop
NM_000441:c.235C>T
chr7:107303811:C>T
NM_000441:p.Arg79Gln
NM_000441:c.236G>A
chr7:107303812:G>A
NM_000441:p.Ser86Asn
NM_000441:c.257G>A
chr7:107303833:G>A
NM_000441:p.Ser86Ser
NM_000441:c.258T>C
chr7:107303834:T>C
NM_000441:p.Asp87Tyr
NM_000441:c.259G>T
chr7:107303835:G>T
NM_000441:p.Asp87Gly
NM_000441:c.260A>G
chr7:107303836:A>G
NM_000441:p.Ser90Stop
NM_000441:c.269C>A
chr7:107303845:C>A
NM_000441:p.Ser90Leu
NM_000441:c.269C>T
chr7:107303845:C>T
NM_000441:p.Ser93Arg
NM_000441:c.279T>A
chr7:107303855:T>A
NM_000441:p.Thr94Ile
NM_000441:c.281C>T
chr7:107303857:C>T
NM_000441:p.Gly95Arg
NM_000441:c.283G>A
chr7:107303859:G>A
NM_000441:p.Val97Leu
NM_000441:c.289G>T
chr7:107303865:G>T
NM_000441:c.294_298delCACGC
chr7:107303870:CACGC>-
NM_000441:p.Thr99Arg
NM_000441:c.296C>G
chr7:107303872:C>G
NM_000441:p.Thr99Met
NM_000441:c.296C>T
chr7:107303872:C>T
NM_000441:c.304+10T>C
chr7:107303890:T>C
NM_000441:c.305-19A>C
chr7:107312564:A>C
NM_000441:p.Ala104Val
NM_000441:c.311C>T
chr7:107312589:C>T
NM_000441:p.Tyr105Cys
NM_000441:c.314A>G
chr7:107312592:A>G
NM_000441:p.Ala106Asp
NM_000441:c.317C>A
chr7:107312595:C>A
NM_000441:p.Leu108Leu
NM_000441:c.322C>T
chr7:107312600:C>T
NM_000441:p.Pro112Ser
NM_000441:c.334C>T
chr7:107312612:C>T
NM_000441:p.Gly114Arg
NM_000441:c.340G>A
chr7:107312618:G>A
NM_000441:p.Leu117Phe
NM_000441:c.349C>T
chr7:107312627:C>T
NM_000441:p.Pro123Ser
NM_000441:c.367C>T
chr7:107312645:C>T
NM_000441:p.Ile124Asn
NM_000441:c.371T>A
chr7:107312649:T>A
NM_000441:p.Thr132Ile
NM_000441:c.395C>T
chr7:107312673:C>T
NM_000441:p.Ser133Thr
NM_000441:c.397T>A
chr7:107312675:T>A
NM_000441:c.397_398delTC
chr7:107312675:TC>-
NM_000441:p.Ser133Stop
NM_000441:c.398C>A
chr7:107312676:C>A
NM_000441:p.His135Arg
NM_000441:c.404A>G
chr7:107312682:A>G
NM_000441:p.Ser137Pro
NM_000441:c.409T>C
chr7:107312687:T>C
NM_000441:p.Val138Leu
NM_000441:c.412G>C
chr7:107312690:G>C
NM_000441:p.Val138Phe
NM_000441:c.412G>T
chr7:107312690:G>T
NM_000441:c.415+4A>G
chr7:107312697:A>G
NM_000441:c.415+10A>G
chr7:107312703:A>G
NM_000441:c.416-16G>T
chr7:107314593:G>T
NM_000441:c.416-13T>C
chr7:107314596:T>C
NM_000441:c.416-7T>C
chr7:107314602:T>C
NM_000441:p.Gly139Ala
NM_000441:c.416G>C
chr7:107314609:G>C
NM_000441:p.Gly139Val
NM_000441:c.416G>T
chr7:107314609:G>T
NM_000441:p.Pro140His
NM_000441:c.419C>A
chr7:107314612:C>A
NM_000441:p.Pro142Arg
NM_000441:c.425C>G
chr7:107314618:C>G
NM_000441:p.Met147Val
NM_000441:c.439A>G
chr7:107314632:A>G
NM_000441:p.Met147Thr
NM_000441:c.440T>C
chr7:107314633:T>C
NM_000441:p.Met147Ile
NM_000441:c.441G>A
chr7:107314634:G>A
NM_000441:p.Met155Val
NM_000441:c.463A>G
chr7:107314656:A>G
NM_000441:p.Asp158Asn
NM_000441:c.472G>A
chr7:107314665:G>A
NM_000441:p.Leu162Leu
NM_000441:c.486C>G
chr7:107314679:C>G
NM_000441:p.Val163Leu
NM_000441:c.487G>C
chr7:107314680:G>C
NM_000441:p.Ser166Asn
NM_000441:c.497G>A
chr7:107314690:G>A
NM_000441:p.Leu171Ser
NM_000441:c.512T>C
chr7:107314705:T>C
NM_000441:p.Met175Val
NM_000441:c.523A>G
chr7:107314716:A>G
NM_000441:p.Ile176Thr
NM_000441:c.527T>C
chr7:107314720:T>C
NM_000441:p.Thr178Pro
NM_000441:c.532A>C
chr7:107314725:A>C
NM_000441:p.Ala179Thr
NM_000441:c.535G>A
chr7:107314728:G>A
NM_000441:p.Asp182Val
NM_000441:c.545A>T
chr7:107314738:A>T
NM_000441:p.Ala189Ser
NM_000441:c.565G>T
chr7:107314758:G>T
NM_000441:p.Ala191Val
NM_000441:c.572C>T
chr7:107314765:C>T
NM_000441:p.Leu192Leu
NM_000441:c.574C>T
chr7:107314767:C>T
NM_000441:p.Thr193Ile
NM_000441:c.578C>T
chr7:107314771:C>T
NM_000441:p.Gly197Arg
NM_000441:c.589G>A
chr7:107314782:G>A
NM_000441:p.Ile199Thr
NM_000441:c.596T>C
chr7:107314789:T>C
NM_000441:c.600+1G>T
chr7:107314794:G>T
NM_000441:c.601-17C>T
chr7:107315373:C>T
NM_000441:c.601-4G>A
chr7:107315386:G>A
NM_000441:p.Gly204Val
NM_000441:c.611G>T
chr7:107315400:G>T
NM_000441:p.Gly209Glu
NM_000441:c.626G>A
chr7:107315415:G>A
NM_000441:p.Gly209Val
NM_000441:c.626G>T
chr7:107315415:G>T
NM_000441:p.Val220Ala
NM_000441:c.659T>C
chr7:107315448:T>C
NM_000441:p.Gly222Val
NM_000441:c.665G>T
chr7:107315454:G>T
NM_000441:p.Ala227Pro
NM_000441:c.679G>C
chr7:107315468:G>C
NM_000441:p.Val231Met
NM_000441:c.691G>A
chr7:107315480:G>A
NM_000441:p.Val233Leu
NM_000441:c.697G>C
chr7:107315486:G>C
NM_000441:p.Leu236Val
NM_000441:c.706C>G
chr7:107315495:C>G
NM_000441:p.Leu236Pro
NM_000441:c.707T>C
chr7:107315496:T>C
NM_000441:p.Val239Asp
NM_000441:c.716T>A
chr7:107315505:T>A
NM_000441:p.Asn246Tyr
NM_000441:c.736A>T
chr7:107315525:A>T
NM_000441:p.Val250Ala
NM_000441:c.749T>C
chr7:107315538:T>C
NM_000441:p.Leu251Leu
NM_000441:c.753C>G
chr7:107315542:C>G
NM_000441:p.Ser252Pro
NM_000441:c.754T>C
chr7:107315543:T>C
NM_000441:p.Ser252Phe
NM_000441:c.755C>T
chr7:107315544:C>T
NM_000441:p.Tyr255Tyr
NM_000441:c.765T>C
chr7:107315554:T>C
NM_000441:c.765+14C>T
chr7:107315568:C>T
NM_000441:p.Thr256Met
NM_000441:c.767C>T
chr7:107323648:C>T
NM_000441:p.Glu259Asp
NM_000441:c.777G>T
chr7:107323658:G>T
NM_000441:p.Asp266Asn
NM_000441:c.796G>A
chr7:107323677:G>A
NM_000441:p.Asn268Ser
NM_000441:c.803A>G
chr7:107323684:A>G
NM_000441:p.Asp271His
NM_000441:c.811G>C
chr7:107323692:G>C
NM_000441:p.Asp271Gly
NM_000441:c.812A>G
chr7:107323693:A>G
NM_000441:p.Leu277Leu
NM_000441:c.831C>A
chr7:107323712:C>A
NM_000441:p.Val280Ile
NM_000441:c.838G>A
chr7:107323719:G>A
NM_000441:p.Val281Ile
NM_000441:c.841G>A
chr7:107323722:G>A
NM_000441:p.Cys282Tyr
NM_000441:c.845G>A
chr7:107323726:G>A
NM_000441:p.Met283Ile
NM_000441:c.849G>C
chr7:107323730:G>C
NM_000441:p.Arg291Gln
NM_000441:c.872G>A
chr7:107323753:G>A
NM_000441:p.Ile300Leu
NM_000441:c.898A>C
chr7:107323779:A>C
NM_000441:p.Pro301Leu
NM_000441:c.902C>T
chr7:107323783:C>T
NM_000441:p.Glu303Gln
NM_000441:c.907G>C
chr7:107323788:G>C
NM_000441:p.Val306Val
NM_000441:c.918G>A
chr7:107323799:G>A
NM_000441:c.918+1G>T
chr7:107323800:G>T
NM_000441:c.919-2A>G
chr7:107323898:A>G
NM_000441:p.Thr307Met
NM_000441:c.920C>T
chr7:107323901:C>T
NM_000441:p.Ser314Stop
NM_000441:c.941C>A
chr7:107323922:C>A
NM_000441:p.Gly316Stop
NM_000441:c.946G>T
chr7:107323927:G>T
NM_000441:p.Asn322Asp
NM_000441:c.964A>G
chr7:107323945:A>G
NM_000441:p.Asn324Tyr
NM_000441:c.970A>T
chr7:107323951:A>T
NM_000441:p.Gly334Glu
NM_000441:c.1001G>A
chr7:107323982:G>A
NM_000441:p.Gly334Val
NM_000441:c.1001G>T
chr7:107323982:G>T
NM_000441:c.1001+1G>A
chr7:107323983:G>A
NM_000441:c.1002-9A>C
chr7:107329489:A>C
NM_000441:p.Phe335Leu
NM_000441:c.1003T>C
chr7:107329499:T>C
NM_000441:p.Phe335Ser
NM_000441:c.1004T>C
chr7:107329500:T>C
NM_000441:p.Pro342Leu
NM_000441:c.1025C>T
chr7:107329521:C>T
NM_000441:p.Leu345Phe
NM_000441:c.1035G>C
chr7:107329531:G>C
NM_000441:p.Ser347Leu
NM_000441:c.1040C>T
chr7:107329536:C>T
NM_000441:p.Ser347Ser
NM_000441:c.1041G>A
chr7:107329537:G>A
NM_000441:p.Met349Ile
NM_000441:c.1047G>A
chr7:107329543:G>A
NM_000441:p.Phe354Ser
NM_000441:c.1061T>C
chr7:107329557:T>C
NM_000441:p.Ala357Thr
NM_000441:c.1069G>A
chr7:107329565:G>A
NM_000441:p.Ala360Val
NM_000441:c.1079C>T
chr7:107329575:C>T
NM_000441:p.Ile363Val
NM_000441:c.1087A>G
chr7:107329583:A>G
NM_000441:p.Lys369Glu
NM_000441:c.1105A>G
chr7:107329601:A>G
NM_000441:p.Tyr371Tyr
NM_000441:c.1113T>C
chr7:107329609:T>C
NM_000441:p.Ala372Val
NM_000441:c.1115C>T
chr7:107329611:C>T
NM_000441:p.Lys374Arg
NM_000441:c.1121A>G
chr7:107329617:A>G
NM_000441:p.Tyr375Cys
NM_000441:c.1124A>G
chr7:107329620:A>G
NM_000441:p.Gly381Gly
NM_000441:c.1143G>A
chr7:107329639:G>A
NM_000441:c.1149+3A>G
chr7:107329648:A>G
NM_000441:p.Glu384Gly
NM_000441:c.1151A>G
chr7:107330570:A>G
NM_000441:p.Ala387Val
NM_000441:c.1160C>T
chr7:107330579:C>T
NM_000441:p.Ser391Asn
NM_000441:c.1172G>A
chr7:107330591:G>A
NM_000441:p.Ser391Arg
NM_000441:c.1173C>A
chr7:107330592:C>A
NM_000441:p.Asn392Tyr
NM_000441:c.1174A>T
chr7:107330593:A>T
NM_000441:p.Asn392Ser
NM_000441:c.1175A>G
chr7:107330594:A>G
NM_000441:p.Ser395Ser
NM_000441:c.1185A>C
chr7:107330604:A>C
NM_000441:p.Ser399Pro
NM_000441:c.1195T>C
chr7:107330614:T>C
NM_000441:p.Val402Met
NM_000441:c.1204G>A
chr7:107330623:G>A
NM_000441:p.Arg409Cys
NM_000441:c.1225C>T
chr7:107330644:C>T
NM_000441:p.Arg409His
NM_000441:c.1226G>A
chr7:107330645:G>A
NM_000441:p.Arg409Pro
NM_000441:c.1226G>C
chr7:107330645:G>C
NM_000441:p.Thr410Met
NM_000441:c.1229C>T
chr7:107330648:C>T
NM_000441:p.Thr410Thr
NM_000441:c.1230G>T
chr7:107330649:G>T
NM_000441:p.Ala411Thr
NM_000441:c.1231G>A
chr7:107330650:G>A
NM_000441:p.Ala411Pro
NM_000441:c.1231G>C
chr7:107330650:G>C
NM_000441:p.Val412Ile
NM_000441:c.1234G>A
chr7:107330653:G>A
NM_000441:p.Gln413Pro
NM_000441:c.1238A>C
chr7:107330657:A>C
NM_000441:p.Gln413Arg
NM_000441:c.1238A>G
chr7:107330657:A>G
NM_000441:p.Glu414Lys
NM_000441:c.1240G>A
chr7:107330659:G>A
NM_000441:p.Ser415Gly
NM_000441:c.1243A>G
chr7:107330662:A>G
NM_000441:p.Ser415Arg
NM_000441:c.1245C>A
chr7:107330664:C>A
NM_000441:p.Thr416Pro
NM_000441:c.1246A>C
chr7:107330665:A>C
NM_000441:p.Thr420Ile
NM_000441:c.1259C>T
chr7:107330678:C>T
NM_000441:p.Gln421Pro
NM_000441:c.1262A>C
chr7:107330681:A>C
NM_000441:p.Gln421Arg
NM_000441:c.1262A>G
chr7:107330681:A>G
NM_000441:p.Gln421Leu
NM_000441:c.1262A>T
chr7:107330681:A>T
NM_000441:c.1264-1G>C
chr7:107334847:G>C
NM_000441:p.Val422Asp
NM_000441:c.1265T>A
chr7:107334849:T>A
NM_000441:p.Gly424Asp
NM_000441:c.1271G>A
chr7:107334855:G>A
NM_000441:p.Ile426Thr
NM_000441:c.1277T>C
chr7:107334861:T>C
NM_000441:c.1281_1283delTGC
chr7:107334865:TGC>-
NM_000441:c.1308_1313delTGCCCT
chr7:107334892:TGCCCT>-
NM_000441:p.Gly439Arg
NM_000441:c.1315G>A
chr7:107334899:G>A
NM_000441:p.Lys440Stop
NM_000441:c.1318A>T
chr7:107334902:A>T
NM_000441:p.Leu441Pro
NM_000441:c.1322T>C
chr7:107334906:T>C
NM_000441:p.Glu443Gln
NM_000441:c.1327G>C
chr7:107334911:G>C
NM_000441:p.Leu445Trp
NM_000441:c.1334T>G
chr7:107334918:T>G
NM_000441:p.Gln446Stop
NM_000441:c.1336C>T
chr7:107334920:C>T
NM_000441:p.Gln446Arg
NM_000441:c.1337A>G
chr7:107334921:A>G
NM_000441:c.1341delG
chr7:107334925:G>-
NM_000441:c.1341+1G>C
chr7:107334926:G>C
NM_000441:p.Ser448Stop
NM_000441:c.1343C>A
chr7:107335067:C>A
NM_000441:p.Ser448Leu
NM_000441:c.1343C>T
chr7:107335067:C>T
NM_000441:p.Ile455Phe
NM_000441:c.1363A>T
chr7:107335087:A>T
NM_000441:p.Asn457Lys
NM_000441:c.1371C>A
chr7:107335095:C>A
NM_000441:p.Arg470Cys
NM_000441:c.1408C>T
chr7:107335132:C>T
NM_000441:p.Arg470His
NM_000441:c.1409G>A
chr7:107335133:G>A
NM_000441:p.Trp472Arg
NM_000441:c.1414T>C
chr7:107335138:T>C
NM_000441:c.1438-14A>G
chr7:107336364:A>G
NM_000441:p.Val480Asp
NM_000441:c.1439T>A
chr7:107336379:T>A
NM_000441:p.Thr485Arg
NM_000441:c.1454C>G
chr7:107336394:C>G
NM_000441:p.Thr485Met
NM_000441:c.1454C>T
chr7:107336394:C>T
NM_000441:p.Ile490Leu
NM_000441:c.1468A>C
chr7:107336408:A>C
NM_000441:p.Ile490Ile
NM_000441:c.1470C>T
chr7:107336410:C>T
NM_000441:p.Ile491Thr
NM_000441:c.1472T>C
chr7:107336412:T>C
NM_000441:p.Leu496Leu
NM_000441:c.1488C>T
chr7:107336428:C>T
NM_000441:p.Gly497Ser
NM_000441:c.1489G>A
chr7:107336429:G>A
NM_000441:p.Gly497Arg
NM_000441:c.1489G>C
chr7:107336429:G>C
NM_000441:p.Gly497Gly
NM_000441:c.1491T>C
chr7:107336431:T>C
NM_000441:p.Thr508Asn
NM_000441:c.1523C>A
chr7:107336463:C>A
NM_000441:p.Gln514Lys
NM_000441:c.1540C>A
chr7:107336480:C>A
NM_000441:p.Gln514Stop
NM_000441:c.1540C>T
chr7:107336480:C>T
NM_000441:p.Gln514Arg
NM_000441:c.1541A>G
chr7:107336481:A>G
NM_000441:p.Leu515Ser
NM_000441:c.1544T>C
chr7:107336484:T>C
NM_000441:c.1544+9C>T
chr7:107336493:C>T
NM_000441:c.1544+19A>G
chr7:107336503:A>G
NM_000441:c.1545-15_1545-13delTAT
chr7:107338472:TAT>-
NM_000441:c.1545-12T>C
chr7:107338475:T>C
NM_000441:c.1545-5T>G
chr7:107338482:T>G
NM_000441:p.Trp518Stop
NM_000441:c.1554G>A
chr7:107338496:G>A
NM_000441:p.Thr527Pro
NM_000441:c.1579A>C
chr7:107338521:A>C
NM_000441:p.Ile529Ser
NM_000441:c.1586T>G
chr7:107338528:T>G
NM_000441:p.Tyr530His
NM_000441:c.1588T>C
chr7:107338530:T>C
NM_000441:p.Tyr530Ser
NM_000441:c.1589A>C
chr7:107338531:A>C
NM_000441:p.Lys531Thr
NM_000441:c.1592A>C
chr7:107338534:A>C
NM_000441:p.Ser532Arg
NM_000441:c.1594A>C
chr7:107338536:A>C
NM_000441:p.Ser532Ile
NM_000441:c.1595G>T
chr7:107338537:G>T
NM_000441:p.Lys534Lys
NM_000441:c.1602G>A
chr7:107338544:G>A
NM_000441:p.Tyr536Tyr
NM_000441:c.1608C>T
chr7:107338550:C>T
NM_000441:p.Asn538Asn
NM_000441:c.1614C>T
chr7:107338556:C>T
NM_000441:c.1614+1G>A
chr7:107338557:G>A
NM_000441:c.1614+7A>G
chr7:107338563:A>G
NM_000441:c.1614+8C>T
chr7:107338564:C>T
NM_000441:c.1614+15G>A
chr7:107338571:G>A
NM_000441:c.1614+16A>G
chr7:107338572:A>G
NM_000441:p.Ile539Thr
NM_000441:c.1616T>C
chr7:107340529:T>C
NM_000441:p.Pro542Arg
NM_000441:c.1625C>G
chr7:107340538:C>G
NM_000441:p.Val545Glu
NM_000441:c.1634T>A
chr7:107340547:T>A
NM_000441:p.Val545Ala
NM_000441:c.1634T>C
chr7:107340547:T>C
NM_000441:p.Phe550Tyr
NM_000441:c.1649T>A
chr7:107340562:T>A
NM_000441:p.Ser552Ile
NM_000441:c.1655G>T
chr7:107340568:G>T
NM_000441:p.Tyr556His
NM_000441:c.1666T>C
chr7:107340579:T>C
NM_000441:p.Tyr556Cys
NM_000441:c.1667A>G
chr7:107340580:A>G
NM_000441:p.Asn558Ile
NM_000441:c.1673A>T
chr7:107340586:A>T
NM_000441:p.Asn558Lys
NM_000441:c.1674T>G
chr7:107340587:T>G
NM_000441:p.Cys565Arg
NM_000441:c.1693T>C
chr7:107340606:T>C
NM_000441:p.Cys565Tyr
NM_000441:c.1694G>A
chr7:107340607:G>A
NM_000441:p.Ile566Met
NM_000441:c.1698C>G
chr7:107340611:C>G
NM_000441:c.1707+5G>A
chr7:107340625:G>A
NM_000441:c.1708-18T>A
chr7:107341528:T>A
NM_000441:p.Phe572Leu
NM_000441:c.1716T>A
chr7:107341554:T>A
NM_000441:p.Asp573Tyr
NM_000441:c.1717G>T
chr7:107341555:G>T
NM_000441:p.Val577Ala
NM_000441:c.1730T>C
chr7:107341568:T>C
NM_000441:p.Arg581Arg
NM_000441:c.1743G>A
chr7:107341581:G>A
NM_000441:p.Arg581Ser
NM_000441:c.1743G>C
chr7:107341581:G>C
NM_000441:p.Gln596Stop
NM_000441:c.1786C>T
chr7:107341624:C>T
NM_000441:p.Leu597Ser
NM_000441:c.1790T>C
chr7:107341628:T>C
NM_000441:p.Ala599Val
NM_000441:c.1796C>T
chr7:107341634:C>T
NM_000441:p.Val609Gly
NM_000441:c.1826T>G
chr7:107342294:T>G
NM_000441:p.Val609Val
NM_000441:c.1827T>G
chr7:107342295:T>G
NM_000441:p.Ser610Stop
NM_000441:c.1829C>A
chr7:107342297:C>A
NM_000441:p.Glu622Lys
NM_000441:c.1864G>A
chr7:107342332:G>A
NM_000441:p.Glu622Ala
NM_000441:c.1865A>C
chr7:107342333:A>C
NM_000441:p.Leu624Val
NM_000441:c.1870C>G
chr7:107342338:C>G
NM_000441:p.Glu625Stop
NM_000441:c.1873G>T
chr7:107342341:G>T
NM_000441:p.Leu627Arg
NM_000441:c.1880T>G
chr7:107342348:T>G
NM_000441:p.Thr631Ile
NM_000441:c.1892C>T
chr7:107342360:C>T
NM_000441:p.Ile634Thr
NM_000441:c.1901T>C
chr7:107342369:T>C
NM_000441:p.Gln637Lys
NM_000441:c.1909C>A
chr7:107342377:C>A
NM_000441:p.Trp640Arg
NM_000441:c.1918T>C
chr7:107342386:T>C
NM_000441:p.Trp640Cys
NM_000441:c.1920G>C
chr7:107342388:G>C
NM_000441:p.Val650Ile
NM_000441:c.1948G>A
chr7:107342416:G>A
NM_000441:p.Val653Ala
NM_000441:c.1958T>C
chr7:107342426:T>C
NM_000441:p.Ile655Ile
NM_000441:c.1965C>T
chr7:107342433:C>T
NM_000441:p.Ser657Asn
NM_000441:c.1970G>A
chr7:107342438:G>A
NM_000441:p.Val659Leu
NM_000441:c.1975G>C
chr7:107342443:G>C
NM_000441:p.Leu660Arg
NM_000441:c.1979T>G
chr7:107342447:T>G
NM_000441:p.Asp661Glu
NM_000441:c.1983C>A
chr7:107342451:C>A
NM_000441:p.Cys662Tyr
NM_000441:c.1985G>A
chr7:107342453:G>A
NM_000441:p.Ala664Val
NM_000441:c.1991C>T
chr7:107342459:C>T
NM_000441:p.Ile665Val
NM_000441:c.1993A>G
chr7:107342461:A>G
NM_000441:p.Ile665Ile
NM_000441:c.1995A>C
chr7:107342463:A>C
NM_000441:p.Ser666Phe
NM_000441:c.1997C>T
chr7:107342465:C>T
NM_000441:p.Phe667Cys
NM_000441:c.2000T>G
chr7:107342468:T>G
NM_000441:p.Asp669Asn
NM_000441:c.2005G>A
chr7:107342473:G>A
NM_000441:p.Asp669Val
NM_000441:c.2006A>T
chr7:107342474:A>T
NM_000441:p.Val670Ile
NM_000441:c.2008G>A
chr7:107342476:G>A
NM_000441:p.Val670Ala
NM_000441:c.2009T>C
chr7:107342477:T>C
NM_000441:p.Gly672Arg
NM_000441:c.2014G>A
chr7:107342482:G>A
NM_000441:p.Gly672Glu
NM_000441:c.2015G>A
chr7:107342483:G>A
NM_000441:p.Val673Met
NM_000441:c.2017G>A
chr7:107342485:G>A
NM_000441:p.Leu676Gln
NM_000441:c.2027T>A
chr7:107342495:T>A
NM_000441:p.Phe683Ser
NM_000441:c.2048T>C
chr7:107344789:T>C
NM_000441:p.Phe683Phe
NM_000441:c.2049C>T
chr7:107344790:C>T
NM_000441:p.Arg685Ile
NM_000441:c.2054G>T
chr7:107344795:G>T
NM_000441:p.Asp687Tyr
NM_000441:c.2059G>T
chr7:107344800:G>T
NM_000441:p.Val690Ala
NM_000441:c.2069T>C
chr7:107344810:T>C
NM_000441:p.Val690Val
NM_000441:c.2070G>A
chr7:107344811:G>A
NM_000441:p.Ser694Pro
NM_000441:c.2080T>C
chr7:107344821:T>C
NM_000441:c.2089+9A>G
chr7:107344839:A>G
NM_000441:c.2090-18T>A
chr7:107350481:T>A
NM_000441:p.Asp697Ala
NM_000441:c.2090A>C
chr7:107350499:A>C
NM_000441:p.Glu704Gln
NM_000441:c.2110G>C
chr7:107350519:G>C
NM_000441:p.Cys706Stop
NM_000441:c.2118C>A
chr7:107350527:C>A
NM_000441:p.Gly707Arg
NM_000441:c.2119G>A
chr7:107350528:G>A
NM_000441:p.Asp710Asp
NM_000441:c.2130C>T
chr7:107350539:C>T
NM_000441:p.Asp711Tyr
NM_000441:c.2131G>T
chr7:107350540:G>T
NM_000441:p.Ile713Val
NM_000441:c.2137A>G
chr7:107350546:A>G
NM_000441:p.Ile713Met
NM_000441:c.2139T>G
chr7:107350548:T>G
NM_000441:p.Arg714Lys
NM_000441:c.2141G>A
chr7:107350550:G>A
NM_000441:p.Lys715Asn
NM_000441:c.2145G>T
chr7:107350554:G>T
NM_000441:p.Thr717Arg
NM_000441:c.2150C>G
chr7:107350559:C>G
NM_000441:p.Thr717Thr
NM_000441:c.2151A>C
chr7:107350560:A>C
NM_000441:p.Phe718Ser
NM_000441:c.2153T>C
chr7:107350562:T>C
NM_000441:p.Leu720Phe
NM_000441:c.2160G>C
chr7:107350569:G>C
NM_000441:p.Thr721Met
NM_000441:c.2162C>T
chr7:107350571:C>T
NM_000441:p.Thr721Thr
NM_000441:c.2163G>C
chr7:107350572:G>C
NM_000441:p.His723Asp
NM_000441:c.2167C>G
chr7:107350576:C>G
NM_000441:p.His723Arg
NM_000441:c.2168A>G
chr7:107350577:A>G
NM_000441:p.Asp724Asn
NM_000441:c.2170G>A
chr7:107350579:G>A
NM_000441:p.Asp724Gly
NM_000441:c.2171A>G
chr7:107350580:A>G
NM_000441:p.Ile726Val
NM_000441:c.2176A>G
chr7:107350585:A>G
NM_000441:p.Tyr728His
NM_000441:c.2182T>C
chr7:107350591:T>C
NM_000441:p.Gln730His
NM_000441:c.2190G>T
chr7:107350599:G>T
NM_000441:p.Glu737Asp
NM_000441:c.2211G>C
chr7:107350620:G>C
NM_000441:p.Gly738Ser
NM_000441:c.2212G>A
chr7:107350621:G>A
NM_000441:p.Gly738Cys
NM_000441:c.2212G>T
chr7:107350621:G>T
NM_000441:p.Gly740Ser
NM_000441:c.2218G>A
chr7:107350627:G>A
NM_000441:p.Gly740Ala
NM_000441:c.2219G>C
chr7:107350628:G>C
NM_000441:p.Gly740Val
NM_000441:c.2219G>T
chr7:107350628:G>T
NM_000441:p.Leu743Stop
NM_000441:c.2228T>A
chr7:107350637:T>A
NM_000441:p.Thr745Met
NM_000441:c.2234C>T
chr7:107350643:C>T
NM_000441:c.2236-15G>A
chr7:107352969:G>A
NM_000441:c.2236-3A>G
chr7:107352981:A>G
NM_000441:p.Thr747Ile
NM_000441:c.2240C>T
chr7:107352988:C>T
NM_000441:p.Leu756Pro
NM_000441:c.2267T>C
chr7:107353015:T>C
NM_000441:p.Thr761Thr
NM_000441:c.2283A>G
chr7:107353031:A>G
NM_000441:p.Thr764Met
NM_000441:c.2291C>T
chr7:107353039:C>T
NM_000441:p.Thr764Thr
NM_000441:c.2292G>A
chr7:107353040:G>A
NM_000441:p.Leu768Phe
NM_000441:c.2302C>T
chr7:107353050:C>T
NM_000441:c.2319+3A>G
chr7:107353070:A>G
NM_000441:c.2320-5C>G
chr7:107355863:C>G
NM_000441:p.Met775Thr
NM_000441:c.2324T>C
chr7:107355872:T>C
NM_000441:p.Arg776Cys
NM_000441:c.2326C>T
chr7:107355874:C>T
NM_000441:p.Ser780Phe
NM_000441:c.2339C>T
chr7:107355887:C>T
NM_000441:p.Stop781Trp
NM_000441:c.2343A>G
chr7:107355891:A>G
NM_000441:c.*11G>A
chr7:107355902:G>A
NM_206883:p.Gln684Stop
NM_206883:c.2050C>T
chr7:102993365:G>A
NM_206884:p.His507Tyr
NM_206884:c.1519C>T
chr7:102993369:G>A
NM_198999:p.Thr738Thr
NM_198999:c.2214T>C
chr7:103014867:A>G
NM_198999:c.2214A>G
chr7:103014867:T>C
NM_198999:p.Thr738Pro
NM_198999:c.2212A>C
chr7:103014869:T>G
NM_198999:p.Ala726Val
NM_198999:c.2177C>T
chr7:103014904:G>A
NM_198999:p.Ser725Ser
NM_198999:c.2175G>A
chr7:103014906:C>T
NM_198999:p.Glu723Gly
NM_198999:c.2168A>G
chr7:103014913:T>C
NM_198999:p.Glu721Asp
NM_198999:c.2163A>T
chr7:103014918:T>A
NM_198999:p.Ala709Ser
NM_198999:c.2125G>T
chr7:103014956:C>A
NM_198999:p.Asp708Asn
NM_198999:c.2122G>A
chr7:103014959:C>T
NM_198999:p.His707His
NM_198999:c.2121T>C
chr7:103014960:A>G
NM_198999:p.Arg689Arg
NM_198999:c.2067G>T
chr7:103015014:C>A
NM_198999:c.2067G>A
chr7:103015014:C>T
NM_198999:p.Arg689Gln
NM_198999:c.2066G>A
chr7:103015015:C>T
NM_198999:c.2042-5A>G
chr7:103015044:T>C
NM_198999:c.2041+19T>A
chr7:103017236:A>T
NM_198999:p.Ser680Gly
NM_198999:c.2038A>G
chr7:103017258:T>C
NM_198999:p.Tyr673Tyr
NM_198999:c.2019T>C
chr7:103017277:A>G
NM_198999:p.Val670Ile
NM_198999:c.2008G>A
chr7:103017288:C>T
NM_198999:p.Ile663Val
NM_198999:c.1987A>G
chr7:103017309:T>C
NM_198999:c.1987-3C>T
chr7:103017312:G>A
NM_198999:c.1986+18C>T
chr7:103018028:G>A
NM_198999:c.1986+9C>T
chr7:103018037:G>A
NM_198999:c.1986+6G>A
chr7:103018040:C>T
NM_198999:c.1986+6C>T
chr7:103018040:G>A
NM_198999:p.Gln648His
NM_198999:c.1944A>C
chr7:103018088:T>G
NM_198999:p.Thr647Ala
NM_198999:c.1939A>G
chr7:103018093:T>C
NM_198999:p.Val639Ile
NM_198999:c.1915G>A
chr7:103018117:C>T
NM_198999:p.Pro635Pro
NM_198999:c.1905A>G
chr7:103018127:T>C
NM_198999:p.Pro635Leu
NM_198999:c.1904C>T
chr7:103018128:G>A
NM_198999:p.Lys622Arg
NM_198999:c.1865A>G
chr7:103018167:T>C
NM_198999:p.Pro617Ser
NM_198999:c.1849C>T
chr7:103018183:G>A
NM_198999:p.Glu610Lys
NM_198999:c.1828G>A
chr7:103018204:C>T
NM_198999:p.Thr605Ala
NM_198999:c.1813A>G
chr7:103018219:T>C
NM_198999:p.Asn589Lys
NM_198999:c.1767C>G
chr7:103018911:G>C
NM_198999:p.Ala579Thr
NM_198999:c.1735G>A
chr7:103018943:C>T
NM_198999:p.Met568Thr
NM_198999:c.1703T>C
chr7:103018975:A>G
NM_198999:p.Ile567Val
NM_198999:c.1699A>G
chr7:103018979:T>C
NM_198999:p.Gly561Glu
NM_198999:c.1682G>A
chr7:103018996:C>T
NM_198999:p.Ser553Thr
NM_198999:c.1658G>C
chr7:103019709:C>G
NM_198999:p.Ile540Thr
NM_198999:c.1619T>C
chr7:103019748:A>G
NM_198999:p.Pro533Ala
NM_198999:c.1597C>G
chr7:103019770:G>C
NM_198999:p.Lys530Lys
NM_198999:c.1590A>G
chr7:103019777:T>C
NM_198999:p.Asp524Asp
NM_198999:c.1572C>T
chr7:103020939:G>A
NM_198999:c.1515-15A>G
chr7:103021011:T>C
NM_198999:p.Ile489Ser
NM_198999:c.1466T>G
chr7:103029503:A>C
NM_198999:p.Thr470Asn
NM_198999:c.1409C>A
chr7:103029560:G>T
NM_198999:c.1407+5G>A
chr7:103029771:C>T
NM_198999:p.Asn447Ser
NM_198999:c.1340A>G
chr7:103029843:T>C
NM_198999:p.Ile445Ile
NM_198999:c.1335T>C
chr7:103029848:A>G
NM_198999:p.Ile445Thr
NM_198999:c.1334T>C
chr7:103029849:A>G
NM_198999:p.Ala442Thr
NM_198999:c.1324G>A
chr7:103029859:C>T
NM_198999:p.Ser441Ser
NM_198999:c.1323G>A
chr7:103029860:C>T
NM_198999:c.1312-17G>T
chr7:103029888:C>A
NM_198999:c.1311+13T>C
chr7:103030863:A>G
NM_198999:p.Ser434Ser
NM_198999:c.1302A>G
chr7:103030885:T>C
NM_198999:p.Val424Leu
NM_198999:c.1270G>C
chr7:103030917:C>G
NM_198999:p.Cys415Phe
NM_198999:c.1244G>T
chr7:103030943:C>A
NM_198999:c.1233+14A>G
chr7:103032055:T>C
NM_198999:c.1233+9A>G
chr7:103032060:T>C
NM_198999:p.Gln411Stop
NM_198999:c.1231C>T
chr7:103032071:G>A
NM_198999:p.Gly407Ser
NM_198999:c.1219G>A
chr7:103032083:C>T
NM_198999:p.Thr406Thr
NM_198999:c.1218C>T
chr7:103032084:G>A
NM_198999:c.1120-9A>G
chr7:103032191:T>C
NM_198999:c.1119+1G>A
chr7:103033365:C>T
NM_198999:p.Thr354Thr
NM_198999:c.1062C>T
chr7:103033423:G>A
NM_198999:p.Phe351Leu
NM_198999:c.1053T>A
chr7:103033432:A>T
NM_198999:p.Gly350Gly
NM_198999:c.1050A>G
chr7:103033435:T>C
NM_198999:p.Ala345Ala
NM_198999:c.1035C>T
chr7:103033450:G>A
NM_198999:p.Val341Ile
NM_198999:c.1021G>A
chr7:103033464:C>T
NM_198999:p.Ile330Thr
NM_198999:c.989T>C
chr7:103033496:A>G
NM_198999:p.Asn330Ser
NM_198999:c.989A>G
chr7:103033496:T>C
NM_198999:p.Pro327Pro
NM_198999:c.981T>C
chr7:103033504:A>G
NM_198999:c.972-2A>G
chr7:103033515:T>C
NM_198999:c.972-10G>A
chr7:103033523:C>T
NM_198999:p.Val318Ile
NM_198999:c.952G>A
chr7:103038398:C>T
NM_198999:p.Asn314Asp
NM_198999:c.940A>G
chr7:103038410:T>C
NM_198999:p.Gly300Arg
NM_198999:c.898G>C
chr7:103038452:C>G
NM_198999:p.Val298Ile
NM_198999:c.892G>A
chr7:103038458:C>T
NM_198999:c.888+9C>T
chr7:103048289:G>A
NM_198999:p.Pro287Pro
NM_198999:c.861G>A
chr7:103048325:C>T
NM_198999:p.Pro287Ser
NM_198999:c.859C>T
chr7:103048327:G>A
NM_198999:p.Leu262Val
NM_198999:c.784C>G
chr7:103048402:G>C
NM_198999:p.Lys255Glu
NM_198999:c.763A>G
chr7:103048423:T>C
NM_198999:p.Val248Ile
NM_198999:c.742G>A
chr7:103048444:C>T
NM_198999:c.735+16C>T
chr7:103050816:G>A
NM_198999:c.735+9G>A
chr7:103050823:C>T
NM_198999:p.Val243Met
NM_198999:c.727G>A
chr7:103050840:C>T
NM_198999:p.Ser242Pro
NM_198999:c.724T>C
chr7:103050843:A>G
NM_198999:p.Thr242Ala
NM_198999:c.724A>G
chr7:103050843:T>C
NM_198999:p.Arg236Arg
NM_198999:c.708G>T
chr7:103050859:C>A
NM_198999:p.Thr223Ile
NM_198999:c.668C>T
chr7:103050899:G>A
NM_198999:p.Val221Val
NM_198999:c.663C>T
chr7:103050904:G>A
NM_198999:p.Thr215Thr
NM_198999:c.645C>T
chr7:103050922:G>A
NM_198999:p.Val195Val
NM_198999:c.585C>T
chr7:103050982:G>A
NM_198999:c.571-16C>T
chr7:103051012:G>A
NM_198999:c.570+16G>A
chr7:103051851:C>T
NM_198999:c.570+15T>A
chr7:103051852:A>T
NM_198999:c.570+6G>A
chr7:103051861:C>T
NM_198999:c.570+6C>T
chr7:103051861:G>A
NM_198999:c.570+3A>G
chr7:103051864:T>C
NM_198999:p.Ala173Gly
NM_198999:c.518C>G
chr7:103051919:G>C
NM_198999:p.Asn166Asn
NM_198999:c.498T>C
chr7:103051939:A>G
NM_198999:p.Thr165Ala
NM_198999:c.493A>G
chr7:103051944:T>C
NM_198999:p.Asp155Asp
NM_198999:c.465T>C
chr7:103051972:A>G
NM_198999:p.Arg150Gln
NM_198999:c.449G>A
chr7:103051988:C>T
NM_198999:p.Ile144Thr
NM_198999:c.431T>C
chr7:103052006:A>G
NM_198999:p.Gly135Asp
NM_198999:c.404G>A
chr7:103052033:C>T
NM_198999:c.403+15T>C
chr7:103053434:A>G
NM_198999:c.403+14T>C
chr7:103053435:A>G
NM_198999:p.Pro108Pro
NM_198999:c.324T>A
chr7:103053528:A>T
NM_198999:p.Gly98Val
NM_198999:c.293G>T
chr7:103053559:C>A
NM_198999:c.293-17G>T
chr7:103053576:C>A
NM_198999:c.292+5G>A
chr7:103061180:C>T
NM_198999:p.Tyr79Tyr
NM_198999:c.237T>C
chr7:103061240:A>G
NM_198999:p.Leu67Leu
NM_198999:c.199T>C
chr7:103061278:A>G
NM_198999:p.Ile67Val
NM_198999:c.199A>G
chr7:103061278:T>C
NM_198999:c.153-10G>A
chr7:103061334:C>T
NM_198999:c.152+4C>T
chr7:103061806:G>A
NM_198999:p.Thr51Met
NM_198999:c.152C>T
chr7:103061810:G>A
NM_198999:p.Lys47Asn
NM_198999:c.141A>T
chr7:103061821:T>A
NM_198999:p.Leu46Pro
NM_198999:c.137T>C
chr7:103061825:A>G
NM_198999:p.Ala43Val
NM_198999:c.128C>T
chr7:103061834:G>A
NM_198999:p.Ile42Leu
NM_198999:c.124A>C
chr7:103061838:T>G
NM_198999:p.Ser41Ser
NM_198999:c.123C>T
chr7:103061839:G>A
NM_198999:p.Lys35Arg
NM_198999:c.104A>G
chr7:103061858:T>C
NM_198999:p.Pro26Pro
NM_198999:c.78G>A
chr7:103061884:C>T
NM_198999:p.Ile22Thr
NM_198999:c.65T>C
chr7:103061897:A>G
NM_198999:p.Tyr16Cys
NM_198999:c.47A>G
chr7:103061915:T>C
NM_198999:c.-13A>C
chr7:103061974:T>G
NM_153700:c.5239+13C>A
chr15:43892145:G>T
NM_153700:p.Glu1744Glu
NM_153700:c.5232A>G
chr15:43892165:T>C
NM_153700:p.Trp1734Arg
NM_153700:c.5200T>C
chr15:43892197:A>G
NM_153700:p.Ala1731Thr
NM_153700:c.5191G>A
chr15:43892206:C>T
NM_153700:p.Arg1730Stop
NM_153700:c.5188C>T
chr15:43892209:G>A
NM_153700:p.Glu1727Gln
NM_153700:c.5179G>C
chr15:43892218:C>G
NM_153700:p.Leu1724Leu
NM_153700:c.5170C>T
chr15:43892227:G>A
NM_153700:p.Pro1718Ser
NM_153700:c.5152C>T
chr15:43892245:G>A
NM_153700:p.Thr1717Ile
NM_153700:c.5150C>T
chr15:43892247:G>A
NM_153700:c.5092-6C>A
chr15:43892311:G>T
NM_153700:c.4993+8G>C
chr15:43892724:C>G
NM_153700:p.Glu1655Ala
NM_153700:c.4964A>C
chr15:43892761:T>G
NM_153700:p.Gly1653Gly
NM_153700:c.4959G>A
chr15:43892766:C>T
NM_153700:p.Phe1646Ser
NM_153700:c.4937T>C
chr15:43892788:A>G
NM_153700:p.Leu1640Phe
NM_153700:c.4918C>T
chr15:43892807:G>A
NM_153700:p.Leu1639Leu
NM_153700:c.4917A>C
chr15:43892808:T>G
NM_153700:p.Val1635Phe
NM_153700:c.4903G>T
chr15:43892822:C>A
NM_153700:p.Glu1630Gln
NM_153700:c.4888G>C
chr15:43892837:C>G
NM_153700:p.Leu1626Leu
NM_153700:c.4878C>G
chr15:43892847:G>C
NM_153700:p.Leu1621Leu
NM_153700:c.4863C>G
chr15:43892862:G>C
NM_153700:p.Ser1615Ser
NM_153700:c.4845C>T
chr15:43892880:G>A
NM_153700:c.4845-3C>T
chr15:43892883:G>A
NM_153700:c.4845-13T>C
chr15:43892893:A>G
NM_153700:p.Phe1614Phe
NM_153700:c.4842C>T
chr15:43893072:G>A
NM_153700:p.Glu1604Gln
NM_153700:c.4810G>C
chr15:43893104:C>G
NM_153700:p.Arg1602Trp
NM_153700:c.4804C>T
chr15:43893110:G>A
NM_153700:p.Cys1599Cys
NM_153700:c.4797T>C
chr15:43893117:A>G
NM_153700:p.His1590His
NM_153700:c.4770T>C
chr15:43893144:A>G
NM_153700:p.Val1589Ile
NM_153700:c.4765G>A
chr15:43893149:C>T
NM_153700:p.His1582Tyr
NM_153700:c.4744C>T
chr15:43893170:G>A
NM_153700:p.Arg1581Trp
NM_153700:c.4741C>T
chr15:43893173:G>A
NM_153700:c.4701+15C>T
chr15:43893579:G>A
NM_153700:c.4701+12C>A
chr15:43893582:G>T
NM_153700:c.4701+9T>C
chr15:43893585:A>G
NM_153700:c.4701+4A>G
chr15:43893590:T>C
NM_153700:c.4701+1G>A
chr15:43893593:C>T
NM_153700:p.Thr1566Ile
NM_153700:c.4697C>T
chr15:43893598:G>A
NM_153700:p.Thr1565Ser
NM_153700:c.4693A>T
chr15:43893602:T>A
NM_153700:p.Thr1565Ala
NM_153700:c.4693A>G
chr15:43893602:T>C
NM_153700:p.Gly1562Asp
NM_153700:c.4685G>A
chr15:43893610:C>T
NM_153700:p.Asp1561Gly
NM_153700:c.4682A>G
chr15:43893613:T>C
NM_153700:p.Gln1559Stop
NM_153700:c.4675C>T
chr15:43893620:G>A
NM_153700:p.Gly1552Ala
NM_153700:c.4655G>C
chr15:43893640:C>G
NM_153700:p.Glu1542Glu
NM_153700:c.4626A>G
chr15:43893669:T>C
NM_153700:p.Arg1541Leu
NM_153700:c.4622G>T
chr15:43893673:C>A
NM_153700:p.Arg1541Gln
NM_153700:c.4622G>A
chr15:43893673:C>T
NM_153700:p.Leu1534Leu
NM_153700:c.4602C>G
chr15:43893693:G>C
NM_153700:p.Leu1531Leu
NM_153700:c.4593T>C
chr15:43893702:A>G
NM_153700:p.Arg1524Gly
NM_153700:c.4570C>G
chr15:43893725:G>C
NM_153700:p.Arg1521Arg
NM_153700:c.4563G>A
chr15:43893732:C>T
NM_153700:p.Arg1521Gln
NM_153700:c.4562G>A
chr15:43893733:C>T
NM_153700:p.Arg1521Trp
NM_153700:c.4561C>T
chr15:43893734:G>A
NM_153700:p.Leu1516Leu
NM_153700:c.4548G>A
chr15:43893747:C>T
NM_153700:c.4546-3T>C
chr15:43893752:A>G
NM_153700:c.4546-13G>C
chr15:43893762:C>G
NM_153700:c.4546-14T>C
chr15:43893763:A>G
NM_153700:c.4545+20C>A
chr15:43895420:G>T
NM_153700:p.Gly1511Arg
NM_153700:c.4531G>C
chr15:43895454:C>G
NM_153700:p.Met1510Thr
NM_153700:c.4529T>C
chr15:43895456:A>G
NM_153700:p.Ala1508Thr
NM_153700:c.4522G>A
chr15:43895463:C>T
NM_153700:p.Leu1506Leu
NM_153700:c.4518G>A
chr15:43895467:C>T
NM_153700:p.Asp1498Asp
NM_153700:c.4494C>T
chr15:43895491:G>A
NM_153700:p.Glu1489Ala
NM_153700:c.4466A>C
chr15:43895519:T>G
NM_153700:p.Asp1487His
NM_153700:c.4459G>C
chr15:43895526:C>G
NM_153700:p.Leu1485Phe
NM_153700:c.4453C>T
chr15:43895532:G>A
NM_153700:p.Met1483Arg
NM_153700:c.4448T>G
chr15:43895537:A>C
NM_153700:p.Gln1479Glu
NM_153700:c.4435C>G
chr15:43895550:G>C
NM_153700:p.Thr1478Ile
NM_153700:c.4433C>T
chr15:43895552:G>A
NM_153700:p.Thr1478Pro
NM_153700:c.4432A>C
chr15:43895553:T>G
NM_153700:p.Trp1475Leu
NM_153700:c.4424G>T
chr15:43895561:C>A
NM_153700:p.Pro1472Arg
NM_153700:c.4415C>G
chr15:43895570:G>C
NM_153700:p.Phe1471Phe
NM_153700:c.4413C>T
chr15:43895572:G>A
NM_153700:p.Arg1468Stop
NM_153700:c.4402C>T
chr15:43895583:G>A
NM_153700:p.Val1467Ile
NM_153700:c.4399G>A
chr15:43895586:C>T
NM_153700:p.Pro1460Leu
NM_153700:c.4379C>T
chr15:43895606:G>A
NM_153700:p.Glu1459Ala
NM_153700:c.4376A>C
chr15:43895609:T>G
NM_153700:c.4376-17C>G
chr15:43895626:G>C
NM_153700:c.4375+8T>C
chr15:43896186:A>G
NM_153700:p.Pro1458Pro
NM_153700:c.4374A>G
chr15:43896195:T>C
NM_153700:p.Ala1447Thr
NM_153700:c.4339G>A
chr15:43896230:C>T
NM_153700:p.Cys1433Tyr
NM_153700:c.4298G>A
chr15:43896271:C>T
NM_153700:p.Leu1432Leu
NM_153700:c.4294C>T
chr15:43896275:G>A
NM_153700:p.Ser1427Arg
NM_153700:c.4281C>G
chr15:43896288:G>C
NM_153700:p.Gln1421Gln
NM_153700:c.4263G>A
chr15:43896306:C>T
NM_153700:p.Lys1420Lys
NM_153700:c.4260G>A
chr15:43896309:C>T
NM_153700:p.Glu1407Asp
NM_153700:c.4221G>C
chr15:43896348:C>G
NM_153700:p.Glu1399Stop
NM_153700:c.4195G>T
chr15:43896582:C>A
NM_153700:p.Arg1391Gly
NM_153700:c.4171C>G
chr15:43896606:G>C
NM_153700:p.Val1386Ala
NM_153700:c.4157T>C
chr15:43896620:A>G
NM_153700:c.4127+8C>T
chr15:43896840:G>A
NM_153700:p.Leu1369Leu
NM_153700:c.4107A>G
chr15:43896868:T>C
NM_153700:p.Trp1367Cys
NM_153700:c.4101G>C
chr15:43896874:C>G
NM_153700:p.Thr1360Ala
NM_153700:c.4078A>G
chr15:43896897:T>C
NM_153700:p.Cys1356Stop
NM_153700:c.4068C>A
chr15:43896907:G>T
NM_153700:p.Gln1353Stop
NM_153700:c.4057C>T
chr15:43896918:G>A
NM_153700:p.Leu1345Leu
NM_153700:c.4035G>C
chr15:43896940:C>G
NM_153700:p.Gln1343Stop
NM_153700:c.4027C>T
chr15:43896948:G>A
NM_153700:p.Arg1338Gln
NM_153700:c.4013G>A
chr15:43896962:C>T
NM_153700:p.Arg1305Arg
NM_153700:c.3915G>A
chr15:43897477:C>T
NM_153700:p.His1298Arg
NM_153700:c.3893A>G
chr15:43897499:T>C
NM_153700:p.Ser1273Pro
NM_153700:c.3817T>C
chr15:43897575:A>G
NM_153700:p.Leu1272Leu
NM_153700:c.3814C>T
chr15:43897578:G>A
NM_153700:p.Asp1270Asn
NM_153700:c.3808G>A
chr15:43897584:C>T
NM_153700:p.Leu1268Leu
NM_153700:c.3802T>C
chr15:43897590:A>G
NM_153700:p.Arg1265Arg
NM_153700:c.3795G>A
chr15:43897597:C>T
NM_153700:c.3795-7G>A
chr15:43897604:C>T
NM_153700:c.3795-12T>C
chr15:43897609:A>G
NM_153700:p.Pro1265Leu
NM_153700:c.3794C>T
chr15:43900061:G>A
NM_153700:p.Met1239Lys
NM_153700:c.3716T>A
chr15:43900139:A>T
NM_153700:p.Arg1237Trp
NM_153700:c.3709C>T
chr15:43900146:G>A
NM_153700:p.Gln1236Arg
NM_153700:c.3707A>G
chr15:43900148:T>C
NM_153700:p.Glu1234Glu
NM_153700:c.3702G>A
chr15:43900153:C>T
NM_153700:p.Arg1228Arg
NM_153700:c.3684G>A
chr15:43900171:C>T
NM_153700:c.3681+10G>C
chr15:43900268:C>G
NM_153700:p.Leu1210Pro
NM_153700:c.3629T>C
chr15:43900330:A>G
NM_153700:c.3557+12G>A
chr15:43901462:C>T
NM_153700:p.Leu1185Leu
NM_153700:c.3555G>A
chr15:43901476:C>T
NM_153700:p.Leu1180Leu
NM_153700:c.3540T>G
chr15:43901491:A>C
NM_153700:c.3499-19G>A
chr15:43901551:C>T
NM_153700:c.3372+20A>T
chr15:43903097:T>A
NM_153700:p.Cys1120Cys
NM_153700:c.3360T>C
chr15:43903129:A>G
NM_153700:p.Pro1117Ser
NM_153700:c.3349C>T
chr15:43903140:G>A
NM_153700:p.Gly1116Arg
NM_153700:c.3346G>C
chr15:43903143:C>G
NM_153700:c.3307-15C>A
chr15:43903197:G>T
NM_153700:c.3307-15_3307-12delAC
chr15:43903197:GT>-
NM_153700:c.3307-16A>C
chr15:43903198:T>G
NM_153700:c.3307-17_3307-14delCA
chr15:43903199:TG>-
NM_153700:c.3307-18delC
chr15:43903200:G>-
NM_153700:p.Pro166Pro
NM_153700:c.498G>A
chr15:43910121:C>T
NM_153700:p.Pro166Leu
NM_153700:c.497C>T
chr15:43910122:G>A
NM_153700:p.Gly151Arg
NM_153700:c.451G>C
chr15:43910168:C>G
NM_153700:p.Val141Met
NM_153700:c.421G>A
chr15:43910198:C>T
NM_153700:p.Leu137Val
NM_153700:c.409C>G
chr15:43910210:G>C
NM_153700:p.Gly111Gly
NM_153700:c.333G>T
chr15:43910286:C>A
NM_153700:p.Phe60Ser
NM_153700:c.179T>C
chr15:43910440:A>G
© 2011–2013 The Molecular Otolaryngology and Renal Research Laboratory at The University of Iowa