ClinVar Miner

List of variants in gene PCNT reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1591
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464 0.00265
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006 0.00257
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr) rs143289533 0.00179
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00165
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172 0.00163
NM_006031.6(PCNT):c.724G>A (p.Val242Met) rs147931950 0.00115
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=) rs139227909 0.00096
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) rs140424584 0.00093
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229 0.00086
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846 0.00077
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555 0.00076
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644 0.00076
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu) rs776232288 0.00074
NM_006031.6(PCNT):c.1761+14C>T rs368329088 0.00073
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711 0.00066
NM_006031.6(PCNT):c.6151-9C>T rs200571944 0.00059
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00058
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463 0.00046
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His) rs200268000 0.00045
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774 0.00043
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824 0.00040
NM_006031.6(PCNT):c.6792G>A (p.Ala2264=) rs145376230 0.00040
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) rs201827977 0.00039
NM_006031.6(PCNT):c.7335G>A (p.Ala2445=) rs140044774 0.00039
NM_006031.6(PCNT):c.1761+13G>A rs368579694 0.00038
NM_006031.6(PCNT):c.8538G>A (p.Thr2846=) rs146053975 0.00038
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192 0.00036
NM_006031.6(PCNT):c.3840+19G>C rs377597505 0.00035
NM_006031.6(PCNT):c.9099+13C>T rs376185703 0.00035
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=) rs766460016 0.00034
NM_006031.6(PCNT):c.5997T>C (p.Gly1999=) rs146997824 0.00034
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) rs146875945 0.00031
NM_006031.6(PCNT):c.4962+7G>A rs369388260 0.00029
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=) rs140912550 0.00028
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729 0.00027
NM_006031.6(PCNT):c.9099+14G>A rs370266308 0.00027
NM_006031.6(PCNT):c.4564-15A>G rs201627129 0.00026
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=) rs370099497 0.00026
NM_006031.6(PCNT):c.2439C>T (p.Ser813=) rs144810300 0.00024
NM_006031.6(PCNT):c.5115+11A>G rs371474470 0.00024
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697 0.00023
NM_006031.6(PCNT):c.8996+12C>T rs369265202 0.00023
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642 0.00022
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577 0.00021
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=) rs192388432 0.00020
NM_006031.6(PCNT):c.2178C>T (p.Asp726=) rs148495760 0.00019
NM_006031.6(PCNT):c.4395G>A (p.Gln1465=) rs112911892 0.00019
NM_006031.6(PCNT):c.9138C>T (p.Asp3046=) rs141856476 0.00019
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=) rs144262961 0.00019
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006031.6(PCNT):c.5994+14G>C rs749371662 0.00017
NM_006031.6(PCNT):c.6150+3G>A rs760779996 0.00016
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849 0.00016
NM_006031.6(PCNT):c.7179+18G>A rs370492724 0.00016
NM_006031.6(PCNT):c.8130C>T (p.His2710=) rs373738288 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006031.6(PCNT):c.2559G>A (p.Ala853=) rs757405970 0.00015
NM_006031.6(PCNT):c.4216+9C>T rs369876466 0.00014
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) rs369038814 0.00014
NM_006031.6(PCNT):c.5661C>T (p.His1887=) rs145784615 0.00014
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=) rs370040791 0.00014
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774 0.00014
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202 0.00013
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) rs751932532 0.00013
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722 0.00013
NM_006031.6(PCNT):c.3363C>T (p.Ser1121=) rs141878320 0.00012
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=) rs141211481 0.00012
NM_006031.6(PCNT):c.4791+14A>G rs201124068 0.00012
NM_006031.6(PCNT):c.6885G>A (p.Pro2295=) rs752200836 0.00012
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=) rs138791485 0.00012
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231 0.00011
NM_006031.6(PCNT):c.2609+16C>T rs762049505 0.00011
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=) rs113763153 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006031.6(PCNT):c.5493G>A (p.Ala1831=) rs142278771 0.00011
NM_006031.6(PCNT):c.7755G>A (p.Leu2585=) rs144026961 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 0.00011
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=) rs753027643 0.00010
NM_006031.6(PCNT):c.977C>T (p.Ala326Val) rs181165794 0.00010
NM_006031.6(PCNT):c.1590T>C (p.Ala530=) rs200294006 0.00009
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu) rs745598788 0.00009
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=) rs142020803 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.5079C>T (p.Ser1693=) rs377039885 0.00009
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432 0.00009
NM_006031.6(PCNT):c.9099+8G>T rs369178196 0.00009
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) rs144651746 0.00009
NM_006031.6(PCNT):c.3144C>T (p.His1048=) rs139345424 0.00008
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=) rs755726044 0.00008
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=) rs144430478 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006031.6(PCNT):c.7179+17C>T rs774896211 0.00008
NM_006031.6(PCNT):c.721-5C>T rs144683591 0.00008
NM_006031.6(PCNT):c.8751+9C>T rs778311816 0.00008
NM_006031.6(PCNT):c.909G>A (p.Leu303=) rs759236031 0.00008
NM_006031.6(PCNT):c.1491T>G (p.Arg497=) rs750149641 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=) rs756904669 0.00007
NM_006031.6(PCNT):c.8955C>T (p.Ala2985=) rs368445228 0.00007
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839 0.00006
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408 0.00006
NM_006031.6(PCNT):c.4785G>A (p.Leu1595=) rs528306548 0.00006
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652 0.00006
NM_006031.6(PCNT):c.6150+8G>A rs894234623 0.00006
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) rs755119869 0.00006
NM_006031.6(PCNT):c.7302C>A (p.Leu2434=) rs369252735 0.00006
NM_006031.6(PCNT):c.8244G>A (p.Ala2748=) rs748701723 0.00006
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=) rs375869631 0.00006
NM_006031.6(PCNT):c.8883C>T (p.Ala2961=) rs371900466 0.00006
NM_006031.6(PCNT):c.8997-18G>T rs549927628 0.00006
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605 0.00006
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) rs202170105 0.00006
NM_006031.6(PCNT):c.2040A>G (p.Gln680=) rs541212970 0.00005
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=) rs756724097 0.00005
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836 0.00005
NM_006031.6(PCNT):c.4216+11C>T rs776009557 0.00005
NM_006031.6(PCNT):c.4447-18C>T rs772962754 0.00005
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=) rs143064269 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala) rs375035745 0.00005
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006031.6(PCNT):c.3464+14C>T rs187366347 0.00004
NM_006031.6(PCNT):c.3528C>T (p.Ala1176=) rs146928526 0.00004
NM_006031.6(PCNT):c.3607+12G>A rs750787900 0.00004
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=) rs761736816 0.00004
NM_006031.6(PCNT):c.4791+8G>A rs769352853 0.00004
NM_006031.6(PCNT):c.48G>A (p.Arg16=) rs778757744 0.00004
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=) rs181294356 0.00004
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952 0.00004
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=) rs777489939 0.00004
NM_006031.6(PCNT):c.6408G>C (p.Gly2136=) rs141594796 0.00004
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=) rs755956494 0.00004
NM_006031.6(PCNT):c.7180-16C>T rs972844919 0.00004
NM_006031.6(PCNT):c.7848C>T (p.Ser2616=) rs759569235 0.00004
NM_006031.6(PCNT):c.8349C>T (p.Asp2783=) rs145748861 0.00004
NM_006031.6(PCNT):c.9393+17G>A rs769089391 0.00004
NM_006031.6(PCNT):c.1207+9T>C rs372223976 0.00003
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) rs375581809 0.00003
NM_006031.6(PCNT):c.1762-16C>T rs756780396 0.00003
NM_006031.6(PCNT):c.2154+8G>A rs778407564 0.00003
NM_006031.6(PCNT):c.2454G>A (p.Gln818=) rs375305165 0.00003
NM_006031.6(PCNT):c.2779T>C (p.Leu927=) rs752161383 0.00003
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477 0.00003
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841 0.00003
NM_006031.6(PCNT):c.3411C>T (p.Gly1137=) rs375993930 0.00003
NM_006031.6(PCNT):c.363A>C (p.Thr121=) rs150766997 0.00003
NM_006031.6(PCNT):c.4614A>G (p.Glu1538=) rs551574709 0.00003
NM_006031.6(PCNT):c.54+9T>A rs771000653 0.00003
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773 0.00003
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016 0.00003
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=) rs532762118 0.00003
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=) rs780802031 0.00003
NM_006031.6(PCNT):c.1456+16G>A rs765900162 0.00002
NM_006031.6(PCNT):c.3312+14G>A rs371666981 0.00002
NM_006031.6(PCNT):c.4004-15G>A rs370163972 0.00002
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=) rs765239781 0.00002
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=) rs774962506 0.00002
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=) rs776946965 0.00002
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807 0.00002
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) rs569351854 0.00002
NM_006031.6(PCNT):c.5994+17G>A rs570628453 0.00002
NM_006031.6(PCNT):c.6150+10G>C rs886057186 0.00002
NM_006031.6(PCNT):c.7137G>T (p.Pro2379=) rs367977723 0.00002
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) rs745406750 0.00002
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=) rs541260181 0.00002
NM_006031.6(PCNT):c.7653G>A (p.Ala2551=) rs749003465 0.00002
NM_006031.6(PCNT):c.8412G>A (p.Leu2804=) rs529137460 0.00002
NM_006031.6(PCNT):c.8718G>A (p.Gln2906=) rs755984222 0.00002
NM_006031.6(PCNT):c.903C>T (p.His301=) rs1020485115 0.00002
NM_006031.6(PCNT):c.9393+9G>A rs562812369 0.00002
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.1457-9dup rs1486232846 0.00001
NM_006031.6(PCNT):c.1474C>T (p.Leu492=) rs772312106 0.00001
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153 0.00001
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243 0.00001
NM_006031.6(PCNT):c.1737T>C (p.Asp579=) rs1170990391 0.00001
NM_006031.6(PCNT):c.1899C>T (p.His633=) rs759570685 0.00001
NM_006031.6(PCNT):c.2610-20T>C rs772330014 0.00001
NM_006031.6(PCNT):c.2610-7G>A rs753811883 0.00001
NM_006031.6(PCNT):c.2991T>C (p.Phe997=) rs767625587 0.00001
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) rs752831769 0.00001
NM_006031.6(PCNT):c.3465-10C>T rs375839439 0.00001
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala) rs199787861 0.00001
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=) rs761411121 0.00001
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=) rs769080650 0.00001
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=) rs139543323 0.00001
NM_006031.6(PCNT):c.393G>A (p.Gly131=) rs752365337 0.00001
NM_006031.6(PCNT):c.3963A>C (p.Ala1321=) rs1269271029 0.00001
NM_006031.6(PCNT):c.4104G>C (p.Leu1368=) rs372049859 0.00001
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=) rs111697920 0.00001
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=) rs767908478 0.00001
NM_006031.6(PCNT):c.4386C>T (p.Ala1462=) rs765908073 0.00001
NM_006031.6(PCNT):c.4563+15C>T rs1234384421 0.00001
NM_006031.6(PCNT):c.4564-20C>T rs745809500 0.00001
NM_006031.6(PCNT):c.4585-10G>C rs530752009 0.00001
NM_006031.6(PCNT):c.4585-3T>C rs777059690 0.00001
NM_006031.6(PCNT):c.459A>G (p.Pro153=) rs570419067 0.00001
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269 0.00001
NM_006031.6(PCNT):c.5283C>T (p.His1761=) rs763259541 0.00001
NM_006031.6(PCNT):c.5385G>A (p.Ala1795=) rs371295884 0.00001
NM_006031.6(PCNT):c.54+14G>A rs368614001 0.00001
NM_006031.6(PCNT):c.5449C>T (p.Leu1817=) rs571289721 0.00001
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=) rs770667557 0.00001
NM_006031.6(PCNT):c.5613C>T (p.Ala1871=) rs764625701 0.00001
NM_006031.6(PCNT):c.5709C>T (p.Arg1903=) rs774766182 0.00001
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=) rs752349556 0.00001
NM_006031.6(PCNT):c.5976G>A (p.Pro1992=) rs1017180528 0.00001
NM_006031.6(PCNT):c.6088C>T (p.Leu2030=) rs1446531561 0.00001
NM_006031.6(PCNT):c.6192C>T (p.Val2064=) rs1229663143 0.00001
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=) rs763122571 0.00001
NM_006031.6(PCNT):c.6894C>T (p.Asp2298=) rs746661597 0.00001
NM_006031.6(PCNT):c.6921+11G>C rs772210169 0.00001
NM_006031.6(PCNT):c.6966A>G (p.Gln2322=) rs755460323 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=) rs1292668105 0.00001
NM_006031.6(PCNT):c.7321-10C>T rs587784318 0.00001
NM_006031.6(PCNT):c.7557C>T (p.Ser2519=) rs1296234306 0.00001
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708 0.00001
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=) rs369949793 0.00001
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=) rs766025734 0.00001
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684 0.00001
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=) rs777255057 0.00001
NM_006031.6(PCNT):c.8289C>T (p.His2763=) rs767100231 0.00001
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=) rs776706307 0.00001
NM_006031.6(PCNT):c.8352A>G (p.Thr2784=) rs753399184 0.00001
NM_006031.6(PCNT):c.8496G>A (p.Ala2832=) rs749568356 0.00001
NM_006031.6(PCNT):c.8712G>A (p.Ala2904=) rs767301271 0.00001
NM_006031.6(PCNT):c.8751+12C>A rs1405538473 0.00001
NM_006031.6(PCNT):c.8751+16C>T rs747366106 0.00001
NM_006031.6(PCNT):c.885A>G (p.Leu295=) rs769171675 0.00001
NM_006031.6(PCNT):c.8997-9T>C rs529504851 0.00001
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=) rs942925965 0.00001
NM_006031.6(PCNT):c.9100-18T>C rs772609834 0.00001
NM_006031.6(PCNT):c.9183G>A (p.Thr3061=) rs747455040 0.00001
NM_006031.6(PCNT):c.10008G>A (p.Gln3336=)
NM_006031.6(PCNT):c.1002A>G (p.Ser334=)
NM_006031.6(PCNT):c.1017C>T (p.Asn339=)
NM_006031.6(PCNT):c.1032+11T>A
NM_006031.6(PCNT):c.1032+13G>A
NM_006031.6(PCNT):c.1032+17C>G
NM_006031.6(PCNT):c.1032+7G>A rs774010817
NM_006031.6(PCNT):c.1032+9G>C
NM_006031.6(PCNT):c.1032+9del
NM_006031.6(PCNT):c.1033-12_1033-9del
NM_006031.6(PCNT):c.1033-15_1033-13del
NM_006031.6(PCNT):c.1033-19T>A
NM_006031.6(PCNT):c.1033-20T>G
NM_006031.6(PCNT):c.1033-7A>C
NM_006031.6(PCNT):c.1033-7A>T rs1214767120
NM_006031.6(PCNT):c.1059A>G (p.Glu353=)
NM_006031.6(PCNT):c.1066T>C (p.Leu356=)
NM_006031.6(PCNT):c.1081C>T (p.Leu361=)
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1095G>A (p.Leu365=)
NM_006031.6(PCNT):c.1104G>A (p.Lys368=)
NM_006031.6(PCNT):c.1113A>G (p.Ser371=)
NM_006031.6(PCNT):c.1122G>A (p.Glu374=)
NM_006031.6(PCNT):c.1167T>A (p.Ala389=)
NM_006031.6(PCNT):c.1171T>C (p.Leu391=)
NM_006031.6(PCNT):c.1173G>A (p.Leu391=)
NM_006031.6(PCNT):c.1179G>A (p.Lys393=)
NM_006031.6(PCNT):c.1203T>C (p.Ala401=)
NM_006031.6(PCNT):c.1207+18G>A
NM_006031.6(PCNT):c.1208-16T>C
NM_006031.6(PCNT):c.1208-18A>T
NM_006031.6(PCNT):c.1208-20C>T
NM_006031.6(PCNT):c.1208-4C>G
NM_006031.6(PCNT):c.1208-9C>T
NM_006031.6(PCNT):c.1209G>A (p.Arg403=)
NM_006031.6(PCNT):c.1239A>G (p.Gln413=)
NM_006031.6(PCNT):c.1248T>C (p.Ile416=)
NM_006031.6(PCNT):c.1266C>T (p.Asp422=)
NM_006031.6(PCNT):c.1275C>T (p.Ser425=)
NM_006031.6(PCNT):c.1278G>A (p.Glu426=) rs773448951
NM_006031.6(PCNT):c.1284C>A (p.Gly428=)
NM_006031.6(PCNT):c.1287G>A (p.Arg429=)
NM_006031.6(PCNT):c.1300T>C (p.Leu434=) rs1384003964
NM_006031.6(PCNT):c.1320G>A (p.Glu440=)
NM_006031.6(PCNT):c.1323C>T (p.Ser441=)
NM_006031.6(PCNT):c.1329A>G (p.Lys443=)
NM_006031.6(PCNT):c.1344+15C>T
NM_006031.6(PCNT):c.1344+16G>C
NM_006031.6(PCNT):c.1344+17T>A
NM_006031.6(PCNT):c.1344+18T>G
NM_006031.6(PCNT):c.1345-12T>C
NM_006031.6(PCNT):c.1345-14T>C
NM_006031.6(PCNT):c.1345-16A>G
NM_006031.6(PCNT):c.1345-20G>A
NM_006031.6(PCNT):c.1345-20G>C
NM_006031.6(PCNT):c.1359A>G (p.Gln453=)
NM_006031.6(PCNT):c.1368T>C (p.Tyr456=)
NM_006031.6(PCNT):c.1374C>T (p.Asp458=)
NM_006031.6(PCNT):c.1375C>T (p.Leu459=)
NM_006031.6(PCNT):c.1386A>G (p.Gln462=)
NM_006031.6(PCNT):c.1407C>G (p.Arg469=)
NM_006031.6(PCNT):c.1407C>T (p.Arg469=)
NM_006031.6(PCNT):c.1419G>A (p.Gln473=)
NM_006031.6(PCNT):c.1449A>G (p.Glu483=)
NM_006031.6(PCNT):c.1456+11G>A
NM_006031.6(PCNT):c.1456+11G>T
NM_006031.6(PCNT):c.1456+18A>G
NM_006031.6(PCNT):c.1457-10T>C
NM_006031.6(PCNT):c.1457-12G>A rs756968448
NM_006031.6(PCNT):c.1457-12G>C
NM_006031.6(PCNT):c.1457-13C>G
NM_006031.6(PCNT):c.1457-13C>T
NM_006031.6(PCNT):c.1457-20C>G
NM_006031.6(PCNT):c.1457-20C>T
NM_006031.6(PCNT):c.1457-7G>A
NM_006031.6(PCNT):c.1457-7G>T
NM_006031.6(PCNT):c.1457-8T>C
NM_006031.6(PCNT):c.1458G>A (p.Glu486=)
NM_006031.6(PCNT):c.1467G>A (p.Glu489=)
NM_006031.6(PCNT):c.1491T>C (p.Arg497=)
NM_006031.6(PCNT):c.1542C>G (p.Ser514=)
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1560G>A (p.Arg520=)
NM_006031.6(PCNT):c.1614A>T (p.Leu538=)
NM_006031.6(PCNT):c.1618C>T (p.Leu540=)
NM_006031.6(PCNT):c.1621T>C (p.Leu541=)
NM_006031.6(PCNT):c.1629G>A (p.Gln543=)
NM_006031.6(PCNT):c.1644G>A (p.Ala548=)
NM_006031.6(PCNT):c.1656T>A (p.Ala552=)
NM_006031.6(PCNT):c.1665C>T (p.Asp555=)
NM_006031.6(PCNT):c.1679+14T>C
NM_006031.6(PCNT):c.1679+16C>T
NM_006031.6(PCNT):c.1679+17C>T
NM_006031.6(PCNT):c.1679+17del
NM_006031.6(PCNT):c.1680-6C>T
NM_006031.6(PCNT):c.1680-7C>T
NM_006031.6(PCNT):c.1686C>T (p.Ser562=)
NM_006031.6(PCNT):c.1698A>G (p.Leu566=)
NM_006031.6(PCNT):c.1704G>A (p.Glu568=)
NM_006031.6(PCNT):c.1716A>G (p.Lys572=) rs138617654
NM_006031.6(PCNT):c.1719A>G (p.Gly573=)
NM_006031.6(PCNT):c.1731C>T (p.His577=)
NM_006031.6(PCNT):c.1761+10C>T
NM_006031.6(PCNT):c.1761+11G>A
NM_006031.6(PCNT):c.1761+12C>T
NM_006031.6(PCNT):c.1761+14C>G
NM_006031.6(PCNT):c.1761+15G>A
NM_006031.6(PCNT):c.1761+19A>G
NM_006031.6(PCNT):c.1761+20G>T
NM_006031.6(PCNT):c.1762-15G>A
NM_006031.6(PCNT):c.1762-15G>C
NM_006031.6(PCNT):c.1762-20C>T
NM_006031.6(PCNT):c.1762-6C>G
NM_006031.6(PCNT):c.1762-6C>T
NM_006031.6(PCNT):c.1779C>T (p.Phe593=)
NM_006031.6(PCNT):c.177G>A (p.Glu59=)
NM_006031.6(PCNT):c.1785G>A (p.Ala595=)
NM_006031.6(PCNT):c.1803C>T (p.His601=)
NM_006031.6(PCNT):c.1813C>T (p.Leu605=)
NM_006031.6(PCNT):c.1821G>C (p.Ala607=)
NM_006031.6(PCNT):c.1821G>T (p.Ala607=)
NM_006031.6(PCNT):c.1822C>T (p.Leu608=)
NM_006031.6(PCNT):c.1833C>T (p.Pro611=)
NM_006031.6(PCNT):c.183C>T (p.Ser61=)
NM_006031.6(PCNT):c.1842C>T (p.Ile614=)
NM_006031.6(PCNT):c.1848C>T (p.His616=)
NM_006031.6(PCNT):c.1851G>A (p.Glu617=)
NM_006031.6(PCNT):c.1854G>A (p.Gly618=)
NM_006031.6(PCNT):c.1875C>T (p.Cys625=)
NM_006031.6(PCNT):c.1891T>C (p.Leu631=)
NM_006031.6(PCNT):c.189C>G (p.Leu63=)
NM_006031.6(PCNT):c.189C>T (p.Leu63=)
NM_006031.6(PCNT):c.1907G>A (p.Arg636His)
NM_006031.6(PCNT):c.1920T>C (p.Ser640=)
NM_006031.6(PCNT):c.1936+13C>G
NM_006031.6(PCNT):c.1936+13C>T
NM_006031.6(PCNT):c.1936+14G>A
NM_006031.6(PCNT):c.1936+14G>C
NM_006031.6(PCNT):c.1936+18C>T
NM_006031.6(PCNT):c.1936+19G>A
NM_006031.6(PCNT):c.1937-14C>T
NM_006031.6(PCNT):c.1937-16C>A
NM_006031.6(PCNT):c.1937-17G>C
NM_006031.6(PCNT):c.1937-7C>G
NM_006031.6(PCNT):c.1937-7C>T
NM_006031.6(PCNT):c.1965G>A (p.Val655=) rs1601825062
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
NM_006031.6(PCNT):c.1980G>A (p.Leu660=)
NM_006031.6(PCNT):c.1986C>T (p.Ala662=)
NM_006031.6(PCNT):c.1989C>T (p.Asp663=)
NM_006031.6(PCNT):c.1995G>A (p.Glu665=)
NM_006031.6(PCNT):c.1998G>A (p.Arg666=)
NM_006031.6(PCNT):c.2005A>C (p.Arg669=)
NM_006031.6(PCNT):c.2010C>G (p.Val670=)
NM_006031.6(PCNT):c.2022A>G (p.Glu674=) rs2146725506
NM_006031.6(PCNT):c.2046G>A (p.Ser682=)
NM_006031.6(PCNT):c.204C>T (p.Asp68=)
NM_006031.6(PCNT):c.2055G>A (p.Gln685=)
NM_006031.6(PCNT):c.2058T>G (p.Thr686=)
NM_006031.6(PCNT):c.2064C>A (p.Leu688=)
NM_006031.6(PCNT):c.2064C>G (p.Leu688=)
NM_006031.6(PCNT):c.2064C>T (p.Leu688=)
NM_006031.6(PCNT):c.2076T>C (p.Ile692=)
NM_006031.6(PCNT):c.2085A>C (p.Leu695=)
NM_006031.6(PCNT):c.2104T>C (p.Leu702=)
NM_006031.6(PCNT):c.2118G>A (p.Leu706=)
NM_006031.6(PCNT):c.2142C>T (p.Asp714=)
NM_006031.6(PCNT):c.2154+10G>A
NM_006031.6(PCNT):c.2154+15C>T
NM_006031.6(PCNT):c.2154+19G>T
NM_006031.6(PCNT):c.2154+20C>G
NM_006031.6(PCNT):c.2154+20C>T
NM_006031.6(PCNT):c.2154+7C>T rs376236418
NM_006031.6(PCNT):c.2154+8G>C
NM_006031.6(PCNT):c.2155-13_2155-12del
NM_006031.6(PCNT):c.2155-20T>G
NM_006031.6(PCNT):c.2155-6C>G
NM_006031.6(PCNT):c.2155-7T>C
NM_006031.6(PCNT):c.2155-7T>G
NM_006031.6(PCNT):c.2169A>C (p.Leu723=)
NM_006031.6(PCNT):c.2193A>G (p.Leu731=)
NM_006031.6(PCNT):c.219A>G (p.Thr73=)
NM_006031.6(PCNT):c.219A>T (p.Thr73=)
NM_006031.6(PCNT):c.21G>A (p.Gln7=)
NM_006031.6(PCNT):c.2208A>G (p.Gln736=)
NM_006031.6(PCNT):c.2214T>C (p.Thr738=)
NM_006031.6(PCNT):c.222A>G (p.Ser74=)
NM_006031.6(PCNT):c.2250G>A (p.Thr750=) rs749527537
NM_006031.6(PCNT):c.2250G>T (p.Thr750=)
NM_006031.6(PCNT):c.2253C>T (p.Asp751=)
NM_006031.6(PCNT):c.2274G>A (p.Glu758=)
NM_006031.6(PCNT):c.2298G>A (p.Lys766=)
NM_006031.6(PCNT):c.2304A>G (p.Thr768=)
NM_006031.6(PCNT):c.2313A>C (p.Leu771=)
NM_006031.6(PCNT):c.231C>T (p.Asp77=)
NM_006031.6(PCNT):c.2331G>A (p.Lys777=)
NM_006031.6(PCNT):c.2340C>G (p.Ser780=)
NM_006031.6(PCNT):c.2340C>T (p.Ser780=)
NM_006031.6(PCNT):c.234C>A (p.Thr78=)
NM_006031.6(PCNT):c.234C>T (p.Thr78=)
NM_006031.6(PCNT):c.2352C>T (p.Thr784=)
NM_006031.6(PCNT):c.2382T>C (p.Ala794=)
NM_006031.6(PCNT):c.2385A>G (p.Glu795=)
NM_006031.6(PCNT):c.2421C>T (p.Ile807=)
NM_006031.6(PCNT):c.2424G>C (p.Leu808=)
NM_006031.6(PCNT):c.2445G>A (p.Thr815=)
NM_006031.6(PCNT):c.2445G>T (p.Thr815=)
NM_006031.6(PCNT):c.2451G>A (p.Gln817=)
NM_006031.6(PCNT):c.2460C>A (p.Arg820=)
NM_006031.6(PCNT):c.2461C>T (p.Leu821=)
NM_006031.6(PCNT):c.246A>G (p.Ala82=)
NM_006031.6(PCNT):c.2475A>G (p.Glu825=)
NM_006031.6(PCNT):c.2481C>T (p.Asp827=)
NM_006031.6(PCNT):c.2484C>T (p.Leu828=)
NM_006031.6(PCNT):c.2496C>T (p.Asp832=)
NM_006031.6(PCNT):c.2499C>A (p.Ala833=)
NM_006031.6(PCNT):c.24G>A (p.Arg8=)
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.2502G>A (p.Leu834=)
NM_006031.6(PCNT):c.2508C>T (p.Cys836=)
NM_006031.6(PCNT):c.2529G>A (p.Pro843=)
NM_006031.6(PCNT):c.2529G>T (p.Pro843=)
NM_006031.6(PCNT):c.252G>A (p.Gly84=)
NM_006031.6(PCNT):c.252G>C (p.Gly84=)
NM_006031.6(PCNT):c.2544C>T (p.Asp848=)
NM_006031.6(PCNT):c.2558C>T (p.Ala853Val)
NM_006031.6(PCNT):c.2559G>C (p.Ala853=)
NM_006031.6(PCNT):c.255C>A (p.Ala85=)
NM_006031.6(PCNT):c.2562C>G (p.Leu854=)
NM_006031.6(PCNT):c.2565C>T (p.His855=)
NM_006031.6(PCNT):c.2580C>T (p.Cys860=)
NM_006031.6(PCNT):c.2609+13T>A
NM_006031.6(PCNT):c.2609+17G>A
NM_006031.6(PCNT):c.2610-11T>G
NM_006031.6(PCNT):c.2610-15A>G
NM_006031.6(PCNT):c.2610-18T>C
NM_006031.6(PCNT):c.2619G>A (p.Glu873=)
NM_006031.6(PCNT):c.2625T>C (p.Arg875=)
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) rs758820636
NM_006031.6(PCNT):c.2637C>T (p.Thr879=) rs369248579
NM_006031.6(PCNT):c.2640G>A (p.Glu880=)
NM_006031.6(PCNT):c.2652G>A (p.Ala884=)
NM_006031.6(PCNT):c.267+13A>G
NM_006031.6(PCNT):c.267+14A>G
NM_006031.6(PCNT):c.267+17T>G
NM_006031.6(PCNT):c.267+18T>C
NM_006031.6(PCNT):c.267+8dup
NM_006031.6(PCNT):c.2670G>T (p.Leu890=)
NM_006031.6(PCNT):c.268-13C>T
NM_006031.6(PCNT):c.268-13del
NM_006031.6(PCNT):c.268-14C>T
NM_006031.6(PCNT):c.268-17G>T
NM_006031.6(PCNT):c.268-19C>T
NM_006031.6(PCNT):c.268-4T>C rs1569162349
NM_006031.6(PCNT):c.268-5C>T
NM_006031.6(PCNT):c.268-5_268-3del rs751683541
NM_006031.6(PCNT):c.268-8C>G
NM_006031.6(PCNT):c.268-9C>G
NM_006031.6(PCNT):c.2697T>G (p.Arg899=)
NM_006031.6(PCNT):c.2708T>C (p.Leu903Pro)
NM_006031.6(PCNT):c.2736C>A (p.Leu912=)
NM_006031.6(PCNT):c.2737C>T (p.Leu913=)
NM_006031.6(PCNT):c.2748G>A (p.Thr916=)
NM_006031.6(PCNT):c.2748G>T (p.Thr916=)
NM_006031.6(PCNT):c.2751G>A (p.Ala917=)
NM_006031.6(PCNT):c.2757C>T (p.Leu919=)
NM_006031.6(PCNT):c.2775C>T (p.Ala925=)
NM_006031.6(PCNT):c.2790G>A (p.Leu930=)
NM_006031.6(PCNT):c.27C>T (p.Arg9=)
NM_006031.6(PCNT):c.2821C>T (p.Leu941=)
NM_006031.6(PCNT):c.2835T>C (p.Arg945=)
NM_006031.6(PCNT):c.2841C>T (p.Ala947=)
NM_006031.6(PCNT):c.2856A>G (p.Lys952=)
NM_006031.6(PCNT):c.2859C>T (p.His953=)
NM_006031.6(PCNT):c.2871C>T (p.Leu957=)
NM_006031.6(PCNT):c.2874C>T (p.Gly958=)
NM_006031.6(PCNT):c.2883G>A (p.Glu961=)
NM_006031.6(PCNT):c.288G>A (p.Glu96=)
NM_006031.6(PCNT):c.2893C>T (p.Leu965=)
NM_006031.6(PCNT):c.2895G>A (p.Leu965=)
NM_006031.6(PCNT):c.2895G>T (p.Leu965=)
NM_006031.6(PCNT):c.2925C>T (p.Tyr975=)
NM_006031.6(PCNT):c.2967C>G (p.Ala989=)
NM_006031.6(PCNT):c.2968C>T (p.Leu990=)
NM_006031.6(PCNT):c.2976C>G (p.Leu992=)
NM_006031.6(PCNT):c.2994G>A (p.Glu998=)
NM_006031.6(PCNT):c.3000A>G (p.Gln1000=)
NM_006031.6(PCNT):c.3009A>G (p.Lys1003=)
NM_006031.6(PCNT):c.3018T>C (p.Ser1006=)
NM_006031.6(PCNT):c.3021T>C (p.Leu1007=)
NM_006031.6(PCNT):c.3036G>A (p.Leu1012=)
NM_006031.6(PCNT):c.3054A>G (p.Lys1018=)
NM_006031.6(PCNT):c.3066A>G (p.Lys1022=)
NM_006031.6(PCNT):c.3069C>T (p.His1023=)
NM_006031.6(PCNT):c.3081A>G (p.Leu1027=)
NM_006031.6(PCNT):c.3087T>C (p.Ser1029=)
NM_006031.6(PCNT):c.3100C>T (p.Leu1034=)
NM_006031.6(PCNT):c.3126C>T (p.Leu1042=)
NM_006031.6(PCNT):c.3129C>T (p.Ala1043=)
NM_006031.6(PCNT):c.3135C>G (p.Thr1045=)
NM_006031.6(PCNT):c.3135C>T (p.Thr1045=)
NM_006031.6(PCNT):c.3148C>T (p.Leu1050=)
NM_006031.6(PCNT):c.3159G>A (p.Val1053=)
NM_006031.6(PCNT):c.315G>A (p.Gln105=)
NM_006031.6(PCNT):c.3162C>T (p.His1054=)
NM_006031.6(PCNT):c.3165+13G>A
NM_006031.6(PCNT):c.3165+15C>T
NM_006031.6(PCNT):c.3165+19G>A
NM_006031.6(PCNT):c.3165+7C>T
NM_006031.6(PCNT):c.3165+8G>A
NM_006031.6(PCNT):c.3165+8G>T
NM_006031.6(PCNT):c.3166-13T>C
NM_006031.6(PCNT):c.3166-14A>G
NM_006031.6(PCNT):c.3166-20A>G
NM_006031.6(PCNT):c.3166-20_3166-18del
NM_006031.6(PCNT):c.3166-6G>A
NM_006031.6(PCNT):c.3166-8G>A
NM_006031.6(PCNT):c.3168T>G (p.Gly1056=) rs2147145493
NM_006031.6(PCNT):c.3186G>A (p.Lys1062=)
NM_006031.6(PCNT):c.3204A>G (p.Glu1068=)
NM_006031.6(PCNT):c.3216A>G (p.Thr1072=)
NM_006031.6(PCNT):c.3222G>A (p.Arg1074=)
NM_006031.6(PCNT):c.3246T>A (p.Pro1082=)
NM_006031.6(PCNT):c.3271T>C (p.Leu1091=)
NM_006031.6(PCNT):c.3312+11T>A
NM_006031.6(PCNT):c.3312+13C>G
NM_006031.6(PCNT):c.3312+13C>T
NM_006031.6(PCNT):c.3312+16T>C
NM_006031.6(PCNT):c.3312+16T>G
NM_006031.6(PCNT):c.3312+16_3312+19dup
NM_006031.6(PCNT):c.3312+19T>C
NM_006031.6(PCNT):c.3312+20C>T
NM_006031.6(PCNT):c.3312+7_3312+10dup
NM_006031.6(PCNT):c.3313-14A>G
NM_006031.6(PCNT):c.3313-15C>G
NM_006031.6(PCNT):c.3313-5G>A
NM_006031.6(PCNT):c.3313-5G>C
NM_006031.6(PCNT):c.3313-6C>T
NM_006031.6(PCNT):c.3313-8C>T
NM_006031.6(PCNT):c.3328T>C (p.Leu1110=)
NM_006031.6(PCNT):c.3330A>G (p.Leu1110=)
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=) rs2085811037
NM_006031.6(PCNT):c.3336A>G (p.Leu1112=)
NM_006031.6(PCNT):c.3342C>T (p.His1114=)
NM_006031.6(PCNT):c.3345G>A (p.Glu1115=)
NM_006031.6(PCNT):c.3354G>A (p.Glu1118=)
NM_006031.6(PCNT):c.3360C>T (p.Arg1120=)
NM_006031.6(PCNT):c.3367T>C (p.Leu1123=)
NM_006031.6(PCNT):c.3369G>A (p.Leu1123=)
NM_006031.6(PCNT):c.3372G>A (p.Glu1124=)
NM_006031.6(PCNT):c.3375G>A (p.Val1125=)
NM_006031.6(PCNT):c.3376C>T (p.Leu1126=)
NM_006031.6(PCNT):c.3378G>A (p.Leu1126=)
NM_006031.6(PCNT):c.33G>A (p.Lys11=)
NM_006031.6(PCNT):c.3402C>T (p.Asn1134=)
NM_006031.6(PCNT):c.3404G>A (p.Arg1135Gln)
NM_006031.6(PCNT):c.3420C>G (p.Leu1140=)
NM_006031.6(PCNT):c.3438C>T (p.Ala1146=)
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.3453C>A (p.Ser1151=)
NM_006031.6(PCNT):c.3459C>T (p.Ser1153=)
NM_006031.6(PCNT):c.345G>A (p.Glu115=)
NM_006031.6(PCNT):c.3464+12C>T
NM_006031.6(PCNT):c.3464+14C>A
NM_006031.6(PCNT):c.3464+15G>A
NM_006031.6(PCNT):c.3464+17C>T
NM_006031.6(PCNT):c.3464+19C>G
NM_006031.6(PCNT):c.3464+19C>T
NM_006031.6(PCNT):c.3464+20C>G
NM_006031.6(PCNT):c.3464+20C>T
NM_006031.6(PCNT):c.3465-12C>G
NM_006031.6(PCNT):c.3465-14G>A
NM_006031.6(PCNT):c.3465-16G>T
NM_006031.6(PCNT):c.3465-20A>G
NM_006031.6(PCNT):c.3465-8T>C rs997591754
NM_006031.6(PCNT):c.3471C>T (p.Ala1157=)
NM_006031.6(PCNT):c.3480C>T (p.Asp1160=)
NM_006031.6(PCNT):c.3483C>T (p.Ala1161=)
NM_006031.6(PCNT):c.3510A>G (p.Gly1170=)
NM_006031.6(PCNT):c.3516G>A (p.Thr1172=)
NM_006031.6(PCNT):c.3531C>G (p.Val1177=)
NM_006031.6(PCNT):c.3535C>T (p.Leu1179=)
NM_006031.6(PCNT):c.354G>C (p.Gly118=)
NM_006031.6(PCNT):c.3558C>G (p.Arg1186=)
NM_006031.6(PCNT):c.3558C>T (p.Arg1186=)
NM_006031.6(PCNT):c.3567C>T (p.Leu1189=)
NM_006031.6(PCNT):c.3579C>T (p.Asp1193=)
NM_006031.6(PCNT):c.3582G>A (p.Ala1194=)
NM_006031.6(PCNT):c.3582G>T (p.Ala1194=)
NM_006031.6(PCNT):c.3585C>T (p.Gly1195=)
NM_006031.6(PCNT):c.3588A>T (p.Ala1196=)
NM_006031.6(PCNT):c.3597C>G (p.Ala1199=)
NM_006031.6(PCNT):c.3597C>T (p.Ala1199=)
NM_006031.6(PCNT):c.3600G>A (p.Leu1200=)
NM_006031.6(PCNT):c.3603G>A (p.Ser1201=)
NM_006031.6(PCNT):c.3603G>T (p.Ser1201=)
NM_006031.6(PCNT):c.3607+11C>T
NM_006031.6(PCNT):c.3607+14G>A
NM_006031.6(PCNT):c.3607+15A>T
NM_006031.6(PCNT):c.3607+19G>C
NM_006031.6(PCNT):c.3608-10C>T
NM_006031.6(PCNT):c.3608-18C>T
NM_006031.6(PCNT):c.3608-9A>G
NM_006031.6(PCNT):c.3612G>A (p.Pro1204=)
NM_006031.6(PCNT):c.3612G>T (p.Pro1204=)
NM_006031.6(PCNT):c.3615G>T (p.Ala1205=)
NM_006031.6(PCNT):c.3621G>A (p.Glu1207=)
NM_006031.6(PCNT):c.3624G>A (p.Glu1208=)
NM_006031.6(PCNT):c.3627A>G (p.Thr1209=)
NM_006031.6(PCNT):c.3636T>C (p.Asp1212=)
NM_006031.6(PCNT):c.3651G>A (p.Glu1217=)
NM_006031.6(PCNT):c.3652T>C (p.Leu1218=)
NM_006031.6(PCNT):c.3654G>A (p.Leu1218=)
NM_006031.6(PCNT):c.366C>G (p.Val122=)
NM_006031.6(PCNT):c.3678A>G (p.Ala1226=)
NM_006031.6(PCNT):c.3699A>G (p.Glu1233=)
NM_006031.6(PCNT):c.36G>A (p.Val12=)
NM_006031.6(PCNT):c.3735C>A (p.Ser1245Arg)
NM_006031.6(PCNT):c.3744T>C (p.Ser1248=)
NM_006031.6(PCNT):c.3747G>T (p.Val1249=)
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.3765C>T (p.Pro1255=)
NM_006031.6(PCNT):c.3768C>T (p.Ile1256=)
NM_006031.6(PCNT):c.3771G>T (p.Arg1257=)
NM_006031.6(PCNT):c.3780C>T (p.Phe1260=)
NM_006031.6(PCNT):c.3789C>T (p.Leu1263=)
NM_006031.6(PCNT):c.3804C>T (p.Asp1268=)
NM_006031.6(PCNT):c.3810C>T (p.Leu1270=) rs1189912868
NM_006031.6(PCNT):c.3822C>T (p.Ala1274=)
NM_006031.6(PCNT):c.3831C>T (p.Ser1277=) rs1156521433
NM_006031.6(PCNT):c.3834C>T (p.Ser1278=)
NM_006031.6(PCNT):c.3840+14T>G
NM_006031.6(PCNT):c.3840+17C>T
NM_006031.6(PCNT):c.3840+18G>A
NM_006031.6(PCNT):c.3840+20G>C
NM_006031.6(PCNT):c.3840+9C>T
NM_006031.6(PCNT):c.3841-10G>A
NM_006031.6(PCNT):c.3841-12G>A
NM_006031.6(PCNT):c.3841-16A>G
NM_006031.6(PCNT):c.3841-19T>G
NM_006031.6(PCNT):c.3841-9T>A
NM_006031.6(PCNT):c.3843G>A (p.Leu1281=)
NM_006031.6(PCNT):c.3849A>G (p.Glu1283=)
NM_006031.6(PCNT):c.3867T>C (p.Ser1289=)
NM_006031.6(PCNT):c.3870T>A (p.Arg1290=)
NM_006031.6(PCNT):c.3882A>G (p.Glu1294=)
NM_006031.6(PCNT):c.3927C>T (p.His1309=)
NM_006031.6(PCNT):c.3936G>T (p.Leu1312=)
NM_006031.6(PCNT):c.3939G>A (p.Leu1313=)
NM_006031.6(PCNT):c.3951G>A (p.Lys1317=)
NM_006031.6(PCNT):c.3957G>A (p.Glu1319=)
NM_006031.6(PCNT):c.3960C>T (p.Ser1320=)
NM_006031.6(PCNT):c.3978G>A (p.Leu1326=)
NM_006031.6(PCNT):c.3981G>A (p.Ala1327=)
NM_006031.6(PCNT):c.3988C>T (p.Leu1330=)
NM_006031.6(PCNT):c.3990G>A (p.Leu1330=)
NM_006031.6(PCNT):c.4003+10A>G
NM_006031.6(PCNT):c.4003+16C>A
NM_006031.6(PCNT):c.4003+17C>G
NM_006031.6(PCNT):c.4003+19C>T
NM_006031.6(PCNT):c.4003+20G>A
NM_006031.6(PCNT):c.4003+7A>G
NM_006031.6(PCNT):c.4003+9C>G
NM_006031.6(PCNT):c.4004-15G>C
NM_006031.6(PCNT):c.4004-18T>C
NM_006031.6(PCNT):c.4004-8C>G
NM_006031.6(PCNT):c.4008C>G (p.Thr1336=)
NM_006031.6(PCNT):c.4020C>T (p.Phe1340=)
NM_006031.6(PCNT):c.4029G>A (p.Glu1343=)
NM_006031.6(PCNT):c.4032A>G (p.Thr1344=)
NM_006031.6(PCNT):c.4032A>T (p.Thr1344=)
NM_006031.6(PCNT):c.4039C>T (p.Leu1347=)
NM_006031.6(PCNT):c.4041G>C (p.Leu1347=)
NM_006031.6(PCNT):c.4044G>A (p.Lys1348=)
NM_006031.6(PCNT):c.4071C>T (p.Ser1357=)
NM_006031.6(PCNT):c.4077C>T (p.His1359=)
NM_006031.6(PCNT):c.4083G>C (p.Leu1361=) rs368626471
NM_006031.6(PCNT):c.4098G>A (p.Glu1366=)
NM_006031.6(PCNT):c.4119G>A (p.Gln1373=)
NM_006031.6(PCNT):c.4125G>A (p.Ala1375=)
NM_006031.6(PCNT):c.4128C>G (p.Ala1376=)
NM_006031.6(PCNT):c.4134G>A (p.Glu1378=)
NM_006031.6(PCNT):c.4140G>T (p.Ala1380=)
NM_006031.6(PCNT):c.4176G>T (p.Arg1392=)
NM_006031.6(PCNT):c.4185C>G (p.Ala1395=)
NM_006031.6(PCNT):c.4194G>A (p.Thr1398=)
NM_006031.6(PCNT):c.4200C>T (p.Ala1400=)
NM_006031.6(PCNT):c.4209A>G (p.Arg1403=)
NM_006031.6(PCNT):c.420A>G (p.Pro140=) rs527413251
NM_006031.6(PCNT):c.4216+10G>A
NM_006031.6(PCNT):c.4216+12G>A
NM_006031.6(PCNT):c.4216+17G>C
NM_006031.6(PCNT):c.4216+21_4216+39dup
NM_006031.6(PCNT):c.4216+8G>T
NM_006031.6(PCNT):c.4217-19G>A
NM_006031.6(PCNT):c.4217-6C>T
NM_006031.6(PCNT):c.4217-7T>C
NM_006031.6(PCNT):c.4221C>T (p.Leu1407=)
NM_006031.6(PCNT):c.423A>G (p.Glu141=)
NM_006031.6(PCNT):c.4245C>G (p.Thr1415=)
NM_006031.6(PCNT):c.4248A>G (p.Lys1416=)
NM_006031.6(PCNT):c.4257G>A (p.Ser1419=)
NM_006031.6(PCNT):c.4263C>T (p.Thr1421=)
NM_006031.6(PCNT):c.4281G>A (p.Lys1427=)
NM_006031.6(PCNT):c.4294C>T (p.Leu1432=)
NM_006031.6(PCNT):c.4299C>T (p.Leu1433=)
NM_006031.6(PCNT):c.4302C>A (p.Ser1434=)
NM_006031.6(PCNT):c.4305G>A (p.Gln1435=)
NM_006031.6(PCNT):c.4339C>T (p.Leu1447=)
NM_006031.6(PCNT):c.4353C>T (p.Arg1451=)
NM_006031.6(PCNT):c.4356G>A (p.Gly1452=)
NM_006031.6(PCNT):c.4374G>A (p.Glu1458=)
NM_006031.6(PCNT):c.4377C>G (p.Ala1459=)
NM_006031.6(PCNT):c.4377C>T (p.Ala1459=) rs552768332
NM_006031.6(PCNT):c.4389G>T (p.Leu1463=)
NM_006031.6(PCNT):c.4408C>T (p.Leu1470=)
NM_006031.6(PCNT):c.4425C>T (p.Arg1475=)
NM_006031.6(PCNT):c.4440C>T (p.Phe1480=)
NM_006031.6(PCNT):c.4446+14A>G
NM_006031.6(PCNT):c.4446+15T>G
NM_006031.6(PCNT):c.4446+17A>G
NM_006031.6(PCNT):c.4446+17_4446+19del
NM_006031.6(PCNT):c.4446+7A>T
NM_006031.6(PCNT):c.4447-14G>C
NM_006031.6(PCNT):c.4447-15T>C
NM_006031.6(PCNT):c.4447-16C>T
NM_006031.6(PCNT):c.4447-17G>A
NM_006031.6(PCNT):c.4447-17G>T
NM_006031.6(PCNT):c.4447-4C>T
NM_006031.6(PCNT):c.4455A>T (p.Ala1485=)
NM_006031.6(PCNT):c.4458C>T (p.Ala1486=)
NM_006031.6(PCNT):c.4470C>T (p.His1490=)
NM_006031.6(PCNT):c.4476C>T (p.Arg1492=)
NM_006031.6(PCNT):c.4482G>A (p.Glu1494=)
NM_006031.6(PCNT):c.4506G>A (p.Leu1502=)
NM_006031.6(PCNT):c.4518C>T (p.Leu1506=)
NM_006031.6(PCNT):c.4521C>A (p.Arg1507=)
NM_006031.6(PCNT):c.4530C>G (p.Ala1510=)
NM_006031.6(PCNT):c.4536G>A (p.Pro1512=)
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=) rs762692764
NM_006031.6(PCNT):c.4554C>G (p.Arg1518=)
NM_006031.6(PCNT):c.4557C>T (p.Asp1519=) rs768029500
NM_006031.6(PCNT):c.4563+13A>G
NM_006031.6(PCNT):c.4563+14G>A
NM_006031.6(PCNT):c.4563+16G>A
NM_006031.6(PCNT):c.4563+16G>T
NM_006031.6(PCNT):c.4564-13A>G
NM_006031.6(PCNT):c.4564-14C>T
NM_006031.6(PCNT):c.4564-16T>C
NM_006031.6(PCNT):c.4564-18T>C
NM_006031.6(PCNT):c.4564-19A>G
NM_006031.6(PCNT):c.4564-4G>A
NM_006031.6(PCNT):c.4564-6C>G
NM_006031.6(PCNT):c.4564-6C>T
NM_006031.6(PCNT):c.4569G>A (p.Ala1523=)
NM_006031.6(PCNT):c.4584+10C>T
NM_006031.6(PCNT):c.4584+11G>A rs752879780
NM_006031.6(PCNT):c.4584+11G>C rs752879780
NM_006031.6(PCNT):c.4584+14_4584+16del
NM_006031.6(PCNT):c.4584+16C>T
NM_006031.6(PCNT):c.4584+17G>A
NM_006031.6(PCNT):c.4584+7_4584+9del
NM_006031.6(PCNT):c.4585-10G>A
NM_006031.6(PCNT):c.4585-13T>G
NM_006031.6(PCNT):c.4585-4T>C
NM_006031.6(PCNT):c.45G>A (p.Gly15=)
NM_006031.6(PCNT):c.45G>C (p.Gly15=)
NM_006031.6(PCNT):c.4605G>A (p.Lys1535=)
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=) rs587784305
NM_006031.6(PCNT):c.4618T>C (p.Leu1540=)
NM_006031.6(PCNT):c.4620G>A (p.Leu1540=)
NM_006031.6(PCNT):c.4629T>C (p.Phe1543=)
NM_006031.6(PCNT):c.4641T>C (p.Ala1547=)
NM_006031.6(PCNT):c.4650A>G (p.Lys1550=)
NM_006031.6(PCNT):c.4656G>A (p.Ser1552=)
NM_006031.6(PCNT):c.465G>A (p.Gln155=)
NM_006031.6(PCNT):c.4662T>C (p.Asp1554=)
NM_006031.6(PCNT):c.4692T>A (p.Ile1564=)
NM_006031.6(PCNT):c.46A>C (p.Arg16=)
NM_006031.6(PCNT):c.4716C>T (p.Ile1572=)
NM_006031.6(PCNT):c.4719C>T (p.Asn1573=)
NM_006031.6(PCNT):c.471G>C (p.Gly157=) rs1301515712
NM_006031.6(PCNT):c.4734G>C (p.Val1578=)
NM_006031.6(PCNT):c.4743C>A (p.Leu1581=)
NM_006031.6(PCNT):c.4743C>G (p.Leu1581=)
NM_006031.6(PCNT):c.4749A>G (p.Glu1583=)
NM_006031.6(PCNT):c.4755G>A (p.Val1585=)
NM_006031.6(PCNT):c.4773C>T (p.Ile1591=)
NM_006031.6(PCNT):c.477C>T (p.Phe159=)
NM_006031.6(PCNT):c.4791+7C>T
NM_006031.6(PCNT):c.4792-13T>C
NM_006031.6(PCNT):c.4792-16C>A
NM_006031.6(PCNT):c.4792-16C>T
NM_006031.6(PCNT):c.4792-4del
NM_006031.6(PCNT):c.4792-6T>A
NM_006031.6(PCNT):c.4792-6T>C
NM_006031.6(PCNT):c.4792-8T>C
NM_006031.6(PCNT):c.4803G>A (p.Val1601=)
NM_006031.6(PCNT):c.4809G>A (p.Lys1603=)
NM_006031.6(PCNT):c.4818G>A (p.Gln1606=)
NM_006031.6(PCNT):c.4839G>A (p.Ala1613=)
NM_006031.6(PCNT):c.4839G>C (p.Ala1613=)
NM_006031.6(PCNT):c.483C>G (p.Val161=)
NM_006031.6(PCNT):c.4845G>A (p.Thr1615=)
NM_006031.6(PCNT):c.4857A>G (p.Thr1619=)
NM_006031.6(PCNT):c.4872A>G (p.Arg1624=)
NM_006031.6(PCNT):c.4890G>A (p.Ser1630=)
NM_006031.6(PCNT):c.489C>T (p.Asp163=)
NM_006031.6(PCNT):c.4938A>G (p.Arg1646=)
NM_006031.6(PCNT):c.4941A>G (p.Ala1647=)
NM_006031.6(PCNT):c.4945C>T (p.Leu1649=)
NM_006031.6(PCNT):c.4959C>T (p.Ser1653=)
NM_006031.6(PCNT):c.4962+11A>C
NM_006031.6(PCNT):c.4962+14G>A
NM_006031.6(PCNT):c.4962+17G>A
NM_006031.6(PCNT):c.4962+20A>G
NM_006031.6(PCNT):c.4963-16_4963-14del
NM_006031.6(PCNT):c.4963-18C>G
NM_006031.6(PCNT):c.4963-8A>G
NM_006031.6(PCNT):c.4963-9T>G
NM_006031.6(PCNT):c.4980A>G (p.Glu1660=)
NM_006031.6(PCNT):c.4986A>G (p.Leu1662=)
NM_006031.6(PCNT):c.5004C>T (p.Asp1668=)
NM_006031.6(PCNT):c.501A>G (p.Glu167=)
NM_006031.6(PCNT):c.5029C>T (p.Leu1677=)
NM_006031.6(PCNT):c.5034T>C (p.His1678=)
NM_006031.6(PCNT):c.5047T>C (p.Leu1683=) rs145305649
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=) rs570456724
NM_006031.6(PCNT):c.5097A>G (p.Glu1699=)
NM_006031.6(PCNT):c.5103C>T (p.Asn1701=)
NM_006031.6(PCNT):c.5106G>A (p.Thr1702=)
NM_006031.6(PCNT):c.5106G>C (p.Thr1702=)
NM_006031.6(PCNT):c.5110T>C (p.Leu1704=)
NM_006031.6(PCNT):c.5115+20C>T
NM_006031.6(PCNT):c.5115+9C>A
NM_006031.6(PCNT):c.5116-12C>G
NM_006031.6(PCNT):c.5116-17A>G
NM_006031.6(PCNT):c.5116-6C>T
NM_006031.6(PCNT):c.5128A>C (p.Arg1710=)
NM_006031.6(PCNT):c.5142T>C (p.Ile1714=)
NM_006031.6(PCNT):c.5145A>G (p.Glu1715=)
NM_006031.6(PCNT):c.5172G>T (p.Leu1724=)
NM_006031.6(PCNT):c.5175A>G (p.Gln1725=) rs750305466
NM_006031.6(PCNT):c.519_520insGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACA (p.Val161_Thr173dup) rs769893798
NM_006031.6(PCNT):c.51G>C (p.Thr17=)
NM_006031.6(PCNT):c.5208A>C (p.Ala1736=)
NM_006031.6(PCNT):c.520_558del (p.Ile174_Thr186del) rs1569163286
NM_006031.6(PCNT):c.5223A>G (p.Gln1741=)
NM_006031.6(PCNT):c.5235C>T (p.Val1745=)
NM_006031.6(PCNT):c.5247G>C (p.Leu1749=)
NM_006031.6(PCNT):c.5253C>T (p.His1751=) rs114799541
NM_006031.6(PCNT):c.5280G>A (p.Val1760=)
NM_006031.6(PCNT):c.5292C>T (p.Ser1764=)
NM_006031.6(PCNT):c.5310T>C (p.Ser1770=)
NM_006031.6(PCNT):c.5313G>A (p.Leu1771=)
NM_006031.6(PCNT):c.5319C>T (p.Ser1773=)
NM_006031.6(PCNT):c.5328C>T (p.Leu1776=)
NM_006031.6(PCNT):c.5331C>T (p.Cys1777=)
NM_006031.6(PCNT):c.5340C>G (p.Ala1780=)
NM_006031.6(PCNT):c.5340C>T (p.Ala1780=)
NM_006031.6(PCNT):c.5343G>A (p.Gly1781=)
NM_006031.6(PCNT):c.534A>G (p.Gln178=)
NM_006031.6(PCNT):c.5355G>T (p.Gly1785=)
NM_006031.6(PCNT):c.5361C>A (p.Ala1787=)
NM_006031.6(PCNT):c.5370C>A (p.Gly1790=)
NM_006031.6(PCNT):c.5373G>A (p.Glu1791=)
NM_006031.6(PCNT):c.5376C>T (p.Leu1792=) rs892137240
NM_006031.6(PCNT):c.537G>A (p.Pro179=) rs754732068
NM_006031.6(PCNT):c.537G>C (p.Pro179=)
NM_006031.6(PCNT):c.54+12G>C
NM_006031.6(PCNT):c.54+13G>A
NM_006031.6(PCNT):c.54+20T>A
NM_006031.6(PCNT):c.54+20T>C
NM_006031.6(PCNT):c.54+8_54+10del
NM_006031.6(PCNT):c.5409C>T (p.Ser1803=) rs1386858499
NM_006031.6(PCNT):c.5424C>T (p.Asp1808=) rs1602005291
NM_006031.6(PCNT):c.5433C>T (p.Arg1811=)
NM_006031.6(PCNT):c.5436G>A (p.Arg1812=)
NM_006031.6(PCNT):c.543G>A (p.Gln181=)
NM_006031.6(PCNT):c.5451G>A (p.Leu1817=)
NM_006031.6(PCNT):c.5457C>G (p.Ala1819=)
NM_006031.6(PCNT):c.5457C>T (p.Ala1819=)
NM_006031.6(PCNT):c.546T>A (p.Arg182=)
NM_006031.6(PCNT):c.5475G>A (p.Gln1825=)
NM_006031.6(PCNT):c.5478C>T (p.Gly1826=)
NM_006031.6(PCNT):c.5487G>A (p.Glu1829=) rs1245321190
NM_006031.6(PCNT):c.5496G>A (p.Glu1832=)
NM_006031.6(PCNT):c.5499A>G (p.Leu1833=)
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
NM_006031.6(PCNT):c.5514G>T (p.Leu1838=)
NM_006031.6(PCNT):c.5520C>T (p.Arg1840=)
NM_006031.6(PCNT):c.5522_5523delinsGC (p.Asn1841Ser)
NM_006031.6(PCNT):c.5532C>T (p.Leu1844=)
NM_006031.6(PCNT):c.5538G>A (p.Glu1846=)
NM_006031.6(PCNT):c.5544G>A (p.Glu1848=)
NM_006031.6(PCNT):c.5547C>A (p.Val1849=) rs370410169
NM_006031.6(PCNT):c.5547C>T (p.Val1849=)
NM_006031.6(PCNT):c.5559C>G (p.Ala1853=)
NM_006031.6(PCNT):c.5562C>A (p.Ser1854=)
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5568C>T (p.Ile1856=)
NM_006031.6(PCNT):c.5577C>T (p.Phe1859=)
NM_006031.6(PCNT):c.5586C>A (p.Ala1862=)
NM_006031.6(PCNT):c.5587C>T (p.Leu1863=) rs1602006314
NM_006031.6(PCNT):c.5592A>G (p.Lys1864=)
NM_006031.6(PCNT):c.5601A>G (p.Glu1867=)
NM_006031.6(PCNT):c.5619A>G (p.Arg1873=)
NM_006031.6(PCNT):c.5637T>C (p.Ala1879=)
NM_006031.6(PCNT):c.5655G>A (p.Ala1885=)
NM_006031.6(PCNT):c.5667C>T (p.Ala1889=)
NM_006031.6(PCNT):c.5679C>G (p.Ala1893=)
NM_006031.6(PCNT):c.5682C>T (p.Val1894=)
NM_006031.6(PCNT):c.5718G>A (p.Glu1906=)
NM_006031.6(PCNT):c.573A>C (p.Thr191=)
NM_006031.6(PCNT):c.5745G>A (p.Ala1915=)
NM_006031.6(PCNT):c.5751C>T (p.Pro1917=)
NM_006031.6(PCNT):c.5757G>T (p.Leu1919=) rs2147675654
NM_006031.6(PCNT):c.576A>G (p.Pro192=)
NM_006031.6(PCNT):c.5772G>A (p.Ala1924=)
NM_006031.6(PCNT):c.5772G>T (p.Ala1924=)
NM_006031.6(PCNT):c.5787C>T (p.Leu1929=)
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5808G>A (p.Leu1936=)
NM_006031.6(PCNT):c.5811C>T (p.His1937=)
NM_006031.6(PCNT):c.5820C>T (p.Phe1940=)
NM_006031.6(PCNT):c.582G>A (p.Gln194=)
NM_006031.6(PCNT):c.5839C>T (p.Leu1947=)
NM_006031.6(PCNT):c.5871T>G (p.Ala1957=)
NM_006031.6(PCNT):c.5877A>T (p.Thr1959=)
NM_006031.6(PCNT):c.5886C>G (p.Pro1962=)
NM_006031.6(PCNT):c.5886C>T (p.Pro1962=)
NM_006031.6(PCNT):c.5895C>T (p.His1965=)
NM_006031.6(PCNT):c.5901G>A (p.Gln1967=)
NM_006031.6(PCNT):c.5928C>T (p.Ala1976=)
NM_006031.6(PCNT):c.5943C>T (p.Asp1981=)
NM_006031.6(PCNT):c.5955C>T (p.Ser1985=) rs2147679862
NM_006031.6(PCNT):c.5967T>C (p.Ala1989=)
NM_006031.6(PCNT):c.5968T>C (p.Leu1990=)
NM_006031.6(PCNT):c.5976G>C (p.Pro1992=)
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
NM_006031.6(PCNT):c.5994+11C>A
NM_006031.6(PCNT):c.5994+11C>G
NM_006031.6(PCNT):c.5994+11C>T
NM_006031.6(PCNT):c.5994+13C>T
NM_006031.6(PCNT):c.5994+14G>A
NM_006031.6(PCNT):c.5994+15C>A
NM_006031.6(PCNT):c.5994+15C>T
NM_006031.6(PCNT):c.5994+16G>A
NM_006031.6(PCNT):c.5994+16G>C
NM_006031.6(PCNT):c.5994+20C>A
NM_006031.6(PCNT):c.5994+8C>T
NM_006031.6(PCNT):c.5995-13C>G
NM_006031.6(PCNT):c.5995-16T>C
NM_006031.6(PCNT):c.5995-17_5995-16del
NM_006031.6(PCNT):c.5995-20C>T
NM_006031.6(PCNT):c.5995-5T>C
NM_006031.6(PCNT):c.5995-6G>T
NM_006031.6(PCNT):c.5995-8C>T
NM_006031.6(PCNT):c.6015G>C (p.Leu2005=)
NM_006031.6(PCNT):c.6021G>A (p.Thr2007=)
NM_006031.6(PCNT):c.6036T>C (p.Pro2012=)
NM_006031.6(PCNT):c.6039C>T (p.Leu2013=)
NM_006031.6(PCNT):c.603T>C (p.Ser201=)
NM_006031.6(PCNT):c.6054C>T (p.Gly2018=)
NM_006031.6(PCNT):c.6069C>G (p.Leu2023=)
NM_006031.6(PCNT):c.6069C>T (p.Leu2023=)
NM_006031.6(PCNT):c.6081G>A (p.Gln2027=)
NM_006031.6(PCNT):c.6087G>A (p.Gln2029=)
NM_006031.6(PCNT):c.6111G>A (p.Val2037=) rs1010254011
NM_006031.6(PCNT):c.6126C>T (p.Arg2042=)
NM_006031.6(PCNT):c.6135G>A (p.Leu2045=)
NM_006031.6(PCNT):c.6150+11G>A
NM_006031.6(PCNT):c.6150+11G>T
NM_006031.6(PCNT):c.6150+11_6150+70del rs1569271924
NM_006031.6(PCNT):c.6150+15_6150+135del
NM_006031.6(PCNT):c.6150+16A>G rs1351773151
NM_006031.6(PCNT):c.6150+17A>G
NM_006031.6(PCNT):c.6150+20C>T
NM_006031.6(PCNT):c.6150+21_6150+140del
NM_006031.6(PCNT):c.6150+21_6150+80del
NM_006031.6(PCNT):c.6150+32_6150+33insTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC
NM_006031.6(PCNT):c.6150+44_6150+45insCACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTG
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGTGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
NM_006031.6(PCNT):c.6150+9A>C
NM_006031.6(PCNT):c.6150+9A>T
NM_006031.6(PCNT):c.6150+9del
NM_006031.6(PCNT):c.6151-10T>C
NM_006031.6(PCNT):c.6151-14T>C
NM_006031.6(PCNT):c.6151-15C>G
NM_006031.6(PCNT):c.6151-15C>T
NM_006031.6(PCNT):c.6151-18G>A
NM_006031.6(PCNT):c.6151-4G>A
NM_006031.6(PCNT):c.6151-4G>T
NM_006031.6(PCNT):c.6151-6C>G
NM_006031.6(PCNT):c.6151-7C>T
NM_006031.6(PCNT):c.6162A>G (p.Lys2054=)
NM_006031.6(PCNT):c.6165A>G (p.Val2055=)
NM_006031.6(PCNT):c.6166C>T (p.Leu2056=) rs2147768991
NM_006031.6(PCNT):c.6181C>T (p.Leu2061=)
NM_006031.6(PCNT):c.6186G>A (p.Pro2062=)
NM_006031.6(PCNT):c.6186G>C (p.Pro2062=)
NM_006031.6(PCNT):c.6198C>T (p.Leu2066=)
NM_006031.6(PCNT):c.6225A>G (p.Glu2075=)
NM_006031.6(PCNT):c.6240G>A (p.Leu2080=)
NM_006031.6(PCNT):c.6243G>C (p.Leu2081=)
NM_006031.6(PCNT):c.6258C>T (p.Phe2086=)
NM_006031.6(PCNT):c.6267G>A (p.Val2089=)
NM_006031.6(PCNT):c.6270T>C (p.Asp2090=) rs749943104
NM_006031.6(PCNT):c.6273T>C (p.Ala2091=)
NM_006031.6(PCNT):c.6279C>T (p.Asp2093=)
NM_006031.6(PCNT):c.6291G>A (p.Leu2097=)
NM_006031.6(PCNT):c.6306A>G (p.Ser2102=)
NM_006031.6(PCNT):c.6309A>G (p.Ala2103=)
NM_006031.6(PCNT):c.6315G>C (p.Leu2105=)
NM_006031.6(PCNT):c.6324C>T (p.Ser2108=)
NM_006031.6(PCNT):c.6342C>A (p.Ser2114=)
NM_006031.6(PCNT):c.6345T>C (p.Cys2115=)
NM_006031.6(PCNT):c.6369A>G (p.Ser2123=)
NM_006031.6(PCNT):c.636A>G (p.Thr212=)
NM_006031.6(PCNT):c.6372C>T (p.Pro2124=)
NM_006031.6(PCNT):c.6381C>T (p.Asp2127=)
NM_006031.6(PCNT):c.639+16T>C
NM_006031.6(PCNT):c.639+20T>A
NM_006031.6(PCNT):c.639+8T>C
NM_006031.6(PCNT):c.639+9T>C
NM_006031.6(PCNT):c.640-12T>A
NM_006031.6(PCNT):c.640-4C>T
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6405G>A (p.Thr2135=)
NM_006031.6(PCNT):c.6408G>A (p.Gly2136=)
NM_006031.6(PCNT):c.642G>A (p.Glu214=)
NM_006031.6(PCNT):c.6435G>A (p.Gln2145=)
NM_006031.6(PCNT):c.6438C>T (p.Ala2146=)
NM_006031.6(PCNT):c.6444C>T (p.Asp2148=)
NM_006031.6(PCNT):c.6447G>T (p.Ala2149=)
NM_006031.6(PCNT):c.6462A>G (p.Thr2154=)
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6480T>C (p.Thr2160=)
NM_006031.6(PCNT):c.6489C>A (p.Ile2163=)
NM_006031.6(PCNT):c.6519A>G (p.Glu2173=)
NM_006031.6(PCNT):c.651A>G (p.Gln217=)
NM_006031.6(PCNT):c.6534C>G (p.Pro2178=)
NM_006031.6(PCNT):c.6549A>G (p.Ser2183=)
NM_006031.6(PCNT):c.654A>G (p.Glu218=)
NM_006031.6(PCNT):c.6561C>T (p.Asp2187=)
NM_006031.6(PCNT):c.6570T>C (p.Leu2190=)
NM_006031.6(PCNT):c.6603C>T (p.Arg2201=)
NM_006031.6(PCNT):c.6606C>T (p.His2202=)
NM_006031.6(PCNT):c.6612C>T (p.Ser2204=)
NM_006031.6(PCNT):c.6621A>C (p.Ala2207=)
NM_006031.6(PCNT):c.6630G>A (p.Gly2210=)
NM_006031.6(PCNT):c.6639G>A (p.Lys2213=)
NM_006031.6(PCNT):c.6642C>T (p.Ser2214=)
NM_006031.6(PCNT):c.6651G>A (p.Gly2217=) rs755119869
NM_006031.6(PCNT):c.6660C>T (p.Asp2220=)
NM_006031.6(PCNT):c.6675C>T (p.Ser2225=)
NM_006031.6(PCNT):c.6678C>T (p.Ser2226=)
NM_006031.6(PCNT):c.6690C>T (p.Leu2230=)
NM_006031.6(PCNT):c.6720C>T (p.Pro2240=)
NM_006031.6(PCNT):c.6735A>T (p.Thr2245=)
NM_006031.6(PCNT):c.6741C>T (p.His2247=)
NM_006031.6(PCNT):c.6756C>T (p.Ser2252=)
NM_006031.6(PCNT):c.6762C>T (p.Cys2254=)
NM_006031.6(PCNT):c.676C>T (p.Leu226=)
NM_006031.6(PCNT):c.6780G>C (p.Leu2260=)
NM_006031.6(PCNT):c.6783G>A (p.Gly2261=)
NM_006031.6(PCNT):c.6786C>T (p.Asp2262=)
NM_006031.6(PCNT):c.6801G>A (p.Ser2267=)
NM_006031.6(PCNT):c.6831T>C (p.Leu2277=)
NM_006031.6(PCNT):c.6840A>G (p.Pro2280=)
NM_006031.6(PCNT):c.684C>T (p.Ser228=)
NM_006031.6(PCNT):c.6852A>G (p.Ala2284=)
NM_006031.6(PCNT):c.6858G>A (p.Ala2286=)
NM_006031.6(PCNT):c.6861G>A (p.Leu2287=)
NM_006031.6(PCNT):c.6864A>C (p.Ala2288=)
NM_006031.6(PCNT):c.687C>T (p.Gly229=)
NM_006031.6(PCNT):c.6882T>C (p.Ser2294=)
NM_006031.6(PCNT):c.6888G>T (p.Pro2296=)
NM_006031.6(PCNT):c.6903T>C (p.His2301=)
NM_006031.6(PCNT):c.6915G>A (p.Thr2305=)
NM_006031.6(PCNT):c.6921+13T>C
NM_006031.6(PCNT):c.6921+13T>G
NM_006031.6(PCNT):c.6921+14C>G
NM_006031.6(PCNT):c.6921+20C>T
NM_006031.6(PCNT):c.6922-11T>C
NM_006031.6(PCNT):c.6922-17dup
NM_006031.6(PCNT):c.6922-20A>G
NM_006031.6(PCNT):c.6922-6T>C
NM_006031.6(PCNT):c.6922-7_6922-6del
NM_006031.6(PCNT):c.6922-8_6922-7del
NM_006031.6(PCNT):c.6922-9T>A
NM_006031.6(PCNT):c.6975A>G (p.Leu2325=)
NM_006031.6(PCNT):c.6981A>G (p.Ser2327=)
NM_006031.6(PCNT):c.6981A>T (p.Ser2327=)
NM_006031.6(PCNT):c.6984T>A (p.Pro2328=)
NM_006031.6(PCNT):c.7024+12A>G
NM_006031.6(PCNT):c.7024+19A>G
NM_006031.6(PCNT):c.7024+20T>C
NM_006031.6(PCNT):c.7025-15C>T
NM_006031.6(PCNT):c.7025-16C>T
NM_006031.6(PCNT):c.7025-8G>A
NM_006031.6(PCNT):c.7059G>A (p.Pro2353=) rs149413536
NM_006031.6(PCNT):c.7059G>C (p.Pro2353=)
NM_006031.6(PCNT):c.7062G>A (p.Gly2354=)
NM_006031.6(PCNT):c.7062G>C (p.Gly2354=)
NM_006031.6(PCNT):c.7062G>T (p.Gly2354=)
NM_006031.6(PCNT):c.7071C>G (p.Gly2357=) rs1211115206
NM_006031.6(PCNT):c.708G>T (p.Leu236=)
NM_006031.6(PCNT):c.7131G>A (p.Pro2377=)
NM_006031.6(PCNT):c.7131G>T (p.Pro2377=)
NM_006031.6(PCNT):c.7134G>C (p.Leu2378=)
NM_006031.6(PCNT):c.7137G>A (p.Pro2379=)
NM_006031.6(PCNT):c.7140A>G (p.Glu2380=)
NM_006031.6(PCNT):c.7173C>T (p.His2391=)
NM_006031.6(PCNT):c.7179+11C>T
NM_006031.6(PCNT):c.7179+12del
NM_006031.6(PCNT):c.7179+16G>A
NM_006031.6(PCNT):c.7180-10C>G
NM_006031.6(PCNT):c.7180-17G>A
NM_006031.6(PCNT):c.7180-17G>C
NM_006031.6(PCNT):c.7180-18C>T
NM_006031.6(PCNT):c.7180-5_7180-4insTCCGCC
NM_006031.6(PCNT):c.7180-7G>T
NM_006031.6(PCNT):c.7180-8C>G
NM_006031.6(PCNT):c.7188G>A (p.Leu2396=)
NM_006031.6(PCNT):c.7197G>A (p.Val2399=)
NM_006031.6(PCNT):c.720+10C>T
NM_006031.6(PCNT):c.720+11G>A
NM_006031.6(PCNT):c.720+13G>A
NM_006031.6(PCNT):c.720+15C>T
NM_006031.6(PCNT):c.720+17_720+18inv
NM_006031.6(PCNT):c.720+7C>T
NM_006031.6(PCNT):c.720+8G>A
NM_006031.6(PCNT):c.7203C>T (p.Asp2401=)
NM_006031.6(PCNT):c.721-11C>T
NM_006031.6(PCNT):c.721-17C>A
NM_006031.6(PCNT):c.721-17C>T
NM_006031.6(PCNT):c.721-20A>G
NM_006031.6(PCNT):c.721-4G>A
NM_006031.6(PCNT):c.721-7G>C
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.721-8C>T
NM_006031.6(PCNT):c.721-9C>T
NM_006031.6(PCNT):c.7221G>A (p.Leu2407=)
NM_006031.6(PCNT):c.723C>T (p.Ala241=)
NM_006031.6(PCNT):c.7251C>T (p.Ser2417=)
NM_006031.6(PCNT):c.7284G>A (p.Glu2428=)
NM_006031.6(PCNT):c.7299G>A (p.Ser2433=)
NM_006031.6(PCNT):c.729T>C (p.His243=)
NM_006031.6(PCNT):c.7317G>A (p.Thr2439=) rs759593322
NM_006031.6(PCNT):c.7317G>T (p.Thr2439=)
NM_006031.6(PCNT):c.7320+10G>A
NM_006031.6(PCNT):c.7320+12C>T
NM_006031.6(PCNT):c.7320+14T>G
NM_006031.6(PCNT):c.7320+16C>T
NM_006031.6(PCNT):c.7320+17A>G
NM_006031.6(PCNT):c.7320+20C>T
NM_006031.6(PCNT):c.7321-10C>G
NM_006031.6(PCNT):c.7321-11T>C
NM_006031.6(PCNT):c.7321-13C>T
NM_006031.6(PCNT):c.7321-13_7321-10del
NM_006031.6(PCNT):c.7321-14C>G
NM_006031.6(PCNT):c.7321-17C>G
NM_006031.6(PCNT):c.7321-5T>C
NM_006031.6(PCNT):c.7321-7_7321-4del
NM_006031.6(PCNT):c.7335G>T (p.Ala2445=)
NM_006031.6(PCNT):c.7341C>T (p.Pro2447=)
NM_006031.6(PCNT):c.7344T>C (p.Asp2448=)
NM_006031.6(PCNT):c.735T>C (p.Leu245=)
NM_006031.6(PCNT):c.7360C>T (p.Leu2454=)
NM_006031.6(PCNT):c.7362G>A (p.Leu2454=)
NM_006031.6(PCNT):c.7362G>T (p.Leu2454=)
NM_006031.6(PCNT):c.7371G>A (p.Val2457=)
NM_006031.6(PCNT):c.7380C>A (p.Ala2460=)
NM_006031.6(PCNT):c.7380C>T (p.Ala2460=)
NM_006031.6(PCNT):c.7392G>A (p.Glu2464=)
NM_006031.6(PCNT):c.7434C>T (p.Gly2478=)
NM_006031.6(PCNT):c.7446G>A (p.Gly2482=)
NM_006031.6(PCNT):c.7446G>C (p.Gly2482=) rs1313984367
NM_006031.6(PCNT):c.7461G>T (p.Leu2487=)
NM_006031.6(PCNT):c.7464C>T (p.Leu2488=)
NM_006031.6(PCNT):c.747G>A (p.Ala249=)
NM_006031.6(PCNT):c.747G>T (p.Ala249=)
NM_006031.6(PCNT):c.7482C>A (p.Ile2494=)
NM_006031.6(PCNT):c.7482C>T (p.Ile2494=)
NM_006031.6(PCNT):c.7488T>G (p.Arg2496=)
NM_006031.6(PCNT):c.7494+11G>C
NM_006031.6(PCNT):c.7494+17C>T
NM_006031.6(PCNT):c.7495-14C>T
NM_006031.6(PCNT):c.7495-18G>A
NM_006031.6(PCNT):c.7495-5C>G
NM_006031.6(PCNT):c.7495-7C>T
NM_006031.6(PCNT):c.7495-8G>A
NM_006031.6(PCNT):c.7516C>T (p.Leu2506=)
NM_006031.6(PCNT):c.7530C>G (p.Arg2510=)
NM_006031.6(PCNT):c.7548C>T (p.Ser2516=)
NM_006031.6(PCNT):c.7554G>C (p.Leu2518=)
NM_006031.6(PCNT):c.7569G>A (p.Ala2523=)
NM_006031.6(PCNT):c.7569G>T (p.Ala2523=)
NM_006031.6(PCNT):c.7578C>G (p.Ala2526=)
NM_006031.6(PCNT):c.7581G>A (p.Gln2527=)
NM_006031.6(PCNT):c.7596C>T (p.His2532=) rs2087604880
NM_006031.6(PCNT):c.7614G>A (p.Lys2538=)
NM_006031.6(PCNT):c.7615C>T (p.Leu2539=)
NM_006031.6(PCNT):c.7617G>A (p.Leu2539=)
NM_006031.6(PCNT):c.7635G>A (p.Ala2545=)
NM_006031.6(PCNT):c.7635G>T (p.Ala2545=)
NM_006031.6(PCNT):c.7653G>T (p.Ala2551=)
NM_006031.6(PCNT):c.765C>T (p.Ser255=)
NM_006031.6(PCNT):c.7668G>A (p.Gln2556=)
NM_006031.6(PCNT):c.7674C>T (p.His2558=)
NM_006031.6(PCNT):c.7683C>T (p.Arg2561=)
NM_006031.6(PCNT):c.7690+16T>C
NM_006031.6(PCNT):c.7690+17A>C
NM_006031.6(PCNT):c.7690+17A>G
NM_006031.6(PCNT):c.7690+19A>G
NM_006031.6(PCNT):c.7690+20C>G
NM_006031.6(PCNT):c.7690+8T>C rs2147942558
NM_006031.6(PCNT):c.7691-10T>G
NM_006031.6(PCNT):c.7691-16C>A
NM_006031.6(PCNT):c.7691-16C>G
NM_006031.6(PCNT):c.7691-18T>C
NM_006031.6(PCNT):c.7691-19G>A
NM_006031.6(PCNT):c.7691-19G>C
NM_006031.6(PCNT):c.7691-20T>C
NM_006031.6(PCNT):c.7691-5C>T
NM_006031.6(PCNT):c.7696C>T (p.Leu2566=)
NM_006031.6(PCNT):c.7713A>G (p.Val2571=)
NM_006031.6(PCNT):c.7740C>T (p.Asp2580=)
NM_006031.6(PCNT):c.7779C>T (p.Asn2593=)
NM_006031.6(PCNT):c.777G>A (p.Thr259=)
NM_006031.6(PCNT):c.7782C>T (p.Ser2594=)
NM_006031.6(PCNT):c.780G>A (p.Ala260=)
NM_006031.6(PCNT):c.780G>T (p.Ala260=) rs759573809
NM_006031.6(PCNT):c.7821A>T (p.Arg2607=)
NM_006031.6(PCNT):c.783G>A (p.Gln261=)
NM_006031.6(PCNT):c.7860C>T (p.Ser2620=)
NM_006031.6(PCNT):c.7866G>A (p.Gln2622=)
NM_006031.6(PCNT):c.7875G>A (p.Arg2625=)
NM_006031.6(PCNT):c.7878C>T (p.Ser2626=)
NM_006031.6(PCNT):c.7884C>T (p.Cys2628=)
NM_006031.6(PCNT):c.7887G>A (p.Glu2629=)
NM_006031.6(PCNT):c.7902C>T (p.Val2634=)
NM_006031.6(PCNT):c.790C>T (p.Leu264=)
NM_006031.6(PCNT):c.7913+14C>G
NM_006031.6(PCNT):c.7913+7C>T
NM_006031.6(PCNT):c.7913+9G>T
NM_006031.6(PCNT):c.7914-10C>T
NM_006031.6(PCNT):c.7914-13T>C
NM_006031.6(PCNT):c.7914-15G>A
NM_006031.6(PCNT):c.7914-18T>G
NM_006031.6(PCNT):c.7914-4G>C
NM_006031.6(PCNT):c.7914-8C>T
NM_006031.6(PCNT):c.7917C>T (p.Ser2639=)
NM_006031.6(PCNT):c.7921C>T (p.Leu2641=)
NM_006031.6(PCNT):c.7923G>A (p.Leu2641=)
NM_006031.6(PCNT):c.7938C>T (p.Asn2646=)
NM_006031.6(PCNT):c.7953G>A (p.Ala2651=)
NM_006031.6(PCNT):c.7963C>T (p.Leu2655=)
NM_006031.6(PCNT):c.7965G>A (p.Leu2655=)
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.7986G>A (p.Gly2662=)
NM_006031.6(PCNT):c.7992C>G (p.Ala2664=)
NM_006031.6(PCNT):c.8020C>T (p.Leu2674=)
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8058C>T (p.Ala2686=)
NM_006031.6(PCNT):c.8061G>A (p.Leu2687=)
NM_006031.6(PCNT):c.8064+12T>C
NM_006031.6(PCNT):c.8064+13C>G
NM_006031.6(PCNT):c.8064+14A>G
NM_006031.6(PCNT):c.8064+8G>A
NM_006031.6(PCNT):c.8065-13_8065-12del
NM_006031.6(PCNT):c.8065-15G>T
NM_006031.6(PCNT):c.8065-17A>G
NM_006031.6(PCNT):c.8065-19G>T
NM_006031.6(PCNT):c.8065-9G>C
NM_006031.6(PCNT):c.8076G>A (p.Ala2692=)
NM_006031.6(PCNT):c.8082G>A (p.Leu2694=)
NM_006031.6(PCNT):c.8085G>A (p.Glu2695=)
NM_006031.6(PCNT):c.8121A>G (p.Ala2707=)
NM_006031.6(PCNT):c.8122C>T (p.Leu2708=)
NM_006031.6(PCNT):c.8139G>A (p.Thr2713=)
NM_006031.6(PCNT):c.8160G>A (p.Lys2720=)
NM_006031.6(PCNT):c.8163G>A (p.Glu2721=)
NM_006031.6(PCNT):c.8178C>T (p.His2726=)
NM_006031.6(PCNT):c.8187C>T (p.Cys2729=)
NM_006031.6(PCNT):c.8193C>T (p.Ala2731=)
NM_006031.6(PCNT):c.8196G>A (p.Leu2732=)
NM_006031.6(PCNT):c.8214C>T (p.Ser2738=) rs2147983087
NM_006031.6(PCNT):c.8226G>A (p.Glu2742=)
NM_006031.6(PCNT):c.8229C>T (p.Leu2743=)
NM_006031.6(PCNT):c.8247T>G (p.Ala2749=)
NM_006031.6(PCNT):c.825G>A (p.Thr275=)
NM_006031.6(PCNT):c.8262C>T (p.Thr2754=)
NM_006031.6(PCNT):c.8263C>T (p.Leu2755=)
NM_006031.6(PCNT):c.8269C>T (p.Leu2757=)
NM_006031.6(PCNT):c.8271G>C (p.Leu2757=)
NM_006031.6(PCNT):c.8277G>A (p.Glu2759=)
NM_006031.6(PCNT):c.828A>T (p.Ala276=)
NM_006031.6(PCNT):c.8292G>A (p.Glu2764=)
NM_006031.6(PCNT):c.8301G>A (p.Leu2767=)
NM_006031.6(PCNT):c.8304C>G (p.Thr2768=)
NM_006031.6(PCNT):c.8304C>T (p.Thr2768=)
NM_006031.6(PCNT):c.8322G>A (p.Arg2774=)
NM_006031.6(PCNT):c.8328G>A (p.Gln2776=)
NM_006031.6(PCNT):c.8337C>T (p.Cys2779=)
NM_006031.6(PCNT):c.8364C>T (p.His2788=)
NM_006031.6(PCNT):c.8368C>T (p.Leu2790=)
NM_006031.6(PCNT):c.8391G>A (p.Glu2797=)
NM_006031.6(PCNT):c.8394G>A (p.Lys2798=)
NM_006031.6(PCNT):c.8403G>A (p.Val2801=)
NM_006031.6(PCNT):c.8415A>G (p.Gln2805=)
NM_006031.6(PCNT):c.8418G>C (p.Ala2806=)
NM_006031.6(PCNT):c.8439G>A (p.Gln2813=)
NM_006031.6(PCNT):c.8445C>G (p.Ala2815=)
NM_006031.6(PCNT):c.8445C>T (p.Ala2815=)
NM_006031.6(PCNT):c.8451T>C (p.His2817=)
NM_006031.6(PCNT):c.8475G>A (p.Glu2825=)
NM_006031.6(PCNT):c.8487C>T (p.His2829=)
NM_006031.6(PCNT):c.8508G>A (p.Glu2836=)
NM_006031.6(PCNT):c.852C>T (p.Leu284=)
NM_006031.6(PCNT):c.8535G>A (p.Ser2845=)
NM_006031.6(PCNT):c.8556C>T (p.Thr2852=)
NM_006031.6(PCNT):c.8577C>T (p.Cys2859=)
NM_006031.6(PCNT):c.8598G>A (p.Glu2866=)
NM_006031.6(PCNT):c.8607G>A (p.Ala2869=)
NM_006031.6(PCNT):c.8616G>A (p.Gln2872=)
NM_006031.6(PCNT):c.861G>T (p.Arg287=)
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=) rs774517427
NM_006031.6(PCNT):c.8631G>A (p.Gln2877=)
NM_006031.6(PCNT):c.8637C>T (p.His2879=)
NM_006031.6(PCNT):c.8652G>A (p.Glu2884=)
NM_006031.6(PCNT):c.8673G>A (p.Ala2891=)
NM_006031.6(PCNT):c.8676G>A (p.Arg2892=)
NM_006031.6(PCNT):c.8682C>T (p.Ser2894=)
NM_006031.6(PCNT):c.8685G>A (p.Ala2895=)
NM_006031.6(PCNT):c.8700C>T (p.Ser2900=)
NM_006031.6(PCNT):c.8706G>A (p.Ala2902=)
NM_006031.6(PCNT):c.8709T>C (p.Ala2903=)
NM_006031.6(PCNT):c.8739C>T (p.Asp2913=)
NM_006031.6(PCNT):c.873G>A (p.Glu291=)
NM_006031.6(PCNT):c.8751+10G>A
NM_006031.6(PCNT):c.8751+10G>T
NM_006031.6(PCNT):c.8751+13T>C
NM_006031.6(PCNT):c.8751+19C>T
NM_006031.6(PCNT):c.8752-12T>G
NM_006031.6(PCNT):c.8752-13C>A
NM_006031.6(PCNT):c.8752-18T>G
NM_006031.6(PCNT):c.8752-20C>T
NM_006031.6(PCNT):c.8752-4A>T
NM_006031.6(PCNT):c.8752-5A>T
NM_006031.6(PCNT):c.8752-6C>T
NM_006031.6(PCNT):c.8752-8A>C
NM_006031.6(PCNT):c.8752-8A>G rs765074641
NM_006031.6(PCNT):c.8757A>G (p.Glu2919=)
NM_006031.6(PCNT):c.8758T>C (p.Leu2920=)
NM_006031.6(PCNT):c.879C>T (p.Ala293=)
NM_006031.6(PCNT):c.8856C>T (p.Leu2952=)
NM_006031.6(PCNT):c.8883C>A (p.Ala2961=)
NM_006031.6(PCNT):c.8895G>C (p.Ala2965=)
NM_006031.6(PCNT):c.8905C>A (p.Arg2969=)
NM_006031.6(PCNT):c.8925G>A (p.Leu2975=) rs2148032783
NM_006031.6(PCNT):c.8931G>A (p.Ala2977=)
NM_006031.6(PCNT):c.8937G>A (p.Arg2979=)
NM_006031.6(PCNT):c.8943G>T (p.Arg2981=)
NM_006031.6(PCNT):c.8944C>T (p.Leu2982=)
NM_006031.6(PCNT):c.8946G>C (p.Leu2982=)
NM_006031.6(PCNT):c.8949C>G (p.Leu2983=)
NM_006031.6(PCNT):c.8949C>T (p.Leu2983=)
NM_006031.6(PCNT):c.8958C>T (p.Ala2986=)
NM_006031.6(PCNT):c.8961G>T (p.Arg2987=)
NM_006031.6(PCNT):c.8967C>T (p.Leu2989=)
NM_006031.6(PCNT):c.8979C>T (p.Thr2993=)
NM_006031.6(PCNT):c.8988C>A (p.Ala2996=)
NM_006031.6(PCNT):c.8996+10C>G rs748036380
NM_006031.6(PCNT):c.8996+10C>T
NM_006031.6(PCNT):c.8996+15C>T
NM_006031.6(PCNT):c.8996+8C>G
NM_006031.6(PCNT):c.8997-12T>C
NM_006031.6(PCNT):c.8997-17C>G
NM_006031.6(PCNT):c.8997-20G>A
NM_006031.6(PCNT):c.8997-6T>A
NM_006031.6(PCNT):c.9024T>C (p.Asn3008=)
NM_006031.6(PCNT):c.9043T>C (p.Leu3015=)
NM_006031.6(PCNT):c.9046C>T (p.Leu3016=)
NM_006031.6(PCNT):c.9054G>A (p.Thr3018=)
NM_006031.6(PCNT):c.9060G>A (p.Glu3020=)
NM_006031.6(PCNT):c.9064C>T (p.Leu3022=)
NM_006031.6(PCNT):c.9076T>C (p.Leu3026=)
NM_006031.6(PCNT):c.9078G>A (p.Leu3026=)
NM_006031.6(PCNT):c.9084G>A (p.Arg3028=) rs896784926
NM_006031.6(PCNT):c.9087C>T (p.Pro3029=)
NM_006031.6(PCNT):c.9099+12G>T
NM_006031.6(PCNT):c.9099+15C>T
NM_006031.6(PCNT):c.9099+17C>T
NM_006031.6(PCNT):c.9099+19C>T
NM_006031.6(PCNT):c.9099+7G>A
NM_006031.6(PCNT):c.9100-12C>T
NM_006031.6(PCNT):c.9100-14T>G
NM_006031.6(PCNT):c.9100-17A>C
NM_006031.6(PCNT):c.9100-17_9100-14del
NM_006031.6(PCNT):c.9100-20T>C
NM_006031.6(PCNT):c.9100-9T>G
NM_006031.6(PCNT):c.9111A>G (p.Ala3037=)
NM_006031.6(PCNT):c.9126C>T (p.Phe3042=)
NM_006031.6(PCNT):c.9135G>A (p.Val3045=)
NM_006031.6(PCNT):c.9145C>T (p.Leu3049=)
NM_006031.6(PCNT):c.9165C>T (p.Leu3055=)
NM_006031.6(PCNT):c.9174G>C (p.Ala3058=)
NM_006031.6(PCNT):c.9189C>T (p.Thr3063=)
NM_006031.6(PCNT):c.9198G>A (p.Lys3066=)
NM_006031.6(PCNT):c.9216C>T (p.Ala3072=)
NM_006031.6(PCNT):c.9237G>A (p.Leu3079=)
NM_006031.6(PCNT):c.924G>A (p.Glu308=) rs146178359
NM_006031.6(PCNT):c.9264C>T (p.Cys3088=)
NM_006031.6(PCNT):c.9267C>T (p.Ser3089=)
NM_006031.6(PCNT):c.9270A>C (p.Pro3090=)
NM_006031.6(PCNT):c.9273+15T>C
NM_006031.6(PCNT):c.9273+15_9273+16dup
NM_006031.6(PCNT):c.9273+19C>A
NM_006031.6(PCNT):c.9273+19C>T
NM_006031.6(PCNT):c.9274-20C>T
NM_006031.6(PCNT):c.9274-4A>G
NM_006031.6(PCNT):c.9274-7C>G
NM_006031.6(PCNT):c.9285G>A (p.Arg3095=)
NM_006031.6(PCNT):c.9303C>T (p.Asp3101=)
NM_006031.6(PCNT):c.9306A>G (p.Glu3102=)
NM_006031.6(PCNT):c.9309G>A (p.Thr3103=)
NM_006031.6(PCNT):c.9336A>G (p.Pro3112=)
NM_006031.6(PCNT):c.9339C>T (p.Asp3113=)
NM_006031.6(PCNT):c.933A>C (p.Ala311=)
NM_006031.6(PCNT):c.9342C>G (p.Pro3114=)
NM_006031.6(PCNT):c.9342C>T (p.Pro3114=)
NM_006031.6(PCNT):c.9363C>T (p.Ala3121=)
NM_006031.6(PCNT):c.9366C>T (p.Ser3122=)
NM_006031.6(PCNT):c.9375A>G (p.Ala3125=)
NM_006031.6(PCNT):c.9390C>T (p.Val3130=)
NM_006031.6(PCNT):c.9393+16C>G
NM_006031.6(PCNT):c.9393+16C>T
NM_006031.6(PCNT):c.9393+8C>G
NM_006031.6(PCNT):c.9393+8C>T rs750108017
NM_006031.6(PCNT):c.9393+9G>T
NM_006031.6(PCNT):c.9394-10T>C
NM_006031.6(PCNT):c.9394-17T>C
NM_006031.6(PCNT):c.9394-8T>C
NM_006031.6(PCNT):c.9399A>G (p.Glu3133=)
NM_006031.6(PCNT):c.9405G>A (p.Leu3135=)
NM_006031.6(PCNT):c.9408C>T (p.Tyr3136=)
NM_006031.6(PCNT):c.9411G>A (p.Leu3137=)
NM_006031.6(PCNT):c.942G>A (p.Lys314=)
NM_006031.6(PCNT):c.9450T>A (p.Ile3150=)
NM_006031.6(PCNT):c.9469T>C (p.Leu3157=)
NM_006031.6(PCNT):c.9475T>C (p.Leu3159=)
NM_006031.6(PCNT):c.9477G>A (p.Leu3159=)
NM_006031.6(PCNT):c.9489C>T (p.Phe3163=)
NM_006031.6(PCNT):c.948G>A (p.Glu316=)
NM_006031.6(PCNT):c.9510A>G (p.Thr3170=)
NM_006031.6(PCNT):c.954G>T (p.Val318=)
NM_006031.6(PCNT):c.9564C>A (p.Ile3188=)
NM_006031.6(PCNT):c.9609C>T (p.Val3203=)
NM_006031.6(PCNT):c.9612T>C (p.Ile3204=)
NM_006031.6(PCNT):c.9623+10A>G
NM_006031.6(PCNT):c.9623+14C>T
NM_006031.6(PCNT):c.9623+15G>A
NM_006031.6(PCNT):c.9623+9C>G
NM_006031.6(PCNT):c.9623+9C>T
NM_006031.6(PCNT):c.9624-10T>C
NM_006031.6(PCNT):c.9624-17_9624-13del
NM_006031.6(PCNT):c.9624-4G>C
NM_006031.6(PCNT):c.9627A>G (p.Leu3209=)
NM_006031.6(PCNT):c.9654A>G (p.Glu3218=)
NM_006031.6(PCNT):c.969G>A (p.Gln323=)
NM_006031.6(PCNT):c.9700+11A>T
NM_006031.6(PCNT):c.9700+12G>A
NM_006031.6(PCNT):c.9700+13C>T
NM_006031.6(PCNT):c.9700+14T>A
NM_006031.6(PCNT):c.9700+15G>A
NM_006031.6(PCNT):c.9700+18G>C
NM_006031.6(PCNT):c.9700+8T>A
NM_006031.6(PCNT):c.9701-10T>C
NM_006031.6(PCNT):c.9701-10T>G
NM_006031.6(PCNT):c.9701-19T>G
NM_006031.6(PCNT):c.9701-9C>T
NM_006031.6(PCNT):c.9714A>G (p.Arg3238=)
NM_006031.6(PCNT):c.9720G>T (p.Pro3240=)
NM_006031.6(PCNT):c.9726T>C (p.Ser3242=)
NM_006031.6(PCNT):c.972A>G (p.Glu324=)
NM_006031.6(PCNT):c.9738C>G (p.Thr3246=)
NM_006031.6(PCNT):c.9747C>T (p.Ser3249=)
NM_006031.6(PCNT):c.9750C>A (p.Pro3250=)
NM_006031.6(PCNT):c.9753A>G (p.Pro3251=)
NM_006031.6(PCNT):c.9756C>G (p.Thr3252=)
NM_006031.6(PCNT):c.9757C>A (p.Arg3253=)
NM_006031.6(PCNT):c.9758G>A (p.Arg3253Gln)
NM_006031.6(PCNT):c.9759G>T (p.Arg3253=)
NM_006031.6(PCNT):c.976+12C>T
NM_006031.6(PCNT):c.976+17C>T
NM_006031.6(PCNT):c.976+18G>A
NM_006031.6(PCNT):c.976+19G>A
NM_006031.6(PCNT):c.9768C>T (p.Pro3256=)
NM_006031.6(PCNT):c.977-4G>C
NM_006031.6(PCNT):c.977-4G>T rs2146561875
NM_006031.6(PCNT):c.977-6T>C
NM_006031.6(PCNT):c.9774C>T (p.Gly3258=)
NM_006031.6(PCNT):c.9777C>T (p.His3259=)
NM_006031.6(PCNT):c.9786C>T (p.Asp3262=)
NM_006031.6(PCNT):c.9789T>G (p.Pro3263=)
NM_006031.6(PCNT):c.9801C>T (p.Arg3267=)
NM_006031.6(PCNT):c.9839+14C>T
NM_006031.6(PCNT):c.9839+15T>C
NM_006031.6(PCNT):c.9839+17C>T
NM_006031.6(PCNT):c.9839+18A>G
NM_006031.6(PCNT):c.9839+6dup
NM_006031.6(PCNT):c.9839+7G>T
NM_006031.6(PCNT):c.9839+8T>C
NM_006031.6(PCNT):c.9840-14_9840-13del
NM_006031.6(PCNT):c.9840-15G>C rs564095021
NM_006031.6(PCNT):c.9840-18G>A
NM_006031.6(PCNT):c.9840-8G>T
NM_006031.6(PCNT):c.9840-9T>G
NM_006031.6(PCNT):c.9849A>G (p.Pro3283=)
NM_006031.6(PCNT):c.984G>A (p.Leu328=)
NM_006031.6(PCNT):c.9864A>G (p.Arg3288=)
NM_006031.6(PCNT):c.9865T>C (p.Leu3289=)
NM_006031.6(PCNT):c.9888T>C (p.Ser3296=)
NM_006031.6(PCNT):c.9912A>G (p.Thr3304=)
NM_006031.6(PCNT):c.993G>A (p.Lys331=)
NM_006031.6(PCNT):c.9942G>A (p.Gln3314=)
NM_006031.6(PCNT):c.994T>C (p.Leu332=)
NM_006031.6(PCNT):c.9954A>G (p.Gly3318=)
NM_006031.6(PCNT):c.9957G>C (p.Gly3319=)
NM_006031.6(PCNT):c.9961C>T (p.Leu3321=)
NM_006031.6(PCNT):c.9963A>G (p.Leu3321=)
NM_006031.6(PCNT):c.9967+13C>G
NM_006031.6(PCNT):c.9967+15C>T
NM_006031.6(PCNT):c.9967+16G>A
NM_006031.6(PCNT):c.9967+18C>A
NM_006031.6(PCNT):c.9967+19G>A
NM_006031.6(PCNT):c.9968-18A>C
NM_006031.6(PCNT):c.9968-21_9968-19del
NM_006031.6(PCNT):c.9968-5T>C
NM_006031.6(PCNT):c.9968-6A>G
NM_006031.6(PCNT):c.9972T>C (p.Ser3324=)
NM_006031.6(PCNT):c.9978A>G (p.Ser3326=)
NM_006031.6(PCNT):c.9978A>T (p.Ser3326=) rs749839605
NM_006031.6(PCNT):c.9987C>T (p.Ser3329=)
NM_006031.6(PCNT):c.9993C>T (p.His3331=)
NM_006031.6(PCNT):c.9996G>A (p.Pro3332=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.