ClinVar Miner

List of variants in gene PCNT reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1733
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_006031.6(PCNT):c.4962+232C>T rs149670973 0.03618
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_006031.6(PCNT):c.3312+235T>C rs555084386 0.03290
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_006031.6(PCNT):c.267+163G>A rs78438362 0.01940
NM_006031.6(PCNT):c.4585-240A>G rs113209749 0.01693
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_006031.6(PCNT):c.6150+154G>C rs61501620 0.01252
NM_006031.6(PCNT):c.4791+60A>G rs114466809 0.01183
NM_006031.6(PCNT):c.3841-83G>A rs117669919 0.01176
NM_006031.6(PCNT):c.1937-66C>T rs79886941 0.01101
NM_006031.6(PCNT):c.9839+137G>A rs80055066 0.01087
NM_006031.6(PCNT):c.268-330T>C rs140463648 0.01038
NM_006031.6(PCNT):c.268-323G>A rs150396918 0.00897
NM_006031.6(PCNT):c.1680-236T>A rs74436888 0.00882
NM_006031.6(PCNT):c.3165+81G>C rs114378780 0.00873
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006031.6(PCNT):c.7179+145C>T rs28392898 0.00764
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006031.6(PCNT):c.8997-213G>A rs116074272 0.00754
NM_006031.6(PCNT):c.3464+307C>A rs369695941 0.00736
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.5994+280C>A rs116679786 0.00729
NM_006031.6(PCNT):c.9624-255C>T rs140925430 0.00694
NM_006031.6(PCNT):c.1033-160C>G rs111638784 0.00692
NM_006031.6(PCNT):c.6150+27T>C rs112314119 0.00687
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559 0.00679
NM_006031.6(PCNT):c.7914-5C>T rs114120845 0.00679
NM_006031.6(PCNT):c.3608-31C>T rs7279863 0.00676
NM_006031.6(PCNT):c.5995-170G>A rs116982903 0.00672
NM_006031.6(PCNT):c.7321-66G>A rs146272442 0.00645
NM_006031.6(PCNT):c.54+161C>T rs564785017 0.00640
NM_006031.6(PCNT):c.9100-286C>T rs149599958 0.00626
NM_006031.6(PCNT):c.4217-326T>C rs141725675 0.00623
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006031.6(PCNT):c.2610-268C>T rs181545598 0.00580
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.6922-84G>A rs144548645 0.00570
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.9624-207C>T rs150228456 0.00514
NM_006031.6(PCNT):c.6150+21G>A rs13052786 0.00468
NM_006031.6(PCNT):c.8752-301C>T rs150669896 0.00461
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_006031.6(PCNT):c.9967+104T>G rs140502945 0.00413
NM_006031.6(PCNT):c.977-218C>T rs112527886 0.00401
NM_006031.6(PCNT):c.1680-147C>T rs73907209 0.00398
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.2609+86G>A rs114314706 0.00375
NM_006031.6(PCNT):c.9394-160T>A rs577486720 0.00344
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) rs150704986 0.00341
NM_006031.6(PCNT):c.3607+148C>T rs115675095 0.00338
NM_006031.6(PCNT):c.3608-46G>A rs181343887 0.00336
NM_006031.6(PCNT):c.1936+214G>A rs377682309 0.00333
NM_006031.6(PCNT):c.5994+46C>G rs189197561 0.00332
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_006031.6(PCNT):c.3840+129T>C rs76268945 0.00308
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
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.9274-3C>T rs200348425 0.00242
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_006031.6(PCNT):c.9273+214C>T rs117494675 0.00194
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591 0.00188
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) rs138588682 0.00186
NM_006031.6(PCNT):c.9273+152A>C rs117919923 0.00185
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.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121 0.00148
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
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.3165+41T>A rs137873393 0.00078
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.4675A>T (p.Met1559Leu) rs180775012 0.00074
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.623G>A (p.Arg208His) rs142318247 0.00065
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
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.8702C>T (p.Pro2901Leu) rs150615481 0.00054
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) rs186701249 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.9968-3C>T rs182378192 0.00043
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
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.506G>A (p.Arg169His) rs61735823 0.00032
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.2154G>A (p.Lys718=) rs147878958 0.00028
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.5680G>A (p.Val1894Ile) rs113208348 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.2458C>T (p.Arg820Cys) rs369586175 0.00014
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.7459C>G (p.Leu2487Val) rs201185279 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.5826G>A (p.Arg1942=) rs536281306 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.3749G>A (p.Arg1250Gln) rs202005598 0.00010
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.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006031.6(PCNT):c.5994+4G>A rs781737632 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.1876G>A (p.Val626Ile) rs201507947 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.8959C>T (p.Arg2987Trp) rs587784322 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.6141C>T (p.Asp2047=) rs144445891 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.3108C>T (p.Thr1036=) rs182694054 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.7568C>T (p.Ala2523Val) rs368569999 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.6298A>G (p.Met2100Val) rs777875886 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.4108C>T (p.Arg1370Trp) rs751846963 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.4699C>T (p.Leu1567=) rs770168931 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.5411G>A (p.Arg1804Gln) rs762385391 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.6390T>C (p.Asp2130=) rs1179241242 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+141T>C rs117843059
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.1457-250C>A rs58936150
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.1679+224C>G rs115924763
NM_006031.6(PCNT):c.1679+314GT[3] rs147389000
NM_006031.6(PCNT):c.1680-235_1680-234insTGAG rs59894003
NM_006031.6(PCNT):c.1680-271GT[20] rs72175446
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.2308A>G (p.Met770Val) rs763610190
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.2559G>T (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.2610-297G>T rs115674777
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.268-193C>A rs1021389888
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.3003G>A (p.Leu1001=)
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+135G>T rs114734904
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.3481G>A (p.Ala1161Thr) rs150279909
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>A (p.Val1249=)
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.4174C>T (p.Arg1392Trp)
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.4217-341G>T rs118147673
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.428G>A (p.Arg143His) rs58106867
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.4571C>G (p.Pro1524Arg) rs35513449
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.4585-230T>C rs74788394
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.4602A>G (p.Gln1534=)
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.467_505dup (p.His156_Gln168dup) rs587784306
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.4792-318A>G rs116328527
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>G (p.His1751Gln) rs114799541
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.533A>C (p.Gln178Pro) rs200285580
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+141C>T rs552938132
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.5982C>G (p.Val1994=) rs552463011
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+112G>A rs10222118
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+34G>C rs547655993
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+94G>C rs113205962
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.615A>G (p.Ala205=)
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.6729C>T (p.Pro2243=)
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.6922-5_6922-4insTCTGA rs59957960
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.7180-41G>T rs8128866
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.7691-95A>G rs149884710
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.8889G>A (p.Ser2963=) rs151325202
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+332_8996+333insGC rs1556004505
NM_006031.6(PCNT):c.8996+8C>G
NM_006031.6(PCNT):c.8996+96C>G rs375170457
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.8997-220G>A rs75710283
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.9394-3T>C rs545618955
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=)

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