NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
NM_006432.5(NPC2):c.330G>C (p.Leu110=)
|
rs762424530
|
0.00006
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
NM_006432.5(NPC2):c.30C>T (p.Leu10=)
|
rs142190691
|
0.00005
|
NM_006432.5(NPC2):c.168C>T (p.Ser56=)
|
rs761208847
|
0.00004
|
NM_006432.5(NPC2):c.190+17C>G
|
rs572299295
|
0.00004
|
NM_006432.5(NPC2):c.442-8A>C
|
rs758764082
|
0.00004
|
NM_006432.5(NPC2):c.57C>T (p.Ala19=)
|
rs752818745
|
0.00004
|
NM_006432.5(NPC2):c.216C>T (p.Ala72=)
|
rs773861377
|
0.00003
|
NM_006432.5(NPC2):c.453C>G (p.Leu151=)
|
rs766378122
|
0.00003
|
NM_006432.5(NPC2):c.83-4G>A
|
rs758359849
|
0.00003
|
NM_006432.5(NPC2):c.207C>T (p.Ser69=)
|
rs970173671
|
0.00002
|
NM_006432.5(NPC2):c.45C>A (p.Thr15=)
|
rs1025180543
|
0.00002
|
NM_006432.5(NPC2):c.129C>T (p.Pro43=)
|
rs760668431
|
0.00001
|
NM_006432.5(NPC2):c.150C>T (p.Ser50=)
|
rs2086712392
|
0.00001
|
NM_006432.5(NPC2):c.183C>T (p.Phe61=)
|
rs768296377
|
0.00001
|
NM_006432.5(NPC2):c.190+6dup
|
rs770729278
|
0.00001
|
NM_006432.5(NPC2):c.191-10T>C
|
rs907643924
|
0.00001
|
NM_006432.5(NPC2):c.191-8T>C
|
rs1404077821
|
0.00001
|
NM_006432.5(NPC2):c.222G>A (p.Val74=)
|
rs763523833
|
0.00001
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
NM_006432.5(NPC2):c.312C>T (p.Asp104=)
|
rs751455041
|
0.00001
|
NM_006432.5(NPC2):c.318C>G (p.Thr106=)
|
rs763613633
|
0.00001
|
NM_006432.5(NPC2):c.364-11T>C
|
rs751545027
|
0.00001
|
NM_006432.5(NPC2):c.364-13T>C
|
rs897207821
|
0.00001
|
NM_006432.5(NPC2):c.370C>T (p.Leu124=)
|
rs757968557
|
0.00001
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
NM_006432.5(NPC2):c.429C>A (p.Ile143=)
|
rs528199992
|
0.00001
|
NM_006432.5(NPC2):c.441+9A>G
|
rs372464598
|
0.00001
|
NM_006432.5(NPC2):c.455A>G (p.Ter152=)
|
rs1162911732
|
0.00001
|
NM_006432.5(NPC2):c.63G>A (p.Pro21=)
|
rs1299194959
|
0.00001
|
NM_006432.5(NPC2):c.69G>A (p.Gln23=)
|
rs760160779
|
0.00001
|
NM_006432.5(NPC2):c.82+15C>G
|
rs1261259335
|
0.00001
|
NM_006432.5(NPC2):c.82+7C>T
|
rs771418765
|
0.00001
|
NM_006432.5(NPC2):c.82+9C>T
|
rs553819330
|
0.00001
|
NM_006432.5(NPC2):c.108A>G (p.Glu36=)
|
|
|
NM_006432.5(NPC2):c.10C>T (p.Leu4=)
|
|
|
NM_006432.5(NPC2):c.117G>T (p.Val39=)
|
|
|
NM_006432.5(NPC2):c.120C>T (p.Ser40=)
|
|
|
NM_006432.5(NPC2):c.123A>G (p.Pro41=)
|
|
|
NM_006432.5(NPC2):c.129C>A (p.Pro43=)
|
|
|
NM_006432.5(NPC2):c.132C>A (p.Thr44=)
|
|
|
NM_006432.5(NPC2):c.132C>T (p.Thr44=)
|
|
|
NM_006432.5(NPC2):c.145C>T (p.Leu49=)
|
|
|
NM_006432.5(NPC2):c.15A>G (p.Ala5=)
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
NM_006432.5(NPC2):c.186C>T (p.Thr62=)
|
|
|
NM_006432.5(NPC2):c.190+14G>T
|
|
|
NM_006432.5(NPC2):c.190+16T>C
|
|
|
NM_006432.5(NPC2):c.190+17C>T
|
|
|
NM_006432.5(NPC2):c.191-14T>C
|
|
|
NM_006432.5(NPC2):c.191-18T>C
|
|
|
NM_006432.5(NPC2):c.191-18del
|
|
|
NM_006432.5(NPC2):c.191-4T>A
|
|
|
NM_006432.5(NPC2):c.191-7C>G
|
rs2086689980
|
|
NM_006432.5(NPC2):c.216C>A (p.Ala72=)
|
rs773861377
|
|
NM_006432.5(NPC2):c.216C>G (p.Ala72=)
|
|
|
NM_006432.5(NPC2):c.21A>G (p.Thr7=)
|
rs150211005
|
|
NM_006432.5(NPC2):c.222G>C (p.Val74=)
|
rs763523833
|
|
NM_006432.5(NPC2):c.234G>A (p.Leu78=)
|
|
|
NM_006432.5(NPC2):c.246A>T (p.Pro82=)
|
|
|
NM_006432.5(NPC2):c.258C>T (p.Pro86=)
|
|
|
NM_006432.5(NPC2):c.25C>T (p.Leu9=)
|
rs1033995785
|
|
NM_006432.5(NPC2):c.267G>A (p.Glu89=)
|
|
|
NM_006432.5(NPC2):c.270T>A (p.Pro90=)
|
|
|
NM_006432.5(NPC2):c.276T>C (p.Gly92=)
|
|
|
NM_006432.5(NPC2):c.27G>A (p.Leu9=)
|
rs1362951124
|
|
NM_006432.5(NPC2):c.27G>C (p.Leu9=)
|
rs1362951124
|
|
NM_006432.5(NPC2):c.294C>T (p.Asn98=)
|
|
|
NM_006432.5(NPC2):c.315G>A (p.Lys105=)
|
|
|
NM_006432.5(NPC2):c.318C>T (p.Thr106=)
|
rs763613633
|
|
NM_006432.5(NPC2):c.321T>C (p.Tyr107=)
|
|
|
NM_006432.5(NPC2):c.327C>T (p.Tyr109=)
|
rs2139667951
|
|
NM_006432.5(NPC2):c.342A>G (p.Pro114=)
|
|
|
NM_006432.5(NPC2):c.360C>T (p.Pro120=)
|
|
|
NM_006432.5(NPC2):c.363+13A>G
|
|
|
NM_006432.5(NPC2):c.363+16_363+18del
|
rs747880187
|
|
NM_006432.5(NPC2):c.363+17T>C
|
|
|
NM_006432.5(NPC2):c.363+18T>A
|
|
|
NM_006432.5(NPC2):c.363+20A>G
|
|
|
NM_006432.5(NPC2):c.364-10C>T
|
rs2086648557
|
|
NM_006432.5(NPC2):c.364-20T>C
|
|
|
NM_006432.5(NPC2):c.364-20T>G
|
|
|
NM_006432.5(NPC2):c.364-8T>G
|
rs1352203929
|
|
NM_006432.5(NPC2):c.36G>A (p.Ala12=)
|
|
|
NM_006432.5(NPC2):c.372G>C (p.Leu124=)
|
rs2139664545
|
|
NM_006432.5(NPC2):c.375G>A (p.Val125=)
|
rs2139664539
|
|
NM_006432.5(NPC2):c.393G>A (p.Gln131=)
|
|
|
NM_006432.5(NPC2):c.39C>G (p.Leu13=)
|
|
|
NM_006432.5(NPC2):c.414C>T (p.Leu138=)
|
|
|
NM_006432.5(NPC2):c.441+10T>C
|
|
|
NM_006432.5(NPC2):c.441+13G>A
|
|
|
NM_006432.5(NPC2):c.441+13G>T
|
|
|
NM_006432.5(NPC2):c.441+16G>T
|
|
|
NM_006432.5(NPC2):c.441+17G>C
|
|
|
NM_006432.5(NPC2):c.441+8T>C
|
|
|
NM_006432.5(NPC2):c.441+9A>T
|
rs372464598
|
|
NM_006432.5(NPC2):c.442-10A>G
|
|
|
NM_006432.5(NPC2):c.442-13A>G
|
|
|
NM_006432.5(NPC2):c.442-17G>A
|
|
|
NM_006432.5(NPC2):c.442-17G>C
|
|
|
NM_006432.5(NPC2):c.442-4A>G
|
rs114950106
|
|
NM_006432.5(NPC2):c.442-8A>G
|
|
|
NM_006432.5(NPC2):c.442-9C>T
|
|
|
NM_006432.5(NPC2):c.453C>T (p.Leu151=)
|
rs766378122
|
|
NM_006432.5(NPC2):c.51C>A (p.Ala17=)
|
rs1260452199
|
|
NM_006432.5(NPC2):c.54G>A (p.Gln18=)
|
|
|
NM_006432.5(NPC2):c.72C>T (p.Phe24=)
|
|
|
NM_006432.5(NPC2):c.82+10A>C
|
|
|
NM_006432.5(NPC2):c.82+12G>A
|
|
|
NM_006432.5(NPC2):c.82+13C>A
|
|
|
NM_006432.5(NPC2):c.82+15C>A
|
|
|
NM_006432.5(NPC2):c.82+15C>T
|
|
|
NM_006432.5(NPC2):c.82+16G>A
|
|
|
NM_006432.5(NPC2):c.82+6dup
|
rs2139676497
|
|
NM_006432.5(NPC2):c.82+8C>G
|
|
|
NM_006432.5(NPC2):c.83-11T>C
|
|
|
NM_006432.5(NPC2):c.83-15A>G
|
rs1405062063
|
|
NM_006432.5(NPC2):c.83-19A>G
|
rs2139670208
|
|
NM_006432.5(NPC2):c.83-20A>G
|
|
|
NM_006432.5(NPC2):c.83-5T>C
|
|
|
NM_006432.5(NPC2):c.83-8T>G
|
|
|
NM_006432.5(NPC2):c.9C>T (p.Phe3=)
|
rs1300524708
|
|