NM_004646.4(NPHS1):c.-340G>C
|
rs1137844
|
0.25138
|
NM_004646.3(NPHS1):c.-170T>C
|
rs401824
|
0.16554
|
NM_004646.4(NPHS1):c.-81C>G
|
rs73928331
|
0.07300
|
NM_004646.4(NPHS1):c.59-5C>G
|
rs114595892
|
0.01945
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00456
|
NM_004646.4(NPHS1):c.-140G>A
|
rs79692855
|
0.00423
|
NM_004646.4(NPHS1):c.-57G>T
|
rs140404523
|
0.00403
|
NM_004646.4(NPHS1):c.59-19C>A
|
rs115350784
|
0.00214
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_004646.4(NPHS1):c.151C>T (p.Leu51=)
|
rs114385015
|
0.00057
|
NM_004646.4(NPHS1):c.246G>A (p.Arg82=)
|
rs369681703
|
0.00042
|
NM_004646.4(NPHS1):c.14C>T (p.Thr5Met)
|
rs191850409
|
0.00026
|
NM_004646.4(NPHS1):c.219C>T (p.Pro73=)
|
rs115599462
|
0.00026
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
NM_004646.4(NPHS1):c.126G>T (p.Thr42=)
|
rs145683325
|
0.00022
|
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys)
|
rs375670819
|
0.00006
|
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr)
|
rs376793744
|
0.00006
|
NM_004646.4(NPHS1):c.182C>T (p.Ala61Val)
|
rs116620503
|
0.00005
|
NM_004646.4(NPHS1):c.274+7G>A
|
rs375552437
|
0.00004
|
NM_004646.4(NPHS1):c.177C>A (p.Gly59=)
|
rs747108392
|
0.00003
|
NM_004646.4(NPHS1):c.216C>A (p.Gly72=)
|
rs764300734
|
0.00003
|
NM_004646.4(NPHS1):c.243G>A (p.Pro81=)
|
rs116288626
|
0.00003
|
NM_004646.4(NPHS1):c.58+7G>C
|
rs1315632845
|
0.00003
|
NM_004646.4(NPHS1):c.87C>T (p.Ser29=)
|
rs544235158
|
0.00003
|
NM_004646.4(NPHS1):c.59-15G>A
|
rs758002457
|
0.00002
|
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)
|
rs1450477596
|
0.00001
|
NM_004646.4(NPHS1):c.144A>C (p.Ser48=)
|
rs775477921
|
0.00001
|
NM_004646.4(NPHS1):c.18G>A (p.Thr6=)
|
rs370650840
|
0.00001
|
NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys)
|
rs1168071834
|
0.00001
|
NM_004646.4(NPHS1):c.44G>A (p.Gly15Glu)
|
rs373782564
|
0.00001
|
NM_004646.4(NPHS1):c.84C>T (p.Ala28=)
|
rs763497264
|
0.00001
|
NM_004646.4(NPHS1):c.-260G>A
|
rs200937871
|
|
NM_004646.4(NPHS1):c.-261del
|
rs10566018
|
|
NM_004646.4(NPHS1):c.-262_-261del
|
rs10566018
|
|
NM_004646.4(NPHS1):c.-263_-261del
|
rs10566018
|
|
NM_004646.4(NPHS1):c.-387G>A
|
rs75343898
|
|
NM_004646.4(NPHS1):c.-489GA[10]
|
rs139954720
|
|
NM_004646.4(NPHS1):c.103del (p.Trp35fs)
|
|
|
NM_004646.4(NPHS1):c.104G>A (p.Trp35Ter)
|
|
|
NM_004646.4(NPHS1):c.108C>A (p.Ala36=)
|
|
|
NM_004646.4(NPHS1):c.123G>C (p.Leu41=)
|
rs2146832792
|
|
NM_004646.4(NPHS1):c.129G>A (p.Val43=)
|
rs2146832776
|
|
NM_004646.4(NPHS1):c.129G>C (p.Val43=)
|
rs2146832776
|
|
NM_004646.4(NPHS1):c.12G>A (p.Gly4=)
|
rs2146833569
|
|
NM_004646.4(NPHS1):c.12del (p.Thr5fs)
|
|
|
NM_004646.4(NPHS1):c.133G>A (p.Glu45Lys)
|
|
|
NM_004646.4(NPHS1):c.134_135del (p.Glu45fs)
|
|
|
NM_004646.4(NPHS1):c.135G>A (p.Glu45=)
|
|
|
NM_004646.4(NPHS1):c.138G>A (p.Gly46=)
|
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.141C>T (p.Ala47=)
|
|
|
NM_004646.4(NPHS1):c.153G>A (p.Leu51=)
|
rs771294699
|
|
NM_004646.4(NPHS1):c.155G>A (p.Arg52His)
|
|
|
NM_004646.4(NPHS1):c.156T>C (p.Arg52=)
|
|
|
NM_004646.4(NPHS1):c.15G>A (p.Thr5=)
|
rs1047757821
|
|
NM_004646.4(NPHS1):c.162G>A (p.Gly54=)
|
|
|
NM_004646.4(NPHS1):c.163_164insA (p.Val55fs)
|
|
|
NM_004646.4(NPHS1):c.165C>T (p.Val55=)
|
|
|
NM_004646.4(NPHS1):c.171C>A (p.Thr57=)
|
rs2146832649
|
|
NM_004646.4(NPHS1):c.174T>C (p.Pro58=)
|
|
|
NM_004646.4(NPHS1):c.177C>G (p.Gly59=)
|
rs747108392
|
|
NM_004646.4(NPHS1):c.17C>T (p.Thr6Met)
|
|
|
NM_004646.4(NPHS1):c.183G>A (p.Ala61=)
|
rs779563002
|
|
NM_004646.4(NPHS1):c.18G>T (p.Thr6=)
|
rs370650840
|
|
NM_004646.4(NPHS1):c.204G>A (p.Gly68=)
|
rs2146832516
|
|
NM_004646.4(NPHS1):c.205C>T (p.Leu69=)
|
rs2146832511
|
|
NM_004646.4(NPHS1):c.207G>A (p.Leu69=)
|
rs780892794
|
|
NM_004646.4(NPHS1):c.210C>T (p.Leu70=)
|
|
|
NM_004646.4(NPHS1):c.212T>C (p.Leu71Pro)
|
rs1568457698
|
|
NM_004646.4(NPHS1):c.212del (p.Leu71fs)
|
|
|
NM_004646.4(NPHS1):c.216C>T (p.Gly72=)
|
|
|
NM_004646.4(NPHS1):c.225C>G (p.Pro75=)
|
|
|
NM_004646.4(NPHS1):c.225del (p.Arg76fs)
|
|
|
NM_004646.4(NPHS1):c.234A>C (p.Pro78=)
|
|
|
NM_004646.4(NPHS1):c.240C>T (p.Phe80=)
|
rs2146832398
|
|
NM_004646.4(NPHS1):c.243G>C (p.Pro81=)
|
rs116288626
|
|
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)
|
rs386833914
|
|
NM_004646.4(NPHS1):c.249C>T (p.Tyr83=)
|
rs772222126
|
|
NM_004646.4(NPHS1):c.264C>A (p.Asp88Glu)
|
|
|
NM_004646.4(NPHS1):c.267T>C (p.Pro89=)
|
rs1973259005
|
|
NM_004646.4(NPHS1):c.274+11A>C
|
|
|
NM_004646.4(NPHS1):c.274+2T>A
|
|
|
NM_004646.4(NPHS1):c.274+9T>C
|
|
|
NM_004646.4(NPHS1):c.275-15C>T
|
|
|
NM_004646.4(NPHS1):c.27T>G (p.Ala9=)
|
|
|
NM_004646.4(NPHS1):c.2T>C (p.Met1Thr)
|
|
|
NM_004646.4(NPHS1):c.33C>A (p.Leu11=)
|
|
|
NM_004646.4(NPHS1):c.42G>T (p.Leu14=)
|
rs2146833432
|
|
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)
|
rs1555764281
|
|
NM_004646.4(NPHS1):c.46C>T (p.Leu16=)
|
|
|
NM_004646.4(NPHS1):c.48G>A (p.Leu16=)
|
|
|
NM_004646.4(NPHS1):c.48G>C (p.Leu16=)
|
|
|
NM_004646.4(NPHS1):c.58+13C>T
|
|
|
NM_004646.4(NPHS1):c.58+15A>C
|
|
|
NM_004646.4(NPHS1):c.58+2T>C
|
rs1973271240
|
|
NM_004646.4(NPHS1):c.58+3G>T
|
|
|
NM_004646.4(NPHS1):c.59-10G>A
|
rs1337702956
|
|
NM_004646.4(NPHS1):c.59-13G>A
|
|
|
NM_004646.4(NPHS1):c.59-14C>T
|
|
|
NM_004646.4(NPHS1):c.59-16C>A
|
|
|
NM_004646.4(NPHS1):c.59-16C>T
|
|
|
NM_004646.4(NPHS1):c.59-16del
|
|
|
NM_004646.4(NPHS1):c.59-18A>G
|
|
|
NM_004646.4(NPHS1):c.60C>A (p.Gly20=)
|
|
|
NM_004646.4(NPHS1):c.63G>A (p.Leu21=)
|
|
|
NM_004646.4(NPHS1):c.66G>A (p.Ala22=)
|
rs750193555
|
|
NM_004646.4(NPHS1):c.74C>T (p.Ala25Val)
|
|
|
NM_004646.4(NPHS1):c.75G>A (p.Ala25=)
|
rs774473854
|
|
NM_004646.4(NPHS1):c.75G>C (p.Ala25=)
|
rs774473854
|
|
NM_004646.4(NPHS1):c.7C>A (p.Leu3Met)
|
|
|
NM_004646.4(NPHS1):c.81T>G (p.Pro27=)
|
|
|
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe)
|
rs1339541913
|
|
NM_004646.4(NPHS1):c.87C>A (p.Ser29=)
|
|
|
NM_004646.4(NPHS1):c.87C>G (p.Ser29=)
|
rs544235158
|
|
NM_004646.4(NPHS1):c.90del (p.Arg32fs)
|
rs1321939270
|
|
NM_004646.4(NPHS1):c.94C>T (p.Arg32Trp)
|
|
|
NM_004646.4(NPHS1):c.99C>G (p.Gly33=)
|
rs1237846687
|
|