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.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.87C>T (p.Ser29=)
|
rs544235158
|
0.00003
|
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)
|
rs1450477596
|
0.00001
|
NM_004646.4(NPHS1):c.18G>A (p.Thr6=)
|
rs370650840
|
0.00001
|
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser)
|
rs386833897
|
0.00001
|
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)
|
rs752777463
|
0.00001
|
NM_004646.4(NPHS1):c.250C>T (p.Arg84Cys)
|
rs1168071834
|
0.00001
|
NM_004646.4(NPHS1):c.58+1G>A
|
rs386833954
|
0.00001
|
NM_004646.4(NPHS1):c.-489GA[10]
|
rs139954720
|
|
NM_004646.4(NPHS1):c.-489GA[7]
|
rs139954720
|
|
NM_004646.4(NPHS1):c.109dup (p.Leu37fs)
|
|
|
NM_004646.4(NPHS1):c.10G>A (p.Gly4Arg)
|
rs1338229781
|
|
NM_004646.4(NPHS1):c.133dup (p.Glu45fs)
|
|
|
NM_004646.4(NPHS1):c.139del (p.Ala47fs)
|
rs386833882
|
|
NM_004646.4(NPHS1):c.146T>G (p.Val49Gly)
|
rs1973263497
|
|
NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)
|
|
|
NM_004646.4(NPHS1):c.163del (p.Val55fs)
|
|
|
NM_004646.4(NPHS1):c.173del (p.Pro58fs)
|
|
|
NM_004646.4(NPHS1):c.174del (p.Gly59fs)
|
rs1057516942
|
|
NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs)
|
|
|
NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs)
|
|
|
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter)
|
|
|
NM_004646.4(NPHS1):c.233dup (p.Gly79fs)
|
|
|
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter)
|
rs386833914
|
|
NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)
|
rs772222126
|
|
NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs)
|
|
|
NM_004646.4(NPHS1):c.41T>C (p.Leu14Pro)
|
rs1060499706
|
|
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs)
|
rs1555764281
|
|
NM_004646.4(NPHS1):c.45del (p.Leu16fs)
|
rs1555764281
|
|
NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer)
|
|
|
NM_004646.4(NPHS1):c.58+1G>T
|
rs386833954
|
|
NM_004646.4(NPHS1):c.59-1G>T
|
|
|
NM_004646.4(NPHS1):c.67del (p.Gln23fs)
|
|
|
NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter)
|
|
|
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe)
|
rs1339541913
|
|
NM_004646.4(NPHS1):c.94del (p.Arg32fs)
|
|
|