|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
|
NM_012418.4(FSCN2):c.72del (p.Thr25fs)
|
rs376633374
|
0.00024
|
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
|
NM_018668.5(VPS33B):c.239+5G>A
|
rs372769808
|
0.00003
|
|
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser)
|
rs587783025
|
0.00002
|
|
NM_002899.5(RBP1):c.387_400del (p.Lys131fs)
|
rs587783020
|
0.00002
|
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
|
NM_002335.4(LRP5):c.1697G>A (p.Arg566His)
|
rs587783024
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
|
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)
|
|
|
|
NM_000214.3(JAG1):c.2210del (p.Gly737fs)
|
|
|
|
NM_000214.3(JAG1):c.341del (p.Gly114fs)
|
|
|
|
NM_000214.3(JAG1):c.699_700del (p.Ile233fs)
|
|
|
|
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)
|
|
|
|
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
|
|
|
|
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)
|
|
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
|
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)
|
rs1601747985
|
|
|
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter)
|
rs1601714299
|
|
|
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)
|
rs1601685360
|
|
|
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)
|
rs1601776276
|
|
|
NM_000292.3(PHKA2):c.718-2A>G
|
rs1601763099
|
|
|
NM_000292.3(PHKA2):c.918+1G>A
|
rs1601760689
|
|
|
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)
|
rs1596687577
|
|
|
NM_000294.3(PHKG2):c.783del (p.Ser262fs)
|
rs1372753669
|
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
|
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
|
rs2050437440
|
|
|
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
|
|
|
|
NM_002863.5(PYGL):c.198del (p.Arg67fs)
|
|
|
|
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
|
|
|
|
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
|
|
|
|
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
|
|
|
|
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)
|
rs2146419846
|
|
|
NM_003742.4(ABCB11):c.151-9T>G
|
|
|
|
NM_003742.4(ABCB11):c.2075+3A>G
|
|
|
|
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
|
|
|
|
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
|
|
|
|
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
|
|
|
|
NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)
|
|
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
|
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu)
|
rs587783026
|
|
|
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)
|
|
|
|
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu)
|
rs535922252
|
|
|
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)
|
rs587783019
|
|
|
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs)
|
rs587783012
|
|
|
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)
|
rs587783018
|
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
|
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro)
|
rs587783022
|
|
|
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)
|
rs587783015
|
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|