MD Variants page - MobiDetails

USH2A - NM_206933.2:c.2276G>T - p.(Cys759Phe) davidbaux - 2019-11-19

USH2A - NM_206933.2:c.2299del - p.(Glu767SerfsTer21) davidbaux - 2019-11-19

USH2A - NM_206933.2:c.653T>A - p.(Val218Glu) davidbaux - 2019-11-25

USH2A - NM_206933.2:c.3831_3834delinsG - p.(Leu1278del) davidbaux - 2019-12-10

USH2A - NM_206933.2:c.920_923dup - p.(His308GlnfsTer16) mobidetails - 2019-12-10

USH2A - NM_206933.2:c.5776+1G>A - p.(?) mobidetails - 2019-12-10

CLRN1 - NM_174878.2:c.401C>T - p.(Pro134Leu) davidbaux - 2020-04-23

ADGRV1 - NM_032119.3:c.13893+1_13893+2dup - p.(?) davidbaux - 2020-06-22

USH2A - NM_206933.2:c.4646G>C - p.(Arg1549Pro) davidbaux - 2020-12-17

USH2A - NM_206933.2:c.1036A>C - p.(Asn346His) davidbaux - 2020-12-29

USH2A - NM_206933.2:c.14134-3169A>G - p.(?) davidbaux - 2020-06-03

CDH23 - NM_022124.5:c.7823G>A - p.(Arg2608His) davidbaux - 2020-07-29

USH2A - NM_206933.2:c.4885+375A>G - p.(?) davidbaux - 2021-01-08

USH2A - NM_206933.2:c.13268C>A - p.(Ala4423Asp) davidbaux - 2021-03-04

MYO7A - NM_000260.3:c.843G>T - p.(Leu281Phe) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1606T>C - p.(Cys536Arg) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14131C>T - p.(Gln4711Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.4670T>C - p.(Ile1557Thr) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12505A>C - p.(Thr4169Pro) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11548+2T>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14787del - p.(Glu4930AsnfsTer20) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1256G>T - p.(Cys419Phe) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.15089C>A - p.(Ser5030Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.6919C>T - p.(Gln2307Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.8190_8193dup - p.(Val2732CysfsTer26) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14766del - p.(Trp4922Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14791+4A>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11864G>A - p.(Trp3955Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13811+2T>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11712-1G>A - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13010C>T - p.(Thr4337Met) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9345_9346del - p.(Pro3116HisfsTer13) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9799T>C - p.(Cys3267Arg) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12067-2A>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2168-1G>C - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.4474G>T - p.(Glu1492Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11389+2dup - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14803C>T - p.(Arg4935Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10759C>T - p.(Gln3587Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1841-2A>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11831C>A - p.(Ala3944Asp) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1416_1441del - p.(Asn472LysfsTer17) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11875_11876del - p.(Gln3959AsnfsTer53) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12868C>T - p.(Gln4290Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9424G>T - p.(Gly3142Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12863C>T - p.(Pro4288Leu) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.8890dup - p.(Trp2964LeufsTer89) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10684G>T - p.(Glu3562Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13700del - p.(Leu4567ProfsTer16) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.651+1G>A - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.821G>A - p.(Arg274Gln) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9815C>T - p.(Pro3272Leu) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2149T>G - p.(Cys717Gly) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2431A>T - p.(Lys811Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.6926G>T - p.(Cys2309Phe) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1055C>T - p.(Thr352Ile) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.4429G>T - p.(Gly1477Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.15053-2A>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.949C>A - p.(Arg317=) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1876C>T - p.(Arg626Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11534A>C - p.(Gln3845Pro) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.5399G>A - p.(Trp1800Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.8891G>A - p.(Trp2964Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12419G>T - p.(Cys4140Phe) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13954del - p.(Thr4652LeufsTer26) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13971G>A - p.(Trp4657Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14273C>G - p.(Pro4758Arg) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10183-2A>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14204C>G - p.(Pro4735Arg) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13316C>T - p.(Thr4439Ile) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.8167C>T - p.(Arg2723Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1612T>C - p.(Cys538Arg) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.15403del - p.(Thr5135ProfsTer23) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.848+1G>C - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2958del - p.(Asp987ThrfsTer24) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.5728C>T - p.(Gln1910Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.907C>A - p.(Arg303Ser) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.3063T>A - p.(Cys1021Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11566del - p.(Ser3856ValfsTer28) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10712C>T - p.(Thr3571Met) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.975dup - p.(Asp326ArgfsTer4) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.5329C>T - p.(Arg1777Trp) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1608C>A - p.(Cys536Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10334C>A - p.(Ser3445Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9449G>A - p.(Trp3150Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13207_13208del - p.(Gly4403ProfsTer15) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.11241C>G - p.(Tyr3747Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13576C>T - p.(Arg4526Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.13481A>G - p.(Tyr4494Cys) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9258+1G>A - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10576C>T - p.(Gln3526Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.14225_14232dup - p.(Val4745ArgfsTer4) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2167+5G>A - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.545_546del - p.(Lys182ArgfsTer33) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.9852del - p.(Arg3285GlyfsTer16) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.10190_10191del - p.(Lys3397ArgfsTer20) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.5400G>T - p.(Trp1800Cys) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.7595-3C>G - p.(?) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.8231G>A - p.(Trp2744Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.194del - p.(Thr65IlefsTer80) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.1724G>A - p.(Cys575Tyr) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.775_776del - p.(Ser259PhefsTer63) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.12302_12304del - p.(Asn4101del) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.4356T>A - p.(Cys1452Ter) davidbaux - 2021-08-04

USH2A - NM_206933.2:c.2149T>A - p.(Cys717Ser) davidbaux - 2021-08-04

ADGRV1 - NM_032119.3:c.5944dup - p.(Ser1982PhefsTer2) davidbaux - 2021-08-05

USH1G - NM_173477.4:c.800G>A - p.(Trp267Ter) davidbaux - 2021-08-05

MYO7A - NM_000260.3:c.3503G>A - p.(Arg1168Gln) davidbaux - 2021-08-05

ADGRV1 - NM_032119.3:c.10975-2A>G - p.(?) davidbaux - 2021-08-05

CDH23 - NM_022124.5:c.5647A>C - p.(Asn1883His) davidbaux - 2021-08-05

USH1C - NM_153676.3:c.2486G>A - p.(Gly829Asp) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.8232G>A - p.(Trp2744Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.1751G>T - p.(Cys584Phe) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.13927C>T - p.(Gln4643Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.4732C>T - p.(Arg1578Cys) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.10636G>A - p.(Gly3546Arg) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.3932C>A - p.(Ser1311Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.9304C>T - p.(Gln3102Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.3129dup - p.(Val1044CysfsTer35) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.6485+1G>A - p.(?) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.1450C>T - p.(Gln484Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.8917_8918del - p.(Leu2973LysfsTer79) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.10740+1_10740+10del - p.(?) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.2809+1G>A - p.(?) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.5298+5G>A - p.(?) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.6957+5G>A - p.(?) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.15380del - p.(Pro5127ArgfsTer8) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.14426C>T - p.(Thr4809Ile) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.9274del - p.(Ile3092TyrfsTer5) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.13374del - p.(Glu4458AspfsTer3) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.12845T>C - p.(Leu4282Pro) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.187C>T - p.(Arg63Ter) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.5153A>C - p.(Gln1718Pro) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.6317_6318del - p.(Thr2106SerfsTer51) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.8972_8973del - p.(Thr2991ArgfsTer61) davidbaux - 2021-08-05

USH2A - NM_206933.2:c.13274C>T - p.(Thr4425Met) davidbaux - 2020-01-14

USH2A - NM_206933.2:c.7595-2144A>G - p.(?) mobidetails - 2020-04-06

PDZD7 - NM_001195263.1:c.206T>C - p.(Leu69Pro) davidbaux - 2020-06-19

USH2A - NM_206933.2:c.12574C>T - p.(Arg4192Cys) davidbaux - 2020-10-30

USH2A - NM_206933.2:c.4385C>T - p.(Thr1462Ile) davidbaux - 2021-04-26