| 1 | g.215817082T>A | CA344824759 | USH2A | c.9485A>T (p.Asp3162Val)
| |
| 1 | g.215817082T>C | CA344824746 | USH2A | c.9485A>G (p.Asp3162Gly)
| |
| 1 | g.215817082T>G | CA344824752 | USH2A | c.9485A>C (p.Asp3162Ala)
| |
| 1 | g.215817083C>A | CA344824763 | USH2A | c.9484G>T (p.Asp3162Tyr)
| |
| 1 | g.215817083C= | CA1220434323 | USH2A | c.9484G= (p.Asp3162=)
| |
| 1 | g.215817083C>G | CA344824767 | USH2A | c.9484G>C (p.Asp3162His)
| |
| 1 | g.215817083C>T | CA37428059 | USH2A | c.9484G>A (p.Asp3162Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817084C>A | CA344824771 | USH2A | c.9483G>T (p.Gln3161His)
| |
| 1 | g.215817084C>G | CA344824774 | USH2A | c.9483G>C (p.Gln3161His)
| |
| 1 | g.215817084C>T | CA423308808 | USH2A | c.9483G>A (p.Gln3161=)
| ClinVar gnomAD v4 |
| 1 | g.215817085T>A | CA344824793 | USH2A | c.9482A>T (p.Gln3161Leu)
| |
| 1 | g.215817085T>C | CA344824780 | USH2A | c.9482A>G (p.Gln3161Arg)
| |
| 1 | g.215817085T>G | CA344824777 | USH2A | c.9482A>C (p.Gln3161Pro)
| gnomAD v4 |
| 1 | g.215817086G>A | CA344824797 | USH2A | c.9481C>T (p.Gln3161Ter)
| |
| 1 | g.215817086G>C | CA344824798 | USH2A | c.9481C>G (p.Gln3161Glu)
| |
| 1 | g.215817086G>T | CA344824799 | USH2A | c.9481C>A (p.Gln3161Lys)
| |
| 1 | g.215817087C>A | CA423308819 | USH2A | c.9480G>T (p.Val3160=)
| |
| 1 | g.215817087C>G | CA423308821 | USH2A | c.9480G>C (p.Val3160=)
| |
| 1 | g.215817087C>T | CA423308823 | USH2A | c.9480G>A (p.Val3160=)
| gnomAD v4 |
| 1 | g.215817088A= | CA1220434324 | USH2A | c.9479T= (p.Val3160=)
| |
| 1 | g.215817088A>C | CA344824800 | USH2A | c.9479T>G (p.Val3160Gly)
| |
| 1 | g.215817088A>G | CA344824803 | USH2A | c.9479T>C (p.Val3160Ala)
| |
| 1 | g.215817088A>T | CA1394304 | USH2A | c.9479T>A (p.Val3160Glu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817089C>A | CA344824815 | USH2A | c.9478G>T (p.Val3160Leu)
| |
| 1 | g.215817089C= | CA1220434325 | USH2A | c.9478G= (p.Val3160=)
| |
| 1 | g.215817089C>G | CA344824812 | USH2A | c.9478G>C (p.Val3160Leu)
| |
| 1 | g.215817089C>T | CA344824814 | USH2A | c.9478G>A (p.Val3160Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817090T>A | CA344824816 | USH2A | c.9477A>T (p.Leu3159Phe)
| |
| 1 | g.215817090T>C | CA423308830 | USH2A | c.9477A>G (p.Leu3159=)
| |
| 1 | g.215817090T>G | CA344824818 | USH2A | c.9477A>C (p.Leu3159Phe)
| |
| 1 | g.215817091A>C | CA344824820 | USH2A | c.9476T>G (p.Leu3159Ter)
| |
| 1 | g.215817091A>G | CA344824821 | USH2A | c.9476T>C (p.Leu3159Ser)
| |
| 1 | g.215817091A>T | CA344824824 | USH2A | c.9476T>A (p.Leu3159Ter)
| |
| 1 | g.215817092A>C | CA344824826 | USH2A | c.9475T>G (p.Leu3159Val)
| gnomAD v4 |
| 1 | g.215817092A>G | CA423308839 | USH2A | c.9475T>C (p.Leu3159=)
| |
| 1 | g.215817092A>T | CA344824827 | USH2A | c.9475T>A (p.Leu3159Ile)
| |
| 1 | g.215817093C>A | CA344824833 | USH2A | c.9474G>T (p.Lys3158Asn)
| |
| 1 | g.215817093C= | CA1220434326 | USH2A | c.9474G= (p.Lys3158=)
| |
| 1 | g.215817093C>G | CA344824835 | USH2A | c.9474G>C (p.Lys3158Asn)
| dbSNP gnomAD v4 |
| 1 | g.215817093C>T | CA423308853 | USH2A | c.9474G>A (p.Lys3158=)
| |
| 1 | g.215817094T>A | CA344824840 | USH2A | c.9473A>T (p.Lys3158Met)
| |
| 1 | g.215817094T>C | CA1394305 | USH2A | c.9473A>G (p.Lys3158Arg)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817094T>G | CA344824845 | USH2A | c.9473A>C (p.Lys3158Thr)
| |
| 1 | g.215817094T= | CA1220434327 | USH2A | c.9473A= (p.Lys3158=)
| |
| 1 | g.215817097del | CA2499214470 | USH2A | c.9473del (p.Lys3158SerfsTer2)
| ClinVar dbSNP |
| 1 | g.215817095T>A | CA344824850 | USH2A | c.9472A>T (p.Lys3158Ter)
| |
| 1 | g.215817095T>C | CA344824855 | USH2A | c.9472A>G (p.Lys3158Glu)
| |
| 1 | g.215817095T>G | CA344824852 | USH2A | c.9472A>C (p.Lys3158Gln)
| |
| 1 | g.215817096T>A | CA344824857 | USH2A | c.9471A>T (p.Gln3157His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>C | CA423308862 | USH2A | c.9471A>G (p.Gln3157=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>G | CA344824859 | USH2A | c.9471A>C (p.Gln3157His)
| |
| 1 | g.215817096T= | CA1220434328 | USH2A | c.9471A= (p.Gln3157=)
| |
| 1 | g.215817097T>A | CA344824863 | USH2A | c.9470A>T (p.Gln3157Leu)
| |
| 1 | g.215817097T>C | CA344824866 | USH2A | c.9470A>G (p.Gln3157Arg)
| |
| 1 | g.215817097T>G | CA344824869 | USH2A | c.9470A>C (p.Gln3157Pro)
| gnomAD v4 |
| 1 | g.215817098G>A | CA1394306 | USH2A | c.9469C>T (p.Gln3157Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817098G>C | CA344824877 | USH2A | c.9469C>G (p.Gln3157Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817098G= | CA1220434329 | USH2A | c.9469C= (p.Gln3157=)
| |
| 1 | g.215817098G>T | CA344824879 | USH2A | c.9469C>A (p.Gln3157Lys)
| gnomAD v4 |
| 1 | g.215817099A= | CA1145197508 | USH2A | c.9468T= (p.Thr3156=)
| |
| 1 | g.215817099A>C | CA423308866 | USH2A | c.9468T>G (p.Thr3156=)
| ClinVar dbSNP |
| 1 | g.215817099A>G | CA423308868 | USH2A | c.9468T>C (p.Thr3156=)
| |
| 1 | g.215817099A>T | CA37428069 | USH2A | c.9468T>A (p.Thr3156=)
| ClinVar dbSNP |
| 1 | g.215817100G>A | CA344824886 | USH2A | c.9467C>T (p.Thr3156Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817100G>C | CA344824891 | USH2A | c.9467C>G (p.Thr3156Ser)
| |
| 1 | g.215817100G= | CA1220434330 | USH2A | c.9467C= (p.Thr3156=)
| |
| 1 | g.215817100G>T | CA344824893 | USH2A | c.9467C>A (p.Thr3156Asn)
| |
| 1 | g.215817101T>A | CA344824897 | USH2A | c.9466A>T (p.Thr3156Ser)
| |
| 1 | g.215817101T>C | CA344824899 | USH2A | c.9466A>G (p.Thr3156Ala)
| |
| 1 | g.215817101T>G | CA344824919 | USH2A | c.9466A>C (p.Thr3156Pro)
| |
| 1 | g.215817104del | CA2574001919 | USH2A | c.9466del (p.Thr3156LeufsTer4)
| ClinVar gnomAD v4 |
| 1 | g.215817102T>A | CA344824924 | USH2A | c.9465A>T (p.Lys3155Asn)
| |
| 1 | g.215817102T>C | CA423308885 | USH2A | c.9465A>G (p.Lys3155=)
| |
| 1 | g.215817102T>G | CA344824928 | USH2A | c.9465A>C (p.Lys3155Asn)
| |
| 1 | g.215817103T>A | CA344824931 | USH2A | c.9464A>T (p.Lys3155Ile)
| |
| 1 | g.215817103T>C | CA1394307 | USH2A | c.9464A>G (p.Lys3155Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817103T>G | CA344824935 | USH2A | c.9464A>C (p.Lys3155Thr)
| |
| 1 | g.215817103T= | CA1220434331 | USH2A | c.9464A= (p.Lys3155=)
| |
| 1 | g.215817104T>A | CA344824939 | USH2A | c.9463A>T (p.Lys3155Ter)
| |
| 1 | g.215817104T>C | CA344824943 | USH2A | c.9463A>G (p.Lys3155Glu)
| gnomAD v4 |
| 1 | g.215817104T>G | CA344824946 | USH2A | c.9463A>C (p.Lys3155Gln)
| |
| 1 | g.215817105A= | CA1220434332 | USH2A | c.9462T= (p.Ala3154=)
| |
| 1 | g.215817105A>C | CA423308891 | USH2A | c.9462T>G (p.Ala3154=)
| |
| 1 | g.215817105A>G | CA37428070 | USH2A | c.9462T>C (p.Ala3154=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817105A>T | CA423308893 | USH2A | c.9462T>A (p.Ala3154=)
| |
| 1 | g.215817106G>A | CA344824948 | USH2A | c.9461C>T (p.Ala3154Val)
| ClinVar dbSNP |
| 1 | g.215817106G>C | CA344824951 | USH2A | c.9461C>G (p.Ala3154Gly)
| dbSNP COSMIC COSMIC |
| 1 | g.215817106G= | CA1220434333 | USH2A | c.9461C= (p.Ala3154=)
| |
| 1 | g.215817106G>T | CA344824955 | USH2A | c.9461C>A (p.Ala3154Asp)
| |
| 1 | g.215817106_215817108dup | CA2650528368 | USH2A | c.9459_9461dup (p.Ala3154_Lys3155insAla)
| gnomAD v4 |
| 1 | g.215817107C>A | CA1394309 | USH2A | c.9460G>T (p.Ala3154Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817107C= | CA1142353490 | USH2A | c.9460G= (p.Ala3154=)
| |
| 1 | g.215817107C>G | CA344824961 | USH2A | c.9460G>C (p.Ala3154Pro)
| |
| 1 | g.215817107C>T | CA1394308 | USH2A | c.9460G>A (p.Ala3154Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215817108G>A | CA182727 | USH2A | c.9459C>T (p.Cys3153=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215817108G>C | CA344824974 | USH2A | c.9459C>G (p.Cys3153Trp)
| |
| 1 | g.215817108G= | CA1140853901 | USH2A | c.9459C= (p.Cys3153=)
| |
| 1 | g.215817108G>T | CA262133 | USH2A | c.9459C>A (p.Cys3153Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817109C>A | CA344824979 | USH2A | c.9458G>T (p.Cys3153Phe)
| |
| 1 | g.215817109C>G | CA344824982 | USH2A | c.9458G>C (p.Cys3153Ser)
| |
| 1 | g.215817109C>T | CA344824983 | USH2A | c.9458G>A (p.Cys3153Tyr)
| |
| 1 | g.215817110A>C | CA344824984 | USH2A | c.9457T>G (p.Cys3153Gly)
| |
| 1 | g.215817110A>G | CA344824987 | USH2A | c.9457T>C (p.Cys3153Arg)
| |
| 1 | g.215817110A>T | CA344825000 | USH2A | c.9457T>A (p.Cys3153Ser)
| |
| 1 | g.215817111T>A | CA423308903 | USH2A | c.9456A>T (p.Pro3152=)
| |
| 1 | g.215817111T>C | CA423308906 | USH2A | c.9456A>G (p.Pro3152=)
| |
| 1 | g.215817111T>G | CA423308908 | USH2A | c.9456A>C (p.Pro3152=)
| |
| 1 | g.215817112G>A | CA344825015 | USH2A | c.9455C>T (p.Pro3152Leu)
| COSMIC COSMIC |
| 1 | g.215817112G>C | CA344825017 | USH2A | c.9455C>G (p.Pro3152Arg)
| |
| 1 | g.215817112G>T | CA344825019 | USH2A | c.9455C>A (p.Pro3152Gln)
| |
| 1 | g.215817113G>A | CA344825024 | USH2A | c.9454C>T (p.Pro3152Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817113G>C | CA344825032 | USH2A | c.9454C>G (p.Pro3152Ala)
| |
| 1 | g.215817113G= | CA1220434334 | USH2A | c.9454C= (p.Pro3152=)
| |
| 1 | g.215817113G>T | CA344825036 | USH2A | c.9454C>A (p.Pro3152Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817114A= | CA1220434335 | USH2A | c.9453T= (p.Tyr3151=)
| |
| 1 | g.215817114A>C | CA344825041 | USH2A | c.9453T>G (p.Tyr3151Ter)
| |
| 1 | g.215817114A>G | CA423308914 | USH2A | c.9453T>C (p.Tyr3151=)
| |
| 1 | g.215817114A>T | CA344825039 | USH2A | c.9453T>A (p.Tyr3151Ter)
| ClinVar dbSNP |
| 1 | g.215817115T>A | CA344825044 | USH2A | c.9452A>T (p.Tyr3151Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817115T>C | CA344825047 | USH2A | c.9452A>G (p.Tyr3151Cys)
| |
| 1 | g.215817115T>G | CA344825048 | USH2A | c.9452A>C (p.Tyr3151Ser)
| |
| 1 | g.215817115T= | CA1220434336 | USH2A | c.9452A= (p.Tyr3151=)
| |
| 1 | g.215817116A= | CA1141959415 | USH2A | c.9451T= (p.Tyr3151=)
| |
| 1 | g.215817116A>C | CA344825050 | USH2A | c.9451T>G (p.Tyr3151Asp)
| |
| 1 | g.215817116A>G | CA1394310 | USH2A | c.9451T>C (p.Tyr3151His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817116A>T | CA344825057 | USH2A | c.9451T>A (p.Tyr3151Asn)
| |
| 1 | g.215817117C>A | CA344825060 | USH2A | c.9450G>T (p.Trp3150Cys)
| |
| 1 | g.215817117C>G | CA344825062 | USH2A | c.9450G>C (p.Trp3150Cys)
| |
| 1 | g.215817117C>T | CA344825064 | USH2A | c.9450G>A (p.Trp3150Ter)
| |
| 1 | g.215817118C>A | CA344825066 | USH2A | c.9449G>T (p.Trp3150Leu)
| |
| 1 | g.215817118C= | CA1220434337 | USH2A | c.9449G= (p.Trp3150=)
| |
| 1 | g.215817118C>G | CA344825067 | USH2A | c.9449G>C (p.Trp3150Ser)
| |
| 1 | g.215817118C>T | CA344825068 | USH2A | c.9449G>A (p.Trp3150Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817119A= | CA1220434338 | USH2A | c.9448T= (p.Trp3150=)
| |
| 1 | g.215817119A>C | CA344825075 | USH2A | c.9448T>G (p.Trp3150Gly)
| |
| 1 | g.215817119A>G | CA344825072 | USH2A | c.9448T>C (p.Trp3150Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817119A>T | CA344825069 | USH2A | c.9448T>A (p.Trp3150Arg)
| ClinVar dbSNP |
| 1 | g.215817120T>A | CA423308932 | USH2A | c.9447A>T (p.Thr3149=)
| |
| 1 | g.215817120T>C | CA423308933 | USH2A | c.9447A>G (p.Thr3149=)
| ClinVar gnomAD v4 |
| 1 | g.215817120T>G | CA423308935 | USH2A | c.9447A>C (p.Thr3149=)
| |
| 1 | g.215817121G>A | CA344825081 | USH2A | c.9446C>T (p.Thr3149Ile)
| gnomAD v4 |
| 1 | g.215817121G>C | CA344825088 | USH2A | c.9446C>G (p.Thr3149Arg)
| dbSNP gnomAD v4 |
| 1 | g.215817121G= | CA1220434339 | USH2A | c.9446C= (p.Thr3149=)
| |
| 1 | g.215817121G>T | CA344825087 | USH2A | c.9446C>A (p.Thr3149Lys)
| |
| 1 | g.215817122T>A | CA344825091 | USH2A | c.9445A>T (p.Thr3149Ser)
| |
| 1 | g.215817122T>C | CA344825099 | USH2A | c.9445A>G (p.Thr3149Ala)
| gnomAD v4 |
| 1 | g.215817122T>G | CA344825094 | USH2A | c.9445A>C (p.Thr3149Pro)
| |
| 1 | g.215817125dup | CA2650528369 | USH2A | c.9445dup (p.Thr3149AsnfsTer7)
| gnomAD v4 |
| 1 | g.215817123T>A | CA344825102 | USH2A | c.9444A>T (p.Lys3148Asn)
| |
| 1 | g.215817123T>C | CA423308940 | USH2A | c.9444A>G (p.Lys3148=)
| |
| 1 | g.215817123T>G | CA344825107 | USH2A | c.9444A>C (p.Lys3148Asn)
| gnomAD v4 |
| 1 | g.215817124T>A | CA344825110 | USH2A | c.9443A>T (p.Lys3148Ile)
| |
| 1 | g.215817124T>C | CA344825111 | USH2A | c.9443A>G (p.Lys3148Arg)
| |
| 1 | g.215817124T>G | CA344825112 | USH2A | c.9443A>C (p.Lys3148Thr)
| |
| 1 | g.215817125T>A | CA344825114 | USH2A | c.9442A>T (p.Lys3148Ter)
| |
| 1 | g.215817125T>C | CA344825115 | USH2A | c.9442A>G (p.Lys3148Glu)
| |
| 1 | g.215817125T>G | CA344825118 | USH2A | c.9442A>C (p.Lys3148Gln)
| |
| 1 | g.215817126C>A | CA344825121 | USH2A | c.9441G>T (p.Trp3147Cys)
| |
| 1 | g.215817126C= | CA1220434340 | USH2A | c.9441G= (p.Trp3147=)
| |
| 1 | g.215817126C>G | CA344825124 | USH2A | c.9441G>C (p.Trp3147Cys)
| |
| 1 | g.215817126C>T | CA344825126 | USH2A | c.9441G>A (p.Trp3147Ter)
| ClinVar dbSNP |
| 1 | g.215817127C>A | CA344825129 | USH2A | c.9440G>T (p.Trp3147Leu)
| |
| 1 | g.215817127C= | CA1220434341 | USH2A | c.9440G= (p.Trp3147=)
| |
| 1 | g.215817127C>G | CA344825132 | USH2A | c.9440G>C (p.Trp3147Ser)
| |
| 1 | g.215817127C>T | CA344825133 | USH2A | c.9440G>A (p.Trp3147Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817128A= | CA1141693322 | USH2A | c.9439T= (p.Trp3147=)
| |
| 1 | g.215817128A>C | CA344825137 | USH2A | c.9439T>G (p.Trp3147Gly)
| |
| 1 | g.215817128A>G | CA1394312 | USH2A | c.9439T>C (p.Trp3147Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817128A>T | CA344825134 | USH2A | c.9439T>A (p.Trp3147Arg)
| |
| 1 | g.215817129T>A | CA423308955 | USH2A | c.9438A>T (p.Leu3146=)
| COSMIC COSMIC |
| 1 | g.215817129T>C | CA37428096 | USH2A | c.9438A>G (p.Leu3146=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817129T>G | CA423308959 | USH2A | c.9438A>C (p.Leu3146=)
| dbSNP |
| 1 | g.215817129T= | CA1220434342 | USH2A | c.9438A= (p.Leu3146=)
| |
| 1 | g.215817129_215817130insTCCT | CA1394311 | USH2A | c.9438_9439insGGAA (p.Trp3147GlyfsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817130A= | CA1220434343 | USH2A | c.9437T= (p.Leu3146=)
| |
| 1 | g.215817130A>C | CA344825141 | USH2A | c.9437T>G (p.Leu3146Arg)
| |
| 1 | g.215817130A>G | CA344825143 | USH2A | c.9437T>C (p.Leu3146Pro)
| ClinVar dbSNP |
| 1 | g.215817130A>T | CA344825144 | USH2A | c.9437T>A (p.Leu3146Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817130_215817131insT | CA1394313 | USH2A | c.9436_9437insA (p.Leu3146HisfsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817131G>A | CA423308966 | USH2A | c.9436C>T (p.Leu3146=)
| |
| 1 | g.215817131G>C | CA344825150 | USH2A | c.9436C>G (p.Leu3146Val)
| |
| 1 | g.215817131G>T | CA344825152 | USH2A | c.9436C>A (p.Leu3146Ile)
| COSMIC COSMIC |
| 1 | g.215817132G>A | CA37428103 | USH2A | c.9435C>T (p.Leu3145=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215817132G>C | CA423308973 | USH2A | c.9435C>G (p.Leu3145=)
| |
| 1 | g.215817132G= | CA1220434344 | USH2A | c.9435C= (p.Leu3145=)
| |
| 1 | g.215817132G>T | CA423308975 | USH2A | c.9435C>A (p.Leu3145=)
| ClinVar |
| 1 | g.215817133A= | CA1220434345 | USH2A | c.9434T= (p.Leu3145=)
| |
| 1 | g.215817133A>C | CA344825154 | USH2A | c.9434T>G (p.Leu3145Arg)
| gnomAD v4 |
| 1 | g.215817133A>G | CA344825157 | USH2A | c.9434T>C (p.Leu3145Pro)
| |
| 1 | g.215817133A>T | CA344825158 | USH2A | c.9434T>A (p.Leu3145His)
| |
| 1 | g.215817133_215817134insAT | CA1394314 | USH2A | c.9433_9434insAT (p.Leu3145HisfsTer16)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817134G>A | CA1394316 | USH2A | c.9433C>T (p.Leu3145Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817134G>C | CA344825164 | USH2A | c.9433C>G (p.Leu3145Val)
| |
| 1 | g.215817134G= | CA1143537209 | USH2A | c.9433C= (p.Leu3145=)
| |
| 1 | g.215817134G>T | CA344825166 | USH2A | c.9433C>A (p.Leu3145Ile)
| |
| 1 | g.215817134_215817135insGATATGATCTCCT | CA1394315 | USH2A | c.9432_9433insAGGAGATCATATC (p.Leu3145ArgfsTer15)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817135A>C | CA344825171 | USH2A | c.9432T>G (p.Asp3144Glu)
| gnomAD v4 |
| 1 | g.215817135A>G | CA423308983 | USH2A | c.9432T>C (p.Asp3144=)
| |
| 1 | g.215817135A>T | CA344825168 | USH2A | c.9432T>A (p.Asp3144Glu)
| |
| 1 | g.215817136T>A | CA344825172 | USH2A | c.9431A>T (p.Asp3144Val)
| |
| 1 | g.215817136T>C | CA344825174 | USH2A | c.9431A>G (p.Asp3144Gly)
| |
| 1 | g.215817136T>G | CA344825176 | USH2A | c.9431A>C (p.Asp3144Ala)
| |
| 1 | g.215817137C>A | CA344825178 | USH2A | c.9430G>T (p.Asp3144Tyr)
| |
| 1 | g.215817137C= | CA1140236510 | USH2A | c.9430G= (p.Asp3144=)
| |
| 1 | g.215817137C>G | CA344825183 | USH2A | c.9430G>C (p.Asp3144His)
| |
| 1 | g.215817137C>T | CA143664 | USH2A | c.9430G>A (p.Asp3144Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817138A= | CA1220434346 | USH2A | c.9429T= (p.Tyr3143=)
| |
| 1 | g.215817138A>C | CA344825188 | USH2A | c.9429T>G (p.Tyr3143Ter)
| |
| 1 | g.215817138A>G | CA423308993 | USH2A | c.9429T>C (p.Tyr3143=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817138A>T | CA344825186 | USH2A | c.9429T>A (p.Tyr3143Ter)
| |
| 1 | g.215817139T>A | CA344825190 | USH2A | c.9428A>T (p.Tyr3143Phe)
| |
| 1 | g.215817139T>C | CA344825192 | USH2A | c.9428A>G (p.Tyr3143Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817139T>G | CA344825195 | USH2A | c.9428A>C (p.Tyr3143Ser)
| |
| 1 | g.215817139T= | CA1220434347 | USH2A | c.9428A= (p.Tyr3143=)
| |
| 1 | g.215817140A= | CA1220434348 | USH2A | c.9427T= (p.Tyr3143=)
| |
| 1 | g.215817140A>C | CA344825198 | USH2A | c.9427T>G (p.Tyr3143Asp)
| |
| 1 | g.215817140A>G | CA37428109 | USH2A | c.9427T>C (p.Tyr3143His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817140A>T | CA344825206 | USH2A | c.9427T>A (p.Tyr3143Asn)
| dbSNP COSMIC COSMIC |
| 1 | g.215817141T>A | CA423309001 | USH2A | c.9426A>T (p.Gly3142=)
| |
| 1 | g.215817141T>C | CA423309002 | USH2A | c.9426A>G (p.Gly3142=)
| gnomAD v4 |
| 1 | g.215817141T>G | CA423309005 | USH2A | c.9426A>C (p.Gly3142=)
| |
| 1 | g.215817142C>A | CA37428113 | USH2A | c.9425G>T (p.Gly3142Val)
| ClinVar dbSNP |
| 1 | g.215817142C= | CA1220434349 | USH2A | c.9425G= (p.Gly3142=)
| |
| 1 | g.215817142C>G | CA344825213 | USH2A | c.9425G>C (p.Gly3142Ala)
| |
| 1 | g.215817142C>T | CA344825210 | USH2A | c.9425G>A (p.Gly3142Glu)
| ClinVar dbSNP |
| 1 | g.215817143C>A | CA262131 | USH2A | c.9424G>T (p.Gly3142Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817143C= | CA1144229143 | USH2A | c.9424G= (p.Gly3142=)
| |
| 1 | g.215817143C>G | CA37428117 | USH2A | c.9424G>C (p.Gly3142Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817143C>T | CA344825219 | USH2A | c.9424G>A (p.Gly3142Arg)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817144A>C | CA423309013 | USH2A | c.9423T>G (p.Leu3141=)
| |
| 1 | g.215817144A>G | CA423309015 | USH2A | c.9423T>C (p.Leu3141=)
| |
| 1 | g.215817144A>T | CA423309016 | USH2A | c.9423T>A (p.Leu3141=)
| |
| 1 | g.215817145A>C | CA344825222 | USH2A | c.9422T>G (p.Leu3141Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817145A>G | CA344825223 | USH2A | c.9422T>C (p.Leu3141Pro)
| gnomAD v4 |
| 1 | g.215817145A>T | CA344825226 | USH2A | c.9422T>A (p.Leu3141His)
| |
| 1 | g.215817146G>A | CA344825230 | USH2A | c.9421C>T (p.Leu3141Phe)
| |
| 1 | g.215817146G>C | CA344825231 | USH2A | c.9421C>G (p.Leu3141Val)
| |
| 1 | g.215817146G>T | CA344825234 | USH2A | c.9421C>A (p.Leu3141Ile)
| |
| 1 | g.215817147A>C | CA344825236 | USH2A | c.9420T>G (p.Ile3140Met)
| |
| 1 | g.215817147A>G | CA423309023 | USH2A | c.9420T>C (p.Ile3140=)
| ClinVar dbSNP |
| 1 | g.215817147A>T | CA423309025 | USH2A | c.9420T>A (p.Ile3140=)
| |
| 1 | g.215817148A= | CA1220434350 | USH2A | c.9419T= (p.Ile3140=)
| |
| 1 | g.215817148A>C | CA344825238 | USH2A | c.9419T>G (p.Ile3140Ser)
| |
| 1 | g.215817148A>G | CA344825243 | USH2A | c.9419T>C (p.Ile3140Thr)
| gnomAD v4 |
| 1 | g.215817148A>T | CA344825241 | USH2A | c.9419T>A (p.Ile3140Asn)
| ClinVar dbSNP |
| 1 | g.215817149T>A | CA344825246 | USH2A | c.9418A>T (p.Ile3140Phe)
| |
| 1 | g.215817149T>C | CA344825250 | USH2A | c.9418A>G (p.Ile3140Val)
| dbSNP gnomAD v2 |
| 1 | g.215817149T>G | CA344825248 | USH2A | c.9418A>C (p.Ile3140Leu)
| |
| 1 | g.215817149T= | CA1220434351 | USH2A | c.9418A= (p.Ile3140=)
| |
| 1 | g.215817150G>A | CA423309037 | USH2A | c.9417C>T (p.Ile3139=)
| |
| 1 | g.215817150G>C | CA344825253 | USH2A | c.9417C>G (p.Ile3139Met)
| |
| 1 | g.215817150G>T | CA423309040 | USH2A | c.9417C>A (p.Ile3139=)
| |
| 1 | g.215817151A>C | CA344825254 | USH2A | c.9416T>G (p.Ile3139Ser)
| |
| 1 | g.215817151A>G | CA344825257 | USH2A | c.9416T>C (p.Ile3139Thr)
| |
| 1 | g.215817151A>T | CA344825260 | USH2A | c.9416T>A (p.Ile3139Asn)
| |
| 1 | g.215817152T>A | CA344825263 | USH2A | c.9415A>T (p.Ile3139Phe)
| |
| 1 | g.215817152T>C | CA1394317 | USH2A | c.9415A>G (p.Ile3139Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817152T>G | CA344825267 | USH2A | c.9415A>C (p.Ile3139Leu)
| |
| 1 | g.215817152T= | CA1220434352 | USH2A | c.9415A= (p.Ile3139=)
| |
| 1 | g.215817153G>A | CA423309050 | USH2A | c.9414C>T (p.Gly3138=)
| ClinVar |
| 1 | g.215817153G>C | CA423309051 | USH2A | c.9414C>G (p.Gly3138=)
| gnomAD v4 |
| 1 | g.215817153G>T | CA423309053 | USH2A | c.9414C>A (p.Gly3138=)
| |
| 1 | g.215817154C>A | CA344825271 | USH2A | c.9413G>T (p.Gly3138Val)
| |
| 1 | g.215817154C= | CA1220434353 | USH2A | c.9413G= (p.Gly3138=)
| |
| 1 | g.215817154C>G | CA344825273 | USH2A | c.9413G>C (p.Gly3138Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817154C>T | CA1394318 | USH2A | c.9413G>A (p.Gly3138Asp)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215817155C>A | CA344825282 | USH2A | c.9412G>T (p.Gly3138Cys)
| gnomAD v4 |
| 1 | g.215817155C>G | CA344825279 | USH2A | c.9412G>C (p.Gly3138Arg)
| |
| 1 | g.215817155C>T | CA344825277 | USH2A | c.9412G>A (p.Gly3138Ser)
| |
| 1 | g.215817156A>C | CA344825285 | USH2A | c.9411T>G (p.Asn3137Lys)
| |
| 1 | g.215817156A>G | CA423309062 | USH2A | c.9411T>C (p.Asn3137=)
| ClinVar COSMIC COSMIC |
| 1 | g.215817156A>T | CA344825287 | USH2A | c.9411T>A (p.Asn3137Lys)
| |
| 1 | g.215817157T>A | CA344825289 | USH2A | c.9410A>T (p.Asn3137Ile)
| |
| 1 | g.215817157T>C | CA344825291 | USH2A | c.9410A>G (p.Asn3137Ser)
| |
| 1 | g.215817157T>G | CA344825294 | USH2A | c.9410A>C (p.Asn3137Thr)
| |
| 1 | g.215817158T>A | CA344825297 | USH2A | c.9409A>T (p.Asn3137Tyr)
| |
| 1 | g.215817158T>C | CA344825300 | USH2A | c.9409A>G (p.Asn3137Asp)
| |
| 1 | g.215817158T>G | CA344825302 | USH2A | c.9409A>C (p.Asn3137His)
| |
| 1 | g.215817159T>A | CA423309073 | USH2A | c.9408A>T (p.Pro3136=)
| |
| 1 | g.215817159T>C | CA423309074 | USH2A | c.9408A>G (p.Pro3136=)
| |
| 1 | g.215817159T>G | CA423309077 | USH2A | c.9408A>C (p.Pro3136=)
| gnomAD v4 |
| 1 | g.215817160G>A | CA344825305 | USH2A | c.9407C>T (p.Pro3136Leu)
| |
| 1 | g.215817160G>C | CA344825308 | USH2A | c.9407C>G (p.Pro3136Arg)
| COSMIC |
| 1 | g.215817160G>T | CA344825311 | USH2A | c.9407C>A (p.Pro3136Gln)
| |
| 1 | g.215817161G>A | CA344825315 | USH2A | c.9406C>T (p.Pro3136Ser)
| |
| 1 | g.215817161G>C | CA344825316 | USH2A | c.9406C>G (p.Pro3136Ala)
| gnomAD v4 |
| 1 | g.215817161G= | CA1220434354 | USH2A | c.9406C= (p.Pro3136=)
| |
| 1 | g.215817161G>T | CA37428130 | USH2A | c.9406C>A (p.Pro3136Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817162C>A | CA344825318 | USH2A | c.9405G>T (p.Lys3135Asn)
| |
| 1 | g.215817162C>G | CA344825320 | USH2A | c.9405G>C (p.Lys3135Asn)
| |
| 1 | g.215817162C>T | CA423309084 | USH2A | c.9405G>A (p.Lys3135=)
| |
| 1 | g.215817163T>A | CA344825322 | USH2A | c.9404A>T (p.Lys3135Met)
| |
| 1 | g.215817163T>C | CA344825324 | USH2A | c.9404A>G (p.Lys3135Arg)
| |
| 1 | g.215817163T>G | CA344825326 | USH2A | c.9404A>C (p.Lys3135Thr)
| |
| 1 | g.215817164T>A | CA344825336 | USH2A | c.9403A>T (p.Lys3135Ter)
| gnomAD v4 |
| 1 | g.215817164T>C | CA344825339 | USH2A | c.9403A>G (p.Lys3135Glu)
| |
| 1 | g.215817164T>G | CA344825340 | USH2A | c.9403A>C (p.Lys3135Gln)
| COSMIC COSMIC |
| 1 | g.215817165C>A | CA423309092 | USH2A | c.9402G>T (p.Arg3134=)
| |
| 1 | g.215817165C= | CA1220434355 | USH2A | c.9402G= (p.Arg3134=)
| |
| 1 | g.215817165C>G | CA423309094 | USH2A | c.9402G>C (p.Arg3134=)
| |
| 1 | g.215817165C>T | CA10576376 | USH2A | c.9402G>A (p.Arg3134=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817166C>A | CA344825342 | USH2A | c.9401G>T (p.Arg3134Leu)
| |
| 1 | g.215817166C= | CA1220434356 | USH2A | c.9401G= (p.Arg3134=)
| |
| 1 | g.215817166C>G | CA344825344 | USH2A | c.9401G>C (p.Arg3134Pro)
| dbSNP gnomAD v4 |
| 1 | g.215817166C>T | CA245859 | USH2A | c.9401G>A (p.Arg3134Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817167G>A | CA1394319 | USH2A | c.9400C>T (p.Arg3134Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817167G>C | CA344825348 | USH2A | c.9400C>G (p.Arg3134Gly)
| |
| 1 | g.215817167G= | CA1149121163 | USH2A | c.9400C= (p.Arg3134=)
| |
| 1 | g.215817167G>T | CA423309103 | USH2A | c.9400C>A (p.Arg3134=)
| gnomAD v4 |
| 1 | g.215817168T>A | CA423309109 | USH2A | c.9399A>T (p.Pro3133=)
| |
| 1 | g.215817168T>C | CA423309107 | USH2A | c.9399A>G (p.Pro3133=)
| ClinVar |
| 1 | g.215817168T>G | CA423309105 | USH2A | c.9399A>C (p.Pro3133=)
| |
| 1 | g.215817169G>A | CA344825356 | USH2A | c.9398C>T (p.Pro3133Leu)
| dbSNP gnomAD v4 |
| 1 | g.215817169G>C | CA344825358 | USH2A | c.9398C>G (p.Pro3133Arg)
| |
| 1 | g.215817169G= | CA1220434357 | USH2A | c.9398C= (p.Pro3133=)
| |
| 1 | g.215817169G>T | CA344825360 | USH2A | c.9398C>A (p.Pro3133Gln)
| |
| 1 | g.215817170G>A | CA344825364 | USH2A | c.9397C>T (p.Pro3133Ser)
| |
| 1 | g.215817170G>C | CA344825366 | USH2A | c.9397C>G (p.Pro3133Ala)
| |
| 1 | g.215817170G>T | CA344825369 | USH2A | c.9397C>A (p.Pro3133Thr)
| |
| 1 | g.215817171A>C | CA423309117 | USH2A | c.9396T>G (p.Ser3132=)
| |
| 1 | g.215817171A>G | CA423309119 | USH2A | c.9396T>C (p.Ser3132=)
| gnomAD v4 |
| 1 | g.215817171A>T | CA423309122 | USH2A | c.9396T>A (p.Ser3132=)
| |
| 1 | g.215817172G>A | CA344825370 | USH2A | c.9395C>T (p.Ser3132Phe)
| |
| 1 | g.215817172G>C | CA1394320 | USH2A | c.9395C>G (p.Ser3132Cys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817172G= | CA1220434358 | USH2A | c.9395C= (p.Ser3132=)
| |
| 1 | g.215817172G>T | CA344825374 | USH2A | c.9395C>A (p.Ser3132Tyr)
| COSMIC COSMIC |
| 1 | g.215817173A= | CA1220434359 | USH2A | c.9394T= (p.Ser3132=)
| |
| 1 | g.215817173A>C | CA344825376 | USH2A | c.9394T>G (p.Ser3132Ala)
| |
| 1 | g.215817173A>G | CA344825381 | USH2A | c.9394T>C (p.Ser3132Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817173A>T | CA344825385 | USH2A | c.9394T>A (p.Ser3132Thr)
| |
| 1 | g.215817174C>A | CA423309133 | USH2A | c.9393G>T (p.Val3131=)
| |
| 1 | g.215817174C= | CA1220434360 | USH2A | c.9393G= (p.Val3131=)
| |
| 1 | g.215817174C>G | CA423309135 | USH2A | c.9393G>C (p.Val3131=)
| |
| 1 | g.215817174C>T | CA1394321 | USH2A | c.9393G>A (p.Val3131=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817175A= | CA1148717261 | USH2A | c.9392T= (p.Val3131=)
| |
| 1 | g.215817175A>C | CA1394322 | USH2A | c.9392T>G (p.Val3131Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817175A>G | CA344825390 | USH2A | c.9392T>C (p.Val3131Ala)
| |
| 1 | g.215817175A>T | CA344825388 | USH2A | c.9392T>A (p.Val3131Glu)
| gnomAD v4 |
| 1 | g.215817176C>A | CA344825394 | USH2A | c.9391G>T (p.Val3131Leu)
| |
| 1 | g.215817176C= | CA1220434361 | USH2A | c.9391G= (p.Val3131=)
| |
| 1 | g.215817176C>G | CA1394323 | USH2A | c.9391G>C (p.Val3131Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817176C>T | CA344825397 | USH2A | c.9391G>A (p.Val3131Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817178dup | CA2499214473 | USH2A | c.9391dup (p.Val3131GlyfsTer14)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817177C>A | CA344825402 | USH2A | c.9390G>T (p.Trp3130Cys)
| gnomAD v4 |
| 1 | g.215817177C= | CA1220434363 | USH2A | c.9390G= (p.Trp3130=)
| |
| 1 | g.215817177C>G | CA344825406 | USH2A | c.9390G>C (p.Trp3130Cys)
| |
| 1 | g.215817177C>T | CA10604657 | USH2A | c.9390G>A (p.Trp3130Ter)
| ClinVar dbSNP |
| 1 | g.215817177_215817181delinsCCAAT | CA1220434362 | USH2A | c.9386_9390delinsATTGG (p.Asp3129=)
| |
| 1 | g.215817178C>A | CA344825412 | USH2A | c.9389G>T (p.Trp3130Leu)
| ClinVar |
| 1 | g.215817178C>G | CA344825413 | USH2A | c.9389G>C (p.Trp3130Ser)
| |
| 1 | g.215817178C>T | CA344825416 | USH2A | c.9389G>A (p.Trp3130Ter)
| |
| 1 | g.215817178_215817185delinsCAATCAAT | CA1148730919 | USH2A | c.9382_9389delinsATTGATTG (p.Ile3128=)
| |
| 1 | g.215817182_215817185del | CA1394324 | USH2A | c.9386_9389del (p.Asp3129GlyfsTer30)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817179A= | CA1220434364 | USH2A | c.9388T= (p.Trp3130=)
| |
| 1 | g.215817179A>C | CA344825421 | USH2A | c.9388T>G (p.Trp3130Gly)
| ClinVar gnomAD v4 |
| 1 | g.215817179A>G | CA1394325 | USH2A | c.9388T>C (p.Trp3130Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817179A>T | CA344825423 | USH2A | c.9388T>A (p.Trp3130Arg)
| |
| 1 | g.215817180A= | CA1148423607 | USH2A | c.9387T= (p.Asp3129=)
| |
| 1 | g.215817180A>C | CA1394326 | USH2A | c.9387T>G (p.Asp3129Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817180A>G | CA423309154 | USH2A | c.9387T>C (p.Asp3129=)
| ClinVar dbSNP |
| 1 | g.215817180A>T | CA344825426 | USH2A | c.9387T>A (p.Asp3129Glu)
| |
| 1 | g.215817181T>A | CA344825428 | USH2A | c.9386A>T (p.Asp3129Val)
| |
| 1 | g.215817181T>C | CA344825429 | USH2A | c.9386A>G (p.Asp3129Gly)
| |
| 1 | g.215817181T>G | CA344825432 | USH2A | c.9386A>C (p.Asp3129Ala)
| |
| 1 | g.215817182C>A | CA344825436 | USH2A | c.9385G>T (p.Asp3129Tyr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817182C= | CA1220434365 | USH2A | c.9385G= (p.Asp3129=)
| |
| 1 | g.215817182C>G | CA344825440 | USH2A | c.9385G>C (p.Asp3129His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817182C>T | CA344825437 | USH2A | c.9385G>A (p.Asp3129Asn)
| COSMIC COSMIC |
