Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17527029T>A | CA379794872 | USH1C | c.508A>T (p.Ile170Phe) c.541A>T (p.Ile181Phe) c.415A>T (p.Ile139Phe) n.617A>T | |
11 | g.17527029T>C | CA379794877 | USH1C | c.508A>G (p.Ile170Val) c.541A>G (p.Ile181Val) c.415A>G (p.Ile139Val) n.617A>G | |
11 | g.17527029T>G | CA379794881 | USH1C | c.508A>C (p.Ile170Leu) c.541A>C (p.Ile181Leu) c.415A>C (p.Ile139Leu) n.617A>C | |
11 | g.17527030C>A | CA473302287 | USH1C | c.507G>T (p.Leu169=) c.540G>T (p.Leu180=) c.414G>T (p.Leu138=) n.616G>T | gnomAD v4 |
11 | g.17527030C= | CA1955186873 | USH1C | c.507G= (p.Leu169=) c.540G= (p.Leu180=) c.414G= (p.Leu138=) n.616G= | |
11 | g.17527030C>G | CA473302289 | USH1C | c.507G>C (p.Leu169=) c.540G>C (p.Leu180=) c.414G>C (p.Leu138=) n.616G>C | ClinVar dbSNP |
11 | g.17527030C>T | CA473302292 | USH1C | c.507G>A (p.Leu169=) c.540G>A (p.Leu180=) c.414G>A (p.Leu138=) n.616G>A | dbSNP |
11 | g.17527031A= | CA1955186874 | USH1C | c.506T= (p.Leu169=) c.539T= (p.Leu180=) c.413T= (p.Leu138=) n.615T= | |
11 | g.17527031A>C | CA379794921 | USH1C | c.506T>G (p.Leu169Arg) c.539T>G (p.Leu180Arg) c.413T>G (p.Leu138Arg) n.615T>G | |
11 | g.17527031A>G | CA379794884 | USH1C | c.506T>C (p.Leu169Pro) c.539T>C (p.Leu180Pro) c.413T>C (p.Leu138Pro) n.615T>C | ClinVar dbSNP gnomAD v4 |
11 | g.17527031A>T | CA379794888 | USH1C | c.506T>A (p.Leu169Gln) c.539T>A (p.Leu180Gln) c.413T>A (p.Leu138Gln) n.615T>A | gnomAD v4 |
11 | g.17527032G>A | CA473302294 | USH1C | c.505C>T (p.Leu169=) c.538C>T (p.Leu180=) c.412C>T (p.Leu138=) n.614C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17527032G>C | CA379794925 | USH1C | c.505C>G (p.Leu169Val) c.538C>G (p.Leu180Val) c.412C>G (p.Leu138Val) n.614C>G | |
11 | g.17527032G= | CA1955186875 | USH1C | c.505C= (p.Leu169=) c.538C= (p.Leu180=) c.412C= (p.Leu138=) n.614C= | |
11 | g.17527032G>T | CA379794926 | USH1C | c.505C>A (p.Leu169Met) c.538C>A (p.Leu180Met) c.412C>A (p.Leu138Met) n.614C>A | gnomAD v4 |
11 | g.17527033G>A | CA473302295 | USH1C | c.504C>T (p.Gly168=) c.537C>T (p.Gly179=) c.411C>T (p.Gly137=) n.613C>T | gnomAD v4 |
11 | g.17527033G>C | CA473302296 | USH1C | c.504C>G (p.Gly168=) c.537C>G (p.Gly179=) c.411C>G (p.Gly137=) n.613C>G | |
11 | g.17527033G>T | CA473302297 | USH1C | c.504C>A (p.Gly168=) c.537C>A (p.Gly179=) c.411C>A (p.Gly137=) n.613C>A | |
11 | g.17527034C>A | CA379794928 | USH1C | c.503G>T (p.Gly168Val) c.536G>T (p.Gly179Val) c.410G>T (p.Gly137Val) n.612G>T | gnomAD v4 |
11 | g.17527034C= | CA1955186876 | USH1C | c.503G= (p.Gly168=) c.536G= (p.Gly179=) c.410G= (p.Gly137=) n.612G= | |
11 | g.17527034C>G | CA379794931 | USH1C | c.503G>C (p.Gly168Ala) c.536G>C (p.Gly179Ala) c.410G>C (p.Gly137Ala) n.612G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527034C>T | CA379794938 | USH1C | c.503G>A (p.Gly168Asp) c.536G>A (p.Gly179Asp) c.410G>A (p.Gly137Asp) n.612G>A | gnomAD v4 |
11 | g.17527034_17527035insTTGGATTTTTATGTCTTTTTATTTCATTTCTCTAGTAATTCATTTTTATTTCACAAAATGACAGTTCTTCGTGGGTTGGACACTTATTTTTTATTTTTA | CA935546983 | USH1C | c.502_503insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly168ValfsTer23) c.535_536insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly179ValfsTer23) c.409_410insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly137ValfsTer23) n.611_612insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527035C>A | CA379794942 | USH1C | c.502G>T (p.Gly168Cys) c.535G>T (p.Gly179Cys) c.409G>T (p.Gly137Cys) n.611G>T | ClinVar gnomAD v4 |
11 | g.17527035C= | CA1955186877 | USH1C | c.502G= (p.Gly168=) c.535G= (p.Gly179=) c.409G= (p.Gly137=) n.611G= | |
11 | g.17527035C>G | CA379794944 | USH1C | c.502G>C (p.Gly168Arg) c.535G>C (p.Gly179Arg) c.409G>C (p.Gly137Arg) n.611G>C | ClinVar |
11 | g.17527035C>T | CA218461363 | USH1C | c.502G>A (p.Gly168Ser) c.535G>A (p.Gly179Ser) c.409G>A (p.Gly137Ser) n.611G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527036G>A | CA473302301 | USH1C | c.501C>T (p.Ile167=) c.534C>T (p.Ile178=) c.408C>T (p.Ile136=) n.610C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527036G>C | CA379794947 | USH1C | c.501C>G (p.Ile167Met) c.534C>G (p.Ile178Met) c.408C>G (p.Ile136Met) n.610C>G | dbSNP gnomAD v4 |
11 | g.17527036G= | CA1955186878 | USH1C | c.501C= (p.Ile167=) c.534C= (p.Ile178=) c.408C= (p.Ile136=) n.610C= | |
11 | g.17527036G>T | CA473302302 | USH1C | c.501C>A (p.Ile167=) c.534C>A (p.Ile178=) c.408C>A (p.Ile136=) n.610C>A | |
11 | g.17527037A>C | CA379794950 | USH1C | c.500T>G (p.Ile167Ser) c.533T>G (p.Ile178Ser) c.407T>G (p.Ile136Ser) n.609T>G | |
11 | g.17527037A>G | CA379794954 | USH1C | c.500T>C (p.Ile167Thr) c.533T>C (p.Ile178Thr) c.407T>C (p.Ile136Thr) n.609T>C | |
11 | g.17527037A>T | CA379794959 | USH1C | c.500T>A (p.Ile167Asn) c.533T>A (p.Ile178Asn) c.407T>A (p.Ile136Asn) n.609T>A | gnomAD v4 |
11 | g.17527037_17527039delinsATG | CA1955186879 | USH1C | c.498_500delinsCAT (p.His166=) c.531_533delinsCAT (p.His177=) c.405_407delinsCAT (p.His135=) n.607_609delinsCAT | |
11 | g.17527038T>A | CA379794983 | USH1C | c.499A>T (p.Ile167Phe) c.532A>T (p.Ile178Phe) c.406A>T (p.Ile136Phe) n.608A>T | dbSNP |
11 | g.17527038T>C | CA379794987 | USH1C | c.499A>G (p.Ile167Val) c.532A>G (p.Ile178Val) c.406A>G (p.Ile136Val) n.608A>G | |
11 | g.17527038T>G | CA379794979 | USH1C | c.499A>C (p.Ile167Leu) c.532A>C (p.Ile178Leu) c.406A>C (p.Ile136Leu) n.608A>C | |
11 | g.17527038T= | CA1955186880 | USH1C | c.499A= (p.Ile167=) c.532A= (p.Ile178=) c.406A= (p.Ile136=) n.608A= | |
11 | g.17527039_17527040del | CA935547012 | USH1C | c.498_499del (p.Ile167ArgfsTer10) c.531_532del (p.Ile178ArgfsTer10) c.405_406del (p.Ile136ArgfsTer10) n.607_608del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527039G>A | CA473302305 | USH1C | c.498C>T (p.His166=) c.531C>T (p.His177=) c.405C>T (p.His135=) n.607C>T | ClinVar gnomAD v4 |
11 | g.17527039G>C | CA379794993 | USH1C | c.498C>G (p.His166Gln) c.531C>G (p.His177Gln) c.405C>G (p.His135Gln) n.607C>G | |
11 | g.17527039G>T | CA379794990 | USH1C | c.498C>A (p.His166Gln) c.531C>A (p.His177Gln) c.405C>A (p.His135Gln) n.607C>A | gnomAD v4 |
11 | g.17527040T>A | CA379794998 | USH1C | c.497A>T (p.His166Leu) c.530A>T (p.His177Leu) c.404A>T (p.His135Leu) n.606A>T | |
11 | g.17527040T>C | CA379795001 | USH1C | c.497A>G (p.His166Arg) c.530A>G (p.His177Arg) c.404A>G (p.His135Arg) n.606A>G | |
11 | g.17527040T>G | CA379795004 | USH1C | c.497A>C (p.His166Pro) c.530A>C (p.His177Pro) c.404A>C (p.His135Pro) n.606A>C | |
11 | g.17527041C>A | CA379795010 | USH1C | c.497-1G>T (n.497-1G>T) c.530-1G>T (n.530-1G>T) c.404-1G>T (n.404-1G>T) n.606-1G>T | gnomAD v4 |
11 | g.17527041C>G | CA379795013 | USH1C | c.497-1G>C (n.497-1G>C) c.530-1G>C (n.530-1G>C) c.404-1G>C (n.404-1G>C) n.606-1G>C | |
11 | g.17527041C>T | CA379795016 | USH1C | c.497-1G>A (n.497-1G>A) c.530-1G>A (n.530-1G>A) c.404-1G>A (n.404-1G>A) n.606-1G>A | |
11 | g.17527041_17527042delinsCT | CA1955186881 | USH1C | c.497-2_497-1delinsAG (n.497-2_497-1delinsAG) c.530-2_530-1delinsAG (n.530-2_530-1delinsAG) c.404-2_404-1delinsAG (n.404-2_404-1delinsAG) n.606-2_606-1delinsAG | |
11 | g.17527042del | CA674239371 | USH1C | c.497-2del (n.497-2del) c.530-2del (n.530-2del) c.404-2del (n.404-2del) n.606-2del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527042T>A | CA379795019 | USH1C | c.497-2A>T (n.497-2A>T) c.530-2A>T (n.530-2A>T) c.404-2A>T (n.404-2A>T) n.606-2A>T | |
11 | g.17527042T>C | CA379795025 | USH1C | c.497-2A>G (n.497-2A>G) c.530-2A>G (n.530-2A>G) c.404-2A>G (n.404-2A>G) n.606-2A>G | gnomAD v4 |
11 | g.17527042T>G | CA379795028 | USH1C | c.497-2A>C (n.497-2A>C) c.530-2A>C (n.530-2A>C) c.404-2A>C (n.404-2A>C) n.606-2A>C | ClinVar dbSNP gnomAD v4 |
11 | g.17527043G>A | CA2612675191 | USH1C | c.497-3C>T (n.497-3C>T) c.530-3C>T (n.530-3C>T) c.404-3C>T (n.404-3C>T) n.606-3C>T | gnomAD v4 |
11 | g.17527043G>C | CA2612675192 | USH1C | c.497-3C>G (n.497-3C>G) c.530-3C>G (n.530-3C>G) c.404-3C>G (n.404-3C>G) n.606-3C>G | gnomAD v4 |
11 | g.17527043G= | CA1955186882 | USH1C | c.497-3C= (n.497-3C=) c.530-3C= (n.530-3C=) c.404-3C= (n.404-3C=) n.606-3C= | |
11 | g.17527043G>T | CA218461365 | USH1C | c.497-3C>A (n.497-3C>A) c.530-3C>A (n.530-3C>A) c.404-3C>A (n.404-3C>A) n.606-3C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527044C>A | CA2574769445 | USH1C | c.497-4G>T (n.497-4G>T) c.530-4G>T (n.530-4G>T) c.404-4G>T (n.404-4G>T) n.606-4G>T | |
11 | g.17527044C= | CA1955186883 | USH1C | c.497-4G= (n.497-4G=) c.530-4G= (n.530-4G=) c.404-4G= (n.404-4G=) n.606-4G= | |
11 | g.17527044C>T | CA142385 | USH1C | c.497-4G>A (n.497-4G>A) c.530-4G>A (n.530-4G>A) c.404-4G>A (n.404-4G>A) n.606-4G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527044_17527045delinsCG | CA1955186884 | USH1C | c.497-5_497-4delinsCG (n.497-5_497-4delinsCG) c.530-5_530-4delinsCG (n.530-5_530-4delinsCG) c.404-5_404-4delinsCG (n.404-5_404-4delinsCG) n.606-5_606-4delinsCG | |
11 | g.17527045G>A | CA5905002 | USH1C | c.497-5C>T (n.497-5C>T) c.530-5C>T (n.530-5C>T) c.404-5C>T (n.404-5C>T) n.606-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527045G>C | CA218461390 | USH1C | c.497-5C>G (n.497-5C>G) c.530-5C>G (n.530-5C>G) c.404-5C>G (n.404-5C>G) n.606-5C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527045G= | CA1955186885 | USH1C | c.497-5C= (n.497-5C=) c.530-5C= (n.530-5C=) c.404-5C= (n.404-5C=) n.606-5C= | |
11 | g.17527045G>T | CA2574769448 | USH1C | c.497-5C>A (n.497-5C>A) c.530-5C>A (n.530-5C>A) c.404-5C>A (n.404-5C>A) n.606-5C>A | gnomAD v4 |
11 | g.17527047del | CA597668772 | USH1C | c.497-5del (n.497-5del) c.530-5del (n.530-5del) c.404-5del (n.404-5del) n.606-5del | dbSNP gnomAD v2 |
11 | g.17527046G>A | CA5905003 | USH1C | c.497-6C>T (n.497-6C>T) c.530-6C>T (n.530-6C>T) c.404-6C>T (n.404-6C>T) n.606-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527046G= | CA1955186886 | USH1C | c.497-6C= (n.497-6C=) c.530-6C= (n.530-6C=) c.404-6C= (n.404-6C=) n.606-6C= | |
11 | g.17527046G>T | CA2612675203 | USH1C | c.497-6C>A (n.497-6C>A) c.530-6C>A (n.530-6C>A) c.404-6C>A (n.404-6C>A) n.606-6C>A | gnomAD v4 |
11 | g.17527048A>C | CA2612675205 | USH1C | c.497-8T>G (n.497-8T>G) c.530-8T>G (n.530-8T>G) c.404-8T>G (n.404-8T>G) n.606-8T>G | gnomAD v4 |
11 | g.17527048A>G | CA2612675204 | USH1C | c.497-8T>C (n.497-8T>C) c.530-8T>C (n.530-8T>C) c.404-8T>C (n.404-8T>C) n.606-8T>C | gnomAD v4 |
11 | g.17527049G>C | CA674239380 | USH1C | c.497-9C>G (n.497-9C>G) c.530-9C>G (n.530-9C>G) c.404-9C>G (n.404-9C>G) n.606-9C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527049G= | CA1955186887 | USH1C | c.497-9C= (n.497-9C=) c.530-9C= (n.530-9C=) c.404-9C= (n.404-9C=) n.606-9C= | |
11 | g.17527049G>T | CA2612675208 | USH1C | c.497-9C>A (n.497-9C>A) c.530-9C>A (n.530-9C>A) c.404-9C>A (n.404-9C>A) n.606-9C>A | gnomAD v4 |
11 | g.17527050A= | CA1955186888 | USH1C | c.497-10T= (n.497-10T=) c.530-10T= (n.530-10T=) c.404-10T= (n.404-10T=) n.606-10T= | |
11 | g.17527050A>C | CA2790593393 | USH1C | c.497-10T>G (n.497-10T>G) c.530-10T>G (n.530-10T>G) c.404-10T>G (n.404-10T>G) n.606-10T>G | |
11 | g.17527050A>G | CA915947973 | USH1C | c.497-10T>C (n.497-10T>C) c.530-10T>C (n.530-10T>C) c.404-10T>C (n.404-10T>C) n.606-10T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527050A>T | CA2612675212 | USH1C | c.497-10T>A (n.497-10T>A) c.530-10T>A (n.530-10T>A) c.404-10T>A (n.404-10T>A) n.606-10T>A | gnomAD v4 |
11 | g.17527052A>C | CA2790593395 | USH1C | c.497-12T>G (n.497-12T>G) c.530-12T>G (n.530-12T>G) c.404-12T>G (n.404-12T>G) n.606-12T>G | |
11 | g.17527052A>G | CA2612675215 | USH1C | c.497-12T>C (n.497-12T>C) c.530-12T>C (n.530-12T>C) c.404-12T>C (n.404-12T>C) n.606-12T>C | gnomAD v4 |
11 | g.17527054G>A | CA2612675217 | USH1C | c.497-14C>T (n.497-14C>T) c.530-14C>T (n.530-14C>T) c.404-14C>T (n.404-14C>T) n.606-14C>T | ClinVar gnomAD v4 |
11 | g.17527055C>A | CA2697548474 | USH1C | c.497-15G>T (n.497-15G>T) c.530-15G>T (n.530-15G>T) c.404-15G>T (n.404-15G>T) n.606-15G>T | ClinVar |
11 | g.17527055C= | CA1955186889 | USH1C | c.497-15G= (n.497-15G=) c.530-15G= (n.530-15G=) c.404-15G= (n.404-15G=) n.606-15G= | |
11 | g.17527055C>G | CA2612675219 | USH1C | c.497-15G>C (n.497-15G>C) c.530-15G>C (n.530-15G>C) c.404-15G>C (n.404-15G>C) n.606-15G>C | gnomAD v4 |
11 | g.17527056A>C | CA2612675220 | USH1C | c.497-16T>G (n.497-16T>G) c.530-16T>G (n.530-16T>G) c.404-16T>G (n.404-16T>G) n.606-16T>G | gnomAD v4 |
11 | g.17527059_17527060insAACAG | CA1955186890 | USH1C | c.497-16_497-15insTCTGT (n.497-16_497-15insTCTGT) c.530-16_530-15insTCTGT (n.530-16_530-15insTCTGT) c.404-16_404-15insTCTGT (n.404-16_404-15insTCTGT) n.606-16_606-15insTCTGT | dbSNP gnomAD v4 |
11 | g.17527057C>T | CA2612675221 | USH1C | c.497-17G>A (n.497-17G>A) c.530-17G>A (n.530-17G>A) c.404-17G>A (n.404-17G>A) n.606-17G>A | gnomAD v4 |
11 | g.17527058A= | CA1955186891 | USH1C | c.497-18T= (n.497-18T=) c.530-18T= (n.530-18T=) c.404-18T= (n.404-18T=) n.606-18T= | |
11 | g.17527058A>T | CA2612675222 | USH1C | c.497-18T>A (n.497-18T>A) c.530-18T>A (n.530-18T>A) c.404-18T>A (n.404-18T>A) n.606-18T>A | gnomAD v4 |
11 | g.17527061_17527067del | CA2790593396 | USH1C | c.497-24_497-18del (n.497-24_497-18del) c.530-24_530-18del (n.530-24_530-18del) c.404-24_404-18del (n.404-24_404-18del) n.606-24_606-18del | |
11 | g.17527059G>A | CA597668774 | USH1C | c.497-19C>T (n.497-19C>T) c.530-19C>T (n.530-19C>T) c.404-19C>T (n.404-19C>T) n.606-19C>T | dbSNP gnomAD v2 |
11 | g.17527059G= | CA1955186892 | USH1C | c.497-19C= (n.497-19C=) c.530-19C= (n.530-19C=) c.404-19C= (n.404-19C=) n.606-19C= | |
11 | g.17527059G>T | CA2612675224 | USH1C | c.497-19C>A (n.497-19C>A) c.530-19C>A (n.530-19C>A) c.404-19C>A (n.404-19C>A) n.606-19C>A | gnomAD v4 |
11 | g.17527062dup | CA674239384 | USH1C | c.497-19dup (n.497-19dup) c.530-19dup (n.530-19dup) c.404-19dup (n.404-19dup) n.606-19dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527060G>A | CA218461395 | USH1C | c.497-20C>T (n.497-20C>T) c.530-20C>T (n.530-20C>T) c.404-20C>T (n.404-20C>T) n.606-20C>T | dbSNP gnomAD v4 |
11 | g.17527060G= | CA1955186893 | USH1C | c.497-20C= (n.497-20C=) c.530-20C= (n.530-20C=) c.404-20C= (n.404-20C=) n.606-20C= | |
11 | g.17527060G>T | CA2723075854 | USH1C | c.497-20C>A (n.497-20C>A) c.530-20C>A (n.530-20C>A) c.404-20C>A (n.404-20C>A) n.606-20C>A | dbSNP |
11 | g.17527060_17527061insACA | CA2790593397 | USH1C | c.497-21_497-20insTGT (n.497-21_497-20insTGT) c.530-21_530-20insTGT (n.530-21_530-20insTGT) c.404-21_404-20insTGT (n.404-21_404-20insTGT) n.606-21_606-20insTGT | |
11 | g.17527061G>A | CA2790593398 | USH1C | c.497-21C>T (n.497-21C>T) c.530-21C>T (n.530-21C>T) c.404-21C>T (n.404-21C>T) n.606-21C>T | |
11 | g.17527061G= | CA1955186894 | USH1C | c.497-21C= (n.497-21C=) c.530-21C= (n.530-21C=) c.404-21C= (n.404-21C=) n.606-21C= | |
11 | g.17527061G>T | CA1955186895 | USH1C | c.497-21C>A (n.497-21C>A) c.530-21C>A (n.530-21C>A) c.404-21C>A (n.404-21C>A) n.606-21C>A | dbSNP gnomAD v4 |
11 | g.17527061_17527062insAC | CA2790593401 | USH1C | c.497-22_497-21insGT (n.497-22_497-21insGT) c.530-22_530-21insGT (n.530-22_530-21insGT) c.404-22_404-21insGT (n.404-22_404-21insGT) n.606-22_606-21insGT | |
11 | g.17527062G>A | CA2790593399 | USH1C | c.497-22C>T (n.497-22C>T) c.530-22C>T (n.530-22C>T) c.404-22C>T (n.404-22C>T) n.606-22C>T | |
11 | g.17527062G>C | CA2790593400 | USH1C | c.497-22C>G (n.497-22C>G) c.530-22C>G (n.530-22C>G) c.404-22C>G (n.404-22C>G) n.606-22C>G | |
11 | g.17527062G= | CA1955186896 | USH1C | c.497-22C= (n.497-22C=) c.530-22C= (n.530-22C=) c.404-22C= (n.404-22C=) n.606-22C= | |
11 | g.17527062G>T | CA597668776 | USH1C | c.497-22C>A (n.497-22C>A) c.530-22C>A (n.530-22C>A) c.404-22C>A (n.404-22C>A) n.606-22C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527063T>A | CA2790593402 | USH1C | c.497-23A>T (n.497-23A>T) c.530-23A>T (n.530-23A>T) c.404-23A>T (n.404-23A>T) n.606-23A>T | |
11 | g.17527063T>G | CA2612675226 | USH1C | c.497-23A>C (n.497-23A>C) c.530-23A>C (n.530-23A>C) c.404-23A>C (n.404-23A>C) n.606-23A>C | gnomAD v4 |
11 | g.17527064T>C | CA674239392 | USH1C | c.497-24A>G (n.497-24A>G) c.530-24A>G (n.530-24A>G) c.404-24A>G (n.404-24A>G) n.606-24A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527064T= | CA1955186897 | USH1C | c.497-24A= (n.497-24A=) c.530-24A= (n.530-24A=) c.404-24A= (n.404-24A=) n.606-24A= | |
11 | g.17527065A>C | CA2612675227 | USH1C | c.497-25T>G (n.497-25T>G) c.530-25T>G (n.530-25T>G) c.404-25T>G (n.404-25T>G) n.606-25T>G | gnomAD v4 |
11 | g.17527065_17527066delinsAG | CA1955186898 | USH1C | c.497-26_497-25delinsCT (n.497-26_497-25delinsCT) c.530-26_530-25delinsCT (n.530-26_530-25delinsCT) c.404-26_404-25delinsCT (n.404-26_404-25delinsCT) n.606-26_606-25delinsCT | |
11 | g.17527067del | CA597668778 | USH1C | c.497-26del (n.497-26del) c.530-26del (n.530-26del) c.404-26del (n.404-26del) n.606-26del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527066_17527071del | CA2790593403 | USH1C | c.497-31_497-26del (n.497-31_497-26del) c.530-31_530-26del (n.530-31_530-26del) c.404-31_404-26del (n.404-31_404-26del) n.606-31_606-26del | |
11 | g.17527067G>A | CA2790593405 | USH1C | c.497-27C>T (n.497-27C>T) c.530-27C>T (n.530-27C>T) c.404-27C>T (n.404-27C>T) n.606-27C>T | |
11 | g.17527067G>T | CA2790593406 | USH1C | c.497-27C>A (n.497-27C>A) c.530-27C>A (n.530-27C>A) c.404-27C>A (n.404-27C>A) n.606-27C>A | |
11 | g.17527067_17527069del | CA2790593404 | USH1C | c.497-29_497-27del (n.497-29_497-27del) c.530-29_530-27del (n.530-29_530-27del) c.404-29_404-27del (n.404-29_404-27del) n.606-29_606-27del | |
11 | g.17527068A= | CA1955186899 | USH1C | c.497-28T= (n.497-28T=) c.530-28T= (n.530-28T=) c.404-28T= (n.404-28T=) n.606-28T= | |
11 | g.17527068A>C | CA2612675229 | USH1C | c.497-28T>G (n.497-28T>G) c.530-28T>G (n.530-28T>G) c.404-28T>G (n.404-28T>G) n.606-28T>G | gnomAD v4 |
11 | g.17527068A>G | CA597668779 | USH1C | c.497-28T>C (n.497-28T>C) c.530-28T>C (n.530-28T>C) c.404-28T>C (n.404-28T>C) n.606-28T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527069C>A | CA597668780 | USH1C | c.497-29G>T (n.497-29G>T) c.530-29G>T (n.530-29G>T) c.404-29G>T (n.404-29G>T) n.606-29G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527069C= | CA1955186900 | USH1C | c.497-29G= (n.497-29G=) c.530-29G= (n.530-29G=) c.404-29G= (n.404-29G=) n.606-29G= | |
11 | g.17527069dup | CA2513034635 | USH1C | c.497-29dup (n.497-29dup) c.530-29dup (n.530-29dup) c.404-29dup (n.404-29dup) n.606-29dup | |
11 | g.17527070A= | CA1955186901 | USH1C | c.497-30T= (n.497-30T=) c.530-30T= (n.530-30T=) c.404-30T= (n.404-30T=) n.606-30T= | |
11 | g.17527070A>T | CA935547038 | USH1C | c.497-30T>A (n.497-30T>A) c.530-30T>A (n.530-30T>A) c.404-30T>A (n.404-30T>A) n.606-30T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527070_17527115delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT | CA1955186903 | USH1C | c.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.606-75_606-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA1955186902 | USH1C | c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527070_17527071insCAG | CA2790593412 | USH1C | c.497-31_497-30insCTG (n.497-31_497-30insCTG) c.530-31_530-30insCTG (n.530-31_530-30insCTG) c.404-31_404-30insCTG (n.404-31_404-30insCTG) n.606-31_606-30insCTG | |
11 | g.17527071G>A | CA2790593409 | USH1C | c.497-31C>T (n.497-31C>T) c.530-31C>T (n.530-31C>T) c.404-31C>T (n.404-31C>T) n.606-31C>T | |
11 | g.17527071G>C | CA2790593410 | USH1C | c.497-31C>G (n.497-31C>G) c.530-31C>G (n.530-31C>G) c.404-31C>G (n.404-31C>G) n.606-31C>G | |
11 | g.17527072_17527073insGCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGC | CA2790593413 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC | |
11 | g.17527074_17527075insGGCCCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGACCTGCTC | CA2612675233 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) c.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) c.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) n.606-31_606-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828289 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGTCCTGCTCCCCC | CA2612675239 | USH1C | c.497-31_497-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGACCTGCTCCCCC | CA918828290 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCGTCATGGAGTACTGACCTGCTCCCCC | CA918828295 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828286 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828294 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA918828288 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGCCCTGCTCCCCC | CA2612675240 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | gnomAD v4 |
11 | g.17527073_17527080del | CA935547057 | USH1C | c.497-38_497-31del (n.497-38_497-31del) c.530-38_530-31del (n.530-38_530-31del) c.404-38_404-31del (n.404-38_404-31del) n.606-38_606-31del | gnomAD v3 gnomAD v4 |
11 | g.17527082_17527083insCCCCCCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCC | CA2741153352 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC | |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA935547045 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612675235 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675238 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547058 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v3 gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA918828287 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP |
11 | g.17527112_17527156dup | CA597668782 | USH1C | c.497-75_497-31dup (n.497-75_497-31dup) c.530-75_530-31dup (n.530-75_530-31dup) c.404-75_404-31dup (n.404-75_404-31dup) n.606-75_606-31dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527156del | CA473302313 | USH1C | c.497-75_497-31del (n.497-75_497-31del) c.530-75_530-31del (n.530-75_530-31del) c.404-75_404-31del (n.404-75_404-31del) n.606-75_606-31del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527201del | CA935547049 | USH1C | c.496+63_497-31del (n.496+63_497-31del) c.529+63_530-31del (n.529+63_530-31del) c.403+63_404-31del (n.403+63_404-31del) n.605+63_606-31del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527071_17527072insAGA | CA2790593419 | USH1C | c.497-32_497-31insTCT (n.497-32_497-31insTCT) c.530-32_530-31insTCT (n.530-32_530-31insTCT) c.404-32_404-31insTCT (n.404-32_404-31insTCT) n.606-32_606-31insTCT | |
11 | g.17527071_17527072insACAA | CA2790593420 | USH1C | c.497-32_497-31insTTGT (n.497-32_497-31insTTGT) c.530-32_530-31insTTGT (n.530-32_530-31insTTGT) c.404-32_404-31insTTGT (n.404-32_404-31insTTGT) n.606-32_606-31insTTGT | |
11 | g.17527071_17527072insAGAT | CA2790593418 | USH1C | c.497-32_497-31insATCT (n.497-32_497-31insATCT) c.530-32_530-31insATCT (n.530-32_530-31insATCT) c.404-32_404-31insATCT (n.404-32_404-31insATCT) n.606-32_606-31insATCT | |
11 | g.17527072C>A | CA2790593417 | USH1C | c.497-32G>T (n.497-32G>T) c.530-32G>T (n.530-32G>T) c.404-32G>T (n.404-32G>T) n.606-32G>T | |
11 | g.17527072C>T | CA2790593416 | USH1C | c.497-32G>A (n.497-32G>A) c.530-32G>A (n.530-32G>A) c.404-32G>A (n.404-32G>A) n.606-32G>A | |
11 | g.17527077_17527090del | CA2612675242 | USH1C | c.497-45_497-32del (n.497-45_497-32del) c.530-45_530-32del (n.530-45_530-32del) c.404-45_404-32del (n.404-45_404-32del) n.606-45_606-32del | gnomAD v4 |
11 | g.17527073T>A | CA2790593422 | USH1C | c.497-33A>T (n.497-33A>T) c.530-33A>T (n.530-33A>T) c.404-33A>T (n.404-33A>T) n.606-33A>T | |
11 | g.17527073T>C | CA5905004 | USH1C | c.497-33A>G (n.497-33A>G) c.530-33A>G (n.530-33A>G) c.404-33A>G (n.404-33A>G) n.606-33A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527073T>G | CA218461417 | USH1C | c.497-33A>C (n.497-33A>C) c.530-33A>C (n.530-33A>C) c.404-33A>C (n.404-33A>C) n.606-33A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527073T= | CA1955186904 | USH1C | c.497-33A= (n.497-33A=) c.530-33A= (n.530-33A=) c.404-33A= (n.404-33A=) n.606-33A= | |
11 | g.17527073_17527074insAGTG | CA2790593432 | USH1C | c.497-34_497-33insCACT (n.497-34_497-33insCACT) c.530-34_530-33insCACT (n.530-34_530-33insCACT) c.404-34_404-33insCACT (n.404-34_404-33insCACT) n.606-34_606-33insCACT | |
11 | g.17527074C>A | CA473302316 | USH1C | c.497-34G>T (n.497-34G>T) c.530-34G>T (n.530-34G>T) c.404-34G>T (n.404-34G>T) n.606-34G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527074C= | CA1955186905 | USH1C | c.497-34G= (n.497-34G=) c.530-34G= (n.530-34G=) c.404-34G= (n.404-34G=) n.606-34G= | |
11 | g.17527074C>G | CA1955186906 | USH1C | c.497-34G>C (n.497-34G>C) c.530-34G>C (n.530-34G>C) c.404-34G>C (n.404-34G>C) n.606-34G>C | dbSNP |
11 | g.17527074_17527075insGCCC | CA2790593430 | USH1C | c.497-34_497-33insGGCG (n.497-34_497-33insGGCG) c.530-34_530-33insGGCG (n.530-34_530-33insGGCG) c.404-34_404-33insGGCG (n.404-34_404-33insGGCG) n.606-34_606-33insGGCG | |
11 | g.17527074_17527075insGCCCC | CA2612675261 | USH1C | c.497-34_497-33insGGGCG (n.497-34_497-33insGGGCG) c.530-34_530-33insGGGCG (n.530-34_530-33insGGGCG) c.404-34_404-33insGGGCG (n.404-34_404-33insGGGCG) n.606-34_606-33insGGGCG | gnomAD v4 |
11 | g.17527075_17527076insGCC | CA2612675270 | USH1C | c.497-34_497-33insCGG (n.497-34_497-33insCGG) c.530-34_530-33insCGG (n.530-34_530-33insCGG) c.404-34_404-33insCGG (n.404-34_404-33insCGG) n.606-34_606-33insCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCC | CA2612675253 | USH1C | c.497-34_497-33insGCGG (n.497-34_497-33insGCGG) c.530-34_530-33insGCGG (n.530-34_530-33insGCGG) c.404-34_404-33insGCGG (n.404-34_404-33insGCGG) n.606-34_606-33insGCGG | gnomAD v4 |
11 | g.17527075_17527076insACCCC | CA2612675274 | USH1C | c.497-34_497-33insGGTGG (n.497-34_497-33insGGTGG) c.530-34_530-33insGGTGG (n.530-34_530-33insGGTGG) c.404-34_404-33insGGTGG (n.404-34_404-33insGGTGG) n.606-34_606-33insGGTGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCC | CA2612675255 | USH1C | c.497-34_497-33insGGCGG (n.497-34_497-33insGGCGG) c.530-34_530-33insGGCGG (n.530-34_530-33insGGCGG) c.404-34_404-33insGGCGG (n.404-34_404-33insGGCGG) n.606-34_606-33insGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCCC | CA2612675257 | USH1C | c.497-34_497-33insGGGCGG (n.497-34_497-33insGGGCGG) c.530-34_530-33insGGGCGG (n.530-34_530-33insGGGCGG) c.404-34_404-33insGGGCGG (n.404-34_404-33insGGGCGG) n.606-34_606-33insGGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCCCC | CA2612675258 | USH1C | c.497-34_497-33insGGGGCGG (n.497-34_497-33insGGGGCGG) c.530-34_530-33insGGGGCGG (n.530-34_530-33insGGGGCGG) c.404-34_404-33insGGGGCGG (n.404-34_404-33insGGGGCGG) n.606-34_606-33insGGGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGGCCCCCCCC | CA2612675260 | USH1C | c.497-34_497-33insGGGGGGCCGG (n.497-34_497-33insGGGGGGCCGG) c.530-34_530-33insGGGGGGCCGG (n.530-34_530-33insGGGGGGCCGG) c.404-34_404-33insGGGGGGCCGG (n.404-34_404-33insGGGGGGCCGG) n.606-34_606-33insGGGGGGCCGG | gnomAD v4 |
11 | g.17527076_17527077insGCCC | CA2612675282 | USH1C | c.497-34_497-33insCGGG (n.497-34_497-33insCGGG) c.530-34_530-33insCGGG (n.530-34_530-33insCGGG) c.404-34_404-33insCGGG (n.404-34_404-33insCGGG) n.606-34_606-33insCGGG | gnomAD v4 |
11 | g.17527076_17527077insGCCCC | CA2612675271 | USH1C | c.497-34_497-33insGCGGG (n.497-34_497-33insGCGGG) c.530-34_530-33insGCGGG (n.530-34_530-33insGCGGG) c.404-34_404-33insGCGGG (n.404-34_404-33insGCGGG) n.606-34_606-33insGCGGG | gnomAD v4 |
11 | g.17527074_17527078del | CA2612675266 | USH1C | c.497-38_497-34del (n.497-38_497-34del) c.530-38_530-34del (n.530-38_530-34del) c.404-38_404-34del (n.404-38_404-34del) n.606-38_606-34del | gnomAD v4 |
11 | g.17527078_17527079insCCCCCC | CA597668790 | USH1C | c.497-34_497-33insGGGGGG (n.497-34_497-33insGGGGGG) c.530-34_530-33insGGGGGG (n.530-34_530-33insGGGGGG) c.404-34_404-33insGGGGGG (n.404-34_404-33insGGGGGG) n.606-34_606-33insGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCC | CA597668791 | USH1C | c.497-34_497-33insGGGGGGG (n.497-34_497-33insGGGGGGG) c.530-34_530-33insGGGGGGG (n.530-34_530-33insGGGGGGG) c.404-34_404-33insGGGGGGG (n.404-34_404-33insGGGGGGG) n.606-34_606-33insGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCC | CA597668789 | USH1C | c.497-34_497-33insGGGGGGGG (n.497-34_497-33insGGGGGGGG) c.530-34_530-33insGGGGGGGG (n.530-34_530-33insGGGGGGGG) c.404-34_404-33insGGGGGGGG (n.404-34_404-33insGGGGGGGG) n.606-34_606-33insGGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCC | CA935547074 | USH1C | c.497-34_497-33insGGGGGGGGG (n.497-34_497-33insGGGGGGGGG) c.530-34_530-33insGGGGGGGGG (n.530-34_530-33insGGGGGGGGG) c.404-34_404-33insGGGGGGGGG (n.404-34_404-33insGGGGGGGGG) n.606-34_606-33insGGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCC | CA2612675281 | USH1C | c.497-34_497-33insGGGGGGGGGG (n.497-34_497-33insGGGGGGGGGG) c.530-34_530-33insGGGGGGGGGG (n.530-34_530-33insGGGGGGGGGG) c.404-34_404-33insGGGGGGGGGG (n.404-34_404-33insGGGGGGGGGG) n.606-34_606-33insGGGGGGGGGG | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCCC | CA597668788 | USH1C | c.497-34_497-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.497-34_497-33insGGGGGGGGGGGGGGGGGGGGGGGG) c.530-34_530-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.530-34_530-33insGGGGGGGGGGGGGGGGGGGGGGGG) c.404-34_404-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.404-34_404-33insGGGGGGGGGGGGGGGGGGGGGGGG) n.606-34_606-33insGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v2 |
11 | g.17527078dup | CA2574769461 | USH1C | c.497-34dup (n.497-34dup) c.530-34dup (n.530-34dup) c.404-34dup (n.404-34dup) n.606-34dup | gnomAD v4 |
11 | g.17527077_17527078dup | CA2574769463 | USH1C | c.497-35_497-34dup (n.497-35_497-34dup) c.530-35_530-34dup (n.530-35_530-34dup) c.404-35_404-34dup (n.404-35_404-34dup) n.606-35_606-34dup | gnomAD v4 |
11 | g.17527076_17527078dup | CA2612675276 | USH1C | c.497-36_497-34dup (n.497-36_497-34dup) c.530-36_530-34dup (n.530-36_530-34dup) c.404-36_404-34dup (n.404-36_404-34dup) n.606-36_606-34dup | gnomAD v4 |
11 | g.17527075_17527078dup | CA2612675278 | USH1C | c.497-37_497-34dup (n.497-37_497-34dup) c.530-37_530-34dup (n.530-37_530-34dup) c.404-37_404-34dup (n.404-37_404-34dup) n.606-37_606-34dup | gnomAD v4 |
11 | g.17527074_17527078dup | CA2574769465 | USH1C | c.497-38_497-34dup (n.497-38_497-34dup) c.530-38_530-34dup (n.530-38_530-34dup) c.404-38_404-34dup (n.404-38_404-34dup) n.606-38_606-34dup | gnomAD v4 |
11 | g.17527078del | CA597668793 | USH1C | c.497-34del (n.497-34del) c.530-34del (n.530-34del) c.404-34del (n.404-34del) n.606-34del | gnomAD v2 gnomAD v4 |
11 | g.17527077_17527078del | CA2612675262 | USH1C | c.497-35_497-34del (n.497-35_497-34del) c.530-35_530-34del (n.530-35_530-34del) c.404-35_404-34del (n.404-35_404-34del) n.606-35_606-34del | gnomAD v4 |
11 | g.17527076_17527078del | CA935547069 | USH1C | c.497-36_497-34del (n.497-36_497-34del) c.530-36_530-34del (n.530-36_530-34del) c.404-36_404-34del (n.404-36_404-34del) n.606-36_606-34del | gnomAD v3 gnomAD v4 |
11 | g.17527075_17527078del | CA2612675264 | USH1C | c.497-37_497-34del (n.497-37_497-34del) c.530-37_530-34del (n.530-37_530-34del) c.404-37_404-34del (n.404-37_404-34del) n.606-37_606-34del | gnomAD v4 |
11 | g.17527076_17527094del | CA2612675268 | USH1C | c.497-52_497-34del (n.497-52_497-34del) c.530-52_530-34del (n.530-52_530-34del) c.404-52_404-34del (n.404-52_404-34del) n.606-52_606-34del | gnomAD v4 |
11 | g.17527074_17527075insG | CA2612675295 | USH1C | c.497-35_497-34insC (n.497-35_497-34insC) c.530-35_530-34insC (n.530-35_530-34insC) c.404-35_404-34insC (n.404-35_404-34insC) n.606-35_606-34insC | gnomAD v4 |
11 | g.17527074_17527075insT | CA2790593435 | USH1C | c.497-35_497-34insA (n.497-35_497-34insA) c.530-35_530-34insA (n.530-35_530-34insA) c.404-35_404-34insA (n.404-35_404-34insA) n.606-35_606-34insA | |
11 | g.17527074_17527075insGG | CA2612675291 | USH1C | c.497-35_497-34insCC (n.497-35_497-34insCC) c.530-35_530-34insCC (n.530-35_530-34insCC) c.404-35_404-34insCC (n.404-35_404-34insCC) n.606-35_606-34insCC | gnomAD v4 |
11 | g.17527074_17527075insACT | CA2790593433 | USH1C | c.497-35_497-34insAGT (n.497-35_497-34insAGT) c.530-35_530-34insAGT (n.530-35_530-34insAGT) c.404-35_404-34insAGT (n.404-35_404-34insAGT) n.606-35_606-34insAGT | |
11 | g.17527074_17527075insGGG | CA2612675294 | USH1C | c.497-35_497-34insCCC (n.497-35_497-34insCCC) c.530-35_530-34insCCC (n.530-35_530-34insCCC) c.404-35_404-34insCCC (n.404-35_404-34insCCC) n.606-35_606-34insCCC | gnomAD v4 |
11 | g.17527074_17527075insAGAT | CA2790593434 | USH1C | c.497-35_497-34insATCT (n.497-35_497-34insATCT) c.530-35_530-34insATCT (n.530-35_530-34insATCT) c.404-35_404-34insATCT (n.404-35_404-34insATCT) n.606-35_606-34insATCT | |
11 | g.17527075C>A | CA2554689298 | USH1C | c.497-35G>T (n.497-35G>T) c.530-35G>T (n.530-35G>T) c.404-35G>T (n.404-35G>T) n.606-35G>T | |
11 | g.17527075C>G | CA2612675292 | USH1C | c.497-35G>C (n.497-35G>C) c.530-35G>C (n.530-35G>C) c.404-35G>C (n.404-35G>C) n.606-35G>C | gnomAD v4 |
11 | g.17527075_17527076insGC | CA2612675296 | USH1C | c.497-35_497-34insCG (n.497-35_497-34insCG) c.530-35_530-34insCG (n.530-35_530-34insCG) c.404-35_404-34insCG (n.404-35_404-34insCG) n.606-35_606-34insCG | gnomAD v4 |
11 | g.17527076_17527077insGCC | CA2612675297 | USH1C | c.497-35_497-34insCGG (n.497-35_497-34insCGG) c.530-35_530-34insCGG (n.530-35_530-34insCGG) c.404-35_404-34insCGG (n.404-35_404-34insCGG) n.606-35_606-34insCGG | gnomAD v4 |
11 | g.17527075_17527102del | CA2612675293 | USH1C | c.497-62_497-35del (n.497-62_497-35del) c.530-62_530-35del (n.530-62_530-35del) c.404-62_404-35del (n.404-62_404-35del) n.606-62_606-35del | gnomAD v4 |
11 | g.17527075_17527118delinsCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCT | CA1955186907 | USH1C | c.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) n.606-78_606-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG | |
11 | g.17527075_17527076insA | CA2790593445 | USH1C | c.497-36_497-35insT (n.497-36_497-35insT) c.530-36_530-35insT (n.530-36_530-35insT) c.404-36_404-35insT (n.404-36_404-35insT) n.606-36_606-35insT | |
11 | g.17527075_17527076insG | CA2612675301 | USH1C | c.497-36_497-35insC (n.497-36_497-35insC) c.530-36_530-35insC (n.530-36_530-35insC) c.404-36_404-35insC (n.404-36_404-35insC) n.606-36_606-35insC | gnomAD v4 |
11 | g.17527075_17527076insGG | CA2612675302 | USH1C | c.497-36_497-35insCC (n.497-36_497-35insCC) c.530-36_530-35insCC (n.530-36_530-35insCC) c.404-36_404-35insCC (n.404-36_404-35insCC) n.606-36_606-35insCC | gnomAD v4 |
11 | g.17527075_17527076insACA | CA2790593444 | USH1C | c.497-36_497-35insTGT (n.497-36_497-35insTGT) c.530-36_530-35insTGT (n.530-36_530-35insTGT) c.404-36_404-35insTGT (n.404-36_404-35insTGT) n.606-36_606-35insTGT | |
11 | g.17527075_17527076insACT | CA2790593438 | USH1C | c.497-36_497-35insAGT (n.497-36_497-35insAGT) c.530-36_530-35insAGT (n.530-36_530-35insAGT) c.404-36_404-35insAGT (n.404-36_404-35insAGT) n.606-36_606-35insAGT | |
11 | g.17527075_17527076insAGA | CA2790593443 | USH1C | c.497-36_497-35insTCT (n.497-36_497-35insTCT) c.530-36_530-35insTCT (n.530-36_530-35insTCT) c.404-36_404-35insTCT (n.404-36_404-35insTCT) n.606-36_606-35insTCT | |
11 | g.17527075_17527076insAGT | CA2790593442 | USH1C | c.497-36_497-35insACT (n.497-36_497-35insACT) c.530-36_530-35insACT (n.530-36_530-35insACT) c.404-36_404-35insACT (n.404-36_404-35insACT) n.606-36_606-35insACT | |
11 | g.17527076C>A | CA5905005 | USH1C | c.497-36G>T (n.497-36G>T) c.530-36G>T (n.530-36G>T) c.404-36G>T (n.404-36G>T) n.606-36G>T | dbSNP ExAC gnomAD v4 |
11 | g.17527076C= | CA1955186908 | USH1C | c.497-36G= (n.497-36G=) c.530-36G= (n.530-36G=) c.404-36G= (n.404-36G=) n.606-36G= | |
11 | g.17527076C>G | CA2612675304 | USH1C | c.497-36G>C (n.497-36G>C) c.530-36G>C (n.530-36G>C) c.404-36G>C (n.404-36G>C) n.606-36G>C | gnomAD v4 |
11 | g.17527076C>T | CA2612675306 | USH1C | c.497-36G>A (n.497-36G>A) c.530-36G>A (n.530-36G>A) c.404-36G>A (n.404-36G>A) n.606-36G>A | gnomAD v4 |
11 | g.17527076_17527077insAC | CA2790593441 | USH1C | c.497-36_497-35insTG (n.497-36_497-35insTG) c.530-36_530-35insTG (n.530-36_530-35insTG) c.404-36_404-35insTG (n.404-36_404-35insTG) n.606-36_606-35insTG | |
11 | g.17527076_17527077insGC | CA2612675300 | USH1C | c.497-36_497-35insCG (n.497-36_497-35insCG) c.530-36_530-35insCG (n.530-36_530-35insCG) c.404-36_404-35insCG (n.404-36_404-35insCG) n.606-36_606-35insCG | gnomAD v4 |
11 | g.17527076_17527102del | CA2612675303 | USH1C | c.497-62_497-36del (n.497-62_497-36del) c.530-62_530-36del (n.530-62_530-36del) c.404-62_404-36del (n.404-62_404-36del) n.606-62_606-36del | gnomAD v4 |
11 | g.17527079_17527121del | CA918828296 | USH1C | c.497-78_497-36del (n.497-78_497-36del) c.530-78_530-36del (n.530-78_530-36del) c.404-78_404-36del (n.404-78_404-36del) n.606-78_606-36del | dbSNP |
11 | g.17527076_17527077insA | CA2790593446 | USH1C | c.497-37_497-36insT (n.497-37_497-36insT) c.530-37_530-36insT (n.530-37_530-36insT) c.404-37_404-36insT (n.404-37_404-36insT) n.606-37_606-36insT | |
11 | g.17527076_17527077insG | CA2612675311 | USH1C | c.497-37_497-36insC (n.497-37_497-36insC) c.530-37_530-36insC (n.530-37_530-36insC) c.404-37_404-36insC (n.404-37_404-36insC) n.606-37_606-36insC | gnomAD v4 |
11 | g.17527076_17527077insAGA | CA2790593448 | USH1C | c.497-37_497-36insTCT (n.497-37_497-36insTCT) c.530-37_530-36insTCT (n.530-37_530-36insTCT) c.404-37_404-36insTCT (n.404-37_404-36insTCT) n.606-37_606-36insTCT | |
11 | g.17527076_17527077insAGT | CA2790593449 | USH1C | c.497-37_497-36insACT (n.497-37_497-36insACT) c.530-37_530-36insACT (n.530-37_530-36insACT) c.404-37_404-36insACT (n.404-37_404-36insACT) n.606-37_606-36insACT | |
11 | g.17527077C>A | CA2612675312 | USH1C | c.497-37G>T (n.497-37G>T) c.530-37G>T (n.530-37G>T) c.404-37G>T (n.404-37G>T) n.606-37G>T | gnomAD v4 |
11 | g.17527077C= | CA1955186909 | USH1C | c.497-37G= (n.497-37G=) c.530-37G= (n.530-37G=) c.404-37G= (n.404-37G=) n.606-37G= | |
11 | g.17527077C>G | CA2612675313 | USH1C | c.497-37G>C (n.497-37G>C) c.530-37G>C (n.530-37G>C) c.404-37G>C (n.404-37G>C) n.606-37G>C | gnomAD v4 |
11 | g.17527077C>T | CA597668794 | USH1C | c.497-37G>A (n.497-37G>A) c.530-37G>A (n.530-37G>A) c.404-37G>A (n.404-37G>A) n.606-37G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527077_17527078insACA | CA2790593451 | USH1C | c.497-38_497-37insTGT (n.497-38_497-37insTGT) c.530-38_530-37insTGT (n.530-38_530-37insTGT) c.404-38_404-37insTGT (n.404-38_404-37insTGT) n.606-38_606-37insTGT | |
11 | g.17527078C>A | CA597668796 | USH1C | c.497-38G>T (n.497-38G>T) c.530-38G>T (n.530-38G>T) c.404-38G>T (n.404-38G>T) n.606-38G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078C= | CA1955186911 | USH1C | c.497-38G= (n.497-38G=) c.530-38G= (n.530-38G=) c.404-38G= (n.404-38G=) n.606-38G= | |
11 | g.17527078C>T | CA5905006 | USH1C | c.497-38G>A (n.497-38G>A) c.530-38G>A (n.530-38G>A) c.404-38G>A (n.404-38G>A) n.606-38G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCAC | CA2612675318 | USH1C | c.497-38_497-37insTGGGGGG (n.497-38_497-37insTGGGGGG) c.530-38_530-37insTGGGGGG (n.530-38_530-37insTGGGGGG) c.404-38_404-37insTGGGGGG (n.404-38_404-37insTGGGGGG) n.606-38_606-37insTGGGGGG | gnomAD v4 |
11 | g.17527078_17527079delinsCG | CA1955186910 | USH1C | c.497-39_497-38delinsCG (n.497-39_497-38delinsCG) c.530-39_530-38delinsCG (n.530-39_530-38delinsCG) c.404-39_404-38delinsCG (n.404-39_404-38delinsCG) n.606-39_606-38delinsCG | |
11 | g.17527079_17527080del | CA2574769469 | USH1C | c.497-39_497-38del (n.497-39_497-38del) c.530-39_530-38del (n.530-39_530-38del) c.404-39_404-38del (n.404-39_404-38del) n.606-39_606-38del | |
11 | g.17527078_17527079insA | CA2612675326 | USH1C | c.497-39_497-38insT (n.497-39_497-38insT) c.530-39_530-38insT (n.530-39_530-38insT) c.404-39_404-38insT (n.404-39_404-38insT) n.606-39_606-38insT | gnomAD v4 |
11 | g.17527078_17527079insACA | CA2790593455 | USH1C | c.497-39_497-38insTGT (n.497-39_497-38insTGT) c.530-39_530-38insTGT (n.530-39_530-38insTGT) c.404-39_404-38insTGT (n.404-39_404-38insTGT) n.606-39_606-38insTGT | |
11 | g.17527078_17527079insAGA | CA2790593456 | USH1C | c.497-39_497-38insTCT (n.497-39_497-38insTCT) c.530-39_530-38insTCT (n.530-39_530-38insTCT) c.404-39_404-38insTCT (n.404-39_404-38insTCT) n.606-39_606-38insTCT | |
11 | g.17527078_17527079insAGT | CA2790593457 | USH1C | c.497-39_497-38insACT (n.497-39_497-38insACT) c.530-39_530-38insACT (n.530-39_530-38insACT) c.404-39_404-38insACT (n.404-39_404-38insACT) n.606-39_606-38insACT | |
11 | g.17527079del | CA597668799 | USH1C | c.497-39del (n.497-39del) c.530-39del (n.530-39del) c.404-39del (n.404-39del) n.606-39del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527079G>A | CA597668801 | USH1C | c.497-39C>T (n.497-39C>T) c.530-39C>T (n.530-39C>T) c.404-39C>T (n.404-39C>T) n.606-39C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527079G>C | CA5905007 | USH1C | c.497-39C>G (n.497-39C>G) c.530-39C>G (n.530-39C>G) c.404-39C>G (n.404-39C>G) n.606-39C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527079G= | CA1955186912 | USH1C | c.497-39C= (n.497-39C=) c.530-39C= (n.530-39C=) c.404-39C= (n.404-39C=) n.606-39C= | |
11 | g.17527079G>T | CA2612675327 | USH1C | c.497-39C>A (n.497-39C>A) c.530-39C>A (n.530-39C>A) c.404-39C>A (n.404-39C>A) n.606-39C>A | gnomAD v4 |
11 | g.17527079dup | CA2612675323 | USH1C | c.497-39dup (n.497-39dup) c.530-39dup (n.530-39dup) c.404-39dup (n.404-39dup) n.606-39dup | gnomAD v4 |
11 | g.17527079_17527080insAGT | CA2790593463 | USH1C | c.497-40_497-39insACT (n.497-40_497-39insACT) c.530-40_530-39insACT (n.530-40_530-39insACT) c.404-40_404-39insACT (n.404-40_404-39insACT) n.606-40_606-39insACT | |
11 | g.17527080C>A | CA935547081 | USH1C | c.497-40G>T (n.497-40G>T) c.530-40G>T (n.530-40G>T) c.404-40G>T (n.404-40G>T) n.606-40G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527080C= | CA1955186913 | USH1C | c.497-40G= (n.497-40G=) c.530-40G= (n.530-40G=) c.404-40G= (n.404-40G=) n.606-40G= | |
11 | g.17527080C>G | CA2790593461 | USH1C | c.497-40G>C (n.497-40G>C) c.530-40G>C (n.530-40G>C) c.404-40G>C (n.404-40G>C) n.606-40G>C | |
11 | g.17527080C>T | CA597668805 | USH1C | c.497-40G>A (n.497-40G>A) c.530-40G>A (n.530-40G>A) c.404-40G>A (n.404-40G>A) n.606-40G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527082_17527083insCCCCCCC | CA2612675335 | USH1C | c.497-40_497-39insGGGGGGG (n.497-40_497-39insGGGGGGG) c.530-40_530-39insGGGGGGG (n.530-40_530-39insGGGGGGG) c.404-40_404-39insGGGGGGG (n.404-40_404-39insGGGGGGG) n.606-40_606-39insGGGGGGG | gnomAD v4 |
11 | g.17527082dup | CA2612675337 | USH1C | c.497-40dup (n.497-40dup) c.530-40dup (n.530-40dup) c.404-40dup (n.404-40dup) n.606-40dup | gnomAD v4 |
11 | g.17527081_17527082dup | CA2612675336 | USH1C | c.497-41_497-40dup (n.497-41_497-40dup) c.530-41_530-40dup (n.530-41_530-40dup) c.404-41_404-40dup (n.404-41_404-40dup) n.606-41_606-40dup | gnomAD v4 |
11 | g.17527080_17527094del | CA2790593460 | USH1C | c.497-54_497-40del (n.497-54_497-40del) c.530-54_530-40del (n.530-54_530-40del) c.404-54_404-40del (n.404-54_404-40del) n.606-54_606-40del | |
11 | g.17527091_17527094dup | CA2612675334 | USH1C | c.497-43_497-40dup (n.497-43_497-40dup) c.530-43_530-40dup (n.530-43_530-40dup) c.404-43_404-40dup (n.404-43_404-40dup) n.606-43_606-40dup | gnomAD v4 |
11 | g.17527091_17527094del | CA597668804 | USH1C | c.497-43_497-40del (n.497-43_497-40del) c.530-43_530-40del (n.530-43_530-40del) c.404-43_404-40del (n.404-43_404-40del) n.606-43_606-40del | gnomAD v2 gnomAD v4 |
11 | g.17527087_17527094del | CA2612675333 | USH1C | c.497-47_497-40del (n.497-47_497-40del) c.530-47_530-40del (n.530-47_530-40del) c.404-47_404-40del (n.404-47_404-40del) n.606-47_606-40del | gnomAD v4 |
11 | g.17527080_17527115del | CA2612675332 | USH1C | c.497-75_497-40del (n.497-75_497-40del) c.530-75_530-40del (n.530-75_530-40del) c.404-75_404-40del (n.404-75_404-40del) n.606-75_606-40del | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675338 | USH1C | c.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-40_606-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527080_17527081insA | CA2790593464 | USH1C | c.497-41_497-40insT (n.497-41_497-40insT) c.530-41_530-40insT (n.530-41_530-40insT) c.404-41_404-40insT (n.404-41_404-40insT) n.606-41_606-40insT | |
11 | g.17527081C>A | CA2790593465 | USH1C | c.497-41G>T (n.497-41G>T) c.530-41G>T (n.530-41G>T) c.404-41G>T (n.404-41G>T) n.606-41G>T | |
11 | g.17527081C>G | CA2790593466 | USH1C | c.497-41G>C (n.497-41G>C) c.530-41G>C (n.530-41G>C) c.404-41G>C (n.404-41G>C) n.606-41G>C | |
11 | g.17527081C>T | CA2790593467 | USH1C | c.497-41G>A (n.497-41G>A) c.530-41G>A (n.530-41G>A) c.404-41G>A (n.404-41G>A) n.606-41G>A | |
11 | g.17527081_17527082insACA | CA2790593468 | USH1C | c.497-42_497-41insTGT (n.497-42_497-41insTGT) c.530-42_530-41insTGT (n.530-42_530-41insTGT) c.404-42_404-41insTGT (n.404-42_404-41insTGT) n.606-42_606-41insTGT | |
11 | g.17527081_17527082insAGAG | CA2790593470 | USH1C | c.497-42_497-41insCTCT (n.497-42_497-41insCTCT) c.530-42_530-41insCTCT (n.530-42_530-41insCTCT) c.404-42_404-41insCTCT (n.404-42_404-41insCTCT) n.606-42_606-41insCTCT | |
11 | g.17527082C>A | CA2574769471 | USH1C | c.497-42G>T (n.497-42G>T) c.530-42G>T (n.530-42G>T) c.404-42G>T (n.404-42G>T) n.606-42G>T | |
11 | g.17527082C>G | CA2790593469 | USH1C | c.497-42G>C (n.497-42G>C) c.530-42G>C (n.530-42G>C) c.404-42G>C (n.404-42G>C) n.606-42G>C | |
11 | g.17527082C>T | CA2612675341 | USH1C | c.497-42G>A (n.497-42G>A) c.530-42G>A (n.530-42G>A) c.404-42G>A (n.404-42G>A) n.606-42G>A | gnomAD v4 |
11 | g.17527082_17527083delinsCT | CA1955186914 | USH1C | c.497-43_497-42delinsAG (n.497-43_497-42delinsAG) c.530-43_530-42delinsAG (n.530-43_530-42delinsAG) c.404-43_404-42delinsAG (n.404-43_404-42delinsAG) n.606-43_606-42delinsAG | |
11 | g.17527083_17527084del | CA2612675339 | USH1C | c.497-43_497-42del (n.497-43_497-42del) c.530-43_530-42del (n.530-43_530-42del) c.404-43_404-42del (n.404-43_404-42del) n.606-43_606-42del | gnomAD v4 |
11 | g.17527083_17527092del | CA2612675340 | USH1C | c.497-51_497-42del (n.497-51_497-42del) c.530-51_530-42del (n.530-51_530-42del) c.404-51_404-42del (n.404-51_404-42del) n.606-51_606-42del | gnomAD v4 |
11 | g.17527082_17527083insAGT | CA2790593472 | USH1C | c.497-43_497-42insACT (n.497-43_497-42insACT) c.530-43_530-42insACT (n.530-43_530-42insACT) c.404-43_404-42insACT (n.404-43_404-42insACT) n.606-43_606-42insACT | |
11 | g.17527083del | CA597668808 | USH1C | c.497-43del (n.497-43del) c.530-43del (n.530-43del) c.404-43del (n.404-43del) n.606-43del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527083T>A | CA2790593474 | USH1C | c.497-43A>T (n.497-43A>T) c.530-43A>T (n.530-43A>T) c.404-43A>T (n.404-43A>T) n.606-43A>T | |
11 | g.17527083T>C | CA5905008 | USH1C | c.497-43A>G (n.497-43A>G) c.530-43A>G (n.530-43A>G) c.404-43A>G (n.404-43A>G) n.606-43A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527083T>G | CA2574769473 | USH1C | c.497-43A>C (n.497-43A>C) c.530-43A>C (n.530-43A>C) c.404-43A>C (n.404-43A>C) n.606-43A>C | gnomAD v4 |
11 | g.17527083T= | CA1955186915 | USH1C | c.497-43A= (n.497-43A=) c.530-43A= (n.530-43A=) c.404-43A= (n.404-43A=) n.606-43A= | |
11 | g.17527083_17527087del | CA2612675346 | USH1C | c.497-47_497-43del (n.497-47_497-43del) c.530-47_530-43del (n.530-47_530-43del) c.404-47_404-43del (n.404-47_404-43del) n.606-47_606-43del | gnomAD v4 |
11 | g.17527083_17527091del | CA2612675343 | USH1C | c.497-51_497-43del (n.497-51_497-43del) c.530-51_530-43del (n.530-51_530-43del) c.404-51_404-43del (n.404-51_404-43del) n.606-51_606-43del | gnomAD v4 |
11 | g.17527083_17527107del | CA2790593473 | USH1C | c.497-67_497-43del (n.497-67_497-43del) c.530-67_530-43del (n.530-67_530-43del) c.404-67_404-43del (n.404-67_404-43del) n.606-67_606-43del | |
11 | g.17527083_17527118del | CA2612675345 | USH1C | c.497-78_497-43del (n.497-78_497-43del) c.530-78_530-43del (n.530-78_530-43del) c.404-78_404-43del (n.404-78_404-43del) n.606-78_606-43del | gnomAD v4 |
11 | g.17527083_17527084insAGA | CA2790593476 | USH1C | c.497-44_497-43insTCT (n.497-44_497-43insTCT) c.530-44_530-43insTCT (n.530-44_530-43insTCT) c.404-44_404-43insTCT (n.404-44_404-43insTCT) n.606-44_606-43insTCT | |
11 | g.17527084C>A | CA1955186917 | USH1C | c.497-44G>T (n.497-44G>T) c.530-44G>T (n.530-44G>T) c.404-44G>T (n.404-44G>T) n.606-44G>T | dbSNP gnomAD v4 |
11 | g.17527084C= | CA1955186916 | USH1C | c.497-44G= (n.497-44G=) c.530-44G= (n.530-44G=) c.404-44G= (n.404-44G=) n.606-44G= | |
11 | g.17527086del | CA2790593477 | USH1C | c.497-44del (n.497-44del) c.530-44del (n.530-44del) c.404-44del (n.404-44del) n.606-44del | |
11 | g.17527086_17527094del | CA2790593478 | USH1C | c.497-52_497-44del (n.497-52_497-44del) c.530-52_530-44del (n.530-52_530-44del) c.404-52_404-44del (n.404-52_404-44del) n.606-52_606-44del | |
11 | g.17527095_17527135del | CA2612675349 | USH1C | c.497-84_497-44del (n.497-84_497-44del) c.530-84_530-44del (n.530-84_530-44del) c.404-84_404-44del (n.404-84_404-44del) n.606-84_606-44del | gnomAD v4 |
11 | g.17527084_17527085insAA | CA2790593479 | USH1C | c.497-45_497-44insTT (n.497-45_497-44insTT) c.530-45_530-44insTT (n.530-45_530-44insTT) c.404-45_404-44insTT (n.404-45_404-44insTT) n.606-45_606-44insTT | |
11 | g.17527085C>A | CA2612675352 | USH1C | c.497-45G>T (n.497-45G>T) c.530-45G>T (n.530-45G>T) c.404-45G>T (n.404-45G>T) n.606-45G>T | gnomAD v4 |
11 | g.17527085C= | CA1955186918 | USH1C | c.497-45G= (n.497-45G=) c.530-45G= (n.530-45G=) c.404-45G= (n.404-45G=) n.606-45G= | |
11 | g.17527085C>G | CA2790593480 | USH1C | c.497-45G>C (n.497-45G>C) c.530-45G>C (n.530-45G>C) c.404-45G>C (n.404-45G>C) n.606-45G>C | |
11 | g.17527085C>T | CA5905009 | USH1C | c.497-45G>A (n.497-45G>A) c.530-45G>A (n.530-45G>A) c.404-45G>A (n.404-45G>A) n.606-45G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527085_17527104del | CA2790593481 | USH1C | c.497-64_497-45del (n.497-64_497-45del) c.530-64_530-45del (n.530-64_530-45del) c.404-64_404-45del (n.404-64_404-45del) n.606-64_606-45del | |
11 | g.17527085_17527086insACA | CA2790593482 | USH1C | c.497-46_497-45insTGT (n.497-46_497-45insTGT) c.530-46_530-45insTGT (n.530-46_530-45insTGT) c.404-46_404-45insTGT (n.404-46_404-45insTGT) n.606-46_606-45insTGT | |
11 | g.17527086C>A | CA2612675356 | USH1C | c.497-46G>T (n.497-46G>T) c.530-46G>T (n.530-46G>T) c.404-46G>T (n.404-46G>T) n.606-46G>T | gnomAD v4 |
11 | g.17527086C= | CA1955186920 | USH1C | c.497-46G= (n.497-46G=) c.530-46G= (n.530-46G=) c.404-46G= (n.404-46G=) n.606-46G= | |
11 | g.17527086C>G | CA2790593484 | USH1C | c.497-46G>C (n.497-46G>C) c.530-46G>C (n.530-46G>C) c.404-46G>C (n.404-46G>C) n.606-46G>C | |
11 | g.17527086C>T | CA1955186921 | USH1C | c.497-46G>A (n.497-46G>A) c.530-46G>A (n.530-46G>A) c.404-46G>A (n.404-46G>A) n.606-46G>A | dbSNP |
11 | g.17527086_17527087insCAC | CA2612675358 | USH1C | c.497-46_497-45insTGG (n.497-46_497-45insTGG) c.530-46_530-45insTGG (n.530-46_530-45insTGG) c.404-46_404-45insTGG (n.404-46_404-45insTGG) n.606-46_606-45insTGG | gnomAD v4 |
11 | g.17527086_17527087insCCCCCAC | CA2612675357 | USH1C | c.497-46_497-45insTGGGGGG (n.497-46_497-45insTGGGGGG) c.530-46_530-45insTGGGGGG (n.530-46_530-45insTGGGGGG) c.404-46_404-45insTGGGGGG (n.404-46_404-45insTGGGGGG) n.606-46_606-45insTGGGGGG | gnomAD v4 |
11 | g.17527086_17527087delinsCT | CA1955186919 | USH1C | c.497-47_497-46delinsAG (n.497-47_497-46delinsAG) c.530-47_530-46delinsAG (n.530-47_530-46delinsAG) c.404-47_404-46delinsAG (n.404-47_404-46delinsAG) n.606-47_606-46delinsAG | |
11 | g.17527087_17527088del | CA2612675359 | USH1C | c.497-47_497-46del (n.497-47_497-46del) c.530-47_530-46del (n.530-47_530-46del) c.404-47_404-46del (n.404-47_404-46del) n.606-47_606-46del | gnomAD v4 |
11 | g.17527086_17527104del | CA2790593483 | USH1C | c.497-64_497-46del (n.497-64_497-46del) c.530-64_530-46del (n.530-64_530-46del) c.404-64_404-46del (n.404-64_404-46del) n.606-64_606-46del | |
11 | g.17527086_17527087insAG | CA2790593492 | USH1C | c.497-47_497-46insCT (n.497-47_497-46insCT) c.530-47_530-46insCT (n.530-47_530-46insCT) c.404-47_404-46insCT (n.404-47_404-46insCT) n.606-47_606-46insCT | |
11 | g.17527086_17527087insAGT | CA2790593490 | USH1C | c.497-47_497-46insACT (n.497-47_497-46insACT) c.530-47_530-46insACT (n.530-47_530-46insACT) c.404-47_404-46insACT (n.404-47_404-46insACT) n.606-47_606-46insACT | |
11 | g.17527086_17527087insCCA | CA2612675361 | USH1C | c.497-47_497-46insTGG (n.497-47_497-46insTGG) c.530-47_530-46insTGG (n.530-47_530-46insTGG) c.404-47_404-46insTGG (n.404-47_404-46insTGG) n.606-47_606-46insTGG | gnomAD v4 |
11 | g.17527086_17527087insCCCCCCA | CA2612675362 | USH1C | c.497-47_497-46insTGGGGGG (n.497-47_497-46insTGGGGGG) c.530-47_530-46insTGGGGGG (n.530-47_530-46insTGGGGGG) c.404-47_404-46insTGGGGGG (n.404-47_404-46insTGGGGGG) n.606-47_606-46insTGGGGGG | gnomAD v4 |
11 | g.17527087del | CA597668810 | USH1C | c.497-47del (n.497-47del) c.530-47del (n.530-47del) c.404-47del (n.404-47del) n.606-47del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527087T>A | CA2574769476 | USH1C | c.497-47A>T (n.497-47A>T) c.530-47A>T (n.530-47A>T) c.404-47A>T (n.404-47A>T) n.606-47A>T | gnomAD v4 |
11 | g.17527087T>C | CA5905010 | USH1C | c.497-47A>G (n.497-47A>G) c.530-47A>G (n.530-47A>G) c.404-47A>G (n.404-47A>G) n.606-47A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527087T= | CA1955186922 | USH1C | c.497-47A= (n.497-47A=) c.530-47A= (n.530-47A=) c.404-47A= (n.404-47A=) n.606-47A= | |
11 | g.17527087_17527091del | CA2612675364 | USH1C | c.497-51_497-47del (n.497-51_497-47del) c.530-51_530-47del (n.530-51_530-47del) c.404-51_404-47del (n.404-51_404-47del) n.606-51_606-47del | gnomAD v4 |
11 | g.17527087_17527104del | CA2790593489 | USH1C | c.497-64_497-47del (n.497-64_497-47del) c.530-64_530-47del (n.530-64_530-47del) c.404-64_404-47del (n.404-64_404-47del) n.606-64_606-47del | |
11 | g.17527087_17527118del | CA2612675366 | USH1C | c.497-78_497-47del (n.497-78_497-47del) c.530-78_530-47del (n.530-78_530-47del) c.404-78_404-47del (n.404-78_404-47del) n.606-78_606-47del | dbSNP gnomAD v4 |
11 | g.17527087_17527088insACA | CA2790593493 | USH1C | c.497-48_497-47insTGT (n.497-48_497-47insTGT) c.530-48_530-47insTGT (n.530-48_530-47insTGT) c.404-48_404-47insTGT (n.404-48_404-47insTGT) n.606-48_606-47insTGT | |
11 | g.17527088C>A | CA2612675372 | USH1C | c.497-48G>T (n.497-48G>T) c.530-48G>T (n.530-48G>T) c.404-48G>T (n.404-48G>T) n.606-48G>T | gnomAD v4 |
11 | g.17527088C= | CA1955186923 | USH1C | c.497-48G= (n.497-48G=) c.530-48G= (n.530-48G=) c.404-48G= (n.404-48G=) n.606-48G= | |
11 | g.17527088C>G | CA2790593497 | USH1C | c.497-48G>C (n.497-48G>C) c.530-48G>C (n.530-48G>C) c.404-48G>C (n.404-48G>C) n.606-48G>C | |
11 | g.17527088C>T | CA597668812 | USH1C | c.497-48G>A (n.497-48G>A) c.530-48G>A (n.530-48G>A) c.404-48G>A (n.404-48G>A) n.606-48G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527088_17527094del | CA2790593496 | USH1C | c.497-54_497-48del (n.497-54_497-48del) c.530-54_530-48del (n.530-54_530-48del) c.404-54_404-48del (n.404-54_404-48del) n.606-54_606-48del | |
11 | g.17527090_17527094del | CA2790593494 | USH1C | c.497-52_497-48del (n.497-52_497-48del) c.530-52_530-48del (n.530-52_530-48del) c.404-52_404-48del (n.404-52_404-48del) n.606-52_606-48del | |
11 | g.17527090_17527097del | CA2612675371 | USH1C | c.497-55_497-48del (n.497-55_497-48del) c.530-55_530-48del (n.530-55_530-48del) c.404-55_404-48del (n.404-55_404-48del) n.606-55_606-48del | gnomAD v4 |
11 | g.17527088_17527089insA | CA2790593499 | USH1C | c.497-49_497-48insT (n.497-49_497-48insT) c.530-49_530-48insT (n.530-49_530-48insT) c.404-49_404-48insT (n.404-49_404-48insT) n.606-49_606-48insT | |
11 | g.17527088_17527089insAGAG | CA2790593500 | USH1C | c.497-49_497-48insCTCT (n.497-49_497-48insCTCT) c.530-49_530-48insCTCT (n.530-49_530-48insCTCT) c.404-49_404-48insCTCT (n.404-49_404-48insCTCT) n.606-49_606-48insCTCT | |
11 | g.17527089C>A | CA1955186925 | USH1C | c.497-49G>T (n.497-49G>T) c.530-49G>T (n.530-49G>T) c.404-49G>T (n.404-49G>T) n.606-49G>T | dbSNP |
11 | g.17527089C= | CA1955186924 | USH1C | c.497-49G= (n.497-49G=) c.530-49G= (n.530-49G=) c.404-49G= (n.404-49G=) n.606-49G= | |
11 | g.17527089C>G | CA935547091 | USH1C | c.497-49G>C (n.497-49G>C) c.530-49G>C (n.530-49G>C) c.404-49G>C (n.404-49G>C) n.606-49G>C | gnomAD v3 gnomAD v4 |
11 | g.17527089C>T | CA597668813 | USH1C | c.497-49G>A (n.497-49G>A) c.530-49G>A (n.530-49G>A) c.404-49G>A (n.404-49G>A) n.606-49G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527090_17527091insCACC | CA2612675377 | USH1C | c.497-49_497-48insTGGG (n.497-49_497-48insTGGG) c.530-49_530-48insTGGG (n.530-49_530-48insTGGG) c.404-49_404-48insTGGG (n.404-49_404-48insTGGG) n.606-49_606-48insTGGG | gnomAD v4 |
11 | g.17527089_17527104del | CA2790593501 | USH1C | c.497-64_497-49del (n.497-64_497-49del) c.530-64_530-49del (n.530-64_530-49del) c.404-64_404-49del (n.404-64_404-49del) n.606-64_606-49del | |
11 | g.17527089_17527090insA | CA2790593504 | USH1C | c.497-50_497-49insT (n.497-50_497-49insT) c.530-50_530-49insT (n.530-50_530-49insT) c.404-50_404-49insT (n.404-50_404-49insT) n.606-50_606-49insT | |
11 | g.17527089_17527090insAGT | CA2790593505 | USH1C | c.497-50_497-49insACT (n.497-50_497-49insACT) c.530-50_530-49insACT (n.530-50_530-49insACT) c.404-50_404-49insACT (n.404-50_404-49insACT) n.606-50_606-49insACT | |
11 | g.17527090C>A | CA2612675380 | USH1C | c.497-50G>T (n.497-50G>T) c.530-50G>T (n.530-50G>T) c.404-50G>T (n.404-50G>T) n.606-50G>T | gnomAD v4 |
11 | g.17527090C= | CA1955186926 | USH1C | c.497-50G= (n.497-50G=) c.530-50G= (n.530-50G=) c.404-50G= (n.404-50G=) n.606-50G= | |
11 | g.17527090C>G | CA2790593503 | USH1C | c.497-50G>C (n.497-50G>C) c.530-50G>C (n.530-50G>C) c.404-50G>C (n.404-50G>C) n.606-50G>C | |
11 | g.17527090C>T | CA5905011 | USH1C | c.497-50G>A (n.497-50G>A) c.530-50G>A (n.530-50G>A) c.404-50G>A (n.404-50G>A) n.606-50G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527090_17527091insCAC | CA2612675379 | USH1C | c.497-50_497-49insTGG (n.497-50_497-49insTGG) c.530-50_530-49insTGG (n.530-50_530-49insTGG) c.404-50_404-49insTGG (n.404-50_404-49insTGG) n.606-50_606-49insTGG | gnomAD v4 |
11 | g.17527090_17527091insCA | CA2612675388 | USH1C | c.497-51_497-50insTG (n.497-51_497-50insTG) c.530-51_530-50insTG (n.530-51_530-50insTG) c.404-51_404-50insTG (n.404-51_404-50insTG) n.606-51_606-50insTG | gnomAD v4 |
11 | g.17527090_17527091insACA | CA2790593506 | USH1C | c.497-51_497-50insTGT (n.497-51_497-50insTGT) c.530-51_530-50insTGT (n.530-51_530-50insTGT) c.404-51_404-50insTGT (n.404-51_404-50insTGT) n.606-51_606-50insTGT | |
11 | g.17527091del | CA2612675389 | USH1C | c.497-51del (n.497-51del) c.530-51del (n.530-51del) c.404-51del (n.404-51del) n.606-51del | gnomAD v4 |
11 | g.17527091T>A | CA2574769479 | USH1C | c.497-51A>T (n.497-51A>T) c.530-51A>T (n.530-51A>T) c.404-51A>T (n.404-51A>T) n.606-51A>T | gnomAD v4 |
11 | g.17527091T>C | CA5905012 | USH1C | c.497-51A>G (n.497-51A>G) c.530-51A>G (n.530-51A>G) c.404-51A>G (n.404-51A>G) n.606-51A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527091T>G | CA935547096 | USH1C | c.497-51A>C (n.497-51A>C) c.530-51A>C (n.530-51A>C) c.404-51A>C (n.404-51A>C) n.606-51A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527091T= | CA1955186927 | USH1C | c.497-51A= (n.497-51A=) c.530-51A= (n.530-51A=) c.404-51A= (n.404-51A=) n.606-51A= | |
11 | g.17527091_17527104del | CA2790593507 | USH1C | c.497-64_497-51del (n.497-64_497-51del) c.530-64_530-51del (n.530-64_530-51del) c.404-64_404-51del (n.404-64_404-51del) n.606-64_606-51del | |
11 | g.17527091_17527118del | CA2612675390 | USH1C | c.497-78_497-51del (n.497-78_497-51del) c.530-78_530-51del (n.530-78_530-51del) c.404-78_404-51del (n.404-78_404-51del) n.606-78_606-51del | gnomAD v4 |
11 | g.17527092C>A | CA935547098 | USH1C | c.497-52G>T (n.497-52G>T) c.530-52G>T (n.530-52G>T) c.404-52G>T (n.404-52G>T) n.606-52G>T | gnomAD v3 gnomAD v4 |
11 | g.17527092C= | CA1955186928 | USH1C | c.497-52G= (n.497-52G=) c.530-52G= (n.530-52G=) c.404-52G= (n.404-52G=) n.606-52G= | |
11 | g.17527092C>T | CA5905013 | USH1C | c.497-52G>A (n.497-52G>A) c.530-52G>A (n.530-52G>A) c.404-52G>A (n.404-52G>A) n.606-52G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527092_17527094del | CA2790593509 | USH1C | c.497-54_497-52del (n.497-54_497-52del) c.530-54_530-52del (n.530-54_530-52del) c.404-54_404-52del (n.404-54_404-52del) n.606-54_606-52del | |
11 | g.17527094del | CA2547939751 | USH1C | c.497-52del (n.497-52del) c.530-52del (n.530-52del) c.404-52del (n.404-52del) n.606-52del | |
11 | g.17527092_17527104del | CA2790593510 | USH1C | c.497-64_497-52del (n.497-64_497-52del) c.530-64_530-52del (n.530-64_530-52del) c.404-64_404-52del (n.404-64_404-52del) n.606-64_606-52del | |
11 | g.17527092_17527093insAGT | CA2790593513 | USH1C | c.497-53_497-52insACT (n.497-53_497-52insACT) c.530-53_530-52insACT (n.530-53_530-52insACT) c.404-53_404-52insACT (n.404-53_404-52insACT) n.606-53_606-52insACT | |
11 | g.17527093C>A | CA935547103 | USH1C | c.497-53G>T (n.497-53G>T) c.530-53G>T (n.530-53G>T) c.404-53G>T (n.404-53G>T) n.606-53G>T | gnomAD v3 gnomAD v4 |
11 | g.17527093C>T | CA2612675400 | USH1C | c.497-53G>A (n.497-53G>A) c.530-53G>A (n.530-53G>A) c.404-53G>A (n.404-53G>A) n.606-53G>A | gnomAD v4 |
11 | g.17527093_17527104del | CA2790593511 | USH1C | c.497-64_497-53del (n.497-64_497-53del) c.530-64_530-53del (n.530-64_530-53del) c.404-64_404-53del (n.404-64_404-53del) n.606-64_606-53del | |
11 | g.17527093_17527094insACT | CA2790593515 | USH1C | c.497-54_497-53insAGT (n.497-54_497-53insAGT) c.530-54_530-53insAGT (n.530-54_530-53insAGT) c.404-54_404-53insAGT (n.404-54_404-53insAGT) n.606-54_606-53insAGT | |
11 | g.17527093_17527094insAGAT | CA2790593516 | USH1C | c.497-54_497-53insATCT (n.497-54_497-53insATCT) c.530-54_530-53insATCT (n.530-54_530-53insATCT) c.404-54_404-53insATCT (n.404-54_404-53insATCT) n.606-54_606-53insATCT | |
11 | g.17527094C>T | CA2790593519 | USH1C | c.497-54G>A (n.497-54G>A) c.530-54G>A (n.530-54G>A) c.404-54G>A (n.404-54G>A) n.606-54G>A | |
11 | g.17527094_17527095insCCCCCAC | CA2612675405 | USH1C | c.497-54_497-53insTGGGGGG (n.497-54_497-53insTGGGGGG) c.530-54_530-53insTGGGGGG (n.530-54_530-53insTGGGGGG) c.404-54_404-53insTGGGGGG (n.404-54_404-53insTGGGGGG) n.606-54_606-53insTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAC | CA2612675401 | USH1C | c.497-54_497-53insTGGGGGGG (n.497-54_497-53insTGGGGGGG) c.530-54_530-53insTGGGGGGG (n.530-54_530-53insTGGGGGGG) c.404-54_404-53insTGGGGGGG (n.404-54_404-53insTGGGGGGG) n.606-54_606-53insTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCGC | CA2612675402 | USH1C | c.497-54_497-53insCGGGGGGG (n.497-54_497-53insCGGGGGGG) c.530-54_530-53insCGGGGGGG (n.530-54_530-53insCGGGGGGG) c.404-54_404-53insCGGGGGGG (n.404-54_404-53insCGGGGGGG) n.606-54_606-53insCGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAC | CA2612675403 | USH1C | c.497-54_497-53insTGGGGGGGG (n.497-54_497-53insTGGGGGGGG) c.530-54_530-53insTGGGGGGGG (n.530-54_530-53insTGGGGGGGG) c.404-54_404-53insTGGGGGGGG (n.404-54_404-53insTGGGGGGGG) n.606-54_606-53insTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAC | CA2612675404 | USH1C | c.497-54_497-53insTGGGGGGGGG (n.497-54_497-53insTGGGGGGGGG) c.530-54_530-53insTGGGGGGGGG (n.530-54_530-53insTGGGGGGGGG) c.404-54_404-53insTGGGGGGGGG (n.404-54_404-53insTGGGGGGGGG) n.606-54_606-53insTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527104del | CA2790593518 | USH1C | c.497-64_497-54del (n.497-64_497-54del) c.530-64_530-54del (n.530-64_530-54del) c.404-64_404-54del (n.404-64_404-54del) n.606-64_606-54del | |
11 | g.17527094_17527118delinsCACCGTCATGGAGTACTGACCTGCT | CA1955186929 | USH1C | c.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG) n.606-78_606-54delinsAGCAGGTCAGTACTCCATGACGGTG | |
11 | g.17527094_17527095insCCCCCA | CA2612675425 | USH1C | c.497-55_497-54insTGGGGG (n.497-55_497-54insTGGGGG) c.530-55_530-54insTGGGGG (n.530-55_530-54insTGGGGG) c.404-55_404-54insTGGGGG (n.404-55_404-54insTGGGGG) n.606-55_606-54insTGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAA | CA2612675462 | USH1C | c.497-55_497-54insTTGGGGGG (n.497-55_497-54insTTGGGGGG) c.530-55_530-54insTTGGGGGG (n.530-55_530-54insTTGGGGGG) c.404-55_404-54insTTGGGGGG (n.404-55_404-54insTTGGGGGG) n.606-55_606-54insTTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCA | CA935547145 | USH1C | c.497-55_497-54insTGGGGGGG (n.497-55_497-54insTGGGGGGG) c.530-55_530-54insTGGGGGGG (n.530-55_530-54insTGGGGGGG) c.404-55_404-54insTGGGGGGG (n.404-55_404-54insTGGGGGGG) n.606-55_606-54insTGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAAA | CA2612675465 | USH1C | c.497-55_497-54insTTTGGGGGG (n.497-55_497-54insTTTGGGGGG) c.530-55_530-54insTTTGGGGGG (n.530-55_530-54insTTTGGGGGG) c.404-55_404-54insTTTGGGGGG (n.404-55_404-54insTTTGGGGGG) n.606-55_606-54insTTTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCACA | CA2612675468 | USH1C | c.497-55_497-54insTGTGGGGGG (n.497-55_497-54insTGTGGGGGG) c.530-55_530-54insTGTGGGGGG (n.530-55_530-54insTGTGGGGGG) c.404-55_404-54insTGTGGGGGG (n.404-55_404-54insTGTGGGGGG) n.606-55_606-54insTGTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAA | CA935547143 | USH1C | c.497-55_497-54insTTGGGGGGG (n.497-55_497-54insTTGGGGGGG) c.530-55_530-54insTTGGGGGGG (n.530-55_530-54insTTGGGGGGG) c.404-55_404-54insTTGGGGGGG (n.404-55_404-54insTTGGGGGGG) n.606-55_606-54insTTGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCA | CA2612675479 | USH1C | c.497-55_497-54insTGGGGGGGG (n.497-55_497-54insTGGGGGGGG) c.530-55_530-54insTGGGGGGGG (n.530-55_530-54insTGGGGGGGG) c.404-55_404-54insTGGGGGGGG (n.404-55_404-54insTGGGGGGGG) n.606-55_606-54insTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCT | CA2612675433 | USH1C | c.497-55_497-54insAGGGGGGGG (n.497-55_497-54insAGGGGGGGG) c.530-55_530-54insAGGGGGGGG (n.530-55_530-54insAGGGGGGGG) c.404-55_404-54insAGGGGGGGG (n.404-55_404-54insAGGGGGGGG) n.606-55_606-54insAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAAG | CA2790593531 | USH1C | c.497-55_497-54insCTTGGGGGGG (n.497-55_497-54insCTTGGGGGGG) c.530-55_530-54insCTTGGGGGGG (n.530-55_530-54insCTTGGGGGGG) c.404-55_404-54insCTTGGGGGGG (n.404-55_404-54insCTTGGGGGGG) n.606-55_606-54insCTTGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCAA | CA2790593529 | USH1C | c.497-55_497-54insTTGGGGGGGG (n.497-55_497-54insTTGGGGGGGG) c.530-55_530-54insTTGGGGGGGG (n.530-55_530-54insTTGGGGGGGG) c.404-55_404-54insTTGGGGGGGG (n.404-55_404-54insTTGGGGGGGG) n.606-55_606-54insTTGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCAG | CA2612675486 | USH1C | c.497-55_497-54insCTGGGGGGGG (n.497-55_497-54insCTGGGGGGGG) c.530-55_530-54insCTGGGGGGGG (n.530-55_530-54insCTGGGGGGGG) c.404-55_404-54insCTGGGGGGGG (n.404-55_404-54insCTGGGGGGGG) n.606-55_606-54insCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCA | CA2612675502 | USH1C | c.497-55_497-54insTGGGGGGGGG (n.497-55_497-54insTGGGGGGGGG) c.530-55_530-54insTGGGGGGGGG (n.530-55_530-54insTGGGGGGGGG) c.404-55_404-54insTGGGGGGGGG (n.404-55_404-54insTGGGGGGGGG) n.606-55_606-54insTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAAA | CA2612675482 | USH1C | c.497-55_497-54insTTTGGGGGGGG (n.497-55_497-54insTTTGGGGGGGG) c.530-55_530-54insTTTGGGGGGGG (n.530-55_530-54insTTTGGGGGGGG) c.404-55_404-54insTTTGGGGGGGG (n.404-55_404-54insTTTGGGGGGGG) n.606-55_606-54insTTTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGG | CA2612675470 | USH1C | c.497-55_497-54insCCCCCTGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCATGGGG | CA2592429711 | USH1C | c.497-55_497-54insCCCCATGGGGGGG (n.497-55_497-54insCCCCATGGGGGGG) c.530-55_530-54insCCCCATGGGGGGG (n.530-55_530-54insCCCCATGGGGGGG) c.404-55_404-54insCCCCATGGGGGGG (n.404-55_404-54insCCCCATGGGGGGG) n.606-55_606-54insCCCCATGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGG | CA2612675489 | USH1C | c.497-55_497-54insCCCCTGGGGGGGG (n.497-55_497-54insCCCCTGGGGGGGG) c.530-55_530-54insCCCCTGGGGGGGG (n.530-55_530-54insCCCCTGGGGGGGG) c.404-55_404-54insCCCCTGGGGGGGG (n.404-55_404-54insCCCCTGGGGGGGG) n.606-55_606-54insCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGG | CA2612675518 | USH1C | c.497-55_497-54insCCCCGGGGGGGGG (n.497-55_497-54insCCCCGGGGGGGGG) c.530-55_530-54insCCCCGGGGGGGGG (n.530-55_530-54insCCCCGGGGGGGGG) c.404-55_404-54insCCCCGGGGGGGGG (n.404-55_404-54insCCCCGGGGGGGGG) n.606-55_606-54insCCCCGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGG | CA2612675429 | USH1C | c.497-55_497-54insCCCCCGGGGGGGG (n.497-55_497-54insCCCCCGGGGGGGG) c.530-55_530-54insCCCCCGGGGGGGG (n.530-55_530-54insCCCCCGGGGGGGG) c.404-55_404-54insCCCCCGGGGGGGG (n.404-55_404-54insCCCCCGGGGGGGG) n.606-55_606-54insCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGG | CA935547117 | USH1C | c.497-55_497-54insCCCCAGGGGGGGG (n.497-55_497-54insCCCCAGGGGGGGG) c.530-55_530-54insCCCCAGGGGGGGG (n.530-55_530-54insCCCCAGGGGGGGG) c.404-55_404-54insCCCCAGGGGGGGG (n.404-55_404-54insCCCCAGGGGGGGG) n.606-55_606-54insCCCCAGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTTAGG | CA2612675448 | USH1C | c.497-55_497-54insCCTAAGGGGGGGG (n.497-55_497-54insCCTAAGGGGGGGG) c.530-55_530-54insCCTAAGGGGGGGG (n.530-55_530-54insCCTAAGGGGGGGG) c.404-55_404-54insCCTAAGGGGGGGG (n.404-55_404-54insCCTAAGGGGGGGG) n.606-55_606-54insCCTAAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGG | CA2612675454 | USH1C | c.497-55_497-54insCCCCAAGGGGGGG (n.497-55_497-54insCCCCAAGGGGGGG) c.530-55_530-54insCCCCAAGGGGGGG (n.530-55_530-54insCCCCAAGGGGGGG) c.404-55_404-54insCCCCAAGGGGGGG (n.404-55_404-54insCCCCAAGGGGGGG) n.606-55_606-54insCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGGG | CA2612675471 | USH1C | c.497-55_497-54insCCCCCCTGGGGGGG (n.497-55_497-54insCCCCCCTGGGGGGG) c.530-55_530-54insCCCCCCTGGGGGGG (n.530-55_530-54insCCCCCCTGGGGGGG) c.404-55_404-54insCCCCCCTGGGGGGG (n.404-55_404-54insCCCCCCTGGGGGGG) n.606-55_606-54insCCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGG | CA2612675493 | USH1C | c.497-55_497-54insCCCCCTGGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCATGGGG | CA2612675499 | USH1C | c.497-55_497-54insCCCCATGGGGGGGG (n.497-55_497-54insCCCCATGGGGGGGG) c.530-55_530-54insCCCCATGGGGGGGG (n.530-55_530-54insCCCCATGGGGGGGG) c.404-55_404-54insCCCCATGGGGGGGG (n.404-55_404-54insCCCCATGGGGGGGG) n.606-55_606-54insCCCCATGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCCCGGG | CA2612675515 | USH1C | c.497-55_497-54insCCCGGGGGGGGGGG (n.497-55_497-54insCCCGGGGGGGGGGG) c.530-55_530-54insCCCGGGGGGGGGGG (n.530-55_530-54insCCCGGGGGGGGGGG) c.404-55_404-54insCCCGGGGGGGGGGG (n.404-55_404-54insCCCGGGGGGGGGGG) n.606-55_606-54insCCCGGGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGGG | CA935547140 | USH1C | c.497-55_497-54insCCCCCGGGGGGGGG (n.497-55_497-54insCCCCCGGGGGGGGG) c.530-55_530-54insCCCCCGGGGGGGGG (n.530-55_530-54insCCCCCGGGGGGGGG) c.404-55_404-54insCCCCCGGGGGGGGG (n.404-55_404-54insCCCCCGGGGGGGGG) n.606-55_606-54insCCCCCGGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGG | CA2612675427 | USH1C | c.497-55_497-54insCCCCAGGGGGGGGG (n.497-55_497-54insCCCCAGGGGGGGGG) c.530-55_530-54insCCCCAGGGGGGGGG (n.530-55_530-54insCCCCAGGGGGGGGG) c.404-55_404-54insCCCCAGGGGGGGGG (n.404-55_404-54insCCCCAGGGGGGGGG) n.606-55_606-54insCCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGGG | CA2612675431 | USH1C | c.497-55_497-54insCCCCCCGGGGGGGG (n.497-55_497-54insCCCCCCGGGGGGGG) c.530-55_530-54insCCCCCCGGGGGGGG (n.530-55_530-54insCCCCCCGGGGGGGG) c.404-55_404-54insCCCCCCGGGGGGGG (n.404-55_404-54insCCCCCCGGGGGGGG) n.606-55_606-54insCCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGAGGA | CA2612675435 | USH1C | c.497-55_497-54insTCCTCAGGGGGGGG (n.497-55_497-54insTCCTCAGGGGGGGG) c.530-55_530-54insTCCTCAGGGGGGGG (n.530-55_530-54insTCCTCAGGGGGGGG) c.404-55_404-54insTCCTCAGGGGGGGG (n.404-55_404-54insTCCTCAGGGGGGGG) n.606-55_606-54insTCCTCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGA | CA2612675436 | USH1C | c.497-55_497-54insTCCCCAGGGGGGGG (n.497-55_497-54insTCCCCAGGGGGGGG) c.530-55_530-54insTCCCCAGGGGGGGG (n.530-55_530-54insTCCCCAGGGGGGGG) c.404-55_404-54insTCCCCAGGGGGGGG (n.404-55_404-54insTCCCCAGGGGGGGG) n.606-55_606-54insTCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGG | CA935547111 | USH1C | c.497-55_497-54insCCCCCAGGGGGGGG (n.497-55_497-54insCCCCCAGGGGGGGG) c.530-55_530-54insCCCCCAGGGGGGGG (n.530-55_530-54insCCCCCAGGGGGGGG) c.404-55_404-54insCCCCCAGGGGGGGG (n.404-55_404-54insCCCCCAGGGGGGGG) n.606-55_606-54insCCCCCAGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTTGGGG | CA2612675450 | USH1C | c.497-55_497-54insCCCCAAGGGGGGGG (n.497-55_497-54insCCCCAAGGGGGGGG) c.530-55_530-54insCCCCAAGGGGGGGG (n.530-55_530-54insCCCCAAGGGGGGGG) c.404-55_404-54insCCCCAAGGGGGGGG (n.404-55_404-54insCCCCAAGGGGGGGG) n.606-55_606-54insCCCCAAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTGGGGGA | CA2612675452 | USH1C | c.497-55_497-54insTCCCCCAGGGGGGG (n.497-55_497-54insTCCCCCAGGGGGGG) c.530-55_530-54insTCCCCCAGGGGGGG (n.530-55_530-54insTCCCCCAGGGGGGG) c.404-55_404-54insTCCCCCAGGGGGGG (n.404-55_404-54insTCCCCCAGGGGGGG) n.606-55_606-54insTCCCCCAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGGA | CA2612675458 | USH1C | c.497-55_497-54insTCCCCAAGGGGGGG (n.497-55_497-54insTCCCCAAGGGGGGG) c.530-55_530-54insTCCCCAAGGGGGGG (n.530-55_530-54insTCCCCAAGGGGGGG) c.404-55_404-54insTCCCCAAGGGGGGG (n.404-55_404-54insTCCCCAAGGGGGGG) n.606-55_606-54insTCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGGG | CA2612675459 | USH1C | c.497-55_497-54insCCCCCAAGGGGGGG (n.497-55_497-54insCCCCCAAGGGGGGG) c.530-55_530-54insCCCCCAAGGGGGGG (n.530-55_530-54insCCCCCAAGGGGGGG) c.404-55_404-54insCCCCCAAGGGGGGG (n.404-55_404-54insCCCCCAAGGGGGGG) n.606-55_606-54insCCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGGGA | CA2612675475 | USH1C | c.497-55_497-54insTCCCCCCTGGGGGGG (n.497-55_497-54insTCCCCCCTGGGGGGG) c.530-55_530-54insTCCCCCCTGGGGGGG (n.530-55_530-54insTCCCCCCTGGGGGGG) c.404-55_404-54insTCCCCCCTGGGGGGG (n.404-55_404-54insTCCCCCCTGGGGGGG) n.606-55_606-54insTCCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGA | CA2612675496 | USH1C | c.497-55_497-54insTCCCCCTGGGGGGGG (n.497-55_497-54insTCCCCCTGGGGGGGG) c.530-55_530-54insTCCCCCTGGGGGGGG (n.530-55_530-54insTCCCCCTGGGGGGGG) c.404-55_404-54insTCCCCCTGGGGGGGG (n.404-55_404-54insTCCCCCTGGGGGGGG) n.606-55_606-54insTCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGG | CA2612675497 | USH1C | c.497-55_497-54insCCCCCCTGGGGGGGG (n.497-55_497-54insCCCCCCTGGGGGGGG) c.530-55_530-54insCCCCCCTGGGGGGGG (n.530-55_530-54insCCCCCCTGGGGGGGG) c.404-55_404-54insCCCCCCTGGGGGGGG (n.404-55_404-54insCCCCCCTGGGGGGGG) n.606-55_606-54insCCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCAGGGGG | CA2612675511 | USH1C | c.497-55_497-54insCCCCCTGGGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGGGA | CA2790593532 | USH1C | c.497-55_497-54insTCCCCCGGGGGGGGG (n.497-55_497-54insTCCCCCGGGGGGGGG) c.530-55_530-54insTCCCCCGGGGGGGGG (n.530-55_530-54insTCCCCCGGGGGGGGG) c.404-55_404-54insTCCCCCGGGGGGGGG (n.404-55_404-54insTCCCCCGGGGGGGGG) n.606-55_606-54insTCCCCCGGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCCGGGGGG | CA2612675423 | USH1C | c.497-55_497-54insCCCCCCGGGGGGGGG (n.497-55_497-54insCCCCCCGGGGGGGGG) c.530-55_530-54insCCCCCCGGGGGGGGG (n.530-55_530-54insCCCCCCGGGGGGGGG) c.404-55_404-54insCCCCCCGGGGGGGGG (n.404-55_404-54insCCCCCCGGGGGGGGG) n.606-55_606-54insCCCCCCGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGAG | CA2612675426 | USH1C | c.497-55_497-54insCTCCCAGGGGGGGGG (n.497-55_497-54insCTCCCAGGGGGGGGG) c.530-55_530-54insCTCCCAGGGGGGGGG (n.530-55_530-54insCTCCCAGGGGGGGGG) c.404-55_404-54insCTCCCAGGGGGGGGG (n.404-55_404-54insCTCCCAGGGGGGGGG) n.606-55_606-54insCTCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGGG | CA2612675428 | USH1C | c.497-55_497-54insCCCCCAGGGGGGGGG (n.497-55_497-54insCCCCCAGGGGGGGGG) c.530-55_530-54insCCCCCAGGGGGGGGG (n.530-55_530-54insCCCCCAGGGGGGGGG) c.404-55_404-54insCCCCCAGGGGGGGGG (n.404-55_404-54insCCCCCAGGGGGGGGG) n.606-55_606-54insCCCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGGGG | CA2612675432 | USH1C | c.497-55_497-54insCCCCCCCGGGGGGGG (n.497-55_497-54insCCCCCCCGGGGGGGG) c.530-55_530-54insCCCCCCCGGGGGGGG (n.530-55_530-54insCCCCCCCGGGGGGGG) c.404-55_404-54insCCCCCCCGGGGGGGG (n.404-55_404-54insCCCCCCCGGGGGGGG) n.606-55_606-54insCCCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGAA | CA2612675437 | USH1C | c.497-55_497-54insTTCCCCAGGGGGGGG (n.497-55_497-54insTTCCCCAGGGGGGGG) c.530-55_530-54insTTCCCCAGGGGGGGG (n.530-55_530-54insTTCCCCAGGGGGGGG) c.404-55_404-54insTTCCCCAGGGGGGGG (n.404-55_404-54insTTCCCCAGGGGGGGG) n.606-55_606-54insTTCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGA | CA2612675438 | USH1C | c.497-55_497-54insTCCCCCAGGGGGGGG (n.497-55_497-54insTCCCCCAGGGGGGGG) c.530-55_530-54insTCCCCCAGGGGGGGG (n.530-55_530-54insTCCCCCAGGGGGGGG) c.404-55_404-54insTCCCCCAGGGGGGGG (n.404-55_404-54insTCCCCCAGGGGGGGG) n.606-55_606-54insTCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGG | CA2612675445 | USH1C | c.497-55_497-54insCCCCCCAGGGGGGGG (n.497-55_497-54insCCCCCCAGGGGGGGG) c.530-55_530-54insCCCCCCAGGGGGGGG (n.530-55_530-54insCCCCCCAGGGGGGGG) c.404-55_404-54insCCCCCCAGGGGGGGG (n.404-55_404-54insCCCCCCAGGGGGGGG) n.606-55_606-54insCCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGAA | CA2790593523 | USH1C | c.497-55_497-54insTTCCCCCTGGGGGGGG (n.497-55_497-54insTTCCCCCTGGGGGGGG) c.530-55_530-54insTTCCCCCTGGGGGGGG (n.530-55_530-54insTTCCCCCTGGGGGGGG) c.404-55_404-54insTTCCCCCTGGGGGGGG (n.404-55_404-54insTTCCCCCTGGGGGGGG) n.606-55_606-54insTTCCCCCTGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCCAGGGGGA | CA2612675513 | USH1C | c.497-55_497-54insTCCCCCTGGGGGGGGG (n.497-55_497-54insTCCCCCTGGGGGGGGG) c.530-55_530-54insTCCCCCTGGGGGGGGG (n.530-55_530-54insTCCCCCTGGGGGGGGG) c.404-55_404-54insTCCCCCTGGGGGGGGG (n.404-55_404-54insTCCCCCTGGGGGGGGG) n.606-55_606-54insTCCCCCTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGAG | CA2612675440 | USH1C | c.497-55_497-54insCTCCCCCAGGGGGGGG (n.497-55_497-54insCTCCCCCAGGGGGGGG) c.530-55_530-54insCTCCCCCAGGGGGGGG (n.530-55_530-54insCTCCCCCAGGGGGGGG) c.404-55_404-54insCTCCCCCAGGGGGGGG (n.404-55_404-54insCTCCCCCAGGGGGGGG) n.606-55_606-54insCTCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAAGGGGAAAAA | CA2612675461 | USH1C | c.497-55_497-54insTTTTTCCCCTTGGGGGGGG (n.497-55_497-54insTTTTTCCCCTTGGGGGGGG) c.530-55_530-54insTTTTTCCCCTTGGGGGGGG (n.530-55_530-54insTTTTTCCCCTTGGGGGGGG) c.404-55_404-54insTTTTTCCCCTTGGGGGGGG (n.404-55_404-54insTTTTTCCCCTTGGGGGGGG) n.606-55_606-54insTTTTTCCCCTTGGGGGGGG | gnomAD v4 |
11 | g.17527095A= | CA1955186930 | USH1C | c.497-55T= (n.497-55T=) c.530-55T= (n.530-55T=) c.404-55T= (n.404-55T=) n.606-55T= | |
11 | g.17527095A>C | CA597668819 | USH1C | c.497-55T>G (n.497-55T>G) c.530-55T>G (n.530-55T>G) c.404-55T>G (n.404-55T>G) n.606-55T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527095_17527118del | CA597668818 | USH1C | c.497-78_497-55del (n.497-78_497-55del) c.530-78_530-55del (n.530-78_530-55del) c.404-78_404-55del (n.404-78_404-55del) n.606-78_606-55del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527096C>A | CA2790593534 | USH1C | c.497-56G>T (n.497-56G>T) c.530-56G>T (n.530-56G>T) c.404-56G>T (n.404-56G>T) n.606-56G>T | |
11 | g.17527096C>G | CA2790593533 | USH1C | c.497-56G>C (n.497-56G>C) c.530-56G>C (n.530-56G>C) c.404-56G>C (n.404-56G>C) n.606-56G>C | |
11 | g.17527096_17527097del | CA2790593536 | USH1C | c.497-57_497-56del (n.497-57_497-56del) c.530-57_530-56del (n.530-57_530-56del) c.404-57_404-56del (n.404-57_404-56del) n.606-57_606-56del | |
11 | g.17527097_17527098insCCC | CA2612675527 | USH1C | c.497-56_497-55insGGG (n.497-56_497-55insGGG) c.530-56_530-55insGGG (n.530-56_530-55insGGG) c.404-56_404-55insGGG (n.404-56_404-55insGGG) n.606-56_606-55insGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCC | CA2612675531 | USH1C | c.497-56_497-55insGGGG (n.497-56_497-55insGGGG) c.530-56_530-55insGGGG (n.530-56_530-55insGGGG) c.404-56_404-55insGGGG (n.404-56_404-55insGGGG) n.606-56_606-55insGGGG | gnomAD v4 |
11 | g.17527096_17527097dup | CA2612675534 | USH1C | c.497-57_497-56dup (n.497-57_497-56dup) c.530-57_530-56dup (n.530-57_530-56dup) c.404-57_404-56dup (n.404-57_404-56dup) n.606-57_606-56dup | gnomAD v4 |
11 | g.17527097del | CA2790593538 | USH1C | c.497-56del (n.497-56del) c.530-56del (n.530-56del) c.404-56del (n.404-56del) n.606-56del | |
11 | g.17527097_17527100del | CA2790593535 | USH1C | c.497-59_497-56del (n.497-59_497-56del) c.530-59_530-56del (n.530-59_530-56del) c.404-59_404-56del (n.404-59_404-56del) n.606-59_606-56del | |
11 | g.17527096_17527104del | CA2790593537 | USH1C | c.497-64_497-56del (n.497-64_497-56del) c.530-64_530-56del (n.530-64_530-56del) c.404-64_404-56del (n.404-64_404-56del) n.606-64_606-56del | |
11 | g.17527097C>A | CA1955186933 | USH1C | c.497-57G>T (n.497-57G>T) c.530-57G>T (n.530-57G>T) c.404-57G>T (n.404-57G>T) n.606-57G>T | dbSNP gnomAD v4 |
11 | g.17527097C= | CA1955186931 | USH1C | c.497-57G= (n.497-57G=) c.530-57G= (n.530-57G=) c.404-57G= (n.404-57G=) n.606-57G= | |
11 | g.17527097C>G | CA674239460 | USH1C | c.497-57G>C (n.497-57G>C) c.530-57G>C (n.530-57G>C) c.404-57G>C (n.404-57G>C) n.606-57G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527097C>T | CA674239457 | USH1C | c.497-57G>A (n.497-57G>A) c.530-57G>A (n.530-57G>A) c.404-57G>A (n.404-57G>A) n.606-57G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCAC | CA2612675544 | USH1C | c.497-57_497-56insTGGGGG (n.497-57_497-56insTGGGGG) c.530-57_530-56insTGGGGG (n.530-57_530-56insTGGGGG) c.404-57_404-56insTGGGGG (n.404-57_404-56insTGGGGG) n.606-57_606-56insTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTC | CA935547151 | USH1C | c.497-57_497-56insAGGGGG (n.497-57_497-56insAGGGGG) c.530-57_530-56insAGGGGG (n.530-57_530-56insAGGGGG) c.404-57_404-56insAGGGGG (n.404-57_404-56insAGGGGG) n.606-57_606-56insAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGC | CA2790593543 | USH1C | c.497-57_497-56insCGGGGGGG (n.497-57_497-56insCGGGGGGG) c.530-57_530-56insCGGGGGGG (n.530-57_530-56insCGGGGGGG) c.404-57_404-56insCGGGGGGG (n.404-57_404-56insCGGGGGGG) n.606-57_606-56insCGGGGGGG | |
11 | g.17527097_17527098del | CA2790593544 | USH1C | c.497-58_497-57del (n.497-58_497-57del) c.530-58_530-57del (n.530-58_530-57del) c.404-58_404-57del (n.404-58_404-57del) n.606-58_606-57del | |
11 | g.17527098_17527100del | CA2612675548 | USH1C | c.497-59_497-57del (n.497-59_497-57del) c.530-59_530-57del (n.530-59_530-57del) c.404-59_404-57del (n.404-59_404-57del) n.606-59_606-57del | dbSNP gnomAD v4 |
11 | g.17527097_17527118delinsCGTCATGGAGTACTGACCTGCT | CA1955186932 | USH1C | c.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG (n.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG) c.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG (n.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG) c.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG (n.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG) n.606-78_606-57delinsAGCAGGTCAGTACTCCATGACG | |
11 | g.17527097_17527098insA | CA2790593779 | USH1C | c.497-58_497-57insT (n.497-58_497-57insT) c.530-58_530-57insT (n.530-58_530-57insT) c.404-58_404-57insT (n.404-58_404-57insT) n.606-58_606-57insT | |
11 | g.17527097_17527098insAGA | CA2790593777 | USH1C | c.497-58_497-57insTCT (n.497-58_497-57insTCT) c.530-58_530-57insTCT (n.530-58_530-57insTCT) c.404-58_404-57insTCT (n.404-58_404-57insTCT) n.606-58_606-57insTCT | |
11 | g.17527097_17527098insCCCCA | CA935547212 | USH1C | c.497-58_497-57insTGGGG (n.497-58_497-57insTGGGG) c.530-58_530-57insTGGGG (n.530-58_530-57insTGGGG) c.404-58_404-57insTGGGG (n.404-58_404-57insTGGGG) n.606-58_606-57insTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCG | CA2612676114 | USH1C | c.497-58_497-57insCGGGG (n.497-58_497-57insCGGGG) c.530-58_530-57insCGGGG (n.530-58_530-57insCGGGG) c.404-58_404-57insCGGGG (n.404-58_404-57insCGGGG) n.606-58_606-57insCGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAA | CA2612676202 | USH1C | c.497-58_497-57insTTTGGG (n.497-58_497-57insTTTGGG) c.530-58_530-57insTTTGGG (n.530-58_530-57insTTTGGG) c.404-58_404-57insTTTGGG (n.404-58_404-57insTTTGGG) n.606-58_606-57insTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAA | CA2612676223 | USH1C | c.497-58_497-57insTTGGGG (n.497-58_497-57insTTGGGG) c.530-58_530-57insTTGGGG (n.530-58_530-57insTTGGGG) c.404-58_404-57insTTGGGG (n.404-58_404-57insTTGGGG) n.606-58_606-57insTTGGGG | dbSNP gnomAD v4 |
11 | g.17527097_17527098insCCCCAG | CA935547216 | USH1C | c.497-58_497-57insCTGGGG (n.497-58_497-57insCTGGGG) c.530-58_530-57insCTGGGG (n.530-58_530-57insCTGGGG) c.404-58_404-57insCTGGGG (n.404-58_404-57insCTGGGG) n.606-58_606-57insCTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCA | CA935547241 | USH1C | c.497-58_497-57insTGGGGG (n.497-58_497-57insTGGGGG) c.530-58_530-57insTGGGGG (n.530-58_530-57insTGGGGG) c.404-58_404-57insTGGGGG (n.404-58_404-57insTGGGGG) n.606-58_606-57insTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCG | CA935547179 | USH1C | c.497-58_497-57insCGGGGG (n.497-58_497-57insCGGGGG) c.530-58_530-57insCGGGGG (n.530-58_530-57insCGGGGG) c.404-58_404-57insCGGGGG (n.404-58_404-57insCGGGGG) n.606-58_606-57insCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCT | CA597668826 | USH1C | c.497-58_497-57insAGGGGG (n.497-58_497-57insAGGGGG) c.530-58_530-57insAGGGGG (n.530-58_530-57insAGGGGG) c.404-58_404-57insAGGGGG (n.404-58_404-57insAGGGGG) n.606-58_606-57insAGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCTT | CA2612676071 | USH1C | c.497-58_497-57insAAGGGG (n.497-58_497-57insAAGGGG) c.530-58_530-57insAAGGGG (n.530-58_530-57insAAGGGG) c.404-58_404-57insAAGGGG (n.404-58_404-57insAAGGGG) n.606-58_606-57insAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAAG | CA2612676209 | USH1C | c.497-58_497-57insCTTTGGG (n.497-58_497-57insCTTTGGG) c.530-58_530-57insCTTTGGG (n.530-58_530-57insCTTTGGG) c.404-58_404-57insCTTTGGG (n.404-58_404-57insCTTTGGG) n.606-58_606-57insCTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCACAG | CA2612676216 | USH1C | c.497-58_497-57insCTGTGGG (n.497-58_497-57insCTGTGGG) c.530-58_530-57insCTGTGGG (n.530-58_530-57insCTGTGGG) c.404-58_404-57insCTGTGGG (n.404-58_404-57insCTGTGGG) n.606-58_606-57insCTGTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAA | CA2612676227 | USH1C | c.497-58_497-57insTTTGGGG (n.497-58_497-57insTTTGGGG) c.530-58_530-57insTTTGGGG (n.530-58_530-57insTTTGGGG) c.404-58_404-57insTTTGGGG (n.404-58_404-57insTTTGGGG) n.606-58_606-57insTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAG | CA2612676242 | USH1C | c.497-58_497-57insCTTGGGG (n.497-58_497-57insCTTGGGG) c.530-58_530-57insCTTGGGG (n.530-58_530-57insCTTGGGG) c.404-58_404-57insCTTGGGG (n.404-58_404-57insCTTGGGG) n.606-58_606-57insCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGG | CA2612676151 | USH1C | c.497-58_497-57insCCTGGGG (n.497-58_497-57insCCTGGGG) c.530-58_530-57insCCTGGGG (n.530-58_530-57insCCTGGGG) c.404-58_404-57insCCTGGGG (n.404-58_404-57insCCTGGGG) n.606-58_606-57insCCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAA | CA2612676320 | USH1C | c.497-58_497-57insTTGGGGG (n.497-58_497-57insTTGGGGG) c.530-58_530-57insTTGGGGG (n.530-58_530-57insTTGGGGG) c.404-58_404-57insTTGGGGG (n.404-58_404-57insTTGGGGG) n.606-58_606-57insTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAG | CA935547242 | USH1C | c.497-58_497-57insCTGGGGG (n.497-58_497-57insCTGGGGG) c.530-58_530-57insCTGGGGG (n.530-58_530-57insCTGGGGG) c.404-58_404-57insCTGGGGG (n.404-58_404-57insCTGGGGG) n.606-58_606-57insCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCA | CA2612676327 | USH1C | c.497-58_497-57insTGGGGGG (n.497-58_497-57insTGGGGGG) c.530-58_530-57insTGGGGGG (n.530-58_530-57insTGGGGGG) c.404-58_404-57insTGGGGGG (n.404-58_404-57insTGGGGGG) n.606-58_606-57insTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCG | CA935547192 | USH1C | c.497-58_497-57insCGGGGGG (n.497-58_497-57insCGGGGGG) c.530-58_530-57insCGGGGGG (n.530-58_530-57insCGGGGGG) c.404-58_404-57insCGGGGGG (n.404-58_404-57insCGGGGGG) n.606-58_606-57insCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCT | CA935547267 | USH1C | c.497-58_497-57insAGGGGGG (n.497-58_497-57insAGGGGGG) c.530-58_530-57insAGGGGGG (n.530-58_530-57insAGGGGGG) c.404-58_404-57insAGGGGGG (n.404-58_404-57insAGGGGGG) n.606-58_606-57insAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGG | CA2612676058 | USH1C | c.497-58_497-57insCCGGGGG (n.497-58_497-57insCCGGGGG) c.530-58_530-57insCCGGGGG (n.530-58_530-57insCCGGGGG) c.404-58_404-57insCCGGGGG (n.404-58_404-57insCCGGGGG) n.606-58_606-57insCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGT | CA2612676005 | USH1C | c.497-58_497-57insACGGGGG (n.497-58_497-57insACGGGGG) c.530-58_530-57insACGGGGG (n.530-58_530-57insACGGGGG) c.404-58_404-57insACGGGGG (n.404-58_404-57insACGGGGG) n.606-58_606-57insACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTG | CA597668825 | USH1C | c.497-58_497-57insCAGGGGG (n.497-58_497-57insCAGGGGG) c.530-58_530-57insCAGGGGG (n.530-58_530-57insCAGGGGG) c.404-58_404-57insCAGGGGG (n.404-58_404-57insCAGGGGG) n.606-58_606-57insCAGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTT | CA2612676125 | USH1C | c.497-58_497-57insAAGGGGG (n.497-58_497-57insAAGGGGG) c.530-58_530-57insAAGGGGG (n.530-58_530-57insAAGGGGG) c.404-58_404-57insAAGGGGG (n.404-58_404-57insAAGGGGG) n.606-58_606-57insAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCGCG | CA2612676112 | USH1C | c.497-58_497-57insCGCGGGG (n.497-58_497-57insCGCGGGG) c.530-58_530-57insCGCGGGG (n.530-58_530-57insCGCGGGG) c.404-58_404-57insCGCGGGG (n.404-58_404-57insCGCGGGG) n.606-58_606-57insCGCGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTAG | CA2612676108 | USH1C | c.497-58_497-57insCTAGGGG (n.497-58_497-57insCTAGGGG) c.530-58_530-57insCTAGGGG (n.530-58_530-57insCTAGGGG) c.404-58_404-57insCTAGGGG (n.404-58_404-57insCTAGGGG) n.606-58_606-57insCTAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCG | CA2790593706 | USH1C | c.497-58_497-57insCGAGGGG (n.497-58_497-57insCGAGGGG) c.530-58_530-57insCGAGGGG (n.530-58_530-57insCGAGGGG) c.404-58_404-57insCGAGGGG (n.404-58_404-57insCGAGGGG) n.606-58_606-57insCGAGGGG | |
11 | g.17527097_17527098insCCCCTTG | CA2612676074 | USH1C | c.497-58_497-57insCAAGGGG (n.497-58_497-57insCAAGGGG) c.530-58_530-57insCAAGGGG (n.530-58_530-57insCAAGGGG) c.404-58_404-57insCAAGGGG (n.404-58_404-57insCAAGGGG) n.606-58_606-57insCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAAGG | CA2612676214 | USH1C | c.497-58_497-57insCCTTTGGG (n.497-58_497-57insCCTTTGGG) c.530-58_530-57insCCTTTGGG (n.530-58_530-57insCCTTTGGG) c.404-58_404-57insCCTTTGGG (n.404-58_404-57insCCTTTGGG) n.606-58_606-57insCCTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCACTGG | CA2612676219 | USH1C | c.497-58_497-57insCCAGTGGG (n.497-58_497-57insCCAGTGGG) c.530-58_530-57insCCAGTGGG (n.530-58_530-57insCCAGTGGG) c.404-58_404-57insCCAGTGGG (n.404-58_404-57insCCAGTGGG) n.606-58_606-57insCCAGTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAG | CA2612676230 | USH1C | c.497-58_497-57insCTTTGGGG (n.497-58_497-57insCTTTGGGG) c.530-58_530-57insCTTTGGGG (n.530-58_530-57insCTTTGGGG) c.404-58_404-57insCTTTGGGG (n.404-58_404-57insCTTTGGGG) n.606-58_606-57insCTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGG | CA2612676246 | USH1C | c.497-58_497-57insCCTTGGGG (n.497-58_497-57insCCTTGGGG) c.530-58_530-57insCCTTGGGG (n.530-58_530-57insCCTTGGGG) c.404-58_404-57insCCTTGGGG (n.404-58_404-57insCCTTGGGG) n.606-58_606-57insCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGT | CA2612676155 | USH1C | c.497-58_497-57insACTTGGGG (n.497-58_497-57insACTTGGGG) c.530-58_530-57insACTTGGGG (n.530-58_530-57insACTTGGGG) c.404-58_404-57insACTTGGGG (n.404-58_404-57insACTTGGGG) n.606-58_606-57insACTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACAG | CA2790593755 | USH1C | c.497-58_497-57insCTGTGGGG (n.497-58_497-57insCTGTGGGG) c.530-58_530-57insCTGTGGGG (n.530-58_530-57insCTGTGGGG) c.404-58_404-57insCTGTGGGG (n.404-58_404-57insCTGTGGGG) n.606-58_606-57insCTGTGGGG | |
11 | g.17527097_17527098insCCCCACGG | CA2612676160 | USH1C | c.497-58_497-57insCCGTGGGG (n.497-58_497-57insCCGTGGGG) c.530-58_530-57insCCGTGGGG (n.530-58_530-57insCCGTGGGG) c.404-58_404-57insCCGTGGGG (n.404-58_404-57insCCGTGGGG) n.606-58_606-57insCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGG | CA935547238 | USH1C | c.497-58_497-57insCCCTGGGG (n.497-58_497-57insCCCTGGGG) c.530-58_530-57insCCCTGGGG (n.530-58_530-57insCCCTGGGG) c.404-58_404-57insCCCTGGGG (n.404-58_404-57insCCCTGGGG) n.606-58_606-57insCCCTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCATGG | CA2612676187 | USH1C | c.497-58_497-57insCCATGGGG (n.497-58_497-57insCCATGGGG) c.530-58_530-57insCCATGGGG (n.530-58_530-57insCCATGGGG) c.404-58_404-57insCCATGGGG (n.404-58_404-57insCCATGGGG) n.606-58_606-57insCCATGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAG | CA2612676287 | USH1C | c.497-58_497-57insCTTGGGGG (n.497-58_497-57insCTTGGGGG) c.530-58_530-57insCTTGGGGG (n.530-58_530-57insCTTGGGGG) c.404-58_404-57insCTTGGGGG (n.404-58_404-57insCTTGGGGG) n.606-58_606-57insCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGA | CA2612676364 | USH1C | c.497-58_497-57insTCTGGGGG (n.497-58_497-57insTCTGGGGG) c.530-58_530-57insTCTGGGGG (n.530-58_530-57insTCTGGGGG) c.404-58_404-57insTCTGGGGG (n.404-58_404-57insTCTGGGGG) n.606-58_606-57insTCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGG | CA2612676382 | USH1C | c.497-58_497-57insCCTGGGGG (n.497-58_497-57insCCTGGGGG) c.530-58_530-57insCCTGGGGG (n.530-58_530-57insCCTGGGGG) c.404-58_404-57insCCTGGGGG (n.404-58_404-57insCCTGGGGG) n.606-58_606-57insCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAA | CA2612676336 | USH1C | c.497-58_497-57insTTGGGGGG (n.497-58_497-57insTTGGGGGG) c.530-58_530-57insTTGGGGGG (n.530-58_530-57insTTGGGGGG) c.404-58_404-57insTTGGGGGG (n.404-58_404-57insTTGGGGGG) n.606-58_606-57insTTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAG | CA935547265 | USH1C | c.497-58_497-57insCTGGGGGG (n.497-58_497-57insCTGGGGGG) c.530-58_530-57insCTGGGGGG (n.530-58_530-57insCTGGGGGG) c.404-58_404-57insCTGGGGGG (n.404-58_404-57insCTGGGGGG) n.606-58_606-57insCTGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCA | CA2612676267 | USH1C | c.497-58_497-57insTGGGGGGG (n.497-58_497-57insTGGGGGGG) c.530-58_530-57insTGGGGGGG (n.530-58_530-57insTGGGGGGG) c.404-58_404-57insTGGGGGGG (n.404-58_404-57insTGGGGGGG) n.606-58_606-57insTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCG | CA935547249 | USH1C | c.497-58_497-57insCGGGGGGG (n.497-58_497-57insCGGGGGGG) c.530-58_530-57insCGGGGGGG (n.530-58_530-57insCGGGGGGG) c.404-58_404-57insCGGGGGGG (n.404-58_404-57insCGGGGGGG) n.606-58_606-57insCGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCT | CA2612676297 | USH1C | c.497-58_497-57insAGGGGGGG (n.497-58_497-57insAGGGGGGG) c.530-58_530-57insAGGGGGGG (n.530-58_530-57insAGGGGGGG) c.404-58_404-57insAGGGGGGG (n.404-58_404-57insAGGGGGGG) n.606-58_606-57insAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGG | CA935547277 | USH1C | c.497-58_497-57insCCGGGGGG (n.497-58_497-57insCCGGGGGG) c.530-58_530-57insCCGGGGGG (n.530-58_530-57insCCGGGGGG) c.404-58_404-57insCCGGGGGG (n.404-58_404-57insCCGGGGGG) n.606-58_606-57insCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGT | CA2612676029 | USH1C | c.497-58_497-57insACGGGGGG (n.497-58_497-57insACGGGGGG) c.530-58_530-57insACGGGGGG (n.530-58_530-57insACGGGGGG) c.404-58_404-57insACGGGGGG (n.404-58_404-57insACGGGGGG) n.606-58_606-57insACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTG | CA935547204 | USH1C | c.497-58_497-57insCAGGGGGG (n.497-58_497-57insCAGGGGGG) c.530-58_530-57insCAGGGGGG (n.530-58_530-57insCAGGGGGG) c.404-58_404-57insCAGGGGGG (n.404-58_404-57insCAGGGGGG) n.606-58_606-57insCAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGG | CA2612676059 | USH1C | c.497-58_497-57insCCCGGGGG (n.497-58_497-57insCCCGGGGG) c.530-58_530-57insCCCGGGGG (n.530-58_530-57insCCCGGGGG) c.404-58_404-57insCCCGGGGG (n.404-58_404-57insCCCGGGGG) n.606-58_606-57insCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGTG | CA2612676009 | USH1C | c.497-58_497-57insCACGGGGG (n.497-58_497-57insCACGGGGG) c.530-58_530-57insCACGGGGG (n.530-58_530-57insCACGGGGG) c.404-58_404-57insCACGGGGG (n.404-58_404-57insCACGGGGG) n.606-58_606-57insCACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGG | CA935547190 | USH1C | c.497-58_497-57insCCAGGGGG (n.497-58_497-57insCCAGGGGG) c.530-58_530-57insCCAGGGGG (n.530-58_530-57insCCAGGGGG) c.404-58_404-57insCCAGGGGG (n.404-58_404-57insCCAGGGGG) n.606-58_606-57insCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTG | CA2612676122 | USH1C | c.497-58_497-57insCAAGGGGG (n.497-58_497-57insCAAGGGGG) c.530-58_530-57insCAAGGGGG (n.530-58_530-57insCAAGGGGG) c.404-58_404-57insCAAGGGGG (n.404-58_404-57insCAAGGGGG) n.606-58_606-57insCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTAGG | CA2612676103 | USH1C | c.497-58_497-57insCCTAGGGG (n.497-58_497-57insCCTAGGGG) c.530-58_530-57insCCTAGGGG (n.530-58_530-57insCCTAGGGG) c.404-58_404-57insCCTAGGGG (n.404-58_404-57insCCTAGGGG) n.606-58_606-57insCCTAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGG | CA2612676099 | USH1C | c.497-58_497-57insCCGAGGGG (n.497-58_497-57insCCGAGGGG) c.530-58_530-57insCCGAGGGG (n.530-58_530-57insCCGAGGGG) c.404-58_404-57insCCGAGGGG (n.404-58_404-57insCCGAGGGG) n.606-58_606-57insCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCTG | CA2612676068 | USH1C | c.497-58_497-57insCAGAGGGG (n.497-58_497-57insCAGAGGGG) c.530-58_530-57insCAGAGGGG (n.530-58_530-57insCAGAGGGG) c.404-58_404-57insCAGAGGGG (n.404-58_404-57insCAGAGGGG) n.606-58_606-57insCAGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGG | CA2612676076 | USH1C | c.497-58_497-57insCCAAGGGG (n.497-58_497-57insCCAAGGGG) c.530-58_530-57insCCAAGGGG (n.530-58_530-57insCCAAGGGG) c.404-58_404-57insCCAAGGGG (n.404-58_404-57insCCAAGGGG) n.606-58_606-57insCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAAG | CA2612676198 | USH1C | c.497-58_497-57insCTTTTGGGG (n.497-58_497-57insCTTTTGGGG) c.530-58_530-57insCTTTTGGGG (n.530-58_530-57insCTTTTGGGG) c.404-58_404-57insCTTTTGGGG (n.404-58_404-57insCTTTTGGGG) n.606-58_606-57insCTTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAGG | CA2612676237 | USH1C | c.497-58_497-57insCCTTTGGGG (n.497-58_497-57insCCTTTGGGG) c.530-58_530-57insCCTTTGGGG (n.530-58_530-57insCCTTTGGGG) c.404-58_404-57insCCTTTGGGG (n.404-58_404-57insCCTTTGGGG) n.606-58_606-57insCCTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAACAG | CA2612676240 | USH1C | c.497-58_497-57insCTGTTGGGG (n.497-58_497-57insCTGTTGGGG) c.530-58_530-57insCTGTTGGGG (n.530-58_530-57insCTGTTGGGG) c.404-58_404-57insCTGTTGGGG (n.404-58_404-57insCTGTTGGGG) n.606-58_606-57insCTGTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGG | CA2612676176 | USH1C | c.497-58_497-57insCCCTTGGGG (n.497-58_497-57insCCCTTGGGG) c.530-58_530-57insCCCTTGGGG (n.530-58_530-57insCCCTTGGGG) c.404-58_404-57insCCCTTGGGG (n.404-58_404-57insCCCTTGGGG) n.606-58_606-57insCCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACAGG | CA2612676157 | USH1C | c.497-58_497-57insCCTGTGGGG (n.497-58_497-57insCCTGTGGGG) c.530-58_530-57insCCTGTGGGG (n.530-58_530-57insCCTGTGGGG) c.404-58_404-57insCCTGTGGGG (n.404-58_404-57insCCTGTGGGG) n.606-58_606-57insCCTGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACGGG | CA2612676164 | USH1C | c.497-58_497-57insCCCGTGGGG (n.497-58_497-57insCCCGTGGGG) c.530-58_530-57insCCCGTGGGG (n.530-58_530-57insCCCGTGGGG) c.404-58_404-57insCCCGTGGGG (n.404-58_404-57insCCCGTGGGG) n.606-58_606-57insCCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGCGG | CA2790593749 | USH1C | c.497-58_497-57insCCGCTGGGG (n.497-58_497-57insCCGCTGGGG) c.530-58_530-57insCCGCTGGGG (n.530-58_530-57insCCGCTGGGG) c.404-58_404-57insCCGCTGGGG (n.404-58_404-57insCCGCTGGGG) n.606-58_606-57insCCGCTGGGG | |
11 | g.17527097_17527098insCCCCAGGGG | CA913562527 | USH1C | c.497-58_497-57insCCCCTGGGG (n.497-58_497-57insCCCCTGGGG) c.530-58_530-57insCCCCTGGGG (n.530-58_530-57insCCCCTGGGG) c.404-58_404-57insCCCCTGGGG (n.404-58_404-57insCCCCTGGGG) n.606-58_606-57insCCCCTGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAGG | CA2612676331 | USH1C | c.497-58_497-57insCCTTGGGGG (n.497-58_497-57insCCTTGGGGG) c.530-58_530-57insCCTTGGGGG (n.530-58_530-57insCCTTGGGGG) c.404-58_404-57insCCTTGGGGG (n.404-58_404-57insCCTTGGGGG) n.606-58_606-57insCCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCACAG | CA2612676344 | USH1C | c.497-58_497-57insCTGTGGGGG (n.497-58_497-57insCTGTGGGGG) c.530-58_530-57insCTGTGGGGG (n.530-58_530-57insCTGTGGGGG) c.404-58_404-57insCTGTGGGGG (n.404-58_404-57insCTGTGGGGG) n.606-58_606-57insCTGTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGAG | CA2612676375 | USH1C | c.497-58_497-57insCTCTGGGGG (n.497-58_497-57insCTCTGGGGG) c.530-58_530-57insCTCTGGGGG (n.530-58_530-57insCTCTGGGGG) c.404-58_404-57insCTCTGGGGG (n.404-58_404-57insCTCTGGGGG) n.606-58_606-57insCTCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGA | CA2790593838 | USH1C | c.497-58_497-57insTCCTGGGGG (n.497-58_497-57insTCCTGGGGG) c.530-58_530-57insTCCTGGGGG (n.530-58_530-57insTCCTGGGGG) c.404-58_404-57insTCCTGGGGG (n.404-58_404-57insTCCTGGGGG) n.606-58_606-57insTCCTGGGGG | |
11 | g.17527097_17527098insCCCCCAGGG | CA2592429712 | USH1C | c.497-58_497-57insCCCTGGGGG (n.497-58_497-57insCCCTGGGGG) c.530-58_530-57insCCCTGGGGG (n.530-58_530-57insCCCTGGGGG) c.404-58_404-57insCCCTGGGGG (n.404-58_404-57insCCCTGGGGG) n.606-58_606-57insCCCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGT | CA2612676413 | USH1C | c.497-58_497-57insACCTGGGGG (n.497-58_497-57insACCTGGGGG) c.530-58_530-57insACCTGGGGG (n.530-58_530-57insACCTGGGGG) c.404-58_404-57insACCTGGGGG (n.404-58_404-57insACCTGGGGG) n.606-58_606-57insACCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCATGG | CA2790593853 | USH1C | c.497-58_497-57insCCATGGGGG (n.497-58_497-57insCCATGGGGG) c.530-58_530-57insCCATGGGGG (n.530-58_530-57insCCATGGGGG) c.404-58_404-57insCCATGGGGG (n.404-58_404-57insCCATGGGGG) n.606-58_606-57insCCATGGGGG | |
11 | g.17527097_17527098insCCCCCCAGG | CA2612676257 | USH1C | c.497-58_497-57insCCTGGGGGG (n.497-58_497-57insCCTGGGGGG) c.530-58_530-57insCCTGGGGGG (n.530-58_530-57insCCTGGGGGG) c.404-58_404-57insCCTGGGGGG (n.404-58_404-57insCCTGGGGGG) n.606-58_606-57insCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAG | CA2612676273 | USH1C | c.497-58_497-57insCTGGGGGGG (n.497-58_497-57insCTGGGGGGG) c.530-58_530-57insCTGGGGGGG (n.530-58_530-57insCTGGGGGGG) c.404-58_404-57insCTGGGGGGG (n.404-58_404-57insCTGGGGGGG) n.606-58_606-57insCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGG | CA935547284 | USH1C | c.497-58_497-57insCCGGGGGGG (n.497-58_497-57insCCGGGGGGG) c.530-58_530-57insCCGGGGGGG (n.530-58_530-57insCCGGGGGGG) c.404-58_404-57insCCGGGGGGG (n.404-58_404-57insCCGGGGGGG) n.606-58_606-57insCCGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCTG | CA2612676300 | USH1C | c.497-58_497-57insCAGGGGGGG (n.497-58_497-57insCAGGGGGGG) c.530-58_530-57insCAGGGGGGG (n.530-58_530-57insCAGGGGGGG) c.404-58_404-57insCAGGGGGGG (n.404-58_404-57insCAGGGGGGG) n.606-58_606-57insCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGG | CA935547283 | USH1C | c.497-58_497-57insCCCGGGGGG (n.497-58_497-57insCCCGGGGGG) c.530-58_530-57insCCCGGGGGG (n.530-58_530-57insCCCGGGGGG) c.404-58_404-57insCCCGGGGGG (n.404-58_404-57insCCCGGGGGG) n.606-58_606-57insCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGTG | CA2612676032 | USH1C | c.497-58_497-57insCACGGGGGG (n.497-58_497-57insCACGGGGGG) c.530-58_530-57insCACGGGGGG (n.530-58_530-57insCACGGGGGG) c.404-58_404-57insCACGGGGGG (n.404-58_404-57insCACGGGGGG) n.606-58_606-57insCACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTCG | CA2612676039 | USH1C | c.497-58_497-57insCGAGGGGGG (n.497-58_497-57insCGAGGGGGG) c.530-58_530-57insCGAGGGGGG (n.530-58_530-57insCGAGGGGGG) c.404-58_404-57insCGAGGGGGG (n.404-58_404-57insCGAGGGGGG) n.606-58_606-57insCGAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGG | CA935547206 | USH1C | c.497-58_497-57insCCAGGGGGG (n.497-58_497-57insCCAGGGGGG) c.530-58_530-57insCCAGGGGGG (n.530-58_530-57insCCAGGGGGG) c.404-58_404-57insCCAGGGGGG (n.404-58_404-57insCCAGGGGGG) n.606-58_606-57insCCAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGG | CA2612676042 | USH1C | c.497-58_497-57insCCCCGGGGG (n.497-58_497-57insCCCCGGGGG) c.530-58_530-57insCCCCGGGGG (n.530-58_530-57insCCCCGGGGG) c.404-58_404-57insCCCCGGGGG (n.404-58_404-57insCCCCGGGGG) n.606-58_606-57insCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGAG | CA2790593607 | USH1C | c.497-58_497-57insCTCAGGGGG (n.497-58_497-57insCTCAGGGGG) c.530-58_530-57insCTCAGGGGG (n.530-58_530-57insCTCAGGGGG) c.404-58_404-57insCTCAGGGGG (n.404-58_404-57insCTCAGGGGG) n.606-58_606-57insCTCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGG | CA935547191 | USH1C | c.497-58_497-57insCCCAGGGGG (n.497-58_497-57insCCCAGGGGG) c.530-58_530-57insCCCAGGGGG (n.530-58_530-57insCCCAGGGGG) c.404-58_404-57insCCCAGGGGG (n.404-58_404-57insCCCAGGGGG) n.606-58_606-57insCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTGG | CA2612676120 | USH1C | c.497-58_497-57insCCAAGGGGG (n.497-58_497-57insCCAAGGGGG) c.530-58_530-57insCCAAGGGGG (n.530-58_530-57insCCAAGGGGG) c.404-58_404-57insCCAAGGGGG (n.404-58_404-57insCCAAGGGGG) n.606-58_606-57insCCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGG | CA935547197 | USH1C | c.497-58_497-57insCCCGAGGGG (n.497-58_497-57insCCCGAGGGG) c.530-58_530-57insCCCGAGGGG (n.530-58_530-57insCCCGAGGGG) c.404-58_404-57insCCCGAGGGG (n.404-58_404-57insCCCGAGGGG) n.606-58_606-57insCCCGAGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCTGGGG | CA2790593688 | USH1C | c.497-58_497-57insCCCCAGGGG (n.497-58_497-57insCCCCAGGGG) c.530-58_530-57insCCCCAGGGG (n.530-58_530-57insCCCCAGGGG) c.404-58_404-57insCCCCAGGGG (n.404-58_404-57insCCCCAGGGG) n.606-58_606-57insCCCCAGGGG | |
11 | g.17527097_17527098insCCCCTTGGG | CA2612676078 | USH1C | c.497-58_497-57insCCCAAGGGG (n.497-58_497-57insCCCAAGGGG) c.530-58_530-57insCCCAAGGGG (n.530-58_530-57insCCCAAGGGG) c.404-58_404-57insCCCAAGGGG (n.404-58_404-57insCCCAAGGGG) n.606-58_606-57insCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGAGG | CA2612676244 | USH1C | c.497-58_497-57insCCTCTTGGGG (n.497-58_497-57insCCTCTTGGGG) c.530-58_530-57insCCTCTTGGGG (n.530-58_530-57insCCTCTTGGGG) c.404-58_404-57insCCTCTTGGGG (n.404-58_404-57insCCTCTTGGGG) n.606-58_606-57insCCTCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGAG | CA2612676252 | USH1C | c.497-58_497-57insCTCCTTGGGG (n.497-58_497-57insCTCCTTGGGG) c.530-58_530-57insCTCCTTGGGG (n.530-58_530-57insCTCCTTGGGG) c.404-58_404-57insCTCCTTGGGG (n.404-58_404-57insCTCCTTGGGG) n.606-58_606-57insCTCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGGG | CA2542219245 | USH1C | c.497-58_497-57insCCCCTTGGGG (n.497-58_497-57insCCCCTTGGGG) c.530-58_530-57insCCCCTTGGGG (n.530-58_530-57insCCCCTTGGGG) c.404-58_404-57insCCCCTTGGGG (n.404-58_404-57insCCCCTTGGGG) n.606-58_606-57insCCCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACGGGG | CA2612676168 | USH1C | c.497-58_497-57insCCCCGTGGGG (n.497-58_497-57insCCCCGTGGGG) c.530-58_530-57insCCCCGTGGGG (n.530-58_530-57insCCCCGTGGGG) c.404-58_404-57insCCCCGTGGGG (n.404-58_404-57insCCCCGTGGGG) n.606-58_606-57insCCCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGAGGG | CA2612676171 | USH1C | c.497-58_497-57insCCCTCTGGGG (n.497-58_497-57insCCCTCTGGGG) c.530-58_530-57insCCCTCTGGGG (n.530-58_530-57insCCCTCTGGGG) c.404-58_404-57insCCCTCTGGGG (n.404-58_404-57insCCCTCTGGGG) n.606-58_606-57insCCCTCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGGGG | CA2612676183 | USH1C | c.497-58_497-57insCCCCCTGGGG (n.497-58_497-57insCCCCCTGGGG) c.530-58_530-57insCCCCCTGGGG (n.530-58_530-57insCCCCCTGGGG) c.404-58_404-57insCCCCCTGGGG (n.404-58_404-57insCCCCCTGGGG) n.606-58_606-57insCCCCCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGGGT | CA2543151266 | USH1C | c.497-58_497-57insACCCCTGGGG (n.497-58_497-57insACCCCTGGGG) c.530-58_530-57insACCCCTGGGG (n.530-58_530-57insACCCCTGGGG) c.404-58_404-57insACCCCTGGGG (n.404-58_404-57insACCCCTGGGG) n.606-58_606-57insACCCCTGGGG | |
11 | g.17527097_17527098insCCCCAGTGGG | CA2612676185 | USH1C | c.497-58_497-57insCCCACTGGGG (n.497-58_497-57insCCCACTGGGG) c.530-58_530-57insCCCACTGGGG (n.530-58_530-57insCCCACTGGGG) c.404-58_404-57insCCCACTGGGG (n.404-58_404-57insCCCACTGGGG) n.606-58_606-57insCCCACTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCATGGGG | CA2612676191 | USH1C | c.497-58_497-57insCCCCATGGGG (n.497-58_497-57insCCCCATGGGG) c.530-58_530-57insCCCCATGGGG (n.530-58_530-57insCCCCATGGGG) c.404-58_404-57insCCCCATGGGG (n.404-58_404-57insCCCCATGGGG) n.606-58_606-57insCCCCATGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAGGG | CA2612676341 | USH1C | c.497-58_497-57insCCCTTGGGGG (n.497-58_497-57insCCCTTGGGGG) c.530-58_530-57insCCCTTGGGGG (n.530-58_530-57insCCCTTGGGGG) c.404-58_404-57insCCCTTGGGGG (n.404-58_404-57insCCCTTGGGGG) n.606-58_606-57insCCCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCACAGG | CA2612676351 | USH1C | c.497-58_497-57insCCTGTGGGGG (n.497-58_497-57insCCTGTGGGGG) c.530-58_530-57insCCTGTGGGGG (n.530-58_530-57insCCTGTGGGGG) c.404-58_404-57insCCTGTGGGGG (n.404-58_404-57insCCTGTGGGGG) n.606-58_606-57insCCTGTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGG | CA935547245 | USH1C | c.497-58_497-57insCCCCTGGGGG (n.497-58_497-57insCCCCTGGGGG) c.530-58_530-57insCCCCTGGGGG (n.530-58_530-57insCCCCTGGGGG) c.404-58_404-57insCCCCTGGGGG (n.404-58_404-57insCCCCTGGGGG) n.606-58_606-57insCCCCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGT | CA2612676406 | USH1C | c.497-58_497-57insACCCTGGGGG (n.497-58_497-57insACCCTGGGGG) c.530-58_530-57insACCCTGGGGG (n.530-58_530-57insACCCTGGGGG) c.404-58_404-57insACCCTGGGGG (n.404-58_404-57insACCCTGGGGG) n.606-58_606-57insACCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAGGG | CA2612676262 | USH1C | c.497-58_497-57insCCCTGGGGGG (n.497-58_497-57insCCCTGGGGGG) c.530-58_530-57insCCCTGGGGGG (n.530-58_530-57insCCCTGGGGGG) c.404-58_404-57insCCCTGGGGGG (n.404-58_404-57insCCCTGGGGGG) n.606-58_606-57insCCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAGG | CA2612676277 | USH1C | c.497-58_497-57insCCTGGGGGGG (n.497-58_497-57insCCTGGGGGGG) c.530-58_530-57insCCTGGGGGGG (n.530-58_530-57insCCTGGGGGGG) c.404-58_404-57insCCTGGGGGGG (n.404-58_404-57insCCTGGGGGGG) n.606-58_606-57insCCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGGG | CA2612676291 | USH1C | c.497-58_497-57insCCCGGGGGGG (n.497-58_497-57insCCCGGGGGGG) c.530-58_530-57insCCCGGGGGGG (n.530-58_530-57insCCCGGGGGGG) c.404-58_404-57insCCCGGGGGGG (n.404-58_404-57insCCCGGGGGGG) n.606-58_606-57insCCCGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCTGG | CA2612676308 | USH1C | c.497-58_497-57insCCAGGGGGGG (n.497-58_497-57insCCAGGGGGGG) c.530-58_530-57insCCAGGGGGGG (n.530-58_530-57insCCAGGGGGGG) c.404-58_404-57insCCAGGGGGGG (n.404-58_404-57insCCAGGGGGGG) n.606-58_606-57insCCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGGA | CA2790593791 | USH1C | c.497-58_497-57insTCCCGGGGGG (n.497-58_497-57insTCCCGGGGGG) c.530-58_530-57insTCCCGGGGGG (n.530-58_530-57insTCCCGGGGGG) c.404-58_404-57insTCCCGGGGGG (n.404-58_404-57insTCCCGGGGGG) n.606-58_606-57insTCCCGGGGGG | |
11 | g.17527097_17527098insCCCCCCGGGG | CA935547271 | USH1C | c.497-58_497-57insCCCCGGGGGG (n.497-58_497-57insCCCCGGGGGG) c.530-58_530-57insCCCCGGGGGG (n.530-58_530-57insCCCCGGGGGG) c.404-58_404-57insCCCCGGGGGG (n.404-58_404-57insCCCCGGGGGG) n.606-58_606-57insCCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGTGG | CA2612676035 | USH1C | c.497-58_497-57insCCACGGGGGG (n.497-58_497-57insCCACGGGGGG) c.530-58_530-57insCCACGGGGGG (n.530-58_530-57insCCACGGGGGG) c.404-58_404-57insCCACGGGGGG (n.404-58_404-57insCCACGGGGGG) n.606-58_606-57insCCACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGGG | CA2535750592 | USH1C | c.497-58_497-57insCCCAGGGGGG (n.497-58_497-57insCCCAGGGGGG) c.530-58_530-57insCCCAGGGGGG (n.530-58_530-57insCCCAGGGGGG) c.404-58_404-57insCCCAGGGGGG (n.404-58_404-57insCCCAGGGGGG) n.606-58_606-57insCCCAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGG | CA935547182 | USH1C | c.497-58_497-57insCCCCCGGGGG (n.497-58_497-57insCCCCCGGGGG) c.530-58_530-57insCCCCCGGGGG (n.530-58_530-57insCCCCCGGGGG) c.404-58_404-57insCCCCCGGGGG (n.404-58_404-57insCCCCCGGGGG) n.606-58_606-57insCCCCCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGTGGG | CA2612676011 | USH1C | c.497-58_497-57insCCCACGGGGG (n.497-58_497-57insCCCACGGGGG) c.530-58_530-57insCCCACGGGGG (n.530-58_530-57insCCCACGGGGG) c.404-58_404-57insCCCACGGGGG (n.404-58_404-57insCCCACGGGGG) n.606-58_606-57insCCCACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTCGGG | CA2612676012 | USH1C | c.497-58_497-57insCCCGAGGGGG (n.497-58_497-57insCCCGAGGGGG) c.530-58_530-57insCCCGAGGGGG (n.530-58_530-57insCCCGAGGGGG) c.404-58_404-57insCCCGAGGGGG (n.404-58_404-57insCCCGAGGGGG) n.606-58_606-57insCCCGAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGAGG | CA2790593611 | USH1C | c.497-58_497-57insCCTCAGGGGG (n.497-58_497-57insCCTCAGGGGG) c.530-58_530-57insCCTCAGGGGG (n.530-58_530-57insCCTCAGGGGG) c.404-58_404-57insCCTCAGGGGG (n.404-58_404-57insCCTCAGGGGG) n.606-58_606-57insCCTCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGAG | CA2612676021 | USH1C | c.497-58_497-57insCTCCAGGGGG (n.497-58_497-57insCTCCAGGGGG) c.530-58_530-57insCTCCAGGGGG (n.530-58_530-57insCTCCAGGGGG) c.404-58_404-57insCTCCAGGGGG (n.404-58_404-57insCTCCAGGGGG) n.606-58_606-57insCTCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGG | CA935547193 | USH1C | c.497-58_497-57insCCCCAGGGGG (n.497-58_497-57insCCCCAGGGGG) c.530-58_530-57insCCCCAGGGGG (n.530-58_530-57insCCCCAGGGGG) c.404-58_404-57insCCCCAGGGGG (n.404-58_404-57insCCCCAGGGGG) n.606-58_606-57insCCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGTGG | CA2612676133 | USH1C | c.497-58_497-57insCCACAGGGGG (n.497-58_497-57insCCACAGGGGG) c.530-58_530-57insCCACAGGGGG (n.530-58_530-57insCCACAGGGGG) c.404-58_404-57insCCACAGGGGG (n.404-58_404-57insCCACAGGGGG) n.606-58_606-57insCCACAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTGGG | CA2612676118 | USH1C | c.497-58_497-57insCCCAAGGGGG (n.497-58_497-57insCCCAAGGGGG) c.530-58_530-57insCCCAAGGGGG (n.530-58_530-57insCCCAAGGGGG) c.404-58_404-57insCCCAAGGGGG (n.404-58_404-57insCCCAAGGGGG) n.606-58_606-57insCCCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGGG | CA2612676081 | USH1C | c.497-58_497-57insCCCCGAGGGG (n.497-58_497-57insCCCCGAGGGG) c.530-58_530-57insCCCCGAGGGG (n.530-58_530-57insCCCCGAGGGG) c.404-58_404-57insCCCCGAGGGG (n.404-58_404-57insCCCCGAGGGG) n.606-58_606-57insCCCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTGGGGG | CA2612676069 | USH1C | c.497-58_497-57insCCCCCAGGGG (n.497-58_497-57insCCCCCAGGGG) c.530-58_530-57insCCCCCAGGGG (n.530-58_530-57insCCCCCAGGGG) c.404-58_404-57insCCCCCAGGGG (n.404-58_404-57insCCCCCAGGGG) n.606-58_606-57insCCCCCAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGGGG | CA2566068157 | USH1C | c.497-58_497-57insCCCCAAGGGG (n.497-58_497-57insCCCCAAGGGG) c.530-58_530-57insCCCCAAGGGG (n.530-58_530-57insCCCCAAGGGG) c.404-58_404-57insCCCCAAGGGG (n.404-58_404-57insCCCCAAGGGG) n.606-58_606-57insCCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGG | CA2612676391 | USH1C | c.497-58_497-57insCCCCCTGGGGG (n.497-58_497-57insCCCCCTGGGGG) c.530-58_530-57insCCCCCTGGGGG (n.530-58_530-57insCCCCCTGGGGG) c.404-58_404-57insCCCCCTGGGGG (n.404-58_404-57insCCCCCTGGGGG) n.606-58_606-57insCCCCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGT | CA2612676398 | USH1C | c.497-58_497-57insACCCCTGGGGG (n.497-58_497-57insACCCCTGGGGG) c.530-58_530-57insACCCCTGGGGG (n.530-58_530-57insACCCCTGGGGG) c.404-58_404-57insACCCCTGGGGG (n.404-58_404-57insACCCCTGGGGG) n.606-58_606-57insACCCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCATGGGG | CA2790593829 | USH1C | c.497-58_497-57insCCCCATGGGGG (n.497-58_497-57insCCCCATGGGGG) c.530-58_530-57insCCCCATGGGGG (n.530-58_530-57insCCCCATGGGGG) c.404-58_404-57insCCCCATGGGGG (n.404-58_404-57insCCCCATGGGGG) n.606-58_606-57insCCCCATGGGGG | |
11 | g.17527097_17527098insCCCCCCAGGGG | CA2612676265 | USH1C | c.497-58_497-57insCCCCTGGGGGG (n.497-58_497-57insCCCCTGGGGGG) c.530-58_530-57insCCCCTGGGGGG (n.530-58_530-57insCCCCTGGGGGG) c.404-58_404-57insCCCCTGGGGGG (n.404-58_404-57insCCCCTGGGGGG) n.606-58_606-57insCCCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGGGG | CA2790593803 | USH1C | c.497-58_497-57insCCCCGGGGGGG (n.497-58_497-57insCCCCGGGGGGG) c.530-58_530-57insCCCCGGGGGGG (n.530-58_530-57insCCCCGGGGGGG) c.404-58_404-57insCCCCGGGGGGG (n.404-58_404-57insCCCCGGGGGGG) n.606-58_606-57insCCCCGGGGGGG | |
11 | g.17527097_17527098insCCCCCCCTGGG | CA2612676314 | USH1C | c.497-58_497-57insCCCAGGGGGGG (n.497-58_497-57insCCCAGGGGGGG) c.530-58_530-57insCCCAGGGGGGG (n.530-58_530-57insCCCAGGGGGGG) c.404-58_404-57insCCCAGGGGGGG (n.404-58_404-57insCCCAGGGGGGG) n.606-58_606-57insCCCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGGGG | CA935547270 | USH1C | c.497-58_497-57insCCCCCGGGGGG (n.497-58_497-57insCCCCCGGGGGG) c.530-58_530-57insCCCCCGGGGGG (n.530-58_530-57insCCCCCGGGGGG) c.404-58_404-57insCCCCCGGGGGG (n.404-58_404-57insCCCCCGGGGGG) n.606-58_606-57insCCCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGGGG | CA2612676046 | USH1C | c.497-58_497-57insCCCCAGGGGGG (n.497-58_497-57insCCCCAGGGGGG) c.530-58_530-57insCCCCAGGGGGG (n.530-58_530-57insCCCCAGGGGGG) c.404-58_404-57insCCCCAGGGGGG (n.404-58_404-57insCCCCAGGGGGG) n.606-58_606-57insCCCCAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGAGGGG | CA2612676053 | USH1C | c.497-58_497-57insCCCCTCGGGGG (n.497-58_497-57insCCCCTCGGGGG) c.530-58_530-57insCCCCTCGGGGG (n.530-58_530-57insCCCCTCGGGGG) c.404-58_404-57insCCCCTCGGGGG (n.404-58_404-57insCCCCTCGGGGG) n.606-58_606-57insCCCCTCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGGG | CA2612675999 | USH1C | c.497-58_497-57insCCCCCCGGGGG (n.497-58_497-57insCCCCCCGGGGG) c.530-58_530-57insCCCCCCGGGGG (n.530-58_530-57insCCCCCCGGGGG) c.404-58_404-57insCCCCCCGGGGG (n.404-58_404-57insCCCCCCGGGGG) n.606-58_606-57insCCCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGA | CA2612676024 | USH1C | c.497-58_497-57insTCCCCAGGGGG (n.497-58_497-57insTCCCCAGGGGG) c.530-58_530-57insTCCCCAGGGGG (n.530-58_530-57insTCCCCAGGGGG) c.404-58_404-57insTCCCCAGGGGG (n.404-58_404-57insTCCCCAGGGGG) n.606-58_606-57insTCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGG | CA935547194 | USH1C | c.497-58_497-57insCCCCCAGGGGG (n.497-58_497-57insCCCCCAGGGGG) c.530-58_530-57insCCCCCAGGGGG (n.530-58_530-57insCCCCCAGGGGG) c.404-58_404-57insCCCCCAGGGGG (n.404-58_404-57insCCCCCAGGGGG) n.606-58_606-57insCCCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGTGGG | CA2612676127 | USH1C | c.497-58_497-57insCCCACAGGGGG (n.497-58_497-57insCCCACAGGGGG) c.530-58_530-57insCCCACAGGGGG (n.530-58_530-57insCCCACAGGGGG) c.404-58_404-57insCCCACAGGGGG (n.404-58_404-57insCCCACAGGGGG) n.606-58_606-57insCCCACAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGGGG | CA2612676066 | USH1C | c.497-58_497-57insCCCCCGAGGGG (n.497-58_497-57insCCCCCGAGGGG) c.530-58_530-57insCCCCCGAGGGG (n.530-58_530-57insCCCCCGAGGGG) c.404-58_404-57insCCCCCGAGGGG (n.404-58_404-57insCCCCCGAGGGG) n.606-58_606-57insCCCCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGGGGG | CA2612676064 | USH1C | c.497-58_497-57insCCCCCAAGGGG (n.497-58_497-57insCCCCCAAGGGG) c.530-58_530-57insCCCCCAAGGGG (n.530-58_530-57insCCCCCAAGGGG) c.404-58_404-57insCCCCCAAGGGG (n.404-58_404-57insCCCCCAAGGGG) n.606-58_606-57insCCCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTTGGGG | CA2612676085 | USH1C | c.497-58_497-57insCCCCAAAGGGG (n.497-58_497-57insCCCCAAAGGGG) c.530-58_530-57insCCCCAAAGGGG (n.530-58_530-57insCCCCAAAGGGG) c.404-58_404-57insCCCCAAAGGGG (n.404-58_404-57insCCCCAAAGGGG) n.606-58_606-57insCCCCAAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGGG | CA2790593844 | USH1C | c.497-58_497-57insCCCCCCTGGGGG (n.497-58_497-57insCCCCCCTGGGGG) c.530-58_530-57insCCCCCCTGGGGG (n.530-58_530-57insCCCCCCTGGGGG) c.404-58_404-57insCCCCCCTGGGGG (n.404-58_404-57insCCCCCCTGGGGG) n.606-58_606-57insCCCCCCTGGGGG | |
11 | g.17527097_17527098insCCCCCTGAGGAA | CA2612676014 | USH1C | c.497-58_497-57insTTCCTCAGGGGG (n.497-58_497-57insTTCCTCAGGGGG) c.530-58_530-57insTTCCTCAGGGGG (n.530-58_530-57insTTCCTCAGGGGG) c.404-58_404-57insTTCCTCAGGGGG (n.404-58_404-57insTTCCTCAGGGGG) n.606-58_606-57insTTCCTCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGA | CA2612676095 | USH1C | c.497-58_497-57insTCCCCCAGGGGG (n.497-58_497-57insTCCCCCAGGGGG) c.530-58_530-57insTCCCCCAGGGGG (n.530-58_530-57insTCCCCCAGGGGG) c.404-58_404-57insTCCCCCAGGGGG (n.404-58_404-57insTCCCCCAGGGGG) n.606-58_606-57insTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGG | CA2612676137 | USH1C | c.497-58_497-57insCCCCCCAGGGGG (n.497-58_497-57insCCCCCCAGGGGG) c.530-58_530-57insCCCCCCAGGGGG (n.530-58_530-57insCCCCCCAGGGGG) c.404-58_404-57insCCCCCCAGGGGG (n.404-58_404-57insCCCCCCAGGGGG) n.606-58_606-57insCCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAGGGGG | CA2612676280 | USH1C | c.497-58_497-57insCCCCCTGGGGGGG (n.497-58_497-57insCCCCCTGGGGGGG) c.530-58_530-57insCCCCCTGGGGGGG (n.530-58_530-57insCCCCCTGGGGGGG) c.404-58_404-57insCCCCCTGGGGGGG (n.404-58_404-57insCCCCCTGGGGGGG) n.606-58_606-57insCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGGGGA | CA2612676002 | USH1C | c.497-58_497-57insTCCCCCCCGGGGG (n.497-58_497-57insTCCCCCCCGGGGG) c.530-58_530-57insTCCCCCCCGGGGG (n.530-58_530-57insTCCCCCCCGGGGG) c.404-58_404-57insTCCCCCCCGGGGG (n.404-58_404-57insTCCCCCCCGGGGG) n.606-58_606-57insTCCCCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGAA | CA2612676148 | USH1C | c.497-58_497-57insTTCCCCCAGGGGG (n.497-58_497-57insTTCCCCCAGGGGG) c.530-58_530-57insTTCCCCCAGGGGG (n.530-58_530-57insTTCCCCCAGGGGG) c.404-58_404-57insTTCCCCCAGGGGG (n.404-58_404-57insTTCCCCCAGGGGG) n.606-58_606-57insTTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGGA | CA2790593620 | USH1C | c.497-58_497-57insTCCCCCCAGGGGG (n.497-58_497-57insTCCCCCCAGGGGG) c.530-58_530-57insTCCCCCCAGGGGG (n.530-58_530-57insTCCCCCCAGGGGG) c.404-58_404-57insTCCCCCCAGGGGG (n.404-58_404-57insTCCCCCCAGGGGG) n.606-58_606-57insTCCCCCCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGGGGAGT | CA2612676144 | USH1C | c.497-58_497-57insACTCCCCCAGGGGG (n.497-58_497-57insACTCCCCCAGGGGG) c.530-58_530-57insACTCCCCCAGGGGG (n.530-58_530-57insACTCCCCCAGGGGG) c.404-58_404-57insACTCCCCCAGGGGG (n.404-58_404-57insACTCCCCCAGGGGG) n.606-58_606-57insACTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527098G>A | CA218461475 | USH1C | c.497-58C>T (n.497-58C>T) c.530-58C>T (n.530-58C>T) c.404-58C>T (n.404-58C>T) n.606-58C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098G>C | CA597668820 | USH1C | c.497-58C>G (n.497-58C>G) c.530-58C>G (n.530-58C>G) c.404-58C>G (n.404-58C>G) n.606-58C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098G= | CA1955186934 | USH1C | c.497-58C= (n.497-58C=) c.530-58C= (n.530-58C=) c.404-58C= (n.404-58C=) n.606-58C= | |
11 | g.17527098G>T | CA2612676091 | USH1C | c.497-58C>A (n.497-58C>A) c.530-58C>A (n.530-58C>A) c.404-58C>A (n.404-58C>A) n.606-58C>A | gnomAD v4 |
11 | g.17527098_17527099del | CA935547199 | USH1C | c.497-59_497-58del (n.497-59_497-58del) c.530-59_530-58del (n.530-59_530-58del) c.404-59_404-58del (n.404-59_404-58del) n.606-59_606-58del | gnomAD v3 gnomAD v4 |
11 | g.17527098_17527104del | CA2790593664 | USH1C | c.497-64_497-58del (n.497-64_497-58del) c.530-64_530-58del (n.530-64_530-58del) c.404-64_404-58del (n.404-64_404-58del) n.606-64_606-58del | |
11 | g.17527098_17527112del | CA597668823 | USH1C | c.497-72_497-58del (n.497-72_497-58del) c.530-72_530-58del (n.530-72_530-58del) c.404-72_404-58del (n.404-72_404-58del) n.606-72_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098_17527118del | CA597668827 | USH1C | c.497-78_497-58del (n.497-78_497-58del) c.530-78_530-58del (n.530-78_530-58del) c.404-78_404-58del (n.404-78_404-58del) n.606-78_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098_17527099insGGGAA | CA2612676456 | USH1C | c.497-59_497-58insTTCCC (n.497-59_497-58insTTCCC) c.530-59_530-58insTTCCC (n.530-59_530-58insTTCCC) c.404-59_404-58insTTCCC (n.404-59_404-58insTTCCC) n.606-59_606-58insTTCCC | gnomAD v4 |
11 | g.17527099T>A | CA2612676461 | USH1C | c.497-59A>T (n.497-59A>T) c.530-59A>T (n.530-59A>T) c.404-59A>T (n.404-59A>T) n.606-59A>T | gnomAD v4 |
11 | g.17527099T>C | CA597668828 | USH1C | c.497-59A>G (n.497-59A>G) c.530-59A>G (n.530-59A>G) c.404-59A>G (n.404-59A>G) n.606-59A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17527099T>G | CA935547294 | USH1C | c.497-59A>C (n.497-59A>C) c.530-59A>C (n.530-59A>C) c.404-59A>C (n.404-59A>C) n.606-59A>C | gnomAD v3 gnomAD v4 |
11 | g.17527099T= | CA1955186935 | USH1C | c.497-59A= (n.497-59A=) c.530-59A= (n.530-59A=) c.404-59A= (n.404-59A=) n.606-59A= | |
11 | g.17527099_17527100insAT | CA2790593883 | USH1C | c.497-59_497-58insTA (n.497-59_497-58insTA) c.530-59_530-58insTA (n.530-59_530-58insTA) c.404-59_404-58insTA (n.404-59_404-58insTA) n.606-59_606-58insTA | |
11 | g.17527099_17527118del | CA2612676464 | USH1C | c.497-78_497-59del (n.497-78_497-59del) c.530-78_530-59del (n.530-78_530-59del) c.404-78_404-59del (n.404-78_404-59del) n.606-78_606-59del | gnomAD v4 |
11 | g.17527100del | CA2790593887 | USH1C | c.497-60del (n.497-60del) c.530-60del (n.530-60del) c.404-60del (n.404-60del) n.606-60del | |
11 | g.17527100C>A | CA1955186937 | USH1C | c.497-60G>T (n.497-60G>T) c.530-60G>T (n.530-60G>T) c.404-60G>T (n.404-60G>T) n.606-60G>T | dbSNP |
11 | g.17527100C= | CA1955186936 | USH1C | c.497-60G= (n.497-60G=) c.530-60G= (n.530-60G=) c.404-60G= (n.404-60G=) n.606-60G= | |
11 | g.17527100C>G | CA2790593890 | USH1C | c.497-60G>C (n.497-60G>C) c.530-60G>C (n.530-60G>C) c.404-60G>C (n.404-60G>C) n.606-60G>C | |
11 | g.17527100_17527104del | CA2790593889 | USH1C | c.497-64_497-60del (n.497-64_497-60del) c.530-64_530-60del (n.530-64_530-60del) c.404-64_404-60del (n.404-64_404-60del) n.606-64_606-60del | |
11 | g.17527100_17527101insCCCCCGGGGG | CA2612676512 | USH1C | c.497-61_497-60insCCCCCGGGGG (n.497-61_497-60insCCCCCGGGGG) c.530-61_530-60insCCCCCGGGGG (n.530-61_530-60insCCCCCGGGGG) c.404-61_404-60insCCCCCGGGGG (n.404-61_404-60insCCCCCGGGGG) n.606-61_606-60insCCCCCGGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCGGGGGG | CA2612676513 | USH1C | c.497-61_497-60insCCCCCCGGGG (n.497-61_497-60insCCCCCCGGGG) c.530-61_530-60insCCCCCCGGGG (n.530-61_530-60insCCCCCCGGGG) c.404-61_404-60insCCCCCCGGGG (n.404-61_404-60insCCCCCCGGGG) n.606-61_606-60insCCCCCCGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGG | CA2612676515 | USH1C | c.497-61_497-60insCCCCCAGGGG (n.497-61_497-60insCCCCCAGGGG) c.530-61_530-60insCCCCCAGGGG (n.530-61_530-60insCCCCCAGGGG) c.404-61_404-60insCCCCCAGGGG (n.404-61_404-60insCCCCCAGGGG) n.606-61_606-60insCCCCCAGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCTTGGGGG | CA2612676519 | USH1C | c.497-61_497-60insCCCCCAAGGG (n.497-61_497-60insCCCCCAAGGG) c.530-61_530-60insCCCCCAAGGG (n.530-61_530-60insCCCCCAAGGG) c.404-61_404-60insCCCCCAAGGG (n.404-61_404-60insCCCCCAAGGG) n.606-61_606-60insCCCCCAAGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGGA | CA2612676517 | USH1C | c.497-61_497-60insTCCCCCAGGGG (n.497-61_497-60insTCCCCCAGGGG) c.530-61_530-60insTCCCCCAGGGG (n.530-61_530-60insTCCCCCAGGGG) c.404-61_404-60insTCCCCCAGGGG (n.404-61_404-60insTCCCCCAGGGG) n.606-61_606-60insTCCCCCAGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGGG | CA2612676518 | USH1C | c.497-61_497-60insCCCCCCAGGGG (n.497-61_497-60insCCCCCCAGGGG) c.530-61_530-60insCCCCCCAGGGG (n.530-61_530-60insCCCCCCAGGGG) c.404-61_404-60insCCCCCCAGGGG (n.404-61_404-60insCCCCCCAGGGG) n.606-61_606-60insCCCCCCAGGGG | gnomAD v4 |
11 | g.17527101A= | CA1955186938 | USH1C | c.497-61T= (n.497-61T=) c.530-61T= (n.530-61T=) c.404-61T= (n.404-61T=) n.606-61T= | |
11 | g.17527101A>C | CA935547296 | USH1C | c.497-61T>G (n.497-61T>G) c.530-61T>G (n.530-61T>G) c.404-61T>G (n.404-61T>G) n.606-61T>G | gnomAD v3 gnomAD v4 |
11 | g.17527101A>T | CA1955186939 | USH1C | c.497-61T>A (n.497-61T>A) c.530-61T>A (n.530-61T>A) c.404-61T>A (n.404-61T>A) n.606-61T>A | dbSNP gnomAD v4 |
11 | g.17527101_17527102insAG | CA2790593903 | USH1C | c.497-62_497-61insCT (n.497-62_497-61insCT) c.530-62_530-61insCT (n.530-62_530-61insCT) c.404-62_404-61insCT (n.404-62_404-61insCT) n.606-62_606-61insCT | |
11 | g.17527101_17527102insACAT | CA2790593904 | USH1C | c.497-62_497-61insATGT (n.497-62_497-61insATGT) c.530-62_530-61insATGT (n.530-62_530-61insATGT) c.404-62_404-61insATGT (n.404-62_404-61insATGT) n.606-62_606-61insATGT | |
11 | g.17527102T>A | CA2612676527 | USH1C | c.497-62A>T (n.497-62A>T) c.530-62A>T (n.530-62A>T) c.404-62A>T (n.404-62A>T) n.606-62A>T | gnomAD v4 |
11 | g.17527102T>C | CA2790593899 | USH1C | c.497-62A>G (n.497-62A>G) c.530-62A>G (n.530-62A>G) c.404-62A>G (n.404-62A>G) n.606-62A>G | |
11 | g.17527102T>G | CA2612676524 | USH1C | c.497-62A>C (n.497-62A>C) c.530-62A>C (n.530-62A>C) c.404-62A>C (n.404-62A>C) n.606-62A>C | gnomAD v4 |
11 | g.17527102_17527103del | CA2612676523 | USH1C | c.497-63_497-62del (n.497-63_497-62del) c.530-63_530-62del (n.530-63_530-62del) c.404-63_404-62del (n.404-63_404-62del) n.606-63_606-62del | gnomAD v4 |
11 | g.17527103_17527107del | CA2790593901 | USH1C | c.497-66_497-62del (n.497-66_497-62del) c.530-66_530-62del (n.530-66_530-62del) c.404-66_404-62del (n.404-66_404-62del) n.606-66_606-62del | |
11 | g.17527103_17527144del | CA2612676525 | USH1C | c.496+80_497-62del (n.496+80_497-62del) c.529+80_530-62del (n.529+80_530-62del) c.403+80_404-62del (n.403+80_404-62del) n.605+80_606-62del | dbSNP gnomAD v4 |
11 | g.17527103G>A | CA2574769494 | USH1C | c.497-63C>T (n.497-63C>T) c.530-63C>T (n.530-63C>T) c.404-63C>T (n.404-63C>T) n.606-63C>T | |
11 | g.17527103G>T | CA2612676529 | USH1C | c.497-63C>A (n.497-63C>A) c.530-63C>A (n.530-63C>A) c.404-63C>A (n.404-63C>A) n.606-63C>A | gnomAD v4 |
11 | g.17527104del | CA2790593907 | USH1C | c.497-63del (n.497-63del) c.530-63del (n.530-63del) c.404-63del (n.404-63del) n.606-63del | |
11 | g.17527104_17527106del | CA2574769492 | USH1C | c.497-65_497-63del (n.497-65_497-63del) c.530-65_530-63del (n.530-65_530-63del) c.404-65_404-63del (n.404-65_404-63del) n.606-65_606-63del | |
11 | g.17527103_17527104insA | CA2790593917 | USH1C | c.497-64_497-63insT (n.497-64_497-63insT) c.530-64_530-63insT (n.530-64_530-63insT) c.404-64_404-63insT (n.404-64_404-63insT) n.606-64_606-63insT | |
11 | g.17527103_17527104insACA | CA2790593915 | USH1C | c.497-64_497-63insTGT (n.497-64_497-63insTGT) c.530-64_530-63insTGT (n.530-64_530-63insTGT) c.404-64_404-63insTGT (n.404-64_404-63insTGT) n.606-64_606-63insTGT | |
11 | g.17527103_17527104insACAC | CA2790593914 | USH1C | c.497-64_497-63insGTGT (n.497-64_497-63insGTGT) c.530-64_530-63insGTGT (n.530-64_530-63insGTGT) c.404-64_404-63insGTGT (n.404-64_404-63insGTGT) n.606-64_606-63insGTGT | |
11 | g.17527104G>A | CA2612676532 | USH1C | c.497-64C>T (n.497-64C>T) c.530-64C>T (n.530-64C>T) c.404-64C>T (n.404-64C>T) n.606-64C>T | gnomAD v4 |
11 | g.17527104G>C | CA674239486 | USH1C | c.497-64C>G (n.497-64C>G) c.530-64C>G (n.530-64C>G) c.404-64C>G (n.404-64C>G) n.606-64C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527104G= | CA1955186940 | USH1C | c.497-64C= (n.497-64C=) c.530-64C= (n.530-64C=) c.404-64C= (n.404-64C=) n.606-64C= | |
11 | g.17527104_17527107del | CA2790593912 | USH1C | c.497-67_497-64del (n.497-67_497-64del) c.530-67_530-64del (n.530-67_530-64del) c.404-67_404-64del (n.404-67_404-64del) n.606-67_606-64del | |
11 | g.17527105A>C | CA2790593920 | USH1C | c.497-65T>G (n.497-65T>G) c.530-65T>G (n.530-65T>G) c.404-65T>G (n.404-65T>G) n.606-65T>G | |
11 | g.17527105A>G | CA2530817438 | USH1C | c.497-65T>C (n.497-65T>C) c.530-65T>C (n.530-65T>C) c.404-65T>C (n.404-65T>C) n.606-65T>C | gnomAD v4 |
11 | g.17527105_17527106insCAC | CA2790593923 | USH1C | c.497-66_497-65insGTG (n.497-66_497-65insGTG) c.530-66_530-65insGTG (n.530-66_530-65insGTG) c.404-66_404-65insGTG (n.404-66_404-65insGTG) n.606-66_606-65insGTG | |
11 | g.17527106G>A | CA2612676535 | USH1C | c.497-66C>T (n.497-66C>T) c.530-66C>T (n.530-66C>T) c.404-66C>T (n.404-66C>T) n.606-66C>T | gnomAD v4 |
11 | g.17527106G>C | CA2612676536 | USH1C | c.497-66C>G (n.497-66C>G) c.530-66C>G (n.530-66C>G) c.404-66C>G (n.404-66C>G) n.606-66C>G | gnomAD v4 |
11 | g.17527106_17527107del | CA2790593924 | USH1C | c.497-67_497-66del (n.497-67_497-66del) c.530-67_530-66del (n.530-67_530-66del) c.404-67_404-66del (n.404-67_404-66del) n.606-67_606-66del | |
11 | g.17527106_17527107insAC | CA2790593936 | USH1C | c.497-67_497-66insGT (n.497-67_497-66insGT) c.530-67_530-66insGT (n.530-67_530-66insGT) c.404-67_404-66insGT (n.404-67_404-66insGT) n.606-67_606-66insGT | |
11 | g.17527106_17527107insACAT | CA2790593929 | USH1C | c.497-67_497-66insATGT (n.497-67_497-66insATGT) c.530-67_530-66insATGT (n.530-67_530-66insATGT) c.404-67_404-66insATGT (n.404-67_404-66insATGT) n.606-67_606-66insATGT | |
11 | g.17527107del | CA2790593935 | USH1C | c.497-67del (n.497-67del) c.530-67del (n.530-67del) c.404-67del (n.404-67del) n.606-67del | |
11 | g.17527107T>A | CA2790593931 | USH1C | c.497-67A>T (n.497-67A>T) c.530-67A>T (n.530-67A>T) c.404-67A>T (n.404-67A>T) n.606-67A>T | |
11 | g.17527107T>G | CA935547299 | USH1C | c.497-67A>C (n.497-67A>C) c.530-67A>C (n.530-67A>C) c.404-67A>C (n.404-67A>C) n.606-67A>C | gnomAD v3 gnomAD v4 |
11 | g.17527108_17527110del | CA2790593933 | USH1C | c.497-69_497-67del (n.497-69_497-67del) c.530-69_530-67del (n.530-69_530-67del) c.404-69_404-67del (n.404-69_404-67del) n.606-69_606-67del | |
11 | g.17527108A>G | CA2574769495 | USH1C | c.497-68T>C (n.497-68T>C) c.530-68T>C (n.530-68T>C) c.404-68T>C (n.404-68T>C) n.606-68T>C | |
11 | g.17527108A>T | CA935547300 | USH1C | c.497-68T>A (n.497-68T>A) c.530-68T>A (n.530-68T>A) c.404-68T>A (n.404-68T>A) n.606-68T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527109del | CA2790593939 | USH1C | c.497-69del (n.497-69del) c.530-69del (n.530-69del) c.404-69del (n.404-69del) n.606-69del | |
11 | g.17527109C>T | CA2612676539 | USH1C | c.497-69G>A (n.497-69G>A) c.530-69G>A (n.530-69G>A) c.404-69G>A (n.404-69G>A) n.606-69G>A | gnomAD v4 |
11 | g.17527109_17527111del | CA2790593940 | USH1C | c.497-71_497-69del (n.497-71_497-69del) c.530-71_530-69del (n.530-71_530-69del) c.404-71_404-69del (n.404-71_404-69del) n.606-71_606-69del | |
11 | g.17527109_17527142del | CA2790593941 | USH1C | c.496+81_497-69del (n.496+81_497-69del) c.529+81_530-69del (n.529+81_530-69del) c.403+81_404-69del (n.403+81_404-69del) n.605+81_606-69del | |
11 | g.17527109_17527110insAT | CA2790593942 | USH1C | c.497-70_497-69insAT (n.497-70_497-69insAT) c.530-70_530-69insAT (n.530-70_530-69insAT) c.404-70_404-69insAT (n.404-70_404-69insAT) n.606-70_606-69insAT | |
11 | g.17527110T>A | CA2790593944 | USH1C | c.497-70A>T (n.497-70A>T) c.530-70A>T (n.530-70A>T) c.404-70A>T (n.404-70A>T) n.606-70A>T | |
11 | g.17527110T>C | CA2574769496 | USH1C | c.497-70A>G (n.497-70A>G) c.530-70A>G (n.530-70A>G) c.404-70A>G (n.404-70A>G) n.606-70A>G | |
11 | g.17527110T>G | CA2533895557 | USH1C | c.497-70A>C (n.497-70A>C) c.530-70A>C (n.530-70A>C) c.404-70A>C (n.404-70A>C) n.606-70A>C | |
11 | g.17527110_17527111del | CA2790593943 | USH1C | c.497-71_497-70del (n.497-71_497-70del) c.530-71_530-70del (n.530-71_530-70del) c.404-71_404-70del (n.404-71_404-70del) n.606-71_606-70del | |
11 | g.17527110_17527111insA | CA2790593957 | USH1C | c.497-71_497-70insT (n.497-71_497-70insT) c.530-71_530-70insT (n.530-71_530-70insT) c.404-71_404-70insT (n.404-71_404-70insT) n.606-71_606-70insT | |
11 | g.17527110_17527111insACA | CA2790593955 | USH1C | c.497-71_497-70insTGT (n.497-71_497-70insTGT) c.530-71_530-70insTGT (n.530-71_530-70insTGT) c.404-71_404-70insTGT (n.404-71_404-70insTGT) n.606-71_606-70insTGT | |
11 | g.17527110_17527111insAGG | CA2790593950 | USH1C | c.497-71_497-70insCCT (n.497-71_497-70insCCT) c.530-71_530-70insCCT (n.530-71_530-70insCCT) c.404-71_404-70insCCT (n.404-71_404-70insCCT) n.606-71_606-70insCCT | |
11 | g.17527111del | CA2790593959 | USH1C | c.497-71del (n.497-71del) c.530-71del (n.530-71del) c.404-71del (n.404-71del) n.606-71del | |
11 | g.17527111G>A | CA2538467653 | USH1C | c.497-71C>T (n.497-71C>T) c.530-71C>T (n.530-71C>T) c.404-71C>T (n.404-71C>T) n.606-71C>T | |
11 | g.17527111G>C | CA674239493 | USH1C | c.497-71C>G (n.497-71C>G) c.530-71C>G (n.530-71C>G) c.404-71C>G (n.404-71C>G) n.606-71C>G | dbSNP gnomAD v4 |
11 | g.17527111G= | CA1955186941 | USH1C | c.497-71C= (n.497-71C=) c.530-71C= (n.530-71C=) c.404-71C= (n.404-71C=) n.606-71C= | |
11 | g.17527111G>T | CA2790593952 | USH1C | c.497-71C>A (n.497-71C>A) c.530-71C>A (n.530-71C>A) c.404-71C>A (n.404-71C>A) n.606-71C>A | |
11 | g.17527111_17527112delinsGA | CA1955186942 | USH1C | c.497-72_497-71delinsTC (n.497-72_497-71delinsTC) c.530-72_530-71delinsTC (n.530-72_530-71delinsTC) c.404-72_404-71delinsTC (n.404-72_404-71delinsTC) n.606-72_606-71delinsTC | |
11 | g.17527111_17527138del | CA2592429713 | USH1C | c.496+85_497-71del (n.496+85_497-71del) c.529+85_530-71del (n.529+85_530-71del) c.403+85_404-71del (n.403+85_404-71del) n.605+85_606-71del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527151del | CA2612676545 | USH1C | c.496+72_497-71del (n.496+72_497-71del) c.529+72_530-71del (n.529+72_530-71del) c.403+72_404-71del (n.403+72_404-71del) n.605+72_606-71del | gnomAD v4 |
11 | g.17527111_17527112insT | CA2790593967 | USH1C | c.497-72_497-71insA (n.497-72_497-71insA) c.530-72_530-71insA (n.530-72_530-71insA) c.404-72_404-71insA (n.404-72_404-71insA) n.606-72_606-71insA | |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676562 | USH1C | c.497-72_497-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.497-72_497-71insGGGAGGGAGGGCGGGGGAGCAGGG) c.530-72_530-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.530-72_530-71insGGGAGGGAGGGCGGGGGAGCAGGG) c.404-72_404-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.404-72_404-71insGGGAGGGAGGGCGGGGGAGCAGGG) n.606-72_606-71insGGGAGGGAGGGCGGGGGAGCAGGG | gnomAD v4 |
11 | g.17527111_17527112insCCCTGCCCCCCCGCCCTCCCTCCCTCCC | CA2612676570 | USH1C | c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) c.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) c.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG | gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA935547305 | USH1C | c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527112del | CA935547318 | USH1C | c.497-72del (n.497-72del) c.530-72del (n.530-72del) c.404-72del (n.404-72del) n.606-72del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527112A= | CA1955186944 | USH1C | c.497-72T= (n.497-72T=) c.530-72T= (n.530-72T=) c.404-72T= (n.404-72T=) n.606-72T= | |
11 | g.17527112A>C | CA218461492 | USH1C | c.497-72T>G (n.497-72T>G) c.530-72T>G (n.530-72T>G) c.404-72T>G (n.404-72T>G) n.606-72T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112A>G | CA1955186945 | USH1C | c.497-72T>C (n.497-72T>C) c.530-72T>C (n.530-72T>C) c.404-72T>C (n.404-72T>C) n.606-72T>C | dbSNP gnomAD v4 |
11 | g.17527112A>T | CA2790593971 | USH1C | c.497-72T>A (n.497-72T>A) c.530-72T>A (n.530-72T>A) c.404-72T>A (n.404-72T>A) n.606-72T>A | |
11 | g.17527112_17527157delinsACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC | CA1955186943 | USH1C | c.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) n.605+66_606-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT | |
11 | g.17527113C>A | CA2612676728 | USH1C | c.497-73G>T (n.497-73G>T) c.530-73G>T (n.530-73G>T) c.404-73G>T (n.404-73G>T) n.606-73G>T | gnomAD v4 |
11 | g.17527113C>T | CA2612676738 | USH1C | c.497-73G>A (n.497-73G>A) c.530-73G>A (n.530-73G>A) c.404-73G>A (n.404-73G>A) n.606-73G>A | gnomAD v4 |
11 | g.17527114_17527115insATCATGGAGTACTGCCC | CA2612676758 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGG (n.497-73_497-72insGCAGTACTCCATGATGG) c.530-73_530-72insGCAGTACTCCATGATGG (n.530-73_530-72insGCAGTACTCCATGATGG) c.404-73_404-72insGCAGTACTCCATGATGG (n.404-73_404-72insGCAGTACTCCATGATGG) n.606-73_606-72insGCAGTACTCCATGATGG | gnomAD v4 |
11 | g.17527114_17527115insGTCATGGAGTACTGCCC | CA935547346 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGG (n.497-73_497-72insGCAGTACTCCATGACGG) c.530-73_530-72insGCAGTACTCCATGACGG (n.530-73_530-72insGCAGTACTCCATGACGG) c.404-73_404-72insGCAGTACTCCATGACGG (n.404-73_404-72insGCAGTACTCCATGACGG) n.606-73_606-72insGCAGTACTCCATGACGG | gnomAD v3 gnomAD v4 |
11 | g.17527114_17527115insCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676759 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527114_17527115insAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676753 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG | gnomAD v4 |
11 | g.17527114_17527115insGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAGGGAGTACTGCCC | CA2612676763 | USH1C | c.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.606-73_606-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | gnomAD v4 |
11 | g.17527114_17527115insCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCTGCCCTCCCCCCCCCCTCCCCCACCGTCATGGAGTACTGCC | CA1139580649 | USH1C | c.497-73_497-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.497-73_497-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.530-73_530-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.530-73_530-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.404-73_404-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.404-73_404-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) n.606-73_606-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG | |
11 | g.17527114del | CA2612676725 | USH1C | c.497-73del (n.497-73del) c.530-73del (n.530-73del) c.404-73del (n.404-73del) n.606-73del | gnomAD v4 |
11 | g.17527113_17527115del | CA2790594005 | USH1C | c.497-75_497-73del (n.497-75_497-73del) c.530-75_530-73del (n.530-75_530-73del) c.404-75_404-73del (n.404-75_404-73del) n.606-75_606-73del | |
11 | g.17527117_17527118insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2521559069 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG | gnomAD v4 |
11 | g.17527114_17527117del | CA2790594008 | USH1C | c.497-76_497-73del (n.497-76_497-73del) c.530-76_530-73del (n.530-76_530-73del) c.404-76_404-73del (n.404-76_404-73del) n.606-76_606-73del | |
11 | g.17527121_17527122insGCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC | CA935547339 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527122_17527123insGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA2612676720 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG | gnomAD v4 |
11 | g.17527122_17527123insAGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547344 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527122_17527123insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547340 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527123_17527124insCCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA2612676770 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA2612676766 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG | gnomAD v4 |
11 | g.17527126_17527127insATCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC | CA935547343 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527131_17527132insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676778 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676788 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA935547342 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527137_17527138insACACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTC | CA2612676794 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527139_17527140insCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA2612676716 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2592429714 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527145_17527146insCTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA1955186946 | USH1C | c.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP gnomAD v4 |
11 | g.17527146_17527147insGGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA | CA2612676797 | USH1C | c.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527151_17527152insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2570603140 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insCCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676700 | USH1C | c.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insGCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676659 | USH1C | c.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676702 | USH1C | c.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676709 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527153_17527154insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676801 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insGCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676697 | USH1C | c.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676826 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676834 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA2612676693 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527176_17527177insGCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2790594021 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | |
11 | g.17527176_17527177insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676831 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527178_17527179insTCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTC | CA2612676690 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676821 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2531416449 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527183_17527184insTACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCC | CA2612676689 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547348 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2612676820 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA2612676688 | USH1C | c.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA918828305 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527192_17527193insTGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAT | CA2612676686 | USH1C | c.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527196_17527197insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2612676819 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676816 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676682 | USH1C | c.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676683 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527199_17527200insGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA2612676814 | USH1C | c.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676747 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527208_17527209insTCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCT | CA2612676680 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACTGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676670 | USH1C | c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676666 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676752 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCTTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676674 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA915947974 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | ClinVar dbSNP |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA918828304 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527165_17527209dup | CA935547341 | USH1C | c.496+66_497-73dup (n.496+66_497-73dup) c.529+66_530-73dup (n.529+66_530-73dup) c.403+66_404-73dup (n.403+66_404-73dup) n.605+66_606-73dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209dup | CA2612676808 | USH1C | c.496+21_497-73dup (n.496+21_497-73dup) c.529+21_530-73dup (n.529+21_530-73dup) c.403+21_404-73dup (n.403+21_404-73dup) n.605+21_606-73dup | gnomAD v4 |
11 | g.17527165_17527209del | CA218461503 | USH1C | c.496+66_497-73del (n.496+66_497-73del) c.529+66_530-73del (n.529+66_530-73del) c.403+66_404-73del (n.403+66_404-73del) n.605+66_606-73del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209del | CA935547338 | USH1C | c.496+21_497-73del (n.496+21_497-73del) c.529+21_530-73del (n.529+21_530-73del) c.403+21_404-73del (n.403+21_404-73del) n.605+21_606-73del | gnomAD v3 gnomAD v4 |
11 | g.17527113_17527114insA | CA2790594065 | USH1C | c.497-74_497-73insT (n.497-74_497-73insT) c.530-74_530-73insT (n.530-74_530-73insT) c.404-74_404-73insT (n.404-74_404-73insT) n.606-74_606-73insT | |
11 | g.17527113_17527114insAA | CA2790594062 | USH1C | c.497-74_497-73insTT (n.497-74_497-73insTT) c.530-74_530-73insTT (n.530-74_530-73insTT) c.404-74_404-73insTT (n.404-74_404-73insTT) n.606-74_606-73insTT | |
11 | g.17527113_17527114insAGA | CA2790594064 | USH1C | c.497-74_497-73insTCT (n.497-74_497-73insTCT) c.530-74_530-73insTCT (n.530-74_530-73insTCT) c.404-74_404-73insTCT (n.404-74_404-73insTCT) n.606-74_606-73insTCT | |
11 | g.17527114C>A | CA2790594058 | USH1C | c.497-74G>T (n.497-74G>T) c.530-74G>T (n.530-74G>T) c.404-74G>T (n.404-74G>T) n.606-74G>T | |
11 | g.17527114C= | CA1955186947 | USH1C | c.497-74G= (n.497-74G=) c.530-74G= (n.530-74G=) c.404-74G= (n.404-74G=) n.606-74G= | |
11 | g.17527114C>T | CA674239513 | USH1C | c.497-74G>A (n.497-74G>A) c.530-74G>A (n.530-74G>A) c.404-74G>A (n.404-74G>A) n.606-74G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527114_17527115insAG | CA2790594082 | USH1C | c.497-75_497-74insCT (n.497-75_497-74insCT) c.530-75_530-74insCT (n.530-75_530-74insCT) c.404-75_404-74insCT (n.404-75_404-74insCT) n.606-75_606-74insCT | |
11 | g.17527114_17527115insACT | CA2790594073 | USH1C | c.497-75_497-74insAGT (n.497-75_497-74insAGT) c.530-75_530-74insAGT (n.530-75_530-74insAGT) c.404-75_404-74insAGT (n.404-75_404-74insAGT) n.606-75_606-74insAGT | |
11 | g.17527115del | CA2790594075 | USH1C | c.497-75del (n.497-75del) c.530-75del (n.530-75del) c.404-75del (n.404-75del) n.606-75del | |
11 | g.17527115T>A | CA2574769499 | USH1C | c.497-75A>T (n.497-75A>T) c.530-75A>T (n.530-75A>T) c.404-75A>T (n.404-75A>T) n.606-75A>T | gnomAD v4 |
11 | g.17527115T>G | CA2790594080 | USH1C | c.497-75A>C (n.497-75A>C) c.530-75A>C (n.530-75A>C) c.404-75A>C (n.404-75A>C) n.606-75A>C | |
11 | g.17527115_17527118del | CA597668829 | USH1C | c.497-78_497-75del (n.497-78_497-75del) c.530-78_530-75del (n.530-78_530-75del) c.404-78_404-75del (n.404-78_404-75del) n.606-78_606-75del | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527115_17527152del | CA2790594077 | USH1C | c.496+71_497-75del (n.496+71_497-75del) c.529+71_530-75del (n.529+71_530-75del) c.403+71_404-75del (n.403+71_404-75del) n.605+71_606-75del | |
11 | g.17527115_17527159delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA1955186948 | USH1C | c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA | |
11 | g.17527115_17527116insA | CA2790594099 | USH1C | c.497-76_497-75insT (n.497-76_497-75insT) c.530-76_530-75insT (n.530-76_530-75insT) c.404-76_404-75insT (n.404-76_404-75insT) n.606-76_606-75insT | |
11 | g.17527115_17527116insACA | CA2790594091 | USH1C | c.497-76_497-75insTGT (n.497-76_497-75insTGT) c.530-76_530-75insTGT (n.530-76_530-75insTGT) c.404-76_404-75insTGT (n.404-76_404-75insTGT) n.606-76_606-75insTGT | |
11 | g.17527115_17527116insAGTA | CA2790594098 | USH1C | c.497-76_497-75insTACT (n.497-76_497-75insTACT) c.530-76_530-75insTACT (n.530-76_530-75insTACT) c.404-76_404-75insTACT (n.404-76_404-75insTACT) n.606-76_606-75insTACT | |
11 | g.17527116G>A | CA2790594092 | USH1C | c.497-76C>T (n.497-76C>T) c.530-76C>T (n.530-76C>T) c.404-76C>T (n.404-76C>T) n.606-76C>T | |
11 | g.17527116G>C | CA2612676857 | USH1C | c.497-76C>G (n.497-76C>G) c.530-76C>G (n.530-76C>G) c.404-76C>G (n.404-76C>G) n.606-76C>G | gnomAD v4 |
11 | g.17527116G= | CA1955186950 | USH1C | c.497-76C= (n.497-76C=) c.530-76C= (n.530-76C=) c.404-76C= (n.404-76C=) n.606-76C= | |
11 | g.17527116G>T | CA1955186949 | USH1C | c.497-76C>A (n.497-76C>A) c.530-76C>A (n.530-76C>A) c.404-76C>A (n.404-76C>A) n.606-76C>A | dbSNP |
11 | g.17527116_17527117del | CA935547355 | USH1C | c.497-77_497-76del (n.497-77_497-76del) c.530-77_530-76del (n.530-77_530-76del) c.404-77_404-76del (n.404-77_404-76del) n.606-77_606-76del | gnomAD v3 gnomAD v4 |
11 | g.17527116_17527159del | CA935547354 | USH1C | c.496+64_497-76del (n.496+64_497-76del) c.529+64_530-76del (n.529+64_530-76del) c.403+64_404-76del (n.403+64_404-76del) n.605+64_606-76del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527159_17527160insAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676850 | USH1C | c.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527159_17527160insCGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2790594096 | USH1C | c.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | |
11 | g.17527204_17527205insGGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676854 | USH1C | c.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527116_17527117insACA | CA2790594117 | USH1C | c.497-77_497-76insTGT (n.497-77_497-76insTGT) c.530-77_530-76insTGT (n.530-77_530-76insTGT) c.404-77_404-76insTGT (n.404-77_404-76insTGT) n.606-77_606-76insTGT | |
11 | g.17527116_17527117insAGA | CA2790594116 | USH1C | c.497-77_497-76insTCT (n.497-77_497-76insTCT) c.530-77_530-76insTCT (n.530-77_530-76insTCT) c.404-77_404-76insTCT (n.404-77_404-76insTCT) n.606-77_606-76insTCT | |
11 | g.17527116_17527117insAGT | CA2790594115 | USH1C | c.497-77_497-76insACT (n.497-77_497-76insACT) c.530-77_530-76insACT (n.530-77_530-76insACT) c.404-77_404-76insACT (n.404-77_404-76insACT) n.606-77_606-76insACT | |
11 | g.17527116_17527117insAGTT | CA2790594113 | USH1C | c.497-77_497-76insAACT (n.497-77_497-76insAACT) c.530-77_530-76insAACT (n.530-77_530-76insAACT) c.404-77_404-76insAACT (n.404-77_404-76insAACT) n.606-77_606-76insAACT | |
11 | g.17527117C>A | CA2612676864 | USH1C | c.497-77G>T (n.497-77G>T) c.530-77G>T (n.530-77G>T) c.404-77G>T (n.404-77G>T) n.606-77G>T | gnomAD v4 |
11 | g.17527117C>G | CA2790594111 | USH1C | c.497-77G>C (n.497-77G>C) c.530-77G>C (n.530-77G>C) c.404-77G>C (n.404-77G>C) n.606-77G>C | |
11 | g.17527117C>T | CA2790594108 | USH1C | c.497-77G>A (n.497-77G>A) c.530-77G>A (n.530-77G>A) c.404-77G>A (n.404-77G>A) n.606-77G>A | |
11 | g.17527117_17527118delinsCT | CA1955186951 | USH1C | c.497-78_497-77delinsAG (n.497-78_497-77delinsAG) c.530-78_530-77delinsAG (n.530-78_530-77delinsAG) c.404-78_404-77delinsAG (n.404-78_404-77delinsAG) n.606-78_606-77delinsAG | |
11 | g.17527117_17527123del | CA2612676868 | USH1C | c.497-83_497-77del (n.497-83_497-77del) c.530-83_530-77del (n.530-83_530-77del) c.404-83_404-77del (n.404-83_404-77del) n.606-83_606-77del | gnomAD v4 |
11 | g.17527118_17527123del | CA2723302790 | USH1C | c.497-82_497-77del (n.497-82_497-77del) c.530-82_530-77del (n.530-82_530-77del) c.404-82_404-77del (n.404-82_404-77del) n.606-82_606-77del | dbSNP |
11 | g.17527118_17527158del | CA2790594112 | USH1C | c.496+66_497-77del (n.496+66_497-77del) c.529+66_530-77del (n.529+66_530-77del) c.403+66_404-77del (n.403+66_404-77del) n.605+66_606-77del | |
11 | g.17527160_17527161insCCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA2612676862 | USH1C | c.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) n.606-77_606-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG | gnomAD v4 |
11 | g.17527118del | CA935547357 | USH1C | c.497-78del (n.497-78del) c.530-78del (n.530-78del) c.404-78del (n.404-78del) n.606-78del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527118T>A | CA2790594126 | USH1C | c.497-78A>T (n.497-78A>T) c.530-78A>T (n.530-78A>T) c.404-78A>T (n.404-78A>T) n.606-78A>T | |
11 | g.17527118T>C | CA597668831 | USH1C | c.497-78A>G (n.497-78A>G) c.530-78A>G (n.530-78A>G) c.404-78A>G (n.404-78A>G) n.606-78A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527118T>G | CA2790594127 | USH1C | c.497-78A>C (n.497-78A>C) c.530-78A>C (n.530-78A>C) c.404-78A>C (n.404-78A>C) n.606-78A>C | |
11 | g.17527118T= | CA1955186952 | USH1C | c.497-78A= (n.497-78A=) c.530-78A= (n.530-78A=) c.404-78A= (n.404-78A=) n.606-78A= | |
11 | g.17527118_17527161delinsTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA1955186953 | USH1C | c.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.605+62_606-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | |
11 | g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2612676871 | USH1C | c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | gnomAD v4 |
11 | g.17527119C>A | CA2612676879 | USH1C | c.497-79G>T (n.497-79G>T) c.530-79G>T (n.530-79G>T) c.404-79G>T (n.404-79G>T) n.606-79G>T | gnomAD v4 |
11 | g.17527120_17527121insACCGTCATGGAGTACTGCCCTGCTCCCCGCCCTCCCTCCCTCCC | CA918828306 | USH1C | c.497-79_497-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.497-79_497-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) c.530-79_530-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.530-79_530-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) c.404-79_404-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.404-79_404-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) n.606-79_606-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG | dbSNP |
11 | g.17527123dup | CA1955186954 | USH1C | c.497-79dup (n.497-79dup) c.530-79dup (n.530-79dup) c.404-79dup (n.404-79dup) n.606-79dup | dbSNP |
11 | g.17527123del | CA2574769505 | USH1C | c.497-79del (n.497-79del) c.530-79del (n.530-79del) c.404-79del (n.404-79del) n.606-79del | |
11 | g.17527122_17527123del | CA912971872 | USH1C | c.497-80_497-79del (n.497-80_497-79del) c.530-80_530-79del (n.530-80_530-79del) c.404-80_404-79del (n.404-80_404-79del) n.606-80_606-79del | |
11 | g.17527121_17527123del | CA2612676889 | USH1C | c.497-81_497-79del (n.497-81_497-79del) c.530-81_530-79del (n.530-81_530-79del) c.404-81_404-79del (n.404-81_404-79del) n.606-81_606-79del | gnomAD v4 |
11 | g.17527119_17527127del | CA935547363 | USH1C | c.497-87_497-79del (n.497-87_497-79del) c.530-87_530-79del (n.530-87_530-79del) c.404-87_404-79del (n.404-87_404-79del) n.606-87_606-79del | gnomAD v3 gnomAD v4 |
11 | g.17527121_17527127del | CA2612676883 | USH1C | c.497-85_497-79del (n.497-85_497-79del) c.530-85_530-79del (n.530-85_530-79del) c.404-85_404-79del (n.404-85_404-79del) n.606-85_606-79del | gnomAD v4 |
11 | g.17527120_17527127del | CA2592429715 | USH1C | c.497-86_497-79del (n.497-86_497-79del) c.530-86_530-79del (n.530-86_530-79del) c.404-86_404-79del (n.404-86_404-79del) n.606-86_606-79del | gnomAD v3 gnomAD v4 |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA935547362 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527120_17527162del | CA935547377 | USH1C | c.496+62_497-79del (n.496+62_497-79del) c.529+62_530-79del (n.529+62_530-79del) c.403+62_404-79del (n.403+62_404-79del) n.605+62_606-79del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676876 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527119_17527120insTGG | CA2612676893 | USH1C | c.497-80_497-79insCCA (n.497-80_497-79insCCA) c.530-80_530-79insCCA (n.530-80_530-79insCCA) c.404-80_404-79insCCA (n.404-80_404-79insCCA) n.606-80_606-79insCCA | gnomAD v4 |
11 | g.17527120C>A | CA2790594148 | USH1C | c.497-80G>T (n.497-80G>T) c.530-80G>T (n.530-80G>T) c.404-80G>T (n.404-80G>T) n.606-80G>T | |
11 | g.17527120C>T | CA2612676897 | USH1C | c.497-80G>A (n.497-80G>A) c.530-80G>A (n.530-80G>A) c.404-80G>A (n.404-80G>A) n.606-80G>A | gnomAD v4 |
11 | g.17527123_17527127del | CA2612676895 | USH1C | c.497-84_497-80del (n.497-84_497-80del) c.530-84_530-80del (n.530-84_530-80del) c.404-84_404-80del (n.404-84_404-80del) n.606-84_606-80del | dbSNP gnomAD v4 |
11 | g.17527120_17527149del | CA2790594145 | USH1C | c.496+74_497-80del (n.496+74_497-80del) c.529+74_530-80del (n.529+74_530-80del) c.403+74_404-80del (n.403+74_404-80del) n.605+74_606-80del | |
11 | g.17527124_17527167del | CA935547379 | USH1C | c.496+60_497-80del (n.496+60_497-80del) c.529+60_530-80del (n.529+60_530-80del) c.403+60_404-80del (n.403+60_404-80del) n.605+60_606-80del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527121insAGT | CA2790594158 | USH1C | c.497-81_497-80insACT (n.497-81_497-80insACT) c.530-81_530-80insACT (n.530-81_530-80insACT) c.404-81_404-80insACT (n.404-81_404-80insACT) n.606-81_606-80insACT | |
11 | g.17527120_17527121insAGAT | CA2790594156 | USH1C | c.497-81_497-80insATCT (n.497-81_497-80insATCT) c.530-81_530-80insATCT (n.530-81_530-80insATCT) c.404-81_404-80insATCT (n.404-81_404-80insATCT) n.606-81_606-80insATCT | |
11 | g.17527121C>A | CA2574769507 | USH1C | c.497-81G>T (n.497-81G>T) c.530-81G>T (n.530-81G>T) c.404-81G>T (n.404-81G>T) n.606-81G>T | |
11 | g.17527121C>G | CA2612676902 | USH1C | c.497-81G>C (n.497-81G>C) c.530-81G>C (n.530-81G>C) c.404-81G>C (n.404-81G>C) n.606-81G>C | gnomAD v4 |
11 | g.17527121C>T | CA2790594155 | USH1C | c.497-81G>A (n.497-81G>A) c.530-81G>A (n.530-81G>A) c.404-81G>A (n.404-81G>A) n.606-81G>A | |
11 | g.17527124_17527127del | CA2612676900 | USH1C | c.497-84_497-81del (n.497-84_497-81del) c.530-84_530-81del (n.530-84_530-81del) c.404-84_404-81del (n.404-84_404-81del) n.606-84_606-81del | gnomAD v4 |
11 | g.17527124_17527139del | CA2517189317 | USH1C | c.496+87_497-81del (n.496+87_497-81del) c.529+87_530-81del (n.529+87_530-81del) c.403+87_404-81del (n.403+87_404-81del) n.605+87_606-81del | gnomAD v4 |
11 | g.17527121_17527122insAGTG | CA2790594165 | USH1C | c.497-82_497-81insCACT (n.497-82_497-81insCACT) c.530-82_530-81insCACT (n.530-82_530-81insCACT) c.404-82_404-81insCACT (n.404-82_404-81insCACT) n.606-82_606-81insCACT | |
11 | g.17527122C>A | CA2790594169 | USH1C | c.497-82G>T (n.497-82G>T) c.530-82G>T (n.530-82G>T) c.404-82G>T (n.404-82G>T) n.606-82G>T | |
11 | g.17527122C>G | CA2612676905 | USH1C | c.497-82G>C (n.497-82G>C) c.530-82G>C (n.530-82G>C) c.404-82G>C (n.404-82G>C) n.606-82G>C | gnomAD v4 |
11 | g.17527122C>T | CA2790594170 | USH1C | c.497-82G>A (n.497-82G>A) c.530-82G>A (n.530-82G>A) c.404-82G>A (n.404-82G>A) n.606-82G>A | |
11 | g.17527124_17527126del | CA2790594168 | USH1C | c.497-84_497-82del (n.497-84_497-82del) c.530-84_530-82del (n.530-84_530-82del) c.404-84_404-82del (n.404-84_404-82del) n.606-84_606-82del | |
11 | g.17527122_17527123insACA | CA2790594177 | USH1C | c.497-83_497-82insTGT (n.497-83_497-82insTGT) c.530-83_530-82insTGT (n.530-83_530-82insTGT) c.404-83_404-82insTGT (n.404-83_404-82insTGT) n.606-83_606-82insTGT | |
11 | g.17527123C>A | CA2612676913 | USH1C | c.497-83G>T (n.497-83G>T) c.530-83G>T (n.530-83G>T) c.404-83G>T (n.404-83G>T) n.606-83G>T | gnomAD v4 |
11 | g.17527123C= | CA1955186955 | USH1C | c.497-83G= (n.497-83G=) c.530-83G= (n.530-83G=) c.404-83G= (n.404-83G=) n.606-83G= | |
11 | g.17527123C>G | CA2574769511 | USH1C | c.497-83G>C (n.497-83G>C) c.530-83G>C (n.530-83G>C) c.404-83G>C (n.404-83G>C) n.606-83G>C | gnomAD v4 |
11 | g.17527123C>T | CA597668833 | USH1C | c.497-83G>A (n.497-83G>A) c.530-83G>A (n.530-83G>A) c.404-83G>A (n.404-83G>A) n.606-83G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527124_17527125del | CA2612676922 | USH1C | c.497-84_497-83del (n.497-84_497-83del) c.530-84_530-83del (n.530-84_530-83del) c.404-84_404-83del (n.404-84_404-83del) n.606-84_606-83del | gnomAD v4 |
11 | g.17527124_17527129del | CA2612676920 | USH1C | c.497-88_497-83del (n.497-88_497-83del) c.530-88_530-83del (n.530-88_530-83del) c.404-88_404-83del (n.404-88_404-83del) n.606-88_606-83del | gnomAD v4 |
11 | g.17527124_17527133del | CA2612676919 | USH1C | c.497-92_497-83del (n.497-92_497-83del) c.530-92_530-83del (n.530-92_530-83del) c.404-92_404-83del (n.404-92_404-83del) n.606-92_606-83del | gnomAD v4 |
11 | g.17527124_17527137del | CA2790594176 | USH1C | c.496+87_497-83del (n.496+87_497-83del) c.529+87_530-83del (n.529+87_530-83del) c.403+87_404-83del (n.403+87_404-83del) n.605+87_606-83del | |
11 | g.17527123_17527124insACA | CA2790594192 | USH1C | c.497-84_497-83insTGT (n.497-84_497-83insTGT) c.530-84_530-83insTGT (n.530-84_530-83insTGT) c.404-84_404-83insTGT (n.404-84_404-83insTGT) n.606-84_606-83insTGT | |
11 | g.17527123_17527124insAGT | CA2790594191 | USH1C | c.497-84_497-83insACT (n.497-84_497-83insACT) c.530-84_530-83insACT (n.530-84_530-83insACT) c.404-84_404-83insACT (n.404-84_404-83insACT) n.606-84_606-83insACT | |
11 | g.17527124del | CA2612676945 | USH1C | c.497-84del (n.497-84del) c.530-84del (n.530-84del) c.404-84del (n.404-84del) n.606-84del | gnomAD v4 |
11 | g.17527124G>A | CA597668834 | USH1C | c.497-84C>T (n.497-84C>T) c.530-84C>T (n.530-84C>T) c.404-84C>T (n.404-84C>T) n.606-84C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17527124G>C | CA597668835 | USH1C | c.497-84C>G (n.497-84C>G) c.530-84C>G (n.530-84C>G) c.404-84C>G (n.404-84C>G) n.606-84C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527124G= | CA1955186956 | USH1C | c.497-84C= (n.497-84C=) c.530-84C= (n.530-84C=) c.404-84C= (n.404-84C=) n.606-84C= | |
11 | g.17527124G>T | CA1955186957 | USH1C | c.497-84C>A (n.497-84C>A) c.530-84C>A (n.530-84C>A) c.404-84C>A (n.404-84C>A) n.606-84C>A | dbSNP gnomAD v4 |
11 | g.17527124_17527126delinsGCC | CA1955186959 | USH1C | c.497-86_497-84delinsGGC (n.497-86_497-84delinsGGC) c.530-86_530-84delinsGGC (n.530-86_530-84delinsGGC) c.404-86_404-84delinsGGC (n.404-86_404-84delinsGGC) n.606-86_606-84delinsGGC | |
11 | g.17527124_17527128del | CA2528445387 | USH1C | c.497-88_497-84del (n.497-88_497-84del) c.530-88_530-84del (n.530-88_530-84del) c.404-88_404-84del (n.404-88_404-84del) n.606-88_606-84del | dbSNP gnomAD v4 |
11 | g.17527124_17527128delinsGCCCT | CA1955186958 | USH1C | c.497-88_497-84delinsAGGGC (n.497-88_497-84delinsAGGGC) c.530-88_530-84delinsAGGGC (n.530-88_530-84delinsAGGGC) c.404-88_404-84delinsAGGGC (n.404-88_404-84delinsAGGGC) n.606-88_606-84delinsAGGGC | |
11 | g.17527124_17527132del | CA2515751012 | USH1C | c.497-92_497-84del (n.497-92_497-84del) c.530-92_530-84del (n.530-92_530-84del) c.404-92_404-84del (n.404-92_404-84del) n.606-92_606-84del | gnomAD v4 |
11 | g.17527124_17527136del | CA2612676943 | USH1C | c.496+87_497-84del (n.496+87_497-84del) c.529+87_530-84del (n.529+87_530-84del) c.403+87_404-84del (n.403+87_404-84del) n.605+87_606-84del | gnomAD v4 |
11 | g.17527124_17527140del | CA2547258678 | USH1C | c.496+83_497-84del (n.496+83_497-84del) c.529+83_530-84del (n.529+83_530-84del) c.403+83_404-84del (n.403+83_404-84del) n.605+83_606-84del | gnomAD v4 |
11 | g.17527125_17527149del | CA2790594190 | USH1C | c.496+75_497-84del (n.496+75_497-84del) c.529+75_530-84del (n.529+75_530-84del) c.403+75_404-84del (n.403+75_404-84del) n.605+75_606-84del | |
11 | g.17527124_17527163del | CA2517033213 | USH1C | c.496+60_497-84del (n.496+60_497-84del) c.529+60_530-84del (n.529+60_530-84del) c.403+60_404-84del (n.403+60_404-84del) n.605+60_606-84del | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547383 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676928 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v4 |
11 | g.17527124_17527125insAGA | CA2790594199 | USH1C | c.497-85_497-84insTCT (n.497-85_497-84insTCT) c.530-85_530-84insTCT (n.530-85_530-84insTCT) c.404-85_404-84insTCT (n.404-85_404-84insTCT) n.606-85_606-84insTCT | |
11 | g.17527125C>A | CA2790594200 | USH1C | c.497-85G>T (n.497-85G>T) c.530-85G>T (n.530-85G>T) c.404-85G>T (n.404-85G>T) n.606-85G>T | |
11 | g.17527125C>T | CA2612676956 | USH1C | c.497-85G>A (n.497-85G>A) c.530-85G>A (n.530-85G>A) c.404-85G>A (n.404-85G>A) n.606-85G>A | gnomAD v4 |
11 | g.17527125_17527126insACTC | CA1955186962 | USH1C | c.497-85_497-84insAGTG (n.497-85_497-84insAGTG) c.530-85_530-84insAGTG (n.530-85_530-84insAGTG) c.404-85_404-84insAGTG (n.404-85_404-84insAGTG) n.606-85_606-84insAGTG | dbSNP |
11 | g.17527126_17527127del | CA935547386 | USH1C | c.497-86_497-85del (n.497-86_497-85del) c.530-86_530-85del (n.530-86_530-85del) c.404-86_404-85del (n.404-86_404-85del) n.606-86_606-85del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527136_17527139dup | CA2612676973 | USH1C | c.497-88_497-85dup (n.497-88_497-85dup) c.530-88_530-85dup (n.530-88_530-85dup) c.404-88_404-85dup (n.404-88_404-85dup) n.606-88_606-85dup | gnomAD v4 |
11 | g.17527132_17527139dup | CA1955186961 | USH1C | c.497-92_497-85dup (n.497-92_497-85dup) c.530-92_530-85dup (n.530-92_530-85dup) c.404-92_404-85dup (n.404-92_404-85dup) n.606-92_606-85dup | dbSNP |
11 | g.17527136_17527139del | CA379795081 | USH1C | c.497-88_497-85del (n.497-88_497-85del) c.530-88_530-85del (n.530-88_530-85del) c.404-88_404-85del (n.404-88_404-85del) n.606-88_606-85del | dbSNP gnomAD v4 |
11 | g.17527126_17527139del | CA2612676967 | USH1C | c.496+85_497-85del (n.496+85_497-85del) c.529+85_530-85del (n.529+85_530-85del) c.403+85_404-85del (n.403+85_404-85del) n.605+85_606-85del | gnomAD v4 |
11 | g.17527125_17527142del | CA2612676964 | USH1C | c.496+81_497-85del (n.496+81_497-85del) c.529+81_530-85del (n.529+81_530-85del) c.403+81_404-85del (n.403+81_404-85del) n.605+81_606-85del | gnomAD v4 |
11 | g.17527126_17527142del | CA2612676966 | USH1C | c.496+82_497-85del (n.496+82_497-85del) c.529+82_530-85del (n.529+82_530-85del) c.403+82_404-85del (n.403+82_404-85del) n.605+82_606-85del | gnomAD v4 |
11 | g.17527125_17527152delinsCCCTCCCTCCCTCCCACCGTCATGGAGT | CA1955186960 | USH1C | c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG | |
11 | g.17527125_17527162del | CA2612676962 | USH1C | c.496+61_497-85del (n.496+61_497-85del) c.529+61_530-85del (n.529+61_530-85del) c.403+61_404-85del (n.403+61_404-85del) n.605+61_606-85del | gnomAD v4 |
11 | g.17527127_17527168del | CA2612676960 | USH1C | c.496+57_497-85del (n.496+57_497-85del) c.529+57_530-85del (n.529+57_530-85del) c.403+57_404-85del (n.403+57_404-85del) n.605+57_606-85del | gnomAD v4 |
11 | g.17527136_17527184del | CA2612676959 | USH1C | c.496+50_497-85del (n.496+50_497-85del) c.529+50_530-85del (n.529+50_530-85del) c.403+50_404-85del (n.403+50_404-85del) n.605+50_606-85del | gnomAD v4 |
11 | g.17527201_17527202insACCTGCTCCCCCACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676970 | USH1C | c.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-85_606-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527125_17527126insAA | CA2790594203 | USH1C | c.497-86_497-85insTT (n.497-86_497-85insTT) c.530-86_530-85insTT (n.530-86_530-85insTT) c.404-86_404-85insTT (n.404-86_404-85insTT) n.606-86_606-85insTT | |
11 | g.17527125_17527126insTA | CA2790594205 | USH1C | c.497-86_497-85insTA (n.497-86_497-85insTA) c.530-86_530-85insTA (n.530-86_530-85insTA) c.404-86_404-85insTA (n.404-86_404-85insTA) n.606-86_606-85insTA | |
11 | g.17527126C>A | CA1955186964 | USH1C | c.497-86G>T (n.497-86G>T) c.530-86G>T (n.530-86G>T) c.404-86G>T (n.404-86G>T) n.606-86G>T | dbSNP |
11 | g.17527126C= | CA1955186963 | USH1C | c.497-86G= (n.497-86G=) c.530-86G= (n.530-86G=) c.404-86G= (n.404-86G=) n.606-86G= | |
11 | g.17527126C>G | CA2612676980 | USH1C | c.497-86G>C (n.497-86G>C) c.530-86G>C (n.530-86G>C) c.404-86G>C (n.404-86G>C) n.606-86G>C | gnomAD v4 |
11 | g.17527126C>T | CA597668840 | USH1C | c.497-86G>A (n.497-86G>A) c.530-86G>A (n.530-86G>A) c.404-86G>A (n.404-86G>A) n.606-86G>A | dbSNP gnomAD v2 |
11 | g.17527126_17527152del | CA597668838 | USH1C | c.496+71_497-86del (n.496+71_497-86del) c.529+71_530-86del (n.529+71_530-86del) c.403+71_404-86del (n.403+71_404-86del) n.605+71_606-86del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527127C>A | CA2574769519 | USH1C | c.497-87G>T (n.497-87G>T) c.530-87G>T (n.530-87G>T) c.404-87G>T (n.404-87G>T) n.606-87G>T | |
11 | g.17527127C>T | CA2790594206 | USH1C | c.497-87G>A (n.497-87G>A) c.530-87G>A (n.530-87G>A) c.404-87G>A (n.404-87G>A) n.606-87G>A | |
11 | g.17527128_17527129del | CA2612676984 | USH1C | c.497-88_497-87del (n.497-88_497-87del) c.530-88_530-87del (n.530-88_530-87del) c.404-88_404-87del (n.404-88_404-87del) n.606-88_606-87del | gnomAD v4 |
11 | g.17527128del | CA2612676993 | USH1C | c.497-88del (n.497-88del) c.530-88del (n.530-88del) c.404-88del (n.404-88del) n.606-88del | gnomAD v4 |
11 | g.17527128T>A | CA2612676988 | USH1C | c.497-88A>T (n.497-88A>T) c.530-88A>T (n.530-88A>T) c.404-88A>T (n.404-88A>T) n.606-88A>T | gnomAD v4 |
11 | g.17527128T>C | CA597668842 | USH1C | c.497-88A>G (n.497-88A>G) c.530-88A>G (n.530-88A>G) c.404-88A>G (n.404-88A>G) n.606-88A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527128T= | CA1955186965 | USH1C | c.497-88A= (n.497-88A=) c.530-88A= (n.530-88A=) c.404-88A= (n.404-88A=) n.606-88A= | |
11 | g.17527128_17527132del | CA2612676990 | USH1C | c.497-92_497-88del (n.497-92_497-88del) c.530-92_530-88del (n.530-92_530-88del) c.404-92_404-88del (n.404-92_404-88del) n.606-92_606-88del | gnomAD v4 |
11 | g.17527128_17527136del | CA2612676986 | USH1C | c.496+87_497-88del (n.496+87_497-88del) c.529+87_530-88del (n.529+87_530-88del) c.403+87_404-88del (n.403+87_404-88del) n.605+87_606-88del | gnomAD v4 |
11 | g.17527128_17527140del | CA2612676992 | USH1C | c.496+83_497-88del (n.496+83_497-88del) c.529+83_530-88del (n.529+83_530-88del) c.403+83_404-88del (n.403+83_404-88del) n.605+83_606-88del | gnomAD v4 |
11 | g.17527128_17527144del | CA2612676989 | USH1C | c.496+79_497-88del (n.496+79_497-88del) c.529+79_530-88del (n.529+79_530-88del) c.403+79_404-88del (n.403+79_404-88del) n.605+79_606-88del | gnomAD v4 |
11 | g.17527128_17527171delinsTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC | CA1955186966 | USH1C | c.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) n.605+52_606-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA | |
11 | g.17527129C>A | CA2790594211 | USH1C | c.497-89G>T (n.497-89G>T) c.530-89G>T (n.530-89G>T) c.404-89G>T (n.404-89G>T) n.606-89G>T | |
11 | g.17527131_17527139del | CA2790594210 | USH1C | c.496+86_497-89del (n.496+86_497-89del) c.529+86_530-89del (n.529+86_530-89del) c.403+86_404-89del (n.403+86_404-89del) n.605+86_606-89del | |
11 | g.17527132_17527167del | CA935547391 | USH1C | c.496+59_497-89del (n.496+59_497-89del) c.529+59_530-89del (n.529+59_530-89del) c.403+59_404-89del (n.403+59_404-89del) n.605+59_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527129_17527168del | CA2612677001 | USH1C | c.496+55_497-89del (n.496+55_497-89del) c.529+55_530-89del (n.529+55_530-89del) c.403+55_404-89del (n.403+55_404-89del) n.605+55_606-89del | dbSNP gnomAD v4 |
11 | g.17527132_17527168del | CA2592429716 | USH1C | c.496+58_497-89del (n.496+58_497-89del) c.529+58_530-89del (n.529+58_530-89del) c.403+58_404-89del (n.403+58_404-89del) n.605+58_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527131_17527168del | CA2612677000 | USH1C | c.496+57_497-89del (n.496+57_497-89del) c.529+57_530-89del (n.529+57_530-89del) c.403+57_404-89del (n.403+57_404-89del) n.605+57_606-89del | gnomAD v4 |
11 | g.17527172_17527173insCCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676996 | USH1C | c.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527172_17527173insGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676998 | USH1C | c.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527130_17527172del | CA935547394 | USH1C | c.496+52_497-89del (n.496+52_497-89del) c.529+52_530-89del (n.529+52_530-89del) c.403+52_404-89del (n.403+52_404-89del) n.605+52_606-89del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527140_17527180dup | CA2612676995 | USH1C | c.496+54_497-89dup (n.496+54_497-89dup) c.529+54_530-89dup (n.529+54_530-89dup) c.403+54_404-89dup (n.403+54_404-89dup) n.605+54_606-89dup | gnomAD v4 |
11 | g.17527140_17527180del | CA2612677002 | USH1C | c.496+54_497-89del (n.496+54_497-89del) c.529+54_530-89del (n.529+54_530-89del) c.403+54_404-89del (n.403+54_404-89del) n.605+54_606-89del | gnomAD v4 |