| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
| 1 | g.215675406_215675407del | CA2695199974 | USH2A | c.12505_12506del (p.Thr4169GlnfsTer3)
| ClinVar |
| 1 | g.215675406T>A | CA344850761 | USH2A | c.12505A>T (p.Thr4169Ser)
| |
| 1 | g.215675406T>C | CA179513 | USH2A | c.12505A>G (p.Thr4169Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675406T>G | CA344850762 | USH2A | c.12505A>C (p.Thr4169Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675406T= | CA1141314997 | USH2A | c.12505A= (p.Thr4169=)
| |
| 1 | g.215675407G>A | CA423311338 | USH2A | c.12504C>T (p.Ser4168=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675407G>C | CA423311340 | USH2A | c.12504C>G (p.Ser4168=)
| |
| 1 | g.215675407G>T | CA423311342 | USH2A | c.12504C>A (p.Ser4168=)
| |
| 1 | g.215675408G>A | CA344850763 | USH2A | c.12503C>T (p.Ser4168Phe)
| |
| 1 | g.215675408G>C | CA344850764 | USH2A | c.12503C>G (p.Ser4168Cys)
| |
| 1 | g.215675408G>T | CA344850765 | USH2A | c.12503C>A (p.Ser4168Tyr)
| |
| 1 | g.215675409A>C | CA344850768 | USH2A | c.12502T>G (p.Ser4168Ala)
| |
| 1 | g.215675409A>G | CA344850766 | USH2A | c.12502T>C (p.Ser4168Pro)
| gnomAD v4 |
| 1 | g.215675409A>T | CA344850767 | USH2A | c.12502T>A (p.Ser4168Thr)
| ClinVar dbSNP |
| 1 | g.215675410C>A | CA344850769 | USH2A | c.12501G>T (p.Lys4167Asn)
| dbSNP gnomAD v4 |
| 1 | g.215675410C= | CA1220373912 | USH2A | c.12501G= (p.Lys4167=)
| |
| 1 | g.215675410C>G | CA344850770 | USH2A | c.12501G>C (p.Lys4167Asn)
| |
| 1 | g.215675410C>T | CA423311351 | USH2A | c.12501G>A (p.Lys4167=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675411T>A | CA344850771 | USH2A | c.12500A>T (p.Lys4167Met)
| |
| 1 | g.215675411T>C | CA344850772 | USH2A | c.12500A>G (p.Lys4167Arg)
| |
| 1 | g.215675411T>G | CA344850773 | USH2A | c.12500A>C (p.Lys4167Thr)
| |
| 1 | g.215675412T>A | CA344850774 | USH2A | c.12499A>T (p.Lys4167Ter)
| |
| 1 | g.215675412T>C | CA344850776 | USH2A | c.12499A>G (p.Lys4167Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675412T>G | CA344850775 | USH2A | c.12499A>C (p.Lys4167Gln)
| |
| 1 | g.215675412T= | CA1220373913 | USH2A | c.12499A= (p.Lys4167=)
| |
| 1 | g.215675413C>A | CA423311363 | USH2A | c.12498G>T (p.Val4166=)
| |
| 1 | g.215675413C>G | CA423311364 | USH2A | c.12498G>C (p.Val4166=)
| |
| 1 | g.215675413C>T | CA423311366 | USH2A | c.12498G>A (p.Val4166=)
| |
| 1 | g.215675414A= | CA1143922967 | USH2A | c.12497T= (p.Val4166=)
| |
| 1 | g.215675414A>C | CA344850777 | USH2A | c.12497T>G (p.Val4166Gly)
| |
| 1 | g.215675414A>G | CA37413137 | USH2A | c.12497T>C (p.Val4166Ala)
| dbSNP |
| 1 | g.215675414A>T | CA344850778 | USH2A | c.12497T>A (p.Val4166Glu)
| |
| 1 | g.215675415C>A | CA344850779 | USH2A | c.12496G>T (p.Val4166Leu)
| |
| 1 | g.215675415C= | CA1148334050 | USH2A | c.12496G= (p.Val4166=)
| |
| 1 | g.215675415C>G | CA344850780 | USH2A | c.12496G>C (p.Val4166Leu)
| |
| 1 | g.215675415C>T | CA1393457 | USH2A | c.12496G>A (p.Val4166Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675416A= | CA1220373914 | USH2A | c.12495T= (p.Ser4165=)
| |
| 1 | g.215675416A>C | CA423311383 | USH2A | c.12495T>G (p.Ser4165=)
| |
| 1 | g.215675416A>G | CA423311381 | USH2A | c.12495T>C (p.Ser4165=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675416A>T | CA423311378 | USH2A | c.12495T>A (p.Ser4165=)
| |
| 1 | g.215675416dup | CA2586968179 | USH2A | c.12495dup (p.Val4166CysfsTer7)
| |
| 1 | g.215675417G>A | CA344850781 | USH2A | c.12494C>T (p.Ser4165Phe)
| gnomAD v4 |
| 1 | g.215675417G>C | CA344850782 | USH2A | c.12494C>G (p.Ser4165Cys)
| |
| 1 | g.215675417G>T | CA344850783 | USH2A | c.12494C>A (p.Ser4165Tyr)
| |
| 1 | g.215675418A= | CA1220373915 | USH2A | c.12493T= (p.Ser4165=)
| |
| 1 | g.215675418A>C | CA37413145 | USH2A | c.12493T>G (p.Ser4165Ala)
| dbSNP gnomAD v4 |
| 1 | g.215675418A>G | CA344850784 | USH2A | c.12493T>C (p.Ser4165Pro)
| |
| 1 | g.215675418A>T | CA344850785 | USH2A | c.12493T>A (p.Ser4165Thr)
| |
| 1 | g.215675419G>A | CA423311392 | USH2A | c.12492C>T (p.His4164=)
| ClinVar gnomAD v4 |
| 1 | g.215675419G>C | CA344850787 | USH2A | c.12492C>G (p.His4164Gln)
| |
| 1 | g.215675419G>T | CA344850786 | USH2A | c.12492C>A (p.His4164Gln)
| |
| 1 | g.215675420T>A | CA344850788 | USH2A | c.12491A>T (p.His4164Leu)
| |
| 1 | g.215675420T>C | CA344850790 | USH2A | c.12491A>G (p.His4164Arg)
| gnomAD v4 |
| 1 | g.215675420T>G | CA344850789 | USH2A | c.12491A>C (p.His4164Pro)
| |
| 1 | g.215675420_215675421delinsTG | CA1220373916 | USH2A | c.12490_12491delinsCA (p.His4164=)
| |
| 1 | g.215675421G>A | CA344850791 | USH2A | c.12490C>T (p.His4164Tyr)
| COSMIC |
| 1 | g.215675421G>C | CA344850793 | USH2A | c.12490C>G (p.His4164Asp)
| |
| 1 | g.215675421G>T | CA344850792 | USH2A | c.12490C>A (p.His4164Asn)
| |
| 1 | g.215675422del | CA529002107 | USH2A | c.12490del (p.His4164ThrfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675422G>A | CA423311402 | USH2A | c.12489C>T (p.Val4163=)
| |
| 1 | g.215675422G>C | CA423311404 | USH2A | c.12489C>G (p.Val4163=)
| |
| 1 | g.215675422G>T | CA423311403 | USH2A | c.12489C>A (p.Val4163=)
| ClinVar gnomAD v4 |
| 1 | g.215675423A>C | CA344850794 | USH2A | c.12488T>G (p.Val4163Gly)
| |
| 1 | g.215675423A>G | CA344850796 | USH2A | c.12488T>C (p.Val4163Ala)
| gnomAD v4 |
| 1 | g.215675423A>T | CA344850795 | USH2A | c.12488T>A (p.Val4163Asp)
| |
| 1 | g.215675424C>A | CA344850797 | USH2A | c.12487G>T (p.Val4163Phe)
| |
| 1 | g.215675424C= | CA1142053844 | USH2A | c.12487G= (p.Val4163=)
| |
| 1 | g.215675424C>G | CA344850798 | USH2A | c.12487G>C (p.Val4163Leu)
| dbSNP gnomAD v4 |
| 1 | g.215675424C>T | CA37413147 | USH2A | c.12487G>A (p.Val4163Ile)
| dbSNP |
| 1 | g.215675425A>C | CA423311405 | USH2A | c.12486T>G (p.Thr4162=)
| |
| 1 | g.215675425A>G | CA423311406 | USH2A | c.12486T>C (p.Thr4162=)
| |
| 1 | g.215675425A>T | CA423311408 | USH2A | c.12486T>A (p.Thr4162=)
| |
| 1 | g.215675426G>A | CA344850799 | USH2A | c.12485C>T (p.Thr4162Ile)
| |
| 1 | g.215675426G>C | CA344850800 | USH2A | c.12485C>G (p.Thr4162Ser)
| |
| 1 | g.215675426G= | CA1220373917 | USH2A | c.12485C= (p.Thr4162=)
| |
| 1 | g.215675426G>T | CA344850801 | USH2A | c.12485C>A (p.Thr4162Asn)
| dbSNP |
| 1 | g.215675427T>A | CA344850804 | USH2A | c.12484A>T (p.Thr4162Ser)
| |
| 1 | g.215675427T>C | CA344850803 | USH2A | c.12484A>G (p.Thr4162Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675427T>G | CA344850802 | USH2A | c.12484A>C (p.Thr4162Pro)
| gnomAD v4 |
| 1 | g.215675427T= | CA1220373918 | USH2A | c.12484A= (p.Thr4162=)
| |
| 1 | g.215675428A>C | CA423311417 | USH2A | c.12483T>G (p.Pro4161=)
| |
| 1 | g.215675428A>G | CA423311419 | USH2A | c.12483T>C (p.Pro4161=)
| |
| 1 | g.215675428A>T | CA423311421 | USH2A | c.12483T>A (p.Pro4161=)
| ClinVar dbSNP |
| 1 | g.215675429G>A | CA344850805 | USH2A | c.12482C>T (p.Pro4161Leu)
| ClinVar gnomAD v4 |
| 1 | g.215675429G>C | CA344850806 | USH2A | c.12482C>G (p.Pro4161Arg)
| |
| 1 | g.215675429G>T | CA344850807 | USH2A | c.12482C>A (p.Pro4161His)
| |
| 1 | g.215675430G>A | CA344850808 | USH2A | c.12481C>T (p.Pro4161Ser)
| |
| 1 | g.215675430G>C | CA344850809 | USH2A | c.12481C>G (p.Pro4161Ala)
| gnomAD v4 |
| 1 | g.215675430G>T | CA344850810 | USH2A | c.12481C>A (p.Pro4161Thr)
| |
| 1 | g.215675431A>C | CA423311431 | USH2A | c.12480T>G (p.Ala4160=)
| |
| 1 | g.215675431A>G | CA423311432 | USH2A | c.12480T>C (p.Ala4160=)
| |
| 1 | g.215675431A>T | CA423311434 | USH2A | c.12480T>A (p.Ala4160=)
| |
| 1 | g.215675432G>A | CA1393458 | USH2A | c.12479C>T (p.Ala4160Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675432G>C | CA344850811 | USH2A | c.12479C>G (p.Ala4160Gly)
| |
| 1 | g.215675432G= | CA1220373919 | USH2A | c.12479C= (p.Ala4160=)
| |
| 1 | g.215675432G>T | CA344850812 | USH2A | c.12479C>A (p.Ala4160Asp)
| dbSNP |
| 1 | g.215675433C>A | CA344850813 | USH2A | c.12478G>T (p.Ala4160Ser)
| gnomAD v4 |
| 1 | g.215675433C>G | CA344850814 | USH2A | c.12478G>C (p.Ala4160Pro)
| |
| 1 | g.215675433C>T | CA344850815 | USH2A | c.12478G>A (p.Ala4160Thr)
| gnomAD v4 |
| 1 | g.215675434C>A | CA423311442 | USH2A | c.12477G>T (p.Leu4159=)
| |
| 1 | g.215675434C>G | CA423311444 | USH2A | c.12477G>C (p.Leu4159=)
| |
| 1 | g.215675434C>T | CA423311445 | USH2A | c.12477G>A (p.Leu4159=)
| |
| 1 | g.215675435A>C | CA344850816 | USH2A | c.12476T>G (p.Leu4159Arg)
| gnomAD v4 |
| 1 | g.215675435A>G | CA344850817 | USH2A | c.12476T>C (p.Leu4159Pro)
| |
| 1 | g.215675435A>T | CA344850818 | USH2A | c.12476T>A (p.Leu4159Gln)
| |
| 1 | g.215675436G>A | CA423311449 | USH2A | c.12475C>T (p.Leu4159=)
| |
| 1 | g.215675436G>C | CA344850819 | USH2A | c.12475C>G (p.Leu4159Val)
| |
| 1 | g.215675436G= | CA1220373920 | USH2A | c.12475C= (p.Leu4159=)
| |
| 1 | g.215675436G>T | CA344850820 | USH2A | c.12475C>A (p.Leu4159Met)
| |
| 1 | g.215675437C>A | CA344850821 | USH2A | c.12474G>T (p.Gln4158His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675437C= | CA1220373921 | USH2A | c.12474G= (p.Gln4158=)
| |
| 1 | g.215675437C>G | CA344850822 | USH2A | c.12474G>C (p.Gln4158His)
| |
| 1 | g.215675437C>T | CA423311453 | USH2A | c.12474G>A (p.Gln4158=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675438_215675439insTTTTCT | CA529002108 | USH2A | c.12474_12475insAAAAAG (p.Gln4158_Leu4159insLysLys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675438T>A | CA1393459 | USH2A | c.12473A>T (p.Gln4158Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675438T>C | CA344850823 | USH2A | c.12473A>G (p.Gln4158Arg)
| |
| 1 | g.215675438T>G | CA344850824 | USH2A | c.12473A>C (p.Gln4158Pro)
| |
| 1 | g.215675438T= | CA1220373922 | USH2A | c.12473A= (p.Gln4158=)
| |
| 1 | g.215675439G>A | CA344850825 | USH2A | c.12472C>T (p.Gln4158Ter)
| ClinVar dbSNP |
| 1 | g.215675439G>C | CA344850827 | USH2A | c.12472C>G (p.Gln4158Glu)
| |
| 1 | g.215675439G>T | CA344850826 | USH2A | c.12472C>A (p.Gln4158Lys)
| |
| 1 | g.215675442_215675443del | CA2695199975 | USH2A | c.12471_12472del (p.Gln4158AlafsTer14)
| ClinVar |
| 1 | g.215675440A= | CA1220373923 | USH2A | c.12471T= (p.Ser4157=)
| |
| 1 | g.215675440A>C | CA423311455 | USH2A | c.12471T>G (p.Ser4157=)
| |
| 1 | g.215675440A>G | CA423311456 | USH2A | c.12471T>C (p.Ser4157=)
| ClinVar |
| 1 | g.215675440A>T | CA423311457 | USH2A | c.12471T>A (p.Ser4157=)
| |
| 1 | g.215675440_215675441insTGGGTGCCTTGGGGCCGT | CA529002109 | USH2A | c.12470_12471insACGGCCCCAAGGCACCCA (p.Ser4157_Gln4158insArgProGlnGlyThrHis)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675441G>A | CA344850828 | USH2A | c.12470C>T (p.Ser4157Phe)
| |
| 1 | g.215675441G>C | CA344850829 | USH2A | c.12470C>G (p.Ser4157Cys)
| |
| 1 | g.215675441G= | CA1220373924 | USH2A | c.12470C= (p.Ser4157=)
| |
| 1 | g.215675441G>T | CA344850830 | USH2A | c.12470C>A (p.Ser4157Tyr)
| |
| 1 | g.215675442A>C | CA344850831 | USH2A | c.12469T>G (p.Ser4157Ala)
| gnomAD v4 |
| 1 | g.215675442A>G | CA344850832 | USH2A | c.12469T>C (p.Ser4157Pro)
| |
| 1 | g.215675442A>T | CA344850833 | USH2A | c.12469T>A (p.Ser4157Thr)
| gnomAD v4 |
| 1 | g.215675442dup | CA1393460 | USH2A | c.12469dup (p.Ser4157PhefsTer16)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675442_215675443delinsAG | CA1220373925 | USH2A | c.12468_12469delinsCT (p.Asp4156=)
| |
| 1 | g.215675443del | CA529002110 | USH2A | c.12468del (p.Ser4157LeufsTer10)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675443G>A | CA423311465 | USH2A | c.12468C>T (p.Asp4156=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675443G>C | CA344850834 | USH2A | c.12468C>G (p.Asp4156Glu)
| |
| 1 | g.215675443G= | CA1220373926 | USH2A | c.12468C= (p.Asp4156=)
| |
| 1 | g.215675443G>T | CA344850835 | USH2A | c.12468C>A (p.Asp4156Glu)
| |
| 1 | g.215675444T>A | CA344850836 | USH2A | c.12467A>T (p.Asp4156Val)
| |
| 1 | g.215675444T>C | CA344850837 | USH2A | c.12467A>G (p.Asp4156Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.215675444T>G | CA344850838 | USH2A | c.12467A>C (p.Asp4156Ala)
| |
| 1 | g.215675445C>A | CA344850840 | USH2A | c.12466G>T (p.Asp4156Tyr)
| |
| 1 | g.215675445C= | CA1220373927 | USH2A | c.12466G= (p.Asp4156=)
| |
| 1 | g.215675445C>G | CA344850841 | USH2A | c.12466G>C (p.Asp4156His)
| |
| 1 | g.215675445C>T | CA344850839 | USH2A | c.12466G>A (p.Asp4156Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675446T>A | CA423311473 | USH2A | c.12465A>T (p.Pro4155=)
| |
| 1 | g.215675446T>C | CA423311474 | USH2A | c.12465A>G (p.Pro4155=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675446T>G | CA423311476 | USH2A | c.12465A>C (p.Pro4155=)
| |
| 1 | g.215675447G>A | CA344850842 | USH2A | c.12464C>T (p.Pro4155Leu)
| dbSNP |
| 1 | g.215675447G>C | CA344850843 | USH2A | c.12464C>G (p.Pro4155Arg)
| |
| 1 | g.215675447G= | CA1220373928 | USH2A | c.12464C= (p.Pro4155=)
| |
| 1 | g.215675447G>T | CA344850844 | USH2A | c.12464C>A (p.Pro4155Gln)
| |
| 1 | g.215675448G>A | CA344850845 | USH2A | c.12463C>T (p.Pro4155Ser)
| ClinVar |
| 1 | g.215675448G>C | CA344850846 | USH2A | c.12463C>G (p.Pro4155Ala)
| gnomAD v4 |
| 1 | g.215675448G= | CA1220373929 | USH2A | c.12463C= (p.Pro4155=)
| |
| 1 | g.215675448G>T | CA344850847 | USH2A | c.12463C>A (p.Pro4155Thr)
| |
| 1 | g.215675449A= | CA1148224964 | USH2A | c.12462T= (p.Pro4154=)
| |
| 1 | g.215675449A>C | CA423311478 | USH2A | c.12462T>G (p.Pro4154=)
| ClinVar |
| 1 | g.215675449A>G | CA179515 | USH2A | c.12462T>C (p.Pro4154=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675449A>T | CA423311479 | USH2A | c.12462T>A (p.Pro4154=)
| |
| 1 | g.215675449_215675450insTTTTAA | CA529002111 | USH2A | c.12462_12463insTAAAAT
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675450G>A | CA344850848 | USH2A | c.12461C>T (p.Pro4154Leu)
| gnomAD v4 |
| 1 | g.215675450G>C | CA344850849 | USH2A | c.12461C>G (p.Pro4154Arg)
| |
| 1 | g.215675450G>T | CA344850850 | USH2A | c.12461C>A (p.Pro4154His)
| gnomAD v4 |
| 1 | g.215675451G>A | CA344850851 | USH2A | c.12460C>T (p.Pro4154Ser)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675451G>C | CA344850852 | USH2A | c.12460C>G (p.Pro4154Ala)
| |
| 1 | g.215675451G= | CA1220373930 | USH2A | c.12460C= (p.Pro4154=)
| |
| 1 | g.215675451G>T | CA344850853 | USH2A | c.12460C>A (p.Pro4154Thr)
| dbSNP |
| 1 | g.215675451_215675452insTCATGAATCCTAA | CA529002112 | USH2A | c.12459_12460insTTAGGATTCATGA (p.Pro4154LeufsTer23)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675452G>A | CA423311486 | USH2A | c.12459C>T (p.Ala4153=)
| |
| 1 | g.215675452G>C | CA423311489 | USH2A | c.12459C>G (p.Ala4153=)
| |
| 1 | g.215675452G>T | CA423311491 | USH2A | c.12459C>A (p.Ala4153=)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675453G>A | CA1393461 | USH2A | c.12458C>T (p.Ala4153Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675453G>C | CA344850855 | USH2A | c.12458C>G (p.Ala4153Gly)
| |
| 1 | g.215675453G= | CA1220373931 | USH2A | c.12458C= (p.Ala4153=)
| |
| 1 | g.215675453G>T | CA344850854 | USH2A | c.12458C>A (p.Ala4153Asp)
| gnomAD v4 |
| 1 | g.215675454del | CA2586968182 | USH2A | c.12457del (p.Ala4153ProfsTer14)
| |
| 1 | g.215675454C>A | CA344850856 | USH2A | c.12457G>T (p.Ala4153Ser)
| |
| 1 | g.215675454C= | CA1142059701 | USH2A | c.12457G= (p.Ala4153=)
| |
| 1 | g.215675454C>G | CA344850857 | USH2A | c.12457G>C (p.Ala4153Pro)
| |
| 1 | g.215675454C>T | CA1393462 | USH2A | c.12457G>A (p.Ala4153Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675455T>A | CA344850858 | USH2A | c.12456A>T (p.Glu4152Asp)
| |
| 1 | g.215675455T>C | CA423311498 | USH2A | c.12456A>G (p.Glu4152=)
| |
| 1 | g.215675455T>G | CA344850859 | USH2A | c.12456A>C (p.Glu4152Asp)
| |
| 1 | g.215675456del | CA529002113 | USH2A | c.12456del (p.Ala4153ProfsTer14)
| gnomAD v2 gnomAD v4 |
| 1 | g.215675456T>A | CA344850860 | USH2A | c.12455A>T (p.Glu4152Val)
| |
| 1 | g.215675456T>C | CA1393463 | USH2A | c.12455A>G (p.Glu4152Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675456T>G | CA344850861 | USH2A | c.12455A>C (p.Glu4152Ala)
| |
| 1 | g.215675456T= | CA1220373932 | USH2A | c.12455A= (p.Glu4152=)
| |
| 1 | g.215675457C>A | CA344850862 | USH2A | c.12454G>T (p.Glu4152Ter)
| |
| 1 | g.215675457C>G | CA344850863 | USH2A | c.12454G>C (p.Glu4152Gln)
| |
| 1 | g.215675457C>T | CA344850864 | USH2A | c.12454G>A (p.Glu4152Lys)
| gnomAD v4 |
| 1 | g.215675458A= | CA1220373933 | USH2A | c.12453T= (p.Asp4151=)
| |
| 1 | g.215675458A>C | CA344850865 | USH2A | c.12453T>G (p.Asp4151Glu)
| |
| 1 | g.215675458A>G | CA423311511 | USH2A | c.12453T>C (p.Asp4151=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675458A>T | CA344850866 | USH2A | c.12453T>A (p.Asp4151Glu)
| |
| 1 | g.215675458_215675459insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT | CA529002114 | USH2A | c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT (p.Asp4151GlufsTer27)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675459T>A | CA344850867 | USH2A | c.12452A>T (p.Asp4151Val)
| |
| 1 | g.215675459T>C | CA344850868 | USH2A | c.12452A>G (p.Asp4151Gly)
| COSMIC COSMIC |
| 1 | g.215675459T>G | CA344850869 | USH2A | c.12452A>C (p.Asp4151Ala)
| COSMIC |
| 1 | g.215675460C>A | CA344850870 | USH2A | c.12451G>T (p.Asp4151Tyr)
| |
| 1 | g.215675460C= | CA1148712095 | USH2A | c.12451G= (p.Asp4151=)
| |
| 1 | g.215675460C>G | CA1393464 | USH2A | c.12451G>C (p.Asp4151His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675460C>T | CA344850871 | USH2A | c.12451G>A (p.Asp4151Asn)
| |
| 1 | g.215675461T>A | CA423311522 | USH2A | c.12450A>T (p.Thr4150=)
| |
| 1 | g.215675461T>C | CA423311524 | USH2A | c.12450A>G (p.Thr4150=)
| ClinVar dbSNP |
| 1 | g.215675461T>G | CA423311526 | USH2A | c.12450A>C (p.Thr4150=)
| |
| 1 | g.215675462G>A | CA344850872 | USH2A | c.12449C>T (p.Thr4150Ile)
| |
| 1 | g.215675462G>C | CA344850873 | USH2A | c.12449C>G (p.Thr4150Arg)
| |
| 1 | g.215675462G>T | CA344850874 | USH2A | c.12449C>A (p.Thr4150Lys)
| |
| 1 | g.215675463T>A | CA344850875 | USH2A | c.12448A>T (p.Thr4150Ser)
| |
| 1 | g.215675463T>C | CA344850876 | USH2A | c.12448A>G (p.Thr4150Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.[215675463T>C;216084853C>T] | CA916079398 | USH2A | c.[5012G>A;12448A>G] (p.[Gly1671Asp;Thr4150Ala])
| |
| 1 | g.215675463T>G | CA344850877 | USH2A | c.12448A>C (p.Thr4150Pro)
| |
| 1 | g.215675463T= | CA1220373934 | USH2A | c.12448A= (p.Thr4150=)
| |
| 1 | g.215675464C>A | CA344850878 | USH2A | c.12447G>T (p.Trp4149Cys)
| |
| 1 | g.215675464C>G | CA344850879 | USH2A | c.12447G>C (p.Trp4149Cys)
| |
| 1 | g.215675464C>T | CA344850880 | USH2A | c.12447G>A (p.Trp4149Ter)
| ClinVar |
| 1 | g.215675465C>A | CA344850884 | USH2A | c.12446G>T (p.Trp4149Leu)
| |
| 1 | g.215675465C= | CA1220373935 | USH2A | c.12446G= (p.Trp4149=)
| |
| 1 | g.215675465C>G | CA344850882 | USH2A | c.12446G>C (p.Trp4149Ser)
| |
| 1 | g.215675465C>T | CA344850881 | USH2A | c.12446G>A (p.Trp4149Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675467_215675468del | CA2650500663 | USH2A | c.12445_12446del (p.Trp4149AspfsTer3)
| gnomAD v4 |
| 1 | g.215675466A= | CA1141495405 | USH2A | c.12445T= (p.Trp4149=)
| |
| 1 | g.215675466A>C | CA344850885 | USH2A | c.12445T>G (p.Trp4149Gly)
| |
| 1 | g.215675466A>G | CA143290 | USH2A | c.12445T>C (p.Trp4149Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675466A>T | CA344850887 | USH2A | c.12445T>A (p.Trp4149Arg)
| |
| 1 | g.215675467C>A | CA423311538 | USH2A | c.12444G>T (p.Leu4148=)
| |
| 1 | g.215675467C= | CA1220373936 | USH2A | c.12444G= (p.Leu4148=)
| |
| 1 | g.215675467C>G | CA423311540 | USH2A | c.12444G>C (p.Leu4148=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675467C>T | CA37413162 | USH2A | c.12444G>A (p.Leu4148=)
| dbSNP gnomAD v4 |
| 1 | g.215675468A= | CA1220373937 | USH2A | c.12443T= (p.Leu4148=)
| |
| 1 | g.215675468A>C | CA344850889 | USH2A | c.12443T>G (p.Leu4148Arg)
| |
| 1 | g.215675468A>G | CA10604658 | USH2A | c.12443T>C (p.Leu4148Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675468A>T | CA344850891 | USH2A | c.12443T>A (p.Leu4148Gln)
| |
| 1 | g.215675469G>A | CA423311547 | USH2A | c.12442C>T (p.Leu4148=)
| |
| 1 | g.215675469G>C | CA344850892 | USH2A | c.12442C>G (p.Leu4148Val)
| |
| 1 | g.215675469G>T | CA344850894 | USH2A | c.12442C>A (p.Leu4148Met)
| |
| 1 | g.215675470A>C | CA423311549 | USH2A | c.12441T>G (p.Pro4147=)
| |
| 1 | g.215675470A>G | CA423311551 | USH2A | c.12441T>C (p.Pro4147=)
| |
| 1 | g.215675470A>T | CA423311553 | USH2A | c.12441T>A (p.Pro4147=)
| |
| 1 | g.215675471G>A | CA344850896 | USH2A | c.12440C>T (p.Pro4147Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675471G>C | CA344850897 | USH2A | c.12440C>G (p.Pro4147Arg)
| |
| 1 | g.215675471G= | CA1220373938 | USH2A | c.12440C= (p.Pro4147=)
| |
| 1 | g.215675471G>T | CA344850898 | USH2A | c.12440C>A (p.Pro4147His)
| COSMIC COSMIC |
| 1 | g.215675472G>A | CA344850900 | USH2A | c.12439C>T (p.Pro4147Ser)
| |
| 1 | g.215675472G>C | CA344850902 | USH2A | c.12439C>G (p.Pro4147Ala)
| |
| 1 | g.215675472G>T | CA344850903 | USH2A | c.12439C>A (p.Pro4147Thr)
| |
| 1 | g.215675473C>A | CA344850905 | USH2A | c.12438G>T (p.Gln4146His)
| |
| 1 | g.215675473C>G | CA344850906 | USH2A | c.12438G>C (p.Gln4146His)
| |
| 1 | g.215675473C>T | CA423311568 | USH2A | c.12438G>A (p.Gln4146=)
| |
| 1 | g.215675474T>A | CA344850908 | USH2A | c.12437A>T (p.Gln4146Leu)
| |
| 1 | g.215675474T>C | CA344850910 | USH2A | c.12437A>G (p.Gln4146Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675474T>G | CA344850912 | USH2A | c.12437A>C (p.Gln4146Pro)
| |
| 1 | g.215675474T= | CA1220373939 | USH2A | c.12437A= (p.Gln4146=)
| |
| 1 | g.215675475G>A | CA344850913 | USH2A | c.12436C>T (p.Gln4146Ter)
| |
| 1 | g.215675475G>C | CA344850914 | USH2A | c.12436C>G (p.Gln4146Glu)
| |
| 1 | g.215675475G= | CA1220373940 | USH2A | c.12436C= (p.Gln4146=)
| |
| 1 | g.215675475G>T | CA344850915 | USH2A | c.12436C>A (p.Gln4146Lys)
| dbSNP |
| 1 | g.215675476A>C | CA423311572 | USH2A | c.12435T>G (p.Pro4145=)
| |
| 1 | g.215675476A>G | CA423311574 | USH2A | c.12435T>C (p.Pro4145=)
| |
| 1 | g.215675476A>T | CA423311576 | USH2A | c.12435T>A (p.Pro4145=)
| |
| 1 | g.215675477G>A | CA344850917 | USH2A | c.12434C>T (p.Pro4145Leu)
| gnomAD v4 |
| 1 | g.215675477G>C | CA344850919 | USH2A | c.12434C>G (p.Pro4145Arg)
| |
| 1 | g.215675477G>T | CA344850920 | USH2A | c.12434C>A (p.Pro4145His)
| |
| 1 | g.215675478G>A | CA344850921 | USH2A | c.12433C>T (p.Pro4145Ser)
| |
| 1 | g.215675478G>C | CA344850923 | USH2A | c.12433C>G (p.Pro4145Ala)
| |
| 1 | g.215675478G>T | CA344850924 | USH2A | c.12433C>A (p.Pro4145Thr)
| |
| 1 | g.215675479C>A | CA423311598 | USH2A | c.12432G>T (p.Ala4144=)
| dbSNP gnomAD v4 |
| 1 | g.215675479C= | CA1220373941 | USH2A | c.12432G= (p.Ala4144=)
| |
| 1 | g.215675479C>G | CA423311596 | USH2A | c.12432G>C (p.Ala4144=)
| |
| 1 | g.215675479C>T | CA1393465 | USH2A | c.12432G>A (p.Ala4144=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675480del | CA2586968185 | USH2A | c.12431del (p.Ala4144GlyfsTer23)
| |
| 1 | g.215675480G>A | CA1393466 | USH2A | c.12431C>T (p.Ala4144Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675480G>C | CA344850925 | USH2A | c.12431C>G (p.Ala4144Gly)
| COSMIC |
| 1 | g.215675480G= | CA1147872004 | USH2A | c.12431C= (p.Ala4144=)
| |
| 1 | g.215675480G>T | CA344850927 | USH2A | c.12431C>A (p.Ala4144Glu)
| gnomAD v4 |
| 1 | g.215675481C>A | CA344850929 | USH2A | c.12430G>T (p.Ala4144Ser)
| |
| 1 | g.215675481C= | CA1220373942 | USH2A | c.12430G= (p.Ala4144=)
| |
| 1 | g.215675481C>G | CA344850931 | USH2A | c.12430G>C (p.Ala4144Pro)
| |
| 1 | g.215675481C>T | CA344850932 | USH2A | c.12430G>A (p.Ala4144Thr)
| dbSNP gnomAD v2 |
| 1 | g.215675482C>A | CA423311603 | USH2A | c.12429G>T (p.Ser4143=)
| gnomAD v4 |
| 1 | g.215675482C= | CA1220373943 | USH2A | c.12429G= (p.Ser4143=)
| |
| 1 | g.215675482C>G | CA423311604 | USH2A | c.12429G>C (p.Ser4143=)
| |
| 1 | g.215675482C>T | CA1393467 | USH2A | c.12429G>A (p.Ser4143=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675483G>A | CA1393468 | USH2A | c.12428C>T (p.Ser4143Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675483G>C | CA344850936 | USH2A | c.12428C>G (p.Ser4143Trp)
| |
| 1 | g.215675483G= | CA1143920665 | USH2A | c.12428C= (p.Ser4143=)
| |
| 1 | g.215675483G>T | CA344850937 | USH2A | c.12428C>A (p.Ser4143Ter)
| |
| 1 | g.215675484A>C | CA344850938 | USH2A | c.12427T>G (p.Ser4143Ala)
| |
| 1 | g.215675484A>G | CA344850940 | USH2A | c.12427T>C (p.Ser4143Pro)
| |
| 1 | g.215675484A>T | CA344850942 | USH2A | c.12427T>A (p.Ser4143Thr)
| |
| 1 | g.215675485G>A | CA423311613 | USH2A | c.12426C>T (p.His4142=)
| |
| 1 | g.215675485G>C | CA344850943 | USH2A | c.12426C>G (p.His4142Gln)
| |
| 1 | g.215675485G>T | CA344850945 | USH2A | c.12426C>A (p.His4142Gln)
| |
| 1 | g.215675486T>A | CA344850949 | USH2A | c.12425A>T (p.His4142Leu)
| |
| 1 | g.215675486T>C | CA344850947 | USH2A | c.12425A>G (p.His4142Arg)
| |
| 1 | g.215675486T>G | CA344850946 | USH2A | c.12425A>C (p.His4142Pro)
| |
| 1 | g.215675487G>A | CA1393469 | USH2A | c.12424C>T (p.His4142Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675487G>C | CA344850951 | USH2A | c.12424C>G (p.His4142Asp)
| |
| 1 | g.215675487G= | CA1220373944 | USH2A | c.12424C= (p.His4142=)
| |
| 1 | g.215675487G>T | CA344850953 | USH2A | c.12424C>A (p.His4142Asn)
| |
| 1 | g.215675488T>A | CA423311626 | USH2A | c.12423A>T (p.Ala4141=)
| |
| 1 | g.215675488T>C | CA423311633 | USH2A | c.12423A>G (p.Ala4141=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675488T>G | CA423311634 | USH2A | c.12423A>C (p.Ala4141=)
| |
| 1 | g.215675489G>A | CA344850954 | USH2A | c.12422C>T (p.Ala4141Val)
| dbSNP gnomAD v4 |
| 1 | g.215675489G>C | CA344850955 | USH2A | c.12422C>G (p.Ala4141Gly)
| |
| 1 | g.215675489G= | CA1220373945 | USH2A | c.12422C= (p.Ala4141=)
| |
| 1 | g.215675489G>T | CA344850956 | USH2A | c.12422C>A (p.Ala4141Glu)
| |
| 1 | g.215675490C>A | CA344850958 | USH2A | c.12421G>T (p.Ala4141Ser)
| |
| 1 | g.215675490C>G | CA344850960 | USH2A | c.12421G>C (p.Ala4141Pro)
| |
| 1 | g.215675490C>T | CA344850962 | USH2A | c.12421G>A (p.Ala4141Thr)
| |
| 1 | g.215675491A= | CA1220373946 | USH2A | c.12420T= (p.Cys4140=)
| |
| 1 | g.215675491A>C | CA344850963 | USH2A | c.12420T>G (p.Cys4140Trp)
| |
| 1 | g.215675491A>G | CA423311645 | USH2A | c.12420T>C (p.Cys4140=)
| ClinVar dbSNP |
| 1 | g.215675491A>T | CA344850964 | USH2A | c.12420T>A (p.Cys4140Ter)
| |
| 1 | g.215675492C>A | CA16621587 | USH2A | c.12419G>T (p.Cys4140Phe)
| ClinVar dbSNP |
| 1 | g.215675492C= | CA1220373947 | USH2A | c.12419G= (p.Cys4140=)
| |
| 1 | g.215675492C>G | CA344850966 | USH2A | c.12419G>C (p.Cys4140Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675492C>T | CA344850968 | USH2A | c.12419G>A (p.Cys4140Tyr)
| |
| 1 | g.215675493A= | CA1220373948 | USH2A | c.12418T= (p.Cys4140=)
| |
| 1 | g.215675493A>C | CA344850970 | USH2A | c.12418T>G (p.Cys4140Gly)
| ClinVar dbSNP |
| 1 | g.215675493A>G | CA344850972 | USH2A | c.12418T>C (p.Cys4140Arg)
| |
| 1 | g.215675493A>T | CA344850969 | USH2A | c.12418T>A (p.Cys4140Ser)
| |
| 1 | g.215675494A= | CA1220373949 | USH2A | c.12417T= (p.Gly4139=)
| |
| 1 | g.215675494A>C | CA423311653 | USH2A | c.12417T>G (p.Gly4139=)
| |
| 1 | g.215675494A>G | CA423311655 | USH2A | c.12417T>C (p.Gly4139=)
| ClinVar |
| 1 | g.215675494A>T | CA423311657 | USH2A | c.12417T>A (p.Gly4139=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675495C>A | CA344850974 | USH2A | c.12416G>T (p.Gly4139Val)
| ClinVar dbSNP |
| 1 | g.215675495C= | CA1220373950 | USH2A | c.12416G= (p.Gly4139=)
| |
| 1 | g.215675495C>G | CA344850975 | USH2A | c.12416G>C (p.Gly4139Ala)
| |
| 1 | g.215675495C>T | CA344850977 | USH2A | c.12416G>A (p.Gly4139Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675496del | CA2740090320 | USH2A | c.12416del (p.Gly4139ValfsTer28)
| ClinVar |
| 1 | g.215675496C>A | CA344850978 | USH2A | c.12415G>T (p.Gly4139Cys)
| |
| 1 | g.215675496C= | CA1141644844 | USH2A | c.12415G= (p.Gly4139=)
| |
| 1 | g.215675496C>G | CA16603530 | USH2A | c.12415G>C (p.Gly4139Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675496C>T | CA344850980 | USH2A | c.12415G>A (p.Gly4139Ser)
| ClinVar |
| 1 | g.215675497T>A | CA423311662 | USH2A | c.12414A>T (p.Ala4138=)
| |
| 1 | g.215675497T>C | CA423311664 | USH2A | c.12414A>G (p.Ala4138=)
| |
| 1 | g.215675497T>G | CA423311666 | USH2A | c.12414A>C (p.Ala4138=)
| |
| 1 | g.215675498G>A | CA344850984 | USH2A | c.12413C>T (p.Ala4138Val)
| gnomAD v4 |
| 1 | g.215675498G>C | CA344850982 | USH2A | c.12413C>G (p.Ala4138Gly)
| |
| 1 | g.215675498G>T | CA344850983 | USH2A | c.12413C>A (p.Ala4138Glu)
| |
| 1 | g.215675499C>A | CA344850986 | USH2A | c.12412G>T (p.Ala4138Ser)
| |
| 1 | g.215675499C= | CA1220373951 | USH2A | c.12412G= (p.Ala4138=)
| |
| 1 | g.215675499C>G | CA344850988 | USH2A | c.12412G>C (p.Ala4138Pro)
| |
| 1 | g.215675499C>T | CA344850990 | USH2A | c.12412G>A (p.Ala4138Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675500T>A | CA344850991 | USH2A | c.12411A>T (p.Arg4137Ser)
| |
| 1 | g.215675500T>C | CA423311670 | USH2A | c.12411A>G (p.Arg4137=)
| gnomAD v4 |
| 1 | g.215675500T>G | CA344850992 | USH2A | c.12411A>C (p.Arg4137Ser)
| |
| 1 | g.215675501C>A | CA344850994 | USH2A | c.12410G>T (p.Arg4137Ile)
| |
| 1 | g.215675501C>G | CA344850997 | USH2A | c.12410G>C (p.Arg4137Thr)
| gnomAD v4 |
| 1 | g.215675501C>T | CA344850996 | USH2A | c.12410G>A (p.Arg4137Lys)
| gnomAD v4 |
| 1 | g.215675501_215675502delinsCT | CA1220373952 | USH2A | c.12409_12410delinsAG (p.Arg4137=)
| |
| 1 | g.215675502del | CA916082114 | USH2A | c.12409del (p.Arg4137GlufsTer30)
| ClinVar dbSNP |
| 1 | g.215675502T>A | CA344850999 | USH2A | c.12409A>T (p.Arg4137Ter)
| |
| 1 | g.215675502T>C | CA344851000 | USH2A | c.12409A>G (p.Arg4137Gly)
| ClinVar |
| 1 | g.215675502T>G | CA423311674 | USH2A | c.12409A>C (p.Arg4137=)
| ClinVar gnomAD v4 |
| 1 | g.215675503G>A | CA1393470 | USH2A | c.12408C>T (p.Thr4136=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675503G>C | CA423311677 | USH2A | c.12408C>G (p.Thr4136=)
| |
| 1 | g.215675503G= | CA1220373953 | USH2A | c.12408C= (p.Thr4136=)
| |
| 1 | g.215675503G>T | CA423311679 | USH2A | c.12408C>A (p.Thr4136=)
| dbSNP |
| 1 | g.215675504G>A | CA344851002 | USH2A | c.12407C>T (p.Thr4136Ile)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675504G>C | CA344851004 | USH2A | c.12407C>G (p.Thr4136Ser)
| |
| 1 | g.215675504G= | CA1220373954 | USH2A | c.12407C= (p.Thr4136=)
| |
| 1 | g.215675504G>T | CA344851005 | USH2A | c.12407C>A (p.Thr4136Asn)
| |
| 1 | g.215675505T>A | CA344851007 | USH2A | c.12406A>T (p.Thr4136Ser)
| |
| 1 | g.215675505T>C | CA344851009 | USH2A | c.12406A>G (p.Thr4136Ala)
| |
| 1 | g.215675505T>G | CA344851010 | USH2A | c.12406A>C (p.Thr4136Pro)
| dbSNP |
| 1 | g.215675505T= | CA1220373955 | USH2A | c.12406A= (p.Thr4136=)
| |
| 1 | g.215675506G>A | CA423311686 | USH2A | c.12405C>T (p.Cys4135=)
| |
| 1 | g.215675506G>C | CA344851011 | USH2A | c.12405C>G (p.Cys4135Trp)
| |
| 1 | g.215675506G>T | CA344851012 | USH2A | c.12405C>A (p.Cys4135Ter)
| |
