| 1 | g.215680144A= | CA1220376181 | USH2A | c.12294+5T= (n.12294+5T=)
| |
| 1 | g.215680144A>G | CA1220376183 | USH2A | c.12294+5T>C (n.12294+5T>C)
| dbSNP |
| 1 | g.215680146T>C | CA2586968197 | USH2A | c.12294+3A>G (n.12294+3A>G)
| |
| 1 | g.215680147A>C | CA344815720 | USH2A | c.12294+2T>G (n.12294+2T>G)
| |
| 1 | g.215680147A>G | CA344815722 | USH2A | c.12294+2T>C (n.12294+2T>C)
| ClinVar dbSNP |
| 1 | g.215680147A>T | CA344815724 | USH2A | c.12294+2T>A (n.12294+2T>A)
| |
| 1 | g.215680148C>A | CA344815728 | USH2A | c.12294+1G>T (n.12294+1G>T)
| |
| 1 | g.215680148C= | CA1141189266 | USH2A | c.12294+1G= (n.12294+1G=)
| |
| 1 | g.215680148C>G | CA262077 | USH2A | c.12294+1G>C (n.12294+1G>C)
| ClinVar dbSNP |
| 1 | g.215680148C>T | CA344815727 | USH2A | c.12294+1G>A (n.12294+1G>A)
| dbSNP |
| 1 | g.215680149C>A | CA344815730 | USH2A | c.12294G>T (p.Lys4098Asn)
| |
| 1 | g.215680149C>G | CA344815732 | USH2A | c.12294G>C (p.Lys4098Asn)
| |
| 1 | g.215680149C>T | CA423429559 | USH2A | c.12294G>A (p.Lys4098=)
| ClinVar |
| 1 | g.215680150T>A | CA344815734 | USH2A | c.12293A>T (p.Lys4098Met)
| |
| 1 | g.215680150T>C | CA344815736 | USH2A | c.12293A>G (p.Lys4098Arg)
| |
| 1 | g.215680150T>G | CA344815738 | USH2A | c.12293A>C (p.Lys4098Thr)
| |
| 1 | g.215680151T>A | CA37357977 | USH2A | c.12292A>T (p.Lys4098Ter)
| dbSNP gnomAD v4 |
| 1 | g.215680151T>C | CA344815742 | USH2A | c.12292A>G (p.Lys4098Glu)
| COSMIC COSMIC |
| 1 | g.215680151T>G | CA344815740 | USH2A | c.12292A>C (p.Lys4098Gln)
| |
| 1 | g.215680151T= | CA1220376190 | USH2A | c.12292A= (p.Lys4098=)
| |
| 1 | g.215680152A>C | CA344815744 | USH2A | c.12291T>G (p.Ile4097Met)
| gnomAD v4 |
| 1 | g.215680152A>G | CA423429567 | USH2A | c.12291T>C (p.Ile4097=)
| |
| 1 | g.215680152A>T | CA423429568 | USH2A | c.12291T>A (p.Ile4097=)
| |
| 1 | g.215680153A= | CA1220376191 | USH2A | c.12290T= (p.Ile4097=)
| |
| 1 | g.215680153A>C | CA344815747 | USH2A | c.12290T>G (p.Ile4097Ser)
| |
| 1 | g.215680153A>G | CA344815749 | USH2A | c.12290T>C (p.Ile4097Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680153A>T | CA344815750 | USH2A | c.12290T>A (p.Ile4097Asn)
| |
| 1 | g.215680154T>A | CA344815753 | USH2A | c.12289A>T (p.Ile4097Phe)
| |
| 1 | g.215680154T>C | CA344815755 | USH2A | c.12289A>G (p.Ile4097Val)
| ClinVar |
| 1 | g.215680154T>G | CA344815757 | USH2A | c.12289A>C (p.Ile4097Leu)
| |
| 1 | g.215680155C>A | CA423429572 | USH2A | c.12288G>T (p.Val4096=)
| ClinVar gnomAD v4 |
| 1 | g.215680155C>G | CA423429574 | USH2A | c.12288G>C (p.Val4096=)
| |
| 1 | g.215680155C>T | CA423429579 | USH2A | c.12288G>A (p.Val4096=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215680156A>C | CA344815759 | USH2A | c.12287T>G (p.Val4096Gly)
| |
| 1 | g.215680156A>G | CA344815760 | USH2A | c.12287T>C (p.Val4096Ala)
| |
| 1 | g.215680156A>T | CA344815762 | USH2A | c.12287T>A (p.Val4096Glu)
| |
| 1 | g.215680157C>A | CA344815768 | USH2A | c.12286G>T (p.Val4096Leu)
| gnomAD v4 |
| 1 | g.215680157C>G | CA344815766 | USH2A | c.12286G>C (p.Val4096Leu)
| |
| 1 | g.215680157C>T | CA344815764 | USH2A | c.12286G>A (p.Val4096Met)
| |
| 1 | g.215680158A= | CA1147958837 | USH2A | c.12285T= (p.Gly4095=)
| |
| 1 | g.215680158A>C | CA1393507 | USH2A | c.12285T>G (p.Gly4095=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215680158A>G | CA37357986 | USH2A | c.12285T>C (p.Gly4095=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680158A>T | CA423429588 | USH2A | c.12285T>A (p.Gly4095=)
| |
| 1 | g.215680159C>A | CA344815772 | USH2A | c.12284G>T (p.Gly4095Val)
| |
| 1 | g.215680159C= | CA1220376195 | USH2A | c.12284G= (p.Gly4095=)
| |
| 1 | g.215680159C>G | CA344815774 | USH2A | c.12284G>C (p.Gly4095Ala)
| |
| 1 | g.215680159C>T | CA1393508 | USH2A | c.12284G>A (p.Gly4095Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680160del | CA2586968198 | USH2A | c.12284del (p.Gly4095ValfsTer2)
| |
| 1 | g.215680160C>A | CA344815777 | USH2A | c.12283G>T (p.Gly4095Cys)
| dbSNP |
| 1 | g.215680160C= | CA1220376198 | USH2A | c.12283G= (p.Gly4095=)
| |
| 1 | g.215680160C>G | CA344815778 | USH2A | c.12283G>C (p.Gly4095Arg)
| |
| 1 | g.215680160C>T | CA344815779 | USH2A | c.12283G>A (p.Gly4095Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680161A>C | CA344815782 | USH2A | c.12282T>G (p.Asn4094Lys)
| |
| 1 | g.215680161A>G | CA423429593 | USH2A | c.12282T>C (p.Asn4094=)
| |
| 1 | g.215680161A>T | CA344815784 | USH2A | c.12282T>A (p.Asn4094Lys)
| ClinVar |
| 1 | g.215680162T>A | CA344815786 | USH2A | c.12281A>T (p.Asn4094Ile)
| |
| 1 | g.215680162T>C | CA344815788 | USH2A | c.12281A>G (p.Asn4094Ser)
| gnomAD v4 |
| 1 | g.215680162T>G | CA344815790 | USH2A | c.12281A>C (p.Asn4094Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680162T= | CA1220376200 | USH2A | c.12281A= (p.Asn4094=)
| |
| 1 | g.215680163T>A | CA344815795 | USH2A | c.12280A>T (p.Asn4094Tyr)
| |
| 1 | g.215680163T>C | CA1393509 | USH2A | c.12280A>G (p.Asn4094Asp)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215680163T>G | CA344815793 | USH2A | c.12280A>C (p.Asn4094His)
| |
| 1 | g.215680163T= | CA1220376203 | USH2A | c.12280A= (p.Asn4094=)
| |
| 1 | g.215680164G>A | CA423429603 | USH2A | c.12279C>T (p.Thr4093=)
| |
| 1 | g.215680164G>C | CA423429604 | USH2A | c.12279C>G (p.Thr4093=)
| gnomAD v4 |
| 1 | g.215680164G= | CA1220376205 | USH2A | c.12279C= (p.Thr4093=)
| |
| 1 | g.215680164G>T | CA1393510 | USH2A | c.12279C>A (p.Thr4093=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680164_215680168delinsACCTTAATCACATCACA | CA2586968199 | USH2A | c.12275_12279delinsTGTGATGTGATTAAGGT (p.Arg4092MetfsTer2)
| |
| 1 | g.215680165G>A | CA1393511 | USH2A | c.12278C>T (p.Thr4093Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680165G>C | CA344815798 | USH2A | c.12278C>G (p.Thr4093Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680165G= | CA1220376208 | USH2A | c.12278C= (p.Thr4093=)
| |
| 1 | g.215680165G>T | CA344815799 | USH2A | c.12278C>A (p.Thr4093Asn)
| |
| 1 | g.215680166T>A | CA344815801 | USH2A | c.12277A>T (p.Thr4093Ser)
| dbSNP |
| 1 | g.215680166T>C | CA344815803 | USH2A | c.12277A>G (p.Thr4093Ala)
| |
| 1 | g.215680166T>G | CA344815804 | USH2A | c.12277A>C (p.Thr4093Pro)
| |
| 1 | g.215680166T= | CA1220376211 | USH2A | c.12277A= (p.Thr4093=)
| |
| 1 | g.215680167T>A | CA344815806 | USH2A | c.12276A>T (p.Arg4092Ser)
| |
| 1 | g.215680167T>C | CA423429631 | USH2A | c.12276A>G (p.Arg4092=)
| gnomAD v4 |
| 1 | g.215680167T>G | CA344815808 | USH2A | c.12276A>C (p.Arg4092Ser)
| |
| 1 | g.215680168C>A | CA344815810 | USH2A | c.12275G>T (p.Arg4092Ile)
| COSMIC COSMIC |
| 1 | g.215680168C= | CA1148224966 | USH2A | c.12275G= (p.Arg4092=)
| |
| 1 | g.215680168C>G | CA344815812 | USH2A | c.12275G>C (p.Arg4092Thr)
| |
| 1 | g.215680168C>T | CA185267 | USH2A | c.12275G>A (p.Arg4092Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680168_215680169delinsCT | CA1220376214 | USH2A | c.12274_12275delinsAG (p.Arg4092=)
| |
| 1 | g.215680169del | CA529002155 | USH2A | c.12274del (p.Arg4092GlufsTer5)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680169T>A | CA344815815 | USH2A | c.12274A>T (p.Arg4092Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680169T>C | CA344815816 | USH2A | c.12274A>G (p.Arg4092Gly)
| |
| 1 | g.215680169T>G | CA423429648 | USH2A | c.12274A>C (p.Arg4092=)
| |
| 1 | g.215680169T= | CA1220376222 | USH2A | c.12274A= (p.Arg4092=)
| |
| 1 | g.215680170C>A | CA344815819 | USH2A | c.12273G>T (p.Met4091Ile)
| |
| 1 | g.215680170C= | CA1220376229 | USH2A | c.12273G= (p.Met4091=)
| |
| 1 | g.215680170C>G | CA344815821 | USH2A | c.12273G>C (p.Met4091Ile)
| COSMIC COSMIC |
| 1 | g.215680170C>T | CA1393512 | USH2A | c.12273G>A (p.Met4091Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680171A>C | CA344815824 | USH2A | c.12272T>G (p.Met4091Arg)
| |
| 1 | g.215680171A>G | CA344815825 | USH2A | c.12272T>C (p.Met4091Thr)
| |
| 1 | g.215680171A>T | CA344815826 | USH2A | c.12272T>A (p.Met4091Lys)
| gnomAD v4 |
| 1 | g.215680172T>A | CA1393513 | USH2A | c.12271A>T (p.Met4091Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680172T>C | CA344815829 | USH2A | c.12271A>G (p.Met4091Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680172T>G | CA344815831 | USH2A | c.12271A>C (p.Met4091Leu)
| |
| 1 | g.215680172T= | CA1141975418 | USH2A | c.12271A= (p.Met4091=)
| |
| 1 | g.215680173A>C | CA423429681 | USH2A | c.12270T>G (p.Pro4090=)
| |
| 1 | g.215680173A>G | CA423429683 | USH2A | c.12270T>C (p.Pro4090=)
| ClinVar gnomAD v3 gnomAD v4 |
| 1 | g.215680173A>T | CA423429686 | USH2A | c.12270T>A (p.Pro4090=)
| |
| 1 | g.215680174G>A | CA344815836 | USH2A | c.12269C>T (p.Pro4090Leu)
| ClinVar gnomAD v4 |
| 1 | g.215680174G>C | CA344815833 | USH2A | c.12269C>G (p.Pro4090Arg)
| ClinVar dbSNP |
| 1 | g.215680174G= | CA1220376238 | USH2A | c.12269C= (p.Pro4090=)
| |
| 1 | g.215680174G>T | CA344815835 | USH2A | c.12269C>A (p.Pro4090His)
| |
| 1 | g.215680175G>A | CA344815837 | USH2A | c.12268C>T (p.Pro4090Ser)
| dbSNP |
| 1 | g.215680175G>C | CA344815838 | USH2A | c.12268C>G (p.Pro4090Ala)
| gnomAD v4 |
| 1 | g.215680175G= | CA1220376242 | USH2A | c.12268C= (p.Pro4090=)
| |
| 1 | g.215680175G>T | CA1393514 | USH2A | c.12268C>A (p.Pro4090Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680176T>A | CA344815839 | USH2A | c.12267A>T (p.Glu4089Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215680176T>C | CA423429695 | USH2A | c.12267A>G (p.Glu4089=)
| dbSNP gnomAD v4 |
| 1 | g.215680176T>G | CA344815840 | USH2A | c.12267A>C (p.Glu4089Asp)
| |
| 1 | g.215680176T= | CA1220376246 | USH2A | c.12267A= (p.Glu4089=)
| |
| 1 | g.215680177T>A | CA344815843 | USH2A | c.12266A>T (p.Glu4089Val)
| ClinVar gnomAD v4 |
| 1 | g.215680177T>C | CA344815841 | USH2A | c.12266A>G (p.Glu4089Gly)
| |
| 1 | g.215680177T>G | CA344815842 | USH2A | c.12266A>C (p.Glu4089Ala)
| |
| 1 | g.215680178C>A | CA344815844 | USH2A | c.12265G>T (p.Glu4089Ter)
| |
| 1 | g.215680178C= | CA1220376248 | USH2A | c.12265G= (p.Glu4089=)
| |
| 1 | g.215680178C>G | CA344815845 | USH2A | c.12265G>C (p.Glu4089Gln)
| |
| 1 | g.215680178C>T | CA344815846 | USH2A | c.12265G>A (p.Glu4089Lys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215680179T>A | CA423429705 | USH2A | c.12264A>T (p.Ser4088=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680179T>C | CA423429706 | USH2A | c.12264A>G (p.Ser4088=)
| |
| 1 | g.215680179T>G | CA423429707 | USH2A | c.12264A>C (p.Ser4088=)
| |
| 1 | g.215680179T= | CA1220376250 | USH2A | c.12264A= (p.Ser4088=)
| |
| 1 | g.215680180G>A | CA344815847 | USH2A | c.12263C>T (p.Ser4088Leu)
| |
| 1 | g.215680180G>C | CA344815848 | USH2A | c.12263C>G (p.Ser4088Ter)
| |
| 1 | g.215680180G>T | CA344815849 | USH2A | c.12263C>A (p.Ser4088Ter)
| |
| 1 | g.215680181A>C | CA344815850 | USH2A | c.12262T>G (p.Ser4088Ala)
| |
| 1 | g.215680181A>G | CA344815851 | USH2A | c.12262T>C (p.Ser4088Pro)
| |
| 1 | g.215680181A>T | CA344815852 | USH2A | c.12262T>A (p.Ser4088Thr)
| |
| 1 | g.215680182C>A | CA344815853 | USH2A | c.12261G>T (p.Trp4087Cys)
| |
| 1 | g.215680182C>G | CA344815854 | USH2A | c.12261G>C (p.Trp4087Cys)
| ClinVar |
| 1 | g.215680182C>T | CA344815855 | USH2A | c.12261G>A (p.Trp4087Ter)
| gnomAD v4 |
| 1 | g.215680183C>A | CA344815857 | USH2A | c.12260G>T (p.Trp4087Leu)
| dbSNP |
| 1 | g.215680183C= | CA1220376256 | USH2A | c.12260G= (p.Trp4087=)
| |
| 1 | g.215680183C>G | CA344815861 | USH2A | c.12260G>C (p.Trp4087Ser)
| |
| 1 | g.215680183C>T | CA344815859 | USH2A | c.12260G>A (p.Trp4087Ter)
| dbSNP |
| 1 | g.215680184A= | CA1220376260 | USH2A | c.12259T= (p.Trp4087=)
| |
| 1 | g.215680184A>C | CA344815862 | USH2A | c.12259T>G (p.Trp4087Gly)
| |
| 1 | g.215680184A>G | CA344815864 | USH2A | c.12259T>C (p.Trp4087Arg)
| |
| 1 | g.215680184A>T | CA344815866 | USH2A | c.12259T>A (p.Trp4087Arg)
| dbSNP |
| 1 | g.215680185C>A | CA344815867 | USH2A | c.12258G>T (p.Gln4086His)
| |
| 1 | g.215680185C>G | CA344815869 | USH2A | c.12258G>C (p.Gln4086His)
| |
| 1 | g.215680185C>T | CA423429725 | USH2A | c.12258G>A (p.Gln4086=)
| gnomAD v4 |
| 1 | g.215680186T>A | CA344815871 | USH2A | c.12257A>T (p.Gln4086Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680186T>C | CA344815873 | USH2A | c.12257A>G (p.Gln4086Arg)
| |
| 1 | g.215680186T>G | CA344815874 | USH2A | c.12257A>C (p.Gln4086Pro)
| |
| 1 | g.215680186T= | CA1220376263 | USH2A | c.12257A= (p.Gln4086=)
| |
| 1 | g.215680187G>A | CA344815875 | USH2A | c.12256C>T (p.Gln4086Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680187G>C | CA344815877 | USH2A | c.12256C>G (p.Gln4086Glu)
| |
| 1 | g.215680187G= | CA1220376266 | USH2A | c.12256C= (p.Gln4086=)
| |
| 1 | g.215680187G>T | CA344815878 | USH2A | c.12256C>A (p.Gln4086Lys)
| |
| 1 | g.215680188T>A | CA423429738 | USH2A | c.12255A>T (p.Leu4085=)
| |
| 1 | g.215680188T>C | CA423429737 | USH2A | c.12255A>G (p.Leu4085=)
| ClinVar gnomAD v4 |
| 1 | g.215680188T>G | CA423429736 | USH2A | c.12255A>C (p.Leu4085=)
| |
| 1 | g.215680189A>C | CA344815884 | USH2A | c.12254T>G (p.Leu4085Arg)
| |
| 1 | g.215680189A>G | CA344815883 | USH2A | c.12254T>C (p.Leu4085Pro)
| |
| 1 | g.215680189A>T | CA344815881 | USH2A | c.12254T>A (p.Leu4085Gln)
| |
| 1 | g.215680190G>A | CA423429745 | USH2A | c.12253C>T (p.Leu4085=)
| ClinVar |
| 1 | g.215680190G>C | CA344815886 | USH2A | c.12253C>G (p.Leu4085Val)
| |
| 1 | g.215680190G= | CA1148255736 | USH2A | c.12253C= (p.Leu4085=)
| |
| 1 | g.215680190G>T | CA1393515 | USH2A | c.12253C>A (p.Leu4085Ile)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215680190dup | CA2739275679 | USH2A | c.12253dup (p.Leu4085ProfsTer14)
| ClinVar |
| 1 | g.215680190_215680191delinsGT | CA1220376272 | USH2A | c.12252_12253delinsAC (p.Leu4084=)
| |
| 1 | g.215680191del | CA916082118 | USH2A | c.12252del (p.Leu4085TyrfsTer7)
| ClinVar dbSNP |
| 1 | g.215680191T>A | CA423429751 | USH2A | c.12252A>T (p.Leu4084=)
| ClinVar gnomAD v4 |
| 1 | g.215680191T>C | CA423429748 | USH2A | c.12252A>G (p.Leu4084=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680191T>G | CA1393516 | USH2A | c.12252A>C (p.Leu4084=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680191T= | CA1220376278 | USH2A | c.12252A= (p.Leu4084=)
| |
| 1 | g.215680192A>C | CA344815890 | USH2A | c.12251T>G (p.Leu4084Arg)
| |
| 1 | g.215680192A>G | CA344815892 | USH2A | c.12251T>C (p.Leu4084Pro)
| |
| 1 | g.215680192A>T | CA344815894 | USH2A | c.12251T>A (p.Leu4084Gln)
| |
| 1 | g.215680193G>A | CA423429754 | USH2A | c.12250C>T (p.Leu4084=)
| |
| 1 | g.215680193G>C | CA344815896 | USH2A | c.12250C>G (p.Leu4084Val)
| |
| 1 | g.215680193G>T | CA344815897 | USH2A | c.12250C>A (p.Leu4084Ile)
| |
| 1 | g.215680194C>A | CA344815899 | USH2A | c.12249G>T (p.Leu4083Phe)
| |
| 1 | g.215680194C= | CA1220376283 | USH2A | c.12249G= (p.Leu4083=)
| |
| 1 | g.215680194C>G | CA344815901 | USH2A | c.12249G>C (p.Leu4083Phe)
| dbSNP gnomAD v2 |
| 1 | g.215680194C>T | CA423429758 | USH2A | c.12249G>A (p.Leu4083=)
| gnomAD v4 |
| 1 | g.215680195A>C | CA344815903 | USH2A | c.12248T>G (p.Leu4083Trp)
| |
| 1 | g.215680195A>G | CA344815905 | USH2A | c.12248T>C (p.Leu4083Ser)
| gnomAD v4 |
| 1 | g.215680195A>T | CA344815907 | USH2A | c.12248T>A (p.Leu4083Ter)
| |
| 1 | g.215680196A= | CA1220376285 | USH2A | c.12247T= (p.Leu4083=)
| |
| 1 | g.215680196A>C | CA344815911 | USH2A | c.12247T>G (p.Leu4083Val)
| |
| 1 | g.215680196A>G | CA423429764 | USH2A | c.12247T>C (p.Leu4083=)
| gnomAD v4 |
| 1 | g.215680196A>T | CA344815909 | USH2A | c.12247T>A (p.Leu4083Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680197T>A | CA423429770 | USH2A | c.12246A>T (p.Ala4082=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680197T>C | CA423429771 | USH2A | c.12246A>G (p.Ala4082=)
| ClinVar dbSNP |
| 1 | g.215680197T>G | CA423429772 | USH2A | c.12246A>C (p.Ala4082=)
| |
| 1 | g.215680197T= | CA1220376288 | USH2A | c.12246A= (p.Ala4082=)
| |
| 1 | g.215680198G>A | CA344815912 | USH2A | c.12245C>T (p.Ala4082Val)
| |
| 1 | g.215680198G>C | CA344815913 | USH2A | c.12245C>G (p.Ala4082Gly)
| |
| 1 | g.215680198G>T | CA344815914 | USH2A | c.12245C>A (p.Ala4082Glu)
| |
| 1 | g.215680199C>A | CA344815916 | USH2A | c.12244G>T (p.Ala4082Ser)
| dbSNP gnomAD v4 |
| 1 | g.215680199C= | CA1220376290 | USH2A | c.12244G= (p.Ala4082=)
| |
| 1 | g.215680199C>G | CA344815918 | USH2A | c.12244G>C (p.Ala4082Pro)
| |
| 1 | g.215680199C>T | CA37358020 | USH2A | c.12244G>A (p.Ala4082Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680200C>A | CA423429782 | USH2A | c.12243G>T (p.Arg4081=)
| |
| 1 | g.215680200C= | CA1220376293 | USH2A | c.12243G= (p.Arg4081=)
| |
| 1 | g.215680200C>G | CA423429786 | USH2A | c.12243G>C (p.Arg4081=)
| |
| 1 | g.215680200C>T | CA423429784 | USH2A | c.12243G>A (p.Arg4081=)
| gnomAD v4 |
| 1 | g.215680201C>A | CA344815921 | USH2A | c.12242G>T (p.Arg4081Leu)
| |
| 1 | g.215680201C= | CA1145348993 | USH2A | c.12242G= (p.Arg4081=)
| |
| 1 | g.215680201C>G | CA344815923 | USH2A | c.12242G>C (p.Arg4081Pro)
| gnomAD v4 |
| 1 | g.215680201C>T | CA1393517 | USH2A | c.12242G>A (p.Arg4081Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680202_215680204dup | CA731340771 | USH2A | c.12240_12242dup (p.Arg4081_Ala4082insArg)
| dbSNP |
| 1 | g.215680202G>A | CA1393518 | USH2A | c.12241C>T (p.Arg4081Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680202G>C | CA344815927 | USH2A | c.12241C>G (p.Arg4081Gly)
| gnomAD v4 |
| 1 | g.215680202G= | CA1142012906 | USH2A | c.12241C= (p.Arg4081=)
| |
| 1 | g.215680202G>T | CA37358028 | USH2A | c.12241C>A (p.Arg4081=)
| ClinVar dbSNP |
| 1 | g.215680203G>A | CA423429792 | USH2A | c.12240C>T (p.Gly4080=)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215680203G>C | CA423429793 | USH2A | c.12240C>G (p.Gly4080=)
| |
| 1 | g.215680203G>T | CA423429794 | USH2A | c.12240C>A (p.Gly4080=)
| gnomAD v4 |
| 1 | g.215680204C>A | CA344815929 | USH2A | c.12239G>T (p.Gly4080Val)
| gnomAD v4 |
| 1 | g.215680204C>G | CA344815931 | USH2A | c.12239G>C (p.Gly4080Ala)
| |
| 1 | g.215680204C>T | CA344815933 | USH2A | c.12239G>A (p.Gly4080Asp)
| gnomAD v4 |
| 1 | g.215680205C>A | CA344815938 | USH2A | c.12238G>T (p.Gly4080Cys)
| |
| 1 | g.215680205C>G | CA344815936 | USH2A | c.12238G>C (p.Gly4080Arg)
| |
| 1 | g.215680205C>T | CA344815935 | USH2A | c.12238G>A (p.Gly4080Ser)
| |
| 1 | g.215680206A= | CA1220376301 | USH2A | c.12237T= (p.Asn4079=)
| |
| 1 | g.215680206A>C | CA344815940 | USH2A | c.12237T>G (p.Asn4079Lys)
| |
| 1 | g.215680206A>G | CA423429801 | USH2A | c.12237T>C (p.Asn4079=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215680206A>T | CA344815941 | USH2A | c.12237T>A (p.Asn4079Lys)
| dbSNP gnomAD v4 |
| 1 | g.215680207T>A | CA344815944 | USH2A | c.12236A>T (p.Asn4079Ile)
| COSMIC COSMIC |
| 1 | g.215680207T>C | CA344815945 | USH2A | c.12236A>G (p.Asn4079Ser)
| gnomAD v4 |
| 1 | g.215680207T>G | CA344815947 | USH2A | c.12236A>C (p.Asn4079Thr)
| |
| 1 | g.215680207_215680209delinsTTC | CA1220376305 | USH2A | c.12234_12236delinsGAA (p.Glu4078=)
| |
| 1 | g.215680208T>A | CA344815950 | USH2A | c.12235A>T (p.Asn4079Tyr)
| |
| 1 | g.215680208T>C | CA344815951 | USH2A | c.12235A>G (p.Asn4079Asp)
| |
| 1 | g.215680208T>G | CA344815953 | USH2A | c.12235A>C (p.Asn4079His)
| |
| 1 | g.215680208_215680212delinsTCTCT | CA1144233403 | USH2A | c.12231_12235delinsAGAGA (p.Lys4077=)
| |
| 1 | g.215680211_215680212del | CA224397 | USH2A | c.12234_12235del (p.Asn4079TrpfsTer19)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680209C>A | CA344815955 | USH2A | c.12234G>T (p.Glu4078Asp)
| |
| 1 | g.215680209C>G | CA344815957 | USH2A | c.12234G>C (p.Glu4078Asp)
| |
| 1 | g.215680209C>T | CA423429807 | USH2A | c.12234G>A (p.Glu4078=)
| |
| 1 | g.215680210T>A | CA344815959 | USH2A | c.12233A>T (p.Glu4078Val)
| |
| 1 | g.215680210T>C | CA344815961 | USH2A | c.12233A>G (p.Glu4078Gly)
| gnomAD v4 |
| 1 | g.215680210T>G | CA344815963 | USH2A | c.12233A>C (p.Glu4078Ala)
| |
| 1 | g.215680211C>A | CA37358034 | USH2A | c.12232G>T (p.Glu4078Ter)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215680211C= | CA1220376311 | USH2A | c.12232G= (p.Glu4078=)
| |
| 1 | g.215680211C>G | CA344815968 | USH2A | c.12232G>C (p.Glu4078Gln)
| |
| 1 | g.215680211C>T | CA344815965 | USH2A | c.12232G>A (p.Glu4078Lys)
| |
| 1 | g.215680212T>A | CA344815970 | USH2A | c.12231A>T (p.Lys4077Asn)
| |
| 1 | g.215680212T>C | CA423429811 | USH2A | c.12231A>G (p.Lys4077=)
| |
| 1 | g.215680212T>G | CA344815971 | USH2A | c.12231A>C (p.Lys4077Asn)
| |
| 1 | g.215680213T>A | CA344815973 | USH2A | c.12230A>T (p.Lys4077Ile)
| |
| 1 | g.215680213T>C | CA344815975 | USH2A | c.12230A>G (p.Lys4077Arg)
| |
| 1 | g.215680213T>G | CA344815977 | USH2A | c.12230A>C (p.Lys4077Thr)
| |
| 1 | g.215680214T>A | CA344815982 | USH2A | c.12229A>T (p.Lys4077Ter)
| |
| 1 | g.215680214T>C | CA344815980 | USH2A | c.12229A>G (p.Lys4077Glu)
| |
| 1 | g.215680214T>G | CA344815979 | USH2A | c.12229A>C (p.Lys4077Gln)
| |
| 1 | g.215680215C>A | CA344815984 | USH2A | c.12228G>T (p.Gln4076His)
| |
| 1 | g.215680215C= | CA1220376313 | USH2A | c.12228G= (p.Gln4076=)
| |
| 1 | g.215680215C>G | CA344815985 | USH2A | c.12228G>C (p.Gln4076His)
| |
| 1 | g.215680215C>T | CA1393519 | USH2A | c.12228G>A (p.Gln4076=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680216T>A | CA344815988 | USH2A | c.12227A>T (p.Gln4076Leu)
| |
| 1 | g.215680216T>C | CA344815990 | USH2A | c.12227A>G (p.Gln4076Arg)
| |
| 1 | g.215680216T>G | CA344815992 | USH2A | c.12227A>C (p.Gln4076Pro)
| |
| 1 | g.215680217G>A | CA344815994 | USH2A | c.12226C>T (p.Gln4076Ter)
| ClinVar |
| 1 | g.215680217G>C | CA344815998 | USH2A | c.12226C>G (p.Gln4076Glu)
| gnomAD v4 |
| 1 | g.215680217G>T | CA344815996 | USH2A | c.12226C>A (p.Gln4076Lys)
| gnomAD v4 |
| 1 | g.215680218T>A | CA344816000 | USH2A | c.12225A>T (p.Glu4075Asp)
| |
| 1 | g.215680218T>C | CA423429820 | USH2A | c.12225A>G (p.Glu4075=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215680218T>G | CA344816002 | USH2A | c.12225A>C (p.Glu4075Asp)
| |
| 1 | g.215680219T>A | CA344816004 | USH2A | c.12224A>T (p.Glu4075Val)
| |
| 1 | g.215680219T>C | CA344816006 | USH2A | c.12224A>G (p.Glu4075Gly)
| dbSNP |
| 1 | g.215680219T>G | CA344816007 | USH2A | c.12224A>C (p.Glu4075Ala)
| |
| 1 | g.215680219T= | CA1220376316 | USH2A | c.12224A= (p.Glu4075=)
| |
| 1 | g.215680220C>A | CA344816010 | USH2A | c.12223G>T (p.Glu4075Ter)
| |
| 1 | g.215680220C>G | CA344816011 | USH2A | c.12223G>C (p.Glu4075Gln)
| |
| 1 | g.215680220C>T | CA344816013 | USH2A | c.12223G>A (p.Glu4075Lys)
| gnomAD v4 |
| 1 | g.215680221T>A | CA423429823 | USH2A | c.12222A>T (p.Val4074=)
| COSMIC COSMIC |
| 1 | g.215680221T>C | CA423429824 | USH2A | c.12222A>G (p.Val4074=)
| |
| 1 | g.215680221T>G | CA423429826 | USH2A | c.12222A>C (p.Val4074=)
| |
| 1 | g.215680222A= | CA1220376319 | USH2A | c.12221T= (p.Val4074=)
| |
| 1 | g.215680222A>C | CA344816015 | USH2A | c.12221T>G (p.Val4074Gly)
| |
| 1 | g.215680222A>G | CA344816017 | USH2A | c.12221T>C (p.Val4074Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680222A>T | CA344816019 | USH2A | c.12221T>A (p.Val4074Glu)
| |
| 1 | g.215680223C>A | CA344816022 | USH2A | c.12220G>T (p.Val4074Leu)
| |
| 1 | g.215680223C>G | CA344816025 | USH2A | c.12220G>C (p.Val4074Leu)
| |
| 1 | g.215680223C>T | CA344816023 | USH2A | c.12220G>A (p.Val4074Ile)
| |
| 1 | g.215680224T>A | CA423429834 | USH2A | c.12219A>T (p.Ile4073=)
| |
| 1 | g.215680224T>C | CA344816027 | USH2A | c.12219A>G (p.Ile4073Met)
| dbSNP gnomAD v4 |
| 1 | g.215680224T>G | CA423429835 | USH2A | c.12219A>C (p.Ile4073=)
| gnomAD v4 |
| 1 | g.215680224T= | CA1220376322 | USH2A | c.12219A= (p.Ile4073=)
| |
| 1 | g.215680225A= | CA1220376325 | USH2A | c.12218T= (p.Ile4073=)
| |
| 1 | g.215680225A>C | CA344816032 | USH2A | c.12218T>G (p.Ile4073Arg)
| |
| 1 | g.215680225A>G | CA344816030 | USH2A | c.12218T>C (p.Ile4073Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215680225A>T | CA344816033 | USH2A | c.12218T>A (p.Ile4073Lys)
| |
| 1 | g.215680226T>A | CA344816036 | USH2A | c.12217A>T (p.Ile4073Leu)
| |
| 1 | g.215680226T>C | CA344816038 | USH2A | c.12217A>G (p.Ile4073Val)
| gnomAD v4 |
| 1 | g.215680226T>G | CA344816040 | USH2A | c.12217A>C (p.Ile4073Leu)
| |
| 1 | g.215680227A>C | CA344816042 | USH2A | c.12216T>G (p.Phe4072Leu)
| |
| 1 | g.215680227A>G | CA423429839 | USH2A | c.12216T>C (p.Phe4072=)
| |
| 1 | g.215680227A>T | CA344816044 | USH2A | c.12216T>A (p.Phe4072Leu)
| |
| 1 | g.215680228A>C | CA344816047 | USH2A | c.12215T>G (p.Phe4072Cys)
| |
| 1 | g.215680228A>G | CA344816048 | USH2A | c.12215T>C (p.Phe4072Ser)
| |
| 1 | g.215680228A>T | CA344816049 | USH2A | c.12215T>A (p.Phe4072Tyr)
| |
| 1 | g.215680229A>C | CA344816050 | USH2A | c.12214T>G (p.Phe4072Val)
| |
| 1 | g.215680229A>G | CA344816052 | USH2A | c.12214T>C (p.Phe4072Leu)
| ClinVar gnomAD v4 |
| 1 | g.215680229A>T | CA344816054 | USH2A | c.12214T>A (p.Phe4072Ile)
| gnomAD v4 |
| 1 | g.215680230G>A | CA423429844 | USH2A | c.12213C>T (p.Asn4071=)
| |
| 1 | g.215680230G>C | CA344816056 | USH2A | c.12213C>G (p.Asn4071Lys)
| |
| 1 | g.215680230G>T | CA344816058 | USH2A | c.12213C>A (p.Asn4071Lys)
| |
| 1 | g.215680231T>A | CA344816060 | USH2A | c.12212A>T (p.Asn4071Ile)
| |
| 1 | g.215680231T>C | CA344816063 | USH2A | c.12212A>G (p.Asn4071Ser)
| |
| 1 | g.215680231T>G | CA344816062 | USH2A | c.12212A>C (p.Asn4071Thr)
| |
| 1 | g.215680232_215680233del | CA2580062353 | USH2A | c.12211_12212del (p.Asn4071LeufsTer27)
| ClinVar |
| 1 | g.215680232T>A | CA344816065 | USH2A | c.12211A>T (p.Asn4071Tyr)
| |
| 1 | g.215680232T>C | CA344816067 | USH2A | c.12211A>G (p.Asn4071Asp)
| |
| 1 | g.215680232T>G | CA344816069 | USH2A | c.12211A>C (p.Asn4071His)
| |
| 1 | g.215680233T>A | CA344816071 | USH2A | c.12210A>T (p.Arg4070Ser)
| |
| 1 | g.215680233T>C | CA423429848 | USH2A | c.12210A>G (p.Arg4070=)
| dbSNP gnomAD v4 |
| 1 | g.215680233T>G | CA344816072 | USH2A | c.12210A>C (p.Arg4070Ser)
| |
| 1 | g.215680233T= | CA1220376328 | USH2A | c.12210A= (p.Arg4070=)
| |
| 1 | g.215680234C>A | CA344816075 | USH2A | c.12209G>T (p.Arg4070Ile)
| |
| 1 | g.215680234C= | CA1220376333 | USH2A | c.12209G= (p.Arg4070=)
| |
| 1 | g.215680234C>G | CA344816077 | USH2A | c.12209G>C (p.Arg4070Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680234C>T | CA1393520 | USH2A | c.12209G>A (p.Arg4070Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680235T>A | CA344816079 | USH2A | c.12208A>T (p.Arg4070Ter)
| |
| 1 | g.215680235T>C | CA344816080 | USH2A | c.12208A>G (p.Arg4070Gly)
| |
| 1 | g.215680235T>G | CA423429850 | USH2A | c.12208A>C (p.Arg4070=)
| |
| 1 | g.215680236C>A | CA423429855 | USH2A | c.12207G>T (p.Leu4069=)
| dbSNP |
| 1 | g.215680236C= | CA1220376336 | USH2A | c.12207G= (p.Leu4069=)
| |
| 1 | g.215680236C>G | CA1393521 | USH2A | c.12207G>C (p.Leu4069=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680236C>T | CA423429854 | USH2A | c.12207G>A (p.Leu4069=)
| |
| 1 | g.215680237A>C | CA344816087 | USH2A | c.12206T>G (p.Leu4069Arg)
| |
| 1 | g.215680237A>G | CA344816083 | USH2A | c.12206T>C (p.Leu4069Pro)
| gnomAD v4 |
| 1 | g.215680237A>T | CA344816085 | USH2A | c.12206T>A (p.Leu4069Gln)
| |
| 1 | g.215680238G>A | CA423429860 | USH2A | c.12205C>T (p.Leu4069=)
| |
| 1 | g.215680238G>C | CA344816089 | USH2A | c.12205C>G (p.Leu4069Val)
| |
| 1 | g.215680238G>T | CA344816091 | USH2A | c.12205C>A (p.Leu4069Met)
| |
| 1 | g.215680239T>A | CA423429861 | USH2A | c.12204A>T (p.Gly4068=)
| |
| 1 | g.215680239T>C | CA423429862 | USH2A | c.12204A>G (p.Gly4068=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215680239T>G | CA423429863 | USH2A | c.12204A>C (p.Gly4068=)
| |
| 1 | g.215680239T= | CA1220376337 | USH2A | c.12204A= (p.Gly4068=)
| |
| 1 | g.215680240C>A | CA1393522 | USH2A | c.12203G>T (p.Gly4068Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680240C= | CA1220376338 | USH2A | c.12203G= (p.Gly4068=)
| |
| 1 | g.215680240C>G | CA344816094 | USH2A | c.12203G>C (p.Gly4068Ala)
| |
| 1 | g.215680240C>T | CA344816096 | USH2A | c.12203G>A (p.Gly4068Glu)
| gnomAD v4 |
| 1 | g.215680241C>A | CA344816098 | USH2A | c.12202G>T (p.Gly4068Ter)
| ClinVar dbSNP COSMIC |
| 1 | g.215680241C= | CA1220376343 | USH2A | c.12202G= (p.Gly4068=)
| |
| 1 | g.215680241C>G | CA344816100 | USH2A | c.12202G>C (p.Gly4068Arg)
| |
| 1 | g.215680241C>T | CA344816102 | USH2A | c.12202G>A (p.Gly4068Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680242A= | CA1220376347 | USH2A | c.12201T= (p.Ser4067=)
| |
| 1 | g.215680242A>C | CA344816105 | USH2A | c.12201T>G (p.Ser4067Arg)
| dbSNP COSMIC COSMIC |
| 1 | g.215680242A>G | CA423429870 | USH2A | c.12201T>C (p.Ser4067=)
| |
| 1 | g.215680242A>T | CA344816109 | USH2A | c.12201T>A (p.Ser4067Arg)
| |
