| 1 | g.215728253_215728368dup | CA2650501610 | USH2A | c.11729_11844dup (p.Gly3949LysfsTer23)
| gnomAD v4 |
| 1 | g.215728342C>A | CA344829644 | USH2A | c.11754G>T (p.Trp3918Cys)
| |
| 1 | g.215728342C= | CA1220396580 | USH2A | c.11754G= (p.Trp3918=)
| |
| 1 | g.215728342C>G | CA344829647 | USH2A | c.11754G>C (p.Trp3918Cys)
| |
| 1 | g.215728342C>T | CA344829667 | USH2A | c.11754G>A (p.Trp3918Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728343C>A | CA344829677 | USH2A | c.11753G>T (p.Trp3918Leu)
| |
| 1 | g.215728343C>G | CA344829679 | USH2A | c.11753G>C (p.Trp3918Ser)
| |
| 1 | g.215728343C>T | CA344829681 | USH2A | c.11753G>A (p.Trp3918Ter)
| |
| 1 | g.215728345_215728348del | CA2586968152 | USH2A | c.11750_11753del (p.Val3917GlyfsTer15)
| |
| 1 | g.215728344A= | CA1220396581 | USH2A | c.11752T= (p.Trp3918=)
| |
| 1 | g.215728344A>C | CA344829682 | USH2A | c.11752T>G (p.Trp3918Gly)
| |
| 1 | g.215728344A>G | CA37395567 | USH2A | c.11752T>C (p.Trp3918Arg)
| dbSNP gnomAD v4 |
| 1 | g.215728344A>T | CA344829683 | USH2A | c.11752T>A (p.Trp3918Arg)
| |
| 1 | g.215728345G>A | CA423430151 | USH2A | c.11751C>T (p.Val3917=)
| |
| 1 | g.215728345G>C | CA423430147 | USH2A | c.11751C>G (p.Val3917=)
| ClinVar gnomAD v4 |
| 1 | g.215728345G>T | CA423430149 | USH2A | c.11751C>A (p.Val3917=)
| |
| 1 | g.215728346A>C | CA344829690 | USH2A | c.11750T>G (p.Val3917Gly)
| |
| 1 | g.215728346A>G | CA344829685 | USH2A | c.11750T>C (p.Val3917Ala)
| |
| 1 | g.215728346A>T | CA344829688 | USH2A | c.11750T>A (p.Val3917Asp)
| |
| 1 | g.215728347C>A | CA1393624 | USH2A | c.11749G>T (p.Val3917Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728347C= | CA1149066208 | USH2A | c.11749G= (p.Val3917=)
| |
| 1 | g.215728347C>G | CA344829700 | USH2A | c.11749G>C (p.Val3917Leu)
| |
| 1 | g.215728347C>T | CA344829701 | USH2A | c.11749G>A (p.Val3917Ile)
| gnomAD v4 |
| 1 | g.215728348A>C | CA344829705 | USH2A | c.11748T>G (p.Phe3916Leu)
| |
| 1 | g.215728348A>G | CA423430156 | USH2A | c.11748T>C (p.Phe3916=)
| |
| 1 | g.215728348A>T | CA344829716 | USH2A | c.11748T>A (p.Phe3916Leu)
| |
| 1 | g.215728351_215728354del | CA2573131560 | USH2A | c.11745_11748del (p.Phe3916SerfsTer16)
| ClinVar dbSNP |
| 1 | g.215728349A>C | CA344829724 | USH2A | c.11747T>G (p.Phe3916Cys)
| |
| 1 | g.215728349A>G | CA344829725 | USH2A | c.11747T>C (p.Phe3916Ser)
| |
| 1 | g.215728349A>T | CA344829729 | USH2A | c.11747T>A (p.Phe3916Tyr)
| |
| 1 | g.215728350A>C | CA344829736 | USH2A | c.11746T>G (p.Phe3916Val)
| |
| 1 | g.215728350A>G | CA344829738 | USH2A | c.11746T>C (p.Phe3916Leu)
| gnomAD v4 |
| 1 | g.215728350A>T | CA344829741 | USH2A | c.11746T>A (p.Phe3916Ile)
| |
| 1 | g.215728351T>A | CA344829748 | USH2A | c.11745A>T (p.Leu3915Phe)
| |
| 1 | g.215728351T>C | CA423430160 | USH2A | c.11745A>G (p.Leu3915=)
| |
| 1 | g.215728351T>G | CA344829747 | USH2A | c.11745A>C (p.Leu3915Phe)
| |
| 1 | g.215728352A>C | CA344829749 | USH2A | c.11744T>G (p.Leu3915Ter)
| |
| 1 | g.215728352A>G | CA344829750 | USH2A | c.11744T>C (p.Leu3915Ser)
| |
| 1 | g.215728352A>T | CA344829751 | USH2A | c.11744T>A (p.Leu3915Ter)
| |
| 1 | g.215728353A= | CA1220396582 | USH2A | c.11743T= (p.Leu3915=)
| |
| 1 | g.215728353A>C | CA344829752 | USH2A | c.11743T>G (p.Leu3915Val)
| |
| 1 | g.215728353A>G | CA423430163 | USH2A | c.11743T>C (p.Leu3915=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728353A>T | CA344829753 | USH2A | c.11743T>A (p.Leu3915Ile)
| |
| 1 | g.215728354A>C | CA423430164 | USH2A | c.11742T>G (p.Val3914=)
| |
| 1 | g.215728354A>G | CA423430165 | USH2A | c.11742T>C (p.Val3914=)
| |
| 1 | g.215728354A>T | CA423430166 | USH2A | c.11742T>A (p.Val3914=)
| |
| 1 | g.215728355A= | CA1220396583 | USH2A | c.11741T= (p.Val3914=)
| |
| 1 | g.215728355A>C | CA344829760 | USH2A | c.11741T>G (p.Val3914Gly)
| |
| 1 | g.215728355A>G | CA344829758 | USH2A | c.11741T>C (p.Val3914Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728355A>T | CA344829755 | USH2A | c.11741T>A (p.Val3914Asp)
| |
| 1 | g.215728356C>A | CA344829764 | USH2A | c.11740G>T (p.Val3914Phe)
| |
| 1 | g.215728356C= | CA1220396584 | USH2A | c.11740G= (p.Val3914=)
| |
| 1 | g.215728356C>G | CA344829766 | USH2A | c.11740G>C (p.Val3914Leu)
| |
| 1 | g.215728356C>T | CA344829769 | USH2A | c.11740G>A (p.Val3914Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728357A>C | CA423430173 | USH2A | c.11739T>G (p.Ser3913=)
| |
| 1 | g.215728357A>G | CA423430174 | USH2A | c.11739T>C (p.Ser3913=)
| |
| 1 | g.215728357A>T | CA423430175 | USH2A | c.11739T>A (p.Ser3913=)
| |
| 1 | g.215728358G>A | CA344829772 | USH2A | c.11738C>T (p.Ser3913Phe)
| |
| 1 | g.215728358G>C | CA344829775 | USH2A | c.11738C>G (p.Ser3913Cys)
| |
| 1 | g.215728358G>T | CA344829778 | USH2A | c.11738C>A (p.Ser3913Tyr)
| ClinVar gnomAD v4 |
| 1 | g.215728359A>C | CA344829779 | USH2A | c.11737T>G (p.Ser3913Ala)
| |
| 1 | g.215728359A>G | CA344829784 | USH2A | c.11737T>C (p.Ser3913Pro)
| |
| 1 | g.215728359A>T | CA344829781 | USH2A | c.11737T>A (p.Ser3913Thr)
| |
| 1 | g.215728360C>A | CA344829786 | USH2A | c.11736G>T (p.Glu3912Asp)
| |
| 1 | g.215728360C= | CA1140631546 | USH2A | c.11736G= (p.Glu3912=)
| |
| 1 | g.215728360C>G | CA344829791 | USH2A | c.11736G>C (p.Glu3912Asp)
| gnomAD v4 |
| 1 | g.215728360C>T | CA143267 | USH2A | c.11736G>A (p.Glu3912=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728361T>A | CA344829795 | USH2A | c.11735A>T (p.Glu3912Val)
| |
| 1 | g.215728361T>C | CA344829798 | USH2A | c.11735A>G (p.Glu3912Gly)
| |
| 1 | g.215728361T>G | CA344829804 | USH2A | c.11735A>C (p.Glu3912Ala)
| |
| 1 | g.215728361T= | CA1220396585 | USH2A | c.11735A= (p.Glu3912=)
| |
| 1 | g.215728361dup | CA913072763 | USH2A | c.11735dup (p.Ser3913ValfsTer12)
| |
| 1 | g.215728362C>A | CA344829808 | USH2A | c.11734G>T (p.Glu3912Ter)
| |
| 1 | g.215728362C= | CA1141878961 | USH2A | c.11734G= (p.Glu3912=)
| |
| 1 | g.215728362C>G | CA344829811 | USH2A | c.11734G>C (p.Glu3912Gln)
| |
| 1 | g.215728362C>T | CA182590 | USH2A | c.11734G>A (p.Glu3912Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728363dup | CA658821851 | USH2A | c.11734dup (p.Glu3912GlyfsTer13)
| ClinVar dbSNP |
| 1 | g.215728363C>A | CA1393625 | USH2A | c.11733G>T (p.Glu3911Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215728363C= | CA1220396586 | USH2A | c.11733G= (p.Glu3911=)
| |
| 1 | g.215728363C>G | CA344829819 | USH2A | c.11733G>C (p.Glu3911Asp)
| |
| 1 | g.215728363C>T | CA423430186 | USH2A | c.11733G>A (p.Glu3911=)
| COSMIC COSMIC |
| 1 | g.215728364T>A | CA344829821 | USH2A | c.11732A>T (p.Glu3911Val)
| |
| 1 | g.215728364T>C | CA344829822 | USH2A | c.11732A>G (p.Glu3911Gly)
| |
| 1 | g.215728364T>G | CA344829820 | USH2A | c.11732A>C (p.Glu3911Ala)
| dbSNP |
| 1 | g.215728364T= | CA1220396587 | USH2A | c.11732A= (p.Glu3911=)
| |
| 1 | g.215728365C>A | CA344829823 | USH2A | c.11731G>T (p.Glu3911Ter)
| gnomAD v4 |
| 1 | g.215728365C= | CA1143421882 | USH2A | c.11731G= (p.Glu3911=)
| |
| 1 | g.215728365C>G | CA37395623 | USH2A | c.11731G>C (p.Glu3911Gln)
| dbSNP gnomAD v4 |
| 1 | g.215728365C>T | CA344829826 | USH2A | c.11731G>A (p.Glu3911Lys)
| COSMIC COSMIC |
| 1 | g.215728366T>A | CA344829829 | USH2A | c.11730A>T (p.Glu3910Asp)
| |
| 1 | g.215728366T>C | CA423430191 | USH2A | c.11730A>G (p.Glu3910=)
| COSMIC COSMIC |
| 1 | g.215728366T>G | CA344829830 | USH2A | c.11730A>C (p.Glu3910Asp)
| |
| 1 | g.215728367del | CA2695199990 | USH2A | c.11730del (p.Glu3911ArgfsTer22)
| ClinVar |
| 1 | g.215728367T>A | CA344829833 | USH2A | c.11729A>T (p.Glu3910Val)
| |
| 1 | g.215728367T>C | CA344829832 | USH2A | c.11729A>G (p.Glu3910Gly)
| |
| 1 | g.215728367T>G | CA344829831 | USH2A | c.11729A>C (p.Glu3910Ala)
| |
| 1 | g.215728368C>A | CA344829834 | USH2A | c.11728G>T (p.Glu3910Ter)
| gnomAD v4 |
| 1 | g.215728368C= | CA1220396588 | USH2A | c.11728G= (p.Glu3910=)
| |
| 1 | g.215728368C>G | CA344829835 | USH2A | c.11728G>C (p.Glu3910Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728368C>T | CA344829836 | USH2A | c.11728G>A (p.Glu3910Lys)
| |
| 1 | g.215728369A>C | CA344829839 | USH2A | c.11727T>G (p.Ile3909Met)
| |
| 1 | g.215728369A>G | CA423430200 | USH2A | c.11727T>C (p.Ile3909=)
| |
| 1 | g.215728369A>T | CA423430201 | USH2A | c.11727T>A (p.Ile3909=)
| |
| 1 | g.215728370A= | CA1220396589 | USH2A | c.11726T= (p.Ile3909=)
| |
| 1 | g.215728370A>C | CA344829841 | USH2A | c.11726T>G (p.Ile3909Ser)
| |
| 1 | g.215728370A>G | CA37395625 | USH2A | c.11726T>C (p.Ile3909Thr)
| dbSNP |
| 1 | g.215728370A>T | CA344829849 | USH2A | c.11726T>A (p.Ile3909Asn)
| |
| 1 | g.215728370_215728372delinsATG | CA1220396590 | USH2A | c.11724_11726delinsCAT (p.Gly3908=)
| |
| 1 | g.215728371T>A | CA344829851 | USH2A | c.11725A>T (p.Ile3909Phe)
| |
| 1 | g.215728371T>C | CA344829857 | USH2A | c.11725A>G (p.Ile3909Val)
| ClinVar dbSNP |
| 1 | g.215728371T>G | CA344829853 | USH2A | c.11725A>C (p.Ile3909Leu)
| |
| 1 | g.215728371T= | CA1220396591 | USH2A | c.11725A= (p.Ile3909=)
| |
| 1 | g.215728371_215728372del | CA1139656581 | USH2A | c.11724_11725del (p.Ile3909Ter)
| ClinVar dbSNP |
| 1 | g.215728372G>A | CA423430204 | USH2A | c.11724C>T (p.Gly3908=)
| |
| 1 | g.215728372G>C | CA423430207 | USH2A | c.11724C>G (p.Gly3908=)
| |
| 1 | g.215728372G>T | CA423430206 | USH2A | c.11724C>A (p.Gly3908=)
| |
| 1 | g.215728373C>A | CA344829859 | USH2A | c.11723G>T (p.Gly3908Val)
| dbSNP gnomAD v4 |
| 1 | g.215728373C= | CA1220396592 | USH2A | c.11723G= (p.Gly3908=)
| |
| 1 | g.215728373C>G | CA344829861 | USH2A | c.11723G>C (p.Gly3908Ala)
| |
| 1 | g.215728373C>T | CA344829869 | USH2A | c.11723G>A (p.Gly3908Asp)
| gnomAD v4 |
| 1 | g.215728374C>A | CA344829870 | USH2A | c.11722G>T (p.Gly3908Cys)
| |
| 1 | g.215728374C>G | CA344829873 | USH2A | c.11722G>C (p.Gly3908Arg)
| |
| 1 | g.215728374C>T | CA344829875 | USH2A | c.11722G>A (p.Gly3908Ser)
| dbSNP |
| 1 | g.215728375A>C | CA423430211 | USH2A | c.11721T>G (p.Ala3907=)
| gnomAD v4 |
| 1 | g.215728375A>G | CA423430212 | USH2A | c.11721T>C (p.Ala3907=)
| |
| 1 | g.215728375A>T | CA423430214 | USH2A | c.11721T>A (p.Ala3907=)
| |
| 1 | g.215728376G>A | CA344829878 | USH2A | c.11720C>T (p.Ala3907Val)
| |
| 1 | g.215728376G>C | CA344829881 | USH2A | c.11720C>G (p.Ala3907Gly)
| gnomAD v4 |
| 1 | g.215728376G>T | CA344829884 | USH2A | c.11720C>A (p.Ala3907Asp)
| |
| 1 | g.215728377C>A | CA1393626 | USH2A | c.11719G>T (p.Ala3907Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728377C= | CA1220396593 | USH2A | c.11719G= (p.Ala3907=)
| |
| 1 | g.215728377C>G | CA344829889 | USH2A | c.11719G>C (p.Ala3907Pro)
| |
| 1 | g.215728377C>T | CA344829892 | USH2A | c.11719G>A (p.Ala3907Thr)
| |
| 1 | g.215728378A>C | CA423430218 | USH2A | c.11718T>G (p.Pro3906=)
| |
| 1 | g.215728378A>G | CA423430219 | USH2A | c.11718T>C (p.Pro3906=)
| |
| 1 | g.215728378A>T | CA423430220 | USH2A | c.11718T>A (p.Pro3906=)
| |
| 1 | g.215728379G>A | CA344829894 | USH2A | c.11717C>T (p.Pro3906Leu)
| |
| 1 | g.215728379G>C | CA344829901 | USH2A | c.11717C>G (p.Pro3906Arg)
| |
| 1 | g.215728379G= | CA1220396594 | USH2A | c.11717C= (p.Pro3906=)
| |
| 1 | g.215728379G>T | CA344829899 | USH2A | c.11717C>A (p.Pro3906His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728380G>A | CA1393627 | USH2A | c.11716C>T (p.Pro3906Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728380G>C | CA344829907 | USH2A | c.11716C>G (p.Pro3906Ala)
| |
| 1 | g.215728380G= | CA1220396595 | USH2A | c.11716C= (p.Pro3906=)
| |
| 1 | g.215728380G>T | CA344829911 | USH2A | c.11716C>A (p.Pro3906Thr)
| |
| 1 | g.215728381G>A | CA423430225 | USH2A | c.11715C>T (p.Arg3905=)
| COSMIC COSMIC |
| 1 | g.215728381G>C | CA423430226 | USH2A | c.11715C>G (p.Arg3905=)
| ClinVar dbSNP |
| 1 | g.215728381G= | CA1220396596 | USH2A | c.11715C= (p.Arg3905=)
| |
| 1 | g.215728381G>T | CA423430227 | USH2A | c.11715C>A (p.Arg3905=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728381_215728388dup | CA2650501681 | USH2A | c.11712-4_11715dup
| gnomAD v4 |
| 1 | g.215728382C>A | CA344829914 | USH2A | c.11714G>T (p.Arg3905Leu)
| |
| 1 | g.215728382C= | CA1143500617 | USH2A | c.11714G= (p.Arg3905=)
| |
| 1 | g.215728382C>G | CA344829915 | USH2A | c.11714G>C (p.Arg3905Pro)
| |
| 1 | g.215728382C>T | CA1393628 | USH2A | c.11714G>A (p.Arg3905His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728383G>A | CA1393629 | USH2A | c.11713C>T (p.Arg3905Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728383G>C | CA344829923 | USH2A | c.11713C>G (p.Arg3905Gly)
| |
| 1 | g.215728383G= | CA1143613361 | USH2A | c.11713C= (p.Arg3905=)
| |
| 1 | g.215728383G>T | CA344829924 | USH2A | c.11713C>A (p.Arg3905Ser)
| gnomAD v4 |
| 1 | g.215728384T>A | CA344829929 | USH2A | c.11712A>T (p.Arg3904Ser)
| |
| 1 | g.215728384T>C | CA423430228 | USH2A | c.11712A>G (p.Arg3904=)
| ClinVar |
| 1 | g.215728384T>G | CA344829931 | USH2A | c.11712A>C (p.Arg3904Ser)
| |
| 1 | g.215728385C>A | CA344829933 | USH2A | c.11712-1G>T (n.11712-1G>T)
| |
| 1 | g.215728385C>G | CA344829934 | USH2A | c.11712-1G>C (n.11712-1G>C)
| |
| 1 | g.215728385C>T | CA344829937 | USH2A | c.11712-1G>A (n.11712-1G>A)
| |
| 1 | g.215728386T>A | CA344829941 | USH2A | c.11712-2A>T (n.11712-2A>T)
| |
| 1 | g.215728386T>C | CA1393630 | USH2A | c.11712-2A>G (n.11712-2A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728386T>G | CA1393631 | USH2A | c.11712-2A>C (n.11712-2A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728386T= | CA1220396597 | USH2A | c.11712-2A= (n.11712-2A=)
| |
| 1 | g.215728387G>C | CA2573131564 | USH2A | c.11712-3C>G (n.11712-3C>G)
| ClinVar dbSNP |
| 1 | g.215728389A>C | CA2580062174 | USH2A | c.11712-5T>G (n.11712-5T>G)
| ClinVar |
| 1 | g.215728390A= | CA1220396598 | USH2A | c.11712-6T= (n.11712-6T=)
| |
| 1 | g.215728390A>C | CA1393632 | USH2A | c.11712-6T>G (n.11712-6T>G)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215728391G>A | CA2499214465 | USH2A | c.11712-7C>T (n.11712-7C>T)
| ClinVar dbSNP |
| 1 | g.215728391G>C | CA2650501682 | USH2A | c.11712-7C>G (n.11712-7C>G)
| gnomAD v4 |
| 1 | g.215728392G>C | CA1393633 | USH2A | c.11712-8C>G (n.11712-8C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728392G= | CA1144121343 | USH2A | c.11712-8C= (n.11712-8C=)
| |
| 1 | g.215728392G>T | CA37395676 | USH2A | c.11712-8C>A (n.11712-8C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728393A>C | CA2580062175 | USH2A | c.11712-9T>G (n.11712-9T>G)
| ClinVar |
| 1 | g.215728394A= | CA1220396599 | USH2A | c.11712-10T= (n.11712-10T=)
| |
| 1 | g.215728394A>G | CA1393634 | USH2A | c.11712-10T>C (n.11712-10T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728394A>T | CA2650501684 | USH2A | c.11712-10T>A (n.11712-10T>A)
| gnomAD v4 |
| 1 | g.215728397C>A | CA529002142 | USH2A | c.11712-13G>T (n.11712-13G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728397C= | CA1220396600 | USH2A | c.11712-13G= (n.11712-13G=)
| |
| 1 | g.215728401C>A | CA2574001526 | USH2A | c.11712-17G>T (n.11712-17G>T)
| |
| 1 | g.215728403G>A | CA2650501685 | USH2A | c.11712-19C>T (n.11712-19C>T)
| gnomAD v4 |
| 1 | g.215728403G= | CA1220396601 | USH2A | c.11712-19C= (n.11712-19C=)
| |
| 1 | g.215728403G>T | CA37395698 | USH2A | c.11712-19C>A (n.11712-19C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728404del | CA2747719075 | USH2A | c.11712-19del (n.11712-19del)
| |
| 1 | g.215728404G>A | CA529002143 | USH2A | c.11712-20C>T (n.11712-20C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728404G= | CA1220396602 | USH2A | c.11712-20C= (n.11712-20C=)
| |
| 1 | g.215728405C>T | CA2650501686 | USH2A | c.11712-21G>A (n.11712-21G>A)
| gnomAD v4 |
| 1 | g.215728406A= | CA1220396603 | USH2A | c.11712-22T= (n.11712-22T=)
| |
| 1 | g.215728406A>C | CA37395700 | USH2A | c.11712-22T>G (n.11712-22T>G)
| dbSNP gnomAD v4 |
| 1 | g.215728408C= | CA1220396604 | USH2A | c.11712-24G= (n.11712-24G=)
| |
| 1 | g.215728408C>T | CA1012201667 | USH2A | c.11712-24G>A (n.11712-24G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728409C>A | CA2574001538 | USH2A | c.11712-25G>T (n.11712-25G>T)
| |
| 1 | g.215728409C>G | CA2650501687 | USH2A | c.11712-25G>C (n.11712-25G>C)
| gnomAD v4 |
| 1 | g.215728411G>A | CA2506809807 | USH2A | c.11712-27C>T (n.11712-27C>T)
| gnomAD v4 |
| 1 | g.215728413G>T | CA2650501688 | USH2A | c.11712-29C>A (n.11712-29C>A)
| gnomAD v4 |
| 1 | g.215728414A= | CA1220396605 | USH2A | c.11712-30T= (n.11712-30T=)
| |
| 1 | g.215728414A>G | CA1012201675 | USH2A | c.11712-30T>C (n.11712-30T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728415C= | CA1220396606 | USH2A | c.11712-31G= (n.11712-31G=)
| |
| 1 | g.215728415C>G | CA731342337 | USH2A | c.11712-31G>C (n.11712-31G>C)
| dbSNP |
| 1 | g.215728415C>T | CA2697864809 | USH2A | c.11712-31G>A (n.11712-31G>A)
| dbSNP |
| 1 | g.215728417G>A | CA1393635 | USH2A | c.11712-33C>T (n.11712-33C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728417G= | CA1220396607 | USH2A | c.11712-33C= (n.11712-33C=)
| |
| 1 | g.215728417G>T | CA1393636 | USH2A | c.11712-33C>A (n.11712-33C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728419_215728421del | CA2747719076 | USH2A | c.11712-35_11712-33del (n.11712-35_11712-33del)
| |
| 1 | g.215728418C= | CA1220396608 | USH2A | c.11712-34G= (n.11712-34G=)
| |
| 1 | g.215728418C>T | CA1393637 | USH2A | c.11712-34G>A (n.11712-34G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728419T>C | CA529002144 | USH2A | c.11712-35A>G (n.11712-35A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728419T= | CA1220396609 | USH2A | c.11712-35A= (n.11712-35A=)
| |
| 1 | g.215728420G>A | CA2574001542 | USH2A | c.11712-36C>T (n.11712-36C>T)
| gnomAD v4 |
| 1 | g.215728422del | CA2747719077 | USH2A | c.11712-38del (n.11712-38del)
| |
| 1 | g.215728423C= | CA1220396610 | USH2A | c.11712-39G= (n.11712-39G=)
| |
| 1 | g.215728423C>T | CA1393638 | USH2A | c.11712-39G>A (n.11712-39G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728424A= | CA1220396611 | USH2A | c.11712-40T= (n.11712-40T=)
| |
| 1 | g.215728424A>C | CA731342358 | USH2A | c.11712-40T>G (n.11712-40T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728424A>T | CA2650501689 | USH2A | c.11712-40T>A (n.11712-40T>A)
| gnomAD v4 |
| 1 | g.215728425C>T | CA2650501690 | USH2A | c.11712-41G>A (n.11712-41G>A)
| gnomAD v4 |
| 1 | g.215728425_215728426insAGA | CA2747719078 | USH2A | c.11712-42_11712-41insTCT (n.11712-42_11712-41insTCT)
| |
| 1 | g.215728428C= | CA1149115172 | USH2A | c.11712-44G= (n.11712-44G=)
| |
| 1 | g.215728428C>T | CA1393639 | USH2A | c.11712-44G>A (n.11712-44G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728428_215728429del | CA2747719079 | USH2A | c.11712-45_11712-44del (n.11712-45_11712-44del)
| |
| 1 | g.215728428_215728435del | CA2747719080 | USH2A | c.11712-51_11712-44del (n.11712-51_11712-44del)
| |
| 1 | g.215728429A= | CA1220396612 | USH2A | c.11712-45T= (n.11712-45T=)
| |
| 1 | g.215728429A>C | CA2697866487 | USH2A | c.11712-45T>G (n.11712-45T>G)
| dbSNP |
| 1 | g.215728429A>T | CA731342370 | USH2A | c.11712-45T>A (n.11712-45T>A)
| dbSNP |
| 1 | g.215728431A>G | CA2747719081 | USH2A | c.11712-47T>C (n.11712-47T>C)
| |
| 1 | g.215728432A>C | CA2650501691 | USH2A | c.11712-48T>G (n.11712-48T>G)
| gnomAD v4 |
| 1 | g.215728433C>T | CA2574001570 | USH2A | c.11712-49G>A (n.11712-49G>A)
| gnomAD v4 |
| 1 | g.215728434A>C | CA2650501692 | USH2A | c.11712-50T>G (n.11712-50T>G)
| gnomAD v4 |
| 1 | g.215728435A>C | CA2650501693 | USH2A | c.11712-51T>G (n.11712-51T>G)
| gnomAD v4 |
| 1 | g.215728438_215728448del | CA2747719082 | USH2A | c.11712-63_11712-53del (n.11712-63_11712-53del)
| |
| 1 | g.215728438T>G | CA2650501694 | USH2A | c.11712-54A>C (n.11712-54A>C)
| gnomAD v4 |
| 1 | g.215728439T>C | CA2650501695 | USH2A | c.11712-55A>G (n.11712-55A>G)
| gnomAD v4 |
| 1 | g.215728440_215728442del | CA2747719083 | USH2A | c.11712-57_11712-55del (n.11712-57_11712-55del)
| |
| 1 | g.215728441_215728442del | CA2747719084 | USH2A | c.11712-57_11712-56del (n.11712-57_11712-56del)
| |
| 1 | g.215728441G>A | CA731342374 | USH2A | c.11712-57C>T (n.11712-57C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728441G= | CA1220396613 | USH2A | c.11712-57C= (n.11712-57C=)
| |
| 1 | g.215728442T>C | CA2574001581 | USH2A | c.11712-58A>G (n.11712-58A>G)
| gnomAD v4 |
| 1 | g.215728442_215728455del | CA2747719085 | USH2A | c.11712-71_11712-58del (n.11712-71_11712-58del)
| |
