| 1 | g.216246947_216246959del | CA913072829 | USH2A | c.2436_2448del (p.Gly813AlafsTer?)
| |
| 1 | g.216246947_216246959delinsATGCACTGCCCTG | CA1220619182 | USH2A | c.2435_2447delinsCAGGGCAGTGCAT (p.Thr812=)
| |
| 1 | g.216246949_216246960dup | CA37501343 | USH2A | c.2435_2446dup (p.Cys815_Ile816insThrGlyGlnCys)
| dbSNP |
| 1 | g.216246949_216246960del | CA1396228 | USH2A | c.2435_2446del (p.Thr812_Cys815del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246950C>A | CA344864785 | USH2A | c.2444G>T (p.Cys815Phe)
| |
| 1 | g.216246950C= | CA1220619184 | USH2A | c.2444G= (p.Cys815=)
| |
| 1 | g.216246950C>G | CA344864787 | USH2A | c.2444G>C (p.Cys815Ser)
| ClinVar dbSNP |
| 1 | g.216246950C>T | CA344864786 | USH2A | c.2444G>A (p.Cys815Tyr)
| gnomAD v4 |
| 1 | g.216246951A>C | CA344864788 | USH2A | c.2443T>G (p.Cys815Gly)
| |
| 1 | g.216246951A>G | CA344864790 | USH2A | c.2443T>C (p.Cys815Arg)
| |
| 1 | g.216246951A>T | CA344864789 | USH2A | c.2443T>A (p.Cys815Ser)
| |
| 1 | g.216246952C>A | CA344864791 | USH2A | c.2442G>T (p.Gln814His)
| |
| 1 | g.216246952C= | CA1220619185 | USH2A | c.2442G= (p.Gln814=)
| |
| 1 | g.216246952C>G | CA344864792 | USH2A | c.2442G>C (p.Gln814His)
| |
| 1 | g.216246952C>T | CA423431970 | USH2A | c.2442G>A (p.Gln814=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246953T>A | CA344864793 | USH2A | c.2441A>T (p.Gln814Leu)
| |
| 1 | g.216246953T>C | CA344864794 | USH2A | c.2441A>G (p.Gln814Arg)
| |
| 1 | g.216246953T>G | CA344864795 | USH2A | c.2441A>C (p.Gln814Pro)
| |
| 1 | g.216246954G>A | CA344864796 | USH2A | c.2440C>T (p.Gln814Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246954G>C | CA344864797 | USH2A | c.2440C>G (p.Gln814Glu)
| |
| 1 | g.216246954G= | CA1220619187 | USH2A | c.2440C= (p.Gln814=)
| |
| 1 | g.216246954G>T | CA344864798 | USH2A | c.2440C>A (p.Gln814Lys)
| |
| 1 | g.216246954_216246955delinsGC | CA1220619186 | USH2A | c.2439_2440delinsGC (p.Gly813=)
| |
| 1 | g.216246955C>A | CA423431980 | USH2A | c.2439G>T (p.Gly813=)
| |
| 1 | g.216246955C>G | CA423431982 | USH2A | c.2439G>C (p.Gly813=)
| ClinVar dbSNP |
| 1 | g.216246955C>T | CA423431985 | USH2A | c.2439G>A (p.Gly813=)
| |
| 1 | g.216246957del | CA731431711 | USH2A | c.2439del (p.Gln814SerfsTer?)
| ClinVar dbSNP |
| 1 | g.216246956C>A | CA344864799 | USH2A | c.2438G>T (p.Gly813Val)
| |
| 1 | g.216246956C= | CA1220619188 | USH2A | c.2438G= (p.Gly813=)
| |
| 1 | g.216246956C>G | CA344864800 | USH2A | c.2438G>C (p.Gly813Ala)
| |
| 1 | g.216246956C>T | CA344864801 | USH2A | c.2438G>A (p.Gly813Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246957C>A | CA344864802 | USH2A | c.2437G>T (p.Gly813Trp)
| |
| 1 | g.216246957C>G | CA344864803 | USH2A | c.2437G>C (p.Gly813Arg)
| |
| 1 | g.216246957C>T | CA344864804 | USH2A | c.2437G>A (p.Gly813Arg)
| |
| 1 | g.216246958T>A | CA423431989 | USH2A | c.2436A>T (p.Thr812=)
| |
| 1 | g.216246958T>C | CA1396231 | USH2A | c.2436A>G (p.Thr812=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246958T>G | CA423431991 | USH2A | c.2436A>C (p.Thr812=)
| |
| 1 | g.216246958T= | CA1149064980 | USH2A | c.2436A= (p.Thr812=)
| |
| 1 | g.216246959G>A | CA1396232 | USH2A | c.2435C>T (p.Thr812Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246959G>C | CA344864805 | USH2A | c.2435C>G (p.Thr812Arg)
| |
| 1 | g.216246959G= | CA1220619189 | USH2A | c.2435C= (p.Thr812=)
| |
| 1 | g.216246959G>T | CA344864806 | USH2A | c.2435C>A (p.Thr812Lys)
| |
| 1 | g.216246960T>A | CA344864807 | USH2A | c.2434A>T (p.Thr812Ser)
| gnomAD v4 |
| 1 | g.216246960T>C | CA344864808 | USH2A | c.2434A>G (p.Thr812Ala)
| |
| 1 | g.216246960T>G | CA344864809 | USH2A | c.2434A>C (p.Thr812Pro)
| |
| 1 | g.216246961C>A | CA344864810 | USH2A | c.2433G>T (p.Lys811Asn)
| |
| 1 | g.216246961C>G | CA344864811 | USH2A | c.2433G>C (p.Lys811Asn)
| |
| 1 | g.216246961C>T | CA423431998 | USH2A | c.2433G>A (p.Lys811=)
| |
| 1 | g.216246961_216246967delinsCTTAGCA | CA1220619190 | USH2A | c.2427_2433delinsTGCTAAG (p.Asn809=)
| |
| 1 | g.216246962T>A | CA344864812 | USH2A | c.2432A>T (p.Lys811Met)
| |
| 1 | g.216246962T>C | CA344864813 | USH2A | c.2432A>G (p.Lys811Arg)
| |
| 1 | g.216246962T>G | CA344864814 | USH2A | c.2432A>C (p.Lys811Thr)
| |
| 1 | g.216246962_216246963del | CA2499214517 | USH2A | c.2431_2432del (p.Lys811AspfsTer11)
| ClinVar dbSNP |
| 1 | g.216246965_216246970del | CA1396233 | USH2A | c.2427_2432del (p.Asn809_Ala810del)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246963T>A | CA344864816 | USH2A | c.2431A>T (p.Lys811Ter)
| |
| 1 | g.216246963T>C | CA344864817 | USH2A | c.2431A>G (p.Lys811Glu)
| |
| 1 | g.216246963T>G | CA344864815 | USH2A | c.2431A>C (p.Lys811Gln)
| |
| 1 | g.216246964A>C | CA423432003 | USH2A | c.2430T>G (p.Ala810=)
| |
| 1 | g.216246964A>G | CA423432004 | USH2A | c.2430T>C (p.Ala810=)
| |
| 1 | g.216246964A>T | CA423432005 | USH2A | c.2430T>A (p.Ala810=)
| |
| 1 | g.216246965G>A | CA344864818 | USH2A | c.2429C>T (p.Ala810Val)
| gnomAD v4 |
| 1 | g.216246965G>C | CA1396234 | USH2A | c.2429C>G (p.Ala810Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246965G= | CA1220619191 | USH2A | c.2429C= (p.Ala810=)
| |
| 1 | g.216246965G>T | CA344864819 | USH2A | c.2429C>A (p.Ala810Asp)
| |
| 1 | g.216246966C>A | CA344864820 | USH2A | c.2428G>T (p.Ala810Ser)
| |
| 1 | g.216246966C= | CA1220619192 | USH2A | c.2428G= (p.Ala810=)
| |
| 1 | g.216246966C>G | CA344864821 | USH2A | c.2428G>C (p.Ala810Pro)
| |
| 1 | g.216246966C>T | CA344864822 | USH2A | c.2428G>A (p.Ala810Thr)
| dbSNP gnomAD v4 |
| 1 | g.216246967A= | CA1220619193 | USH2A | c.2427T= (p.Asn809=)
| |
| 1 | g.216246967A>C | CA344864823 | USH2A | c.2427T>G (p.Asn809Lys)
| |
| 1 | g.216246967A>G | CA423432010 | USH2A | c.2427T>C (p.Asn809=)
| dbSNP |
| 1 | g.216246967A>T | CA344864824 | USH2A | c.2427T>A (p.Asn809Lys)
| |
| 1 | g.216246968T>A | CA344864825 | USH2A | c.2426A>T (p.Asn809Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216246968T>C | CA344864826 | USH2A | c.2426A>G (p.Asn809Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246968T>G | CA344864827 | USH2A | c.2426A>C (p.Asn809Thr)
| |
| 1 | g.216246968T= | CA1220619194 | USH2A | c.2426A= (p.Asn809=)
| |
| 1 | g.216246969T>A | CA344864828 | USH2A | c.2425A>T (p.Asn809Tyr)
| |
| 1 | g.216246969T>C | CA344864829 | USH2A | c.2425A>G (p.Asn809Asp)
| |
| 1 | g.216246969T>G | CA344864830 | USH2A | c.2425A>C (p.Asn809His)
| dbSNP gnomAD v4 |
| 1 | g.216246969T= | CA1220619195 | USH2A | c.2425A= (p.Asn809=)
| |
| 1 | g.216246969_216246971delinsATAAG | CA2580062133 | USH2A | c.2423_2425delinsCTTAT (p.Cys808SerfsTer?)
| ClinVar |
| 1 | g.216246970A>C | CA344864831 | USH2A | c.2424T>G (p.Cys808Trp)
| |
| 1 | g.216246970A>G | CA423432014 | USH2A | c.2424T>C (p.Cys808=)
| |
| 1 | g.216246970A>T | CA344864832 | USH2A | c.2424T>A (p.Cys808Ter)
| |
| 1 | g.216246971C>A | CA344864833 | USH2A | c.2423G>T (p.Cys808Phe)
| |
| 1 | g.216246971C= | CA1220619196 | USH2A | c.2423G= (p.Cys808=)
| |
| 1 | g.216246971C>G | CA344864834 | USH2A | c.2423G>C (p.Cys808Ser)
| |
| 1 | g.216246971C>T | CA344864835 | USH2A | c.2423G>A (p.Cys808Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246972A>C | CA344864836 | USH2A | c.2422T>G (p.Cys808Gly)
| |
| 1 | g.216246972A>G | CA344864837 | USH2A | c.2422T>C (p.Cys808Arg)
| |
| 1 | g.216246972A>T | CA344864838 | USH2A | c.2422T>A (p.Cys808Ser)
| |
| 1 | g.216246973G>A | CA1396235 | USH2A | c.2421C>T (p.Val807=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246973G>C | CA423432020 | USH2A | c.2421C>G (p.Val807=)
| |
| 1 | g.216246973G= | CA1148728050 | USH2A | c.2421C= (p.Val807=)
| |
| 1 | g.216246973G>T | CA423432021 | USH2A | c.2421C>A (p.Val807=)
| |
| 1 | g.216246974A>C | CA344864839 | USH2A | c.2420T>G (p.Val807Gly)
| |
| 1 | g.216246974A>G | CA344864840 | USH2A | c.2420T>C (p.Val807Ala)
| |
| 1 | g.216246974A>T | CA344864841 | USH2A | c.2420T>A (p.Val807Asp)
| |
| 1 | g.216246975C>A | CA344864842 | USH2A | c.2419G>T (p.Val807Phe)
| |
| 1 | g.216246975C= | CA1220619197 | USH2A | c.2419G= (p.Val807=)
| |
| 1 | g.216246975C>G | CA344864843 | USH2A | c.2419G>C (p.Val807Leu)
| |
| 1 | g.216246975C>T | CA344864844 | USH2A | c.2419G>A (p.Val807Ile)
| dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 1 | g.216246976A= | CA1220619198 | USH2A | c.2418T= (p.Thr806=)
| |
| 1 | g.216246976A>C | CA423432029 | USH2A | c.2418T>G (p.Thr806=)
| |
| 1 | g.216246976A>G | CA37501366 | USH2A | c.2418T>C (p.Thr806=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246976A>T | CA423432030 | USH2A | c.2418T>A (p.Thr806=)
| |
| 1 | g.216246977G>A | CA1396236 | USH2A | c.2417C>T (p.Thr806Ile)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246977G>C | CA344864845 | USH2A | c.2417C>G (p.Thr806Ser)
| |
| 1 | g.216246977G= | CA1220619199 | USH2A | c.2417C= (p.Thr806=)
| |
| 1 | g.216246977G>T | CA344864846 | USH2A | c.2417C>A (p.Thr806Asn)
| |
| 1 | g.216246977_216246978insA | CA2580062135 | USH2A | c.2416_2417insT (p.Thr806IlefsTer4)
| ClinVar |
| 1 | g.216246978T>A | CA344864847 | USH2A | c.2416A>T (p.Thr806Ser)
| |
| 1 | g.216246978T>C | CA16043807 | USH2A | c.2416A>G (p.Thr806Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246978T>G | CA344864848 | USH2A | c.2416A>C (p.Thr806Pro)
| |
| 1 | g.216246978T= | CA1220619200 | USH2A | c.2416A= (p.Thr806=)
| |
| 1 | g.216246979C>A | CA423432033 | USH2A | c.2415G>T (p.Gly805=)
| ClinVar |
| 1 | g.216246979C= | CA1220619201 | USH2A | c.2415G= (p.Gly805=)
| |
| 1 | g.216246979C>G | CA423432034 | USH2A | c.2415G>C (p.Gly805=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246979C>T | CA423432032 | USH2A | c.2415G>A (p.Gly805=)
| |
| 1 | g.216246980C>A | CA344864849 | USH2A | c.2414G>T (p.Gly805Val)
| COSMIC |
| 1 | g.216246980C= | CA1148224996 | USH2A | c.2414G= (p.Gly805=)
| |
| 1 | g.216246980C>G | CA270788 | USH2A | c.2414G>C (p.Gly805Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246980C>T | CA344864850 | USH2A | c.2414G>A (p.Gly805Glu)
| gnomAD v4 |
| 1 | g.216246981C>A | CA344864851 | USH2A | c.2413G>T (p.Gly805Trp)
| gnomAD v4 |
| 1 | g.216246981C>G | CA344864852 | USH2A | c.2413G>C (p.Gly805Arg)
| |
| 1 | g.216246981C>T | CA344864853 | USH2A | c.2413G>A (p.Gly805Arg)
| |
| 1 | g.216246982A= | CA1220619202 | USH2A | c.2412T= (p.Pro804=)
| |
| 1 | g.216246982A>C | CA423432040 | USH2A | c.2412T>G (p.Pro804=)
| |
| 1 | g.216246982A>G | CA423432039 | USH2A | c.2412T>C (p.Pro804=)
| |
| 1 | g.216246982A>T | CA423432038 | USH2A | c.2412T>A (p.Pro804=)
| |
| 1 | g.216246983G>A | CA37501370 | USH2A | c.2411C>T (p.Pro804Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246983G>C | CA344864854 | USH2A | c.2411C>G (p.Pro804Arg)
| |
| 1 | g.216246983G= | CA1220619203 | USH2A | c.2411C= (p.Pro804=)
| |
| 1 | g.216246983G>T | CA344864855 | USH2A | c.2411C>A (p.Pro804His)
| |
| 1 | g.216246985dup | CA913072830 | USH2A | c.2411dup (p.Gly805TrpfsTer5)
| dbSNP |
| 1 | g.216246985del | CA2586964556 | USH2A | c.2411del (p.Pro804LeufsTer?)
| ClinVar |
| 1 | g.216246984G>A | CA344864858 | USH2A | c.2410C>T (p.Pro804Ser)
| ClinVar dbSNP |
| 1 | g.216246984G>C | CA344864857 | USH2A | c.2410C>G (p.Pro804Ala)
| |
| 1 | g.216246984G= | CA1220619204 | USH2A | c.2410C= (p.Pro804=)
| |
| 1 | g.216246984G>T | CA344864856 | USH2A | c.2410C>A (p.Pro804Thr)
| |
| 1 | g.216246984_216247004dup | CA658823243 | USH2A | c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
| ClinVar dbSNP |
| 1 | g.216246985G>A | CA423432042 | USH2A | c.2409C>T (p.Leu803=)
| ClinVar dbSNP |
| 1 | g.216246985G>C | CA423432044 | USH2A | c.2409C>G (p.Leu803=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246985G= | CA1220619205 | USH2A | c.2409C= (p.Leu803=)
| |
| 1 | g.216246985G>T | CA423432043 | USH2A | c.2409C>A (p.Leu803=)
| |
| 1 | g.216246986A>C | CA344864859 | USH2A | c.2408T>G (p.Leu803Arg)
| |
| 1 | g.216246986A>G | CA344864860 | USH2A | c.2408T>C (p.Leu803Pro)
| |
| 1 | g.216246986A>T | CA344864861 | USH2A | c.2408T>A (p.Leu803His)
| |
| 1 | g.216246987G>A | CA344864862 | USH2A | c.2407C>T (p.Leu803Phe)
| |
| 1 | g.216246987G>C | CA344864863 | USH2A | c.2407C>G (p.Leu803Val)
| |
| 1 | g.216246987G>T | CA344864864 | USH2A | c.2407C>A (p.Leu803Ile)
| |
| 1 | g.216246988G>A | CA423432050 | USH2A | c.2406C>T (p.Ser802=)
| |
| 1 | g.216246988G>C | CA423432051 | USH2A | c.2406C>G (p.Ser802=)
| |
| 1 | g.216246988G>T | CA423432052 | USH2A | c.2406C>A (p.Ser802=)
| |
| 1 | g.216246989G>A | CA344864865 | USH2A | c.2405C>T (p.Ser802Phe)
| |
| 1 | g.216246989G>C | CA1396237 | USH2A | c.2405C>G (p.Ser802Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246989G= | CA1220619206 | USH2A | c.2405C= (p.Ser802=)
| |
| 1 | g.216246989G>T | CA344864866 | USH2A | c.2405C>A (p.Ser802Tyr)
| |
| 1 | g.216246990A>C | CA344864867 | USH2A | c.2404T>G (p.Ser802Ala)
| |
| 1 | g.216246990A>G | CA344864868 | USH2A | c.2404T>C (p.Ser802Pro)
| |
| 1 | g.216246990A>T | CA344864869 | USH2A | c.2404T>A (p.Ser802Thr)
| |
| 1 | g.216246991T>A | CA423432053 | USH2A | c.2403A>T (p.Gly801=)
| |
| 1 | g.216246991T>C | CA423432054 | USH2A | c.2403A>G (p.Gly801=)
| |
| 1 | g.216246991T>G | CA423432055 | USH2A | c.2403A>C (p.Gly801=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246991T= | CA1220619207 | USH2A | c.2403A= (p.Gly801=)
| |
| 1 | g.216246992C>A | CA344864872 | USH2A | c.2402G>T (p.Gly801Val)
| |
| 1 | g.216246992C>G | CA344864871 | USH2A | c.2402G>C (p.Gly801Ala)
| |
| 1 | g.216246992C>T | CA344864870 | USH2A | c.2402G>A (p.Gly801Glu)
| |
| 1 | g.216246993C>A | CA344864873 | USH2A | c.2401G>T (p.Gly801Ter)
| gnomAD v4 |
| 1 | g.216246993C>G | CA344864874 | USH2A | c.2401G>C (p.Gly801Arg)
| |
| 1 | g.216246993C>T | CA344864875 | USH2A | c.2401G>A (p.Gly801Arg)
| gnomAD v4 |
| 1 | g.216246994A= | CA1220619208 | USH2A | c.2400T= (p.Ala800=)
| |
| 1 | g.216246994A>C | CA423432056 | USH2A | c.2400T>G (p.Ala800=)
| |
| 1 | g.216246994A>G | CA423432057 | USH2A | c.2400T>C (p.Ala800=)
| dbSNP |
| 1 | g.216246994A>T | CA423432058 | USH2A | c.2400T>A (p.Ala800=)
| |
| 1 | g.216246995G>A | CA344864876 | USH2A | c.2399C>T (p.Ala800Val)
| |
| 1 | g.216246995G>C | CA344864877 | USH2A | c.2399C>G (p.Ala800Gly)
| |
| 1 | g.216246995G>T | CA344864878 | USH2A | c.2399C>A (p.Ala800Asp)
| |
| 1 | g.216246996C>A | CA344864879 | USH2A | c.2398G>T (p.Ala800Ser)
| |
| 1 | g.216246996C= | CA1144075084 | USH2A | c.2398G= (p.Ala800=)
| |
| 1 | g.216246996C>G | CA344864880 | USH2A | c.2398G>C (p.Ala800Pro)
| |
| 1 | g.216246996C>T | CA37501376 | USH2A | c.2398G>A (p.Ala800Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246997T>A | CA423432059 | USH2A | c.2397A>T (p.Thr799=)
| |
| 1 | g.216246997T>C | CA423432060 | USH2A | c.2397A>G (p.Thr799=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246997T>G | CA423432061 | USH2A | c.2397A>C (p.Thr799=)
| |
| 1 | g.216246997T= | CA1220619209 | USH2A | c.2397A= (p.Thr799=)
| |
| 1 | g.216247000_216247001dup | CA529002656 | USH2A | c.2396_2397dup (p.Ala800GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246998G>A | CA344864881 | USH2A | c.2396C>T (p.Thr799Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246998G>C | CA344864882 | USH2A | c.2396C>G (p.Thr799Arg)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246998G= | CA1220619210 | USH2A | c.2396C= (p.Thr799=)
| |
| 1 | g.216246998G>T | CA344864883 | USH2A | c.2396C>A (p.Thr799Lys)
| |
| 1 | g.216246999T>A | CA344864885 | USH2A | c.2395A>T (p.Thr799Ser)
| |
| 1 | g.216246999T>C | CA344864886 | USH2A | c.2395A>G (p.Thr799Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246999T>G | CA344864884 | USH2A | c.2395A>C (p.Thr799Pro)
| |
| 1 | g.216246999T= | CA1220619211 | USH2A | c.2395A= (p.Thr799=)
| |
| 1 | g.216247000G>A | CA423432062 | USH2A | c.2394C>T (p.Asp798=)
| gnomAD v4 |
| 1 | g.216247000G>C | CA344864887 | USH2A | c.2394C>G (p.Asp798Glu)
| |
| 1 | g.216247000G>T | CA344864888 | USH2A | c.2394C>A (p.Asp798Glu)
| |
| 1 | g.216247001T>A | CA1396238 | USH2A | c.2393A>T (p.Asp798Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247001T>C | CA344864889 | USH2A | c.2393A>G (p.Asp798Gly)
| ClinVar dbSNP |
| 1 | g.216247001T>G | CA344864890 | USH2A | c.2393A>C (p.Asp798Ala)
| |
| 1 | g.216247001T= | CA1142240647 | USH2A | c.2393A= (p.Asp798=)
| |
| 1 | g.216247001_216247003delinsTCA | CA1220619212 | USH2A | c.2391_2393delinsTGA (p.Cys797=)
| |
| 1 | g.216247002C>A | CA344864893 | USH2A | c.2392G>T (p.Asp798Tyr)
| gnomAD v4 |
| 1 | g.216247002C>G | CA344864891 | USH2A | c.2392G>C (p.Asp798His)
| |
| 1 | g.216247002C>T | CA344864892 | USH2A | c.2392G>A (p.Asp798Asn)
| ClinVar dbSNP |
| 1 | g.216247004_216247005del | CA1220619213 | USH2A | c.2391_2392del (p.Cys797Ter)
| ClinVar dbSNP |
| 1 | g.216247003A>C | CA344864894 | USH2A | c.2391T>G (p.Cys797Trp)
| |
| 1 | g.216247003A>G | CA423432063 | USH2A | c.2391T>C (p.Cys797=)
| |
| 1 | g.216247003A>T | CA344864895 | USH2A | c.2391T>A (p.Cys797Ter)
| |
| 1 | g.216247004C>A | CA344864896 | USH2A | c.2390G>T (p.Cys797Phe)
| |
| 1 | g.216247004C= | CA1220619214 | USH2A | c.2390G= (p.Cys797=)
| |
| 1 | g.216247004C>G | CA344864897 | USH2A | c.2390G>C (p.Cys797Ser)
| |
| 1 | g.216247004C>T | CA344864898 | USH2A | c.2390G>A (p.Cys797Tyr)
| dbSNP gnomAD v4 |
| 1 | g.216247005A>C | CA344864899 | USH2A | c.2389T>G (p.Cys797Gly)
| |
| 1 | g.216247005A>G | CA344864901 | USH2A | c.2389T>C (p.Cys797Arg)
| |
| 1 | g.216247005A>T | CA344864900 | USH2A | c.2389T>A (p.Cys797Ser)
| |
| 1 | g.216247006G>A | CA423432064 | USH2A | c.2388C>T (p.Asp796=)
| ClinVar |
| 1 | g.216247006G>C | CA37501383 | USH2A | c.2388C>G (p.Asp796Glu)
| dbSNP |
| 1 | g.216247006G= | CA1143714261 | USH2A | c.2388C= (p.Asp796=)
| |
| 1 | g.216247006G>T | CA344864902 | USH2A | c.2388C>A (p.Asp796Glu)
| |
| 1 | g.216247007T>A | CA344864903 | USH2A | c.2387A>T (p.Asp796Val)
| |
| 1 | g.216247007T>C | CA344864904 | USH2A | c.2387A>G (p.Asp796Gly)
| |
| 1 | g.216247007T>G | CA344864905 | USH2A | c.2387A>C (p.Asp796Ala)
| |
| 1 | g.216247008C>A | CA344864906 | USH2A | c.2386G>T (p.Asp796Tyr)
| |
| 1 | g.216247008C= | CA1220619215 | USH2A | c.2386G= (p.Asp796=)
| |
| 1 | g.216247008C>G | CA344864907 | USH2A | c.2386G>C (p.Asp796His)
| |
| 1 | g.216247008C>T | CA344864908 | USH2A | c.2386G>A (p.Asp796Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247009A>C | CA344864910 | USH2A | c.2385T>G (p.Cys795Trp)
| |
| 1 | g.216247009A>G | CA423432065 | USH2A | c.2385T>C (p.Cys795=)
| |
| 1 | g.216247009A>T | CA344864909 | USH2A | c.2385T>A (p.Cys795Ter)
| |
| 1 | g.216247010C>A | CA344864911 | USH2A | c.2384G>T (p.Cys795Phe)
| |
| 1 | g.216247010C= | CA1220619216 | USH2A | c.2384G= (p.Cys795=)
| |
| 1 | g.216247010C>G | CA344864912 | USH2A | c.2384G>C (p.Cys795Ser)
| |
| 1 | g.216247010C>T | CA1396239 | USH2A | c.2384G>A (p.Cys795Tyr)
| ClinVar dbSNP ExAC |
| 1 | g.216247011A>C | CA344864913 | USH2A | c.2383T>G (p.Cys795Gly)
| |
| 1 | g.216247011A>G | CA344864914 | USH2A | c.2383T>C (p.Cys795Arg)
| |
| 1 | g.216247011A>T | CA344864915 | USH2A | c.2383T>A (p.Cys795Ser)
| |
| 1 | g.216247012G>A | CA423432066 | USH2A | c.2382C>T (p.Ala794=)
| |
| 1 | g.216247012G>C | CA423432067 | USH2A | c.2382C>G (p.Ala794=)
| |
| 1 | g.216247012G>T | CA423432068 | USH2A | c.2382C>A (p.Ala794=)
| |
| 1 | g.216247013G>A | CA344864916 | USH2A | c.2381C>T (p.Ala794Val)
| |
| 1 | g.216247013G>C | CA344864918 | USH2A | c.2381C>G (p.Ala794Gly)
| |
| 1 | g.216247013G>T | CA344864917 | USH2A | c.2381C>A (p.Ala794Asp)
| ClinVar |
| 1 | g.216247014C>A | CA344864919 | USH2A | c.2380G>T (p.Ala794Ser)
| |
| 1 | g.216247014C= | CA1220619217 | USH2A | c.2380G= (p.Ala794=)
| |
| 1 | g.216247014C>G | CA344864920 | USH2A | c.2380G>C (p.Ala794Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247014C>T | CA344864921 | USH2A | c.2380G>A (p.Ala794Thr)
| |
| 1 | g.216247015C>A | CA344864922 | USH2A | c.2379G>T (p.Lys793Asn)
| gnomAD v4 |
| 1 | g.216247015C>G | CA344864923 | USH2A | c.2379G>C (p.Lys793Asn)
| |
| 1 | g.216247015C>T | CA423432069 | USH2A | c.2379G>A (p.Lys793=)
| |
| 1 | g.216247016T>A | CA344864924 | USH2A | c.2378A>T (p.Lys793Met)
| |
| 1 | g.216247016T>C | CA344864925 | USH2A | c.2378A>G (p.Lys793Arg)
| |
| 1 | g.216247016T>G | CA344864926 | USH2A | c.2378A>C (p.Lys793Thr)
| |
| 1 | g.216247017T>A | CA344864927 | USH2A | c.2377A>T (p.Lys793Ter)
| ClinVar |
| 1 | g.216247017T>C | CA344864928 | USH2A | c.2377A>G (p.Lys793Glu)
| COSMIC |
| 1 | g.216247017T>G | CA344864929 | USH2A | c.2377A>C (p.Lys793Gln)
| |
| 1 | g.216247018A>C | CA344864931 | USH2A | c.2376T>G (p.Cys792Trp)
| |
| 1 | g.216247018A>G | CA423432070 | USH2A | c.2376T>C (p.Cys792=)
| |
| 1 | g.216247018A>T | CA344864930 | USH2A | c.2376T>A (p.Cys792Ter)
| gnomAD v4 |
| 1 | g.216247019C>A | CA344864932 | USH2A | c.2375G>T (p.Cys792Phe)
| |
| 1 | g.216247019C= | CA1220619218 | USH2A | c.2375G= (p.Cys792=)
| |
| 1 | g.216247019C>G | CA1396240 | USH2A | c.2375G>C (p.Cys792Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247019C>T | CA344864933 | USH2A | c.2375G>A (p.Cys792Tyr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247020A>C | CA344864934 | USH2A | c.2374T>G (p.Cys792Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216247020A>G | CA344864935 | USH2A | c.2374T>C (p.Cys792Arg)
| |
| 1 | g.216247020A>T | CA344864936 | USH2A | c.2374T>A (p.Cys792Ser)
| |
| 1 | g.216247021A= | CA1220619219 | USH2A | c.2373T= (p.Asn791=)
| |
| 1 | g.216247021A>C | CA1396241 | USH2A | c.2373T>G (p.Asn791Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247021A>G | CA423432071 | USH2A | c.2373T>C (p.Asn791=)
| |
| 1 | g.216247021A>T | CA344864937 | USH2A | c.2373T>A (p.Asn791Lys)
| |
| 1 | g.216247021_216247022insCC | CA2530522360 | USH2A | c.2372_2373insGG (p.Asn791LysfsTer?)
| |
| 1 | g.216247022T>A | CA344864938 | USH2A | c.2372A>T (p.Asn791Ile)
| |
| 1 | g.216247022T>C | CA1396242 | USH2A | c.2372A>G (p.Asn791Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247022T>G | CA344864939 | USH2A | c.2372A>C (p.Asn791Thr)
| |
| 1 | g.216247022T= | CA1220619220 | USH2A | c.2372A= (p.Asn791=)
| |
| 1 | g.216247022_216247023insG | CA2507773116 | USH2A | c.2371_2372insC (p.Asn791ThrfsTer3)
| |
| 1 | g.216247023T>A | CA344864940 | USH2A | c.2371A>T (p.Asn791Tyr)
| |
| 1 | g.216247023T>C | CA344864941 | USH2A | c.2371A>G (p.Asn791Asp)
| |
| 1 | g.216247023T>G | CA344864942 | USH2A | c.2371A>C (p.Asn791His)
| |
| 1 | g.216247024G>A | CA423432074 | USH2A | c.2370C>T (p.Thr790=)
| |
| 1 | g.216247024G>C | CA423432073 | USH2A | c.2370C>G (p.Thr790=)
| ClinVar |
| 1 | g.216247024G= | CA1220619221 | USH2A | c.2370C= (p.Thr790=)
| |
| 1 | g.216247024G>T | CA423432072 | USH2A | c.2370C>A (p.Thr790=)
| dbSNP |
| 1 | g.216247025G>A | CA344864945 | USH2A | c.2369C>T (p.Thr790Ile)
| |
| 1 | g.216247025G>C | CA344864943 | USH2A | c.2369C>G (p.Thr790Ser)
| |
| 1 | g.216247025G>T | CA344864944 | USH2A | c.2369C>A (p.Thr790Asn)
| |
| 1 | g.216247026T>A | CA344864946 | USH2A | c.2368A>T (p.Thr790Ser)
| |
| 1 | g.216247026T>C | CA344864947 | USH2A | c.2368A>G (p.Thr790Ala)
| |
| 1 | g.216247026T>G | CA344864948 | USH2A | c.2368A>C (p.Thr790Pro)
| |
| 1 | g.216247027G>A | CA1396243 | USH2A | c.2367C>T (p.Val789=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247027G>C | CA423432076 | USH2A | c.2367C>G (p.Val789=)
| |
| 1 | g.216247027G= | CA1144558909 | USH2A | c.2367C= (p.Val789=)
| |
| 1 | g.216247027G>T | CA423432075 | USH2A | c.2367C>A (p.Val789=)
| |
| 1 | g.216247028A= | CA1220619222 | USH2A | c.2366T= (p.Val789=)
| |
| 1 | g.216247028A>C | CA344864949 | USH2A | c.2366T>G (p.Val789Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247028A>G | CA344864950 | USH2A | c.2366T>C (p.Val789Ala)
| |
| 1 | g.216247028A>T | CA344864951 | USH2A | c.2366T>A (p.Val789Asp)
| |
| 1 | g.216247028_216247030del | CA2513822778 | USH2A | c.2364_2366del (p.Val789del)
| |
| 1 | g.216247029C>A | CA344864952 | USH2A | c.2365G>T (p.Val789Phe)
| |
| 1 | g.216247029C= | CA1143360341 | USH2A | c.2365G= (p.Val789=)
| |
| 1 | g.216247029C>G | CA344864953 | USH2A | c.2365G>C (p.Val789Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247029C>T | CA1396244 | USH2A | c.2365G>A (p.Val789Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247030A>C | CA344864954 | USH2A | c.2364T>G (p.Asp788Glu)
| |
| 1 | g.216247030A>G | CA423432077 | USH2A | c.2364T>C (p.Asp788=)
| |
| 1 | g.216247030A>T | CA344864955 | USH2A | c.2364T>A (p.Asp788Glu)
| |
| 1 | g.216247031del | CA2586964557 | USH2A | c.2363del (p.Asp788ValfsTer?)
| |
| 1 | g.216247031T>A | CA344864956 | USH2A | c.2363A>T (p.Asp788Val)
| |
| 1 | g.216247031T>C | CA344864958 | USH2A | c.2363A>G (p.Asp788Gly)
| gnomAD v4 |
| 1 | g.216247031T>G | CA344864957 | USH2A | c.2363A>C (p.Asp788Ala)
| |
| 1 | g.216247032C>A | CA344864959 | USH2A | c.2362G>T (p.Asp788Tyr)
| gnomAD v4 |
| 1 | g.216247032C= | CA1220619223 | USH2A | c.2362G= (p.Asp788=)
| |
| 1 | g.216247032C>G | CA344864961 | USH2A | c.2362G>C (p.Asp788His)
| |
| 1 | g.216247032C>T | CA344864960 | USH2A | c.2362G>A (p.Asp788Asn)
| dbSNP |
| 1 | g.216247033T>A | CA344864962 | USH2A | c.2361A>T (p.Leu787Phe)
| |
| 1 | g.216247033T>C | CA423432078 | USH2A | c.2361A>G (p.Leu787=)
| |
| 1 | g.216247033T>G | CA344864963 | USH2A | c.2361A>C (p.Leu787Phe)
| gnomAD v4 |
| 1 | g.216247034A>C | CA344864964 | USH2A | c.2360T>G (p.Leu787Ter)
| |
| 1 | g.216247034A>G | CA344864965 | USH2A | c.2360T>C (p.Leu787Ser)
| |
| 1 | g.216247034A>T | CA344864966 | USH2A | c.2360T>A (p.Leu787Ter)
| |
| 1 | g.216247035A= | CA1220619224 | USH2A | c.2359T= (p.Leu787=)
| |
| 1 | g.216247035A>C | CA344864967 | USH2A | c.2359T>G (p.Leu787Val)
| |
| 1 | g.216247035A>G | CA423432079 | USH2A | c.2359T>C (p.Leu787=)
| |
| 1 | g.216247035A>T | CA344864968 | USH2A | c.2359T>A (p.Leu787Ile)
| dbSNP |
| 1 | g.216247036C>A | CA423432080 | USH2A | c.2358G>T (p.Gly786=)
| |
| 1 | g.216247036C= | CA1220619225 | USH2A | c.2358G= (p.Gly786=)
| |
| 1 | g.216247036C>G | CA423432081 | USH2A | c.2358G>C (p.Gly786=)
| |
| 1 | g.216247036C>T | CA1396245 | USH2A | c.2358G>A (p.Gly786=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.216247037C>A | CA344864969 | USH2A | c.2357G>T (p.Gly786Val)
| |
| 1 | g.216247037C>G | CA344864970 | USH2A | c.2357G>C (p.Gly786Ala)
| |
| 1 | g.216247037C>T | CA344864971 | USH2A | c.2357G>A (p.Gly786Glu)
| |
| 1 | g.216247037_216247038delinsAT | CA2580062140 | USH2A | c.2356_2357delinsAT (p.Gly786Met)
| ClinVar |
| 1 | g.216247038C>A | CA344864974 | USH2A | c.2356G>T (p.Gly786Trp)
| gnomAD v4 |
| 1 | g.216247038C= | CA1220619226 | USH2A | c.2356G= (p.Gly786=)
| |
| 1 | g.216247038C>G | CA344864972 | USH2A | c.2356G>C (p.Gly786Arg)
| |
| 1 | g.216247038C>T | CA344864973 | USH2A | c.2356G>A (p.Gly786Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247039A>C | CA344864975 | USH2A | c.2355T>G (p.Tyr785Ter)
| |
| 1 | g.216247039A>G | CA423432082 | USH2A | c.2355T>C (p.Tyr785=)
| |
| 1 | g.216247039A>T | CA344864976 | USH2A | c.2355T>A (p.Tyr785Ter)
| |
| 1 | g.216247040T>A | CA344864977 | USH2A | c.2354A>T (p.Tyr785Phe)
| |
| 1 | g.216247040T>C | CA344864978 | USH2A | c.2354A>G (p.Tyr785Cys)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247040T>G | CA37501426 | USH2A | c.2354A>C (p.Tyr785Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247040T= | CA1145798343 | USH2A | c.2354A= (p.Tyr785=)
| |
| 1 | g.216247041A= | CA1220619227 | USH2A | c.2353T= (p.Tyr785=)
| |
| 1 | g.216247041A>C | CA344864979 | USH2A | c.2353T>G (p.Tyr785Asp)
| |
| 1 | g.216247041A>G | CA344864980 | USH2A | c.2353T>C (p.Tyr785His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247041A>T | CA344864981 | USH2A | c.2353T>A (p.Tyr785Asn)
| COSMIC COSMIC COSMIC |
| 1 | g.216247042A>C | CA344864982 | USH2A | c.2352T>G (p.Phe784Leu)
| |
| 1 | g.216247042A>G | CA423431380 | USH2A | c.2352T>C (p.Phe784=)
| |
| 1 | g.216247042A>T | CA344864983 | USH2A | c.2352T>A (p.Phe784Leu)
| |
| 1 | g.216247043A>C | CA344864985 | USH2A | c.2351T>G (p.Phe784Cys)
| |
| 1 | g.216247043A>G | CA344864986 | USH2A | c.2351T>C (p.Phe784Ser)
| |
| 1 | g.216247043A>T | CA344864984 | USH2A | c.2351T>A (p.Phe784Tyr)
| |
| 1 | g.216247044A= | CA1220619228 | USH2A | c.2350T= (p.Phe784=)
| |
| 1 | g.216247044A>C | CA37501427 | USH2A | c.2350T>G (p.Phe784Val)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247044A>G | CA344864987 | USH2A | c.2350T>C (p.Phe784Leu)
| |
| 1 | g.216247044A>T | CA344864988 | USH2A | c.2350T>A (p.Phe784Ile)
| |
| 1 | g.216247045G>A | CA423431381 | USH2A | c.2349C>T (p.Asn783=)
| ClinVar dbSNP |
| 1 | g.216247045G>C | CA344864989 | USH2A | c.2349C>G (p.Asn783Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247045G= | CA1220619229 | USH2A | c.2349C= (p.Asn783=)
| |
| 1 | g.216247045G>T | CA344864990 | USH2A | c.2349C>A (p.Asn783Lys)
| gnomAD v4 |
| 1 | g.216247046T>A | CA344864993 | USH2A | c.2348A>T (p.Asn783Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216247046T>C | CA344864991 | USH2A | c.2348A>G (p.Asn783Ser)
| dbSNP gnomAD v4 |
| 1 | g.216247046T>G | CA344864992 | USH2A | c.2348A>C (p.Asn783Thr)
| COSMIC COSMIC COSMIC |
| 1 | g.216247046T= | CA1220619230 | USH2A | c.2348A= (p.Asn783=)
| |
| 1 | g.216247047T>A | CA344864994 | USH2A | c.2347A>T (p.Asn783Tyr)
| |
| 1 | g.216247047T>C | CA344864995 | USH2A | c.2347A>G (p.Asn783Asp)
| |
| 1 | g.216247047T>G | CA344864996 | USH2A | c.2347A>C (p.Asn783His)
| |
| 1 | g.216247048T>A | CA344864997 | USH2A | c.2346A>T (p.Glu782Asp)
| |
| 1 | g.216247048T>C | CA423431388 | USH2A | c.2346A>G (p.Glu782=)
| gnomAD v4 |
| 1 | g.216247048T>G | CA344864998 | USH2A | c.2346A>C (p.Glu782Asp)
| |
| 1 | g.216247049T>A | CA344864999 | USH2A | c.2345A>T (p.Glu782Val)
| |
| 1 | g.216247049T>C | CA344865001 | USH2A | c.2345A>G (p.Glu782Gly)
| |
| 1 | g.216247049T>G | CA344865000 | USH2A | c.2345A>C (p.Glu782Ala)
| |
| 1 | g.216247050C>A | CA344865002 | USH2A | c.2344G>T (p.Glu782Ter)
| |
| 1 | g.216247050C>G | CA344865003 | USH2A | c.2344G>C (p.Glu782Gln)
| |
| 1 | g.216247050C>T | CA344865004 | USH2A | c.2344G>A (p.Glu782Lys)
| |
