1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
1 | g.215674445C>A | CA344845109 | USH2A | c.13466G>T (p.Gly4489Val)
| |
1 | g.215674445C= | CA1144233401 | USH2A | c.13466G= (p.Gly4489=)
| |
1 | g.215674445C>G | CA344845110 | USH2A | c.13466G>C (p.Gly4489Ala)
| |
1 | g.215674445C>T | CA270141 | USH2A | c.13466G>A (p.Gly4489Asp)
| ClinVar dbSNP gnomAD v4 |
1 | g.215674446dup | CA2586968123 | USH2A | c.13466dup (p.Glu4491GlyfsTer6)
| |
1 | g.215674446C>A | CA344845114 | USH2A | c.13465G>T (p.Gly4489Cys)
| |
1 | g.215674446C= | CA1220373557 | USH2A | c.13465G= (p.Gly4489=)
| |
1 | g.215674446C>G | CA344845116 | USH2A | c.13465G>C (p.Gly4489Arg)
| gnomAD v4 |
1 | g.215674446C>T | CA344845118 | USH2A | c.13465G>A (p.Gly4489Ser)
| ClinVar dbSNP |
1 | g.215674446_215674447insAC | CA1139656545 | USH2A | c.13465_13466insTG (p.Gly4489ValfsTer22)
| ClinVar dbSNP |
1 | g.215674447T>A | CA37412409 | USH2A | c.13464A>T (p.Thr4488=)
| dbSNP gnomAD v4 |
1 | g.215674447T>C | CA1393285 | USH2A | c.13464A>G (p.Thr4488=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215674447T>G | CA423427417 | USH2A | c.13464A>C (p.Thr4488=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215674447T= | CA1149111204 | USH2A | c.13464A= (p.Thr4488=)
| |
1 | g.215674448G>A | CA344845121 | USH2A | c.13463C>T (p.Thr4488Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215674448G>C | CA344845119 | USH2A | c.13463C>G (p.Thr4488Arg)
| |
1 | g.215674448G= | CA1220373558 | USH2A | c.13463C= (p.Thr4488=)
| |
1 | g.215674448G>T | CA344845120 | USH2A | c.13463C>A (p.Thr4488Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215674449T>A | CA344845123 | USH2A | c.13462A>T (p.Thr4488Ser)
| |
1 | g.215674449T>C | CA344845125 | USH2A | c.13462A>G (p.Thr4488Ala)
| dbSNP |
1 | g.215674449T>G | CA344845126 | USH2A | c.13462A>C (p.Thr4488Pro)
| |
1 | g.215674449T= | CA1220373559 | USH2A | c.13462A= (p.Thr4488=)
| |
1 | g.215674450A>C | CA344845128 | USH2A | c.13461T>G (p.Tyr4487Ter)
| |
1 | g.215674450A>G | CA423427424 | USH2A | c.13461T>C (p.Tyr4487=)
| |
1 | g.215674450A>T | CA344845130 | USH2A | c.13461T>A (p.Tyr4487Ter)
| |
1 | g.215674451T>A | CA344845132 | USH2A | c.13460A>T (p.Tyr4487Phe)
| |
1 | g.215674451T>C | CA1393286 | USH2A | c.13460A>G (p.Tyr4487Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215674451T>G | CA344845135 | USH2A | c.13460A>C (p.Tyr4487Ser)
| |
1 | g.215674451T= | CA1220373560 | USH2A | c.13460A= (p.Tyr4487=)
| |
1 | g.215674452A>C | CA344845137 | USH2A | c.13459T>G (p.Tyr4487Asp)
| |
1 | g.215674452A>G | CA344845138 | USH2A | c.13459T>C (p.Tyr4487His)
| |
1 | g.215674452A>T | CA344845139 | USH2A | c.13459T>A (p.Tyr4487Asn)
| |
1 | g.215674453T>A | CA423427429 | USH2A | c.13458A>T (p.Val4486=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215674453T>C | CA423427430 | USH2A | c.13458A>G (p.Val4486=)
| dbSNP |
1 | g.215674453T>G | CA423427431 | USH2A | c.13458A>C (p.Val4486=)
| |
1 | g.215674453T= | CA1220373561 | USH2A | c.13458A= (p.Val4486=)
| |
1 | g.215674454A>C | CA344845141 | USH2A | c.13457T>G (p.Val4486Gly)
| |
1 | g.215674454A>G | CA344845142 | USH2A | c.13457T>C (p.Val4486Ala)
| |
1 | g.215674454A>T | CA344845140 | USH2A | c.13457T>A (p.Val4486Glu)
| |
1 | g.215674455C>A | CA344845143 | USH2A | c.13456G>T (p.Val4486Leu)
| |
1 | g.215674455C= | CA1220373562 | USH2A | c.13456G= (p.Val4486=)
| |
1 | g.215674455C>G | CA344845144 | USH2A | c.13456G>C (p.Val4486Leu)
| |
1 | g.215674455C>T | CA344845145 | USH2A | c.13456G>A (p.Val4486Ile)
| dbSNP |
1 | g.215674456A>C | CA344845147 | USH2A | c.13455T>G (p.Ile4485Met)
| |
1 | g.215674456A>G | CA423427433 | USH2A | c.13455T>C (p.Ile4485=)
| |
1 | g.215674456A>T | CA423427434 | USH2A | c.13455T>A (p.Ile4485=)
| gnomAD v4 |
1 | g.215674457A>C | CA344845153 | USH2A | c.13454T>G (p.Ile4485Ser)
| |
1 | g.215674457A>G | CA344845151 | USH2A | c.13454T>C (p.Ile4485Thr)
| |
1 | g.215674457A>T | CA344845150 | USH2A | c.13454T>A (p.Ile4485Asn)
| |