| 1 | g.215647502_215648786del | CA3260665404 | USH2A | c.14344-20_14791+20del
| |
| 1 | g.215648709_215648711del | CA913072743 | USH2A | c.14402_14404del (p.Tyr4801del)
| |
| 1 | g.215648712_215648715del | CA423425697 | USH2A | c.14399_14402del (p.Asn4800ThrfsTer5)
| |
| 1 | g.215648709A>C | CA344833986 | USH2A | c.14401T>G (p.Tyr4801Asp)
| |
| 1 | g.215648709A>G | CA344833989 | USH2A | c.14401T>C (p.Tyr4801His)
| |
| 1 | g.215648709A>T | CA344833991 | USH2A | c.14401T>A (p.Tyr4801Asn)
| |
| 1 | g.215648710G>A | CA423425699 | USH2A | c.14400C>T (p.Asn4800=)
| |
| 1 | g.215648710G>C | CA344833993 | USH2A | c.14400C>G (p.Asn4800Lys)
| |
| 1 | g.215648710G>T | CA344833995 | USH2A | c.14400C>A (p.Asn4800Lys)
| |
| 1 | g.215648711T>A | CA344833999 | USH2A | c.14399A>T (p.Asn4800Ile)
| |
| 1 | g.215648711T>C | CA344834001 | USH2A | c.14399A>G (p.Asn4800Ser)
| |
| 1 | g.215648711T>G | CA344834004 | USH2A | c.14399A>C (p.Asn4800Thr)
| |
| 1 | g.215648712T>A | CA344834007 | USH2A | c.14398A>T (p.Asn4800Tyr)
| |
| 1 | g.215648712T>C | CA1393025 | USH2A | c.14398A>G (p.Asn4800Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648712T>G | CA344834010 | USH2A | c.14398A>C (p.Asn4800His)
| |
| 1 | g.215648712T= | CA1143709536 | USH2A | c.14398A= (p.Asn4800=)
| dbSNP |
| 1 | g.215648713del | CA2650500439 | USH2A | c.14397del (p.Asn4800ThrfsTer6)
| dbSNP gnomAD v4 |
| 1 | g.215648713A= | CA1220363211 | USH2A | c.14397T= (p.Thr4799=)
| dbSNP dbSNP |
| 1 | g.215648713A>C | CA423425703 | USH2A | c.14397T>G (p.Thr4799=)
| |
| 1 | g.215648713A>G | CA423425701 | USH2A | c.14397T>C (p.Thr4799=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215648713A>T | CA423425702 | USH2A | c.14397T>A (p.Thr4799=)
| |
| 1 | g.215648714G>A | CA344834012 | USH2A | c.14396C>T (p.Thr4799Ile)
| ClinVar dbSNP COSMIC |
| 1 | g.215648714G>C | CA344834018 | USH2A | c.14396C>G (p.Thr4799Ser)
| |
| 1 | g.215648714G= | CA3075692471 | USH2A | c.14396C= (p.Thr4799=)
| dbSNP |
| 1 | g.215648714G>T | CA344834016 | USH2A | c.14396C>A (p.Thr4799Asn)
| COSMIC COSMIC |
| 1 | g.215648715T>A | CA344834022 | USH2A | c.14395A>T (p.Thr4799Ser)
| |
| 1 | g.215648715T>C | CA344834023 | USH2A | c.14395A>G (p.Thr4799Ala)
| dbSNP |
| 1 | g.215648715T>G | CA344834027 | USH2A | c.14395A>C (p.Thr4799Pro)
| |
| 1 | g.215648715T= | CA1220363212 | USH2A | c.14395A= (p.Thr4799=)
| dbSNP |
| 1 | g.215648716G>A | CA423425707 | USH2A | c.14394C>T (p.Phe4798=)
| dbSNP gnomAD v4 |
| 1 | g.215648716G>C | CA344834028 | USH2A | c.14394C>G (p.Phe4798Leu)
| |
| 1 | g.215648716G= | CA3077339309 | USH2A | c.14394C= (p.Phe4798=)
| dbSNP |
| 1 | g.215648716G>T | CA344834029 | USH2A | c.14394C>A (p.Phe4798Leu)
| |
| 1 | g.215648717A= | CA3077339314 | USH2A | c.14393T= (p.Phe4798=)
| dbSNP |
| 1 | g.215648717A>C | CA344834030 | USH2A | c.14393T>G (p.Phe4798Cys)
| |
| 1 | g.215648717A>G | CA344834031 | USH2A | c.14393T>C (p.Phe4798Ser)
| dbSNP gnomAD v4 |
| 1 | g.215648717A>T | CA344834032 | USH2A | c.14393T>A (p.Phe4798Tyr)
| |
| 1 | g.215648718A>C | CA344834033 | USH2A | c.14392T>G (p.Phe4798Val)
| |
| 1 | g.215648718A>G | CA344834034 | USH2A | c.14392T>C (p.Phe4798Leu)
| |
| 1 | g.215648718A>T | CA344834035 | USH2A | c.14392T>A (p.Phe4798Ile)
| |
| 1 | g.215648719G>A | CA423425710 | USH2A | c.14391C>T (p.Ala4797=)
| |
| 1 | g.215648719G>C | CA423425709 | USH2A | c.14391C>G (p.Ala4797=)
| |
| 1 | g.215648719G>T | CA423425711 | USH2A | c.14391C>A (p.Ala4797=)
| |
| 1 | g.215648720dup | CA2960079003 | USH2A | c.14391dup (p.Phe4798LeufsTer3)
| |
| 1 | g.215648720G>A | CA344834040 | USH2A | c.14390C>T (p.Ala4797Val)
| |
| 1 | g.215648720G>C | CA344834038 | USH2A | c.14390C>G (p.Ala4797Gly)
| |
| 1 | g.215648720G>T | CA344834037 | USH2A | c.14390C>A (p.Ala4797Asp)
| |
| 1 | g.215648721C>A | CA344834042 | USH2A | c.14389G>T (p.Ala4797Ser)
| |
| 1 | g.215648721C= | CA3077339317 | USH2A | c.14389G= (p.Ala4797=)
| dbSNP |
| 1 | g.215648721C>G | CA344834043 | USH2A | c.14389G>C (p.Ala4797Pro)
| |
