1 | g.215640610_215640632del | CA913072741 | USH2A | c.14894_14916del (p.Val4965GlyfsTer28)
| |
1 | g.215640610_215640632delinsGCGTCGCCCTCCGTCGGTTAACA | CA1220359699 | USH2A | c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC (p.Val4965=)
| |
1 | g.215640614_215640635del | CA658822634 | USH2A | c.14894_14915del (p.Val4965AlafsTer?)
| ClinVar dbSNP |
1 | g.215640623T>A | CA344827798 | USH2A | c.14903A>T (p.Asp4968Val)
| |
1 | g.215640623T>C | CA344827800 | USH2A | c.14903A>G (p.Asp4968Gly)
| gnomAD v4 |
1 | g.215640623T>G | CA344827801 | USH2A | c.14903A>C (p.Asp4968Ala)
| |
1 | g.215640624C>A | CA344827803 | USH2A | c.14902G>T (p.Asp4968Tyr)
| |
1 | g.215640624C= | CA1220359705 | USH2A | c.14902G= (p.Asp4968=)
| |
1 | g.215640624C>G | CA344827806 | USH2A | c.14902G>C (p.Asp4968His)
| |
1 | g.215640624C>T | CA1392895 | USH2A | c.14902G>A (p.Asp4968Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215640624_215640656delinsCGGTTAACACGTACTCCTTCAGTTGGCCGTTCA | CA1220359706 | USH2A | c.14870_14902delinsTGAACGGCCAACTGAAGGAGTACGTGTTAACCG (p.Leu4957=)
| |
1 | g.215640625G>A | CA143372 | USH2A | c.14901C>T (p.Thr4967=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215640625G>C | CA1392896 | USH2A | c.14901C>G (p.Thr4967=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215640625G= | CA1144229136 | USH2A | c.14901C= (p.Thr4967=)
| |
1 | g.215640625G>T | CA423306864 | USH2A | c.14901C>A (p.Thr4967=)
| |
1 | g.215640625_215640633delinsGGTTAACAC | CA1220359707 | USH2A | c.14893_14901delinsGTGTTAACC (p.Val4965=)
| |
1 | g.215640627_215640658del | CA916082109 | USH2A | c.14870_14901del (p.Leu4957ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215640626G>A | CA344827815 | USH2A | c.14900C>T (p.Thr4967Ile)
| |
1 | g.215640626G>C | CA344827821 | USH2A | c.14900C>G (p.Thr4967Ser)
| |
1 | g.215640626G>T | CA344827818 | USH2A | c.14900C>A (p.Thr4967Asn)
| gnomAD v4 |
1 | g.215640628_215640635del | CA529002047 | USH2A | c.14893_14900del (p.Val4965ArgfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215640627T>A | CA344827824 | USH2A | c.14899A>T (p.Thr4967Ser)
| |
1 | g.215640627T>C | CA344827826 | USH2A | c.14899A>G (p.Thr4967Ala)
| |
1 | g.215640627T>G | CA344827829 | USH2A | c.14899A>C (p.Thr4967Pro)
| |
1 | g.215640627_215640633del | CA2574001638 | USH2A | c.14893_14899del (p.Val4965ProfsTer?)
| |
1 | g.215640628T>A | CA344827832 | USH2A | c.14898A>T (p.Leu4966Phe)
| |
1 | g.215640628T>C | CA423306865 | USH2A | c.14898A>G (p.Leu4966=)
| |
1 | g.215640628T>G | CA344827834 | USH2A | c.14898A>C (p.Leu4966Phe)
| |
1 | g.215640629A>C | CA344827838 | USH2A | c.14897T>G (p.Leu4966Ter)
| |
1 | g.215640629A>G | CA344827840 | USH2A | c.14897T>C (p.Leu4966Ser)
| |
1 | g.215640629A>T | CA344827842 | USH2A | c.14897T>A (p.Leu4966Ter)
| |
1 | g.215640630del | CA2697554875 | USH2A | c.14897del (p.Leu4966Ter)
| ClinVar |
1 | g.215640630A>C | CA344827845 | USH2A | c.14896T>G (p.Leu4966Val)
| |
1 | g.215640630A>G | CA423306866 | USH2A | c.14896T>C (p.Leu4966=)
| |
1 | g.215640630A>T | CA344827846 | USH2A | c.14896T>A (p.Leu4966Ile)
| |
1 | g.215640630_215640631delinsAC | CA1220359708 | USH2A | c.14895_14896delinsGT (p.Val4965=)
| |
1 | g.215640631del | CA1139656546 | USH2A | c.14895del (p.Leu4966Ter)
| ClinVar dbSNP |
1 | g.215640631C>A | CA423306869 | USH2A | c.14895G>T (p.Val4965=)
| |
1 | g.215640631C>G | CA423306867 | USH2A | c.14895G>C (p.Val4965=)
| |
1 | g.215640631C>T | CA423306868 | USH2A | c.14895G>A (p.Val4965=)
| |
1 | g.215640632A= | CA1220359709 | USH2A | c.14894T= (p.Val4965=)
| |
1 | g.215640632A>C | CA344827850 | USH2A | c.14894T>G (p.Val4965Gly)
| |
1 | g.215640632A>G | CA344827854 | USH2A | c.14894T>C (p.Val4965Ala)
| dbSNP |
1 | g.215640632A>T | CA344827857 | USH2A | c.14894T>A (p.Val4965Glu)
| |
1 | g.215640633C>A | CA344827865 | USH2A | c.14893G>T (p.Val4965Leu)
| dbSNP COSMIC |
1 | g.215640633C= | CA1142292888 | USH2A | c.14893G= (p.Val4965=)
| |
1 | g.215640633C>G | CA344827861 | USH2A | c.14893G>C (p.Val4965Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215640633C>T | CA1392897 | USH2A | c.14893G>A (p.Val4965Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215640634G>A | CA1392898 | USH2A | c.14892C>T (p.Tyr4964=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215640634G>C | CA344827869 | USH2A | c.14892C>G (p.Tyr4964Ter)
| |