| 1 | g.215782186_215782197delinsAATAATAGGACC | CA1220416762 | USH2A | c.10586-1_10596delinsGGTCCTATTATT
| |
| 1 | g.215782187A= | CA1220416763 | USH2A | c.10595T= (p.Ile3532=)
| |
| 1 | g.215782187A>C | CA344837064 | USH2A | c.10595T>G (p.Ile3532Ser)
| |
| 1 | g.215782187A>G | CA1393972 | USH2A | c.10595T>C (p.Ile3532Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782187A>T | CA344837069 | USH2A | c.10595T>A (p.Ile3532Asn)
| |
| 1 | g.215782187_215782197del | CA37437453 | USH2A | c.10586-1_10595del
| dbSNP |
| 1 | g.215782187_215782197delinsATAATAGGACC | CA1141189276 | USH2A | c.10586-1_10595delinsGGTCCTATTAT
| |
| 1 | g.215782188T>A | CA344837073 | USH2A | c.10594A>T (p.Ile3532Phe)
| |
| 1 | g.215782188T>C | CA344837077 | USH2A | c.10594A>G (p.Ile3532Val)
| |
| 1 | g.215782188T>G | CA344837075 | USH2A | c.10594A>C (p.Ile3532Leu)
| |
| 1 | g.215782189A= | CA1220416765 | USH2A | c.10593T= (p.Ile3531=)
| |
| 1 | g.215782189A>C | CA344837079 | USH2A | c.10593T>G (p.Ile3531Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782189A>G | CA423313325 | USH2A | c.10593T>C (p.Ile3531=)
| ClinVar dbSNP |
| 1 | g.215782189A>T | CA423313324 | USH2A | c.10593T>A (p.Ile3531=)
| |
| 1 | g.215782190del | CA2580062047 | USH2A | c.10593del (p.Ile3532PhefsTer18)
| ClinVar |
| 1 | g.215782190A= | CA1220416769 | USH2A | c.10592T= (p.Ile3531=)
| |
| 1 | g.215782190A>C | CA344837087 | USH2A | c.10592T>G (p.Ile3531Ser)
| |
| 1 | g.215782190A>G | CA344837082 | USH2A | c.10592T>C (p.Ile3531Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782190A>T | CA344837085 | USH2A | c.10592T>A (p.Ile3531Asn)
| |
| 1 | g.215782191T>A | CA344837091 | USH2A | c.10591A>T (p.Ile3531Phe)
| |
| 1 | g.215782191T>C | CA1393973 | USH2A | c.10591A>G (p.Ile3531Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782191T>G | CA344837094 | USH2A | c.10591A>C (p.Ile3531Leu)
| |
| 1 | g.215782191T= | CA1220416772 | USH2A | c.10591A= (p.Ile3531=)
| |
| 1 | g.215782192A= | CA1220416775 | USH2A | c.10590T= (p.Pro3530=)
| |
| 1 | g.215782192A>C | CA423313327 | USH2A | c.10590T>G (p.Pro3530=)
| |
| 1 | g.215782192A>G | CA423313329 | USH2A | c.10590T>C (p.Pro3530=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782192A>T | CA423313328 | USH2A | c.10590T>A (p.Pro3530=)
| |
| 1 | g.215782193G>A | CA344837098 | USH2A | c.10589C>T (p.Pro3530Leu)
| dbSNP gnomAD v4 |
| 1 | g.215782193G>C | CA344837101 | USH2A | c.10589C>G (p.Pro3530Arg)
| |
| 1 | g.215782193G= | CA1220416783 | USH2A | c.10589C= (p.Pro3530=)
| |
| 1 | g.215782193G>T | CA344837102 | USH2A | c.10589C>A (p.Pro3530His)
| |
| 1 | g.215782193_215782194delinsTT | CA645522759 | USH2A | c.10588_10589delinsAA (p.Pro3530Asn)
| COSMIC COSMIC |
| 1 | g.215782194G>A | CA344837106 | USH2A | c.10588C>T (p.Pro3530Ser)
| |
| 1 | g.215782194G>C | CA344837108 | USH2A | c.10588C>G (p.Pro3530Ala)
| |
| 1 | g.215782194G= | CA1220416785 | USH2A | c.10588C= (p.Pro3530=)
| |
| 1 | g.215782194G>T | CA344837112 | USH2A | c.10588C>A (p.Pro3530Thr)
| dbSNP gnomAD v2 |
| 1 | g.215782195A= | CA1220416786 | USH2A | c.10587T= (p.Gly3529=)
| |
| 1 | g.215782195A>C | CA423313333 | USH2A | c.10587T>G (p.Gly3529=)
| |
| 1 | g.215782195A>G | CA423313334 | USH2A | c.10587T>C (p.Gly3529=)
| |
| 1 | g.215782195A>T | CA423313335 | USH2A | c.10587T>A (p.Gly3529=)
| dbSNP |
| 1 | g.215782196C>A | CA344837119 | USH2A | c.10586G>T (p.Gly3529Val)
| dbSNP |
| 1 | g.215782196C= | CA1220416788 | USH2A | c.10586G= (p.Gly3529=)
| |
| 1 | g.215782196C>G | CA344837117 | USH2A | c.10586G>C (p.Gly3529Ala)
| |
| 1 | g.215782196C>T | CA344837116 | USH2A | c.10586G>A (p.Gly3529Asp)
| |
| 1 | g.215782197C>A | CA344837123 | USH2A | c.10586-1G>T (n.10586-1G>T)
| dbSNP |
| 1 | g.215782197C= | CA1220416791 | USH2A | c.10586-1G= (n.10586-1G=)
| |
| 1 | g.215782197C>G | CA344837125 | USH2A | c.10586-1G>C (n.10586-1G>C)
| |
| 1 | g.215782197C>T | CA344837127 | USH2A | c.10586-1G>A (n.10586-1G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782197_215782200del | CA2747720974 | USH2A | c.10586-4_10586-1del (n.10586-4_10586-1del)
| |
| 1 | g.215782197_215782201del | CA2747720975 | USH2A | c.10586-5_10586-1del (n.10586-5_10586-1del)
| |
