| 1 | g.215648587_215648600del | CA2650500259 | USH2A | c.14512_14525del (p.Gly4838LysfsTer21)
| dbSNP gnomAD v4 |
| 1 | g.215648594_215648599dup | CA3246640814 | USH2A | c.14511_14516dup (p.Thr4839_Leu4840insGlyThr)
| ClinVar |
| 1 | g.215648597C>A | CA1393006 | USH2A | c.14513G>T (p.Gly4838Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648597C= | CA1140614952 | USH2A | c.14513G= (p.Gly4838=)
| dbSNP |
| 1 | g.215648597C>G | CA344833401 | USH2A | c.14513G>C (p.Gly4838Ala)
| |
| 1 | g.215648597C>T | CA143354 | USH2A | c.14513G>A (p.Gly4838Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648598C>A | CA344833409 | USH2A | c.14512G>T (p.Gly4838Trp)
| dbSNP gnomAD v4 |
| 1 | g.215648598C= | CA1144679276 | USH2A | c.14512G= (p.Gly4838=)
| dbSNP |
| 1 | g.215648598C>G | CA344833407 | USH2A | c.14512G>C (p.Gly4838Arg)
| |
| 1 | g.215648598C>T | CA1393007 | USH2A | c.14512G>A (p.Gly4838Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648599G>A | CA1393008 | USH2A | c.14511C>T (p.Ile4837=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215648599G>C | CA344833413 | USH2A | c.14511C>G (p.Ile4837Met)
| |
| 1 | g.215648599G= | CA1141706556 | USH2A | c.14511C= (p.Ile4837=)
| dbSNP |
| 1 | g.215648599G>T | CA423425543 | USH2A | c.14511C>A (p.Ile4837=)
| |
| 1 | g.215648600A= | CA3077339190 | USH2A | c.14510T= (p.Ile4837=)
| dbSNP |
| 1 | g.215648600A>C | CA344833415 | USH2A | c.14510T>G (p.Ile4837Ser)
| |
| 1 | g.215648600A>G | CA344833417 | USH2A | c.14510T>C (p.Ile4837Thr)
| dbSNP gnomAD v4 |
| 1 | g.215648600A>T | CA344833418 | USH2A | c.14510T>A (p.Ile4837Asn)
| |
| 1 | g.215648601T>A | CA344833420 | USH2A | c.14509A>T (p.Ile4837Phe)
| |
| 1 | g.215648601T>C | CA344833423 | USH2A | c.14509A>G (p.Ile4837Val)
| ClinVar |
| 1 | g.215648601T>G | CA344833425 | USH2A | c.14509A>C (p.Ile4837Leu)
| |
| 1 | g.215648602T>A | CA344833427 | USH2A | c.14508A>T (p.Gln4836His)
| |
| 1 | g.215648602T>C | CA423425547 | USH2A | c.14508A>G (p.Gln4836=)
| |
| 1 | g.215648602T>G | CA344833430 | USH2A | c.14508A>C (p.Gln4836His)
| |
| 1 | g.215648603T>A | CA344833434 | USH2A | c.14507A>T (p.Gln4836Leu)
| |
| 1 | g.215648603T>C | CA1393009 | USH2A | c.14507A>G (p.Gln4836Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648603T>G | CA344833437 | USH2A | c.14507A>C (p.Gln4836Pro)
| |
| 1 | g.215648603T= | CA1143415420 | USH2A | c.14507A= (p.Gln4836=)
| dbSNP |
| 1 | g.215648604G>A | CA344833441 | USH2A | c.14506C>T (p.Gln4836Ter)
| |
| 1 | g.215648604G>C | CA344833443 | USH2A | c.14506C>G (p.Gln4836Glu)
| |
| 1 | g.215648604G>T | CA344833439 | USH2A | c.14506C>A (p.Gln4836Lys)
| |
| 1 | g.215648605T>A | CA423425549 | USH2A | c.14505A>T (p.Pro4835=)
| |
| 1 | g.215648605T>C | CA423425550 | USH2A | c.14505A>G (p.Pro4835=)
| COSMIC COSMIC |
| 1 | g.215648605T>G | CA423425551 | USH2A | c.14505A>C (p.Pro4835=)
| |
| 1 | g.215648607_215648654del | CA2586968104 | USH2A | c.14458_14505del (p.Ala4820_Pro4835del)
| ClinVar |
| 1 | g.215648606G>A | CA344833447 | USH2A | c.14504C>T (p.Pro4835Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648606G>C | CA344833450 | USH2A | c.14504C>G (p.Pro4835Arg)
| |
| 1 | g.215648606G= | CA1220363177 | USH2A | c.14504C= (p.Pro4835=)
| dbSNP |
| 1 | g.215648606G>T | CA1393010 | USH2A | c.14504C>A (p.Pro4835Gln)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215648606_215648608delinsGGA | CA1220363178 | USH2A | c.14502_14504delinsTCC (p.Ser4834=)
| |
| 1 | g.215648607G>A | CA344833456 | USH2A | c.14503C>T (p.Pro4835Ser)
| dbSNP gnomAD v4 |
| 1 | g.215648607G>C | CA344833458 | USH2A | c.14503C>G (p.Pro4835Ala)
| |
| 1 | g.215648607G= | CA3077339192 | USH2A | c.14503C= (p.Pro4835=)
| dbSNP |
| 1 | g.215648607G>T | CA344833460 | USH2A | c.14503C>A (p.Pro4835Thr)
| |
| 1 | g.215648610_215648611del | CA275371 | USH2A | c.14502_14503del (p.Pro4835ThrfsTer28)
| ClinVar dbSNP |
| 1 | g.215648608A= | CA1220363179 | USH2A | c.14502T= (p.Ser4834=)
| dbSNP |
| 1 | g.215648608A>C | CA423425554 | USH2A | c.14502T>G (p.Ser4834=)
| |
| 1 | g.215648608A>G | CA1393011 | USH2A | c.14502T>C (p.Ser4834=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215648608A>T | CA423425555 | USH2A | c.14502T>A (p.Ser4834=)
| |
| 1 | g.215648609G>A | CA344833471 | USH2A | c.14501C>T (p.Ser4834Phe)
| dbSNP gnomAD v4 |
