| 1 | g.215648587_215648600del | CA2650500259 | USH2A | c.14512_14525del (p.Gly4838LysfsTer21)
| dbSNP gnomAD v4 |
| 1 | g.215648591A= | CA1141919606 | USH2A | c.14519T= (p.Leu4840=)
| dbSNP |
| 1 | g.215648591A>C | CA344833366 | USH2A | c.14519T>G (p.Leu4840Arg)
| |
| 1 | g.215648591A>G | CA143360 | USH2A | c.14519T>C (p.Leu4840Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648591A>T | CA344833369 | USH2A | c.14519T>A (p.Leu4840Gln)
| |
| 1 | g.215648592G>A | CA423425529 | USH2A | c.14518C>T (p.Leu4840=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215648592G>C | CA344833374 | USH2A | c.14518C>G (p.Leu4840Val)
| |
| 1 | g.215648592G= | CA1220363176 | USH2A | c.14518C= (p.Leu4840=)
| dbSNP |
| 1 | g.215648592G>T | CA344833377 | USH2A | c.14518C>A (p.Leu4840Met)
| |
| 1 | g.215648593C>A | CA1393005 | USH2A | c.14517G>T (p.Thr4839=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215648593C= | CA1144229138 | USH2A | c.14517G= (p.Thr4839=)
| dbSNP |
| 1 | g.215648593C>G | CA423425531 | USH2A | c.14517G>C (p.Thr4839=)
| |
| 1 | g.215648593C>T | CA143358 | USH2A | c.14517G>A (p.Thr4839=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648594G>A | CA143356 | USH2A | c.14516C>T (p.Thr4839Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648594G>C | CA344833383 | USH2A | c.14516C>G (p.Thr4839Arg)
| |
| 1 | g.215648594G= | CA1141657871 | USH2A | c.14516C= (p.Thr4839=)
| dbSNP |
| 1 | g.215648594G>T | CA344833385 | USH2A | c.14516C>A (p.Thr4839Lys)
| COSMIC COSMIC |
| 1 | g.215648594_215648599dup | CA3246640814 | USH2A | c.14511_14516dup (p.Thr4839_Leu4840insGlyThr)
| ClinVar |
| 1 | g.215648595T>A | CA344833387 | USH2A | c.14515A>T (p.Thr4839Ser)
| |
| 1 | g.215648595T>C | CA344833394 | USH2A | c.14515A>G (p.Thr4839Ala)
| |
| 1 | g.215648595T>G | CA344833396 | USH2A | c.14515A>C (p.Thr4839Pro)
| |
| 1 | g.215648596C>A | CA423425534 | USH2A | c.14514G>T (p.Gly4838=)
| |
| 1 | g.215648596C>G | CA423425536 | USH2A | c.14514G>C (p.Gly4838=)
| |
| 1 | g.215648596C>T | CA423425538 | USH2A | c.14514G>A (p.Gly4838=)
| 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 |