| 1 | g.215647502_215648786del | CA3260665404 | USH2A | c.14344-20_14791+20del
| |
| 1 | g.215648674_215648702del | CA3054205787 | USH2A | c.14409_14437del (p.Ile4803MetfsTer9)
| ClinVar |
| 1 | g.215648681_215648705del | CA2697554898 | USH2A | c.14407_14431del (p.Ile4803SerfsTer12)
| ClinVar dbSNP |
| 1 | g.215648689_215648702delinsGGCCTCTACTCCAA | CA1220363204 | USH2A | c.14408_14421delinsTTGGAGTAGAGGCC (p.Ile4803=)
| |
| 1 | g.215648690_215648702del | CA1012188225 | USH2A | c.14408_14420del (p.Ile4803ThrfsTer16)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648690_215648703delinsTGA | CA2580617945 | USH2A | c.14407_14420delinsTCA (p.Ile4803SerfsTer15)
| ClinVar dbSNP |
| 1 | g.215648694C>A | CA344833907 | USH2A | c.14416G>T (p.Glu4806Ter)
| |
| 1 | g.215648694C>G | CA344833909 | USH2A | c.14416G>C (p.Glu4806Gln)
| |
| 1 | g.215648694C>T | CA344833911 | USH2A | c.14416G>A (p.Glu4806Lys)
| |
| 1 | g.215648695T>A | CA423425679 | USH2A | c.14415A>T (p.Val4805=)
| |
| 1 | g.215648695T>C | CA423425680 | USH2A | c.14415A>G (p.Val4805=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648695T>G | CA423425682 | USH2A | c.14415A>C (p.Val4805=)
| |
| 1 | g.215648695T= | CA1220363206 | USH2A | c.14415A= (p.Val4805=)
| dbSNP |
| 1 | g.215648696A>C | CA344833913 | USH2A | c.14414T>G (p.Val4805Gly)
| |
| 1 | g.215648696A>G | CA344833915 | USH2A | c.14414T>C (p.Val4805Ala)
| |
| 1 | g.215648696A>T | CA344833917 | USH2A | c.14414T>A (p.Val4805Glu)
| |
| 1 | g.215648697C>A | CA344833926 | USH2A | c.14413G>T (p.Val4805Leu)
| ClinVar dbSNP |
| 1 | g.215648697C= | CA1142185011 | USH2A | c.14413G= (p.Val4805=)
| dbSNP |
| 1 | g.215648697C>G | CA344833924 | USH2A | c.14413G>C (p.Val4805Leu)
| |
| 1 | g.215648697C>T | CA1393022 | USH2A | c.14413G>A (p.Val4805Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215648698T>A | CA423425684 | USH2A | c.14412A>T (p.Gly4804=)
| |
| 1 | g.215648698T>C | CA423425683 | USH2A | c.14412A>G (p.Gly4804=)
| dbSNP gnomAD v4 |
| 1 | g.215648698T>G | CA423425685 | USH2A | c.14412A>C (p.Gly4804=)
| dbSNP gnomAD v4 |
| 1 | g.215648698T= | CA3077339287 | USH2A | c.14412A= (p.Gly4804=)
| dbSNP |
| 1 | g.215648699C>A | CA344833929 | USH2A | c.14411G>T (p.Gly4804Val)
| dbSNP gnomAD v4 |
| 1 | g.215648699C= | CA3077339291 | USH2A | c.14411G= (p.Gly4804=)
| dbSNP |
| 1 | g.215648699C>G | CA344833935 | USH2A | c.14411G>C (p.Gly4804Ala)
| |
| 1 | g.215648699C>T | CA344833930 | USH2A | c.14411G>A (p.Gly4804Glu)
| |
| 1 | g.215648700C>A | CA344833937 | USH2A | c.14410G>T (p.Gly4804Ter)
| COSMIC COSMIC |
| 1 | g.215648700C>G | CA344833941 | USH2A | c.14410G>C (p.Gly4804Arg)
| |
| 1 | g.215648700C>T | CA344833939 | USH2A | c.14410G>A (p.Gly4804Arg)
| |
| 1 | g.215648701A>C | CA344833943 | USH2A | c.14409T>G (p.Ile4803Met)
| |
| 1 | g.215648701A>G | CA423425686 | USH2A | c.14409T>C (p.Ile4803=)
| |
| 1 | g.215648701A>T | CA423425687 | USH2A | c.14409T>A (p.Ile4803=)
| |
| 1 | g.215648702A= | CA1220363207 | USH2A | c.14408T= (p.Ile4803=)
| dbSNP |
| 1 | g.215648702A>C | CA344833946 | USH2A | c.14408T>G (p.Ile4803Ser)
| |
| 1 | g.215648702A>G | CA37390402 | USH2A | c.14408T>C (p.Ile4803Thr)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215648702A>T | CA344833951 | USH2A | c.14408T>A (p.Ile4803Asn)
| |
| 1 | g.215648703T>A | CA344833953 | USH2A | c.14407A>T (p.Ile4803Phe)
| |
| 1 | g.215648703T>C | CA1393023 | USH2A | c.14407A>G (p.Ile4803Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215648703T>G | CA344833956 | USH2A | c.14407A>C (p.Ile4803Leu)
| |
| 1 | g.215648703T= | CA1220363208 | USH2A | c.14407A= (p.Ile4803=)
| dbSNP |
| 1 | g.215648703_215648704insGA | CA1012188254 | USH2A | c.14406_14407insTC (p.Ile4803SerfsTer4)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648704A= | CA3077339299 | USH2A | c.14406T= (p.Ser4802=)
| dbSNP |
| 1 | g.215648704A>C | CA423425689 | USH2A | c.14406T>G (p.Ser4802=)
| |
| 1 | g.215648704A>G | CA423425690 | USH2A | c.14406T>C (p.Ser4802=)
| dbSNP gnomAD v4 |
| 1 | g.215648704A>T | CA423425693 | USH2A | c.14406T>A (p.Ser4802=)
| |
| 1 | g.215648705G>A | CA1393024 | USH2A | c.14405C>T (p.Ser4802Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215648705G>C | CA344833957 | USH2A | c.14405C>G (p.Ser4802Cys)
| |
| 1 | g.215648705G= | CA1220363209 | USH2A | c.14405C= (p.Ser4802=)
| dbSNP |
