Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216325358_216325411dup | CA916082151 | USH2A | c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr) | ClinVar dbSNP |
1 | g.216325399A>C | CA344912365 | USH2A | c.1049T>G (p.Val350Gly) | |
1 | g.216325399A>G | CA344912364 | USH2A | c.1049T>C (p.Val350Ala) | |
1 | g.216325399A>T | CA344912363 | USH2A | c.1049T>A (p.Val350Asp) | |
1 | g.216325400C>A | CA344912366 | USH2A | c.1048G>T (p.Val350Phe) | |
1 | g.216325400C= | CA1142266154 | USH2A | c.1048G= (p.Val350=) | |
1 | g.216325400C>G | CA344912367 | USH2A | c.1048G>C (p.Val350Leu) | |
1 | g.216325400C>T | CA1396614 | USH2A | c.1048G>A (p.Val350Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325401A= | CA1220652926 | USH2A | c.1047T= (p.Asp349=) | |
1 | g.216325401A>C | CA344912368 | USH2A | c.1047T>G (p.Asp349Glu) | |
1 | g.216325401A>G | CA1396615 | USH2A | c.1047T>C (p.Asp349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216325401A>T | CA344912369 | USH2A | c.1047T>A (p.Asp349Glu) | gnomAD v4 |
1 | g.216325402T>A | CA344912372 | USH2A | c.1046A>T (p.Asp349Val) | |
1 | g.216325402T>C | CA344912371 | USH2A | c.1046A>G (p.Asp349Gly) | COSMIC COSMIC COSMIC |
1 | g.216325402T>G | CA344912370 | USH2A | c.1046A>C (p.Asp349Ala) | |
1 | g.216325403C>A | CA344912373 | USH2A | c.1045G>T (p.Asp349Tyr) | |
1 | g.216325403C= | CA1220652927 | USH2A | c.1045G= (p.Asp349=) | |
1 | g.216325403C>G | CA344912374 | USH2A | c.1045G>C (p.Asp349His) | |
1 | g.216325403C>T | CA37898653 | USH2A | c.1045G>A (p.Asp349Asn) | dbSNP |
1 | g.216325403_216325406delinsCATT | CA1220652928 | USH2A | c.1042_1045delinsAATG (p.Asn348=) | |
1 | g.216325404A= | CA1220652929 | USH2A | c.1044T= (p.Asn348=) | |
1 | g.216325404A>C | CA344912375 | USH2A | c.1044T>G (p.Asn348Lys) | |
1 | g.216325404A>G | CA423434842 | USH2A | c.1044T>C (p.Asn348=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325404A>T | CA344912376 | USH2A | c.1044T>A (p.Asn348Lys) | |
1 | g.216325406_216325408del | CA529004263 | USH2A | c.1042_1044del (p.Asn348del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216325405T>A | CA344912377 | USH2A | c.1043A>T (p.Asn348Ile) | |
1 | g.216325405T>C | CA344912378 | USH2A | c.1043A>G (p.Asn348Ser) | |
1 | g.216325405T>G | CA344912379 | USH2A | c.1043A>C (p.Asn348Thr) | |
1 | g.216325406T>A | CA344912380 | USH2A | c.1042A>T (p.Asn348Tyr) | |
1 | g.216325406T>C | CA344912381 | USH2A | c.1042A>G (p.Asn348Asp) | |
1 | g.216325406T>G | CA344912382 | USH2A | c.1042A>C (p.Asn348His) | |
1 | g.216325406_216325409del | CA913072835 | USH2A | c.1039_1042del (p.Asp347MetfsTer22) | |
1 | g.216325406_216325409delinsTATC | CA1220652930 | USH2A | c.1039_1042delinsGATA (p.Asp347=) | |
1 | g.216325407A>C | CA344912383 | USH2A | c.1041T>G (p.Asp347Glu) | |
1 | g.216325407A>G | CA423434845 | USH2A | c.1041T>C (p.Asp347=) | ClinVar dbSNP |
1 | g.216325407A>T | CA344912384 | USH2A | c.1041T>A (p.Asp347Glu) | |
1 | g.216325409_216325411del | CA658822981 | USH2A | c.1039_1041del (p.Asp347del) | ClinVar dbSNP |
1 | g.216325408T>A | CA344912386 | USH2A | c.1040A>T (p.Asp347Val) | |
1 | g.216325408T>C | CA1396616 | USH2A | c.1040A>G (p.Asp347Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325408T>G | CA344912385 | USH2A | c.1040A>C (p.Asp347Ala) | |
1 | g.216325408T= | CA1220652931 | USH2A | c.1040A= (p.Asp347=) | |
1 | g.216325409C>A | CA344912387 | USH2A | c.1039G>T (p.Asp347Tyr) | dbSNP |
1 | g.216325409C= | CA1220652932 | USH2A | c.1039G= (p.Asp347=) | |
1 | g.216325409C>G | CA1396617 | USH2A | c.1039G>C (p.Asp347His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216325409C>T | CA344912388 | USH2A | c.1039G>A (p.Asp347Asn) | |
1 | g.216325410A>C | CA344912389 | USH2A | c.1038T>G (p.Asn346Lys) | |
1 | g.216325410A>G | CA423434847 | USH2A | c.1038T>C (p.Asn346=) | |
1 | g.216325410A>T | CA344912390 | USH2A | c.1038T>A (p.Asn346Lys) | |
1 | g.216325411T>A | CA344912391 | USH2A | c.1037A>T (p.Asn346Ile) | |
1 | g.216325411T>C | CA1396618 | USH2A | c.1037A>G (p.Asn346Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |