Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215888957G>A | CA423314938 | USH2A | c.7692C>T (p.Thr2564=) | COSMIC COSMIC |
1 | g.215888957G>C | CA423314940 | USH2A | c.7692C>G (p.Thr2564=) | gnomAD v4 |
1 | g.215888957G= | CA1220463492 | USH2A | c.7692C= (p.Thr2564=) | |
1 | g.215888957G>T | CA423314939 | USH2A | c.7692C>A (p.Thr2564=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215888958G>A | CA344840960 | USH2A | c.7691C>T (p.Thr2564Ile) | |
1 | g.215888958G>C | CA344840961 | USH2A | c.7691C>G (p.Thr2564Ser) | |
1 | g.215888958G= | CA1220463495 | USH2A | c.7691C= (p.Thr2564=) | |
1 | g.215888958G>T | CA344840965 | USH2A | c.7691C>A (p.Thr2564Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215888959T>A | CA344840970 | USH2A | c.7690A>T (p.Thr2564Ser) | dbSNP |
1 | g.215888959T>C | CA344840972 | USH2A | c.7690A>G (p.Thr2564Ala) | COSMIC COSMIC |
1 | g.215888959T>G | CA1394764 | USH2A | c.7690A>C (p.Thr2564Pro) | dbSNP ExAC |
1 | g.215888959T= | CA1220463497 | USH2A | c.7690A= (p.Thr2564=) | |
1 | g.215888960A>C | CA344840978 | USH2A | c.7689T>G (p.Ile2563Met) | gnomAD v4 |
1 | g.215888960A>G | CA423314941 | USH2A | c.7689T>C (p.Ile2563=) | |
1 | g.215888960A>T | CA423314942 | USH2A | c.7689T>A (p.Ile2563=) | |
1 | g.215888961A>C | CA344840989 | USH2A | c.7688T>G (p.Ile2563Ser) | |
1 | g.215888961A>G | CA344840993 | USH2A | c.7688T>C (p.Ile2563Thr) | |
1 | g.215888961A>T | CA344840983 | USH2A | c.7688T>A (p.Ile2563Asn) | |
1 | g.215888962T>A | CA344840998 | USH2A | c.7687A>T (p.Ile2563Phe) | |
1 | g.215888962T>C | CA344840997 | USH2A | c.7687A>G (p.Ile2563Val) | |
1 | g.215888962T>G | CA344840999 | USH2A | c.7687A>C (p.Ile2563Leu) | |
1 | g.215888963A>C | CA423314943 | USH2A | c.7686T>G (p.Val2562=) | ClinVar |
1 | g.215888963A>G | CA423314944 | USH2A | c.7686T>C (p.Val2562=) | |
1 | g.215888963A>T | CA423314945 | USH2A | c.7686T>A (p.Val2562=) | |
1 | g.215888964A= | CA1140643173 | USH2A | c.7685T= (p.Val2562=) | |
1 | g.215888964A>C | CA344841002 | USH2A | c.7685T>G (p.Val2562Gly) | |
1 | g.215888964A>G | CA143607 | USH2A | c.7685T>C (p.Val2562Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215888964A>T | CA344841023 | USH2A | c.7685T>A (p.Val2562Asp) | |
1 | g.215888965C>A | CA143605 | USH2A | c.7684G>T (p.Val2562Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215888965C= | CA1144229169 | USH2A | c.7684G= (p.Val2562=) | |
1 | g.215888965C>G | CA37442891 | USH2A | c.7684G>C (p.Val2562Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215888965C>T | CA344841040 | USH2A | c.7684G>A (p.Val2562Ile) | gnomAD v4 |
1 | g.215888968del | CA2650505366 | USH2A | c.7684del (p.Val2562LeufsTer15) | gnomAD v4 |
1 | g.215888966C>A | CA423314946 | USH2A | c.7683G>T (p.Gly2561=) | |
1 | g.215888966C>G | CA423314947 | USH2A | c.7683G>C (p.Gly2561=) | |
1 | g.215888966C>T | CA423314948 | USH2A | c.7683G>A (p.Gly2561=) | ClinVar |
1 | g.215888967C>A | CA344841053 | USH2A | c.7682G>T (p.Gly2561Val) | |
1 | g.215888967C= | CA1220463508 | USH2A | c.7682G= (p.Gly2561=) | |
1 | g.215888967C>G | CA344841055 | USH2A | c.7682G>C (p.Gly2561Ala) | dbSNP gnomAD v4 |
1 | g.215888967C>T | CA344841061 | USH2A | c.7682G>A (p.Gly2561Glu) | gnomAD v4 |
1 | g.215888968C>A | CA344841068 | USH2A | c.7681G>T (p.Gly2561Trp) | |
1 | g.215888968C= | CA1220463514 | USH2A | c.7681G= (p.Gly2561=) | |
1 | g.215888968C>G | CA344841074 | USH2A | c.7681G>C (p.Gly2561Arg) | |
1 | g.215888968C>T | CA1394765 | USH2A | c.7681G>A (p.Gly2561Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215888969A>C | CA344841077 | USH2A | c.7680T>G (p.Asn2560Lys) | |
1 | g.215888969A>G | CA423314949 | USH2A | c.7680T>C (p.Asn2560=) | |
1 | g.215888969A>T | CA344841076 | USH2A | c.7680T>A (p.Asn2560Lys) | gnomAD v4 |
1 | g.215888970T>A | CA344841082 | USH2A | c.7679A>T (p.Asn2560Ile) | |
1 | g.215888970T>C | CA143601 | USH2A | c.7679A>G (p.Asn2560Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215888970T>G | CA344841087 | USH2A | c.7679A>C (p.Asn2560Thr) |