Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223843G>A | CA413501073 | GJB1 | c.136G>A (p.Asp46Asn) | ClinVar |
X | g.71223843G>C | CA413501075 | GJB1 | c.136G>C (p.Asp46His) | |
X | g.71223843G>T | CA413501077 | GJB1 | c.136G>T (p.Asp46Tyr) | |
X | g.71223844A= | CA2436388175 | GJB1 | c.137A= (p.Asp46=) | |
X | g.71223844A>C | CA413501084 | GJB1 | c.137A>C (p.Asp46Ala) | |
X | g.71223844A>G | CA413501083 | GJB1 | c.137A>G (p.Asp46Gly) | ClinVar dbSNP |
X | g.71223844A>T | CA413501081 | GJB1 | c.137A>T (p.Asp46Val) | ClinVar dbSNP |
X | g.71223845T>A | CA413501085 | GJB1 | c.138T>A (p.Asp46Glu) | |
X | g.71223845T>C | CA516821202 | GJB1 | c.138T>C (p.Asp46=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.71223845T>G | CA413501086 | GJB1 | c.138T>G (p.Asp46Glu) | ClinVar dbSNP gnomAD v4 |
X | g.71223845T= | CA2436388176 | GJB1 | c.138T= (p.Asp46=) | |
X | g.71223846G>A | CA413501088 | GJB1 | c.139G>A (p.Glu47Lys) | ClinVar dbSNP |
X | g.71223846G>C | CA413501092 | GJB1 | c.139G>C (p.Glu47Gln) | |
X | g.71223846G= | CA2436388177 | GJB1 | c.139G= (p.Glu47=) | |
X | g.71223846G>T | CA413501093 | GJB1 | c.139G>T (p.Glu47Ter) | |
X | g.71223847A= | CA2436388178 | GJB1 | c.140A= (p.Glu47=) | |
X | g.71223847A>C | CA413501095 | GJB1 | c.140A>C (p.Glu47Ala) | |
X | g.71223847A>G | CA413501096 | GJB1 | c.140A>G (p.Glu47Gly) | ClinVar dbSNP |
X | g.71223847A>T | CA413501098 | GJB1 | c.140A>T (p.Glu47Val) | ClinVar dbSNP |
X | g.71223848_71223850dup | CA915951181 | GJB1 | c.141_143dup (p.Lys48_Ser49insLys) | ClinVar dbSNP |
X | g.71223848G>A | CA516821206 | GJB1 | c.141G>A (p.Glu47=) | gnomAD v4 |
X | g.71223848G>C | CA413501100 | GJB1 | c.141G>C (p.Glu47Asp) | |
X | g.71223848G>T | CA413501103 | GJB1 | c.141G>T (p.Glu47Asp) | |
X | g.71223849A>C | CA413501105 | GJB1 | c.142A>C (p.Lys48Gln) | |
X | g.71223849A>G | CA413501106 | GJB1 | c.142A>G (p.Lys48Glu) | |
X | g.71223849A>T | CA413501109 | GJB1 | c.142A>T (p.Lys48Ter) | |
X | g.71223850A>C | CA413501115 | GJB1 | c.143A>C (p.Lys48Thr) | |
X | g.71223850A>G | CA413501117 | GJB1 | c.143A>G (p.Lys48Arg) | |
X | g.71223850A>T | CA413501112 | GJB1 | c.143A>T (p.Lys48Ile) | |
X | g.71223851A= | CA2436388179 | GJB1 | c.144A= (p.Lys48=) | |
X | g.71223851A>C | CA413501119 | GJB1 | c.144A>C (p.Lys48Asn) | |
X | g.71223851A>G | CA516821209 | GJB1 | c.144A>G (p.Lys48=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.71223851A>T | CA413501122 | GJB1 | c.144A>T (p.Lys48Asn) | |
X | g.71223852T>A | CA413501125 | GJB1 | c.145T>A (p.Ser49Thr) | |
X | g.71223852T>C | CA341595 | GJB1 | c.145T>C (p.Ser49Pro) | ClinVar dbSNP |
X | g.71223852T>G | CA413501126 | GJB1 | c.145T>G (p.Ser49Ala) | |
X | g.71223852T= | CA2436388180 | GJB1 | c.145T= (p.Ser49=) | |
X | g.71223853C>A | CA413501127 | GJB1 | c.146C>A (p.Ser49Tyr) | ClinVar dbSNP |
X | g.71223853C= | CA2436388181 | GJB1 | c.146C= (p.Ser49=) | |
X | g.71223853C>G | CA413501128 | GJB1 | c.146C>G (p.Ser49Cys) | |
X | g.71223853C>T | CA413501130 | GJB1 | c.146C>T (p.Ser49Phe) | |
X | g.71223854T>A | CA516821211 | GJB1 | c.147T>A (p.Ser49=) | |
X | g.71223854T>C | CA516821212 | GJB1 | c.147T>C (p.Ser49=) | ClinVar dbSNP COSMIC |
X | g.71223854T>G | CA516821213 | GJB1 | c.147T>G (p.Ser49=) | |
X | g.71223854T= | CA2436388182 | GJB1 | c.147T= (p.Ser49=) | |
X | g.71223855T>A | CA413501134 | GJB1 | c.148T>A (p.Ser50Thr) | |
X | g.71223855T>C | CA413501135 | GJB1 | c.148T>C (p.Ser50Pro) | ClinVar dbSNP |
X | g.71223855T>G | CA330997669 | GJB1 | c.148T>G (p.Ser50Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.71223855T= | CA2436388183 | GJB1 | c.148T= (p.Ser50=) |