Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223834G>A | CA413501026 | GJB1 | c.127G>A (p.Val43Met) | ClinVar dbSNP |
X | g.71223834G>C | CA413501027 | GJB1 | c.127G>C (p.Val43Leu) | ClinVar dbSNP |
X | g.71223834G= | CA2436388170 | GJB1 | c.127G= (p.Val43=) | |
X | g.71223834G>T | CA413501028 | GJB1 | c.127G>T (p.Val43Leu) | |
X | g.71223835T>A | CA413501030 | GJB1 | c.128T>A (p.Val43Glu) | ClinVar dbSNP |
X | g.71223835T>C | CA413501032 | GJB1 | c.128T>C (p.Val43Ala) | |
X | g.71223835T>G | CA413501033 | GJB1 | c.128T>G (p.Val43Gly) | |
X | g.71223835T= | CA2436388171 | GJB1 | c.128T= (p.Val43=) | |
X | g.71223835dup | CA2832528829 | GJB1 | c.128dup (p.Trp44ValfsTer3) | |
X | g.71223836G>A | CA516821187 | GJB1 | c.129G>A (p.Val43=) | ClinVar dbSNP |
X | g.71223836G>C | CA516821188 | GJB1 | c.129G>C (p.Val43=) | |
X | g.71223836G>T | CA516821190 | GJB1 | c.129G>T (p.Val43=) | |
X | g.71223837T>A | CA413501040 | GJB1 | c.130T>A (p.Trp44Arg) | |
X | g.71223837T>C | CA413501042 | GJB1 | c.130T>C (p.Trp44Arg) | |
X | g.71223837T>G | CA413501044 | GJB1 | c.130T>G (p.Trp44Gly) | |
X | g.71223838G>A | CA10581119 | GJB1 | c.131G>A (p.Trp44Ter) | ClinVar dbSNP |
X | g.71223838G>C | CA413501049 | GJB1 | c.131G>C (p.Trp44Ser) | |
X | g.71223838G= | CA2436388172 | GJB1 | c.131G= (p.Trp44=) | |
X | g.71223838G>T | CA413501047 | GJB1 | c.131G>T (p.Trp44Leu) | ClinVar dbSNP |
X | g.71223841dup | CA2697553165 | GJB1 | c.134dup (p.Asp46Ter) | ClinVar |
X | g.71223841del | CA2695234560 | GJB1 | c.134del (p.Gly45ValfsTer?) | |
X | g.71223839G>A | CA413501057 | GJB1 | c.132G>A (p.Trp44Ter) | ClinVar dbSNP COSMIC |
X | g.71223839G>C | CA10584635 | GJB1 | c.132G>C (p.Trp44Cys) | ClinVar dbSNP |
X | g.71223839G= | CA2436388173 | GJB1 | c.132G= (p.Trp44=) | |
X | g.71223839G>T | CA413501055 | GJB1 | c.132G>T (p.Trp44Cys) | COSMIC |
X | g.71223840G>A | CA413501060 | GJB1 | c.133G>A (p.Gly45Ser) | gnomAD v4 |
X | g.71223840G>C | CA413501062 | GJB1 | c.133G>C (p.Gly45Arg) | ClinVar |
X | g.71223840G>T | CA413501064 | GJB1 | c.133G>T (p.Gly45Cys) | |
X | g.71223841G>A | CA413501066 | GJB1 | c.134G>A (p.Gly45Asp) | gnomAD v4 |
X | g.71223841G>C | CA413501067 | GJB1 | c.134G>C (p.Gly45Ala) | |
X | g.71223841G>T | CA413501069 | GJB1 | c.134G>T (p.Gly45Val) | |
X | g.71223842T>A | CA516821195 | GJB1 | c.135T>A (p.Gly45=) | |
X | g.71223842T>C | CA516821197 | GJB1 | c.135T>C (p.Gly45=) | dbSNP gnomAD v3 |
X | g.71223842T>G | CA516821199 | GJB1 | c.135T>G (p.Gly45=) | ClinVar dbSNP |
X | g.71223842T= | CA2436388174 | GJB1 | c.135T= (p.Gly45=) | |
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=) |