| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223796_71223801dup | CA2695234558 | GJB1 | c.89_94dup (p.Phe31_Arg32insIlePhe) | |
| X | g.71223801A= | CA2436388141 | GJB1 | c.94A= (p.Arg32=) | |
| X | g.71223801A>C | CA516821119 | GJB1 | c.94A>C (p.Arg32=) | |
| X | g.71223801A>G | CA413500880 | GJB1 | c.94A>G (p.Arg32Gly) | ClinVar dbSNP |
| X | g.71223801A>T | CA413500882 | GJB1 | c.94A>T (p.Arg32Ter) | |
| X | g.71223802G>A | CA413500892 | GJB1 | c.95G>A (p.Arg32Lys) | ClinVar |
| X | g.71223802G>C | CA413500894 | GJB1 | c.95G>C (p.Arg32Thr) | |
| X | g.71223802G>T | CA413500896 | GJB1 | c.95G>T (p.Arg32Ile) | |
| X | g.71223803A>C | CA413500899 | GJB1 | c.96A>C (p.Arg32Ser) | |
| X | g.71223803A>G | CA516821123 | GJB1 | c.96A>G (p.Arg32=) | gnomAD v4 |
| X | g.71223803A>T | CA413500901 | GJB1 | c.96A>T (p.Arg32Ser) | |
| X | g.71223804A>C | CA413500904 | GJB1 | c.97A>C (p.Ile33Leu) | |
| X | g.71223804A>G | CA413500907 | GJB1 | c.97A>G (p.Ile33Val) | |
| X | g.71223804A>T | CA413500913 | GJB1 | c.97A>T (p.Ile33Phe) | |
| X | g.71223805T>A | CA413500920 | GJB1 | c.98T>A (p.Ile33Asn) | ClinVar dbSNP |
| X | g.71223805T>C | CA413500918 | GJB1 | c.98T>C (p.Ile33Thr) | |
| X | g.71223805T>G | CA413500916 | GJB1 | c.98T>G (p.Ile33Ser) | |
| X | g.71223805T= | CA2436388142 | GJB1 | c.98T= (p.Ile33=) | |
| X | g.71223806C>A | CA516821125 | GJB1 | c.99C>A (p.Ile33=) | |
| X | g.71223806C= | CA2436388143 | GJB1 | c.99C= (p.Ile33=) | |
| X | g.71223806C>G | CA413500922 | GJB1 | c.99C>G (p.Ile33Met) | |
| X | g.71223806C>T | CA516821126 | GJB1 | c.99C>T (p.Ile33=) | ClinVar dbSNP |
| X | g.71223806_71223810dup | CA915951175 | GJB1 | c.99_103dup (p.Val35AlafsTer?) | ClinVar dbSNP |
| X | g.71223807A= | CA2436388144 | GJB1 | c.100A= (p.Met34=) | |
| X | g.71223807A>C | CA413500924 | GJB1 | c.100A>C (p.Met34Leu) | |
| X | g.71223807A>G | CA413500925 | GJB1 | c.100A>G (p.Met34Val) | ClinVar dbSNP |
| X | g.71223807A>T | CA413500926 | GJB1 | c.100A>T (p.Met34Leu) | |
| X | g.71223808T>A | CA413500927 | GJB1 | c.101T>A (p.Met34Lys) | ClinVar dbSNP |
| X | g.71223808T>C | CA16616534 | GJB1 | c.101T>C (p.Met34Thr) | ClinVar dbSNP |
| X | g.71223808T>G | CA413500929 | GJB1 | c.101T>G (p.Met34Arg) | |
| X | g.71223808T= | CA2436388145 | GJB1 | c.101T= (p.Met34=) | |
| X | g.71223809G>A | CA16616704 | GJB1 | c.102G>A (p.Met34Ile) | ClinVar dbSNP |
| X | g.71223809G>C | CA413500932 | GJB1 | c.102G>C (p.Met34Ile) | |
| X | g.71223809G= | CA2436388146 | GJB1 | c.102G= (p.Met34=) | |
| X | g.71223809G>T | CA413500934 | GJB1 | c.102G>T (p.Met34Ile) | |
| X | g.71223810G>A | CA413500937 | GJB1 | c.103G>A (p.Val35Met) | ClinVar dbSNP |
| X | g.71223810G>C | CA413500938 | GJB1 | c.103G>C (p.Val35Leu) | |
| X | g.71223810G= | CA2436388147 | GJB1 | c.103G= (p.Val35=) | |
| X | g.71223810G>T | CA413500939 | GJB1 | c.103G>T (p.Val35Leu) | |
| X | g.71223811T>A | CA413500943 | GJB1 | c.104T>A (p.Val35Glu) | |
| X | g.71223811T>C | CA413500940 | GJB1 | c.104T>C (p.Val35Ala) | |
| X | g.71223811T>G | CA413500941 | GJB1 | c.104T>G (p.Val35Gly) | |
| X | g.71223812G>A | CA516821134 | GJB1 | c.105G>A (p.Val35=) | gnomAD v4 |
| X | g.71223812G>C | CA516821135 | GJB1 | c.105G>C (p.Val35=) | |
| X | g.71223812G>T | CA516821137 | GJB1 | c.105G>T (p.Val35=) | |
| X | g.71223813C>A | CA413500945 | GJB1 | c.106C>A (p.Leu36Met) | |
| X | g.71223813C= | CA2436388148 | GJB1 | c.106C= (p.Leu36=) | |
| X | g.71223813C>G | CA413500946 | GJB1 | c.106C>G (p.Leu36Val) | ClinVar dbSNP |
| X | g.71223813C>T | CA516821141 | GJB1 | c.106C>T (p.Leu36=) | COSMIC |