| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223806_71223810dup | CA915951175 | GJB1 | c.99_103dup (p.Val35AlafsTer?) | ClinVar dbSNP |
| 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 |
| X | g.71223814T>A | CA413500948 | GJB1 | c.107T>A (p.Leu36Gln) | |
| X | g.71223814T>C | CA413500951 | GJB1 | c.107T>C (p.Leu36Pro) | ClinVar dbSNP |
| X | g.71223814T>G | CA413500952 | GJB1 | c.107T>G (p.Leu36Arg) | |
| X | g.71223814T= | CA2436388149 | GJB1 | c.107T= (p.Leu36=) | |
| X | g.71223815G>A | CA516821144 | GJB1 | c.108G>A (p.Leu36=) | |
| X | g.71223815G>C | CA10445278 | GJB1 | c.108G>C (p.Leu36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223815G= | CA2436388150 | GJB1 | c.108G= (p.Leu36=) | |
| X | g.71223815G>T | CA516821145 | GJB1 | c.108G>T (p.Leu36=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223816G>A | CA413500955 | GJB1 | c.109G>A (p.Val37Met) | ClinVar dbSNP |
| X | g.71223816G>C | CA413500957 | GJB1 | c.109G>C (p.Val37Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71223816G= | CA2436388151 | GJB1 | c.109G= (p.Val37=) | |
| X | g.71223816G>T | CA16043599 | GJB1 | c.109G>T (p.Val37Leu) | ClinVar dbSNP |
| X | g.71223816_71223817delinsGT | CA2436388152 | GJB1 | c.109_110delinsGT (p.Val37=) | |
| X | g.71223817del | CA915951176 | GJB1 | c.110del (p.Val37GlyfsTer?) | ClinVar dbSNP |
| X | g.71223817T>A | CA413500959 | GJB1 | c.110T>A (p.Val37Glu) | ClinVar |
| X | g.71223817T>C | CA413500961 | GJB1 | c.110T>C (p.Val37Ala) | |
| X | g.71223817T>G | CA413500963 | GJB1 | c.110T>G (p.Val37Gly) | |
| X | g.71223817T= | CA2436388153 | GJB1 | c.110T= (p.Val37=) | |
| X | g.71223818G>A | CA516821151 | GJB1 | c.111G>A (p.Val37=) | dbSNP |
| X | g.71223818G>C | CA516821152 | GJB1 | c.111G>C (p.Val37=) | |
| X | g.71223818G= | CA2436388154 | GJB1 | c.111G= (p.Val37=) | |
| X | g.71223818G>T | CA516821154 | GJB1 | c.111G>T (p.Val37=) | |
| X | g.71223818_71223819dup | CA1139667644 | GJB1 | c.111_112dup (p.Val38GlyfsTer?) | ClinVar dbSNP |
| X | g.71223819G>A | CA10584634 | GJB1 | c.112G>A (p.Val38Met) | ClinVar dbSNP |
| X | g.71223819G>C | CA413500966 | GJB1 | c.112G>C (p.Val38Leu) | |
| X | g.71223819G= | CA2436388155 | GJB1 | c.112G= (p.Val38=) | |
| X | g.71223819G>T | CA413500964 | GJB1 | c.112G>T (p.Val38Leu) | |
| X | g.71223820T>A | CA413500968 | GJB1 | c.113T>A (p.Val38Glu) | |
| X | g.71223820T>C | CA413500975 | GJB1 | c.113T>C (p.Val38Ala) | ClinVar dbSNP |
| X | g.71223820T>G | CA338636 | GJB1 | c.113T>G (p.Val38Gly) | ClinVar dbSNP |