Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
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 |
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 |