Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223703G>T | CA2694032254 | GJB1 | c.-5G>T (n.-5G>T) | gnomAD v4 |
X | g.71223706G>A | CA2694032255 | GJB1 | c.-2G>A (n.-2G>A) | gnomAD v4 |
X | g.71223707G>C | CA2738735654 | GJB1 | c.-1G>C (n.-1G>C) | dbSNP |
X | g.71223707G>T | CA2502431822 | GJB1 | c.-1G>T (n.-1G>T) | gnomAD v4 |
X | g.71223708A= | CA2436388075 | GJB1 | c.1A= (p.Met1=) | |
X | g.71223708A>C | CA413499234 | GJB1 | c.1A>C (p.Met1Leu) | |
X | g.71223708A>G | CA413499238 | GJB1 | c.1A>G (p.Met1Val) | ClinVar |
X | g.71223708A>T | CA413499240 | GJB1 | c.1A>T (p.Met1Leu) | ClinVar dbSNP |
X | g.71223709T>A | CA413499247 | GJB1 | c.2T>A (p.Met1Lys) | ClinVar dbSNP |
X | g.71223709T>C | CA413499250 | GJB1 | c.2T>C (p.Met1Thr) | ClinVar dbSNP COSMIC |
X | g.71223709T>G | CA413499243 | GJB1 | c.2T>G (p.Met1Arg) | ClinVar dbSNP |
X | g.71223709T= | CA2436388076 | GJB1 | c.2T= (p.Met1=) | |
X | g.71223710G>A | CA413499255 | GJB1 | c.3G>A (p.Met1Ile) | |
X | g.71223710G>C | CA413499253 | GJB1 | c.3G>C (p.Met1Ile) | ClinVar |
X | g.71223710G= | CA2436388077 | GJB1 | c.3G= (p.Met1=) | |
X | g.71223710G>T | CA413499257 | GJB1 | c.3G>T (p.Met1Ile) | ClinVar dbSNP |
X | g.71223711A>C | CA413499259 | GJB1 | c.4A>C (p.Asn2His) | |
X | g.71223711A>G | CA413499262 | GJB1 | c.4A>G (p.Asn2Asp) | |
X | g.71223711A>T | CA413499260 | GJB1 | c.4A>T (p.Asn2Tyr) | |
X | g.71223712A>C | CA413499264 | GJB1 | c.5A>C (p.Asn2Thr) | |
X | g.71223712A>G | CA413499267 | GJB1 | c.5A>G (p.Asn2Ser) | ClinVar |
X | g.71223712A>T | CA413499269 | GJB1 | c.5A>T (p.Asn2Ile) | |
X | g.71223713C>A | CA413499271 | GJB1 | c.6C>A (p.Asn2Lys) | |
X | g.71223713C= | CA2436388078 | GJB1 | c.6C= (p.Asn2=) | |
X | g.71223713C>G | CA413499274 | GJB1 | c.6C>G (p.Asn2Lys) | ClinVar dbSNP |
X | g.71223713C>T | CA516718297 | GJB1 | c.6C>T (p.Asn2=) | dbSNP |
X | g.71223714T>A | CA413499276 | GJB1 | c.7T>A (p.Trp3Arg) | |
X | g.71223714T>C | CA413499277 | GJB1 | c.7T>C (p.Trp3Arg) | ClinVar dbSNP |
X | g.71223714T>G | CA413499279 | GJB1 | c.7T>G (p.Trp3Gly) | ClinVar dbSNP |
X | g.71223714T= | CA2436388079 | GJB1 | c.7T= (p.Trp3=) | |
X | g.71223715G>A | CA413499283 | GJB1 | c.8G>A (p.Trp3Ter) | ClinVar dbSNP |
X | g.71223715G>C | CA413499286 | GJB1 | c.8G>C (p.Trp3Ser) | ClinVar dbSNP |
X | g.71223715G= | CA2436388080 | GJB1 | c.8G= (p.Trp3=) | |
X | g.71223715G>T | CA413499288 | GJB1 | c.8G>T (p.Trp3Leu) | |
X | g.71223716G>A | CA338521 | GJB1 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
X | g.71223716G>C | CA413499293 | GJB1 | c.9G>C (p.Trp3Cys) | |
X | g.71223716G= | CA2436388081 | GJB1 | c.9G= (p.Trp3=) | |
X | g.71223716G>T | CA413499292 | GJB1 | c.9G>T (p.Trp3Cys) | |
X | g.71223717A>C | CA413499296 | GJB1 | c.10A>C (p.Thr4Pro) | |
X | g.71223717A>G | CA413499299 | GJB1 | c.10A>G (p.Thr4Ala) | |
X | g.71223717A>T | CA413499302 | GJB1 | c.10A>T (p.Thr4Ser) | |
X | g.71223718C>A | CA413499304 | GJB1 | c.11C>A (p.Thr4Lys) | ClinVar dbSNP |
X | g.71223718C= | CA2436388082 | GJB1 | c.11C= (p.Thr4=) | |
X | g.71223718C>G | CA413499306 | GJB1 | c.11C>G (p.Thr4Arg) | |
X | g.71223718C>T | CA413499309 | GJB1 | c.11C>T (p.Thr4Ile) | |
X | g.71223719A>C | CA516718338 | GJB1 | c.12A>C (p.Thr4=) | |
X | g.71223719A>G | CA516718349 | GJB1 | c.12A>G (p.Thr4=) | |
X | g.71223719A>T | CA516718342 | GJB1 | c.12A>T (p.Thr4=) | |
X | g.71223720G>A | CA413499312 | GJB1 | c.13G>A (p.Gly5Ser) | ClinVar dbSNP |