Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224028G>A | CA516820848 | GJB1 | c.321G>A (p.Arg107=) | dbSNP gnomAD v4 |
X | g.71224028G>C | CA516820849 | GJB1 | c.321G>C (p.Arg107=) | |
X | g.71224028G= | CA2436388303 | GJB1 | c.321G= (p.Arg107=) | |
X | g.71224028G>T | CA516820850 | GJB1 | c.321G>T (p.Arg107=) | |
X | g.71224028_71224029insTG | CA2562517199 | GJB1 | c.321_322insTG (p.Leu108CysfsTer14) | |
X | g.71224029C>A | CA413501914 | GJB1 | c.322C>A (p.Leu108Ile) | |
X | g.71224029C= | CA2436388304 | GJB1 | c.322C= (p.Leu108=) | |
X | g.71224029C>G | CA413501915 | GJB1 | c.322C>G (p.Leu108Val) | |
X | g.71224029C>T | CA413501917 | GJB1 | c.322C>T (p.Leu108Phe) | |
X | g.71224030T>A | CA413501919 | GJB1 | c.323T>A (p.Leu108His) | |
X | g.71224030T>C | CA413501920 | GJB1 | c.323T>C (p.Leu108Pro) | ClinVar dbSNP |
X | g.71224030T>G | CA413501922 | GJB1 | c.323T>G (p.Leu108Arg) | |
X | g.71224030T= | CA2436388305 | GJB1 | c.323T= (p.Leu108=) | |
X | g.71224031dup | CA658799791 | GJB1 | c.324dup (p.Glu109Ter) | ClinVar dbSNP |
X | g.71224031T>A | CA516820851 | GJB1 | c.324T>A (p.Leu108=) | |
X | g.71224031T>C | CA516820852 | GJB1 | c.324T>C (p.Leu108=) | |
X | g.71224031T>G | CA516820853 | GJB1 | c.324T>G (p.Leu108=) | |
X | g.71224032G>A | CA413501923 | GJB1 | c.325G>A (p.Glu109Lys) | gnomAD v4 |
X | g.71224032G>C | CA413501924 | GJB1 | c.325G>C (p.Glu109Gln) | |
X | g.71224032G= | CA2436388306 | GJB1 | c.325G= (p.Glu109=) | |
X | g.71224032G>T | CA10445293 | GJB1 | c.325G>T (p.Glu109Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224033A>C | CA413501925 | GJB1 | c.326A>C (p.Glu109Ala) | |
X | g.71224033A>G | CA413501926 | GJB1 | c.326A>G (p.Glu109Gly) | |
X | g.71224033A>T | CA413501927 | GJB1 | c.326A>T (p.Glu109Val) | |
X | g.71224034G>A | CA516820854 | GJB1 | c.327G>A (p.Glu109=) | ClinVar |
X | g.71224034G>C | CA413501928 | GJB1 | c.327G>C (p.Glu109Asp) | |
X | g.71224034G>T | CA413501929 | GJB1 | c.327G>T (p.Glu109Asp) | |
X | g.71224035G>A | CA413501931 | GJB1 | c.328G>A (p.Gly110Ser) | |
X | g.71224035G>C | CA413501932 | GJB1 | c.328G>C (p.Gly110Arg) | |
X | g.71224035G>T | CA413501930 | GJB1 | c.328G>T (p.Gly110Cys) | |
X | g.71224036G>A | CA413501934 | GJB1 | c.329G>A (p.Gly110Asp) | ClinVar dbSNP |
X | g.71224036G>C | CA413501933 | GJB1 | c.329G>C (p.Gly110Ala) | COSMIC |
X | g.71224036G= | CA2436388307 | GJB1 | c.329G= (p.Gly110=) | |
X | g.71224036G>T | CA413501935 | GJB1 | c.329G>T (p.Gly110Val) | ClinVar |
X | g.71224036_71224054delinsGCCATGGGGACCCCCTACA | CA2436388308 | GJB1 | c.329_347delinsGCCATGGGGACCCCCTACA (p.Gly110=) | |
X | g.71224037C>A | CA516820857 | GJB1 | c.330C>A (p.Gly110=) | gnomAD v4 |
X | g.71224037C= | CA2436388309 | GJB1 | c.330C= (p.Gly110=) | |
X | g.71224037C>G | CA516820856 | GJB1 | c.330C>G (p.Gly110=) | dbSNP |
X | g.71224037C>T | CA516820855 | GJB1 | c.330C>T (p.Gly110=) | |
X | g.71224039_71224056del | CA915951193 | GJB1 | c.332_349del (p.His111_His116del) | ClinVar dbSNP |
X | g.71224038C>A | CA413501936 | GJB1 | c.331C>A (p.His111Asn) | |
X | g.71224038C>G | CA413501937 | GJB1 | c.331C>G (p.His111Asp) | |
X | g.71224038C>T | CA413501938 | GJB1 | c.331C>T (p.His111Tyr) | gnomAD v4 |
X | g.71224039A>C | CA413501939 | GJB1 | c.332A>C (p.His111Pro) | |
X | g.71224039A>G | CA413501940 | GJB1 | c.332A>G (p.His111Arg) | gnomAD v4 |
X | g.71224039A>T | CA413501941 | GJB1 | c.332A>T (p.His111Leu) | |
X | g.71224040T>A | CA413501943 | GJB1 | c.333T>A (p.His111Gln) | |
X | g.71224040T>C | CA516820858 | GJB1 | c.333T>C (p.His111=) | |
X | g.71224040T>G | CA413501942 | GJB1 | c.333T>G (p.His111Gln) | |
X | g.71224041G>A | CA413501944 | GJB1 | c.334G>A (p.Gly112Arg) |