Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224129_71224130delinsTC | CA2436388358 | GJB1 | c.422_423delinsTC (p.Phe141=) | |
X | g.71224130C>A | CA413502345 | GJB1 | c.423C>A (p.Phe141Leu) | |
X | g.71224130C= | CA2436388359 | GJB1 | c.423C= (p.Phe141=) | |
X | g.71224130C>G | CA413502347 | GJB1 | c.423C>G (p.Phe141Leu) | ClinVar dbSNP |
X | g.71224130C>T | CA516820918 | GJB1 | c.423C>T (p.Phe141=) | ClinVar |
X | g.71224131del | CA915951199 | GJB1 | c.424del (p.Arg142GlyfsTer?) | ClinVar dbSNP |
X | g.71224131C>A | CA516820919 | GJB1 | c.424C>A (p.Arg142=) | |
X | g.71224131C= | CA2436388360 | GJB1 | c.424C= (p.Arg142=) | |
X | g.71224131C>G | CA413502350 | GJB1 | c.424C>G (p.Arg142Gly) | |
X | g.71224131C>T | CA255229 | GJB1 | c.424C>T (p.Arg142Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.71224132G>A | CA334230 | GJB1 | c.425G>A (p.Arg142Gln) | ClinVar dbSNP |
X | g.71224132G>C | CA413502354 | GJB1 | c.425G>C (p.Arg142Pro) | |
X | g.71224132G= | CA2436388361 | GJB1 | c.425G= (p.Arg142=) | |
X | g.71224132G>T | CA413502356 | GJB1 | c.425G>T (p.Arg142Leu) | |
X | g.71224133G>A | CA516820923 | GJB1 | c.426G>A (p.Arg142=) | |
X | g.71224133G>C | CA516820924 | GJB1 | c.426G>C (p.Arg142=) | |
X | g.71224133G>T | CA516820922 | GJB1 | c.426G>T (p.Arg142=) | |
X | g.71224134C>A | CA413502359 | GJB1 | c.427C>A (p.Leu143Met) | |
X | g.71224134C>G | CA413502362 | GJB1 | c.427C>G (p.Leu143Val) | |
X | g.71224134C>T | CA516820925 | GJB1 | c.427C>T (p.Leu143=) | |
X | g.71224134_71224137delinsCTGT | CA2436388362 | GJB1 | c.427_430delinsCTGT (p.Leu143=) | |
X | g.71224135T>A | CA413502366 | GJB1 | c.428T>A (p.Leu143Gln) | |
X | g.71224135T>C | CA413502367 | GJB1 | c.428T>C (p.Leu143Pro) | ClinVar dbSNP |
X | g.71224135T>G | CA413502371 | GJB1 | c.428T>G (p.Leu143Arg) | ClinVar |
X | g.71224135T= | CA2436388363 | GJB1 | c.428T= (p.Leu143=) | |
X | g.71224139_71224141del | CA915951200 | GJB1 | c.432_434del (p.Leu144del) | ClinVar dbSNP |
X | g.71224136G>A | CA516820931 | GJB1 | c.429G>A (p.Leu143=) | gnomAD v4 |
X | g.71224136G>C | CA516820928 | GJB1 | c.429G>C (p.Leu143=) | |
X | g.71224136G>T | CA516820930 | GJB1 | c.429G>T (p.Leu143=) | |
X | g.71224137T>A | CA413502373 | GJB1 | c.430T>A (p.Leu144Met) | |
X | g.71224137T>C | CA516820932 | GJB1 | c.430T>C (p.Leu144=) | ClinVar dbSNP gnomAD v4 |
X | g.71224137T>G | CA413502380 | GJB1 | c.430T>G (p.Leu144Val) | |
X | g.71224137T= | CA2436388364 | GJB1 | c.430T= (p.Leu144=) | |
X | g.71224138T>A | CA413502384 | GJB1 | c.431T>A (p.Leu144Ter) | |
X | g.71224138T>C | CA413502386 | GJB1 | c.431T>C (p.Leu144Ser) | |
X | g.71224138T>G | CA413502388 | GJB1 | c.431T>G (p.Leu144Trp) | |
X | g.71224139G>A | CA516820933 | GJB1 | c.432G>A (p.Leu144=) | |
X | g.71224139G>C | CA413502390 | GJB1 | c.432G>C (p.Leu144Phe) | |
X | g.71224139G>T | CA413502393 | GJB1 | c.432G>T (p.Leu144Phe) | |
X | g.71224140T>A | CA413502397 | GJB1 | c.433T>A (p.Phe145Ile) | |
X | g.71224140T>C | CA413502399 | GJB1 | c.433T>C (p.Phe145Leu) | |
X | g.71224140T>G | CA413502398 | GJB1 | c.433T>G (p.Phe145Val) | |
X | g.71224142del | CA2697553167 | GJB1 | c.435del (p.Phe145LeufsTer?) | ClinVar |
X | g.71224141T>A | CA413502402 | GJB1 | c.434T>A (p.Phe145Tyr) | |
X | g.71224141T>C | CA413502405 | GJB1 | c.434T>C (p.Phe145Ser) | |
X | g.71224141T>G | CA413502407 | GJB1 | c.434T>G (p.Phe145Cys) | ClinVar dbSNP |
X | g.71224141T= | CA2436388365 | GJB1 | c.434T= (p.Phe145=) | |
X | g.71224142T>A | CA413502410 | GJB1 | c.435T>A (p.Phe145Leu) | |
X | g.71224142T>C | CA516820936 | GJB1 | c.435T>C (p.Phe145=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.71224142T>G | CA413502413 | GJB1 | c.435T>G (p.Phe145Leu) |