| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224121C>A | CA413502297 | GJB1 | c.414C>A (p.Ser138Arg) | |
| X | g.71224121C= | CA2436388355 | GJB1 | c.414C= (p.Ser138=) | |
| X | g.71224121C>G | CA413502296 | GJB1 | c.414C>G (p.Ser138Arg) | |
| X | g.71224121C>T | CA516820911 | GJB1 | c.414C>T (p.Ser138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224122G>A | CA340967 | GJB1 | c.415G>A (p.Val139Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224122G>C | CA413502302 | GJB1 | c.415G>C (p.Val139Leu) | |
| X | g.71224122G= | CA2436388356 | GJB1 | c.415G= (p.Val139=) | |
| X | g.71224122G>T | CA413502309 | GJB1 | c.415G>T (p.Val139Leu) | |
| X | g.71224123T>A | CA413502312 | GJB1 | c.416T>A (p.Val139Glu) | |
| X | g.71224123T>C | CA413502313 | GJB1 | c.416T>C (p.Val139Ala) | |
| X | g.71224123T>G | CA413502316 | GJB1 | c.416T>G (p.Val139Gly) | ClinVar dbSNP |
| X | g.71224124G>A | CA516820912 | GJB1 | c.417G>A (p.Val139=) | |
| X | g.71224124G>C | CA516820913 | GJB1 | c.417G>C (p.Val139=) | |
| X | g.71224124G>T | CA516820914 | GJB1 | c.417G>T (p.Val139=) | |
| X | g.71224125G>A | CA413502319 | GJB1 | c.418G>A (p.Val140Met) | |
| X | g.71224125G>C | CA413502321 | GJB1 | c.418G>C (p.Val140Leu) | |
| X | g.71224125G>T | CA413502320 | GJB1 | c.418G>T (p.Val140Leu) | |
| X | g.71224126T>A | CA413502324 | GJB1 | c.419T>A (p.Val140Glu) | ClinVar dbSNP |
| X | g.71224126T>C | CA330997756 | GJB1 | c.419T>C (p.Val140Ala) | dbSNP |
| X | g.71224126T>G | CA413502328 | GJB1 | c.419T>G (p.Val140Gly) | |
| X | g.71224126T= | CA2436388357 | GJB1 | c.419T= (p.Val140=) | |
| X | g.71224127G>A | CA516820915 | GJB1 | c.420G>A (p.Val140=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224127G>C | CA516820916 | GJB1 | c.420G>C (p.Val140=) | |
| X | g.71224127G>T | CA516820917 | GJB1 | c.420G>T (p.Val140=) | |
| X | g.71224128T>A | CA413502333 | GJB1 | c.421T>A (p.Phe141Ile) | |
| X | g.71224128T>C | CA413502334 | GJB1 | c.421T>C (p.Phe141Leu) | |
| X | g.71224128T>G | CA413502336 | GJB1 | c.421T>G (p.Phe141Val) | |
| X | g.71224129T>A | CA413502338 | GJB1 | c.422T>A (p.Phe141Tyr) | |
| X | g.71224129T>C | CA413502340 | GJB1 | c.422T>C (p.Phe141Ser) | |
| X | g.71224129T>G | CA413502343 | GJB1 | c.422T>G (p.Phe141Cys) | |
| 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=) |