| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224078_71224084delinsTCTTCACCT | CA2739273577 | GJB1 | c.371_377delinsTCTTCACCT (p.Lys124IlefsTer?) | ClinVar |
| X | g.71224083C>A | CA413502079 | GJB1 | c.376C>A (p.His126Asn) | |
| X | g.71224083C= | CA2436388332 | GJB1 | c.376C= (p.His126=) | |
| X | g.71224083C>G | CA413502081 | GJB1 | c.376C>G (p.His126Asp) | |
| X | g.71224083C>T | CA10584639 | GJB1 | c.376C>T (p.His126Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71224084A>C | CA413502086 | GJB1 | c.377A>C (p.His126Pro) | |
| X | g.71224084A>G | CA413502082 | GJB1 | c.377A>G (p.His126Arg) | |
| X | g.71224084A>T | CA413502084 | GJB1 | c.377A>T (p.His126Leu) | |
| X | g.71224085C>A | CA413502088 | GJB1 | c.378C>A (p.His126Gln) | |
| X | g.71224085C>G | CA413502089 | GJB1 | c.378C>G (p.His126Gln) | |
| X | g.71224085C>T | CA516820887 | GJB1 | c.378C>T (p.His126=) | ClinVar dbSNP |
| X | g.71224086A= | CA2436388333 | GJB1 | c.379A= (p.Ile127=) | |
| X | g.71224086A>C | CA413502090 | GJB1 | c.379A>C (p.Ile127Leu) | |
| X | g.71224086A>G | CA413502092 | GJB1 | c.379A>G (p.Ile127Val) | |
| X | g.71224086A>T | CA413502094 | GJB1 | c.379A>T (p.Ile127Phe) | ClinVar dbSNP |
| X | g.71224087T>A | CA413502095 | GJB1 | c.380T>A (p.Ile127Asn) | ClinVar dbSNP |
| X | g.71224087T>C | CA413502096 | GJB1 | c.380T>C (p.Ile127Thr) | |
| X | g.71224087T>G | CA413502098 | GJB1 | c.380T>G (p.Ile127Ser) | ClinVar dbSNP |
| X | g.71224087T= | CA2436388334 | GJB1 | c.380T= (p.Ile127=) | |
| X | g.71224088C>A | CA516820888 | GJB1 | c.381C>A (p.Ile127=) | |
| X | g.71224088C= | CA2436388335 | GJB1 | c.381C= (p.Ile127=) | |
| X | g.71224088C>G | CA413502100 | GJB1 | c.381C>G (p.Ile127Met) | ClinVar dbSNP |
| X | g.71224088C>T | CA516820889 | GJB1 | c.381C>T (p.Ile127=) | |
| X | g.71224089T>A | CA413502102 | GJB1 | c.382T>A (p.Ser128Thr) | |
| X | g.71224089T>C | CA413502103 | GJB1 | c.382T>C (p.Ser128Pro) | ClinVar dbSNP |
| X | g.71224089T>G | CA413502104 | GJB1 | c.382T>G (p.Ser128Ala) | |
| X | g.71224089T= | CA2436388336 | GJB1 | c.382T= (p.Ser128=) | |
| X | g.71224090C>A | CA413502105 | GJB1 | c.383C>A (p.Ser128Ter) | ClinVar dbSNP |
| X | g.71224090C= | CA2436388337 | GJB1 | c.383C= (p.Ser128=) | |
| X | g.71224090C>G | CA413502108 | GJB1 | c.383C>G (p.Ser128Ter) | ClinVar dbSNP |
| X | g.71224090C>T | CA413502106 | GJB1 | c.383C>T (p.Ser128Leu) | ClinVar dbSNP |
| X | g.71224091A= | CA2436388338 | GJB1 | c.384A= (p.Ser128=) | |
| X | g.71224091A>C | CA516820891 | GJB1 | c.384A>C (p.Ser128=) | |
| X | g.71224091A>G | CA10445298 | GJB1 | c.384A>G (p.Ser128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224091A>T | CA516820890 | GJB1 | c.384A>T (p.Ser128=) | |
| X | g.71224092G>A | CA413502113 | GJB1 | c.385G>A (p.Gly129Arg) | |
| X | g.71224092G>C | CA413502110 | GJB1 | c.385G>C (p.Gly129Arg) | |
| X | g.71224092G>T | CA413502111 | GJB1 | c.385G>T (p.Gly129Trp) | |
| X | g.71224093G>A | CA413502116 | GJB1 | c.386G>A (p.Gly129Glu) | ClinVar dbSNP |
| X | g.71224093G>C | CA413502118 | GJB1 | c.386G>C (p.Gly129Ala) | |
| X | g.71224093G= | CA2436388339 | GJB1 | c.386G= (p.Gly129=) | |
| X | g.71224093G>T | CA413502119 | GJB1 | c.386G>T (p.Gly129Val) | |
| X | g.71224094G>A | CA516820894 | GJB1 | c.387G>A (p.Gly129=) | |
| X | g.71224094G>C | CA516820893 | GJB1 | c.387G>C (p.Gly129=) | |
| X | g.71224094G>T | CA516820892 | GJB1 | c.387G>T (p.Gly129=) | gnomAD v4 |
| X | g.71224095A>C | CA413502121 | GJB1 | c.388A>C (p.Thr130Pro) | |
| X | g.71224095A>G | CA413502122 | GJB1 | c.388A>G (p.Thr130Ala) | ClinVar |
| X | g.71224095A>T | CA413502125 | GJB1 | c.388A>T (p.Thr130Ser) | |
| X | g.71224096C>A | CA413502127 | GJB1 | c.389C>A (p.Thr130Lys) | |
| X | g.71224096C= | CA2436388340 | GJB1 | c.389C= (p.Thr130=) |