| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189511C>A | CA387462081 | GJB2 | c.71G>T (p.Trp24Leu) | |
| 13 | g.20189511C= | CA2077140478 | GJB2 | c.71G= (p.Trp24=) | |
| 13 | g.20189511C>G | CA387462079 | GJB2 | c.71G>C (p.Trp24Ser) | gnomAD v4 |
| 13 | g.20189511C>T | CA172240 | GJB2 | c.71G>A (p.Trp24Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189512A>C | CA387462083 | GJB2 | c.70T>G (p.Trp24Gly) | |
| 13 | g.20189512A>G | CA387462085 | GJB2 | c.70T>C (p.Trp24Arg) | |
| 13 | g.20189512A>T | CA387462087 | GJB2 | c.70T>A (p.Trp24Arg) | |
| 13 | g.20189513G>A | CA483154022 | GJB2 | c.69C>T (p.Ile23=) | ClinVar |
| 13 | g.20189513G>C | CA387462089 | GJB2 | c.69C>G (p.Ile23Met) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189513G= | CA2077140486 | GJB2 | c.69C= (p.Ile23=) | |
| 13 | g.20189513G>T | CA483154021 | GJB2 | c.69C>A (p.Ile23=) | |
| 13 | g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC | CA2077140484 | GJB2 | c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=) | |
| 13 | g.20189514A>C | CA387462091 | GJB2 | c.68T>G (p.Ile23Ser) | |
| 13 | g.20189514A>G | CA387462092 | GJB2 | c.68T>C (p.Ile23Thr) | |
| 13 | g.20189514A>T | CA387462093 | GJB2 | c.68T>A (p.Ile23Asn) | |
| 13 | g.20189514_20189551del | CA261644 | GJB2 | c.31_68del (p.Gly11LeufsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189515T>A | CA387462096 | GJB2 | c.67A>T (p.Ile23Phe) | |
| 13 | g.20189515T>C | CA387462098 | GJB2 | c.67A>G (p.Ile23Val) | |
| 13 | g.20189515T>G | CA387462099 | GJB2 | c.67A>C (p.Ile23Leu) | |
| 13 | g.20189516C>A | CA10584002 | GJB2 | c.66G>T (p.Lys22Asn) | ClinVar dbSNP |
| 13 | g.20189516C= | CA2077140498 | GJB2 | c.66G= (p.Lys22=) | |
| 13 | g.20189516C>G | CA387462101 | GJB2 | c.66G>C (p.Lys22Asn) | |
| 13 | g.20189516C>T | CA483154023 | GJB2 | c.66G>A (p.Lys22=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189517T>A | CA387462104 | GJB2 | c.65A>T (p.Lys22Met) | |
| 13 | g.20189517T>C | CA387462105 | GJB2 | c.65A>G (p.Lys22Arg) | |
| 13 | g.20189517T>G | CA387462107 | GJB2 | c.65A>C (p.Lys22Thr) | |
| 13 | g.20189519del | CA2575364825 | GJB2 | c.65del (p.Lys22ArgfsTer13) | |
| 13 | g.20189518T>A | CA387462113 | GJB2 | c.64A>T (p.Lys22Ter) | |
| 13 | g.20189518T>C | CA387462115 | GJB2 | c.64A>G (p.Lys22Glu) | |
| 13 | g.20189518T>G | CA387462117 | GJB2 | c.64A>C (p.Lys22Gln) | |
| 13 | g.20189519T>A | CA483154024 | GJB2 | c.63A>T (p.Gly21=) | |
| 13 | g.20189519T>C | CA483154026 | GJB2 | c.63A>G (p.Gly21=) | |
| 13 | g.20189519T>G | CA483154025 | GJB2 | c.63A>C (p.Gly21=) | |
| 13 | g.20189520_20189530del | CA2499221956 | GJB2 | c.53_63del (p.Thr18LysfsTer26) | ClinVar dbSNP |
| 13 | g.20189519_20189531delinsTCCAATGCTGGTG | CA2077140504 | GJB2 | c.51_63delinsCACCAGCATTGGA (p.Ser17=) | |
| 13 | g.20189520C>A | CA387462123 | GJB2 | c.62G>T (p.Gly21Val) | |
| 13 | g.20189520C= | CA2077140512 | GJB2 | c.62G= (p.Gly21=) | |
| 13 | g.20189520C>G | CA387462119 | GJB2 | c.62G>C (p.Gly21Ala) | |
| 13 | g.20189520C>T | CA387462122 | GJB2 | c.62G>A (p.Gly21Glu) | dbSNP COSMIC |
| 13 | g.20189520_20189523del | CA2622252307 | GJB2 | c.59_62del (p.Ile20LysfsTer14) | gnomAD v4 |
| 13 | g.20189520_20189531delinsT | CA10575530 | GJB2 | c.51_62delinsA (p.Thr18LysfsTer26) | ClinVar dbSNP |
| 13 | g.20189521C>A | CA387462125 | GJB2 | c.61G>T (p.Gly21Ter) | |
| 13 | g.20189521C>G | CA387462127 | GJB2 | c.61G>C (p.Gly21Arg) | |
| 13 | g.20189521C>T | CA387462128 | GJB2 | c.61G>A (p.Gly21Arg) | dbSNP |
| 13 | g.20189522A= | CA2077140514 | GJB2 | c.60T= (p.Ile20=) | |
| 13 | g.20189522A>C | CA6904326 | GJB2 | c.60T>G (p.Ile20Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189522A>G | CA483154027 | GJB2 | c.60T>C (p.Ile20=) | |
| 13 | g.20189522A>T | CA483154028 | GJB2 | c.60T>A (p.Ile20=) | |
| 13 | g.20189523A= | CA2077140519 | GJB2 | c.59T= (p.Ile20=) | |
| 13 | g.20189523A>C | CA387462131 | GJB2 | c.59T>G (p.Ile20Ser) |