Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189132_20189151del | CA2695217664 | GJB2 | c.431_450del (p.Val144AspfsTer?) | |
13 | g.20189133_20189151del | CA2695217665 | GJB2 | c.431_449del (p.Val144AlafsTer18) | |
13 | g.20189141T>A | CA387461139 | GJB2 | c.441A>T (p.Glu147Asp) | |
13 | g.20189141T>C | CA483153957 | GJB2 | c.441A>G (p.Glu147=) | ClinVar |
13 | g.20189141T>G | CA387461140 | GJB2 | c.441A>C (p.Glu147Asp) | |
13 | g.20189142T>A | CA387461143 | GJB2 | c.440A>T (p.Glu147Val) | |
13 | g.20189142T>C | CA387461142 | GJB2 | c.440A>G (p.Glu147Gly) | ClinVar dbSNP |
13 | g.20189142T>G | CA387461141 | GJB2 | c.440A>C (p.Glu147Ala) | |
13 | g.20189142T= | CA2077139207 | GJB2 | c.440A= (p.Glu147=) | |
13 | g.20189143C>A | CA387461145 | GJB2 | c.439G>T (p.Glu147Ter) | |
13 | g.20189143C= | CA2077139213 | GJB2 | c.439G= (p.Glu147=) | |
13 | g.20189143C>G | CA387461144 | GJB2 | c.439G>C (p.Glu147Gln) | |
13 | g.20189143C>T | CA6904269 | GJB2 | c.439G>A (p.Glu147Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>A | CA6904270 | GJB2 | c.438C>T (p.Phe146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>C | CA387461147 | GJB2 | c.438C>G (p.Phe146Leu) | COSMIC |
13 | g.20189144G= | CA2077139219 | GJB2 | c.438C= (p.Phe146=) | |
13 | g.20189144G>T | CA387461146 | GJB2 | c.438C>A (p.Phe146Leu) | |
13 | g.20189145A>C | CA387461148 | GJB2 | c.437T>G (p.Phe146Cys) | |
13 | g.20189145A>G | CA387461149 | GJB2 | c.437T>C (p.Phe146Ser) | |
13 | g.20189145A>T | CA387461150 | GJB2 | c.437T>A (p.Phe146Tyr) | |
13 | g.20189146A>C | CA387461151 | GJB2 | c.436T>G (p.Phe146Val) | |
13 | g.20189146A>G | CA387461152 | GJB2 | c.436T>C (p.Phe146Leu) | |
13 | g.20189146A>T | CA387461153 | GJB2 | c.436T>A (p.Phe146Ile) | |
13 | g.20189147_20189148del | CA2695217667 | GJB2 | c.435_436del (p.Phe146ArgfsTer?) | |
13 | g.20189146_20189149delinsAGAT | CA2077139221 | GJB2 | c.433_436delinsATCT (p.Ile145=) | |
13 | g.20189147G>A | CA483153958 | GJB2 | c.435C>T (p.Ile145=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189147G>C | CA387461154 | GJB2 | c.435C>G (p.Ile145Met) | |
13 | g.20189147G= | CA2077139228 | GJB2 | c.435C= (p.Ile145=) | |
13 | g.20189147G>T | CA483153959 | GJB2 | c.435C>A (p.Ile145=) | |
13 | g.20189149_20189151del | CA246460156 | GJB2 | c.433_435del (p.Ile145del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189148A>C | CA387461155 | GJB2 | c.434T>G (p.Ile145Ser) | |
13 | g.20189148A>G | CA387461156 | GJB2 | c.434T>C (p.Ile145Thr) | |
13 | g.20189148A>T | CA387461157 | GJB2 | c.434T>A (p.Ile145Asn) | |
13 | g.20189149T>A | CA387461158 | GJB2 | c.433A>T (p.Ile145Phe) | |
13 | g.20189149T>C | CA387461159 | GJB2 | c.433A>G (p.Ile145Val) | |
13 | g.20189149T>G | CA387461160 | GJB2 | c.433A>C (p.Ile145Leu) | |
13 | g.20189150G>A | CA483153960 | GJB2 | c.432C>T (p.Val144=) | ClinVar |
13 | g.20189150G>C | CA483153961 | GJB2 | c.432C>G (p.Val144=) | |
13 | g.20189150G>T | CA483153962 | GJB2 | c.432C>A (p.Val144=) | ClinVar gnomAD v4 |
13 | g.20189151A>C | CA387461163 | GJB2 | c.431T>G (p.Val144Gly) | |
13 | g.20189151A>G | CA387461162 | GJB2 | c.431T>C (p.Val144Ala) | |
13 | g.20189151A>T | CA387461161 | GJB2 | c.431T>A (p.Val144Asp) | |
13 | g.20189152C>A | CA387461164 | GJB2 | c.430G>T (p.Val144Phe) | |
13 | g.20189152C= | CA2077139234 | GJB2 | c.430G= (p.Val144=) | |
13 | g.20189152C>G | CA387461165 | GJB2 | c.430G>C (p.Val144Leu) | gnomAD v4 |
13 | g.20189152C>T | CA387461166 | GJB2 | c.430G>A (p.Val144Ile) | dbSNP |
13 | g.20189153C>A | CA483153963 | GJB2 | c.429G>T (p.Arg143=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189153C>G | CA483153964 | GJB2 | c.429G>C (p.Arg143=) | |
13 | g.20189153C>T | CA483153965 | GJB2 | c.429G>A (p.Arg143=) | gnomAD v4 |
13 | g.20189154C>A | CA387461167 | GJB2 | c.428G>T (p.Arg143Leu) | gnomAD v4 |