Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107672181_107672182delinsTC | CA1732744055 | SLC26A4 | c.348_349delinsTC (p.Gly116=) | |
7 | g.107672184_107672185del | CA913111815 | SLC26A4 | c.351_352del (p.Tyr118LeufsTer?) | |
7 | g.107672181_107672186delinsTCTCTA | CA1732744056 | SLC26A4 | c.348_353delinsTCTCTA (p.Gly116=) | |
7 | g.107672182del | CA577030178 | SLC26A4 | c.349del (p.Leu117SerfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107672182C>A | CA368847043 | SLC26A4 | c.349C>A (p.Leu117Ile) | |
7 | g.107672182C= | CA1732744062 | SLC26A4 | c.349C= (p.Leu117=) | |
7 | g.107672182C>G | CA368847044 | SLC26A4 | c.349C>G (p.Leu117Val) | |
7 | g.107672182C>T | CA132727 | SLC26A4 | c.349C>T (p.Leu117Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107672186_107672190del | CA1105626749 | SLC26A4 | c.353_357del (p.Tyr118CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107672183T>A | CA368847045 | SLC26A4 | c.350T>A (p.Leu117His) | |
7 | g.107672183T>C | CA368847049 | SLC26A4 | c.350T>C (p.Leu117Pro) | |
7 | g.107672183T>G | CA368847051 | SLC26A4 | c.350T>G (p.Leu117Arg) | |
7 | g.107672184C>A | CA457105105 | SLC26A4 | c.351C>A (p.Leu117=) | |
7 | g.107672184C>G | CA457105106 | SLC26A4 | c.351C>G (p.Leu117=) | |
7 | g.107672184C>T | CA457105107 | SLC26A4 | c.351C>T (p.Leu117=) | |
7 | g.107672185T>A | CA368847053 | SLC26A4 | c.352T>A (p.Tyr118Asn) | |
7 | g.107672185T>C | CA368847055 | SLC26A4 | c.352T>C (p.Tyr118His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107672185T>G | CA368847058 | SLC26A4 | c.352T>G (p.Tyr118Asp) | |
7 | g.107672185T= | CA1732744065 | SLC26A4 | c.352T= (p.Tyr118=) | |
7 | g.107672186A= | CA1732744067 | SLC26A4 | c.353A= (p.Tyr118=) | |
7 | g.107672186A>C | CA368847059 | SLC26A4 | c.353A>C (p.Tyr118Ser) | dbSNP |
7 | g.107672186A>G | CA368847061 | SLC26A4 | c.353A>G (p.Tyr118Cys) | |
7 | g.107672186A>T | CA368847063 | SLC26A4 | c.353A>T (p.Tyr118Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107672187C>A | CA368847065 | SLC26A4 | c.354C>A (p.Tyr118Ter) | |
7 | g.107672187C>G | CA368847067 | SLC26A4 | c.354C>G (p.Tyr118Ter) | |
7 | g.107672187C>T | CA457105108 | SLC26A4 | c.354C>T (p.Tyr118=) | |
7 | g.107672188T>A | CA368847070 | SLC26A4 | c.355T>A (p.Ser119Thr) | |
7 | g.107672188T>C | CA368847073 | SLC26A4 | c.355T>C (p.Ser119Pro) | gnomAD v4 |
7 | g.107672188T>G | CA368847072 | SLC26A4 | c.355T>G (p.Ser119Ala) | |
7 | g.107672189C>A | CA368847075 | SLC26A4 | c.356C>A (p.Ser119Tyr) | |
7 | g.107672189C>G | CA368847078 | SLC26A4 | c.356C>G (p.Ser119Cys) | |
7 | g.107672189C>T | CA368847076 | SLC26A4 | c.356C>T (p.Ser119Phe) | |
7 | g.107672190del | CA2684459844 | SLC26A4 | c.357del (p.Ala120LeufsTer6) | gnomAD v4 |
7 | g.107672190T>A | CA457105109 | SLC26A4 | c.357T>A (p.Ser119=) | |
7 | g.107672190T>C | CA457105110 | SLC26A4 | c.357T>C (p.Ser119=) | ClinVar dbSNP gnomAD v4 |
7 | g.107672190T>G | CA457105111 | SLC26A4 | c.357T>G (p.Ser119=) | |
7 | g.107672191G>A | CA368847080 | SLC26A4 | c.358G>A (p.Ala120Thr) | |
7 | g.107672191G>C | CA368847082 | SLC26A4 | c.358G>C (p.Ala120Pro) | ClinVar dbSNP |
7 | g.107672191G>T | CA368847087 | SLC26A4 | c.358G>T (p.Ala120Ser) | |
7 | g.107672192C>A | CA368847090 | SLC26A4 | c.359C>A (p.Ala120Asp) | |
7 | g.107672192C= | CA1732744069 | SLC26A4 | c.359C= (p.Ala120=) | |
7 | g.107672192C>G | CA368847095 | SLC26A4 | c.359C>G (p.Ala120Gly) | |
7 | g.107672192C>T | CA368847096 | SLC26A4 | c.359C>T (p.Ala120Val) | |
7 | g.107672193T>A | CA457105112 | SLC26A4 | c.360T>A (p.Ala120=) | |
7 | g.107672193T>C | CA457105113 | SLC26A4 | c.360T>C (p.Ala120=) | ClinVar |
7 | g.107672193T>G | CA457105114 | SLC26A4 | c.360T>G (p.Ala120=) | |
7 | g.107672198dup | CA274422 | SLC26A4 | c.365dup (p.Ile124TyrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107672198del | CA2499218641 | SLC26A4 | c.365del (p.Phe122SerfsTer4) | ClinVar dbSNP gnomAD v4 |
7 | g.107672194T>A | CA368847097 | SLC26A4 | c.361T>A (p.Phe121Ile) | |
7 | g.107672194T>C | CA368847098 | SLC26A4 | c.361T>C (p.Phe121Leu) |