Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107674326C>A | CA368848389 | SLC26A4 | c.578C>A (p.Thr193Asn) | |
7 | g.107674326C= | CA1732746254 | SLC26A4 | c.578C= (p.Thr193=) | |
7 | g.107674326C>G | CA368848391 | SLC26A4 | c.578C>G (p.Thr193Ser) | |
7 | g.107674326C>T | CA253310 | SLC26A4 | c.578C>T (p.Thr193Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674327T>A | CA457105521 | SLC26A4 | c.579T>A (p.Thr193=) | dbSNP |
7 | g.107674327T>C | CA457105523 | SLC26A4 | c.579T>C (p.Thr193=) | |
7 | g.107674327T>G | CA457105525 | SLC26A4 | c.579T>G (p.Thr193=) | |
7 | g.107674327T= | CA1732746260 | SLC26A4 | c.579T= (p.Thr193=) | |
7 | g.107674328C>A | CA368848393 | SLC26A4 | c.580C>A (p.Leu194Met) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674328C= | CA1732746265 | SLC26A4 | c.580C= (p.Leu194=) | |
7 | g.107674328C>G | CA368848395 | SLC26A4 | c.580C>G (p.Leu194Val) | dbSNP |
7 | g.107674328C>T | CA457105528 | SLC26A4 | c.580C>T (p.Leu194=) | COSMIC |
7 | g.107674329T>A | CA368848399 | SLC26A4 | c.581T>A (p.Leu194Gln) | |
7 | g.107674329T>C | CA368848401 | SLC26A4 | c.581T>C (p.Leu194Pro) | gnomAD v4 |
7 | g.107674329T>G | CA368848397 | SLC26A4 | c.581T>G (p.Leu194Arg) | |
7 | g.107674330G>A | CA457105532 | SLC26A4 | c.582G>A (p.Leu194=) | ClinVar dbSNP |
7 | g.107674330G>C | CA457105535 | SLC26A4 | c.582G>C (p.Leu194=) | |
7 | g.107674330G= | CA1732746269 | SLC26A4 | c.582G= (p.Leu194=) | |
7 | g.107674330G>T | CA457105534 | SLC26A4 | c.582G>T (p.Leu194=) | |
7 | g.107674331C>A | CA368848402 | SLC26A4 | c.583C>A (p.Leu195Met) | |
7 | g.107674331C>G | CA368848404 | SLC26A4 | c.583C>G (p.Leu195Val) | gnomAD v4 |
7 | g.107674331C>T | CA457105538 | SLC26A4 | c.583C>T (p.Leu195=) | |
7 | g.107674332del | CA2697557483 | SLC26A4 | c.584del (p.Leu195ArgfsTer7) | ClinVar |
7 | g.107674332T>A | CA368848406 | SLC26A4 | c.584T>A (p.Leu195Gln) | |
7 | g.107674332T>C | CA368848408 | SLC26A4 | c.584T>C (p.Leu195Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674332T>G | CA368848410 | SLC26A4 | c.584T>G (p.Leu195Arg) | |
7 | g.107674332T= | CA1732746273 | SLC26A4 | c.584T= (p.Leu195=) | |
7 | g.107674333G>A | CA457105543 | SLC26A4 | c.585G>A (p.Leu195=) | gnomAD v4 |
7 | g.107674333G>C | CA457105545 | SLC26A4 | c.585G>C (p.Leu195=) | |
7 | g.107674333G>T | CA457105547 | SLC26A4 | c.585G>T (p.Leu195=) | |
7 | g.107674334G>A | CA368848411 | SLC26A4 | c.586G>A (p.Val196Ile) | gnomAD v4 |
7 | g.107674334G>C | CA368848412 | SLC26A4 | c.586G>C (p.Val196Leu) | gnomAD v4 |
7 | g.107674334G= | CA1732746276 | SLC26A4 | c.586G= (p.Val196=) | |
7 | g.107674334G>T | CA368848414 | SLC26A4 | c.586G>T (p.Val196Phe) | dbSNP gnomAD v4 |
7 | g.107674335T>A | CA368848416 | SLC26A4 | c.587T>A (p.Val196Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.107674335T>C | CA4432512 | SLC26A4 | c.587T>C (p.Val196Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107674335T>G | CA368848419 | SLC26A4 | c.587T>G (p.Val196Gly) | |
7 | g.107674335T= | CA1732746277 | SLC26A4 | c.587T= (p.Val196=) | |
7 | g.107674336T>A | CA457105552 | SLC26A4 | c.588T>A (p.Val196=) | |
7 | g.107674336T>C | CA457105556 | SLC26A4 | c.588T>C (p.Val196=) | |
7 | g.107674336T>G | CA457105554 | SLC26A4 | c.588T>G (p.Val196=) | |
7 | g.107674337G>A | CA261433 | SLC26A4 | c.589G>A (p.Gly197Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674337G>C | CA368848421 | SLC26A4 | c.589G>C (p.Gly197Arg) | |
7 | g.107674337G= | CA1732746283 | SLC26A4 | c.589G= (p.Gly197=) | |
7 | g.107674337G>T | CA368848422 | SLC26A4 | c.589G>T (p.Gly197Ter) | ClinVar dbSNP |
7 | g.107674338G>A | CA368848425 | SLC26A4 | c.590G>A (p.Gly197Glu) | ClinVar dbSNP |
7 | g.107674338G>C | CA368848428 | SLC26A4 | c.590G>C (p.Gly197Ala) | |
7 | g.107674338G= | CA1732746291 | SLC26A4 | c.590G= (p.Gly197=) | |
7 | g.107674338G>T | CA368848426 | SLC26A4 | c.590G>T (p.Gly197Val) | |
7 | g.107674341_107674356del | CA2573052785 | SLC26A4 | c.593_600+8del | ClinVar dbSNP |