Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980565C>A | CA361706679 | SLC26A2 | c.972C>A (p.His324Gln) c.372+2214C>A (n.372+2214C>A) | dbSNP gnomAD v4 |
5 | g.149980565C= | CA1590738424 | SLC26A2 | c.972C= (p.His324=) c.372+2214C= (n.372+2214C=) | |
5 | g.149980565C>G | CA361706680 | SLC26A2 | c.972C>G (p.His324Gln) c.372+2214C>G (n.372+2214C>G) | |
5 | g.149980565C>T | CA447402358 | SLC26A2 | c.972C>T (p.His324=) c.372+2214C>T (n.372+2214C>T) | dbSNP |
5 | g.149980566T>A | CA361706681 | SLC26A2 | c.973T>A (p.Phe325Ile) c.372+2215T>A (n.372+2215T>A) | |
5 | g.149980566T>C | CA361706682 | SLC26A2 | c.973T>C (p.Phe325Leu) c.372+2215T>C (n.372+2215T>C) | |
5 | g.149980566T>G | CA361706683 | SLC26A2 | c.973T>G (p.Phe325Val) c.372+2215T>G (n.372+2215T>G) | |
5 | g.149980567T>A | CA361706684 | SLC26A2 | c.974T>A (p.Phe325Tyr) c.372+2216T>A (n.372+2216T>A) | |
5 | g.149980567T>C | CA361706685 | SLC26A2 | c.974T>C (p.Phe325Ser) c.372+2216T>C (n.372+2216T>C) | |
5 | g.149980567T>G | CA361706686 | SLC26A2 | c.974T>G (p.Phe325Cys) c.372+2216T>G (n.372+2216T>G) | |
5 | g.149980568C>A | CA361706687 | SLC26A2 | c.975C>A (p.Phe325Leu) c.372+2217C>A (n.372+2217C>A) | gnomAD v4 |
5 | g.149980568C>G | CA361706688 | SLC26A2 | c.975C>G (p.Phe325Leu) c.372+2217C>G (n.372+2217C>G) | |
5 | g.149980568C>T | CA447402360 | SLC26A2 | c.975C>T (p.Phe325=) c.372+2217C>T (n.372+2217C>T) | |
5 | g.149980569A>C | CA361706689 | SLC26A2 | c.976A>C (p.Lys326Gln) c.372+2218A>C (n.372+2218A>C) | |
5 | g.149980569A>G | CA361706691 | SLC26A2 | c.976A>G (p.Lys326Glu) c.372+2218A>G (n.372+2218A>G) | |
5 | g.149980569A>T | CA361706690 | SLC26A2 | c.976A>T (p.Lys326Ter) c.372+2218A>T (n.372+2218A>T) | |
5 | g.149980570A>C | CA361706692 | SLC26A2 | c.977A>C (p.Lys326Thr) c.372+2219A>C (n.372+2219A>C) | |
5 | g.149980570A>G | CA361706693 | SLC26A2 | c.977A>G (p.Lys326Arg) c.372+2219A>G (n.372+2219A>G) | |
5 | g.149980570A>T | CA361706694 | SLC26A2 | c.977A>T (p.Lys326Ile) c.372+2219A>T (n.372+2219A>T) | |
5 | g.149980571A= | CA1590738425 | SLC26A2 | c.978A= (p.Lys326=) c.372+2220A= (n.372+2220A=) | |
5 | g.149980571A>C | CA361706695 | SLC26A2 | c.978A>C (p.Lys326Asn) c.372+2220A>C (n.372+2220A>C) | |
5 | g.149980571A>G | CA447402364 | SLC26A2 | c.978A>G (p.Lys326=) c.372+2220A>G (n.372+2220A>G) | |
5 | g.149980571A>T | CA361706696 | SLC26A2 | c.978A>T (p.Lys326Asn) c.372+2220A>T (n.372+2220A>T) | dbSNP |
5 | g.149980572T>A | CA361706697 | SLC26A2 | c.979T>A (p.Ser327Thr) c.372+2221T>A (n.372+2221T>A) | |
5 | g.149980572T>C | CA361706698 | SLC26A2 | c.979T>C (p.Ser327Pro) c.372+2221T>C (n.372+2221T>C) | |
5 | g.149980572T>G | CA361706699 | SLC26A2 | c.979T>G (p.Ser327Ala) c.372+2221T>G (n.372+2221T>G) | |
5 | g.149980573C>A | CA361706700 | SLC26A2 | c.980C>A (p.Ser327Tyr) c.372+2222C>A (n.372+2222C>A) | |
5 | g.149980573C= | CA1590738426 | SLC26A2 | c.980C= (p.Ser327=) c.372+2222C= (n.372+2222C=) | |
5 | g.149980573C>G | CA361706701 | SLC26A2 | c.980C>G (p.Ser327Cys) c.372+2222C>G (n.372+2222C>G) | |
5 | g.149980573C>T | CA129083993 | SLC26A2 | c.980C>T (p.Ser327Phe) c.372+2222C>T (n.372+2222C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980574C>A | CA447402368 | SLC26A2 | c.981C>A (p.Ser327=) c.372+2223C>A (n.372+2223C>A) | |
5 | g.149980574C>G | CA447402369 | SLC26A2 | c.981C>G (p.Ser327=) c.372+2223C>G (n.372+2223C>G) | |
5 | g.149980574C>T | CA447402370 | SLC26A2 | c.981C>T (p.Ser327=) c.372+2223C>T (n.372+2223C>T) | |
5 | g.149980575A= | CA1590738427 | SLC26A2 | c.982A= (p.Lys328=) c.372+2224A= (n.372+2224A=) | |
5 | g.149980575A>C | CA361706703 | SLC26A2 | c.982A>C (p.Lys328Gln) c.372+2224A>C (n.372+2224A>C) | |
5 | g.149980575A>G | CA3505361 | SLC26A2 | c.982A>G (p.Lys328Glu) c.372+2224A>G (n.372+2224A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980575A>T | CA361706702 | SLC26A2 | c.982A>T (p.Lys328Ter) c.372+2224A>T (n.372+2224A>T) | |
5 | g.149980576A>C | CA361706706 | SLC26A2 | c.983A>C (p.Lys328Thr) c.372+2225A>C (n.372+2225A>C) | |
5 | g.149980576A>G | CA361706704 | SLC26A2 | c.983A>G (p.Lys328Arg) c.372+2225A>G (n.372+2225A>G) | gnomAD v4 |
5 | g.149980576A>T | CA361706705 | SLC26A2 | c.983A>T (p.Lys328Met) c.372+2225A>T (n.372+2225A>T) | |
5 | g.149980577G>A | CA447402372 | SLC26A2 | c.984G>A (p.Lys328=) c.372+2226G>A (n.372+2226G>A) | ClinVar dbSNP |
5 | g.149980577G>C | CA361706707 | SLC26A2 | c.984G>C (p.Lys328Asn) c.372+2226G>C (n.372+2226G>C) | |
5 | g.149980577G= | CA1590738428 | SLC26A2 | c.984G= (p.Lys328=) c.372+2226G= (n.372+2226G=) | |
5 | g.149980577G>T | CA361706708 | SLC26A2 | c.984G>T (p.Lys328Asn) c.372+2226G>T (n.372+2226G>T) | |
5 | g.149980578C>A | CA361706709 | SLC26A2 | c.985C>A (p.Leu329Ile) c.372+2227C>A (n.372+2227C>A) | gnomAD v4 |
5 | g.149980578C>G | CA361706710 | SLC26A2 | c.985C>G (p.Leu329Val) c.372+2227C>G (n.372+2227C>G) | |
5 | g.149980578C>T | CA361706711 | SLC26A2 | c.985C>T (p.Leu329Phe) c.372+2227C>T (n.372+2227C>T) | |
5 | g.149980579T>A | CA361706714 | SLC26A2 | c.986T>A (p.Leu329His) c.372+2228T>A (n.372+2228T>A) | |
5 | g.149980579T>C | CA361706712 | SLC26A2 | c.986T>C (p.Leu329Pro) c.372+2228T>C (n.372+2228T>C) | |
5 | g.149980579T>G | CA361706713 | SLC26A2 | c.986T>G (p.Leu329Arg) c.372+2228T>G (n.372+2228T>G) |