| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981545_149981549delinsTTGAC | CA1590738821 | SLC26A2 | c.1952_1956delinsTTGAC (p.Ile651=) c.372+3194_372+3198delinsTTGAC (n.372+3194_372+3198delinsTTGAC) | |
| 5 | g.149981548_149981551del | CA16041000 | SLC26A2 | c.1955_1958del (p.Asp652AlafsTer7) c.372+3197_372+3200del (n.372+3197_372+3200del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981548A= | CA1590738823 | SLC26A2 | c.1955A= (p.Asp652=) c.372+3197A= (n.372+3197A=) | |
| 5 | g.149981548A>C | CA361709501 | SLC26A2 | c.1955A>C (p.Asp652Ala) c.372+3197A>C (n.372+3197A>C) | |
| 5 | g.149981548A>G | CA361709502 | SLC26A2 | c.1955A>G (p.Asp652Gly) c.372+3197A>G (n.372+3197A>G) | dbSNP |
| 5 | g.149981548A>T | CA361709503 | SLC26A2 | c.1955A>T (p.Asp652Val) c.372+3197A>T (n.372+3197A>T) | |
| 5 | g.149981548dup | CA913108433 | SLC26A2 | c.1955dup (p.Asp652GlufsTer24) c.372+3197dup (n.372+3197dup) | |
| 5 | g.149981549C>A | CA361709505 | SLC26A2 | c.1956C>A (p.Asp652Glu) c.372+3198C>A (n.372+3198C>A) | |
| 5 | g.149981549C>G | CA361709504 | SLC26A2 | c.1956C>G (p.Asp652Glu) c.372+3198C>G (n.372+3198C>G) | |
| 5 | g.149981549C>T | CA447402958 | SLC26A2 | c.1956C>T (p.Asp652=) c.372+3198C>T (n.372+3198C>T) | |
| 5 | g.149981549_149981550dup | CA658823316 | SLC26A2 | c.1956_1957dup (p.Cys653SerfsTer8) c.372+3198_372+3199dup (n.372+3198_372+3199dup) | ClinVar dbSNP |
| 5 | g.149981550T>A | CA252996 | SLC26A2 | c.1957T>A (p.Cys653Ser) c.372+3199T>A (n.372+3199T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981550T>C | CA361709506 | SLC26A2 | c.1957T>C (p.Cys653Arg) c.372+3199T>C (n.372+3199T>C) | gnomAD v4 |
| 5 | g.149981550T>G | CA361709507 | SLC26A2 | c.1957T>G (p.Cys653Gly) c.372+3199T>G (n.372+3199T>G) | ClinVar gnomAD v4 |
| 5 | g.149981550T= | CA1590738824 | SLC26A2 | c.1957T= (p.Cys653=) c.372+3199T= (n.372+3199T=) | |
| 5 | g.149981551G>A | CA361709508 | SLC26A2 | c.1958G>A (p.Cys653Tyr) c.372+3200G>A (n.372+3200G>A) | ClinVar dbSNP |
| 5 | g.149981551G>C | CA361709509 | SLC26A2 | c.1958G>C (p.Cys653Ser) c.372+3200G>C (n.372+3200G>C) | |
| 5 | g.149981551G= | CA1590738825 | SLC26A2 | c.1958G= (p.Cys653=) c.372+3200G= (n.372+3200G=) | |
| 5 | g.149981551G>T | CA361709510 | SLC26A2 | c.1958G>T (p.Cys653Phe) c.372+3200G>T (n.372+3200G>T) | gnomAD v4 |
| 5 | g.149981552C>A | CA361709512 | SLC26A2 | c.1959C>A (p.Cys653Ter) c.372+3201C>A (n.372+3201C>A) | |
| 5 | g.149981552C= | CA1590738826 | SLC26A2 | c.1959C= (p.Cys653=) c.372+3201C= (n.372+3201C=) | |
| 5 | g.149981552C>G | CA361709511 | SLC26A2 | c.1959C>G (p.Cys653Trp) c.372+3201C>G (n.372+3201C>G) | |
| 5 | g.149981552C>T | CA447402959 | SLC26A2 | c.1959C>T (p.Cys653=) c.372+3201C>T (n.372+3201C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981553A= | CA1590738827 | SLC26A2 | c.1960A= (p.Ser654=) c.372+3202A= (n.372+3202A=) | |
| 5 | g.149981553A>C | CA361709513 | SLC26A2 | c.1960A>C (p.Ser654Arg) c.372+3202A>C (n.372+3202A>C) | |
| 5 | g.149981553A>G | CA361709514 | SLC26A2 | c.1960A>G (p.Ser654Gly) c.372+3202A>G (n.372+3202A>G) | dbSNP |
| 5 | g.149981553A>T | CA361709515 | SLC26A2 | c.1960A>T (p.Ser654Cys) c.372+3202A>T (n.372+3202A>T) | |
| 5 | g.149981554G>A | CA361709516 | SLC26A2 | c.1961G>A (p.Ser654Asn) c.372+3203G>A (n.372+3203G>A) | |
| 5 | g.149981554G>C | CA361709517 | SLC26A2 | c.1961G>C (p.Ser654Thr) c.372+3203G>C (n.372+3203G>C) | |
| 5 | g.149981554G>T | CA361709518 | SLC26A2 | c.1961G>T (p.Ser654Ile) c.372+3203G>T (n.372+3203G>T) | |
| 5 | g.149981555T>A | CA361709520 | SLC26A2 | c.1962T>A (p.Ser654Arg) c.372+3204T>A (n.372+3204T>A) | |
| 5 | g.149981555T>C | CA3505522 | SLC26A2 | c.1962T>C (p.Ser654=) c.372+3204T>C (n.372+3204T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981555T>G | CA361709519 | SLC26A2 | c.1962T>G (p.Ser654Arg) c.372+3204T>G (n.372+3204T>G) | |
| 5 | g.149981555T= | CA1590738828 | SLC26A2 | c.1962T= (p.Ser654=) c.372+3204T= (n.372+3204T=) | |
| 5 | g.149981556G>A | CA361709521 | SLC26A2 | c.1963G>A (p.Ala655Thr) c.372+3205G>A (n.372+3205G>A) | gnomAD v4 |
| 5 | g.149981556G>C | CA361709522 | SLC26A2 | c.1963G>C (p.Ala655Pro) c.372+3205G>C (n.372+3205G>C) | |
| 5 | g.149981556G>T | CA361709523 | SLC26A2 | c.1963G>T (p.Ala655Ser) c.372+3205G>T (n.372+3205G>T) | |
| 5 | g.149981557C>A | CA361709524 | SLC26A2 | c.1964C>A (p.Ala655Glu) c.372+3206C>A (n.372+3206C>A) | |
| 5 | g.149981557C>G | CA361709525 | SLC26A2 | c.1964C>G (p.Ala655Gly) c.372+3206C>G (n.372+3206C>G) | |
| 5 | g.149981557C>T | CA361709526 | SLC26A2 | c.1964C>T (p.Ala655Val) c.372+3206C>T (n.372+3206C>T) | gnomAD v4 |
| 5 | g.149981558A>C | CA447402960 | SLC26A2 | c.1965A>C (p.Ala655=) c.372+3207A>C (n.372+3207A>C) | |
| 5 | g.149981558A>G | CA447402961 | SLC26A2 | c.1965A>G (p.Ala655=) c.372+3207A>G (n.372+3207A>G) | |
| 5 | g.149981558A>T | CA447402962 | SLC26A2 | c.1965A>T (p.Ala655=) c.372+3207A>T (n.372+3207A>T) | |
| 5 | g.149981559A= | CA1590738829 | SLC26A2 | c.1966A= (p.Ile656=) c.372+3208A= (n.372+3208A=) | |
| 5 | g.149981559A>C | CA361709527 | SLC26A2 | c.1966A>C (p.Ile656Leu) c.372+3208A>C (n.372+3208A>C) | dbSNP gnomAD v4 |
| 5 | g.149981559A>G | CA3505523 | SLC26A2 | c.1966A>G (p.Ile656Val) c.372+3208A>G (n.372+3208A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981559A>T | CA361709528 | SLC26A2 | c.1966A>T (p.Ile656Phe) c.372+3208A>T (n.372+3208A>T) | |
| 5 | g.149981560T>A | CA361709529 | SLC26A2 | c.1967T>A (p.Ile656Asn) c.372+3209T>A (n.372+3209T>A) | |
| 5 | g.149981560T>C | CA361709530 | SLC26A2 | c.1967T>C (p.Ile656Thr) c.372+3209T>C (n.372+3209T>C) | |
| 5 | g.149981560T>G | CA361709531 | SLC26A2 | c.1967T>G (p.Ile656Ser) c.372+3209T>G (n.372+3209T>G) |