| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981035G>A | CA361707878 | SLC26A2 | c.1442G>A (p.Ser481Asn) c.372+2684G>A (n.372+2684G>A) | |
| 5 | g.149981035G>C | CA361707879 | SLC26A2 | c.1442G>C (p.Ser481Thr) c.372+2684G>C (n.372+2684G>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981035G= | CA1590738623 | SLC26A2 | c.1442G= (p.Ser481=) c.372+2684G= (n.372+2684G=) | |
| 5 | g.149981035G>T | CA361707877 | SLC26A2 | c.1442G>T (p.Ser481Ile) c.372+2684G>T (n.372+2684G>T) | |
| 5 | g.149981036T>A | CA361707880 | SLC26A2 | c.1443T>A (p.Ser481Arg) c.372+2685T>A (n.372+2685T>A) | |
| 5 | g.149981036T>C | CA129084376 | SLC26A2 | c.1443T>C (p.Ser481=) c.372+2685T>C (n.372+2685T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981036T>G | CA361707881 | SLC26A2 | c.1443T>G (p.Ser481Arg) c.372+2685T>G (n.372+2685T>G) | |
| 5 | g.149981036T= | CA1590738624 | SLC26A2 | c.1443T= (p.Ser481=) c.372+2685T= (n.372+2685T=) | |
| 5 | g.149981037G>A | CA361707882 | SLC26A2 | c.1444G>A (p.Val482Ile) c.372+2686G>A (n.372+2686G>A) | |
| 5 | g.149981037G>C | CA361707883 | SLC26A2 | c.1444G>C (p.Val482Leu) c.372+2686G>C (n.372+2686G>C) | |
| 5 | g.149981037G>T | CA361707884 | SLC26A2 | c.1444G>T (p.Val482Phe) c.372+2686G>T (n.372+2686G>T) | |
| 5 | g.149981038T>A | CA361707887 | SLC26A2 | c.1445T>A (p.Val482Asp) c.372+2687T>A (n.372+2687T>A) | |
| 5 | g.149981038T>C | CA361707885 | SLC26A2 | c.1445T>C (p.Val482Ala) c.372+2687T>C (n.372+2687T>C) | gnomAD v4 |
| 5 | g.149981038T>G | CA361707886 | SLC26A2 | c.1445T>G (p.Val482Gly) c.372+2687T>G (n.372+2687T>G) | |
| 5 | g.149981039C>A | CA447402637 | SLC26A2 | c.1446C>A (p.Val482=) c.372+2688C>A (n.372+2688C>A) | |
| 5 | g.149981039C>G | CA447402638 | SLC26A2 | c.1446C>G (p.Val482=) c.372+2688C>G (n.372+2688C>G) | |
| 5 | g.149981039C>T | CA447402639 | SLC26A2 | c.1446C>T (p.Val482=) c.372+2688C>T (n.372+2688C>T) | ClinVar gnomAD v4 |
| 5 | g.149981040del | CA2675943651 | SLC26A2 | c.1447del (p.Gly484ValfsTer2) c.372+2689del (n.372+2689del) | gnomAD v4 |
| 5 | g.149981040C>A | CA361707888 | SLC26A2 | c.1447C>A (p.Leu483Ile) c.372+2689C>A (n.372+2689C>A) | gnomAD v4 |
| 5 | g.149981040C>G | CA361707889 | SLC26A2 | c.1447C>G (p.Leu483Val) c.372+2689C>G (n.372+2689C>G) | |
| 5 | g.149981040C>T | CA361707890 | SLC26A2 | c.1447C>T (p.Leu483Phe) c.372+2689C>T (n.372+2689C>T) | ClinVar |
| 5 | g.149981041T>A | CA361707891 | SLC26A2 | c.1448T>A (p.Leu483His) c.372+2690T>A (n.372+2690T>A) | |
| 5 | g.149981041T>C | CA361707892 | SLC26A2 | c.1448T>C (p.Leu483Pro) c.372+2690T>C (n.372+2690T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981041T>G | CA361707893 | SLC26A2 | c.1448T>G (p.Leu483Arg) c.372+2690T>G (n.372+2690T>G) | |
| 5 | g.149981041T= | CA1590738625 | SLC26A2 | c.1448T= (p.Leu483=) c.372+2690T= (n.372+2690T=) | |
| 5 | g.149981042T>A | CA447402643 | SLC26A2 | c.1449T>A (p.Leu483=) c.372+2691T>A (n.372+2691T>A) | |
| 5 | g.149981042T>C | CA447402644 | SLC26A2 | c.1449T>C (p.Leu483=) c.372+2691T>C (n.372+2691T>C) | |
| 5 | g.149981042T>G | CA447402645 | SLC26A2 | c.1449T>G (p.Leu483=) c.372+2691T>G (n.372+2691T>G) | |
| 5 | g.149981043G>A | CA361707895 | SLC26A2 | c.1450G>A (p.Gly484Ser) c.372+2692G>A (n.372+2692G>A) | gnomAD v4 |
| 5 | g.149981043G>C | CA361707896 | SLC26A2 | c.1450G>C (p.Gly484Arg) c.372+2692G>C (n.372+2692G>C) | |
| 5 | g.149981043G>T | CA361707894 | SLC26A2 | c.1450G>T (p.Gly484Cys) c.372+2692G>T (n.372+2692G>T) | |
| 5 | g.149981044G>A | CA263252 | SLC26A2 | c.1451G>A (p.Gly484Asp) c.372+2693G>A (n.372+2693G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981044G>C | CA361707897 | SLC26A2 | c.1451G>C (p.Gly484Ala) c.372+2693G>C (n.372+2693G>C) | |
| 5 | g.149981044G= | CA1590738626 | SLC26A2 | c.1451G= (p.Gly484=) c.372+2693G= (n.372+2693G=) | |
| 5 | g.149981044G>T | CA361707898 | SLC26A2 | c.1451G>T (p.Gly484Val) c.372+2693G>T (n.372+2693G>T) | |
| 5 | g.149981045T>A | CA447402650 | SLC26A2 | c.1452T>A (p.Gly484=) c.372+2694T>A (n.372+2694T>A) | |
| 5 | g.149981045T>C | CA447402652 | SLC26A2 | c.1452T>C (p.Gly484=) c.372+2694T>C (n.372+2694T>C) | ClinVar |
| 5 | g.149981045T>G | CA447402653 | SLC26A2 | c.1452T>G (p.Gly484=) c.372+2694T>G (n.372+2694T>G) | |
| 5 | g.149981046G>A | CA361707899 | SLC26A2 | c.1453G>A (p.Val485Met) c.372+2695G>A (n.372+2695G>A) | |
| 5 | g.149981046G>C | CA361707900 | SLC26A2 | c.1453G>C (p.Val485Leu) c.372+2695G>C (n.372+2695G>C) | |
| 5 | g.149981046G>T | CA361707901 | SLC26A2 | c.1453G>T (p.Val485Leu) c.372+2695G>T (n.372+2695G>T) | |
| 5 | g.149981047T>A | CA361707902 | SLC26A2 | c.1454T>A (p.Val485Glu) c.372+2696T>A (n.372+2696T>A) | |
| 5 | g.149981047T>C | CA361707903 | SLC26A2 | c.1454T>C (p.Val485Ala) c.372+2696T>C (n.372+2696T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981047T>G | CA361707904 | SLC26A2 | c.1454T>G (p.Val485Gly) c.372+2696T>G (n.372+2696T>G) | |
| 5 | g.149981047T= | CA1590738627 | SLC26A2 | c.1454T= (p.Val485=) c.372+2696T= (n.372+2696T=) | |
| 5 | g.149981048G>A | CA447402655 | SLC26A2 | c.1455G>A (p.Val485=) c.372+2697G>A (n.372+2697G>A) | |
| 5 | g.149981048G>C | CA447402656 | SLC26A2 | c.1455G>C (p.Val485=) c.372+2697G>C (n.372+2697G>C) | |
| 5 | g.149981048G>T | CA447402657 | SLC26A2 | c.1455G>T (p.Val485=) c.372+2697G>T (n.372+2697G>T) | |
| 5 | g.149981049A= | CA1590738628 | SLC26A2 | c.1456A= (p.Ile486=) c.372+2698A= (n.372+2698A=) | |
| 5 | g.149981049A>C | CA361707905 | SLC26A2 | c.1456A>C (p.Ile486Leu) c.372+2698A>C (n.372+2698A>C) |