| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981130G>A | CA361708080 | SLC26A2 | c.1537G>A (p.Val513Ile) c.372+2779G>A (n.372+2779G>A) | |
| 5 | g.149981130G>C | CA361708079 | SLC26A2 | c.1537G>C (p.Val513Leu) c.372+2779G>C (n.372+2779G>C) | |
| 5 | g.149981130G>T | CA361708078 | SLC26A2 | c.1537G>T (p.Val513Phe) c.372+2779G>T (n.372+2779G>T) | |
| 5 | g.149981130_149981134dup | CA16040997 | SLC26A2 | c.1537_1541dup (p.Ile514MetfsTer14) c.372+2779_372+2783dup (n.372+2779_372+2783dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981131T>A | CA361708081 | SLC26A2 | c.1538T>A (p.Val513Asp) c.372+2780T>A (n.372+2780T>A) | |
| 5 | g.149981131T>C | CA361708082 | SLC26A2 | c.1538T>C (p.Val513Ala) c.372+2780T>C (n.372+2780T>C) | |
| 5 | g.149981131T>G | CA361708083 | SLC26A2 | c.1538T>G (p.Val513Gly) c.372+2780T>G (n.372+2780T>G) | |
| 5 | g.149981132T>A | CA447402648 | SLC26A2 | c.1539T>A (p.Val513=) c.372+2781T>A (n.372+2781T>A) | |
| 5 | g.149981132T>C | CA447402651 | SLC26A2 | c.1539T>C (p.Val513=) c.372+2781T>C (n.372+2781T>C) | |
| 5 | g.149981132T>G | CA447402654 | SLC26A2 | c.1539T>G (p.Val513=) c.372+2781T>G (n.372+2781T>G) | |
| 5 | g.149981133A>C | CA361708084 | SLC26A2 | c.1540A>C (p.Ile514Leu) c.372+2782A>C (n.372+2782A>C) | |
| 5 | g.149981133A>G | CA361708085 | SLC26A2 | c.1540A>G (p.Ile514Val) c.372+2782A>G (n.372+2782A>G) | gnomAD v4 |
| 5 | g.149981133A>T | CA361708086 | SLC26A2 | c.1540A>T (p.Ile514Phe) c.372+2782A>T (n.372+2782A>T) | |
| 5 | g.149981134T>A | CA361708087 | SLC26A2 | c.1541T>A (p.Ile514Asn) c.372+2783T>A (n.372+2783T>A) | |
| 5 | g.149981134T>C | CA3505455 | SLC26A2 | c.1541T>C (p.Ile514Thr) c.372+2783T>C (n.372+2783T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981134T>G | CA361708088 | SLC26A2 | c.1541T>G (p.Ile514Ser) c.372+2783T>G (n.372+2783T>G) | |
| 5 | g.149981134T= | CA1590738652 | SLC26A2 | c.1541T= (p.Ile514=) c.372+2783T= (n.372+2783T=) | |
| 5 | g.149981135C>A | CA447402658 | SLC26A2 | c.1542C>A (p.Ile514=) c.372+2784C>A (n.372+2784C>A) | |
| 5 | g.149981135C>G | CA361708089 | SLC26A2 | c.1542C>G (p.Ile514Met) c.372+2784C>G (n.372+2784C>G) | |
| 5 | g.149981135C>T | CA447402659 | SLC26A2 | c.1542C>T (p.Ile514=) c.372+2784C>T (n.372+2784C>T) | ClinVar |
| 5 | g.149981136T>A | CA361708090 | SLC26A2 | c.1543T>A (p.Trp515Arg) c.372+2785T>A (n.372+2785T>A) | |
| 5 | g.149981136T>C | CA361708091 | SLC26A2 | c.1543T>C (p.Trp515Arg) c.372+2785T>C (n.372+2785T>C) | |
| 5 | g.149981136T>G | CA361708092 | SLC26A2 | c.1543T>G (p.Trp515Gly) c.372+2785T>G (n.372+2785T>G) | |
| 5 | g.149981137G>A | CA361708095 | SLC26A2 | c.1544G>A (p.Trp515Ter) c.372+2786G>A (n.372+2786G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981137G>C | CA361708094 | SLC26A2 | c.1544G>C (p.Trp515Ser) c.372+2786G>C (n.372+2786G>C) | |
| 5 | g.149981137G>T | CA361708093 | SLC26A2 | c.1544G>T (p.Trp515Leu) c.372+2786G>T (n.372+2786G>T) | |
| 5 | g.149981138G>A | CA3505456 | SLC26A2 | c.1545G>A (p.Trp515Ter) c.372+2787G>A (n.372+2787G>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149981138G>C | CA361708096 | SLC26A2 | c.1545G>C (p.Trp515Cys) c.372+2787G>C (n.372+2787G>C) | |
| 5 | g.149981138G= | CA1590738653 | SLC26A2 | c.1545G= (p.Trp515=) c.372+2787G= (n.372+2787G=) | |
| 5 | g.149981138G>T | CA361708097 | SLC26A2 | c.1545G>T (p.Trp515Cys) c.372+2787G>T (n.372+2787G>T) | |
| 5 | g.149981139T>A | CA361708098 | SLC26A2 | c.1546T>A (p.Phe516Ile) c.372+2788T>A (n.372+2788T>A) | |
| 5 | g.149981139T>C | CA361708099 | SLC26A2 | c.1546T>C (p.Phe516Leu) c.372+2788T>C (n.372+2788T>C) | |
| 5 | g.149981139T>G | CA361708100 | SLC26A2 | c.1546T>G (p.Phe516Val) c.372+2788T>G (n.372+2788T>G) | |
| 5 | g.149981140T>A | CA361708101 | SLC26A2 | c.1547T>A (p.Phe516Tyr) c.372+2789T>A (n.372+2789T>A) | |
| 5 | g.149981140T>C | CA361708102 | SLC26A2 | c.1547T>C (p.Phe516Ser) c.372+2789T>C (n.372+2789T>C) | |
| 5 | g.149981140T>G | CA361708103 | SLC26A2 | c.1547T>G (p.Phe516Cys) c.372+2789T>G (n.372+2789T>G) | |
| 5 | g.149981141T>A | CA361708104 | SLC26A2 | c.1548T>A (p.Phe516Leu) c.372+2790T>A (n.372+2790T>A) | |
| 5 | g.149981141T>C | CA447402668 | SLC26A2 | c.1548T>C (p.Phe516=) c.372+2790T>C (n.372+2790T>C) | |
| 5 | g.149981141T>G | CA361708105 | SLC26A2 | c.1548T>G (p.Phe516Leu) c.372+2790T>G (n.372+2790T>G) | |
| 5 | g.149981142G>A | CA361708106 | SLC26A2 | c.1549G>A (p.Val517Ile) c.372+2791G>A (n.372+2791G>A) | |
| 5 | g.149981142G>C | CA361708107 | SLC26A2 | c.1549G>C (p.Val517Leu) c.372+2791G>C (n.372+2791G>C) | ClinVar |
| 5 | g.149981142G>T | CA361708108 | SLC26A2 | c.1549G>T (p.Val517Phe) c.372+2791G>T (n.372+2791G>T) | |
| 5 | g.149981143T>A | CA361708111 | SLC26A2 | c.1550T>A (p.Val517Asp) c.372+2792T>A (n.372+2792T>A) | |
| 5 | g.149981143T>C | CA361708109 | SLC26A2 | c.1550T>C (p.Val517Ala) c.372+2792T>C (n.372+2792T>C) | |
| 5 | g.149981143T>G | CA361708110 | SLC26A2 | c.1550T>G (p.Val517Gly) c.372+2792T>G (n.372+2792T>G) | gnomAD v4 |
| 5 | g.149981144T>A | CA3505457 | SLC26A2 | c.1551T>A (p.Val517=) c.372+2793T>A (n.372+2793T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981144T>C | CA129084440 | SLC26A2 | c.1551T>C (p.Val517=) c.372+2793T>C (n.372+2793T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981144T>G | CA447402674 | SLC26A2 | c.1551T>G (p.Val517=) c.372+2793T>G (n.372+2793T>G) | |
| 5 | g.149981144T= | CA1590738654 | SLC26A2 | c.1551T= (p.Val517=) c.372+2793T= (n.372+2793T=) | |
| 5 | g.149981145A>C | CA361708112 | SLC26A2 | c.1552A>C (p.Thr518Pro) c.372+2794A>C (n.372+2794A>C) |