| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981625_149981626delinsCT | CA2573052455 | SLC26A2 | c.2032_2033delinsCT (p.Gly678Leu) c.372+3274_372+3275delinsCT (n.372+3274_372+3275delinsCT) | ClinVar dbSNP |
| 5 | g.149981626G>A | CA361709668 | SLC26A2 | c.2033G>A (p.Gly678Glu) c.372+3275G>A (n.372+3275G>A) | |
| 5 | g.149981626G>C | CA361709669 | SLC26A2 | c.2033G>C (p.Gly678Ala) c.372+3275G>C (n.372+3275G>C) | |
| 5 | g.149981626G= | CA1590738863 | SLC26A2 | c.2033G= (p.Gly678=) c.372+3275G= (n.372+3275G=) | |
| 5 | g.149981626G>T | CA259844 | SLC26A2 | c.2033G>T (p.Gly678Val) c.372+3275G>T (n.372+3275G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981627A>C | CA447149056 | SLC26A2 | c.2034A>C (p.Gly678=) c.372+3276A>C (n.372+3276A>C) | |
| 5 | g.149981627A>G | CA447149057 | SLC26A2 | c.2034A>G (p.Gly678=) c.372+3276A>G (n.372+3276A>G) | ClinVar |
| 5 | g.149981627A>T | CA447149059 | SLC26A2 | c.2034A>T (p.Gly678=) c.372+3276A>T (n.372+3276A>T) | |
| 5 | g.149981628A>C | CA361709672 | SLC26A2 | c.2035A>C (p.Ile679Leu) c.372+3277A>C (n.372+3277A>C) | |
| 5 | g.149981628A>G | CA361709671 | SLC26A2 | c.2035A>G (p.Ile679Val) c.372+3277A>G (n.372+3277A>G) | |
| 5 | g.149981628A>T | CA361709670 | SLC26A2 | c.2035A>T (p.Ile679Phe) c.372+3277A>T (n.372+3277A>T) | |
| 5 | g.149981629T>A | CA361709673 | SLC26A2 | c.2036T>A (p.Ile679Asn) c.372+3278T>A (n.372+3278T>A) | |
| 5 | g.149981629T>C | CA361709674 | SLC26A2 | c.2036T>C (p.Ile679Thr) c.372+3278T>C (n.372+3278T>C) | |
| 5 | g.149981629T>G | CA361709675 | SLC26A2 | c.2036T>G (p.Ile679Ser) c.372+3278T>G (n.372+3278T>G) | |
| 5 | g.149981630C>A | CA447149072 | SLC26A2 | c.2037C>A (p.Ile679=) c.372+3279C>A (n.372+3279C>A) | |
| 5 | g.149981630C= | CA1590738864 | SLC26A2 | c.2037C= (p.Ile679=) c.372+3279C= (n.372+3279C=) | |
| 5 | g.149981630C>G | CA361709676 | SLC26A2 | c.2037C>G (p.Ile679Met) c.372+3279C>G (n.372+3279C>G) | ClinVar gnomAD v4 |
| 5 | g.149981630C>T | CA3505539 | SLC26A2 | c.2037C>T (p.Ile679=) c.372+3279C>T (n.372+3279C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981631C>A | CA361709677 | SLC26A2 | c.2038C>A (p.Gln680Lys) c.372+3280C>A (n.372+3280C>A) | |
| 5 | g.149981631C= | CA1590738865 | SLC26A2 | c.2038C= (p.Gln680=) c.372+3280C= (n.372+3280C=) | |
| 5 | g.149981631C>G | CA361709678 | SLC26A2 | c.2038C>G (p.Gln680Glu) c.372+3280C>G (n.372+3280C>G) | |
| 5 | g.149981631C>T | CA361709679 | SLC26A2 | c.2038C>T (p.Gln680Ter) c.372+3280C>T (n.372+3280C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981632A= | CA1590738866 | SLC26A2 | c.2039A= (p.Gln680=) c.372+3281A= (n.372+3281A=) | |
| 5 | g.149981632A>C | CA361709680 | SLC26A2 | c.2039A>C (p.Gln680Pro) c.372+3281A>C (n.372+3281A>C) | |
| 5 | g.149981632A>G | CA361709681 | SLC26A2 | c.2039A>G (p.Gln680Arg) c.372+3281A>G (n.372+3281A>G) | |
| 5 | g.149981632A>T | CA3505540 | SLC26A2 | c.2039A>T (p.Gln680Leu) c.372+3281A>T (n.372+3281A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981633G>A | CA447149085 | SLC26A2 | c.2040G>A (p.Gln680=) c.372+3282G>A (n.372+3282G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981633G>C | CA361709682 | SLC26A2 | c.2040G>C (p.Gln680His) c.372+3282G>C (n.372+3282G>C) | |
| 5 | g.149981633G= | CA1590738867 | SLC26A2 | c.2040G= (p.Gln680=) c.372+3282G= (n.372+3282G=) | |
| 5 | g.149981633G>T | CA361709683 | SLC26A2 | c.2040G>T (p.Gln680His) c.372+3282G>T (n.372+3282G>T) | COSMIC |
| 5 | g.149981634G>A | CA361709686 | SLC26A2 | c.2041G>A (p.Val681Ile) c.372+3283G>A (n.372+3283G>A) | |
| 5 | g.149981634G>C | CA361709685 | SLC26A2 | c.2041G>C (p.Val681Leu) c.372+3283G>C (n.372+3283G>C) | |
| 5 | g.149981634G>T | CA361709684 | SLC26A2 | c.2041G>T (p.Val681Phe) c.372+3283G>T (n.372+3283G>T) | |
| 5 | g.149981635T>A | CA361709687 | SLC26A2 | c.2042T>A (p.Val681Asp) c.372+3284T>A (n.372+3284T>A) | ClinVar dbSNP |
| 5 | g.149981635T>C | CA361709688 | SLC26A2 | c.2042T>C (p.Val681Ala) c.372+3284T>C (n.372+3284T>C) | |
| 5 | g.149981635T>G | CA361709689 | SLC26A2 | c.2042T>G (p.Val681Gly) c.372+3284T>G (n.372+3284T>G) | gnomAD v4 |
| 5 | g.149981635T= | CA1590738868 | SLC26A2 | c.2042T= (p.Val681=) c.372+3284T= (n.372+3284T=) | |
| 5 | g.149981636T>A | CA447149100 | SLC26A2 | c.2043T>A (p.Val681=) c.372+3285T>A (n.372+3285T>A) | |
| 5 | g.149981636T>C | CA447149106 | SLC26A2 | c.2043T>C (p.Val681=) c.372+3285T>C (n.372+3285T>C) | |
| 5 | g.149981636T>G | CA447149109 | SLC26A2 | c.2043T>G (p.Val681=) c.372+3285T>G (n.372+3285T>G) | |
| 5 | g.149981637C>A | CA361709690 | SLC26A2 | c.2044C>A (p.Leu682Met) c.372+3286C>A (n.372+3286C>A) | |
| 5 | g.149981637C= | CA1590738869 | SLC26A2 | c.2044C= (p.Leu682=) c.372+3286C= (n.372+3286C=) | |
| 5 | g.149981637C>G | CA3505541 | SLC26A2 | c.2044C>G (p.Leu682Val) c.372+3286C>G (n.372+3286C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981637C>T | CA447149110 | SLC26A2 | c.2044C>T (p.Leu682=) c.372+3286C>T (n.372+3286C>T) | |
| 5 | g.149981638T>A | CA361709691 | SLC26A2 | c.2045T>A (p.Leu682Gln) c.372+3287T>A (n.372+3287T>A) | |
| 5 | g.149981638T>C | CA361709692 | SLC26A2 | c.2045T>C (p.Leu682Pro) c.372+3287T>C (n.372+3287T>C) | |
| 5 | g.149981638T>G | CA361709693 | SLC26A2 | c.2045T>G (p.Leu682Arg) c.372+3287T>G (n.372+3287T>G) | |
| 5 | g.149981639G>A | CA3505542 | SLC26A2 | c.2046G>A (p.Leu682=) c.372+3288G>A (n.372+3288G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981639G>C | CA447149111 | SLC26A2 | c.2046G>C (p.Leu682=) c.372+3288G>C (n.372+3288G>C) | |
| 5 | g.149981639G= | CA1590738870 | SLC26A2 | c.2046G= (p.Leu682=) c.372+3288G= (n.372+3288G=) |