| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981187_149981188del | CA913108428 | SLC26A2 | c.1594_1595del (p.Leu532CysfsTer29) c.372+2836_372+2837del (n.372+2836_372+2837del) | |
| 5 | g.149981187_149981188delinsCT | CA1590738673 | SLC26A2 | c.1594_1595delinsCT (p.Leu532=) c.372+2836_372+2837delinsCT (n.372+2836_372+2837delinsCT) | |
| 5 | g.149981188T>A | CA361708197 | SLC26A2 | c.1595T>A (p.Leu532His) c.372+2837T>A (n.372+2837T>A) | |
| 5 | g.149981188T>C | CA361708199 | SLC26A2 | c.1595T>C (p.Leu532Pro) c.372+2837T>C (n.372+2837T>C) | |
| 5 | g.149981188T>G | CA361708198 | SLC26A2 | c.1595T>G (p.Leu532Arg) c.372+2837T>G (n.372+2837T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981188T= | CA1590738674 | SLC26A2 | c.1595T= (p.Leu532=) c.372+2837T= (n.372+2837T=) | |
| 5 | g.149981189del | CA658823313 | SLC26A2 | c.1596del (p.Val533LeufsTer?) c.372+2838del (n.372+2838del) | ClinVar dbSNP |
| 5 | g.149981189T>A | CA447402743 | SLC26A2 | c.1596T>A (p.Leu532=) c.372+2838T>A (n.372+2838T>A) | |
| 5 | g.149981189T>C | CA447402746 | SLC26A2 | c.1596T>C (p.Leu532=) c.372+2838T>C (n.372+2838T>C) | |
| 5 | g.149981189T>G | CA447402744 | SLC26A2 | c.1596T>G (p.Leu532=) c.372+2838T>G (n.372+2838T>G) | |
| 5 | g.149981190G>A | CA361708200 | SLC26A2 | c.1597G>A (p.Val533Ile) c.372+2839G>A (n.372+2839G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981190G>C | CA361708201 | SLC26A2 | c.1597G>C (p.Val533Leu) c.372+2839G>C (n.372+2839G>C) | gnomAD v4 |
| 5 | g.149981190G= | CA1590738675 | SLC26A2 | c.1597G= (p.Val533=) c.372+2839G= (n.372+2839G=) | |
| 5 | g.149981190G>T | CA361708202 | SLC26A2 | c.1597G>T (p.Val533Phe) c.372+2839G>T (n.372+2839G>T) | gnomAD v4 |
| 5 | g.149981191T>A | CA361708203 | SLC26A2 | c.1598T>A (p.Val533Asp) c.372+2840T>A (n.372+2840T>A) | |
| 5 | g.149981191T>C | CA361708204 | SLC26A2 | c.1598T>C (p.Val533Ala) c.372+2840T>C (n.372+2840T>C) | |
| 5 | g.149981191T>G | CA361708205 | SLC26A2 | c.1598T>G (p.Val533Gly) c.372+2840T>G (n.372+2840T>G) | |
| 5 | g.149981192T>A | CA447402749 | SLC26A2 | c.1599T>A (p.Val533=) c.372+2841T>A (n.372+2841T>A) | |
| 5 | g.149981192T>C | CA447402750 | SLC26A2 | c.1599T>C (p.Val533=) c.372+2841T>C (n.372+2841T>C) | |
| 5 | g.149981192T>G | CA447402751 | SLC26A2 | c.1599T>G (p.Val533=) c.372+2841T>G (n.372+2841T>G) | |
| 5 | g.149981193G>A | CA3505463 | SLC26A2 | c.1600G>A (p.Gly534Arg) c.372+2842G>A (n.372+2842G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981193G>C | CA361708206 | SLC26A2 | c.1600G>C (p.Gly534Arg) c.372+2842G>C (n.372+2842G>C) | |
| 5 | g.149981193G= | CA1590738676 | SLC26A2 | c.1600G= (p.Gly534=) c.372+2842G= (n.372+2842G=) | |
| 5 | g.149981193G>T | CA361708207 | SLC26A2 | c.1600G>T (p.Gly534Trp) c.372+2842G>T (n.372+2842G>T) | gnomAD v4 |
| 5 | g.149981194G>A | CA361708208 | SLC26A2 | c.1601G>A (p.Gly534Glu) c.372+2843G>A (n.372+2843G>A) | |
| 5 | g.149981194G>C | CA361708209 | SLC26A2 | c.1601G>C (p.Gly534Ala) c.372+2843G>C (n.372+2843G>C) | gnomAD v4 |
| 5 | g.149981194G>T | CA361708210 | SLC26A2 | c.1601G>T (p.Gly534Val) c.372+2843G>T (n.372+2843G>T) | gnomAD v4 |
| 5 | g.149981195_149981196insAAGATCCCTAAATTTACGAAGG | CA2547468802 | SLC26A2 | c.1602_1603insAAGATCCCTAAATTTACGAAGG (p.Val535LysfsTer34) c.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG (n.372+2844_372+2845insAAGATCCCTAAATTTACGAAGG) | |
| 5 | g.149981195G>A | CA447402752 | SLC26A2 | c.1602G>A (p.Gly534=) c.372+2844G>A (n.372+2844G>A) | |
| 5 | g.149981195G>C | CA447402753 | SLC26A2 | c.1602G>C (p.Gly534=) c.372+2844G>C (n.372+2844G>C) | |
| 5 | g.149981195G>T | CA447402754 | SLC26A2 | c.1602G>T (p.Gly534=) c.372+2844G>T (n.372+2844G>T) | |
| 5 | g.149981195_149981199delinsGGTTT | CA1590738677 | SLC26A2 | c.1602_1606delinsGGTTT (p.Gly534=) c.372+2844_372+2848delinsGGTTT (n.372+2844_372+2848delinsGGTTT) | |
| 5 | g.149981196_149981200del | CA913108429 | SLC26A2 | c.1603_1607del (p.Val535PhefsTer25) c.372+2845_372+2849del (n.372+2845_372+2849del) | |
| 5 | g.149981196G>A | CA361708213 | SLC26A2 | c.1603G>A (p.Val535Ile) c.372+2845G>A (n.372+2845G>A) | |
| 5 | g.149981196G>C | CA361708211 | SLC26A2 | c.1603G>C (p.Val535Leu) c.372+2845G>C (n.372+2845G>C) | |
| 5 | g.149981196G>T | CA361708212 | SLC26A2 | c.1603G>T (p.Val535Phe) c.372+2845G>T (n.372+2845G>T) | |
| 5 | g.149981200_149981203del | CA3505464 | SLC26A2 | c.1607_1610del (p.Cys536PhefsTer?) c.372+2849_372+2852del (n.372+2849_372+2852del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981197T>A | CA361708216 | SLC26A2 | c.1604T>A (p.Val535Asp) c.372+2846T>A (n.372+2846T>A) | |
| 5 | g.149981197T>C | CA361708214 | SLC26A2 | c.1604T>C (p.Val535Ala) c.372+2846T>C (n.372+2846T>C) | dbSNP |
| 5 | g.149981197T>G | CA361708215 | SLC26A2 | c.1604T>G (p.Val535Gly) c.372+2846T>G (n.372+2846T>G) | |
| 5 | g.149981197T= | CA1590738678 | SLC26A2 | c.1604T= (p.Val535=) c.372+2846T= (n.372+2846T=) | |
| 5 | g.149981198T>A | CA447402757 | SLC26A2 | c.1605T>A (p.Val535=) c.372+2847T>A (n.372+2847T>A) | |
| 5 | g.149981198T>C | CA447402756 | SLC26A2 | c.1605T>C (p.Val535=) c.372+2847T>C (n.372+2847T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981198T>G | CA447402755 | SLC26A2 | c.1605T>G (p.Val535=) c.372+2847T>G (n.372+2847T>G) | |
| 5 | g.149981198T= | CA1590738679 | SLC26A2 | c.1605T= (p.Val535=) c.372+2847T= (n.372+2847T=) | |
| 5 | g.149981199T>A | CA361708217 | SLC26A2 | c.1606T>A (p.Cys536Ser) c.372+2848T>A (n.372+2848T>A) | |
| 5 | g.149981199T>C | CA361708218 | SLC26A2 | c.1606T>C (p.Cys536Arg) c.372+2848T>C (n.372+2848T>C) | |
| 5 | g.149981199T>G | CA361708219 | SLC26A2 | c.1606T>G (p.Cys536Gly) c.372+2848T>G (n.372+2848T>G) | |
| 5 | g.149981200G>A | CA361708220 | SLC26A2 | c.1607G>A (p.Cys536Tyr) c.372+2849G>A (n.372+2849G>A) | dbSNP |
| 5 | g.149981200G>C | CA361708221 | SLC26A2 | c.1607G>C (p.Cys536Ser) c.372+2849G>C (n.372+2849G>C) | |
| 5 | g.149981200G>T | CA361708222 | SLC26A2 | c.1607G>T (p.Cys536Phe) c.372+2849G>T (n.372+2849G>T) | |
| 5 | g.149981200_149981201delinsGT | CA1590738680 | SLC26A2 | c.1607_1608delinsGT (p.Cys536=) c.372+2849_372+2850delinsGT (n.372+2849_372+2850delinsGT) | |
| 5 | g.149981201T>A | CA361708223 | SLC26A2 | c.1608T>A (p.Cys536Ter) c.372+2850T>A (n.372+2850T>A) | |
| 5 | g.149981201T>C | CA447402759 | SLC26A2 | c.1608T>C (p.Cys536=) c.372+2850T>C (n.372+2850T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981201T>G | CA361708224 | SLC26A2 | c.1608T>G (p.Cys536Trp) c.372+2850T>G (n.372+2850T>G) | |
| 5 | g.149981201T= | CA1590738682 | SLC26A2 | c.1608T= (p.Cys536=) c.372+2850T= (n.372+2850T=) | |
| 5 | g.149981205del | CA1590738681 | SLC26A2 | c.1612del (p.Ser538LeufsTer?) c.372+2854del (n.372+2854del) | dbSNP |
| 5 | g.149981202T>A | CA361708225 | SLC26A2 | c.1609T>A (p.Phe537Ile) c.372+2851T>A (n.372+2851T>A) | |
| 5 | g.149981202T>C | CA3505465 | SLC26A2 | c.1609T>C (p.Phe537Leu) c.372+2851T>C (n.372+2851T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981202T>G | CA361708226 | SLC26A2 | c.1609T>G (p.Phe537Val) c.372+2851T>G (n.372+2851T>G) | |
| 5 | g.149981202T= | CA1590738683 | SLC26A2 | c.1609T= (p.Phe537=) c.372+2851T= (n.372+2851T=) | |
| 5 | g.149981203T>A | CA361708227 | SLC26A2 | c.1610T>A (p.Phe537Tyr) c.372+2852T>A (n.372+2852T>A) | |
| 5 | g.149981203T>C | CA361708229 | SLC26A2 | c.1610T>C (p.Phe537Ser) c.372+2852T>C (n.372+2852T>C) | |
| 5 | g.149981203T>G | CA361708228 | SLC26A2 | c.1610T>G (p.Phe537Cys) c.372+2852T>G (n.372+2852T>G) | |
| 5 | g.149981204T>A | CA361708230 | SLC26A2 | c.1611T>A (p.Phe537Leu) c.372+2853T>A (n.372+2853T>A) | |
| 5 | g.149981204T>C | CA447402760 | SLC26A2 | c.1611T>C (p.Phe537=) c.372+2853T>C (n.372+2853T>C) | |
| 5 | g.149981204T>G | CA361708231 | SLC26A2 | c.1611T>G (p.Phe537Leu) c.372+2853T>G (n.372+2853T>G) | |
| 5 | g.149981205T>A | CA361708232 | SLC26A2 | c.1612T>A (p.Ser538Thr) c.372+2854T>A (n.372+2854T>A) | |
| 5 | g.149981205T>C | CA361708233 | SLC26A2 | c.1612T>C (p.Ser538Pro) c.372+2854T>C (n.372+2854T>C) | |
| 5 | g.149981205T>G | CA361708234 | SLC26A2 | c.1612T>G (p.Ser538Ala) c.372+2854T>G (n.372+2854T>G) | |
| 5 | g.149981206C>A | CA361708235 | SLC26A2 | c.1613C>A (p.Ser538Tyr) c.372+2855C>A (n.372+2855C>A) | |
| 5 | g.149981206C>G | CA361708236 | SLC26A2 | c.1613C>G (p.Ser538Cys) c.372+2855C>G (n.372+2855C>G) | |
| 5 | g.149981206C>T | CA361708237 | SLC26A2 | c.1613C>T (p.Ser538Phe) c.372+2855C>T (n.372+2855C>T) | |
| 5 | g.149981207T>A | CA447402766 | SLC26A2 | c.1614T>A (p.Ser538=) c.372+2856T>A (n.372+2856T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981207T>C | CA447402768 | SLC26A2 | c.1614T>C (p.Ser538=) c.372+2856T>C (n.372+2856T>C) | |
| 5 | g.149981207T>G | CA447402769 | SLC26A2 | c.1614T>G (p.Ser538=) c.372+2856T>G (n.372+2856T>G) | |
| 5 | g.149981207T= | CA1590738684 | SLC26A2 | c.1614T= (p.Ser538=) c.372+2856T= (n.372+2856T=) | |
| 5 | g.149981208A= | CA1590738685 | SLC26A2 | c.1615A= (p.Ile539=) c.372+2857A= (n.372+2857A=) | |
| 5 | g.149981208A>C | CA361708238 | SLC26A2 | c.1615A>C (p.Ile539Leu) c.372+2857A>C (n.372+2857A>C) | gnomAD v4 |
| 5 | g.149981208A>G | CA361708239 | SLC26A2 | c.1615A>G (p.Ile539Val) c.372+2857A>G (n.372+2857A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981208A>T | CA361708240 | SLC26A2 | c.1615A>T (p.Ile539Leu) c.372+2857A>T (n.372+2857A>T) | |
| 5 | g.149981209T>A | CA361708243 | SLC26A2 | c.1616T>A (p.Ile539Lys) c.372+2858T>A (n.372+2858T>A) | ClinVar gnomAD v4 |
| 5 | g.149981209T>C | CA361708242 | SLC26A2 | c.1616T>C (p.Ile539Thr) c.372+2858T>C (n.372+2858T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981209T>G | CA361708241 | SLC26A2 | c.1616T>G (p.Ile539Arg) c.372+2858T>G (n.372+2858T>G) | |
| 5 | g.149981209T= | CA1590738686 | SLC26A2 | c.1616T= (p.Ile539=) c.372+2858T= (n.372+2858T=) | |
| 5 | g.149981210A>C | CA447402771 | SLC26A2 | c.1617A>C (p.Ile539=) c.372+2859A>C (n.372+2859A>C) | |
| 5 | g.149981210A>G | CA361708244 | SLC26A2 | c.1617A>G (p.Ile539Met) c.372+2859A>G (n.372+2859A>G) | dbSNP |
| 5 | g.149981210A>T | CA447402772 | SLC26A2 | c.1617A>T (p.Ile539=) c.372+2859A>T (n.372+2859A>T) | |
| 5 | g.149981211T>A | CA361708247 | SLC26A2 | c.1618T>A (p.Phe540Ile) c.372+2860T>A (n.372+2860T>A) | |
| 5 | g.149981211T>C | CA361708245 | SLC26A2 | c.1618T>C (p.Phe540Leu) c.372+2860T>C (n.372+2860T>C) | gnomAD v4 |
| 5 | g.149981211T>G | CA361708246 | SLC26A2 | c.1618T>G (p.Phe540Val) c.372+2860T>G (n.372+2860T>G) | |
| 5 | g.149981212T>A | CA361708248 | SLC26A2 | c.1619T>A (p.Phe540Tyr) c.372+2861T>A (n.372+2861T>A) | |
| 5 | g.149981212T>C | CA361708249 | SLC26A2 | c.1619T>C (p.Phe540Ser) c.372+2861T>C (n.372+2861T>C) | |
| 5 | g.149981212T>G | CA361708250 | SLC26A2 | c.1619T>G (p.Phe540Cys) c.372+2861T>G (n.372+2861T>G) | |
| 5 | g.149981213T>A | CA361708251 | SLC26A2 | c.1620T>A (p.Phe540Leu) c.372+2862T>A (n.372+2862T>A) | |
| 5 | g.149981213T>C | CA447402774 | SLC26A2 | c.1620T>C (p.Phe540=) c.372+2862T>C (n.372+2862T>C) | |
| 5 | g.149981213T>G | CA3505466 | SLC26A2 | c.1620T>G (p.Phe540Leu) c.372+2862T>G (n.372+2862T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981213T= | CA1590738687 | SLC26A2 | c.1620T= (p.Phe540=) c.372+2862T= (n.372+2862T=) | |
| 5 | g.149981214T>A | CA361708252 | SLC26A2 | c.1621T>A (p.Cys541Ser) c.372+2863T>A (n.372+2863T>A) | |
| 5 | g.149981214T>C | CA361708253 | SLC26A2 | c.1621T>C (p.Cys541Arg) c.372+2863T>C (n.372+2863T>C) | |
| 5 | g.149981214T>G | CA361708254 | SLC26A2 | c.1621T>G (p.Cys541Gly) c.372+2863T>G (n.372+2863T>G) | |
| 5 | g.149981215G>A | CA361708255 | SLC26A2 | c.1622G>A (p.Cys541Tyr) c.372+2864G>A (n.372+2864G>A) | |
| 5 | g.149981215G>C | CA361708256 | SLC26A2 | c.1622G>C (p.Cys541Ser) c.372+2864G>C (n.372+2864G>C) | |
| 5 | g.149981215G>T | CA361708257 | SLC26A2 | c.1622G>T (p.Cys541Phe) c.372+2864G>T (n.372+2864G>T) | |
| 5 | g.149981216T>A | CA361708259 | SLC26A2 | c.1623T>A (p.Cys541Ter) c.372+2865T>A (n.372+2865T>A) | |
| 5 | g.149981216T>C | CA447402777 | SLC26A2 | c.1623T>C (p.Cys541=) c.372+2865T>C (n.372+2865T>C) | |
| 5 | g.149981216T>G | CA361708258 | SLC26A2 | c.1623T>G (p.Cys541Trp) c.372+2865T>G (n.372+2865T>G) | |
| 5 | g.149981217G>A | CA361708260 | SLC26A2 | c.1624G>A (p.Val542Ile) c.372+2866G>A (n.372+2866G>A) | |
| 5 | g.149981217G>C | CA361708261 | SLC26A2 | c.1624G>C (p.Val542Leu) c.372+2866G>C (n.372+2866G>C) | |
| 5 | g.149981217G>T | CA361708262 | SLC26A2 | c.1624G>T (p.Val542Phe) c.372+2866G>T (n.372+2866G>T) | |
| 5 | g.149981217_149981243delinsGTCATCCTCCGCACTCAGAAGCCAAAG | CA1590738688 | SLC26A2 | c.1624_1650delinsGTCATCCTCCGCACTCAGAAGCCAAAG (p.Val542=) c.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG (n.372+2866_372+2892delinsGTCATCCTCCGCACTCAGAAGCCAAAG) | |
| 5 | g.149981218T>A | CA361708263 | SLC26A2 | c.1625T>A (p.Val542Asp) c.372+2867T>A (n.372+2867T>A) | |
| 5 | g.149981218T>C | CA361708264 | SLC26A2 | c.1625T>C (p.Val542Ala) c.372+2867T>C (n.372+2867T>C) | |
| 5 | g.149981218T>G | CA361708265 | SLC26A2 | c.1625T>G (p.Val542Gly) c.372+2867T>G (n.372+2867T>G) | |
| 5 | g.149981218_149981243delinsAACACCA | CA1139659141 | SLC26A2 | c.1625_1650delinsAACACCA (p.Val542GlufsTer?) c.372+2867_372+2892delinsAACACCA (n.372+2867_372+2892delinsAACACCA) | ClinVar dbSNP |
| 5 | g.149981219C>A | CA447402784 | SLC26A2 | c.1626C>A (p.Val542=) c.372+2868C>A (n.372+2868C>A) | |
| 5 | g.149981219C= | CA1590738689 | SLC26A2 | c.1626C= (p.Val542=) c.372+2868C= (n.372+2868C=) | |
| 5 | g.149981219C>G | CA129084479 | SLC26A2 | c.1626C>G (p.Val542=) c.372+2868C>G (n.372+2868C>G) | dbSNP |
| 5 | g.149981219C>T | CA447402782 | SLC26A2 | c.1626C>T (p.Val542=) c.372+2868C>T (n.372+2868C>T) | |
| 5 | g.149981220A>C | CA361708266 | SLC26A2 | c.1627A>C (p.Ile543Leu) c.372+2869A>C (n.372+2869A>C) | |
| 5 | g.149981220A>G | CA361708267 | SLC26A2 | c.1627A>G (p.Ile543Val) c.372+2869A>G (n.372+2869A>G) | |
| 5 | g.149981220A>T | CA361708268 | SLC26A2 | c.1627A>T (p.Ile543Phe) c.372+2869A>T (n.372+2869A>T) | |
| 5 | g.149981221T>A | CA361708269 | SLC26A2 | c.1628T>A (p.Ile543Asn) c.372+2870T>A (n.372+2870T>A) | |
| 5 | g.149981221T>C | CA361708270 | SLC26A2 | c.1628T>C (p.Ile543Thr) c.372+2870T>C (n.372+2870T>C) | |
| 5 | g.149981221T>G | CA361708271 | SLC26A2 | c.1628T>G (p.Ile543Ser) c.372+2870T>G (n.372+2870T>G) | |
| 5 | g.149981222C>A | CA447402785 | SLC26A2 | c.1629C>A (p.Ile543=) c.372+2871C>A (n.372+2871C>A) | |
| 5 | g.149981222C= | CA1590738690 | SLC26A2 | c.1629C= (p.Ile543=) c.372+2871C= (n.372+2871C=) | |
| 5 | g.149981222C>G | CA361708272 | SLC26A2 | c.1629C>G (p.Ile543Met) c.372+2871C>G (n.372+2871C>G) | |
| 5 | g.149981222C>T | CA3505467 | SLC26A2 | c.1629C>T (p.Ile543=) c.372+2871C>T (n.372+2871C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981223del | CA2580073925 | SLC26A2 | c.1630del (p.Leu544SerfsTer?) c.372+2872del (n.372+2872del) | ClinVar |
| 5 | g.149981223C>A | CA361708273 | SLC26A2 | c.1630C>A (p.Leu544Ile) c.372+2872C>A (n.372+2872C>A) | dbSNP |
| 5 | g.149981223C= | CA1590738691 | SLC26A2 | c.1630C= (p.Leu544=) c.372+2872C= (n.372+2872C=) | |
| 5 | g.149981223C>G | CA361708274 | SLC26A2 | c.1630C>G (p.Leu544Val) c.372+2872C>G (n.372+2872C>G) | |
| 5 | g.149981223C>T | CA361708275 | SLC26A2 | c.1630C>T (p.Leu544Phe) c.372+2872C>T (n.372+2872C>T) | |
| 5 | g.149981224T>A | CA361708276 | SLC26A2 | c.1631T>A (p.Leu544His) c.372+2873T>A (n.372+2873T>A) | |
| 5 | g.149981224T>C | CA361708277 | SLC26A2 | c.1631T>C (p.Leu544Pro) c.372+2873T>C (n.372+2873T>C) | |
| 5 | g.149981224T>G | CA361708278 | SLC26A2 | c.1631T>G (p.Leu544Arg) c.372+2873T>G (n.372+2873T>G) | |
| 5 | g.149981225C>A | CA447402789 | SLC26A2 | c.1632C>A (p.Leu544=) c.372+2874C>A (n.372+2874C>A) | ClinVar |
| 5 | g.149981225C= | CA1590738692 | SLC26A2 | c.1632C= (p.Leu544=) c.372+2874C= (n.372+2874C=) | |
| 5 | g.149981225C>G | CA447402790 | SLC26A2 | c.1632C>G (p.Leu544=) c.372+2874C>G (n.372+2874C>G) | ClinVar dbSNP |
| 5 | g.149981225C>T | CA447402792 | SLC26A2 | c.1632C>T (p.Leu544=) c.372+2874C>T (n.372+2874C>T) | |
| 5 | g.149981226C>A | CA361708280 | SLC26A2 | c.1633C>A (p.Arg545Ser) c.372+2875C>A (n.372+2875C>A) | gnomAD v4 |
| 5 | g.149981226C= | CA1590738693 | SLC26A2 | c.1633C= (p.Arg545=) c.372+2875C= (n.372+2875C=) | |
| 5 | g.149981226C>G | CA361708279 | SLC26A2 | c.1633C>G (p.Arg545Gly) c.372+2875C>G (n.372+2875C>G) | |
| 5 | g.149981226C>T | CA3505468 | SLC26A2 | c.1633C>T (p.Arg545Cys) c.372+2875C>T (n.372+2875C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981227G>A | CA3505469 | SLC26A2 | c.1634G>A (p.Arg545His) c.372+2876G>A (n.372+2876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981227G>C | CA361708281 | SLC26A2 | c.1634G>C (p.Arg545Pro) c.372+2876G>C (n.372+2876G>C) | |
| 5 | g.149981227G= | CA1590738694 | SLC26A2 | c.1634G= (p.Arg545=) c.372+2876G= (n.372+2876G=) | |
| 5 | g.149981227G>T | CA361708282 | SLC26A2 | c.1634G>T (p.Arg545Leu) c.372+2876G>T (n.372+2876G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981228C>A | CA447402796 | SLC26A2 | c.1635C>A (p.Arg545=) c.372+2877C>A (n.372+2877C>A) | |
| 5 | g.149981228C>G | CA447402797 | SLC26A2 | c.1635C>G (p.Arg545=) c.372+2877C>G (n.372+2877C>G) | |
| 5 | g.149981228C>T | CA447402798 | SLC26A2 | c.1635C>T (p.Arg545=) c.372+2877C>T (n.372+2877C>T) | |
| 5 | g.149981229A= | CA1590738695 | SLC26A2 | c.1636A= (p.Thr546=) c.372+2878A= (n.372+2878A=) | |
| 5 | g.149981229A>C | CA361708283 | SLC26A2 | c.1636A>C (p.Thr546Pro) c.372+2878A>C (n.372+2878A>C) | |
| 5 | g.149981229A>G | CA3505470 | SLC26A2 | c.1636A>G (p.Thr546Ala) c.372+2878A>G (n.372+2878A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981229A>T | CA361708284 | SLC26A2 | c.1636A>T (p.Thr546Ser) c.372+2878A>T (n.372+2878A>T) | |
| 5 | g.149981230C>A | CA361708285 | SLC26A2 | c.1637C>A (p.Thr546Asn) c.372+2879C>A (n.372+2879C>A) | |
| 5 | g.149981230C>G | CA361708287 | SLC26A2 | c.1637C>G (p.Thr546Ser) c.372+2879C>G (n.372+2879C>G) | |
| 5 | g.149981230C>T | CA361708286 | SLC26A2 | c.1637C>T (p.Thr546Ile) c.372+2879C>T (n.372+2879C>T) | dbSNP |
| 5 | g.149981231T>A | CA447402801 | SLC26A2 | c.1638T>A (p.Thr546=) c.372+2880T>A (n.372+2880T>A) | |
| 5 | g.149981231T>C | CA447402802 | SLC26A2 | c.1638T>C (p.Thr546=) c.372+2880T>C (n.372+2880T>C) | |
| 5 | g.149981231T>G | CA447402804 | SLC26A2 | c.1638T>G (p.Thr546=) c.372+2880T>G (n.372+2880T>G) | |
| 5 | g.149981232C>A | CA361708288 | SLC26A2 | c.1639C>A (p.Gln547Lys) c.372+2881C>A (n.372+2881C>A) | |
| 5 | g.149981232C= | CA1590738696 | SLC26A2 | c.1639C= (p.Gln547=) c.372+2881C= (n.372+2881C=) | |
| 5 | g.149981232C>G | CA361708289 | SLC26A2 | c.1639C>G (p.Gln547Glu) c.372+2881C>G (n.372+2881C>G) | |
| 5 | g.149981232C>T | CA3505471 | SLC26A2 | c.1639C>T (p.Gln547Ter) c.372+2881C>T (n.372+2881C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981233A>C | CA361708290 | SLC26A2 | c.1640A>C (p.Gln547Pro) c.372+2882A>C (n.372+2882A>C) | |
| 5 | g.149981233A>G | CA361708291 | SLC26A2 | c.1640A>G (p.Gln547Arg) c.372+2882A>G (n.372+2882A>G) | |
| 5 | g.149981233A>T | CA361708292 | SLC26A2 | c.1640A>T (p.Gln547Leu) c.372+2882A>T (n.372+2882A>T) | |
| 5 | g.149981234G>A | CA447402808 | SLC26A2 | c.1641G>A (p.Gln547=) c.372+2883G>A (n.372+2883G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981234G>C | CA361708293 | SLC26A2 | c.1641G>C (p.Gln547His) c.372+2883G>C (n.372+2883G>C) | |
| 5 | g.149981234G= | CA1590738697 | SLC26A2 | c.1641G= (p.Gln547=) c.372+2883G= (n.372+2883G=) | |
| 5 | g.149981234G>T | CA361708294 | SLC26A2 | c.1641G>T (p.Gln547His) c.372+2883G>T (n.372+2883G>T) | |
| 5 | g.149981235A>C | CA361708295 | SLC26A2 | c.1642A>C (p.Lys548Gln) c.372+2884A>C (n.372+2884A>C) | |
| 5 | g.149981235A>G | CA361708296 | SLC26A2 | c.1642A>G (p.Lys548Glu) c.372+2884A>G (n.372+2884A>G) | |
| 5 | g.149981235A>T | CA361708297 | SLC26A2 | c.1642A>T (p.Lys548Ter) c.372+2884A>T (n.372+2884A>T) | |
| 5 | g.149981236A>C | CA361708300 | SLC26A2 | c.1643A>C (p.Lys548Thr) c.372+2885A>C (n.372+2885A>C) | |
| 5 | g.149981236A>G | CA361708298 | SLC26A2 | c.1643A>G (p.Lys548Arg) c.372+2885A>G (n.372+2885A>G) | |
| 5 | g.149981236A>T | CA361708299 | SLC26A2 | c.1643A>T (p.Lys548Met) c.372+2885A>T (n.372+2885A>T) | |
| 5 | g.149981237G>A | CA447402812 | SLC26A2 | c.1644G>A (p.Lys548=) c.372+2886G>A (n.372+2886G>A) | ClinVar dbSNP |
| 5 | g.149981237G>C | CA361708301 | SLC26A2 | c.1644G>C (p.Lys548Asn) c.372+2886G>C (n.372+2886G>C) | |
| 5 | g.149981237G>T | CA361708302 | SLC26A2 | c.1644G>T (p.Lys548Asn) c.372+2886G>T (n.372+2886G>T) | |
| 5 | g.149981238C>A | CA361708303 | SLC26A2 | c.1645C>A (p.Pro549Thr) c.372+2887C>A (n.372+2887C>A) | |
| 5 | g.149981238C>G | CA361708304 | SLC26A2 | c.1645C>G (p.Pro549Ala) c.372+2887C>G (n.372+2887C>G) | |
| 5 | g.149981238C>T | CA361708305 | SLC26A2 | c.1645C>T (p.Pro549Ser) c.372+2887C>T (n.372+2887C>T) | |
| 5 | g.149981239C>A | CA361708306 | SLC26A2 | c.1646C>A (p.Pro549Gln) c.372+2888C>A (n.372+2888C>A) | |
| 5 | g.149981239C= | CA1590738698 | SLC26A2 | c.1646C= (p.Pro549=) c.372+2888C= (n.372+2888C=) | |
| 5 | g.149981239C>G | CA361708307 | SLC26A2 | c.1646C>G (p.Pro549Arg) c.372+2888C>G (n.372+2888C>G) | |
| 5 | g.149981239C>T | CA129084531 | SLC26A2 | c.1646C>T (p.Pro549Leu) c.372+2888C>T (n.372+2888C>T) | dbSNP |
| 5 | g.149981239_149981240delinsCA | CA1590738699 | SLC26A2 | c.1646_1647delinsCA (p.Pro549=) c.372+2888_372+2889delinsCA (n.372+2888_372+2889delinsCA) | |
| 5 | g.149981240A= | CA1590738700 | SLC26A2 | c.1647A= (p.Pro549=) c.372+2889A= (n.372+2889A=) | |
| 5 | g.149981240A>C | CA447402814 | SLC26A2 | c.1647A>C (p.Pro549=) c.372+2889A>C (n.372+2889A>C) | |
| 5 | g.149981240A>G | CA3505472 | SLC26A2 | c.1647A>G (p.Pro549=) c.372+2889A>G (n.372+2889A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981240A>T | CA447402813 | SLC26A2 | c.1647A>T (p.Pro549=) c.372+2889A>T (n.372+2889A>T) | |
| 5 | g.149981242del | CA16040998 | SLC26A2 | c.1649del (p.Lys550ArgfsTer?) c.372+2891del (n.372+2891del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981241A>C | CA361708310 | SLC26A2 | c.1648A>C (p.Lys550Gln) c.372+2890A>C (n.372+2890A>C) | gnomAD v4 |
| 5 | g.149981241A>G | CA361708308 | SLC26A2 | c.1648A>G (p.Lys550Glu) c.372+2890A>G (n.372+2890A>G) | gnomAD v4 |
| 5 | g.149981241A>T | CA361708309 | SLC26A2 | c.1648A>T (p.Lys550Ter) c.372+2890A>T (n.372+2890A>T) | |
| 5 | g.149981242A= | CA1590738702 | SLC26A2 | c.1649A= (p.Lys550=) c.372+2891A= (n.372+2891A=) | |
| 5 | g.149981242A>C | CA361708311 | SLC26A2 | c.1649A>C (p.Lys550Thr) c.372+2891A>C (n.372+2891A>C) | dbSNP gnomAD v4 |
| 5 | g.149981242A>G | CA361708312 | SLC26A2 | c.1649A>G (p.Lys550Arg) c.372+2891A>G (n.372+2891A>G) | gnomAD v4 |
| 5 | g.149981242A>T | CA361708313 | SLC26A2 | c.1649A>T (p.Lys550Met) c.372+2891A>T (n.372+2891A>T) | |
| 5 | g.149981242_149981243delinsAG | CA1590738701 | SLC26A2 | c.1649_1650delinsAG (p.Lys550=) c.372+2891_372+2892delinsAG (n.372+2891_372+2892delinsAG) | |
| 5 | g.149981243del | CA263255 | SLC26A2 | c.1650del (p.Ser551ValfsTer?) c.372+2892del (n.372+2892del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981243G>A | CA447402816 | SLC26A2 | c.1650G>A (p.Lys550=) c.372+2892G>A (n.372+2892G>A) | |
| 5 | g.149981243G>C | CA361708314 | SLC26A2 | c.1650G>C (p.Lys550Asn) c.372+2892G>C (n.372+2892G>C) | |
| 5 | g.149981243G>T | CA361708315 | SLC26A2 | c.1650G>T (p.Lys550Asn) c.372+2892G>T (n.372+2892G>T) | gnomAD v4 |
| 5 | g.149981244A>C | CA361708318 | SLC26A2 | c.1651A>C (p.Ser551Arg) c.372+2893A>C (n.372+2893A>C) | |
| 5 | g.149981244A>G | CA361708316 | SLC26A2 | c.1651A>G (p.Ser551Gly) c.372+2893A>G (n.372+2893A>G) | |
| 5 | g.149981244A>T | CA361708317 | SLC26A2 | c.1651A>T (p.Ser551Cys) c.372+2893A>T (n.372+2893A>T) | gnomAD v4 |
| 5 | g.149981245G>A | CA361708319 | SLC26A2 | c.1652G>A (p.Ser551Asn) c.372+2894G>A (n.372+2894G>A) | |
| 5 | g.149981245G>C | CA361708320 | SLC26A2 | c.1652G>C (p.Ser551Thr) c.372+2894G>C (n.372+2894G>C) | |
| 5 | g.149981245G>T | CA361708321 | SLC26A2 | c.1652G>T (p.Ser551Ile) c.372+2894G>T (n.372+2894G>T) | |
| 5 | g.149981246T>A | CA361708322 | SLC26A2 | c.1653T>A (p.Ser551Arg) c.372+2895T>A (n.372+2895T>A) | |
| 5 | g.149981246T>C | CA447402817 | SLC26A2 | c.1653T>C (p.Ser551=) c.372+2895T>C (n.372+2895T>C) | gnomAD v4 |
| 5 | g.149981246T>G | CA361708323 | SLC26A2 | c.1653T>G (p.Ser551Arg) c.372+2895T>G (n.372+2895T>G) | |
| 5 | g.149981247del | CA2675943652 | SLC26A2 | c.1654del (p.Ser552HisfsTer?) c.372+2896del (n.372+2896del) | gnomAD v4 |
| 5 | g.149981247T>A | CA361708324 | SLC26A2 | c.1654T>A (p.Ser552Thr) c.372+2896T>A (n.372+2896T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981247T>C | CA361708325 | SLC26A2 | c.1654T>C (p.Ser552Pro) c.372+2896T>C (n.372+2896T>C) | |
| 5 | g.149981247T>G | CA361708326 | SLC26A2 | c.1654T>G (p.Ser552Ala) c.372+2896T>G (n.372+2896T>G) | |
| 5 | g.149981247T= | CA1590738703 | SLC26A2 | c.1654T= (p.Ser552=) c.372+2896T= (n.372+2896T=) | |
| 5 | g.149981248C>A | CA361708329 | SLC26A2 | c.1655C>A (p.Ser552Ter) c.372+2897C>A (n.372+2897C>A) | ClinVar dbSNP |
| 5 | g.149981248C= | CA1590738704 | SLC26A2 | c.1655C= (p.Ser552=) c.372+2897C= (n.372+2897C=) | |
| 5 | g.149981248C>G | CA361708327 | SLC26A2 | c.1655C>G (p.Ser552Ter) c.372+2897C>G (n.372+2897C>G) | gnomAD v4 |
| 5 | g.149981248C>T | CA361708328 | SLC26A2 | c.1655C>T (p.Ser552Leu) c.372+2897C>T (n.372+2897C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981249A= | CA1590738705 | SLC26A2 | c.1656A= (p.Ser552=) c.372+2898A= (n.372+2898A=) | |
| 5 | g.149981249A>C | CA447402821 | SLC26A2 | c.1656A>C (p.Ser552=) c.372+2898A>C (n.372+2898A>C) | |
| 5 | g.149981249A>G | CA129084549 | SLC26A2 | c.1656A>G (p.Ser552=) c.372+2898A>G (n.372+2898A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981249A>T | CA447402823 | SLC26A2 | c.1656A>T (p.Ser552=) c.372+2898A>T (n.372+2898A>T) | |
| 5 | g.149981250C>A | CA361708330 | SLC26A2 | c.1657C>A (p.Leu553Met) c.372+2899C>A (n.372+2899C>A) | |
| 5 | g.149981250C>G | CA361708331 | SLC26A2 | c.1657C>G (p.Leu553Val) c.372+2899C>G (n.372+2899C>G) | |
| 5 | g.149981250C>T | CA447402826 | SLC26A2 | c.1657C>T (p.Leu553=) c.372+2899C>T (n.372+2899C>T) | dbSNP |
| 5 | g.149981251T>A | CA361708332 | SLC26A2 | c.1658T>A (p.Leu553Gln) c.372+2900T>A (n.372+2900T>A) | |
| 5 | g.149981251T>C | CA361708333 | SLC26A2 | c.1658T>C (p.Leu553Pro) c.372+2900T>C (n.372+2900T>C) | |
| 5 | g.149981251T>G | CA361708334 | SLC26A2 | c.1658T>G (p.Leu553Arg) c.372+2900T>G (n.372+2900T>G) | |
| 5 | g.149981252G>A | CA447402827 | SLC26A2 | c.1659G>A (p.Leu553=) c.372+2901G>A (n.372+2901G>A) | |
| 5 | g.149981252G>C | CA447402828 | SLC26A2 | c.1659G>C (p.Leu553=) c.372+2901G>C (n.372+2901G>C) | |
| 5 | g.149981252G= | CA1590738706 | SLC26A2 | c.1659G= (p.Leu553=) c.372+2901G= (n.372+2901G=) | |
| 5 | g.149981252G>T | CA447402829 | SLC26A2 | c.1659G>T (p.Leu553=) c.372+2901G>T (n.372+2901G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981253C>A | CA361708335 | SLC26A2 | c.1660C>A (p.Leu554Ile) c.372+2902C>A (n.372+2902C>A) | |
| 5 | g.149981253C>G | CA361708336 | SLC26A2 | c.1660C>G (p.Leu554Val) c.372+2902C>G (n.372+2902C>G) | |
| 5 | g.149981253C>T | CA361708337 | SLC26A2 | c.1660C>T (p.Leu554Phe) c.372+2902C>T (n.372+2902C>T) | gnomAD v4 |
| 5 | g.149981254T>A | CA361708338 | SLC26A2 | c.1661T>A (p.Leu554His) c.372+2903T>A (n.372+2903T>A) | |
| 5 | g.149981254T>C | CA361708339 | SLC26A2 | c.1661T>C (p.Leu554Pro) c.372+2903T>C (n.372+2903T>C) | |
| 5 | g.149981254T>G | CA361708340 | SLC26A2 | c.1661T>G (p.Leu554Arg) c.372+2903T>G (n.372+2903T>G) | |
| 5 | g.149981255T>A | CA3505473 | SLC26A2 | c.1662T>A (p.Leu554=) c.372+2904T>A (n.372+2904T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981255T>C | CA447402832 | SLC26A2 | c.1662T>C (p.Leu554=) c.372+2904T>C (n.372+2904T>C) | |
| 5 | g.149981255T>G | CA447402831 | SLC26A2 | c.1662T>G (p.Leu554=) c.372+2904T>G (n.372+2904T>G) | |
| 5 | g.149981255T= | CA1590738707 | SLC26A2 | c.1662T= (p.Leu554=) c.372+2904T= (n.372+2904T=) | |
| 5 | g.149981256G>A | CA361708345 | SLC26A2 | c.1663G>A (p.Gly555Ser) c.372+2905G>A (n.372+2905G>A) | |
| 5 | g.149981256G>C | CA361708344 | SLC26A2 | c.1663G>C (p.Gly555Arg) c.372+2905G>C (n.372+2905G>C) | |
| 5 | g.149981256G>T | CA361708341 | SLC26A2 | c.1663G>T (p.Gly555Cys) c.372+2905G>T (n.372+2905G>T) | |
| 5 | g.149981257G>A | CA361708348 | SLC26A2 | c.1664G>A (p.Gly555Asp) c.372+2906G>A (n.372+2906G>A) | gnomAD v4 |
| 5 | g.149981257G>C | CA361708349 | SLC26A2 | c.1664G>C (p.Gly555Ala) c.372+2906G>C (n.372+2906G>C) | |
| 5 | g.149981257G= | CA1590738708 | SLC26A2 | c.1664G= (p.Gly555=) c.372+2906G= (n.372+2906G=) | |
| 5 | g.149981257G>T | CA361708352 | SLC26A2 | c.1664G>T (p.Gly555Val) c.372+2906G>T (n.372+2906G>T) | dbSNP |
| 5 | g.149981258C>A | CA447402836 | SLC26A2 | c.1665C>A (p.Gly555=) c.372+2907C>A (n.372+2907C>A) | |
| 5 | g.149981258C>G | CA447402835 | SLC26A2 | c.1665C>G (p.Gly555=) c.372+2907C>G (n.372+2907C>G) | gnomAD v4 |
| 5 | g.149981258C>T | CA447402834 | SLC26A2 | c.1665C>T (p.Gly555=) c.372+2907C>T (n.372+2907C>T) | |
| 5 | g.149981259T>A | CA361708354 | SLC26A2 | c.1666T>A (p.Leu556Met) c.372+2908T>A (n.372+2908T>A) | ClinVar dbSNP |
| 5 | g.149981259T>C | CA447402838 | SLC26A2 | c.1666T>C (p.Leu556=) c.372+2908T>C (n.372+2908T>C) | |
| 5 | g.149981259T>G | CA361708356 | SLC26A2 | c.1666T>G (p.Leu556Val) c.372+2908T>G (n.372+2908T>G) | |
| 5 | g.149981259T= | CA1590738709 | SLC26A2 | c.1666T= (p.Leu556=) c.372+2908T= (n.372+2908T=) | |
| 5 | g.149981260T>A | CA361708358 | SLC26A2 | c.1667T>A (p.Leu556Ter) c.372+2909T>A (n.372+2909T>A) | |
| 5 | g.149981260T>C | CA361708359 | SLC26A2 | c.1667T>C (p.Leu556Ser) c.372+2909T>C (n.372+2909T>C) | dbSNP |
| 5 | g.149981260T>G | CA361708361 | SLC26A2 | c.1667T>G (p.Leu556Trp) c.372+2909T>G (n.372+2909T>G) | |
| 5 | g.149981261G>A | CA447402839 | SLC26A2 | c.1668G>A (p.Leu556=) c.372+2910G>A (n.372+2910G>A) | |
| 5 | g.149981261G>C | CA361708363 | SLC26A2 | c.1668G>C (p.Leu556Phe) c.372+2910G>C (n.372+2910G>C) | |
| 5 | g.149981261G>T | CA361708365 | SLC26A2 | c.1668G>T (p.Leu556Phe) c.372+2910G>T (n.372+2910G>T) | ClinVar dbSNP |
| 5 | g.149981262G>A | CA361708367 | SLC26A2 | c.1669G>A (p.Val557Met) c.372+2911G>A (n.372+2911G>A) | |
| 5 | g.149981262G>C | CA361708369 | SLC26A2 | c.1669G>C (p.Val557Leu) c.372+2911G>C (n.372+2911G>C) | |
| 5 | g.149981262G>T | CA361708371 | SLC26A2 | c.1669G>T (p.Val557Leu) c.372+2911G>T (n.372+2911G>T) | gnomAD v4 |
| 5 | g.149981263T>A | CA361708375 | SLC26A2 | c.1670T>A (p.Val557Glu) c.372+2912T>A (n.372+2912T>A) | |
| 5 | g.149981263T>C | CA3505474 | SLC26A2 | c.1670T>C (p.Val557Ala) c.372+2912T>C (n.372+2912T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981263T>G | CA361708373 | SLC26A2 | c.1670T>G (p.Val557Gly) c.372+2912T>G (n.372+2912T>G) | |
| 5 | g.149981263T= | CA1590738710 | SLC26A2 | c.1670T= (p.Val557=) c.372+2912T= (n.372+2912T=) | |
| 5 | g.149981264G>A | CA447402842 | SLC26A2 | c.1671G>A (p.Val557=) c.372+2913G>A (n.372+2913G>A) | gnomAD v4 |
| 5 | g.149981264G>C | CA447402843 | SLC26A2 | c.1671G>C (p.Val557=) c.372+2913G>C (n.372+2913G>C) | |
| 5 | g.149981264G>T | CA447402844 | SLC26A2 | c.1671G>T (p.Val557=) c.372+2913G>T (n.372+2913G>T) | |
| 5 | g.149981265del | CA2578449468 | SLC26A2 | c.1672del (p.Glu558LysfsTer27) c.372+2914del (n.372+2914del) | |
| 5 | g.149981265G>A | CA361708378 | SLC26A2 | c.1672G>A (p.Glu558Lys) c.372+2914G>A (n.372+2914G>A) | dbSNP |
| 5 | g.149981265G>C | CA361708380 | SLC26A2 | c.1672G>C (p.Glu558Gln) c.372+2914G>C (n.372+2914G>C) | |
| 5 | g.149981265G= | CA1590738711 | SLC26A2 | c.1672G= (p.Glu558=) c.372+2914G= (n.372+2914G=) | |
| 5 | g.149981265G>T | CA361708382 | SLC26A2 | c.1672G>T (p.Glu558Ter) c.372+2914G>T (n.372+2914G>T) | |
| 5 | g.149981266A>C | CA361708384 | SLC26A2 | c.1673A>C (p.Glu558Ala) c.372+2915A>C (n.372+2915A>C) | |
| 5 | g.149981266A>G | CA361708386 | SLC26A2 | c.1673A>G (p.Glu558Gly) c.372+2915A>G (n.372+2915A>G) | gnomAD v4 |
| 5 | g.149981266A>T | CA361708388 | SLC26A2 | c.1673A>T (p.Glu558Val) c.372+2915A>T (n.372+2915A>T) | |
| 5 | g.149981266_149981268delinsAAG | CA1590738712 | SLC26A2 | c.1673_1675delinsAAG (p.Glu558=) c.372+2915_372+2917delinsAAG (n.372+2915_372+2917delinsAAG) | |
| 5 | g.149981267A>C | CA361708389 | SLC26A2 | c.1674A>C (p.Glu558Asp) c.372+2916A>C (n.372+2916A>C) | |
| 5 | g.149981267A>G | CA447402846 | SLC26A2 | c.1674A>G (p.Glu558=) c.372+2916A>G (n.372+2916A>G) | |
| 5 | g.149981267A>T | CA361708391 | SLC26A2 | c.1674A>T (p.Glu558Asp) c.372+2916A>T (n.372+2916A>T) | |
| 5 | g.149981269_149981270del | CA1590738713 | SLC26A2 | c.1676_1677del (p.Glu559ValfsTer2) c.372+2918_372+2919del (n.372+2918_372+2919del) | dbSNP |
| 5 | g.149981268G>A | CA361708394 | SLC26A2 | c.1675G>A (p.Glu559Lys) c.372+2917G>A (n.372+2917G>A) | |
| 5 | g.149981268G>C | CA361708395 | SLC26A2 | c.1675G>C (p.Glu559Gln) c.372+2917G>C (n.372+2917G>C) | |
| 5 | g.149981268G>T | CA361708397 | SLC26A2 | c.1675G>T (p.Glu559Ter) c.372+2917G>T (n.372+2917G>T) | |
| 5 | g.149981269A>C | CA361708400 | SLC26A2 | c.1676A>C (p.Glu559Ala) c.372+2918A>C (n.372+2918A>C) | |
| 5 | g.149981269A>G | CA361708402 | SLC26A2 | c.1676A>G (p.Glu559Gly) c.372+2918A>G (n.372+2918A>G) | gnomAD v4 |
| 5 | g.149981269A>T | CA361708404 | SLC26A2 | c.1676A>T (p.Glu559Val) c.372+2918A>T (n.372+2918A>T) | |
| 5 | g.149981270G>A | CA447402848 | SLC26A2 | c.1677G>A (p.Glu559=) c.372+2919G>A (n.372+2919G>A) | |
| 5 | g.149981270G>C | CA361708409 | SLC26A2 | c.1677G>C (p.Glu559Asp) c.372+2919G>C (n.372+2919G>C) | |
| 5 | g.149981270G>T | CA361708406 | SLC26A2 | c.1677G>T (p.Glu559Asp) c.372+2919G>T (n.372+2919G>T) | |
| 5 | g.149981271T>A | CA361708411 | SLC26A2 | c.1678T>A (p.Ser560Thr) c.372+2920T>A (n.372+2920T>A) | |
| 5 | g.149981271T>C | CA361708413 | SLC26A2 | c.1678T>C (p.Ser560Pro) c.372+2920T>C (n.372+2920T>C) | |
| 5 | g.149981271T>G | CA361708415 | SLC26A2 | c.1678T>G (p.Ser560Ala) c.372+2920T>G (n.372+2920T>G) | |
| 5 | g.149981272C>A | CA361708416 | SLC26A2 | c.1679C>A (p.Ser560Tyr) c.372+2921C>A (n.372+2921C>A) | |
| 5 | g.149981272C= | CA1590738714 | SLC26A2 | c.1679C= (p.Ser560=) c.372+2921C= (n.372+2921C=) | |
| 5 | g.149981272C>G | CA3505475 | SLC26A2 | c.1679C>G (p.Ser560Cys) c.372+2921C>G (n.372+2921C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981272C>T | CA361708418 | SLC26A2 | c.1679C>T (p.Ser560Phe) c.372+2921C>T (n.372+2921C>T) | |
| 5 | g.149981273T>A | CA447402850 | SLC26A2 | c.1680T>A (p.Ser560=) c.372+2922T>A (n.372+2922T>A) | |
| 5 | g.149981273T>C | CA129084558 | SLC26A2 | c.1680T>C (p.Ser560=) c.372+2922T>C (n.372+2922T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981273T>G | CA447402851 | SLC26A2 | c.1680T>G (p.Ser560=) c.372+2922T>G (n.372+2922T>G) | |
| 5 | g.149981273T= | CA1590738715 | SLC26A2 | c.1680T= (p.Ser560=) c.372+2922T= (n.372+2922T=) | |
| 5 | g.149981274G>A | CA361708424 | SLC26A2 | c.1681G>A (p.Glu561Lys) c.372+2923G>A (n.372+2923G>A) | |
| 5 | g.149981274G>C | CA361708421 | SLC26A2 | c.1681G>C (p.Glu561Gln) c.372+2923G>C (n.372+2923G>C) | |
| 5 | g.149981274G>T | CA361708422 | SLC26A2 | c.1681G>T (p.Glu561Ter) c.372+2923G>T (n.372+2923G>T) | |
| 5 | g.149981275A>C | CA361708427 | SLC26A2 | c.1682A>C (p.Glu561Ala) c.372+2924A>C (n.372+2924A>C) | |
| 5 | g.149981275A>G | CA361708429 | SLC26A2 | c.1682A>G (p.Glu561Gly) c.372+2924A>G (n.372+2924A>G) | gnomAD v4 |
| 5 | g.149981275A>T | CA361708431 | SLC26A2 | c.1682A>T (p.Glu561Val) c.372+2924A>T (n.372+2924A>T) | |
| 5 | g.149981276G>A | CA447402855 | SLC26A2 | c.1683G>A (p.Glu561=) c.372+2925G>A (n.372+2925G>A) | gnomAD v4 |
| 5 | g.149981276G>C | CA361708434 | SLC26A2 | c.1683G>C (p.Glu561Asp) c.372+2925G>C (n.372+2925G>C) | |
| 5 | g.149981276G>T | CA361708436 | SLC26A2 | c.1683G>T (p.Glu561Asp) c.372+2925G>T (n.372+2925G>T) | |
| 5 | g.149981277G>A | CA361708438 | SLC26A2 | c.1684G>A (p.Val562Ile) c.372+2926G>A (n.372+2926G>A) | |
| 5 | g.149981277G>C | CA361708441 | SLC26A2 | c.1684G>C (p.Val562Leu) c.372+2926G>C (n.372+2926G>C) | |
| 5 | g.149981277G>T | CA361708439 | SLC26A2 | c.1684G>T (p.Val562Phe) c.372+2926G>T (n.372+2926G>T) | |
| 5 | g.149981278T>A | CA361708443 | SLC26A2 | c.1685T>A (p.Val562Asp) c.372+2927T>A (n.372+2927T>A) | |
| 5 | g.149981278T>C | CA361708444 | SLC26A2 | c.1685T>C (p.Val562Ala) c.372+2927T>C (n.372+2927T>C) | ClinVar |
| 5 | g.149981278T>G | CA361708446 | SLC26A2 | c.1685T>G (p.Val562Gly) c.372+2927T>G (n.372+2927T>G) | |
| 5 | g.149981279C>A | CA447402859 | SLC26A2 | c.1686C>A (p.Val562=) c.372+2928C>A (n.372+2928C>A) | |
| 5 | g.149981279C>G | CA447402860 | SLC26A2 | c.1686C>G (p.Val562=) c.372+2928C>G (n.372+2928C>G) | gnomAD v4 |
| 5 | g.149981279C>T | CA447402862 | SLC26A2 | c.1686C>T (p.Val562=) c.372+2928C>T (n.372+2928C>T) | |
| 5 | g.149981280T>A | CA361708449 | SLC26A2 | c.1687T>A (p.Phe563Ile) c.372+2929T>A (n.372+2929T>A) | |
| 5 | g.149981280T>C | CA361708451 | SLC26A2 | c.1687T>C (p.Phe563Leu) c.372+2929T>C (n.372+2929T>C) | |
| 5 | g.149981280T>G | CA361708453 | SLC26A2 | c.1687T>G (p.Phe563Val) c.372+2929T>G (n.372+2929T>G) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149981280T= | CA1590738716 | SLC26A2 | c.1687T= (p.Phe563=) c.372+2929T= (n.372+2929T=) | |
| 5 | g.149981281T>A | CA361708455 | SLC26A2 | c.1688T>A (p.Phe563Tyr) c.372+2930T>A (n.372+2930T>A) | |
| 5 | g.149981281T>C | CA361708456 | SLC26A2 | c.1688T>C (p.Phe563Ser) c.372+2930T>C (n.372+2930T>C) | |
| 5 | g.149981281T>G | CA361708459 | SLC26A2 | c.1688T>G (p.Phe563Cys) c.372+2930T>G (n.372+2930T>G) | |
| 5 | g.149981282T>A | CA361708461 | SLC26A2 | c.1689T>A (p.Phe563Leu) c.372+2931T>A (n.372+2931T>A) | dbSNP |
| 5 | g.149981282T>C | CA3505476 | SLC26A2 | c.1689T>C (p.Phe563=) c.372+2931T>C (n.372+2931T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981282T>G | CA361708464 | SLC26A2 | c.1689T>G (p.Phe563Leu) c.372+2931T>G (n.372+2931T>G) | |
| 5 | g.149981282T= | CA1590738717 | SLC26A2 | c.1689T= (p.Phe563=) c.372+2931T= (n.372+2931T=) | |
| 5 | g.149981283G>A | CA361708470 | SLC26A2 | c.1690G>A (p.Glu564Lys) c.372+2932G>A (n.372+2932G>A) | |
| 5 | g.149981283G>C | CA361708466 | SLC26A2 | c.1690G>C (p.Glu564Gln) c.372+2932G>C (n.372+2932G>C) | gnomAD v4 |
| 5 | g.149981283G>T | CA361708468 | SLC26A2 | c.1690G>T (p.Glu564Ter) c.372+2932G>T (n.372+2932G>T) | |
| 5 | g.149981284A>C | CA361708472 | SLC26A2 | c.1691A>C (p.Glu564Ala) c.372+2933A>C (n.372+2933A>C) | |
| 5 | g.149981284A>G | CA361708474 | SLC26A2 | c.1691A>G (p.Glu564Gly) c.372+2933A>G (n.372+2933A>G) | |
| 5 | g.149981284A>T | CA361708476 | SLC26A2 | c.1691A>T (p.Glu564Val) c.372+2933A>T (n.372+2933A>T) | |
| 5 | g.149981285A>C | CA361708479 | SLC26A2 | c.1692A>C (p.Glu564Asp) c.372+2934A>C (n.372+2934A>C) | |
| 5 | g.149981285A>G | CA447402868 | SLC26A2 | c.1692A>G (p.Glu564=) c.372+2934A>G (n.372+2934A>G) | |
| 5 | g.149981285A>T | CA361708481 | SLC26A2 | c.1692A>T (p.Glu564Asp) c.372+2934A>T (n.372+2934A>T) | |
| 5 | g.149981286T>A | CA361708483 | SLC26A2 | c.1693T>A (p.Ser565Thr) c.372+2935T>A (n.372+2935T>A) | |
| 5 | g.149981286T>C | CA361708484 | SLC26A2 | c.1693T>C (p.Ser565Pro) c.372+2935T>C (n.372+2935T>C) | |
| 5 | g.149981286T>G | CA361708487 | SLC26A2 | c.1693T>G (p.Ser565Ala) c.372+2935T>G (n.372+2935T>G) | |
| 5 | g.149981287C>A | CA3505477 | SLC26A2 | c.1694C>A (p.Ser565Tyr) c.372+2936C>A (n.372+2936C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981287C= | CA1590738718 | SLC26A2 | c.1694C= (p.Ser565=) c.372+2936C= (n.372+2936C=) | |
| 5 | g.149981287C>G | CA3505478 | SLC26A2 | c.1694C>G (p.Ser565Cys) c.372+2936C>G (n.372+2936C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981287C>T | CA361708489 | SLC26A2 | c.1694C>T (p.Ser565Phe) c.372+2936C>T (n.372+2936C>T) | COSMIC |
| 5 | g.149981288T>A | CA447402872 | SLC26A2 | c.1695T>A (p.Ser565=) c.372+2937T>A (n.372+2937T>A) | |
| 5 | g.149981288T>C | CA447402875 | SLC26A2 | c.1695T>C (p.Ser565=) c.372+2937T>C (n.372+2937T>C) | |
| 5 | g.149981288T>G | CA447402873 | SLC26A2 | c.1695T>G (p.Ser565=) c.372+2937T>G (n.372+2937T>G) |