UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.149981047_149981052dup | CA2768879541 | SLC26A2 | c.1454_1459dup (p.Ile486_Thr487insMetIle) c.372+2696_372+2701dup (n.372+2696_372+2701dup) | |
| 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) | |
| 5 | g.149981049A>G | CA3505441 | SLC26A2 | c.1456A>G (p.Ile486Val) c.372+2698A>G (n.372+2698A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981049A>T | CA361707906 | SLC26A2 | c.1456A>T (p.Ile486Phe) c.372+2698A>T (n.372+2698A>T) | |
| 5 | g.149981050T>A | CA361707907 | SLC26A2 | c.1457T>A (p.Ile486Asn) c.372+2699T>A (n.372+2699T>A) | |
| 5 | g.149981050T>C | CA361707908 | SLC26A2 | c.1457T>C (p.Ile486Thr) c.372+2699T>C (n.372+2699T>C) | gnomAD v4 |
| 5 | g.149981050T>G | CA361707909 | SLC26A2 | c.1457T>G (p.Ile486Ser) c.372+2699T>G (n.372+2699T>G) | |
| 5 | g.149981051C>A | CA447402660 | SLC26A2 | c.1458C>A (p.Ile486=) c.372+2700C>A (n.372+2700C>A) | ClinVar |
| 5 | g.149981051C= | CA1590738629 | SLC26A2 | c.1458C= (p.Ile486=) c.372+2700C= (n.372+2700C=) | |
| 5 | g.149981051C>G | CA361707910 | SLC26A2 | c.1458C>G (p.Ile486Met) c.372+2700C>G (n.372+2700C>G) | gnomAD v4 |
| 5 | g.149981051C>T | CA447402661 | SLC26A2 | c.1458C>T (p.Ile486=) c.372+2700C>T (n.372+2700C>T) | dbSNP gnomAD v4 |
| 5 | g.149981052A>C | CA361707911 | SLC26A2 | c.1459A>C (p.Thr487Pro) c.372+2701A>C (n.372+2701A>C) | |
| 5 | g.149981052A>G | CA361707912 | SLC26A2 | c.1459A>G (p.Thr487Ala) c.372+2701A>G (n.372+2701A>G) | |
| 5 | g.149981052A>T | CA361707913 | SLC26A2 | c.1459A>T (p.Thr487Ser) c.372+2701A>T (n.372+2701A>T) | |
| 5 | g.149981053C>A | CA361707914 | SLC26A2 | c.1460C>A (p.Thr487Lys) c.372+2702C>A (n.372+2702C>A) | |
| 5 | g.149981053C= | CA1590738630 | SLC26A2 | c.1460C= (p.Thr487=) c.372+2702C= (n.372+2702C=) | |
| 5 | g.149981053C>G | CA361707915 | SLC26A2 | c.1460C>G (p.Thr487Arg) c.372+2702C>G (n.372+2702C>G) | |
| 5 | g.149981053C>T | CA3505442 | SLC26A2 | c.1460C>T (p.Thr487Ile) c.372+2702C>T (n.372+2702C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981054A>C | CA447402664 | SLC26A2 | c.1461A>C (p.Thr487=) c.372+2703A>C (n.372+2703A>C) | |
| 5 | g.149981054A>G | CA447402665 | SLC26A2 | c.1461A>G (p.Thr487=) c.372+2703A>G (n.372+2703A>G) | gnomAD v4 |
| 5 | g.149981054A>T | CA447402663 | SLC26A2 | c.1461A>T (p.Thr487=) c.372+2703A>T (n.372+2703A>T) | |
| 5 | g.149981055A= | CA1590738631 | SLC26A2 | c.1462A= (p.Ile488=) c.372+2704A= (n.372+2704A=) | |
| 5 | g.149981055A>C | CA361707916 | SLC26A2 | c.1462A>C (p.Ile488Leu) c.372+2704A>C (n.372+2704A>C) | |
| 5 | g.149981055A>G | CA243094 | SLC26A2 | c.1462A>G (p.Ile488Val) c.372+2704A>G (n.372+2704A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981055A>T | CA361707917 | SLC26A2 | c.1462A>T (p.Ile488Phe) c.372+2704A>T (n.372+2704A>T) | |
| 5 | g.149981056T>A | CA361707918 | SLC26A2 | c.1463T>A (p.Ile488Asn) c.372+2705T>A (n.372+2705T>A) | |
| 5 | g.149981056T>C | CA361707919 | SLC26A2 | c.1463T>C (p.Ile488Thr) c.372+2705T>C (n.372+2705T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981056T>G | CA361707920 | SLC26A2 | c.1463T>G (p.Ile488Ser) c.372+2705T>G (n.372+2705T>G) | |
| 5 | g.149981057T>A | CA447402667 | SLC26A2 | c.1464T>A (p.Ile488=) c.372+2706T>A (n.372+2706T>A) | |
| 5 | g.149981057T>C | CA447402666 | SLC26A2 | c.1464T>C (p.Ile488=) c.372+2706T>C (n.372+2706T>C) | |
| 5 | g.149981057T>G | CA361707921 | SLC26A2 | c.1464T>G (p.Ile488Met) c.372+2706T>G (n.372+2706T>G) | |
| 5 | g.149981058G>A | CA361707924 | SLC26A2 | c.1465G>A (p.Val489Ile) c.372+2707G>A (n.372+2707G>A) | gnomAD v4 |
| 5 | g.149981058G>C | CA361707923 | SLC26A2 | c.1465G>C (p.Val489Leu) c.372+2707G>C (n.372+2707G>C) | |
| 5 | g.149981058G>T | CA361707922 | SLC26A2 | c.1465G>T (p.Val489Leu) c.372+2707G>T (n.372+2707G>T) | |
| 5 | g.149981059T>A | CA361707925 | SLC26A2 | c.1466T>A (p.Val489Glu) c.372+2708T>A (n.372+2708T>A) | |
| 5 | g.149981059T>C | CA361707926 | SLC26A2 | c.1466T>C (p.Val489Ala) c.372+2708T>C (n.372+2708T>C) | |
| 5 | g.149981059T>G | CA361707927 | SLC26A2 | c.1466T>G (p.Val489Gly) c.372+2708T>G (n.372+2708T>G) | |
| 5 | g.149981060A>C | CA447402669 | SLC26A2 | c.1467A>C (p.Val489=) c.372+2709A>C (n.372+2709A>C) | |
| 5 | g.149981060A>G | CA447402671 | SLC26A2 | c.1467A>G (p.Val489=) c.372+2709A>G (n.372+2709A>G) | |
| 5 | g.149981060A>T | CA447402670 | SLC26A2 | c.1467A>T (p.Val489=) c.372+2709A>T (n.372+2709A>T) | |
| 5 | g.149981061A>C | CA361707928 | SLC26A2 | c.1468A>C (p.Asn490His) c.372+2710A>C (n.372+2710A>C) | |
| 5 | g.149981061A>G | CA361707929 | SLC26A2 | c.1468A>G (p.Asn490Asp) c.372+2710A>G (n.372+2710A>G) | |
| 5 | g.149981061A>T | CA361707930 | SLC26A2 | c.1468A>T (p.Asn490Tyr) c.372+2710A>T (n.372+2710A>T) | |
| 5 | g.149981062A>C | CA361707931 | SLC26A2 | c.1469A>C (p.Asn490Thr) c.372+2711A>C (n.372+2711A>C) | |
| 5 | g.149981062A>G | CA361707932 | SLC26A2 | c.1469A>G (p.Asn490Ser) c.372+2711A>G (n.372+2711A>G) | |
| 5 | g.149981062A>T | CA361707933 | SLC26A2 | c.1469A>T (p.Asn490Ile) c.372+2711A>T (n.372+2711A>T) | |
| 5 | g.149981063T>A | CA361707934 | SLC26A2 | c.1470T>A (p.Asn490Lys) c.372+2712T>A (n.372+2712T>A) | |
| 5 | g.149981063T>C | CA447402672 | SLC26A2 | c.1470T>C (p.Asn490=) c.372+2712T>C (n.372+2712T>C) | gnomAD v4 |
| 5 | g.149981063T>G | CA361707935 | SLC26A2 | c.1470T>G (p.Asn490Lys) c.372+2712T>G (n.372+2712T>G) | |
| 5 | g.149981064C>A | CA361707936 | SLC26A2 | c.1471C>A (p.Leu491Ile) c.372+2713C>A (n.372+2713C>A) | |
| 5 | g.149981064C>G | CA361707937 | SLC26A2 | c.1471C>G (p.Leu491Val) c.372+2713C>G (n.372+2713C>G) | |
| 5 | g.149981064C>T | CA447402673 | SLC26A2 | c.1471C>T (p.Leu491=) c.372+2713C>T (n.372+2713C>T) | |
| 5 | g.149981065T>A | CA361707940 | SLC26A2 | c.1472T>A (p.Leu491Gln) c.372+2714T>A (n.372+2714T>A) | |
| 5 | g.149981065T>C | CA361707938 | SLC26A2 | c.1472T>C (p.Leu491Pro) c.372+2714T>C (n.372+2714T>C) | |
| 5 | g.149981065T>G | CA361707939 | SLC26A2 | c.1472T>G (p.Leu491Arg) c.372+2714T>G (n.372+2714T>G) | |
| 5 | g.149981066A>C | CA447402675 | SLC26A2 | c.1473A>C (p.Leu491=) c.372+2715A>C (n.372+2715A>C) | |
| 5 | g.149981066A>G | CA447402676 | SLC26A2 | c.1473A>G (p.Leu491=) c.372+2715A>G (n.372+2715A>G) | ClinVar |
| 5 | g.149981066A>T | CA447402677 | SLC26A2 | c.1473A>T (p.Leu491=) c.372+2715A>T (n.372+2715A>T) | |
| 5 | g.149981067C>A | CA447402678 | SLC26A2 | c.1474C>A (p.Arg492=) c.372+2716C>A (n.372+2716C>A) | |
| 5 | g.149981067C= | CA1590738632 | SLC26A2 | c.1474C= (p.Arg492=) c.372+2716C= (n.372+2716C=) | |
| 5 | g.149981067C>G | CA361707941 | SLC26A2 | c.1474C>G (p.Arg492Gly) c.372+2716C>G (n.372+2716C>G) | |
| 5 | g.149981067C>T | CA202198 | SLC26A2 | c.1474C>T (p.Arg492Trp) c.372+2716C>T (n.372+2716C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981068G>A | CA3505443 | SLC26A2 | c.1475G>A (p.Arg492Gln) c.372+2717G>A (n.372+2717G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981068G>C | CA361707942 | SLC26A2 | c.1475G>C (p.Arg492Pro) c.372+2717G>C (n.372+2717G>C) | |
| 5 | g.149981068G= | CA1590738633 | SLC26A2 | c.1475G= (p.Arg492=) c.372+2717G= (n.372+2717G=) | |
| 5 | g.149981068G>T | CA361707943 | SLC26A2 | c.1475G>T (p.Arg492Leu) c.372+2717G>T (n.372+2717G>T) | dbSNP |
| 5 | g.149981071del | CA2695205645 | SLC26A2 | c.1478del (p.Gly493GlufsTer?) c.372+2720del (n.372+2720del) | |
| 5 | g.149981069G>A | CA447402680 | SLC26A2 | c.1476G>A (p.Arg492=) c.372+2718G>A (n.372+2718G>A) | |
| 5 | g.149981069G>C | CA3505444 | SLC26A2 | c.1476G>C (p.Arg492=) c.372+2718G>C (n.372+2718G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981069G= | CA1590738634 | SLC26A2 | c.1476G= (p.Arg492=) c.372+2718G= (n.372+2718G=) | |
| 5 | g.149981069G>T | CA447402682 | SLC26A2 | c.1476G>T (p.Arg492=) c.372+2718G>T (n.372+2718G>T) | |
| 5 | g.149981070G>A | CA361707944 | SLC26A2 | c.1477G>A (p.Gly493Arg) c.372+2719G>A (n.372+2719G>A) | |
| 5 | g.149981070G>C | CA361707945 | SLC26A2 | c.1477G>C (p.Gly493Arg) c.372+2719G>C (n.372+2719G>C) | |
| 5 | g.149981070G>T | CA361707946 | SLC26A2 | c.1477G>T (p.Gly493Ter) c.372+2719G>T (n.372+2719G>T) | |
| 5 | g.149981071G>A | CA361707947 | SLC26A2 | c.1478G>A (p.Gly493Glu) c.372+2720G>A (n.372+2720G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981071G>C | CA361707948 | SLC26A2 | c.1478G>C (p.Gly493Ala) c.372+2720G>C (n.372+2720G>C) | |
| 5 | g.149981071G= | CA1590738635 | SLC26A2 | c.1478G= (p.Gly493=) c.372+2720G= (n.372+2720G=) | |
| 5 | g.149981071G>T | CA361707949 | SLC26A2 | c.1478G>T (p.Gly493Val) c.372+2720G>T (n.372+2720G>T) | gnomAD v4 |
| 5 | g.149981072A>C | CA447402684 | SLC26A2 | c.1479A>C (p.Gly493=) c.372+2721A>C (n.372+2721A>C) | |
| 5 | g.149981072A>G | CA447402685 | SLC26A2 | c.1479A>G (p.Gly493=) c.372+2721A>G (n.372+2721A>G) | |
| 5 | g.149981072A>T | CA447402686 | SLC26A2 | c.1479A>T (p.Gly493=) c.372+2721A>T (n.372+2721A>T) | |
| 5 | g.149981073G>A | CA361707950 | SLC26A2 | c.1480G>A (p.Ala494Thr) c.372+2722G>A (n.372+2722G>A) | |
| 5 | g.149981073G>C | CA361707952 | SLC26A2 | c.1480G>C (p.Ala494Pro) c.372+2722G>C (n.372+2722G>C) | |
| 5 | g.149981073G>T | CA361707951 | SLC26A2 | c.1480G>T (p.Ala494Ser) c.372+2722G>T (n.372+2722G>T) | |
| 5 | g.149981074C>A | CA361707953 | SLC26A2 | c.1481C>A (p.Ala494Asp) c.372+2723C>A (n.372+2723C>A) | |
| 5 | g.149981074C= | CA1590738636 | SLC26A2 | c.1481C= (p.Ala494=) c.372+2723C= (n.372+2723C=) | |
| 5 | g.149981074C>G | CA361707954 | SLC26A2 | c.1481C>G (p.Ala494Gly) c.372+2723C>G (n.372+2723C>G) | |
| 5 | g.149981074C>T | CA3505445 | SLC26A2 | c.1481C>T (p.Ala494Val) c.372+2723C>T (n.372+2723C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981076dup | CA2740094147 | SLC26A2 | c.1483dup (p.Leu495ProfsTer3) c.372+2725dup (n.372+2725dup) | ClinVar |
| 5 | g.149981075C>A | CA447402689 | SLC26A2 | c.1482C>A (p.Ala494=) c.372+2724C>A (n.372+2724C>A) | |
| 5 | g.149981075C>G | CA447402688 | SLC26A2 | c.1482C>G (p.Ala494=) c.372+2724C>G (n.372+2724C>G) | |
| 5 | g.149981075C>T | CA447402687 | SLC26A2 | c.1482C>T (p.Ala494=) c.372+2724C>T (n.372+2724C>T) | |
| 5 | g.149981076C>A | CA361707955 | SLC26A2 | c.1483C>A (p.Leu495Ile) c.372+2725C>A (n.372+2725C>A) | |
| 5 | g.149981076C= | CA1590738637 | SLC26A2 | c.1483C= (p.Leu495=) c.372+2725C= (n.372+2725C=) | |
| 5 | g.149981076C>G | CA361707956 | SLC26A2 | c.1483C>G (p.Leu495Val) c.372+2725C>G (n.372+2725C>G) | |
| 5 | g.149981076C>T | CA3505446 | SLC26A2 | c.1483C>T (p.Leu495Phe) c.372+2725C>T (n.372+2725C>T) | dbSNP ExAC gnomAD v4 |
| 5 | g.149981077T>A | CA361707957 | SLC26A2 | c.1484T>A (p.Leu495His) c.372+2726T>A (n.372+2726T>A) | |
| 5 | g.149981077T>C | CA361707958 | SLC26A2 | c.1484T>C (p.Leu495Pro) c.372+2726T>C (n.372+2726T>C) | |
| 5 | g.149981077T>G | CA361707959 | SLC26A2 | c.1484T>G (p.Leu495Arg) c.372+2726T>G (n.372+2726T>G) | |
| 5 | g.149981078T>A | CA447402691 | SLC26A2 | c.1485T>A (p.Leu495=) c.372+2727T>A (n.372+2727T>A) | |
| 5 | g.149981078T>C | CA447402692 | SLC26A2 | c.1485T>C (p.Leu495=) c.372+2727T>C (n.372+2727T>C) | |
| 5 | g.149981078T>G | CA447402693 | SLC26A2 | c.1485T>G (p.Leu495=) c.372+2727T>G (n.372+2727T>G) | |
| 5 | g.149981079C>A | CA361707960 | SLC26A2 | c.1486C>A (p.Arg496Ser) c.372+2728C>A (n.372+2728C>A) | |
| 5 | g.149981079C= | CA1590738638 | SLC26A2 | c.1486C= (p.Arg496=) c.372+2728C= (n.372+2728C=) | |
| 5 | g.149981079C>G | CA361707961 | SLC26A2 | c.1486C>G (p.Arg496Gly) c.372+2728C>G (n.372+2728C>G) | |
| 5 | g.149981079C>T | CA3505447 | SLC26A2 | c.1486C>T (p.Arg496Cys) c.372+2728C>T (n.372+2728C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981080_149981081insGGCG | CA2580073922 | SLC26A2 | c.1487_1488insGGCG (p.Lys497AlafsTer2) c.372+2729_372+2730insGGCG (n.372+2729_372+2730insGGCG) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981080G>A | CA3505448 | SLC26A2 | c.1487G>A (p.Arg496His) c.372+2729G>A (n.372+2729G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981080G>C | CA361707962 | SLC26A2 | c.1487G>C (p.Arg496Pro) c.372+2729G>C (n.372+2729G>C) | |
| 5 | g.149981080G= | CA1590738639 | SLC26A2 | c.1487G= (p.Arg496=) c.372+2729G= (n.372+2729G=) | |
| 5 | g.149981080G>T | CA361707963 | SLC26A2 | c.1487G>T (p.Arg496Leu) c.372+2729G>T (n.372+2729G>T) | |
| 5 | g.149981081T>A | CA447402698 | SLC26A2 | c.1488T>A (p.Arg496=) c.372+2730T>A (n.372+2730T>A) | |
| 5 | g.149981081T>C | CA447402696 | SLC26A2 | c.1488T>C (p.Arg496=) c.372+2730T>C (n.372+2730T>C) | |
| 5 | g.149981081T>G | CA447402697 | SLC26A2 | c.1488T>G (p.Arg496=) c.372+2730T>G (n.372+2730T>G) | |
| 5 | g.149981082A>C | CA361707964 | SLC26A2 | c.1489A>C (p.Lys497Gln) c.372+2731A>C (n.372+2731A>C) | |
| 5 | g.149981082A>G | CA361707965 | SLC26A2 | c.1489A>G (p.Lys497Glu) c.372+2731A>G (n.372+2731A>G) | |
| 5 | g.149981082A>T | CA361707966 | SLC26A2 | c.1489A>T (p.Lys497Ter) c.372+2731A>T (n.372+2731A>T) | |
| 5 | g.149981083A>C | CA361707969 | SLC26A2 | c.1490A>C (p.Lys497Thr) c.372+2732A>C (n.372+2732A>C) | |
| 5 | g.149981083A>G | CA361707968 | SLC26A2 | c.1490A>G (p.Lys497Arg) c.372+2732A>G (n.372+2732A>G) | |
| 5 | g.149981083A>T | CA361707967 | SLC26A2 | c.1490A>T (p.Lys497Ile) c.372+2732A>T (n.372+2732A>T) | |
| 5 | g.149981084A>C | CA361707970 | SLC26A2 | c.1491A>C (p.Lys497Asn) c.372+2733A>C (n.372+2733A>C) | |
| 5 | g.149981084A>G | CA447402702 | SLC26A2 | c.1491A>G (p.Lys497=) c.372+2733A>G (n.372+2733A>G) | |
| 5 | g.149981084A>T | CA361707971 | SLC26A2 | c.1491A>T (p.Lys497Asn) c.372+2733A>T (n.372+2733A>T) | |
| 5 | g.149981085T>A | CA361707972 | SLC26A2 | c.1492T>A (p.Phe498Ile) c.372+2734T>A (n.372+2734T>A) | gnomAD v4 COSMIC |
| 5 | g.149981085T>C | CA361707973 | SLC26A2 | c.1492T>C (p.Phe498Leu) c.372+2734T>C (n.372+2734T>C) | |
| 5 | g.149981085T>G | CA361707974 | SLC26A2 | c.1492T>G (p.Phe498Val) c.372+2734T>G (n.372+2734T>G) | |
| 5 | g.149981086T>A | CA361707975 | SLC26A2 | c.1493T>A (p.Phe498Tyr) c.372+2735T>A (n.372+2735T>A) | |
| 5 | g.149981086T>C | CA361707976 | SLC26A2 | c.1493T>C (p.Phe498Ser) c.372+2735T>C (n.372+2735T>C) | gnomAD v4 |
| 5 | g.149981086T>G | CA361707977 | SLC26A2 | c.1493T>G (p.Phe498Cys) c.372+2735T>G (n.372+2735T>G) | |
| 5 | g.149981087T>A | CA361707978 | SLC26A2 | c.1494T>A (p.Phe498Leu) c.372+2736T>A (n.372+2736T>A) | |
| 5 | g.149981087T>C | CA447402703 | SLC26A2 | c.1494T>C (p.Phe498=) c.372+2736T>C (n.372+2736T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981087T>G | CA361707979 | SLC26A2 | c.1494T>G (p.Phe498Leu) c.372+2736T>G (n.372+2736T>G) | |
| 5 | g.149981087T= | CA1590738640 | SLC26A2 | c.1494T= (p.Phe498=) c.372+2736T= (n.372+2736T=) | |
| 5 | g.149981088A>C | CA447402705 | SLC26A2 | c.1495A>C (p.Arg499=) c.372+2737A>C (n.372+2737A>C) | |
| 5 | g.149981088A>G | CA361707980 | SLC26A2 | c.1495A>G (p.Arg499Gly) c.372+2737A>G (n.372+2737A>G) | |
| 5 | g.149981088A>T | CA361707981 | SLC26A2 | c.1495A>T (p.Arg499Trp) c.372+2737A>T (n.372+2737A>T) | |
| 5 | g.149981089G>A | CA361707982 | SLC26A2 | c.1496G>A (p.Arg499Lys) c.372+2738G>A (n.372+2738G>A) | |
| 5 | g.149981089G>C | CA361707984 | SLC26A2 | c.1496G>C (p.Arg499Thr) c.372+2738G>C (n.372+2738G>C) | |
| 5 | g.149981089G>T | CA361707983 | SLC26A2 | c.1496G>T (p.Arg499Met) c.372+2738G>T (n.372+2738G>T) | |
| 5 | g.149981090G>A | CA447402708 | SLC26A2 | c.1497G>A (p.Arg499=) c.372+2739G>A (n.372+2739G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981090G>C | CA361707985 | SLC26A2 | c.1497G>C (p.Arg499Ser) c.372+2739G>C (n.372+2739G>C) | |
| 5 | g.149981090G= | CA1590738641 | SLC26A2 | c.1497G= (p.Arg499=) c.372+2739G= (n.372+2739G=) | |
| 5 | g.149981090G>T | CA361707986 | SLC26A2 | c.1497G>T (p.Arg499Ser) c.372+2739G>T (n.372+2739G>T) | |
| 5 | g.149981091G>A | CA361707987 | SLC26A2 | c.1498G>A (p.Asp500Asn) c.372+2740G>A (n.372+2740G>A) | |
| 5 | g.149981091G>C | CA361707988 | SLC26A2 | c.1498G>C (p.Asp500His) c.372+2740G>C (n.372+2740G>C) | |
| 5 | g.149981091G>T | CA361707989 | SLC26A2 | c.1498G>T (p.Asp500Tyr) c.372+2740G>T (n.372+2740G>T) | |
| 5 | g.149981092A= | CA1590738642 | SLC26A2 | c.1499A= (p.Asp500=) c.372+2741A= (n.372+2741A=) | |
| 5 | g.149981092A>C | CA361707990 | SLC26A2 | c.1499A>C (p.Asp500Ala) c.372+2741A>C (n.372+2741A>C) | |
| 5 | g.149981092A>G | CA361707991 | SLC26A2 | c.1499A>G (p.Asp500Gly) c.372+2741A>G (n.372+2741A>G) | |
| 5 | g.149981092A>T | CA3505449 | SLC26A2 | c.1499A>T (p.Asp500Val) c.372+2741A>T (n.372+2741A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981093T>A | CA361707992 | SLC26A2 | c.1500T>A (p.Asp500Glu) c.372+2742T>A (n.372+2742T>A) | |
| 5 | g.149981093T>C | CA447402712 | SLC26A2 | c.1500T>C (p.Asp500=) c.372+2742T>C (n.372+2742T>C) | |
| 5 | g.149981093T>G | CA361707993 | SLC26A2 | c.1500T>G (p.Asp500Glu) c.372+2742T>G (n.372+2742T>G) | |
| 5 | g.149981094C>A | CA361707995 | SLC26A2 | c.1501C>A (p.Leu501Ile) c.372+2743C>A (n.372+2743C>A) | |
| 5 | g.149981094C= | CA1590738643 | SLC26A2 | c.1501C= (p.Leu501=) c.372+2743C= (n.372+2743C=) | |
| 5 | g.149981094C>G | CA3505450 | SLC26A2 | c.1501C>G (p.Leu501Val) c.372+2743C>G (n.372+2743C>G) | dbSNP ExAC gnomAD v2 |
| 5 | g.149981094C>T | CA361707994 | SLC26A2 | c.1501C>T (p.Leu501Phe) c.372+2743C>T (n.372+2743C>T) | |
| 5 | g.149981095T>A | CA361707996 | SLC26A2 | c.1502T>A (p.Leu501His) c.372+2744T>A (n.372+2744T>A) | |
| 5 | g.149981095T>C | CA361707997 | SLC26A2 | c.1502T>C (p.Leu501Pro) c.372+2744T>C (n.372+2744T>C) | gnomAD v4 |
| 5 | g.149981095T>G | CA361707998 | SLC26A2 | c.1502T>G (p.Leu501Arg) c.372+2744T>G (n.372+2744T>G) | |
| 5 | g.149981096T>A | CA447402714 | SLC26A2 | c.1503T>A (p.Leu501=) c.372+2745T>A (n.372+2745T>A) | |
| 5 | g.149981096T>C | CA447402715 | SLC26A2 | c.1503T>C (p.Leu501=) c.372+2745T>C (n.372+2745T>C) | |
| 5 | g.149981096T>G | CA447402717 | SLC26A2 | c.1503T>G (p.Leu501=) c.372+2745T>G (n.372+2745T>G) | |
| 5 | g.149981097C>A | CA361707999 | SLC26A2 | c.1504C>A (p.Pro502Thr) c.372+2746C>A (n.372+2746C>A) | |
| 5 | g.149981097C>G | CA361708000 | SLC26A2 | c.1504C>G (p.Pro502Ala) c.372+2746C>G (n.372+2746C>G) | gnomAD v4 |
| 5 | g.149981097C>T | CA361708001 | SLC26A2 | c.1504C>T (p.Pro502Ser) c.372+2746C>T (n.372+2746C>T) | |
| 5 | g.149981098C>A | CA361708002 | SLC26A2 | c.1505C>A (p.Pro502His) c.372+2747C>A (n.372+2747C>A) | |
| 5 | g.149981098C>G | CA361708003 | SLC26A2 | c.1505C>G (p.Pro502Arg) c.372+2747C>G (n.372+2747C>G) | |
| 5 | g.149981098C>T | CA361708004 | SLC26A2 | c.1505C>T (p.Pro502Leu) c.372+2747C>T (n.372+2747C>T) | |
| 5 | g.149981099C>A | CA447402720 | SLC26A2 | c.1506C>A (p.Pro502=) c.372+2748C>A (n.372+2748C>A) | ClinVar |
| 5 | g.149981099C>G | CA447402722 | SLC26A2 | c.1506C>G (p.Pro502=) c.372+2748C>G (n.372+2748C>G) | ClinVar |
| 5 | g.149981099C>T | CA447402723 | SLC26A2 | c.1506C>T (p.Pro502=) c.372+2748C>T (n.372+2748C>T) | |
| 5 | g.149981100A>C | CA361708005 | SLC26A2 | c.1507A>C (p.Lys503Gln) c.372+2749A>C (n.372+2749A>C) | gnomAD v4 |
| 5 | g.149981100A>G | CA361708006 | SLC26A2 | c.1507A>G (p.Lys503Glu) c.372+2749A>G (n.372+2749A>G) | gnomAD v4 |
| 5 | g.149981100A>T | CA361708007 | SLC26A2 | c.1507A>T (p.Lys503Ter) c.372+2749A>T (n.372+2749A>T) | |
| 5 | g.149981101A= | CA1590738644 | SLC26A2 | c.1508A= (p.Lys503=) c.372+2750A= (n.372+2750A=) | |
| 5 | g.149981101A>C | CA361708009 | SLC26A2 | c.1508A>C (p.Lys503Thr) c.372+2750A>C (n.372+2750A>C) | dbSNP |
| 5 | g.149981101A>G | CA361708010 | SLC26A2 | c.1508A>G (p.Lys503Arg) c.372+2750A>G (n.372+2750A>G) | |
| 5 | g.149981101A>T | CA361708008 | SLC26A2 | c.1508A>T (p.Lys503Ile) c.372+2750A>T (n.372+2750A>T) | |
| 5 | g.149981102A>C | CA361708012 | SLC26A2 | c.1509A>C (p.Lys503Asn) c.372+2751A>C (n.372+2751A>C) | |
| 5 | g.149981102A>G | CA447402727 | SLC26A2 | c.1509A>G (p.Lys503=) c.372+2751A>G (n.372+2751A>G) | |
| 5 | g.149981102A>T | CA361708011 | SLC26A2 | c.1509A>T (p.Lys503Asn) c.372+2751A>T (n.372+2751A>T) | |
| 5 | g.149981102_149981107del | CA2740094148 | SLC26A2 | c.1509_1514del (p.Met504_Trp505del) c.372+2751_372+2756del (n.372+2751_372+2756del) | ClinVar |
| 5 | g.149981103A= | CA1590738645 | SLC26A2 | c.1510A= (p.Met504=) c.372+2752A= (n.372+2752A=) | |
| 5 | g.149981103A>C | CA361708013 | SLC26A2 | c.1510A>C (p.Met504Leu) c.372+2752A>C (n.372+2752A>C) | |
| 5 | g.149981103A>G | CA3505451 | SLC26A2 | c.1510A>G (p.Met504Val) c.372+2752A>G (n.372+2752A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981103A>T | CA361708014 | SLC26A2 | c.1510A>T (p.Met504Leu) c.372+2752A>T (n.372+2752A>T) | |
| 5 | g.149981104T>A | CA361708015 | SLC26A2 | c.1511T>A (p.Met504Lys) c.372+2753T>A (n.372+2753T>A) | |
| 5 | g.149981104T>C | CA361708016 | SLC26A2 | c.1511T>C (p.Met504Thr) c.372+2753T>C (n.372+2753T>C) | gnomAD v4 |
| 5 | g.149981104T>G | CA361708017 | SLC26A2 | c.1511T>G (p.Met504Arg) c.372+2753T>G (n.372+2753T>G) | |
| 5 | g.149981105G>A | CA3505452 | SLC26A2 | c.1512G>A (p.Met504Ile) c.372+2754G>A (n.372+2754G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981105G>C | CA361708018 | SLC26A2 | c.1512G>C (p.Met504Ile) c.372+2754G>C (n.372+2754G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981105G= | CA1590738646 | SLC26A2 | c.1512G= (p.Met504=) c.372+2754G= (n.372+2754G=) | |
| 5 | g.149981105G>T | CA129084421 | SLC26A2 | c.1512G>T (p.Met504Ile) c.372+2754G>T (n.372+2754G>T) | dbSNP |
| 5 | g.149981106T>A | CA361708019 | SLC26A2 | c.1513T>A (p.Trp505Arg) c.372+2755T>A (n.372+2755T>A) | |
| 5 | g.149981106T>C | CA361708020 | SLC26A2 | c.1513T>C (p.Trp505Arg) c.372+2755T>C (n.372+2755T>C) | ClinVar dbSNP |
| 5 | g.149981106T>G | CA361708021 | SLC26A2 | c.1513T>G (p.Trp505Gly) c.372+2755T>G (n.372+2755T>G) | |
| 5 | g.149981107_149981108insAATG | CA129084422 | SLC26A2 | c.1514_1515insAATG (p.Trp505Ter) c.372+2756_372+2757insAATG (n.372+2756_372+2757insAATG) | dbSNP |
| 5 | g.149981107G>A | CA361708024 | SLC26A2 | c.1514G>A (p.Trp505Ter) c.372+2756G>A (n.372+2756G>A) | ClinVar |
| 5 | g.149981107G>C | CA361708022 | SLC26A2 | c.1514G>C (p.Trp505Ser) c.372+2756G>C (n.372+2756G>C) | |
| 5 | g.149981107G>T | CA361708023 | SLC26A2 | c.1514G>T (p.Trp505Leu) c.372+2756G>T (n.372+2756G>T) | |
| 5 | g.149981108G>A | CA361708025 | SLC26A2 | c.1515G>A (p.Trp505Ter) c.372+2757G>A (n.372+2757G>A) | gnomAD v4 |
| 5 | g.149981108G>C | CA361708026 | SLC26A2 | c.1515G>C (p.Trp505Cys) c.372+2757G>C (n.372+2757G>C) | |
| 5 | g.149981108G>T | CA361708027 | SLC26A2 | c.1515G>T (p.Trp505Cys) c.372+2757G>T (n.372+2757G>T) | |
| 5 | g.149981109A>C | CA361708028 | SLC26A2 | c.1516A>C (p.Ser506Arg) c.372+2758A>C (n.372+2758A>C) | |
| 5 | g.149981109A>G | CA361708029 | SLC26A2 | c.1516A>G (p.Ser506Gly) c.372+2758A>G (n.372+2758A>G) | |
| 5 | g.149981109A>T | CA361708030 | SLC26A2 | c.1516A>T (p.Ser506Cys) c.372+2758A>T (n.372+2758A>T) | gnomAD v4 |
| 5 | g.149981110G>A | CA3505453 | SLC26A2 | c.1517G>A (p.Ser506Asn) c.372+2759G>A (n.372+2759G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981110G>C | CA361708031 | SLC26A2 | c.1517G>C (p.Ser506Thr) c.372+2759G>C (n.372+2759G>C) | |
| 5 | g.149981110G= | CA1590738647 | SLC26A2 | c.1517G= (p.Ser506=) c.372+2759G= (n.372+2759G=) | |
| 5 | g.149981110G>T | CA361708032 | SLC26A2 | c.1517G>T (p.Ser506Ile) c.372+2759G>T (n.372+2759G>T) | |
| 5 | g.149981111T>A | CA361708033 | SLC26A2 | c.1518T>A (p.Ser506Arg) c.372+2760T>A (n.372+2760T>A) | |
| 5 | g.149981111T>C | CA447402610 | SLC26A2 | c.1518T>C (p.Ser506=) c.372+2760T>C (n.372+2760T>C) | |
| 5 | g.149981111T>G | CA361708034 | SLC26A2 | c.1518T>G (p.Ser506Arg) c.372+2760T>G (n.372+2760T>G) | |
| 5 | g.149981112A>C | CA361708037 | SLC26A2 | c.1519A>C (p.Ile507Leu) c.372+2761A>C (n.372+2761A>C) | |
| 5 | g.149981112A>G | CA361708036 | SLC26A2 | c.1519A>G (p.Ile507Val) c.372+2761A>G (n.372+2761A>G) | |
| 5 | g.149981112A>T | CA361708035 | SLC26A2 | c.1519A>T (p.Ile507Phe) c.372+2761A>T (n.372+2761A>T) | |
| 5 | g.149981113T>A | CA361708038 | SLC26A2 | c.1520T>A (p.Ile507Asn) c.372+2762T>A (n.372+2762T>A) | |
| 5 | g.149981113T>C | CA361708039 | SLC26A2 | c.1520T>C (p.Ile507Thr) c.372+2762T>C (n.372+2762T>C) | |
| 5 | g.149981113T>G | CA361708040 | SLC26A2 | c.1520T>G (p.Ile507Ser) c.372+2762T>G (n.372+2762T>G) | |
| 5 | g.149981114T>A | CA447402613 | SLC26A2 | c.1521T>A (p.Ile507=) c.372+2763T>A (n.372+2763T>A) | |
| 5 | g.149981114T>C | CA447402615 | SLC26A2 | c.1521T>C (p.Ile507=) c.372+2763T>C (n.372+2763T>C) | |
| 5 | g.149981114T>G | CA361708041 | SLC26A2 | c.1521T>G (p.Ile507Met) c.372+2763T>G (n.372+2763T>G) | |
| 5 | g.149981117_149981119del | CA2578449467 | SLC26A2 | c.1524_1526del (p.Ser508del) c.372+2766_372+2768del (n.372+2766_372+2768del) | gnomAD v4 |
| 5 | g.149981115A>C | CA361708042 | SLC26A2 | c.1522A>C (p.Ser508Arg) c.372+2764A>C (n.372+2764A>C) | |
| 5 | g.149981115A>G | CA361708043 | SLC26A2 | c.1522A>G (p.Ser508Gly) c.372+2764A>G (n.372+2764A>G) | |
| 5 | g.149981115A>T | CA361708044 | SLC26A2 | c.1522A>T (p.Ser508Cys) c.372+2764A>T (n.372+2764A>T) | |
| 5 | g.149981116G>A | CA361708045 | SLC26A2 | c.1523G>A (p.Ser508Asn) c.372+2765G>A (n.372+2765G>A) | |
| 5 | g.149981116G>C | CA361708047 | SLC26A2 | c.1523G>C (p.Ser508Thr) c.372+2765G>C (n.372+2765G>C) | |
| 5 | g.149981116G>T | CA361708046 | SLC26A2 | c.1523G>T (p.Ser508Ile) c.372+2765G>T (n.372+2765G>T) | |
| 5 | g.149981117T>A | CA361708048 | SLC26A2 | c.1524T>A (p.Ser508Arg) c.372+2766T>A (n.372+2766T>A) | |
| 5 | g.149981117T>C | CA447402623 | SLC26A2 | c.1524T>C (p.Ser508=) c.372+2766T>C (n.372+2766T>C) | |
| 5 | g.149981117T>G | CA361708049 | SLC26A2 | c.1524T>G (p.Ser508Arg) c.372+2766T>G (n.372+2766T>G) | |
| 5 | g.149981118A>C | CA447402625 | SLC26A2 | c.1525A>C (p.Arg509=) c.372+2767A>C (n.372+2767A>C) | |
| 5 | g.149981118A>G | CA361708050 | SLC26A2 | c.1525A>G (p.Arg509Gly) c.372+2767A>G (n.372+2767A>G) | |
| 5 | g.149981118A>T | CA361708051 | SLC26A2 | c.1525A>T (p.Arg509Ter) c.372+2767A>T (n.372+2767A>T) | |
| 5 | g.149981119G>A | CA361708052 | SLC26A2 | c.1526G>A (p.Arg509Lys) c.372+2768G>A (n.372+2768G>A) | |
| 5 | g.149981119G>C | CA361708054 | SLC26A2 | c.1526G>C (p.Arg509Thr) c.372+2768G>C (n.372+2768G>C) | |
| 5 | g.149981119G>T | CA361708053 | SLC26A2 | c.1526G>T (p.Arg509Ile) c.372+2768G>T (n.372+2768G>T) | |
| 5 | g.149981120A>C | CA361708055 | SLC26A2 | c.1527A>C (p.Arg509Ser) c.372+2769A>C (n.372+2769A>C) | |
| 5 | g.149981120A>G | CA447402627 | SLC26A2 | c.1527A>G (p.Arg509=) c.372+2769A>G (n.372+2769A>G) | |
| 5 | g.149981120A>T | CA361708056 | SLC26A2 | c.1527A>T (p.Arg509Ser) c.372+2769A>T (n.372+2769A>T) | |
| 5 | g.149981121A>C | CA361708057 | SLC26A2 | c.1528A>C (p.Met510Leu) c.372+2770A>C (n.372+2770A>C) | |
| 5 | g.149981121A>G | CA361708058 | SLC26A2 | c.1528A>G (p.Met510Val) c.372+2770A>G (n.372+2770A>G) | |
| 5 | g.149981121A>T | CA361708059 | SLC26A2 | c.1528A>T (p.Met510Leu) c.372+2770A>T (n.372+2770A>T) | |
| 5 | g.149981122T>A | CA361708060 | SLC26A2 | c.1529T>A (p.Met510Lys) c.372+2771T>A (n.372+2771T>A) | |
| 5 | g.149981122T>C | CA361708061 | SLC26A2 | c.1529T>C (p.Met510Thr) c.372+2771T>C (n.372+2771T>C) | gnomAD v4 |
| 5 | g.149981122T>G | CA361708062 | SLC26A2 | c.1529T>G (p.Met510Arg) c.372+2771T>G (n.372+2771T>G) | |
| 5 | g.149981123G>A | CA361708063 | SLC26A2 | c.1530G>A (p.Met510Ile) c.372+2772G>A (n.372+2772G>A) | gnomAD v4 |
| 5 | g.149981123G>C | CA361708064 | SLC26A2 | c.1530G>C (p.Met510Ile) c.372+2772G>C (n.372+2772G>C) | |
| 5 | g.149981123G>T | CA361708065 | SLC26A2 | c.1530G>T (p.Met510Ile) c.372+2772G>T (n.372+2772G>T) | |
| 5 | g.149981124G>A | CA361708067 | SLC26A2 | c.1531G>A (p.Asp511Asn) c.372+2773G>A (n.372+2773G>A) | |
| 5 | g.149981124G>C | CA361708068 | SLC26A2 | c.1531G>C (p.Asp511His) c.372+2773G>C (n.372+2773G>C) | |
| 5 | g.149981124G>T | CA361708066 | SLC26A2 | c.1531G>T (p.Asp511Tyr) c.372+2773G>T (n.372+2773G>T) | |
| 5 | g.149981125A>C | CA361708071 | SLC26A2 | c.1532A>C (p.Asp511Ala) c.372+2774A>C (n.372+2774A>C) | |
| 5 | g.149981125A>G | CA361708069 | SLC26A2 | c.1532A>G (p.Asp511Gly) c.372+2774A>G (n.372+2774A>G) | |
| 5 | g.149981125A>T | CA361708070 | SLC26A2 | c.1532A>T (p.Asp511Val) c.372+2774A>T (n.372+2774A>T) | |
| 5 | g.149981126T>A | CA3505454 | SLC26A2 | c.1533T>A (p.Asp511Glu) c.372+2775T>A (n.372+2775T>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149981126T>C | CA447402633 | SLC26A2 | c.1533T>C (p.Asp511=) c.372+2775T>C (n.372+2775T>C) | |
| 5 | g.149981126T>G | CA361708072 | SLC26A2 | c.1533T>G (p.Asp511Glu) c.372+2775T>G (n.372+2775T>G) | |
| 5 | g.149981126T= | CA1590738648 | SLC26A2 | c.1533T= (p.Asp511=) c.372+2775T= (n.372+2775T=) | |
| 5 | g.149981126_149981128delinsTAC | CA1590738649 | SLC26A2 | c.1533_1535delinsTAC (p.Asp511=) c.372+2775_372+2777delinsTAC (n.372+2775_372+2777delinsTAC) | |
| 5 | g.149981127A>C | CA361708073 | SLC26A2 | c.1534A>C (p.Thr512Pro) c.372+2776A>C (n.372+2776A>C) | |
| 5 | g.149981127A>G | CA361708074 | SLC26A2 | c.1534A>G (p.Thr512Ala) c.372+2776A>G (n.372+2776A>G) | |
| 5 | g.149981127A>T | CA361708075 | SLC26A2 | c.1534A>T (p.Thr512Ser) c.372+2776A>T (n.372+2776A>T) | |
| 5 | g.149981128_149981129del | CA563955691 | SLC26A2 | c.1535_1536del (p.Thr512SerfsTer16) c.372+2777_372+2778del (n.372+2777_372+2778del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981128C>A | CA116649 | SLC26A2 | c.1535C>A (p.Thr512Lys) c.372+2777C>A (n.372+2777C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981128C= | CA1590738650 | SLC26A2 | c.1535C= (p.Thr512=) c.372+2777C= (n.372+2777C=) | |
| 5 | g.149981128C>G | CA361708076 | SLC26A2 | c.1535C>G (p.Thr512Arg) c.372+2777C>G (n.372+2777C>G) | |
| 5 | g.149981128C>T | CA361708077 | SLC26A2 | c.1535C>T (p.Thr512Ile) c.372+2777C>T (n.372+2777C>T) | gnomAD v4 |
| 5 | g.149981129A= | CA1590738651 | SLC26A2 | c.1536A= (p.Thr512=) c.372+2778A= (n.372+2778A=) | |
| 5 | g.149981129A>C | CA447402642 | SLC26A2 | c.1536A>C (p.Thr512=) c.372+2778A>C (n.372+2778A>C) | dbSNP |
| 5 | g.149981129A>G | CA447402640 | SLC26A2 | c.1536A>G (p.Thr512=) c.372+2778A>G (n.372+2778A>G) | gnomAD v4 |
| 5 | g.149981129A>T | CA447402641 | SLC26A2 | c.1536A>T (p.Thr512=) c.372+2778A>T (n.372+2778A>T) | |
| 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=) |