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.149981545_149981549delinsTTGAC | CA1590738821 | SLC26A2 | c.1952_1956delinsTTGAC (p.Ile651=) c.372+3194_372+3198delinsTTGAC (n.372+3194_372+3198delinsTTGAC) | |
| 5 | g.149981548_149981551del | CA16041000 | SLC26A2 | c.1955_1958del (p.Asp652AlafsTer7) c.372+3197_372+3200del (n.372+3197_372+3200del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981548A= | CA1590738823 | SLC26A2 | c.1955A= (p.Asp652=) c.372+3197A= (n.372+3197A=) | |
| 5 | g.149981548A>C | CA361709501 | SLC26A2 | c.1955A>C (p.Asp652Ala) c.372+3197A>C (n.372+3197A>C) | |
| 5 | g.149981548A>G | CA361709502 | SLC26A2 | c.1955A>G (p.Asp652Gly) c.372+3197A>G (n.372+3197A>G) | dbSNP |
| 5 | g.149981548A>T | CA361709503 | SLC26A2 | c.1955A>T (p.Asp652Val) c.372+3197A>T (n.372+3197A>T) | |
| 5 | g.149981548dup | CA913108433 | SLC26A2 | c.1955dup (p.Asp652GlufsTer24) c.372+3197dup (n.372+3197dup) | |
| 5 | g.149981549C>A | CA361709505 | SLC26A2 | c.1956C>A (p.Asp652Glu) c.372+3198C>A (n.372+3198C>A) | |
| 5 | g.149981549C>G | CA361709504 | SLC26A2 | c.1956C>G (p.Asp652Glu) c.372+3198C>G (n.372+3198C>G) | |
| 5 | g.149981549C>T | CA447402958 | SLC26A2 | c.1956C>T (p.Asp652=) c.372+3198C>T (n.372+3198C>T) | |
| 5 | g.149981549_149981550dup | CA658823316 | SLC26A2 | c.1956_1957dup (p.Cys653SerfsTer8) c.372+3198_372+3199dup (n.372+3198_372+3199dup) | ClinVar dbSNP |
| 5 | g.149981550T>A | CA252996 | SLC26A2 | c.1957T>A (p.Cys653Ser) c.372+3199T>A (n.372+3199T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981550T>C | CA361709506 | SLC26A2 | c.1957T>C (p.Cys653Arg) c.372+3199T>C (n.372+3199T>C) | gnomAD v4 |
| 5 | g.149981550T>G | CA361709507 | SLC26A2 | c.1957T>G (p.Cys653Gly) c.372+3199T>G (n.372+3199T>G) | ClinVar gnomAD v4 |
| 5 | g.149981550T= | CA1590738824 | SLC26A2 | c.1957T= (p.Cys653=) c.372+3199T= (n.372+3199T=) | |
| 5 | g.149981551G>A | CA361709508 | SLC26A2 | c.1958G>A (p.Cys653Tyr) c.372+3200G>A (n.372+3200G>A) | ClinVar dbSNP |
| 5 | g.149981551G>C | CA361709509 | SLC26A2 | c.1958G>C (p.Cys653Ser) c.372+3200G>C (n.372+3200G>C) | |
| 5 | g.149981551G= | CA1590738825 | SLC26A2 | c.1958G= (p.Cys653=) c.372+3200G= (n.372+3200G=) | |
| 5 | g.149981551G>T | CA361709510 | SLC26A2 | c.1958G>T (p.Cys653Phe) c.372+3200G>T (n.372+3200G>T) | gnomAD v4 |
| 5 | g.149981552C>A | CA361709512 | SLC26A2 | c.1959C>A (p.Cys653Ter) c.372+3201C>A (n.372+3201C>A) | |
| 5 | g.149981552C= | CA1590738826 | SLC26A2 | c.1959C= (p.Cys653=) c.372+3201C= (n.372+3201C=) | |
| 5 | g.149981552C>G | CA361709511 | SLC26A2 | c.1959C>G (p.Cys653Trp) c.372+3201C>G (n.372+3201C>G) | |
| 5 | g.149981552C>T | CA447402959 | SLC26A2 | c.1959C>T (p.Cys653=) c.372+3201C>T (n.372+3201C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981553A= | CA1590738827 | SLC26A2 | c.1960A= (p.Ser654=) c.372+3202A= (n.372+3202A=) | |
| 5 | g.149981553A>C | CA361709513 | SLC26A2 | c.1960A>C (p.Ser654Arg) c.372+3202A>C (n.372+3202A>C) | |
| 5 | g.149981553A>G | CA361709514 | SLC26A2 | c.1960A>G (p.Ser654Gly) c.372+3202A>G (n.372+3202A>G) | dbSNP |
| 5 | g.149981553A>T | CA361709515 | SLC26A2 | c.1960A>T (p.Ser654Cys) c.372+3202A>T (n.372+3202A>T) | |
| 5 | g.149981554G>A | CA361709516 | SLC26A2 | c.1961G>A (p.Ser654Asn) c.372+3203G>A (n.372+3203G>A) | |
| 5 | g.149981554G>C | CA361709517 | SLC26A2 | c.1961G>C (p.Ser654Thr) c.372+3203G>C (n.372+3203G>C) | |
| 5 | g.149981554G>T | CA361709518 | SLC26A2 | c.1961G>T (p.Ser654Ile) c.372+3203G>T (n.372+3203G>T) | |
| 5 | g.149981555T>A | CA361709520 | SLC26A2 | c.1962T>A (p.Ser654Arg) c.372+3204T>A (n.372+3204T>A) | |
| 5 | g.149981555T>C | CA3505522 | SLC26A2 | c.1962T>C (p.Ser654=) c.372+3204T>C (n.372+3204T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981555T>G | CA361709519 | SLC26A2 | c.1962T>G (p.Ser654Arg) c.372+3204T>G (n.372+3204T>G) | |
| 5 | g.149981555T= | CA1590738828 | SLC26A2 | c.1962T= (p.Ser654=) c.372+3204T= (n.372+3204T=) | |
| 5 | g.149981556G>A | CA361709521 | SLC26A2 | c.1963G>A (p.Ala655Thr) c.372+3205G>A (n.372+3205G>A) | gnomAD v4 |
| 5 | g.149981556G>C | CA361709522 | SLC26A2 | c.1963G>C (p.Ala655Pro) c.372+3205G>C (n.372+3205G>C) | |
| 5 | g.149981556G>T | CA361709523 | SLC26A2 | c.1963G>T (p.Ala655Ser) c.372+3205G>T (n.372+3205G>T) | |
| 5 | g.149981557C>A | CA361709524 | SLC26A2 | c.1964C>A (p.Ala655Glu) c.372+3206C>A (n.372+3206C>A) | |
| 5 | g.149981557C>G | CA361709525 | SLC26A2 | c.1964C>G (p.Ala655Gly) c.372+3206C>G (n.372+3206C>G) | |
| 5 | g.149981557C>T | CA361709526 | SLC26A2 | c.1964C>T (p.Ala655Val) c.372+3206C>T (n.372+3206C>T) | gnomAD v4 |
| 5 | g.149981558A>C | CA447402960 | SLC26A2 | c.1965A>C (p.Ala655=) c.372+3207A>C (n.372+3207A>C) | |
| 5 | g.149981558A>G | CA447402961 | SLC26A2 | c.1965A>G (p.Ala655=) c.372+3207A>G (n.372+3207A>G) | |
| 5 | g.149981558A>T | CA447402962 | SLC26A2 | c.1965A>T (p.Ala655=) c.372+3207A>T (n.372+3207A>T) | |
| 5 | g.149981559A= | CA1590738829 | SLC26A2 | c.1966A= (p.Ile656=) c.372+3208A= (n.372+3208A=) | |
| 5 | g.149981559A>C | CA361709527 | SLC26A2 | c.1966A>C (p.Ile656Leu) c.372+3208A>C (n.372+3208A>C) | dbSNP gnomAD v4 |
| 5 | g.149981559A>G | CA3505523 | SLC26A2 | c.1966A>G (p.Ile656Val) c.372+3208A>G (n.372+3208A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981559A>T | CA361709528 | SLC26A2 | c.1966A>T (p.Ile656Phe) c.372+3208A>T (n.372+3208A>T) | |
| 5 | g.149981560T>A | CA361709529 | SLC26A2 | c.1967T>A (p.Ile656Asn) c.372+3209T>A (n.372+3209T>A) | |
| 5 | g.149981560T>C | CA361709530 | SLC26A2 | c.1967T>C (p.Ile656Thr) c.372+3209T>C (n.372+3209T>C) | |
| 5 | g.149981560T>G | CA361709531 | SLC26A2 | c.1967T>G (p.Ile656Ser) c.372+3209T>G (n.372+3209T>G) | |
| 5 | g.149981561del | CA2740094150 | SLC26A2 | c.1968del (p.Gln657AsnfsTer3) c.372+3210del (n.372+3210del) | ClinVar |
| 5 | g.149981561T>A | CA447402963 | SLC26A2 | c.1968T>A (p.Ile656=) c.372+3210T>A (n.372+3210T>A) | |
| 5 | g.149981561T>C | CA447402964 | SLC26A2 | c.1968T>C (p.Ile656=) c.372+3210T>C (n.372+3210T>C) | |
| 5 | g.149981561T>G | CA361709532 | SLC26A2 | c.1968T>G (p.Ile656Met) c.372+3210T>G (n.372+3210T>G) | |
| 5 | g.149981562C>A | CA361709535 | SLC26A2 | c.1969C>A (p.Gln657Lys) c.372+3211C>A (n.372+3211C>A) | |
| 5 | g.149981562C>G | CA361709533 | SLC26A2 | c.1969C>G (p.Gln657Glu) c.372+3211C>G (n.372+3211C>G) | |
| 5 | g.149981562C>T | CA361709534 | SLC26A2 | c.1969C>T (p.Gln657Ter) c.372+3211C>T (n.372+3211C>T) | |
| 5 | g.149981563A>C | CA361709536 | SLC26A2 | c.1970A>C (p.Gln657Pro) c.372+3212A>C (n.372+3212A>C) | COSMIC |
| 5 | g.149981563A>G | CA361709537 | SLC26A2 | c.1970A>G (p.Gln657Arg) c.372+3212A>G (n.372+3212A>G) | |
| 5 | g.149981563A>T | CA361709538 | SLC26A2 | c.1970A>T (p.Gln657Leu) c.372+3212A>T (n.372+3212A>T) | |
| 5 | g.149981564A= | CA1590738831 | SLC26A2 | c.1971A= (p.Gln657=) c.372+3213A= (n.372+3213A=) | |
| 5 | g.149981564A>C | CA361709539 | SLC26A2 | c.1971A>C (p.Gln657His) c.372+3213A>C (n.372+3213A>C) | |
| 5 | g.149981564A>G | CA129084756 | SLC26A2 | c.1971A>G (p.Gln657=) c.372+3213A>G (n.372+3213A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981564A>T | CA361709540 | SLC26A2 | c.1971A>T (p.Gln657His) c.372+3213A>T (n.372+3213A>T) | |
| 5 | g.149981564_149981565delinsAT | CA1590738830 | SLC26A2 | c.1971_1972delinsAT (p.Gln657=) c.372+3213_372+3214delinsAT (n.372+3213_372+3214delinsAT) | |
| 5 | g.149981565T>A | CA361709543 | SLC26A2 | c.1972T>A (p.Phe658Ile) c.372+3214T>A (n.372+3214T>A) | |
| 5 | g.149981565T>C | CA361709542 | SLC26A2 | c.1972T>C (p.Phe658Leu) c.372+3214T>C (n.372+3214T>C) | |
| 5 | g.149981565T>G | CA361709541 | SLC26A2 | c.1972T>G (p.Phe658Val) c.372+3214T>G (n.372+3214T>G) | |
| 5 | g.149981569del | CA263256 | SLC26A2 | c.1976del (p.Leu659Ter) c.372+3218del (n.372+3218del) | ClinVar dbSNP |
| 5 | g.149981566T>A | CA361709544 | SLC26A2 | c.1973T>A (p.Phe658Tyr) c.372+3215T>A (n.372+3215T>A) | |
| 5 | g.149981566T>C | CA361709545 | SLC26A2 | c.1973T>C (p.Phe658Ser) c.372+3215T>C (n.372+3215T>C) | |
| 5 | g.149981566T>G | CA361709546 | SLC26A2 | c.1973T>G (p.Phe658Cys) c.372+3215T>G (n.372+3215T>G) | |
| 5 | g.149981567T>A | CA361709547 | SLC26A2 | c.1974T>A (p.Phe658Leu) c.372+3216T>A (n.372+3216T>A) | |
| 5 | g.149981567T>C | CA447402965 | SLC26A2 | c.1974T>C (p.Phe658=) c.372+3216T>C (n.372+3216T>C) | |
| 5 | g.149981567T>G | CA361709548 | SLC26A2 | c.1974T>G (p.Phe658Leu) c.372+3216T>G (n.372+3216T>G) | |
| 5 | g.149981568T>A | CA361709549 | SLC26A2 | c.1975T>A (p.Leu659Ile) c.372+3217T>A (n.372+3217T>A) | |
| 5 | g.149981568T>C | CA447402966 | SLC26A2 | c.1975T>C (p.Leu659=) c.372+3217T>C (n.372+3217T>C) | |
| 5 | g.149981568T>G | CA361709550 | SLC26A2 | c.1975T>G (p.Leu659Val) c.372+3217T>G (n.372+3217T>G) | |
| 5 | g.149981569T>A | CA361709551 | SLC26A2 | c.1976T>A (p.Leu659Ter) c.372+3218T>A (n.372+3218T>A) | |
| 5 | g.149981569T>C | CA361709553 | SLC26A2 | c.1976T>C (p.Leu659Ser) c.372+3218T>C (n.372+3218T>C) | |
| 5 | g.149981569T>G | CA361709552 | SLC26A2 | c.1976T>G (p.Leu659Ter) c.372+3218T>G (n.372+3218T>G) | |
| 5 | g.149981570A>C | CA361709554 | SLC26A2 | c.1977A>C (p.Leu659Phe) c.372+3219A>C (n.372+3219A>C) | |
| 5 | g.149981570A>G | CA447402967 | SLC26A2 | c.1977A>G (p.Leu659=) c.372+3219A>G (n.372+3219A>G) | |
| 5 | g.149981570A>T | CA361709555 | SLC26A2 | c.1977A>T (p.Leu659Phe) c.372+3219A>T (n.372+3219A>T) | |
| 5 | g.149981570_149981571insAT | CA2531784885 | SLC26A2 | c.1977_1978insAT (p.Asp660MetfsTer9) c.372+3219_372+3220insAT (n.372+3219_372+3220insAT) | |
| 5 | g.149981571G>A | CA361709556 | SLC26A2 | c.1978G>A (p.Asp660Asn) c.372+3220G>A (n.372+3220G>A) | |
| 5 | g.149981571G>C | CA361709557 | SLC26A2 | c.1978G>C (p.Asp660His) c.372+3220G>C (n.372+3220G>C) | |
| 5 | g.149981571G>T | CA361709558 | SLC26A2 | c.1978G>T (p.Asp660Tyr) c.372+3220G>T (n.372+3220G>T) | |
| 5 | g.149981572A= | CA1590738832 | SLC26A2 | c.1979A= (p.Asp660=) c.372+3221A= (n.372+3221A=) | |
| 5 | g.149981572A>C | CA361709559 | SLC26A2 | c.1979A>C (p.Asp660Ala) c.372+3221A>C (n.372+3221A>C) | |
| 5 | g.149981572A>G | CA3505524 | SLC26A2 | c.1979A>G (p.Asp660Gly) c.372+3221A>G (n.372+3221A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981572A>T | CA361709560 | SLC26A2 | c.1979A>T (p.Asp660Val) c.372+3221A>T (n.372+3221A>T) | |
| 5 | g.149981573T>A | CA361709561 | SLC26A2 | c.1980T>A (p.Asp660Glu) c.372+3222T>A (n.372+3222T>A) | |
| 5 | g.149981573T>C | CA447402968 | SLC26A2 | c.1980T>C (p.Asp660=) c.372+3222T>C (n.372+3222T>C) | ClinVar dbSNP |
| 5 | g.149981573T>G | CA361709562 | SLC26A2 | c.1980T>G (p.Asp660Glu) c.372+3222T>G (n.372+3222T>G) | |
| 5 | g.149981574A>C | CA361709563 | SLC26A2 | c.1981A>C (p.Thr661Pro) c.372+3223A>C (n.372+3223A>C) | |
| 5 | g.149981574A>G | CA361709565 | SLC26A2 | c.1981A>G (p.Thr661Ala) c.372+3223A>G (n.372+3223A>G) | gnomAD v4 |
| 5 | g.149981574A>T | CA361709564 | SLC26A2 | c.1981A>T (p.Thr661Ser) c.372+3223A>T (n.372+3223A>T) | |
| 5 | g.149981574_149981575delinsAC | CA1590738833 | SLC26A2 | c.1981_1982delinsAC (p.Thr661=) c.372+3223_372+3224delinsAC (n.372+3223_372+3224delinsAC) | |
| 5 | g.149981575del | CA3505525 | SLC26A2 | c.1982del (p.Thr661LysfsTer7) c.372+3224del (n.372+3224del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981575C>A | CA361709566 | SLC26A2 | c.1982C>A (p.Thr661Lys) c.372+3224C>A (n.372+3224C>A) | |
| 5 | g.149981575C>G | CA361709567 | SLC26A2 | c.1982C>G (p.Thr661Arg) c.372+3224C>G (n.372+3224C>G) | |
| 5 | g.149981575C>T | CA361709568 | SLC26A2 | c.1982C>T (p.Thr661Ile) c.372+3224C>T (n.372+3224C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981575_149981576delinsCA | CA1590738834 | SLC26A2 | c.1982_1983delinsCA (p.Thr661=) c.372+3224_372+3225delinsCA (n.372+3224_372+3225delinsCA) | |
| 5 | g.149981576del | CA263257 | SLC26A2 | c.1983del (p.Ala662GlnfsTer6) c.372+3225del (n.372+3225del) | ClinVar dbSNP |
| 5 | g.149981576A>C | CA447402969 | SLC26A2 | c.1983A>C (p.Thr661=) c.372+3225A>C (n.372+3225A>C) | |
| 5 | g.149981576A>G | CA447402970 | SLC26A2 | c.1983A>G (p.Thr661=) c.372+3225A>G (n.372+3225A>G) | |
| 5 | g.149981576A>T | CA447402971 | SLC26A2 | c.1983A>T (p.Thr661=) c.372+3225A>T (n.372+3225A>T) | |
| 5 | g.149981577G>A | CA361709571 | SLC26A2 | c.1984G>A (p.Ala662Thr) c.372+3226G>A (n.372+3226G>A) | |
| 5 | g.149981577G>C | CA361709570 | SLC26A2 | c.1984G>C (p.Ala662Pro) c.372+3226G>C (n.372+3226G>C) | |
| 5 | g.149981577G>T | CA361709569 | SLC26A2 | c.1984G>T (p.Ala662Ser) c.372+3226G>T (n.372+3226G>T) | |
| 5 | g.149981578C>A | CA361709572 | SLC26A2 | c.1985C>A (p.Ala662Glu) c.372+3227C>A (n.372+3227C>A) | |
| 5 | g.149981578C= | CA1590738835 | SLC26A2 | c.1985C= (p.Ala662=) c.372+3227C= (n.372+3227C=) | |
| 5 | g.149981578C>G | CA129084776 | SLC26A2 | c.1985C>G (p.Ala662Gly) c.372+3227C>G (n.372+3227C>G) | dbSNP |
| 5 | g.149981578C>T | CA361709573 | SLC26A2 | c.1985C>T (p.Ala662Val) c.372+3227C>T (n.372+3227C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981579A>C | CA447402972 | SLC26A2 | c.1986A>C (p.Ala662=) c.372+3228A>C (n.372+3228A>C) | gnomAD v4 |
| 5 | g.149981579A>G | CA447402973 | SLC26A2 | c.1986A>G (p.Ala662=) c.372+3228A>G (n.372+3228A>G) | dbSNP |
| 5 | g.149981579A>T | CA447402974 | SLC26A2 | c.1986A>T (p.Ala662=) c.372+3228A>T (n.372+3228A>T) | |
| 5 | g.149981580G>A | CA361709574 | SLC26A2 | c.1987G>A (p.Gly663Arg) c.372+3229G>A (n.372+3229G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981580G>C | CA361709575 | SLC26A2 | c.1987G>C (p.Gly663Arg) c.372+3229G>C (n.372+3229G>C) | |
| 5 | g.149981580G= | CA1590738836 | SLC26A2 | c.1987G= (p.Gly663=) c.372+3229G= (n.372+3229G=) | |
| 5 | g.149981580G>T | CA361709576 | SLC26A2 | c.1987G>T (p.Gly663Trp) c.372+3229G>T (n.372+3229G>T) | |
| 5 | g.149981581G>A | CA361709579 | SLC26A2 | c.1988G>A (p.Gly663Glu) c.372+3230G>A (n.372+3230G>A) | |
| 5 | g.149981581G>C | CA361709577 | SLC26A2 | c.1988G>C (p.Gly663Ala) c.372+3230G>C (n.372+3230G>C) | |
| 5 | g.149981581G>T | CA361709578 | SLC26A2 | c.1988G>T (p.Gly663Val) c.372+3230G>T (n.372+3230G>T) | |
| 5 | g.149981582G>A | CA447402977 | SLC26A2 | c.1989G>A (p.Gly663=) c.372+3231G>A (n.372+3231G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981582G>C | CA447402976 | SLC26A2 | c.1989G>C (p.Gly663=) c.372+3231G>C (n.372+3231G>C) | |
| 5 | g.149981582G= | CA1590738837 | SLC26A2 | c.1989G= (p.Gly663=) c.372+3231G= (n.372+3231G=) | |
| 5 | g.149981582G>T | CA447402975 | SLC26A2 | c.1989G>T (p.Gly663=) c.372+3231G>T (n.372+3231G>T) | |
| 5 | g.149981583A>C | CA361709580 | SLC26A2 | c.1990A>C (p.Ile664Leu) c.372+3232A>C (n.372+3232A>C) | |
| 5 | g.149981583A>G | CA361709581 | SLC26A2 | c.1990A>G (p.Ile664Val) c.372+3232A>G (n.372+3232A>G) | |
| 5 | g.149981583A>T | CA361709582 | SLC26A2 | c.1990A>T (p.Ile664Phe) c.372+3232A>T (n.372+3232A>T) | |
| 5 | g.149981584T>A | CA361709583 | SLC26A2 | c.1991T>A (p.Ile664Asn) c.372+3233T>A (n.372+3233T>A) | |
| 5 | g.149981584T>C | CA361709584 | SLC26A2 | c.1991T>C (p.Ile664Thr) c.372+3233T>C (n.372+3233T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981584T>G | CA361709585 | SLC26A2 | c.1991T>G (p.Ile664Ser) c.372+3233T>G (n.372+3233T>G) | |
| 5 | g.149981584T= | CA1590738838 | SLC26A2 | c.1991T= (p.Ile664=) c.372+3233T= (n.372+3233T=) | |
| 5 | g.149981585C>A | CA447402978 | SLC26A2 | c.1992C>A (p.Ile664=) c.372+3234C>A (n.372+3234C>A) | |
| 5 | g.149981585C= | CA1590738839 | SLC26A2 | c.1992C= (p.Ile664=) c.372+3234C= (n.372+3234C=) | |
| 5 | g.149981585C>G | CA3505526 | SLC26A2 | c.1992C>G (p.Ile664Met) c.372+3234C>G (n.372+3234C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981585C>T | CA447402979 | SLC26A2 | c.1992C>T (p.Ile664=) c.372+3234C>T (n.372+3234C>T) | ClinVar |
| 5 | g.149981585_149981587delinsCCA | CA1590738840 | SLC26A2 | c.1992_1994delinsCCA (p.Ile664=) c.372+3234_372+3236delinsCCA (n.372+3234_372+3236delinsCCA) | |
| 5 | g.149981586C>A | CA361709586 | SLC26A2 | c.1993C>A (p.His665Asn) c.372+3235C>A (n.372+3235C>A) | |
| 5 | g.149981586C>G | CA361709587 | SLC26A2 | c.1993C>G (p.His665Asp) c.372+3235C>G (n.372+3235C>G) | |
| 5 | g.149981586C>T | CA361709588 | SLC26A2 | c.1993C>T (p.His665Tyr) c.372+3235C>T (n.372+3235C>T) | |
| 5 | g.149981591_149981592del | CA16041001 | SLC26A2 | c.1998_1999del (p.Leu667GlufsTer8) c.372+3240_372+3241del (n.372+3240_372+3241del) | ClinVar dbSNP |
| 5 | g.149981587A= | CA1590738841 | SLC26A2 | c.1994A= (p.His665=) c.372+3236A= (n.372+3236A=) | |
| 5 | g.149981587A>C | CA3505527 | SLC26A2 | c.1994A>C (p.His665Pro) c.372+3236A>C (n.372+3236A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981587A>G | CA361709589 | SLC26A2 | c.1994A>G (p.His665Arg) c.372+3236A>G (n.372+3236A>G) | |
| 5 | g.149981587A>T | CA361709590 | SLC26A2 | c.1994A>T (p.His665Leu) c.372+3236A>T (n.372+3236A>T) | |
| 5 | g.149981587dup | CA2499217725 | SLC26A2 | c.1994dup (p.His665GlnfsTer11) c.372+3236dup (n.372+3236dup) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981588C>A | CA361709591 | SLC26A2 | c.1995C>A (p.His665Gln) c.372+3237C>A (n.372+3237C>A) | |
| 5 | g.149981588C>G | CA361709592 | SLC26A2 | c.1995C>G (p.His665Gln) c.372+3237C>G (n.372+3237C>G) | |
| 5 | g.149981588C>T | CA447402980 | SLC26A2 | c.1995C>T (p.His665=) c.372+3237C>T (n.372+3237C>T) | ClinVar gnomAD v4 |
| 5 | g.149981589A= | CA1590738842 | SLC26A2 | c.1996A= (p.Thr666=) c.372+3238A= (n.372+3238A=) | |
| 5 | g.149981589A>C | CA361709594 | SLC26A2 | c.1996A>C (p.Thr666Pro) c.372+3238A>C (n.372+3238A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981589A>G | CA216025 | SLC26A2 | c.1996A>G (p.Thr666Ala) c.372+3238A>G (n.372+3238A>G) | ClinVar dbSNP |
| 5 | g.149981589A>T | CA361709593 | SLC26A2 | c.1996A>T (p.Thr666Ser) c.372+3238A>T (n.372+3238A>T) | |
| 5 | g.149981590C>A | CA361709595 | SLC26A2 | c.1997C>A (p.Thr666Lys) c.372+3239C>A (n.372+3239C>A) | |
| 5 | g.149981590C= | CA1590738843 | SLC26A2 | c.1997C= (p.Thr666=) c.372+3239C= (n.372+3239C=) | |
| 5 | g.149981590C>G | CA361709596 | SLC26A2 | c.1997C>G (p.Thr666Arg) c.372+3239C>G (n.372+3239C>G) | |
| 5 | g.149981590C>T | CA361709597 | SLC26A2 | c.1997C>T (p.Thr666Ile) c.372+3239C>T (n.372+3239C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981591A= | CA1590738844 | SLC26A2 | c.1998A= (p.Thr666=) c.372+3240A= (n.372+3240A=) | |
| 5 | g.149981591A>C | CA3505528 | SLC26A2 | c.1998A>C (p.Thr666=) c.372+3240A>C (n.372+3240A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981591A>G | CA447402981 | SLC26A2 | c.1998A>G (p.Thr666=) c.372+3240A>G (n.372+3240A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981591A>T | CA447402982 | SLC26A2 | c.1998A>T (p.Thr666=) c.372+3240A>T (n.372+3240A>T) | |
| 5 | g.149981592C>A | CA361709598 | SLC26A2 | c.1999C>A (p.Leu667Met) c.372+3241C>A (n.372+3241C>A) | |
| 5 | g.149981592C= | CA1590738845 | SLC26A2 | c.1999C= (p.Leu667=) c.372+3241C= (n.372+3241C=) | |
| 5 | g.149981592C>G | CA361709599 | SLC26A2 | c.1999C>G (p.Leu667Val) c.372+3241C>G (n.372+3241C>G) | |
| 5 | g.149981592C>T | CA447402983 | SLC26A2 | c.1999C>T (p.Leu667=) c.372+3241C>T (n.372+3241C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981593T>A | CA361709600 | SLC26A2 | c.2000T>A (p.Leu667Gln) c.372+3242T>A (n.372+3242T>A) | |
| 5 | g.149981593T>C | CA361709601 | SLC26A2 | c.2000T>C (p.Leu667Pro) c.372+3242T>C (n.372+3242T>C) | gnomAD v4 COSMIC |
| 5 | g.149981593T>G | CA361709602 | SLC26A2 | c.2000T>G (p.Leu667Arg) c.372+3242T>G (n.372+3242T>G) | |
| 5 | g.149981593_149981597delinsTGAAA | CA1590738846 | SLC26A2 | c.2000_2004delinsTGAAA (p.Leu667=) c.372+3242_372+3246delinsTGAAA (n.372+3242_372+3246delinsTGAAA) | |
| 5 | g.149981594G>A | CA3505529 | SLC26A2 | c.2001G>A (p.Leu667=) c.372+3243G>A (n.372+3243G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981594G>C | CA447402984 | SLC26A2 | c.2001G>C (p.Leu667=) c.372+3243G>C (n.372+3243G>C) | |
| 5 | g.149981594G= | CA1590738847 | SLC26A2 | c.2001G= (p.Leu667=) c.372+3243G= (n.372+3243G=) | |
| 5 | g.149981594G>T | CA447402985 | SLC26A2 | c.2001G>T (p.Leu667=) c.372+3243G>T (n.372+3243G>T) | |
| 5 | g.149981597_149981600del | CA563955710 | SLC26A2 | c.2004_2007del (p.Glu669PhefsTer21) c.372+3246_372+3249del (n.372+3246_372+3249del) | ClinVar dbSNP gnomAD v2 |
| 5 | g.149981595A= | CA1590738848 | SLC26A2 | c.2002A= (p.Lys668=) c.372+3244A= (n.372+3244A=) | |
| 5 | g.149981595A>C | CA361709603 | SLC26A2 | c.2002A>C (p.Lys668Gln) c.372+3244A>C (n.372+3244A>C) | |
| 5 | g.149981595A>G | CA361709605 | SLC26A2 | c.2002A>G (p.Lys668Glu) c.372+3244A>G (n.372+3244A>G) | dbSNP gnomAD v4 |
| 5 | g.149981595A>T | CA361709604 | SLC26A2 | c.2002A>T (p.Lys668Ter) c.372+3244A>T (n.372+3244A>T) | |
| 5 | g.149981596A>C | CA361709606 | SLC26A2 | c.2003A>C (p.Lys668Thr) c.372+3245A>C (n.372+3245A>C) | |
| 5 | g.149981596A>G | CA361709607 | SLC26A2 | c.2003A>G (p.Lys668Arg) c.372+3245A>G (n.372+3245A>G) | |
| 5 | g.149981596A>T | CA361709608 | SLC26A2 | c.2003A>T (p.Lys668Ile) c.372+3245A>T (n.372+3245A>T) | |
| 5 | g.149981597A>C | CA361709609 | SLC26A2 | c.2004A>C (p.Lys668Asn) c.372+3246A>C (n.372+3246A>C) | |
| 5 | g.149981597A>G | CA447402986 | SLC26A2 | c.2004A>G (p.Lys668=) c.372+3246A>G (n.372+3246A>G) | ClinVar dbSNP |
| 5 | g.149981597A>T | CA361709610 | SLC26A2 | c.2004A>T (p.Lys668Asn) c.372+3246A>T (n.372+3246A>T) | |
| 5 | g.149981598G>A | CA361709611 | SLC26A2 | c.2005G>A (p.Glu669Lys) c.372+3247G>A (n.372+3247G>A) | dbSNP |
| 5 | g.149981598G>C | CA361709612 | SLC26A2 | c.2005G>C (p.Glu669Gln) c.372+3247G>C (n.372+3247G>C) | |
| 5 | g.149981598G= | CA1590738849 | SLC26A2 | c.2005G= (p.Glu669=) c.372+3247G= (n.372+3247G=) | |
| 5 | g.149981598G>T | CA361709613 | SLC26A2 | c.2005G>T (p.Glu669Ter) c.372+3247G>T (n.372+3247G>T) | |
| 5 | g.149981599A= | CA1590738850 | SLC26A2 | c.2006A= (p.Glu669=) c.372+3248A= (n.372+3248A=) | |
| 5 | g.149981599A>C | CA361709614 | SLC26A2 | c.2006A>C (p.Glu669Ala) c.372+3248A>C (n.372+3248A>C) | |
| 5 | g.149981599A>G | CA361709615 | SLC26A2 | c.2006A>G (p.Glu669Gly) c.372+3248A>G (n.372+3248A>G) | |
| 5 | g.149981599A>T | CA3505530 | SLC26A2 | c.2006A>T (p.Glu669Val) c.372+3248A>T (n.372+3248A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981600A= | CA1590738851 | SLC26A2 | c.2007A= (p.Glu669=) c.372+3249A= (n.372+3249A=) | |
| 5 | g.149981600A>C | CA361709617 | SLC26A2 | c.2007A>C (p.Glu669Asp) c.372+3249A>C (n.372+3249A>C) | |
| 5 | g.149981600A>G | CA447402987 | SLC26A2 | c.2007A>G (p.Glu669=) c.372+3249A>G (n.372+3249A>G) | |
| 5 | g.149981600A>T | CA361709616 | SLC26A2 | c.2007A>T (p.Glu669Asp) c.372+3249A>T (n.372+3249A>T) | dbSNP |
| 5 | g.149981601G>A | CA361709618 | SLC26A2 | c.2008G>A (p.Val670Ile) c.372+3250G>A (n.372+3250G>A) | |
| 5 | g.149981601G>C | CA361709619 | SLC26A2 | c.2008G>C (p.Val670Leu) c.372+3250G>C (n.372+3250G>C) | |
| 5 | g.149981601G>T | CA361709620 | SLC26A2 | c.2008G>T (p.Val670Phe) c.372+3250G>T (n.372+3250G>T) | |
| 5 | g.149981602T>A | CA361709621 | SLC26A2 | c.2009T>A (p.Val670Asp) c.372+3251T>A (n.372+3251T>A) | |
| 5 | g.149981602T>C | CA361709622 | SLC26A2 | c.2009T>C (p.Val670Ala) c.372+3251T>C (n.372+3251T>C) | |
| 5 | g.149981602T>G | CA361709623 | SLC26A2 | c.2009T>G (p.Val670Gly) c.372+3251T>G (n.372+3251T>G) | |
| 5 | g.149981603T>A | CA447402990 | SLC26A2 | c.2010T>A (p.Val670=) c.372+3252T>A (n.372+3252T>A) | |
| 5 | g.149981603T>C | CA447402989 | SLC26A2 | c.2010T>C (p.Val670=) c.372+3252T>C (n.372+3252T>C) | |
| 5 | g.149981603T>G | CA447402988 | SLC26A2 | c.2010T>G (p.Val670=) c.372+3252T>G (n.372+3252T>G) | |
| 5 | g.149981604C>A | CA361709625 | SLC26A2 | c.2011C>A (p.Arg671Ser) c.372+3253C>A (n.372+3253C>A) | |
| 5 | g.149981604C= | CA1590738852 | SLC26A2 | c.2011C= (p.Arg671=) c.372+3253C= (n.372+3253C=) | |
| 5 | g.149981604C>G | CA361709624 | SLC26A2 | c.2011C>G (p.Arg671Gly) c.372+3253C>G (n.372+3253C>G) | |
| 5 | g.149981604C>T | CA3505531 | SLC26A2 | c.2011C>T (p.Arg671Cys) c.372+3253C>T (n.372+3253C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981605G>A | CA129084797 | SLC26A2 | c.2012G>A (p.Arg671His) c.372+3254G>A (n.372+3254G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149981605G>C | CA361709626 | SLC26A2 | c.2012G>C (p.Arg671Pro) c.372+3254G>C (n.372+3254G>C) | |
| 5 | g.149981605G= | CA1590738853 | SLC26A2 | c.2012G= (p.Arg671=) c.372+3254G= (n.372+3254G=) | |
| 5 | g.149981605G>T | CA361709627 | SLC26A2 | c.2012G>T (p.Arg671Leu) c.372+3254G>T (n.372+3254G>T) | gnomAD v4 |
| 5 | g.149981606C>A | CA447402991 | SLC26A2 | c.2013C>A (p.Arg671=) c.372+3255C>A (n.372+3255C>A) | |
| 5 | g.149981606C>G | CA447402992 | SLC26A2 | c.2013C>G (p.Arg671=) c.372+3255C>G (n.372+3255C>G) | |
| 5 | g.149981606C>T | CA447402993 | SLC26A2 | c.2013C>T (p.Arg671=) c.372+3255C>T (n.372+3255C>T) | ClinVar |
| 5 | g.149981606_149981608delinsCAG | CA1590738854 | SLC26A2 | c.2013_2015delinsCAG (p.Arg671=) c.372+3255_372+3257delinsCAG (n.372+3255_372+3257delinsCAG) | |
| 5 | g.149981607A>C | CA447402994 | SLC26A2 | c.2014A>C (p.Arg672=) c.372+3256A>C (n.372+3256A>C) | |
| 5 | g.149981607A>G | CA361709628 | SLC26A2 | c.2014A>G (p.Arg672Gly) c.372+3256A>G (n.372+3256A>G) | gnomAD v4 |
| 5 | g.149981607A>T | CA361709629 | SLC26A2 | c.2014A>T (p.Arg672Ter) c.372+3256A>T (n.372+3256A>T) | |
| 5 | g.149981610_149981611del | CA3505532 | SLC26A2 | c.2017_2018del (p.Asp673LeufsTer2) c.372+3259_372+3260del (n.372+3259_372+3260del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981608G>A | CA361709632 | SLC26A2 | c.2015G>A (p.Arg672Lys) c.372+3257G>A (n.372+3257G>A) | |
| 5 | g.149981608G>C | CA361709630 | SLC26A2 | c.2015G>C (p.Arg672Thr) c.372+3257G>C (n.372+3257G>C) | |
| 5 | g.149981608G>T | CA361709631 | SLC26A2 | c.2015G>T (p.Arg672Ile) c.372+3257G>T (n.372+3257G>T) | |
| 5 | g.149981609A>C | CA361709633 | SLC26A2 | c.2016A>C (p.Arg672Ser) c.372+3258A>C (n.372+3258A>C) | |
| 5 | g.149981609A>G | CA447402995 | SLC26A2 | c.2016A>G (p.Arg672=) c.372+3258A>G (n.372+3258A>G) | |
| 5 | g.149981609A>T | CA361709634 | SLC26A2 | c.2016A>T (p.Arg672Ser) c.372+3258A>T (n.372+3258A>T) | |
| 5 | g.149981610G>A | CA361709635 | SLC26A2 | c.2017G>A (p.Asp673Asn) c.372+3259G>A (n.372+3259G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981610G>C | CA361709636 | SLC26A2 | c.2017G>C (p.Asp673His) c.372+3259G>C (n.372+3259G>C) | |
| 5 | g.149981610G= | CA1590738855 | SLC26A2 | c.2017G= (p.Asp673=) c.372+3259G= (n.372+3259G=) | |
| 5 | g.149981610G>T | CA361709637 | SLC26A2 | c.2017G>T (p.Asp673Tyr) c.372+3259G>T (n.372+3259G>T) | |
| 5 | g.149981611A= | CA1590738856 | SLC26A2 | c.2018A= (p.Asp673=) c.372+3260A= (n.372+3260A=) | |
| 5 | g.149981611A>C | CA3505534 | SLC26A2 | c.2018A>C (p.Asp673Ala) c.372+3260A>C (n.372+3260A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981611A>G | CA16609725 | SLC26A2 | c.2018A>G (p.Asp673Gly) c.372+3260A>G (n.372+3260A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981611A>T | CA3505533 | SLC26A2 | c.2018A>T (p.Asp673Val) c.372+3260A>T (n.372+3260A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981612T>A | CA361709638 | SLC26A2 | c.2019T>A (p.Asp673Glu) c.372+3261T>A (n.372+3261T>A) | |
| 5 | g.149981612T>C | CA447402996 | SLC26A2 | c.2019T>C (p.Asp673=) c.372+3261T>C (n.372+3261T>C) | |
| 5 | g.149981612T>G | CA361709639 | SLC26A2 | c.2019T>G (p.Asp673Glu) c.372+3261T>G (n.372+3261T>G) | |
| 5 | g.149981613T>A | CA361709640 | SLC26A2 | c.2020T>A (p.Tyr674Asn) c.372+3262T>A (n.372+3262T>A) | |
| 5 | g.149981613T>C | CA361709641 | SLC26A2 | c.2020T>C (p.Tyr674His) c.372+3262T>C (n.372+3262T>C) | |
| 5 | g.149981613T>G | CA361709642 | SLC26A2 | c.2020T>G (p.Tyr674Asp) c.372+3262T>G (n.372+3262T>G) | |
| 5 | g.149981614A= | CA1590738857 | SLC26A2 | c.2021A= (p.Tyr674=) c.372+3263A= (n.372+3263A=) | |
| 5 | g.149981614A>C | CA361709644 | SLC26A2 | c.2021A>C (p.Tyr674Ser) c.372+3263A>C (n.372+3263A>C) | |
| 5 | g.149981614A>G | CA3505535 | SLC26A2 | c.2021A>G (p.Tyr674Cys) c.372+3263A>G (n.372+3263A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981614A>T | CA361709643 | SLC26A2 | c.2021A>T (p.Tyr674Phe) c.372+3263A>T (n.372+3263A>T) | dbSNP |
| 5 | g.149981615T>A | CA361709645 | SLC26A2 | c.2022T>A (p.Tyr674Ter) c.372+3264T>A (n.372+3264T>A) | |
| 5 | g.149981615T>C | CA447402997 | SLC26A2 | c.2022T>C (p.Tyr674=) c.372+3264T>C (n.372+3264T>C) | |
| 5 | g.149981615T>G | CA361709646 | SLC26A2 | c.2022T>G (p.Tyr674Ter) c.372+3264T>G (n.372+3264T>G) | |
| 5 | g.149981616G>A | CA361709647 | SLC26A2 | c.2023G>A (p.Glu675Lys) c.372+3265G>A (n.372+3265G>A) | |
| 5 | g.149981616G>C | CA361709648 | SLC26A2 | c.2023G>C (p.Glu675Gln) c.372+3265G>C (n.372+3265G>C) | |
| 5 | g.149981616G>T | CA361709649 | SLC26A2 | c.2023G>T (p.Glu675Ter) c.372+3265G>T (n.372+3265G>T) | |
| 5 | g.149981617A>C | CA361709650 | SLC26A2 | c.2024A>C (p.Glu675Ala) c.372+3266A>C (n.372+3266A>C) | |
| 5 | g.149981617A>G | CA361709651 | SLC26A2 | c.2024A>G (p.Glu675Gly) c.372+3266A>G (n.372+3266A>G) | |
| 5 | g.149981617A>T | CA361709652 | SLC26A2 | c.2024A>T (p.Glu675Val) c.372+3266A>T (n.372+3266A>T) | |
| 5 | g.149981618A= | CA1590738858 | SLC26A2 | c.2025A= (p.Glu675=) c.372+3267A= (n.372+3267A=) | |
| 5 | g.149981618A>C | CA361709653 | SLC26A2 | c.2025A>C (p.Glu675Asp) c.372+3267A>C (n.372+3267A>C) | |
| 5 | g.149981618A>G | CA447149005 | SLC26A2 | c.2025A>G (p.Glu675=) c.372+3267A>G (n.372+3267A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981618A>T | CA361709654 | SLC26A2 | c.2025A>T (p.Glu675Asp) c.372+3267A>T (n.372+3267A>T) | |
| 5 | g.149981619G>A | CA3505536 | SLC26A2 | c.2026G>A (p.Ala676Thr) c.372+3268G>A (n.372+3268G>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149981619G>C | CA361709655 | SLC26A2 | c.2026G>C (p.Ala676Pro) c.372+3268G>C (n.372+3268G>C) | |
| 5 | g.149981619G= | CA1590738859 | SLC26A2 | c.2026G= (p.Ala676=) c.372+3268G= (n.372+3268G=) | |
| 5 | g.149981619G>T | CA361709656 | SLC26A2 | c.2026G>T (p.Ala676Ser) c.372+3268G>T (n.372+3268G>T) | |
| 5 | g.149981620C>A | CA361709659 | SLC26A2 | c.2027C>A (p.Ala676Asp) c.372+3269C>A (n.372+3269C>A) | |
| 5 | g.149981620C>G | CA361709658 | SLC26A2 | c.2027C>G (p.Ala676Gly) c.372+3269C>G (n.372+3269C>G) | |
| 5 | g.149981620C>T | CA361709657 | SLC26A2 | c.2027C>T (p.Ala676Val) c.372+3269C>T (n.372+3269C>T) | |
| 5 | g.149981621C>A | CA447149018 | SLC26A2 | c.2028C>A (p.Ala676=) c.372+3270C>A (n.372+3270C>A) | |
| 5 | g.149981621C>G | CA447149020 | SLC26A2 | c.2028C>G (p.Ala676=) c.372+3270C>G (n.372+3270C>G) | |
| 5 | g.149981621C>T | CA447149021 | SLC26A2 | c.2028C>T (p.Ala676=) c.372+3270C>T (n.372+3270C>T) | gnomAD v4 |
| 5 | g.149981622A= | CA1590738860 | SLC26A2 | c.2029A= (p.Ile677=) c.372+3271A= (n.372+3271A=) | |
| 5 | g.149981622A>C | CA361709660 | SLC26A2 | c.2029A>C (p.Ile677Leu) c.372+3271A>C (n.372+3271A>C) | gnomAD v4 |
| 5 | g.149981622A>G | CA3505537 | SLC26A2 | c.2029A>G (p.Ile677Val) c.372+3271A>G (n.372+3271A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981622A>T | CA361709661 | SLC26A2 | c.2029A>T (p.Ile677Phe) c.372+3271A>T (n.372+3271A>T) | dbSNP |
| 5 | g.149981623T>A | CA361709662 | SLC26A2 | c.2030T>A (p.Ile677Asn) c.372+3272T>A (n.372+3272T>A) | |
| 5 | g.149981623T>C | CA361709663 | SLC26A2 | c.2030T>C (p.Ile677Thr) c.372+3272T>C (n.372+3272T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981623T>G | CA361709664 | SLC26A2 | c.2030T>G (p.Ile677Ser) c.372+3272T>G (n.372+3272T>G) | |
| 5 | g.149981623T= | CA1590738861 | SLC26A2 | c.2030T= (p.Ile677=) c.372+3272T= (n.372+3272T=) | |
| 5 | g.149981624T>A | CA447149038 | SLC26A2 | c.2031T>A (p.Ile677=) c.372+3273T>A (n.372+3273T>A) | |
| 5 | g.149981624T>C | CA447149033 | SLC26A2 | c.2031T>C (p.Ile677=) c.372+3273T>C (n.372+3273T>C) | gnomAD v4 |
| 5 | g.149981624T>G | CA361709665 | SLC26A2 | c.2031T>G (p.Ile677Met) c.372+3273T>G (n.372+3273T>G) | |
| 5 | g.149981625G>A | CA361709666 | SLC26A2 | c.2032G>A (p.Gly678Arg) c.372+3274G>A (n.372+3274G>A) | gnomAD v4 |
| 5 | g.149981625G>C | CA3505538 | SLC26A2 | c.2032G>C (p.Gly678Arg) c.372+3274G>C (n.372+3274G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981625G= | CA1590738862 | SLC26A2 | c.2032G= (p.Gly678=) c.372+3274G= (n.372+3274G=) | |
| 5 | g.149981625G>T | CA361709667 | SLC26A2 | c.2032G>T (p.Gly678Ter) c.372+3274G>T (n.372+3274G>T) | |
| 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=) | |
| 5 | g.149981639G>T | CA129084834 | SLC26A2 | c.2046G>T (p.Leu682=) c.372+3288G>T (n.372+3288G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981640C>A | CA361709694 | SLC26A2 | c.2047C>A (p.Leu683Met) c.372+3289C>A (n.372+3289C>A) | |
| 5 | g.149981640C>G | CA361709695 | SLC26A2 | c.2047C>G (p.Leu683Val) c.372+3289C>G (n.372+3289C>G) | |
| 5 | g.149981640C>T | CA447149116 | SLC26A2 | c.2047C>T (p.Leu683=) c.372+3289C>T (n.372+3289C>T) | |
| 5 | g.149981641T>A | CA361709696 | SLC26A2 | c.2048T>A (p.Leu683Gln) c.372+3290T>A (n.372+3290T>A) | |
| 5 | g.149981641T>C | CA361709697 | SLC26A2 | c.2048T>C (p.Leu683Pro) c.372+3290T>C (n.372+3290T>C) | |
| 5 | g.149981641T>G | CA361709698 | SLC26A2 | c.2048T>G (p.Leu683Arg) c.372+3290T>G (n.372+3290T>G) | |
| 5 | g.149981642G>A | CA447149122 | SLC26A2 | c.2049G>A (p.Leu683=) c.372+3291G>A (n.372+3291G>A) | gnomAD v4 |
| 5 | g.149981642G>C | CA447149125 | SLC26A2 | c.2049G>C (p.Leu683=) c.372+3291G>C (n.372+3291G>C) | gnomAD v4 |
| 5 | g.149981642G>T | CA447149126 | SLC26A2 | c.2049G>T (p.Leu683=) c.372+3291G>T (n.372+3291G>T) | ClinVar dbSNP |
| 5 | g.149981643G>A | CA361709700 | SLC26A2 | c.2050G>A (p.Ala684Thr) c.372+3292G>A (n.372+3292G>A) | |
| 5 | g.149981643G>C | CA3505543 | SLC26A2 | c.2050G>C (p.Ala684Pro) c.372+3292G>C (n.372+3292G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981643G= | CA1590738871 | SLC26A2 | c.2050G= (p.Ala684=) c.372+3292G= (n.372+3292G=) | |
| 5 | g.149981643G>T | CA361709699 | SLC26A2 | c.2050G>T (p.Ala684Ser) c.372+3292G>T (n.372+3292G>T) | |
| 5 | g.149981644C>A | CA361709701 | SLC26A2 | c.2051C>A (p.Ala684Asp) c.372+3293C>A (n.372+3293C>A) | |
| 5 | g.149981644C= | CA1590738872 | SLC26A2 | c.2051C= (p.Ala684=) c.372+3293C= (n.372+3293C=) | |
| 5 | g.149981644C>G | CA361709702 | SLC26A2 | c.2051C>G (p.Ala684Gly) c.372+3293C>G (n.372+3293C>G) | |
| 5 | g.149981644C>T | CA3505544 | SLC26A2 | c.2051C>T (p.Ala684Val) c.372+3293C>T (n.372+3293C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981645T>A | CA447149143 | SLC26A2 | c.2052T>A (p.Ala684=) c.372+3294T>A (n.372+3294T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981645T>C | CA447149142 | SLC26A2 | c.2052T>C (p.Ala684=) c.372+3294T>C (n.372+3294T>C) | |
| 5 | g.149981645T>G | CA447149140 | SLC26A2 | c.2052T>G (p.Ala684=) c.372+3294T>G (n.372+3294T>G) | |
| 5 | g.149981645T= | CA1590738873 | SLC26A2 | c.2052T= (p.Ala684=) c.372+3294T= (n.372+3294T=) | |
| 5 | g.149981646C>A | CA361709703 | SLC26A2 | c.2053C>A (p.Gln685Lys) c.372+3295C>A (n.372+3295C>A) | |
| 5 | g.149981646C>G | CA361709704 | SLC26A2 | c.2053C>G (p.Gln685Glu) c.372+3295C>G (n.372+3295C>G) | |
| 5 | g.149981646C>T | CA361709705 | SLC26A2 | c.2053C>T (p.Gln685Ter) c.372+3295C>T (n.372+3295C>T) | |
| 5 | g.149981647A= | CA1590738874 | SLC26A2 | c.2054A= (p.Gln685=) c.372+3296A= (n.372+3296A=) | |
| 5 | g.149981647A>C | CA361709708 | SLC26A2 | c.2054A>C (p.Gln685Pro) c.372+3296A>C (n.372+3296A>C) | |
| 5 | g.149981647A>G | CA361709706 | SLC26A2 | c.2054A>G (p.Gln685Arg) c.372+3296A>G (n.372+3296A>G) | dbSNP |
| 5 | g.149981647A>T | CA361709707 | SLC26A2 | c.2054A>T (p.Gln685Leu) c.372+3296A>T (n.372+3296A>T) | dbSNP |
| 5 | g.149981648G>A | CA447149154 | SLC26A2 | c.2055G>A (p.Gln685=) c.372+3297G>A (n.372+3297G>A) | ClinVar dbSNP |
| 5 | g.149981648G>C | CA361709709 | SLC26A2 | c.2055G>C (p.Gln685His) c.372+3297G>C (n.372+3297G>C) | |
| 5 | g.149981648G>T | CA361709710 | SLC26A2 | c.2055G>T (p.Gln685His) c.372+3297G>T (n.372+3297G>T) |