Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22262138G>A | CA5923316 | ANO5 | c.1190G>A (p.Arg397Gln) c.1598G>A (p.Arg533Gln) n.2634G>A c.1595G>A (p.Arg532Gln) c.1640G>A (p.Arg547Gln) n.1975G>A c.1637G>A (p.Arg546Gln) c.1562G>A (p.Arg521Gln) c.1559G>A (p.Arg520Gln) c.1547G>A (p.Arg516Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262138G>C | CA379922487 | ANO5 | c.1190G>C (p.Arg397Pro) c.1598G>C (p.Arg533Pro) n.2634G>C c.1595G>C (p.Arg532Pro) c.1640G>C (p.Arg547Pro) n.1975G>C c.1637G>C (p.Arg546Pro) c.1562G>C (p.Arg521Pro) c.1559G>C (p.Arg520Pro) c.1547G>C (p.Arg516Pro) | |
11 | g.22262138G= | CA1957419810 | ANO5 | c.1190G= (p.Arg397=) c.1598G= (p.Arg533=) n.2634G= c.1595G= (p.Arg532=) c.1640G= (p.Arg547=) n.1975G= c.1637G= (p.Arg546=) c.1562G= (p.Arg521=) c.1559G= (p.Arg520=) c.1547G= (p.Arg516=) | |
11 | g.22262138G>T | CA379922486 | ANO5 | c.1190G>T (p.Arg397Leu) c.1598G>T (p.Arg533Leu) n.2634G>T c.1595G>T (p.Arg532Leu) c.1640G>T (p.Arg547Leu) n.1975G>T c.1637G>T (p.Arg546Leu) c.1562G>T (p.Arg521Leu) c.1559G>T (p.Arg520Leu) c.1547G>T (p.Arg516Leu) | gnomAD v4 |
11 | g.22262139A= | CA1957419811 | ANO5 | c.1191A= (p.Arg397=) c.1599A= (p.Arg533=) n.2635A= c.1596A= (p.Arg532=) c.1641A= (p.Arg547=) n.1976A= c.1638A= (p.Arg546=) c.1563A= (p.Arg521=) c.1560A= (p.Arg520=) c.1548A= (p.Arg516=) | |
11 | g.22262139A>C | CA10630613 | ANO5 | c.1191A>C (p.Arg397=) c.1599A>C (p.Arg533=) n.2635A>C c.1596A>C (p.Arg532=) c.1641A>C (p.Arg547=) n.1976A>C c.1638A>C (p.Arg546=) c.1563A>C (p.Arg521=) c.1560A>C (p.Arg520=) c.1548A>C (p.Arg516=) | ClinVar dbSNP |
11 | g.22262139A>G | CA473407215 | ANO5 | c.1191A>G (p.Arg397=) c.1599A>G (p.Arg533=) n.2635A>G c.1596A>G (p.Arg532=) c.1641A>G (p.Arg547=) n.1976A>G c.1638A>G (p.Arg546=) c.1563A>G (p.Arg521=) c.1560A>G (p.Arg520=) c.1548A>G (p.Arg516=) | |
11 | g.22262139A>T | CA473407216 | ANO5 | c.1191A>T (p.Arg397=) c.1599A>T (p.Arg533=) n.2635A>T c.1596A>T (p.Arg532=) c.1641A>T (p.Arg547=) n.1976A>T c.1638A>T (p.Arg546=) c.1563A>T (p.Arg521=) c.1560A>T (p.Arg520=) c.1548A>T (p.Arg516=) | |
11 | g.22262140A>C | CA379922488 | ANO5 | c.1192A>C (p.Thr398Pro) c.1600A>C (p.Thr534Pro) n.2636A>C c.1597A>C (p.Thr533Pro) c.1642A>C (p.Thr548Pro) n.1977A>C c.1639A>C (p.Thr547Pro) c.1564A>C (p.Thr522Pro) c.1561A>C (p.Thr521Pro) c.1549A>C (p.Thr517Pro) | |
11 | g.22262140A>G | CA379922489 | ANO5 | c.1192A>G (p.Thr398Ala) c.1600A>G (p.Thr534Ala) n.2636A>G c.1597A>G (p.Thr533Ala) c.1642A>G (p.Thr548Ala) n.1977A>G c.1639A>G (p.Thr547Ala) c.1564A>G (p.Thr522Ala) c.1561A>G (p.Thr521Ala) c.1549A>G (p.Thr517Ala) | |
11 | g.22262140A>T | CA379922490 | ANO5 | c.1192A>T (p.Thr398Ser) c.1600A>T (p.Thr534Ser) n.2636A>T c.1597A>T (p.Thr533Ser) c.1642A>T (p.Thr548Ser) n.1977A>T c.1639A>T (p.Thr547Ser) c.1564A>T (p.Thr522Ser) c.1561A>T (p.Thr521Ser) c.1549A>T (p.Thr517Ser) | |
11 | g.22262141C>A | CA379922491 | ANO5 | c.1193C>A (p.Thr398Lys) c.1601C>A (p.Thr534Lys) n.2637C>A c.1598C>A (p.Thr533Lys) c.1643C>A (p.Thr548Lys) n.1978C>A c.1640C>A (p.Thr547Lys) c.1565C>A (p.Thr522Lys) c.1562C>A (p.Thr521Lys) c.1550C>A (p.Thr517Lys) | |
11 | g.22262141C= | CA1957419812 | ANO5 | c.1193C= (p.Thr398=) c.1601C= (p.Thr534=) n.2637C= c.1598C= (p.Thr533=) c.1643C= (p.Thr548=) n.1978C= c.1640C= (p.Thr547=) c.1565C= (p.Thr522=) c.1562C= (p.Thr521=) c.1550C= (p.Thr517=) | |
11 | g.22262141C>G | CA379922492 | ANO5 | c.1193C>G (p.Thr398Arg) c.1601C>G (p.Thr534Arg) n.2637C>G c.1598C>G (p.Thr533Arg) c.1643C>G (p.Thr548Arg) n.1978C>G c.1640C>G (p.Thr547Arg) c.1565C>G (p.Thr522Arg) c.1562C>G (p.Thr521Arg) c.1550C>G (p.Thr517Arg) | |
11 | g.22262141C>T | CA218767930 | ANO5 | c.1193C>T (p.Thr398Ile) c.1601C>T (p.Thr534Ile) n.2637C>T c.1598C>T (p.Thr533Ile) c.1643C>T (p.Thr548Ile) n.1978C>T c.1640C>T (p.Thr547Ile) c.1565C>T (p.Thr522Ile) c.1562C>T (p.Thr521Ile) c.1550C>T (p.Thr517Ile) | dbSNP |
11 | g.22262142A= | CA1957419813 | ANO5 | c.1194A= (p.Thr398=) c.1602A= (p.Thr534=) n.2638A= c.1599A= (p.Thr533=) c.1644A= (p.Thr548=) n.1979A= c.1641A= (p.Thr547=) c.1566A= (p.Thr522=) c.1563A= (p.Thr521=) c.1551A= (p.Thr517=) | |
11 | g.22262142A>C | CA473407218 | ANO5 | c.1194A>C (p.Thr398=) c.1602A>C (p.Thr534=) n.2638A>C c.1599A>C (p.Thr533=) c.1644A>C (p.Thr548=) n.1979A>C c.1641A>C (p.Thr547=) c.1566A>C (p.Thr522=) c.1563A>C (p.Thr521=) c.1551A>C (p.Thr517=) | |
11 | g.22262142A>G | CA473407219 | ANO5 | c.1194A>G (p.Thr398=) c.1602A>G (p.Thr534=) n.2638A>G c.1599A>G (p.Thr533=) c.1644A>G (p.Thr548=) n.1979A>G c.1641A>G (p.Thr547=) c.1566A>G (p.Thr522=) c.1563A>G (p.Thr521=) c.1551A>G (p.Thr517=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22262142A>T | CA473407220 | ANO5 | c.1194A>T (p.Thr398=) c.1602A>T (p.Thr534=) n.2638A>T c.1599A>T (p.Thr533=) c.1644A>T (p.Thr548=) n.1979A>T c.1641A>T (p.Thr547=) c.1566A>T (p.Thr522=) c.1563A>T (p.Thr521=) c.1551A>T (p.Thr517=) | |
11 | g.22262143T>A | CA379922495 | ANO5 | c.1195T>A (p.Tyr399Asn) c.1603T>A (p.Tyr535Asn) n.2639T>A c.1600T>A (p.Tyr534Asn) c.1645T>A (p.Tyr549Asn) n.1980T>A c.1642T>A (p.Tyr548Asn) c.1567T>A (p.Tyr523Asn) c.1564T>A (p.Tyr522Asn) c.1552T>A (p.Tyr518Asn) | |
11 | g.22262143T>C | CA379922493 | ANO5 | c.1195T>C (p.Tyr399His) c.1603T>C (p.Tyr535His) n.2639T>C c.1600T>C (p.Tyr534His) c.1645T>C (p.Tyr549His) n.1980T>C c.1642T>C (p.Tyr548His) c.1567T>C (p.Tyr523His) c.1564T>C (p.Tyr522His) c.1552T>C (p.Tyr518His) | |
11 | g.22262143T>G | CA379922494 | ANO5 | c.1195T>G (p.Tyr399Asp) c.1603T>G (p.Tyr535Asp) n.2639T>G c.1600T>G (p.Tyr534Asp) c.1645T>G (p.Tyr549Asp) n.1980T>G c.1642T>G (p.Tyr548Asp) c.1567T>G (p.Tyr523Asp) c.1564T>G (p.Tyr522Asp) c.1552T>G (p.Tyr518Asp) | |
11 | g.22262144A>C | CA379922496 | ANO5 | c.1196A>C (p.Tyr399Ser) c.1604A>C (p.Tyr535Ser) n.2640A>C c.1601A>C (p.Tyr534Ser) c.1646A>C (p.Tyr549Ser) n.1981A>C c.1643A>C (p.Tyr548Ser) c.1568A>C (p.Tyr523Ser) c.1565A>C (p.Tyr522Ser) c.1553A>C (p.Tyr518Ser) | |
11 | g.22262144A>G | CA379922497 | ANO5 | c.1196A>G (p.Tyr399Cys) c.1604A>G (p.Tyr535Cys) n.2640A>G c.1601A>G (p.Tyr534Cys) c.1646A>G (p.Tyr549Cys) n.1981A>G c.1643A>G (p.Tyr548Cys) c.1568A>G (p.Tyr523Cys) c.1565A>G (p.Tyr522Cys) c.1553A>G (p.Tyr518Cys) | |
11 | g.22262144A>T | CA379922498 | ANO5 | c.1196A>T (p.Tyr399Phe) c.1604A>T (p.Tyr535Phe) n.2640A>T c.1601A>T (p.Tyr534Phe) c.1646A>T (p.Tyr549Phe) n.1981A>T c.1643A>T (p.Tyr548Phe) c.1568A>T (p.Tyr523Phe) c.1565A>T (p.Tyr522Phe) c.1553A>T (p.Tyr518Phe) | |
11 | g.22262145C>A | CA379922499 | ANO5 | c.1197C>A (p.Tyr399Ter) c.1605C>A (p.Tyr535Ter) n.2641C>A c.1602C>A (p.Tyr534Ter) c.1647C>A (p.Tyr549Ter) n.1982C>A c.1644C>A (p.Tyr548Ter) c.1569C>A (p.Tyr523Ter) c.1566C>A (p.Tyr522Ter) c.1554C>A (p.Tyr518Ter) | |
11 | g.22262145C>G | CA379922500 | ANO5 | c.1197C>G (p.Tyr399Ter) c.1605C>G (p.Tyr535Ter) n.2641C>G c.1602C>G (p.Tyr534Ter) c.1647C>G (p.Tyr549Ter) n.1982C>G c.1644C>G (p.Tyr548Ter) c.1569C>G (p.Tyr523Ter) c.1566C>G (p.Tyr522Ter) c.1554C>G (p.Tyr518Ter) | |
11 | g.22262145C>T | CA473407221 | ANO5 | c.1197C>T (p.Tyr399=) c.1605C>T (p.Tyr535=) n.2641C>T c.1602C>T (p.Tyr534=) c.1647C>T (p.Tyr549=) n.1982C>T c.1644C>T (p.Tyr548=) c.1569C>T (p.Tyr523=) c.1566C>T (p.Tyr522=) c.1554C>T (p.Tyr518=) | gnomAD v4 |
11 | g.22262146C>A | CA379922503 | ANO5 | c.1198C>A (p.Gln400Lys) c.1606C>A (p.Gln536Lys) n.2642C>A c.1603C>A (p.Gln535Lys) c.1648C>A (p.Gln550Lys) n.1983C>A c.1645C>A (p.Gln549Lys) c.1570C>A (p.Gln524Lys) c.1567C>A (p.Gln523Lys) c.1555C>A (p.Gln519Lys) | ClinVar dbSNP |
11 | g.22262146C= | CA1957419814 | ANO5 | c.1198C= (p.Gln400=) c.1606C= (p.Gln536=) n.2642C= c.1603C= (p.Gln535=) c.1648C= (p.Gln550=) n.1983C= c.1645C= (p.Gln549=) c.1570C= (p.Gln524=) c.1567C= (p.Gln523=) c.1555C= (p.Gln519=) | |
11 | g.22262146C>G | CA379922501 | ANO5 | c.1198C>G (p.Gln400Glu) c.1606C>G (p.Gln536Glu) n.2642C>G c.1603C>G (p.Gln535Glu) c.1648C>G (p.Gln550Glu) n.1983C>G c.1645C>G (p.Gln549Glu) c.1570C>G (p.Gln524Glu) c.1567C>G (p.Gln523Glu) c.1555C>G (p.Gln519Glu) | |
11 | g.22262146C>T | CA379922502 | ANO5 | c.1198C>T (p.Gln400Ter) c.1606C>T (p.Gln536Ter) n.2642C>T c.1603C>T (p.Gln535Ter) c.1648C>T (p.Gln550Ter) n.1983C>T c.1645C>T (p.Gln549Ter) c.1570C>T (p.Gln524Ter) c.1567C>T (p.Gln523Ter) c.1555C>T (p.Gln519Ter) | dbSNP |
11 | g.22262147A>C | CA379922504 | ANO5 | c.1199A>C (p.Gln400Pro) c.1607A>C (p.Gln536Pro) n.2643A>C c.1604A>C (p.Gln535Pro) c.1649A>C (p.Gln550Pro) n.1984A>C c.1646A>C (p.Gln549Pro) c.1571A>C (p.Gln524Pro) c.1568A>C (p.Gln523Pro) c.1556A>C (p.Gln519Pro) | |
11 | g.22262147A>G | CA379922505 | ANO5 | c.1199A>G (p.Gln400Arg) c.1607A>G (p.Gln536Arg) n.2643A>G c.1604A>G (p.Gln535Arg) c.1649A>G (p.Gln550Arg) n.1984A>G c.1646A>G (p.Gln549Arg) c.1571A>G (p.Gln524Arg) c.1568A>G (p.Gln523Arg) c.1556A>G (p.Gln519Arg) | ClinVar gnomAD v4 |
11 | g.22262147A>T | CA379922506 | ANO5 | c.1199A>T (p.Gln400Leu) c.1607A>T (p.Gln536Leu) n.2643A>T c.1604A>T (p.Gln535Leu) c.1649A>T (p.Gln550Leu) n.1984A>T c.1646A>T (p.Gln549Leu) c.1571A>T (p.Gln524Leu) c.1568A>T (p.Gln523Leu) c.1556A>T (p.Gln519Leu) | |
11 | g.22262148G>A | CA473407222 | ANO5 | c.1200G>A (p.Gln400=) c.1608G>A (p.Gln536=) n.2644G>A c.1605G>A (p.Gln535=) c.1650G>A (p.Gln550=) n.1985G>A c.1647G>A (p.Gln549=) c.1572G>A (p.Gln524=) c.1569G>A (p.Gln523=) c.1557G>A (p.Gln519=) | |
11 | g.22262148G>C | CA379922507 | ANO5 | c.1200G>C (p.Gln400His) c.1608G>C (p.Gln536His) n.2644G>C c.1605G>C (p.Gln535His) c.1650G>C (p.Gln550His) n.1985G>C c.1647G>C (p.Gln549His) c.1572G>C (p.Gln524His) c.1569G>C (p.Gln523His) c.1557G>C (p.Gln519His) | |
11 | g.22262148G>T | CA379922508 | ANO5 | c.1200G>T (p.Gln400His) c.1608G>T (p.Gln536His) n.2644G>T c.1605G>T (p.Gln535His) c.1650G>T (p.Gln550His) n.1985G>T c.1647G>T (p.Gln549His) c.1572G>T (p.Gln524His) c.1569G>T (p.Gln523His) c.1557G>T (p.Gln519His) | |
11 | g.22262149G>A | CA379922509 | ANO5 | c.1201G>A (p.Glu401Lys) c.1609G>A (p.Glu537Lys) n.2645G>A c.1606G>A (p.Glu536Lys) c.1651G>A (p.Glu551Lys) n.1986G>A c.1648G>A (p.Glu550Lys) c.1573G>A (p.Glu525Lys) c.1570G>A (p.Glu524Lys) c.1558G>A (p.Glu520Lys) | |
11 | g.22262149G>C | CA379922510 | ANO5 | c.1201G>C (p.Glu401Gln) c.1609G>C (p.Glu537Gln) n.2645G>C c.1606G>C (p.Glu536Gln) c.1651G>C (p.Glu551Gln) n.1986G>C c.1648G>C (p.Glu550Gln) c.1573G>C (p.Glu525Gln) c.1570G>C (p.Glu524Gln) c.1558G>C (p.Glu520Gln) | |
11 | g.22262149G>T | CA379922511 | ANO5 | c.1201G>T (p.Glu401Ter) c.1609G>T (p.Glu537Ter) n.2645G>T c.1606G>T (p.Glu536Ter) c.1651G>T (p.Glu551Ter) n.1986G>T c.1648G>T (p.Glu550Ter) c.1573G>T (p.Glu525Ter) c.1570G>T (p.Glu524Ter) c.1558G>T (p.Glu520Ter) | |
11 | g.22262150A>C | CA379922512 | ANO5 | c.1202A>C (p.Glu401Ala) c.1610A>C (p.Glu537Ala) n.2646A>C c.1607A>C (p.Glu536Ala) c.1652A>C (p.Glu551Ala) n.1987A>C c.1649A>C (p.Glu550Ala) c.1574A>C (p.Glu525Ala) c.1571A>C (p.Glu524Ala) c.1559A>C (p.Glu520Ala) | |
11 | g.22262150A>G | CA379922513 | ANO5 | c.1202A>G (p.Glu401Gly) c.1610A>G (p.Glu537Gly) n.2646A>G c.1607A>G (p.Glu536Gly) c.1652A>G (p.Glu551Gly) n.1987A>G c.1649A>G (p.Glu550Gly) c.1574A>G (p.Glu525Gly) c.1571A>G (p.Glu524Gly) c.1559A>G (p.Glu520Gly) | |
11 | g.22262150A>T | CA379922514 | ANO5 | c.1202A>T (p.Glu401Val) c.1610A>T (p.Glu537Val) n.2646A>T c.1607A>T (p.Glu536Val) c.1652A>T (p.Glu551Val) n.1987A>T c.1649A>T (p.Glu550Val) c.1574A>T (p.Glu525Val) c.1571A>T (p.Glu524Val) c.1559A>T (p.Glu520Val) | |
11 | g.22262151G>A | CA473407223 | ANO5 | c.1203G>A (p.Glu401=) c.1611G>A (p.Glu537=) n.2647G>A c.1608G>A (p.Glu536=) c.1653G>A (p.Glu551=) n.1988G>A c.1650G>A (p.Glu550=) c.1575G>A (p.Glu525=) c.1572G>A (p.Glu524=) c.1560G>A (p.Glu520=) | ClinVar dbSNP |
11 | g.22262151G>C | CA379922515 | ANO5 | c.1203G>C (p.Glu401Asp) c.1611G>C (p.Glu537Asp) n.2647G>C c.1608G>C (p.Glu536Asp) c.1653G>C (p.Glu551Asp) n.1988G>C c.1650G>C (p.Glu550Asp) c.1575G>C (p.Glu525Asp) c.1572G>C (p.Glu524Asp) c.1560G>C (p.Glu520Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22262151G= | CA1957419815 | ANO5 | c.1203G= (p.Glu401=) c.1611G= (p.Glu537=) n.2647G= c.1608G= (p.Glu536=) c.1653G= (p.Glu551=) n.1988G= c.1650G= (p.Glu550=) c.1575G= (p.Glu525=) c.1572G= (p.Glu524=) c.1560G= (p.Glu520=) | |
11 | g.22262151G>T | CA379922516 | ANO5 | c.1203G>T (p.Glu401Asp) c.1611G>T (p.Glu537Asp) n.2647G>T c.1608G>T (p.Glu536Asp) c.1653G>T (p.Glu551Asp) n.1988G>T c.1650G>T (p.Glu550Asp) c.1575G>T (p.Glu525Asp) c.1572G>T (p.Glu524Asp) c.1560G>T (p.Glu520Asp) | |
11 | g.22262152T>A | CA379922517 | ANO5 | c.1204T>A (p.Tyr402Asn) c.1612T>A (p.Tyr538Asn) n.2648T>A c.1609T>A (p.Tyr537Asn) c.1654T>A (p.Tyr552Asn) n.1989T>A c.1651T>A (p.Tyr551Asn) c.1576T>A (p.Tyr526Asn) c.1573T>A (p.Tyr525Asn) c.1561T>A (p.Tyr521Asn) | |
11 | g.22262152T>C | CA379922519 | ANO5 | c.1204T>C (p.Tyr402His) c.1612T>C (p.Tyr538His) n.2648T>C c.1609T>C (p.Tyr537His) c.1654T>C (p.Tyr552His) n.1989T>C c.1651T>C (p.Tyr551His) c.1576T>C (p.Tyr526His) c.1573T>C (p.Tyr525His) c.1561T>C (p.Tyr521His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22262152T>G | CA379922518 | ANO5 | c.1204T>G (p.Tyr402Asp) c.1612T>G (p.Tyr538Asp) n.2648T>G c.1609T>G (p.Tyr537Asp) c.1654T>G (p.Tyr552Asp) n.1989T>G c.1651T>G (p.Tyr551Asp) c.1576T>G (p.Tyr526Asp) c.1573T>G (p.Tyr525Asp) c.1561T>G (p.Tyr521Asp) | |
11 | g.22262152T= | CA1957419816 | ANO5 | c.1204T= (p.Tyr402=) c.1612T= (p.Tyr538=) n.2648T= c.1609T= (p.Tyr537=) c.1654T= (p.Tyr552=) n.1989T= c.1651T= (p.Tyr551=) c.1576T= (p.Tyr526=) c.1573T= (p.Tyr525=) c.1561T= (p.Tyr521=) | |
11 | g.22262153A>C | CA379922520 | ANO5 | c.1205A>C (p.Tyr402Ser) c.1613A>C (p.Tyr538Ser) n.2649A>C c.1610A>C (p.Tyr537Ser) c.1655A>C (p.Tyr552Ser) n.1990A>C c.1652A>C (p.Tyr551Ser) c.1577A>C (p.Tyr526Ser) c.1574A>C (p.Tyr525Ser) c.1562A>C (p.Tyr521Ser) | |
11 | g.22262153A>G | CA379922521 | ANO5 | c.1205A>G (p.Tyr402Cys) c.1613A>G (p.Tyr538Cys) n.2649A>G c.1610A>G (p.Tyr537Cys) c.1655A>G (p.Tyr552Cys) n.1990A>G c.1652A>G (p.Tyr551Cys) c.1577A>G (p.Tyr526Cys) c.1574A>G (p.Tyr525Cys) c.1562A>G (p.Tyr521Cys) | |
11 | g.22262153A>T | CA379922522 | ANO5 | c.1205A>T (p.Tyr402Phe) c.1613A>T (p.Tyr538Phe) n.2649A>T c.1610A>T (p.Tyr537Phe) c.1655A>T (p.Tyr552Phe) n.1990A>T c.1652A>T (p.Tyr551Phe) c.1577A>T (p.Tyr526Phe) c.1574A>T (p.Tyr525Phe) c.1562A>T (p.Tyr521Phe) | |
11 | g.22262154T>A | CA379922523 | ANO5 | c.1206T>A (p.Tyr402Ter) c.1614T>A (p.Tyr538Ter) n.2650T>A c.1611T>A (p.Tyr537Ter) c.1656T>A (p.Tyr552Ter) n.1991T>A c.1653T>A (p.Tyr551Ter) c.1578T>A (p.Tyr526Ter) c.1575T>A (p.Tyr525Ter) c.1563T>A (p.Tyr521Ter) | |
11 | g.22262154T>C | CA473407224 | ANO5 | c.1206T>C (p.Tyr402=) c.1614T>C (p.Tyr538=) n.2650T>C c.1611T>C (p.Tyr537=) c.1656T>C (p.Tyr552=) n.1991T>C c.1653T>C (p.Tyr551=) c.1578T>C (p.Tyr526=) c.1575T>C (p.Tyr525=) c.1563T>C (p.Tyr521=) | |
11 | g.22262154T>G | CA379922524 | ANO5 | c.1206T>G (p.Tyr402Ter) c.1614T>G (p.Tyr538Ter) n.2650T>G c.1611T>G (p.Tyr537Ter) c.1656T>G (p.Tyr552Ter) n.1991T>G c.1653T>G (p.Tyr551Ter) c.1578T>G (p.Tyr526Ter) c.1575T>G (p.Tyr525Ter) c.1563T>G (p.Tyr521Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.22262155G>A | CA5923317 | ANO5 | c.1207G>A (p.Glu403Lys) c.1615G>A (p.Glu539Lys) n.2651G>A c.1612G>A (p.Glu538Lys) c.1657G>A (p.Glu553Lys) n.1992G>A c.1654G>A (p.Glu552Lys) c.1579G>A (p.Glu527Lys) c.1576G>A (p.Glu526Lys) c.1564G>A (p.Glu522Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262155G>C | CA379922525 | ANO5 | c.1207G>C (p.Glu403Gln) c.1615G>C (p.Glu539Gln) n.2651G>C c.1612G>C (p.Glu538Gln) c.1657G>C (p.Glu553Gln) n.1992G>C c.1654G>C (p.Glu552Gln) c.1579G>C (p.Glu527Gln) c.1576G>C (p.Glu526Gln) c.1564G>C (p.Glu522Gln) | |
11 | g.22262155G= | CA1957419817 | ANO5 | c.1207G= (p.Glu403=) c.1615G= (p.Glu539=) n.2651G= c.1612G= (p.Glu538=) c.1657G= (p.Glu553=) n.1992G= c.1654G= (p.Glu552=) c.1579G= (p.Glu527=) c.1576G= (p.Glu526=) c.1564G= (p.Glu522=) | |
11 | g.22262155G>T | CA379922526 | ANO5 | c.1207G>T (p.Glu403Ter) c.1615G>T (p.Glu539Ter) n.2651G>T c.1612G>T (p.Glu538Ter) c.1657G>T (p.Glu553Ter) n.1992G>T c.1654G>T (p.Glu552Ter) c.1579G>T (p.Glu527Ter) c.1576G>T (p.Glu526Ter) c.1564G>T (p.Glu522Ter) | |
11 | g.22262156A>C | CA379922527 | ANO5 | c.1208A>C (p.Glu403Ala) c.1616A>C (p.Glu539Ala) n.2652A>C c.1613A>C (p.Glu538Ala) c.1658A>C (p.Glu553Ala) n.1993A>C c.1655A>C (p.Glu552Ala) c.1580A>C (p.Glu527Ala) c.1577A>C (p.Glu526Ala) c.1565A>C (p.Glu522Ala) | |
11 | g.22262156A>G | CA379922528 | ANO5 | c.1208A>G (p.Glu403Gly) c.1616A>G (p.Glu539Gly) n.2652A>G c.1613A>G (p.Glu538Gly) c.1658A>G (p.Glu553Gly) n.1993A>G c.1655A>G (p.Glu552Gly) c.1580A>G (p.Glu527Gly) c.1577A>G (p.Glu526Gly) c.1565A>G (p.Glu522Gly) | |
11 | g.22262156A>T | CA379922529 | ANO5 | c.1208A>T (p.Glu403Val) c.1616A>T (p.Glu539Val) n.2652A>T c.1613A>T (p.Glu538Val) c.1658A>T (p.Glu553Val) n.1993A>T c.1655A>T (p.Glu552Val) c.1580A>T (p.Glu527Val) c.1577A>T (p.Glu526Val) c.1565A>T (p.Glu522Val) | |
11 | g.22262157G>A | CA473407225 | ANO5 | c.1209G>A (p.Glu403=) c.1617G>A (p.Glu539=) n.2653G>A c.1614G>A (p.Glu538=) c.1659G>A (p.Glu553=) n.1994G>A c.1656G>A (p.Glu552=) c.1581G>A (p.Glu527=) c.1578G>A (p.Glu526=) c.1566G>A (p.Glu522=) | |
11 | g.22262157G>C | CA379922530 | ANO5 | c.1209G>C (p.Glu403Asp) c.1617G>C (p.Glu539Asp) n.2653G>C c.1614G>C (p.Glu538Asp) c.1659G>C (p.Glu553Asp) n.1994G>C c.1656G>C (p.Glu552Asp) c.1581G>C (p.Glu527Asp) c.1578G>C (p.Glu526Asp) c.1566G>C (p.Glu522Asp) | |
11 | g.22262157G>T | CA379922531 | ANO5 | c.1209G>T (p.Glu403Asp) c.1617G>T (p.Glu539Asp) n.2653G>T c.1614G>T (p.Glu538Asp) c.1659G>T (p.Glu553Asp) n.1994G>T c.1656G>T (p.Glu552Asp) c.1581G>T (p.Glu527Asp) c.1578G>T (p.Glu526Asp) c.1566G>T (p.Glu522Asp) | |
11 | g.22262158A>C | CA379922532 | ANO5 | c.1210A>C (p.Ser404Arg) c.1618A>C (p.Ser540Arg) n.2654A>C c.1615A>C (p.Ser539Arg) c.1660A>C (p.Ser554Arg) n.1995A>C c.1657A>C (p.Ser553Arg) c.1582A>C (p.Ser528Arg) c.1579A>C (p.Ser527Arg) c.1567A>C (p.Ser523Arg) | |
11 | g.22262158A>G | CA379922534 | ANO5 | c.1210A>G (p.Ser404Gly) c.1618A>G (p.Ser540Gly) n.2654A>G c.1615A>G (p.Ser539Gly) c.1660A>G (p.Ser554Gly) n.1995A>G c.1657A>G (p.Ser553Gly) c.1582A>G (p.Ser528Gly) c.1579A>G (p.Ser527Gly) c.1567A>G (p.Ser523Gly) | |
11 | g.22262158A>T | CA379922533 | ANO5 | c.1210A>T (p.Ser404Cys) c.1618A>T (p.Ser540Cys) n.2654A>T c.1615A>T (p.Ser539Cys) c.1660A>T (p.Ser554Cys) n.1995A>T c.1657A>T (p.Ser553Cys) c.1582A>T (p.Ser528Cys) c.1579A>T (p.Ser527Cys) c.1567A>T (p.Ser523Cys) | gnomAD v4 |
11 | g.22262159G>A | CA379922535 | ANO5 | c.1211G>A (p.Ser404Asn) c.1619G>A (p.Ser540Asn) n.2655G>A c.1616G>A (p.Ser539Asn) c.1661G>A (p.Ser554Asn) n.1996G>A c.1658G>A (p.Ser553Asn) c.1583G>A (p.Ser528Asn) c.1580G>A (p.Ser527Asn) c.1568G>A (p.Ser523Asn) | |
11 | g.22262159G>C | CA379922536 | ANO5 | c.1211G>C (p.Ser404Thr) c.1619G>C (p.Ser540Thr) n.2655G>C c.1616G>C (p.Ser539Thr) c.1661G>C (p.Ser554Thr) n.1996G>C c.1658G>C (p.Ser553Thr) c.1583G>C (p.Ser528Thr) c.1580G>C (p.Ser527Thr) c.1568G>C (p.Ser523Thr) | |
11 | g.22262159G>T | CA379922537 | ANO5 | c.1211G>T (p.Ser404Ile) c.1619G>T (p.Ser540Ile) n.2655G>T c.1616G>T (p.Ser539Ile) c.1661G>T (p.Ser554Ile) n.1996G>T c.1658G>T (p.Ser553Ile) c.1583G>T (p.Ser528Ile) c.1580G>T (p.Ser527Ile) c.1568G>T (p.Ser523Ile) | |
11 | g.22262160C>A | CA379922538 | ANO5 | c.1212C>A (p.Ser404Arg) c.1620C>A (p.Ser540Arg) n.2656C>A c.1617C>A (p.Ser539Arg) c.1662C>A (p.Ser554Arg) n.1997C>A c.1659C>A (p.Ser553Arg) c.1584C>A (p.Ser528Arg) c.1581C>A (p.Ser527Arg) c.1569C>A (p.Ser523Arg) | |
11 | g.22262160C>G | CA379922539 | ANO5 | c.1212C>G (p.Ser404Arg) c.1620C>G (p.Ser540Arg) n.2656C>G c.1617C>G (p.Ser539Arg) c.1662C>G (p.Ser554Arg) n.1997C>G c.1659C>G (p.Ser553Arg) c.1584C>G (p.Ser528Arg) c.1581C>G (p.Ser527Arg) c.1569C>G (p.Ser523Arg) | |
11 | g.22262160C>T | CA473407226 | ANO5 | c.1212C>T (p.Ser404=) c.1620C>T (p.Ser540=) n.2656C>T c.1617C>T (p.Ser539=) c.1662C>T (p.Ser554=) n.1997C>T c.1659C>T (p.Ser553=) c.1584C>T (p.Ser528=) c.1581C>T (p.Ser527=) c.1569C>T (p.Ser523=) | |
11 | g.22262161A>C | CA379922540 | ANO5 | c.1213A>C (p.Ser405Arg) c.1621A>C (p.Ser541Arg) n.2657A>C c.1618A>C (p.Ser540Arg) c.1663A>C (p.Ser555Arg) n.1998A>C c.1660A>C (p.Ser554Arg) c.1585A>C (p.Ser529Arg) c.1582A>C (p.Ser528Arg) c.1570A>C (p.Ser524Arg) | |
11 | g.22262161A>G | CA379922541 | ANO5 | c.1213A>G (p.Ser405Gly) c.1621A>G (p.Ser541Gly) n.2657A>G c.1618A>G (p.Ser540Gly) c.1663A>G (p.Ser555Gly) n.1998A>G c.1660A>G (p.Ser554Gly) c.1585A>G (p.Ser529Gly) c.1582A>G (p.Ser528Gly) c.1570A>G (p.Ser524Gly) | |
11 | g.22262161A>T | CA379922542 | ANO5 | c.1213A>T (p.Ser405Cys) c.1621A>T (p.Ser541Cys) n.2657A>T c.1618A>T (p.Ser540Cys) c.1663A>T (p.Ser555Cys) n.1998A>T c.1660A>T (p.Ser554Cys) c.1585A>T (p.Ser529Cys) c.1582A>T (p.Ser528Cys) c.1570A>T (p.Ser524Cys) | |
11 | g.22262162G>A | CA5923319 | ANO5 | c.1214G>A (p.Ser405Asn) c.1622G>A (p.Ser541Asn) n.2658G>A c.1619G>A (p.Ser540Asn) c.1664G>A (p.Ser555Asn) n.1999G>A c.1661G>A (p.Ser554Asn) c.1586G>A (p.Ser529Asn) c.1583G>A (p.Ser528Asn) c.1571G>A (p.Ser524Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.22262162G>C | CA379922543 | ANO5 | c.1214G>C (p.Ser405Thr) c.1622G>C (p.Ser541Thr) n.2658G>C c.1619G>C (p.Ser540Thr) c.1664G>C (p.Ser555Thr) n.1999G>C c.1661G>C (p.Ser554Thr) c.1586G>C (p.Ser529Thr) c.1583G>C (p.Ser528Thr) c.1571G>C (p.Ser524Thr) | |
11 | g.22262162G= | CA1957419818 | ANO5 | c.1214G= (p.Ser405=) c.1622G= (p.Ser541=) n.2658G= c.1619G= (p.Ser540=) c.1664G= (p.Ser555=) n.1999G= c.1661G= (p.Ser554=) c.1586G= (p.Ser529=) c.1583G= (p.Ser528=) c.1571G= (p.Ser524=) | |
11 | g.22262162G>T | CA5923318 | ANO5 | c.1214G>T (p.Ser405Ile) c.1622G>T (p.Ser541Ile) n.2658G>T c.1619G>T (p.Ser540Ile) c.1664G>T (p.Ser555Ile) n.1999G>T c.1661G>T (p.Ser554Ile) c.1586G>T (p.Ser529Ile) c.1583G>T (p.Ser528Ile) c.1571G>T (p.Ser524Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262163T>A | CA379922545 | ANO5 | c.1215T>A (p.Ser405Arg) c.1623T>A (p.Ser541Arg) n.2659T>A c.1620T>A (p.Ser540Arg) c.1665T>A (p.Ser555Arg) n.2000T>A c.1662T>A (p.Ser554Arg) c.1587T>A (p.Ser529Arg) c.1584T>A (p.Ser528Arg) c.1572T>A (p.Ser524Arg) | ClinVar dbSNP |
11 | g.22262163T>C | CA473407227 | ANO5 | c.1215T>C (p.Ser405=) c.1623T>C (p.Ser541=) n.2659T>C c.1620T>C (p.Ser540=) c.1665T>C (p.Ser555=) n.2000T>C c.1662T>C (p.Ser554=) c.1587T>C (p.Ser529=) c.1584T>C (p.Ser528=) c.1572T>C (p.Ser524=) | |
11 | g.22262163T>G | CA379922544 | ANO5 | c.1215T>G (p.Ser405Arg) c.1623T>G (p.Ser541Arg) n.2659T>G c.1620T>G (p.Ser540Arg) c.1665T>G (p.Ser555Arg) n.2000T>G c.1662T>G (p.Ser554Arg) c.1587T>G (p.Ser529Arg) c.1584T>G (p.Ser528Arg) c.1572T>G (p.Ser524Arg) | |
11 | g.22262163T= | CA1957419819 | ANO5 | c.1215T= (p.Ser405=) c.1623T= (p.Ser541=) n.2659T= c.1620T= (p.Ser540=) c.1665T= (p.Ser555=) n.2000T= c.1662T= (p.Ser554=) c.1587T= (p.Ser529=) c.1584T= (p.Ser528=) c.1572T= (p.Ser524=) | |
11 | g.22262164C>A | CA379922546 | ANO5 | c.1216C>A (p.Leu406Ile) c.1624C>A (p.Leu542Ile) n.2660C>A c.1621C>A (p.Leu541Ile) c.1666C>A (p.Leu556Ile) n.2001C>A c.1663C>A (p.Leu555Ile) c.1588C>A (p.Leu530Ile) c.1585C>A (p.Leu529Ile) c.1573C>A (p.Leu525Ile) | |
11 | g.22262164C>G | CA379922548 | ANO5 | c.1216C>G (p.Leu406Val) c.1624C>G (p.Leu542Val) n.2660C>G c.1621C>G (p.Leu541Val) c.1666C>G (p.Leu556Val) n.2001C>G c.1663C>G (p.Leu555Val) c.1588C>G (p.Leu530Val) c.1585C>G (p.Leu529Val) c.1573C>G (p.Leu525Val) | |
11 | g.22262164C>T | CA379922547 | ANO5 | c.1216C>T (p.Leu406Phe) c.1624C>T (p.Leu542Phe) n.2660C>T c.1621C>T (p.Leu541Phe) c.1666C>T (p.Leu556Phe) n.2001C>T c.1663C>T (p.Leu555Phe) c.1588C>T (p.Leu530Phe) c.1585C>T (p.Leu529Phe) c.1573C>T (p.Leu525Phe) | |
11 | g.22262165T>A | CA379922549 | ANO5 | c.1217T>A (p.Leu406His) c.1625T>A (p.Leu542His) n.2661T>A c.1622T>A (p.Leu541His) c.1667T>A (p.Leu556His) n.2002T>A c.1664T>A (p.Leu555His) c.1589T>A (p.Leu530His) c.1586T>A (p.Leu529His) c.1574T>A (p.Leu525His) | |
11 | g.22262165T>C | CA379922550 | ANO5 | c.1217T>C (p.Leu406Pro) c.1625T>C (p.Leu542Pro) n.2661T>C c.1622T>C (p.Leu541Pro) c.1667T>C (p.Leu556Pro) n.2002T>C c.1664T>C (p.Leu555Pro) c.1589T>C (p.Leu530Pro) c.1586T>C (p.Leu529Pro) c.1574T>C (p.Leu525Pro) | |
11 | g.22262165T>G | CA379922551 | ANO5 | c.1217T>G (p.Leu406Arg) c.1625T>G (p.Leu542Arg) n.2661T>G c.1622T>G (p.Leu541Arg) c.1667T>G (p.Leu556Arg) n.2002T>G c.1664T>G (p.Leu555Arg) c.1589T>G (p.Leu530Arg) c.1586T>G (p.Leu529Arg) c.1574T>G (p.Leu525Arg) | |
11 | g.22262166T>A | CA473407229 | ANO5 | c.1218T>A (p.Leu406=) c.1626T>A (p.Leu542=) n.2662T>A c.1623T>A (p.Leu541=) c.1668T>A (p.Leu556=) n.2003T>A c.1665T>A (p.Leu555=) c.1590T>A (p.Leu530=) c.1587T>A (p.Leu529=) c.1575T>A (p.Leu525=) | |
11 | g.22262166T>C | CA5923320 | ANO5 | c.1218T>C (p.Leu406=) c.1626T>C (p.Leu542=) n.2662T>C c.1623T>C (p.Leu541=) c.1668T>C (p.Leu556=) n.2003T>C c.1665T>C (p.Leu555=) c.1590T>C (p.Leu530=) c.1587T>C (p.Leu529=) c.1575T>C (p.Leu525=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22262166T>G | CA473407228 | ANO5 | c.1218T>G (p.Leu406=) c.1626T>G (p.Leu542=) n.2662T>G c.1623T>G (p.Leu541=) c.1668T>G (p.Leu556=) n.2003T>G c.1665T>G (p.Leu555=) c.1590T>G (p.Leu530=) c.1587T>G (p.Leu529=) c.1575T>G (p.Leu525=) | |
11 | g.22262166T= | CA1957419820 | ANO5 | c.1218T= (p.Leu406=) c.1626T= (p.Leu542=) n.2662T= c.1623T= (p.Leu541=) c.1668T= (p.Leu556=) n.2003T= c.1665T= (p.Leu555=) c.1590T= (p.Leu530=) c.1587T= (p.Leu529=) c.1575T= (p.Leu525=) | |
11 | g.22262167A= | CA1957419821 | ANO5 | c.1219A= (p.Thr407=) c.1627A= (p.Thr543=) n.2663A= c.1624A= (p.Thr542=) c.1669A= (p.Thr557=) n.2004A= c.1666A= (p.Thr556=) c.1591A= (p.Thr531=) c.1588A= (p.Thr530=) c.1576A= (p.Thr526=) | |
11 | g.22262167A>C | CA379922552 | ANO5 | c.1219A>C (p.Thr407Pro) c.1627A>C (p.Thr543Pro) n.2663A>C c.1624A>C (p.Thr542Pro) c.1669A>C (p.Thr557Pro) n.2004A>C c.1666A>C (p.Thr556Pro) c.1591A>C (p.Thr531Pro) c.1588A>C (p.Thr530Pro) c.1576A>C (p.Thr526Pro) | |
11 | g.22262167A>G | CA379922553 | ANO5 | c.1219A>G (p.Thr407Ala) c.1627A>G (p.Thr543Ala) n.2663A>G c.1624A>G (p.Thr542Ala) c.1669A>G (p.Thr557Ala) n.2004A>G c.1666A>G (p.Thr556Ala) c.1591A>G (p.Thr531Ala) c.1588A>G (p.Thr530Ala) c.1576A>G (p.Thr526Ala) | dbSNP |
11 | g.22262167A>T | CA379922554 | ANO5 | c.1219A>T (p.Thr407Ser) c.1627A>T (p.Thr543Ser) n.2663A>T c.1624A>T (p.Thr542Ser) c.1669A>T (p.Thr557Ser) n.2004A>T c.1666A>T (p.Thr556Ser) c.1591A>T (p.Thr531Ser) c.1588A>T (p.Thr530Ser) c.1576A>T (p.Thr526Ser) | |
11 | g.22262168C>A | CA379922555 | ANO5 | c.1220C>A (p.Thr407Asn) c.1628C>A (p.Thr543Asn) n.2664C>A c.1625C>A (p.Thr542Asn) c.1670C>A (p.Thr557Asn) n.2005C>A c.1667C>A (p.Thr556Asn) c.1592C>A (p.Thr531Asn) c.1589C>A (p.Thr530Asn) c.1577C>A (p.Thr526Asn) | gnomAD v4 |
11 | g.22262168C= | CA1957419822 | ANO5 | c.1220C= (p.Thr407=) c.1628C= (p.Thr543=) n.2664C= c.1625C= (p.Thr542=) c.1670C= (p.Thr557=) n.2005C= c.1667C= (p.Thr556=) c.1592C= (p.Thr531=) c.1589C= (p.Thr530=) c.1577C= (p.Thr526=) | |
11 | g.22262168C>G | CA379922556 | ANO5 | c.1220C>G (p.Thr407Ser) c.1628C>G (p.Thr543Ser) n.2664C>G c.1625C>G (p.Thr542Ser) c.1670C>G (p.Thr557Ser) n.2005C>G c.1667C>G (p.Thr556Ser) c.1592C>G (p.Thr531Ser) c.1589C>G (p.Thr530Ser) c.1577C>G (p.Thr526Ser) | |
11 | g.22262168C>T | CA379922557 | ANO5 | c.1220C>T (p.Thr407Ile) c.1628C>T (p.Thr543Ile) n.2664C>T c.1625C>T (p.Thr542Ile) c.1670C>T (p.Thr557Ile) n.2005C>T c.1667C>T (p.Thr556Ile) c.1592C>T (p.Thr531Ile) c.1589C>T (p.Thr530Ile) c.1577C>T (p.Thr526Ile) | dbSNP gnomAD v4 |
11 | g.22262169C>A | CA473407230 | ANO5 | c.1221C>A (p.Thr407=) c.1629C>A (p.Thr543=) n.2665C>A c.1626C>A (p.Thr542=) c.1671C>A (p.Thr557=) n.2006C>A c.1668C>A (p.Thr556=) c.1593C>A (p.Thr531=) c.1590C>A (p.Thr530=) c.1578C>A (p.Thr526=) | |
11 | g.22262169C= | CA1957419823 | ANO5 | c.1221C= (p.Thr407=) c.1629C= (p.Thr543=) n.2665C= c.1626C= (p.Thr542=) c.1671C= (p.Thr557=) n.2006C= c.1668C= (p.Thr556=) c.1593C= (p.Thr531=) c.1590C= (p.Thr530=) c.1578C= (p.Thr526=) | |
11 | g.22262169C>G | CA473407231 | ANO5 | c.1221C>G (p.Thr407=) c.1629C>G (p.Thr543=) n.2665C>G c.1626C>G (p.Thr542=) c.1671C>G (p.Thr557=) n.2006C>G c.1668C>G (p.Thr556=) c.1593C>G (p.Thr531=) c.1590C>G (p.Thr530=) c.1578C>G (p.Thr526=) | |
11 | g.22262169C>T | CA218767948 | ANO5 | c.1221C>T (p.Thr407=) c.1629C>T (p.Thr543=) n.2665C>T c.1626C>T (p.Thr542=) c.1671C>T (p.Thr557=) n.2006C>T c.1668C>T (p.Thr556=) c.1593C>T (p.Thr531=) c.1590C>T (p.Thr530=) c.1578C>T (p.Thr526=) | ClinVar dbSNP gnomAD v4 |
11 | g.22262170T>A | CA379922558 | ANO5 | c.1222T>A (p.Leu408Met) c.1630T>A (p.Leu544Met) n.2666T>A c.1627T>A (p.Leu543Met) c.1672T>A (p.Leu558Met) n.2007T>A c.1669T>A (p.Leu557Met) c.1594T>A (p.Leu532Met) c.1591T>A (p.Leu531Met) c.1579T>A (p.Leu527Met) | |
11 | g.22262170T>C | CA473407232 | ANO5 | c.1222T>C (p.Leu408=) c.1630T>C (p.Leu544=) n.2666T>C c.1627T>C (p.Leu543=) c.1672T>C (p.Leu558=) n.2007T>C c.1669T>C (p.Leu557=) c.1594T>C (p.Leu532=) c.1591T>C (p.Leu531=) c.1579T>C (p.Leu527=) | |
11 | g.22262170T>G | CA379922559 | ANO5 | c.1222T>G (p.Leu408Val) c.1630T>G (p.Leu544Val) n.2666T>G c.1627T>G (p.Leu543Val) c.1672T>G (p.Leu558Val) n.2007T>G c.1669T>G (p.Leu557Val) c.1594T>G (p.Leu532Val) c.1591T>G (p.Leu531Val) c.1579T>G (p.Leu527Val) | |
11 | g.22262171T>A | CA379922562 | ANO5 | c.1223T>A (p.Leu408Ter) c.1631T>A (p.Leu544Ter) n.2667T>A c.1628T>A (p.Leu543Ter) c.1673T>A (p.Leu558Ter) n.2008T>A c.1670T>A (p.Leu557Ter) c.1595T>A (p.Leu532Ter) c.1592T>A (p.Leu531Ter) c.1580T>A (p.Leu527Ter) | |
11 | g.22262171T>C | CA379922560 | ANO5 | c.1223T>C (p.Leu408Ser) c.1631T>C (p.Leu544Ser) n.2667T>C c.1628T>C (p.Leu543Ser) c.1673T>C (p.Leu558Ser) n.2008T>C c.1670T>C (p.Leu557Ser) c.1595T>C (p.Leu532Ser) c.1592T>C (p.Leu531Ser) c.1580T>C (p.Leu527Ser) | |
11 | g.22262171T>G | CA379922561 | ANO5 | c.1223T>G (p.Leu408Trp) c.1631T>G (p.Leu544Trp) n.2667T>G c.1628T>G (p.Leu543Trp) c.1673T>G (p.Leu558Trp) n.2008T>G c.1670T>G (p.Leu557Trp) c.1595T>G (p.Leu532Trp) c.1592T>G (p.Leu531Trp) c.1580T>G (p.Leu527Trp) | |
11 | g.22262172G>A | CA5923321 | ANO5 | c.1224G>A (p.Leu408=) c.1632G>A (p.Leu544=) n.2668G>A c.1629G>A (p.Leu543=) c.1674G>A (p.Leu558=) n.2009G>A c.1671G>A (p.Leu557=) c.1596G>A (p.Leu532=) c.1593G>A (p.Leu531=) c.1581G>A (p.Leu527=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22262172G>C | CA379922563 | ANO5 | c.1224G>C (p.Leu408Phe) c.1632G>C (p.Leu544Phe) n.2668G>C c.1629G>C (p.Leu543Phe) c.1674G>C (p.Leu558Phe) n.2009G>C c.1671G>C (p.Leu557Phe) c.1596G>C (p.Leu532Phe) c.1593G>C (p.Leu531Phe) c.1581G>C (p.Leu527Phe) | |
11 | g.22262172G= | CA1957419824 | ANO5 | c.1224G= (p.Leu408=) c.1632G= (p.Leu544=) n.2668G= c.1629G= (p.Leu543=) c.1674G= (p.Leu558=) n.2009G= c.1671G= (p.Leu557=) c.1596G= (p.Leu532=) c.1593G= (p.Leu531=) c.1581G= (p.Leu527=) | |
11 | g.22262172G>T | CA379922564 | ANO5 | c.1224G>T (p.Leu408Phe) c.1632G>T (p.Leu544Phe) n.2668G>T c.1629G>T (p.Leu543Phe) c.1674G>T (p.Leu558Phe) n.2009G>T c.1671G>T (p.Leu557Phe) c.1596G>T (p.Leu532Phe) c.1593G>T (p.Leu531Phe) c.1581G>T (p.Leu527Phe) | |
11 | g.22262173A>C | CA379922565 | ANO5 | c.1225A>C (p.Lys409Gln) c.1633A>C (p.Lys545Gln) n.2669A>C c.1630A>C (p.Lys544Gln) c.1675A>C (p.Lys559Gln) n.2010A>C c.1672A>C (p.Lys558Gln) c.1597A>C (p.Lys533Gln) c.1594A>C (p.Lys532Gln) c.1582A>C (p.Lys528Gln) | |
11 | g.22262173A>G | CA379922566 | ANO5 | c.1225A>G (p.Lys409Glu) c.1633A>G (p.Lys545Glu) n.2669A>G c.1630A>G (p.Lys544Glu) c.1675A>G (p.Lys559Glu) n.2010A>G c.1672A>G (p.Lys558Glu) c.1597A>G (p.Lys533Glu) c.1594A>G (p.Lys532Glu) c.1582A>G (p.Lys528Glu) | |
11 | g.22262173A>T | CA379922567 | ANO5 | c.1225A>T (p.Lys409Ter) c.1633A>T (p.Lys545Ter) n.2669A>T c.1630A>T (p.Lys544Ter) c.1675A>T (p.Lys559Ter) n.2010A>T c.1672A>T (p.Lys558Ter) c.1597A>T (p.Lys533Ter) c.1594A>T (p.Lys532Ter) c.1582A>T (p.Lys528Ter) | |
11 | g.22262174A>C | CA379922568 | ANO5 | c.1226A>C (p.Lys409Thr) c.1634A>C (p.Lys545Thr) n.2670A>C c.1631A>C (p.Lys544Thr) c.1676A>C (p.Lys559Thr) n.2011A>C c.1673A>C (p.Lys558Thr) c.1598A>C (p.Lys533Thr) c.1595A>C (p.Lys532Thr) c.1583A>C (p.Lys528Thr) | |
11 | g.22262174A>G | CA379922569 | ANO5 | c.1226A>G (p.Lys409Arg) c.1634A>G (p.Lys545Arg) n.2670A>G c.1631A>G (p.Lys544Arg) c.1676A>G (p.Lys559Arg) n.2011A>G c.1673A>G (p.Lys558Arg) c.1598A>G (p.Lys533Arg) c.1595A>G (p.Lys532Arg) c.1583A>G (p.Lys528Arg) | |
11 | g.22262174A>T | CA379922570 | ANO5 | c.1226A>T (p.Lys409Ile) c.1634A>T (p.Lys545Ile) n.2670A>T c.1631A>T (p.Lys544Ile) c.1676A>T (p.Lys559Ile) n.2011A>T c.1673A>T (p.Lys558Ile) c.1598A>T (p.Lys533Ile) c.1595A>T (p.Lys532Ile) c.1583A>T (p.Lys528Ile) | |
11 | g.22262175A= | CA1957419825 | ANO5 | c.1227A= (p.Lys409=) c.1635A= (p.Lys545=) n.2671A= c.1632A= (p.Lys544=) c.1677A= (p.Lys559=) n.2012A= c.1674A= (p.Lys558=) c.1599A= (p.Lys533=) c.1596A= (p.Lys532=) c.1584A= (p.Lys528=) | |
11 | g.22262175A>C | CA379922571 | ANO5 | c.1227A>C (p.Lys409Asn) c.1635A>C (p.Lys545Asn) n.2671A>C c.1632A>C (p.Lys544Asn) c.1677A>C (p.Lys559Asn) n.2012A>C c.1674A>C (p.Lys558Asn) c.1599A>C (p.Lys533Asn) c.1596A>C (p.Lys532Asn) c.1584A>C (p.Lys528Asn) | ClinVar dbSNP |
11 | g.22262175A>G | CA473407233 | ANO5 | c.1227A>G (p.Lys409=) c.1635A>G (p.Lys545=) n.2671A>G c.1632A>G (p.Lys544=) c.1677A>G (p.Lys559=) n.2012A>G c.1674A>G (p.Lys558=) c.1599A>G (p.Lys533=) c.1596A>G (p.Lys532=) c.1584A>G (p.Lys528=) | |
11 | g.22262175A>T | CA379922572 | ANO5 | c.1227A>T (p.Lys409Asn) c.1635A>T (p.Lys545Asn) n.2671A>T c.1632A>T (p.Lys544Asn) c.1677A>T (p.Lys559Asn) n.2012A>T c.1674A>T (p.Lys558Asn) c.1599A>T (p.Lys533Asn) c.1596A>T (p.Lys532Asn) c.1584A>T (p.Lys528Asn) | gnomAD v4 |
11 | g.22262176A>C | CA379922574 | ANO5 | c.1228A>C (p.Met410Leu) c.1636A>C (p.Met546Leu) n.2672A>C c.1633A>C (p.Met545Leu) c.1678A>C (p.Met560Leu) n.2013A>C c.1675A>C (p.Met559Leu) c.1600A>C (p.Met534Leu) c.1597A>C (p.Met533Leu) c.1585A>C (p.Met529Leu) | |
11 | g.22262176A>G | CA379922575 | ANO5 | c.1228A>G (p.Met410Val) c.1636A>G (p.Met546Val) n.2672A>G c.1633A>G (p.Met545Val) c.1678A>G (p.Met560Val) n.2013A>G c.1675A>G (p.Met559Val) c.1600A>G (p.Met534Val) c.1597A>G (p.Met533Val) c.1585A>G (p.Met529Val) | |
11 | g.22262176A>T | CA379922573 | ANO5 | c.1228A>T (p.Met410Leu) c.1636A>T (p.Met546Leu) n.2672A>T c.1633A>T (p.Met545Leu) c.1678A>T (p.Met560Leu) n.2013A>T c.1675A>T (p.Met559Leu) c.1600A>T (p.Met534Leu) c.1597A>T (p.Met533Leu) c.1585A>T (p.Met529Leu) | |
11 | g.22262177T>A | CA379922576 | ANO5 | c.1229T>A (p.Met410Lys) c.1637T>A (p.Met546Lys) n.2673T>A c.1634T>A (p.Met545Lys) c.1679T>A (p.Met560Lys) n.2014T>A c.1676T>A (p.Met559Lys) c.1601T>A (p.Met534Lys) c.1598T>A (p.Met533Lys) c.1586T>A (p.Met529Lys) | |
11 | g.22262177T>C | CA379922577 | ANO5 | c.1229T>C (p.Met410Thr) c.1637T>C (p.Met546Thr) n.2673T>C c.1634T>C (p.Met545Thr) c.1679T>C (p.Met560Thr) n.2014T>C c.1676T>C (p.Met559Thr) c.1601T>C (p.Met534Thr) c.1598T>C (p.Met533Thr) c.1586T>C (p.Met529Thr) | |
11 | g.22262177T>G | CA379922578 | ANO5 | c.1229T>G (p.Met410Arg) c.1637T>G (p.Met546Arg) n.2673T>G c.1634T>G (p.Met545Arg) c.1679T>G (p.Met560Arg) n.2014T>G c.1676T>G (p.Met559Arg) c.1601T>G (p.Met534Arg) c.1598T>G (p.Met533Arg) c.1586T>G (p.Met529Arg) | |
11 | g.22262178del | CA2580082878 | ANO5 | c.1230del (p.Met410IlefsTer7) c.1638del (p.Met546IlefsTer7) n.2674del c.1635del (p.Met545IlefsTer7) c.1680del (p.Met560IlefsTer7) n.2015del c.1677del (p.Met559IlefsTer7) c.1602del (p.Met534IlefsTer7) c.1599del (p.Met533IlefsTer7) c.1587del (p.Met529IlefsTer7) | ClinVar |
11 | g.22262178G>A | CA379922579 | ANO5 | c.1230G>A (p.Met410Ile) c.1638G>A (p.Met546Ile) n.2674G>A c.1635G>A (p.Met545Ile) c.1680G>A (p.Met560Ile) n.2015G>A c.1677G>A (p.Met559Ile) c.1602G>A (p.Met534Ile) c.1599G>A (p.Met533Ile) c.1587G>A (p.Met529Ile) | gnomAD v4 |
11 | g.22262178G>C | CA379922580 | ANO5 | c.1230G>C (p.Met410Ile) c.1638G>C (p.Met546Ile) n.2674G>C c.1635G>C (p.Met545Ile) c.1680G>C (p.Met560Ile) n.2015G>C c.1677G>C (p.Met559Ile) c.1602G>C (p.Met534Ile) c.1599G>C (p.Met533Ile) c.1587G>C (p.Met529Ile) | |
11 | g.22262178G>T | CA379922581 | ANO5 | c.1230G>T (p.Met410Ile) c.1638G>T (p.Met546Ile) n.2674G>T c.1635G>T (p.Met545Ile) c.1680G>T (p.Met560Ile) n.2015G>T c.1677G>T (p.Met559Ile) c.1602G>T (p.Met534Ile) c.1599G>T (p.Met533Ile) c.1587G>T (p.Met529Ile) | |
11 | g.22262179T>A | CA379922582 | ANO5 | c.1231T>A (p.Phe411Ile) c.1639T>A (p.Phe547Ile) n.2675T>A c.1636T>A (p.Phe546Ile) c.1681T>A (p.Phe561Ile) n.2016T>A c.1678T>A (p.Phe560Ile) c.1603T>A (p.Phe535Ile) c.1600T>A (p.Phe534Ile) c.1588T>A (p.Phe530Ile) | |
11 | g.22262179T>C | CA379922583 | ANO5 | c.1231T>C (p.Phe411Leu) c.1639T>C (p.Phe547Leu) n.2675T>C c.1636T>C (p.Phe546Leu) c.1681T>C (p.Phe561Leu) n.2016T>C c.1678T>C (p.Phe560Leu) c.1603T>C (p.Phe535Leu) c.1600T>C (p.Phe534Leu) c.1588T>C (p.Phe530Leu) | |
11 | g.22262179T>G | CA379922584 | ANO5 | c.1231T>G (p.Phe411Val) c.1639T>G (p.Phe547Val) n.2675T>G c.1636T>G (p.Phe546Val) c.1681T>G (p.Phe561Val) n.2016T>G c.1678T>G (p.Phe560Val) c.1603T>G (p.Phe535Val) c.1600T>G (p.Phe534Val) c.1588T>G (p.Phe530Val) | |
11 | g.22262180T>A | CA379922585 | ANO5 | c.1232T>A (p.Phe411Tyr) c.1640T>A (p.Phe547Tyr) n.2676T>A c.1637T>A (p.Phe546Tyr) c.1682T>A (p.Phe561Tyr) n.2017T>A c.1679T>A (p.Phe560Tyr) c.1604T>A (p.Phe535Tyr) c.1601T>A (p.Phe534Tyr) c.1589T>A (p.Phe530Tyr) | gnomAD v4 |
11 | g.22262180T>C | CA379922586 | ANO5 | c.1232T>C (p.Phe411Ser) c.1640T>C (p.Phe547Ser) n.2676T>C c.1637T>C (p.Phe546Ser) c.1682T>C (p.Phe561Ser) n.2017T>C c.1679T>C (p.Phe560Ser) c.1604T>C (p.Phe535Ser) c.1601T>C (p.Phe534Ser) c.1589T>C (p.Phe530Ser) | |
11 | g.22262180T>G | CA379922587 | ANO5 | c.1232T>G (p.Phe411Cys) c.1640T>G (p.Phe547Cys) n.2676T>G c.1637T>G (p.Phe546Cys) c.1682T>G (p.Phe561Cys) n.2017T>G c.1679T>G (p.Phe560Cys) c.1604T>G (p.Phe535Cys) c.1601T>G (p.Phe534Cys) c.1589T>G (p.Phe530Cys) | |
11 | g.22262181C>A | CA379922588 | ANO5 | c.1233C>A (p.Phe411Leu) c.1641C>A (p.Phe547Leu) n.2677C>A c.1638C>A (p.Phe546Leu) c.1683C>A (p.Phe561Leu) n.2018C>A c.1680C>A (p.Phe560Leu) c.1605C>A (p.Phe535Leu) c.1602C>A (p.Phe534Leu) c.1590C>A (p.Phe530Leu) | gnomAD v4 |
11 | g.22262181C>G | CA379922589 | ANO5 | c.1233C>G (p.Phe411Leu) c.1641C>G (p.Phe547Leu) n.2677C>G c.1638C>G (p.Phe546Leu) c.1683C>G (p.Phe561Leu) n.2018C>G c.1680C>G (p.Phe560Leu) c.1605C>G (p.Phe535Leu) c.1602C>G (p.Phe534Leu) c.1590C>G (p.Phe530Leu) | |
11 | g.22262181C>T | CA473407234 | ANO5 | c.1233C>T (p.Phe411=) c.1641C>T (p.Phe547=) n.2677C>T c.1638C>T (p.Phe546=) c.1683C>T (p.Phe561=) n.2018C>T c.1680C>T (p.Phe560=) c.1605C>T (p.Phe535=) c.1602C>T (p.Phe534=) c.1590C>T (p.Phe530=) | gnomAD v4 COSMIC |
11 | g.22262181_22262183delinsCCT | CA1957419826 | ANO5 | c.1233_1235delinsCCT (p.Phe411=) c.1641_1643delinsCCT (p.Phe547=) n.2677_2679delinsCCT c.1638_1640delinsCCT (p.Phe546=) c.1683_1685delinsCCT (p.Phe561=) n.2018_2020delinsCCT c.1680_1682delinsCCT (p.Phe560=) c.1605_1607delinsCCT (p.Phe535=) c.1602_1604delinsCCT (p.Phe534=) c.1590_1592delinsCCT (p.Phe530=) | |
11 | g.22262182C>A | CA379922590 | ANO5 | c.1234C>A (p.Leu412Met) c.1642C>A (p.Leu548Met) n.2678C>A c.1639C>A (p.Leu547Met) c.1684C>A (p.Leu562Met) n.2019C>A c.1681C>A (p.Leu561Met) c.1606C>A (p.Leu536Met) c.1603C>A (p.Leu535Met) c.1591C>A (p.Leu531Met) | |
11 | g.22262182C= | CA1957419827 | ANO5 | c.1234C= (p.Leu412=) c.1642C= (p.Leu548=) n.2678C= c.1639C= (p.Leu547=) c.1684C= (p.Leu562=) n.2019C= c.1681C= (p.Leu561=) c.1606C= (p.Leu536=) c.1603C= (p.Leu535=) c.1591C= (p.Leu531=) | |
11 | g.22262182C>G | CA379922591 | ANO5 | c.1234C>G (p.Leu412Val) c.1642C>G (p.Leu548Val) n.2678C>G c.1639C>G (p.Leu547Val) c.1684C>G (p.Leu562Val) n.2019C>G c.1681C>G (p.Leu561Val) c.1606C>G (p.Leu536Val) c.1603C>G (p.Leu535Val) c.1591C>G (p.Leu531Val) | dbSNP gnomAD v4 |
11 | g.22262182C>T | CA473407235 | ANO5 | c.1234C>T (p.Leu412=) c.1642C>T (p.Leu548=) n.2678C>T c.1639C>T (p.Leu547=) c.1684C>T (p.Leu562=) n.2019C>T c.1681C>T (p.Leu561=) c.1606C>T (p.Leu536=) c.1603C>T (p.Leu535=) c.1591C>T (p.Leu531=) | COSMIC |
11 | g.22262182_22262183del | CA598389566 | ANO5 | c.1234_1235del (p.Leu412ValfsTer17) c.1642_1643del (p.Leu548ValfsTer17) n.2678_2679del c.1639_1640del (p.Leu547ValfsTer17) c.1684_1685del (p.Leu562ValfsTer17) n.2019_2020del c.1681_1682del (p.Leu561ValfsTer17) c.1606_1607del (p.Leu536ValfsTer17) c.1603_1604del (p.Leu535ValfsTer17) c.1591_1592del (p.Leu531ValfsTer17) | dbSNP gnomAD v2 |
11 | g.22262183T>A | CA379922592 | ANO5 | c.1235T>A (p.Leu412Gln) c.1643T>A (p.Leu548Gln) n.2679T>A c.1640T>A (p.Leu547Gln) c.1685T>A (p.Leu562Gln) n.2020T>A c.1682T>A (p.Leu561Gln) c.1607T>A (p.Leu536Gln) c.1604T>A (p.Leu535Gln) c.1592T>A (p.Leu531Gln) | |
11 | g.22262183T>C | CA5923322 | ANO5 | c.1235T>C (p.Leu412Pro) c.1643T>C (p.Leu548Pro) n.2679T>C c.1640T>C (p.Leu547Pro) c.1685T>C (p.Leu562Pro) n.2020T>C c.1682T>C (p.Leu561Pro) c.1607T>C (p.Leu536Pro) c.1604T>C (p.Leu535Pro) c.1592T>C (p.Leu531Pro) | ClinVar dbSNP ExAC |
11 | g.22262183T>G | CA379922593 | ANO5 | c.1235T>G (p.Leu412Arg) c.1643T>G (p.Leu548Arg) n.2679T>G c.1640T>G (p.Leu547Arg) c.1685T>G (p.Leu562Arg) n.2020T>G c.1682T>G (p.Leu561Arg) c.1607T>G (p.Leu536Arg) c.1604T>G (p.Leu535Arg) c.1592T>G (p.Leu531Arg) | |
11 | g.22262183T= | CA1957419828 | ANO5 | c.1235T= (p.Leu412=) c.1643T= (p.Leu548=) n.2679T= c.1640T= (p.Leu547=) c.1685T= (p.Leu562=) n.2020T= c.1682T= (p.Leu561=) c.1607T= (p.Leu536=) c.1604T= (p.Leu535=) c.1592T= (p.Leu531=) | |
11 | g.22262184G>A | CA218767956 | ANO5 | c.1236G>A (p.Leu412=) c.1644G>A (p.Leu548=) n.2680G>A c.1641G>A (p.Leu547=) c.1686G>A (p.Leu562=) n.2021G>A c.1683G>A (p.Leu561=) c.1608G>A (p.Leu536=) c.1605G>A (p.Leu535=) c.1593G>A (p.Leu531=) | dbSNP |
11 | g.22262184G>C | CA473407236 | ANO5 | c.1236G>C (p.Leu412=) c.1644G>C (p.Leu548=) n.2680G>C c.1641G>C (p.Leu547=) c.1686G>C (p.Leu562=) n.2021G>C c.1683G>C (p.Leu561=) c.1608G>C (p.Leu536=) c.1605G>C (p.Leu535=) c.1593G>C (p.Leu531=) | |
11 | g.22262184G= | CA1957419829 | ANO5 | c.1236G= (p.Leu412=) c.1644G= (p.Leu548=) n.2680G= c.1641G= (p.Leu547=) c.1686G= (p.Leu562=) n.2021G= c.1683G= (p.Leu561=) c.1608G= (p.Leu536=) c.1605G= (p.Leu535=) c.1593G= (p.Leu531=) | |
11 | g.22262184G>T | CA473407237 | ANO5 | c.1236G>T (p.Leu412=) c.1644G>T (p.Leu548=) n.2680G>T c.1641G>T (p.Leu547=) c.1686G>T (p.Leu562=) n.2021G>T c.1683G>T (p.Leu561=) c.1608G>T (p.Leu536=) c.1605G>T (p.Leu535=) c.1593G>T (p.Leu531=) | |
11 | g.22262185T>A | CA379922594 | ANO5 | c.1237T>A (p.Phe413Ile) c.1645T>A (p.Phe549Ile) n.2681T>A c.1642T>A (p.Phe548Ile) c.1687T>A (p.Phe563Ile) n.2022T>A c.1684T>A (p.Phe562Ile) c.1609T>A (p.Phe537Ile) c.1606T>A (p.Phe536Ile) c.1594T>A (p.Phe532Ile) | |
11 | g.22262185T>C | CA379922595 | ANO5 | c.1237T>C (p.Phe413Leu) c.1645T>C (p.Phe549Leu) n.2681T>C c.1642T>C (p.Phe548Leu) c.1687T>C (p.Phe563Leu) n.2022T>C c.1684T>C (p.Phe562Leu) c.1609T>C (p.Phe537Leu) c.1606T>C (p.Phe536Leu) c.1594T>C (p.Phe532Leu) | |
11 | g.22262185T>G | CA379922596 | ANO5 | c.1237T>G (p.Phe413Val) c.1645T>G (p.Phe549Val) n.2681T>G c.1642T>G (p.Phe548Val) c.1687T>G (p.Phe563Val) n.2022T>G c.1684T>G (p.Phe562Val) c.1609T>G (p.Phe537Val) c.1606T>G (p.Phe536Val) c.1594T>G (p.Phe532Val) | |
11 | g.22262187_22262193del | CA2612838422 | ANO5 | c.1239_1245del (p.Phe413LeufsTer2) c.1647_1653del (p.Phe549LeufsTer2) n.2683_2689del c.1644_1650del (p.Phe548LeufsTer2) c.1689_1695del (p.Phe563LeufsTer2) n.2024_2030del c.1686_1692del (p.Phe562LeufsTer2) c.1611_1617del (p.Phe537LeufsTer2) c.1608_1614del (p.Phe536LeufsTer2) c.1596_1602del (p.Phe532LeufsTer2) | gnomAD v4 |
11 | g.22262186T>A | CA379922597 | ANO5 | c.1238T>A (p.Phe413Tyr) c.1646T>A (p.Phe549Tyr) n.2682T>A c.1643T>A (p.Phe548Tyr) c.1688T>A (p.Phe563Tyr) n.2023T>A c.1685T>A (p.Phe562Tyr) c.1610T>A (p.Phe537Tyr) c.1607T>A (p.Phe536Tyr) c.1595T>A (p.Phe532Tyr) | |
11 | g.22262186T>C | CA379922598 | ANO5 | c.1238T>C (p.Phe413Ser) c.1646T>C (p.Phe549Ser) n.2682T>C c.1643T>C (p.Phe548Ser) c.1688T>C (p.Phe563Ser) n.2023T>C c.1685T>C (p.Phe562Ser) c.1610T>C (p.Phe537Ser) c.1607T>C (p.Phe536Ser) c.1595T>C (p.Phe532Ser) | |
11 | g.22262186T>G | CA379922599 | ANO5 | c.1238T>G (p.Phe413Cys) c.1646T>G (p.Phe549Cys) n.2682T>G c.1643T>G (p.Phe548Cys) c.1688T>G (p.Phe563Cys) n.2023T>G c.1685T>G (p.Phe562Cys) c.1610T>G (p.Phe537Cys) c.1607T>G (p.Phe536Cys) c.1595T>G (p.Phe532Cys) | |
11 | g.22262187T>A | CA379922600 | ANO5 | c.1239T>A (p.Phe413Leu) c.1647T>A (p.Phe549Leu) n.2683T>A c.1644T>A (p.Phe548Leu) c.1689T>A (p.Phe563Leu) n.2024T>A c.1686T>A (p.Phe562Leu) c.1611T>A (p.Phe537Leu) c.1608T>A (p.Phe536Leu) c.1596T>A (p.Phe532Leu) | |
11 | g.22262187T>C | CA10606800 | ANO5 | c.1239T>C (p.Phe413=) c.1647T>C (p.Phe549=) n.2683T>C c.1644T>C (p.Phe548=) c.1689T>C (p.Phe563=) n.2024T>C c.1686T>C (p.Phe562=) c.1611T>C (p.Phe537=) c.1608T>C (p.Phe536=) c.1596T>C (p.Phe532=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262187T>G | CA379922601 | ANO5 | c.1239T>G (p.Phe413Leu) c.1647T>G (p.Phe549Leu) n.2683T>G c.1644T>G (p.Phe548Leu) c.1689T>G (p.Phe563Leu) n.2024T>G c.1686T>G (p.Phe562Leu) c.1611T>G (p.Phe537Leu) c.1608T>G (p.Phe536Leu) c.1596T>G (p.Phe532Leu) | |
11 | g.22262187T= | CA1957419830 | ANO5 | c.1239T= (p.Phe413=) c.1647T= (p.Phe549=) n.2683T= c.1644T= (p.Phe548=) c.1689T= (p.Phe563=) n.2024T= c.1686T= (p.Phe562=) c.1611T= (p.Phe537=) c.1608T= (p.Phe536=) c.1596T= (p.Phe532=) | |
11 | g.22262188C>A | CA379922604 | ANO5 | c.1240C>A (p.Gln414Lys) c.1648C>A (p.Gln550Lys) n.2684C>A c.1645C>A (p.Gln549Lys) c.1690C>A (p.Gln564Lys) n.2025C>A c.1687C>A (p.Gln563Lys) c.1612C>A (p.Gln538Lys) c.1609C>A (p.Gln537Lys) c.1597C>A (p.Gln533Lys) | |
11 | g.22262188C>G | CA379922603 | ANO5 | c.1240C>G (p.Gln414Glu) c.1648C>G (p.Gln550Glu) n.2684C>G c.1645C>G (p.Gln549Glu) c.1690C>G (p.Gln564Glu) n.2025C>G c.1687C>G (p.Gln563Glu) c.1612C>G (p.Gln538Glu) c.1609C>G (p.Gln537Glu) c.1597C>G (p.Gln533Glu) | |
11 | g.22262188C>T | CA379922602 | ANO5 | c.1240C>T (p.Gln414Ter) c.1648C>T (p.Gln550Ter) n.2684C>T c.1645C>T (p.Gln549Ter) c.1690C>T (p.Gln564Ter) n.2025C>T c.1687C>T (p.Gln563Ter) c.1612C>T (p.Gln538Ter) c.1609C>T (p.Gln537Ter) c.1597C>T (p.Gln533Ter) | ClinVar dbSNP |
11 | g.22262189A= | CA1957419831 | ANO5 | c.1241A= (p.Gln414=) c.1649A= (p.Gln550=) n.2685A= c.1646A= (p.Gln549=) c.1691A= (p.Gln564=) n.2026A= c.1688A= (p.Gln563=) c.1613A= (p.Gln538=) c.1610A= (p.Gln537=) c.1598A= (p.Gln533=) | |
11 | g.22262189A>C | CA379922605 | ANO5 | c.1241A>C (p.Gln414Pro) c.1649A>C (p.Gln550Pro) n.2685A>C c.1646A>C (p.Gln549Pro) c.1691A>C (p.Gln564Pro) n.2026A>C c.1688A>C (p.Gln563Pro) c.1613A>C (p.Gln538Pro) c.1610A>C (p.Gln537Pro) c.1598A>C (p.Gln533Pro) | gnomAD v4 |
11 | g.22262189A>G | CA379922606 | ANO5 | c.1241A>G (p.Gln414Arg) c.1649A>G (p.Gln550Arg) n.2685A>G c.1646A>G (p.Gln549Arg) c.1691A>G (p.Gln564Arg) n.2026A>G c.1688A>G (p.Gln563Arg) c.1613A>G (p.Gln538Arg) c.1610A>G (p.Gln537Arg) c.1598A>G (p.Gln533Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.22262189A>T | CA379922607 | ANO5 | c.1241A>T (p.Gln414Leu) c.1649A>T (p.Gln550Leu) n.2685A>T c.1646A>T (p.Gln549Leu) c.1691A>T (p.Gln564Leu) n.2026A>T c.1688A>T (p.Gln563Leu) c.1613A>T (p.Gln538Leu) c.1610A>T (p.Gln537Leu) c.1598A>T (p.Gln533Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22262189_22262212delinsAGTTTGTAAATTTTTACTCATCCT | CA1957419832 | ANO5 | c.1241_1264delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln414=) c.1649_1672delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln550=) n.2685_2708delinsAGTTTGTAAATTTTTACTCATCCT c.1646_1669delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln549=) c.1691_1714delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln564=) n.2026_2049delinsAGTTTGTAAATTTTTACTCATCCT c.1688_1711delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln563=) c.1613_1636delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln538=) c.1610_1633delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln537=) c.1598_1621delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln533=) | |
11 | g.22262190G>A | CA473407238 | ANO5 | c.1242G>A (p.Gln414=) c.1650G>A (p.Gln550=) n.2686G>A c.1647G>A (p.Gln549=) c.1692G>A (p.Gln564=) n.2027G>A c.1689G>A (p.Gln563=) c.1614G>A (p.Gln538=) c.1611G>A (p.Gln537=) c.1599G>A (p.Gln533=) | gnomAD v4 |
11 | g.22262190G>C | CA10606349 | ANO5 | c.1242G>C (p.Gln414His) c.1650G>C (p.Gln550His) n.2686G>C c.1647G>C (p.Gln549His) c.1692G>C (p.Gln564His) n.2027G>C c.1689G>C (p.Gln563His) c.1614G>C (p.Gln538His) c.1611G>C (p.Gln537His) c.1599G>C (p.Gln533His) | ClinVar dbSNP |
11 | g.22262190G= | CA1957419833 | ANO5 | c.1242G= (p.Gln414=) c.1650G= (p.Gln550=) n.2686G= c.1647G= (p.Gln549=) c.1692G= (p.Gln564=) n.2027G= c.1689G= (p.Gln563=) c.1614G= (p.Gln538=) c.1611G= (p.Gln537=) c.1599G= (p.Gln533=) | |
11 | g.22262190G>T | CA379922608 | ANO5 | c.1242G>T (p.Gln414His) c.1650G>T (p.Gln550His) n.2686G>T c.1647G>T (p.Gln549His) c.1692G>T (p.Gln564His) n.2027G>T c.1689G>T (p.Gln563His) c.1614G>T (p.Gln538His) c.1611G>T (p.Gln537His) c.1599G>T (p.Gln533His) | gnomAD v4 |
11 | g.22262191_22262213del | CA658823111 | ANO5 | c.1243_1265del (p.Phe415LeufsTer7) c.1651_1673del (p.Phe551LeufsTer7) n.2687_2709del c.1648_1670del (p.Phe550LeufsTer7) c.1693_1715del (p.Phe565LeufsTer7) n.2028_2050del c.1690_1712del (p.Phe564LeufsTer7) c.1615_1637del (p.Phe539LeufsTer7) c.1612_1634del (p.Phe538LeufsTer7) c.1600_1622del (p.Phe534LeufsTer7) | ClinVar dbSNP |
11 | g.22262191T>A | CA379922609 | ANO5 | c.1243T>A (p.Phe415Ile) c.1651T>A (p.Phe551Ile) n.2687T>A c.1648T>A (p.Phe550Ile) c.1693T>A (p.Phe565Ile) n.2028T>A c.1690T>A (p.Phe564Ile) c.1615T>A (p.Phe539Ile) c.1612T>A (p.Phe538Ile) c.1600T>A (p.Phe534Ile) | gnomAD v4 |
11 | g.22262191T>C | CA379922610 | ANO5 | c.1243T>C (p.Phe415Leu) c.1651T>C (p.Phe551Leu) n.2687T>C c.1648T>C (p.Phe550Leu) c.1693T>C (p.Phe565Leu) n.2028T>C c.1690T>C (p.Phe564Leu) c.1615T>C (p.Phe539Leu) c.1612T>C (p.Phe538Leu) c.1600T>C (p.Phe534Leu) | |
11 | g.22262191T>G | CA379922611 | ANO5 | c.1243T>G (p.Phe415Val) c.1651T>G (p.Phe551Val) n.2687T>G c.1648T>G (p.Phe550Val) c.1693T>G (p.Phe565Val) n.2028T>G c.1690T>G (p.Phe564Val) c.1615T>G (p.Phe539Val) c.1612T>G (p.Phe538Val) c.1600T>G (p.Phe534Val) | |
11 | g.22262192T>A | CA379922612 | ANO5 | c.1244T>A (p.Phe415Tyr) c.1652T>A (p.Phe551Tyr) n.2688T>A c.1649T>A (p.Phe550Tyr) c.1694T>A (p.Phe565Tyr) n.2029T>A c.1691T>A (p.Phe564Tyr) c.1616T>A (p.Phe539Tyr) c.1613T>A (p.Phe538Tyr) c.1601T>A (p.Phe534Tyr) | |
11 | g.22262192T>C | CA379922613 | ANO5 | c.1244T>C (p.Phe415Ser) c.1652T>C (p.Phe551Ser) n.2688T>C c.1649T>C (p.Phe550Ser) c.1694T>C (p.Phe565Ser) n.2029T>C c.1691T>C (p.Phe564Ser) c.1616T>C (p.Phe539Ser) c.1613T>C (p.Phe538Ser) c.1601T>C (p.Phe534Ser) | gnomAD v4 |
11 | g.22262192T>G | CA379922614 | ANO5 | c.1244T>G (p.Phe415Cys) c.1652T>G (p.Phe551Cys) n.2688T>G c.1649T>G (p.Phe550Cys) c.1694T>G (p.Phe565Cys) n.2029T>G c.1691T>G (p.Phe564Cys) c.1616T>G (p.Phe539Cys) c.1613T>G (p.Phe538Cys) c.1601T>G (p.Phe534Cys) | |
11 | g.22262193T>A | CA379922615 | ANO5 | c.1245T>A (p.Phe415Leu) c.1653T>A (p.Phe551Leu) n.2689T>A c.1650T>A (p.Phe550Leu) c.1695T>A (p.Phe565Leu) n.2030T>A c.1692T>A (p.Phe564Leu) c.1617T>A (p.Phe539Leu) c.1614T>A (p.Phe538Leu) c.1602T>A (p.Phe534Leu) | |
11 | g.22262193T>C | CA5923323 | ANO5 | c.1245T>C (p.Phe415=) c.1653T>C (p.Phe551=) n.2689T>C c.1650T>C (p.Phe550=) c.1695T>C (p.Phe565=) n.2030T>C c.1692T>C (p.Phe564=) c.1617T>C (p.Phe539=) c.1614T>C (p.Phe538=) c.1602T>C (p.Phe534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262193T>G | CA379922616 | ANO5 | c.1245T>G (p.Phe415Leu) c.1653T>G (p.Phe551Leu) n.2689T>G c.1650T>G (p.Phe550Leu) c.1695T>G (p.Phe565Leu) n.2030T>G c.1692T>G (p.Phe564Leu) c.1617T>G (p.Phe539Leu) c.1614T>G (p.Phe538Leu) c.1602T>G (p.Phe534Leu) | |
11 | g.22262193T= | CA1957419834 | ANO5 | c.1245T= (p.Phe415=) c.1653T= (p.Phe551=) n.2689T= c.1650T= (p.Phe550=) c.1695T= (p.Phe565=) n.2030T= c.1692T= (p.Phe564=) c.1617T= (p.Phe539=) c.1614T= (p.Phe538=) c.1602T= (p.Phe534=) | |
11 | g.22262194G>A | CA379922619 | ANO5 | c.1246G>A (p.Val416Ile) c.1654G>A (p.Val552Ile) n.2690G>A c.1651G>A (p.Val551Ile) c.1696G>A (p.Val566Ile) n.2031G>A c.1693G>A (p.Val565Ile) c.1618G>A (p.Val540Ile) c.1615G>A (p.Val539Ile) c.1603G>A (p.Val535Ile) | |
11 | g.22262194G>C | CA379922618 | ANO5 | c.1246G>C (p.Val416Leu) c.1654G>C (p.Val552Leu) n.2690G>C c.1651G>C (p.Val551Leu) c.1696G>C (p.Val566Leu) n.2031G>C c.1693G>C (p.Val565Leu) c.1618G>C (p.Val540Leu) c.1615G>C (p.Val539Leu) c.1603G>C (p.Val535Leu) | |
11 | g.22262194G>T | CA379922617 | ANO5 | c.1246G>T (p.Val416Leu) c.1654G>T (p.Val552Leu) n.2690G>T c.1651G>T (p.Val551Leu) c.1696G>T (p.Val566Leu) n.2031G>T c.1693G>T (p.Val565Leu) c.1618G>T (p.Val540Leu) c.1615G>T (p.Val539Leu) c.1603G>T (p.Val535Leu) | |
11 | g.22262195T>A | CA379922620 | ANO5 | c.1247T>A (p.Val416Glu) c.1655T>A (p.Val552Glu) n.2691T>A c.1652T>A (p.Val551Glu) c.1697T>A (p.Val566Glu) n.2032T>A c.1694T>A (p.Val565Glu) c.1619T>A (p.Val540Glu) c.1616T>A (p.Val539Glu) c.1604T>A (p.Val535Glu) | |
11 | g.22262195T>C | CA379922621 | ANO5 | c.1247T>C (p.Val416Ala) c.1655T>C (p.Val552Ala) n.2691T>C c.1652T>C (p.Val551Ala) c.1697T>C (p.Val566Ala) n.2032T>C c.1694T>C (p.Val565Ala) c.1619T>C (p.Val540Ala) c.1616T>C (p.Val539Ala) c.1604T>C (p.Val535Ala) | gnomAD v4 |
11 | g.22262195T>G | CA379922622 | ANO5 | c.1247T>G (p.Val416Gly) c.1655T>G (p.Val552Gly) n.2691T>G c.1652T>G (p.Val551Gly) c.1697T>G (p.Val566Gly) n.2032T>G c.1694T>G (p.Val565Gly) c.1619T>G (p.Val540Gly) c.1616T>G (p.Val539Gly) c.1604T>G (p.Val535Gly) | |
11 | g.22262196A= | CA1957419835 | ANO5 | c.1248A= (p.Val416=) c.1656A= (p.Val552=) n.2692A= c.1653A= (p.Val551=) c.1698A= (p.Val566=) n.2033A= c.1695A= (p.Val565=) c.1620A= (p.Val540=) c.1617A= (p.Val539=) c.1605A= (p.Val535=) | |
11 | g.22262196A>C | CA473407239 | ANO5 | c.1248A>C (p.Val416=) c.1656A>C (p.Val552=) n.2692A>C c.1653A>C (p.Val551=) c.1698A>C (p.Val566=) n.2033A>C c.1695A>C (p.Val565=) c.1620A>C (p.Val540=) c.1617A>C (p.Val539=) c.1605A>C (p.Val535=) | |
11 | g.22262196A>G | CA5923324 | ANO5 | c.1248A>G (p.Val416=) c.1656A>G (p.Val552=) n.2692A>G c.1653A>G (p.Val551=) c.1698A>G (p.Val566=) n.2033A>G c.1695A>G (p.Val565=) c.1620A>G (p.Val540=) c.1617A>G (p.Val539=) c.1605A>G (p.Val535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262196A>T | CA473407240 | ANO5 | c.1248A>T (p.Val416=) c.1656A>T (p.Val552=) n.2692A>T c.1653A>T (p.Val551=) c.1698A>T (p.Val566=) n.2033A>T c.1695A>T (p.Val565=) c.1620A>T (p.Val540=) c.1617A>T (p.Val539=) c.1605A>T (p.Val535=) | |
11 | g.22262196_22262197insTTAAACTAACCACTGG | CA2536293326 | ANO5 | c.1248_1249insTTAAACTAACCACTGG (p.Asn417LeufsTer3) c.1656_1657insTTAAACTAACCACTGG (p.Asn553LeufsTer3) n.2692_2693insTTAAACTAACCACTGG c.1653_1654insTTAAACTAACCACTGG (p.Asn552LeufsTer3) c.1698_1699insTTAAACTAACCACTGG (p.Asn567LeufsTer3) n.2033_2034insTTAAACTAACCACTGG c.1695_1696insTTAAACTAACCACTGG (p.Asn566LeufsTer3) c.1620_1621insTTAAACTAACCACTGG (p.Asn541LeufsTer3) c.1617_1618insTTAAACTAACCACTGG (p.Asn540LeufsTer3) c.1605_1606insTTAAACTAACCACTGG (p.Asn536LeufsTer3) | |
11 | g.22262197A>C | CA379922623 | ANO5 | c.1249A>C (p.Asn417His) c.1657A>C (p.Asn553His) n.2693A>C c.1654A>C (p.Asn552His) c.1699A>C (p.Asn567His) n.2034A>C c.1696A>C (p.Asn566His) c.1621A>C (p.Asn541His) c.1618A>C (p.Asn540His) c.1606A>C (p.Asn536His) | COSMIC |
11 | g.22262197A>G | CA379922624 | ANO5 | c.1249A>G (p.Asn417Asp) c.1657A>G (p.Asn553Asp) n.2693A>G c.1654A>G (p.Asn552Asp) c.1699A>G (p.Asn567Asp) n.2034A>G c.1696A>G (p.Asn566Asp) c.1621A>G (p.Asn541Asp) c.1618A>G (p.Asn540Asp) c.1606A>G (p.Asn536Asp) | |
11 | g.22262197A>T | CA379922625 | ANO5 | c.1249A>T (p.Asn417Tyr) c.1657A>T (p.Asn553Tyr) n.2693A>T c.1654A>T (p.Asn552Tyr) c.1699A>T (p.Asn567Tyr) n.2034A>T c.1696A>T (p.Asn566Tyr) c.1621A>T (p.Asn541Tyr) c.1618A>T (p.Asn540Tyr) c.1606A>T (p.Asn536Tyr) | |
11 | g.22262198A= | CA1957419836 | ANO5 | c.1250A= (p.Asn417=) c.1658A= (p.Asn553=) n.2694A= c.1655A= (p.Asn552=) c.1700A= (p.Asn567=) n.2035A= c.1697A= (p.Asn566=) c.1622A= (p.Asn541=) c.1619A= (p.Asn540=) c.1607A= (p.Asn536=) | |
11 | g.22262198A>C | CA379922626 | ANO5 | c.1250A>C (p.Asn417Thr) c.1658A>C (p.Asn553Thr) n.2694A>C c.1655A>C (p.Asn552Thr) c.1700A>C (p.Asn567Thr) n.2035A>C c.1697A>C (p.Asn566Thr) c.1622A>C (p.Asn541Thr) c.1619A>C (p.Asn540Thr) c.1607A>C (p.Asn536Thr) | |
11 | g.22262198A>G | CA379922627 | ANO5 | c.1250A>G (p.Asn417Ser) c.1658A>G (p.Asn553Ser) n.2694A>G c.1655A>G (p.Asn552Ser) c.1700A>G (p.Asn567Ser) n.2035A>G c.1697A>G (p.Asn566Ser) c.1622A>G (p.Asn541Ser) c.1619A>G (p.Asn540Ser) c.1607A>G (p.Asn536Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22262198A>T | CA379922628 | ANO5 | c.1250A>T (p.Asn417Ile) c.1658A>T (p.Asn553Ile) n.2694A>T c.1655A>T (p.Asn552Ile) c.1700A>T (p.Asn567Ile) n.2035A>T c.1697A>T (p.Asn566Ile) c.1622A>T (p.Asn541Ile) c.1619A>T (p.Asn540Ile) c.1607A>T (p.Asn536Ile) | |
11 | g.22262199T>A | CA379922629 | ANO5 | c.1251T>A (p.Asn417Lys) c.1659T>A (p.Asn553Lys) n.2695T>A c.1656T>A (p.Asn552Lys) c.1701T>A (p.Asn567Lys) n.2036T>A c.1698T>A (p.Asn566Lys) c.1623T>A (p.Asn541Lys) c.1620T>A (p.Asn540Lys) c.1608T>A (p.Asn536Lys) | |
11 | g.22262199T>C | CA473407241 | ANO5 | c.1251T>C (p.Asn417=) c.1659T>C (p.Asn553=) n.2695T>C c.1656T>C (p.Asn552=) c.1701T>C (p.Asn567=) n.2036T>C c.1698T>C (p.Asn566=) c.1623T>C (p.Asn541=) c.1620T>C (p.Asn540=) c.1608T>C (p.Asn536=) | gnomAD v4 |
11 | g.22262199T>G | CA379922630 | ANO5 | c.1251T>G (p.Asn417Lys) c.1659T>G (p.Asn553Lys) n.2695T>G c.1656T>G (p.Asn552Lys) c.1701T>G (p.Asn567Lys) n.2036T>G c.1698T>G (p.Asn566Lys) c.1623T>G (p.Asn541Lys) c.1620T>G (p.Asn540Lys) c.1608T>G (p.Asn536Lys) | |
11 | g.22262200T>A | CA379922631 | ANO5 | c.1252T>A (p.Phe418Ile) c.1660T>A (p.Phe554Ile) n.2696T>A c.1657T>A (p.Phe553Ile) c.1702T>A (p.Phe568Ile) n.2037T>A c.1699T>A (p.Phe567Ile) c.1624T>A (p.Phe542Ile) c.1621T>A (p.Phe541Ile) c.1609T>A (p.Phe537Ile) | |
11 | g.22262200T>C | CA379922632 | ANO5 | c.1252T>C (p.Phe418Leu) c.1660T>C (p.Phe554Leu) n.2696T>C c.1657T>C (p.Phe553Leu) c.1702T>C (p.Phe568Leu) n.2037T>C c.1699T>C (p.Phe567Leu) c.1624T>C (p.Phe542Leu) c.1621T>C (p.Phe541Leu) c.1609T>C (p.Phe537Leu) | |
11 | g.22262200T>G | CA379922633 | ANO5 | c.1252T>G (p.Phe418Val) c.1660T>G (p.Phe554Val) n.2696T>G c.1657T>G (p.Phe553Val) c.1702T>G (p.Phe568Val) n.2037T>G c.1699T>G (p.Phe567Val) c.1624T>G (p.Phe542Val) c.1621T>G (p.Phe541Val) c.1609T>G (p.Phe537Val) | COSMIC |
11 | g.22262201T>A | CA379922635 | ANO5 | c.1253T>A (p.Phe418Tyr) c.1661T>A (p.Phe554Tyr) n.2697T>A c.1658T>A (p.Phe553Tyr) c.1703T>A (p.Phe568Tyr) n.2038T>A c.1700T>A (p.Phe567Tyr) c.1625T>A (p.Phe542Tyr) c.1622T>A (p.Phe541Tyr) c.1610T>A (p.Phe537Tyr) | dbSNP |
11 | g.22262201T>C | CA379922636 | ANO5 | c.1253T>C (p.Phe418Ser) c.1661T>C (p.Phe554Ser) n.2697T>C c.1658T>C (p.Phe553Ser) c.1703T>C (p.Phe568Ser) n.2038T>C c.1700T>C (p.Phe567Ser) c.1625T>C (p.Phe542Ser) c.1622T>C (p.Phe541Ser) c.1610T>C (p.Phe537Ser) | |
11 | g.22262201T>G | CA379922634 | ANO5 | c.1253T>G (p.Phe418Cys) c.1661T>G (p.Phe554Cys) n.2697T>G c.1658T>G (p.Phe553Cys) c.1703T>G (p.Phe568Cys) n.2038T>G c.1700T>G (p.Phe567Cys) c.1625T>G (p.Phe542Cys) c.1622T>G (p.Phe541Cys) c.1610T>G (p.Phe537Cys) | |
11 | g.22262201T= | CA1957419837 | ANO5 | c.1253T= (p.Phe418=) c.1661T= (p.Phe554=) n.2697T= c.1658T= (p.Phe553=) c.1703T= (p.Phe568=) n.2038T= c.1700T= (p.Phe567=) c.1625T= (p.Phe542=) c.1622T= (p.Phe541=) c.1610T= (p.Phe537=) | |
11 | g.22262202T>A | CA379922637 | ANO5 | c.1254T>A (p.Phe418Leu) c.1662T>A (p.Phe554Leu) n.2698T>A c.1659T>A (p.Phe553Leu) c.1704T>A (p.Phe568Leu) n.2039T>A c.1701T>A (p.Phe567Leu) c.1626T>A (p.Phe542Leu) c.1623T>A (p.Phe541Leu) c.1611T>A (p.Phe537Leu) | |
11 | g.22262202T>C | CA473407243 | ANO5 | c.1254T>C (p.Phe418=) c.1662T>C (p.Phe554=) n.2698T>C c.1659T>C (p.Phe553=) c.1704T>C (p.Phe568=) n.2039T>C c.1701T>C (p.Phe567=) c.1626T>C (p.Phe542=) c.1623T>C (p.Phe541=) c.1611T>C (p.Phe537=) | |
11 | g.22262202T>G | CA379922638 | ANO5 | c.1254T>G (p.Phe418Leu) c.1662T>G (p.Phe554Leu) n.2698T>G c.1659T>G (p.Phe553Leu) c.1704T>G (p.Phe568Leu) n.2039T>G c.1701T>G (p.Phe567Leu) c.1626T>G (p.Phe542Leu) c.1623T>G (p.Phe541Leu) c.1611T>G (p.Phe537Leu) | COSMIC |
11 | g.22262203T>A | CA379922639 | ANO5 | c.1255T>A (p.Tyr419Asn) c.1663T>A (p.Tyr555Asn) n.2699T>A c.1660T>A (p.Tyr554Asn) c.1705T>A (p.Tyr569Asn) n.2040T>A c.1702T>A (p.Tyr568Asn) c.1627T>A (p.Tyr543Asn) c.1624T>A (p.Tyr542Asn) c.1612T>A (p.Tyr538Asn) | |
11 | g.22262203T>C | CA379922640 | ANO5 | c.1255T>C (p.Tyr419His) c.1663T>C (p.Tyr555His) n.2699T>C c.1660T>C (p.Tyr554His) c.1705T>C (p.Tyr569His) n.2040T>C c.1702T>C (p.Tyr568His) c.1627T>C (p.Tyr543His) c.1624T>C (p.Tyr542His) c.1612T>C (p.Tyr538His) | |
11 | g.22262203T>G | CA379922641 | ANO5 | c.1255T>G (p.Tyr419Asp) c.1663T>G (p.Tyr555Asp) n.2699T>G c.1660T>G (p.Tyr554Asp) c.1705T>G (p.Tyr569Asp) n.2040T>G c.1702T>G (p.Tyr568Asp) c.1627T>G (p.Tyr543Asp) c.1624T>G (p.Tyr542Asp) c.1612T>G (p.Tyr538Asp) | |
11 | g.22262204A>C | CA379922642 | ANO5 | c.1256A>C (p.Tyr419Ser) c.1664A>C (p.Tyr555Ser) n.2700A>C c.1661A>C (p.Tyr554Ser) c.1706A>C (p.Tyr569Ser) n.2041A>C c.1703A>C (p.Tyr568Ser) c.1628A>C (p.Tyr543Ser) c.1625A>C (p.Tyr542Ser) c.1613A>C (p.Tyr538Ser) | |
11 | g.22262204A>G | CA379922643 | ANO5 | c.1256A>G (p.Tyr419Cys) c.1664A>G (p.Tyr555Cys) n.2700A>G c.1661A>G (p.Tyr554Cys) c.1706A>G (p.Tyr569Cys) n.2041A>G c.1703A>G (p.Tyr568Cys) c.1628A>G (p.Tyr543Cys) c.1625A>G (p.Tyr542Cys) c.1613A>G (p.Tyr538Cys) | |
11 | g.22262204A>T | CA379922644 | ANO5 | c.1256A>T (p.Tyr419Phe) c.1664A>T (p.Tyr555Phe) n.2700A>T c.1661A>T (p.Tyr554Phe) c.1706A>T (p.Tyr569Phe) n.2041A>T c.1703A>T (p.Tyr568Phe) c.1628A>T (p.Tyr543Phe) c.1625A>T (p.Tyr542Phe) c.1613A>T (p.Tyr538Phe) | |
11 | g.22262205C>A | CA379922645 | ANO5 | c.1257C>A (p.Tyr419Ter) c.1665C>A (p.Tyr555Ter) n.2701C>A c.1662C>A (p.Tyr554Ter) c.1707C>A (p.Tyr569Ter) n.2042C>A c.1704C>A (p.Tyr568Ter) c.1629C>A (p.Tyr543Ter) c.1626C>A (p.Tyr542Ter) c.1614C>A (p.Tyr538Ter) | |
11 | g.22262205C= | CA1957419838 | ANO5 | c.1257C= (p.Tyr419=) c.1665C= (p.Tyr555=) n.2701C= c.1662C= (p.Tyr554=) c.1707C= (p.Tyr569=) n.2042C= c.1704C= (p.Tyr568=) c.1629C= (p.Tyr543=) c.1626C= (p.Tyr542=) c.1614C= (p.Tyr538=) | |
11 | g.22262205C>G | CA379922646 | ANO5 | c.1257C>G (p.Tyr419Ter) c.1665C>G (p.Tyr555Ter) n.2701C>G c.1662C>G (p.Tyr554Ter) c.1707C>G (p.Tyr569Ter) n.2042C>G c.1704C>G (p.Tyr568Ter) c.1629C>G (p.Tyr543Ter) c.1626C>G (p.Tyr542Ter) c.1614C>G (p.Tyr538Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22262205C>T | CA473407244 | ANO5 | c.1257C>T (p.Tyr419=) c.1665C>T (p.Tyr555=) n.2701C>T c.1662C>T (p.Tyr554=) c.1707C>T (p.Tyr569=) n.2042C>T c.1704C>T (p.Tyr568=) c.1629C>T (p.Tyr543=) c.1626C>T (p.Tyr542=) c.1614C>T (p.Tyr538=) | dbSNP |
11 | g.22262206T>A | CA379922647 | ANO5 | c.1258T>A (p.Ser420Thr) c.1666T>A (p.Ser556Thr) n.2702T>A c.1663T>A (p.Ser555Thr) c.1708T>A (p.Ser570Thr) n.2043T>A c.1705T>A (p.Ser569Thr) c.1630T>A (p.Ser544Thr) c.1627T>A (p.Ser543Thr) c.1615T>A (p.Ser539Thr) | |
11 | g.22262206T>C | CA379922648 | ANO5 | c.1258T>C (p.Ser420Pro) c.1666T>C (p.Ser556Pro) n.2702T>C c.1663T>C (p.Ser555Pro) c.1708T>C (p.Ser570Pro) n.2043T>C c.1705T>C (p.Ser569Pro) c.1630T>C (p.Ser544Pro) c.1627T>C (p.Ser543Pro) c.1615T>C (p.Ser539Pro) | |
11 | g.22262206T>G | CA379922649 | ANO5 | c.1258T>G (p.Ser420Ala) c.1666T>G (p.Ser556Ala) n.2702T>G c.1663T>G (p.Ser555Ala) c.1708T>G (p.Ser570Ala) n.2043T>G c.1705T>G (p.Ser569Ala) c.1630T>G (p.Ser544Ala) c.1627T>G (p.Ser543Ala) c.1615T>G (p.Ser539Ala) | |
11 | g.22262207C>A | CA379922650 | ANO5 | c.1259C>A (p.Ser420Ter) c.1667C>A (p.Ser556Ter) n.2703C>A c.1664C>A (p.Ser555Ter) c.1709C>A (p.Ser570Ter) n.2044C>A c.1706C>A (p.Ser569Ter) c.1631C>A (p.Ser544Ter) c.1628C>A (p.Ser543Ter) c.1616C>A (p.Ser539Ter) | |
11 | g.22262207C= | CA1957419839 | ANO5 | c.1259C= (p.Ser420=) c.1667C= (p.Ser556=) n.2703C= c.1664C= (p.Ser555=) c.1709C= (p.Ser570=) n.2044C= c.1706C= (p.Ser569=) c.1631C= (p.Ser544=) c.1628C= (p.Ser543=) c.1616C= (p.Ser539=) | |
11 | g.22262207C>G | CA201303 | ANO5 | c.1259C>G (p.Ser420Ter) c.1667C>G (p.Ser556Ter) n.2703C>G c.1664C>G (p.Ser555Ter) c.1709C>G (p.Ser570Ter) n.2044C>G c.1706C>G (p.Ser569Ter) c.1631C>G (p.Ser544Ter) c.1628C>G (p.Ser543Ter) c.1616C>G (p.Ser539Ter) | ClinVar dbSNP |
11 | g.22262207C>T | CA5923325 | ANO5 | c.1259C>T (p.Ser420Leu) c.1667C>T (p.Ser556Leu) n.2703C>T c.1664C>T (p.Ser555Leu) c.1709C>T (p.Ser570Leu) n.2044C>T c.1706C>T (p.Ser569Leu) c.1631C>T (p.Ser544Leu) c.1628C>T (p.Ser543Leu) c.1616C>T (p.Ser539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262208A>C | CA473407246 | ANO5 | c.1260A>C (p.Ser420=) c.1668A>C (p.Ser556=) n.2704A>C c.1665A>C (p.Ser555=) c.1710A>C (p.Ser570=) n.2045A>C c.1707A>C (p.Ser569=) c.1632A>C (p.Ser544=) c.1629A>C (p.Ser543=) c.1617A>C (p.Ser539=) | |
11 | g.22262208A>G | CA473407248 | ANO5 | c.1260A>G (p.Ser420=) c.1668A>G (p.Ser556=) n.2704A>G c.1665A>G (p.Ser555=) c.1710A>G (p.Ser570=) n.2045A>G c.1707A>G (p.Ser569=) c.1632A>G (p.Ser544=) c.1629A>G (p.Ser543=) c.1617A>G (p.Ser539=) | gnomAD v4 |
11 | g.22262208A>T | CA473407247 | ANO5 | c.1260A>T (p.Ser420=) c.1668A>T (p.Ser556=) n.2704A>T c.1665A>T (p.Ser555=) c.1710A>T (p.Ser570=) n.2045A>T c.1707A>T (p.Ser569=) c.1632A>T (p.Ser544=) c.1629A>T (p.Ser543=) c.1617A>T (p.Ser539=) | gnomAD v4 |
11 | g.22262209T>A | CA218767991 | ANO5 | c.1261T>A (p.Ser421Thr) c.1669T>A (p.Ser557Thr) n.2705T>A c.1666T>A (p.Ser556Thr) c.1711T>A (p.Ser571Thr) n.2046T>A c.1708T>A (p.Ser570Thr) c.1633T>A (p.Ser545Thr) c.1630T>A (p.Ser544Thr) c.1618T>A (p.Ser540Thr) | dbSNP gnomAD v4 |
11 | g.22262209T>C | CA379922651 | ANO5 | c.1261T>C (p.Ser421Pro) c.1669T>C (p.Ser557Pro) n.2705T>C c.1666T>C (p.Ser556Pro) c.1711T>C (p.Ser571Pro) n.2046T>C c.1708T>C (p.Ser570Pro) c.1633T>C (p.Ser545Pro) c.1630T>C (p.Ser544Pro) c.1618T>C (p.Ser540Pro) | ClinVar |
11 | g.22262209T>G | CA379922652 | ANO5 | c.1261T>G (p.Ser421Ala) c.1669T>G (p.Ser557Ala) n.2705T>G c.1666T>G (p.Ser556Ala) c.1711T>G (p.Ser571Ala) n.2046T>G c.1708T>G (p.Ser570Ala) c.1633T>G (p.Ser545Ala) c.1630T>G (p.Ser544Ala) c.1618T>G (p.Ser540Ala) | |
11 | g.22262209T= | CA1957419840 | ANO5 | c.1261T= (p.Ser421=) c.1669T= (p.Ser557=) n.2705T= c.1666T= (p.Ser556=) c.1711T= (p.Ser571=) n.2046T= c.1708T= (p.Ser570=) c.1633T= (p.Ser545=) c.1630T= (p.Ser544=) c.1618T= (p.Ser540=) | |
11 | g.22262210C>A | CA379922653 | ANO5 | c.1262C>A (p.Ser421Tyr) c.1670C>A (p.Ser557Tyr) n.2706C>A c.1667C>A (p.Ser556Tyr) c.1712C>A (p.Ser571Tyr) n.2047C>A c.1709C>A (p.Ser570Tyr) c.1634C>A (p.Ser545Tyr) c.1631C>A (p.Ser544Tyr) c.1619C>A (p.Ser540Tyr) | |
11 | g.22262210C= | CA1957419841 | ANO5 | c.1262C= (p.Ser421=) c.1670C= (p.Ser557=) n.2706C= c.1667C= (p.Ser556=) c.1712C= (p.Ser571=) n.2047C= c.1709C= (p.Ser570=) c.1634C= (p.Ser545=) c.1631C= (p.Ser544=) c.1619C= (p.Ser540=) | |
11 | g.22262210C>G | CA379922654 | ANO5 | c.1262C>G (p.Ser421Cys) c.1670C>G (p.Ser557Cys) n.2706C>G c.1667C>G (p.Ser556Cys) c.1712C>G (p.Ser571Cys) n.2047C>G c.1709C>G (p.Ser570Cys) c.1634C>G (p.Ser545Cys) c.1631C>G (p.Ser544Cys) c.1619C>G (p.Ser540Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22262210C>T | CA379922655 | ANO5 | c.1262C>T (p.Ser421Phe) c.1670C>T (p.Ser557Phe) n.2706C>T c.1667C>T (p.Ser556Phe) c.1712C>T (p.Ser571Phe) n.2047C>T c.1709C>T (p.Ser570Phe) c.1634C>T (p.Ser545Phe) c.1631C>T (p.Ser544Phe) c.1619C>T (p.Ser540Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262211C>A | CA473407249 | ANO5 | c.1263C>A (p.Ser421=) c.1671C>A (p.Ser557=) n.2707C>A c.1668C>A (p.Ser556=) c.1713C>A (p.Ser571=) n.2048C>A c.1710C>A (p.Ser570=) c.1635C>A (p.Ser545=) c.1632C>A (p.Ser544=) c.1620C>A (p.Ser540=) | |
11 | g.22262211C>G | CA473407250 | ANO5 | c.1263C>G (p.Ser421=) c.1671C>G (p.Ser557=) n.2707C>G c.1668C>G (p.Ser556=) c.1713C>G (p.Ser571=) n.2048C>G c.1710C>G (p.Ser570=) c.1635C>G (p.Ser545=) c.1632C>G (p.Ser544=) c.1620C>G (p.Ser540=) | |
11 | g.22262211C>T | CA473407251 | ANO5 | c.1263C>T (p.Ser421=) c.1671C>T (p.Ser557=) n.2707C>T c.1668C>T (p.Ser556=) c.1713C>T (p.Ser571=) n.2048C>T c.1710C>T (p.Ser570=) c.1635C>T (p.Ser545=) c.1632C>T (p.Ser544=) c.1620C>T (p.Ser540=) | |
11 | g.22262212T>A | CA379922656 | ANO5 | c.1264T>A (p.Cys422Ser) c.1672T>A (p.Cys558Ser) n.2708T>A c.1669T>A (p.Cys557Ser) c.1714T>A (p.Cys572Ser) n.2049T>A c.1711T>A (p.Cys571Ser) c.1636T>A (p.Cys546Ser) c.1633T>A (p.Cys545Ser) c.1621T>A (p.Cys541Ser) | |
11 | g.22262212T>C | CA379922657 | ANO5 | c.1264T>C (p.Cys422Arg) c.1672T>C (p.Cys558Arg) n.2708T>C c.1669T>C (p.Cys557Arg) c.1714T>C (p.Cys572Arg) n.2049T>C c.1711T>C (p.Cys571Arg) c.1636T>C (p.Cys546Arg) c.1633T>C (p.Cys545Arg) c.1621T>C (p.Cys541Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22262212T>G | CA379922658 | ANO5 | c.1264T>G (p.Cys422Gly) c.1672T>G (p.Cys558Gly) n.2708T>G c.1669T>G (p.Cys557Gly) c.1714T>G (p.Cys572Gly) n.2049T>G c.1711T>G (p.Cys571Gly) c.1636T>G (p.Cys546Gly) c.1633T>G (p.Cys545Gly) c.1621T>G (p.Cys541Gly) | |
11 | g.22262212T= | CA1957419842 | ANO5 | c.1264T= (p.Cys422=) c.1672T= (p.Cys558=) n.2708T= c.1669T= (p.Cys557=) c.1714T= (p.Cys572=) n.2049T= c.1711T= (p.Cys571=) c.1636T= (p.Cys546=) c.1633T= (p.Cys545=) c.1621T= (p.Cys541=) | |
11 | g.22262213G>A | CA379922659 | ANO5 | c.1265G>A (p.Cys422Tyr) c.1673G>A (p.Cys558Tyr) n.2709G>A c.1670G>A (p.Cys557Tyr) c.1715G>A (p.Cys572Tyr) n.2050G>A c.1712G>A (p.Cys571Tyr) c.1637G>A (p.Cys546Tyr) c.1634G>A (p.Cys545Tyr) c.1622G>A (p.Cys541Tyr) | |
11 | g.22262213G>C | CA379922660 | ANO5 | c.1265G>C (p.Cys422Ser) c.1673G>C (p.Cys558Ser) n.2709G>C c.1670G>C (p.Cys557Ser) c.1715G>C (p.Cys572Ser) n.2050G>C c.1712G>C (p.Cys571Ser) c.1637G>C (p.Cys546Ser) c.1634G>C (p.Cys545Ser) c.1622G>C (p.Cys541Ser) | gnomAD v4 |
11 | g.22262213G>T | CA379922661 | ANO5 | c.1265G>T (p.Cys422Phe) c.1673G>T (p.Cys558Phe) n.2709G>T c.1670G>T (p.Cys557Phe) c.1715G>T (p.Cys572Phe) n.2050G>T c.1712G>T (p.Cys571Phe) c.1637G>T (p.Cys546Phe) c.1634G>T (p.Cys545Phe) c.1622G>T (p.Cys541Phe) | |
11 | g.22262214C>A | CA5923326 | ANO5 | c.1266C>A (p.Cys422Ter) c.1674C>A (p.Cys558Ter) n.2710C>A c.1671C>A (p.Cys557Ter) c.1716C>A (p.Cys572Ter) n.2051C>A c.1713C>A (p.Cys571Ter) c.1638C>A (p.Cys546Ter) c.1635C>A (p.Cys545Ter) c.1623C>A (p.Cys541Ter) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.22262214C= | CA1957419843 | ANO5 | c.1266C= (p.Cys422=) c.1674C= (p.Cys558=) n.2710C= c.1671C= (p.Cys557=) c.1716C= (p.Cys572=) n.2051C= c.1713C= (p.Cys571=) c.1638C= (p.Cys546=) c.1635C= (p.Cys545=) c.1623C= (p.Cys541=) | |
11 | g.22262214C>G | CA379922662 | ANO5 | c.1266C>G (p.Cys422Trp) c.1674C>G (p.Cys558Trp) n.2710C>G c.1671C>G (p.Cys557Trp) c.1716C>G (p.Cys572Trp) n.2051C>G c.1713C>G (p.Cys571Trp) c.1638C>G (p.Cys546Trp) c.1635C>G (p.Cys545Trp) c.1623C>G (p.Cys541Trp) | |
11 | g.22262214C>T | CA5923327 | ANO5 | c.1266C>T (p.Cys422=) c.1674C>T (p.Cys558=) n.2710C>T c.1671C>T (p.Cys557=) c.1716C>T (p.Cys572=) n.2051C>T c.1713C>T (p.Cys571=) c.1638C>T (p.Cys546=) c.1635C>T (p.Cys545=) c.1623C>T (p.Cys541=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22262215T>A | CA379922663 | ANO5 | c.1267T>A (p.Phe423Ile) c.1675T>A (p.Phe559Ile) n.2711T>A c.1672T>A (p.Phe558Ile) c.1717T>A (p.Phe573Ile) n.2052T>A c.1714T>A (p.Phe572Ile) c.1639T>A (p.Phe547Ile) c.1636T>A (p.Phe546Ile) c.1624T>A (p.Phe542Ile) | gnomAD v4 |
11 | g.22262215T>C | CA379922665 | ANO5 | c.1267T>C (p.Phe423Leu) c.1675T>C (p.Phe559Leu) n.2711T>C c.1672T>C (p.Phe558Leu) c.1717T>C (p.Phe573Leu) n.2052T>C c.1714T>C (p.Phe572Leu) c.1639T>C (p.Phe547Leu) c.1636T>C (p.Phe546Leu) c.1624T>C (p.Phe542Leu) | |
11 | g.22262215T>G | CA379922664 | ANO5 | c.1267T>G (p.Phe423Val) c.1675T>G (p.Phe559Val) n.2711T>G c.1672T>G (p.Phe558Val) c.1717T>G (p.Phe573Val) n.2052T>G c.1714T>G (p.Phe572Val) c.1639T>G (p.Phe547Val) c.1636T>G (p.Phe546Val) c.1624T>G (p.Phe542Val) | |
11 | g.22262216T>A | CA379922666 | ANO5 | c.1268T>A (p.Phe423Tyr) c.1676T>A (p.Phe559Tyr) n.2712T>A c.1673T>A (p.Phe558Tyr) c.1718T>A (p.Phe573Tyr) n.2053T>A c.1715T>A (p.Phe572Tyr) c.1640T>A (p.Phe547Tyr) c.1637T>A (p.Phe546Tyr) c.1625T>A (p.Phe542Tyr) | |
11 | g.22262216T>C | CA379922667 | ANO5 | c.1268T>C (p.Phe423Ser) c.1676T>C (p.Phe559Ser) n.2712T>C c.1673T>C (p.Phe558Ser) c.1718T>C (p.Phe573Ser) n.2053T>C c.1715T>C (p.Phe572Ser) c.1640T>C (p.Phe547Ser) c.1637T>C (p.Phe546Ser) c.1625T>C (p.Phe542Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.22262216T>G | CA379922668 | ANO5 | c.1268T>G (p.Phe423Cys) c.1676T>G (p.Phe559Cys) n.2712T>G c.1673T>G (p.Phe558Cys) c.1718T>G (p.Phe573Cys) n.2053T>G c.1715T>G (p.Phe572Cys) c.1640T>G (p.Phe547Cys) c.1637T>G (p.Phe546Cys) c.1625T>G (p.Phe542Cys) | |
11 | g.22262217C>A | CA379922669 | ANO5 | c.1269C>A (p.Phe423Leu) c.1677C>A (p.Phe559Leu) n.2713C>A c.1674C>A (p.Phe558Leu) c.1719C>A (p.Phe573Leu) n.2054C>A c.1716C>A (p.Phe572Leu) c.1641C>A (p.Phe547Leu) c.1638C>A (p.Phe546Leu) c.1626C>A (p.Phe542Leu) | |
11 | g.22262217C>G | CA379922670 | ANO5 | c.1269C>G (p.Phe423Leu) c.1677C>G (p.Phe559Leu) n.2713C>G c.1674C>G (p.Phe558Leu) c.1719C>G (p.Phe573Leu) n.2054C>G c.1716C>G (p.Phe572Leu) c.1641C>G (p.Phe547Leu) c.1638C>G (p.Phe546Leu) c.1626C>G (p.Phe542Leu) | |
11 | g.22262217C>T | CA473407252 | ANO5 | c.1269C>T (p.Phe423=) c.1677C>T (p.Phe559=) n.2713C>T c.1674C>T (p.Phe558=) c.1719C>T (p.Phe573=) n.2054C>T c.1716C>T (p.Phe572=) c.1641C>T (p.Phe547=) c.1638C>T (p.Phe546=) c.1626C>T (p.Phe542=) | COSMIC |
11 | g.22262218T>A | CA379922671 | ANO5 | c.1270T>A (p.Tyr424Asn) c.1678T>A (p.Tyr560Asn) n.2714T>A c.1675T>A (p.Tyr559Asn) c.1720T>A (p.Tyr574Asn) n.2055T>A c.1717T>A (p.Tyr573Asn) c.1642T>A (p.Tyr548Asn) c.1639T>A (p.Tyr547Asn) c.1627T>A (p.Tyr543Asn) | |
11 | g.22262218T>C | CA379922672 | ANO5 | c.1270T>C (p.Tyr424His) c.1678T>C (p.Tyr560His) n.2714T>C c.1675T>C (p.Tyr559His) c.1720T>C (p.Tyr574His) n.2055T>C c.1717T>C (p.Tyr573His) c.1642T>C (p.Tyr548His) c.1639T>C (p.Tyr547His) c.1627T>C (p.Tyr543His) | |
11 | g.22262218T>G | CA379922673 | ANO5 | c.1270T>G (p.Tyr424Asp) c.1678T>G (p.Tyr560Asp) n.2714T>G c.1675T>G (p.Tyr559Asp) c.1720T>G (p.Tyr574Asp) n.2055T>G c.1717T>G (p.Tyr573Asp) c.1642T>G (p.Tyr548Asp) c.1639T>G (p.Tyr547Asp) c.1627T>G (p.Tyr543Asp) | |
11 | g.22262219A>C | CA379922674 | ANO5 | c.1271A>C (p.Tyr424Ser) c.1679A>C (p.Tyr560Ser) n.2715A>C c.1676A>C (p.Tyr559Ser) c.1721A>C (p.Tyr574Ser) n.2056A>C c.1718A>C (p.Tyr573Ser) c.1643A>C (p.Tyr548Ser) c.1640A>C (p.Tyr547Ser) c.1628A>C (p.Tyr543Ser) | |
11 | g.22262219A>G | CA379922675 | ANO5 | c.1271A>G (p.Tyr424Cys) c.1679A>G (p.Tyr560Cys) n.2715A>G c.1676A>G (p.Tyr559Cys) c.1721A>G (p.Tyr574Cys) n.2056A>G c.1718A>G (p.Tyr573Cys) c.1643A>G (p.Tyr548Cys) c.1640A>G (p.Tyr547Cys) c.1628A>G (p.Tyr543Cys) | ClinVar dbSNP |
11 | g.22262219A>T | CA379922676 | ANO5 | c.1271A>T (p.Tyr424Phe) c.1679A>T (p.Tyr560Phe) n.2715A>T c.1676A>T (p.Tyr559Phe) c.1721A>T (p.Tyr574Phe) n.2056A>T c.1718A>T (p.Tyr573Phe) c.1643A>T (p.Tyr548Phe) c.1640A>T (p.Tyr547Phe) c.1628A>T (p.Tyr543Phe) | |
11 | g.22262220C>A | CA379922678 | ANO5 | c.1272C>A (p.Tyr424Ter) c.1680C>A (p.Tyr560Ter) n.2716C>A c.1677C>A (p.Tyr559Ter) c.1722C>A (p.Tyr574Ter) n.2057C>A c.1719C>A (p.Tyr573Ter) c.1644C>A (p.Tyr548Ter) c.1641C>A (p.Tyr547Ter) c.1629C>A (p.Tyr543Ter) | COSMIC |
11 | g.22262220C= | CA1957419844 | ANO5 | c.1272C= (p.Tyr424=) c.1680C= (p.Tyr560=) n.2716C= c.1677C= (p.Tyr559=) c.1722C= (p.Tyr574=) n.2057C= c.1719C= (p.Tyr573=) c.1644C= (p.Tyr548=) c.1641C= (p.Tyr547=) c.1629C= (p.Tyr543=) | |
11 | g.22262220C>G | CA379922677 | ANO5 | c.1272C>G (p.Tyr424Ter) c.1680C>G (p.Tyr560Ter) n.2716C>G c.1677C>G (p.Tyr559Ter) c.1722C>G (p.Tyr574Ter) n.2057C>G c.1719C>G (p.Tyr573Ter) c.1644C>G (p.Tyr548Ter) c.1641C>G (p.Tyr547Ter) c.1629C>G (p.Tyr543Ter) | |
11 | g.22262220C>T | CA5923328 | ANO5 | c.1272C>T (p.Tyr424=) c.1680C>T (p.Tyr560=) n.2716C>T c.1677C>T (p.Tyr559=) c.1722C>T (p.Tyr574=) n.2057C>T c.1719C>T (p.Tyr573=) c.1644C>T (p.Tyr548=) c.1641C>T (p.Tyr547=) c.1629C>T (p.Tyr543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262221G>A | CA5923329 | ANO5 | c.1273G>A (p.Val425Ile) c.1681G>A (p.Val561Ile) n.2717G>A c.1678G>A (p.Val560Ile) c.1723G>A (p.Val575Ile) n.2058G>A c.1720G>A (p.Val574Ile) c.1645G>A (p.Val549Ile) c.1642G>A (p.Val548Ile) c.1630G>A (p.Val544Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262221G>C | CA379922679 | ANO5 | c.1273G>C (p.Val425Leu) c.1681G>C (p.Val561Leu) n.2717G>C c.1678G>C (p.Val560Leu) c.1723G>C (p.Val575Leu) n.2058G>C c.1720G>C (p.Val574Leu) c.1645G>C (p.Val549Leu) c.1642G>C (p.Val548Leu) c.1630G>C (p.Val544Leu) | |
11 | g.22262221G= | CA1957419845 | ANO5 | c.1273G= (p.Val425=) c.1681G= (p.Val561=) n.2717G= c.1678G= (p.Val560=) c.1723G= (p.Val575=) n.2058G= c.1720G= (p.Val574=) c.1645G= (p.Val549=) c.1642G= (p.Val548=) c.1630G= (p.Val544=) | |
11 | g.22262221G>T | CA5923330 | ANO5 | c.1273G>T (p.Val425Leu) c.1681G>T (p.Val561Leu) n.2717G>T c.1678G>T (p.Val560Leu) c.1723G>T (p.Val575Leu) n.2058G>T c.1720G>T (p.Val574Leu) c.1645G>T (p.Val549Leu) c.1642G>T (p.Val548Leu) c.1630G>T (p.Val544Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22262222T>A | CA379922680 | ANO5 | c.1274T>A (p.Val425Glu) c.1682T>A (p.Val561Glu) n.2718T>A c.1679T>A (p.Val560Glu) c.1724T>A (p.Val575Glu) n.2059T>A c.1721T>A (p.Val574Glu) c.1646T>A (p.Val549Glu) c.1643T>A (p.Val548Glu) c.1631T>A (p.Val544Glu) | |
11 | g.22262222T>C | CA379922681 | ANO5 | c.1274T>C (p.Val425Ala) c.1682T>C (p.Val561Ala) n.2718T>C c.1679T>C (p.Val560Ala) c.1724T>C (p.Val575Ala) n.2059T>C c.1721T>C (p.Val574Ala) c.1646T>C (p.Val549Ala) c.1643T>C (p.Val548Ala) c.1631T>C (p.Val544Ala) | |
11 | g.22262222T>G | CA379922682 | ANO5 | c.1274T>G (p.Val425Gly) c.1682T>G (p.Val561Gly) n.2718T>G c.1679T>G (p.Val560Gly) c.1724T>G (p.Val575Gly) n.2059T>G c.1721T>G (p.Val574Gly) c.1646T>G (p.Val549Gly) c.1643T>G (p.Val548Gly) c.1631T>G (p.Val544Gly) | |
11 | g.22262223A>C | CA473407253 | ANO5 | c.1275A>C (p.Val425=) c.1683A>C (p.Val561=) n.2719A>C c.1680A>C (p.Val560=) c.1725A>C (p.Val575=) n.2060A>C c.1722A>C (p.Val574=) c.1647A>C (p.Val549=) c.1644A>C (p.Val548=) c.1632A>C (p.Val544=) | |
11 | g.22262223A>G | CA473407254 | ANO5 | c.1275A>G (p.Val425=) c.1683A>G (p.Val561=) n.2719A>G c.1680A>G (p.Val560=) c.1725A>G (p.Val575=) n.2060A>G c.1722A>G (p.Val574=) c.1647A>G (p.Val549=) c.1644A>G (p.Val548=) c.1632A>G (p.Val544=) | |
11 | g.22262223A>T | CA473407255 | ANO5 | c.1275A>T (p.Val425=) c.1683A>T (p.Val561=) n.2719A>T c.1680A>T (p.Val560=) c.1725A>T (p.Val575=) n.2060A>T c.1722A>T (p.Val574=) c.1647A>T (p.Val549=) c.1644A>T (p.Val548=) c.1632A>T (p.Val544=) | COSMIC |
11 | g.22262224G>A | CA218768033 | ANO5 | c.1276G>A (p.Ala426Thr) c.1684G>A (p.Ala562Thr) n.2720G>A c.1681G>A (p.Ala561Thr) c.1726G>A (p.Ala576Thr) n.2061G>A c.1723G>A (p.Ala575Thr) c.1648G>A (p.Ala550Thr) c.1645G>A (p.Ala549Thr) c.1633G>A (p.Ala545Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22262224G>C | CA379922683 | ANO5 | c.1276G>C (p.Ala426Pro) c.1684G>C (p.Ala562Pro) n.2720G>C c.1681G>C (p.Ala561Pro) c.1726G>C (p.Ala576Pro) n.2061G>C c.1723G>C (p.Ala575Pro) c.1648G>C (p.Ala550Pro) c.1645G>C (p.Ala549Pro) c.1633G>C (p.Ala545Pro) | |
11 | g.22262224G= | CA1957419846 | ANO5 | c.1276G= (p.Ala426=) c.1684G= (p.Ala562=) n.2720G= c.1681G= (p.Ala561=) c.1726G= (p.Ala576=) n.2061G= c.1723G= (p.Ala575=) c.1648G= (p.Ala550=) c.1645G= (p.Ala549=) c.1633G= (p.Ala545=) | |
11 | g.22262224G>T | CA379922684 | ANO5 | c.1276G>T (p.Ala426Ser) c.1684G>T (p.Ala562Ser) n.2720G>T c.1681G>T (p.Ala561Ser) c.1726G>T (p.Ala576Ser) n.2061G>T c.1723G>T (p.Ala575Ser) c.1648G>T (p.Ala550Ser) c.1645G>T (p.Ala549Ser) c.1633G>T (p.Ala545Ser) | |
11 | g.22262225C>A | CA379922685 | ANO5 | c.1277C>A (p.Ala426Asp) c.1685C>A (p.Ala562Asp) n.2721C>A c.1682C>A (p.Ala561Asp) c.1727C>A (p.Ala576Asp) n.2062C>A c.1724C>A (p.Ala575Asp) c.1649C>A (p.Ala550Asp) c.1646C>A (p.Ala549Asp) c.1634C>A (p.Ala545Asp) | |
11 | g.22262225C>G | CA379922686 | ANO5 | c.1277C>G (p.Ala426Gly) c.1685C>G (p.Ala562Gly) n.2721C>G c.1682C>G (p.Ala561Gly) c.1727C>G (p.Ala576Gly) n.2062C>G c.1724C>G (p.Ala575Gly) c.1649C>G (p.Ala550Gly) c.1646C>G (p.Ala549Gly) c.1634C>G (p.Ala545Gly) | |
11 | g.22262225C>T | CA379922687 | ANO5 | c.1277C>T (p.Ala426Val) c.1685C>T (p.Ala562Val) n.2721C>T c.1682C>T (p.Ala561Val) c.1727C>T (p.Ala576Val) n.2062C>T c.1724C>T (p.Ala575Val) c.1649C>T (p.Ala550Val) c.1646C>T (p.Ala549Val) c.1634C>T (p.Ala545Val) | |
11 | g.22262226T>A | CA473407256 | ANO5 | c.1278T>A (p.Ala426=) c.1686T>A (p.Ala562=) n.2722T>A c.1683T>A (p.Ala561=) c.1728T>A (p.Ala576=) n.2063T>A c.1725T>A (p.Ala575=) c.1650T>A (p.Ala550=) c.1647T>A (p.Ala549=) c.1635T>A (p.Ala545=) | |
11 | g.22262226T>C | CA473407257 | ANO5 | c.1278T>C (p.Ala426=) c.1686T>C (p.Ala562=) n.2722T>C c.1683T>C (p.Ala561=) c.1728T>C (p.Ala576=) n.2063T>C c.1725T>C (p.Ala575=) c.1650T>C (p.Ala550=) c.1647T>C (p.Ala549=) c.1635T>C (p.Ala545=) | ClinVar dbSNP |
11 | g.22262226T>G | CA473407258 | ANO5 | c.1278T>G (p.Ala426=) c.1686T>G (p.Ala562=) n.2722T>G c.1683T>G (p.Ala561=) c.1728T>G (p.Ala576=) n.2063T>G c.1725T>G (p.Ala575=) c.1650T>G (p.Ala550=) c.1647T>G (p.Ala549=) c.1635T>G (p.Ala545=) | |
11 | g.22262227T>A | CA379922690 | ANO5 | c.1279T>A (p.Phe427Ile) c.1687T>A (p.Phe563Ile) n.2723T>A c.1684T>A (p.Phe562Ile) c.1729T>A (p.Phe577Ile) n.2064T>A c.1726T>A (p.Phe576Ile) c.1651T>A (p.Phe551Ile) c.1648T>A (p.Phe550Ile) c.1636T>A (p.Phe546Ile) | |
11 | g.22262227T>C | CA379922689 | ANO5 | c.1279T>C (p.Phe427Leu) c.1687T>C (p.Phe563Leu) n.2723T>C c.1684T>C (p.Phe562Leu) c.1729T>C (p.Phe577Leu) n.2064T>C c.1726T>C (p.Phe576Leu) c.1651T>C (p.Phe551Leu) c.1648T>C (p.Phe550Leu) c.1636T>C (p.Phe546Leu) | |
11 | g.22262227T>G | CA379922688 | ANO5 | c.1279T>G (p.Phe427Val) c.1687T>G (p.Phe563Val) n.2723T>G c.1684T>G (p.Phe562Val) c.1729T>G (p.Phe577Val) n.2064T>G c.1726T>G (p.Phe576Val) c.1651T>G (p.Phe551Val) c.1648T>G (p.Phe550Val) c.1636T>G (p.Phe546Val) | |
11 | g.22262228T>A | CA379922691 | ANO5 | c.1280T>A (p.Phe427Tyr) c.1688T>A (p.Phe563Tyr) n.2724T>A c.1685T>A (p.Phe562Tyr) c.1730T>A (p.Phe577Tyr) n.2065T>A c.1727T>A (p.Phe576Tyr) c.1652T>A (p.Phe551Tyr) c.1649T>A (p.Phe550Tyr) c.1637T>A (p.Phe546Tyr) | |
11 | g.22262228T>C | CA5923331 | ANO5 | c.1280T>C (p.Phe427Ser) c.1688T>C (p.Phe563Ser) n.2724T>C c.1685T>C (p.Phe562Ser) c.1730T>C (p.Phe577Ser) n.2065T>C c.1727T>C (p.Phe576Ser) c.1652T>C (p.Phe551Ser) c.1649T>C (p.Phe550Ser) c.1637T>C (p.Phe546Ser) | dbSNP ExAC gnomAD v2 |
11 | g.22262228T>G | CA379922692 | ANO5 | c.1280T>G (p.Phe427Cys) c.1688T>G (p.Phe563Cys) n.2724T>G c.1685T>G (p.Phe562Cys) c.1730T>G (p.Phe577Cys) n.2065T>G c.1727T>G (p.Phe576Cys) c.1652T>G (p.Phe551Cys) c.1649T>G (p.Phe550Cys) c.1637T>G (p.Phe546Cys) | |
11 | g.22262228T= | CA1957419847 | ANO5 | c.1280T= (p.Phe427=) c.1688T= (p.Phe563=) n.2724T= c.1685T= (p.Phe562=) c.1730T= (p.Phe577=) n.2065T= c.1727T= (p.Phe576=) c.1652T= (p.Phe551=) c.1649T= (p.Phe550=) c.1637T= (p.Phe546=) | |
11 | g.22262229C>A | CA379922693 | ANO5 | c.1281C>A (p.Phe427Leu) c.1689C>A (p.Phe563Leu) n.2725C>A c.1686C>A (p.Phe562Leu) c.1731C>A (p.Phe577Leu) n.2066C>A c.1728C>A (p.Phe576Leu) c.1653C>A (p.Phe551Leu) c.1650C>A (p.Phe550Leu) c.1638C>A (p.Phe546Leu) | |
11 | g.22262229C>G | CA379922694 | ANO5 | c.1281C>G (p.Phe427Leu) c.1689C>G (p.Phe563Leu) n.2725C>G c.1686C>G (p.Phe562Leu) c.1731C>G (p.Phe577Leu) n.2066C>G c.1728C>G (p.Phe576Leu) c.1653C>G (p.Phe551Leu) c.1650C>G (p.Phe550Leu) c.1638C>G (p.Phe546Leu) | |
11 | g.22262229C>T | CA473407259 | ANO5 | c.1281C>T (p.Phe427=) c.1689C>T (p.Phe563=) n.2725C>T c.1686C>T (p.Phe562=) c.1731C>T (p.Phe577=) n.2066C>T c.1728C>T (p.Phe576=) c.1653C>T (p.Phe551=) c.1650C>T (p.Phe550=) c.1638C>T (p.Phe546=) | |
11 | g.22262230T>A | CA379922695 | ANO5 | c.1282T>A (p.Phe428Ile) c.1690T>A (p.Phe564Ile) n.2726T>A c.1687T>A (p.Phe563Ile) c.1732T>A (p.Phe578Ile) n.2067T>A c.1729T>A (p.Phe577Ile) c.1654T>A (p.Phe552Ile) c.1651T>A (p.Phe551Ile) c.1639T>A (p.Phe547Ile) | |
11 | g.22262230T>C | CA379922696 | ANO5 | c.1282T>C (p.Phe428Leu) c.1690T>C (p.Phe564Leu) n.2726T>C c.1687T>C (p.Phe563Leu) c.1732T>C (p.Phe578Leu) n.2067T>C c.1729T>C (p.Phe577Leu) c.1654T>C (p.Phe552Leu) c.1651T>C (p.Phe551Leu) c.1639T>C (p.Phe547Leu) | |
11 | g.22262230T>G | CA379922697 | ANO5 | c.1282T>G (p.Phe428Val) c.1690T>G (p.Phe564Val) n.2726T>G c.1687T>G (p.Phe563Val) c.1732T>G (p.Phe578Val) n.2067T>G c.1729T>G (p.Phe577Val) c.1654T>G (p.Phe552Val) c.1651T>G (p.Phe551Val) c.1639T>G (p.Phe547Val) | |
11 | g.22262231T>A | CA379922698 | ANO5 | c.1283T>A (p.Phe428Tyr) c.1691T>A (p.Phe564Tyr) n.2727T>A c.1688T>A (p.Phe563Tyr) c.1733T>A (p.Phe578Tyr) n.2068T>A c.1730T>A (p.Phe577Tyr) c.1655T>A (p.Phe552Tyr) c.1652T>A (p.Phe551Tyr) c.1640T>A (p.Phe547Tyr) | |
11 | g.22262231T>C | CA232785 | ANO5 | c.1283T>C (p.Phe428Ser) c.1691T>C (p.Phe564Ser) n.2727T>C c.1688T>C (p.Phe563Ser) c.1733T>C (p.Phe578Ser) n.2068T>C c.1730T>C (p.Phe577Ser) c.1655T>C (p.Phe552Ser) c.1652T>C (p.Phe551Ser) c.1640T>C (p.Phe547Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22262231T>G | CA379922699 | ANO5 | c.1283T>G (p.Phe428Cys) c.1691T>G (p.Phe564Cys) n.2727T>G c.1688T>G (p.Phe563Cys) c.1733T>G (p.Phe578Cys) n.2068T>G c.1730T>G (p.Phe577Cys) c.1655T>G (p.Phe552Cys) c.1652T>G (p.Phe551Cys) c.1640T>G (p.Phe547Cys) | |
11 | g.22262231T= | CA1957419848 | ANO5 | c.1283T= (p.Phe428=) c.1691T= (p.Phe564=) n.2727T= c.1688T= (p.Phe563=) c.1733T= (p.Phe578=) n.2068T= c.1730T= (p.Phe577=) c.1655T= (p.Phe552=) c.1652T= (p.Phe551=) c.1640T= (p.Phe547=) | |
11 | g.22262232T>A | CA379922700 | ANO5 | c.1284T>A (p.Phe428Leu) c.1692T>A (p.Phe564Leu) n.2728T>A c.1689T>A (p.Phe563Leu) c.1734T>A (p.Phe578Leu) n.2069T>A c.1731T>A (p.Phe577Leu) c.1656T>A (p.Phe552Leu) c.1653T>A (p.Phe551Leu) c.1641T>A (p.Phe547Leu) | |
11 | g.22262232T>C | CA473407260 | ANO5 | c.1284T>C (p.Phe428=) c.1692T>C (p.Phe564=) n.2728T>C c.1689T>C (p.Phe563=) c.1734T>C (p.Phe578=) n.2069T>C c.1731T>C (p.Phe577=) c.1656T>C (p.Phe552=) c.1653T>C (p.Phe551=) c.1641T>C (p.Phe547=) | ClinVar |
11 | g.22262232T>G | CA379922701 | ANO5 | c.1284T>G (p.Phe428Leu) c.1692T>G (p.Phe564Leu) n.2728T>G c.1689T>G (p.Phe563Leu) c.1734T>G (p.Phe578Leu) n.2069T>G c.1731T>G (p.Phe577Leu) c.1656T>G (p.Phe552Leu) c.1653T>G (p.Phe551Leu) c.1641T>G (p.Phe547Leu) | |
11 | g.22262232T= | CA1957419849 | ANO5 | c.1284T= (p.Phe428=) c.1692T= (p.Phe564=) n.2728T= c.1689T= (p.Phe563=) c.1734T= (p.Phe578=) n.2069T= c.1731T= (p.Phe577=) c.1656T= (p.Phe552=) c.1653T= (p.Phe551=) c.1641T= (p.Phe547=) | |
11 | g.22262233A>C | CA379922702 | ANO5 | c.1285A>C (p.Lys429Gln) c.1693A>C (p.Lys565Gln) n.2729A>C c.1690A>C (p.Lys564Gln) c.1735A>C (p.Lys579Gln) n.2070A>C c.1732A>C (p.Lys578Gln) c.1657A>C (p.Lys553Gln) c.1654A>C (p.Lys552Gln) c.1642A>C (p.Lys548Gln) | |
11 | g.22262233A>G | CA379922704 | ANO5 | c.1285A>G (p.Lys429Glu) c.1693A>G (p.Lys565Glu) n.2729A>G c.1690A>G (p.Lys564Glu) c.1735A>G (p.Lys579Glu) n.2070A>G c.1732A>G (p.Lys578Glu) c.1657A>G (p.Lys553Glu) c.1654A>G (p.Lys552Glu) c.1642A>G (p.Lys548Glu) | gnomAD v4 |
11 | g.22262233A>T | CA379922703 | ANO5 | c.1285A>T (p.Lys429Ter) c.1693A>T (p.Lys565Ter) n.2729A>T c.1690A>T (p.Lys564Ter) c.1735A>T (p.Lys579Ter) n.2070A>T c.1732A>T (p.Lys578Ter) c.1657A>T (p.Lys553Ter) c.1654A>T (p.Lys552Ter) c.1642A>T (p.Lys548Ter) | |
11 | g.22262235dup | CA5923332 | ANO5 | c.1287dup (p.Gly430ArgfsTer15) c.1695dup (p.Gly566ArgfsTer15) n.2731dup c.1692dup (p.Gly565ArgfsTer15) c.1737dup (p.Gly580ArgfsTer15) n.2072dup c.1734dup (p.Gly579ArgfsTer15) c.1659dup (p.Gly554ArgfsTer15) c.1656dup (p.Gly553ArgfsTer15) c.1644dup (p.Gly549ArgfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22262234A= | CA1957419850 | ANO5 | c.1286A= (p.Lys429=) c.1694A= (p.Lys565=) n.2730A= c.1691A= (p.Lys564=) c.1736A= (p.Lys579=) n.2071A= c.1733A= (p.Lys578=) c.1658A= (p.Lys553=) c.1655A= (p.Lys552=) c.1643A= (p.Lys548=) | |
11 | g.22262234A>C | CA379922705 | ANO5 | c.1286A>C (p.Lys429Thr) c.1694A>C (p.Lys565Thr) n.2730A>C c.1691A>C (p.Lys564Thr) c.1736A>C (p.Lys579Thr) n.2071A>C c.1733A>C (p.Lys578Thr) c.1658A>C (p.Lys553Thr) c.1655A>C (p.Lys552Thr) c.1643A>C (p.Lys548Thr) | |
11 | g.22262234A>G | CA379922706 | ANO5 | c.1286A>G (p.Lys429Arg) c.1694A>G (p.Lys565Arg) n.2730A>G c.1691A>G (p.Lys564Arg) c.1736A>G (p.Lys579Arg) n.2071A>G c.1733A>G (p.Lys578Arg) c.1658A>G (p.Lys553Arg) c.1655A>G (p.Lys552Arg) c.1643A>G (p.Lys548Arg) | |
11 | g.22262234A>T | CA379922707 | ANO5 | c.1286A>T (p.Lys429Ile) c.1694A>T (p.Lys565Ile) n.2730A>T c.1691A>T (p.Lys564Ile) c.1736A>T (p.Lys579Ile) n.2071A>T c.1733A>T (p.Lys578Ile) c.1658A>T (p.Lys553Ile) c.1655A>T (p.Lys552Ile) c.1643A>T (p.Lys548Ile) | ClinVar dbSNP |
11 | g.22262235A>C | CA379922708 | ANO5 | c.1287A>C (p.Lys429Asn) c.1695A>C (p.Lys565Asn) n.2731A>C c.1692A>C (p.Lys564Asn) c.1737A>C (p.Lys579Asn) n.2072A>C c.1734A>C (p.Lys578Asn) c.1659A>C (p.Lys553Asn) c.1656A>C (p.Lys552Asn) c.1644A>C (p.Lys548Asn) | |
11 | g.22262235A>G | CA473407261 | ANO5 | c.1287A>G (p.Lys429=) c.1695A>G (p.Lys565=) n.2731A>G c.1692A>G (p.Lys564=) c.1737A>G (p.Lys579=) n.2072A>G c.1734A>G (p.Lys578=) c.1659A>G (p.Lys553=) c.1656A>G (p.Lys552=) c.1644A>G (p.Lys548=) | |
11 | g.22262235A>T | CA379922709 | ANO5 | c.1287A>T (p.Lys429Asn) c.1695A>T (p.Lys565Asn) n.2731A>T c.1692A>T (p.Lys564Asn) c.1737A>T (p.Lys579Asn) n.2072A>T c.1734A>T (p.Lys578Asn) c.1659A>T (p.Lys553Asn) c.1656A>T (p.Lys552Asn) c.1644A>T (p.Lys548Asn) | dbSNP |
11 | g.22262236G>A | CA379922710 | ANO5 | c.1288G>A (p.Gly430Arg) c.1696G>A (p.Gly566Arg) n.2732G>A c.1693G>A (p.Gly565Arg) c.1738G>A (p.Gly580Arg) n.2073G>A c.1735G>A (p.Gly579Arg) c.1660G>A (p.Gly554Arg) c.1657G>A (p.Gly553Arg) c.1645G>A (p.Gly549Arg) | gnomAD v4 |
11 | g.22262236G>C | CA379922711 | ANO5 | c.1288G>C (p.Gly430Arg) c.1696G>C (p.Gly566Arg) n.2732G>C c.1693G>C (p.Gly565Arg) c.1738G>C (p.Gly580Arg) n.2073G>C c.1735G>C (p.Gly579Arg) c.1660G>C (p.Gly554Arg) c.1657G>C (p.Gly553Arg) c.1645G>C (p.Gly549Arg) | |
11 | g.22262236G>T | CA379922712 | ANO5 | c.1288G>T (p.Gly430Trp) c.1696G>T (p.Gly566Trp) n.2732G>T c.1693G>T (p.Gly565Trp) c.1738G>T (p.Gly580Trp) n.2073G>T c.1735G>T (p.Gly579Trp) c.1660G>T (p.Gly554Trp) c.1657G>T (p.Gly553Trp) c.1645G>T (p.Gly549Trp) | |
11 | g.22262237G>A | CA379922713 | ANO5 | c.1289G>A (p.Gly430Glu) c.1697G>A (p.Gly566Glu) n.2733G>A c.1694G>A (p.Gly565Glu) c.1739G>A (p.Gly580Glu) n.2074G>A c.1736G>A (p.Gly579Glu) c.1661G>A (p.Gly554Glu) c.1658G>A (p.Gly553Glu) c.1646G>A (p.Gly549Glu) | |
11 | g.22262237G>C | CA379922714 | ANO5 | c.1289G>C (p.Gly430Ala) c.1697G>C (p.Gly566Ala) n.2733G>C c.1694G>C (p.Gly565Ala) c.1739G>C (p.Gly580Ala) n.2074G>C c.1736G>C (p.Gly579Ala) c.1661G>C (p.Gly554Ala) c.1658G>C (p.Gly553Ala) c.1646G>C (p.Gly549Ala) | |
11 | g.22262237G>T | CA379922715 | ANO5 | c.1289G>T (p.Gly430Val) c.1697G>T (p.Gly566Val) n.2733G>T c.1694G>T (p.Gly565Val) c.1739G>T (p.Gly580Val) n.2074G>T c.1736G>T (p.Gly579Val) c.1661G>T (p.Gly554Val) c.1658G>T (p.Gly553Val) c.1646G>T (p.Gly549Val) | |
11 | g.22262238G>A | CA473407262 | ANO5 | c.1290G>A (p.Gly430=) c.1698G>A (p.Gly566=) n.2734G>A c.1695G>A (p.Gly565=) c.1740G>A (p.Gly580=) n.2075G>A c.1737G>A (p.Gly579=) c.1662G>A (p.Gly554=) c.1659G>A (p.Gly553=) c.1647G>A (p.Gly549=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22262238G>C | CA473407263 | ANO5 | c.1290G>C (p.Gly430=) c.1698G>C (p.Gly566=) n.2734G>C c.1695G>C (p.Gly565=) c.1740G>C (p.Gly580=) n.2075G>C c.1737G>C (p.Gly579=) c.1662G>C (p.Gly554=) c.1659G>C (p.Gly553=) c.1647G>C (p.Gly549=) | |
11 | g.22262238G= | CA1957419851 | ANO5 | c.1290G= (p.Gly430=) c.1698G= (p.Gly566=) n.2734G= c.1695G= (p.Gly565=) c.1740G= (p.Gly580=) n.2075G= c.1737G= (p.Gly579=) c.1662G= (p.Gly554=) c.1659G= (p.Gly553=) c.1647G= (p.Gly549=) | |
11 | g.22262238G>T | CA473407264 | ANO5 | c.1290G>T (p.Gly430=) c.1698G>T (p.Gly566=) n.2734G>T c.1695G>T (p.Gly565=) c.1740G>T (p.Gly580=) n.2075G>T c.1737G>T (p.Gly579=) c.1662G>T (p.Gly554=) c.1659G>T (p.Gly553=) c.1647G>T (p.Gly549=) |