| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262129_22262131del | CA2612838421 | ANO5 | c.1181_1183del (p.Glu394_Ile395delinsVal) c.1589_1591del (p.Glu530_Ile531delinsVal) n.2625_2627del c.1586_1588del (p.Glu529_Ile530delinsVal) c.1631_1633del (p.Glu544_Ile545delinsVal) n.1966_1968del c.1628_1630del (p.Glu543_Ile544delinsVal) c.1553_1555del (p.Glu518_Ile519delinsVal) c.1550_1552del (p.Glu517_Ile518delinsVal) c.1538_1540del (p.Glu513_Ile514delinsVal) | gnomAD v4 |
| 11 | g.22262131A= | CA1957419808 | ANO5 | c.1183A= (p.Ile395=) c.1591A= (p.Ile531=) n.2627A= c.1588A= (p.Ile530=) c.1633A= (p.Ile545=) n.1968A= c.1630A= (p.Ile544=) c.1555A= (p.Ile519=) c.1552A= (p.Ile518=) c.1540A= (p.Ile514=) | |
| 11 | g.22262131A>C | CA379922474 | ANO5 | c.1183A>C (p.Ile395Leu) c.1591A>C (p.Ile531Leu) n.2627A>C c.1588A>C (p.Ile530Leu) c.1633A>C (p.Ile545Leu) n.1968A>C c.1630A>C (p.Ile544Leu) c.1555A>C (p.Ile519Leu) c.1552A>C (p.Ile518Leu) c.1540A>C (p.Ile514Leu) | |
| 11 | g.22262131A>G | CA379922472 | ANO5 | c.1183A>G (p.Ile395Val) c.1591A>G (p.Ile531Val) n.2627A>G c.1588A>G (p.Ile530Val) c.1633A>G (p.Ile545Val) n.1968A>G c.1630A>G (p.Ile544Val) c.1555A>G (p.Ile519Val) c.1552A>G (p.Ile518Val) c.1540A>G (p.Ile514Val) | |
| 11 | g.22262131A>T | CA379922473 | ANO5 | c.1183A>T (p.Ile395Phe) c.1591A>T (p.Ile531Phe) n.2627A>T c.1588A>T (p.Ile530Phe) c.1633A>T (p.Ile545Phe) n.1968A>T c.1630A>T (p.Ile544Phe) c.1555A>T (p.Ile519Phe) c.1552A>T (p.Ile518Phe) c.1540A>T (p.Ile514Phe) | dbSNP gnomAD v4 |
| 11 | g.22262132T>A | CA379922475 | ANO5 | c.1184T>A (p.Ile395Asn) c.1592T>A (p.Ile531Asn) n.2628T>A c.1589T>A (p.Ile530Asn) c.1634T>A (p.Ile545Asn) n.1969T>A c.1631T>A (p.Ile544Asn) c.1556T>A (p.Ile519Asn) c.1553T>A (p.Ile518Asn) c.1541T>A (p.Ile514Asn) | |
| 11 | g.22262132T>C | CA379922476 | ANO5 | c.1184T>C (p.Ile395Thr) c.1592T>C (p.Ile531Thr) n.2628T>C c.1589T>C (p.Ile530Thr) c.1634T>C (p.Ile545Thr) n.1969T>C c.1631T>C (p.Ile544Thr) c.1556T>C (p.Ile519Thr) c.1553T>C (p.Ile518Thr) c.1541T>C (p.Ile514Thr) | |
| 11 | g.22262132T>G | CA379922477 | ANO5 | c.1184T>G (p.Ile395Ser) c.1592T>G (p.Ile531Ser) n.2628T>G c.1589T>G (p.Ile530Ser) c.1634T>G (p.Ile545Ser) n.1969T>G c.1631T>G (p.Ile544Ser) c.1556T>G (p.Ile519Ser) c.1553T>G (p.Ile518Ser) c.1541T>G (p.Ile514Ser) | |
| 11 | g.22262133T>A | CA473407210 | ANO5 | c.1185T>A (p.Ile395=) c.1593T>A (p.Ile531=) n.2629T>A c.1590T>A (p.Ile530=) c.1635T>A (p.Ile545=) n.1970T>A c.1632T>A (p.Ile544=) c.1557T>A (p.Ile519=) c.1554T>A (p.Ile518=) c.1542T>A (p.Ile514=) | |
| 11 | g.22262133T>C | CA473407209 | ANO5 | c.1185T>C (p.Ile395=) c.1593T>C (p.Ile531=) n.2629T>C c.1590T>C (p.Ile530=) c.1635T>C (p.Ile545=) n.1970T>C c.1632T>C (p.Ile544=) c.1557T>C (p.Ile519=) c.1554T>C (p.Ile518=) c.1542T>C (p.Ile514=) | |
| 11 | g.22262133T>G | CA379922478 | ANO5 | c.1185T>G (p.Ile395Met) c.1593T>G (p.Ile531Met) n.2629T>G c.1590T>G (p.Ile530Met) c.1635T>G (p.Ile545Met) n.1970T>G c.1632T>G (p.Ile544Met) c.1557T>G (p.Ile519Met) c.1554T>G (p.Ile518Met) c.1542T>G (p.Ile514Met) | |
| 11 | g.22262134C>A | CA379922479 | ANO5 | c.1186C>A (p.Pro396Thr) c.1594C>A (p.Pro532Thr) n.2630C>A c.1591C>A (p.Pro531Thr) c.1636C>A (p.Pro546Thr) n.1971C>A c.1633C>A (p.Pro545Thr) c.1558C>A (p.Pro520Thr) c.1555C>A (p.Pro519Thr) c.1543C>A (p.Pro515Thr) | ClinVar dbSNP COSMIC |
| 11 | g.22262134C>G | CA379922480 | ANO5 | c.1186C>G (p.Pro396Ala) c.1594C>G (p.Pro532Ala) n.2630C>G c.1591C>G (p.Pro531Ala) c.1636C>G (p.Pro546Ala) n.1971C>G c.1633C>G (p.Pro545Ala) c.1558C>G (p.Pro520Ala) c.1555C>G (p.Pro519Ala) c.1543C>G (p.Pro515Ala) | |
| 11 | g.22262134C>T | CA379922481 | ANO5 | c.1186C>T (p.Pro396Ser) c.1594C>T (p.Pro532Ser) n.2630C>T c.1591C>T (p.Pro531Ser) c.1636C>T (p.Pro546Ser) n.1971C>T c.1633C>T (p.Pro545Ser) c.1558C>T (p.Pro520Ser) c.1555C>T (p.Pro519Ser) c.1543C>T (p.Pro515Ser) | COSMIC |
| 11 | g.22262135C>A | CA379922482 | ANO5 | c.1187C>A (p.Pro396His) c.1595C>A (p.Pro532His) n.2631C>A c.1592C>A (p.Pro531His) c.1637C>A (p.Pro546His) n.1972C>A c.1634C>A (p.Pro545His) c.1559C>A (p.Pro520His) c.1556C>A (p.Pro519His) c.1544C>A (p.Pro515His) | COSMIC |
| 11 | g.22262135C>G | CA379922483 | ANO5 | c.1187C>G (p.Pro396Arg) c.1595C>G (p.Pro532Arg) n.2631C>G c.1592C>G (p.Pro531Arg) c.1637C>G (p.Pro546Arg) n.1972C>G c.1634C>G (p.Pro545Arg) c.1559C>G (p.Pro520Arg) c.1556C>G (p.Pro519Arg) c.1544C>G (p.Pro515Arg) | |
| 11 | g.22262135C>T | CA379922484 | ANO5 | c.1187C>T (p.Pro396Leu) c.1595C>T (p.Pro532Leu) n.2631C>T c.1592C>T (p.Pro531Leu) c.1637C>T (p.Pro546Leu) n.1972C>T c.1634C>T (p.Pro545Leu) c.1559C>T (p.Pro520Leu) c.1556C>T (p.Pro519Leu) c.1544C>T (p.Pro515Leu) | |
| 11 | g.22262136T>A | CA473407211 | ANO5 | c.1188T>A (p.Pro396=) c.1596T>A (p.Pro532=) n.2632T>A c.1593T>A (p.Pro531=) c.1638T>A (p.Pro546=) n.1973T>A c.1635T>A (p.Pro545=) c.1560T>A (p.Pro520=) c.1557T>A (p.Pro519=) c.1545T>A (p.Pro515=) | |
| 11 | g.22262136T>C | CA473407212 | ANO5 | c.1188T>C (p.Pro396=) c.1596T>C (p.Pro532=) n.2632T>C c.1593T>C (p.Pro531=) c.1638T>C (p.Pro546=) n.1973T>C c.1635T>C (p.Pro545=) c.1560T>C (p.Pro520=) c.1557T>C (p.Pro519=) c.1545T>C (p.Pro515=) | |
| 11 | g.22262136T>G | CA473407213 | ANO5 | c.1188T>G (p.Pro396=) c.1596T>G (p.Pro532=) n.2632T>G c.1593T>G (p.Pro531=) c.1638T>G (p.Pro546=) n.1973T>G c.1635T>G (p.Pro545=) c.1560T>G (p.Pro520=) c.1557T>G (p.Pro519=) c.1545T>G (p.Pro515=) | |
| 11 | g.22262137C>A | CA473407214 | ANO5 | c.1189C>A (p.Arg397=) c.1597C>A (p.Arg533=) n.2633C>A c.1594C>A (p.Arg532=) c.1639C>A (p.Arg547=) n.1974C>A c.1636C>A (p.Arg546=) c.1561C>A (p.Arg521=) c.1558C>A (p.Arg520=) c.1546C>A (p.Arg516=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22262137C= | CA1957419809 | ANO5 | c.1189C= (p.Arg397=) c.1597C= (p.Arg533=) n.2633C= c.1594C= (p.Arg532=) c.1639C= (p.Arg547=) n.1974C= c.1636C= (p.Arg546=) c.1561C= (p.Arg521=) c.1558C= (p.Arg520=) c.1546C= (p.Arg516=) | |
| 11 | g.22262137C>G | CA379922485 | ANO5 | c.1189C>G (p.Arg397Gly) c.1597C>G (p.Arg533Gly) n.2633C>G c.1594C>G (p.Arg532Gly) c.1639C>G (p.Arg547Gly) n.1974C>G c.1636C>G (p.Arg546Gly) c.1561C>G (p.Arg521Gly) c.1558C>G (p.Arg520Gly) c.1546C>G (p.Arg516Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22262137C>T | CA5923315 | ANO5 | c.1189C>T (p.Arg397Ter) c.1597C>T (p.Arg533Ter) n.2633C>T c.1594C>T (p.Arg532Ter) c.1639C>T (p.Arg547Ter) n.1974C>T c.1636C>T (p.Arg546Ter) c.1561C>T (p.Arg521Ter) c.1558C>T (p.Arg520Ter) c.1546C>T (p.Arg516Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) |