UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC | CA1737393925 | CFTR | c.1816_1900delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys606=) c.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1633_1717delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys545=) c.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1390_1474delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys464=) c.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC) c.1726_1810delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys576=) c.1906_1990delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys636=) c.1573_1657delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys525=) | |
| 7 | g.117591987_117592070dup | CA918111646 | CFTR | c.1820_1903dup (p.Gln634_Asn635insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*1534_*1617dup (n.*1534_*1617dup) c.1637_1720dup (p.Gln573_Asn574insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.*120_*203dup (n.*120_*203dup) c.*1644_*1727dup (n.*1644_*1727dup) c.1394_1477dup (p.Gln492_Asn493insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1402-10839_1402-10756dup (n.1402-10839_1402-10756dup) c.1730_1813dup (p.Gln604_Asn605insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1910_1993dup (p.Gln664_Asn665insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) c.1577_1660dup (p.Gln553_Asn554insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln) | dbSNP |
| 7 | g.117591987_117592070del | CA325542 | CFTR | c.1820_1903del (p.Met607_Gln634del) c.*1534_*1617del (n.*1534_*1617del) c.1637_1720del (p.Met546_Gln573del) c.*120_*203del (n.*120_*203del) c.*1644_*1727del (n.*1644_*1727del) c.1394_1477del (p.Met465_Gln492del) c.1402-10839_1402-10756del (n.1402-10839_1402-10756del) c.1730_1813del (p.Met577_Gln604del) c.1910_1993del (p.Met637_Gln664del) c.1577_1660del (p.Met526_Gln553del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592031G>A | CA368978503 | CFTR | c.1864G>A (p.Gly622Ser) c.*1578G>A (n.*1578G>A) c.1681G>A (p.Gly561Ser) c.*164G>A (n.*164G>A) c.*1688G>A (n.*1688G>A) c.1438G>A (p.Gly480Ser) c.1402-10795G>A (n.1402-10795G>A) c.1774G>A (p.Gly592Ser) c.1954G>A (p.Gly652Ser) c.1621G>A (p.Gly541Ser) | |
| 7 | g.117592031G>C | CA368978505 | CFTR | c.1864G>C (p.Gly622Arg) c.*1578G>C (n.*1578G>C) c.1681G>C (p.Gly561Arg) c.*164G>C (n.*164G>C) c.*1688G>C (n.*1688G>C) c.1438G>C (p.Gly480Arg) c.1402-10795G>C (n.1402-10795G>C) c.1774G>C (p.Gly592Arg) c.1954G>C (p.Gly652Arg) c.1621G>C (p.Gly541Arg) | |
| 7 | g.117592031G>T | CA368978508 | CFTR | c.1864G>T (p.Gly622Cys) c.*1578G>T (n.*1578G>T) c.1681G>T (p.Gly561Cys) c.*164G>T (n.*164G>T) c.*1688G>T (n.*1688G>T) c.1438G>T (p.Gly480Cys) c.1402-10795G>T (n.1402-10795G>T) c.1774G>T (p.Gly592Cys) c.1954G>T (p.Gly652Cys) c.1621G>T (p.Gly541Cys) | |
| 7 | g.117592032G>A | CA326704 | CFTR | c.1865G>A (p.Gly622Asp) c.*1579G>A (n.*1579G>A) c.1682G>A (p.Gly561Asp) c.*165G>A (n.*165G>A) c.*1689G>A (n.*1689G>A) c.1439G>A (p.Gly480Asp) c.1402-10794G>A (n.1402-10794G>A) c.1775G>A (p.Gly592Asp) c.1955G>A (p.Gly652Asp) c.1622G>A (p.Gly541Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592032G>C | CA368978514 | CFTR | c.1865G>C (p.Gly622Ala) c.*1579G>C (n.*1579G>C) c.1682G>C (p.Gly561Ala) c.*165G>C (n.*165G>C) c.*1689G>C (n.*1689G>C) c.1439G>C (p.Gly480Ala) c.1402-10794G>C (n.1402-10794G>C) c.1775G>C (p.Gly592Ala) c.1955G>C (p.Gly652Ala) c.1622G>C (p.Gly541Ala) | |
| 7 | g.117592032G= | CA1737394048 | CFTR | c.1865G= (p.Gly622=) c.*1579G= (n.*1579G=) c.1682G= (p.Gly561=) c.*165G= (n.*165G=) c.*1689G= (n.*1689G=) c.1439G= (p.Gly480=) c.1402-10794G= (n.1402-10794G=) c.1775G= (p.Gly592=) c.1955G= (p.Gly652=) c.1622G= (p.Gly541=) | |
| 7 | g.117592032G>T | CA368978513 | CFTR | c.1865G>T (p.Gly622Val) c.*1579G>T (n.*1579G>T) c.1682G>T (p.Gly561Val) c.*165G>T (n.*165G>T) c.*1689G>T (n.*1689G>T) c.1439G>T (p.Gly480Val) c.1402-10794G>T (n.1402-10794G>T) c.1775G>T (p.Gly592Val) c.1955G>T (p.Gly652Val) c.1622G>T (p.Gly541Val) | |
| 7 | g.117592033T>A | CA457448857 | CFTR | c.1866T>A (p.Gly622=) c.*1580T>A (n.*1580T>A) c.1683T>A (p.Gly561=) c.*166T>A (n.*166T>A) c.*1690T>A (n.*1690T>A) c.1440T>A (p.Gly480=) c.1402-10793T>A (n.1402-10793T>A) c.1776T>A (p.Gly592=) c.1956T>A (p.Gly652=) c.1623T>A (p.Gly541=) | |
| 7 | g.117592033T>C | CA457448859 | CFTR | c.1866T>C (p.Gly622=) c.*1580T>C (n.*1580T>C) c.1683T>C (p.Gly561=) c.*166T>C (n.*166T>C) c.*1690T>C (n.*1690T>C) c.1440T>C (p.Gly480=) c.1402-10793T>C (n.1402-10793T>C) c.1776T>C (p.Gly592=) c.1956T>C (p.Gly652=) c.1623T>C (p.Gly541=) | gnomAD v4 |
| 7 | g.117592033T>G | CA457448858 | CFTR | c.1866T>G (p.Gly622=) c.*1580T>G (n.*1580T>G) c.1683T>G (p.Gly561=) c.*166T>G (n.*166T>G) c.*1690T>G (n.*1690T>G) c.1440T>G (p.Gly480=) c.1402-10793T>G (n.1402-10793T>G) c.1776T>G (p.Gly592=) c.1956T>G (p.Gly652=) c.1623T>G (p.Gly541=) | |
| 7 | g.117592034A>C | CA368978518 | CFTR | c.1867A>C (p.Ser623Arg) c.*1581A>C (n.*1581A>C) c.1684A>C (p.Ser562Arg) c.*167A>C (n.*167A>C) c.*1691A>C (n.*1691A>C) c.1441A>C (p.Ser481Arg) c.1402-10792A>C (n.1402-10792A>C) c.1777A>C (p.Ser593Arg) c.1957A>C (p.Ser653Arg) c.1624A>C (p.Ser542Arg) | |
| 7 | g.117592034A>G | CA368978520 | CFTR | c.1867A>G (p.Ser623Gly) c.*1581A>G (n.*1581A>G) c.1684A>G (p.Ser562Gly) c.*167A>G (n.*167A>G) c.*1691A>G (n.*1691A>G) c.1441A>G (p.Ser481Gly) c.1402-10792A>G (n.1402-10792A>G) c.1777A>G (p.Ser593Gly) c.1957A>G (p.Ser653Gly) c.1624A>G (p.Ser542Gly) | |
| 7 | g.117592034A>T | CA368978523 | CFTR | c.1867A>T (p.Ser623Cys) c.*1581A>T (n.*1581A>T) c.1684A>T (p.Ser562Cys) c.*167A>T (n.*167A>T) c.*1691A>T (n.*1691A>T) c.1441A>T (p.Ser481Cys) c.1402-10792A>T (n.1402-10792A>T) c.1777A>T (p.Ser593Cys) c.1957A>T (p.Ser653Cys) c.1624A>T (p.Ser542Cys) | |
| 7 | g.117592034dup | CA2580076503 | CFTR | c.1867dup (p.Ser623LysfsTer19) c.*1581dup (n.*1581dup) c.1684dup (p.Ser562LysfsTer19) c.*167dup (n.*167dup) c.*1691dup (n.*1691dup) c.1441dup (p.Ser481LysfsTer19) c.1402-10792dup (n.1402-10792dup) c.1777dup (p.Ser593LysfsTer19) c.1957dup (p.Ser653LysfsTer19) c.1624dup (p.Ser542LysfsTer19) | ClinVar |
| 7 | g.117592034_117592036delinsG | CA2580076502 | CFTR | c.1867_1869delinsG (p.Ser623GlufsTer18) c.*1581_*1583delinsG (n.*1581_*1583delinsG) c.1684_1686delinsG (p.Ser562GlufsTer18) c.*167_*169delinsG (n.*167_*169delinsG) c.*1691_*1693delinsG (n.*1691_*1693delinsG) c.1441_1443delinsG (p.Ser481GlufsTer18) c.1402-10792_1402-10790delinsG (n.1402-10792_1402-10790delinsG) c.1777_1779delinsG (p.Ser593GlufsTer18) c.1957_1959delinsG (p.Ser653GlufsTer18) c.1624_1626delinsG (p.Ser542GlufsTer18) | ClinVar |
| 7 | g.117592035G>A | CA368978526 | CFTR | c.1868G>A (p.Ser623Asn) c.*1582G>A (n.*1582G>A) c.1685G>A (p.Ser562Asn) c.*168G>A (n.*168G>A) c.*1692G>A (n.*1692G>A) c.1442G>A (p.Ser481Asn) c.1402-10791G>A (n.1402-10791G>A) c.1778G>A (p.Ser593Asn) c.1958G>A (p.Ser653Asn) c.1625G>A (p.Ser542Asn) | |
| 7 | g.117592035G>C | CA368978528 | CFTR | c.1868G>C (p.Ser623Thr) c.*1582G>C (n.*1582G>C) c.1685G>C (p.Ser562Thr) c.*168G>C (n.*168G>C) c.*1692G>C (n.*1692G>C) c.1442G>C (p.Ser481Thr) c.1402-10791G>C (n.1402-10791G>C) c.1778G>C (p.Ser593Thr) c.1958G>C (p.Ser653Thr) c.1625G>C (p.Ser542Thr) | |
| 7 | g.117592035G>T | CA368978529 | CFTR | c.1868G>T (p.Ser623Ile) c.*1582G>T (n.*1582G>T) c.1685G>T (p.Ser562Ile) c.*168G>T (n.*168G>T) c.*1692G>T (n.*1692G>T) c.1442G>T (p.Ser481Ile) c.1402-10791G>T (n.1402-10791G>T) c.1778G>T (p.Ser593Ile) c.1958G>T (p.Ser653Ile) c.1625G>T (p.Ser542Ile) | |
| 7 | g.117592036C>A | CA368978530 | CFTR | c.1869C>A (p.Ser623Arg) c.*1583C>A (n.*1583C>A) c.1686C>A (p.Ser562Arg) c.*169C>A (n.*169C>A) c.*1693C>A (n.*1693C>A) c.1443C>A (p.Ser481Arg) c.1402-10790C>A (n.1402-10790C>A) c.1779C>A (p.Ser593Arg) c.1959C>A (p.Ser653Arg) c.1626C>A (p.Ser542Arg) | |
| 7 | g.117592036C>G | CA368978532 | CFTR | c.1869C>G (p.Ser623Arg) c.*1583C>G (n.*1583C>G) c.1686C>G (p.Ser562Arg) c.*169C>G (n.*169C>G) c.*1693C>G (n.*1693C>G) c.1443C>G (p.Ser481Arg) c.1402-10790C>G (n.1402-10790C>G) c.1779C>G (p.Ser593Arg) c.1959C>G (p.Ser653Arg) c.1626C>G (p.Ser542Arg) | |
| 7 | g.117592036C>T | CA457448860 | CFTR | c.1869C>T (p.Ser623=) c.*1583C>T (n.*1583C>T) c.1686C>T (p.Ser562=) c.*169C>T (n.*169C>T) c.*1693C>T (n.*1693C>T) c.1443C>T (p.Ser481=) c.1402-10790C>T (n.1402-10790C>T) c.1779C>T (p.Ser593=) c.1959C>T (p.Ser653=) c.1626C>T (p.Ser542=) | |
| 7 | g.117592037A>C | CA368978534 | CFTR | c.1870A>C (p.Ser624Arg) c.*1584A>C (n.*1584A>C) c.1687A>C (p.Ser563Arg) c.*170A>C (n.*170A>C) c.*1694A>C (n.*1694A>C) c.1444A>C (p.Ser482Arg) c.1402-10789A>C (n.1402-10789A>C) c.1780A>C (p.Ser594Arg) c.1960A>C (p.Ser654Arg) c.1627A>C (p.Ser543Arg) | |
| 7 | g.117592037A>G | CA368978536 | CFTR | c.1870A>G (p.Ser624Gly) c.*1584A>G (n.*1584A>G) c.1687A>G (p.Ser563Gly) c.*170A>G (n.*170A>G) c.*1694A>G (n.*1694A>G) c.1444A>G (p.Ser482Gly) c.1402-10789A>G (n.1402-10789A>G) c.1780A>G (p.Ser594Gly) c.1960A>G (p.Ser654Gly) c.1627A>G (p.Ser543Gly) | |
| 7 | g.117592037A>T | CA368978539 | CFTR | c.1870A>T (p.Ser624Cys) c.*1584A>T (n.*1584A>T) c.1687A>T (p.Ser563Cys) c.*170A>T (n.*170A>T) c.*1694A>T (n.*1694A>T) c.1444A>T (p.Ser482Cys) c.1402-10789A>T (n.1402-10789A>T) c.1780A>T (p.Ser594Cys) c.1960A>T (p.Ser654Cys) c.1627A>T (p.Ser543Cys) | ClinVar gnomAD v4 |
| 7 | g.117592037_117592045delinsAGCTATTTT | CA1737394053 | CFTR | c.1870_1878delinsAGCTATTTT (p.Ser624=) c.*1584_*1592delinsAGCTATTTT (n.*1584_*1592delinsAGCTATTTT) c.1687_1695delinsAGCTATTTT (p.Ser563=) c.*170_*178delinsAGCTATTTT (n.*170_*178delinsAGCTATTTT) c.*1694_*1702delinsAGCTATTTT (n.*1694_*1702delinsAGCTATTTT) c.1444_1452delinsAGCTATTTT (p.Ser482=) c.1402-10789_1402-10781delinsAGCTATTTT (n.1402-10789_1402-10781delinsAGCTATTTT) c.1780_1788delinsAGCTATTTT (p.Ser594=) c.1960_1968delinsAGCTATTTT (p.Ser654=) c.1627_1635delinsAGCTATTTT (p.Ser543=) | |
| 7 | g.117592038G>A | CA368978544 | CFTR | c.1871G>A (p.Ser624Asn) c.*1585G>A (n.*1585G>A) c.1688G>A (p.Ser563Asn) c.*171G>A (n.*171G>A) c.*1695G>A (n.*1695G>A) c.1445G>A (p.Ser482Asn) c.1402-10788G>A (n.1402-10788G>A) c.1781G>A (p.Ser594Asn) c.1961G>A (p.Ser654Asn) c.1628G>A (p.Ser543Asn) | gnomAD v4 |
| 7 | g.117592038G>C | CA368978543 | CFTR | c.1871G>C (p.Ser624Thr) c.*1585G>C (n.*1585G>C) c.1688G>C (p.Ser563Thr) c.*171G>C (n.*171G>C) c.*1695G>C (n.*1695G>C) c.1445G>C (p.Ser482Thr) c.1402-10788G>C (n.1402-10788G>C) c.1781G>C (p.Ser594Thr) c.1961G>C (p.Ser654Thr) c.1628G>C (p.Ser543Thr) | |
| 7 | g.117592038G>T | CA368978540 | CFTR | c.1871G>T (p.Ser624Ile) c.*1585G>T (n.*1585G>T) c.1688G>T (p.Ser563Ile) c.*171G>T (n.*171G>T) c.*1695G>T (n.*1695G>T) c.1445G>T (p.Ser482Ile) c.1402-10788G>T (n.1402-10788G>T) c.1781G>T (p.Ser594Ile) c.1961G>T (p.Ser654Ile) c.1628G>T (p.Ser543Ile) | |
| 7 | g.117592038_117592045del | CA577680762 | CFTR | c.1871_1878del (p.Ser624IlefsTer15) c.*1585_*1592del (n.*1585_*1592del) c.1688_1695del (p.Ser563IlefsTer15) c.*171_*178del (n.*171_*178del) c.*1695_*1702del (n.*1695_*1702del) c.1445_1452del (p.Ser482IlefsTer15) c.1402-10788_1402-10781del (n.1402-10788_1402-10781del) c.1781_1788del (p.Ser594IlefsTer15) c.1961_1968del (p.Ser654IlefsTer15) c.1628_1635del (p.Ser543IlefsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592039C>A | CA368978549 | CFTR | c.1872C>A (p.Ser624Arg) c.*1586C>A (n.*1586C>A) c.1689C>A (p.Ser563Arg) c.*172C>A (n.*172C>A) c.*1696C>A (n.*1696C>A) c.1446C>A (p.Ser482Arg) c.1402-10787C>A (n.1402-10787C>A) c.1782C>A (p.Ser594Arg) c.1962C>A (p.Ser654Arg) c.1629C>A (p.Ser543Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592039C= | CA1737394057 | CFTR | c.1872C= (p.Ser624=) c.*1586C= (n.*1586C=) c.1689C= (p.Ser563=) c.*172C= (n.*172C=) c.*1696C= (n.*1696C=) c.1446C= (p.Ser482=) c.1402-10787C= (n.1402-10787C=) c.1782C= (p.Ser594=) c.1962C= (p.Ser654=) c.1629C= (p.Ser543=) | |
| 7 | g.117592039C>G | CA368978548 | CFTR | c.1872C>G (p.Ser624Arg) c.*1586C>G (n.*1586C>G) c.1689C>G (p.Ser563Arg) c.*172C>G (n.*172C>G) c.*1696C>G (n.*1696C>G) c.1446C>G (p.Ser482Arg) c.1402-10787C>G (n.1402-10787C>G) c.1782C>G (p.Ser594Arg) c.1962C>G (p.Ser654Arg) c.1629C>G (p.Ser543Arg) | |
| 7 | g.117592039C>T | CA457448861 | CFTR | c.1872C>T (p.Ser624=) c.*1586C>T (n.*1586C>T) c.1689C>T (p.Ser563=) c.*172C>T (n.*172C>T) c.*1696C>T (n.*1696C>T) c.1446C>T (p.Ser482=) c.1402-10787C>T (n.1402-10787C>T) c.1782C>T (p.Ser594=) c.1962C>T (p.Ser654=) c.1629C>T (p.Ser543=) | |
| 7 | g.117592040T>A | CA4451108 | CFTR | c.1873T>A (p.Tyr625Asn) c.*1587T>A (n.*1587T>A) c.1690T>A (p.Tyr564Asn) c.*173T>A (n.*173T>A) c.*1697T>A (n.*1697T>A) c.1447T>A (p.Tyr483Asn) c.1402-10786T>A (n.1402-10786T>A) c.1783T>A (p.Tyr595Asn) c.1963T>A (p.Tyr655Asn) c.1630T>A (p.Tyr544Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117592040T>C | CA368978551 | CFTR | c.1873T>C (p.Tyr625His) c.*1587T>C (n.*1587T>C) c.1690T>C (p.Tyr564His) c.*173T>C (n.*173T>C) c.*1697T>C (n.*1697T>C) c.1447T>C (p.Tyr483His) c.1402-10786T>C (n.1402-10786T>C) c.1783T>C (p.Tyr595His) c.1963T>C (p.Tyr655His) c.1630T>C (p.Tyr544His) | |
| 7 | g.117592040T>G | CA368978553 | CFTR | c.1873T>G (p.Tyr625Asp) c.*1587T>G (n.*1587T>G) c.1690T>G (p.Tyr564Asp) c.*173T>G (n.*173T>G) c.*1697T>G (n.*1697T>G) c.1447T>G (p.Tyr483Asp) c.1402-10786T>G (n.1402-10786T>G) c.1783T>G (p.Tyr595Asp) c.1963T>G (p.Tyr655Asp) c.1630T>G (p.Tyr544Asp) | |
| 7 | g.117592040T= | CA1737394059 | CFTR | c.1873T= (p.Tyr625=) c.*1587T= (n.*1587T=) c.1690T= (p.Tyr564=) c.*173T= (n.*173T=) c.*1697T= (n.*1697T=) c.1447T= (p.Tyr483=) c.1402-10786T= (n.1402-10786T=) c.1783T= (p.Tyr595=) c.1963T= (p.Tyr655=) c.1630T= (p.Tyr544=) | |
| 7 | g.117592041A>C | CA368978555 | CFTR | c.1874A>C (p.Tyr625Ser) c.*1588A>C (n.*1588A>C) c.1691A>C (p.Tyr564Ser) c.*174A>C (n.*174A>C) c.*1698A>C (n.*1698A>C) c.1448A>C (p.Tyr483Ser) c.1402-10785A>C (n.1402-10785A>C) c.1784A>C (p.Tyr595Ser) c.1964A>C (p.Tyr655Ser) c.1631A>C (p.Tyr544Ser) | ClinVar |
| 7 | g.117592041A>G | CA368978557 | CFTR | c.1874A>G (p.Tyr625Cys) c.*1588A>G (n.*1588A>G) c.1691A>G (p.Tyr564Cys) c.*174A>G (n.*174A>G) c.*1698A>G (n.*1698A>G) c.1448A>G (p.Tyr483Cys) c.1402-10785A>G (n.1402-10785A>G) c.1784A>G (p.Tyr595Cys) c.1964A>G (p.Tyr655Cys) c.1631A>G (p.Tyr544Cys) | gnomAD v4 |
| 7 | g.117592041A>T | CA368978559 | CFTR | c.1874A>T (p.Tyr625Phe) c.*1588A>T (n.*1588A>T) c.1691A>T (p.Tyr564Phe) c.*174A>T (n.*174A>T) c.*1698A>T (n.*1698A>T) c.1448A>T (p.Tyr483Phe) c.1402-10785A>T (n.1402-10785A>T) c.1784A>T (p.Tyr595Phe) c.1964A>T (p.Tyr655Phe) c.1631A>T (p.Tyr544Phe) | |
| 7 | g.117592042T>A | CA368978562 | CFTR | c.1875T>A (p.Tyr625Ter) c.*1589T>A (n.*1589T>A) c.1692T>A (p.Tyr564Ter) c.*175T>A (n.*175T>A) c.*1699T>A (n.*1699T>A) c.1449T>A (p.Tyr483Ter) c.1402-10784T>A (n.1402-10784T>A) c.1785T>A (p.Tyr595Ter) c.1965T>A (p.Tyr655Ter) c.1632T>A (p.Tyr544Ter) | |
| 7 | g.117592042T>C | CA457448862 | CFTR | c.1875T>C (p.Tyr625=) c.*1589T>C (n.*1589T>C) c.1692T>C (p.Tyr564=) c.*175T>C (n.*175T>C) c.*1699T>C (n.*1699T>C) c.1449T>C (p.Tyr483=) c.1402-10784T>C (n.1402-10784T>C) c.1785T>C (p.Tyr595=) c.1965T>C (p.Tyr655=) c.1632T>C (p.Tyr544=) | ClinVar dbSNP |
| 7 | g.117592042T>G | CA368978564 | CFTR | c.1875T>G (p.Tyr625Ter) c.*1589T>G (n.*1589T>G) c.1692T>G (p.Tyr564Ter) c.*175T>G (n.*175T>G) c.*1699T>G (n.*1699T>G) c.1449T>G (p.Tyr483Ter) c.1402-10784T>G (n.1402-10784T>G) c.1785T>G (p.Tyr595Ter) c.1965T>G (p.Tyr655Ter) c.1632T>G (p.Tyr544Ter) | |
| 7 | g.117592044_117592046del | CA2684619354 | CFTR | c.1877_1879del (p.Phe626del) c.*1591_*1593del (n.*1591_*1593del) c.1694_1696del (p.Phe565del) c.*177_*179del (n.*177_*179del) c.*1701_*1703del (n.*1701_*1703del) c.1451_1453del (p.Phe484del) c.1402-10782_1402-10780del (n.1402-10782_1402-10780del) c.1787_1789del (p.Phe596del) c.1967_1969del (p.Phe656del) c.1634_1636del (p.Phe545del) | gnomAD v4 |
| 7 | g.117592043T>A | CA368978570 | CFTR | c.1876T>A (p.Phe626Ile) c.*1590T>A (n.*1590T>A) c.1693T>A (p.Phe565Ile) c.*176T>A (n.*176T>A) c.*1700T>A (n.*1700T>A) c.1450T>A (p.Phe484Ile) c.1402-10783T>A (n.1402-10783T>A) c.1786T>A (p.Phe596Ile) c.1966T>A (p.Phe656Ile) c.1633T>A (p.Phe545Ile) | |
| 7 | g.117592043T>C | CA368978572 | CFTR | c.1876T>C (p.Phe626Leu) c.*1590T>C (n.*1590T>C) c.1693T>C (p.Phe565Leu) c.*176T>C (n.*176T>C) c.*1700T>C (n.*1700T>C) c.1450T>C (p.Phe484Leu) c.1402-10783T>C (n.1402-10783T>C) c.1786T>C (p.Phe596Leu) c.1966T>C (p.Phe656Leu) c.1633T>C (p.Phe545Leu) |