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.117592223T>A | CA368979467 | CFTR | c.2056T>A (p.Ser686Thr) c.*1770T>A (n.*1770T>A) c.1873T>A (p.Ser625Thr) c.*356T>A (n.*356T>A) c.*1880T>A (n.*1880T>A) c.1630T>A (p.Ser544Thr) c.1402-10603T>A (n.1402-10603T>A) c.1966T>A (p.Ser656Thr) c.2146T>A (p.Ser716Thr) c.1813T>A (p.Ser605Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592223T>C | CA368979469 | CFTR | c.2056T>C (p.Ser686Pro) c.*1770T>C (n.*1770T>C) c.1873T>C (p.Ser625Pro) c.*356T>C (n.*356T>C) c.*1880T>C (n.*1880T>C) c.1630T>C (p.Ser544Pro) c.1402-10603T>C (n.1402-10603T>C) c.1966T>C (p.Ser656Pro) c.2146T>C (p.Ser716Pro) c.1813T>C (p.Ser605Pro) | |
| 7 | g.117592223T>G | CA368979471 | CFTR | c.2056T>G (p.Ser686Ala) c.*1770T>G (n.*1770T>G) c.1873T>G (p.Ser625Ala) c.*356T>G (n.*356T>G) c.*1880T>G (n.*1880T>G) c.1630T>G (p.Ser544Ala) c.1402-10603T>G (n.1402-10603T>G) c.1966T>G (p.Ser656Ala) c.2146T>G (p.Ser716Ala) c.1813T>G (p.Ser605Ala) | |
| 7 | g.117592223T= | CA1737394663 | CFTR | c.2056T= (p.Ser686=) c.*1770T= (n.*1770T=) c.1873T= (p.Ser625=) c.*356T= (n.*356T=) c.*1880T= (n.*1880T=) c.1630T= (p.Ser544=) c.1402-10603T= (n.1402-10603T=) c.1966T= (p.Ser656=) c.2146T= (p.Ser716=) c.1813T= (p.Ser605=) | |
| 7 | g.117592224del | CA2684619357 | CFTR | c.2057del (p.Ser686PhefsTer?) c.*1771del (n.*1771del) c.1874del (p.Ser625PhefsTer?) c.*357del (n.*357del) c.*1881del (n.*1881del) c.1631del (p.Ser544PhefsTer?) c.1402-10602del (n.1402-10602del) c.1967del (p.Ser656PhefsTer?) c.2147del (p.Ser716PhefsTer?) c.1814del (p.Ser605PhefsTer?) | gnomAD v4 |
| 7 | g.117592224C>A | CA4451135 | CFTR | c.2057C>A (p.Ser686Tyr) c.*1771C>A (n.*1771C>A) c.1874C>A (p.Ser625Tyr) c.*357C>A (n.*357C>A) c.*1881C>A (n.*1881C>A) c.1631C>A (p.Ser544Tyr) c.1402-10602C>A (n.1402-10602C>A) c.1967C>A (p.Ser656Tyr) c.2147C>A (p.Ser716Tyr) c.1814C>A (p.Ser605Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592224C= | CA1737394669 | CFTR | c.2057C= (p.Ser686=) c.*1771C= (n.*1771C=) c.1874C= (p.Ser625=) c.*357C= (n.*357C=) c.*1881C= (n.*1881C=) c.1631C= (p.Ser544=) c.1402-10602C= (n.1402-10602C=) c.1967C= (p.Ser656=) c.2147C= (p.Ser716=) c.1814C= (p.Ser605=) | |
| 7 | g.117592224C>G | CA368979475 | CFTR | c.2057C>G (p.Ser686Cys) c.*1771C>G (n.*1771C>G) c.1874C>G (p.Ser625Cys) c.*357C>G (n.*357C>G) c.*1881C>G (n.*1881C>G) c.1631C>G (p.Ser544Cys) c.1402-10602C>G (n.1402-10602C>G) c.1967C>G (p.Ser656Cys) c.2147C>G (p.Ser716Cys) c.1814C>G (p.Ser605Cys) | |
| 7 | g.117592224C>T | CA368979476 | CFTR | c.2057C>T (p.Ser686Phe) c.*1771C>T (n.*1771C>T) c.1874C>T (p.Ser625Phe) c.*357C>T (n.*357C>T) c.*1881C>T (n.*1881C>T) c.1631C>T (p.Ser544Phe) c.1402-10602C>T (n.1402-10602C>T) c.1967C>T (p.Ser656Phe) c.2147C>T (p.Ser716Phe) c.1814C>T (p.Ser605Phe) | |
| 7 | g.117592224_117592225delinsA | CA2695208507 | CFTR | c.2057_2058delinsA (p.Ser686TyrfsTer?) c.*1771_*1772delinsA (n.*1771_*1772delinsA) c.1874_1875delinsA (p.Ser625TyrfsTer?) c.*357_*358delinsA (n.*357_*358delinsA) c.*1881_*1882delinsA (n.*1881_*1882delinsA) c.1631_1632delinsA (p.Ser544TyrfsTer?) c.1402-10602_1402-10601delinsA (n.1402-10602_1402-10601delinsA) c.1967_1968delinsA (p.Ser656TyrfsTer?) c.2147_2148delinsA (p.Ser716TyrfsTer?) c.1814_1815delinsA (p.Ser605TyrfsTer?) | |
| 7 | g.117592224_117592225delinsCT | CA1737394673 | CFTR | c.2057_2058delinsCT (p.Ser686=) c.*1771_*1772delinsCT (n.*1771_*1772delinsCT) c.1874_1875delinsCT (p.Ser625=) c.*357_*358delinsCT (n.*357_*358delinsCT) c.*1881_*1882delinsCT (n.*1881_*1882delinsCT) c.1631_1632delinsCT (p.Ser544=) c.1402-10602_1402-10601delinsCT (n.1402-10602_1402-10601delinsCT) c.1967_1968delinsCT (p.Ser656=) c.2147_2148delinsCT (p.Ser716=) c.1814_1815delinsCT (p.Ser605=) | |
| 7 | g.117592224_117592225insA | CA2695208509 | CFTR | c.2057_2058insA (p.Lys688Ter) c.*1771_*1772insA (n.*1771_*1772insA) c.1874_1875insA (p.Lys627Ter) c.*357_*358insA (n.*357_*358insA) c.*1881_*1882insA (n.*1881_*1882insA) c.1631_1632insA (p.Lys546Ter) c.1402-10602_1402-10601insA (n.1402-10602_1402-10601insA) c.1967_1968insA (p.Lys658Ter) c.2147_2148insA (p.Lys718Ter) c.1814_1815insA (p.Lys607Ter) | |
| 7 | g.117592225T>A | CA457449023 | CFTR | c.2058T>A (p.Ser686=) c.*1772T>A (n.*1772T>A) c.1875T>A (p.Ser625=) c.*358T>A (n.*358T>A) c.*1882T>A (n.*1882T>A) c.1632T>A (p.Ser544=) c.1402-10601T>A (n.1402-10601T>A) c.1968T>A (p.Ser656=) c.2148T>A (p.Ser716=) c.1815T>A (p.Ser605=) | gnomAD v4 |
| 7 | g.117592225T>C | CA457449024 | CFTR | c.2058T>C (p.Ser686=) c.*1772T>C (n.*1772T>C) c.1875T>C (p.Ser625=) c.*358T>C (n.*358T>C) c.*1882T>C (n.*1882T>C) c.1632T>C (p.Ser544=) c.1402-10601T>C (n.1402-10601T>C) c.1968T>C (p.Ser656=) c.2148T>C (p.Ser716=) c.1815T>C (p.Ser605=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117592225T>G | CA457449025 | CFTR | c.2058T>G (p.Ser686=) c.*1772T>G (n.*1772T>G) c.1875T>G (p.Ser625=) c.*358T>G (n.*358T>G) c.*1882T>G (n.*1882T>G) c.1632T>G (p.Ser544=) c.1402-10601T>G (n.1402-10601T>G) c.1968T>G (p.Ser656=) c.2148T>G (p.Ser716=) c.1815T>G (p.Ser605=) | ClinVar dbSNP |
| 7 | g.117592225T= | CA1737394677 | CFTR | c.2058T= (p.Ser686=) c.*1772T= (n.*1772T=) c.1875T= (p.Ser625=) c.*358T= (n.*358T=) c.*1882T= (n.*1882T=) c.1632T= (p.Ser544=) c.1402-10601T= (n.1402-10601T=) c.1968T= (p.Ser656=) c.2148T= (p.Ser716=) c.1815T= (p.Ser605=) | |
| 7 | g.117592225_117592228del | CA2695208510 | CFTR | c.2058_2061del (p.Phe687AsnfsTer?) c.*1772_*1775del (n.*1772_*1775del) c.1875_1878del (p.Phe626AsnfsTer?) c.*358_*361del (n.*358_*361del) c.*1882_*1885del (n.*1882_*1885del) c.1632_1635del (p.Phe545AsnfsTer?) c.1402-10601_1402-10598del (n.1402-10601_1402-10598del) c.1968_1971del (p.Phe657AsnfsTer?) c.2148_2151del (p.Phe717AsnfsTer?) c.1815_1818del (p.Phe606AsnfsTer?) | |
| 7 | g.117592225_117592228dup | CA2695208508 | CFTR | c.2058_2061dup (p.Lys688PhefsTer2) c.*1772_*1775dup (n.*1772_*1775dup) c.1875_1878dup (p.Lys627PhefsTer2) c.*358_*361dup (n.*358_*361dup) c.*1882_*1885dup (n.*1882_*1885dup) c.1632_1635dup (p.Lys546PhefsTer2) c.1402-10601_1402-10598dup (n.1402-10601_1402-10598dup) c.1968_1971dup (p.Lys658PhefsTer2) c.2148_2151dup (p.Lys718PhefsTer2) c.1815_1818dup (p.Lys607PhefsTer2) | ClinVar |
| 7 | g.117592228del | CA577680765 | CFTR | c.2061del (p.Phe687LeufsTer?) c.*1775del (n.*1775del) c.1878del (p.Phe626LeufsTer?) c.*361del (n.*361del) c.*1885del (n.*1885del) c.1635del (p.Phe545LeufsTer?) c.1402-10598del (n.1402-10598del) c.1971del (p.Phe657LeufsTer?) c.2151del (p.Phe717LeufsTer?) c.1818del (p.Phe606LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592226T>A | CA368979480 | CFTR | c.2059T>A (p.Phe687Ile) c.*1773T>A (n.*1773T>A) c.1876T>A (p.Phe626Ile) c.*359T>A (n.*359T>A) c.*1883T>A (n.*1883T>A) c.1633T>A (p.Phe545Ile) c.1402-10600T>A (n.1402-10600T>A) c.1969T>A (p.Phe657Ile) c.2149T>A (p.Phe717Ile) c.1816T>A (p.Phe606Ile) | |
| 7 | g.117592226T>C | CA164947754 | CFTR | c.2059T>C (p.Phe687Leu) c.*1773T>C (n.*1773T>C) c.1876T>C (p.Phe626Leu) c.*359T>C (n.*359T>C) c.*1883T>C (n.*1883T>C) c.1633T>C (p.Phe545Leu) c.1402-10600T>C (n.1402-10600T>C) c.1969T>C (p.Phe657Leu) c.2149T>C (p.Phe717Leu) c.1816T>C (p.Phe606Leu) | dbSNP |
| 7 | g.117592226T>G | CA368979483 | CFTR | c.2059T>G (p.Phe687Val) c.*1773T>G (n.*1773T>G) c.1876T>G (p.Phe626Val) c.*359T>G (n.*359T>G) c.*1883T>G (n.*1883T>G) c.1633T>G (p.Phe545Val) c.1402-10600T>G (n.1402-10600T>G) c.1969T>G (p.Phe657Val) c.2149T>G (p.Phe717Val) c.1816T>G (p.Phe606Val) | |
| 7 | g.117592226T= | CA1737394681 | CFTR | c.2059T= (p.Phe687=) c.*1773T= (n.*1773T=) c.1876T= (p.Phe626=) c.*359T= (n.*359T=) c.*1883T= (n.*1883T=) c.1633T= (p.Phe545=) c.1402-10600T= (n.1402-10600T=) c.1969T= (p.Phe657=) c.2149T= (p.Phe717=) c.1816T= (p.Phe606=) | |
| 7 | g.117592227T>A | CA368979487 | CFTR | c.2060T>A (p.Phe687Tyr) c.*1774T>A (n.*1774T>A) c.1877T>A (p.Phe626Tyr) c.*360T>A (n.*360T>A) c.*1884T>A (n.*1884T>A) c.1634T>A (p.Phe545Tyr) c.1402-10599T>A (n.1402-10599T>A) c.1970T>A (p.Phe657Tyr) c.2150T>A (p.Phe717Tyr) c.1817T>A (p.Phe606Tyr) | |
| 7 | g.117592227T>C | CA368979489 | CFTR | c.2060T>C (p.Phe687Ser) c.*1774T>C (n.*1774T>C) c.1877T>C (p.Phe626Ser) c.*360T>C (n.*360T>C) c.*1884T>C (n.*1884T>C) c.1634T>C (p.Phe545Ser) c.1402-10599T>C (n.1402-10599T>C) c.1970T>C (p.Phe657Ser) c.2150T>C (p.Phe717Ser) c.1817T>C (p.Phe606Ser) | |
| 7 | g.117592227T>G | CA368979492 | CFTR | c.2060T>G (p.Phe687Cys) c.*1774T>G (n.*1774T>G) c.1877T>G (p.Phe626Cys) c.*360T>G (n.*360T>G) c.*1884T>G (n.*1884T>G) c.1634T>G (p.Phe545Cys) c.1402-10599T>G (n.1402-10599T>G) c.1970T>G (p.Phe657Cys) c.2150T>G (p.Phe717Cys) c.1817T>G (p.Phe606Cys) | |
| 7 | g.117592228T>A | CA368979494 | CFTR | c.2061T>A (p.Phe687Leu) c.*1775T>A (n.*1775T>A) c.1878T>A (p.Phe626Leu) c.*361T>A (n.*361T>A) c.*1885T>A (n.*1885T>A) c.1635T>A (p.Phe545Leu) c.1402-10598T>A (n.1402-10598T>A) c.1971T>A (p.Phe657Leu) c.2151T>A (p.Phe717Leu) c.1818T>A (p.Phe606Leu) | |
| 7 | g.117592228T>C | CA457449026 | CFTR | c.2061T>C (p.Phe687=) c.*1775T>C (n.*1775T>C) c.1878T>C (p.Phe626=) c.*361T>C (n.*361T>C) c.*1885T>C (n.*1885T>C) c.1635T>C (p.Phe545=) c.1402-10598T>C (n.1402-10598T>C) c.1971T>C (p.Phe657=) c.2151T>C (p.Phe717=) c.1818T>C (p.Phe606=) | ClinVar |
| 7 | g.117592228T>G | CA368979497 | CFTR | c.2061T>G (p.Phe687Leu) c.*1775T>G (n.*1775T>G) c.1878T>G (p.Phe626Leu) c.*361T>G (n.*361T>G) c.*1885T>G (n.*1885T>G) c.1635T>G (p.Phe545Leu) c.1402-10598T>G (n.1402-10598T>G) c.1971T>G (p.Phe657Leu) c.2151T>G (p.Phe717Leu) c.1818T>G (p.Phe606Leu) | |
| 7 | g.117592229A= | CA1737394683 | CFTR | c.2062A= (p.Lys688=) c.*1776A= (n.*1776A=) c.1879A= (p.Lys627=) c.*362A= (n.*362A=) c.*1886A= (n.*1886A=) c.1636A= (p.Lys546=) c.1402-10597A= (n.1402-10597A=) c.1972A= (p.Lys658=) c.2152A= (p.Lys718=) c.1819A= (p.Lys607=) | |
| 7 | g.117592229A>C | CA368979500 | CFTR | c.2062A>C (p.Lys688Gln) c.*1776A>C (n.*1776A>C) c.1879A>C (p.Lys627Gln) c.*362A>C (n.*362A>C) c.*1886A>C (n.*1886A>C) c.1636A>C (p.Lys546Gln) c.1402-10597A>C (n.1402-10597A>C) c.1972A>C (p.Lys658Gln) c.2152A>C (p.Lys718Gln) c.1819A>C (p.Lys607Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592229A>G | CA368979502 | CFTR | c.2062A>G (p.Lys688Glu) c.*1776A>G (n.*1776A>G) c.1879A>G (p.Lys627Glu) c.*362A>G (n.*362A>G) c.*1886A>G (n.*1886A>G) c.1636A>G (p.Lys546Glu) c.1402-10597A>G (n.1402-10597A>G) c.1972A>G (p.Lys658Glu) c.2152A>G (p.Lys718Glu) c.1819A>G (p.Lys607Glu) | |
| 7 | g.117592229A>T | CA368979505 | CFTR | c.2062A>T (p.Lys688Ter) c.*1776A>T (n.*1776A>T) c.1879A>T (p.Lys627Ter) c.*362A>T (n.*362A>T) c.*1886A>T (n.*1886A>T) c.1636A>T (p.Lys546Ter) c.1402-10597A>T (n.1402-10597A>T) c.1972A>T (p.Lys658Ter) c.2152A>T (p.Lys718Ter) c.1819A>T (p.Lys607Ter) | |
| 7 | g.117592229_117592233delinsTTTTTGTTTG | CA2580076517 | CFTR | c.2062_2066delinsTTTTTGTTTG (p.Lys688PhefsTer?) c.*1776_*1780delinsTTTTTGTTTG (n.*1776_*1780delinsTTTTTGTTTG) c.1879_1883delinsTTTTTGTTTG (p.Lys627PhefsTer?) c.*362_*366delinsTTTTTGTTTG (n.*362_*366delinsTTTTTGTTTG) c.*1886_*1890delinsTTTTTGTTTG (n.*1886_*1890delinsTTTTTGTTTG) c.1636_1640delinsTTTTTGTTTG (p.Lys546PhefsTer?) c.1402-10597_1402-10593delinsTTTTTGTTTG (n.1402-10597_1402-10593delinsTTTTTGTTTG) c.1972_1976delinsTTTTTGTTTG (p.Lys658PhefsTer?) c.2152_2156delinsTTTTTGTTTG (p.Lys718PhefsTer?) c.1819_1823delinsTTTTTGTTTG (p.Lys607PhefsTer?) | ClinVar |
| 7 | g.117592230A>C | CA368979508 | CFTR | c.2063A>C (p.Lys688Thr) c.*1777A>C (n.*1777A>C) c.1880A>C (p.Lys627Thr) c.*363A>C (n.*363A>C) c.*1887A>C (n.*1887A>C) c.1637A>C (p.Lys546Thr) c.1402-10596A>C (n.1402-10596A>C) c.1973A>C (p.Lys658Thr) c.2153A>C (p.Lys718Thr) c.1820A>C (p.Lys607Thr) | |
| 7 | g.117592230A>G | CA368979509 | CFTR | c.2063A>G (p.Lys688Arg) c.*1777A>G (n.*1777A>G) c.1880A>G (p.Lys627Arg) c.*363A>G (n.*363A>G) c.*1887A>G (n.*1887A>G) c.1637A>G (p.Lys546Arg) c.1402-10596A>G (n.1402-10596A>G) c.1973A>G (p.Lys658Arg) c.2153A>G (p.Lys718Arg) c.1820A>G (p.Lys607Arg) | |
| 7 | g.117592230A>T | CA368979511 | CFTR | c.2063A>T (p.Lys688Ile) c.*1777A>T (n.*1777A>T) c.1880A>T (p.Lys627Ile) c.*363A>T (n.*363A>T) c.*1887A>T (n.*1887A>T) c.1637A>T (p.Lys546Ile) c.1402-10596A>T (n.1402-10596A>T) c.1973A>T (p.Lys658Ile) c.2153A>T (p.Lys718Ile) c.1820A>T (p.Lys607Ile) | gnomAD v4 |
| 7 | g.117592231A>C | CA368979514 | CFTR | c.2064A>C (p.Lys688Asn) c.*1778A>C (n.*1778A>C) c.1881A>C (p.Lys627Asn) c.*364A>C (n.*364A>C) c.*1888A>C (n.*1888A>C) c.1638A>C (p.Lys546Asn) c.1402-10595A>C (n.1402-10595A>C) c.1974A>C (p.Lys658Asn) c.2154A>C (p.Lys718Asn) c.1821A>C (p.Lys607Asn) | |
| 7 | g.117592231A>G | CA457449027 | CFTR | c.2064A>G (p.Lys688=) c.*1778A>G (n.*1778A>G) c.1881A>G (p.Lys627=) c.*364A>G (n.*364A>G) c.*1888A>G (n.*1888A>G) c.1638A>G (p.Lys546=) c.1402-10595A>G (n.1402-10595A>G) c.1974A>G (p.Lys658=) c.2154A>G (p.Lys718=) c.1821A>G (p.Lys607=) | ClinVar |
| 7 | g.117592231A>T | CA368979517 | CFTR | c.2064A>T (p.Lys688Asn) c.*1778A>T (n.*1778A>T) c.1881A>T (p.Lys627Asn) c.*364A>T (n.*364A>T) c.*1888A>T (n.*1888A>T) c.1638A>T (p.Lys546Asn) c.1402-10595A>T (n.1402-10595A>T) c.1974A>T (p.Lys658Asn) c.2154A>T (p.Lys718Asn) c.1821A>T (p.Lys607Asn) | |
| 7 | g.117592232C>A | CA368979520 | CFTR | c.2065C>A (p.Gln689Lys) c.*1779C>A (n.*1779C>A) c.1882C>A (p.Gln628Lys) c.*365C>A (n.*365C>A) c.*1889C>A (n.*1889C>A) c.1639C>A (p.Gln547Lys) c.1402-10594C>A (n.1402-10594C>A) c.1975C>A (p.Gln659Lys) c.2155C>A (p.Gln719Lys) c.1822C>A (p.Gln608Lys) | |
| 7 | g.117592232C= | CA1737394686 | CFTR | c.2065C= (p.Gln689=) c.*1779C= (n.*1779C=) c.1882C= (p.Gln628=) c.*365C= (n.*365C=) c.*1889C= (n.*1889C=) c.1639C= (p.Gln547=) c.1402-10594C= (n.1402-10594C=) c.1975C= (p.Gln659=) c.2155C= (p.Gln719=) c.1822C= (p.Gln608=) | |
| 7 | g.117592232C>G | CA368979524 | CFTR | c.2065C>G (p.Gln689Glu) c.*1779C>G (n.*1779C>G) c.1882C>G (p.Gln628Glu) c.*365C>G (n.*365C>G) c.*1889C>G (n.*1889C>G) c.1639C>G (p.Gln547Glu) c.1402-10594C>G (n.1402-10594C>G) c.1975C>G (p.Gln659Glu) c.2155C>G (p.Gln719Glu) c.1822C>G (p.Gln608Glu) | |
| 7 | g.117592232C>T | CA368979522 | CFTR | c.2065C>T (p.Gln689Ter) c.*1779C>T (n.*1779C>T) c.1882C>T (p.Gln628Ter) c.*365C>T (n.*365C>T) c.*1889C>T (n.*1889C>T) c.1639C>T (p.Gln547Ter) c.1402-10594C>T (n.1402-10594C>T) c.1975C>T (p.Gln659Ter) c.2155C>T (p.Gln719Ter) c.1822C>T (p.Gln608Ter) | ClinVar dbSNP |
| 7 | g.117592233A= | CA1737394687 | CFTR | c.2066A= (p.Gln689=) c.*1780A= (n.*1780A=) c.1883A= (p.Gln628=) c.*366A= (n.*366A=) c.*1890A= (n.*1890A=) c.1640A= (p.Gln547=) c.1402-10593A= (n.1402-10593A=) c.1976A= (p.Gln659=) c.2156A= (p.Gln719=) c.1823A= (p.Gln608=) | |
| 7 | g.117592233A>C | CA368979527 | CFTR | c.2066A>C (p.Gln689Pro) c.*1780A>C (n.*1780A>C) c.1883A>C (p.Gln628Pro) c.*366A>C (n.*366A>C) c.*1890A>C (n.*1890A>C) c.1640A>C (p.Gln547Pro) c.1402-10593A>C (n.1402-10593A>C) c.1976A>C (p.Gln659Pro) c.2156A>C (p.Gln719Pro) c.1823A>C (p.Gln608Pro) | ClinVar dbSNP |
| 7 | g.117592233A>G | CA368979528 | CFTR | c.2066A>G (p.Gln689Arg) c.*1780A>G (n.*1780A>G) c.1883A>G (p.Gln628Arg) c.*366A>G (n.*366A>G) c.*1890A>G (n.*1890A>G) c.1640A>G (p.Gln547Arg) c.1402-10593A>G (n.1402-10593A>G) c.1976A>G (p.Gln659Arg) c.2156A>G (p.Gln719Arg) c.1823A>G (p.Gln608Arg) | gnomAD v4 |
| 7 | g.117592233A>T | CA368979531 | CFTR | c.2066A>T (p.Gln689Leu) c.*1780A>T (n.*1780A>T) c.1883A>T (p.Gln628Leu) c.*366A>T (n.*366A>T) c.*1890A>T (n.*1890A>T) c.1640A>T (p.Gln547Leu) c.1402-10593A>T (n.1402-10593A>T) c.1976A>T (p.Gln659Leu) c.2156A>T (p.Gln719Leu) c.1823A>T (p.Gln608Leu) | |
| 7 | g.117592234G>A | CA457449028 | CFTR | c.2067G>A (p.Gln689=) c.*1781G>A (n.*1781G>A) c.1884G>A (p.Gln628=) c.*367G>A (n.*367G>A) c.*1891G>A (n.*1891G>A) c.1641G>A (p.Gln547=) c.1402-10592G>A (n.1402-10592G>A) c.1977G>A (p.Gln659=) c.2157G>A (p.Gln719=) c.1824G>A (p.Gln608=) | ClinVar gnomAD v4 COSMIC |