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.117592215_117592222dup | CA1106305610 | CFTR | c.2048_2055dup (p.Ser686LysfsTer?) c.*1762_*1769dup (n.*1762_*1769dup) c.1865_1872dup (p.Ser625LysfsTer?) c.*348_*355dup (n.*348_*355dup) c.*1872_*1879dup (n.*1872_*1879dup) c.1622_1629dup (p.Ser544LysfsTer?) c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup) c.1958_1965dup (p.Ser656LysfsTer?) c.2138_2145dup (p.Ser716LysfsTer?) c.1805_1812dup (p.Ser605LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117592219dup | CA233699 | CFTR | c.2052dup (p.Gln685ThrfsTer4) c.*1766dup (n.*1766dup) c.1869dup (p.Gln624ThrfsTer4) c.*352dup (n.*352dup) c.*1876dup (n.*1876dup) c.1626dup (p.Gln543ThrfsTer4) c.1402-10607dup (n.1402-10607dup) c.1962dup (p.Gln655ThrfsTer4) c.2142dup (p.Gln715ThrfsTer4) c.1809dup (p.Gln604ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219dup | CA913190194 | CFTR | c.2051_2052dup (p.Gln685AsnfsTer?) c.*1765_*1766dup (n.*1765_*1766dup) c.1868_1869dup (p.Gln624AsnfsTer?) c.*351_*352dup (n.*351_*352dup) c.*1875_*1876dup (n.*1875_*1876dup) c.1625_1626dup (p.Gln543AsnfsTer?) c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup) c.1961_1962dup (p.Gln655AsnfsTer?) c.2141_2142dup (p.Gln715AsnfsTer?) c.1808_1809dup (p.Gln604AsnfsTer?) | ClinVar dbSNP |
7 | g.117592219del | CA344706 | CFTR | c.2052del (p.Lys684AsnfsTer?) c.*1766del (n.*1766del) c.1869del (p.Lys623AsnfsTer?) c.*352del (n.*352del) c.*1876del (n.*1876del) c.1626del (p.Lys542AsnfsTer?) c.1402-10607del (n.1402-10607del) c.1962del (p.Lys654AsnfsTer?) c.2142del (p.Lys714AsnfsTer?) c.1809del (p.Lys603AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219del | CA326739 | CFTR | c.2051_2052del (p.Lys684ThrfsTer4) c.*1765_*1766del (n.*1765_*1766del) c.1868_1869del (p.Lys623ThrfsTer4) c.*351_*352del (n.*351_*352del) c.*1875_*1876del (n.*1875_*1876del) c.1625_1626del (p.Lys542ThrfsTer4) c.1402-10608_1402-10607del (n.1402-10608_1402-10607del) c.1961_1962del (p.Lys654ThrfsTer4) c.2141_2142del (p.Lys714ThrfsTer4) c.1808_1809del (p.Lys603ThrfsTer4) | ClinVar dbSNP |
7 | g.117592216_117592219del | CA2573052803 | CFTR | c.2049_2052del (p.Lys683AsnfsTer?) c.*1763_*1766del (n.*1763_*1766del) c.1866_1869del (p.Lys622AsnfsTer?) c.*349_*352del (n.*349_*352del) c.*1873_*1876del (n.*1873_*1876del) c.1623_1626del (p.Lys541AsnfsTer?) c.1402-10610_1402-10607del (n.1402-10610_1402-10607del) c.1959_1962del (p.Lys653AsnfsTer?) c.2139_2142del (p.Lys713AsnfsTer?) c.1806_1809del (p.Lys602AsnfsTer?) | ClinVar dbSNP |
7 | g.117592216_117592220delinsAAAAC | CA1737394602 | CFTR | c.2049_2053delinsAAAAC (p.Lys683=) c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC) c.1866_1870delinsAAAAC (p.Lys622=) c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC) c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC) c.1623_1627delinsAAAAC (p.Lys541=) c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC) c.1959_1963delinsAAAAC (p.Lys653=) c.2139_2143delinsAAAAC (p.Lys713=) c.1806_1810delinsAAAAC (p.Lys602=) | |
7 | g.117592217A>C | CA368979433 | CFTR | c.2050A>C (p.Lys684Gln) c.*1764A>C (n.*1764A>C) c.1867A>C (p.Lys623Gln) c.*350A>C (n.*350A>C) c.*1874A>C (n.*1874A>C) c.1624A>C (p.Lys542Gln) c.1402-10609A>C (n.1402-10609A>C) c.1960A>C (p.Lys654Gln) c.2140A>C (p.Lys714Gln) c.1807A>C (p.Lys603Gln) | |
7 | g.117592217A>G | CA368979432 | CFTR | c.2050A>G (p.Lys684Glu) c.*1764A>G (n.*1764A>G) c.1867A>G (p.Lys623Glu) c.*350A>G (n.*350A>G) c.*1874A>G (n.*1874A>G) c.1624A>G (p.Lys542Glu) c.1402-10609A>G (n.1402-10609A>G) c.1960A>G (p.Lys654Glu) c.2140A>G (p.Lys714Glu) c.1807A>G (p.Lys603Glu) | |
7 | g.117592217A>T | CA368979427 | CFTR | c.2050A>T (p.Lys684Ter) c.*1764A>T (n.*1764A>T) c.1867A>T (p.Lys623Ter) c.*350A>T (n.*350A>T) c.*1874A>T (n.*1874A>T) c.1624A>T (p.Lys542Ter) c.1402-10609A>T (n.1402-10609A>T) c.1960A>T (p.Lys654Ter) c.2140A>T (p.Lys714Ter) c.1807A>T (p.Lys603Ter) | |
7 | g.117592217_117592219delinsAAA | CA1737394609 | CFTR | c.2050_2052delinsAAA (p.Lys684=) c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA) c.1867_1869delinsAAA (p.Lys623=) c.*350_*352delinsAAA (n.*350_*352delinsAAA) c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA) c.1624_1626delinsAAA (p.Lys542=) c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA) c.1960_1962delinsAAA (p.Lys654=) c.2140_2142delinsAAA (p.Lys714=) c.1807_1809delinsAAA (p.Lys603=) | |
7 | g.117592217_117592220delinsAAAC | CA1737394607 | CFTR | c.2050_2053delinsAAAC (p.Lys684=) c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC) c.1867_1870delinsAAAC (p.Lys623=) c.*350_*353delinsAAAC (n.*350_*353delinsAAAC) c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC) c.1624_1627delinsAAAC (p.Lys542=) c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC) c.1960_1963delinsAAAC (p.Lys654=) c.2140_2143delinsAAAC (p.Lys714=) c.1807_1810delinsAAAC (p.Lys603=) | |
7 | g.117592219_117592222del | CA368979429 | CFTR | c.2052_2055del (p.Lys684AsnfsTer?) c.*1766_*1769del (n.*1766_*1769del) c.1869_1872del (p.Lys623AsnfsTer?) c.*352_*355del (n.*352_*355del) c.*1876_*1879del (n.*1876_*1879del) c.1626_1629del (p.Lys542AsnfsTer?) c.1402-10607_1402-10604del (n.1402-10607_1402-10604del) c.1962_1965del (p.Lys654AsnfsTer?) c.2142_2145del (p.Lys714AsnfsTer?) c.1809_1812del (p.Lys603AsnfsTer?) | dbSNP |
7 | g.117592218A= | CA1737394622 | CFTR | c.2051A= (p.Lys684=) c.*1765A= (n.*1765A=) c.1868A= (p.Lys623=) c.*351A= (n.*351A=) c.*1875A= (n.*1875A=) c.1625A= (p.Lys542=) c.1402-10608A= (n.1402-10608A=) c.1961A= (p.Lys654=) c.2141A= (p.Lys714=) c.1808A= (p.Lys603=) | |
7 | g.117592218A>C | CA368979438 | CFTR | c.2051A>C (p.Lys684Thr) c.*1765A>C (n.*1765A>C) c.1868A>C (p.Lys623Thr) c.*351A>C (n.*351A>C) c.*1875A>C (n.*1875A>C) c.1625A>C (p.Lys542Thr) c.1402-10608A>C (n.1402-10608A>C) c.1961A>C (p.Lys654Thr) c.2141A>C (p.Lys714Thr) c.1808A>C (p.Lys603Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117592218A>G | CA164947746 | CFTR | c.2051A>G (p.Lys684Arg) c.*1765A>G (n.*1765A>G) c.1868A>G (p.Lys623Arg) c.*351A>G (n.*351A>G) c.*1875A>G (n.*1875A>G) c.1625A>G (p.Lys542Arg) c.1402-10608A>G (n.1402-10608A>G) c.1961A>G (p.Lys654Arg) c.2141A>G (p.Lys714Arg) c.1808A>G (p.Lys603Arg) | dbSNP |
7 | g.117592218A>T | CA368979436 | CFTR | c.2051A>T (p.Lys684Ile) c.*1765A>T (n.*1765A>T) c.1868A>T (p.Lys623Ile) c.*351A>T (n.*351A>T) c.*1875A>T (n.*1875A>T) c.1625A>T (p.Lys542Ile) c.1402-10608A>T (n.1402-10608A>T) c.1961A>T (p.Lys654Ile) c.2141A>T (p.Lys714Ile) c.1808A>T (p.Lys603Ile) | |
7 | g.117592218_117592219delinsG | CA325699 | CFTR | c.2051_2052delinsG (p.Lys684SerfsTer?) c.*1765_*1766delinsG (n.*1765_*1766delinsG) c.1868_1869delinsG (p.Lys623SerfsTer?) c.*351_*352delinsG (n.*351_*352delinsG) c.*1875_*1876delinsG (n.*1875_*1876delinsG) c.1625_1626delinsG (p.Lys542SerfsTer?) c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG) c.1961_1962delinsG (p.Lys654SerfsTer?) c.2141_2142delinsG (p.Lys714SerfsTer?) c.1808_1809delinsG (p.Lys603SerfsTer?) | ClinVar dbSNP |
7 | g.117592220_117592222del | CA577680764 | CFTR | c.2053_2055del (p.Gln685del) c.*1767_*1769del (n.*1767_*1769del) c.1870_1872del (p.Gln624del) c.*353_*355del (n.*353_*355del) c.*1877_*1879del (n.*1877_*1879del) c.1627_1629del (p.Gln543del) c.1402-10606_1402-10604del (n.1402-10606_1402-10604del) c.1963_1965del (p.Gln655del) c.2143_2145del (p.Gln715del) c.1810_1812del (p.Gln604del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592218_117592219insG | CA923726134 | CFTR | c.2051_2052insG (p.Gln685ThrfsTer4) c.*1765_*1766insG (n.*1765_*1766insG) c.1868_1869insG (p.Gln624ThrfsTer4) c.*351_*352insG (n.*351_*352insG) c.*1875_*1876insG (n.*1875_*1876insG) c.1625_1626insG (p.Gln543ThrfsTer4) c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG) c.1961_1962insG (p.Gln655ThrfsTer4) c.2141_2142insG (p.Gln715ThrfsTer4) c.1808_1809insG (p.Gln604ThrfsTer4) | |
7 | g.117592219A= | CA1737394631 | CFTR | c.2052A= (p.Lys684=) c.*1766A= (n.*1766A=) c.1869A= (p.Lys623=) c.*352A= (n.*352A=) c.*1876A= (n.*1876A=) c.1626A= (p.Lys542=) c.1402-10607A= (n.1402-10607A=) c.1962A= (p.Lys654=) c.2142A= (p.Lys714=) c.1809A= (p.Lys603=) | |
7 | g.117592219A>C | CA368979443 | CFTR | c.2052A>C (p.Lys684Asn) c.*1766A>C (n.*1766A>C) c.1869A>C (p.Lys623Asn) c.*352A>C (n.*352A>C) c.*1876A>C (n.*1876A>C) c.1626A>C (p.Lys542Asn) c.1402-10607A>C (n.1402-10607A>C) c.1962A>C (p.Lys654Asn) c.2142A>C (p.Lys714Asn) c.1809A>C (p.Lys603Asn) | ClinVar dbSNP |
7 | g.117592219A>G | CA4451134 | CFTR | c.2052A>G (p.Lys684=) c.*1766A>G (n.*1766A>G) c.1869A>G (p.Lys623=) c.*352A>G (n.*352A>G) c.*1876A>G (n.*1876A>G) c.1626A>G (p.Lys542=) c.1402-10607A>G (n.1402-10607A>G) c.1962A>G (p.Lys654=) c.2142A>G (p.Lys714=) c.1809A>G (p.Lys603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592219A>T | CA368979447 | CFTR | c.2052A>T (p.Lys684Asn) c.*1766A>T (n.*1766A>T) c.1869A>T (p.Lys623Asn) c.*352A>T (n.*352A>T) c.*1876A>T (n.*1876A>T) c.1626A>T (p.Lys542Asn) c.1402-10607A>T (n.1402-10607A>T) c.1962A>T (p.Lys654Asn) c.2142A>T (p.Lys714Asn) c.1809A>T (p.Lys603Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.117592220C>A | CA368979449 | CFTR | c.2053C>A (p.Gln685Lys) c.*1767C>A (n.*1767C>A) c.1870C>A (p.Gln624Lys) c.*353C>A (n.*353C>A) c.*1877C>A (n.*1877C>A) c.1627C>A (p.Gln543Lys) c.1402-10606C>A (n.1402-10606C>A) c.1963C>A (p.Gln655Lys) c.2143C>A (p.Gln715Lys) c.1810C>A (p.Gln604Lys) | COSMIC |
7 | g.117592220C= | CA1737394648 | CFTR | c.2053C= (p.Gln685=) c.*1767C= (n.*1767C=) c.1870C= (p.Gln624=) c.*353C= (n.*353C=) c.*1877C= (n.*1877C=) c.1627C= (p.Gln543=) c.1402-10606C= (n.1402-10606C=) c.1963C= (p.Gln655=) c.2143C= (p.Gln715=) c.1810C= (p.Gln604=) | |
7 | g.117592220C>G | CA368979451 | CFTR | c.2053C>G (p.Gln685Glu) c.*1767C>G (n.*1767C>G) c.1870C>G (p.Gln624Glu) c.*353C>G (n.*353C>G) c.*1877C>G (n.*1877C>G) c.1627C>G (p.Gln543Glu) c.1402-10606C>G (n.1402-10606C>G) c.1963C>G (p.Gln655Glu) c.2143C>G (p.Gln715Glu) c.1810C>G (p.Gln604Glu) | |
7 | g.117592220C>T | CA326740 | CFTR | c.2053C>T (p.Gln685Ter) c.*1767C>T (n.*1767C>T) c.1870C>T (p.Gln624Ter) c.*353C>T (n.*353C>T) c.*1877C>T (n.*1877C>T) c.1627C>T (p.Gln543Ter) c.1402-10606C>T (n.1402-10606C>T) c.1963C>T (p.Gln655Ter) c.2143C>T (p.Gln715Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
7 | g.117592220dup | CA276116 | CFTR | c.2053dup (p.Gln685ProfsTer4) c.*1767dup (n.*1767dup) c.1870dup (p.Gln624ProfsTer4) c.*353dup (n.*353dup) c.*1877dup (n.*1877dup) c.1627dup (p.Gln543ProfsTer4) c.1402-10606dup (n.1402-10606dup) c.1963dup (p.Gln655ProfsTer4) c.2143dup (p.Gln715ProfsTer4) c.1810dup (p.Gln604ProfsTer4) | ClinVar dbSNP |
7 | g.117592221A>C | CA368979455 | CFTR | c.2054A>C (p.Gln685Pro) c.*1768A>C (n.*1768A>C) c.1871A>C (p.Gln624Pro) c.*354A>C (n.*354A>C) c.*1878A>C (n.*1878A>C) c.1628A>C (p.Gln543Pro) c.1402-10605A>C (n.1402-10605A>C) c.1964A>C (p.Gln655Pro) c.2144A>C (p.Gln715Pro) c.1811A>C (p.Gln604Pro) | ClinVar |
7 | g.117592221A>G | CA368979456 | CFTR | c.2054A>G (p.Gln685Arg) c.*1768A>G (n.*1768A>G) c.1871A>G (p.Gln624Arg) c.*354A>G (n.*354A>G) c.*1878A>G (n.*1878A>G) c.1628A>G (p.Gln543Arg) c.1402-10605A>G (n.1402-10605A>G) c.1964A>G (p.Gln655Arg) c.2144A>G (p.Gln715Arg) c.1811A>G (p.Gln604Arg) | |
7 | g.117592221A>T | CA368979458 | CFTR | c.2054A>T (p.Gln685Leu) c.*1768A>T (n.*1768A>T) c.1871A>T (p.Gln624Leu) c.*354A>T (n.*354A>T) c.*1878A>T (n.*1878A>T) c.1628A>T (p.Gln543Leu) c.1402-10605A>T (n.1402-10605A>T) c.1964A>T (p.Gln655Leu) c.2144A>T (p.Gln715Leu) c.1811A>T (p.Gln604Leu) | |
7 | g.117592222A= | CA1737394657 | CFTR | c.2055A= (p.Gln685=) c.*1769A= (n.*1769A=) c.1872A= (p.Gln624=) c.*355A= (n.*355A=) c.*1879A= (n.*1879A=) c.1629A= (p.Gln543=) c.1402-10604A= (n.1402-10604A=) c.1965A= (p.Gln655=) c.2145A= (p.Gln715=) c.1812A= (p.Gln604=) | |
7 | g.117592222A>C | CA368979462 | CFTR | c.2055A>C (p.Gln685His) c.*1769A>C (n.*1769A>C) c.1872A>C (p.Gln624His) c.*355A>C (n.*355A>C) c.*1879A>C (n.*1879A>C) c.1629A>C (p.Gln543His) c.1402-10604A>C (n.1402-10604A>C) c.1965A>C (p.Gln655His) c.2145A>C (p.Gln715His) c.1812A>C (p.Gln604His) | |
7 | g.117592222A>G | CA457449022 | CFTR | c.2055A>G (p.Gln685=) c.*1769A>G (n.*1769A>G) c.1872A>G (p.Gln624=) c.*355A>G (n.*355A>G) c.*1879A>G (n.*1879A>G) c.1629A>G (p.Gln543=) c.1402-10604A>G (n.1402-10604A>G) c.1965A>G (p.Gln655=) c.2145A>G (p.Gln715=) c.1812A>G (p.Gln604=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117592222A>T | CA368979464 | CFTR | c.2055A>T (p.Gln685His) c.*1769A>T (n.*1769A>T) c.1872A>T (p.Gln624His) c.*355A>T (n.*355A>T) c.*1879A>T (n.*1879A>T) c.1629A>T (p.Gln543His) c.1402-10604A>T (n.1402-10604A>T) c.1965A>T (p.Gln655His) c.2145A>T (p.Gln715His) c.1812A>T (p.Gln604His) | |
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 |