WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117592139_117592152delinsAGAAATTCAATCCT | CA1737394341 | CFTR | c.1972_1985delinsAGAAATTCAATCCT (p.Arg658=) c.*1686_*1699delinsAGAAATTCAATCCT (n.*1686_*1699delinsAGAAATTCAATCCT) c.1789_1802delinsAGAAATTCAATCCT (p.Arg597=) c.*272_*285delinsAGAAATTCAATCCT (n.*272_*285delinsAGAAATTCAATCCT) c.*1796_*1809delinsAGAAATTCAATCCT (n.*1796_*1809delinsAGAAATTCAATCCT) c.1546_1559delinsAGAAATTCAATCCT (p.Arg516=) c.1402-10687_1402-10674delinsAGAAATTCAATCCT (n.1402-10687_1402-10674delinsAGAAATTCAATCCT) c.1882_1895delinsAGAAATTCAATCCT (p.Arg628=) c.2062_2075delinsAGAAATTCAATCCT (p.Arg688=) c.1729_1742delinsAGAAATTCAATCCT (p.Arg577=) | |
| 7 | g.117592140_117592152delinsAGAA | CA2695208506 | CFTR | c.1973_1985delinsAGAA (p.Arg658_Leu662delinsLysLys) c.*1687_*1699delinsAGAA (n.*1687_*1699delinsAGAA) c.1790_1802delinsAGAA (p.Arg597_Leu601delinsLysLys) c.*273_*285delinsAGAA (n.*273_*285delinsAGAA) c.*1797_*1809delinsAGAA (n.*1797_*1809delinsAGAA) c.1547_1559delinsAGAA (p.Arg516_Leu520delinsLysLys) c.1402-10686_1402-10674delinsAGAA (n.1402-10686_1402-10674delinsAGAA) c.1883_1895delinsAGAA (p.Arg628_Leu632delinsLysLys) c.2063_2075delinsAGAA (p.Arg688_Leu692delinsLysLys) c.1730_1742delinsAGAA (p.Arg577_Leu581delinsLysLys) | |
| 7 | g.117592140_117592152delinsAGAAA | CA326721 | CFTR | c.1973_1985delinsAGAAA (p.Arg658LysfsTer4) c.*1687_*1699delinsAGAAA (n.*1687_*1699delinsAGAAA) c.1790_1802delinsAGAAA (p.Arg597LysfsTer4) c.*273_*285delinsAGAAA (n.*273_*285delinsAGAAA) c.*1797_*1809delinsAGAAA (n.*1797_*1809delinsAGAAA) c.1547_1559delinsAGAAA (p.Arg516LysfsTer4) c.1402-10686_1402-10674delinsAGAAA (n.1402-10686_1402-10674delinsAGAAA) c.1883_1895delinsAGAAA (p.Arg628LysfsTer4) c.2063_2075delinsAGAAA (p.Arg688LysfsTer4) c.1730_1742delinsAGAAA (p.Arg577LysfsTer4) | ClinVar dbSNP |
| 7 | g.117592144T>A | CA368979102 | CFTR | c.1977T>A (p.Asn659Lys) c.*1691T>A (n.*1691T>A) c.1794T>A (p.Asn598Lys) c.*277T>A (n.*277T>A) c.*1801T>A (n.*1801T>A) c.1551T>A (p.Asn517Lys) c.1402-10682T>A (n.1402-10682T>A) c.1887T>A (p.Asn629Lys) c.2067T>A (p.Asn689Lys) c.1734T>A (p.Asn578Lys) | |
| 7 | g.117592144T>C | CA457448919 | CFTR | c.1977T>C (p.Asn659=) c.*1691T>C (n.*1691T>C) c.1794T>C (p.Asn598=) c.*277T>C (n.*277T>C) c.*1801T>C (n.*1801T>C) c.1551T>C (p.Asn517=) c.1402-10682T>C (n.1402-10682T>C) c.1887T>C (p.Asn629=) c.2067T>C (p.Asn689=) c.1734T>C (p.Asn578=) | |
| 7 | g.117592144T>G | CA368979104 | CFTR | c.1977T>G (p.Asn659Lys) c.*1691T>G (n.*1691T>G) c.1794T>G (p.Asn598Lys) c.*277T>G (n.*277T>G) c.*1801T>G (n.*1801T>G) c.1551T>G (p.Asn517Lys) c.1402-10682T>G (n.1402-10682T>G) c.1887T>G (p.Asn629Lys) c.2067T>G (p.Asn689Lys) c.1734T>G (p.Asn578Lys) | |
| 7 | g.117592144_117592152del | CA2684619356 | CFTR | c.1977_1985del (p.Asn659_Leu662delinsLys) c.*1691_*1699del (n.*1691_*1699del) c.1794_1802del (p.Asn598_Leu601delinsLys) c.*277_*285del (n.*277_*285del) c.*1801_*1809del (n.*1801_*1809del) c.1551_1559del (p.Asn517_Leu520delinsLys) c.1402-10682_1402-10674del (n.1402-10682_1402-10674del) c.1887_1895del (p.Asn629_Leu632delinsLys) c.2067_2075del (p.Asn689_Leu692delinsLys) c.1734_1742del (p.Asn578_Leu581delinsLys) | gnomAD v4 |
| 7 | g.117592145T>A | CA368979112 | CFTR | c.1978T>A (p.Ser660Thr) c.*1692T>A (n.*1692T>A) c.1795T>A (p.Ser599Thr) c.*278T>A (n.*278T>A) c.*1802T>A (n.*1802T>A) c.1552T>A (p.Ser518Thr) c.1402-10681T>A (n.1402-10681T>A) c.1888T>A (p.Ser630Thr) c.2068T>A (p.Ser690Thr) c.1735T>A (p.Ser579Thr) | |
| 7 | g.117592145T>C | CA368979107 | CFTR | c.1978T>C (p.Ser660Pro) c.*1692T>C (n.*1692T>C) c.1795T>C (p.Ser599Pro) c.*278T>C (n.*278T>C) c.*1802T>C (n.*1802T>C) c.1552T>C (p.Ser518Pro) c.1402-10681T>C (n.1402-10681T>C) c.1888T>C (p.Ser630Pro) c.2068T>C (p.Ser690Pro) c.1735T>C (p.Ser579Pro) | gnomAD v4 |
| 7 | g.117592145T>G | CA368979110 | CFTR | c.1978T>G (p.Ser660Ala) c.*1692T>G (n.*1692T>G) c.1795T>G (p.Ser599Ala) c.*278T>G (n.*278T>G) c.*1802T>G (n.*1802T>G) c.1552T>G (p.Ser518Ala) c.1402-10681T>G (n.1402-10681T>G) c.1888T>G (p.Ser630Ala) c.2068T>G (p.Ser690Ala) c.1735T>G (p.Ser579Ala) | |
| 7 | g.117592146C>A | CA368979115 | CFTR | c.1979C>A (p.Ser660Ter) c.*1693C>A (n.*1693C>A) c.1796C>A (p.Ser599Ter) c.*279C>A (n.*279C>A) c.*1803C>A (n.*1803C>A) c.1553C>A (p.Ser518Ter) c.1402-10680C>A (n.1402-10680C>A) c.1889C>A (p.Ser630Ter) c.2069C>A (p.Ser690Ter) c.1736C>A (p.Ser579Ter) | |
| 7 | g.117592146C= | CA1737394364 | CFTR | c.1979C= (p.Ser660=) c.*1693C= (n.*1693C=) c.1796C= (p.Ser599=) c.*279C= (n.*279C=) c.*1803C= (n.*1803C=) c.1553C= (p.Ser518=) c.1402-10680C= (n.1402-10680C=) c.1889C= (p.Ser630=) c.2069C= (p.Ser690=) c.1736C= (p.Ser579=) | |
| 7 | g.117592146C>G | CA368979116 | CFTR | c.1979C>G (p.Ser660Ter) c.*1693C>G (n.*1693C>G) c.1796C>G (p.Ser599Ter) c.*279C>G (n.*279C>G) c.*1803C>G (n.*1803C>G) c.1553C>G (p.Ser518Ter) c.1402-10680C>G (n.1402-10680C>G) c.1889C>G (p.Ser630Ter) c.2069C>G (p.Ser690Ter) c.1736C>G (p.Ser579Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117592146C>T | CA368979118 | CFTR | c.1979C>T (p.Ser660Leu) c.*1693C>T (n.*1693C>T) c.1796C>T (p.Ser599Leu) c.*279C>T (n.*279C>T) c.*1803C>T (n.*1803C>T) c.1553C>T (p.Ser518Leu) c.1402-10680C>T (n.1402-10680C>T) c.1889C>T (p.Ser630Leu) c.2069C>T (p.Ser690Leu) c.1736C>T (p.Ser579Leu) | COSMIC |
| 7 | g.117592146_117592147delinsCA | CA1737394363 | CFTR | c.1979_1980delinsCA (p.Ser660=) c.*1693_*1694delinsCA (n.*1693_*1694delinsCA) c.1796_1797delinsCA (p.Ser599=) c.*279_*280delinsCA (n.*279_*280delinsCA) c.*1803_*1804delinsCA (n.*1803_*1804delinsCA) c.1553_1554delinsCA (p.Ser518=) c.1402-10680_1402-10679delinsCA (n.1402-10680_1402-10679delinsCA) c.1889_1890delinsCA (p.Ser630=) c.2069_2070delinsCA (p.Ser690=) c.1736_1737delinsCA (p.Ser579=) | |
| 7 | g.117592147A>C | CA457448920 | CFTR | c.1980A>C (p.Ser660=) c.*1694A>C (n.*1694A>C) c.1797A>C (p.Ser599=) c.*280A>C (n.*280A>C) c.*1804A>C (n.*1804A>C) c.1554A>C (p.Ser518=) c.1402-10679A>C (n.1402-10679A>C) c.1890A>C (p.Ser630=) c.2070A>C (p.Ser690=) c.1737A>C (p.Ser579=) | |
| 7 | g.117592147A>G | CA457448922 | CFTR | c.1980A>G (p.Ser660=) c.*1694A>G (n.*1694A>G) c.1797A>G (p.Ser599=) c.*280A>G (n.*280A>G) c.*1804A>G (n.*1804A>G) c.1554A>G (p.Ser518=) c.1402-10679A>G (n.1402-10679A>G) c.1890A>G (p.Ser630=) c.2070A>G (p.Ser690=) c.1737A>G (p.Ser579=) | |
| 7 | g.117592147A>T | CA457448923 | CFTR | c.1980A>T (p.Ser660=) c.*1694A>T (n.*1694A>T) c.1797A>T (p.Ser599=) c.*280A>T (n.*280A>T) c.*1804A>T (n.*1804A>T) c.1554A>T (p.Ser518=) c.1402-10679A>T (n.1402-10679A>T) c.1890A>T (p.Ser630=) c.2070A>T (p.Ser690=) c.1737A>T (p.Ser579=) | |
| 7 | g.117592148del | CA326723 | CFTR | c.1981del (p.Ile661SerfsTer2) c.*1695del (n.*1695del) c.1798del (p.Ile600SerfsTer2) c.*281del (n.*281del) c.*1805del (n.*1805del) c.1555del (p.Ile519SerfsTer2) c.1402-10678del (n.1402-10678del) c.1891del (p.Ile631SerfsTer2) c.2071del (p.Ile691SerfsTer2) c.1738del (p.Ile580SerfsTer2) | ClinVar dbSNP |
| 7 | g.117592148A= | CA1737394376 | CFTR | c.1981A= (p.Ile661=) c.*1695A= (n.*1695A=) c.1798A= (p.Ile600=) c.*281A= (n.*281A=) c.*1805A= (n.*1805A=) c.1555A= (p.Ile519=) c.1402-10678A= (n.1402-10678A=) c.1891A= (p.Ile631=) c.2071A= (p.Ile691=) c.1738A= (p.Ile580=) | |
| 7 | g.117592148A>C | CA368979124 | CFTR | c.1981A>C (p.Ile661Leu) c.*1695A>C (n.*1695A>C) c.1798A>C (p.Ile600Leu) c.*281A>C (n.*281A>C) c.*1805A>C (n.*1805A>C) c.1555A>C (p.Ile519Leu) c.1402-10678A>C (n.1402-10678A>C) c.1891A>C (p.Ile631Leu) c.2071A>C (p.Ile691Leu) c.1738A>C (p.Ile580Leu) | |
| 7 | g.117592148A>G | CA164947651 | CFTR | c.1981A>G (p.Ile661Val) c.*1695A>G (n.*1695A>G) c.1798A>G (p.Ile600Val) c.*281A>G (n.*281A>G) c.*1805A>G (n.*1805A>G) c.1555A>G (p.Ile519Val) c.1402-10678A>G (n.1402-10678A>G) c.1891A>G (p.Ile631Val) c.2071A>G (p.Ile691Val) c.1738A>G (p.Ile580Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592148A>T | CA368979128 | CFTR | c.1981A>T (p.Ile661Phe) c.*1695A>T (n.*1695A>T) c.1798A>T (p.Ile600Phe) c.*281A>T (n.*281A>T) c.*1805A>T (n.*1805A>T) c.1555A>T (p.Ile519Phe) c.1402-10678A>T (n.1402-10678A>T) c.1891A>T (p.Ile631Phe) c.2071A>T (p.Ile691Phe) c.1738A>T (p.Ile580Phe) | |
| 7 | g.117592149T>A | CA368979130 | CFTR | c.1982T>A (p.Ile661Asn) c.*1696T>A (n.*1696T>A) c.1799T>A (p.Ile600Asn) c.*282T>A (n.*282T>A) c.*1806T>A (n.*1806T>A) c.1556T>A (p.Ile519Asn) c.1402-10677T>A (n.1402-10677T>A) c.1892T>A (p.Ile631Asn) c.2072T>A (p.Ile691Asn) c.1739T>A (p.Ile580Asn) | |
| 7 | g.117592149T>C | CA368979132 | CFTR | c.1982T>C (p.Ile661Thr) c.*1696T>C (n.*1696T>C) c.1799T>C (p.Ile600Thr) c.*282T>C (n.*282T>C) c.*1806T>C (n.*1806T>C) c.1556T>C (p.Ile519Thr) c.1402-10677T>C (n.1402-10677T>C) c.1892T>C (p.Ile631Thr) c.2072T>C (p.Ile691Thr) c.1739T>C (p.Ile580Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592149T>G | CA368979133 | CFTR | c.1982T>G (p.Ile661Ser) c.*1696T>G (n.*1696T>G) c.1799T>G (p.Ile600Ser) c.*282T>G (n.*282T>G) c.*1806T>G (n.*1806T>G) c.1556T>G (p.Ile519Ser) c.1402-10677T>G (n.1402-10677T>G) c.1892T>G (p.Ile631Ser) c.2072T>G (p.Ile691Ser) c.1739T>G (p.Ile580Ser) | |
| 7 | g.117592149T= | CA1737394378 | CFTR | c.1982T= (p.Ile661=) c.*1696T= (n.*1696T=) c.1799T= (p.Ile600=) c.*282T= (n.*282T=) c.*1806T= (n.*1806T=) c.1556T= (p.Ile519=) c.1402-10677T= (n.1402-10677T=) c.1892T= (p.Ile631=) c.2072T= (p.Ile691=) c.1739T= (p.Ile580=) | |
| 7 | g.117592150C>A | CA457448926 | CFTR | c.1983C>A (p.Ile661=) c.*1697C>A (n.*1697C>A) c.1800C>A (p.Ile600=) c.*283C>A (n.*283C>A) c.*1807C>A (n.*1807C>A) c.1557C>A (p.Ile519=) c.1402-10676C>A (n.1402-10676C>A) c.1893C>A (p.Ile631=) c.2073C>A (p.Ile691=) c.1740C>A (p.Ile580=) | |
| 7 | g.117592150C= | CA1737394383 | CFTR | c.1983C= (p.Ile661=) c.*1697C= (n.*1697C=) c.1800C= (p.Ile600=) c.*283C= (n.*283C=) c.*1807C= (n.*1807C=) c.1557C= (p.Ile519=) c.1402-10676C= (n.1402-10676C=) c.1893C= (p.Ile631=) c.2073C= (p.Ile691=) c.1740C= (p.Ile580=) | |
| 7 | g.117592150C>G | CA368979135 | CFTR | c.1983C>G (p.Ile661Met) c.*1697C>G (n.*1697C>G) c.1800C>G (p.Ile600Met) c.*283C>G (n.*283C>G) c.*1807C>G (n.*1807C>G) c.1557C>G (p.Ile519Met) c.1402-10676C>G (n.1402-10676C>G) c.1893C>G (p.Ile631Met) c.2073C>G (p.Ile691Met) c.1740C>G (p.Ile580Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117592150C>T | CA457448927 | CFTR | c.1983C>T (p.Ile661=) c.*1697C>T (n.*1697C>T) c.1800C>T (p.Ile600=) c.*283C>T (n.*283C>T) c.*1807C>T (n.*1807C>T) c.1557C>T (p.Ile519=) c.1402-10676C>T (n.1402-10676C>T) c.1893C>T (p.Ile631=) c.2073C>T (p.Ile691=) c.1740C>T (p.Ile580=) | |
| 7 | g.117592150_117592154delinsCCTAA | CA1737394382 | CFTR | c.1983_1987delinsCCTAA (p.Ile661=) c.*1697_*1701delinsCCTAA (n.*1697_*1701delinsCCTAA) c.1800_1804delinsCCTAA (p.Ile600=) c.*283_*287delinsCCTAA (n.*283_*287delinsCCTAA) c.*1807_*1811delinsCCTAA (n.*1807_*1811delinsCCTAA) c.1557_1561delinsCCTAA (p.Ile519=) c.1402-10676_1402-10672delinsCCTAA (n.1402-10676_1402-10672delinsCCTAA) c.1893_1897delinsCCTAA (p.Ile631=) c.2073_2077delinsCCTAA (p.Ile691=) c.1740_1744delinsCCTAA (p.Ile580=) | |
| 7 | g.117592151C>A | CA368979136 | CFTR | c.1984C>A (p.Leu662Ile) c.*1698C>A (n.*1698C>A) c.1801C>A (p.Leu601Ile) c.*284C>A (n.*284C>A) c.*1808C>A (n.*1808C>A) c.1558C>A (p.Leu520Ile) c.1402-10675C>A (n.1402-10675C>A) c.1894C>A (p.Leu632Ile) c.2074C>A (p.Leu692Ile) c.1741C>A (p.Leu581Ile) | |
| 7 | g.117592151C>G | CA368979137 | CFTR | c.1984C>G (p.Leu662Val) c.*1698C>G (n.*1698C>G) c.1801C>G (p.Leu601Val) c.*284C>G (n.*284C>G) c.*1808C>G (n.*1808C>G) c.1558C>G (p.Leu520Val) c.1402-10675C>G (n.1402-10675C>G) c.1894C>G (p.Leu632Val) c.2074C>G (p.Leu692Val) c.1741C>G (p.Leu581Val) | |
| 7 | g.117592151C>T | CA457448928 | CFTR | c.1984C>T (p.Leu662=) c.*1698C>T (n.*1698C>T) c.1801C>T (p.Leu601=) c.*284C>T (n.*284C>T) c.*1808C>T (n.*1808C>T) c.1558C>T (p.Leu520=) c.1402-10675C>T (n.1402-10675C>T) c.1894C>T (p.Leu632=) c.2074C>T (p.Leu692=) c.1741C>T (p.Leu581=) | |
| 7 | g.117592153_117592156del | CA326724 | CFTR | c.1986_1989del (p.Thr663ArgfsTer8) c.*1700_*1703del (n.*1700_*1703del) c.1803_1806del (p.Thr602ArgfsTer8) c.*286_*289del (n.*286_*289del) c.*1810_*1813del (n.*1810_*1813del) c.1560_1563del (p.Thr521ArgfsTer8) c.1402-10673_1402-10670del (n.1402-10673_1402-10670del) c.1896_1899del (p.Thr633ArgfsTer8) c.2076_2079del (p.Thr693ArgfsTer8) c.1743_1746del (p.Thr582ArgfsTer8) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117592152T>A | CA368979138 | CFTR | c.1985T>A (p.Leu662Gln) c.*1699T>A (n.*1699T>A) c.1802T>A (p.Leu601Gln) c.*285T>A (n.*285T>A) c.*1809T>A (n.*1809T>A) c.1559T>A (p.Leu520Gln) c.1402-10674T>A (n.1402-10674T>A) c.1895T>A (p.Leu632Gln) c.2075T>A (p.Leu692Gln) c.1742T>A (p.Leu581Gln) | |
| 7 | g.117592152T>C | CA368979139 | CFTR | c.1985T>C (p.Leu662Pro) c.*1699T>C (n.*1699T>C) c.1802T>C (p.Leu601Pro) c.*285T>C (n.*285T>C) c.*1809T>C (n.*1809T>C) c.1559T>C (p.Leu520Pro) c.1402-10674T>C (n.1402-10674T>C) c.1895T>C (p.Leu632Pro) c.2075T>C (p.Leu692Pro) c.1742T>C (p.Leu581Pro) | |
| 7 | g.117592152T>G | CA368979140 | CFTR | c.1985T>G (p.Leu662Arg) c.*1699T>G (n.*1699T>G) c.1802T>G (p.Leu601Arg) c.*285T>G (n.*285T>G) c.*1809T>G (n.*1809T>G) c.1559T>G (p.Leu520Arg) c.1402-10674T>G (n.1402-10674T>G) c.1895T>G (p.Leu632Arg) c.2075T>G (p.Leu692Arg) c.1742T>G (p.Leu581Arg) | gnomAD v4 |
| 7 | g.117592153A>C | CA457448930 | CFTR | c.1986A>C (p.Leu662=) c.*1700A>C (n.*1700A>C) c.1803A>C (p.Leu601=) c.*286A>C (n.*286A>C) c.*1810A>C (n.*1810A>C) c.1560A>C (p.Leu520=) c.1402-10673A>C (n.1402-10673A>C) c.1896A>C (p.Leu632=) c.2076A>C (p.Leu692=) c.1743A>C (p.Leu581=) | |
| 7 | g.117592153A>G | CA457448931 | CFTR | c.1986A>G (p.Leu662=) c.*1700A>G (n.*1700A>G) c.1803A>G (p.Leu601=) c.*286A>G (n.*286A>G) c.*1810A>G (n.*1810A>G) c.1560A>G (p.Leu520=) c.1402-10673A>G (n.1402-10673A>G) c.1896A>G (p.Leu632=) c.2076A>G (p.Leu692=) c.1743A>G (p.Leu581=) | |
| 7 | g.117592153A>T | CA457448933 | CFTR | c.1986A>T (p.Leu662=) c.*1700A>T (n.*1700A>T) c.1803A>T (p.Leu601=) c.*286A>T (n.*286A>T) c.*1810A>T (n.*1810A>T) c.1560A>T (p.Leu520=) c.1402-10673A>T (n.1402-10673A>T) c.1896A>T (p.Leu632=) c.2076A>T (p.Leu692=) c.1743A>T (p.Leu581=) | |
| 7 | g.117592154A= | CA1737394394 | CFTR | c.1987A= (p.Thr663=) c.*1701A= (n.*1701A=) c.1804A= (p.Thr602=) c.*287A= (n.*287A=) c.*1811A= (n.*1811A=) c.1561A= (p.Thr521=) c.1402-10672A= (n.1402-10672A=) c.1897A= (p.Thr633=) c.2077A= (p.Thr693=) c.1744A= (p.Thr582=) | |
| 7 | g.117592154A>C | CA368979141 | CFTR | c.1987A>C (p.Thr663Pro) c.*1701A>C (n.*1701A>C) c.1804A>C (p.Thr602Pro) c.*287A>C (n.*287A>C) c.*1811A>C (n.*1811A>C) c.1561A>C (p.Thr521Pro) c.1402-10672A>C (n.1402-10672A>C) c.1897A>C (p.Thr633Pro) c.2077A>C (p.Thr693Pro) c.1744A>C (p.Thr582Pro) | |
| 7 | g.117592154A>G | CA368979142 | CFTR | c.1987A>G (p.Thr663Ala) c.*1701A>G (n.*1701A>G) c.1804A>G (p.Thr602Ala) c.*287A>G (n.*287A>G) c.*1811A>G (n.*1811A>G) c.1561A>G (p.Thr521Ala) c.1402-10672A>G (n.1402-10672A>G) c.1897A>G (p.Thr633Ala) c.2077A>G (p.Thr693Ala) c.1744A>G (p.Thr582Ala) | |
| 7 | g.117592154A>T | CA368979143 | CFTR | c.1987A>T (p.Thr663Ser) c.*1701A>T (n.*1701A>T) c.1804A>T (p.Thr602Ser) c.*287A>T (n.*287A>T) c.*1811A>T (n.*1811A>T) c.1561A>T (p.Thr521Ser) c.1402-10672A>T (n.1402-10672A>T) c.1897A>T (p.Thr633Ser) c.2077A>T (p.Thr693Ser) c.1744A>T (p.Thr582Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117592155C>A | CA368979144 | CFTR | c.1988C>A (p.Thr663Asn) c.*1702C>A (n.*1702C>A) c.1805C>A (p.Thr602Asn) c.*288C>A (n.*288C>A) c.*1812C>A (n.*1812C>A) c.1562C>A (p.Thr521Asn) c.1402-10671C>A (n.1402-10671C>A) c.1898C>A (p.Thr633Asn) c.2078C>A (p.Thr693Asn) c.1745C>A (p.Thr582Asn) | |
| 7 | g.117592155C>G | CA368979145 | CFTR | c.1988C>G (p.Thr663Ser) c.*1702C>G (n.*1702C>G) c.1805C>G (p.Thr602Ser) c.*288C>G (n.*288C>G) c.*1812C>G (n.*1812C>G) c.1562C>G (p.Thr521Ser) c.1402-10671C>G (n.1402-10671C>G) c.1898C>G (p.Thr633Ser) c.2078C>G (p.Thr693Ser) c.1745C>G (p.Thr582Ser) | |
| 7 | g.117592155C>T | CA368979146 | CFTR | c.1988C>T (p.Thr663Ile) c.*1702C>T (n.*1702C>T) c.1805C>T (p.Thr602Ile) c.*288C>T (n.*288C>T) c.*1812C>T (n.*1812C>T) c.1562C>T (p.Thr521Ile) c.1402-10671C>T (n.1402-10671C>T) c.1898C>T (p.Thr633Ile) c.2078C>T (p.Thr693Ile) c.1745C>T (p.Thr582Ile) |