Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11113244_11120565delCA2695195458LDLRc.1445-34_2398+43del
c.1187-34_*209+43del
c.1067-34_2020+43del
c.1187-34_2140+43del
c.1441-34_2394+43del
c.683-34_1636+43del
c.1064-34_2017+43del
c.806-34_1606+332del
c.806-34_1759+43del
n.1337-34_2150+43del
n.1304-34_2300del
n.1304-34_2117+43del
19g.11113288_11123238delCA10585350LDLRc.1455_2463del
c.1197_*274del
c.1077_2085del
c.1197_2205del
c.1451_2459del
c.693_1701del
c.1074_2082del
c.816_1671del
c.816_1824del
n.1347_2215del
n.1314_2539del
n.1314_2182del
ClinVar
19g.11117913_11122676delCA10576322LDLRc.2103+915_2399-498del
c.1705+1701_*210-498del
c.1725+915_2021-498del
c.1845+915_2141-498del
c.2099+915_2395-498del
c.1341+915_1637-498del
c.1722+915_2018-498del
c.1464+915_1607-498del
c.1464+915_1760-498del
n.1855+1701_2151-498del
n.1962+915_2475-498del
n.1822+1701_2118-498del
ClinVar
19g.11118198_11122020delCA2573050614LDLRc.2103+1200_2399-1154del
c.1706-1894_*210-1154del
c.1725+1200_2021-1154del
c.1845+1200_2141-1154del
c.2099+1200_2395-1154del
c.1341+1200_1637-1154del
c.1722+1200_2018-1154del
c.1464+1200_1607-1154del
c.1464+1200_1760-1154del
n.1856-1894_2151-1154del
n.1962+1200_2475-1154del
n.1823-1894_2118-1154del
19g.11120093_11123345delCA2695202625LDLRc.2105_2569+1del
c.1707_*380+1del
c.1727_2191+1del
c.1847_2311+1del
c.2101_2565+1del
c.1343_1807+1del
c.1724_2188+1del
c.1466_1777+1del
c.1466_1930+1del
n.1857_2321+1del
n.1964_2645+1del
n.1824_2288+1del
19g.11120091_11120523delCA658824574LDLRc.2104-1_2398+1del
c.1706-1_*209+1del
c.1726-1_2020+1del
c.1846-1_2140+1del
c.2100-1_2394+1del
c.1342-1_1636+1del
c.1723-1_2017+1del
c.1465-1_1606+290del
c.1465-1_1759+1del
n.1856-1_2150+1del
n.1963-1_2258del
n.1823-1_2117+1del
ClinVar
19g.11120091_11123345delCA658824575LDLRc.2104-1_2569+1del
c.1706-1_*380+1del
c.1726-1_2191+1del
c.1846-1_2311+1del
c.2100-1_2565+1del
c.1342-1_1807+1del
c.1723-1_2188+1del
c.1465-1_1777+1del
c.1465-1_1930+1del
n.1856-1_2321+1del
n.1963-1_2645+1del
n.1823-1_2288+1del
ClinVar
19g.11120137_11124406delCA250475LDLRc.2149_2569+1062del
c.1751_*380+1062del
c.1771_2191+1062del
c.1891_2311+1062del
c.2145_2565+1062del
c.1387_1807+1062del
c.1768_2188+1062del
c.1510_1777+1062del
c.1510_1930+1062del
n.1901_2321+1062del
n.2008_2645+1062del
n.1868_2288+1062del
ClinVar
19g.11120137_11124409delCA916081229LDLRc.2149_2569+1065del
c.1751_*380+1065del
c.1771_2191+1065del
c.1891_2311+1065del
c.2145_2565+1065del
c.1387_1807+1065del
c.1768_2188+1065del
c.1510_1777+1065del
c.1510_1930+1065del
n.1901_2321+1065del
n.2008_2645+1065del
n.1868_2288+1065del
ClinVar
19g.11120137_11124409delinsCTCAGCACTTTGGGCA2573050615LDLRc.2149_2569+1065delinsCTCAGCACTTTGGG
c.1751_*380+1065delinsCTCAGCACTTTGGG
c.1771_2191+1065delinsCTCAGCACTTTGGG
c.1891_2311+1065delinsCTCAGCACTTTGGG
c.2145_2565+1065delinsCTCAGCACTTTGGG
c.1387_1807+1065delinsCTCAGCACTTTGGG
c.1768_2188+1065delinsCTCAGCACTTTGGG
c.1510_1777+1065delinsCTCAGCACTTTGGG
c.1510_1930+1065delinsCTCAGCACTTTGGG
n.1901_2321+1065delinsCTCAGCACTTTGGG
n.2008_2645+1065delinsCTCAGCACTTTGGG
n.1868_2288+1065delinsCTCAGCACTTTGGG
19g.11120370_11121586delCA913189004LDLRc.2246_2398+1064del
c.*57_*209+1064del
c.1868_2020+1064del
c.1988_2140+1064del
c.2242_2394+1064del
c.1484_1636+1064del
c.1865_2017+1064del
c.1606+137_1606+1353del (n.1606+137_1606+1353del)
c.1607_1759+1064del
n.1998_2150+1064del
n.2105_2474+847del
n.1965_2117+1064del
19g.11120401C>ACA404093524LDLRc.2277C>A (p.Ser759Arg)
c.*88C>A (n.*88C>A)
c.1899C>A (p.Ser633Arg)
c.2019C>A (p.Ser673Arg)
c.2273C>A
c.1515C>A (p.Ser505Arg)
c.1896C>A (p.Ser632Arg)
c.1606+168C>A (n.1606+168C>A)
c.600C>A
c.1638C>A (p.Ser546Arg)
n.2029C>A
n.2136C>A
n.1996C>A
19g.11120401C=CA2322775554LDLRc.2277C= (p.Ser759=)
c.*88C= (n.*88C=)
c.1899C= (p.Ser633=)
c.2019C= (p.Ser673=)
c.2273C=
c.1515C= (p.Ser505=)
c.1896C= (p.Ser632=)
c.1606+168C= (n.1606+168C=)
c.600C=
c.1638C= (p.Ser546=)
n.2029C=
n.2136C=
n.1996C=
19g.11120401C>GCA404093523LDLRc.2277C>G (p.Ser759Arg)
c.*88C>G (n.*88C>G)
c.1899C>G (p.Ser633Arg)
c.2019C>G (p.Ser673Arg)
c.2273C>G
c.1515C>G (p.Ser505Arg)
c.1896C>G (p.Ser632Arg)
c.1606+168C>G (n.1606+168C>G)
c.600C>G
c.1638C>G (p.Ser546Arg)
n.2029C>G
n.2136C>G
n.1996C>G
19g.11120401C>TCA505743473LDLRc.2277C>T (p.Ser759=)
c.*88C>T (n.*88C>T)
c.1899C>T (p.Ser633=)
c.2019C>T (p.Ser673=)
c.2273C>T
c.1515C>T (p.Ser505=)
c.1896C>T (p.Ser632=)
c.1606+168C>T (n.1606+168C>T)
c.600C>T
c.1638C>T (p.Ser546=)
n.2029C>T
n.2136C>T
n.1996C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120402A>CCA404093526LDLRc.2278A>C (p.Asn760His)
c.*89A>C (n.*89A>C)
c.1900A>C (p.Asn634His)
c.2020A>C (p.Asn674His)
c.2274A>C
c.1516A>C (p.Asn506His)
c.1897A>C (p.Asn633His)
c.1606+169A>C (n.1606+169A>C)
c.601A>C
c.1639A>C (p.Asn547His)
n.2030A>C
n.2137A>C
n.1997A>C
gnomAD v4
19g.11120402A>GCA404093528LDLRc.2278A>G (p.Asn760Asp)
c.*89A>G (n.*89A>G)
c.1900A>G (p.Asn634Asp)
c.2020A>G (p.Asn674Asp)
c.2274A>G
c.1516A>G (p.Asn506Asp)
c.1897A>G (p.Asn633Asp)
c.1606+169A>G (n.1606+169A>G)
c.601A>G
c.1639A>G (p.Asn547Asp)
n.2030A>G
n.2137A>G
n.1997A>G
19g.11120402A>TCA404093530LDLRc.2278A>T (p.Asn760Tyr)
c.*89A>T (n.*89A>T)
c.1900A>T (p.Asn634Tyr)
c.2020A>T (p.Asn674Tyr)
c.2274A>T
c.1516A>T (p.Asn506Tyr)
c.1897A>T (p.Asn633Tyr)
c.1606+169A>T (n.1606+169A>T)
c.601A>T
c.1639A>T (p.Asn547Tyr)
n.2030A>T
n.2137A>T
n.1997A>T
19g.11120403A>CCA404093532LDLRc.2279A>C (p.Asn760Thr)
c.*90A>C (n.*90A>C)
c.1901A>C (p.Asn634Thr)
c.2021A>C (p.Asn674Thr)
c.2275A>C
c.1517A>C (p.Asn506Thr)
c.1898A>C (p.Asn633Thr)
c.1606+170A>C (n.1606+170A>C)
c.602A>C
c.1640A>C (p.Asn547Thr)
n.2031A>C
n.2138A>C
n.1998A>C
19g.11120403A>GCA404093534LDLRc.2279A>G (p.Asn760Ser)
c.*90A>G (n.*90A>G)
c.1901A>G (p.Asn634Ser)
c.2021A>G (p.Asn674Ser)
c.2275A>G
c.1517A>G (p.Asn506Ser)
c.1898A>G (p.Asn633Ser)
c.1606+170A>G (n.1606+170A>G)
c.602A>G
c.1640A>G (p.Asn547Ser)
n.2031A>G
n.2138A>G
n.1998A>G
19g.11120403A>TCA404093536LDLRc.2279A>T (p.Asn760Ile)
c.*90A>T (n.*90A>T)
c.1901A>T (p.Asn634Ile)
c.2021A>T (p.Asn674Ile)
c.2275A>T
c.1517A>T (p.Asn506Ile)
c.1898A>T (p.Asn633Ile)
c.1606+170A>T (n.1606+170A>T)
c.602A>T
c.1640A>T (p.Asn547Ile)
n.2031A>T
n.2138A>T
n.1998A>T
19g.11120404T>ACA404093538LDLRc.2280T>A (p.Asn760Lys)
c.*91T>A (n.*91T>A)
c.1902T>A (p.Asn634Lys)
c.2022T>A (p.Asn674Lys)
c.2276T>A
c.1518T>A (p.Asn506Lys)
c.1899T>A (p.Asn633Lys)
c.1606+171T>A (n.1606+171T>A)
c.603T>A
c.1641T>A (p.Asn547Lys)
n.2032T>A
n.2139T>A
n.1999T>A
19g.11120404T>CCA505743475LDLRc.2280T>C (p.Asn760=)
c.*91T>C (n.*91T>C)
c.1902T>C (p.Asn634=)
c.2022T>C (p.Asn674=)
c.2276T>C
c.1518T>C (p.Asn506=)
c.1899T>C (p.Asn633=)
c.1606+171T>C (n.1606+171T>C)
c.603T>C
c.1641T>C (p.Asn547=)
n.2032T>C
n.2139T>C
n.1999T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11120404T>GCA404093539LDLRc.2280T>G (p.Asn760Lys)
c.*91T>G (n.*91T>G)
c.1902T>G (p.Asn634Lys)
c.2022T>G (p.Asn674Lys)
c.2276T>G
c.1518T>G (p.Asn506Lys)
c.1899T>G (p.Asn633Lys)
c.1606+171T>G (n.1606+171T>G)
c.603T>G
c.1641T>G (p.Asn547Lys)
n.2032T>G
n.2139T>G
n.1999T>G
dbSNP
19g.11120404T=CA2322775555LDLRc.2280T= (p.Asn760=)
c.*91T= (n.*91T=)
c.1902T= (p.Asn634=)
c.2022T= (p.Asn674=)
c.2276T=
c.1518T= (p.Asn506=)
c.1899T= (p.Asn633=)
c.1606+171T= (n.1606+171T=)
c.603T=
c.1641T= (p.Asn547=)
n.2032T=
n.2139T=
n.1999T=
19g.11120404dupCA2573054705LDLRc.2280dup (p.Gly761TrpfsTer?)
c.*91dup (n.*91dup)
c.1902dup (p.Gly635TrpfsTer?)
c.2022dup (p.Gly675TrpfsTer?)
c.2276dup
c.1518dup (p.Gly507TrpfsTer?)
c.1899dup (p.Gly634TrpfsTer?)
c.1606+171dup (n.1606+171dup)
c.603dup
c.1641dup (p.Gly548TrpfsTer?)
n.2032dup
n.2139dup
n.1999dup
ClinVar dbSNP
19g.11120405G>ACA038175LDLRc.2281G>A (p.Gly761Ser)
c.*92G>A (n.*92G>A)
c.1903G>A (p.Gly635Ser)
c.2023G>A (p.Gly675Ser)
c.2277G>A
c.1519G>A (p.Gly507Ser)
c.1900G>A (p.Gly634Ser)
c.1606+172G>A (n.1606+172G>A)
c.604G>A
c.1642G>A (p.Gly548Ser)
n.2033G>A
n.2140G>A
n.2000G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120405G>CCA404093544LDLRc.2281G>C (p.Gly761Arg)
c.*92G>C (n.*92G>C)
c.1903G>C (p.Gly635Arg)
c.2023G>C (p.Gly675Arg)
c.2277G>C
c.1519G>C (p.Gly507Arg)
c.1900G>C (p.Gly634Arg)
c.1606+172G>C (n.1606+172G>C)
c.604G>C
c.1642G>C (p.Gly548Arg)
n.2033G>C
n.2140G>C
n.2000G>C
19g.11120405G=CA2322775556LDLRc.2281G= (p.Gly761=)
c.*92G= (n.*92G=)
c.1903G= (p.Gly635=)
c.2023G= (p.Gly675=)
c.2277G=
c.1519G= (p.Gly507=)
c.1900G= (p.Gly634=)
c.1606+172G= (n.1606+172G=)
c.604G=
c.1642G= (p.Gly548=)
n.2033G=
n.2140G=
n.2000G=
19g.11120405G>TCA404093543LDLRc.2281G>T (p.Gly761Cys)
c.*92G>T (n.*92G>T)
c.1903G>T (p.Gly635Cys)
c.2023G>T (p.Gly675Cys)
c.2277G>T
c.1519G>T (p.Gly507Cys)
c.1900G>T (p.Gly634Cys)
c.1606+172G>T (n.1606+172G>T)
c.604G>T
c.1642G>T (p.Gly548Cys)
n.2033G>T
n.2140G>T
n.2000G>T
19g.11120408_11120410delCA2695195456LDLRc.2284_2286del (p.Gly762del)
c.*95_*97del (n.*95_*97del)
c.1906_1908del (p.Gly636del)
c.2026_2028del (p.Gly676del)
c.2280_2282del
c.1522_1524del (p.Gly508del)
c.1903_1905del (p.Gly635del)
c.1606+175_1606+177del (n.1606+175_1606+177del)
c.1645_1647del (p.Gly549del)
n.2036_2038del
n.2143_2145del
n.2003_2005del
19g.11120406G>ACA404093545LDLRc.2282G>A (p.Gly761Asp)
c.*93G>A (n.*93G>A)
c.1904G>A (p.Gly635Asp)
c.2024G>A (p.Gly675Asp)
c.2278G>A
c.1520G>A (p.Gly507Asp)
c.1901G>A (p.Gly634Asp)
c.1606+173G>A (n.1606+173G>A)
c.605G>A
c.1643G>A (p.Gly548Asp)
n.2034G>A
n.2141G>A
n.2001G>A
19g.11120406G>CCA404093546LDLRc.2282G>C (p.Gly761Ala)
c.*93G>C (n.*93G>C)
c.1904G>C (p.Gly635Ala)
c.2024G>C (p.Gly675Ala)
c.2278G>C
c.1520G>C (p.Gly507Ala)
c.1901G>C (p.Gly634Ala)
c.1606+173G>C (n.1606+173G>C)
c.605G>C
c.1643G>C (p.Gly548Ala)
n.2034G>C
n.2141G>C
n.2001G>C
19g.11120406G>TCA404093547LDLRc.2282G>T (p.Gly761Val)
c.*93G>T (n.*93G>T)
c.1904G>T (p.Gly635Val)
c.2024G>T (p.Gly675Val)
c.2278G>T
c.1520G>T (p.Gly507Val)
c.1901G>T (p.Gly634Val)
c.1606+173G>T (n.1606+173G>T)
c.605G>T
c.1643G>T (p.Gly548Val)
n.2034G>T
n.2141G>T
n.2001G>T
19g.11120407C>ACA505743478LDLRc.2283C>A (p.Gly761=)
c.*94C>A (n.*94C>A)
c.1905C>A (p.Gly635=)
c.2025C>A (p.Gly675=)
c.2279C>A
c.1521C>A (p.Gly507=)
c.1902C>A (p.Gly634=)
c.1606+174C>A (n.1606+174C>A)
c.1644C>A (p.Gly548=)
n.2035C>A
n.2142C>A
n.2002C>A
19g.11120407C=CA2322775557LDLRc.2283C= (p.Gly761=)
c.*94C= (n.*94C=)
c.1905C= (p.Gly635=)
c.2025C= (p.Gly675=)
c.2279C=
c.1521C= (p.Gly507=)
c.1902C= (p.Gly634=)
c.1606+174C= (n.1606+174C=)
c.1644C= (p.Gly548=)
n.2035C=
n.2142C=
n.2002C=
19g.11120407C>GCA505743479LDLRc.2283C>G (p.Gly761=)
c.*94C>G (n.*94C>G)
c.1905C>G (p.Gly635=)
c.2025C>G (p.Gly675=)
c.2279C>G
c.1521C>G (p.Gly507=)
c.1902C>G (p.Gly634=)
c.1606+174C>G (n.1606+174C>G)
c.1644C>G (p.Gly548=)
n.2035C>G
n.2142C>G
n.2002C>G
dbSNP
19g.11120407C>TCA038192LDLRc.2283C>T (p.Gly761=)
c.*94C>T (n.*94C>T)
c.1905C>T (p.Gly635=)
c.2025C>T (p.Gly675=)
c.2279C>T
c.1521C>T (p.Gly507=)
c.1902C>T (p.Gly634=)
c.1606+174C>T (n.1606+174C>T)
c.1644C>T (p.Gly548=)
n.2035C>T
n.2142C>T
n.2002C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120407_11120408delinsCGCA2322775558LDLRc.2283_2284delinsCG (p.Gly761=)
c.*94_*95delinsCG (n.*94_*95delinsCG)
c.1905_1906delinsCG (p.Gly635=)
c.2025_2026delinsCG (p.Gly675=)
c.2279_2280delinsCG
c.1521_1522delinsCG (p.Gly507=)
c.1902_1903delinsCG (p.Gly634=)
c.1606+174_1606+175delinsCG (n.1606+174_1606+175delinsCG)
c.1644_1645delinsCG (p.Gly548=)
n.2035_2036delinsCG
n.2142_2143delinsCG
n.2002_2003delinsCG
19g.11120408G>ACA038201LDLRc.2284G>A (p.Gly762Ser)
c.*95G>A (n.*95G>A)
c.1906G>A (p.Gly636Ser)
c.2026G>A (p.Gly676Ser)
c.2280G>A
c.1522G>A (p.Gly508Ser)
c.1903G>A (p.Gly635Ser)
c.1606+175G>A (n.1606+175G>A)
c.1645G>A (p.Gly549Ser)
n.2036G>A
n.2143G>A
n.2003G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120408G>CCA10585731LDLRc.2284G>C (p.Gly762Arg)
c.*95G>C (n.*95G>C)
c.1906G>C (p.Gly636Arg)
c.2026G>C (p.Gly676Arg)
c.2280G>C
c.1522G>C (p.Gly508Arg)
c.1903G>C (p.Gly635Arg)
c.1606+175G>C (n.1606+175G>C)
c.1645G>C (p.Gly549Arg)
n.2036G>C
n.2143G>C
n.2003G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11120408G=CA2322775559LDLRc.2284G= (p.Gly762=)
c.*95G= (n.*95G=)
c.1906G= (p.Gly636=)
c.2026G= (p.Gly676=)
c.2280G=
c.1522G= (p.Gly508=)
c.1903G= (p.Gly635=)
c.1606+175G= (n.1606+175G=)
c.1645G= (p.Gly549=)
n.2036G=
n.2143G=
n.2003G=
19g.11120408G>TCA404093548LDLRc.2284G>T (p.Gly762Cys)
c.*95G>T (n.*95G>T)
c.1906G>T (p.Gly636Cys)
c.2026G>T (p.Gly676Cys)
c.2280G>T
c.1522G>T (p.Gly508Cys)
c.1903G>T (p.Gly635Cys)
c.1606+175G>T (n.1606+175G>T)
c.1645G>T (p.Gly549Cys)
n.2036G>T
n.2143G>T
n.2003G>T
ClinVar dbSNP
19g.11120408_11120409delCA645611149LDLRc.2284_2285del (p.Gly762LeufsTer?)
c.*95_*96del (n.*95_*96del)
c.1906_1907del (p.Gly636LeufsTer?)
c.2026_2027del (p.Gly676LeufsTer?)
c.2280_2281del
c.1522_1523del (p.Gly508LeufsTer?)
c.1903_1904del (p.Gly635LeufsTer?)
c.1606+175_1606+176del (n.1606+175_1606+176del)
c.1645_1646del (p.Gly549LeufsTer?)
n.2036_2037del
n.2143_2144del
n.2003_2004del
COSMIC
19g.11120409delCA10576327LDLRc.2285del (p.Gly762AlafsTer?)
c.*96del (n.*96del)
c.1907del (p.Gly636AlafsTer?)
c.2027del (p.Gly676AlafsTer?)
c.2281del
c.1523del (p.Gly508AlafsTer?)
c.1904del (p.Gly635AlafsTer?)
c.1606+176del (n.1606+176del)
c.1646del (p.Gly549AlafsTer?)
n.2037del
n.2144del
n.2004del
ClinVar dbSNP
19g.11120409G>ACA404093549LDLRc.2285G>A (p.Gly762Asp)
c.*96G>A (n.*96G>A)
c.1907G>A (p.Gly636Asp)
c.2027G>A (p.Gly676Asp)
c.2281G>A
c.1523G>A (p.Gly508Asp)
c.1904G>A (p.Gly635Asp)
c.1606+176G>A (n.1606+176G>A)
c.1646G>A (p.Gly549Asp)
n.2037G>A
n.2144G>A
n.2004G>A
gnomAD v4
19g.11120409G>CCA038216LDLRc.2285G>C (p.Gly762Ala)
c.*96G>C (n.*96G>C)
c.1907G>C (p.Gly636Ala)
c.2027G>C (p.Gly676Ala)
c.2281G>C
c.1523G>C (p.Gly508Ala)
c.1904G>C (p.Gly635Ala)
c.1606+176G>C (n.1606+176G>C)
c.1646G>C (p.Gly549Ala)
n.2037G>C
n.2144G>C
n.2004G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120409G=CA2322775560LDLRc.2285G= (p.Gly762=)
c.*96G= (n.*96G=)
c.1907G= (p.Gly636=)
c.2027G= (p.Gly676=)
c.2281G=
c.1523G= (p.Gly508=)
c.1904G= (p.Gly635=)
c.1606+176G= (n.1606+176G=)
c.1646G= (p.Gly549=)
n.2037G=
n.2144G=
n.2004G=
19g.11120409G>TCA404093550LDLRc.2285G>T (p.Gly762Val)
c.*96G>T (n.*96G>T)
c.1907G>T (p.Gly636Val)
c.2027G>T (p.Gly676Val)
c.2281G>T
c.1523G>T (p.Gly508Val)
c.1904G>T (p.Gly635Val)
c.1606+176G>T (n.1606+176G>T)
c.1646G>T (p.Gly549Val)
n.2037G>T
n.2144G>T
n.2004G>T
19g.11120410C>ACA505743481LDLRc.2286C>A (p.Gly762=)
c.*97C>A (n.*97C>A)
c.1908C>A (p.Gly636=)
c.2028C>A (p.Gly676=)
c.2282C>A
c.1524C>A (p.Gly508=)
c.1905C>A (p.Gly635=)
c.1606+177C>A (n.1606+177C>A)
c.1647C>A (p.Gly549=)
n.2038C>A
n.2145C>A
n.2005C>A
gnomAD v4

Number of alleles fetched