Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1511086C>ACA394222457IFT140c.4247G>T (p.Ser1416Ile)
c.1829G>T (p.Ser610Ile)
c.*2685G>T (n.*2685G>T)
n.4071G>T
c.1880G>T (p.Ser627Ile)
c.4001G>T (p.Ser1334Ile)
c.3272G>T (p.Ser1091Ile)
c.2432G>T (p.Ser811Ile)
16g.1511086C=CA2201718419IFT140c.4247G= (p.Ser1416=)
c.1829G= (p.Ser610=)
c.*2685G= (n.*2685G=)
n.4071G=
c.1880G= (p.Ser627=)
c.4001G= (p.Ser1334=)
c.3272G= (p.Ser1091=)
c.2432G= (p.Ser811=)
16g.1511086C>GCA394222458IFT140c.4247G>C (p.Ser1416Thr)
c.1829G>C (p.Ser610Thr)
c.*2685G>C (n.*2685G>C)
n.4071G>C
c.1880G>C (p.Ser627Thr)
c.4001G>C (p.Ser1334Thr)
c.3272G>C (p.Ser1091Thr)
c.2432G>C (p.Ser811Thr)
16g.1511086C>TCA7812816IFT140c.4247G>A (p.Ser1416Asn)
c.1829G>A (p.Ser610Asn)
c.*2685G>A (n.*2685G>A)
n.4071G>A
c.1880G>A (p.Ser627Asn)
c.4001G>A (p.Ser1334Asn)
c.3272G>A (p.Ser1091Asn)
c.2432G>A (p.Ser811Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511087T>ACA394222459IFT140c.4246A>T (p.Ser1416Cys)
c.1828A>T (p.Ser610Cys)
c.*2684A>T (n.*2684A>T)
n.4070A>T
c.1879A>T (p.Ser627Cys)
c.4000A>T (p.Ser1334Cys)
c.3271A>T (p.Ser1091Cys)
c.2431A>T (p.Ser811Cys)
16g.1511087T>CCA394222460IFT140c.4246A>G (p.Ser1416Gly)
c.1828A>G (p.Ser610Gly)
c.*2684A>G (n.*2684A>G)
n.4070A>G
c.1879A>G (p.Ser627Gly)
c.4000A>G (p.Ser1334Gly)
c.3271A>G (p.Ser1091Gly)
c.2431A>G (p.Ser811Gly)
16g.1511087T>GCA394222461IFT140c.4246A>C (p.Ser1416Arg)
c.1828A>C (p.Ser610Arg)
c.*2684A>C (n.*2684A>C)
n.4070A>C
c.1879A>C (p.Ser627Arg)
c.4000A>C (p.Ser1334Arg)
c.3271A>C (p.Ser1091Arg)
c.2431A>C (p.Ser811Arg)
COSMIC
16g.1511088C>ACA493031541IFT140c.4245G>T (p.Val1415=)
c.1827G>T (p.Val609=)
c.*2683G>T (n.*2683G>T)
n.4069G>T
c.1878G>T (p.Val626=)
c.3999G>T (p.Val1333=)
c.3270G>T (p.Val1090=)
c.2430G>T (p.Val810=)
gnomAD v4 COSMIC
16g.1511088C=CA2201718420IFT140c.4245G= (p.Val1415=)
c.1827G= (p.Val609=)
c.*2683G= (n.*2683G=)
n.4069G=
c.1878G= (p.Val626=)
c.3999G= (p.Val1333=)
c.3270G= (p.Val1090=)
c.2430G= (p.Val810=)
16g.1511088C>GCA493031542IFT140c.4245G>C (p.Val1415=)
c.1827G>C (p.Val609=)
c.*2683G>C (n.*2683G>C)
n.4069G>C
c.1878G>C (p.Val626=)
c.3999G>C (p.Val1333=)
c.3270G>C (p.Val1090=)
c.2430G>C (p.Val810=)
16g.1511088C>TCA493031543IFT140c.4245G>A (p.Val1415=)
c.1827G>A (p.Val609=)
c.*2683G>A (n.*2683G>A)
n.4069G>A
c.1878G>A (p.Val626=)
c.3999G>A (p.Val1333=)
c.3270G>A (p.Val1090=)
c.2430G>A (p.Val810=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511089A>CCA394222462IFT140c.4244T>G (p.Val1415Gly)
c.1826T>G (p.Val609Gly)
c.*2682T>G (n.*2682T>G)
n.4068T>G
c.1877T>G (p.Val626Gly)
c.3998T>G (p.Val1333Gly)
c.3269T>G (p.Val1090Gly)
c.2429T>G (p.Val810Gly)
16g.1511089A>GCA394222464IFT140c.4244T>C (p.Val1415Ala)
c.1826T>C (p.Val609Ala)
c.*2682T>C (n.*2682T>C)
n.4068T>C
c.1877T>C (p.Val626Ala)
c.3998T>C (p.Val1333Ala)
c.3269T>C (p.Val1090Ala)
c.2429T>C (p.Val810Ala)
gnomAD v4
16g.1511089A>TCA394222463IFT140c.4244T>A (p.Val1415Glu)
c.1826T>A (p.Val609Glu)
c.*2682T>A (n.*2682T>A)
n.4068T>A
c.1877T>A (p.Val626Glu)
c.3998T>A (p.Val1333Glu)
c.3269T>A (p.Val1090Glu)
c.2429T>A (p.Val810Glu)
16g.1511090C>ACA394222465IFT140c.4243G>T (p.Val1415Leu)
c.1825G>T (p.Val609Leu)
c.*2681G>T (n.*2681G>T)
n.4067G>T
c.1876G>T (p.Val626Leu)
c.3997G>T (p.Val1333Leu)
c.3268G>T (p.Val1090Leu)
c.2428G>T (p.Val810Leu)
dbSNP
16g.1511090C=CA2201718421IFT140c.4243G= (p.Val1415=)
c.1825G= (p.Val609=)
c.*2681G= (n.*2681G=)
n.4067G=
c.1876G= (p.Val626=)
c.3997G= (p.Val1333=)
c.3268G= (p.Val1090=)
c.2428G= (p.Val810=)
16g.1511090C>GCA394222466IFT140c.4243G>C (p.Val1415Leu)
c.1825G>C (p.Val609Leu)
c.*2681G>C (n.*2681G>C)
n.4067G>C
c.1876G>C (p.Val626Leu)
c.3997G>C (p.Val1333Leu)
c.3268G>C (p.Val1090Leu)
c.2428G>C (p.Val810Leu)
16g.1511090C>TCA7812817IFT140c.4243G>A (p.Val1415Met)
c.1825G>A (p.Val609Met)
c.*2681G>A (n.*2681G>A)
n.4067G>A
c.1876G>A (p.Val626Met)
c.3997G>A (p.Val1333Met)
c.3268G>A (p.Val1090Met)
c.2428G>A (p.Val810Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511091G>ACA493031549IFT140c.4242C>T (p.Tyr1414=)
c.1824C>T (p.Tyr608=)
c.*2680C>T (n.*2680C>T)
n.4066C>T
c.1875C>T (p.Tyr625=)
c.3996C>T (p.Tyr1332=)
c.3267C>T (p.Tyr1089=)
c.2427C>T (p.Tyr809=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511091G>CCA394222467IFT140c.4242C>G (p.Tyr1414Ter)
c.1824C>G (p.Tyr608Ter)
c.*2680C>G (n.*2680C>G)
n.4066C>G
c.1875C>G (p.Tyr625Ter)
c.3996C>G (p.Tyr1332Ter)
c.3267C>G (p.Tyr1089Ter)
c.2427C>G (p.Tyr809Ter)
16g.1511091G=CA2201718422IFT140c.4242C= (p.Tyr1414=)
c.1824C= (p.Tyr608=)
c.*2680C= (n.*2680C=)
n.4066C=
c.1875C= (p.Tyr625=)
c.3996C= (p.Tyr1332=)
c.3267C= (p.Tyr1089=)
c.2427C= (p.Tyr809=)
16g.1511091G>TCA394222468IFT140c.4242C>A (p.Tyr1414Ter)
c.1824C>A (p.Tyr608Ter)
c.*2680C>A (n.*2680C>A)
n.4066C>A
c.1875C>A (p.Tyr625Ter)
c.3996C>A (p.Tyr1332Ter)
c.3267C>A (p.Tyr1089Ter)
c.2427C>A (p.Tyr809Ter)
ClinVar
16g.1511092T>ACA394222469IFT140c.4241A>T (p.Tyr1414Phe)
c.1823A>T (p.Tyr608Phe)
c.*2679A>T (n.*2679A>T)
n.4065A>T
c.1874A>T (p.Tyr625Phe)
c.3995A>T (p.Tyr1332Phe)
c.3266A>T (p.Tyr1089Phe)
c.2426A>T (p.Tyr809Phe)
16g.1511092T>CCA394222470IFT140c.4241A>G (p.Tyr1414Cys)
c.1823A>G (p.Tyr608Cys)
c.*2679A>G (n.*2679A>G)
n.4065A>G
c.1874A>G (p.Tyr625Cys)
c.3995A>G (p.Tyr1332Cys)
c.3266A>G (p.Tyr1089Cys)
c.2426A>G (p.Tyr809Cys)
dbSNP gnomAD v3 gnomAD v4
16g.1511092T>GCA394222471IFT140c.4241A>C (p.Tyr1414Ser)
c.1823A>C (p.Tyr608Ser)
c.*2679A>C (n.*2679A>C)
n.4065A>C
c.1874A>C (p.Tyr625Ser)
c.3995A>C (p.Tyr1332Ser)
c.3266A>C (p.Tyr1089Ser)
c.2426A>C (p.Tyr809Ser)
16g.1511092T=CA2201718423IFT140c.4241A= (p.Tyr1414=)
c.1823A= (p.Tyr608=)
c.*2679A= (n.*2679A=)
n.4065A=
c.1874A= (p.Tyr625=)
c.3995A= (p.Tyr1332=)
c.3266A= (p.Tyr1089=)
c.2426A= (p.Tyr809=)
16g.1511093A=CA2201718424IFT140c.4240T= (p.Tyr1414=)
c.1822T= (p.Tyr608=)
c.*2678T= (n.*2678T=)
n.4064T=
c.1873T= (p.Tyr625=)
c.3994T= (p.Tyr1332=)
c.3265T= (p.Tyr1089=)
c.2425T= (p.Tyr809=)
16g.1511093A>CCA394222472IFT140c.4240T>G (p.Tyr1414Asp)
c.1822T>G (p.Tyr608Asp)
c.*2678T>G (n.*2678T>G)
n.4064T>G
c.1873T>G (p.Tyr625Asp)
c.3994T>G (p.Tyr1332Asp)
c.3265T>G (p.Tyr1089Asp)
c.2425T>G (p.Tyr809Asp)
16g.1511093A>GCA394222473IFT140c.4240T>C (p.Tyr1414His)
c.1822T>C (p.Tyr608His)
c.*2678T>C (n.*2678T>C)
n.4064T>C
c.1873T>C (p.Tyr625His)
c.3994T>C (p.Tyr1332His)
c.3265T>C (p.Tyr1089His)
c.2425T>C (p.Tyr809His)
COSMIC
16g.1511093A>TCA394222474IFT140c.4240T>A (p.Tyr1414Asn)
c.1822T>A (p.Tyr608Asn)
c.*2678T>A (n.*2678T>A)
n.4064T>A
c.1873T>A (p.Tyr625Asn)
c.3994T>A (p.Tyr1332Asn)
c.3265T>A (p.Tyr1089Asn)
c.2425T>A (p.Tyr809Asn)
16g.1511094G>ACA493031553IFT140c.4239C>T (p.Tyr1413=)
c.1821C>T (p.Tyr607=)
c.*2677C>T (n.*2677C>T)
n.4063C>T
c.1872C>T (p.Tyr624=)
c.3993C>T (p.Tyr1331=)
c.3264C>T (p.Tyr1088=)
c.2424C>T (p.Tyr808=)
16g.1511094G>CCA394222476IFT140c.4239C>G (p.Tyr1413Ter)
c.1821C>G (p.Tyr607Ter)
c.*2677C>G (n.*2677C>G)
n.4063C>G
c.1872C>G (p.Tyr624Ter)
c.3993C>G (p.Tyr1331Ter)
c.3264C>G (p.Tyr1088Ter)
c.2424C>G (p.Tyr808Ter)
16g.1511094G>TCA394222475IFT140c.4239C>A (p.Tyr1413Ter)
c.1821C>A (p.Tyr607Ter)
c.*2677C>A (n.*2677C>A)
n.4063C>A
c.1872C>A (p.Tyr624Ter)
c.3993C>A (p.Tyr1331Ter)
c.3264C>A (p.Tyr1088Ter)
c.2424C>A (p.Tyr808Ter)
16g.1511095_1511098dupCA658798458IFT140c.4236_4239dup (p.Tyr1414LeufsTer?)
c.1818_1821dup (p.Tyr608LeufsTer?)
c.*2674_*2677dup (n.*2674_*2677dup)
n.4060_4063dup
c.1869_1872dup (p.Tyr625LeufsTer?)
c.3990_3993dup (p.Tyr1332LeufsTer?)
c.3261_3264dup (p.Tyr1089LeufsTer?)
c.2421_2424dup (p.Tyr809LeufsTer?)
ClinVar dbSNP
16g.1511095T>ACA394222477IFT140c.4238A>T (p.Tyr1413Phe)
c.1820A>T (p.Tyr607Phe)
c.*2676A>T (n.*2676A>T)
n.4062A>T
c.1871A>T (p.Tyr624Phe)
c.3992A>T (p.Tyr1331Phe)
c.3263A>T (p.Tyr1088Phe)
c.2423A>T (p.Tyr808Phe)
16g.1511095T>CCA394222479IFT140c.4238A>G (p.Tyr1413Cys)
c.1820A>G (p.Tyr607Cys)
c.*2676A>G (n.*2676A>G)
n.4062A>G
c.1871A>G (p.Tyr624Cys)
c.3992A>G (p.Tyr1331Cys)
c.3263A>G (p.Tyr1088Cys)
c.2423A>G (p.Tyr808Cys)
16g.1511095T>GCA394222478IFT140c.4238A>C (p.Tyr1413Ser)
c.1820A>C (p.Tyr607Ser)
c.*2676A>C (n.*2676A>C)
n.4062A>C
c.1871A>C (p.Tyr624Ser)
c.3992A>C (p.Tyr1331Ser)
c.3263A>C (p.Tyr1088Ser)
c.2423A>C (p.Tyr808Ser)
gnomAD v4
16g.1511096A>CCA394222480IFT140c.4237T>G (p.Tyr1413Asp)
c.1819T>G (p.Tyr607Asp)
c.*2675T>G (n.*2675T>G)
n.4061T>G
c.1870T>G (p.Tyr624Asp)
c.3991T>G (p.Tyr1331Asp)
c.3262T>G (p.Tyr1088Asp)
c.2422T>G (p.Tyr808Asp)
16g.1511096A>GCA394222481IFT140c.4237T>C (p.Tyr1413His)
c.1819T>C (p.Tyr607His)
c.*2675T>C (n.*2675T>C)
n.4061T>C
c.1870T>C (p.Tyr624His)
c.3991T>C (p.Tyr1331His)
c.3262T>C (p.Tyr1088His)
c.2422T>C (p.Tyr808His)
16g.1511096A>TCA394222482IFT140c.4237T>A (p.Tyr1413Asn)
c.1819T>A (p.Tyr607Asn)
c.*2675T>A (n.*2675T>A)
n.4061T>A
c.1870T>A (p.Tyr624Asn)
c.3991T>A (p.Tyr1331Asn)
c.3262T>A (p.Tyr1088Asn)
c.2422T>A (p.Tyr808Asn)
16g.1511097G>ACA7812818IFT140c.4236C>T (p.Ser1412=)
c.1818C>T (p.Ser606=)
c.*2674C>T (n.*2674C>T)
n.4060C>T
c.1869C>T (p.Ser623=)
c.3990C>T (p.Ser1330=)
c.3261C>T (p.Ser1087=)
c.2421C>T (p.Ser807=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511097G>CCA493031558IFT140c.4236C>G (p.Ser1412=)
c.1818C>G (p.Ser606=)
c.*2674C>G (n.*2674C>G)
n.4060C>G
c.1869C>G (p.Ser623=)
c.3990C>G (p.Ser1330=)
c.3261C>G (p.Ser1087=)
c.2421C>G (p.Ser807=)
16g.1511097G=CA2201718425IFT140c.4236C= (p.Ser1412=)
c.1818C= (p.Ser606=)
c.*2674C= (n.*2674C=)
n.4060C=
c.1869C= (p.Ser623=)
c.3990C= (p.Ser1330=)
c.3261C= (p.Ser1087=)
c.2421C= (p.Ser807=)
16g.1511097G>TCA493031560IFT140c.4236C>A (p.Ser1412=)
c.1818C>A (p.Ser606=)
c.*2674C>A (n.*2674C>A)
n.4060C>A
c.1869C>A (p.Ser623=)
c.3990C>A (p.Ser1330=)
c.3261C>A (p.Ser1087=)
c.2421C>A (p.Ser807=)
gnomAD v4
16g.1511098G>ACA394222483IFT140c.4235C>T (p.Ser1412Phe)
c.1817C>T (p.Ser606Phe)
c.*2673C>T (n.*2673C>T)
n.4059C>T
c.1868C>T (p.Ser623Phe)
c.3989C>T (p.Ser1330Phe)
c.3260C>T (p.Ser1087Phe)
c.2420C>T (p.Ser807Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1511098G>CCA394222484IFT140c.4235C>G (p.Ser1412Cys)
c.1817C>G (p.Ser606Cys)
c.*2673C>G (n.*2673C>G)
n.4059C>G
c.1868C>G (p.Ser623Cys)
c.3989C>G (p.Ser1330Cys)
c.3260C>G (p.Ser1087Cys)
c.2420C>G (p.Ser807Cys)
16g.1511098G=CA2201718426IFT140c.4235C= (p.Ser1412=)
c.1817C= (p.Ser606=)
c.*2673C= (n.*2673C=)
n.4059C=
c.1868C= (p.Ser623=)
c.3989C= (p.Ser1330=)
c.3260C= (p.Ser1087=)
c.2420C= (p.Ser807=)
16g.1511098G>TCA394222485IFT140c.4235C>A (p.Ser1412Tyr)
c.1817C>A (p.Ser606Tyr)
c.*2673C>A (n.*2673C>A)
n.4059C>A
c.1868C>A (p.Ser623Tyr)
c.3989C>A (p.Ser1330Tyr)
c.3260C>A (p.Ser1087Tyr)
c.2420C>A (p.Ser807Tyr)
16g.1511099A>CCA394222486IFT140c.4234T>G (p.Ser1412Ala)
c.1816T>G (p.Ser606Ala)
c.*2672T>G (n.*2672T>G)
n.4058T>G
c.1867T>G (p.Ser623Ala)
c.3988T>G (p.Ser1330Ala)
c.3259T>G (p.Ser1087Ala)
c.2419T>G (p.Ser807Ala)
16g.1511099A>GCA394222487IFT140c.4234T>C (p.Ser1412Pro)
c.1816T>C (p.Ser606Pro)
c.*2672T>C (n.*2672T>C)
n.4058T>C
c.1867T>C (p.Ser623Pro)
c.3988T>C (p.Ser1330Pro)
c.3259T>C (p.Ser1087Pro)
c.2419T>C (p.Ser807Pro)
ClinVar dbSNP gnomAD v4
16g.1511099A>TCA394222488IFT140c.4234T>A (p.Ser1412Thr)
c.1816T>A (p.Ser606Thr)
c.*2672T>A (n.*2672T>A)
n.4058T>A
c.1867T>A (p.Ser623Thr)
c.3988T>A (p.Ser1330Thr)
c.3259T>A (p.Ser1087Thr)
c.2419T>A (p.Ser807Thr)
16g.1511100C>ACA394222489IFT140c.4233G>T (p.Met1411Ile)
c.1815G>T (p.Met605Ile)
c.*2671G>T (n.*2671G>T)
n.4057G>T
c.1866G>T (p.Met622Ile)
c.3987G>T (p.Met1329Ile)
c.3258G>T (p.Met1086Ile)
c.2418G>T (p.Met806Ile)
16g.1511100C>GCA394222490IFT140c.4233G>C (p.Met1411Ile)
c.1815G>C (p.Met605Ile)
c.*2671G>C (n.*2671G>C)
n.4057G>C
c.1866G>C (p.Met622Ile)
c.3987G>C (p.Met1329Ile)
c.3258G>C (p.Met1086Ile)
c.2418G>C (p.Met806Ile)
gnomAD v4
16g.1511100C>TCA394222491IFT140c.4233G>A (p.Met1411Ile)
c.1815G>A (p.Met605Ile)
c.*2671G>A (n.*2671G>A)
n.4057G>A
c.1866G>A (p.Met622Ile)
c.3987G>A (p.Met1329Ile)
c.3258G>A (p.Met1086Ile)
c.2418G>A (p.Met806Ile)
16g.1511101A=CA2201718427IFT140c.4232T= (p.Met1411=)
c.1814T= (p.Met605=)
c.*2670T= (n.*2670T=)
n.4056T=
c.1865T= (p.Met622=)
c.3986T= (p.Met1329=)
c.3257T= (p.Met1086=)
c.2417T= (p.Met806=)
16g.1511101A>CCA7812819IFT140c.4232T>G (p.Met1411Arg)
c.1814T>G (p.Met605Arg)
c.*2670T>G (n.*2670T>G)
n.4056T>G
c.1865T>G (p.Met622Arg)
c.3986T>G (p.Met1329Arg)
c.3257T>G (p.Met1086Arg)
c.2417T>G (p.Met806Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511101A>GCA276668314IFT140c.4232T>C (p.Met1411Thr)
c.1814T>C (p.Met605Thr)
c.*2670T>C (n.*2670T>C)
n.4056T>C
c.1865T>C (p.Met622Thr)
c.3986T>C (p.Met1329Thr)
c.3257T>C (p.Met1086Thr)
c.2417T>C (p.Met806Thr)
ClinVar dbSNP gnomAD v4
16g.1511101A>TCA394222492IFT140c.4232T>A (p.Met1411Lys)
c.1814T>A (p.Met605Lys)
c.*2670T>A (n.*2670T>A)
n.4056T>A
c.1865T>A (p.Met622Lys)
c.3986T>A (p.Met1329Lys)
c.3257T>A (p.Met1086Lys)
c.2417T>A (p.Met806Lys)
dbSNP
16g.1511101_1511104delinsATGTCA2201718428IFT140c.4229_4232delinsACAT (p.Asn1410=)
c.1811_1814delinsACAT (p.Asn604=)
c.*2667_*2670delinsACAT (n.*2667_*2670delinsACAT)
n.4053_4056delinsACAT
c.1862_1865delinsACAT (p.Asn621=)
c.3983_3986delinsACAT (p.Asn1328=)
c.3254_3257delinsACAT (p.Asn1085=)
c.2414_2417delinsACAT (p.Asn805=)
16g.1511102T>ACA394222493IFT140c.4231A>T (p.Met1411Leu)
c.1813A>T (p.Met605Leu)
c.*2669A>T (n.*2669A>T)
n.4055A>T
c.1864A>T (p.Met622Leu)
c.3985A>T (p.Met1329Leu)
c.3256A>T (p.Met1086Leu)
c.2416A>T (p.Met806Leu)
16g.1511102T>CCA394222494IFT140c.4231A>G (p.Met1411Val)
c.1813A>G (p.Met605Val)
c.*2669A>G (n.*2669A>G)
n.4055A>G
c.1864A>G (p.Met622Val)
c.3985A>G (p.Met1329Val)
c.3256A>G (p.Met1086Val)
c.2416A>G (p.Met806Val)
dbSNP gnomAD v2 gnomAD v4
16g.1511102T>GCA394222495IFT140c.4231A>C (p.Met1411Leu)
c.1813A>C (p.Met605Leu)
c.*2669A>C (n.*2669A>C)
n.4055A>C
c.1864A>C (p.Met622Leu)
c.3985A>C (p.Met1329Leu)
c.3256A>C (p.Met1086Leu)
c.2416A>C (p.Met806Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1511102T=CA2201718430IFT140c.4231A= (p.Met1411=)
c.1813A= (p.Met605=)
c.*2669A= (n.*2669A=)
n.4055A=
c.1864A= (p.Met622=)
c.3985A= (p.Met1329=)
c.3256A= (p.Met1086=)
c.2416A= (p.Met806=)
16g.1511102dupCA973715139IFT140c.4231dup (p.Met1411AsnfsTer?)
c.1813dup (p.Met605AsnfsTer?)
c.*2669dup (n.*2669dup)
n.4055dup
c.1864dup (p.Met622AsnfsTer?)
c.3985dup (p.Met1329AsnfsTer?)
c.3256dup (p.Met1086AsnfsTer?)
c.2416dup (p.Met806AsnfsTer?)
dbSNP gnomAD v3 gnomAD v4
16g.1511104_1511106delCA2201718429IFT140c.4229_4231del (p.Asn1410del)
c.1811_1813del (p.Asn604del)
c.*2667_*2669del (n.*2667_*2669del)
n.4053_4055del
c.1862_1864del (p.Asn621del)
c.3983_3985del (p.Asn1328del)
c.3254_3256del (p.Asn1085del)
c.2414_2416del (p.Asn805del)
dbSNP
16g.1511103G>ACA493031570IFT140c.4230C>T (p.Asn1410=)
c.1812C>T (p.Asn604=)
c.*2668C>T (n.*2668C>T)
n.4054C>T
c.1863C>T (p.Asn621=)
c.3984C>T (p.Asn1328=)
c.3255C>T (p.Asn1085=)
c.2415C>T (p.Asn805=)
dbSNP gnomAD v2 gnomAD v4
16g.1511103G>CCA394222496IFT140c.4230C>G (p.Asn1410Lys)
c.1812C>G (p.Asn604Lys)
c.*2668C>G (n.*2668C>G)
n.4054C>G
c.1863C>G (p.Asn621Lys)
c.3984C>G (p.Asn1328Lys)
c.3255C>G (p.Asn1085Lys)
c.2415C>G (p.Asn805Lys)
16g.1511103G=CA2201718431IFT140c.4230C= (p.Asn1410=)
c.1812C= (p.Asn604=)
c.*2668C= (n.*2668C=)
n.4054C=
c.1863C= (p.Asn621=)
c.3984C= (p.Asn1328=)
c.3255C= (p.Asn1085=)
c.2415C= (p.Asn805=)
16g.1511103G>TCA7812820IFT140c.4230C>A (p.Asn1410Lys)
c.1812C>A (p.Asn604Lys)
c.*2668C>A (n.*2668C>A)
n.4054C>A
c.1863C>A (p.Asn621Lys)
c.3984C>A (p.Asn1328Lys)
c.3255C>A (p.Asn1085Lys)
c.2415C>A (p.Asn805Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511103_1511104insACACA2805557754IFT140c.4229_4230insTGT (p.Asn1410_Met1411insVal)
c.1811_1812insTGT (p.Asn604_Met605insVal)
c.*2667_*2668insTGT (n.*2667_*2668insTGT)
n.4053_4054insTGT
c.1862_1863insTGT (p.Asn621_Met622insVal)
c.3983_3984insTGT (p.Asn1328_Met1329insVal)
c.3254_3255insTGT (p.Asn1085_Met1086insVal)
c.2414_2415insTGT (p.Asn805_Met806insVal)
16g.1511104T>ACA394222497IFT140c.4229A>T (p.Asn1410Ile)
c.1811A>T (p.Asn604Ile)
c.*2667A>T (n.*2667A>T)
n.4053A>T
c.1862A>T (p.Asn621Ile)
c.3983A>T (p.Asn1328Ile)
c.3254A>T (p.Asn1085Ile)
c.2414A>T (p.Asn805Ile)
16g.1511104T>CCA394222498IFT140c.4229A>G (p.Asn1410Ser)
c.1811A>G (p.Asn604Ser)
c.*2667A>G (n.*2667A>G)
n.4053A>G
c.1862A>G (p.Asn621Ser)
c.3983A>G (p.Asn1328Ser)
c.3254A>G (p.Asn1085Ser)
c.2414A>G (p.Asn805Ser)
dbSNP gnomAD v3 gnomAD v4
16g.1511104T>GCA394222499IFT140c.4229A>C (p.Asn1410Thr)
c.1811A>C (p.Asn604Thr)
c.*2667A>C (n.*2667A>C)
n.4053A>C
c.1862A>C (p.Asn621Thr)
c.3983A>C (p.Asn1328Thr)
c.3254A>C (p.Asn1085Thr)
c.2414A>C (p.Asn805Thr)
16g.1511104T=CA2201718432IFT140c.4229A= (p.Asn1410=)
c.1811A= (p.Asn604=)
c.*2667A= (n.*2667A=)
n.4053A=
c.1862A= (p.Asn621=)
c.3983A= (p.Asn1328=)
c.3254A= (p.Asn1085=)
c.2414A= (p.Asn805=)
16g.1511105T>ACA394222500IFT140c.4228A>T (p.Asn1410Tyr)
c.1810A>T (p.Asn604Tyr)
c.*2666A>T (n.*2666A>T)
n.4052A>T
c.1861A>T (p.Asn621Tyr)
c.3982A>T (p.Asn1328Tyr)
c.3253A>T (p.Asn1085Tyr)
c.2413A>T (p.Asn805Tyr)
gnomAD v4
16g.1511105T>CCA394222501IFT140c.4228A>G (p.Asn1410Asp)
c.1810A>G (p.Asn604Asp)
c.*2666A>G (n.*2666A>G)
n.4052A>G
c.1861A>G (p.Asn621Asp)
c.3982A>G (p.Asn1328Asp)
c.3253A>G (p.Asn1085Asp)
c.2413A>G (p.Asn805Asp)
ClinVar dbSNP gnomAD v4
16g.1511105T>GCA7812821IFT140c.4228A>C (p.Asn1410His)
c.1810A>C (p.Asn604His)
c.*2666A>C (n.*2666A>C)
n.4052A>C
c.1861A>C (p.Asn621His)
c.3982A>C (p.Asn1328His)
c.3253A>C (p.Asn1085His)
c.2413A>C (p.Asn805His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511105T=CA2201718433IFT140c.4228A= (p.Asn1410=)
c.1810A= (p.Asn604=)
c.*2666A= (n.*2666A=)
n.4052A=
c.1861A= (p.Asn621=)
c.3982A= (p.Asn1328=)
c.3253A= (p.Asn1085=)
c.2413A= (p.Asn805=)
16g.1511106G>ACA7812822IFT140c.4227C>T (p.Ala1409=)
c.1809C>T (p.Ala603=)
c.*2665C>T (n.*2665C>T)
n.4051C>T
c.1860C>T (p.Ala620=)
c.3981C>T (p.Ala1327=)
c.3252C>T (p.Ala1084=)
c.2412C>T (p.Ala804=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511106G>CCA7812823IFT140c.4227C>G (p.Ala1409=)
c.1809C>G (p.Ala603=)
c.*2665C>G (n.*2665C>G)
n.4051C>G
c.1860C>G (p.Ala620=)
c.3981C>G (p.Ala1327=)
c.3252C>G (p.Ala1084=)
c.2412C>G (p.Ala804=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511106G=CA2201718434IFT140c.4227C= (p.Ala1409=)
c.1809C= (p.Ala603=)
c.*2665C= (n.*2665C=)
n.4051C=
c.1860C= (p.Ala620=)
c.3981C= (p.Ala1327=)
c.3252C= (p.Ala1084=)
c.2412C= (p.Ala804=)
16g.1511106G>TCA493031581IFT140c.4227C>A (p.Ala1409=)
c.1809C>A (p.Ala603=)
c.*2665C>A (n.*2665C>A)
n.4051C>A
c.1860C>A (p.Ala620=)
c.3981C>A (p.Ala1327=)
c.3252C>A (p.Ala1084=)
c.2412C>A (p.Ala804=)
16g.1511107G>ACA394222502IFT140c.4226C>T (p.Ala1409Val)
c.1808C>T (p.Ala603Val)
c.*2664C>T (n.*2664C>T)
n.4050C>T
c.1859C>T (p.Ala620Val)
c.3980C>T (p.Ala1327Val)
c.3251C>T (p.Ala1084Val)
c.2411C>T (p.Ala804Val)
gnomAD v4
16g.1511107G>CCA394222503IFT140c.4226C>G (p.Ala1409Gly)
c.1808C>G (p.Ala603Gly)
c.*2664C>G (n.*2664C>G)
n.4050C>G
c.1859C>G (p.Ala620Gly)
c.3980C>G (p.Ala1327Gly)
c.3251C>G (p.Ala1084Gly)
c.2411C>G (p.Ala804Gly)
16g.1511107G>TCA394222504IFT140c.4226C>A (p.Ala1409Asp)
c.1808C>A (p.Ala603Asp)
c.*2664C>A (n.*2664C>A)
n.4050C>A
c.1859C>A (p.Ala620Asp)
c.3980C>A (p.Ala1327Asp)
c.3251C>A (p.Ala1084Asp)
c.2411C>A (p.Ala804Asp)
16g.1511108C>ACA394222505IFT140c.4225G>T (p.Ala1409Ser)
c.1807G>T (p.Ala603Ser)
c.*2663G>T (n.*2663G>T)
n.4049G>T
c.1858G>T (p.Ala620Ser)
c.3979G>T (p.Ala1327Ser)
c.3250G>T (p.Ala1084Ser)
c.2410G>T (p.Ala804Ser)
dbSNP gnomAD v2 gnomAD v4
16g.1511108C=CA2201718435IFT140c.4225G= (p.Ala1409=)
c.1807G= (p.Ala603=)
c.*2663G= (n.*2663G=)
n.4049G=
c.1858G= (p.Ala620=)
c.3979G= (p.Ala1327=)
c.3250G= (p.Ala1084=)
c.2410G= (p.Ala804=)
16g.1511108C>GCA276668324IFT140c.4225G>C (p.Ala1409Pro)
c.1807G>C (p.Ala603Pro)
c.*2663G>C (n.*2663G>C)
n.4049G>C
c.1858G>C (p.Ala620Pro)
c.3979G>C (p.Ala1327Pro)
c.3250G>C (p.Ala1084Pro)
c.2410G>C (p.Ala804Pro)
dbSNP
16g.1511108C>TCA394222506IFT140c.4225G>A (p.Ala1409Thr)
c.1807G>A (p.Ala603Thr)
c.*2663G>A (n.*2663G>A)
n.4049G>A
c.1858G>A (p.Ala620Thr)
c.3979G>A (p.Ala1327Thr)
c.3250G>A (p.Ala1084Thr)
c.2410G>A (p.Ala804Thr)
gnomAD v4
16g.1511109C>ACA394222508IFT140c.4224G>T (p.Leu1408Phe)
c.1806G>T (p.Leu602Phe)
c.*2662G>T (n.*2662G>T)
n.4048G>T
c.1857G>T (p.Leu619Phe)
c.3978G>T (p.Leu1326Phe)
c.3249G>T (p.Leu1083Phe)
c.2409G>T (p.Leu803Phe)
16g.1511109C>GCA394222507IFT140c.4224G>C (p.Leu1408Phe)
c.1806G>C (p.Leu602Phe)
c.*2662G>C (n.*2662G>C)
n.4048G>C
c.1857G>C (p.Leu619Phe)
c.3978G>C (p.Leu1326Phe)
c.3249G>C (p.Leu1083Phe)
c.2409G>C (p.Leu803Phe)
16g.1511109C>TCA493031589IFT140c.4224G>A (p.Leu1408=)
c.1806G>A (p.Leu602=)
c.*2662G>A (n.*2662G>A)
n.4048G>A
c.1857G>A (p.Leu619=)
c.3978G>A (p.Leu1326=)
c.3249G>A (p.Leu1083=)
c.2409G>A (p.Leu803=)
gnomAD v4
16g.1511110A>CCA394222509IFT140c.4223T>G (p.Leu1408Trp)
c.1805T>G (p.Leu602Trp)
c.*2661T>G (n.*2661T>G)
n.4047T>G
c.1856T>G (p.Leu619Trp)
c.3977T>G (p.Leu1326Trp)
c.3248T>G (p.Leu1083Trp)
c.2408T>G (p.Leu803Trp)
16g.1511110A>GCA394222510IFT140c.4223T>C (p.Leu1408Ser)
c.1805T>C (p.Leu602Ser)
c.*2661T>C (n.*2661T>C)
n.4047T>C
c.1856T>C (p.Leu619Ser)
c.3977T>C (p.Leu1326Ser)
c.3248T>C (p.Leu1083Ser)
c.2408T>C (p.Leu803Ser)
gnomAD v4
16g.1511110A>TCA394222511IFT140c.4223T>A (p.Leu1408Ter)
c.1805T>A (p.Leu602Ter)
c.*2661T>A (n.*2661T>A)
n.4047T>A
c.1856T>A (p.Leu619Ter)
c.3977T>A (p.Leu1326Ter)
c.3248T>A (p.Leu1083Ter)
c.2408T>A (p.Leu803Ter)
16g.1511111A>CCA394222512IFT140c.4222T>G (p.Leu1408Val)
c.1804T>G (p.Leu602Val)
c.*2660T>G (n.*2660T>G)
n.4046T>G
c.1855T>G (p.Leu619Val)
c.3976T>G (p.Leu1326Val)
c.3247T>G (p.Leu1083Val)
c.2407T>G (p.Leu803Val)
16g.1511111A>GCA493031590IFT140c.4222T>C (p.Leu1408=)
c.1804T>C (p.Leu602=)
c.*2660T>C (n.*2660T>C)
n.4046T>C
c.1855T>C (p.Leu619=)
c.3976T>C (p.Leu1326=)
c.3247T>C (p.Leu1083=)
c.2407T>C (p.Leu803=)
16g.1511111A>TCA394222513IFT140c.4222T>A (p.Leu1408Met)
c.1804T>A (p.Leu602Met)
c.*2660T>A (n.*2660T>A)
n.4046T>A
c.1855T>A (p.Leu619Met)
c.3976T>A (p.Leu1326Met)
c.3247T>A (p.Leu1083Met)
c.2407T>A (p.Leu803Met)
16g.1511112G>ACA276668326IFT140c.4221C>T (p.Pro1407=)
c.1803C>T (p.Pro601=)
c.*2659C>T (n.*2659C>T)
n.4045C>T
c.1854C>T (p.Pro618=)
c.3975C>T (p.Pro1325=)
c.3246C>T (p.Pro1082=)
c.2406C>T (p.Pro802=)
dbSNP gnomAD v3 gnomAD v4
16g.1511112G>CCA493031592IFT140c.4221C>G (p.Pro1407=)
c.1803C>G (p.Pro601=)
c.*2659C>G (n.*2659C>G)
n.4045C>G
c.1854C>G (p.Pro618=)
c.3975C>G (p.Pro1325=)
c.3246C>G (p.Pro1082=)
c.2406C>G (p.Pro802=)
COSMIC
16g.1511112G=CA2201718436IFT140c.4221C= (p.Pro1407=)
c.1803C= (p.Pro601=)
c.*2659C= (n.*2659C=)
n.4045C=
c.1854C= (p.Pro618=)
c.3975C= (p.Pro1325=)
c.3246C= (p.Pro1082=)
c.2406C= (p.Pro802=)
16g.1511112G>TCA493031593IFT140c.4221C>A (p.Pro1407=)
c.1803C>A (p.Pro601=)
c.*2659C>A (n.*2659C>A)
n.4045C>A
c.1854C>A (p.Pro618=)
c.3975C>A (p.Pro1325=)
c.3246C>A (p.Pro1082=)
c.2406C>A (p.Pro802=)
ClinVar dbSNP gnomAD v4
16g.1511113G>ACA394222514IFT140c.4220C>T (p.Pro1407Leu)
c.1802C>T (p.Pro601Leu)
c.*2658C>T (n.*2658C>T)
n.4044C>T
c.1853C>T (p.Pro618Leu)
c.3974C>T (p.Pro1325Leu)
c.3245C>T (p.Pro1082Leu)
c.2405C>T (p.Pro802Leu)
ClinVar dbSNP gnomAD v4
16g.1511113G>CCA394222516IFT140c.4220C>G (p.Pro1407Arg)
c.1802C>G (p.Pro601Arg)
c.*2658C>G (n.*2658C>G)
n.4044C>G
c.1853C>G (p.Pro618Arg)
c.3974C>G (p.Pro1325Arg)
c.3245C>G (p.Pro1082Arg)
c.2405C>G (p.Pro802Arg)
16g.1511113G>TCA394222515IFT140c.4220C>A (p.Pro1407His)
c.1802C>A (p.Pro601His)
c.*2658C>A (n.*2658C>A)
n.4044C>A
c.1853C>A (p.Pro618His)
c.3974C>A (p.Pro1325His)
c.3245C>A (p.Pro1082His)
c.2405C>A (p.Pro802His)
16g.1511114G>ACA394222517IFT140c.4219C>T (p.Pro1407Ser)
c.1801C>T (p.Pro601Ser)
c.*2657C>T (n.*2657C>T)
n.4043C>T
c.1852C>T (p.Pro618Ser)
c.3973C>T (p.Pro1325Ser)
c.3244C>T (p.Pro1082Ser)
c.2404C>T (p.Pro802Ser)
dbSNP gnomAD v3 gnomAD v4
16g.1511114G>CCA394222518IFT140c.4219C>G (p.Pro1407Ala)
c.1801C>G (p.Pro601Ala)
c.*2657C>G (n.*2657C>G)
n.4043C>G
c.1852C>G (p.Pro618Ala)
c.3973C>G (p.Pro1325Ala)
c.3244C>G (p.Pro1082Ala)
c.2404C>G (p.Pro802Ala)
16g.1511114G=CA2201718437IFT140c.4219C= (p.Pro1407=)
c.1801C= (p.Pro601=)
c.*2657C= (n.*2657C=)
n.4043C=
c.1852C= (p.Pro618=)
c.3973C= (p.Pro1325=)
c.3244C= (p.Pro1082=)
c.2404C= (p.Pro802=)
16g.1511114G>TCA394222519IFT140c.4219C>A (p.Pro1407Thr)
c.1801C>A (p.Pro601Thr)
c.*2657C>A (n.*2657C>A)
n.4043C>A
c.1852C>A (p.Pro618Thr)
c.3973C>A (p.Pro1325Thr)
c.3244C>A (p.Pro1082Thr)
c.2404C>A (p.Pro802Thr)
16g.1511115A>CCA493031596IFT140c.4218T>G (p.Leu1406=)
c.1800T>G (p.Leu600=)
c.*2656T>G (n.*2656T>G)
n.4042T>G
c.1851T>G (p.Leu617=)
c.3972T>G (p.Leu1324=)
c.3243T>G (p.Leu1081=)
c.2403T>G (p.Leu801=)
16g.1511115A>GCA493031598IFT140c.4218T>C (p.Leu1406=)
c.1800T>C (p.Leu600=)
c.*2656T>C (n.*2656T>C)
n.4042T>C
c.1851T>C (p.Leu617=)
c.3972T>C (p.Leu1324=)
c.3243T>C (p.Leu1081=)
c.2403T>C (p.Leu801=)
16g.1511115A>TCA493031600IFT140c.4218T>A (p.Leu1406=)
c.1800T>A (p.Leu600=)
c.*2656T>A (n.*2656T>A)
n.4042T>A
c.1851T>A (p.Leu617=)
c.3972T>A (p.Leu1324=)
c.3243T>A (p.Leu1081=)
c.2403T>A (p.Leu801=)
16g.1511115_1511116insGCCCA276668330IFT140c.4217_4218insGGC (p.Leu1406_Pro1407insAla)
c.1799_1800insGGC (p.Leu600_Pro601insAla)
c.*2655_*2656insGGC (n.*2655_*2656insGGC)
n.4041_4042insGGC
c.1850_1851insGGC (p.Leu617_Pro618insAla)
c.3971_3972insGGC (p.Leu1324_Pro1325insAla)
c.3242_3243insGGC (p.Leu1081_Pro1082insAla)
c.2402_2403insGGC (p.Leu801_Pro802insAla)
16g.1511116A>CCA394222520IFT140c.4217T>G (p.Leu1406Arg)
c.1799T>G (p.Leu600Arg)
c.*2655T>G (n.*2655T>G)
n.4041T>G
c.1850T>G (p.Leu617Arg)
c.3971T>G (p.Leu1324Arg)
c.3242T>G (p.Leu1081Arg)
c.2402T>G (p.Leu801Arg)
16g.1511116A>GCA394222521IFT140c.4217T>C (p.Leu1406Pro)
c.1799T>C (p.Leu600Pro)
c.*2655T>C (n.*2655T>C)
n.4041T>C
c.1850T>C (p.Leu617Pro)
c.3971T>C (p.Leu1324Pro)
c.3242T>C (p.Leu1081Pro)
c.2402T>C (p.Leu801Pro)
16g.1511116A>TCA394222522IFT140c.4217T>A (p.Leu1406His)
c.1799T>A (p.Leu600His)
c.*2655T>A (n.*2655T>A)
n.4041T>A
c.1850T>A (p.Leu617His)
c.3971T>A (p.Leu1324His)
c.3242T>A (p.Leu1081His)
c.2402T>A (p.Leu801His)
16g.1511116_1511119delinsAGCCCA2201718438IFT140c.4214_4217delinsGGCT (p.Arg1405=)
c.1796_1799delinsGGCT (p.Arg599=)
c.*2652_*2655delinsGGCT (n.*2652_*2655delinsGGCT)
n.4038_4041delinsGGCT
c.1847_1850delinsGGCT (p.Arg616=)
c.3968_3971delinsGGCT (p.Arg1323=)
c.3239_3242delinsGGCT (p.Arg1080=)
c.2399_2402delinsGGCT (p.Arg800=)
16g.1511117G>ACA394222523IFT140c.4216C>T (p.Leu1406Phe)
c.1798C>T (p.Leu600Phe)
c.*2654C>T (n.*2654C>T)
n.4040C>T
c.1849C>T (p.Leu617Phe)
c.3970C>T (p.Leu1324Phe)
c.3241C>T (p.Leu1081Phe)
c.2401C>T (p.Leu801Phe)
gnomAD v4
16g.1511117G>CCA394222524IFT140c.4216C>G (p.Leu1406Val)
c.1798C>G (p.Leu600Val)
c.*2654C>G (n.*2654C>G)
n.4040C>G
c.1849C>G (p.Leu617Val)
c.3970C>G (p.Leu1324Val)
c.3241C>G (p.Leu1081Val)
c.2401C>G (p.Leu801Val)
dbSNP
16g.1511117G>TCA394222525IFT140c.4216C>A (p.Leu1406Ile)
c.1798C>A (p.Leu600Ile)
c.*2654C>A (n.*2654C>A)
n.4040C>A
c.1849C>A (p.Leu617Ile)
c.3970C>A (p.Leu1324Ile)
c.3241C>A (p.Leu1081Ile)
c.2401C>A (p.Leu801Ile)
16g.1511125_1511127dupCA7812824IFT140c.4214_4216dup (p.Arg1405_Leu1406insArg)
c.1796_1798dup (p.Arg599_Leu600insArg)
c.*2652_*2654dup (n.*2652_*2654dup)
n.4038_4040dup
c.1847_1849dup (p.Arg616_Leu617insArg)
c.3968_3970dup (p.Arg1323_Leu1324insArg)
c.3239_3241dup (p.Arg1080_Leu1081insArg)
c.2399_2401dup (p.Arg800_Leu801insArg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511125_1511127delCA276668331IFT140c.4214_4216del (p.Arg1405del)
c.1796_1798del (p.Arg599del)
c.*2652_*2654del (n.*2652_*2654del)
n.4038_4040del
c.1847_1849del (p.Arg616del)
c.3968_3970del (p.Arg1323del)
c.3239_3241del (p.Arg1080del)
c.2399_2401del (p.Arg800del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511118C>ACA493031605IFT140c.4215G>T (p.Arg1405=)
c.1797G>T (p.Arg599=)
c.*2653G>T (n.*2653G>T)
n.4039G>T
c.1848G>T (p.Arg616=)
c.3969G>T (p.Arg1323=)
c.3240G>T (p.Arg1080=)
c.2400G>T (p.Arg800=)
16g.1511118C=CA2201718439IFT140c.4215G= (p.Arg1405=)
c.1797G= (p.Arg599=)
c.*2653G= (n.*2653G=)
n.4039G=
c.1848G= (p.Arg616=)
c.3969G= (p.Arg1323=)
c.3240G= (p.Arg1080=)
c.2400G= (p.Arg800=)
16g.1511118C>GCA493031608IFT140c.4215G>C (p.Arg1405=)
c.1797G>C (p.Arg599=)
c.*2653G>C (n.*2653G>C)
n.4039G>C
c.1848G>C (p.Arg616=)
c.3969G>C (p.Arg1323=)
c.3240G>C (p.Arg1080=)
c.2400G>C (p.Arg800=)
gnomAD v4
16g.1511118C>TCA493031607IFT140c.4215G>A (p.Arg1405=)
c.1797G>A (p.Arg599=)
c.*2653G>A (n.*2653G>A)
n.4039G>A
c.1848G>A (p.Arg616=)
c.3969G>A (p.Arg1323=)
c.3240G>A (p.Arg1080=)
c.2400G>A (p.Arg800=)
dbSNP gnomAD v2 gnomAD v4
16g.1511119C>ACA394222527IFT140c.4214G>T (p.Arg1405Leu)
c.1796G>T (p.Arg599Leu)
c.*2652G>T (n.*2652G>T)
n.4038G>T
c.1847G>T (p.Arg616Leu)
c.3968G>T (p.Arg1323Leu)
c.3239G>T (p.Arg1080Leu)
c.2399G>T (p.Arg800Leu)
gnomAD v4
16g.1511119C=CA2201718440IFT140c.4214G= (p.Arg1405=)
c.1796G= (p.Arg599=)
c.*2652G= (n.*2652G=)
n.4038G=
c.1847G= (p.Arg616=)
c.3968G= (p.Arg1323=)
c.3239G= (p.Arg1080=)
c.2399G= (p.Arg800=)
16g.1511119C>GCA394222526IFT140c.4214G>C (p.Arg1405Pro)
c.1796G>C (p.Arg599Pro)
c.*2652G>C (n.*2652G>C)
n.4038G>C
c.1847G>C (p.Arg616Pro)
c.3968G>C (p.Arg1323Pro)
c.3239G>C (p.Arg1080Pro)
c.2399G>C (p.Arg800Pro)
16g.1511119C>TCA7812825IFT140c.4214G>A (p.Arg1405Gln)
c.1796G>A (p.Arg599Gln)
c.*2652G>A (n.*2652G>A)
n.4038G>A
c.1847G>A (p.Arg616Gln)
c.3968G>A (p.Arg1323Gln)
c.3239G>A (p.Arg1080Gln)
c.2399G>A (p.Arg800Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511119_1511120insTCA2631006846IFT140c.4213_4214insA (p.Arg1405GlnfsTer?)
c.1795_1796insA (p.Arg599GlnfsTer?)
c.*2651_*2652insA (n.*2651_*2652insA)
n.4037_4038insA
c.1846_1847insA (p.Arg616GlnfsTer?)
c.3967_3968insA (p.Arg1323GlnfsTer?)
c.3238_3239insA (p.Arg1080GlnfsTer?)
c.2398_2399insA (p.Arg800GlnfsTer?)
gnomAD v4
16g.1511120G>ACA7812826IFT140c.4213C>T (p.Arg1405Trp)
c.1795C>T (p.Arg599Trp)
c.*2651C>T (n.*2651C>T)
n.4037C>T
c.1846C>T (p.Arg616Trp)
c.3967C>T (p.Arg1323Trp)
c.3238C>T (p.Arg1080Trp)
c.2398C>T (p.Arg800Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.1511120G>CCA394222528IFT140c.4213C>G (p.Arg1405Gly)
c.1795C>G (p.Arg599Gly)
c.*2651C>G (n.*2651C>G)
n.4037C>G
c.1846C>G (p.Arg616Gly)
c.3967C>G (p.Arg1323Gly)
c.3238C>G (p.Arg1080Gly)
c.2398C>G (p.Arg800Gly)
16g.1511120G=CA2201718441IFT140c.4213C= (p.Arg1405=)
c.1795C= (p.Arg599=)
c.*2651C= (n.*2651C=)
n.4037C=
c.1846C= (p.Arg616=)
c.3967C= (p.Arg1323=)
c.3238C= (p.Arg1080=)
c.2398C= (p.Arg800=)
16g.1511120G>TCA493031610IFT140c.4213C>A (p.Arg1405=)
c.1795C>A (p.Arg599=)
c.*2651C>A (n.*2651C>A)
n.4037C>A
c.1846C>A (p.Arg616=)
c.3967C>A (p.Arg1323=)
c.3238C>A (p.Arg1080=)
c.2398C>A (p.Arg800=)
gnomAD v4
16g.1511121C>ACA493031613IFT140c.4212G>T (p.Arg1404=)
c.1794G>T (p.Arg598=)
c.*2650G>T (n.*2650G>T)
n.4036G>T
c.1845G>T (p.Arg615=)
c.3966G>T (p.Arg1322=)
c.3237G>T (p.Arg1079=)
c.2397G>T (p.Arg799=)
gnomAD v4
16g.1511121C>GCA493031616IFT140c.4212G>C (p.Arg1404=)
c.1794G>C (p.Arg598=)
c.*2650G>C (n.*2650G>C)
n.4036G>C
c.1845G>C (p.Arg615=)
c.3966G>C (p.Arg1322=)
c.3237G>C (p.Arg1079=)
c.2397G>C (p.Arg799=)
16g.1511121C>TCA493031618IFT140c.4212G>A (p.Arg1404=)
c.1794G>A (p.Arg598=)
c.*2650G>A (n.*2650G>A)
n.4036G>A
c.1845G>A (p.Arg615=)
c.3966G>A (p.Arg1322=)
c.3237G>A (p.Arg1079=)
c.2397G>A (p.Arg799=)
16g.1511121_1511122insACA2805557755IFT140c.4211_4212insT (p.Arg1405AlafsTer?)
c.1793_1794insT (p.Arg599AlafsTer?)
c.*2649_*2650insT (n.*2649_*2650insT)
n.4035_4036insT
c.1844_1845insT (p.Arg616AlafsTer?)
c.3965_3966insT (p.Arg1323AlafsTer?)
c.3236_3237insT (p.Arg1080AlafsTer?)
c.2396_2397insT (p.Arg800AlafsTer?)
16g.1511122C>ACA394222529IFT140c.4211G>T (p.Arg1404Leu)
c.1793G>T (p.Arg598Leu)
c.*2649G>T (n.*2649G>T)
n.4035G>T
c.1844G>T (p.Arg615Leu)
c.3965G>T (p.Arg1322Leu)
c.3236G>T (p.Arg1079Leu)
c.2396G>T (p.Arg799Leu)
gnomAD v4
16g.1511122C=CA2201718442IFT140c.4211G= (p.Arg1404=)
c.1793G= (p.Arg598=)
c.*2649G= (n.*2649G=)
n.4035G=
c.1844G= (p.Arg615=)
c.3965G= (p.Arg1322=)
c.3236G= (p.Arg1079=)
c.2396G= (p.Arg799=)
16g.1511122C>GCA394222530IFT140c.4211G>C (p.Arg1404Pro)
c.1793G>C (p.Arg598Pro)
c.*2649G>C (n.*2649G>C)
n.4035G>C
c.1844G>C (p.Arg615Pro)
c.3965G>C (p.Arg1322Pro)
c.3236G>C (p.Arg1079Pro)
c.2396G>C (p.Arg799Pro)
16g.1511122C>TCA7812827IFT140c.4211G>A (p.Arg1404Gln)
c.1793G>A (p.Arg598Gln)
c.*2649G>A (n.*2649G>A)
n.4035G>A
c.1844G>A (p.Arg615Gln)
c.3965G>A (p.Arg1322Gln)
c.3236G>A (p.Arg1079Gln)
c.2396G>A (p.Arg799Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511123G>ACA394222531IFT140c.4210C>T (p.Arg1404Trp)
c.1792C>T (p.Arg598Trp)
c.*2648C>T (n.*2648C>T)
n.4034C>T
c.1843C>T (p.Arg615Trp)
c.3964C>T (p.Arg1322Trp)
c.3235C>T (p.Arg1079Trp)
c.2395C>T (p.Arg799Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511123G>CCA394222532IFT140c.4210C>G (p.Arg1404Gly)
c.1792C>G (p.Arg598Gly)
c.*2648C>G (n.*2648C>G)
n.4034C>G
c.1843C>G (p.Arg615Gly)
c.3964C>G (p.Arg1322Gly)
c.3235C>G (p.Arg1079Gly)
c.2395C>G (p.Arg799Gly)
16g.1511123G=CA2201718443IFT140c.4210C= (p.Arg1404=)
c.1792C= (p.Arg598=)
c.*2648C= (n.*2648C=)
n.4034C=
c.1843C= (p.Arg615=)
c.3964C= (p.Arg1322=)
c.3235C= (p.Arg1079=)
c.2395C= (p.Arg799=)
16g.1511123G>TCA493031624IFT140c.4210C>A (p.Arg1404=)
c.1792C>A (p.Arg598=)
c.*2648C>A (n.*2648C>A)
n.4034C>A
c.1843C>A (p.Arg615=)
c.3964C>A (p.Arg1322=)
c.3235C>A (p.Arg1079=)
c.2395C>A (p.Arg799=)
dbSNP gnomAD v2 gnomAD v4
16g.1511124C>ACA493031633IFT140c.4209G>T (p.Arg1403=)
c.1791G>T (p.Arg597=)
c.*2647G>T (n.*2647G>T)
n.4033G>T
c.1842G>T (p.Arg614=)
c.3963G>T (p.Arg1321=)
c.3234G>T (p.Arg1078=)
c.2394G>T (p.Arg798=)
16g.1511124C=CA2201718444IFT140c.4209G= (p.Arg1403=)
c.1791G= (p.Arg597=)
c.*2647G= (n.*2647G=)
n.4033G=
c.1842G= (p.Arg614=)
c.3963G= (p.Arg1321=)
c.3234G= (p.Arg1078=)
c.2394G= (p.Arg798=)
16g.1511124C>GCA493031635IFT140c.4209G>C (p.Arg1403=)
c.1791G>C (p.Arg597=)
c.*2647G>C (n.*2647G>C)
n.4033G>C
c.1842G>C (p.Arg614=)
c.3963G>C (p.Arg1321=)
c.3234G>C (p.Arg1078=)
c.2394G>C (p.Arg798=)
16g.1511124C>TCA7812828IFT140c.4209G>A (p.Arg1403=)
c.1791G>A (p.Arg597=)
c.*2647G>A (n.*2647G>A)
n.4033G>A
c.1842G>A (p.Arg614=)
c.3963G>A (p.Arg1321=)
c.3234G>A (p.Arg1078=)
c.2394G>A (p.Arg798=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511125C>ACA394222533IFT140c.4208G>T (p.Arg1403Leu)
c.1790G>T (p.Arg597Leu)
c.*2646G>T (n.*2646G>T)
n.4032G>T
c.1841G>T (p.Arg614Leu)
c.3962G>T (p.Arg1321Leu)
c.3233G>T (p.Arg1078Leu)
c.2393G>T (p.Arg798Leu)
ClinVar gnomAD v4
16g.1511125C=CA2201718445IFT140c.4208G= (p.Arg1403=)
c.1790G= (p.Arg597=)
c.*2646G= (n.*2646G=)
n.4032G=
c.1841G= (p.Arg614=)
c.3962G= (p.Arg1321=)
c.3233G= (p.Arg1078=)
c.2393G= (p.Arg798=)
16g.1511125C>GCA394222534IFT140c.4208G>C (p.Arg1403Pro)
c.1790G>C (p.Arg597Pro)
c.*2646G>C (n.*2646G>C)
n.4032G>C
c.1841G>C (p.Arg614Pro)
c.3962G>C (p.Arg1321Pro)
c.3233G>C (p.Arg1078Pro)
c.2393G>C (p.Arg798Pro)
16g.1511125C>TCA7812829IFT140c.4208G>A (p.Arg1403Gln)
c.1790G>A (p.Arg597Gln)
c.*2646G>A (n.*2646G>A)
n.4032G>A
c.1841G>A (p.Arg614Gln)
c.3962G>A (p.Arg1321Gln)
c.3233G>A (p.Arg1078Gln)
c.2393G>A (p.Arg798Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511126delCA2631006935IFT140c.4207del (p.Arg1403GlyfsTer13)
c.1789del (p.Arg597GlyfsTer13)
c.*2645del (n.*2645del)
n.4031del
c.1840del (p.Arg614GlyfsTer13)
c.3961del (p.Arg1321GlyfsTer13)
c.3232del (p.Arg1078GlyfsTer13)
c.2392del (p.Arg798GlyfsTer13)
ClinVar gnomAD v4
16g.1511126G>ACA7812830IFT140c.4207C>T (p.Arg1403Trp)
c.1789C>T (p.Arg597Trp)
c.*2645C>T (n.*2645C>T)
n.4031C>T
c.1840C>T (p.Arg614Trp)
c.3961C>T (p.Arg1321Trp)
c.3232C>T (p.Arg1078Trp)
c.2392C>T (p.Arg798Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.1511126G>CCA394222535IFT140c.4207C>G (p.Arg1403Gly)
c.1789C>G (p.Arg597Gly)
c.*2645C>G (n.*2645C>G)
n.4031C>G
c.1840C>G (p.Arg614Gly)
c.3961C>G (p.Arg1321Gly)
c.3232C>G (p.Arg1078Gly)
c.2392C>G (p.Arg798Gly)
dbSNP gnomAD v2
16g.1511126G=CA2201718446IFT140c.4207C= (p.Arg1403=)
c.1789C= (p.Arg597=)
c.*2645C= (n.*2645C=)
n.4031C=
c.1840C= (p.Arg614=)
c.3961C= (p.Arg1321=)
c.3232C= (p.Arg1078=)
c.2392C= (p.Arg798=)
16g.1511126G>TCA493031648IFT140c.4207C>A (p.Arg1403=)
c.1789C>A (p.Arg597=)
c.*2645C>A (n.*2645C>A)
n.4031C>A
c.1840C>A (p.Arg614=)
c.3961C>A (p.Arg1321=)
c.3232C>A (p.Arg1078=)
c.2392C>A (p.Arg798=)
gnomAD v4
16g.1511127C>ACA394222536IFT140c.4206G>T (p.Met1402Ile)
c.1788G>T (p.Met596Ile)
c.*2644G>T (n.*2644G>T)
n.4030G>T
c.1839G>T (p.Met613Ile)
c.3960G>T (p.Met1320Ile)
c.3231G>T (p.Met1077Ile)
c.2391G>T (p.Met797Ile)
gnomAD v4
16g.1511127C=CA2201718447IFT140c.4206G= (p.Met1402=)
c.1788G= (p.Met596=)
c.*2644G= (n.*2644G=)
n.4030G=
c.1839G= (p.Met613=)
c.3960G= (p.Met1320=)
c.3231G= (p.Met1077=)
c.2391G= (p.Met797=)
16g.1511127C>GCA394222537IFT140c.4206G>C (p.Met1402Ile)
c.1788G>C (p.Met596Ile)
c.*2644G>C (n.*2644G>C)
n.4030G>C
c.1839G>C (p.Met613Ile)
c.3960G>C (p.Met1320Ile)
c.3231G>C (p.Met1077Ile)
c.2391G>C (p.Met797Ile)
16g.1511127C>TCA276668350IFT140c.4206G>A (p.Met1402Ile)
c.1788G>A (p.Met596Ile)
c.*2644G>A (n.*2644G>A)
n.4030G>A
c.1839G>A (p.Met613Ile)
c.3960G>A (p.Met1320Ile)
c.3231G>A (p.Met1077Ile)
c.2391G>A (p.Met797Ile)
dbSNP COSMIC
16g.1511127_1511128insCTCCA718376229IFT140c.4206_4207insAGG (p.Met1402_Arg1403insArg)
c.1788_1789insAGG (p.Met596_Arg597insArg)
c.*2644_*2645insAGG (n.*2644_*2645insAGG)
n.4030_4031insAGG
c.1839_1840insAGG (p.Met613_Arg614insArg)
c.3960_3961insAGG (p.Met1320_Arg1321insArg)
c.3231_3232insAGG (p.Met1077_Arg1078insArg)
c.2391_2392insAGG (p.Met797_Arg798insArg)
dbSNP gnomAD v3 gnomAD v4
16g.1511128A=CA2201718448IFT140c.4205T= (p.Met1402=)
c.1787T= (p.Met596=)
c.*2643T= (n.*2643T=)
n.4029T=
c.1838T= (p.Met613=)
c.3959T= (p.Met1320=)
c.3230T= (p.Met1077=)
c.2390T= (p.Met797=)
16g.1511128A>CCA394222539IFT140c.4205T>G (p.Met1402Arg)
c.1787T>G (p.Met596Arg)
c.*2643T>G (n.*2643T>G)
n.4029T>G
c.1838T>G (p.Met613Arg)
c.3959T>G (p.Met1320Arg)
c.3230T>G (p.Met1077Arg)
c.2390T>G (p.Met797Arg)
16g.1511128A>GCA7812831IFT140c.4205T>C (p.Met1402Thr)
c.1787T>C (p.Met596Thr)
c.*2643T>C (n.*2643T>C)
n.4029T>C
c.1838T>C (p.Met613Thr)
c.3959T>C (p.Met1320Thr)
c.3230T>C (p.Met1077Thr)
c.2390T>C (p.Met797Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511128A>TCA394222538IFT140c.4205T>A (p.Met1402Lys)
c.1787T>A (p.Met596Lys)
c.*2643T>A (n.*2643T>A)
n.4029T>A
c.1838T>A (p.Met613Lys)
c.3959T>A (p.Met1320Lys)
c.3230T>A (p.Met1077Lys)
c.2390T>A (p.Met797Lys)
16g.1511129T>ACA394222540IFT140c.4204A>T (p.Met1402Leu)
c.1786A>T (p.Met596Leu)
c.*2642A>T (n.*2642A>T)
n.4028A>T
c.1837A>T (p.Met613Leu)
c.3958A>T (p.Met1320Leu)
c.3229A>T (p.Met1077Leu)
c.2389A>T (p.Met797Leu)
16g.1511129T>CCA394222541IFT140c.4204A>G (p.Met1402Val)
c.1786A>G (p.Met596Val)
c.*2642A>G (n.*2642A>G)
n.4028A>G
c.1837A>G (p.Met613Val)
c.3958A>G (p.Met1320Val)
c.3229A>G (p.Met1077Val)
c.2389A>G (p.Met797Val)
ClinVar
16g.1511129T>GCA394222542IFT140c.4204A>C (p.Met1402Leu)
c.1786A>C (p.Met596Leu)
c.*2642A>C (n.*2642A>C)
n.4028A>C
c.1837A>C (p.Met613Leu)
c.3958A>C (p.Met1320Leu)
c.3229A>C (p.Met1077Leu)
c.2389A>C (p.Met797Leu)
16g.1511129_1511132delinsTCTCCA2201718449IFT140c.4201_4204delinsGAGA (p.Glu1401=)
c.1783_1786delinsGAGA (p.Glu595=)
c.*2639_*2642delinsGAGA (n.*2639_*2642delinsGAGA)
n.4025_4028delinsGAGA
c.1834_1837delinsGAGA (p.Glu612=)
c.3955_3958delinsGAGA (p.Glu1319=)
c.3226_3229delinsGAGA (p.Glu1076=)
c.2386_2389delinsGAGA (p.Glu796=)
16g.1511130C>ACA394222543IFT140c.4203G>T (p.Glu1401Asp)
c.1785G>T (p.Glu595Asp)
c.*2641G>T (n.*2641G>T)
n.4027G>T
c.1836G>T (p.Glu612Asp)
c.3957G>T (p.Glu1319Asp)
c.3228G>T (p.Glu1076Asp)
c.2388G>T (p.Glu796Asp)
gnomAD v4
16g.1511130C=CA2201718450IFT140c.4203G= (p.Glu1401=)
c.1785G= (p.Glu595=)
c.*2641G= (n.*2641G=)
n.4027G=
c.1836G= (p.Glu612=)
c.3957G= (p.Glu1319=)
c.3228G= (p.Glu1076=)
c.2388G= (p.Glu796=)
16g.1511130C>GCA394222544IFT140c.4203G>C (p.Glu1401Asp)
c.1785G>C (p.Glu595Asp)
c.*2641G>C (n.*2641G>C)
n.4027G>C
c.1836G>C (p.Glu612Asp)
c.3957G>C (p.Glu1319Asp)
c.3228G>C (p.Glu1076Asp)
c.2388G>C (p.Glu796Asp)
dbSNP
16g.1511130C>TCA493031663IFT140c.4203G>A (p.Glu1401=)
c.1785G>A (p.Glu595=)
c.*2641G>A (n.*2641G>A)
n.4027G>A
c.1836G>A (p.Glu612=)
c.3957G>A (p.Glu1319=)
c.3228G>A (p.Glu1076=)
c.2388G>A (p.Glu796=)
ClinVar
16g.1511134_1511136delCA973715157IFT140c.4201_4203del (p.Glu1401del)
c.1783_1785del (p.Glu595del)
c.*2639_*2641del (n.*2639_*2641del)
n.4025_4027del
c.1834_1836del (p.Glu612del)
c.3955_3957del (p.Glu1319del)
c.3226_3228del (p.Glu1076del)
c.2386_2388del (p.Glu796del)
dbSNP gnomAD v3 gnomAD v4
16g.1511131T>ACA394222545IFT140c.4202A>T (p.Glu1401Val)
c.1784A>T (p.Glu595Val)
c.*2640A>T (n.*2640A>T)
n.4026A>T
c.1835A>T (p.Glu612Val)
c.3956A>T (p.Glu1319Val)
c.3227A>T (p.Glu1076Val)
c.2387A>T (p.Glu796Val)
16g.1511131T>CCA394222546IFT140c.4202A>G (p.Glu1401Gly)
c.1784A>G (p.Glu595Gly)
c.*2640A>G (n.*2640A>G)
n.4026A>G
c.1835A>G (p.Glu612Gly)
c.3956A>G (p.Glu1319Gly)
c.3227A>G (p.Glu1076Gly)
c.2387A>G (p.Glu796Gly)
16g.1511131T>GCA394222547IFT140c.4202A>C (p.Glu1401Ala)
c.1784A>C (p.Glu595Ala)
c.*2640A>C (n.*2640A>C)
n.4026A>C
c.1835A>C (p.Glu612Ala)
c.3956A>C (p.Glu1319Ala)
c.3227A>C (p.Glu1076Ala)
c.2387A>C (p.Glu796Ala)
16g.1511132C>ACA394222548IFT140c.4201G>T (p.Glu1401Ter)
c.1783G>T (p.Glu595Ter)
c.*2639G>T (n.*2639G>T)
n.4025G>T
c.1834G>T (p.Glu612Ter)
c.3955G>T (p.Glu1319Ter)
c.3226G>T (p.Glu1076Ter)
c.2386G>T (p.Glu796Ter)
16g.1511132C=CA2201718451IFT140c.4201G= (p.Glu1401=)
c.1783G= (p.Glu595=)
c.*2639G= (n.*2639G=)
n.4025G=
c.1834G= (p.Glu612=)
c.3955G= (p.Glu1319=)
c.3226G= (p.Glu1076=)
c.2386G= (p.Glu796=)
16g.1511132C>GCA394222549IFT140c.4201G>C (p.Glu1401Gln)
c.1783G>C (p.Glu595Gln)
c.*2639G>C (n.*2639G>C)
n.4025G>C
c.1834G>C (p.Glu612Gln)
c.3955G>C (p.Glu1319Gln)
c.3226G>C (p.Glu1076Gln)
c.2386G>C (p.Glu796Gln)
ClinVar dbSNP gnomAD v4
16g.1511132C>TCA394222550IFT140c.4201G>A (p.Glu1401Lys)
c.1783G>A (p.Glu595Lys)
c.*2639G>A (n.*2639G>A)
n.4025G>A
c.1834G>A (p.Glu612Lys)
c.3955G>A (p.Glu1319Lys)
c.3226G>A (p.Glu1076Lys)
c.2386G>A (p.Glu796Lys)
gnomAD v4
16g.1511133C>ACA394222552IFT140c.4200G>T (p.Glu1400Asp)
c.1782G>T (p.Glu594Asp)
c.*2638G>T (n.*2638G>T)
n.4024G>T
c.1833G>T (p.Glu611Asp)
c.3954G>T (p.Glu1318Asp)
c.3225G>T (p.Glu1075Asp)
c.2385G>T (p.Glu795Asp)
gnomAD v4
16g.1511133C=CA2201718452IFT140c.4200G= (p.Glu1400=)
c.1782G= (p.Glu594=)
c.*2638G= (n.*2638G=)
n.4024G=
c.1833G= (p.Glu611=)
c.3954G= (p.Glu1318=)
c.3225G= (p.Glu1075=)
c.2385G= (p.Glu795=)
16g.1511133C>GCA394222551IFT140c.4200G>C (p.Glu1400Asp)
c.1782G>C (p.Glu594Asp)
c.*2638G>C (n.*2638G>C)
n.4024G>C
c.1833G>C (p.Glu611Asp)
c.3954G>C (p.Glu1318Asp)
c.3225G>C (p.Glu1075Asp)
c.2385G>C (p.Glu795Asp)
16g.1511133C>TCA276668366IFT140c.4200G>A (p.Glu1400=)
c.1782G>A (p.Glu594=)
c.*2638G>A (n.*2638G>A)
n.4024G>A
c.1833G>A (p.Glu611=)
c.3954G>A (p.Glu1318=)
c.3225G>A (p.Glu1075=)
c.2385G>A (p.Glu795=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511134T>ACA394222553IFT140c.4199A>T (p.Glu1400Val)
c.1781A>T (p.Glu594Val)
c.*2637A>T (n.*2637A>T)
n.4023A>T
c.1832A>T (p.Glu611Val)
c.3953A>T (p.Glu1318Val)
c.3224A>T (p.Glu1075Val)
c.2384A>T (p.Glu795Val)
16g.1511134T>CCA394222554IFT140c.4199A>G (p.Glu1400Gly)
c.1781A>G (p.Glu594Gly)
c.*2637A>G (n.*2637A>G)
n.4023A>G
c.1832A>G (p.Glu611Gly)
c.3953A>G (p.Glu1318Gly)
c.3224A>G (p.Glu1075Gly)
c.2384A>G (p.Glu795Gly)
16g.1511134T>GCA394222555IFT140c.4199A>C (p.Glu1400Ala)
c.1781A>C (p.Glu594Ala)
c.*2637A>C (n.*2637A>C)
n.4023A>C
c.1832A>C (p.Glu611Ala)
c.3953A>C (p.Glu1318Ala)
c.3224A>C (p.Glu1075Ala)
c.2384A>C (p.Glu795Ala)
16g.1511135C>ACA394222556IFT140c.4198G>T (p.Glu1400Ter)
c.1780G>T (p.Glu594Ter)
c.*2636G>T (n.*2636G>T)
n.4022G>T
c.1831G>T (p.Glu611Ter)
c.3952G>T (p.Glu1318Ter)
c.3223G>T (p.Glu1075Ter)
c.2383G>T (p.Glu795Ter)
16g.1511135C>GCA394222557IFT140c.4198G>C (p.Glu1400Gln)
c.1780G>C (p.Glu594Gln)
c.*2636G>C (n.*2636G>C)
n.4022G>C
c.1831G>C (p.Glu611Gln)
c.3952G>C (p.Glu1318Gln)
c.3223G>C (p.Glu1075Gln)
c.2383G>C (p.Glu795Gln)
16g.1511135C>TCA394222558IFT140c.4198G>A (p.Glu1400Lys)
c.1780G>A (p.Glu594Lys)
c.*2636G>A (n.*2636G>A)
n.4022G>A
c.1831G>A (p.Glu611Lys)
c.3952G>A (p.Glu1318Lys)
c.3223G>A (p.Glu1075Lys)
c.2383G>A (p.Glu795Lys)
16g.1511136C>ACA493031678IFT140c.4197G>T (p.Leu1399=)
c.1779G>T (p.Leu593=)
c.*2635G>T (n.*2635G>T)
n.4021G>T
c.1830G>T (p.Leu610=)
c.3951G>T (p.Leu1317=)
c.3222G>T (p.Leu1074=)
c.2382G>T (p.Leu794=)
gnomAD v4
16g.1511136C>GCA493031683IFT140c.4197G>C (p.Leu1399=)
c.1779G>C (p.Leu593=)
c.*2635G>C (n.*2635G>C)
n.4021G>C
c.1830G>C (p.Leu610=)
c.3951G>C (p.Leu1317=)
c.3222G>C (p.Leu1074=)
c.2382G>C (p.Leu794=)
16g.1511136C>TCA493031684IFT140c.4197G>A (p.Leu1399=)
c.1779G>A (p.Leu593=)
c.*2635G>A (n.*2635G>A)
n.4021G>A
c.1830G>A (p.Leu610=)
c.3951G>A (p.Leu1317=)
c.3222G>A (p.Leu1074=)
c.2382G>A (p.Leu794=)
16g.1511137A=CA2201718453IFT140c.4196T= (p.Leu1399=)
c.1778T= (p.Leu593=)
c.*2634T= (n.*2634T=)
n.4020T=
c.1829T= (p.Leu610=)
c.3950T= (p.Leu1317=)
c.3221T= (p.Leu1074=)
c.2381T= (p.Leu794=)
16g.1511137A>CCA394222559IFT140c.4196T>G (p.Leu1399Arg)
c.1778T>G (p.Leu593Arg)
c.*2634T>G (n.*2634T>G)
n.4020T>G
c.1829T>G (p.Leu610Arg)
c.3950T>G (p.Leu1317Arg)
c.3221T>G (p.Leu1074Arg)
c.2381T>G (p.Leu794Arg)
16g.1511137A>GCA7812832IFT140c.4196T>C (p.Leu1399Pro)
c.1778T>C (p.Leu593Pro)
c.*2634T>C (n.*2634T>C)
n.4020T>C
c.1829T>C (p.Leu610Pro)
c.3950T>C (p.Leu1317Pro)
c.3221T>C (p.Leu1074Pro)
c.2381T>C (p.Leu794Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511137A>TCA394222560IFT140c.4196T>A (p.Leu1399Gln)
c.1778T>A (p.Leu593Gln)
c.*2634T>A (n.*2634T>A)
n.4020T>A
c.1829T>A (p.Leu610Gln)
c.3950T>A (p.Leu1317Gln)
c.3221T>A (p.Leu1074Gln)
c.2381T>A (p.Leu794Gln)
16g.1511138G>ACA276668370IFT140c.4195C>T (p.Leu1399=)
c.1777C>T (p.Leu593=)
c.*2633C>T (n.*2633C>T)
n.4019C>T
c.1828C>T (p.Leu610=)
c.3949C>T (p.Leu1317=)
c.3220C>T (p.Leu1074=)
c.2380C>T (p.Leu794=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1511138G>CCA394222561IFT140c.4195C>G (p.Leu1399Val)
c.1777C>G (p.Leu593Val)
c.*2633C>G (n.*2633C>G)
n.4019C>G
c.1828C>G (p.Leu610Val)
c.3949C>G (p.Leu1317Val)
c.3220C>G (p.Leu1074Val)
c.2380C>G (p.Leu794Val)
16g.1511138G=CA2201718454IFT140c.4195C= (p.Leu1399=)
c.1777C= (p.Leu593=)
c.*2633C= (n.*2633C=)
n.4019C=
c.1828C= (p.Leu610=)
c.3949C= (p.Leu1317=)
c.3220C= (p.Leu1074=)
c.2380C= (p.Leu794=)
16g.1511138G>TCA394222562IFT140c.4195C>A (p.Leu1399Met)
c.1777C>A (p.Leu593Met)
c.*2633C>A (n.*2633C>A)
n.4019C>A
c.1828C>A (p.Leu610Met)
c.3949C>A (p.Leu1317Met)
c.3220C>A (p.Leu1074Met)
c.2380C>A (p.Leu794Met)
gnomAD v4
16g.1511139G>ACA493031685IFT140c.4194C>T (p.Phe1398=)
c.1776C>T (p.Phe592=)
c.*2632C>T (n.*2632C>T)
n.4018C>T
c.1827C>T (p.Phe609=)
c.3948C>T (p.Phe1316=)
c.3219C>T (p.Phe1073=)
c.2379C>T (p.Phe793=)
16g.1511139G>CCA394222563IFT140c.4194C>G (p.Phe1398Leu)
c.1776C>G (p.Phe592Leu)
c.*2632C>G (n.*2632C>G)
n.4018C>G
c.1827C>G (p.Phe609Leu)
c.3948C>G (p.Phe1316Leu)
c.3219C>G (p.Phe1073Leu)
c.2379C>G (p.Phe793Leu)
16g.1511139G=CA2201718455IFT140c.4194C= (p.Phe1398=)
c.1776C= (p.Phe592=)
c.*2632C= (n.*2632C=)
n.4018C=
c.1827C= (p.Phe609=)
c.3948C= (p.Phe1316=)
c.3219C= (p.Phe1073=)
c.2379C= (p.Phe793=)
16g.1511139G>TCA276668371IFT140c.4194C>A (p.Phe1398Leu)
c.1776C>A (p.Phe592Leu)
c.*2632C>A (n.*2632C>A)
n.4018C>A
c.1827C>A (p.Phe609Leu)
c.3948C>A (p.Phe1316Leu)
c.3219C>A (p.Phe1073Leu)
c.2379C>A (p.Phe793Leu)
dbSNP gnomAD v4
16g.1511140A>CCA394222566IFT140c.4193T>G (p.Phe1398Cys)
c.1775T>G (p.Phe592Cys)
c.*2631T>G (n.*2631T>G)
n.4017T>G
c.1826T>G (p.Phe609Cys)
c.3947T>G (p.Phe1316Cys)
c.3218T>G (p.Phe1073Cys)
c.2378T>G (p.Phe793Cys)
16g.1511140A>GCA394222564IFT140c.4193T>C (p.Phe1398Ser)
c.1775T>C (p.Phe592Ser)
c.*2631T>C (n.*2631T>C)
n.4017T>C
c.1826T>C (p.Phe609Ser)
c.3947T>C (p.Phe1316Ser)
c.3218T>C (p.Phe1073Ser)
c.2378T>C (p.Phe793Ser)
16g.1511140A>TCA394222565IFT140c.4193T>A (p.Phe1398Tyr)
c.1775T>A (p.Phe592Tyr)
c.*2631T>A (n.*2631T>A)
n.4017T>A
c.1826T>A (p.Phe609Tyr)
c.3947T>A (p.Phe1316Tyr)
c.3218T>A (p.Phe1073Tyr)
c.2378T>A (p.Phe793Tyr)
16g.1511141A=CA2201718456IFT140c.4192T= (p.Phe1398=)
c.1774T= (p.Phe592=)
c.*2630T= (n.*2630T=)
n.4016T=
c.1825T= (p.Phe609=)
c.3946T= (p.Phe1316=)
c.3217T= (p.Phe1073=)
c.2377T= (p.Phe793=)
16g.1511141A>CCA394222567IFT140c.4192T>G (p.Phe1398Val)
c.1774T>G (p.Phe592Val)
c.*2630T>G (n.*2630T>G)
n.4016T>G
c.1825T>G (p.Phe609Val)
c.3946T>G (p.Phe1316Val)
c.3217T>G (p.Phe1073Val)
c.2377T>G (p.Phe793Val)
gnomAD v4
16g.1511141A>GCA394222568IFT140c.4192T>C (p.Phe1398Leu)
c.1774T>C (p.Phe592Leu)
c.*2630T>C (n.*2630T>C)
n.4016T>C
c.1825T>C (p.Phe609Leu)
c.3946T>C (p.Phe1316Leu)
c.3217T>C (p.Phe1073Leu)
c.2377T>C (p.Phe793Leu)
dbSNP
16g.1511141A>TCA394222569IFT140c.4192T>A (p.Phe1398Ile)
c.1774T>A (p.Phe592Ile)
c.*2630T>A (n.*2630T>A)
n.4016T>A
c.1825T>A (p.Phe609Ile)
c.3946T>A (p.Phe1316Ile)
c.3217T>A (p.Phe1073Ile)
c.2377T>A (p.Phe793Ile)
16g.1511142T>ACA394222570IFT140c.4191A>T (p.Arg1397Ser)
c.1773A>T (p.Arg591Ser)
c.*2629A>T (n.*2629A>T)
n.4015A>T
c.1824A>T (p.Arg608Ser)
c.3945A>T (p.Arg1315Ser)
c.3216A>T (p.Arg1072Ser)
c.2376A>T (p.Arg792Ser)
16g.1511142T>CCA493031697IFT140c.4191A>G (p.Arg1397=)
c.1773A>G (p.Arg591=)
c.*2629A>G (n.*2629A>G)
n.4015A>G
c.1824A>G (p.Arg608=)
c.3945A>G (p.Arg1315=)
c.3216A>G (p.Arg1072=)
c.2376A>G (p.Arg792=)
16g.1511142T>GCA394222571IFT140c.4191A>C (p.Arg1397Ser)
c.1773A>C (p.Arg591Ser)
c.*2629A>C (n.*2629A>C)
n.4015A>C
c.1824A>C (p.Arg608Ser)
c.3945A>C (p.Arg1315Ser)
c.3216A>C (p.Arg1072Ser)
c.2376A>C (p.Arg792Ser)
16g.1511143C>ACA394222572IFT140c.4190G>T (p.Arg1397Ile)
c.1772G>T (p.Arg591Ile)
c.*2628G>T (n.*2628G>T)
n.4014G>T
c.1823G>T (p.Arg608Ile)
c.3944G>T (p.Arg1315Ile)
c.3215G>T (p.Arg1072Ile)
c.2375G>T (p.Arg792Ile)
gnomAD v4
16g.1511143C=CA2201718457IFT140c.4190G= (p.Arg1397=)
c.1772G= (p.Arg591=)
c.*2628G= (n.*2628G=)
n.4014G=
c.1823G= (p.Arg608=)
c.3944G= (p.Arg1315=)
c.3215G= (p.Arg1072=)
c.2375G= (p.Arg792=)
16g.1511143C>GCA394222573IFT140c.4190G>C (p.Arg1397Thr)
c.1772G>C (p.Arg591Thr)
c.*2628G>C (n.*2628G>C)
n.4014G>C
c.1823G>C (p.Arg608Thr)
c.3944G>C (p.Arg1315Thr)
c.3215G>C (p.Arg1072Thr)
c.2375G>C (p.Arg792Thr)
16g.1511143C>TCA7812833IFT140c.4190G>A (p.Arg1397Lys)
c.1772G>A (p.Arg591Lys)
c.*2628G>A (n.*2628G>A)
n.4014G>A
c.1823G>A (p.Arg608Lys)
c.3944G>A (p.Arg1315Lys)
c.3215G>A (p.Arg1072Lys)
c.2375G>A (p.Arg792Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511144T>ACA394222574IFT140c.4189A>T (p.Arg1397Ter)
c.1771A>T (p.Arg591Ter)
c.*2627A>T (n.*2627A>T)
n.4013A>T
c.1822A>T (p.Arg608Ter)
c.3943A>T (p.Arg1315Ter)
c.3214A>T (p.Arg1072Ter)
c.2374A>T (p.Arg792Ter)
16g.1511144T>CCA394222575IFT140c.4189A>G (p.Arg1397Gly)
c.1771A>G (p.Arg591Gly)
c.*2627A>G (n.*2627A>G)
n.4013A>G
c.1822A>G (p.Arg608Gly)
c.3943A>G (p.Arg1315Gly)
c.3214A>G (p.Arg1072Gly)
c.2374A>G (p.Arg792Gly)
dbSNP gnomAD v2 gnomAD v4
16g.1511144T>GCA493031710IFT140c.4189A>C (p.Arg1397=)
c.1771A>C (p.Arg591=)
c.*2627A>C (n.*2627A>C)
n.4013A>C
c.1822A>C (p.Arg608=)
c.3943A>C (p.Arg1315=)
c.3214A>C (p.Arg1072=)
c.2374A>C (p.Arg792=)
16g.1511144T=CA2201718458IFT140c.4189A= (p.Arg1397=)
c.1771A= (p.Arg591=)
c.*2627A= (n.*2627A=)
n.4013A=
c.1822A= (p.Arg608=)
c.3943A= (p.Arg1315=)
c.3214A= (p.Arg1072=)
c.2374A= (p.Arg792=)
16g.1511145G>ACA493031711IFT140c.4188C>T (p.Tyr1396=)
c.1770C>T (p.Tyr590=)
c.*2626C>T (n.*2626C>T)
n.4012C>T
c.1821C>T (p.Tyr607=)
c.3942C>T (p.Tyr1314=)
c.3213C>T (p.Tyr1071=)
c.2373C>T (p.Tyr791=)
dbSNP gnomAD v2 gnomAD v4
16g.1511145G>CCA394222576IFT140c.4188C>G (p.Tyr1396Ter)
c.1770C>G (p.Tyr590Ter)
c.*2626C>G (n.*2626C>G)
n.4012C>G
c.1821C>G (p.Tyr607Ter)
c.3942C>G (p.Tyr1314Ter)
c.3213C>G (p.Tyr1071Ter)
c.2373C>G (p.Tyr791Ter)
16g.1511145G=CA2201718459IFT140c.4188C= (p.Tyr1396=)
c.1770C= (p.Tyr590=)
c.*2626C= (n.*2626C=)
n.4012C=
c.1821C= (p.Tyr607=)
c.3942C= (p.Tyr1314=)
c.3213C= (p.Tyr1071=)
c.2373C= (p.Tyr791=)
16g.1511145G>TCA394222577IFT140c.4188C>A (p.Tyr1396Ter)
c.1770C>A (p.Tyr590Ter)
c.*2626C>A (n.*2626C>A)
n.4012C>A
c.1821C>A (p.Tyr607Ter)
c.3942C>A (p.Tyr1314Ter)
c.3213C>A (p.Tyr1071Ter)
c.2373C>A (p.Tyr791Ter)
16g.1511146T>ACA394222579IFT140c.4187A>T (p.Tyr1396Phe)
c.1769A>T (p.Tyr590Phe)
c.*2625A>T (n.*2625A>T)
n.4011A>T
c.1820A>T (p.Tyr607Phe)
c.3941A>T (p.Tyr1314Phe)
c.3212A>T (p.Tyr1071Phe)
c.2372A>T (p.Tyr791Phe)
16g.1511146T>CCA394222580IFT140c.4187A>G (p.Tyr1396Cys)
c.1769A>G (p.Tyr590Cys)
c.*2625A>G (n.*2625A>G)
n.4011A>G
c.1820A>G (p.Tyr607Cys)
c.3941A>G (p.Tyr1314Cys)
c.3212A>G (p.Tyr1071Cys)
c.2372A>G (p.Tyr791Cys)
ClinVar dbSNP gnomAD v4
16g.1511146T>GCA394222578IFT140c.4187A>C (p.Tyr1396Ser)
c.1769A>C (p.Tyr590Ser)
c.*2625A>C (n.*2625A>C)
n.4011A>C
c.1820A>C (p.Tyr607Ser)
c.3941A>C (p.Tyr1314Ser)
c.3212A>C (p.Tyr1071Ser)
c.2372A>C (p.Tyr791Ser)
16g.1511146T=CA2201718460IFT140c.4187A= (p.Tyr1396=)
c.1769A= (p.Tyr590=)
c.*2625A= (n.*2625A=)
n.4011A=
c.1820A= (p.Tyr607=)
c.3941A= (p.Tyr1314=)
c.3212A= (p.Tyr1071=)
c.2372A= (p.Tyr791=)
16g.1511147A=CA2201718461IFT140c.4186T= (p.Tyr1396=)
c.1768T= (p.Tyr590=)
c.*2624T= (n.*2624T=)
n.4010T=
c.1819T= (p.Tyr607=)
c.3940T= (p.Tyr1314=)
c.3211T= (p.Tyr1071=)
c.2371T= (p.Tyr791=)
16g.1511147A>CCA394222583IFT140c.4186T>G (p.Tyr1396Asp)
c.1768T>G (p.Tyr590Asp)
c.*2624T>G (n.*2624T>G)
n.4010T>G
c.1819T>G (p.Tyr607Asp)
c.3940T>G (p.Tyr1314Asp)
c.3211T>G (p.Tyr1071Asp)
c.2371T>G (p.Tyr791Asp)
16g.1511147A>GCA394222581IFT140c.4186T>C (p.Tyr1396His)
c.1768T>C (p.Tyr590His)
c.*2624T>C (n.*2624T>C)
n.4010T>C
c.1819T>C (p.Tyr607His)
c.3940T>C (p.Tyr1314His)
c.3211T>C (p.Tyr1071His)
c.2371T>C (p.Tyr791His)
dbSNP gnomAD v4
16g.1511147A>TCA394222582IFT140c.4186T>A (p.Tyr1396Asn)
c.1768T>A (p.Tyr590Asn)
c.*2624T>A (n.*2624T>A)
n.4010T>A
c.1819T>A (p.Tyr607Asn)
c.3940T>A (p.Tyr1314Asn)
c.3211T>A (p.Tyr1071Asn)
c.2371T>A (p.Tyr791Asn)
16g.1511148G>ACA493031725IFT140c.4185C>T (p.Ala1395=)
c.1767C>T (p.Ala589=)
c.*2623C>T (n.*2623C>T)
n.4009C>T
c.1818C>T (p.Ala606=)
c.3939C>T (p.Ala1313=)
c.3210C>T (p.Ala1070=)
c.2370C>T (p.Ala790=)
16g.1511148G>CCA493031724IFT140c.4185C>G (p.Ala1395=)
c.1767C>G (p.Ala589=)
c.*2623C>G (n.*2623C>G)
n.4009C>G
c.1818C>G (p.Ala606=)
c.3939C>G (p.Ala1313=)
c.3210C>G (p.Ala1070=)
c.2370C>G (p.Ala790=)
16g.1511148G>TCA493031723IFT140c.4185C>A (p.Ala1395=)
c.1767C>A (p.Ala589=)
c.*2623C>A (n.*2623C>A)
n.4009C>A
c.1818C>A (p.Ala606=)
c.3939C>A (p.Ala1313=)
c.3210C>A (p.Ala1070=)
c.2370C>A (p.Ala790=)
16g.1511149G>ACA394222584IFT140c.4184C>T (p.Ala1395Val)
c.1766C>T (p.Ala589Val)
c.*2622C>T (n.*2622C>T)
n.4008C>T
c.1817C>T (p.Ala606Val)
c.3938C>T (p.Ala1313Val)
c.3209C>T (p.Ala1070Val)
c.2369C>T (p.Ala790Val)
16g.1511149G>CCA394222585IFT140c.4184C>G (p.Ala1395Gly)
c.1766C>G (p.Ala589Gly)
c.*2622C>G (n.*2622C>G)
n.4008C>G
c.1817C>G (p.Ala606Gly)
c.3938C>G (p.Ala1313Gly)
c.3209C>G (p.Ala1070Gly)
c.2369C>G (p.Ala790Gly)
16g.1511149G>TCA394222586IFT140c.4184C>A (p.Ala1395Asp)
c.1766C>A (p.Ala589Asp)
c.*2622C>A (n.*2622C>A)
n.4008C>A
c.1817C>A (p.Ala606Asp)
c.3938C>A (p.Ala1313Asp)
c.3209C>A (p.Ala1070Asp)
c.2369C>A (p.Ala790Asp)
gnomAD v4
16g.1511150C>ACA394222587IFT140c.4183G>T (p.Ala1395Ser)
c.1765G>T (p.Ala589Ser)
c.*2621G>T (n.*2621G>T)
n.4007G>T
c.1816G>T (p.Ala606Ser)
c.3937G>T (p.Ala1313Ser)
c.3208G>T (p.Ala1070Ser)
c.2368G>T (p.Ala790Ser)
gnomAD v4
16g.1511150C>GCA394222588IFT140c.4183G>C (p.Ala1395Pro)
c.1765G>C (p.Ala589Pro)
c.*2621G>C (n.*2621G>C)
n.4007G>C
c.1816G>C (p.Ala606Pro)
c.3937G>C (p.Ala1313Pro)
c.3208G>C (p.Ala1070Pro)
c.2368G>C (p.Ala790Pro)
16g.1511150C>TCA394222589IFT140c.4183G>A (p.Ala1395Thr)
c.1765G>A (p.Ala589Thr)
c.*2621G>A (n.*2621G>A)
n.4007G>A
c.1816G>A (p.Ala606Thr)
c.3937G>A (p.Ala1313Thr)
c.3208G>A (p.Ala1070Thr)
c.2368G>A (p.Ala790Thr)
gnomAD v4
16g.1511151C>ACA394222590IFT140c.4183-1G>T (n.4183-1G>T)
c.1765-1G>T (n.1765-1G>T)
c.*2621-1G>T (n.*2621-1G>T)
n.4007-1G>T
c.1816-1G>T (n.1816-1G>T)
c.3937-1G>T (n.3937-1G>T)
c.3208-1G>T (n.3208-1G>T)
c.2368-1G>T (n.2368-1G>T)
16g.1511151C>GCA394222591IFT140c.4183-1G>C (n.4183-1G>C)
c.1765-1G>C (n.1765-1G>C)
c.*2621-1G>C (n.*2621-1G>C)
n.4007-1G>C
c.1816-1G>C (n.1816-1G>C)
c.3937-1G>C (n.3937-1G>C)
c.3208-1G>C (n.3208-1G>C)
c.2368-1G>C (n.2368-1G>C)
16g.1511151C>TCA394222592IFT140c.4183-1G>A (n.4183-1G>A)
c.1765-1G>A (n.1765-1G>A)
c.*2621-1G>A (n.*2621-1G>A)
n.4007-1G>A
c.1816-1G>A (n.1816-1G>A)
c.3937-1G>A (n.3937-1G>A)
c.3208-1G>A (n.3208-1G>A)
c.2368-1G>A (n.2368-1G>A)
16g.1511152T>ACA394222593IFT140c.4183-2A>T (n.4183-2A>T)
c.1765-2A>T (n.1765-2A>T)
c.*2621-2A>T (n.*2621-2A>T)
n.4007-2A>T
c.1816-2A>T (n.1816-2A>T)
c.3937-2A>T (n.3937-2A>T)
c.3208-2A>T (n.3208-2A>T)
c.2368-2A>T (n.2368-2A>T)
16g.1511152T>CCA394222594IFT140c.4183-2A>G (n.4183-2A>G)
c.1765-2A>G (n.1765-2A>G)
c.*2621-2A>G (n.*2621-2A>G)
n.4007-2A>G
c.1816-2A>G (n.1816-2A>G)
c.3937-2A>G (n.3937-2A>G)
c.3208-2A>G (n.3208-2A>G)
c.2368-2A>G (n.2368-2A>G)
gnomAD v4
16g.1511152T>GCA394222595IFT140c.4183-2A>C (n.4183-2A>C)
c.1765-2A>C (n.1765-2A>C)
c.*2621-2A>C (n.*2621-2A>C)
n.4007-2A>C
c.1816-2A>C (n.1816-2A>C)
c.3937-2A>C (n.3937-2A>C)
c.3208-2A>C (n.3208-2A>C)
c.2368-2A>C (n.2368-2A>C)
16g.1511153G>ACA620700872IFT140c.4183-3C>T (n.4183-3C>T)
c.1765-3C>T (n.1765-3C>T)
c.*2621-3C>T (n.*2621-3C>T)
n.4007-3C>T
c.1816-3C>T (n.1816-3C>T)
c.3937-3C>T (n.3937-3C>T)
c.3208-3C>T (n.3208-3C>T)
c.2368-3C>T (n.2368-3C>T)
dbSNP gnomAD v2
16g.1511153G=CA2201718462IFT140c.4183-3C= (n.4183-3C=)
c.1765-3C= (n.1765-3C=)
c.*2621-3C= (n.*2621-3C=)
n.4007-3C=
c.1816-3C= (n.1816-3C=)
c.3937-3C= (n.3937-3C=)
c.3208-3C= (n.3208-3C=)
c.2368-3C= (n.2368-3C=)
16g.1511153G>TCA2631007080IFT140c.4183-3C>A (n.4183-3C>A)
c.1765-3C>A (n.1765-3C>A)
c.*2621-3C>A (n.*2621-3C>A)
n.4007-3C>A
c.1816-3C>A (n.1816-3C>A)
c.3937-3C>A (n.3937-3C>A)
c.3208-3C>A (n.3208-3C>A)
c.2368-3C>A (n.2368-3C>A)
gnomAD v4
16g.1511156delCA2575869170IFT140c.4183-3del (n.4183-3del)
c.1765-3del (n.1765-3del)
c.*2621-3del (n.*2621-3del)
n.4007-3del
c.1816-3del (n.1816-3del)
c.3937-3del (n.3937-3del)
c.3208-3del (n.3208-3del)
c.2368-3del (n.2368-3del)
gnomAD v4
16g.1511154G>ACA2631007083IFT140c.4183-4C>T (n.4183-4C>T)
c.1765-4C>T (n.1765-4C>T)
c.*2621-4C>T (n.*2621-4C>T)
n.4007-4C>T
c.1816-4C>T (n.1816-4C>T)
c.3937-4C>T (n.3937-4C>T)
c.3208-4C>T (n.3208-4C>T)
c.2368-4C>T (n.2368-4C>T)
dbSNP gnomAD v4
16g.1511154G>TCA2631007091IFT140c.4183-4C>A (n.4183-4C>A)
c.1765-4C>A (n.1765-4C>A)
c.*2621-4C>A (n.*2621-4C>A)
n.4007-4C>A
c.1816-4C>A (n.1816-4C>A)
c.3937-4C>A (n.3937-4C>A)
c.3208-4C>A (n.3208-4C>A)
c.2368-4C>A (n.2368-4C>A)
gnomAD v4
16g.1511155G>TCA2631007095IFT140c.4183-5C>A (n.4183-5C>A)
c.1765-5C>A (n.1765-5C>A)
c.*2621-5C>A (n.*2621-5C>A)
n.4007-5C>A
c.1816-5C>A (n.1816-5C>A)
c.3937-5C>A (n.3937-5C>A)
c.3208-5C>A (n.3208-5C>A)
c.2368-5C>A (n.2368-5C>A)
gnomAD v4
16g.1511156G>ACA620700874IFT140c.4183-6C>T (n.4183-6C>T)
c.1765-6C>T (n.1765-6C>T)
c.*2621-6C>T (n.*2621-6C>T)
n.4007-6C>T
c.1816-6C>T (n.1816-6C>T)
c.3937-6C>T (n.3937-6C>T)
c.3208-6C>T (n.3208-6C>T)
c.2368-6C>T (n.2368-6C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1511156G=CA2201718463IFT140c.4183-6C= (n.4183-6C=)
c.1765-6C= (n.1765-6C=)
c.*2621-6C= (n.*2621-6C=)
n.4007-6C=
c.1816-6C= (n.1816-6C=)
c.3937-6C= (n.3937-6C=)
c.3208-6C= (n.3208-6C=)
c.2368-6C= (n.2368-6C=)
16g.1511156G>TCA2631007101IFT140c.4183-6C>A (n.4183-6C>A)
c.1765-6C>A (n.1765-6C>A)
c.*2621-6C>A (n.*2621-6C>A)
n.4007-6C>A
c.1816-6C>A (n.1816-6C>A)
c.3937-6C>A (n.3937-6C>A)
c.3208-6C>A (n.3208-6C>A)
c.2368-6C>A (n.2368-6C>A)
gnomAD v4
16g.1511157C>ACA2631007104IFT140c.4183-7G>T (n.4183-7G>T)
c.1765-7G>T (n.1765-7G>T)
c.*2621-7G>T (n.*2621-7G>T)
n.4007-7G>T
c.1816-7G>T (n.1816-7G>T)
c.3937-7G>T (n.3937-7G>T)
c.3208-7G>T (n.3208-7G>T)
c.2368-7G>T (n.2368-7G>T)
gnomAD v4
16g.1511157C>TCA2631007105IFT140c.4183-7G>A (n.4183-7G>A)
c.1765-7G>A (n.1765-7G>A)
c.*2621-7G>A (n.*2621-7G>A)
n.4007-7G>A
c.1816-7G>A (n.1816-7G>A)
c.3937-7G>A (n.3937-7G>A)
c.3208-7G>A (n.3208-7G>A)
c.2368-7G>A (n.2368-7G>A)
gnomAD v4
16g.1511158A=CA2201718464IFT140c.4183-8T= (n.4183-8T=)
c.1765-8T= (n.1765-8T=)
c.*2621-8T= (n.*2621-8T=)
n.4007-8T=
c.1816-8T= (n.1816-8T=)
c.3937-8T= (n.3937-8T=)
c.3208-8T= (n.3208-8T=)
c.2368-8T= (n.2368-8T=)
16g.1511158A>CCA2631007106IFT140c.4183-8T>G (n.4183-8T>G)
c.1765-8T>G (n.1765-8T>G)
c.*2621-8T>G (n.*2621-8T>G)
n.4007-8T>G
c.1816-8T>G (n.1816-8T>G)
c.3937-8T>G (n.3937-8T>G)
c.3208-8T>G (n.3208-8T>G)
c.2368-8T>G (n.2368-8T>G)
gnomAD v4
16g.1511158A>GCA620700875IFT140c.4183-8T>C (n.4183-8T>C)
c.1765-8T>C (n.1765-8T>C)
c.*2621-8T>C (n.*2621-8T>C)
n.4007-8T>C
c.1816-8T>C (n.1816-8T>C)
c.3937-8T>C (n.3937-8T>C)
c.3208-8T>C (n.3208-8T>C)
c.2368-8T>C (n.2368-8T>C)
dbSNP gnomAD v2 gnomAD v4
16g.1511159G>ACA2631007109IFT140c.4183-9C>T (n.4183-9C>T)
c.1765-9C>T (n.1765-9C>T)
c.*2621-9C>T (n.*2621-9C>T)
n.4007-9C>T
c.1816-9C>T (n.1816-9C>T)
c.3937-9C>T (n.3937-9C>T)
c.3208-9C>T (n.3208-9C>T)
c.2368-9C>T (n.2368-9C>T)
gnomAD v4
16g.1511159G>CCA2573054140IFT140c.4183-9C>G (n.4183-9C>G)
c.1765-9C>G (n.1765-9C>G)
c.*2621-9C>G (n.*2621-9C>G)
n.4007-9C>G
c.1816-9C>G (n.1816-9C>G)
c.3937-9C>G (n.3937-9C>G)
c.3208-9C>G (n.3208-9C>G)
c.2368-9C>G (n.2368-9C>G)
ClinVar dbSNP
16g.1511159G>TCA2631007110IFT140c.4183-9C>A (n.4183-9C>A)
c.1765-9C>A (n.1765-9C>A)
c.*2621-9C>A (n.*2621-9C>A)
n.4007-9C>A
c.1816-9C>A (n.1816-9C>A)
c.3937-9C>A (n.3937-9C>A)
c.3208-9C>A (n.3208-9C>A)
c.2368-9C>A (n.2368-9C>A)
gnomAD v4
16g.1511160A>GCA2631007113IFT140c.4183-10T>C (n.4183-10T>C)
c.1765-10T>C (n.1765-10T>C)
c.*2621-10T>C (n.*2621-10T>C)
n.4007-10T>C
c.1816-10T>C (n.1816-10T>C)
c.3937-10T>C (n.3937-10T>C)
c.3208-10T>C (n.3208-10T>C)
c.2368-10T>C (n.2368-10T>C)
gnomAD v4
16g.1511161G>ACA7812834IFT140c.4183-11C>T (n.4183-11C>T)
c.1765-11C>T (n.1765-11C>T)
c.*2621-11C>T (n.*2621-11C>T)
n.4007-11C>T
c.1816-11C>T (n.1816-11C>T)
c.3937-11C>T (n.3937-11C>T)
c.3208-11C>T (n.3208-11C>T)
c.2368-11C>T (n.2368-11C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511161G=CA2201718465IFT140c.4183-11C= (n.4183-11C=)
c.1765-11C= (n.1765-11C=)
c.*2621-11C= (n.*2621-11C=)
n.4007-11C=
c.1816-11C= (n.1816-11C=)
c.3937-11C= (n.3937-11C=)
c.3208-11C= (n.3208-11C=)
c.2368-11C= (n.2368-11C=)
16g.1511162delCA2631007116IFT140c.4183-11del (n.4183-11del)
c.1765-11del (n.1765-11del)
c.*2621-11del (n.*2621-11del)
n.4007-11del
c.1816-11del (n.1816-11del)
c.3937-11del (n.3937-11del)
c.3208-11del (n.3208-11del)
c.2368-11del (n.2368-11del)
gnomAD v4
16g.1511162G>ACA620700876IFT140c.4183-12C>T (n.4183-12C>T)
c.1765-12C>T (n.1765-12C>T)
c.*2621-12C>T (n.*2621-12C>T)
n.4007-12C>T
c.1816-12C>T (n.1816-12C>T)
c.3937-12C>T (n.3937-12C>T)
c.3208-12C>T (n.3208-12C>T)
c.2368-12C>T (n.2368-12C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511162G>CCA2201718467IFT140c.4183-12C>G (n.4183-12C>G)
c.1765-12C>G (n.1765-12C>G)
c.*2621-12C>G (n.*2621-12C>G)
n.4007-12C>G
c.1816-12C>G (n.1816-12C>G)
c.3937-12C>G (n.3937-12C>G)
c.3208-12C>G (n.3208-12C>G)
c.2368-12C>G (n.2368-12C>G)
ClinVar dbSNP gnomAD v4
16g.1511162G=CA2201718466IFT140c.4183-12C= (n.4183-12C=)
c.1765-12C= (n.1765-12C=)
c.*2621-12C= (n.*2621-12C=)
n.4007-12C=
c.1816-12C= (n.1816-12C=)
c.3937-12C= (n.3937-12C=)
c.3208-12C= (n.3208-12C=)
c.2368-12C= (n.2368-12C=)
16g.1511163A=CA2201718468IFT140c.4183-13T= (n.4183-13T=)
c.1765-13T= (n.1765-13T=)
c.*2621-13T= (n.*2621-13T=)
n.4007-13T=
c.1816-13T= (n.1816-13T=)
c.3937-13T= (n.3937-13T=)
c.3208-13T= (n.3208-13T=)
c.2368-13T= (n.2368-13T=)
16g.1511163A>CCA2201718469IFT140c.4183-13T>G (n.4183-13T>G)
c.1765-13T>G (n.1765-13T>G)
c.*2621-13T>G (n.*2621-13T>G)
n.4007-13T>G
c.1816-13T>G (n.1816-13T>G)
c.3937-13T>G (n.3937-13T>G)
c.3208-13T>G (n.3208-13T>G)
c.2368-13T>G (n.2368-13T>G)
dbSNP
16g.1511163A>GCA2631007139IFT140c.4183-13T>C (n.4183-13T>C)
c.1765-13T>C (n.1765-13T>C)
c.*2621-13T>C (n.*2621-13T>C)
n.4007-13T>C
c.1816-13T>C (n.1816-13T>C)
c.3937-13T>C (n.3937-13T>C)
c.3208-13T>C (n.3208-13T>C)
c.2368-13T>C (n.2368-13T>C)
gnomAD v4
16g.1511164G>ACA2201718470IFT140c.4183-14C>T (n.4183-14C>T)
c.1765-14C>T (n.1765-14C>T)
c.*2621-14C>T (n.*2621-14C>T)
n.4007-14C>T
c.1816-14C>T (n.1816-14C>T)
c.3937-14C>T (n.3937-14C>T)
c.3208-14C>T (n.3208-14C>T)
c.2368-14C>T (n.2368-14C>T)
dbSNP gnomAD v4
16g.1511164G=CA2201718471IFT140c.4183-14C= (n.4183-14C=)
c.1765-14C= (n.1765-14C=)
c.*2621-14C= (n.*2621-14C=)
n.4007-14C=
c.1816-14C= (n.1816-14C=)
c.3937-14C= (n.3937-14C=)
c.3208-14C= (n.3208-14C=)
c.2368-14C= (n.2368-14C=)
16g.1511164G>TCA276668375IFT140c.4183-14C>A (n.4183-14C>A)
c.1765-14C>A (n.1765-14C>A)
c.*2621-14C>A (n.*2621-14C>A)
n.4007-14C>A
c.1816-14C>A (n.1816-14C>A)
c.3937-14C>A (n.3937-14C>A)
c.3208-14C>A (n.3208-14C>A)
c.2368-14C>A (n.2368-14C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511165C>ACA2631007151IFT140c.4183-15G>T (n.4183-15G>T)
c.1765-15G>T (n.1765-15G>T)
c.*2621-15G>T (n.*2621-15G>T)
n.4007-15G>T
c.1816-15G>T (n.1816-15G>T)
c.3937-15G>T (n.3937-15G>T)
c.3208-15G>T (n.3208-15G>T)
c.2368-15G>T (n.2368-15G>T)
gnomAD v4
16g.1511166A=CA2201718472IFT140c.4183-16T= (n.4183-16T=)
c.1765-16T= (n.1765-16T=)
c.*2621-16T= (n.*2621-16T=)
n.4007-16T=
c.1816-16T= (n.1816-16T=)
c.3937-16T= (n.3937-16T=)
c.3208-16T= (n.3208-16T=)
c.2368-16T= (n.2368-16T=)
16g.1511166A>CCA7812835IFT140c.4183-16T>G (n.4183-16T>G)
c.1765-16T>G (n.1765-16T>G)
c.*2621-16T>G (n.*2621-16T>G)
n.4007-16T>G
c.1816-16T>G (n.1816-16T>G)
c.3937-16T>G (n.3937-16T>G)
c.3208-16T>G (n.3208-16T>G)
c.2368-16T>G (n.2368-16T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511166A>GCA2631007156IFT140c.4183-16T>C (n.4183-16T>C)
c.1765-16T>C (n.1765-16T>C)
c.*2621-16T>C (n.*2621-16T>C)
n.4007-16T>C
c.1816-16T>C (n.1816-16T>C)
c.3937-16T>C (n.3937-16T>C)
c.3208-16T>C (n.3208-16T>C)
c.2368-16T>C (n.2368-16T>C)
gnomAD v4
16g.1511167G>ACA2631007159IFT140c.4183-17C>T (n.4183-17C>T)
c.1765-17C>T (n.1765-17C>T)
c.*2621-17C>T (n.*2621-17C>T)
n.4007-17C>T
c.1816-17C>T (n.1816-17C>T)
c.3937-17C>T (n.3937-17C>T)
c.3208-17C>T (n.3208-17C>T)
c.2368-17C>T (n.2368-17C>T)
gnomAD v4
16g.1511167G>CCA973715166IFT140c.4183-17C>G (n.4183-17C>G)
c.1765-17C>G (n.1765-17C>G)
c.*2621-17C>G (n.*2621-17C>G)
n.4007-17C>G
c.1816-17C>G (n.1816-17C>G)
c.3937-17C>G (n.3937-17C>G)
c.3208-17C>G (n.3208-17C>G)
c.2368-17C>G (n.2368-17C>G)
dbSNP gnomAD v3 gnomAD v4
16g.1511167G=CA2201718473IFT140c.4183-17C= (n.4183-17C=)
c.1765-17C= (n.1765-17C=)
c.*2621-17C= (n.*2621-17C=)
n.4007-17C=
c.1816-17C= (n.1816-17C=)
c.3937-17C= (n.3937-17C=)
c.3208-17C= (n.3208-17C=)
c.2368-17C= (n.2368-17C=)
16g.1511167G>TCA2631007163IFT140c.4183-17C>A (n.4183-17C>A)
c.1765-17C>A (n.1765-17C>A)
c.*2621-17C>A (n.*2621-17C>A)
n.4007-17C>A
c.1816-17C>A (n.1816-17C>A)
c.3937-17C>A (n.3937-17C>A)
c.3208-17C>A (n.3208-17C>A)
c.2368-17C>A (n.2368-17C>A)
gnomAD v4
16g.1511168A>CCA2631007172IFT140c.4183-18T>G (n.4183-18T>G)
c.1765-18T>G (n.1765-18T>G)
c.*2621-18T>G (n.*2621-18T>G)
n.4007-18T>G
c.1816-18T>G (n.1816-18T>G)
c.3937-18T>G (n.3937-18T>G)
c.3208-18T>G (n.3208-18T>G)
c.2368-18T>G (n.2368-18T>G)
gnomAD v4
16g.1511170_1511174delCA2631007169IFT140c.4183-22_4183-18del (n.4183-22_4183-18del)
c.1765-22_1765-18del (n.1765-22_1765-18del)
c.*2621-22_*2621-18del (n.*2621-22_*2621-18del)
n.4007-22_4007-18del
c.1816-22_1816-18del (n.1816-22_1816-18del)
c.3937-22_3937-18del (n.3937-22_3937-18del)
c.3208-22_3208-18del (n.3208-22_3208-18del)
c.2368-22_2368-18del (n.2368-22_2368-18del)
gnomAD v4
16g.1511169C>ACA7812836IFT140c.4183-19G>T (n.4183-19G>T)
c.1765-19G>T (n.1765-19G>T)
c.*2621-19G>T (n.*2621-19G>T)
n.4007-19G>T
c.1816-19G>T (n.1816-19G>T)
c.3937-19G>T (n.3937-19G>T)
c.3208-19G>T (n.3208-19G>T)
c.2368-19G>T (n.2368-19G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511169C=CA2201718474IFT140c.4183-19G= (n.4183-19G=)
c.1765-19G= (n.1765-19G=)
c.*2621-19G= (n.*2621-19G=)
n.4007-19G=
c.1816-19G= (n.1816-19G=)
c.3937-19G= (n.3937-19G=)
c.3208-19G= (n.3208-19G=)
c.2368-19G= (n.2368-19G=)
16g.1511169C>TCA620343057IFT140c.4183-19G>A (n.4183-19G>A)
c.1765-19G>A (n.1765-19G>A)
c.*2621-19G>A (n.*2621-19G>A)
n.4007-19G>A
c.1816-19G>A (n.1816-19G>A)
c.3937-19G>A (n.3937-19G>A)
c.3208-19G>A (n.3208-19G>A)
c.2368-19G>A (n.2368-19G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511170A=CA2201718475IFT140c.4183-20T= (n.4183-20T=)
c.1765-20T= (n.1765-20T=)
c.*2621-20T= (n.*2621-20T=)
n.4007-20T=
c.1816-20T= (n.1816-20T=)
c.3937-20T= (n.3937-20T=)
c.3208-20T= (n.3208-20T=)
c.2368-20T= (n.2368-20T=)
16g.1511170A>GCA7812837IFT140c.4183-20T>C (n.4183-20T>C)
c.1765-20T>C (n.1765-20T>C)
c.*2621-20T>C (n.*2621-20T>C)
n.4007-20T>C
c.1816-20T>C (n.1816-20T>C)
c.3937-20T>C (n.3937-20T>C)
c.3208-20T>C (n.3208-20T>C)
c.2368-20T>C (n.2368-20T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511170A>TCA2631007194IFT140c.4183-20T>A (n.4183-20T>A)
c.1765-20T>A (n.1765-20T>A)
c.*2621-20T>A (n.*2621-20T>A)
n.4007-20T>A
c.1816-20T>A (n.1816-20T>A)
c.3937-20T>A (n.3937-20T>A)
c.3208-20T>A (n.3208-20T>A)
c.2368-20T>A (n.2368-20T>A)
gnomAD v4
16g.1511170_1511171delinsATCA2201718476IFT140c.4183-21_4183-20delinsAT (n.4183-21_4183-20delinsAT)
c.1765-21_1765-20delinsAT (n.1765-21_1765-20delinsAT)
c.*2621-21_*2621-20delinsAT (n.*2621-21_*2621-20delinsAT)
n.4007-21_4007-20delinsAT
c.1816-21_1816-20delinsAT (n.1816-21_1816-20delinsAT)
c.3937-21_3937-20delinsAT (n.3937-21_3937-20delinsAT)
c.3208-21_3208-20delinsAT (n.3208-21_3208-20delinsAT)
c.2368-21_2368-20delinsAT (n.2368-21_2368-20delinsAT)
16g.1511170_1511171dupCA2580090750IFT140c.4183-21_4183-20dup (n.4183-21_4183-20dup)
c.1765-21_1765-20dup (n.1765-21_1765-20dup)
c.*2621-21_*2621-20dup (n.*2621-21_*2621-20dup)
n.4007-21_4007-20dup
c.1816-21_1816-20dup (n.1816-21_1816-20dup)
c.3937-21_3937-20dup (n.3937-21_3937-20dup)
c.3208-21_3208-20dup (n.3208-21_3208-20dup)
c.2368-21_2368-20dup (n.2368-21_2368-20dup)
ClinVar
16g.1511171T>GCA620343059IFT140c.4183-21A>C (n.4183-21A>C)
c.1765-21A>C (n.1765-21A>C)
c.*2621-21A>C (n.*2621-21A>C)
n.4007-21A>C
c.1816-21A>C (n.1816-21A>C)
c.3937-21A>C (n.3937-21A>C)
c.3208-21A>C (n.3208-21A>C)
c.2368-21A>C (n.2368-21A>C)
dbSNP gnomAD v2 gnomAD v4
16g.1511171T=CA2201718477IFT140c.4183-21A= (n.4183-21A=)
c.1765-21A= (n.1765-21A=)
c.*2621-21A= (n.*2621-21A=)
n.4007-21A=
c.1816-21A= (n.1816-21A=)
c.3937-21A= (n.3937-21A=)
c.3208-21A= (n.3208-21A=)
c.2368-21A= (n.2368-21A=)
16g.1511172delCA620343058IFT140c.4183-21del (n.4183-21del)
c.1765-21del (n.1765-21del)
c.*2621-21del (n.*2621-21del)
n.4007-21del
c.1816-21del (n.1816-21del)
c.3937-21del (n.3937-21del)
c.3208-21del (n.3208-21del)
c.2368-21del (n.2368-21del)
dbSNP gnomAD v2 gnomAD v4
16g.1511172T>ACA7812838IFT140c.4183-22A>T (n.4183-22A>T)
c.1765-22A>T (n.1765-22A>T)
c.*2621-22A>T (n.*2621-22A>T)
n.4007-22A>T
c.1816-22A>T (n.1816-22A>T)
c.3937-22A>T (n.3937-22A>T)
c.3208-22A>T (n.3208-22A>T)
c.2368-22A>T (n.2368-22A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511172T=CA2201718478IFT140c.4183-22A= (n.4183-22A=)
c.1765-22A= (n.1765-22A=)
c.*2621-22A= (n.*2621-22A=)
n.4007-22A=
c.1816-22A= (n.1816-22A=)
c.3937-22A= (n.3937-22A=)
c.3208-22A= (n.3208-22A=)
c.2368-22A= (n.2368-22A=)
16g.1511173A=CA2201718479IFT140c.4183-23T= (n.4183-23T=)
c.1765-23T= (n.1765-23T=)
c.*2621-23T= (n.*2621-23T=)
n.4007-23T=
c.1816-23T= (n.1816-23T=)
c.3937-23T= (n.3937-23T=)
c.3208-23T= (n.3208-23T=)
c.2368-23T= (n.2368-23T=)
16g.1511173A>GCA620343060IFT140c.4183-23T>C (n.4183-23T>C)
c.1765-23T>C (n.1765-23T>C)
c.*2621-23T>C (n.*2621-23T>C)
n.4007-23T>C
c.1816-23T>C (n.1816-23T>C)
c.3937-23T>C (n.3937-23T>C)
c.3208-23T>C (n.3208-23T>C)
c.2368-23T>C (n.2368-23T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511173A>TCA2201718480IFT140c.4183-23T>A (n.4183-23T>A)
c.1765-23T>A (n.1765-23T>A)
c.*2621-23T>A (n.*2621-23T>A)
n.4007-23T>A
c.1816-23T>A (n.1816-23T>A)
c.3937-23T>A (n.3937-23T>A)
c.3208-23T>A (n.3208-23T>A)
c.2368-23T>A (n.2368-23T>A)
dbSNP gnomAD v4
16g.1511174C>ACA2631007210IFT140c.4183-24G>T (n.4183-24G>T)
c.1765-24G>T (n.1765-24G>T)
c.*2621-24G>T (n.*2621-24G>T)
n.4007-24G>T
c.1816-24G>T (n.1816-24G>T)
c.3937-24G>T (n.3937-24G>T)
c.3208-24G>T (n.3208-24G>T)
c.2368-24G>T (n.2368-24G>T)
gnomAD v4
16g.1511174C=CA2201718481IFT140c.4183-24G= (n.4183-24G=)
c.1765-24G= (n.1765-24G=)
c.*2621-24G= (n.*2621-24G=)
n.4007-24G=
c.1816-24G= (n.1816-24G=)
c.3937-24G= (n.3937-24G=)
c.3208-24G= (n.3208-24G=)
c.2368-24G= (n.2368-24G=)
16g.1511174C>GCA973715173IFT140c.4183-24G>C (n.4183-24G>C)
c.1765-24G>C (n.1765-24G>C)
c.*2621-24G>C (n.*2621-24G>C)
n.4007-24G>C
c.1816-24G>C (n.1816-24G>C)
c.3937-24G>C (n.3937-24G>C)
c.3208-24G>C (n.3208-24G>C)
c.2368-24G>C (n.2368-24G>C)
dbSNP gnomAD v3 gnomAD v4
16g.1511176C>ACA2631007218IFT140c.4183-26G>T (n.4183-26G>T)
c.1765-26G>T (n.1765-26G>T)
c.*2621-26G>T (n.*2621-26G>T)
n.4007-26G>T
c.1816-26G>T (n.1816-26G>T)
c.3937-26G>T (n.3937-26G>T)
c.3208-26G>T (n.3208-26G>T)
c.2368-26G>T (n.2368-26G>T)
gnomAD v4
16g.1511176C=CA2201718482IFT140c.4183-26G= (n.4183-26G=)
c.1765-26G= (n.1765-26G=)
c.*2621-26G= (n.*2621-26G=)
n.4007-26G=
c.1816-26G= (n.1816-26G=)
c.3937-26G= (n.3937-26G=)
c.3208-26G= (n.3208-26G=)
c.2368-26G= (n.2368-26G=)
16g.1511176C>GCA7812839IFT140c.4183-26G>C (n.4183-26G>C)
c.1765-26G>C (n.1765-26G>C)
c.*2621-26G>C (n.*2621-26G>C)
n.4007-26G>C
c.1816-26G>C (n.1816-26G>C)
c.3937-26G>C (n.3937-26G>C)
c.3208-26G>C (n.3208-26G>C)
c.2368-26G>C (n.2368-26G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511176C>TCA2631007216IFT140c.4183-26G>A (n.4183-26G>A)
c.1765-26G>A (n.1765-26G>A)
c.*2621-26G>A (n.*2621-26G>A)
n.4007-26G>A
c.1816-26G>A (n.1816-26G>A)
c.3937-26G>A (n.3937-26G>A)
c.3208-26G>A (n.3208-26G>A)
c.2368-26G>A (n.2368-26G>A)
gnomAD v4
16g.1511177A>GCA2631007223IFT140c.4183-27T>C (n.4183-27T>C)
c.1765-27T>C (n.1765-27T>C)
c.*2621-27T>C (n.*2621-27T>C)
n.4007-27T>C
c.1816-27T>C (n.1816-27T>C)
c.3937-27T>C (n.3937-27T>C)
c.3208-27T>C (n.3208-27T>C)
c.2368-27T>C (n.2368-27T>C)
gnomAD v4
16g.1511178G>TCA2631007224IFT140c.4183-28C>A (n.4183-28C>A)
c.1765-28C>A (n.1765-28C>A)
c.*2621-28C>A (n.*2621-28C>A)
n.4007-28C>A
c.1816-28C>A (n.1816-28C>A)
c.3937-28C>A (n.3937-28C>A)
c.3208-28C>A (n.3208-28C>A)
c.2368-28C>A (n.2368-28C>A)
gnomAD v4
16g.1511179C>ACA2631007226IFT140c.4183-29G>T (n.4183-29G>T)
c.1765-29G>T (n.1765-29G>T)
c.*2621-29G>T (n.*2621-29G>T)
n.4007-29G>T
c.1816-29G>T (n.1816-29G>T)
c.3937-29G>T (n.3937-29G>T)
c.3208-29G>T (n.3208-29G>T)
c.2368-29G>T (n.2368-29G>T)
gnomAD v4
16g.1511179C>GCA2805557756IFT140c.4183-29G>C (n.4183-29G>C)
c.1765-29G>C (n.1765-29G>C)
c.*2621-29G>C (n.*2621-29G>C)
n.4007-29G>C
c.1816-29G>C (n.1816-29G>C)
c.3937-29G>C (n.3937-29G>C)
c.3208-29G>C (n.3208-29G>C)
c.2368-29G>C (n.2368-29G>C)
16g.1511182T>CCA7812841IFT140c.4183-32A>G (n.4183-32A>G)
c.1765-32A>G (n.1765-32A>G)
c.*2621-32A>G (n.*2621-32A>G)
n.4007-32A>G
c.1816-32A>G (n.1816-32A>G)
c.3937-32A>G (n.3937-32A>G)
c.3208-32A>G (n.3208-32A>G)
c.2368-32A>G (n.2368-32A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511182T=CA2201718483IFT140c.4183-32A= (n.4183-32A=)
c.1765-32A= (n.1765-32A=)
c.*2621-32A= (n.*2621-32A=)
n.4007-32A=
c.1816-32A= (n.1816-32A=)
c.3937-32A= (n.3937-32A=)
c.3208-32A= (n.3208-32A=)
c.2368-32A= (n.2368-32A=)
16g.1511182_1511183delinsTCCA2201718484IFT140c.4183-33_4183-32delinsGA (n.4183-33_4183-32delinsGA)
c.1765-33_1765-32delinsGA (n.1765-33_1765-32delinsGA)
c.*2621-33_*2621-32delinsGA (n.*2621-33_*2621-32delinsGA)
n.4007-33_4007-32delinsGA
c.1816-33_1816-32delinsGA (n.1816-33_1816-32delinsGA)
c.3937-33_3937-32delinsGA (n.3937-33_3937-32delinsGA)
c.3208-33_3208-32delinsGA (n.3208-33_3208-32delinsGA)
c.2368-33_2368-32delinsGA (n.2368-33_2368-32delinsGA)
16g.1511183C>ACA620343061IFT140c.4183-33G>T (n.4183-33G>T)
c.1765-33G>T (n.1765-33G>T)
c.*2621-33G>T (n.*2621-33G>T)
n.4007-33G>T
c.1816-33G>T (n.1816-33G>T)
c.3937-33G>T (n.3937-33G>T)
c.3208-33G>T (n.3208-33G>T)
c.2368-33G>T (n.2368-33G>T)
dbSNP gnomAD v2 gnomAD v4
16g.1511183C=CA2201718485IFT140c.4183-33G= (n.4183-33G=)
c.1765-33G= (n.1765-33G=)
c.*2621-33G= (n.*2621-33G=)
n.4007-33G=
c.1816-33G= (n.1816-33G=)
c.3937-33G= (n.3937-33G=)
c.3208-33G= (n.3208-33G=)
c.2368-33G= (n.2368-33G=)
16g.1511183C>TCA7812842IFT140c.4183-33G>A (n.4183-33G>A)
c.1765-33G>A (n.1765-33G>A)
c.*2621-33G>A (n.*2621-33G>A)
n.4007-33G>A
c.1816-33G>A (n.1816-33G>A)
c.3937-33G>A (n.3937-33G>A)
c.3208-33G>A (n.3208-33G>A)
c.2368-33G>A (n.2368-33G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511184delCA7812840IFT140c.4183-33del (n.4183-33del)
c.1765-33del (n.1765-33del)
c.*2621-33del (n.*2621-33del)
n.4007-33del
c.1816-33del (n.1816-33del)
c.3937-33del (n.3937-33del)
c.3208-33del (n.3208-33del)
c.2368-33del (n.2368-33del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511184C>ACA2569479768IFT140c.4183-34G>T (n.4183-34G>T)
c.1765-34G>T (n.1765-34G>T)
c.*2621-34G>T (n.*2621-34G>T)
n.4007-34G>T
c.1816-34G>T (n.1816-34G>T)
c.3937-34G>T (n.3937-34G>T)
c.3208-34G>T (n.3208-34G>T)
c.2368-34G>T (n.2368-34G>T)
16g.1511184C>TCA2631007235IFT140c.4183-34G>A (n.4183-34G>A)
c.1765-34G>A (n.1765-34G>A)
c.*2621-34G>A (n.*2621-34G>A)
n.4007-34G>A
c.1816-34G>A (n.1816-34G>A)
c.3937-34G>A (n.3937-34G>A)
c.3208-34G>A (n.3208-34G>A)
c.2368-34G>A (n.2368-34G>A)
gnomAD v4
16g.1511185T>CCA7812843IFT140c.4183-35A>G (n.4183-35A>G)
c.1765-35A>G (n.1765-35A>G)
c.*2621-35A>G (n.*2621-35A>G)
n.4007-35A>G
c.1816-35A>G (n.1816-35A>G)
c.3937-35A>G (n.3937-35A>G)
c.3208-35A>G (n.3208-35A>G)
c.2368-35A>G (n.2368-35A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511185T>GCA2575869177IFT140c.4183-35A>C (n.4183-35A>C)
c.1765-35A>C (n.1765-35A>C)
c.*2621-35A>C (n.*2621-35A>C)
n.4007-35A>C
c.1816-35A>C (n.1816-35A>C)
c.3937-35A>C (n.3937-35A>C)
c.3208-35A>C (n.3208-35A>C)
c.2368-35A>C (n.2368-35A>C)
16g.1511185T=CA2201718486IFT140c.4183-35A= (n.4183-35A=)
c.1765-35A= (n.1765-35A=)
c.*2621-35A= (n.*2621-35A=)
n.4007-35A=
c.1816-35A= (n.1816-35A=)
c.3937-35A= (n.3937-35A=)
c.3208-35A= (n.3208-35A=)
c.2368-35A= (n.2368-35A=)
16g.1511186G>CCA7812844IFT140c.4183-36C>G (n.4183-36C>G)
c.1765-36C>G (n.1765-36C>G)
c.*2621-36C>G (n.*2621-36C>G)
n.4007-36C>G
c.1816-36C>G (n.1816-36C>G)
c.3937-36C>G (n.3937-36C>G)
c.3208-36C>G (n.3208-36C>G)
c.2368-36C>G (n.2368-36C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511186G=CA2201718487IFT140c.4183-36C= (n.4183-36C=)
c.1765-36C= (n.1765-36C=)
c.*2621-36C= (n.*2621-36C=)
n.4007-36C=
c.1816-36C= (n.1816-36C=)
c.3937-36C= (n.3937-36C=)
c.3208-36C= (n.3208-36C=)
c.2368-36C= (n.2368-36C=)
16g.1511186G>TCA2631007240IFT140c.4183-36C>A (n.4183-36C>A)
c.1765-36C>A (n.1765-36C>A)
c.*2621-36C>A (n.*2621-36C>A)
n.4007-36C>A
c.1816-36C>A (n.1816-36C>A)
c.3937-36C>A (n.3937-36C>A)
c.3208-36C>A (n.3208-36C>A)
c.2368-36C>A (n.2368-36C>A)
gnomAD v4

Number of alleles fetched