Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1511035C>ACA394222365IFT140c.4298G>T (p.Arg1433Leu)
c.1880G>T (p.Arg627Leu)
c.*2736G>T (n.*2736G>T)
n.4122G>T
c.1931G>T (p.Arg644Leu)
c.4052G>T (p.Arg1351Leu)
c.3323G>T (p.Arg1108Leu)
c.2483G>T (p.Arg828Leu)
16g.1511035C=CA2201718387IFT140c.4298G= (p.Arg1433=)
c.1880G= (p.Arg627=)
c.*2736G= (n.*2736G=)
n.4122G=
c.1931G= (p.Arg644=)
c.4052G= (p.Arg1351=)
c.3323G= (p.Arg1108=)
c.2483G= (p.Arg828=)
16g.1511035C>GCA394222366IFT140c.4298G>C (p.Arg1433Pro)
c.1880G>C (p.Arg627Pro)
c.*2736G>C (n.*2736G>C)
n.4122G>C
c.1931G>C (p.Arg644Pro)
c.4052G>C (p.Arg1351Pro)
c.3323G>C (p.Arg1108Pro)
c.2483G>C (p.Arg828Pro)
16g.1511035C>TCA7812794IFT140c.4298G>A (p.Arg1433His)
c.1880G>A (p.Arg627His)
c.*2736G>A (n.*2736G>A)
n.4122G>A
c.1931G>A (p.Arg644His)
c.4052G>A (p.Arg1351His)
c.3323G>A (p.Arg1108His)
c.2483G>A (p.Arg828His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1511036G>ACA7812795IFT140c.4297C>T (p.Arg1433Cys)
c.1879C>T (p.Arg627Cys)
c.*2735C>T (n.*2735C>T)
n.4121C>T
c.1930C>T (p.Arg644Cys)
c.4051C>T (p.Arg1351Cys)
c.3322C>T (p.Arg1108Cys)
c.2482C>T (p.Arg828Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511036G>CCA394222367IFT140c.4297C>G (p.Arg1433Gly)
c.1879C>G (p.Arg627Gly)
c.*2735C>G (n.*2735C>G)
n.4121C>G
c.1930C>G (p.Arg644Gly)
c.4051C>G (p.Arg1351Gly)
c.3322C>G (p.Arg1108Gly)
c.2482C>G (p.Arg828Gly)
16g.1511036G=CA2201718388IFT140c.4297C= (p.Arg1433=)
c.1879C= (p.Arg627=)
c.*2735C= (n.*2735C=)
n.4121C=
c.1930C= (p.Arg644=)
c.4051C= (p.Arg1351=)
c.3322C= (p.Arg1108=)
c.2482C= (p.Arg828=)
16g.1511036G>TCA394222368IFT140c.4297C>A (p.Arg1433Ser)
c.1879C>A (p.Arg627Ser)
c.*2735C>A (n.*2735C>A)
n.4121C>A
c.1930C>A (p.Arg644Ser)
c.4051C>A (p.Arg1351Ser)
c.3322C>A (p.Arg1108Ser)
c.2482C>A (p.Arg828Ser)
16g.1511037T>ACA493031430IFT140c.4296A>T (p.Pro1432=)
c.1878A>T (p.Pro626=)
c.*2734A>T (n.*2734A>T)
n.4120A>T
c.1929A>T (p.Pro643=)
c.4050A>T (p.Pro1350=)
c.3321A>T (p.Pro1107=)
c.2481A>T (p.Pro827=)
16g.1511037T>CCA493031431IFT140c.4296A>G (p.Pro1432=)
c.1878A>G (p.Pro626=)
c.*2734A>G (n.*2734A>G)
n.4120A>G
c.1929A>G (p.Pro643=)
c.4050A>G (p.Pro1350=)
c.3321A>G (p.Pro1107=)
c.2481A>G (p.Pro827=)
16g.1511037T>GCA493031432IFT140c.4296A>C (p.Pro1432=)
c.1878A>C (p.Pro626=)
c.*2734A>C (n.*2734A>C)
n.4120A>C
c.1929A>C (p.Pro643=)
c.4050A>C (p.Pro1350=)
c.3321A>C (p.Pro1107=)
c.2481A>C (p.Pro827=)
16g.1511038G>ACA394222369IFT140c.4295C>T (p.Pro1432Leu)
c.1877C>T (p.Pro626Leu)
c.*2733C>T (n.*2733C>T)
n.4119C>T
c.1928C>T (p.Pro643Leu)
c.4049C>T (p.Pro1350Leu)
c.3320C>T (p.Pro1107Leu)
c.2480C>T (p.Pro827Leu)
 gnomAD v4
16g.1511038G>CCA394222370IFT140c.4295C>G (p.Pro1432Arg)
c.1877C>G (p.Pro626Arg)
c.*2733C>G (n.*2733C>G)
n.4119C>G
c.1928C>G (p.Pro643Arg)
c.4049C>G (p.Pro1350Arg)
c.3320C>G (p.Pro1107Arg)
c.2480C>G (p.Pro827Arg)
16g.1511038G>TCA394222371IFT140c.4295C>A (p.Pro1432Gln)
c.1877C>A (p.Pro626Gln)
c.*2733C>A (n.*2733C>A)
n.4119C>A
c.1928C>A (p.Pro643Gln)
c.4049C>A (p.Pro1350Gln)
c.3320C>A (p.Pro1107Gln)
c.2480C>A (p.Pro827Gln)
16g.1511039G>ACA394222372IFT140c.4294C>T (p.Pro1432Ser)
c.1876C>T (p.Pro626Ser)
c.*2732C>T (n.*2732C>T)
n.4118C>T
c.1927C>T (p.Pro643Ser)
c.4048C>T (p.Pro1350Ser)
c.3319C>T (p.Pro1107Ser)
c.2479C>T (p.Pro827Ser)
 gnomAD v4
16g.1511039G>CCA394222374IFT140c.4294C>G (p.Pro1432Ala)
c.1876C>G (p.Pro626Ala)
c.*2732C>G (n.*2732C>G)
n.4118C>G
c.1927C>G (p.Pro643Ala)
c.4048C>G (p.Pro1350Ala)
c.3319C>G (p.Pro1107Ala)
c.2479C>G (p.Pro827Ala)
16g.1511039G>TCA394222373IFT140c.4294C>A (p.Pro1432Thr)
c.1876C>A (p.Pro626Thr)
c.*2732C>A (n.*2732C>A)
n.4118C>A
c.1927C>A (p.Pro643Thr)
c.4048C>A (p.Pro1350Thr)
c.3319C>A (p.Pro1107Thr)
c.2479C>A (p.Pro827Thr)
16g.1511040C>ACA493031436IFT140c.4293G>T (p.Leu1431=)
c.1875G>T (p.Leu625=)
c.*2731G>T (n.*2731G>T)
n.4117G>T
c.1926G>T (p.Leu642=)
c.4047G>T (p.Leu1349=)
c.3318G>T (p.Leu1106=)
c.2478G>T (p.Leu826=)
 gnomAD v4
16g.1511040C>GCA493031437IFT140c.4293G>C (p.Leu1431=)
c.1875G>C (p.Leu625=)
c.*2731G>C (n.*2731G>C)
n.4117G>C
c.1926G>C (p.Leu642=)
c.4047G>C (p.Leu1349=)
c.3318G>C (p.Leu1106=)
c.2478G>C (p.Leu826=)
 gnomAD v4
16g.1511040C>TCA493031438IFT140c.4293G>A (p.Leu1431=)
c.1875G>A (p.Leu625=)
c.*2731G>A (n.*2731G>A)
n.4117G>A
c.1926G>A (p.Leu642=)
c.4047G>A (p.Leu1349=)
c.3318G>A (p.Leu1106=)
c.2478G>A (p.Leu826=)
16g.1511041A=CA2201718389IFT140c.4292T= (p.Leu1431=)
c.1874T= (p.Leu625=)
c.*2730T= (n.*2730T=)
n.4116T=
c.1925T= (p.Leu642=)
c.4046T= (p.Leu1349=)
c.3317T= (p.Leu1106=)
c.2477T= (p.Leu826=)
16g.1511041A>CCA394222375IFT140c.4292T>G (p.Leu1431Arg)
c.1874T>G (p.Leu625Arg)
c.*2730T>G (n.*2730T>G)
n.4116T>G
c.1925T>G (p.Leu642Arg)
c.4046T>G (p.Leu1349Arg)
c.3317T>G (p.Leu1106Arg)
c.2477T>G (p.Leu826Arg)
 dbSNP gnomAD v4
16g.1511041A>GCA394222377IFT140c.4292T>C (p.Leu1431Pro)
c.1874T>C (p.Leu625Pro)
c.*2730T>C (n.*2730T>C)
n.4116T>C
c.1925T>C (p.Leu642Pro)
c.4046T>C (p.Leu1349Pro)
c.3317T>C (p.Leu1106Pro)
c.2477T>C (p.Leu826Pro)
16g.1511041A>TCA394222376IFT140c.4292T>A (p.Leu1431Gln)
c.1874T>A (p.Leu625Gln)
c.*2730T>A (n.*2730T>A)
n.4116T>A
c.1925T>A (p.Leu642Gln)
c.4046T>A (p.Leu1349Gln)
c.3317T>A (p.Leu1106Gln)
c.2477T>A (p.Leu826Gln)
16g.1511042G>ACA493031442IFT140c.4291C>T (p.Leu1431=)
c.1873C>T (p.Leu625=)
c.*2729C>T (n.*2729C>T)
n.4115C>T
c.1924C>T (p.Leu642=)
c.4045C>T (p.Leu1349=)
c.3316C>T (p.Leu1106=)
c.2476C>T (p.Leu826=)
 dbSNP gnomAD v4
16g.1511042G>CCA394222378IFT140c.4291C>G (p.Leu1431Val)
c.1873C>G (p.Leu625Val)
c.*2729C>G (n.*2729C>G)
n.4115C>G
c.1924C>G (p.Leu642Val)
c.4045C>G (p.Leu1349Val)
c.3316C>G (p.Leu1106Val)
c.2476C>G (p.Leu826Val)
16g.1511042G=CA2201718390IFT140c.4291C= (p.Leu1431=)
c.1873C= (p.Leu625=)
c.*2729C= (n.*2729C=)
n.4115C=
c.1924C= (p.Leu642=)
c.4045C= (p.Leu1349=)
c.3316C= (p.Leu1106=)
c.2476C= (p.Leu826=)
16g.1511042G>TCA394222379IFT140c.4291C>A (p.Leu1431Met)
c.1873C>A (p.Leu625Met)
c.*2729C>A (n.*2729C>A)
n.4115C>A
c.1924C>A (p.Leu642Met)
c.4045C>A (p.Leu1349Met)
c.3316C>A (p.Leu1106Met)
c.2476C>A (p.Leu826Met)
 COSMIC
16g.1511043T>ACA493031448IFT140c.4290A>T (p.Pro1430=)
c.1872A>T (p.Pro624=)
c.*2728A>T (n.*2728A>T)
n.4114A>T
c.1923A>T (p.Pro641=)
c.4044A>T (p.Pro1348=)
c.3315A>T (p.Pro1105=)
c.2475A>T (p.Pro825=)
16g.1511043T>CCA493031447IFT140c.4290A>G (p.Pro1430=)
c.1872A>G (p.Pro624=)
c.*2728A>G (n.*2728A>G)
n.4114A>G
c.1923A>G (p.Pro641=)
c.4044A>G (p.Pro1348=)
c.3315A>G (p.Pro1105=)
c.2475A>G (p.Pro825=)
16g.1511043T>GCA493031446IFT140c.4290A>C (p.Pro1430=)
c.1872A>C (p.Pro624=)
c.*2728A>C (n.*2728A>C)
n.4114A>C
c.1923A>C (p.Pro641=)
c.4044A>C (p.Pro1348=)
c.3315A>C (p.Pro1105=)
c.2475A>C (p.Pro825=)
16g.1511043_1511044insCCA645593040IFT140c.4289_4290insG (p.Leu1431ThrfsTer30)
c.1871_1872insG (p.Leu625ThrfsTer30)
c.*2727_*2728insG (n.*2727_*2728insG)
n.4113_4114insG
c.1922_1923insG (p.Leu642ThrfsTer30)
c.4043_4044insG (p.Leu1349ThrfsTer30)
c.3314_3315insG (p.Leu1106ThrfsTer30)
c.2474_2475insG (p.Leu826ThrfsTer30)
 COSMIC
16g.1511044G>ACA394222380IFT140c.4289C>T (p.Pro1430Leu)
c.1871C>T (p.Pro624Leu)
c.*2727C>T (n.*2727C>T)
n.4113C>T
c.1922C>T (p.Pro641Leu)
c.4043C>T (p.Pro1348Leu)
c.3314C>T (p.Pro1105Leu)
c.2474C>T (p.Pro825Leu)
16g.1511044G>CCA394222381IFT140c.4289C>G (p.Pro1430Arg)
c.1871C>G (p.Pro624Arg)
c.*2727C>G (n.*2727C>G)
n.4113C>G
c.1922C>G (p.Pro641Arg)
c.4043C>G (p.Pro1348Arg)
c.3314C>G (p.Pro1105Arg)
c.2474C>G (p.Pro825Arg)
16g.1511044G>TCA394222382IFT140c.4289C>A (p.Pro1430Gln)
c.1871C>A (p.Pro624Gln)
c.*2727C>A (n.*2727C>A)
n.4113C>A
c.1922C>A (p.Pro641Gln)
c.4043C>A (p.Pro1348Gln)
c.3314C>A (p.Pro1105Gln)
c.2474C>A (p.Pro825Gln)
16g.1511046dupCA493031449IFT140c.4289dup (p.Leu1431ThrfsTer30)
c.1871dup (p.Leu625ThrfsTer30)
c.*2727dup (n.*2727dup)
n.4113dup
c.1922dup (p.Leu642ThrfsTer30)
c.4043dup (p.Leu1349ThrfsTer30)
c.3314dup (p.Leu1106ThrfsTer30)
c.2474dup (p.Leu826ThrfsTer30)
16g.1511045G>ACA394222383IFT140c.4288C>T (p.Pro1430Ser)
c.1870C>T (p.Pro624Ser)
c.*2726C>T (n.*2726C>T)
n.4112C>T
c.1921C>T (p.Pro641Ser)
c.4042C>T (p.Pro1348Ser)
c.3313C>T (p.Pro1105Ser)
c.2473C>T (p.Pro825Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.1511045G>CCA394222384IFT140c.4288C>G (p.Pro1430Ala)
c.1870C>G (p.Pro624Ala)
c.*2726C>G (n.*2726C>G)
n.4112C>G
c.1921C>G (p.Pro641Ala)
c.4042C>G (p.Pro1348Ala)
c.3313C>G (p.Pro1105Ala)
c.2473C>G (p.Pro825Ala)
16g.1511045G=CA2201718391IFT140c.4288C= (p.Pro1430=)
c.1870C= (p.Pro624=)
c.*2726C= (n.*2726C=)
n.4112C=
c.1921C= (p.Pro641=)
c.4042C= (p.Pro1348=)
c.3313C= (p.Pro1105=)
c.2473C= (p.Pro825=)
16g.1511045G>TCA394222385IFT140c.4288C>A (p.Pro1430Thr)
c.1870C>A (p.Pro624Thr)
c.*2726C>A (n.*2726C>A)
n.4112C>A
c.1921C>A (p.Pro641Thr)
c.4042C>A (p.Pro1348Thr)
c.3313C>A (p.Pro1105Thr)
c.2473C>A (p.Pro825Thr)
16g.1511046G>ACA493031454IFT140c.4287C>T (p.Leu1429=)
c.1869C>T (p.Leu623=)
c.*2725C>T (n.*2725C>T)
n.4111C>T
c.1920C>T (p.Leu640=)
c.4041C>T (p.Leu1347=)
c.3312C>T (p.Leu1104=)
c.2472C>T (p.Leu824=)
16g.1511046G>CCA493031455IFT140c.4287C>G (p.Leu1429=)
c.1869C>G (p.Leu623=)
c.*2725C>G (n.*2725C>G)
n.4111C>G
c.1920C>G (p.Leu640=)
c.4041C>G (p.Leu1347=)
c.3312C>G (p.Leu1104=)
c.2472C>G (p.Leu824=)
16g.1511046G>TCA493031456IFT140c.4287C>A (p.Leu1429=)
c.1869C>A (p.Leu623=)
c.*2725C>A (n.*2725C>A)
n.4111C>A
c.1920C>A (p.Leu640=)
c.4041C>A (p.Leu1347=)
c.3312C>A (p.Leu1104=)
c.2472C>A (p.Leu824=)
16g.1511047A=CA2201718392IFT140c.4286T= (p.Leu1429=)
c.1868T= (p.Leu623=)
c.*2724T= (n.*2724T=)
n.4110T=
c.1919T= (p.Leu640=)
c.4040T= (p.Leu1347=)
c.3311T= (p.Leu1104=)
c.2471T= (p.Leu824=)
16g.1511047A>CCA394222386IFT140c.4286T>G (p.Leu1429Arg)
c.1868T>G (p.Leu623Arg)
c.*2724T>G (n.*2724T>G)
n.4110T>G
c.1919T>G (p.Leu640Arg)
c.4040T>G (p.Leu1347Arg)
c.3311T>G (p.Leu1104Arg)
c.2471T>G (p.Leu824Arg)
16g.1511047A>GCA7812796IFT140c.4286T>C (p.Leu1429Pro)
c.1868T>C (p.Leu623Pro)
c.*2724T>C (n.*2724T>C)
n.4110T>C
c.1919T>C (p.Leu640Pro)
c.4040T>C (p.Leu1347Pro)
c.3311T>C (p.Leu1104Pro)
c.2471T>C (p.Leu824Pro)
 dbSNP ExAC gnomAD v4
16g.1511047A>TCA394222387IFT140c.4286T>A (p.Leu1429His)
c.1868T>A (p.Leu623His)
c.*2724T>A (n.*2724T>A)
n.4110T>A
c.1919T>A (p.Leu640His)
c.4040T>A (p.Leu1347His)
c.3311T>A (p.Leu1104His)
c.2471T>A (p.Leu824His)
16g.1511048G>ACA394222390IFT140c.4285C>T (p.Leu1429Phe)
c.1867C>T (p.Leu623Phe)
c.*2723C>T (n.*2723C>T)
n.4109C>T
c.1918C>T (p.Leu640Phe)
c.4039C>T (p.Leu1347Phe)
c.3310C>T (p.Leu1104Phe)
c.2470C>T (p.Leu824Phe)
16g.1511048G>CCA394222389IFT140c.4285C>G (p.Leu1429Val)
c.1867C>G (p.Leu623Val)
c.*2723C>G (n.*2723C>G)
n.4109C>G
c.1918C>G (p.Leu640Val)
c.4039C>G (p.Leu1347Val)
c.3310C>G (p.Leu1104Val)
c.2470C>G (p.Leu824Val)
16g.1511048G>TCA394222388IFT140c.4285C>A (p.Leu1429Ile)
c.1867C>A (p.Leu623Ile)
c.*2723C>A (n.*2723C>A)
n.4109C>A
c.1918C>A (p.Leu640Ile)
c.4039C>A (p.Leu1347Ile)
c.3310C>A (p.Leu1104Ile)
c.2470C>A (p.Leu824Ile)
16g.1511049A>CCA493031462IFT140c.4284T>G (p.Gly1428=)
c.1866T>G (p.Gly622=)
c.*2722T>G (n.*2722T>G)
n.4108T>G
c.1917T>G (p.Gly639=)
c.4038T>G (p.Gly1346=)
c.3309T>G (p.Gly1103=)
c.2469T>G (p.Gly823=)
16g.1511049A>GCA493031463IFT140c.4284T>C (p.Gly1428=)
c.1866T>C (p.Gly622=)
c.*2722T>C (n.*2722T>C)
n.4108T>C
c.1917T>C (p.Gly639=)
c.4038T>C (p.Gly1346=)
c.3309T>C (p.Gly1103=)
c.2469T>C (p.Gly823=)
16g.1511049A>TCA493031464IFT140c.4284T>A (p.Gly1428=)
c.1866T>A (p.Gly622=)
c.*2722T>A (n.*2722T>A)
n.4108T>A
c.1917T>A (p.Gly639=)
c.4038T>A (p.Gly1346=)
c.3309T>A (p.Gly1103=)
c.2469T>A (p.Gly823=)
16g.1511050C>ACA394222391IFT140c.4283G>T (p.Gly1428Val)
c.1865G>T (p.Gly622Val)
c.*2721G>T (n.*2721G>T)
n.4107G>T
c.1916G>T (p.Gly639Val)
c.4037G>T (p.Gly1346Val)
c.3308G>T (p.Gly1103Val)
c.2468G>T (p.Gly823Val)
 dbSNP gnomAD v2 gnomAD v4
16g.1511050C=CA2201718393IFT140c.4283G= (p.Gly1428=)
c.1865G= (p.Gly622=)
c.*2721G= (n.*2721G=)
n.4107G=
c.1916G= (p.Gly639=)
c.4037G= (p.Gly1346=)
c.3308G= (p.Gly1103=)
c.2468G= (p.Gly823=)
16g.1511050C>GCA394222392IFT140c.4283G>C (p.Gly1428Ala)
c.1865G>C (p.Gly622Ala)
c.*2721G>C (n.*2721G>C)
n.4107G>C
c.1916G>C (p.Gly639Ala)
c.4037G>C (p.Gly1346Ala)
c.3308G>C (p.Gly1103Ala)
c.2468G>C (p.Gly823Ala)
 gnomAD v4
16g.1511050C>TCA394222393IFT140c.4283G>A (p.Gly1428Asp)
c.1865G>A (p.Gly622Asp)
c.*2721G>A (n.*2721G>A)
n.4107G>A
c.1916G>A (p.Gly639Asp)
c.4037G>A (p.Gly1346Asp)
c.3308G>A (p.Gly1103Asp)
c.2468G>A (p.Gly823Asp)
16g.1511052delCA2575869159IFT140c.4283del (p.Gly1428ValfsTer?)
c.1865del (p.Gly622ValfsTer?)
c.*2721del (n.*2721del)
n.4107del
c.1916del (p.Gly639ValfsTer?)
c.4037del (p.Gly1346ValfsTer?)
c.3308del (p.Gly1103ValfsTer?)
c.2468del (p.Gly823ValfsTer?)
16g.1511051C>ACA394222394IFT140c.4282G>T (p.Gly1428Cys)
c.1864G>T (p.Gly622Cys)
c.*2720G>T (n.*2720G>T)
n.4106G>T
c.1915G>T (p.Gly639Cys)
c.4036G>T (p.Gly1346Cys)
c.3307G>T (p.Gly1103Cys)
c.2467G>T (p.Gly823Cys)
16g.1511051C>GCA394222395IFT140c.4282G>C (p.Gly1428Arg)
c.1864G>C (p.Gly622Arg)
c.*2720G>C (n.*2720G>C)
n.4106G>C
c.1915G>C (p.Gly639Arg)
c.4036G>C (p.Gly1346Arg)
c.3307G>C (p.Gly1103Arg)
c.2467G>C (p.Gly823Arg)
16g.1511051C>TCA394222396IFT140c.4282G>A (p.Gly1428Ser)
c.1864G>A (p.Gly622Ser)
c.*2720G>A (n.*2720G>A)
n.4106G>A
c.1915G>A (p.Gly639Ser)
c.4036G>A (p.Gly1346Ser)
c.3307G>A (p.Gly1103Ser)
c.2467G>A (p.Gly823Ser)
16g.1511052C>ACA7812797IFT140c.4281G>T (p.Leu1427=)
c.1863G>T (p.Leu621=)
c.*2719G>T (n.*2719G>T)
n.4105G>T
c.1914G>T (p.Leu638=)
c.4035G>T (p.Leu1345=)
c.3306G>T (p.Leu1102=)
c.2466G>T (p.Leu822=)
 dbSNP ExAC gnomAD v2
16g.1511052C=CA2201718394IFT140c.4281G= (p.Leu1427=)
c.1863G= (p.Leu621=)
c.*2719G= (n.*2719G=)
n.4105G=
c.1914G= (p.Leu638=)
c.4035G= (p.Leu1345=)
c.3306G= (p.Leu1102=)
c.2466G= (p.Leu822=)
16g.1511052C>GCA493031469IFT140c.4281G>C (p.Leu1427=)
c.1863G>C (p.Leu621=)
c.*2719G>C (n.*2719G>C)
n.4105G>C
c.1914G>C (p.Leu638=)
c.4035G>C (p.Leu1345=)
c.3306G>C (p.Leu1102=)
c.2466G>C (p.Leu822=)
16g.1511052C>TCA493031470IFT140c.4281G>A (p.Leu1427=)
c.1863G>A (p.Leu621=)
c.*2719G>A (n.*2719G>A)
n.4105G>A
c.1914G>A (p.Leu638=)
c.4035G>A (p.Leu1345=)
c.3306G>A (p.Leu1102=)
c.2466G>A (p.Leu822=)
 dbSNP gnomAD v2 gnomAD v4
16g.1511053A=CA2201718395IFT140c.4280T= (p.Leu1427=)
c.1862T= (p.Leu621=)
c.*2718T= (n.*2718T=)
n.4104T=
c.1913T= (p.Leu638=)
c.4034T= (p.Leu1345=)
c.3305T= (p.Leu1102=)
c.2465T= (p.Leu822=)
16g.1511053A>CCA394222397IFT140c.4280T>G (p.Leu1427Arg)
c.1862T>G (p.Leu621Arg)
c.*2718T>G (n.*2718T>G)
n.4104T>G
c.1913T>G (p.Leu638Arg)
c.4034T>G (p.Leu1345Arg)
c.3305T>G (p.Leu1102Arg)
c.2465T>G (p.Leu822Arg)
16g.1511053A>GCA276668217IFT140c.4280T>C (p.Leu1427Pro)
c.1862T>C (p.Leu621Pro)
c.*2718T>C (n.*2718T>C)
n.4104T>C
c.1913T>C (p.Leu638Pro)
c.4034T>C (p.Leu1345Pro)
c.3305T>C (p.Leu1102Pro)
c.2465T>C (p.Leu822Pro)
 dbSNP gnomAD v2
16g.1511053A>TCA394222398IFT140c.4280T>A (p.Leu1427Gln)
c.1862T>A (p.Leu621Gln)
c.*2718T>A (n.*2718T>A)
n.4104T>A
c.1913T>A (p.Leu638Gln)
c.4034T>A (p.Leu1345Gln)
c.3305T>A (p.Leu1102Gln)
c.2465T>A (p.Leu822Gln)
16g.1511054G>ACA493031471IFT140c.4279C>T (p.Leu1427=)
c.1861C>T (p.Leu621=)
c.*2717C>T (n.*2717C>T)
n.4103C>T
c.1912C>T (p.Leu638=)
c.4033C>T (p.Leu1345=)
c.3304C>T (p.Leu1102=)
c.2464C>T (p.Leu822=)
 dbSNP gnomAD v3 gnomAD v4
16g.1511054G>CCA394222399IFT140c.4279C>G (p.Leu1427Val)
c.1861C>G (p.Leu621Val)
c.*2717C>G (n.*2717C>G)
n.4103C>G
c.1912C>G (p.Leu638Val)
c.4033C>G (p.Leu1345Val)
c.3304C>G (p.Leu1102Val)
c.2464C>G (p.Leu822Val)
16g.1511054G=CA2201718396IFT140c.4279C= (p.Leu1427=)
c.1861C= (p.Leu621=)
c.*2717C= (n.*2717C=)
n.4103C=
c.1912C= (p.Leu638=)
c.4033C= (p.Leu1345=)
c.3304C= (p.Leu1102=)
c.2464C= (p.Leu822=)
16g.1511054G>TCA394222400IFT140c.4279C>A (p.Leu1427Met)
c.1861C>A (p.Leu621Met)
c.*2717C>A (n.*2717C>A)
n.4103C>A
c.1912C>A (p.Leu638Met)
c.4033C>A (p.Leu1345Met)
c.3304C>A (p.Leu1102Met)
c.2464C>A (p.Leu822Met)
16g.1511055C>ACA7812800IFT140c.4278G>T (p.Gly1426=)
c.1860G>T (p.Gly620=)
c.*2716G>T (n.*2716G>T)
n.4102G>T
c.1911G>T (p.Gly637=)
c.4032G>T (p.Gly1344=)
c.3303G>T (p.Gly1101=)
c.2463G>T (p.Gly821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511055C=CA2201718397IFT140c.4278G= (p.Gly1426=)
c.1860G= (p.Gly620=)
c.*2716G= (n.*2716G=)
n.4102G=
c.1911G= (p.Gly637=)
c.4032G= (p.Gly1344=)
c.3303G= (p.Gly1101=)
c.2463G= (p.Gly821=)
16g.1511055C>GCA493031475IFT140c.4278G>C (p.Gly1426=)
c.1860G>C (p.Gly620=)
c.*2716G>C (n.*2716G>C)
n.4102G>C
c.1911G>C (p.Gly637=)
c.4032G>C (p.Gly1344=)
c.3303G>C (p.Gly1101=)
c.2463G>C (p.Gly821=)
16g.1511055C>TCA7812799IFT140c.4278G>A (p.Gly1426=)
c.1860G>A (p.Gly620=)
c.*2716G>A (n.*2716G>A)
n.4102G>A
c.1911G>A (p.Gly637=)
c.4032G>A (p.Gly1344=)
c.3303G>A (p.Gly1101=)
c.2463G>A (p.Gly821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511059dupCA7812798IFT140c.4278dup (p.Leu1427AlafsTer?)
c.1860dup (p.Leu621AlafsTer?)
c.*2716dup (n.*2716dup)
n.4102dup
c.1911dup (p.Leu638AlafsTer?)
c.4032dup (p.Leu1345AlafsTer?)
c.3303dup (p.Leu1102AlafsTer?)
c.2463dup (p.Leu822AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511059delCA620700865IFT140c.4278del (p.Leu1427TrpfsTer?)
c.1860del (p.Leu621TrpfsTer?)
c.*2716del (n.*2716del)
n.4102del
c.1911del (p.Leu638TrpfsTer?)
c.4032del (p.Leu1345TrpfsTer?)
c.3303del (p.Leu1102TrpfsTer?)
c.2463del (p.Leu822TrpfsTer?)
 gnomAD v2 gnomAD v4
16g.1511056C>ACA276668225IFT140c.4277G>T (p.Gly1426Val)
c.1859G>T (p.Gly620Val)
c.*2715G>T (n.*2715G>T)
n.4101G>T
c.1910G>T (p.Gly637Val)
c.4031G>T (p.Gly1344Val)
c.3302G>T (p.Gly1101Val)
c.2462G>T (p.Gly821Val)
 ClinVar dbSNP gnomAD v4
16g.1511056C=CA2201718398IFT140c.4277G= (p.Gly1426=)
c.1859G= (p.Gly620=)
c.*2715G= (n.*2715G=)
n.4101G=
c.1910G= (p.Gly637=)
c.4031G= (p.Gly1344=)
c.3302G= (p.Gly1101=)
c.2462G= (p.Gly821=)
16g.1511056C>GCA394222401IFT140c.4277G>C (p.Gly1426Ala)
c.1859G>C (p.Gly620Ala)
c.*2715G>C (n.*2715G>C)
n.4101G>C
c.1910G>C (p.Gly637Ala)
c.4031G>C (p.Gly1344Ala)
c.3302G>C (p.Gly1101Ala)
c.2462G>C (p.Gly821Ala)
 gnomAD v4
16g.1511056C>TCA10647032IFT140c.4277G>A (p.Gly1426Glu)
c.1859G>A (p.Gly620Glu)
c.*2715G>A (n.*2715G>A)
n.4101G>A
c.1910G>A (p.Gly637Glu)
c.4031G>A (p.Gly1344Glu)
c.3302G>A (p.Gly1101Glu)
c.2462G>A (p.Gly821Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1511057C>ACA276668232IFT140c.4276G>T (p.Gly1426Trp)
c.1858G>T (p.Gly620Trp)
c.*2714G>T (n.*2714G>T)
n.4100G>T
c.1909G>T (p.Gly637Trp)
c.4030G>T (p.Gly1344Trp)
c.3301G>T (p.Gly1101Trp)
c.2461G>T (p.Gly821Trp)
 dbSNP
16g.1511057C=CA2201718399IFT140c.4276G= (p.Gly1426=)
c.1858G= (p.Gly620=)
c.*2714G= (n.*2714G=)
n.4100G=
c.1909G= (p.Gly637=)
c.4030G= (p.Gly1344=)
c.3301G= (p.Gly1101=)
c.2461G= (p.Gly821=)
16g.1511057C>GCA394222402IFT140c.4276G>C (p.Gly1426Arg)
c.1858G>C (p.Gly620Arg)
c.*2714G>C (n.*2714G>C)
n.4100G>C
c.1909G>C (p.Gly637Arg)
c.4030G>C (p.Gly1344Arg)
c.3301G>C (p.Gly1101Arg)
c.2461G>C (p.Gly821Arg)
16g.1511057C>TCA394222403IFT140c.4276G>A (p.Gly1426Arg)
c.1858G>A (p.Gly620Arg)
c.*2714G>A (n.*2714G>A)
n.4100G>A
c.1909G>A (p.Gly637Arg)
c.4030G>A (p.Gly1344Arg)
c.3301G>A (p.Gly1101Arg)
c.2461G>A (p.Gly821Arg)
16g.1511058C>ACA493031481IFT140c.4275G>T (p.Arg1425=)
c.1857G>T (p.Arg619=)
c.*2713G>T (n.*2713G>T)
n.4099G>T
c.1908G>T (p.Arg636=)
c.4029G>T (p.Arg1343=)
c.3300G>T (p.Arg1100=)
c.2460G>T (p.Arg820=)
16g.1511058C=CA2201718400IFT140c.4275G= (p.Arg1425=)
c.1857G= (p.Arg619=)
c.*2713G= (n.*2713G=)
n.4099G=
c.1908G= (p.Arg636=)
c.4029G= (p.Arg1343=)
c.3300G= (p.Arg1100=)
c.2460G= (p.Arg820=)
16g.1511058C>GCA493031480IFT140c.4275G>C (p.Arg1425=)
c.1857G>C (p.Arg619=)
c.*2713G>C (n.*2713G>C)
n.4099G>C
c.1908G>C (p.Arg636=)
c.4029G>C (p.Arg1343=)
c.3300G>C (p.Arg1100=)
c.2460G>C (p.Arg820=)
16g.1511058C>TCA493031479IFT140c.4275G>A (p.Arg1425=)
c.1857G>A (p.Arg619=)
c.*2713G>A (n.*2713G>A)
n.4099G>A
c.1908G>A (p.Arg636=)
c.4029G>A (p.Arg1343=)
c.3300G>A (p.Arg1100=)
c.2460G>A (p.Arg820=)
 dbSNP gnomAD v4
16g.1511058_1511059delinsTTCA645593041IFT140c.4274_4275delinsAA (p.Arg1425Gln)
c.1856_1857delinsAA (p.Arg619Gln)
c.*2712_*2713delinsAA (n.*2712_*2713delinsAA)
n.4098_4099delinsAA
c.1907_1908delinsAA (p.Arg636Gln)
c.4028_4029delinsAA (p.Arg1343Gln)
c.3299_3300delinsAA (p.Arg1100Gln)
c.2459_2460delinsAA (p.Arg820Gln)
 COSMIC
16g.1511059C>ACA394222404IFT140c.4274G>T (p.Arg1425Leu)
c.1856G>T (p.Arg619Leu)
c.*2712G>T (n.*2712G>T)
n.4098G>T
c.1907G>T (p.Arg636Leu)
c.4028G>T (p.Arg1343Leu)
c.3299G>T (p.Arg1100Leu)
c.2459G>T (p.Arg820Leu)
16g.1511059C=CA2201718401IFT140c.4274G= (p.Arg1425=)
c.1856G= (p.Arg619=)
c.*2712G= (n.*2712G=)
n.4098G=
c.1907G= (p.Arg636=)
c.4028G= (p.Arg1343=)
c.3299G= (p.Arg1100=)
c.2459G= (p.Arg820=)
16g.1511059C>GCA394222405IFT140c.4274G>C (p.Arg1425Pro)
c.1856G>C (p.Arg619Pro)
c.*2712G>C (n.*2712G>C)
n.4098G>C
c.1907G>C (p.Arg636Pro)
c.4028G>C (p.Arg1343Pro)
c.3299G>C (p.Arg1100Pro)
c.2459G>C (p.Arg820Pro)
 gnomAD v4
16g.1511059C>TCA7812801IFT140c.4274G>A (p.Arg1425Gln)
c.1856G>A (p.Arg619Gln)
c.*2712G>A (n.*2712G>A)
n.4098G>A
c.1907G>A (p.Arg636Gln)
c.4028G>A (p.Arg1343Gln)
c.3299G>A (p.Arg1100Gln)
c.2459G>A (p.Arg820Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511060G>ACA7812803IFT140c.4273C>T (p.Arg1425Trp)
c.1855C>T (p.Arg619Trp)
c.*2711C>T (n.*2711C>T)
n.4097C>T
c.1906C>T (p.Arg636Trp)
c.4027C>T (p.Arg1343Trp)
c.3298C>T (p.Arg1100Trp)
c.2458C>T (p.Arg820Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511060G>CCA394222406IFT140c.4273C>G (p.Arg1425Gly)
c.1855C>G (p.Arg619Gly)
c.*2711C>G (n.*2711C>G)
n.4097C>G
c.1906C>G (p.Arg636Gly)
c.4027C>G (p.Arg1343Gly)
c.3298C>G (p.Arg1100Gly)
c.2458C>G (p.Arg820Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.1511060G=CA2201718402IFT140c.4273C= (p.Arg1425=)
c.1855C= (p.Arg619=)
c.*2711C= (n.*2711C=)
n.4097C=
c.1906C= (p.Arg636=)
c.4027C= (p.Arg1343=)
c.3298C= (p.Arg1100=)
c.2458C= (p.Arg820=)
16g.1511060G>TCA7812802IFT140c.4273C>A (p.Arg1425=)
c.1855C>A (p.Arg619=)
c.*2711C>A (n.*2711C>A)
n.4097C>A
c.1906C>A (p.Arg636=)
c.4027C>A (p.Arg1343=)
c.3298C>A (p.Arg1100=)
c.2458C>A (p.Arg820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511061G>ACA7812805IFT140c.4272C>T (p.His1424=)
c.1854C>T (p.His618=)
c.*2710C>T (n.*2710C>T)
n.4096C>T
c.1905C>T (p.His635=)
c.4026C>T (p.His1342=)
c.3297C>T (p.His1099=)
c.2457C>T (p.His819=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511061G>CCA394222407IFT140c.4272C>G (p.His1424Gln)
c.1854C>G (p.His618Gln)
c.*2710C>G (n.*2710C>G)
n.4096C>G
c.1905C>G (p.His635Gln)
c.4026C>G (p.His1342Gln)
c.3297C>G (p.His1099Gln)
c.2457C>G (p.His819Gln)
16g.1511061G=CA2201718403IFT140c.4272C= (p.His1424=)
c.1854C= (p.His618=)
c.*2710C= (n.*2710C=)
n.4096C=
c.1905C= (p.His635=)
c.4026C= (p.His1342=)
c.3297C= (p.His1099=)
c.2457C= (p.His819=)
16g.1511061G>TCA7812804IFT140c.4272C>A (p.His1424Gln)
c.1854C>A (p.His618Gln)
c.*2710C>A (n.*2710C>A)
n.4096C>A
c.1905C>A (p.His635Gln)
c.4026C>A (p.His1342Gln)
c.3297C>A (p.His1099Gln)
c.2457C>A (p.His819Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511062T>ACA394222408IFT140c.4271A>T (p.His1424Leu)
c.1853A>T (p.His618Leu)
c.*2709A>T (n.*2709A>T)
n.4095A>T
c.1904A>T (p.His635Leu)
c.4025A>T (p.His1342Leu)
c.3296A>T (p.His1099Leu)
c.2456A>T (p.His819Leu)
 gnomAD v4
16g.1511062T>CCA394222409IFT140c.4271A>G (p.His1424Arg)
c.1853A>G (p.His618Arg)
c.*2709A>G (n.*2709A>G)
n.4095A>G
c.1904A>G (p.His635Arg)
c.4025A>G (p.His1342Arg)
c.3296A>G (p.His1099Arg)
c.2456A>G (p.His819Arg)
16g.1511062T>GCA394222410IFT140c.4271A>C (p.His1424Pro)
c.1853A>C (p.His618Pro)
c.*2709A>C (n.*2709A>C)
n.4095A>C
c.1904A>C (p.His635Pro)
c.4025A>C (p.His1342Pro)
c.3296A>C (p.His1099Pro)
c.2456A>C (p.His819Pro)
 gnomAD v4
16g.1511063G>ACA394222411IFT140c.4270C>T (p.His1424Tyr)
c.1852C>T (p.His618Tyr)
c.*2708C>T (n.*2708C>T)
n.4094C>T
c.1903C>T (p.His635Tyr)
c.4024C>T (p.His1342Tyr)
c.3295C>T (p.His1099Tyr)
c.2455C>T (p.His819Tyr)
 ClinVar gnomAD v4
16g.1511063G>CCA394222412IFT140c.4270C>G (p.His1424Asp)
c.1852C>G (p.His618Asp)
c.*2708C>G (n.*2708C>G)
n.4094C>G
c.1903C>G (p.His635Asp)
c.4024C>G (p.His1342Asp)
c.3295C>G (p.His1099Asp)
c.2455C>G (p.His819Asp)
16g.1511063G>TCA394222413IFT140c.4270C>A (p.His1424Asn)
c.1852C>A (p.His618Asn)
c.*2708C>A (n.*2708C>A)
n.4094C>A
c.1903C>A (p.His635Asn)
c.4024C>A (p.His1342Asn)
c.3295C>A (p.His1099Asn)
c.2455C>A (p.His819Asn)
16g.1511064C>ACA493031491IFT140c.4269G>T (p.Val1423=)
c.1851G>T (p.Val617=)
c.*2707G>T (n.*2707G>T)
n.4093G>T
c.1902G>T (p.Val634=)
c.4023G>T (p.Val1341=)
c.3294G>T (p.Val1098=)
c.2454G>T (p.Val818=)
16g.1511064C=CA2201718404IFT140c.4269G= (p.Val1423=)
c.1851G= (p.Val617=)
c.*2707G= (n.*2707G=)
n.4093G=
c.1902G= (p.Val634=)
c.4023G= (p.Val1341=)
c.3294G= (p.Val1098=)
c.2454G= (p.Val818=)
16g.1511064C>GCA493031493IFT140c.4269G>C (p.Val1423=)
c.1851G>C (p.Val617=)
c.*2707G>C (n.*2707G>C)
n.4093G>C
c.1902G>C (p.Val634=)
c.4023G>C (p.Val1341=)
c.3294G>C (p.Val1098=)
c.2454G>C (p.Val818=)
16g.1511064C>TCA493031492IFT140c.4269G>A (p.Val1423=)
c.1851G>A (p.Val617=)
c.*2707G>A (n.*2707G>A)
n.4093G>A
c.1902G>A (p.Val634=)
c.4023G>A (p.Val1341=)
c.3294G>A (p.Val1098=)
c.2454G>A (p.Val818=)
 dbSNP
16g.1511065A=CA2201718405IFT140c.4268T= (p.Val1423=)
c.1850T= (p.Val617=)
c.*2706T= (n.*2706T=)
n.4092T=
c.1901T= (p.Val634=)
c.4022T= (p.Val1341=)
c.3293T= (p.Val1098=)
c.2453T= (p.Val818=)
16g.1511065A>CCA394222414IFT140c.4268T>G (p.Val1423Gly)
c.1850T>G (p.Val617Gly)
c.*2706T>G (n.*2706T>G)
n.4092T>G
c.1901T>G (p.Val634Gly)
c.4022T>G (p.Val1341Gly)
c.3293T>G (p.Val1098Gly)
c.2453T>G (p.Val818Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511065A>GCA394222416IFT140c.4268T>C (p.Val1423Ala)
c.1850T>C (p.Val617Ala)
c.*2706T>C (n.*2706T>C)
n.4092T>C
c.1901T>C (p.Val634Ala)
c.4022T>C (p.Val1341Ala)
c.3293T>C (p.Val1098Ala)
c.2453T>C (p.Val818Ala)
16g.1511065A>TCA394222415IFT140c.4268T>A (p.Val1423Glu)
c.1850T>A (p.Val617Glu)
c.*2706T>A (n.*2706T>A)
n.4092T>A
c.1901T>A (p.Val634Glu)
c.4022T>A (p.Val1341Glu)
c.3293T>A (p.Val1098Glu)
c.2453T>A (p.Val818Glu)
16g.1511066C>ACA394222417IFT140c.4267G>T (p.Val1423Leu)
c.1849G>T (p.Val617Leu)
c.*2705G>T (n.*2705G>T)
n.4091G>T
c.1900G>T (p.Val634Leu)
c.4021G>T (p.Val1341Leu)
c.3292G>T (p.Val1098Leu)
c.2452G>T (p.Val818Leu)
16g.1511066C=CA2201718406IFT140c.4267G= (p.Val1423=)
c.1849G= (p.Val617=)
c.*2705G= (n.*2705G=)
n.4091G=
c.1900G= (p.Val634=)
c.4021G= (p.Val1341=)
c.3292G= (p.Val1098=)
c.2452G= (p.Val818=)
16g.1511066C>GCA394222418IFT140c.4267G>C (p.Val1423Leu)
c.1849G>C (p.Val617Leu)
c.*2705G>C (n.*2705G>C)
n.4091G>C
c.1900G>C (p.Val634Leu)
c.4021G>C (p.Val1341Leu)
c.3292G>C (p.Val1098Leu)
c.2452G>C (p.Val818Leu)
16g.1511066C>TCA7812806IFT140c.4267G>A (p.Val1423Met)
c.1849G>A (p.Val617Met)
c.*2705G>A (n.*2705G>A)
n.4091G>A
c.1900G>A (p.Val634Met)
c.4021G>A (p.Val1341Met)
c.3292G>A (p.Val1098Met)
c.2452G>A (p.Val818Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511067G>ACA7812807IFT140c.4266C>T (p.Ala1422=)
c.1848C>T (p.Ala616=)
c.*2704C>T (n.*2704C>T)
n.4090C>T
c.1899C>T (p.Ala633=)
c.4020C>T (p.Ala1340=)
c.3291C>T (p.Ala1097=)
c.2451C>T (p.Ala817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511067G>CCA493031502IFT140c.4266C>G (p.Ala1422=)
c.1848C>G (p.Ala616=)
c.*2704C>G (n.*2704C>G)
n.4090C>G
c.1899C>G (p.Ala633=)
c.4020C>G (p.Ala1340=)
c.3291C>G (p.Ala1097=)
c.2451C>G (p.Ala817=)
16g.1511067G=CA2201718407IFT140c.4266C= (p.Ala1422=)
c.1848C= (p.Ala616=)
c.*2704C= (n.*2704C=)
n.4090C=
c.1899C= (p.Ala633=)
c.4020C= (p.Ala1340=)
c.3291C= (p.Ala1097=)
c.2451C= (p.Ala817=)
16g.1511067G>TCA493031503IFT140c.4266C>A (p.Ala1422=)
c.1848C>A (p.Ala616=)
c.*2704C>A (n.*2704C>A)
n.4090C>A
c.1899C>A (p.Ala633=)
c.4020C>A (p.Ala1340=)
c.3291C>A (p.Ala1097=)
c.2451C>A (p.Ala817=)
16g.1511068G>ACA394222419IFT140c.4265C>T (p.Ala1422Val)
c.1847C>T (p.Ala616Val)
c.*2703C>T (n.*2703C>T)
n.4089C>T
c.1898C>T (p.Ala633Val)
c.4019C>T (p.Ala1340Val)
c.3290C>T (p.Ala1097Val)
c.2450C>T (p.Ala817Val)
16g.1511068G>CCA394222421IFT140c.4265C>G (p.Ala1422Gly)
c.1847C>G (p.Ala616Gly)
c.*2703C>G (n.*2703C>G)
n.4089C>G
c.1898C>G (p.Ala633Gly)
c.4019C>G (p.Ala1340Gly)
c.3290C>G (p.Ala1097Gly)
c.2450C>G (p.Ala817Gly)
 dbSNP gnomAD v4
16g.1511068G=CA2201718408IFT140c.4265C= (p.Ala1422=)
c.1847C= (p.Ala616=)
c.*2703C= (n.*2703C=)
n.4089C=
c.1898C= (p.Ala633=)
c.4019C= (p.Ala1340=)
c.3290C= (p.Ala1097=)
c.2450C= (p.Ala817=)
16g.1511068G>TCA394222420IFT140c.4265C>A (p.Ala1422Asp)
c.1847C>A (p.Ala616Asp)
c.*2703C>A (n.*2703C>A)
n.4089C>A
c.1898C>A (p.Ala633Asp)
c.4019C>A (p.Ala1340Asp)
c.3290C>A (p.Ala1097Asp)
c.2450C>A (p.Ala817Asp)
16g.1511069C>ACA394222422IFT140c.4264G>T (p.Ala1422Ser)
c.1846G>T (p.Ala616Ser)
c.*2702G>T (n.*2702G>T)
n.4088G>T
c.1897G>T (p.Ala633Ser)
c.4018G>T (p.Ala1340Ser)
c.3289G>T (p.Ala1097Ser)
c.2449G>T (p.Ala817Ser)
 gnomAD v4
16g.1511069C=CA2201718409IFT140c.4264G= (p.Ala1422=)
c.1846G= (p.Ala616=)
c.*2702G= (n.*2702G=)
n.4088G=
c.1897G= (p.Ala633=)
c.4018G= (p.Ala1340=)
c.3289G= (p.Ala1097=)
c.2449G= (p.Ala817=)
16g.1511069C>GCA394222423IFT140c.4264G>C (p.Ala1422Pro)
c.1846G>C (p.Ala616Pro)
c.*2702G>C (n.*2702G>C)
n.4088G>C
c.1897G>C (p.Ala633Pro)
c.4018G>C (p.Ala1340Pro)
c.3289G>C (p.Ala1097Pro)
c.2449G>C (p.Ala817Pro)
16g.1511069C>TCA7812808IFT140c.4264G>A (p.Ala1422Thr)
c.1846G>A (p.Ala616Thr)
c.*2702G>A (n.*2702G>A)
n.4088G>A
c.1897G>A (p.Ala633Thr)
c.4018G>A (p.Ala1340Thr)
c.3289G>A (p.Ala1097Thr)
c.2449G>A (p.Ala817Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511070G>ACA7812809IFT140c.4263C>T (p.Asp1421=)
c.1845C>T (p.Asp615=)
c.*2701C>T (n.*2701C>T)
n.4087C>T
c.1896C>T (p.Asp632=)
c.4017C>T (p.Asp1339=)
c.3288C>T (p.Asp1096=)
c.2448C>T (p.Asp816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511070G>CCA394222425IFT140c.4263C>G (p.Asp1421Glu)
c.1845C>G (p.Asp615Glu)
c.*2701C>G (n.*2701C>G)
n.4087C>G
c.1896C>G (p.Asp632Glu)
c.4017C>G (p.Asp1339Glu)
c.3288C>G (p.Asp1096Glu)
c.2448C>G (p.Asp816Glu)
16g.1511070G=CA2201718410IFT140c.4263C= (p.Asp1421=)
c.1845C= (p.Asp615=)
c.*2701C= (n.*2701C=)
n.4087C=
c.1896C= (p.Asp632=)
c.4017C= (p.Asp1339=)
c.3288C= (p.Asp1096=)
c.2448C= (p.Asp816=)
16g.1511070G>TCA394222424IFT140c.4263C>A (p.Asp1421Glu)
c.1845C>A (p.Asp615Glu)
c.*2701C>A (n.*2701C>A)
n.4087C>A
c.1896C>A (p.Asp632Glu)
c.4017C>A (p.Asp1339Glu)
c.3288C>A (p.Asp1096Glu)
c.2448C>A (p.Asp816Glu)
16g.1511071T>ACA394222426IFT140c.4262A>T (p.Asp1421Val)
c.1844A>T (p.Asp615Val)
c.*2700A>T (n.*2700A>T)
n.4086A>T
c.1895A>T (p.Asp632Val)
c.4016A>T (p.Asp1339Val)
c.3287A>T (p.Asp1096Val)
c.2447A>T (p.Asp816Val)
16g.1511071T>CCA394222428IFT140c.4262A>G (p.Asp1421Gly)
c.1844A>G (p.Asp615Gly)
c.*2700A>G (n.*2700A>G)
n.4086A>G
c.1895A>G (p.Asp632Gly)
c.4016A>G (p.Asp1339Gly)
c.3287A>G (p.Asp1096Gly)
c.2447A>G (p.Asp816Gly)
 dbSNP
16g.1511071T>GCA394222427IFT140c.4262A>C (p.Asp1421Ala)
c.1844A>C (p.Asp615Ala)
c.*2700A>C (n.*2700A>C)
n.4086A>C
c.1895A>C (p.Asp632Ala)
c.4016A>C (p.Asp1339Ala)
c.3287A>C (p.Asp1096Ala)
c.2447A>C (p.Asp816Ala)
16g.1511072C>ACA394222429IFT140c.4261G>T (p.Asp1421Tyr)
c.1843G>T (p.Asp615Tyr)
c.*2699G>T (n.*2699G>T)
n.4085G>T
c.1894G>T (p.Asp632Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3286G>T (p.Asp1096Tyr)
c.2446G>T (p.Asp816Tyr)
16g.1511072C>GCA394222430IFT140c.4261G>C (p.Asp1421His)
c.1843G>C (p.Asp615His)
c.*2699G>C (n.*2699G>C)
n.4085G>C
c.1894G>C (p.Asp632His)
c.4015G>C (p.Asp1339His)
c.3286G>C (p.Asp1096His)
c.2446G>C (p.Asp816His)
16g.1511072C>TCA394222431IFT140c.4261G>A (p.Asp1421Asn)
c.1843G>A (p.Asp615Asn)
c.*2699G>A (n.*2699G>A)
n.4085G>A
c.1894G>A (p.Asp632Asn)
c.4015G>A (p.Asp1339Asn)
c.3286G>A (p.Asp1096Asn)
c.2446G>A (p.Asp816Asn)
 gnomAD v4
16g.1511073C>ACA493031512IFT140c.4260G>T (p.Val1420=)
c.1842G>T (p.Val614=)
c.*2698G>T (n.*2698G>T)
n.4084G>T
c.1893G>T (p.Val631=)
c.4014G>T (p.Val1338=)
c.3285G>T (p.Val1095=)
c.2445G>T (p.Val815=)
16g.1511073C=CA2201718411IFT140c.4260G= (p.Val1420=)
c.1842G= (p.Val614=)
c.*2698G= (n.*2698G=)
n.4084G=
c.1893G= (p.Val631=)
c.4014G= (p.Val1338=)
c.3285G= (p.Val1095=)
c.2445G= (p.Val815=)
16g.1511073C>GCA7812810IFT140c.4260G>C (p.Val1420=)
c.1842G>C (p.Val614=)
c.*2698G>C (n.*2698G>C)
n.4084G>C
c.1893G>C (p.Val631=)
c.4014G>C (p.Val1338=)
c.3285G>C (p.Val1095=)
c.2445G>C (p.Val815=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511073C>TCA493031518IFT140c.4260G>A (p.Val1420=)
c.1842G>A (p.Val614=)
c.*2698G>A (n.*2698G>A)
n.4084G>A
c.1893G>A (p.Val631=)
c.4014G>A (p.Val1338=)
c.3285G>A (p.Val1095=)
c.2445G>A (p.Val815=)
 dbSNP gnomAD v2 gnomAD v4
16g.1511074A>CCA394222432IFT140c.4259T>G (p.Val1420Gly)
c.1841T>G (p.Val614Gly)
c.*2697T>G (n.*2697T>G)
n.4083T>G
c.1892T>G (p.Val631Gly)
c.4013T>G (p.Val1338Gly)
c.3284T>G (p.Val1095Gly)
c.2444T>G (p.Val815Gly)
16g.1511074A>GCA394222433IFT140c.4259T>C (p.Val1420Ala)
c.1841T>C (p.Val614Ala)
c.*2697T>C (n.*2697T>C)
n.4083T>C
c.1892T>C (p.Val631Ala)
c.4013T>C (p.Val1338Ala)
c.3284T>C (p.Val1095Ala)
c.2444T>C (p.Val815Ala)
16g.1511074A>TCA394222434IFT140c.4259T>A (p.Val1420Glu)
c.1841T>A (p.Val614Glu)
c.*2697T>A (n.*2697T>A)
n.4083T>A
c.1892T>A (p.Val631Glu)
c.4013T>A (p.Val1338Glu)
c.3284T>A (p.Val1095Glu)
c.2444T>A (p.Val815Glu)
16g.1511075C>ACA394222435IFT140c.4258G>T (p.Val1420Leu)
c.1840G>T (p.Val614Leu)
c.*2696G>T (n.*2696G>T)
n.4082G>T
c.1891G>T (p.Val631Leu)
c.4012G>T (p.Val1338Leu)
c.3283G>T (p.Val1095Leu)
c.2443G>T (p.Val815Leu)
16g.1511075C=CA2201718412IFT140c.4258G= (p.Val1420=)
c.1840G= (p.Val614=)
c.*2696G= (n.*2696G=)
n.4082G=
c.1891G= (p.Val631=)
c.4012G= (p.Val1338=)
c.3283G= (p.Val1095=)
c.2443G= (p.Val815=)
16g.1511075C>GCA394222436IFT140c.4258G>C (p.Val1420Leu)
c.1840G>C (p.Val614Leu)
c.*2696G>C (n.*2696G>C)
n.4082G>C
c.1891G>C (p.Val631Leu)
c.4012G>C (p.Val1338Leu)
c.3283G>C (p.Val1095Leu)
c.2443G>C (p.Val815Leu)
16g.1511075C>TCA7812811IFT140c.4258G>A (p.Val1420Met)
c.1840G>A (p.Val614Met)
c.*2696G>A (n.*2696G>A)
n.4082G>A
c.1891G>A (p.Val631Met)
c.4012G>A (p.Val1338Met)
c.3283G>A (p.Val1095Met)
c.2443G>A (p.Val815Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511076G>ACA7812812IFT140c.4257C>T (p.Ala1419=)
c.1839C>T (p.Ala613=)
c.*2695C>T (n.*2695C>T)
n.4081C>T
c.1890C>T (p.Ala630=)
c.4011C>T (p.Ala1337=)
c.3282C>T (p.Ala1094=)
c.2442C>T (p.Ala814=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511076G>CCA493031520IFT140c.4257C>G (p.Ala1419=)
c.1839C>G (p.Ala613=)
c.*2695C>G (n.*2695C>G)
n.4081C>G
c.1890C>G (p.Ala630=)
c.4011C>G (p.Ala1337=)
c.3282C>G (p.Ala1094=)
c.2442C>G (p.Ala814=)
16g.1511076G=CA2201718413IFT140c.4257C= (p.Ala1419=)
c.1839C= (p.Ala613=)
c.*2695C= (n.*2695C=)
n.4081C=
c.1890C= (p.Ala630=)
c.4011C= (p.Ala1337=)
c.3282C= (p.Ala1094=)
c.2442C= (p.Ala814=)
16g.1511076G>TCA493031522IFT140c.4257C>A (p.Ala1419=)
c.1839C>A (p.Ala613=)
c.*2695C>A (n.*2695C>A)
n.4081C>A
c.1890C>A (p.Ala630=)
c.4011C>A (p.Ala1337=)
c.3282C>A (p.Ala1094=)
c.2442C>A (p.Ala814=)
16g.1511077G>ACA394222439IFT140c.4256C>T (p.Ala1419Val)
c.1838C>T (p.Ala613Val)
c.*2694C>T (n.*2694C>T)
n.4080C>T
c.1889C>T (p.Ala630Val)
c.4010C>T (p.Ala1337Val)
c.3281C>T (p.Ala1094Val)
c.2441C>T (p.Ala814Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511077G>CCA394222437IFT140c.4256C>G (p.Ala1419Gly)
c.1838C>G (p.Ala613Gly)
c.*2694C>G (n.*2694C>G)
n.4080C>G
c.1889C>G (p.Ala630Gly)
c.4010C>G (p.Ala1337Gly)
c.3281C>G (p.Ala1094Gly)
c.2441C>G (p.Ala814Gly)
16g.1511077G=CA2201718414IFT140c.4256C= (p.Ala1419=)
c.1838C= (p.Ala613=)
c.*2694C= (n.*2694C=)
n.4080C=
c.1889C= (p.Ala630=)
c.4010C= (p.Ala1337=)
c.3281C= (p.Ala1094=)
c.2441C= (p.Ala814=)
16g.1511077G>TCA394222438IFT140c.4256C>A (p.Ala1419Asp)
c.1838C>A (p.Ala613Asp)
c.*2694C>A (n.*2694C>A)
n.4080C>A
c.1889C>A (p.Ala630Asp)
c.4010C>A (p.Ala1337Asp)
c.3281C>A (p.Ala1094Asp)
c.2441C>A (p.Ala814Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511078C>ACA394222440IFT140c.4255G>T (p.Ala1419Ser)
c.1837G>T (p.Ala613Ser)
c.*2693G>T (n.*2693G>T)
n.4079G>T
c.1888G>T (p.Ala630Ser)
c.4009G>T (p.Ala1337Ser)
c.3280G>T (p.Ala1094Ser)
c.2440G>T (p.Ala814Ser)
16g.1511078C>GCA394222441IFT140c.4255G>C (p.Ala1419Pro)
c.1837G>C (p.Ala613Pro)
c.*2693G>C (n.*2693G>C)
n.4079G>C
c.1888G>C (p.Ala630Pro)
c.4009G>C (p.Ala1337Pro)
c.3280G>C (p.Ala1094Pro)
c.2440G>C (p.Ala814Pro)
 gnomAD v4
16g.1511078C>TCA394222442IFT140c.4255G>A (p.Ala1419Thr)
c.1837G>A (p.Ala613Thr)
c.*2693G>A (n.*2693G>A)
n.4079G>A
c.1888G>A (p.Ala630Thr)
c.4009G>A (p.Ala1337Thr)
c.3280G>A (p.Ala1094Thr)
c.2440G>A (p.Ala814Thr)
16g.1511079C>ACA394222443IFT140c.4254G>T (p.Gln1418His)
c.1836G>T (p.Gln612His)
c.*2692G>T (n.*2692G>T)
n.4078G>T
c.1887G>T (p.Gln629His)
c.4008G>T (p.Gln1336His)
c.3279G>T (p.Gln1093His)
c.2439G>T (p.Gln813His)
16g.1511079C=CA2201718415IFT140c.4254G= (p.Gln1418=)
c.1836G= (p.Gln612=)
c.*2692G= (n.*2692G=)
n.4078G=
c.1887G= (p.Gln629=)
c.4008G= (p.Gln1336=)
c.3279G= (p.Gln1093=)
c.2439G= (p.Gln813=)
16g.1511079C>GCA394222444IFT140c.4254G>C (p.Gln1418His)
c.1836G>C (p.Gln612His)
c.*2692G>C (n.*2692G>C)
n.4078G>C
c.1887G>C (p.Gln629His)
c.4008G>C (p.Gln1336His)
c.3279G>C (p.Gln1093His)
c.2439G>C (p.Gln813His)
16g.1511079C>TCA493031526IFT140c.4254G>A (p.Gln1418=)
c.1836G>A (p.Gln612=)
c.*2692G>A (n.*2692G>A)
n.4078G>A
c.1887G>A (p.Gln629=)
c.4008G>A (p.Gln1336=)
c.3279G>A (p.Gln1093=)
c.2439G>A (p.Gln813=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511080delCA2731680255IFT140c.4253del (p.Gln1418ArgfsTer?)
c.1835del (p.Gln612ArgfsTer?)
c.*2691del (n.*2691del)
n.4077del
c.1886del (p.Gln629ArgfsTer?)
c.4007del (p.Gln1336ArgfsTer?)
c.3278del (p.Gln1093ArgfsTer?)
c.2438del (p.Gln813ArgfsTer?)
 dbSNP
16g.1511080T>ACA394222445IFT140c.4253A>T (p.Gln1418Leu)
c.1835A>T (p.Gln612Leu)
c.*2691A>T (n.*2691A>T)
n.4077A>T
c.1886A>T (p.Gln629Leu)
c.4007A>T (p.Gln1336Leu)
c.3278A>T (p.Gln1093Leu)
c.2438A>T (p.Gln813Leu)
16g.1511080T>CCA394222446IFT140c.4253A>G (p.Gln1418Arg)
c.1835A>G (p.Gln612Arg)
c.*2691A>G (n.*2691A>G)
n.4077A>G
c.1886A>G (p.Gln629Arg)
c.4007A>G (p.Gln1336Arg)
c.3278A>G (p.Gln1093Arg)
c.2438A>G (p.Gln813Arg)
 gnomAD v4
16g.1511080T>GCA394222447IFT140c.4253A>C (p.Gln1418Pro)
c.1835A>C (p.Gln612Pro)
c.*2691A>C (n.*2691A>C)
n.4077A>C
c.1886A>C (p.Gln629Pro)
c.4007A>C (p.Gln1336Pro)
c.3278A>C (p.Gln1093Pro)
c.2438A>C (p.Gln813Pro)
 gnomAD v4
16g.1511081G>ACA394222448IFT140c.4252C>T (p.Gln1418Ter)
c.1834C>T (p.Gln612Ter)
c.*2690C>T (n.*2690C>T)
n.4076C>T
c.1885C>T (p.Gln629Ter)
c.4006C>T (p.Gln1336Ter)
c.3277C>T (p.Gln1093Ter)
c.2437C>T (p.Gln813Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.1511081G>CCA394222449IFT140c.4252C>G (p.Gln1418Glu)
c.1834C>G (p.Gln612Glu)
c.*2690C>G (n.*2690C>G)
n.4076C>G
c.1885C>G (p.Gln629Glu)
c.4006C>G (p.Gln1336Glu)
c.3277C>G (p.Gln1093Glu)
c.2437C>G (p.Gln813Glu)
16g.1511081G=CA2201718416IFT140c.4252C= (p.Gln1418=)
c.1834C= (p.Gln612=)
c.*2690C= (n.*2690C=)
n.4076C=
c.1885C= (p.Gln629=)
c.4006C= (p.Gln1336=)
c.3277C= (p.Gln1093=)
c.2437C= (p.Gln813=)
16g.1511081G>TCA394222450IFT140c.4252C>A (p.Gln1418Lys)
c.1834C>A (p.Gln612Lys)
c.*2690C>A (n.*2690C>A)
n.4076C>A
c.1885C>A (p.Gln629Lys)
c.4006C>A (p.Gln1336Lys)
c.3277C>A (p.Gln1093Lys)
c.2437C>A (p.Gln813Lys)
16g.1511082C>ACA493031529IFT140c.4251G>T (p.Pro1417=)
c.1833G>T (p.Pro611=)
c.*2689G>T (n.*2689G>T)
n.4075G>T
c.1884G>T (p.Pro628=)
c.4005G>T (p.Pro1335=)
c.3276G>T (p.Pro1092=)
c.2436G>T (p.Pro812=)
16g.1511082C=CA2201718417IFT140c.4251G= (p.Pro1417=)
c.1833G= (p.Pro611=)
c.*2689G= (n.*2689G=)
n.4075G=
c.1884G= (p.Pro628=)
c.4005G= (p.Pro1335=)
c.3276G= (p.Pro1092=)
c.2436G= (p.Pro812=)
16g.1511082C>GCA493031530IFT140c.4251G>C (p.Pro1417=)
c.1833G>C (p.Pro611=)
c.*2689G>C (n.*2689G>C)
n.4075G>C
c.1884G>C (p.Pro628=)
c.4005G>C (p.Pro1335=)
c.3276G>C (p.Pro1092=)
c.2436G>C (p.Pro812=)
16g.1511082C>TCA7812813IFT140c.4251G>A (p.Pro1417=)
c.1833G>A (p.Pro611=)
c.*2689G>A (n.*2689G>A)
n.4075G>A
c.1884G>A (p.Pro628=)
c.4005G>A (p.Pro1335=)
c.3276G>A (p.Pro1092=)
c.2436G>A (p.Pro812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511083G>ACA7812814IFT140c.4250C>T (p.Pro1417Leu)
c.1832C>T (p.Pro611Leu)
c.*2688C>T (n.*2688C>T)
n.4074C>T
c.1883C>T (p.Pro628Leu)
c.4004C>T (p.Pro1335Leu)
c.3275C>T (p.Pro1092Leu)
c.2435C>T (p.Pro812Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511083G>CCA394222451IFT140c.4250C>G (p.Pro1417Arg)
c.1832C>G (p.Pro611Arg)
c.*2688C>G (n.*2688C>G)
n.4074C>G
c.1883C>G (p.Pro628Arg)
c.4004C>G (p.Pro1335Arg)
c.3275C>G (p.Pro1092Arg)
c.2435C>G (p.Pro812Arg)
16g.1511083G=CA2201718418IFT140c.4250C= (p.Pro1417=)
c.1832C= (p.Pro611=)
c.*2688C= (n.*2688C=)
n.4074C=
c.1883C= (p.Pro628=)
c.4004C= (p.Pro1335=)
c.3275C= (p.Pro1092=)
c.2435C= (p.Pro812=)
16g.1511083G>TCA7812815IFT140c.4250C>A (p.Pro1417Gln)
c.1832C>A (p.Pro611Gln)
c.*2688C>A (n.*2688C>A)
n.4074C>A
c.1883C>A (p.Pro628Gln)
c.4004C>A (p.Pro1335Gln)
c.3275C>A (p.Pro1092Gln)
c.2435C>A (p.Pro812Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511084G>ACA394222452IFT140c.4249C>T (p.Pro1417Ser)
c.1831C>T (p.Pro611Ser)
c.*2687C>T (n.*2687C>T)
n.4073C>T
c.1882C>T (p.Pro628Ser)
c.4003C>T (p.Pro1335Ser)
c.3274C>T (p.Pro1092Ser)
c.2434C>T (p.Pro812Ser)
16g.1511084G>CCA394222453IFT140c.4249C>G (p.Pro1417Ala)
c.1831C>G (p.Pro611Ala)
c.*2687C>G (n.*2687C>G)
n.4073C>G
c.1882C>G (p.Pro628Ala)
c.4003C>G (p.Pro1335Ala)
c.3274C>G (p.Pro1092Ala)
c.2434C>G (p.Pro812Ala)
16g.1511084G>TCA394222454IFT140c.4249C>A (p.Pro1417Thr)
c.1831C>A (p.Pro611Thr)
c.*2687C>A (n.*2687C>A)
n.4073C>A
c.1882C>A (p.Pro628Thr)
c.4003C>A (p.Pro1335Thr)
c.3274C>A (p.Pro1092Thr)
c.2434C>A (p.Pro812Thr)
 gnomAD v4
16g.1511085G>ACA493031532IFT140c.4248C>T (p.Ser1416=)
c.1830C>T (p.Ser610=)
c.*2686C>T (n.*2686C>T)
n.4072C>T
c.1881C>T (p.Ser627=)
c.4002C>T (p.Ser1334=)
c.3273C>T (p.Ser1091=)
c.2433C>T (p.Ser811=)
16g.1511085G>CCA394222455IFT140c.4248C>G (p.Ser1416Arg)
c.1830C>G (p.Ser610Arg)
c.*2686C>G (n.*2686C>G)
n.4072C>G
c.1881C>G (p.Ser627Arg)
c.4002C>G (p.Ser1334Arg)
c.3273C>G (p.Ser1091Arg)
c.2433C>G (p.Ser811Arg)
16g.1511085G>TCA394222456IFT140c.4248C>A (p.Ser1416Arg)
c.1830C>A (p.Ser610Arg)
c.*2686C>A (n.*2686C>A)
n.4072C>A
c.1881C>A (p.Ser627Arg)
c.4002C>A (p.Ser1334Arg)
c.3273C>A (p.Ser1091Arg)
c.2433C>A (p.Ser811Arg)
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)

Number of alleles fetched