Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1511086C>A | CA394222457 | IFT140 | c.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) | |
16 | g.1511086C= | CA2201718419 | IFT140 | c.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=) | |
16 | g.1511086C>G | CA394222458 | IFT140 | c.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) | |
16 | g.1511086C>T | CA7812816 | IFT140 | c.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 |
16 | g.1511087T>A | CA394222459 | IFT140 | c.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) | |
16 | g.1511087T>C | CA394222460 | IFT140 | c.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) | |
16 | g.1511087T>G | CA394222461 | IFT140 | c.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 |
16 | g.1511088C>A | CA493031541 | IFT140 | c.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 |
16 | g.1511088C= | CA2201718420 | IFT140 | c.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=) | |
16 | g.1511088C>G | CA493031542 | IFT140 | c.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=) | |
16 | g.1511088C>T | CA493031543 | IFT140 | c.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 |
16 | g.1511089A>C | CA394222462 | IFT140 | c.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) | |
16 | g.1511089A>G | CA394222464 | IFT140 | c.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 |
16 | g.1511089A>T | CA394222463 | IFT140 | c.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) | |
16 | g.1511090C>A | CA394222465 | IFT140 | c.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 |
16 | g.1511090C= | CA2201718421 | IFT140 | c.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=) | |
16 | g.1511090C>G | CA394222466 | IFT140 | c.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) | |
16 | g.1511090C>T | CA7812817 | IFT140 | c.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 |
16 | g.1511091G>A | CA493031549 | IFT140 | c.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 |
16 | g.1511091G>C | CA394222467 | IFT140 | c.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) | |
16 | g.1511091G= | CA2201718422 | IFT140 | c.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=) | |
16 | g.1511091G>T | CA394222468 | IFT140 | c.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 |
16 | g.1511092T>A | CA394222469 | IFT140 | c.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) | |
16 | g.1511092T>C | CA394222470 | IFT140 | c.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 |
16 | g.1511092T>G | CA394222471 | IFT140 | c.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) | |
16 | g.1511092T= | CA2201718423 | IFT140 | c.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=) | |
16 | g.1511093A= | CA2201718424 | IFT140 | c.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=) | |
16 | g.1511093A>C | CA394222472 | IFT140 | c.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) | |
16 | g.1511093A>G | CA394222473 | IFT140 | c.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 |
16 | g.1511093A>T | CA394222474 | IFT140 | c.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) | |
16 | g.1511094G>A | CA493031553 | IFT140 | c.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=) | |
16 | g.1511094G>C | CA394222476 | IFT140 | c.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) | |
16 | g.1511094G>T | CA394222475 | IFT140 | c.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) | |
16 | g.1511095_1511098dup | CA658798458 | IFT140 | c.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 |
16 | g.1511095T>A | CA394222477 | IFT140 | c.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) | |
16 | g.1511095T>C | CA394222479 | IFT140 | c.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) | |
16 | g.1511095T>G | CA394222478 | IFT140 | c.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 |
16 | g.1511096A>C | CA394222480 | IFT140 | c.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) | |
16 | g.1511096A>G | CA394222481 | IFT140 | c.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) | |
16 | g.1511096A>T | CA394222482 | IFT140 | c.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) | |
16 | g.1511097G>A | CA7812818 | IFT140 | c.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 |
16 | g.1511097G>C | CA493031558 | IFT140 | c.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=) | |
16 | g.1511097G= | CA2201718425 | IFT140 | c.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=) | |
16 | g.1511097G>T | CA493031560 | IFT140 | c.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 |
16 | g.1511098G>A | CA394222483 | IFT140 | c.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 |
16 | g.1511098G>C | CA394222484 | IFT140 | c.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) | |
16 | g.1511098G= | CA2201718426 | IFT140 | c.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=) | |
16 | g.1511098G>T | CA394222485 | IFT140 | c.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) | |
16 | g.1511099A>C | CA394222486 | IFT140 | c.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) | |
16 | g.1511099A>G | CA394222487 | IFT140 | c.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 |
16 | g.1511099A>T | CA394222488 | IFT140 | c.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) | |
16 | g.1511100C>A | CA394222489 | IFT140 | c.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) | |
16 | g.1511100C>G | CA394222490 | IFT140 | c.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 |
16 | g.1511100C>T | CA394222491 | IFT140 | c.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) | |
16 | g.1511101A= | CA2201718427 | IFT140 | c.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=) | |
16 | g.1511101A>C | CA7812819 | IFT140 | c.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 |
16 | g.1511101A>G | CA276668314 | IFT140 | c.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 |
16 | g.1511101A>T | CA394222492 | IFT140 | c.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 |
16 | g.1511101_1511104delinsATGT | CA2201718428 | IFT140 | c.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=) | |
16 | g.1511102T>A | CA394222493 | IFT140 | c.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) | |
16 | g.1511102T>C | CA394222494 | IFT140 | c.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 |
16 | g.1511102T>G | CA394222495 | IFT140 | c.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 |
16 | g.1511102T= | CA2201718430 | IFT140 | c.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=) | |
16 | g.1511102dup | CA973715139 | IFT140 | c.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 |
16 | g.1511104_1511106del | CA2201718429 | IFT140 | c.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 |
16 | g.1511103G>A | CA493031570 | IFT140 | c.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 |
16 | g.1511103G>C | CA394222496 | IFT140 | c.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) | |
16 | g.1511103G= | CA2201718431 | IFT140 | c.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=) | |
16 | g.1511103G>T | CA7812820 | IFT140 | c.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 |
16 | g.1511103_1511104insACA | CA2805557754 | IFT140 | c.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) | |
16 | g.1511104T>A | CA394222497 | IFT140 | c.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) | |
16 | g.1511104T>C | CA394222498 | IFT140 | c.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 |
16 | g.1511104T>G | CA394222499 | IFT140 | c.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) | |
16 | g.1511104T= | CA2201718432 | IFT140 | c.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=) | |
16 | g.1511105T>A | CA394222500 | IFT140 | c.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 |
16 | g.1511105T>C | CA394222501 | IFT140 | c.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 |
16 | g.1511105T>G | CA7812821 | IFT140 | c.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 |
16 | g.1511105T= | CA2201718433 | IFT140 | c.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=) | |
16 | g.1511106G>A | CA7812822 | IFT140 | c.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 |
16 | g.1511106G>C | CA7812823 | IFT140 | c.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 |
16 | g.1511106G= | CA2201718434 | IFT140 | c.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=) | |
16 | g.1511106G>T | CA493031581 | IFT140 | c.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=) | |
16 | g.1511107G>A | CA394222502 | IFT140 | c.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 |
16 | g.1511107G>C | CA394222503 | IFT140 | c.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) | |
16 | g.1511107G>T | CA394222504 | IFT140 | c.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) | |
16 | g.1511108C>A | CA394222505 | IFT140 | c.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 |
16 | g.1511108C= | CA2201718435 | IFT140 | c.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=) | |
16 | g.1511108C>G | CA276668324 | IFT140 | c.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 |
16 | g.1511108C>T | CA394222506 | IFT140 | c.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 |
16 | g.1511109C>A | CA394222508 | IFT140 | c.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) | |
16 | g.1511109C>G | CA394222507 | IFT140 | c.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) | |
16 | g.1511109C>T | CA493031589 | IFT140 | c.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 |
16 | g.1511110A>C | CA394222509 | IFT140 | c.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) | |
16 | g.1511110A>G | CA394222510 | IFT140 | c.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 |
16 | g.1511110A>T | CA394222511 | IFT140 | c.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) | |
16 | g.1511111A>C | CA394222512 | IFT140 | c.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) | |
16 | g.1511111A>G | CA493031590 | IFT140 | c.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=) | |
16 | g.1511111A>T | CA394222513 | IFT140 | c.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) | |
16 | g.1511112G>A | CA276668326 | IFT140 | c.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 |
16 | g.1511112G>C | CA493031592 | IFT140 | c.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 |
16 | g.1511112G= | CA2201718436 | IFT140 | c.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=) | |
16 | g.1511112G>T | CA493031593 | IFT140 | c.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 |
16 | g.1511113G>A | CA394222514 | IFT140 | c.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 |
16 | g.1511113G>C | CA394222516 | IFT140 | c.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) | |
16 | g.1511113G>T | CA394222515 | IFT140 | c.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) | |
16 | g.1511114G>A | CA394222517 | IFT140 | c.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 |
16 | g.1511114G>C | CA394222518 | IFT140 | c.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) | |
16 | g.1511114G= | CA2201718437 | IFT140 | c.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=) | |
16 | g.1511114G>T | CA394222519 | IFT140 | c.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) | |
16 | g.1511115A>C | CA493031596 | IFT140 | c.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=) | |
16 | g.1511115A>G | CA493031598 | IFT140 | c.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=) | |
16 | g.1511115A>T | CA493031600 | IFT140 | c.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=) | |
16 | g.1511115_1511116insGCC | CA276668330 | IFT140 | c.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) | |
16 | g.1511116A>C | CA394222520 | IFT140 | c.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) | |
16 | g.1511116A>G | CA394222521 | IFT140 | c.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) | |
16 | g.1511116A>T | CA394222522 | IFT140 | c.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) | |
16 | g.1511116_1511119delinsAGCC | CA2201718438 | IFT140 | c.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=) | |
16 | g.1511117G>A | CA394222523 | IFT140 | c.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 |
16 | g.1511117G>C | CA394222524 | IFT140 | c.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 |
16 | g.1511117G>T | CA394222525 | IFT140 | c.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) | |
16 | g.1511125_1511127dup | CA7812824 | IFT140 | c.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 |
16 | g.1511125_1511127del | CA276668331 | IFT140 | c.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 |
16 | g.1511118C>A | CA493031605 | IFT140 | c.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=) | |
16 | g.1511118C= | CA2201718439 | IFT140 | c.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=) | |
16 | g.1511118C>G | CA493031608 | IFT140 | c.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 |
16 | g.1511118C>T | CA493031607 | IFT140 | c.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 |
16 | g.1511119C>A | CA394222527 | IFT140 | c.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 |
16 | g.1511119C= | CA2201718440 | IFT140 | c.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=) | |
16 | g.1511119C>G | CA394222526 | IFT140 | c.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) | |
16 | g.1511119C>T | CA7812825 | IFT140 | c.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 |
16 | g.1511119_1511120insT | CA2631006846 | IFT140 | c.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 |
16 | g.1511120G>A | CA7812826 | IFT140 | c.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 |
16 | g.1511120G>C | CA394222528 | IFT140 | c.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) | |
16 | g.1511120G= | CA2201718441 | IFT140 | c.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=) | |
16 | g.1511120G>T | CA493031610 | IFT140 | c.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 |
16 | g.1511121C>A | CA493031613 | IFT140 | c.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 |
16 | g.1511121C>G | CA493031616 | IFT140 | c.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=) | |
16 | g.1511121C>T | CA493031618 | IFT140 | c.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=) | |
16 | g.1511121_1511122insA | CA2805557755 | IFT140 | c.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?) | |
16 | g.1511122C>A | CA394222529 | IFT140 | c.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 |
16 | g.1511122C= | CA2201718442 | IFT140 | c.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=) | |
16 | g.1511122C>G | CA394222530 | IFT140 | c.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) | |
16 | g.1511122C>T | CA7812827 | IFT140 | c.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 |
16 | g.1511123G>A | CA394222531 | IFT140 | c.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 |
16 | g.1511123G>C | CA394222532 | IFT140 | c.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) | |
16 | g.1511123G= | CA2201718443 | IFT140 | c.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=) | |
16 | g.1511123G>T | CA493031624 | IFT140 | c.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 |
16 | g.1511124C>A | CA493031633 | IFT140 | c.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=) | |
16 | g.1511124C= | CA2201718444 | IFT140 | c.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=) | |
16 | g.1511124C>G | CA493031635 | IFT140 | c.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=) | |
16 | g.1511124C>T | CA7812828 | IFT140 | c.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 |
16 | g.1511125C>A | CA394222533 | IFT140 | c.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 |
16 | g.1511125C= | CA2201718445 | IFT140 | c.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=) | |
16 | g.1511125C>G | CA394222534 | IFT140 | c.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) | |
16 | g.1511125C>T | CA7812829 | IFT140 | c.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 |
16 | g.1511126del | CA2631006935 | IFT140 | c.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 |
16 | g.1511126G>A | CA7812830 | IFT140 | c.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 |
16 | g.1511126G>C | CA394222535 | IFT140 | c.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 |
16 | g.1511126G= | CA2201718446 | IFT140 | c.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=) | |
16 | g.1511126G>T | CA493031648 | IFT140 | c.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 |
16 | g.1511127C>A | CA394222536 | IFT140 | c.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 |
16 | g.1511127C= | CA2201718447 | IFT140 | c.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=) | |
16 | g.1511127C>G | CA394222537 | IFT140 | c.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) | |
16 | g.1511127C>T | CA276668350 | IFT140 | c.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 |
16 | g.1511127_1511128insCTC | CA718376229 | IFT140 | c.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 |
16 | g.1511128A= | CA2201718448 | IFT140 | c.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=) | |
16 | g.1511128A>C | CA394222539 | IFT140 | c.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) | |
16 | g.1511128A>G | CA7812831 | IFT140 | c.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 |
16 | g.1511128A>T | CA394222538 | IFT140 | c.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) | |
16 | g.1511129T>A | CA394222540 | IFT140 | c.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) | |
16 | g.1511129T>C | CA394222541 | IFT140 | c.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 |
16 | g.1511129T>G | CA394222542 | IFT140 | c.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) | |
16 | g.1511129_1511132delinsTCTC | CA2201718449 | IFT140 | c.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=) | |
16 | g.1511130C>A | CA394222543 | IFT140 | c.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 |
16 | g.1511130C= | CA2201718450 | IFT140 | c.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=) | |
16 | g.1511130C>G | CA394222544 | IFT140 | c.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 |
16 | g.1511130C>T | CA493031663 | IFT140 | c.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 |
16 | g.1511134_1511136del | CA973715157 | IFT140 | c.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 |
16 | g.1511131T>A | CA394222545 | IFT140 | c.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) | |
16 | g.1511131T>C | CA394222546 | IFT140 | c.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) | |
16 | g.1511131T>G | CA394222547 | IFT140 | c.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) | |
16 | g.1511132C>A | CA394222548 | IFT140 | c.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) | |
16 | g.1511132C= | CA2201718451 | IFT140 | c.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=) | |
16 | g.1511132C>G | CA394222549 | IFT140 | c.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 |
16 | g.1511132C>T | CA394222550 | IFT140 | c.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 |
16 | g.1511133C>A | CA394222552 | IFT140 | c.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 |
16 | g.1511133C= | CA2201718452 | IFT140 | c.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=) | |
16 | g.1511133C>G | CA394222551 | IFT140 | c.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) | |
16 | g.1511133C>T | CA276668366 | IFT140 | c.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 |
16 | g.1511134T>A | CA394222553 | IFT140 | c.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) | |
16 | g.1511134T>C | CA394222554 | IFT140 | c.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) | |
16 | g.1511134T>G | CA394222555 | IFT140 | c.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) | |
16 | g.1511135C>A | CA394222556 | IFT140 | c.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) | |
16 | g.1511135C>G | CA394222557 | IFT140 | c.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) | |
16 | g.1511135C>T | CA394222558 | IFT140 | c.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) | |
16 | g.1511136C>A | CA493031678 | IFT140 | c.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 |
16 | g.1511136C>G | CA493031683 | IFT140 | c.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=) | |
16 | g.1511136C>T | CA493031684 | IFT140 | c.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=) | |
16 | g.1511137A= | CA2201718453 | IFT140 | c.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=) | |
16 | g.1511137A>C | CA394222559 | IFT140 | c.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) | |
16 | g.1511137A>G | CA7812832 | IFT140 | c.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 |
16 | g.1511137A>T | CA394222560 | IFT140 | c.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) | |
16 | g.1511138G>A | CA276668370 | IFT140 | c.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 |
16 | g.1511138G>C | CA394222561 | IFT140 | c.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) | |
16 | g.1511138G= | CA2201718454 | IFT140 | c.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=) | |
16 | g.1511138G>T | CA394222562 | IFT140 | c.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 |
16 | g.1511139G>A | CA493031685 | IFT140 | c.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=) | |
16 | g.1511139G>C | CA394222563 | IFT140 | c.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) | |
16 | g.1511139G= | CA2201718455 | IFT140 | c.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=) | |
16 | g.1511139G>T | CA276668371 | IFT140 | c.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 |
16 | g.1511140A>C | CA394222566 | IFT140 | c.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) | |
16 | g.1511140A>G | CA394222564 | IFT140 | c.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) | |
16 | g.1511140A>T | CA394222565 | IFT140 | c.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) | |
16 | g.1511141A= | CA2201718456 | IFT140 | c.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=) | |
16 | g.1511141A>C | CA394222567 | IFT140 | c.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 |
16 | g.1511141A>G | CA394222568 | IFT140 | c.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 |
16 | g.1511141A>T | CA394222569 | IFT140 | c.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) | |
16 | g.1511142T>A | CA394222570 | IFT140 | c.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) | |
16 | g.1511142T>C | CA493031697 | IFT140 | c.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=) | |
16 | g.1511142T>G | CA394222571 | IFT140 | c.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) | |
16 | g.1511143C>A | CA394222572 | IFT140 | c.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 |
16 | g.1511143C= | CA2201718457 | IFT140 | c.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=) | |
16 | g.1511143C>G | CA394222573 | IFT140 | c.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) | |
16 | g.1511143C>T | CA7812833 | IFT140 | c.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 |
16 | g.1511144T>A | CA394222574 | IFT140 | c.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) | |
16 | g.1511144T>C | CA394222575 | IFT140 | c.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 |
16 | g.1511144T>G | CA493031710 | IFT140 | c.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=) | |
16 | g.1511144T= | CA2201718458 | IFT140 | c.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=) | |
16 | g.1511145G>A | CA493031711 | IFT140 | c.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 |
16 | g.1511145G>C | CA394222576 | IFT140 | c.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) | |
16 | g.1511145G= | CA2201718459 | IFT140 | c.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=) | |
16 | g.1511145G>T | CA394222577 | IFT140 | c.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) | |
16 | g.1511146T>A | CA394222579 | IFT140 | c.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) | |
16 | g.1511146T>C | CA394222580 | IFT140 | c.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 |
16 | g.1511146T>G | CA394222578 | IFT140 | c.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) | |
16 | g.1511146T= | CA2201718460 | IFT140 | c.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=) | |
16 | g.1511147A= | CA2201718461 | IFT140 | c.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=) | |
16 | g.1511147A>C | CA394222583 | IFT140 | c.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) | |
16 | g.1511147A>G | CA394222581 | IFT140 | c.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 |
16 | g.1511147A>T | CA394222582 | IFT140 | c.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) | |
16 | g.1511148G>A | CA493031725 | IFT140 | c.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=) | |
16 | g.1511148G>C | CA493031724 | IFT140 | c.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=) | |
16 | g.1511148G>T | CA493031723 | IFT140 | c.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=) | |
16 | g.1511149G>A | CA394222584 | IFT140 | c.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) | |
16 | g.1511149G>C | CA394222585 | IFT140 | c.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) | |
16 | g.1511149G>T | CA394222586 | IFT140 | c.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 |
16 | g.1511150C>A | CA394222587 | IFT140 | c.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 |
16 | g.1511150C>G | CA394222588 | IFT140 | c.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) | |
16 | g.1511150C>T | CA394222589 | IFT140 | c.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 |
16 | g.1511151C>A | CA394222590 | IFT140 | c.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) | |
16 | g.1511151C>G | CA394222591 | IFT140 | c.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) | |
16 | g.1511151C>T | CA394222592 | IFT140 | c.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) | |
16 | g.1511152T>A | CA394222593 | IFT140 | c.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) | |
16 | g.1511152T>C | CA394222594 | IFT140 | c.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 |
16 | g.1511152T>G | CA394222595 | IFT140 | c.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) | |
16 | g.1511153G>A | CA620700872 | IFT140 | c.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 |
16 | g.1511153G= | CA2201718462 | IFT140 | c.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=) | |
16 | g.1511153G>T | CA2631007080 | IFT140 | c.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 |
16 | g.1511156del | CA2575869170 | IFT140 | c.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 |
16 | g.1511154G>A | CA2631007083 | IFT140 | c.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 |
16 | g.1511154G>T | CA2631007091 | IFT140 | c.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 |
16 | g.1511155G>T | CA2631007095 | IFT140 | c.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 |
16 | g.1511156G>A | CA620700874 | IFT140 | c.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 |
16 | g.1511156G= | CA2201718463 | IFT140 | c.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=) | |
16 | g.1511156G>T | CA2631007101 | IFT140 | c.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 |
16 | g.1511157C>A | CA2631007104 | IFT140 | c.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 |
16 | g.1511157C>T | CA2631007105 | IFT140 | c.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 |
16 | g.1511158A= | CA2201718464 | IFT140 | c.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=) | |
16 | g.1511158A>C | CA2631007106 | IFT140 | c.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 |
16 | g.1511158A>G | CA620700875 | IFT140 | c.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 |
16 | g.1511159G>A | CA2631007109 | IFT140 | c.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 |
16 | g.1511159G>C | CA2573054140 | IFT140 | c.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 |
16 | g.1511159G>T | CA2631007110 | IFT140 | c.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 |
16 | g.1511160A>G | CA2631007113 | IFT140 | c.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 |
16 | g.1511161G>A | CA7812834 | IFT140 | c.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 |
16 | g.1511161G= | CA2201718465 | IFT140 | c.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=) | |
16 | g.1511162del | CA2631007116 | IFT140 | c.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 |
16 | g.1511162G>A | CA620700876 | IFT140 | c.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 |
16 | g.1511162G>C | CA2201718467 | IFT140 | c.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 |
16 | g.1511162G= | CA2201718466 | IFT140 | c.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=) | |
16 | g.1511163A= | CA2201718468 | IFT140 | c.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=) | |
16 | g.1511163A>C | CA2201718469 | IFT140 | c.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 |
16 | g.1511163A>G | CA2631007139 | IFT140 | c.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 |
16 | g.1511164G>A | CA2201718470 | IFT140 | c.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 |
16 | g.1511164G= | CA2201718471 | IFT140 | c.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=) | |
16 | g.1511164G>T | CA276668375 | IFT140 | c.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 |
16 | g.1511165C>A | CA2631007151 | IFT140 | c.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 |
16 | g.1511166A= | CA2201718472 | IFT140 | c.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=) | |
16 | g.1511166A>C | CA7812835 | IFT140 | c.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 |
16 | g.1511166A>G | CA2631007156 | IFT140 | c.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 |
16 | g.1511167G>A | CA2631007159 | IFT140 | c.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 |
16 | g.1511167G>C | CA973715166 | IFT140 | c.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 |
16 | g.1511167G= | CA2201718473 | IFT140 | c.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=) | |
16 | g.1511167G>T | CA2631007163 | IFT140 | c.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 |
16 | g.1511168A>C | CA2631007172 | IFT140 | c.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 |
16 | g.1511170_1511174del | CA2631007169 | IFT140 | c.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 |
16 | g.1511169C>A | CA7812836 | IFT140 | c.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 |
16 | g.1511169C= | CA2201718474 | IFT140 | c.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=) | |
16 | g.1511169C>T | CA620343057 | IFT140 | c.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 |
16 | g.1511170A= | CA2201718475 | IFT140 | c.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=) | |
16 | g.1511170A>G | CA7812837 | IFT140 | c.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 |
16 | g.1511170A>T | CA2631007194 | IFT140 | c.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 |
16 | g.1511170_1511171delinsAT | CA2201718476 | IFT140 | c.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) | |
16 | g.1511170_1511171dup | CA2580090750 | IFT140 | c.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 |
16 | g.1511171T>G | CA620343059 | IFT140 | c.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 |
16 | g.1511171T= | CA2201718477 | IFT140 | c.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=) | |
16 | g.1511172del | CA620343058 | IFT140 | c.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 |
16 | g.1511172T>A | CA7812838 | IFT140 | c.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 |
16 | g.1511172T= | CA2201718478 | IFT140 | c.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=) | |
16 | g.1511173A= | CA2201718479 | IFT140 | c.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=) | |
16 | g.1511173A>G | CA620343060 | IFT140 | c.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 |
16 | g.1511173A>T | CA2201718480 | IFT140 | c.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 |
16 | g.1511174C>A | CA2631007210 | IFT140 | c.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 |
16 | g.1511174C= | CA2201718481 | IFT140 | c.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=) | |
16 | g.1511174C>G | CA973715173 | IFT140 | c.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 |
16 | g.1511176C>A | CA2631007218 | IFT140 | c.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 |
16 | g.1511176C= | CA2201718482 | IFT140 | c.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=) | |
16 | g.1511176C>G | CA7812839 | IFT140 | c.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 |
16 | g.1511176C>T | CA2631007216 | IFT140 | c.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 |
16 | g.1511177A>G | CA2631007223 | IFT140 | c.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 |
16 | g.1511178G>T | CA2631007224 | IFT140 | c.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 |
16 | g.1511179C>A | CA2631007226 | IFT140 | c.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 |
16 | g.1511179C>G | CA2805557756 | IFT140 | c.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) | |
16 | g.1511182T>C | CA7812841 | IFT140 | c.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 |
16 | g.1511182T= | CA2201718483 | IFT140 | c.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=) | |
16 | g.1511182_1511183delinsTC | CA2201718484 | IFT140 | c.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) | |
16 | g.1511183C>A | CA620343061 | IFT140 | c.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 |
16 | g.1511183C= | CA2201718485 | IFT140 | c.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=) | |
16 | g.1511183C>T | CA7812842 | IFT140 | c.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 |
16 | g.1511184del | CA7812840 | IFT140 | c.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 |
16 | g.1511184C>A | CA2569479768 | IFT140 | c.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) | |
16 | g.1511184C>T | CA2631007235 | IFT140 | c.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 |
16 | g.1511185T>C | CA7812843 | IFT140 | c.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 |
16 | g.1511185T>G | CA2575869177 | IFT140 | c.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) | |
16 | g.1511185T= | CA2201718486 | IFT140 | c.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=) | |
16 | g.1511186G>C | CA7812844 | IFT140 | c.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 |
16 | g.1511186G= | CA2201718487 | IFT140 | c.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=) | |
16 | g.1511186G>T | CA2631007240 | IFT140 | c.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 |