| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1525973G>A | CA492932380 | IFT140 | c.2682C>T (p.His894=) c.264C>T (p.His88=) c.*1120C>T (n.*1120C>T) n.1911C>T n.397C>T c.315C>T (p.His105=) c.2436C>T (p.His812=) c.1707C>T (p.His569=) c.867C>T (p.His289=) | dbSNP |
| 16 | g.1525973G>C | CA394227404 | IFT140 | c.2682C>G (p.His894Gln) c.264C>G (p.His88Gln) c.*1120C>G (n.*1120C>G) n.1911C>G n.397C>G c.315C>G (p.His105Gln) c.2436C>G (p.His812Gln) c.1707C>G (p.His569Gln) c.867C>G (p.His289Gln) | |
| 16 | g.1525973G= | CA2201699142 | IFT140 | c.2682C= (p.His894=) c.264C= (p.His88=) c.*1120C= (n.*1120C=) n.1911C= n.397C= c.315C= (p.His105=) c.2436C= (p.His812=) c.1707C= (p.His569=) c.867C= (p.His289=) | |
| 16 | g.1525973G>T | CA7813535 | IFT140 | c.2682C>A (p.His894Gln) c.264C>A (p.His88Gln) c.*1120C>A (n.*1120C>A) n.1911C>A n.397C>A c.315C>A (p.His105Gln) c.2436C>A (p.His812Gln) c.1707C>A (p.His569Gln) c.867C>A (p.His289Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1525973delinsTT | CA2580090659 | IFT140 | c.2682delinsAA (p.His894GlnfsTer?) c.264delinsAA (p.His88GlnfsTer?) c.*1120delinsAA (n.*1120delinsAA) n.1911delinsAA n.397delinsAA c.315delinsAA (p.His105GlnfsTer?) c.2436delinsAA (p.His812GlnfsTer?) c.1707delinsAA (p.His569GlnfsTer?) c.867delinsAA (p.His289GlnfsTer?) | ClinVar |
| 16 | g.1525974T>A | CA394227406 | IFT140 | c.2681A>T (p.His894Leu) c.263A>T (p.His88Leu) c.*1119A>T (n.*1119A>T) n.1910A>T n.396A>T c.314A>T (p.His105Leu) c.2435A>T (p.His812Leu) c.1706A>T (p.His569Leu) c.866A>T (p.His289Leu) | |
| 16 | g.1525974T>C | CA394227408 | IFT140 | c.2681A>G (p.His894Arg) c.263A>G (p.His88Arg) c.*1119A>G (n.*1119A>G) n.1910A>G n.396A>G c.314A>G (p.His105Arg) c.2435A>G (p.His812Arg) c.1706A>G (p.His569Arg) c.866A>G (p.His289Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1525974T>G | CA394227410 | IFT140 | c.2681A>C (p.His894Pro) c.263A>C (p.His88Pro) c.*1119A>C (n.*1119A>C) n.1910A>C n.396A>C c.314A>C (p.His105Pro) c.2435A>C (p.His812Pro) c.1706A>C (p.His569Pro) c.866A>C (p.His289Pro) | dbSNP |
| 16 | g.1525974T= | CA2201699143 | IFT140 | c.2681A= (p.His894=) c.263A= (p.His88=) c.*1119A= (n.*1119A=) n.1910A= n.396A= c.314A= (p.His105=) c.2435A= (p.His812=) c.1706A= (p.His569=) c.866A= (p.His289=) | |
| 16 | g.1525975G>A | CA276680454 | IFT140 | c.2680C>T (p.His894Tyr) c.262C>T (p.His88Tyr) c.*1118C>T (n.*1118C>T) n.1909C>T n.395C>T c.313C>T (p.His105Tyr) c.2434C>T (p.His812Tyr) c.1705C>T (p.His569Tyr) c.865C>T (p.His289Tyr) | dbSNP gnomAD v4 |
| 16 | g.1525975G>C | CA394227414 | IFT140 | c.2680C>G (p.His894Asp) c.262C>G (p.His88Asp) c.*1118C>G (n.*1118C>G) n.1909C>G n.395C>G c.313C>G (p.His105Asp) c.2434C>G (p.His812Asp) c.1705C>G (p.His569Asp) c.865C>G (p.His289Asp) | |
| 16 | g.1525975G= | CA2201699144 | IFT140 | c.2680C= (p.His894=) c.262C= (p.His88=) c.*1118C= (n.*1118C=) n.1909C= n.395C= c.313C= (p.His105=) c.2434C= (p.His812=) c.1705C= (p.His569=) c.865C= (p.His289=) | |
| 16 | g.1525975G>T | CA394227412 | IFT140 | c.2680C>A (p.His894Asn) c.262C>A (p.His88Asn) c.*1118C>A (n.*1118C>A) n.1909C>A n.395C>A c.313C>A (p.His105Asn) c.2434C>A (p.His812Asn) c.1705C>A (p.His569Asn) c.865C>A (p.His289Asn) | gnomAD v4 |
| 16 | g.1525976_1525988del | CA2631008974 | IFT140 | c.2668_2680del (p.Gln890ThrfsTer?) c.250_262del (p.Gln84ThrfsTer?) c.*1106_*1118del (n.*1106_*1118del) n.1897_1909del n.383_395del c.301_313del (p.Gln101ThrfsTer?) c.2422_2434del (p.Gln808ThrfsTer?) c.1693_1705del (p.Gln565ThrfsTer?) c.853_865del (p.Gln285ThrfsTer?) | gnomAD v4 |
| 16 | g.1525976C>A | CA394227416 | IFT140 | c.2679G>T (p.Glu893Asp) c.261G>T (p.Glu87Asp) c.*1117G>T (n.*1117G>T) n.1908G>T n.394G>T c.312G>T (p.Glu104Asp) c.2433G>T (p.Glu811Asp) c.1704G>T (p.Glu568Asp) c.864G>T (p.Glu288Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1525976C= | CA2201699145 | IFT140 | c.2679G= (p.Glu893=) c.261G= (p.Glu87=) c.*1117G= (n.*1117G=) n.1908G= n.394G= c.312G= (p.Glu104=) c.2433G= (p.Glu811=) c.1704G= (p.Glu568=) c.864G= (p.Glu288=) | |
| 16 | g.1525976C>G | CA394227418 | IFT140 | c.2679G>C (p.Glu893Asp) c.261G>C (p.Glu87Asp) c.*1117G>C (n.*1117G>C) n.1908G>C n.394G>C c.312G>C (p.Glu104Asp) c.2433G>C (p.Glu811Asp) c.1704G>C (p.Glu568Asp) c.864G>C (p.Glu288Asp) | |
| 16 | g.1525976C>T | CA7813536 | IFT140 | c.2679G>A (p.Glu893=) c.261G>A (p.Glu87=) c.*1117G>A (n.*1117G>A) n.1908G>A n.394G>A c.312G>A (p.Glu104=) c.2433G>A (p.Glu811=) c.1704G>A (p.Glu568=) c.864G>A (p.Glu288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1525977T>A | CA394227420 | IFT140 | c.2678A>T (p.Glu893Val) c.260A>T (p.Glu87Val) c.*1116A>T (n.*1116A>T) n.1907A>T n.393A>T c.311A>T (p.Glu104Val) c.2432A>T (p.Glu811Val) c.1703A>T (p.Glu568Val) c.863A>T (p.Glu288Val) | |
| 16 | g.1525977T>C | CA7813537 | IFT140 | c.2678A>G (p.Glu893Gly) c.260A>G (p.Glu87Gly) c.*1116A>G (n.*1116A>G) n.1907A>G n.393A>G c.311A>G (p.Glu104Gly) c.2432A>G (p.Glu811Gly) c.1703A>G (p.Glu568Gly) c.863A>G (p.Glu288Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1525977T>G | CA394227422 | IFT140 | c.2678A>C (p.Glu893Ala) c.260A>C (p.Glu87Ala) c.*1116A>C (n.*1116A>C) n.1907A>C n.393A>C c.311A>C (p.Glu104Ala) c.2432A>C (p.Glu811Ala) c.1703A>C (p.Glu568Ala) c.863A>C (p.Glu288Ala) | |
| 16 | g.1525977T= | CA2201699146 | IFT140 | c.2678A= (p.Glu893=) c.260A= (p.Glu87=) c.*1116A= (n.*1116A=) n.1907A= n.393A= c.311A= (p.Glu104=) c.2432A= (p.Glu811=) c.1703A= (p.Glu568=) c.863A= (p.Glu288=) | |
| 16 | g.1525978C>A | CA394227424 | IFT140 | c.2677G>T (p.Glu893Ter) c.259G>T (p.Glu87Ter) c.*1115G>T (n.*1115G>T) n.1906G>T n.392G>T c.310G>T (p.Glu104Ter) c.2431G>T (p.Glu811Ter) c.1702G>T (p.Glu568Ter) c.862G>T (p.Glu288Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1525978C= | CA2201699147 | IFT140 | c.2677G= (p.Glu893=) c.259G= (p.Glu87=) c.*1115G= (n.*1115G=) n.1906G= n.392G= c.310G= (p.Glu104=) c.2431G= (p.Glu811=) c.1702G= (p.Glu568=) c.862G= (p.Glu288=) | |
| 16 | g.1525978C>G | CA394227426 | IFT140 | c.2677G>C (p.Glu893Gln) c.259G>C (p.Glu87Gln) c.*1115G>C (n.*1115G>C) n.1906G>C n.392G>C c.310G>C (p.Glu104Gln) c.2431G>C (p.Glu811Gln) c.1702G>C (p.Glu568Gln) c.862G>C (p.Glu288Gln) | |
| 16 | g.1525978C>T | CA7813538 | IFT140 | c.2677G>A (p.Glu893Lys) c.259G>A (p.Glu87Lys) c.*1115G>A (n.*1115G>A) n.1906G>A n.392G>A c.310G>A (p.Glu104Lys) c.2431G>A (p.Glu811Lys) c.1702G>A (p.Glu568Lys) c.862G>A (p.Glu288Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1525979G>A | CA7813539 | IFT140 | c.2676C>T (p.Ala892=) c.258C>T (p.Ala86=) c.*1114C>T (n.*1114C>T) n.1905C>T n.391C>T c.309C>T (p.Ala103=) c.2430C>T (p.Ala810=) c.1701C>T (p.Ala567=) c.861C>T (p.Ala287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1525979G>C | CA492932382 | IFT140 | c.2676C>G (p.Ala892=) c.258C>G (p.Ala86=) c.*1114C>G (n.*1114C>G) n.1905C>G n.391C>G c.309C>G (p.Ala103=) c.2430C>G (p.Ala810=) c.1701C>G (p.Ala567=) c.861C>G (p.Ala287=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1525979G= | CA2201699148 | IFT140 | c.2676C= (p.Ala892=) c.258C= (p.Ala86=) c.*1114C= (n.*1114C=) n.1905C= n.391C= c.309C= (p.Ala103=) c.2430C= (p.Ala810=) c.1701C= (p.Ala567=) c.861C= (p.Ala287=) | |
| 16 | g.1525979G>T | CA492932381 | IFT140 | c.2676C>A (p.Ala892=) c.258C>A (p.Ala86=) c.*1114C>A (n.*1114C>A) n.1905C>A n.391C>A c.309C>A (p.Ala103=) c.2430C>A (p.Ala810=) c.1701C>A (p.Ala567=) c.861C>A (p.Ala287=) | gnomAD v4 |
| 16 | g.1525980G>A | CA394227429 | IFT140 | c.2675C>T (p.Ala892Val) c.257C>T (p.Ala86Val) c.*1113C>T (n.*1113C>T) n.1904C>T n.390C>T c.308C>T (p.Ala103Val) c.2429C>T (p.Ala810Val) c.1700C>T (p.Ala567Val) c.860C>T (p.Ala287Val) | gnomAD v4 |
| 16 | g.1525980G>C | CA7813540 | IFT140 | c.2675C>G (p.Ala892Gly) c.257C>G (p.Ala86Gly) c.*1113C>G (n.*1113C>G) n.1904C>G n.390C>G c.308C>G (p.Ala103Gly) c.2429C>G (p.Ala810Gly) c.1700C>G (p.Ala567Gly) c.860C>G (p.Ala287Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1525980G= | CA2201699149 | IFT140 | c.2675C= (p.Ala892=) c.257C= (p.Ala86=) c.*1113C= (n.*1113C=) n.1904C= n.390C= c.308C= (p.Ala103=) c.2429C= (p.Ala810=) c.1700C= (p.Ala567=) c.860C= (p.Ala287=) | |
| 16 | g.1525980G>T | CA394227432 | IFT140 | c.2675C>A (p.Ala892Asp) c.257C>A (p.Ala86Asp) c.*1113C>A (n.*1113C>A) n.1904C>A n.390C>A c.308C>A (p.Ala103Asp) c.2429C>A (p.Ala810Asp) c.1700C>A (p.Ala567Asp) c.860C>A (p.Ala287Asp) | |
| 16 | g.1525981C>A | CA394227437 | IFT140 | c.2674G>T (p.Ala892Ser) c.256G>T (p.Ala86Ser) c.*1112G>T (n.*1112G>T) n.1903G>T n.389G>T c.307G>T (p.Ala103Ser) c.2428G>T (p.Ala810Ser) c.1699G>T (p.Ala567Ser) c.859G>T (p.Ala287Ser) | gnomAD v4 |
| 16 | g.1525981C>G | CA394227435 | IFT140 | c.2674G>C (p.Ala892Pro) c.256G>C (p.Ala86Pro) c.*1112G>C (n.*1112G>C) n.1903G>C n.389G>C c.307G>C (p.Ala103Pro) c.2428G>C (p.Ala810Pro) c.1699G>C (p.Ala567Pro) c.859G>C (p.Ala287Pro) | |
| 16 | g.1525981C>T | CA394227434 | IFT140 | c.2674G>A (p.Ala892Thr) c.256G>A (p.Ala86Thr) c.*1112G>A (n.*1112G>A) n.1903G>A n.389G>A c.307G>A (p.Ala103Thr) c.2428G>A (p.Ala810Thr) c.1699G>A (p.Ala567Thr) c.859G>A (p.Ala287Thr) | gnomAD v4 |
| 16 | g.1525982T>A | CA492932383 | IFT140 | c.2673A>T (p.Val891=) c.255A>T (p.Val85=) c.*1111A>T (n.*1111A>T) n.1902A>T n.388A>T c.306A>T (p.Val102=) c.2427A>T (p.Val809=) c.1698A>T (p.Val566=) c.858A>T (p.Val286=) | |
| 16 | g.1525982T>C | CA492932384 | IFT140 | c.2673A>G (p.Val891=) c.255A>G (p.Val85=) c.*1111A>G (n.*1111A>G) n.1902A>G n.388A>G c.306A>G (p.Val102=) c.2427A>G (p.Val809=) c.1698A>G (p.Val566=) c.858A>G (p.Val286=) | |
| 16 | g.1525982T>G | CA492932385 | IFT140 | c.2673A>C (p.Val891=) c.255A>C (p.Val85=) c.*1111A>C (n.*1111A>C) n.1902A>C n.388A>C c.306A>C (p.Val102=) c.2427A>C (p.Val809=) c.1698A>C (p.Val566=) c.858A>C (p.Val286=) | |
| 16 | g.1525983A= | CA2201699150 | IFT140 | c.2672T= (p.Val891=) c.254T= (p.Val85=) c.*1110T= (n.*1110T=) n.1901T= n.387T= c.305T= (p.Val102=) c.2426T= (p.Val809=) c.1697T= (p.Val566=) c.857T= (p.Val286=) | |
| 16 | g.1525983A>C | CA394227438 | IFT140 | c.2672T>G (p.Val891Gly) c.254T>G (p.Val85Gly) c.*1110T>G (n.*1110T>G) n.1901T>G n.387T>G c.305T>G (p.Val102Gly) c.2426T>G (p.Val809Gly) c.1697T>G (p.Val566Gly) c.857T>G (p.Val286Gly) | dbSNP |
| 16 | g.1525983A>G | CA394227440 | IFT140 | c.2672T>C (p.Val891Ala) c.254T>C (p.Val85Ala) c.*1110T>C (n.*1110T>C) n.1901T>C n.387T>C c.305T>C (p.Val102Ala) c.2426T>C (p.Val809Ala) c.1697T>C (p.Val566Ala) c.857T>C (p.Val286Ala) | |
| 16 | g.1525983A>T | CA394227441 | IFT140 | c.2672T>A (p.Val891Glu) c.254T>A (p.Val85Glu) c.*1110T>A (n.*1110T>A) n.1901T>A n.387T>A c.305T>A (p.Val102Glu) c.2426T>A (p.Val809Glu) c.1697T>A (p.Val566Glu) c.857T>A (p.Val286Glu) | |
| 16 | g.1525984C>A | CA394227444 | IFT140 | c.2671G>T (p.Val891Leu) c.253G>T (p.Val85Leu) c.*1109G>T (n.*1109G>T) n.1900G>T n.386G>T c.304G>T (p.Val102Leu) c.2425G>T (p.Val809Leu) c.1696G>T (p.Val566Leu) c.856G>T (p.Val286Leu) | |
| 16 | g.1525984C= | CA2201699151 | IFT140 | c.2671G= (p.Val891=) c.253G= (p.Val85=) c.*1109G= (n.*1109G=) n.1900G= n.386G= c.304G= (p.Val102=) c.2425G= (p.Val809=) c.1696G= (p.Val566=) c.856G= (p.Val286=) | |
| 16 | g.1525984C>G | CA394227445 | IFT140 | c.2671G>C (p.Val891Leu) c.253G>C (p.Val85Leu) c.*1109G>C (n.*1109G>C) n.1900G>C n.386G>C c.304G>C (p.Val102Leu) c.2425G>C (p.Val809Leu) c.1696G>C (p.Val566Leu) c.856G>C (p.Val286Leu) | |
| 16 | g.1525984C>T | CA394227446 | IFT140 | c.2671G>A (p.Val891Ile) c.253G>A (p.Val85Ile) c.*1109G>A (n.*1109G>A) n.1900G>A n.386G>A c.304G>A (p.Val102Ile) c.2425G>A (p.Val809Ile) c.1696G>A (p.Val566Ile) c.856G>A (p.Val286Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1525985del | CA2573151760 | IFT140 | c.2671del (p.Val891Ter) c.253del (p.Val85Ter) c.*1109del (n.*1109del) n.1900del n.386del c.304del (p.Val102Ter) c.2425del (p.Val809Ter) c.1696del (p.Val566Ter) c.856del (p.Val286Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1525985C>A | CA394227448 | IFT140 | c.2670G>T (p.Gln890His) c.252G>T (p.Gln84His) c.*1108G>T (n.*1108G>T) n.1899G>T n.385G>T c.303G>T (p.Gln101His) c.2424G>T (p.Gln808His) c.1695G>T (p.Gln565His) c.855G>T (p.Gln285His) | gnomAD v4 |