| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1515634_1521302dup | CA2580613358 | IFT140 | c.3454-488_4182+2588dup c.1036-488_1764+2588dup c.*1892-488_*2620+2588dup n.3278-488_4006+2588dup c.1087-488_1815+2588dup c.3208-488_3936+2588dup c.2479-488_3207+2588dup c.1639-488_2367+2588dup | |
| 16 | g.1519144_1521811delinsG | CA658798459 | IFT140 | c.3454-1003_4040+737delinsC c.1036-1003_1622+737delinsC c.*1892-1003_*2478+737delinsC n.3278-1003_3864+737delinsC c.1087-1003_1673+737delinsC c.3208-1003_3794+737delinsC c.2479-1003_3065+737delinsC c.1639-1003_2225+737delinsC | ClinVar |
| 16 | g.1520161G>A | CA493031412 | IFT140 | c.3843C>T (p.Leu1281=) c.1425C>T (p.Leu475=) c.*2281C>T (n.*2281C>T) n.3667C>T c.1476C>T (p.Leu492=) c.3597C>T (p.Leu1199=) c.2868C>T (p.Leu956=) c.2028C>T (p.Leu676=) | dbSNP |
| 16 | g.1520161G>C | CA7813023 | IFT140 | c.3843C>G (p.Leu1281=) c.1425C>G (p.Leu475=) c.*2281C>G (n.*2281C>G) n.3667C>G c.1476C>G (p.Leu492=) c.3597C>G (p.Leu1199=) c.2868C>G (p.Leu956=) c.2028C>G (p.Leu676=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520161G= | CA2201723435 | IFT140 | c.3843C= (p.Leu1281=) c.1425C= (p.Leu475=) c.*2281C= (n.*2281C=) n.3667C= c.1476C= (p.Leu492=) c.3597C= (p.Leu1199=) c.2868C= (p.Leu956=) c.2028C= (p.Leu676=) | |
| 16 | g.1520161G>T | CA493031411 | IFT140 | c.3843C>A (p.Leu1281=) c.1425C>A (p.Leu475=) c.*2281C>A (n.*2281C>A) n.3667C>A c.1476C>A (p.Leu492=) c.3597C>A (p.Leu1199=) c.2868C>A (p.Leu956=) c.2028C>A (p.Leu676=) | |
| 16 | g.1520162A>C | CA394224286 | IFT140 | c.3842T>G (p.Leu1281Arg) c.1424T>G (p.Leu475Arg) c.*2280T>G (n.*2280T>G) n.3666T>G c.1475T>G (p.Leu492Arg) c.3596T>G (p.Leu1199Arg) c.2867T>G (p.Leu956Arg) c.2027T>G (p.Leu676Arg) | |
| 16 | g.1520162A>G | CA394224284 | IFT140 | c.3842T>C (p.Leu1281Pro) c.1424T>C (p.Leu475Pro) c.*2280T>C (n.*2280T>C) n.3666T>C c.1475T>C (p.Leu492Pro) c.3596T>C (p.Leu1199Pro) c.2867T>C (p.Leu956Pro) c.2027T>C (p.Leu676Pro) | |
| 16 | g.1520162A>T | CA394224285 | IFT140 | c.3842T>A (p.Leu1281His) c.1424T>A (p.Leu475His) c.*2280T>A (n.*2280T>A) n.3666T>A c.1475T>A (p.Leu492His) c.3596T>A (p.Leu1199His) c.2867T>A (p.Leu956His) c.2027T>A (p.Leu676His) | |
| 16 | g.1520163G>A | CA394224287 | IFT140 | c.3841C>T (p.Leu1281Phe) c.1423C>T (p.Leu475Phe) c.*2279C>T (n.*2279C>T) n.3665C>T c.1474C>T (p.Leu492Phe) c.3595C>T (p.Leu1199Phe) c.2866C>T (p.Leu956Phe) c.2026C>T (p.Leu676Phe) | gnomAD v4 |
| 16 | g.1520163G>C | CA394224288 | IFT140 | c.3841C>G (p.Leu1281Val) c.1423C>G (p.Leu475Val) c.*2279C>G (n.*2279C>G) n.3665C>G c.1474C>G (p.Leu492Val) c.3595C>G (p.Leu1199Val) c.2866C>G (p.Leu956Val) c.2026C>G (p.Leu676Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520163G= | CA2201723436 | IFT140 | c.3841C= (p.Leu1281=) c.1423C= (p.Leu475=) c.*2279C= (n.*2279C=) n.3665C= c.1474C= (p.Leu492=) c.3595C= (p.Leu1199=) c.2866C= (p.Leu956=) c.2026C= (p.Leu676=) | |
| 16 | g.1520163G>T | CA394224289 | IFT140 | c.3841C>A (p.Leu1281Ile) c.1423C>A (p.Leu475Ile) c.*2279C>A (n.*2279C>A) n.3665C>A c.1474C>A (p.Leu492Ile) c.3595C>A (p.Leu1199Ile) c.2866C>A (p.Leu956Ile) c.2026C>A (p.Leu676Ile) | |
| 16 | g.1520164G>A | CA493031418 | IFT140 | c.3840C>T (p.Asp1280=) c.1422C>T (p.Asp474=) c.*2278C>T (n.*2278C>T) n.3664C>T c.1473C>T (p.Asp491=) c.3594C>T (p.Asp1198=) c.2865C>T (p.Asp955=) c.2025C>T (p.Asp675=) | |
| 16 | g.1520164G>C | CA394224290 | IFT140 | c.3840C>G (p.Asp1280Glu) c.1422C>G (p.Asp474Glu) c.*2278C>G (n.*2278C>G) n.3664C>G c.1473C>G (p.Asp491Glu) c.3594C>G (p.Asp1198Glu) c.2865C>G (p.Asp955Glu) c.2025C>G (p.Asp675Glu) | |
| 16 | g.1520164G>T | CA394224291 | IFT140 | c.3840C>A (p.Asp1280Glu) c.1422C>A (p.Asp474Glu) c.*2278C>A (n.*2278C>A) n.3664C>A c.1473C>A (p.Asp491Glu) c.3594C>A (p.Asp1198Glu) c.2865C>A (p.Asp955Glu) c.2025C>A (p.Asp675Glu) | |
| 16 | g.1520165T>A | CA394224293 | IFT140 | c.3839A>T (p.Asp1280Val) c.1421A>T (p.Asp474Val) c.*2277A>T (n.*2277A>T) n.3663A>T c.1472A>T (p.Asp491Val) c.3593A>T (p.Asp1198Val) c.2864A>T (p.Asp955Val) c.2024A>T (p.Asp675Val) | gnomAD v4 |
| 16 | g.1520165T>C | CA7813024 | IFT140 | c.3839A>G (p.Asp1280Gly) c.1421A>G (p.Asp474Gly) c.*2277A>G (n.*2277A>G) n.3663A>G c.1472A>G (p.Asp491Gly) c.3593A>G (p.Asp1198Gly) c.2864A>G (p.Asp955Gly) c.2024A>G (p.Asp675Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.1520165T>G | CA394224292 | IFT140 | c.3839A>C (p.Asp1280Ala) c.1421A>C (p.Asp474Ala) c.*2277A>C (n.*2277A>C) n.3663A>C c.1472A>C (p.Asp491Ala) c.3593A>C (p.Asp1198Ala) c.2864A>C (p.Asp955Ala) c.2024A>C (p.Asp675Ala) | |
| 16 | g.1520165T= | CA2201723438 | IFT140 | c.3839A= (p.Asp1280=) c.1421A= (p.Asp474=) c.*2277A= (n.*2277A=) n.3663A= c.1472A= (p.Asp491=) c.3593A= (p.Asp1198=) c.2864A= (p.Asp955=) c.2024A= (p.Asp675=) | |
| 16 | g.1520165_1520166delinsTC | CA2201723437 | IFT140 | c.3838_3839delinsGA (p.Asp1280=) c.1420_1421delinsGA (p.Asp474=) c.*2276_*2277delinsGA (n.*2276_*2277delinsGA) n.3662_3663delinsGA c.1471_1472delinsGA (p.Asp491=) c.3592_3593delinsGA (p.Asp1198=) c.2863_2864delinsGA (p.Asp955=) c.2023_2024delinsGA (p.Asp675=) | |
| 16 | g.1520166C>A | CA394224294 | IFT140 | c.3838G>T (p.Asp1280Tyr) c.1420G>T (p.Asp474Tyr) c.*2276G>T (n.*2276G>T) n.3662G>T c.1471G>T (p.Asp491Tyr) c.3592G>T (p.Asp1198Tyr) c.2863G>T (p.Asp955Tyr) c.2023G>T (p.Asp675Tyr) | dbSNP |
| 16 | g.1520166C= | CA2201723439 | IFT140 | c.3838G= (p.Asp1280=) c.1420G= (p.Asp474=) c.*2276G= (n.*2276G=) n.3662G= c.1471G= (p.Asp491=) c.3592G= (p.Asp1198=) c.2863G= (p.Asp955=) c.2023G= (p.Asp675=) | |
| 16 | g.1520166C>G | CA394224295 | IFT140 | c.3838G>C (p.Asp1280His) c.1420G>C (p.Asp474His) c.*2276G>C (n.*2276G>C) n.3662G>C c.1471G>C (p.Asp491His) c.3592G>C (p.Asp1198His) c.2863G>C (p.Asp955His) c.2023G>C (p.Asp675His) | |
| 16 | g.1520166C>T | CA394224296 | IFT140 | c.3838G>A (p.Asp1280Asn) c.1420G>A (p.Asp474Asn) c.*2276G>A (n.*2276G>A) n.3662G>A c.1471G>A (p.Asp491Asn) c.3592G>A (p.Asp1198Asn) c.2863G>A (p.Asp955Asn) c.2023G>A (p.Asp675Asn) | gnomAD v4 |
| 16 | g.1520167del | CA7813025 | IFT140 | c.3838del (p.Asp1280ThrfsTer28) c.1420del (p.Asp474ThrfsTer28) c.*2276del (n.*2276del) n.3662del c.1471del (p.Asp491ThrfsTer28) c.3592del (p.Asp1198ThrfsTer28) c.2863del (p.Asp955ThrfsTer28) c.2023del (p.Asp675ThrfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520167C>A | CA493031434 | IFT140 | c.3837G>T (p.Leu1279=) c.1419G>T (p.Leu473=) c.*2275G>T (n.*2275G>T) n.3661G>T c.1470G>T (p.Leu490=) c.3591G>T (p.Leu1197=) c.2862G>T (p.Leu954=) c.2022G>T (p.Leu674=) | |
| 16 | g.1520167C>G | CA493031433 | IFT140 | c.3837G>C (p.Leu1279=) c.1419G>C (p.Leu473=) c.*2275G>C (n.*2275G>C) n.3661G>C c.1470G>C (p.Leu490=) c.3591G>C (p.Leu1197=) c.2862G>C (p.Leu954=) c.2022G>C (p.Leu674=) | |
| 16 | g.1520167C>T | CA493031435 | IFT140 | c.3837G>A (p.Leu1279=) c.1419G>A (p.Leu473=) c.*2275G>A (n.*2275G>A) n.3661G>A c.1470G>A (p.Leu490=) c.3591G>A (p.Leu1197=) c.2862G>A (p.Leu954=) c.2022G>A (p.Leu674=) | |
| 16 | g.1520168A>C | CA394224297 | IFT140 | c.3836T>G (p.Leu1279Arg) c.1418T>G (p.Leu473Arg) c.*2274T>G (n.*2274T>G) n.3660T>G c.1469T>G (p.Leu490Arg) c.3590T>G (p.Leu1197Arg) c.2861T>G (p.Leu954Arg) c.2021T>G (p.Leu674Arg) | |
| 16 | g.1520168A>G | CA394224298 | IFT140 | c.3836T>C (p.Leu1279Pro) c.1418T>C (p.Leu473Pro) c.*2274T>C (n.*2274T>C) n.3660T>C c.1469T>C (p.Leu490Pro) c.3590T>C (p.Leu1197Pro) c.2861T>C (p.Leu954Pro) c.2021T>C (p.Leu674Pro) | |
| 16 | g.1520168A>T | CA394224299 | IFT140 | c.3836T>A (p.Leu1279Gln) c.1418T>A (p.Leu473Gln) c.*2274T>A (n.*2274T>A) n.3660T>A c.1469T>A (p.Leu490Gln) c.3590T>A (p.Leu1197Gln) c.2861T>A (p.Leu954Gln) c.2021T>A (p.Leu674Gln) | |
| 16 | g.1520169G>A | CA493031440 | IFT140 | c.3835C>T (p.Leu1279=) c.1417C>T (p.Leu473=) c.*2273C>T (n.*2273C>T) n.3659C>T c.1468C>T (p.Leu490=) c.3589C>T (p.Leu1197=) c.2860C>T (p.Leu954=) c.2020C>T (p.Leu674=) | gnomAD v4 |
| 16 | g.1520169G>C | CA394224301 | IFT140 | c.3835C>G (p.Leu1279Val) c.1417C>G (p.Leu473Val) c.*2273C>G (n.*2273C>G) n.3659C>G c.1468C>G (p.Leu490Val) c.3589C>G (p.Leu1197Val) c.2860C>G (p.Leu954Val) c.2020C>G (p.Leu674Val) | |
| 16 | g.1520169G>T | CA394224300 | IFT140 | c.3835C>A (p.Leu1279Met) c.1417C>A (p.Leu473Met) c.*2273C>A (n.*2273C>A) n.3659C>A c.1468C>A (p.Leu490Met) c.3589C>A (p.Leu1197Met) c.2860C>A (p.Leu954Met) c.2020C>A (p.Leu674Met) | |
| 16 | g.1520170G>A | CA493031443 | IFT140 | c.3834C>T (p.Ala1278=) c.1416C>T (p.Ala472=) c.*2272C>T (n.*2272C>T) n.3658C>T c.1467C>T (p.Ala489=) c.3588C>T (p.Ala1196=) c.2859C>T (p.Ala953=) c.2019C>T (p.Ala673=) | dbSNP |
| 16 | g.1520170G>C | CA493031444 | IFT140 | c.3834C>G (p.Ala1278=) c.1416C>G (p.Ala472=) c.*2272C>G (n.*2272C>G) n.3658C>G c.1467C>G (p.Ala489=) c.3588C>G (p.Ala1196=) c.2859C>G (p.Ala953=) c.2019C>G (p.Ala673=) | |
| 16 | g.1520170G= | CA2201723440 | IFT140 | c.3834C= (p.Ala1278=) c.1416C= (p.Ala472=) c.*2272C= (n.*2272C=) n.3658C= c.1467C= (p.Ala489=) c.3588C= (p.Ala1196=) c.2859C= (p.Ala953=) c.2019C= (p.Ala673=) | |
| 16 | g.1520170G>T | CA493031445 | IFT140 | c.3834C>A (p.Ala1278=) c.1416C>A (p.Ala472=) c.*2272C>A (n.*2272C>A) n.3658C>A c.1467C>A (p.Ala489=) c.3588C>A (p.Ala1196=) c.2859C>A (p.Ala953=) c.2019C>A (p.Ala673=) | |
| 16 | g.1520171G>A | CA394224302 | IFT140 | c.3833C>T (p.Ala1278Val) c.1415C>T (p.Ala472Val) c.*2271C>T (n.*2271C>T) n.3657C>T c.1466C>T (p.Ala489Val) c.3587C>T (p.Ala1196Val) c.2858C>T (p.Ala953Val) c.2018C>T (p.Ala673Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520171G>C | CA394224303 | IFT140 | c.3833C>G (p.Ala1278Gly) c.1415C>G (p.Ala472Gly) c.*2271C>G (n.*2271C>G) n.3657C>G c.1466C>G (p.Ala489Gly) c.3587C>G (p.Ala1196Gly) c.2858C>G (p.Ala953Gly) c.2018C>G (p.Ala673Gly) | |
| 16 | g.1520171G= | CA2201723441 | IFT140 | c.3833C= (p.Ala1278=) c.1415C= (p.Ala472=) c.*2271C= (n.*2271C=) n.3657C= c.1466C= (p.Ala489=) c.3587C= (p.Ala1196=) c.2858C= (p.Ala953=) c.2018C= (p.Ala673=) | |
| 16 | g.1520171G>T | CA276675499 | IFT140 | c.3833C>A (p.Ala1278Asp) c.1415C>A (p.Ala472Asp) c.*2271C>A (n.*2271C>A) n.3657C>A c.1466C>A (p.Ala489Asp) c.3587C>A (p.Ala1196Asp) c.2858C>A (p.Ala953Asp) c.2018C>A (p.Ala673Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520172C>A | CA394224304 | IFT140 | c.3832G>T (p.Ala1278Ser) c.1414G>T (p.Ala472Ser) c.*2270G>T (n.*2270G>T) n.3656G>T c.1465G>T (p.Ala489Ser) c.3586G>T (p.Ala1196Ser) c.2857G>T (p.Ala953Ser) c.2017G>T (p.Ala673Ser) | |
| 16 | g.1520172C>G | CA394224305 | IFT140 | c.3832G>C (p.Ala1278Pro) c.1414G>C (p.Ala472Pro) c.*2270G>C (n.*2270G>C) n.3656G>C c.1465G>C (p.Ala489Pro) c.3586G>C (p.Ala1196Pro) c.2857G>C (p.Ala953Pro) c.2017G>C (p.Ala673Pro) | gnomAD v4 |
| 16 | g.1520172C>T | CA394224306 | IFT140 | c.3832G>A (p.Ala1278Thr) c.1414G>A (p.Ala472Thr) c.*2270G>A (n.*2270G>A) n.3656G>A c.1465G>A (p.Ala489Thr) c.3586G>A (p.Ala1196Thr) c.2857G>A (p.Ala953Thr) c.2017G>A (p.Ala673Thr) | gnomAD v4 |
| 16 | g.1520173C>A | CA493031453 | IFT140 | c.3831G>T (p.Arg1277=) c.1413G>T (p.Arg471=) c.*2269G>T (n.*2269G>T) n.3655G>T c.1464G>T (p.Arg488=) c.3585G>T (p.Arg1195=) c.2856G>T (p.Arg952=) c.2016G>T (p.Arg672=) | |
| 16 | g.1520173C>G | CA493031451 | IFT140 | c.3831G>C (p.Arg1277=) c.1413G>C (p.Arg471=) c.*2269G>C (n.*2269G>C) n.3655G>C c.1464G>C (p.Arg488=) c.3585G>C (p.Arg1195=) c.2856G>C (p.Arg952=) c.2016G>C (p.Arg672=) | |
| 16 | g.1520173C>T | CA493031452 | IFT140 | c.3831G>A (p.Arg1277=) c.1413G>A (p.Arg471=) c.*2269G>A (n.*2269G>A) n.3655G>A c.1464G>A (p.Arg488=) c.3585G>A (p.Arg1195=) c.2856G>A (p.Arg952=) c.2016G>A (p.Arg672=) | |
| 16 | g.1520174C>A | CA394224307 | IFT140 | c.3830G>T (p.Arg1277Leu) c.1412G>T (p.Arg471Leu) c.*2268G>T (n.*2268G>T) n.3654G>T c.1463G>T (p.Arg488Leu) c.3584G>T (p.Arg1195Leu) c.2855G>T (p.Arg952Leu) c.2015G>T (p.Arg672Leu) |