| 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.1520261_1520263del | CA620700982 | IFT140 | c.3744_3746del (p.Ile1248del) c.1326_1328del (p.Ile442del) c.*2182_*2184del (n.*2182_*2184del) n.3568_3570del c.1377_1379del (p.Ile459del) c.3498_3500del (p.Ile1166del) c.2769_2771del (p.Ile923del) c.1929_1931del (p.Ile643del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520261A= | CA2201723484 | IFT140 | c.3743T= (p.Ile1248=) c.1325T= (p.Ile442=) c.*2181T= (n.*2181T=) n.3567T= c.1376T= (p.Ile459=) c.3497T= (p.Ile1166=) c.2768T= (p.Ile923=) c.1928T= (p.Ile643=) | |
| 16 | g.1520261A>C | CA394224500 | IFT140 | c.3743T>G (p.Ile1248Ser) c.1325T>G (p.Ile442Ser) c.*2181T>G (n.*2181T>G) n.3567T>G c.1376T>G (p.Ile459Ser) c.3497T>G (p.Ile1166Ser) c.2768T>G (p.Ile923Ser) c.1928T>G (p.Ile643Ser) | |
| 16 | g.1520261A>G | CA7813042 | IFT140 | c.3743T>C (p.Ile1248Thr) c.1325T>C (p.Ile442Thr) c.*2181T>C (n.*2181T>C) n.3567T>C c.1376T>C (p.Ile459Thr) c.3497T>C (p.Ile1166Thr) c.2768T>C (p.Ile923Thr) c.1928T>C (p.Ile643Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520261A>T | CA394224501 | IFT140 | c.3743T>A (p.Ile1248Asn) c.1325T>A (p.Ile442Asn) c.*2181T>A (n.*2181T>A) n.3567T>A c.1376T>A (p.Ile459Asn) c.3497T>A (p.Ile1166Asn) c.2768T>A (p.Ile923Asn) c.1928T>A (p.Ile643Asn) | |
| 16 | g.1520262T>A | CA394224504 | IFT140 | c.3742A>T (p.Ile1248Phe) c.1324A>T (p.Ile442Phe) c.*2180A>T (n.*2180A>T) n.3566A>T c.1375A>T (p.Ile459Phe) c.3496A>T (p.Ile1166Phe) c.2767A>T (p.Ile923Phe) c.1927A>T (p.Ile643Phe) | |
| 16 | g.1520262T>C | CA394224502 | IFT140 | c.3742A>G (p.Ile1248Val) c.1324A>G (p.Ile442Val) c.*2180A>G (n.*2180A>G) n.3566A>G c.1375A>G (p.Ile459Val) c.3496A>G (p.Ile1166Val) c.2767A>G (p.Ile923Val) c.1927A>G (p.Ile643Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520262T>G | CA394224503 | IFT140 | c.3742A>C (p.Ile1248Leu) c.1324A>C (p.Ile442Leu) c.*2180A>C (n.*2180A>C) n.3566A>C c.1375A>C (p.Ile459Leu) c.3496A>C (p.Ile1166Leu) c.2767A>C (p.Ile923Leu) c.1927A>C (p.Ile643Leu) | gnomAD v4 |
| 16 | g.1520262T= | CA2201723485 | IFT140 | c.3742A= (p.Ile1248=) c.1324A= (p.Ile442=) c.*2180A= (n.*2180A=) n.3566A= c.1375A= (p.Ile459=) c.3496A= (p.Ile1166=) c.2767A= (p.Ile923=) c.1927A= (p.Ile643=) | |
| 16 | g.1520263G>A | CA493031760 | IFT140 | c.3741C>T (p.Tyr1247=) c.1323C>T (p.Tyr441=) c.*2179C>T (n.*2179C>T) n.3565C>T c.1374C>T (p.Tyr458=) c.3495C>T (p.Tyr1165=) c.2766C>T (p.Tyr922=) c.1926C>T (p.Tyr642=) | gnomAD v4 |
| 16 | g.1520263G>C | CA394224505 | IFT140 | c.3741C>G (p.Tyr1247Ter) c.1323C>G (p.Tyr441Ter) c.*2179C>G (n.*2179C>G) n.3565C>G c.1374C>G (p.Tyr458Ter) c.3495C>G (p.Tyr1165Ter) c.2766C>G (p.Tyr922Ter) c.1926C>G (p.Tyr642Ter) | |
| 16 | g.1520263G>T | CA394224506 | IFT140 | c.3741C>A (p.Tyr1247Ter) c.1323C>A (p.Tyr441Ter) c.*2179C>A (n.*2179C>A) n.3565C>A c.1374C>A (p.Tyr458Ter) c.3495C>A (p.Tyr1165Ter) c.2766C>A (p.Tyr922Ter) c.1926C>A (p.Tyr642Ter) | |
| 16 | g.1520264T>A | CA394224507 | IFT140 | c.3740A>T (p.Tyr1247Phe) c.1322A>T (p.Tyr441Phe) c.*2178A>T (n.*2178A>T) n.3564A>T c.1373A>T (p.Tyr458Phe) c.3494A>T (p.Tyr1165Phe) c.2765A>T (p.Tyr922Phe) c.1925A>T (p.Tyr642Phe) | |
| 16 | g.1520264T>C | CA394224508 | IFT140 | c.3740A>G (p.Tyr1247Cys) c.1322A>G (p.Tyr441Cys) c.*2178A>G (n.*2178A>G) n.3564A>G c.1373A>G (p.Tyr458Cys) c.3494A>G (p.Tyr1165Cys) c.2765A>G (p.Tyr922Cys) c.1925A>G (p.Tyr642Cys) | |
| 16 | g.1520264T>G | CA394224509 | IFT140 | c.3740A>C (p.Tyr1247Ser) c.1322A>C (p.Tyr441Ser) c.*2178A>C (n.*2178A>C) n.3564A>C c.1373A>C (p.Tyr458Ser) c.3494A>C (p.Tyr1165Ser) c.2765A>C (p.Tyr922Ser) c.1925A>C (p.Tyr642Ser) | |
| 16 | g.1520265A>C | CA394224510 | IFT140 | c.3739T>G (p.Tyr1247Asp) c.1321T>G (p.Tyr441Asp) c.*2177T>G (n.*2177T>G) n.3563T>G c.1372T>G (p.Tyr458Asp) c.3493T>G (p.Tyr1165Asp) c.2764T>G (p.Tyr922Asp) c.1924T>G (p.Tyr642Asp) | |
| 16 | g.1520265A>G | CA394224512 | IFT140 | c.3739T>C (p.Tyr1247His) c.1321T>C (p.Tyr441His) c.*2177T>C (n.*2177T>C) n.3563T>C c.1372T>C (p.Tyr458His) c.3493T>C (p.Tyr1165His) c.2764T>C (p.Tyr922His) c.1924T>C (p.Tyr642His) | ClinVar |
| 16 | g.1520265A>T | CA394224511 | IFT140 | c.3739T>A (p.Tyr1247Asn) c.1321T>A (p.Tyr441Asn) c.*2177T>A (n.*2177T>A) n.3563T>A c.1372T>A (p.Tyr458Asn) c.3493T>A (p.Tyr1165Asn) c.2764T>A (p.Tyr922Asn) c.1924T>A (p.Tyr642Asn) | |
| 16 | g.1520266G>A | CA493031764 | IFT140 | c.3738C>T (p.Ile1246=) c.1320C>T (p.Ile440=) c.*2176C>T (n.*2176C>T) n.3562C>T c.1371C>T (p.Ile457=) c.3492C>T (p.Ile1164=) c.2763C>T (p.Ile921=) c.1923C>T (p.Ile641=) | |
| 16 | g.1520266G>C | CA394224513 | IFT140 | c.3738C>G (p.Ile1246Met) c.1320C>G (p.Ile440Met) c.*2176C>G (n.*2176C>G) n.3562C>G c.1371C>G (p.Ile457Met) c.3492C>G (p.Ile1164Met) c.2763C>G (p.Ile921Met) c.1923C>G (p.Ile641Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520266G= | CA2201723486 | IFT140 | c.3738C= (p.Ile1246=) c.1320C= (p.Ile440=) c.*2176C= (n.*2176C=) n.3562C= c.1371C= (p.Ile457=) c.3492C= (p.Ile1164=) c.2763C= (p.Ile921=) c.1923C= (p.Ile641=) | |
| 16 | g.1520266G>T | CA493031766 | IFT140 | c.3738C>A (p.Ile1246=) c.1320C>A (p.Ile440=) c.*2176C>A (n.*2176C>A) n.3562C>A c.1371C>A (p.Ile457=) c.3492C>A (p.Ile1164=) c.2763C>A (p.Ile921=) c.1923C>A (p.Ile641=) | |
| 16 | g.1520267A= | CA2201723487 | IFT140 | c.3737T= (p.Ile1246=) c.1319T= (p.Ile440=) c.*2175T= (n.*2175T=) n.3561T= c.1370T= (p.Ile457=) c.3491T= (p.Ile1164=) c.2762T= (p.Ile921=) c.1922T= (p.Ile641=) | |
| 16 | g.1520267A>C | CA394224514 | IFT140 | c.3737T>G (p.Ile1246Ser) c.1319T>G (p.Ile440Ser) c.*2175T>G (n.*2175T>G) n.3561T>G c.1370T>G (p.Ile457Ser) c.3491T>G (p.Ile1164Ser) c.2762T>G (p.Ile921Ser) c.1922T>G (p.Ile641Ser) | dbSNP |
| 16 | g.1520267A>G | CA394224515 | IFT140 | c.3737T>C (p.Ile1246Thr) c.1319T>C (p.Ile440Thr) c.*2175T>C (n.*2175T>C) n.3561T>C c.1370T>C (p.Ile457Thr) c.3491T>C (p.Ile1164Thr) c.2762T>C (p.Ile921Thr) c.1922T>C (p.Ile641Thr) | |
| 16 | g.1520267A>T | CA394224516 | IFT140 | c.3737T>A (p.Ile1246Asn) c.1319T>A (p.Ile440Asn) c.*2175T>A (n.*2175T>A) n.3561T>A c.1370T>A (p.Ile457Asn) c.3491T>A (p.Ile1164Asn) c.2762T>A (p.Ile921Asn) c.1922T>A (p.Ile641Asn) | |
| 16 | g.1520268T>A | CA394224517 | IFT140 | c.3736A>T (p.Ile1246Phe) c.1318A>T (p.Ile440Phe) c.*2174A>T (n.*2174A>T) n.3560A>T c.1369A>T (p.Ile457Phe) c.3490A>T (p.Ile1164Phe) c.2761A>T (p.Ile921Phe) c.1921A>T (p.Ile641Phe) | |
| 16 | g.1520268T>C | CA7813043 | IFT140 | c.3736A>G (p.Ile1246Val) c.1318A>G (p.Ile440Val) c.*2174A>G (n.*2174A>G) n.3560A>G c.1369A>G (p.Ile457Val) c.3490A>G (p.Ile1164Val) c.2761A>G (p.Ile921Val) c.1921A>G (p.Ile641Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520268T>G | CA394224518 | IFT140 | c.3736A>C (p.Ile1246Leu) c.1318A>C (p.Ile440Leu) c.*2174A>C (n.*2174A>C) n.3560A>C c.1369A>C (p.Ile457Leu) c.3490A>C (p.Ile1164Leu) c.2761A>C (p.Ile921Leu) c.1921A>C (p.Ile641Leu) | |
| 16 | g.1520268T= | CA2201723488 | IFT140 | c.3736A= (p.Ile1246=) c.1318A= (p.Ile440=) c.*2174A= (n.*2174A=) n.3560A= c.1369A= (p.Ile457=) c.3490A= (p.Ile1164=) c.2761A= (p.Ile921=) c.1921A= (p.Ile641=) | |
| 16 | g.1520270dup | CA2631005706 | IFT140 | c.3736dup (p.Ile1246AsnfsTer7) c.1318dup (p.Ile440AsnfsTer7) c.*2174dup (n.*2174dup) n.3560dup c.1369dup (p.Ile457AsnfsTer7) c.3490dup (p.Ile1164AsnfsTer7) c.2761dup (p.Ile921AsnfsTer7) c.1921dup (p.Ile641AsnfsTer7) | gnomAD v4 |
| 16 | g.1520269_1520270del | CA973722874 | IFT140 | c.3735_3736del (p.Glu1245AspfsTer7) c.1317_1318del (p.Glu439AspfsTer7) c.*2173_*2174del (n.*2173_*2174del) n.3559_3560del c.1368_1369del (p.Glu456AspfsTer7) c.3489_3490del (p.Glu1163AspfsTer7) c.2760_2761del (p.Glu920AspfsTer7) c.1920_1921del (p.Glu640AspfsTer7) | gnomAD v3 gnomAD v4 |
| 16 | g.1520269T>A | CA394224519 | IFT140 | c.3735A>T (p.Glu1245Asp) c.1317A>T (p.Glu439Asp) c.*2173A>T (n.*2173A>T) n.3559A>T c.1368A>T (p.Glu456Asp) c.3489A>T (p.Glu1163Asp) c.2760A>T (p.Glu920Asp) c.1920A>T (p.Glu640Asp) | |
| 16 | g.1520269T>C | CA493031772 | IFT140 | c.3735A>G (p.Glu1245=) c.1317A>G (p.Glu439=) c.*2173A>G (n.*2173A>G) n.3559A>G c.1368A>G (p.Glu456=) c.3489A>G (p.Glu1163=) c.2760A>G (p.Glu920=) c.1920A>G (p.Glu640=) | |
| 16 | g.1520269T>G | CA394224520 | IFT140 | c.3735A>C (p.Glu1245Asp) c.1317A>C (p.Glu439Asp) c.*2173A>C (n.*2173A>C) n.3559A>C c.1368A>C (p.Glu456Asp) c.3489A>C (p.Glu1163Asp) c.2760A>C (p.Glu920Asp) c.1920A>C (p.Glu640Asp) | |
| 16 | g.1520270T>A | CA394224521 | IFT140 | c.3734A>T (p.Glu1245Val) c.1316A>T (p.Glu439Val) c.*2172A>T (n.*2172A>T) n.3558A>T c.1367A>T (p.Glu456Val) c.3488A>T (p.Glu1163Val) c.2759A>T (p.Glu920Val) c.1919A>T (p.Glu640Val) | |
| 16 | g.1520270T>C | CA394224522 | IFT140 | c.3734A>G (p.Glu1245Gly) c.1316A>G (p.Glu439Gly) c.*2172A>G (n.*2172A>G) n.3558A>G c.1367A>G (p.Glu456Gly) c.3488A>G (p.Glu1163Gly) c.2759A>G (p.Glu920Gly) c.1919A>G (p.Glu640Gly) | |
| 16 | g.1520270T>G | CA394224523 | IFT140 | c.3734A>C (p.Glu1245Ala) c.1316A>C (p.Glu439Ala) c.*2172A>C (n.*2172A>C) n.3558A>C c.1367A>C (p.Glu456Ala) c.3488A>C (p.Glu1163Ala) c.2759A>C (p.Glu920Ala) c.1919A>C (p.Glu640Ala) | |
| 16 | g.1520271C>A | CA394224525 | IFT140 | c.3733G>T (p.Glu1245Ter) c.1315G>T (p.Glu439Ter) c.*2171G>T (n.*2171G>T) n.3557G>T c.1366G>T (p.Glu456Ter) c.3487G>T (p.Glu1163Ter) c.2758G>T (p.Glu920Ter) c.1918G>T (p.Glu640Ter) | |
| 16 | g.1520271C>G | CA394224526 | IFT140 | c.3733G>C (p.Glu1245Gln) c.1315G>C (p.Glu439Gln) c.*2171G>C (n.*2171G>C) n.3557G>C c.1366G>C (p.Glu456Gln) c.3487G>C (p.Glu1163Gln) c.2758G>C (p.Glu920Gln) c.1918G>C (p.Glu640Gln) | |
| 16 | g.1520271C>T | CA394224524 | IFT140 | c.3733G>A (p.Glu1245Lys) c.1315G>A (p.Glu439Lys) c.*2171G>A (n.*2171G>A) n.3557G>A c.1366G>A (p.Glu456Lys) c.3487G>A (p.Glu1163Lys) c.2758G>A (p.Glu920Lys) c.1918G>A (p.Glu640Lys) | |
| 16 | g.1520272C>A | CA394224527 | IFT140 | c.3732G>T (p.Lys1244Asn) c.1314G>T (p.Lys438Asn) c.*2170G>T (n.*2170G>T) n.3556G>T c.1365G>T (p.Lys455Asn) c.3486G>T (p.Lys1162Asn) c.2757G>T (p.Lys919Asn) c.1917G>T (p.Lys639Asn) | |
| 16 | g.1520272C>G | CA394224528 | IFT140 | c.3732G>C (p.Lys1244Asn) c.1314G>C (p.Lys438Asn) c.*2170G>C (n.*2170G>C) n.3556G>C c.1365G>C (p.Lys455Asn) c.3486G>C (p.Lys1162Asn) c.2757G>C (p.Lys919Asn) c.1917G>C (p.Lys639Asn) | |
| 16 | g.1520272C>T | CA493031780 | IFT140 | c.3732G>A (p.Lys1244=) c.1314G>A (p.Lys438=) c.*2170G>A (n.*2170G>A) n.3556G>A c.1365G>A (p.Lys455=) c.3486G>A (p.Lys1162=) c.2757G>A (p.Lys919=) c.1917G>A (p.Lys639=) | |
| 16 | g.1520272_1520273del | CA973722876 | IFT140 | c.3731_3732del (p.Lys1244ArgfsTer8) c.1313_1314del (p.Lys438ArgfsTer8) c.*2169_*2170del (n.*2169_*2170del) n.3555_3556del c.1364_1365del (p.Lys455ArgfsTer8) c.3485_3486del (p.Lys1162ArgfsTer8) c.2756_2757del (p.Lys919ArgfsTer8) c.1916_1917del (p.Lys639ArgfsTer8) | gnomAD v3 gnomAD v4 |
| 16 | g.1520273T>A | CA394224529 | IFT140 | c.3731A>T (p.Lys1244Met) c.1313A>T (p.Lys438Met) c.*2169A>T (n.*2169A>T) n.3555A>T c.1364A>T (p.Lys455Met) c.3485A>T (p.Lys1162Met) c.2756A>T (p.Lys919Met) c.1916A>T (p.Lys639Met) | |
| 16 | g.1520273T>C | CA394224530 | IFT140 | c.3731A>G (p.Lys1244Arg) c.1313A>G (p.Lys438Arg) c.*2169A>G (n.*2169A>G) n.3555A>G c.1364A>G (p.Lys455Arg) c.3485A>G (p.Lys1162Arg) c.2756A>G (p.Lys919Arg) c.1916A>G (p.Lys639Arg) | |
| 16 | g.1520273T>G | CA394224531 | IFT140 | c.3731A>C (p.Lys1244Thr) c.1313A>C (p.Lys438Thr) c.*2169A>C (n.*2169A>C) n.3555A>C c.1364A>C (p.Lys455Thr) c.3485A>C (p.Lys1162Thr) c.2756A>C (p.Lys919Thr) c.1916A>C (p.Lys639Thr) |