| 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.1520637_1520653del | CA2631006416 | IFT140 | c.3610_3626del (p.Ser1204GlnfsTer?) c.1192_1208del (p.Ser398GlnfsTer?) c.*2048_*2064del (n.*2048_*2064del) n.3434_3450del c.1243_1259del (p.Ser415GlnfsTer?) c.3364_3380del (p.Ser1122GlnfsTer?) c.2635_2651del (p.Ser879GlnfsTer?) c.1795_1811del (p.Ser599GlnfsTer?) | gnomAD v4 |
| 16 | g.1520637T>A | CA394224763 | IFT140 | c.3625A>T (p.Thr1209Ser) c.1207A>T (p.Thr403Ser) c.*2063A>T (n.*2063A>T) n.3449A>T c.1258A>T (p.Thr420Ser) c.3379A>T (p.Thr1127Ser) c.2650A>T (p.Thr884Ser) c.1810A>T (p.Thr604Ser) | |
| 16 | g.1520637T>C | CA394224764 | IFT140 | c.3625A>G (p.Thr1209Ala) c.1207A>G (p.Thr403Ala) c.*2063A>G (n.*2063A>G) n.3449A>G c.1258A>G (p.Thr420Ala) c.3379A>G (p.Thr1127Ala) c.2650A>G (p.Thr884Ala) c.1810A>G (p.Thr604Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520637T>G | CA394224765 | IFT140 | c.3625A>C (p.Thr1209Pro) c.1207A>C (p.Thr403Pro) c.*2063A>C (n.*2063A>C) n.3449A>C c.1258A>C (p.Thr420Pro) c.3379A>C (p.Thr1127Pro) c.2650A>C (p.Thr884Pro) c.1810A>C (p.Thr604Pro) | dbSNP |
| 16 | g.1520637T= | CA2201723696 | IFT140 | c.3625A= (p.Thr1209=) c.1207A= (p.Thr403=) c.*2063A= (n.*2063A=) n.3449A= c.1258A= (p.Thr420=) c.3379A= (p.Thr1127=) c.2650A= (p.Thr884=) c.1810A= (p.Thr604=) | |
| 16 | g.1520638G>A | CA492931817 | IFT140 | c.3624C>T (p.Ala1208=) c.1206C>T (p.Ala402=) c.*2062C>T (n.*2062C>T) n.3448C>T c.1257C>T (p.Ala419=) c.3378C>T (p.Ala1126=) c.2649C>T (p.Ala883=) c.1809C>T (p.Ala603=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520638G>C | CA492931819 | IFT140 | c.3624C>G (p.Ala1208=) c.1206C>G (p.Ala402=) c.*2062C>G (n.*2062C>G) n.3448C>G c.1257C>G (p.Ala419=) c.3378C>G (p.Ala1126=) c.2649C>G (p.Ala883=) c.1809C>G (p.Ala603=) | |
| 16 | g.1520638G= | CA2201723697 | IFT140 | c.3624C= (p.Ala1208=) c.1206C= (p.Ala402=) c.*2062C= (n.*2062C=) n.3448C= c.1257C= (p.Ala419=) c.3378C= (p.Ala1126=) c.2649C= (p.Ala883=) c.1809C= (p.Ala603=) | |
| 16 | g.1520638G>T | CA492931818 | IFT140 | c.3624C>A (p.Ala1208=) c.1206C>A (p.Ala402=) c.*2062C>A (n.*2062C>A) n.3448C>A c.1257C>A (p.Ala419=) c.3378C>A (p.Ala1126=) c.2649C>A (p.Ala883=) c.1809C>A (p.Ala603=) | gnomAD v4 |
| 16 | g.1520639G>A | CA394224766 | IFT140 | c.3623C>T (p.Ala1208Val) c.1205C>T (p.Ala402Val) c.*2061C>T (n.*2061C>T) n.3447C>T c.1256C>T (p.Ala419Val) c.3377C>T (p.Ala1126Val) c.2648C>T (p.Ala883Val) c.1808C>T (p.Ala603Val) | gnomAD v4 |
| 16 | g.1520639G>C | CA394224767 | IFT140 | c.3623C>G (p.Ala1208Gly) c.1205C>G (p.Ala402Gly) c.*2061C>G (n.*2061C>G) n.3447C>G c.1256C>G (p.Ala419Gly) c.3377C>G (p.Ala1126Gly) c.2648C>G (p.Ala883Gly) c.1808C>G (p.Ala603Gly) | |
| 16 | g.1520639G>T | CA394224768 | IFT140 | c.3623C>A (p.Ala1208Asp) c.1205C>A (p.Ala402Asp) c.*2061C>A (n.*2061C>A) n.3447C>A c.1256C>A (p.Ala419Asp) c.3377C>A (p.Ala1126Asp) c.2648C>A (p.Ala883Asp) c.1808C>A (p.Ala603Asp) | gnomAD v4 |
| 16 | g.1520640C>A | CA394224769 | IFT140 | c.3622G>T (p.Ala1208Ser) c.1204G>T (p.Ala402Ser) c.*2060G>T (n.*2060G>T) n.3446G>T c.1255G>T (p.Ala419Ser) c.3376G>T (p.Ala1126Ser) c.2647G>T (p.Ala883Ser) c.1807G>T (p.Ala603Ser) | gnomAD v4 |
| 16 | g.1520640C>G | CA394224770 | IFT140 | c.3622G>C (p.Ala1208Pro) c.1204G>C (p.Ala402Pro) c.*2060G>C (n.*2060G>C) n.3446G>C c.1255G>C (p.Ala419Pro) c.3376G>C (p.Ala1126Pro) c.2647G>C (p.Ala883Pro) c.1807G>C (p.Ala603Pro) | |
| 16 | g.1520640C>T | CA394224771 | IFT140 | c.3622G>A (p.Ala1208Thr) c.1204G>A (p.Ala402Thr) c.*2060G>A (n.*2060G>A) n.3446G>A c.1255G>A (p.Ala419Thr) c.3376G>A (p.Ala1126Thr) c.2647G>A (p.Ala883Thr) c.1807G>A (p.Ala603Thr) | |
| 16 | g.1520641C>A | CA492931820 | IFT140 | c.3621G>T (p.Leu1207=) c.1203G>T (p.Leu401=) c.*2059G>T (n.*2059G>T) n.3445G>T c.1254G>T (p.Leu418=) c.3375G>T (p.Leu1125=) c.2646G>T (p.Leu882=) c.1806G>T (p.Leu602=) | gnomAD v4 |
| 16 | g.1520641C= | CA2201723698 | IFT140 | c.3621G= (p.Leu1207=) c.1203G= (p.Leu401=) c.*2059G= (n.*2059G=) n.3445G= c.1254G= (p.Leu418=) c.3375G= (p.Leu1125=) c.2646G= (p.Leu882=) c.1806G= (p.Leu602=) | |
| 16 | g.1520641C>G | CA492931821 | IFT140 | c.3621G>C (p.Leu1207=) c.1203G>C (p.Leu401=) c.*2059G>C (n.*2059G>C) n.3445G>C c.1254G>C (p.Leu418=) c.3375G>C (p.Leu1125=) c.2646G>C (p.Leu882=) c.1806G>C (p.Leu602=) | |
| 16 | g.1520641C>T | CA492931822 | IFT140 | c.3621G>A (p.Leu1207=) c.1203G>A (p.Leu401=) c.*2059G>A (n.*2059G>A) n.3445G>A c.1254G>A (p.Leu418=) c.3375G>A (p.Leu1125=) c.2646G>A (p.Leu882=) c.1806G>A (p.Leu602=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520642A= | CA2201723699 | IFT140 | c.3620T= (p.Leu1207=) c.1202T= (p.Leu401=) c.*2058T= (n.*2058T=) n.3444T= c.1253T= (p.Leu418=) c.3374T= (p.Leu1125=) c.2645T= (p.Leu882=) c.1805T= (p.Leu602=) | |
| 16 | g.1520642A>C | CA394224772 | IFT140 | c.3620T>G (p.Leu1207Arg) c.1202T>G (p.Leu401Arg) c.*2058T>G (n.*2058T>G) n.3444T>G c.1253T>G (p.Leu418Arg) c.3374T>G (p.Leu1125Arg) c.2645T>G (p.Leu882Arg) c.1805T>G (p.Leu602Arg) | |
| 16 | g.1520642A>G | CA394224773 | IFT140 | c.3620T>C (p.Leu1207Pro) c.1202T>C (p.Leu401Pro) c.*2058T>C (n.*2058T>C) n.3444T>C c.1253T>C (p.Leu418Pro) c.3374T>C (p.Leu1125Pro) c.2645T>C (p.Leu882Pro) c.1805T>C (p.Leu602Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520642A>T | CA394224774 | IFT140 | c.3620T>A (p.Leu1207Gln) c.1202T>A (p.Leu401Gln) c.*2058T>A (n.*2058T>A) n.3444T>A c.1253T>A (p.Leu418Gln) c.3374T>A (p.Leu1125Gln) c.2645T>A (p.Leu882Gln) c.1805T>A (p.Leu602Gln) | gnomAD v4 COSMIC |
| 16 | g.1520643G>A | CA492931826 | IFT140 | c.3619C>T (p.Leu1207=) c.1201C>T (p.Leu401=) c.*2057C>T (n.*2057C>T) n.3443C>T c.1252C>T (p.Leu418=) c.3373C>T (p.Leu1125=) c.2644C>T (p.Leu882=) c.1804C>T (p.Leu602=) | dbSNP |
| 16 | g.1520643G>C | CA394224775 | IFT140 | c.3619C>G (p.Leu1207Val) c.1201C>G (p.Leu401Val) c.*2057C>G (n.*2057C>G) n.3443C>G c.1252C>G (p.Leu418Val) c.3373C>G (p.Leu1125Val) c.2644C>G (p.Leu882Val) c.1804C>G (p.Leu602Val) | |
| 16 | g.1520643G= | CA2201723700 | IFT140 | c.3619C= (p.Leu1207=) c.1201C= (p.Leu401=) c.*2057C= (n.*2057C=) n.3443C= c.1252C= (p.Leu418=) c.3373C= (p.Leu1125=) c.2644C= (p.Leu882=) c.1804C= (p.Leu602=) | |
| 16 | g.1520643G>T | CA394224776 | IFT140 | c.3619C>A (p.Leu1207Met) c.1201C>A (p.Leu401Met) c.*2057C>A (n.*2057C>A) n.3443C>A c.1252C>A (p.Leu418Met) c.3373C>A (p.Leu1125Met) c.2644C>A (p.Leu882Met) c.1804C>A (p.Leu602Met) | |
| 16 | g.1520644G>A | CA7813096 | IFT140 | c.3618C>T (p.His1206=) c.1200C>T (p.His400=) c.*2056C>T (n.*2056C>T) n.3442C>T c.1251C>T (p.His417=) c.3372C>T (p.His1124=) c.2643C>T (p.His881=) c.1803C>T (p.His601=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520644G>C | CA394224777 | IFT140 | c.3618C>G (p.His1206Gln) c.1200C>G (p.His400Gln) c.*2056C>G (n.*2056C>G) n.3442C>G c.1251C>G (p.His417Gln) c.3372C>G (p.His1124Gln) c.2643C>G (p.His881Gln) c.1803C>G (p.His601Gln) | dbSNP gnomAD v4 |
| 16 | g.1520644G= | CA2201723701 | IFT140 | c.3618C= (p.His1206=) c.1200C= (p.His400=) c.*2056C= (n.*2056C=) n.3442C= c.1251C= (p.His417=) c.3372C= (p.His1124=) c.2643C= (p.His881=) c.1803C= (p.His601=) | |
| 16 | g.1520644G>T | CA276675880 | IFT140 | c.3618C>A (p.His1206Gln) c.1200C>A (p.His400Gln) c.*2056C>A (n.*2056C>A) n.3442C>A c.1251C>A (p.His417Gln) c.3372C>A (p.His1124Gln) c.2643C>A (p.His881Gln) c.1803C>A (p.His601Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520645T>A | CA394224778 | IFT140 | c.3617A>T (p.His1206Leu) c.1199A>T (p.His400Leu) c.*2055A>T (n.*2055A>T) n.3441A>T c.1250A>T (p.His417Leu) c.3371A>T (p.His1124Leu) c.2642A>T (p.His881Leu) c.1802A>T (p.His601Leu) | |
| 16 | g.1520645T>C | CA276675883 | IFT140 | c.3617A>G (p.His1206Arg) c.1199A>G (p.His400Arg) c.*2055A>G (n.*2055A>G) n.3441A>G c.1250A>G (p.His417Arg) c.3371A>G (p.His1124Arg) c.2642A>G (p.His881Arg) c.1802A>G (p.His601Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520645T>G | CA394224779 | IFT140 | c.3617A>C (p.His1206Pro) c.1199A>C (p.His400Pro) c.*2055A>C (n.*2055A>C) n.3441A>C c.1250A>C (p.His417Pro) c.3371A>C (p.His1124Pro) c.2642A>C (p.His881Pro) c.1802A>C (p.His601Pro) | |
| 16 | g.1520645T= | CA2201723702 | IFT140 | c.3617A= (p.His1206=) c.1199A= (p.His400=) c.*2055A= (n.*2055A=) n.3441A= c.1250A= (p.His417=) c.3371A= (p.His1124=) c.2642A= (p.His881=) c.1802A= (p.His601=) | |
| 16 | g.1520646G>A | CA394224780 | IFT140 | c.3616C>T (p.His1206Tyr) c.1198C>T (p.His400Tyr) c.*2054C>T (n.*2054C>T) n.3440C>T c.1249C>T (p.His417Tyr) c.3370C>T (p.His1124Tyr) c.2641C>T (p.His881Tyr) c.1801C>T (p.His601Tyr) | |
| 16 | g.1520646G>C | CA394224781 | IFT140 | c.3616C>G (p.His1206Asp) c.1198C>G (p.His400Asp) c.*2054C>G (n.*2054C>G) n.3440C>G c.1249C>G (p.His417Asp) c.3370C>G (p.His1124Asp) c.2641C>G (p.His881Asp) c.1801C>G (p.His601Asp) | |
| 16 | g.1520646G= | CA2201723703 | IFT140 | c.3616C= (p.His1206=) c.1198C= (p.His400=) c.*2054C= (n.*2054C=) n.3440C= c.1249C= (p.His417=) c.3370C= (p.His1124=) c.2641C= (p.His881=) c.1801C= (p.His601=) | |
| 16 | g.1520646G>T | CA276675886 | IFT140 | c.3616C>A (p.His1206Asn) c.1198C>A (p.His400Asn) c.*2054C>A (n.*2054C>A) n.3440C>A c.1249C>A (p.His417Asn) c.3370C>A (p.His1124Asn) c.2641C>A (p.His881Asn) c.1801C>A (p.His601Asn) | dbSNP gnomAD v4 |
| 16 | g.1520647G>A | CA492931827 | IFT140 | c.3615C>T (p.Tyr1205=) c.1197C>T (p.Tyr399=) c.*2053C>T (n.*2053C>T) n.3439C>T c.1248C>T (p.Tyr416=) c.3369C>T (p.Tyr1123=) c.2640C>T (p.Tyr880=) c.1800C>T (p.Tyr600=) | ClinVar gnomAD v4 |
| 16 | g.1520647G>C | CA394224782 | IFT140 | c.3615C>G (p.Tyr1205Ter) c.1197C>G (p.Tyr399Ter) c.*2053C>G (n.*2053C>G) n.3439C>G c.1248C>G (p.Tyr416Ter) c.3369C>G (p.Tyr1123Ter) c.2640C>G (p.Tyr880Ter) c.1800C>G (p.Tyr600Ter) | |
| 16 | g.1520647G>T | CA394224783 | IFT140 | c.3615C>A (p.Tyr1205Ter) c.1197C>A (p.Tyr399Ter) c.*2053C>A (n.*2053C>A) n.3439C>A c.1248C>A (p.Tyr416Ter) c.3369C>A (p.Tyr1123Ter) c.2640C>A (p.Tyr880Ter) c.1800C>A (p.Tyr600Ter) | |
| 16 | g.1520648T>A | CA394224784 | IFT140 | c.3614A>T (p.Tyr1205Phe) c.1196A>T (p.Tyr399Phe) c.*2052A>T (n.*2052A>T) n.3438A>T c.1247A>T (p.Tyr416Phe) c.3368A>T (p.Tyr1123Phe) c.2639A>T (p.Tyr880Phe) c.1799A>T (p.Tyr600Phe) | |
| 16 | g.1520648T>C | CA394224785 | IFT140 | c.3614A>G (p.Tyr1205Cys) c.1196A>G (p.Tyr399Cys) c.*2052A>G (n.*2052A>G) n.3438A>G c.1247A>G (p.Tyr416Cys) c.3368A>G (p.Tyr1123Cys) c.2639A>G (p.Tyr880Cys) c.1799A>G (p.Tyr600Cys) | |
| 16 | g.1520648T>G | CA394224786 | IFT140 | c.3614A>C (p.Tyr1205Ser) c.1196A>C (p.Tyr399Ser) c.*2052A>C (n.*2052A>C) n.3438A>C c.1247A>C (p.Tyr416Ser) c.3368A>C (p.Tyr1123Ser) c.2639A>C (p.Tyr880Ser) c.1799A>C (p.Tyr600Ser) | |
| 16 | g.1520649A>C | CA394224789 | IFT140 | c.3613T>G (p.Tyr1205Asp) c.1195T>G (p.Tyr399Asp) c.*2051T>G (n.*2051T>G) n.3437T>G c.1246T>G (p.Tyr416Asp) c.3367T>G (p.Tyr1123Asp) c.2638T>G (p.Tyr880Asp) c.1798T>G (p.Tyr600Asp) | dbSNP |
| 16 | g.1520649A>G | CA394224788 | IFT140 | c.3613T>C (p.Tyr1205His) c.1195T>C (p.Tyr399His) c.*2051T>C (n.*2051T>C) n.3437T>C c.1246T>C (p.Tyr416His) c.3367T>C (p.Tyr1123His) c.2638T>C (p.Tyr880His) c.1798T>C (p.Tyr600His) | |
| 16 | g.1520649A>T | CA394224787 | IFT140 | c.3613T>A (p.Tyr1205Asn) c.1195T>A (p.Tyr399Asn) c.*2051T>A (n.*2051T>A) n.3437T>A c.1246T>A (p.Tyr416Asn) c.3367T>A (p.Tyr1123Asn) c.2638T>A (p.Tyr880Asn) c.1798T>A (p.Tyr600Asn) |