| 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.1520727_1520742delinsCCTTGGCCACGGTCAT | CA2201723745 | IFT140 | c.3520_3535delinsATGACCGTGGCCAAGG (p.Met1174=) c.1102_1117delinsATGACCGTGGCCAAGG (p.Met368=) c.*1958_*1973delinsATGACCGTGGCCAAGG (n.*1958_*1973delinsATGACCGTGGCCAAGG) n.3344_3359delinsATGACCGTGGCCAAGG c.1153_1168delinsATGACCGTGGCCAAGG (p.Met385=) c.3274_3289delinsATGACCGTGGCCAAGG (p.Met1092=) c.2545_2560delinsATGACCGTGGCCAAGG (p.Met849=) c.1705_1720delinsATGACCGTGGCCAAGG (p.Met569=) | |
| 16 | g.1520731_1520745del | CA276675966 | IFT140 | c.3520_3534del (p.Met1174_Lys1178del) c.1102_1116del (p.Met368_Lys372del) c.*1958_*1972del (n.*1958_*1972del) n.3344_3358del c.1153_1167del (p.Met385_Lys389del) c.3274_3288del (p.Met1092_Lys1096del) c.2545_2559del (p.Met849_Lys853del) c.1705_1719del (p.Met569_Lys573del) | dbSNP |
| 16 | g.1520737G>A | CA492931918 | IFT140 | c.3525C>T (p.Thr1175=) c.1107C>T (p.Thr369=) c.*1963C>T (n.*1963C>T) n.3349C>T c.1158C>T (p.Thr386=) c.3279C>T (p.Thr1093=) c.2550C>T (p.Thr850=) c.1710C>T (p.Thr570=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520737G>C | CA7813127 | IFT140 | c.3525C>G (p.Thr1175=) c.1107C>G (p.Thr369=) c.*1963C>G (n.*1963C>G) n.3349C>G c.1158C>G (p.Thr386=) c.3279C>G (p.Thr1093=) c.2550C>G (p.Thr850=) c.1710C>G (p.Thr570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520737G= | CA2201723749 | IFT140 | c.3525C= (p.Thr1175=) c.1107C= (p.Thr369=) c.*1963C= (n.*1963C=) n.3349C= c.1158C= (p.Thr386=) c.3279C= (p.Thr1093=) c.2550C= (p.Thr850=) c.1710C= (p.Thr570=) | |
| 16 | g.1520737G>T | CA492931919 | IFT140 | c.3525C>A (p.Thr1175=) c.1107C>A (p.Thr369=) c.*1963C>A (n.*1963C>A) n.3349C>A c.1158C>A (p.Thr386=) c.3279C>A (p.Thr1093=) c.2550C>A (p.Thr850=) c.1710C>A (p.Thr570=) | |
| 16 | g.1520738G>A | CA394224963 | IFT140 | c.3524C>T (p.Thr1175Ile) c.1106C>T (p.Thr369Ile) c.*1962C>T (n.*1962C>T) n.3348C>T c.1157C>T (p.Thr386Ile) c.3278C>T (p.Thr1093Ile) c.2549C>T (p.Thr850Ile) c.1709C>T (p.Thr570Ile) | COSMIC |
| 16 | g.1520738G>C | CA394224964 | IFT140 | c.3524C>G (p.Thr1175Ser) c.1106C>G (p.Thr369Ser) c.*1962C>G (n.*1962C>G) n.3348C>G c.1157C>G (p.Thr386Ser) c.3278C>G (p.Thr1093Ser) c.2549C>G (p.Thr850Ser) c.1709C>G (p.Thr570Ser) | |
| 16 | g.1520738G>T | CA394224965 | IFT140 | c.3524C>A (p.Thr1175Asn) c.1106C>A (p.Thr369Asn) c.*1962C>A (n.*1962C>A) n.3348C>A c.1157C>A (p.Thr386Asn) c.3278C>A (p.Thr1093Asn) c.2549C>A (p.Thr850Asn) c.1709C>A (p.Thr570Asn) | gnomAD v4 |
| 16 | g.1520739T>A | CA394224966 | IFT140 | c.3523A>T (p.Thr1175Ser) c.1105A>T (p.Thr369Ser) c.*1961A>T (n.*1961A>T) n.3347A>T c.1156A>T (p.Thr386Ser) c.3277A>T (p.Thr1093Ser) c.2548A>T (p.Thr850Ser) c.1708A>T (p.Thr570Ser) | |
| 16 | g.1520739T>C | CA394224967 | IFT140 | c.3523A>G (p.Thr1175Ala) c.1105A>G (p.Thr369Ala) c.*1961A>G (n.*1961A>G) n.3347A>G c.1156A>G (p.Thr386Ala) c.3277A>G (p.Thr1093Ala) c.2548A>G (p.Thr850Ala) c.1708A>G (p.Thr570Ala) | |
| 16 | g.1520739T>G | CA394224968 | IFT140 | c.3523A>C (p.Thr1175Pro) c.1105A>C (p.Thr369Pro) c.*1961A>C (n.*1961A>C) n.3347A>C c.1156A>C (p.Thr386Pro) c.3277A>C (p.Thr1093Pro) c.2548A>C (p.Thr850Pro) c.1708A>C (p.Thr570Pro) | |
| 16 | g.1520740C>A | CA394224969 | IFT140 | c.3522G>T (p.Met1174Ile) c.1104G>T (p.Met368Ile) c.*1960G>T (n.*1960G>T) n.3346G>T c.1155G>T (p.Met385Ile) c.3276G>T (p.Met1092Ile) c.2547G>T (p.Met849Ile) c.1707G>T (p.Met569Ile) | gnomAD v4 |
| 16 | g.1520740C>G | CA394224970 | IFT140 | c.3522G>C (p.Met1174Ile) c.1104G>C (p.Met368Ile) c.*1960G>C (n.*1960G>C) n.3346G>C c.1155G>C (p.Met385Ile) c.3276G>C (p.Met1092Ile) c.2547G>C (p.Met849Ile) c.1707G>C (p.Met569Ile) | |
| 16 | g.1520740C>T | CA394224971 | IFT140 | c.3522G>A (p.Met1174Ile) c.1104G>A (p.Met368Ile) c.*1960G>A (n.*1960G>A) n.3346G>A c.1155G>A (p.Met385Ile) c.3276G>A (p.Met1092Ile) c.2547G>A (p.Met849Ile) c.1707G>A (p.Met569Ile) | |
| 16 | g.1520740_1520741delinsCA | CA2201723750 | IFT140 | c.3521_3522delinsTG (p.Met1174=) c.1103_1104delinsTG (p.Met368=) c.*1959_*1960delinsTG (n.*1959_*1960delinsTG) n.3345_3346delinsTG c.1154_1155delinsTG (p.Met385=) c.3275_3276delinsTG (p.Met1092=) c.2546_2547delinsTG (p.Met849=) c.1706_1707delinsTG (p.Met569=) | |
| 16 | g.1520741del | CA620701196 | IFT140 | c.3521del (p.Met1174ArgfsTer22) c.1103del (p.Met368ArgfsTer22) c.*1959del (n.*1959del) n.3345del c.1154del (p.Met385ArgfsTer22) c.3275del (p.Met1092ArgfsTer22) c.2546del (p.Met849ArgfsTer22) c.1706del (p.Met569ArgfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520741A= | CA2201723751 | IFT140 | c.3521T= (p.Met1174=) c.1103T= (p.Met368=) c.*1959T= (n.*1959T=) n.3345T= c.1154T= (p.Met385=) c.3275T= (p.Met1092=) c.2546T= (p.Met849=) c.1706T= (p.Met569=) | |
| 16 | g.1520741A>C | CA394224973 | IFT140 | c.3521T>G (p.Met1174Arg) c.1103T>G (p.Met368Arg) c.*1959T>G (n.*1959T>G) n.3345T>G c.1154T>G (p.Met385Arg) c.3275T>G (p.Met1092Arg) c.2546T>G (p.Met849Arg) c.1706T>G (p.Met569Arg) | |
| 16 | g.1520741A>G | CA394224972 | IFT140 | c.3521T>C (p.Met1174Thr) c.1103T>C (p.Met368Thr) c.*1959T>C (n.*1959T>C) n.3345T>C c.1154T>C (p.Met385Thr) c.3275T>C (p.Met1092Thr) c.2546T>C (p.Met849Thr) c.1706T>C (p.Met569Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520741A>T | CA7813128 | IFT140 | c.3521T>A (p.Met1174Lys) c.1103T>A (p.Met368Lys) c.*1959T>A (n.*1959T>A) n.3345T>A c.1154T>A (p.Met385Lys) c.3275T>A (p.Met1092Lys) c.2546T>A (p.Met849Lys) c.1706T>A (p.Met569Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520742T>A | CA394224974 | IFT140 | c.3520A>T (p.Met1174Leu) c.1102A>T (p.Met368Leu) c.*1958A>T (n.*1958A>T) n.3344A>T c.1153A>T (p.Met385Leu) c.3274A>T (p.Met1092Leu) c.2545A>T (p.Met849Leu) c.1705A>T (p.Met569Leu) | |
| 16 | g.1520742T>C | CA394224975 | IFT140 | c.3520A>G (p.Met1174Val) c.1102A>G (p.Met368Val) c.*1958A>G (n.*1958A>G) n.3344A>G c.1153A>G (p.Met385Val) c.3274A>G (p.Met1092Val) c.2545A>G (p.Met849Val) c.1705A>G (p.Met569Val) | |
| 16 | g.1520742T>G | CA394224976 | IFT140 | c.3520A>C (p.Met1174Leu) c.1102A>C (p.Met368Leu) c.*1958A>C (n.*1958A>C) n.3344A>C c.1153A>C (p.Met385Leu) c.3274A>C (p.Met1092Leu) c.2545A>C (p.Met849Leu) c.1705A>C (p.Met569Leu) | gnomAD v4 |
| 16 | g.1520743C>A | CA394224977 | IFT140 | c.3519G>T (p.Lys1173Asn) c.1101G>T (p.Lys367Asn) c.*1957G>T (n.*1957G>T) n.3343G>T c.1152G>T (p.Lys384Asn) c.3273G>T (p.Lys1091Asn) c.2544G>T (p.Lys848Asn) c.1704G>T (p.Lys568Asn) | |
| 16 | g.1520743C>G | CA394224978 | IFT140 | c.3519G>C (p.Lys1173Asn) c.1101G>C (p.Lys367Asn) c.*1957G>C (n.*1957G>C) n.3343G>C c.1152G>C (p.Lys384Asn) c.3273G>C (p.Lys1091Asn) c.2544G>C (p.Lys848Asn) c.1704G>C (p.Lys568Asn) | |
| 16 | g.1520743C>T | CA492931920 | IFT140 | c.3519G>A (p.Lys1173=) c.1101G>A (p.Lys367=) c.*1957G>A (n.*1957G>A) n.3343G>A c.1152G>A (p.Lys384=) c.3273G>A (p.Lys1091=) c.2544G>A (p.Lys848=) c.1704G>A (p.Lys568=) | |
| 16 | g.1520744T>A | CA394224979 | IFT140 | c.3518A>T (p.Lys1173Met) c.1100A>T (p.Lys367Met) c.*1956A>T (n.*1956A>T) n.3342A>T c.1151A>T (p.Lys384Met) c.3272A>T (p.Lys1091Met) c.2543A>T (p.Lys848Met) c.1703A>T (p.Lys568Met) | |
| 16 | g.1520744T>C | CA394224980 | IFT140 | c.3518A>G (p.Lys1173Arg) c.1100A>G (p.Lys367Arg) c.*1956A>G (n.*1956A>G) n.3342A>G c.1151A>G (p.Lys384Arg) c.3272A>G (p.Lys1091Arg) c.2543A>G (p.Lys848Arg) c.1703A>G (p.Lys568Arg) | gnomAD v4 |
| 16 | g.1520744T>G | CA394224981 | IFT140 | c.3518A>C (p.Lys1173Thr) c.1100A>C (p.Lys367Thr) c.*1956A>C (n.*1956A>C) n.3342A>C c.1151A>C (p.Lys384Thr) c.3272A>C (p.Lys1091Thr) c.2543A>C (p.Lys848Thr) c.1703A>C (p.Lys568Thr) | |
| 16 | g.1520747del | CA2631006491 | IFT140 | c.3518del (p.Lys1173ArgfsTer2) c.1100del (p.Lys367ArgfsTer2) c.*1956del (n.*1956del) n.3342del c.1151del (p.Lys384ArgfsTer2) c.3272del (p.Lys1091ArgfsTer2) c.2543del (p.Lys848ArgfsTer2) c.1703del (p.Lys568ArgfsTer2) | gnomAD v4 |
| 16 | g.1520745T>A | CA394224982 | IFT140 | c.3517A>T (p.Lys1173Ter) c.1099A>T (p.Lys367Ter) c.*1955A>T (n.*1955A>T) n.3341A>T c.1150A>T (p.Lys384Ter) c.3271A>T (p.Lys1091Ter) c.2542A>T (p.Lys848Ter) c.1702A>T (p.Lys568Ter) | |
| 16 | g.1520745T>C | CA394224983 | IFT140 | c.3517A>G (p.Lys1173Glu) c.1099A>G (p.Lys367Glu) c.*1955A>G (n.*1955A>G) n.3341A>G c.1150A>G (p.Lys384Glu) c.3271A>G (p.Lys1091Glu) c.2542A>G (p.Lys848Glu) c.1702A>G (p.Lys568Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520745T>G | CA394224984 | IFT140 | c.3517A>C (p.Lys1173Gln) c.1099A>C (p.Lys367Gln) c.*1955A>C (n.*1955A>C) n.3341A>C c.1150A>C (p.Lys384Gln) c.3271A>C (p.Lys1091Gln) c.2542A>C (p.Lys848Gln) c.1702A>C (p.Lys568Gln) | |
| 16 | g.1520745T= | CA2201723752 | IFT140 | c.3517A= (p.Lys1173=) c.1099A= (p.Lys367=) c.*1955A= (n.*1955A=) n.3341A= c.1150A= (p.Lys384=) c.3271A= (p.Lys1091=) c.2542A= (p.Lys848=) c.1702A= (p.Lys568=) | |
| 16 | g.1520746T>A | CA394224985 | IFT140 | c.3516A>T (p.Glu1172Asp) c.1098A>T (p.Glu366Asp) c.*1954A>T (n.*1954A>T) n.3340A>T c.1149A>T (p.Glu383Asp) c.3270A>T (p.Glu1090Asp) c.2541A>T (p.Glu847Asp) c.1701A>T (p.Glu567Asp) | |
| 16 | g.1520746T>C | CA492931921 | IFT140 | c.3516A>G (p.Glu1172=) c.1098A>G (p.Glu366=) c.*1954A>G (n.*1954A>G) n.3340A>G c.1149A>G (p.Glu383=) c.3270A>G (p.Glu1090=) c.2541A>G (p.Glu847=) c.1701A>G (p.Glu567=) | dbSNP |
| 16 | g.1520746T>G | CA394224986 | IFT140 | c.3516A>C (p.Glu1172Asp) c.1098A>C (p.Glu366Asp) c.*1954A>C (n.*1954A>C) n.3340A>C c.1149A>C (p.Glu383Asp) c.3270A>C (p.Glu1090Asp) c.2541A>C (p.Glu847Asp) c.1701A>C (p.Glu567Asp) | |
| 16 | g.1520747T>A | CA394224988 | IFT140 | c.3515A>T (p.Glu1172Val) c.1097A>T (p.Glu366Val) c.*1953A>T (n.*1953A>T) n.3339A>T c.1148A>T (p.Glu383Val) c.3269A>T (p.Glu1090Val) c.2540A>T (p.Glu847Val) c.1700A>T (p.Glu567Val) | |
| 16 | g.1520747T>C | CA394224989 | IFT140 | c.3515A>G (p.Glu1172Gly) c.1097A>G (p.Glu366Gly) c.*1953A>G (n.*1953A>G) n.3339A>G c.1148A>G (p.Glu383Gly) c.3269A>G (p.Glu1090Gly) c.2540A>G (p.Glu847Gly) c.1700A>G (p.Glu567Gly) | |
| 16 | g.1520747T>G | CA394224987 | IFT140 | c.3515A>C (p.Glu1172Ala) c.1097A>C (p.Glu366Ala) c.*1953A>C (n.*1953A>C) n.3339A>C c.1148A>C (p.Glu383Ala) c.3269A>C (p.Glu1090Ala) c.2540A>C (p.Glu847Ala) c.1700A>C (p.Glu567Ala) | |
| 16 | g.1520748C>A | CA394224992 | IFT140 | c.3514G>T (p.Glu1172Ter) c.1096G>T (p.Glu366Ter) c.*1952G>T (n.*1952G>T) n.3338G>T c.1147G>T (p.Glu383Ter) c.3268G>T (p.Glu1090Ter) c.2539G>T (p.Glu847Ter) c.1699G>T (p.Glu567Ter) | |
| 16 | g.1520748C>G | CA394224990 | IFT140 | c.3514G>C (p.Glu1172Gln) c.1096G>C (p.Glu366Gln) c.*1952G>C (n.*1952G>C) n.3338G>C c.1147G>C (p.Glu383Gln) c.3268G>C (p.Glu1090Gln) c.2539G>C (p.Glu847Gln) c.1699G>C (p.Glu567Gln) | |
| 16 | g.1520748C>T | CA394224991 | IFT140 | c.3514G>A (p.Glu1172Lys) c.1096G>A (p.Glu366Lys) c.*1952G>A (n.*1952G>A) n.3338G>A c.1147G>A (p.Glu383Lys) c.3268G>A (p.Glu1090Lys) c.2539G>A (p.Glu847Lys) c.1699G>A (p.Glu567Lys) | |
| 16 | g.1520749C>A | CA492931922 | IFT140 | c.3513G>T (p.Ala1171=) c.1095G>T (p.Ala365=) c.*1951G>T (n.*1951G>T) n.3337G>T c.1146G>T (p.Ala382=) c.3267G>T (p.Ala1089=) c.2538G>T (p.Ala846=) c.1698G>T (p.Ala566=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520749C= | CA2201723753 | IFT140 | c.3513G= (p.Ala1171=) c.1095G= (p.Ala365=) c.*1951G= (n.*1951G=) n.3337G= c.1146G= (p.Ala382=) c.3267G= (p.Ala1089=) c.2538G= (p.Ala846=) c.1698G= (p.Ala566=) | |
| 16 | g.1520749C>G | CA492931923 | IFT140 | c.3513G>C (p.Ala1171=) c.1095G>C (p.Ala365=) c.*1951G>C (n.*1951G>C) n.3337G>C c.1146G>C (p.Ala382=) c.3267G>C (p.Ala1089=) c.2538G>C (p.Ala846=) c.1698G>C (p.Ala566=) | |
| 16 | g.1520749C>T | CA7813129 | IFT140 | c.3513G>A (p.Ala1171=) c.1095G>A (p.Ala365=) c.*1951G>A (n.*1951G>A) n.3337G>A c.1146G>A (p.Ala382=) c.3267G>A (p.Ala1089=) c.2538G>A (p.Ala846=) c.1698G>A (p.Ala566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |