UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.1520582T>C | CA2631006266 | IFT140 | c.3660+20A>G (n.3660+20A>G) c.1242+20A>G (n.1242+20A>G) c.*2098+20A>G (n.*2098+20A>G) n.3484+20A>G c.1293+20A>G (n.1293+20A>G) c.3414+20A>G (n.3414+20A>G) c.2685+20A>G (n.2685+20A>G) c.1845+20A>G (n.1845+20A>G) | gnomAD v4 |
| 16 | g.1520583G>A | CA620701159 | IFT140 | c.3660+19C>T (n.3660+19C>T) c.1242+19C>T (n.1242+19C>T) c.*2098+19C>T (n.*2098+19C>T) n.3484+19C>T c.1293+19C>T (n.1293+19C>T) c.3414+19C>T (n.3414+19C>T) c.2685+19C>T (n.2685+19C>T) c.1845+19C>T (n.1845+19C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520583G>C | CA2575869158 | IFT140 | c.3660+19C>G (n.3660+19C>G) c.1242+19C>G (n.1242+19C>G) c.*2098+19C>G (n.*2098+19C>G) n.3484+19C>G c.1293+19C>G (n.1293+19C>G) c.3414+19C>G (n.3414+19C>G) c.2685+19C>G (n.2685+19C>G) c.1845+19C>G (n.1845+19C>G) | gnomAD v4 |
| 16 | g.1520583G= | CA2201723673 | IFT140 | c.3660+19C= (n.3660+19C=) c.1242+19C= (n.1242+19C=) c.*2098+19C= (n.*2098+19C=) n.3484+19C= c.1293+19C= (n.1293+19C=) c.3414+19C= (n.3414+19C=) c.2685+19C= (n.2685+19C=) c.1845+19C= (n.1845+19C=) | |
| 16 | g.1520583G>T | CA2631006270 | IFT140 | c.3660+19C>A (n.3660+19C>A) c.1242+19C>A (n.1242+19C>A) c.*2098+19C>A (n.*2098+19C>A) n.3484+19C>A c.1293+19C>A (n.1293+19C>A) c.3414+19C>A (n.3414+19C>A) c.2685+19C>A (n.2685+19C>A) c.1845+19C>A (n.1845+19C>A) | gnomAD v4 |
| 16 | g.1520586del | CA2631006268 | IFT140 | c.3660+19del (n.3660+19del) c.1242+19del (n.1242+19del) c.*2098+19del (n.*2098+19del) n.3484+19del c.1293+19del (n.1293+19del) c.3414+19del (n.3414+19del) c.2685+19del (n.2685+19del) c.1845+19del (n.1845+19del) | gnomAD v4 |
| 16 | g.1520584G>A | CA7813084 | IFT140 | c.3660+18C>T (n.3660+18C>T) c.1242+18C>T (n.1242+18C>T) c.*2098+18C>T (n.*2098+18C>T) n.3484+18C>T c.1293+18C>T (n.1293+18C>T) c.3414+18C>T (n.3414+18C>T) c.2685+18C>T (n.2685+18C>T) c.1845+18C>T (n.1845+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520584G= | CA2201723674 | IFT140 | c.3660+18C= (n.3660+18C=) c.1242+18C= (n.1242+18C=) c.*2098+18C= (n.*2098+18C=) n.3484+18C= c.1293+18C= (n.1293+18C=) c.3414+18C= (n.3414+18C=) c.2685+18C= (n.2685+18C=) c.1845+18C= (n.1845+18C=) | |
| 16 | g.1520584G>T | CA2631006273 | IFT140 | c.3660+18C>A (n.3660+18C>A) c.1242+18C>A (n.1242+18C>A) c.*2098+18C>A (n.*2098+18C>A) n.3484+18C>A c.1293+18C>A (n.1293+18C>A) c.3414+18C>A (n.3414+18C>A) c.2685+18C>A (n.2685+18C>A) c.1845+18C>A (n.1845+18C>A) | gnomAD v4 |
| 16 | g.1520585G>A | CA620701160 | IFT140 | c.3660+17C>T (n.3660+17C>T) c.1242+17C>T (n.1242+17C>T) c.*2098+17C>T (n.*2098+17C>T) n.3484+17C>T c.1293+17C>T (n.1293+17C>T) c.3414+17C>T (n.3414+17C>T) c.2685+17C>T (n.2685+17C>T) c.1845+17C>T (n.1845+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520585G= | CA2201723675 | IFT140 | c.3660+17C= (n.3660+17C=) c.1242+17C= (n.1242+17C=) c.*2098+17C= (n.*2098+17C=) n.3484+17C= c.1293+17C= (n.1293+17C=) c.3414+17C= (n.3414+17C=) c.2685+17C= (n.2685+17C=) c.1845+17C= (n.1845+17C=) | |
| 16 | g.1520585G>T | CA2631006276 | IFT140 | c.3660+17C>A (n.3660+17C>A) c.1242+17C>A (n.1242+17C>A) c.*2098+17C>A (n.*2098+17C>A) n.3484+17C>A c.1293+17C>A (n.1293+17C>A) c.3414+17C>A (n.3414+17C>A) c.2685+17C>A (n.2685+17C>A) c.1845+17C>A (n.1845+17C>A) | gnomAD v4 |
| 16 | g.1520586G>A | CA2631006277 | IFT140 | c.3660+16C>T (n.3660+16C>T) c.1242+16C>T (n.1242+16C>T) c.*2098+16C>T (n.*2098+16C>T) n.3484+16C>T c.1293+16C>T (n.1293+16C>T) c.3414+16C>T (n.3414+16C>T) c.2685+16C>T (n.2685+16C>T) c.1845+16C>T (n.1845+16C>T) | gnomAD v4 |
| 16 | g.1520586G= | CA2201723676 | IFT140 | c.3660+16C= (n.3660+16C=) c.1242+16C= (n.1242+16C=) c.*2098+16C= (n.*2098+16C=) n.3484+16C= c.1293+16C= (n.1293+16C=) c.3414+16C= (n.3414+16C=) c.2685+16C= (n.2685+16C=) c.1845+16C= (n.1845+16C=) | |
| 16 | g.1520586G>T | CA620701161 | IFT140 | c.3660+16C>A (n.3660+16C>A) c.1242+16C>A (n.1242+16C>A) c.*2098+16C>A (n.*2098+16C>A) n.3484+16C>A c.1293+16C>A (n.1293+16C>A) c.3414+16C>A (n.3414+16C>A) c.2685+16C>A (n.2685+16C>A) c.1845+16C>A (n.1845+16C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520587C>A | CA2631006278 | IFT140 | c.3660+15G>T (n.3660+15G>T) c.1242+15G>T (n.1242+15G>T) c.*2098+15G>T (n.*2098+15G>T) n.3484+15G>T c.1293+15G>T (n.1293+15G>T) c.3414+15G>T (n.3414+15G>T) c.2685+15G>T (n.2685+15G>T) c.1845+15G>T (n.1845+15G>T) | gnomAD v4 |
| 16 | g.1520587C>T | CA2631006279 | IFT140 | c.3660+15G>A (n.3660+15G>A) c.1242+15G>A (n.1242+15G>A) c.*2098+15G>A (n.*2098+15G>A) n.3484+15G>A c.1293+15G>A (n.1293+15G>A) c.3414+15G>A (n.3414+15G>A) c.2685+15G>A (n.2685+15G>A) c.1845+15G>A (n.1845+15G>A) | gnomAD v4 |
| 16 | g.1520588C>A | CA2631006280 | IFT140 | c.3660+14G>T (n.3660+14G>T) c.1242+14G>T (n.1242+14G>T) c.*2098+14G>T (n.*2098+14G>T) n.3484+14G>T c.1293+14G>T (n.1293+14G>T) c.3414+14G>T (n.3414+14G>T) c.2685+14G>T (n.2685+14G>T) c.1845+14G>T (n.1845+14G>T) | gnomAD v4 |
| 16 | g.1520588C= | CA2201723677 | IFT140 | c.3660+14G= (n.3660+14G=) c.1242+14G= (n.1242+14G=) c.*2098+14G= (n.*2098+14G=) n.3484+14G= c.1293+14G= (n.1293+14G=) c.3414+14G= (n.3414+14G=) c.2685+14G= (n.2685+14G=) c.1845+14G= (n.1845+14G=) | |
| 16 | g.1520588C>T | CA7813085 | IFT140 | c.3660+14G>A (n.3660+14G>A) c.1242+14G>A (n.1242+14G>A) c.*2098+14G>A (n.*2098+14G>A) n.3484+14G>A c.1293+14G>A (n.1293+14G>A) c.3414+14G>A (n.3414+14G>A) c.2685+14G>A (n.2685+14G>A) c.1845+14G>A (n.1845+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520589G>A | CA7813087 | IFT140 | c.3660+13C>T (n.3660+13C>T) c.1242+13C>T (n.1242+13C>T) c.*2098+13C>T (n.*2098+13C>T) n.3484+13C>T c.1293+13C>T (n.1293+13C>T) c.3414+13C>T (n.3414+13C>T) c.2685+13C>T (n.2685+13C>T) c.1845+13C>T (n.1845+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520589G>C | CA7813086 | IFT140 | c.3660+13C>G (n.3660+13C>G) c.1242+13C>G (n.1242+13C>G) c.*2098+13C>G (n.*2098+13C>G) n.3484+13C>G c.1293+13C>G (n.1293+13C>G) c.3414+13C>G (n.3414+13C>G) c.2685+13C>G (n.2685+13C>G) c.1845+13C>G (n.1845+13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520589G= | CA2201723678 | IFT140 | c.3660+13C= (n.3660+13C=) c.1242+13C= (n.1242+13C=) c.*2098+13C= (n.*2098+13C=) n.3484+13C= c.1293+13C= (n.1293+13C=) c.3414+13C= (n.3414+13C=) c.2685+13C= (n.2685+13C=) c.1845+13C= (n.1845+13C=) | |
| 16 | g.1520589G>T | CA2631006288 | IFT140 | c.3660+13C>A (n.3660+13C>A) c.1242+13C>A (n.1242+13C>A) c.*2098+13C>A (n.*2098+13C>A) n.3484+13C>A c.1293+13C>A (n.1293+13C>A) c.3414+13C>A (n.3414+13C>A) c.2685+13C>A (n.2685+13C>A) c.1845+13C>A (n.1845+13C>A) | gnomAD v4 |
| 16 | g.1520590G>A | CA7813088 | IFT140 | c.3660+12C>T (n.3660+12C>T) c.1242+12C>T (n.1242+12C>T) c.*2098+12C>T (n.*2098+12C>T) n.3484+12C>T c.1293+12C>T (n.1293+12C>T) c.3414+12C>T (n.3414+12C>T) c.2685+12C>T (n.2685+12C>T) c.1845+12C>T (n.1845+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520590G= | CA2201723679 | IFT140 | c.3660+12C= (n.3660+12C=) c.1242+12C= (n.1242+12C=) c.*2098+12C= (n.*2098+12C=) n.3484+12C= c.1293+12C= (n.1293+12C=) c.3414+12C= (n.3414+12C=) c.2685+12C= (n.2685+12C=) c.1845+12C= (n.1845+12C=) | |
| 16 | g.1520590G>T | CA2631006292 | IFT140 | c.3660+12C>A (n.3660+12C>A) c.1242+12C>A (n.1242+12C>A) c.*2098+12C>A (n.*2098+12C>A) n.3484+12C>A c.1293+12C>A (n.1293+12C>A) c.3414+12C>A (n.3414+12C>A) c.2685+12C>A (n.2685+12C>A) c.1845+12C>A (n.1845+12C>A) | gnomAD v4 |
| 16 | g.1520591G>A | CA2631006294 | IFT140 | c.3660+11C>T (n.3660+11C>T) c.1242+11C>T (n.1242+11C>T) c.*2098+11C>T (n.*2098+11C>T) n.3484+11C>T c.1293+11C>T (n.1293+11C>T) c.3414+11C>T (n.3414+11C>T) c.2685+11C>T (n.2685+11C>T) c.1845+11C>T (n.1845+11C>T) | gnomAD v4 |
| 16 | g.1520591G>T | CA2631006296 | IFT140 | c.3660+11C>A (n.3660+11C>A) c.1242+11C>A (n.1242+11C>A) c.*2098+11C>A (n.*2098+11C>A) n.3484+11C>A c.1293+11C>A (n.1293+11C>A) c.3414+11C>A (n.3414+11C>A) c.2685+11C>A (n.2685+11C>A) c.1845+11C>A (n.1845+11C>A) | gnomAD v4 |
| 16 | g.1520592A>T | CA2631006298 | IFT140 | c.3660+10T>A (n.3660+10T>A) c.1242+10T>A (n.1242+10T>A) c.*2098+10T>A (n.*2098+10T>A) n.3484+10T>A c.1293+10T>A (n.1293+10T>A) c.3414+10T>A (n.3414+10T>A) c.2685+10T>A (n.2685+10T>A) c.1845+10T>A (n.1845+10T>A) | gnomAD v4 |
| 16 | g.1520593G>A | CA620701162 | IFT140 | c.3660+9C>T (n.3660+9C>T) c.1242+9C>T (n.1242+9C>T) c.*2098+9C>T (n.*2098+9C>T) n.3484+9C>T c.1293+9C>T (n.1293+9C>T) c.3414+9C>T (n.3414+9C>T) c.2685+9C>T (n.2685+9C>T) c.1845+9C>T (n.1845+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520593G= | CA2201723680 | IFT140 | c.3660+9C= (n.3660+9C=) c.1242+9C= (n.1242+9C=) c.*2098+9C= (n.*2098+9C=) n.3484+9C= c.1293+9C= (n.1293+9C=) c.3414+9C= (n.3414+9C=) c.2685+9C= (n.2685+9C=) c.1845+9C= (n.1845+9C=) | |
| 16 | g.1520593G>T | CA2631006299 | IFT140 | c.3660+9C>A (n.3660+9C>A) c.1242+9C>A (n.1242+9C>A) c.*2098+9C>A (n.*2098+9C>A) n.3484+9C>A c.1293+9C>A (n.1293+9C>A) c.3414+9C>A (n.3414+9C>A) c.2685+9C>A (n.2685+9C>A) c.1845+9C>A (n.1845+9C>A) | gnomAD v4 |
| 16 | g.1520594A>G | CA2631006302 | IFT140 | c.3660+8T>C (n.3660+8T>C) c.1242+8T>C (n.1242+8T>C) c.*2098+8T>C (n.*2098+8T>C) n.3484+8T>C c.1293+8T>C (n.1293+8T>C) c.3414+8T>C (n.3414+8T>C) c.2685+8T>C (n.2685+8T>C) c.1845+8T>C (n.1845+8T>C) | gnomAD v4 |
| 16 | g.1520595G>T | CA2631006303 | IFT140 | c.3660+7C>A (n.3660+7C>A) c.1242+7C>A (n.1242+7C>A) c.*2098+7C>A (n.*2098+7C>A) n.3484+7C>A c.1293+7C>A (n.1293+7C>A) c.3414+7C>A (n.3414+7C>A) c.2685+7C>A (n.2685+7C>A) c.1845+7C>A (n.1845+7C>A) | gnomAD v4 |
| 16 | g.1520596G>A | CA2631006305 | IFT140 | c.3660+6C>T (n.3660+6C>T) c.1242+6C>T (n.1242+6C>T) c.*2098+6C>T (n.*2098+6C>T) n.3484+6C>T c.1293+6C>T (n.1293+6C>T) c.3414+6C>T (n.3414+6C>T) c.2685+6C>T (n.2685+6C>T) c.1845+6C>T (n.1845+6C>T) | gnomAD v4 |
| 16 | g.1520597C>A | CA2631006306 | IFT140 | c.3660+5G>T (n.3660+5G>T) c.1242+5G>T (n.1242+5G>T) c.*2098+5G>T (n.*2098+5G>T) n.3484+5G>T c.1293+5G>T (n.1293+5G>T) c.3414+5G>T (n.3414+5G>T) c.2685+5G>T (n.2685+5G>T) c.1845+5G>T (n.1845+5G>T) | gnomAD v4 |
| 16 | g.1520597C>T | CA2631006307 | IFT140 | c.3660+5G>A (n.3660+5G>A) c.1242+5G>A (n.1242+5G>A) c.*2098+5G>A (n.*2098+5G>A) n.3484+5G>A c.1293+5G>A (n.1293+5G>A) c.3414+5G>A (n.3414+5G>A) c.2685+5G>A (n.2685+5G>A) c.1845+5G>A (n.1845+5G>A) | gnomAD v4 |
| 16 | g.1520598T>A | CA2631006308 | IFT140 | c.3660+4A>T (n.3660+4A>T) c.1242+4A>T (n.1242+4A>T) c.*2098+4A>T (n.*2098+4A>T) n.3484+4A>T c.1293+4A>T (n.1293+4A>T) c.3414+4A>T (n.3414+4A>T) c.2685+4A>T (n.2685+4A>T) c.1845+4A>T (n.1845+4A>T) | gnomAD v4 |
| 16 | g.1520598T>C | CA2631006309 | IFT140 | c.3660+4A>G (n.3660+4A>G) c.1242+4A>G (n.1242+4A>G) c.*2098+4A>G (n.*2098+4A>G) n.3484+4A>G c.1293+4A>G (n.1293+4A>G) c.3414+4A>G (n.3414+4A>G) c.2685+4A>G (n.2685+4A>G) c.1845+4A>G (n.1845+4A>G) | gnomAD v4 |
| 16 | g.1520599C>A | CA2631006311 | IFT140 | c.3660+3G>T (n.3660+3G>T) c.1242+3G>T (n.1242+3G>T) c.*2098+3G>T (n.*2098+3G>T) n.3484+3G>T c.1293+3G>T (n.1293+3G>T) c.3414+3G>T (n.3414+3G>T) c.2685+3G>T (n.2685+3G>T) c.1845+3G>T (n.1845+3G>T) | gnomAD v4 |
| 16 | g.1520599C= | CA2201723681 | IFT140 | c.3660+3G= (n.3660+3G=) c.1242+3G= (n.1242+3G=) c.*2098+3G= (n.*2098+3G=) n.3484+3G= c.1293+3G= (n.1293+3G=) c.3414+3G= (n.3414+3G=) c.2685+3G= (n.2685+3G=) c.1845+3G= (n.1845+3G=) | |
| 16 | g.1520599C>G | CA620701163 | IFT140 | c.3660+3G>C (n.3660+3G>C) c.1242+3G>C (n.1242+3G>C) c.*2098+3G>C (n.*2098+3G>C) n.3484+3G>C c.1293+3G>C (n.1293+3G>C) c.3414+3G>C (n.3414+3G>C) c.2685+3G>C (n.2685+3G>C) c.1845+3G>C (n.1845+3G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520599C>T | CA2631006313 | IFT140 | c.3660+3G>A (n.3660+3G>A) c.1242+3G>A (n.1242+3G>A) c.*2098+3G>A (n.*2098+3G>A) n.3484+3G>A c.1293+3G>A (n.1293+3G>A) c.3414+3G>A (n.3414+3G>A) c.2685+3G>A (n.2685+3G>A) c.1845+3G>A (n.1845+3G>A) | gnomAD v4 |
| 16 | g.1520600A= | CA2201723682 | IFT140 | c.3660+2T= (n.3660+2T=) c.1242+2T= (n.1242+2T=) c.*2098+2T= (n.*2098+2T=) n.3484+2T= c.1293+2T= (n.1293+2T=) c.3414+2T= (n.3414+2T=) c.2685+2T= (n.2685+2T=) c.1845+2T= (n.1845+2T=) | |
| 16 | g.1520600A>C | CA394224681 | IFT140 | c.3660+2T>G (n.3660+2T>G) c.1242+2T>G (n.1242+2T>G) c.*2098+2T>G (n.*2098+2T>G) n.3484+2T>G c.1293+2T>G (n.1293+2T>G) c.3414+2T>G (n.3414+2T>G) c.2685+2T>G (n.2685+2T>G) c.1845+2T>G (n.1845+2T>G) | dbSNP |
| 16 | g.1520600A>G | CA394224682 | IFT140 | c.3660+2T>C (n.3660+2T>C) c.1242+2T>C (n.1242+2T>C) c.*2098+2T>C (n.*2098+2T>C) n.3484+2T>C c.1293+2T>C (n.1293+2T>C) c.3414+2T>C (n.3414+2T>C) c.2685+2T>C (n.2685+2T>C) c.1845+2T>C (n.1845+2T>C) | |
| 16 | g.1520600A>T | CA394224683 | IFT140 | c.3660+2T>A (n.3660+2T>A) c.1242+2T>A (n.1242+2T>A) c.*2098+2T>A (n.*2098+2T>A) n.3484+2T>A c.1293+2T>A (n.1293+2T>A) c.3414+2T>A (n.3414+2T>A) c.2685+2T>A (n.2685+2T>A) c.1845+2T>A (n.1845+2T>A) | |
| 16 | g.1520601C>A | CA394224684 | IFT140 | c.3660+1G>T (n.3660+1G>T) c.1242+1G>T (n.1242+1G>T) c.*2098+1G>T (n.*2098+1G>T) n.3484+1G>T c.1293+1G>T (n.1293+1G>T) c.3414+1G>T (n.3414+1G>T) c.2685+1G>T (n.2685+1G>T) c.1845+1G>T (n.1845+1G>T) | gnomAD v4 |
| 16 | g.1520601C= | CA2201723683 | IFT140 | c.3660+1G= (n.3660+1G=) c.1242+1G= (n.1242+1G=) c.*2098+1G= (n.*2098+1G=) n.3484+1G= c.1293+1G= (n.1293+1G=) c.3414+1G= (n.3414+1G=) c.2685+1G= (n.2685+1G=) c.1845+1G= (n.1845+1G=) | |
| 16 | g.1520601C>G | CA394224685 | IFT140 | c.3660+1G>C (n.3660+1G>C) c.1242+1G>C (n.1242+1G>C) c.*2098+1G>C (n.*2098+1G>C) n.3484+1G>C c.1293+1G>C (n.1293+1G>C) c.3414+1G>C (n.3414+1G>C) c.2685+1G>C (n.2685+1G>C) c.1845+1G>C (n.1845+1G>C) | |
| 16 | g.1520601C>T | CA394224686 | IFT140 | c.3660+1G>A (n.3660+1G>A) c.1242+1G>A (n.1242+1G>A) c.*2098+1G>A (n.*2098+1G>A) n.3484+1G>A c.1293+1G>A (n.1293+1G>A) c.3414+1G>A (n.3414+1G>A) c.2685+1G>A (n.2685+1G>A) c.1845+1G>A (n.1845+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520602C>A | CA394224687 | IFT140 | c.3660G>T (p.Lys1220Asn) c.1242G>T (p.Lys414Asn) c.*2098G>T (n.*2098G>T) n.3484G>T c.1293G>T (p.Lys431Asn) c.3414G>T (p.Lys1138Asn) c.2685G>T (p.Lys895Asn) c.1845G>T (p.Lys615Asn) | gnomAD v4 |
| 16 | g.1520602C>G | CA394224688 | IFT140 | c.3660G>C (p.Lys1220Asn) c.1242G>C (p.Lys414Asn) c.*2098G>C (n.*2098G>C) n.3484G>C c.1293G>C (p.Lys431Asn) c.3414G>C (p.Lys1138Asn) c.2685G>C (p.Lys895Asn) c.1845G>C (p.Lys615Asn) | |
| 16 | g.1520602C>T | CA492931783 | IFT140 | c.3660G>A (p.Lys1220=) c.1242G>A (p.Lys414=) c.*2098G>A (n.*2098G>A) n.3484G>A c.1293G>A (p.Lys431=) c.3414G>A (p.Lys1138=) c.2685G>A (p.Lys895=) c.1845G>A (p.Lys615=) | gnomAD v4 |
| 16 | g.1520603T>A | CA394224689 | IFT140 | c.3659A>T (p.Lys1220Met) c.1241A>T (p.Lys414Met) c.*2097A>T (n.*2097A>T) n.3483A>T c.1292A>T (p.Lys431Met) c.3413A>T (p.Lys1138Met) c.2684A>T (p.Lys895Met) c.1844A>T (p.Lys615Met) | |
| 16 | g.1520603T>C | CA394224690 | IFT140 | c.3659A>G (p.Lys1220Arg) c.1241A>G (p.Lys414Arg) c.*2097A>G (n.*2097A>G) n.3483A>G c.1292A>G (p.Lys431Arg) c.3413A>G (p.Lys1138Arg) c.2684A>G (p.Lys895Arg) c.1844A>G (p.Lys615Arg) | |
| 16 | g.1520603T>G | CA394224691 | IFT140 | c.3659A>C (p.Lys1220Thr) c.1241A>C (p.Lys414Thr) c.*2097A>C (n.*2097A>C) n.3483A>C c.1292A>C (p.Lys431Thr) c.3413A>C (p.Lys1138Thr) c.2684A>C (p.Lys895Thr) c.1844A>C (p.Lys615Thr) | |
| 16 | g.1520604del | CA2631006321 | IFT140 | c.3659del (p.Lys1220ArgfsTer3) c.1241del (p.Lys414ArgfsTer3) c.*2097del (n.*2097del) n.3483del c.1292del (p.Lys431ArgfsTer3) c.3413del (p.Lys1138ArgfsTer3) c.2684del (p.Lys895ArgfsTer3) c.1844del (p.Lys615ArgfsTer3) | gnomAD v4 |
| 16 | g.1520604T>A | CA394224692 | IFT140 | c.3658A>T (p.Lys1220Ter) c.1240A>T (p.Lys414Ter) c.*2096A>T (n.*2096A>T) n.3482A>T c.1291A>T (p.Lys431Ter) c.3412A>T (p.Lys1138Ter) c.2683A>T (p.Lys895Ter) c.1843A>T (p.Lys615Ter) | |
| 16 | g.1520604T>C | CA394224694 | IFT140 | c.3658A>G (p.Lys1220Glu) c.1240A>G (p.Lys414Glu) c.*2096A>G (n.*2096A>G) n.3482A>G c.1291A>G (p.Lys431Glu) c.3412A>G (p.Lys1138Glu) c.2683A>G (p.Lys895Glu) c.1843A>G (p.Lys615Glu) | gnomAD v4 |
| 16 | g.1520604T>G | CA394224693 | IFT140 | c.3658A>C (p.Lys1220Gln) c.1240A>C (p.Lys414Gln) c.*2096A>C (n.*2096A>C) n.3482A>C c.1291A>C (p.Lys431Gln) c.3412A>C (p.Lys1138Gln) c.2683A>C (p.Lys895Gln) c.1843A>C (p.Lys615Gln) | |
| 16 | g.1520605C>A | CA492931786 | IFT140 | c.3657G>T (p.Leu1219=) c.1239G>T (p.Leu413=) c.*2095G>T (n.*2095G>T) n.3481G>T c.1290G>T (p.Leu430=) c.3411G>T (p.Leu1137=) c.2682G>T (p.Leu894=) c.1842G>T (p.Leu614=) | gnomAD v4 |
| 16 | g.1520605C>G | CA492931788 | IFT140 | c.3657G>C (p.Leu1219=) c.1239G>C (p.Leu413=) c.*2095G>C (n.*2095G>C) n.3481G>C c.1290G>C (p.Leu430=) c.3411G>C (p.Leu1137=) c.2682G>C (p.Leu894=) c.1842G>C (p.Leu614=) | |
| 16 | g.1520605C>T | CA492931789 | IFT140 | c.3657G>A (p.Leu1219=) c.1239G>A (p.Leu413=) c.*2095G>A (n.*2095G>A) n.3481G>A c.1290G>A (p.Leu430=) c.3411G>A (p.Leu1137=) c.2682G>A (p.Leu894=) c.1842G>A (p.Leu614=) | gnomAD v4 |
| 16 | g.1520606A>C | CA394224695 | IFT140 | c.3656T>G (p.Leu1219Arg) c.1238T>G (p.Leu413Arg) c.*2094T>G (n.*2094T>G) n.3480T>G c.1289T>G (p.Leu430Arg) c.3410T>G (p.Leu1137Arg) c.2681T>G (p.Leu894Arg) c.1841T>G (p.Leu614Arg) | |
| 16 | g.1520606A>G | CA394224696 | IFT140 | c.3656T>C (p.Leu1219Pro) c.1238T>C (p.Leu413Pro) c.*2094T>C (n.*2094T>C) n.3480T>C c.1289T>C (p.Leu430Pro) c.3410T>C (p.Leu1137Pro) c.2681T>C (p.Leu894Pro) c.1841T>C (p.Leu614Pro) | gnomAD v4 |
| 16 | g.1520606A>T | CA394224697 | IFT140 | c.3656T>A (p.Leu1219Gln) c.1238T>A (p.Leu413Gln) c.*2094T>A (n.*2094T>A) n.3480T>A c.1289T>A (p.Leu430Gln) c.3410T>A (p.Leu1137Gln) c.2681T>A (p.Leu894Gln) c.1841T>A (p.Leu614Gln) | |
| 16 | g.1520607G>A | CA492931790 | IFT140 | c.3655C>T (p.Leu1219=) c.1237C>T (p.Leu413=) c.*2093C>T (n.*2093C>T) n.3479C>T c.1288C>T (p.Leu430=) c.3409C>T (p.Leu1137=) c.2680C>T (p.Leu894=) c.1840C>T (p.Leu614=) | ClinVar gnomAD v4 |
| 16 | g.1520607G>C | CA394224698 | IFT140 | c.3655C>G (p.Leu1219Val) c.1237C>G (p.Leu413Val) c.*2093C>G (n.*2093C>G) n.3479C>G c.1288C>G (p.Leu430Val) c.3409C>G (p.Leu1137Val) c.2680C>G (p.Leu894Val) c.1840C>G (p.Leu614Val) | |
| 16 | g.1520607G>T | CA394224699 | IFT140 | c.3655C>A (p.Leu1219Met) c.1237C>A (p.Leu413Met) c.*2093C>A (n.*2093C>A) n.3479C>A c.1288C>A (p.Leu430Met) c.3409C>A (p.Leu1137Met) c.2680C>A (p.Leu894Met) c.1840C>A (p.Leu614Met) | gnomAD v4 |
| 16 | g.1520608C>A | CA394224700 | IFT140 | c.3654G>T (p.Lys1218Asn) c.1236G>T (p.Lys412Asn) c.*2092G>T (n.*2092G>T) n.3478G>T c.1287G>T (p.Lys429Asn) c.3408G>T (p.Lys1136Asn) c.2679G>T (p.Lys893Asn) c.1839G>T (p.Lys613Asn) | gnomAD v4 |
| 16 | g.1520608C>G | CA394224701 | IFT140 | c.3654G>C (p.Lys1218Asn) c.1236G>C (p.Lys412Asn) c.*2092G>C (n.*2092G>C) n.3478G>C c.1287G>C (p.Lys429Asn) c.3408G>C (p.Lys1136Asn) c.2679G>C (p.Lys893Asn) c.1839G>C (p.Lys613Asn) | |
| 16 | g.1520608C>T | CA492931791 | IFT140 | c.3654G>A (p.Lys1218=) c.1236G>A (p.Lys412=) c.*2092G>A (n.*2092G>A) n.3478G>A c.1287G>A (p.Lys429=) c.3408G>A (p.Lys1136=) c.2679G>A (p.Lys893=) c.1839G>A (p.Lys613=) | gnomAD v4 |
| 16 | g.1520609T>A | CA394224702 | IFT140 | c.3653A>T (p.Lys1218Met) c.1235A>T (p.Lys412Met) c.*2091A>T (n.*2091A>T) n.3477A>T c.1286A>T (p.Lys429Met) c.3407A>T (p.Lys1136Met) c.2678A>T (p.Lys893Met) c.1838A>T (p.Lys613Met) | gnomAD v4 |
| 16 | g.1520609T>C | CA394224703 | IFT140 | c.3653A>G (p.Lys1218Arg) c.1235A>G (p.Lys412Arg) c.*2091A>G (n.*2091A>G) n.3477A>G c.1286A>G (p.Lys429Arg) c.3407A>G (p.Lys1136Arg) c.2678A>G (p.Lys893Arg) c.1838A>G (p.Lys613Arg) | |
| 16 | g.1520609T>G | CA394224704 | IFT140 | c.3653A>C (p.Lys1218Thr) c.1235A>C (p.Lys412Thr) c.*2091A>C (n.*2091A>C) n.3477A>C c.1286A>C (p.Lys429Thr) c.3407A>C (p.Lys1136Thr) c.2678A>C (p.Lys893Thr) c.1838A>C (p.Lys613Thr) | |
| 16 | g.1520610T>A | CA394224705 | IFT140 | c.3652A>T (p.Lys1218Ter) c.1234A>T (p.Lys412Ter) c.*2090A>T (n.*2090A>T) n.3476A>T c.1285A>T (p.Lys429Ter) c.3406A>T (p.Lys1136Ter) c.2677A>T (p.Lys893Ter) c.1837A>T (p.Lys613Ter) | gnomAD v4 |
| 16 | g.1520610T>C | CA394224706 | IFT140 | c.3652A>G (p.Lys1218Glu) c.1234A>G (p.Lys412Glu) c.*2090A>G (n.*2090A>G) n.3476A>G c.1285A>G (p.Lys429Glu) c.3406A>G (p.Lys1136Glu) c.2677A>G (p.Lys893Glu) c.1837A>G (p.Lys613Glu) | gnomAD v4 |
| 16 | g.1520610T>G | CA394224707 | IFT140 | c.3652A>C (p.Lys1218Gln) c.1234A>C (p.Lys412Gln) c.*2090A>C (n.*2090A>C) n.3476A>C c.1285A>C (p.Lys429Gln) c.3406A>C (p.Lys1136Gln) c.2677A>C (p.Lys893Gln) c.1837A>C (p.Lys613Gln) | |
| 16 | g.1520611G>A | CA7813089 | IFT140 | c.3651C>T (p.Asn1217=) c.1233C>T (p.Asn411=) c.*2089C>T (n.*2089C>T) n.3475C>T c.1284C>T (p.Asn428=) c.3405C>T (p.Asn1135=) c.2676C>T (p.Asn892=) c.1836C>T (p.Asn612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520611G>C | CA394224709 | IFT140 | c.3651C>G (p.Asn1217Lys) c.1233C>G (p.Asn411Lys) c.*2089C>G (n.*2089C>G) n.3475C>G c.1284C>G (p.Asn428Lys) c.3405C>G (p.Asn1135Lys) c.2676C>G (p.Asn892Lys) c.1836C>G (p.Asn612Lys) | gnomAD v4 |
| 16 | g.1520611G= | CA2201723684 | IFT140 | c.3651C= (p.Asn1217=) c.1233C= (p.Asn411=) c.*2089C= (n.*2089C=) n.3475C= c.1284C= (p.Asn428=) c.3405C= (p.Asn1135=) c.2676C= (p.Asn892=) c.1836C= (p.Asn612=) | |
| 16 | g.1520611G>T | CA394224708 | IFT140 | c.3651C>A (p.Asn1217Lys) c.1233C>A (p.Asn411Lys) c.*2089C>A (n.*2089C>A) n.3475C>A c.1284C>A (p.Asn428Lys) c.3405C>A (p.Asn1135Lys) c.2676C>A (p.Asn892Lys) c.1836C>A (p.Asn612Lys) | gnomAD v4 |
| 16 | g.1520612T>A | CA394224710 | IFT140 | c.3650A>T (p.Asn1217Ile) c.1232A>T (p.Asn411Ile) c.*2088A>T (n.*2088A>T) n.3474A>T c.1283A>T (p.Asn428Ile) c.3404A>T (p.Asn1135Ile) c.2675A>T (p.Asn892Ile) c.1835A>T (p.Asn612Ile) | |
| 16 | g.1520612T>C | CA7813090 | IFT140 | c.3650A>G (p.Asn1217Ser) c.1232A>G (p.Asn411Ser) c.*2088A>G (n.*2088A>G) n.3474A>G c.1283A>G (p.Asn428Ser) c.3404A>G (p.Asn1135Ser) c.2675A>G (p.Asn892Ser) c.1835A>G (p.Asn612Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520612T>G | CA394224711 | IFT140 | c.3650A>C (p.Asn1217Thr) c.1232A>C (p.Asn411Thr) c.*2088A>C (n.*2088A>C) n.3474A>C c.1283A>C (p.Asn428Thr) c.3404A>C (p.Asn1135Thr) c.2675A>C (p.Asn892Thr) c.1835A>C (p.Asn612Thr) | dbSNP |
| 16 | g.1520612T= | CA2201723685 | IFT140 | c.3650A= (p.Asn1217=) c.1232A= (p.Asn411=) c.*2088A= (n.*2088A=) n.3474A= c.1283A= (p.Asn428=) c.3404A= (p.Asn1135=) c.2675A= (p.Asn892=) c.1835A= (p.Asn612=) | |
| 16 | g.1520613T>A | CA394224712 | IFT140 | c.3649A>T (p.Asn1217Tyr) c.1231A>T (p.Asn411Tyr) c.*2087A>T (n.*2087A>T) n.3473A>T c.1282A>T (p.Asn428Tyr) c.3403A>T (p.Asn1135Tyr) c.2674A>T (p.Asn892Tyr) c.1834A>T (p.Asn612Tyr) | |
| 16 | g.1520613T>C | CA394224713 | IFT140 | c.3649A>G (p.Asn1217Asp) c.1231A>G (p.Asn411Asp) c.*2087A>G (n.*2087A>G) n.3473A>G c.1282A>G (p.Asn428Asp) c.3403A>G (p.Asn1135Asp) c.2674A>G (p.Asn892Asp) c.1834A>G (p.Asn612Asp) | gnomAD v4 |
| 16 | g.1520613T>G | CA394224714 | IFT140 | c.3649A>C (p.Asn1217His) c.1231A>C (p.Asn411His) c.*2087A>C (n.*2087A>C) n.3473A>C c.1282A>C (p.Asn428His) c.3403A>C (p.Asn1135His) c.2674A>C (p.Asn892His) c.1834A>C (p.Asn612His) | gnomAD v4 |
| 16 | g.1520614_1520615insATG | CA2631006342 | IFT140 | c.3649_3650insTCA (p.Gly1216_Asn1217insIle) c.1231_1232insTCA (p.Gly410_Asn411insIle) c.*2087_*2088insTCA (n.*2087_*2088insTCA) n.3473_3474insTCA c.1282_1283insTCA (p.Gly427_Asn428insIle) c.3403_3404insTCA (p.Gly1134_Asn1135insIle) c.2674_2675insTCA (p.Gly891_Asn892insIle) c.1834_1835insTCA (p.Gly611_Asn612insIle) | gnomAD v4 |
| 16 | g.1520614G>A | CA492931793 | IFT140 | c.3648C>T (p.Gly1216=) c.1230C>T (p.Gly410=) c.*2086C>T (n.*2086C>T) n.3472C>T c.1281C>T (p.Gly427=) c.3402C>T (p.Gly1134=) c.2673C>T (p.Gly891=) c.1833C>T (p.Gly611=) | |
| 16 | g.1520614G>C | CA492931794 | IFT140 | c.3648C>G (p.Gly1216=) c.1230C>G (p.Gly410=) c.*2086C>G (n.*2086C>G) n.3472C>G c.1281C>G (p.Gly427=) c.3402C>G (p.Gly1134=) c.2673C>G (p.Gly891=) c.1833C>G (p.Gly611=) | gnomAD v4 |
| 16 | g.1520614G>T | CA492931795 | IFT140 | c.3648C>A (p.Gly1216=) c.1230C>A (p.Gly410=) c.*2086C>A (n.*2086C>A) n.3472C>A c.1281C>A (p.Gly427=) c.3402C>A (p.Gly1134=) c.2673C>A (p.Gly891=) c.1833C>A (p.Gly611=) | gnomAD v4 |
| 16 | g.1520615C>A | CA394224715 | IFT140 | c.3647G>T (p.Gly1216Val) c.1229G>T (p.Gly410Val) c.*2085G>T (n.*2085G>T) n.3471G>T c.1280G>T (p.Gly427Val) c.3401G>T (p.Gly1134Val) c.2672G>T (p.Gly891Val) c.1832G>T (p.Gly611Val) | gnomAD v4 |
| 16 | g.1520615C= | CA2201723686 | IFT140 | c.3647G= (p.Gly1216=) c.1229G= (p.Gly410=) c.*2085G= (n.*2085G=) n.3471G= c.1280G= (p.Gly427=) c.3401G= (p.Gly1134=) c.2672G= (p.Gly891=) c.1832G= (p.Gly611=) | |
| 16 | g.1520615C>G | CA394224716 | IFT140 | c.3647G>C (p.Gly1216Ala) c.1229G>C (p.Gly410Ala) c.*2085G>C (n.*2085G>C) n.3471G>C c.1280G>C (p.Gly427Ala) c.3401G>C (p.Gly1134Ala) c.2672G>C (p.Gly891Ala) c.1832G>C (p.Gly611Ala) | |
| 16 | g.1520615C>T | CA276675848 | IFT140 | c.3647G>A (p.Gly1216Asp) c.1229G>A (p.Gly410Asp) c.*2085G>A (n.*2085G>A) n.3471G>A c.1280G>A (p.Gly427Asp) c.3401G>A (p.Gly1134Asp) c.2672G>A (p.Gly891Asp) c.1832G>A (p.Gly611Asp) | dbSNP gnomAD v4 |
| 16 | g.1520616C>A | CA394224718 | IFT140 | c.3646G>T (p.Gly1216Cys) c.1228G>T (p.Gly410Cys) c.*2084G>T (n.*2084G>T) n.3470G>T c.1279G>T (p.Gly427Cys) c.3400G>T (p.Gly1134Cys) c.2671G>T (p.Gly891Cys) c.1831G>T (p.Gly611Cys) | gnomAD v4 |
| 16 | g.1520616C= | CA2201723687 | IFT140 | c.3646G= (p.Gly1216=) c.1228G= (p.Gly410=) c.*2084G= (n.*2084G=) n.3470G= c.1279G= (p.Gly427=) c.3400G= (p.Gly1134=) c.2671G= (p.Gly891=) c.1831G= (p.Gly611=) | |
| 16 | g.1520616C>G | CA394224717 | IFT140 | c.3646G>C (p.Gly1216Arg) c.1228G>C (p.Gly410Arg) c.*2084G>C (n.*2084G>C) n.3470G>C c.1279G>C (p.Gly427Arg) c.3400G>C (p.Gly1134Arg) c.2671G>C (p.Gly891Arg) c.1831G>C (p.Gly611Arg) | |
| 16 | g.1520616C>T | CA7813091 | IFT140 | c.3646G>A (p.Gly1216Ser) c.1228G>A (p.Gly410Ser) c.*2084G>A (n.*2084G>A) n.3470G>A c.1279G>A (p.Gly427Ser) c.3400G>A (p.Gly1134Ser) c.2671G>A (p.Gly891Ser) c.1831G>A (p.Gly611Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520617G>A | CA7813092 | IFT140 | c.3645C>T (p.Ala1215=) c.1227C>T (p.Ala409=) c.*2083C>T (n.*2083C>T) n.3469C>T c.1278C>T (p.Ala426=) c.3399C>T (p.Ala1133=) c.2670C>T (p.Ala890=) c.1830C>T (p.Ala610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520617G>C | CA492931799 | IFT140 | c.3645C>G (p.Ala1215=) c.1227C>G (p.Ala409=) c.*2083C>G (n.*2083C>G) n.3469C>G c.1278C>G (p.Ala426=) c.3399C>G (p.Ala1133=) c.2670C>G (p.Ala890=) c.1830C>G (p.Ala610=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520617G= | CA2201723688 | IFT140 | c.3645C= (p.Ala1215=) c.1227C= (p.Ala409=) c.*2083C= (n.*2083C=) n.3469C= c.1278C= (p.Ala426=) c.3399C= (p.Ala1133=) c.2670C= (p.Ala890=) c.1830C= (p.Ala610=) | |
| 16 | g.1520617G>T | CA492931800 | IFT140 | c.3645C>A (p.Ala1215=) c.1227C>A (p.Ala409=) c.*2083C>A (n.*2083C>A) n.3469C>A c.1278C>A (p.Ala426=) c.3399C>A (p.Ala1133=) c.2670C>A (p.Ala890=) c.1830C>A (p.Ala610=) | gnomAD v4 |
| 16 | g.1520618G>A | CA394224719 | IFT140 | c.3644C>T (p.Ala1215Val) c.1226C>T (p.Ala409Val) c.*2082C>T (n.*2082C>T) n.3468C>T c.1277C>T (p.Ala426Val) c.3398C>T (p.Ala1133Val) c.2669C>T (p.Ala890Val) c.1829C>T (p.Ala610Val) | gnomAD v4 |
| 16 | g.1520618G>C | CA276675861 | IFT140 | c.3644C>G (p.Ala1215Gly) c.1226C>G (p.Ala409Gly) c.*2082C>G (n.*2082C>G) n.3468C>G c.1277C>G (p.Ala426Gly) c.3398C>G (p.Ala1133Gly) c.2669C>G (p.Ala890Gly) c.1829C>G (p.Ala610Gly) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520618G= | CA2201723689 | IFT140 | c.3644C= (p.Ala1215=) c.1226C= (p.Ala409=) c.*2082C= (n.*2082C=) n.3468C= c.1277C= (p.Ala426=) c.3398C= (p.Ala1133=) c.2669C= (p.Ala890=) c.1829C= (p.Ala610=) | |
| 16 | g.1520618G>T | CA394224720 | IFT140 | c.3644C>A (p.Ala1215Asp) c.1226C>A (p.Ala409Asp) c.*2082C>A (n.*2082C>A) n.3468C>A c.1277C>A (p.Ala426Asp) c.3398C>A (p.Ala1133Asp) c.2669C>A (p.Ala890Asp) c.1829C>A (p.Ala610Asp) | gnomAD v4 |
| 16 | g.1520619C>A | CA394224721 | IFT140 | c.3643G>T (p.Ala1215Ser) c.1225G>T (p.Ala409Ser) c.*2081G>T (n.*2081G>T) n.3467G>T c.1276G>T (p.Ala426Ser) c.3397G>T (p.Ala1133Ser) c.2668G>T (p.Ala890Ser) c.1828G>T (p.Ala610Ser) | gnomAD v4 |
| 16 | g.1520619C>G | CA394224722 | IFT140 | c.3643G>C (p.Ala1215Pro) c.1225G>C (p.Ala409Pro) c.*2081G>C (n.*2081G>C) n.3467G>C c.1276G>C (p.Ala426Pro) c.3397G>C (p.Ala1133Pro) c.2668G>C (p.Ala890Pro) c.1828G>C (p.Ala610Pro) | |
| 16 | g.1520619C>T | CA394224723 | IFT140 | c.3643G>A (p.Ala1215Thr) c.1225G>A (p.Ala409Thr) c.*2081G>A (n.*2081G>A) n.3467G>A c.1276G>A (p.Ala426Thr) c.3397G>A (p.Ala1133Thr) c.2668G>A (p.Ala890Thr) c.1828G>A (p.Ala610Thr) | gnomAD v4 |
| 16 | g.1520620C>A | CA394224724 | IFT140 | c.3642G>T (p.Gln1214His) c.1224G>T (p.Gln408His) c.*2080G>T (n.*2080G>T) n.3466G>T c.1275G>T (p.Gln425His) c.3396G>T (p.Gln1132His) c.2667G>T (p.Gln889His) c.1827G>T (p.Gln609His) | gnomAD v4 |
| 16 | g.1520620C>G | CA394224725 | IFT140 | c.3642G>C (p.Gln1214His) c.1224G>C (p.Gln408His) c.*2080G>C (n.*2080G>C) n.3466G>C c.1275G>C (p.Gln425His) c.3396G>C (p.Gln1132His) c.2667G>C (p.Gln889His) c.1827G>C (p.Gln609His) | gnomAD v4 |
| 16 | g.1520620C>T | CA492931801 | IFT140 | c.3642G>A (p.Gln1214=) c.1224G>A (p.Gln408=) c.*2080G>A (n.*2080G>A) n.3466G>A c.1275G>A (p.Gln425=) c.3396G>A (p.Gln1132=) c.2667G>A (p.Gln889=) c.1827G>A (p.Gln609=) | gnomAD v4 |
| 16 | g.1520621T>A | CA394224726 | IFT140 | c.3641A>T (p.Gln1214Leu) c.1223A>T (p.Gln408Leu) c.*2079A>T (n.*2079A>T) n.3465A>T c.1274A>T (p.Gln425Leu) c.3395A>T (p.Gln1132Leu) c.2666A>T (p.Gln889Leu) c.1826A>T (p.Gln609Leu) | gnomAD v4 |
| 16 | g.1520621T>C | CA394224727 | IFT140 | c.3641A>G (p.Gln1214Arg) c.1223A>G (p.Gln408Arg) c.*2079A>G (n.*2079A>G) n.3465A>G c.1274A>G (p.Gln425Arg) c.3395A>G (p.Gln1132Arg) c.2666A>G (p.Gln889Arg) c.1826A>G (p.Gln609Arg) | gnomAD v4 |
| 16 | g.1520621T>G | CA394224728 | IFT140 | c.3641A>C (p.Gln1214Pro) c.1223A>C (p.Gln408Pro) c.*2079A>C (n.*2079A>C) n.3465A>C c.1274A>C (p.Gln425Pro) c.3395A>C (p.Gln1132Pro) c.2666A>C (p.Gln889Pro) c.1826A>C (p.Gln609Pro) | gnomAD v4 |
| 16 | g.1520622G>A | CA394224729 | IFT140 | c.3640C>T (p.Gln1214Ter) c.1222C>T (p.Gln408Ter) c.*2078C>T (n.*2078C>T) n.3464C>T c.1273C>T (p.Gln425Ter) c.3394C>T (p.Gln1132Ter) c.2665C>T (p.Gln889Ter) c.1825C>T (p.Gln609Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520622G>C | CA394224730 | IFT140 | c.3640C>G (p.Gln1214Glu) c.1222C>G (p.Gln408Glu) c.*2078C>G (n.*2078C>G) n.3464C>G c.1273C>G (p.Gln425Glu) c.3394C>G (p.Gln1132Glu) c.2665C>G (p.Gln889Glu) c.1825C>G (p.Gln609Glu) | |
| 16 | g.1520622G>T | CA394224731 | IFT140 | c.3640C>A (p.Gln1214Lys) c.1222C>A (p.Gln408Lys) c.*2078C>A (n.*2078C>A) n.3464C>A c.1273C>A (p.Gln425Lys) c.3394C>A (p.Gln1132Lys) c.2665C>A (p.Gln889Lys) c.1825C>A (p.Gln609Lys) | gnomAD v4 |
| 16 | g.1520623C>A | CA492931805 | IFT140 | c.3639G>T (p.Thr1213=) c.1221G>T (p.Thr407=) c.*2077G>T (n.*2077G>T) n.3463G>T c.1272G>T (p.Thr424=) c.3393G>T (p.Thr1131=) c.2664G>T (p.Thr888=) c.1824G>T (p.Thr608=) | gnomAD v4 |
| 16 | g.1520623C= | CA2201723690 | IFT140 | c.3639G= (p.Thr1213=) c.1221G= (p.Thr407=) c.*2077G= (n.*2077G=) n.3463G= c.1272G= (p.Thr424=) c.3393G= (p.Thr1131=) c.2664G= (p.Thr888=) c.1824G= (p.Thr608=) | |
| 16 | g.1520623C>G | CA492931806 | IFT140 | c.3639G>C (p.Thr1213=) c.1221G>C (p.Thr407=) c.*2077G>C (n.*2077G>C) n.3463G>C c.1272G>C (p.Thr424=) c.3393G>C (p.Thr1131=) c.2664G>C (p.Thr888=) c.1824G>C (p.Thr608=) | |
| 16 | g.1520623C>T | CA7813093 | IFT140 | c.3639G>A (p.Thr1213=) c.1221G>A (p.Thr407=) c.*2077G>A (n.*2077G>A) n.3463G>A c.1272G>A (p.Thr424=) c.3393G>A (p.Thr1131=) c.2664G>A (p.Thr888=) c.1824G>A (p.Thr608=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520624G>A | CA394224734 | IFT140 | c.3638C>T (p.Thr1213Met) c.1220C>T (p.Thr407Met) c.*2076C>T (n.*2076C>T) n.3462C>T c.1271C>T (p.Thr424Met) c.3392C>T (p.Thr1131Met) c.2663C>T (p.Thr888Met) c.1823C>T (p.Thr608Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520624G>C | CA394224732 | IFT140 | c.3638C>G (p.Thr1213Arg) c.1220C>G (p.Thr407Arg) c.*2076C>G (n.*2076C>G) n.3462C>G c.1271C>G (p.Thr424Arg) c.3392C>G (p.Thr1131Arg) c.2663C>G (p.Thr888Arg) c.1823C>G (p.Thr608Arg) | gnomAD v4 |
| 16 | g.1520624G= | CA2201723691 | IFT140 | c.3638C= (p.Thr1213=) c.1220C= (p.Thr407=) c.*2076C= (n.*2076C=) n.3462C= c.1271C= (p.Thr424=) c.3392C= (p.Thr1131=) c.2663C= (p.Thr888=) c.1823C= (p.Thr608=) | |
| 16 | g.1520624G>T | CA394224733 | IFT140 | c.3638C>A (p.Thr1213Lys) c.1220C>A (p.Thr407Lys) c.*2076C>A (n.*2076C>A) n.3462C>A c.1271C>A (p.Thr424Lys) c.3392C>A (p.Thr1131Lys) c.2663C>A (p.Thr888Lys) c.1823C>A (p.Thr608Lys) | gnomAD v4 |
| 16 | g.1520625T>A | CA394224735 | IFT140 | c.3637A>T (p.Thr1213Ser) c.1219A>T (p.Thr407Ser) c.*2075A>T (n.*2075A>T) n.3461A>T c.1270A>T (p.Thr424Ser) c.3391A>T (p.Thr1131Ser) c.2662A>T (p.Thr888Ser) c.1822A>T (p.Thr608Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520625T>C | CA394224736 | IFT140 | c.3637A>G (p.Thr1213Ala) c.1219A>G (p.Thr407Ala) c.*2075A>G (n.*2075A>G) n.3461A>G c.1270A>G (p.Thr424Ala) c.3391A>G (p.Thr1131Ala) c.2662A>G (p.Thr888Ala) c.1822A>G (p.Thr608Ala) | gnomAD v4 |
| 16 | g.1520625T>G | CA394224737 | IFT140 | c.3637A>C (p.Thr1213Pro) c.1219A>C (p.Thr407Pro) c.*2075A>C (n.*2075A>C) n.3461A>C c.1270A>C (p.Thr424Pro) c.3391A>C (p.Thr1131Pro) c.2662A>C (p.Thr888Pro) c.1822A>C (p.Thr608Pro) | |
| 16 | g.1520625T= | CA2201723692 | IFT140 | c.3637A= (p.Thr1213=) c.1219A= (p.Thr407=) c.*2075A= (n.*2075A=) n.3461A= c.1270A= (p.Thr424=) c.3391A= (p.Thr1131=) c.2662A= (p.Thr888=) c.1822A= (p.Thr608=) | |
| 16 | g.1520626G>A | CA492931807 | IFT140 | c.3636C>T (p.Tyr1212=) c.1218C>T (p.Tyr406=) c.*2074C>T (n.*2074C>T) n.3460C>T c.1269C>T (p.Tyr423=) c.3390C>T (p.Tyr1130=) c.2661C>T (p.Tyr887=) c.1821C>T (p.Tyr607=) | dbSNP gnomAD v2 |
| 16 | g.1520626G>C | CA394224738 | IFT140 | c.3636C>G (p.Tyr1212Ter) c.1218C>G (p.Tyr406Ter) c.*2074C>G (n.*2074C>G) n.3460C>G c.1269C>G (p.Tyr423Ter) c.3390C>G (p.Tyr1130Ter) c.2661C>G (p.Tyr887Ter) c.1821C>G (p.Tyr607Ter) | |
| 16 | g.1520626G= | CA2201723693 | IFT140 | c.3636C= (p.Tyr1212=) c.1218C= (p.Tyr406=) c.*2074C= (n.*2074C=) n.3460C= c.1269C= (p.Tyr423=) c.3390C= (p.Tyr1130=) c.2661C= (p.Tyr887=) c.1821C= (p.Tyr607=) | |
| 16 | g.1520626G>T | CA394224739 | IFT140 | c.3636C>A (p.Tyr1212Ter) c.1218C>A (p.Tyr406Ter) c.*2074C>A (n.*2074C>A) n.3460C>A c.1269C>A (p.Tyr423Ter) c.3390C>A (p.Tyr1130Ter) c.2661C>A (p.Tyr887Ter) c.1821C>A (p.Tyr607Ter) | gnomAD v4 |
| 16 | g.1520627T>A | CA394224740 | IFT140 | c.3635A>T (p.Tyr1212Phe) c.1217A>T (p.Tyr406Phe) c.*2073A>T (n.*2073A>T) n.3459A>T c.1268A>T (p.Tyr423Phe) c.3389A>T (p.Tyr1130Phe) c.2660A>T (p.Tyr887Phe) c.1820A>T (p.Tyr607Phe) | |
| 16 | g.1520627T>C | CA394224741 | IFT140 | c.3635A>G (p.Tyr1212Cys) c.1217A>G (p.Tyr406Cys) c.*2073A>G (n.*2073A>G) n.3459A>G c.1268A>G (p.Tyr423Cys) c.3389A>G (p.Tyr1130Cys) c.2660A>G (p.Tyr887Cys) c.1820A>G (p.Tyr607Cys) | gnomAD v4 |
| 16 | g.1520627T>G | CA394224742 | IFT140 | c.3635A>C (p.Tyr1212Ser) c.1217A>C (p.Tyr406Ser) c.*2073A>C (n.*2073A>C) n.3459A>C c.1268A>C (p.Tyr423Ser) c.3389A>C (p.Tyr1130Ser) c.2660A>C (p.Tyr887Ser) c.1820A>C (p.Tyr607Ser) | |
| 16 | g.1520628A>C | CA394224743 | IFT140 | c.3634T>G (p.Tyr1212Asp) c.1216T>G (p.Tyr406Asp) c.*2072T>G (n.*2072T>G) n.3458T>G c.1267T>G (p.Tyr423Asp) c.3388T>G (p.Tyr1130Asp) c.2659T>G (p.Tyr887Asp) c.1819T>G (p.Tyr607Asp) | |
| 16 | g.1520628A>G | CA394224744 | IFT140 | c.3634T>C (p.Tyr1212His) c.1216T>C (p.Tyr406His) c.*2072T>C (n.*2072T>C) n.3458T>C c.1267T>C (p.Tyr423His) c.3388T>C (p.Tyr1130His) c.2659T>C (p.Tyr887His) c.1819T>C (p.Tyr607His) | |
| 16 | g.1520628A>T | CA394224745 | IFT140 | c.3634T>A (p.Tyr1212Asn) c.1216T>A (p.Tyr406Asn) c.*2072T>A (n.*2072T>A) n.3458T>A c.1267T>A (p.Tyr423Asn) c.3388T>A (p.Tyr1130Asn) c.2659T>A (p.Tyr887Asn) c.1819T>A (p.Tyr607Asn) | |
| 16 | g.1520629C>A | CA394224746 | IFT140 | c.3633G>T (p.Lys1211Asn) c.1215G>T (p.Lys405Asn) c.*2071G>T (n.*2071G>T) n.3457G>T c.1266G>T (p.Lys422Asn) c.3387G>T (p.Lys1129Asn) c.2658G>T (p.Lys886Asn) c.1818G>T (p.Lys606Asn) | gnomAD v4 |
| 16 | g.1520629C= | CA2201723694 | IFT140 | c.3633G= (p.Lys1211=) c.1215G= (p.Lys405=) c.*2071G= (n.*2071G=) n.3457G= c.1266G= (p.Lys422=) c.3387G= (p.Lys1129=) c.2658G= (p.Lys886=) c.1818G= (p.Lys606=) | |
| 16 | g.1520629C>G | CA7813094 | IFT140 | c.3633G>C (p.Lys1211Asn) c.1215G>C (p.Lys405Asn) c.*2071G>C (n.*2071G>C) n.3457G>C c.1266G>C (p.Lys422Asn) c.3387G>C (p.Lys1129Asn) c.2658G>C (p.Lys886Asn) c.1818G>C (p.Lys606Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520629C>T | CA492931809 | IFT140 | c.3633G>A (p.Lys1211=) c.1215G>A (p.Lys405=) c.*2071G>A (n.*2071G>A) n.3457G>A c.1266G>A (p.Lys422=) c.3387G>A (p.Lys1129=) c.2658G>A (p.Lys886=) c.1818G>A (p.Lys606=) | gnomAD v4 |
| 16 | g.1520630T>A | CA394224747 | IFT140 | c.3632A>T (p.Lys1211Met) c.1214A>T (p.Lys405Met) c.*2070A>T (n.*2070A>T) n.3456A>T c.1265A>T (p.Lys422Met) c.3386A>T (p.Lys1129Met) c.2657A>T (p.Lys886Met) c.1817A>T (p.Lys606Met) | |
| 16 | g.1520630T>C | CA394224748 | IFT140 | c.3632A>G (p.Lys1211Arg) c.1214A>G (p.Lys405Arg) c.*2070A>G (n.*2070A>G) n.3456A>G c.1265A>G (p.Lys422Arg) c.3386A>G (p.Lys1129Arg) c.2657A>G (p.Lys886Arg) c.1817A>G (p.Lys606Arg) | |
| 16 | g.1520630T>G | CA394224749 | IFT140 | c.3632A>C (p.Lys1211Thr) c.1214A>C (p.Lys405Thr) c.*2070A>C (n.*2070A>C) n.3456A>C c.1265A>C (p.Lys422Thr) c.3386A>C (p.Lys1129Thr) c.2657A>C (p.Lys886Thr) c.1817A>C (p.Lys606Thr) | |
| 16 | g.1520631T>A | CA394224750 | IFT140 | c.3631A>T (p.Lys1211Ter) c.1213A>T (p.Lys405Ter) c.*2069A>T (n.*2069A>T) n.3455A>T c.1264A>T (p.Lys422Ter) c.3385A>T (p.Lys1129Ter) c.2656A>T (p.Lys886Ter) c.1816A>T (p.Lys606Ter) | |
| 16 | g.1520631T>C | CA394224751 | IFT140 | c.3631A>G (p.Lys1211Glu) c.1213A>G (p.Lys405Glu) c.*2069A>G (n.*2069A>G) n.3455A>G c.1264A>G (p.Lys422Glu) c.3385A>G (p.Lys1129Glu) c.2656A>G (p.Lys886Glu) c.1816A>G (p.Lys606Glu) | gnomAD v4 |
| 16 | g.1520631T>G | CA394224752 | IFT140 | c.3631A>C (p.Lys1211Gln) c.1213A>C (p.Lys405Gln) c.*2069A>C (n.*2069A>C) n.3455A>C c.1264A>C (p.Lys422Gln) c.3385A>C (p.Lys1129Gln) c.2656A>C (p.Lys886Gln) c.1816A>C (p.Lys606Gln) | |
| 16 | g.1520632C>A | CA394224754 | IFT140 | c.3630G>T (p.Lys1210Asn) c.1212G>T (p.Lys404Asn) c.*2068G>T (n.*2068G>T) n.3454G>T c.1263G>T (p.Lys421Asn) c.3384G>T (p.Lys1128Asn) c.2655G>T (p.Lys885Asn) c.1815G>T (p.Lys605Asn) | |
| 16 | g.1520632C>G | CA394224753 | IFT140 | c.3630G>C (p.Lys1210Asn) c.1212G>C (p.Lys404Asn) c.*2068G>C (n.*2068G>C) n.3454G>C c.1263G>C (p.Lys421Asn) c.3384G>C (p.Lys1128Asn) c.2655G>C (p.Lys885Asn) c.1815G>C (p.Lys605Asn) | |
| 16 | g.1520632C>T | CA492931811 | IFT140 | c.3630G>A (p.Lys1210=) c.1212G>A (p.Lys404=) c.*2068G>A (n.*2068G>A) n.3454G>A c.1263G>A (p.Lys421=) c.3384G>A (p.Lys1128=) c.2655G>A (p.Lys885=) c.1815G>A (p.Lys605=) | |
| 16 | g.1520633T>A | CA394224755 | IFT140 | c.3629A>T (p.Lys1210Met) c.1211A>T (p.Lys404Met) c.*2067A>T (n.*2067A>T) n.3453A>T c.1262A>T (p.Lys421Met) c.3383A>T (p.Lys1128Met) c.2654A>T (p.Lys885Met) c.1814A>T (p.Lys605Met) | |
| 16 | g.1520633T>C | CA394224756 | IFT140 | c.3629A>G (p.Lys1210Arg) c.1211A>G (p.Lys404Arg) c.*2067A>G (n.*2067A>G) n.3453A>G c.1262A>G (p.Lys421Arg) c.3383A>G (p.Lys1128Arg) c.2654A>G (p.Lys885Arg) c.1814A>G (p.Lys605Arg) | |
| 16 | g.1520633T>G | CA7813095 | IFT140 | c.3629A>C (p.Lys1210Thr) c.1211A>C (p.Lys404Thr) c.*2067A>C (n.*2067A>C) n.3453A>C c.1262A>C (p.Lys421Thr) c.3383A>C (p.Lys1128Thr) c.2654A>C (p.Lys885Thr) c.1814A>C (p.Lys605Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520633T= | CA2201723695 | IFT140 | c.3629A= (p.Lys1210=) c.1211A= (p.Lys404=) c.*2067A= (n.*2067A=) n.3453A= c.1262A= (p.Lys421=) c.3383A= (p.Lys1128=) c.2654A= (p.Lys885=) c.1814A= (p.Lys605=) | |
| 16 | g.1520634T>A | CA394224757 | IFT140 | c.3628A>T (p.Lys1210Ter) c.1210A>T (p.Lys404Ter) c.*2066A>T (n.*2066A>T) n.3452A>T c.1261A>T (p.Lys421Ter) c.3382A>T (p.Lys1128Ter) c.2653A>T (p.Lys885Ter) c.1813A>T (p.Lys605Ter) | |
| 16 | g.1520634T>C | CA394224758 | IFT140 | c.3628A>G (p.Lys1210Glu) c.1210A>G (p.Lys404Glu) c.*2066A>G (n.*2066A>G) n.3452A>G c.1261A>G (p.Lys421Glu) c.3382A>G (p.Lys1128Glu) c.2653A>G (p.Lys885Glu) c.1813A>G (p.Lys605Glu) | |
| 16 | g.1520634T>G | CA394224759 | IFT140 | c.3628A>C (p.Lys1210Gln) c.1210A>C (p.Lys404Gln) c.*2066A>C (n.*2066A>C) n.3452A>C c.1261A>C (p.Lys421Gln) c.3382A>C (p.Lys1128Gln) c.2653A>C (p.Lys885Gln) c.1813A>C (p.Lys605Gln) | |
| 16 | g.1520635G>A | CA492931814 | IFT140 | c.3627C>T (p.Thr1209=) c.1209C>T (p.Thr403=) c.*2065C>T (n.*2065C>T) n.3451C>T c.1260C>T (p.Thr420=) c.3381C>T (p.Thr1127=) c.2652C>T (p.Thr884=) c.1812C>T (p.Thr604=) | |
| 16 | g.1520635G>C | CA492931813 | IFT140 | c.3627C>G (p.Thr1209=) c.1209C>G (p.Thr403=) c.*2065C>G (n.*2065C>G) n.3451C>G c.1260C>G (p.Thr420=) c.3381C>G (p.Thr1127=) c.2652C>G (p.Thr884=) c.1812C>G (p.Thr604=) | |
| 16 | g.1520635G>T | CA492931812 | IFT140 | c.3627C>A (p.Thr1209=) c.1209C>A (p.Thr403=) c.*2065C>A (n.*2065C>A) n.3451C>A c.1260C>A (p.Thr420=) c.3381C>A (p.Thr1127=) c.2652C>A (p.Thr884=) c.1812C>A (p.Thr604=) | gnomAD v4 |
| 16 | g.1520636G>A | CA394224760 | IFT140 | c.3626C>T (p.Thr1209Ile) c.1208C>T (p.Thr403Ile) c.*2064C>T (n.*2064C>T) n.3450C>T c.1259C>T (p.Thr420Ile) c.3380C>T (p.Thr1127Ile) c.2651C>T (p.Thr884Ile) c.1811C>T (p.Thr604Ile) | gnomAD v4 |
| 16 | g.1520636G>C | CA394224762 | IFT140 | c.3626C>G (p.Thr1209Ser) c.1208C>G (p.Thr403Ser) c.*2064C>G (n.*2064C>G) n.3450C>G c.1259C>G (p.Thr420Ser) c.3380C>G (p.Thr1127Ser) c.2651C>G (p.Thr884Ser) c.1811C>G (p.Thr604Ser) | |
| 16 | g.1520636G>T | CA394224761 | IFT140 | c.3626C>A (p.Thr1209Asn) c.1208C>A (p.Thr403Asn) c.*2064C>A (n.*2064C>A) n.3450C>A c.1259C>A (p.Thr420Asn) c.3380C>A (p.Thr1127Asn) c.2651C>A (p.Thr884Asn) c.1811C>A (p.Thr604Asn) | |
| 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.1520647del | CA2805558983 | IFT140 | c.3616del (p.His1206ThrfsTer14) c.1198del (p.His400ThrfsTer14) c.*2054del (n.*2054del) n.3440del c.1249del (p.His417ThrfsTer14) c.3370del (p.His1124ThrfsTer14) c.2641del (p.His881ThrfsTer14) c.1801del (p.His601ThrfsTer14) | |
| 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) | |
| 16 | g.1520650G>A | CA492931831 | IFT140 | c.3612C>T (p.Ser1204=) c.1194C>T (p.Ser398=) c.*2050C>T (n.*2050C>T) n.3436C>T c.1245C>T (p.Ser415=) c.3366C>T (p.Ser1122=) c.2637C>T (p.Ser879=) c.1797C>T (p.Ser599=) | |
| 16 | g.1520650G>C | CA394224790 | IFT140 | c.3612C>G (p.Ser1204Arg) c.1194C>G (p.Ser398Arg) c.*2050C>G (n.*2050C>G) n.3436C>G c.1245C>G (p.Ser415Arg) c.3366C>G (p.Ser1122Arg) c.2637C>G (p.Ser879Arg) c.1797C>G (p.Ser599Arg) | |
| 16 | g.1520650G>T | CA394224791 | IFT140 | c.3612C>A (p.Ser1204Arg) c.1194C>A (p.Ser398Arg) c.*2050C>A (n.*2050C>A) n.3436C>A c.1245C>A (p.Ser415Arg) c.3366C>A (p.Ser1122Arg) c.2637C>A (p.Ser879Arg) c.1797C>A (p.Ser599Arg) | gnomAD v4 |
| 16 | g.1520651C>A | CA394224792 | IFT140 | c.3611G>T (p.Ser1204Ile) c.1193G>T (p.Ser398Ile) c.*2049G>T (n.*2049G>T) n.3435G>T c.1244G>T (p.Ser415Ile) c.3365G>T (p.Ser1122Ile) c.2636G>T (p.Ser879Ile) c.1796G>T (p.Ser599Ile) | |
| 16 | g.1520651C= | CA2201723704 | IFT140 | c.3611G= (p.Ser1204=) c.1193G= (p.Ser398=) c.*2049G= (n.*2049G=) n.3435G= c.1244G= (p.Ser415=) c.3365G= (p.Ser1122=) c.2636G= (p.Ser879=) c.1796G= (p.Ser599=) | |
| 16 | g.1520651C>G | CA394224793 | IFT140 | c.3611G>C (p.Ser1204Thr) c.1193G>C (p.Ser398Thr) c.*2049G>C (n.*2049G>C) n.3435G>C c.1244G>C (p.Ser415Thr) c.3365G>C (p.Ser1122Thr) c.2636G>C (p.Ser879Thr) c.1796G>C (p.Ser599Thr) | |
| 16 | g.1520651C>T | CA7813097 | IFT140 | c.3611G>A (p.Ser1204Asn) c.1193G>A (p.Ser398Asn) c.*2049G>A (n.*2049G>A) n.3435G>A c.1244G>A (p.Ser415Asn) c.3365G>A (p.Ser1122Asn) c.2636G>A (p.Ser879Asn) c.1796G>A (p.Ser599Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.1520652T>A | CA394224794 | IFT140 | c.3610A>T (p.Ser1204Cys) c.1192A>T (p.Ser398Cys) c.*2048A>T (n.*2048A>T) n.3434A>T c.1243A>T (p.Ser415Cys) c.3364A>T (p.Ser1122Cys) c.2635A>T (p.Ser879Cys) c.1795A>T (p.Ser599Cys) | |
| 16 | g.1520652T>C | CA394224795 | IFT140 | c.3610A>G (p.Ser1204Gly) c.1192A>G (p.Ser398Gly) c.*2048A>G (n.*2048A>G) n.3434A>G c.1243A>G (p.Ser415Gly) c.3364A>G (p.Ser1122Gly) c.2635A>G (p.Ser879Gly) c.1795A>G (p.Ser599Gly) | dbSNP |
| 16 | g.1520652T>G | CA394224796 | IFT140 | c.3610A>C (p.Ser1204Arg) c.1192A>C (p.Ser398Arg) c.*2048A>C (n.*2048A>C) n.3434A>C c.1243A>C (p.Ser415Arg) c.3364A>C (p.Ser1122Arg) c.2635A>C (p.Ser879Arg) c.1795A>C (p.Ser599Arg) | |
| 16 | g.1520652T= | CA2201723705 | IFT140 | c.3610A= (p.Ser1204=) c.1192A= (p.Ser398=) c.*2048A= (n.*2048A=) n.3434A= c.1243A= (p.Ser415=) c.3364A= (p.Ser1122=) c.2635A= (p.Ser879=) c.1795A= (p.Ser599=) | |
| 16 | g.1520653G>A | CA492931834 | IFT140 | c.3609C>T (p.Gly1203=) c.1191C>T (p.Gly397=) c.*2047C>T (n.*2047C>T) n.3433C>T c.1242C>T (p.Gly414=) c.3363C>T (p.Gly1121=) c.2634C>T (p.Gly878=) c.1794C>T (p.Gly598=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520653G>C | CA492931836 | IFT140 | c.3609C>G (p.Gly1203=) c.1191C>G (p.Gly397=) c.*2047C>G (n.*2047C>G) n.3433C>G c.1242C>G (p.Gly414=) c.3363C>G (p.Gly1121=) c.2634C>G (p.Gly878=) c.1794C>G (p.Gly598=) | |
| 16 | g.1520653G= | CA2201723706 | IFT140 | c.3609C= (p.Gly1203=) c.1191C= (p.Gly397=) c.*2047C= (n.*2047C=) n.3433C= c.1242C= (p.Gly414=) c.3363C= (p.Gly1121=) c.2634C= (p.Gly878=) c.1794C= (p.Gly598=) | |
| 16 | g.1520653G>T | CA492931837 | IFT140 | c.3609C>A (p.Gly1203=) c.1191C>A (p.Gly397=) c.*2047C>A (n.*2047C>A) n.3433C>A c.1242C>A (p.Gly414=) c.3363C>A (p.Gly1121=) c.2634C>A (p.Gly878=) c.1794C>A (p.Gly598=) | |
| 16 | g.1520654C>A | CA394224797 | IFT140 | c.3608G>T (p.Gly1203Val) c.1190G>T (p.Gly397Val) c.*2046G>T (n.*2046G>T) n.3432G>T c.1241G>T (p.Gly414Val) c.3362G>T (p.Gly1121Val) c.2633G>T (p.Gly878Val) c.1793G>T (p.Gly598Val) | |
| 16 | g.1520654C>G | CA394224798 | IFT140 | c.3608G>C (p.Gly1203Ala) c.1190G>C (p.Gly397Ala) c.*2046G>C (n.*2046G>C) n.3432G>C c.1241G>C (p.Gly414Ala) c.3362G>C (p.Gly1121Ala) c.2633G>C (p.Gly878Ala) c.1793G>C (p.Gly598Ala) | |
| 16 | g.1520654C>T | CA394224799 | IFT140 | c.3608G>A (p.Gly1203Asp) c.1190G>A (p.Gly397Asp) c.*2046G>A (n.*2046G>A) n.3432G>A c.1241G>A (p.Gly414Asp) c.3362G>A (p.Gly1121Asp) c.2633G>A (p.Gly878Asp) c.1793G>A (p.Gly598Asp) | |
| 16 | g.1520656del | CA2631006452 | IFT140 | c.3608del (p.Gly1203AlafsTer17) c.1190del (p.Gly397AlafsTer17) c.*2046del (n.*2046del) n.3432del c.1241del (p.Gly414AlafsTer17) c.3362del (p.Gly1121AlafsTer17) c.2633del (p.Gly878AlafsTer17) c.1793del (p.Gly598AlafsTer17) | gnomAD v4 |
| 16 | g.1520655C>A | CA394224802 | IFT140 | c.3607G>T (p.Gly1203Cys) c.1189G>T (p.Gly397Cys) c.*2045G>T (n.*2045G>T) n.3431G>T c.1240G>T (p.Gly414Cys) c.3361G>T (p.Gly1121Cys) c.2632G>T (p.Gly878Cys) c.1792G>T (p.Gly598Cys) | |
| 16 | g.1520655C= | CA2201723707 | IFT140 | c.3607G= (p.Gly1203=) c.1189G= (p.Gly397=) c.*2045G= (n.*2045G=) n.3431G= c.1240G= (p.Gly414=) c.3361G= (p.Gly1121=) c.2632G= (p.Gly878=) c.1792G= (p.Gly598=) | |
| 16 | g.1520655C>G | CA394224801 | IFT140 | c.3607G>C (p.Gly1203Arg) c.1189G>C (p.Gly397Arg) c.*2045G>C (n.*2045G>C) n.3431G>C c.1240G>C (p.Gly414Arg) c.3361G>C (p.Gly1121Arg) c.2632G>C (p.Gly878Arg) c.1792G>C (p.Gly598Arg) | |
| 16 | g.1520655C>T | CA394224800 | IFT140 | c.3607G>A (p.Gly1203Ser) c.1189G>A (p.Gly397Ser) c.*2045G>A (n.*2045G>A) n.3431G>A c.1240G>A (p.Gly414Ser) c.3361G>A (p.Gly1121Ser) c.2632G>A (p.Gly878Ser) c.1792G>A (p.Gly598Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520656C>A | CA394224803 | IFT140 | c.3606G>T (p.Gln1202His) c.1188G>T (p.Gln396His) c.*2044G>T (n.*2044G>T) n.3430G>T c.1239G>T (p.Gln413His) c.3360G>T (p.Gln1120His) c.2631G>T (p.Gln877His) c.1791G>T (p.Gln597His) | COSMIC |
| 16 | g.1520656C= | CA2201723708 | IFT140 | c.3606G= (p.Gln1202=) c.1188G= (p.Gln396=) c.*2044G= (n.*2044G=) n.3430G= c.1239G= (p.Gln413=) c.3360G= (p.Gln1120=) c.2631G= (p.Gln877=) c.1791G= (p.Gln597=) | |
| 16 | g.1520656C>G | CA394224804 | IFT140 | c.3606G>C (p.Gln1202His) c.1188G>C (p.Gln396His) c.*2044G>C (n.*2044G>C) n.3430G>C c.1239G>C (p.Gln413His) c.3360G>C (p.Gln1120His) c.2631G>C (p.Gln877His) c.1791G>C (p.Gln597His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520656C>T | CA492931838 | IFT140 | c.3606G>A (p.Gln1202=) c.1188G>A (p.Gln396=) c.*2044G>A (n.*2044G>A) n.3430G>A c.1239G>A (p.Gln413=) c.3360G>A (p.Gln1120=) c.2631G>A (p.Gln877=) c.1791G>A (p.Gln597=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520657T>A | CA394224805 | IFT140 | c.3605A>T (p.Gln1202Leu) c.1187A>T (p.Gln396Leu) c.*2043A>T (n.*2043A>T) n.3429A>T c.1238A>T (p.Gln413Leu) c.3359A>T (p.Gln1120Leu) c.2630A>T (p.Gln877Leu) c.1790A>T (p.Gln597Leu) | |
| 16 | g.1520657T>C | CA394224806 | IFT140 | c.3605A>G (p.Gln1202Arg) c.1187A>G (p.Gln396Arg) c.*2043A>G (n.*2043A>G) n.3429A>G c.1238A>G (p.Gln413Arg) c.3359A>G (p.Gln1120Arg) c.2630A>G (p.Gln877Arg) c.1790A>G (p.Gln597Arg) | |
| 16 | g.1520657T>G | CA394224807 | IFT140 | c.3605A>C (p.Gln1202Pro) c.1187A>C (p.Gln396Pro) c.*2043A>C (n.*2043A>C) n.3429A>C c.1238A>C (p.Gln413Pro) c.3359A>C (p.Gln1120Pro) c.2630A>C (p.Gln877Pro) c.1790A>C (p.Gln597Pro) | |
| 16 | g.1520658G>A | CA394224810 | IFT140 | c.3604C>T (p.Gln1202Ter) c.1186C>T (p.Gln396Ter) c.*2042C>T (n.*2042C>T) n.3428C>T c.1237C>T (p.Gln413Ter) c.3358C>T (p.Gln1120Ter) c.2629C>T (p.Gln877Ter) c.1789C>T (p.Gln597Ter) | gnomAD v4 |
| 16 | g.1520658G>C | CA394224809 | IFT140 | c.3604C>G (p.Gln1202Glu) c.1186C>G (p.Gln396Glu) c.*2042C>G (n.*2042C>G) n.3428C>G c.1237C>G (p.Gln413Glu) c.3358C>G (p.Gln1120Glu) c.2629C>G (p.Gln877Glu) c.1789C>G (p.Gln597Glu) | |
| 16 | g.1520658G>T | CA394224808 | IFT140 | c.3604C>A (p.Gln1202Lys) c.1186C>A (p.Gln396Lys) c.*2042C>A (n.*2042C>A) n.3428C>A c.1237C>A (p.Gln413Lys) c.3358C>A (p.Gln1120Lys) c.2629C>A (p.Gln877Lys) c.1789C>A (p.Gln597Lys) | |
| 16 | g.1520659G>A | CA492931842 | IFT140 | c.3603C>T (p.Arg1201=) c.1185C>T (p.Arg395=) c.*2041C>T (n.*2041C>T) n.3427C>T c.1236C>T (p.Arg412=) c.3357C>T (p.Arg1119=) c.2628C>T (p.Arg876=) c.1788C>T (p.Arg596=) | |
| 16 | g.1520659G>C | CA492931840 | IFT140 | c.3603C>G (p.Arg1201=) c.1185C>G (p.Arg395=) c.*2041C>G (n.*2041C>G) n.3427C>G c.1236C>G (p.Arg412=) c.3357C>G (p.Arg1119=) c.2628C>G (p.Arg876=) c.1788C>G (p.Arg596=) | |
| 16 | g.1520659G>T | CA492931841 | IFT140 | c.3603C>A (p.Arg1201=) c.1185C>A (p.Arg395=) c.*2041C>A (n.*2041C>A) n.3427C>A c.1236C>A (p.Arg412=) c.3357C>A (p.Arg1119=) c.2628C>A (p.Arg876=) c.1788C>A (p.Arg596=) | |
| 16 | g.1520660C>A | CA394224811 | IFT140 | c.3602G>T (p.Arg1201Leu) c.1184G>T (p.Arg395Leu) c.*2040G>T (n.*2040G>T) n.3426G>T c.1235G>T (p.Arg412Leu) c.3356G>T (p.Arg1119Leu) c.2627G>T (p.Arg876Leu) c.1787G>T (p.Arg596Leu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520660C= | CA2201723709 | IFT140 | c.3602G= (p.Arg1201=) c.1184G= (p.Arg395=) c.*2040G= (n.*2040G=) n.3426G= c.1235G= (p.Arg412=) c.3356G= (p.Arg1119=) c.2627G= (p.Arg876=) c.1787G= (p.Arg596=) | |
| 16 | g.1520660C>G | CA394224812 | IFT140 | c.3602G>C (p.Arg1201Pro) c.1184G>C (p.Arg395Pro) c.*2040G>C (n.*2040G>C) n.3426G>C c.1235G>C (p.Arg412Pro) c.3356G>C (p.Arg1119Pro) c.2627G>C (p.Arg876Pro) c.1787G>C (p.Arg596Pro) | |
| 16 | g.1520660C>T | CA7813098 | IFT140 | c.3602G>A (p.Arg1201His) c.1184G>A (p.Arg395His) c.*2040G>A (n.*2040G>A) n.3426G>A c.1235G>A (p.Arg412His) c.3356G>A (p.Arg1119His) c.2627G>A (p.Arg876His) c.1787G>A (p.Arg596His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520661G>A | CA7813099 | IFT140 | c.3601C>T (p.Arg1201Cys) c.1183C>T (p.Arg395Cys) c.*2039C>T (n.*2039C>T) n.3425C>T c.1234C>T (p.Arg412Cys) c.3355C>T (p.Arg1119Cys) c.2626C>T (p.Arg876Cys) c.1786C>T (p.Arg596Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520661G>C | CA394224813 | IFT140 | c.3601C>G (p.Arg1201Gly) c.1183C>G (p.Arg395Gly) c.*2039C>G (n.*2039C>G) n.3425C>G c.1234C>G (p.Arg412Gly) c.3355C>G (p.Arg1119Gly) c.2626C>G (p.Arg876Gly) c.1786C>G (p.Arg596Gly) | |
| 16 | g.1520661G= | CA2201723710 | IFT140 | c.3601C= (p.Arg1201=) c.1183C= (p.Arg395=) c.*2039C= (n.*2039C=) n.3425C= c.1234C= (p.Arg412=) c.3355C= (p.Arg1119=) c.2626C= (p.Arg876=) c.1786C= (p.Arg596=) | |
| 16 | g.1520661G>T | CA394224814 | IFT140 | c.3601C>A (p.Arg1201Ser) c.1183C>A (p.Arg395Ser) c.*2039C>A (n.*2039C>A) n.3425C>A c.1234C>A (p.Arg412Ser) c.3355C>A (p.Arg1119Ser) c.2626C>A (p.Arg876Ser) c.1786C>A (p.Arg596Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520662C>A | CA394224815 | IFT140 | c.3600G>T (p.Met1200Ile) c.1182G>T (p.Met394Ile) c.*2038G>T (n.*2038G>T) n.3424G>T c.1233G>T (p.Met411Ile) c.3354G>T (p.Met1118Ile) c.2625G>T (p.Met875Ile) c.1785G>T (p.Met595Ile) | |
| 16 | g.1520662C>G | CA394224817 | IFT140 | c.3600G>C (p.Met1200Ile) c.1182G>C (p.Met394Ile) c.*2038G>C (n.*2038G>C) n.3424G>C c.1233G>C (p.Met411Ile) c.3354G>C (p.Met1118Ile) c.2625G>C (p.Met875Ile) c.1785G>C (p.Met595Ile) | |
| 16 | g.1520662C>T | CA394224816 | IFT140 | c.3600G>A (p.Met1200Ile) c.1182G>A (p.Met394Ile) c.*2038G>A (n.*2038G>A) n.3424G>A c.1233G>A (p.Met411Ile) c.3354G>A (p.Met1118Ile) c.2625G>A (p.Met875Ile) c.1785G>A (p.Met595Ile) | gnomAD v4 |
| 16 | g.1520663A= | CA2201723711 | IFT140 | c.3599T= (p.Met1200=) c.1181T= (p.Met394=) c.*2037T= (n.*2037T=) n.3423T= c.1232T= (p.Met411=) c.3353T= (p.Met1118=) c.2624T= (p.Met875=) c.1784T= (p.Met595=) | |
| 16 | g.1520663A>C | CA394224818 | IFT140 | c.3599T>G (p.Met1200Arg) c.1181T>G (p.Met394Arg) c.*2037T>G (n.*2037T>G) n.3423T>G c.1232T>G (p.Met411Arg) c.3353T>G (p.Met1118Arg) c.2624T>G (p.Met875Arg) c.1784T>G (p.Met595Arg) | |
| 16 | g.1520663A>G | CA7813100 | IFT140 | c.3599T>C (p.Met1200Thr) c.1181T>C (p.Met394Thr) c.*2037T>C (n.*2037T>C) n.3423T>C c.1232T>C (p.Met411Thr) c.3353T>C (p.Met1118Thr) c.2624T>C (p.Met875Thr) c.1784T>C (p.Met595Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520663A>T | CA394224819 | IFT140 | c.3599T>A (p.Met1200Lys) c.1181T>A (p.Met394Lys) c.*2037T>A (n.*2037T>A) n.3423T>A c.1232T>A (p.Met411Lys) c.3353T>A (p.Met1118Lys) c.2624T>A (p.Met875Lys) c.1784T>A (p.Met595Lys) | |
| 16 | g.1520663_1520664del | CA2805558984 | IFT140 | c.3598_3599del (p.Met1200AlafsTer?) c.1180_1181del (p.Met394AlafsTer?) c.*2036_*2037del (n.*2036_*2037del) n.3422_3423del c.1231_1232del (p.Met411AlafsTer?) c.3352_3353del (p.Met1118AlafsTer?) c.2623_2624del (p.Met875AlafsTer?) c.1783_1784del (p.Met595AlafsTer?) | |
| 16 | g.1520664T>A | CA394224820 | IFT140 | c.3598A>T (p.Met1200Leu) c.1180A>T (p.Met394Leu) c.*2036A>T (n.*2036A>T) n.3422A>T c.1231A>T (p.Met411Leu) c.3352A>T (p.Met1118Leu) c.2623A>T (p.Met875Leu) c.1783A>T (p.Met595Leu) | |
| 16 | g.1520664T>C | CA7813102 | IFT140 | c.3598A>G (p.Met1200Val) c.1180A>G (p.Met394Val) c.*2036A>G (n.*2036A>G) n.3422A>G c.1231A>G (p.Met411Val) c.3352A>G (p.Met1118Val) c.2623A>G (p.Met875Val) c.1783A>G (p.Met595Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520664T>G | CA7813101 | IFT140 | c.3598A>C (p.Met1200Leu) c.1180A>C (p.Met394Leu) c.*2036A>C (n.*2036A>C) n.3422A>C c.1231A>C (p.Met411Leu) c.3352A>C (p.Met1118Leu) c.2623A>C (p.Met875Leu) c.1783A>C (p.Met595Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520664T= | CA2201723712 | IFT140 | c.3598A= (p.Met1200=) c.1180A= (p.Met394=) c.*2036A= (n.*2036A=) n.3422A= c.1231A= (p.Met411=) c.3352A= (p.Met1118=) c.2623A= (p.Met875=) c.1783A= (p.Met595=) | |
| 16 | g.1520665G>A | CA492931844 | IFT140 | c.3597C>T (p.Cys1199=) c.1179C>T (p.Cys393=) c.*2035C>T (n.*2035C>T) n.3421C>T c.1230C>T (p.Cys410=) c.3351C>T (p.Cys1117=) c.2622C>T (p.Cys874=) c.1782C>T (p.Cys594=) | |
| 16 | g.1520665G>C | CA394224821 | IFT140 | c.3597C>G (p.Cys1199Trp) c.1179C>G (p.Cys393Trp) c.*2035C>G (n.*2035C>G) n.3421C>G c.1230C>G (p.Cys410Trp) c.3351C>G (p.Cys1117Trp) c.2622C>G (p.Cys874Trp) c.1782C>G (p.Cys594Trp) | |
| 16 | g.1520665G>T | CA394224822 | IFT140 | c.3597C>A (p.Cys1199Ter) c.1179C>A (p.Cys393Ter) c.*2035C>A (n.*2035C>A) n.3421C>A c.1230C>A (p.Cys410Ter) c.3351C>A (p.Cys1117Ter) c.2622C>A (p.Cys874Ter) c.1782C>A (p.Cys594Ter) | |
| 16 | g.1520666C>A | CA394224823 | IFT140 | c.3596G>T (p.Cys1199Phe) c.1178G>T (p.Cys393Phe) c.*2034G>T (n.*2034G>T) n.3420G>T c.1229G>T (p.Cys410Phe) c.3350G>T (p.Cys1117Phe) c.2621G>T (p.Cys874Phe) c.1781G>T (p.Cys594Phe) | |
| 16 | g.1520666C= | CA2201723713 | IFT140 | c.3596G= (p.Cys1199=) c.1178G= (p.Cys393=) c.*2034G= (n.*2034G=) n.3420G= c.1229G= (p.Cys410=) c.3350G= (p.Cys1117=) c.2621G= (p.Cys874=) c.1781G= (p.Cys594=) | |
| 16 | g.1520666C>G | CA394224824 | IFT140 | c.3596G>C (p.Cys1199Ser) c.1178G>C (p.Cys393Ser) c.*2034G>C (n.*2034G>C) n.3420G>C c.1229G>C (p.Cys410Ser) c.3350G>C (p.Cys1117Ser) c.2621G>C (p.Cys874Ser) c.1781G>C (p.Cys594Ser) | gnomAD v4 |
| 16 | g.1520666C>T | CA7813103 | IFT140 | c.3596G>A (p.Cys1199Tyr) c.1178G>A (p.Cys393Tyr) c.*2034G>A (n.*2034G>A) n.3420G>A c.1229G>A (p.Cys410Tyr) c.3350G>A (p.Cys1117Tyr) c.2621G>A (p.Cys874Tyr) c.1781G>A (p.Cys594Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520667A>C | CA394224826 | IFT140 | c.3595T>G (p.Cys1199Gly) c.1177T>G (p.Cys393Gly) c.*2033T>G (n.*2033T>G) n.3419T>G c.1228T>G (p.Cys410Gly) c.3349T>G (p.Cys1117Gly) c.2620T>G (p.Cys874Gly) c.1780T>G (p.Cys594Gly) | |
| 16 | g.1520667A>G | CA394224827 | IFT140 | c.3595T>C (p.Cys1199Arg) c.1177T>C (p.Cys393Arg) c.*2033T>C (n.*2033T>C) n.3419T>C c.1228T>C (p.Cys410Arg) c.3349T>C (p.Cys1117Arg) c.2620T>C (p.Cys874Arg) c.1780T>C (p.Cys594Arg) | gnomAD v4 |
| 16 | g.1520667A>T | CA394224825 | IFT140 | c.3595T>A (p.Cys1199Ser) c.1177T>A (p.Cys393Ser) c.*2033T>A (n.*2033T>A) n.3419T>A c.1228T>A (p.Cys410Ser) c.3349T>A (p.Cys1117Ser) c.2620T>A (p.Cys874Ser) c.1780T>A (p.Cys594Ser) | |
| 16 | g.1520668G>A | CA492931846 | IFT140 | c.3594C>T (p.Cys1198=) c.1176C>T (p.Cys392=) c.*2032C>T (n.*2032C>T) n.3418C>T c.1227C>T (p.Cys409=) c.3348C>T (p.Cys1116=) c.2619C>T (p.Cys873=) c.1779C>T (p.Cys593=) | dbSNP |
| 16 | g.1520668G>C | CA394224829 | IFT140 | c.3594C>G (p.Cys1198Trp) c.1176C>G (p.Cys392Trp) c.*2032C>G (n.*2032C>G) n.3418C>G c.1227C>G (p.Cys409Trp) c.3348C>G (p.Cys1116Trp) c.2619C>G (p.Cys873Trp) c.1779C>G (p.Cys593Trp) | |
| 16 | g.1520668G= | CA2201723714 | IFT140 | c.3594C= (p.Cys1198=) c.1176C= (p.Cys392=) c.*2032C= (n.*2032C=) n.3418C= c.1227C= (p.Cys409=) c.3348C= (p.Cys1116=) c.2619C= (p.Cys873=) c.1779C= (p.Cys593=) | |
| 16 | g.1520668G>T | CA394224828 | IFT140 | c.3594C>A (p.Cys1198Ter) c.1176C>A (p.Cys392Ter) c.*2032C>A (n.*2032C>A) n.3418C>A c.1227C>A (p.Cys409Ter) c.3348C>A (p.Cys1116Ter) c.2619C>A (p.Cys873Ter) c.1779C>A (p.Cys593Ter) | |
| 16 | g.1520669C>A | CA394224832 | IFT140 | c.3593G>T (p.Cys1198Phe) c.1175G>T (p.Cys392Phe) c.*2031G>T (n.*2031G>T) n.3417G>T c.1226G>T (p.Cys409Phe) c.3347G>T (p.Cys1116Phe) c.2618G>T (p.Cys873Phe) c.1778G>T (p.Cys593Phe) | |
| 16 | g.1520669C>G | CA394224830 | IFT140 | c.3593G>C (p.Cys1198Ser) c.1175G>C (p.Cys392Ser) c.*2031G>C (n.*2031G>C) n.3417G>C c.1226G>C (p.Cys409Ser) c.3347G>C (p.Cys1116Ser) c.2618G>C (p.Cys873Ser) c.1778G>C (p.Cys593Ser) | |
| 16 | g.1520669C>T | CA394224831 | IFT140 | c.3593G>A (p.Cys1198Tyr) c.1175G>A (p.Cys392Tyr) c.*2031G>A (n.*2031G>A) n.3417G>A c.1226G>A (p.Cys409Tyr) c.3347G>A (p.Cys1116Tyr) c.2618G>A (p.Cys873Tyr) c.1778G>A (p.Cys593Tyr) | |
| 16 | g.1520670A>C | CA394224833 | IFT140 | c.3592T>G (p.Cys1198Gly) c.1174T>G (p.Cys392Gly) c.*2030T>G (n.*2030T>G) n.3416T>G c.1225T>G (p.Cys409Gly) c.3346T>G (p.Cys1116Gly) c.2617T>G (p.Cys873Gly) c.1777T>G (p.Cys593Gly) | |
| 16 | g.1520670A>G | CA394224834 | IFT140 | c.3592T>C (p.Cys1198Arg) c.1174T>C (p.Cys392Arg) c.*2030T>C (n.*2030T>C) n.3416T>C c.1225T>C (p.Cys409Arg) c.3346T>C (p.Cys1116Arg) c.2617T>C (p.Cys873Arg) c.1777T>C (p.Cys593Arg) | |
| 16 | g.1520670A>T | CA394224835 | IFT140 | c.3592T>A (p.Cys1198Ser) c.1174T>A (p.Cys392Ser) c.*2030T>A (n.*2030T>A) n.3416T>A c.1225T>A (p.Cys409Ser) c.3346T>A (p.Cys1116Ser) c.2617T>A (p.Cys873Ser) c.1777T>A (p.Cys593Ser) | |
| 16 | g.1520671G>A | CA492931847 | IFT140 | c.3591C>T (p.Asp1197=) c.1173C>T (p.Asp391=) c.*2029C>T (n.*2029C>T) n.3415C>T c.1224C>T (p.Asp408=) c.3345C>T (p.Asp1115=) c.2616C>T (p.Asp872=) c.1776C>T (p.Asp592=) | |
| 16 | g.1520671G>C | CA394224836 | IFT140 | c.3591C>G (p.Asp1197Glu) c.1173C>G (p.Asp391Glu) c.*2029C>G (n.*2029C>G) n.3415C>G c.1224C>G (p.Asp408Glu) c.3345C>G (p.Asp1115Glu) c.2616C>G (p.Asp872Glu) c.1776C>G (p.Asp592Glu) | |
| 16 | g.1520671G= | CA2201723715 | IFT140 | c.3591C= (p.Asp1197=) c.1173C= (p.Asp391=) c.*2029C= (n.*2029C=) n.3415C= c.1224C= (p.Asp408=) c.3345C= (p.Asp1115=) c.2616C= (p.Asp872=) c.1776C= (p.Asp592=) | |
| 16 | g.1520671G>T | CA276675911 | IFT140 | c.3591C>A (p.Asp1197Glu) c.1173C>A (p.Asp391Glu) c.*2029C>A (n.*2029C>A) n.3415C>A c.1224C>A (p.Asp408Glu) c.3345C>A (p.Asp1115Glu) c.2616C>A (p.Asp872Glu) c.1776C>A (p.Asp592Glu) | dbSNP gnomAD v4 |
| 16 | g.1520672T>A | CA394224837 | IFT140 | c.3590A>T (p.Asp1197Val) c.1172A>T (p.Asp391Val) c.*2028A>T (n.*2028A>T) n.3414A>T c.1223A>T (p.Asp408Val) c.3344A>T (p.Asp1115Val) c.2615A>T (p.Asp872Val) c.1775A>T (p.Asp592Val) | |
| 16 | g.1520672T>C | CA394224838 | IFT140 | c.3590A>G (p.Asp1197Gly) c.1172A>G (p.Asp391Gly) c.*2028A>G (n.*2028A>G) n.3414A>G c.1223A>G (p.Asp408Gly) c.3344A>G (p.Asp1115Gly) c.2615A>G (p.Asp872Gly) c.1775A>G (p.Asp592Gly) | |
| 16 | g.1520672T>G | CA394224839 | IFT140 | c.3590A>C (p.Asp1197Ala) c.1172A>C (p.Asp391Ala) c.*2028A>C (n.*2028A>C) n.3414A>C c.1223A>C (p.Asp408Ala) c.3344A>C (p.Asp1115Ala) c.2615A>C (p.Asp872Ala) c.1775A>C (p.Asp592Ala) | |
| 16 | g.1520673C>A | CA394224840 | IFT140 | c.3589G>T (p.Asp1197Tyr) c.1171G>T (p.Asp391Tyr) c.*2027G>T (n.*2027G>T) n.3413G>T c.1222G>T (p.Asp408Tyr) c.3343G>T (p.Asp1115Tyr) c.2614G>T (p.Asp872Tyr) c.1774G>T (p.Asp592Tyr) | dbSNP |
| 16 | g.1520673C= | CA2201723716 | IFT140 | c.3589G= (p.Asp1197=) c.1171G= (p.Asp391=) c.*2027G= (n.*2027G=) n.3413G= c.1222G= (p.Asp408=) c.3343G= (p.Asp1115=) c.2614G= (p.Asp872=) c.1774G= (p.Asp592=) | |
| 16 | g.1520673C>G | CA394224841 | IFT140 | c.3589G>C (p.Asp1197His) c.1171G>C (p.Asp391His) c.*2027G>C (n.*2027G>C) n.3413G>C c.1222G>C (p.Asp408His) c.3343G>C (p.Asp1115His) c.2614G>C (p.Asp872His) c.1774G>C (p.Asp592His) | |
| 16 | g.1520673C>T | CA7813104 | IFT140 | c.3589G>A (p.Asp1197Asn) c.1171G>A (p.Asp391Asn) c.*2027G>A (n.*2027G>A) n.3413G>A c.1222G>A (p.Asp408Asn) c.3343G>A (p.Asp1115Asn) c.2614G>A (p.Asp872Asn) c.1774G>A (p.Asp592Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520674T>A | CA492931851 | IFT140 | c.3588A>T (p.Ala1196=) c.1170A>T (p.Ala390=) c.*2026A>T (n.*2026A>T) n.3412A>T c.1221A>T (p.Ala407=) c.3342A>T (p.Ala1114=) c.2613A>T (p.Ala871=) c.1773A>T (p.Ala591=) | |
| 16 | g.1520674T>C | CA492931852 | IFT140 | c.3588A>G (p.Ala1196=) c.1170A>G (p.Ala390=) c.*2026A>G (n.*2026A>G) n.3412A>G c.1221A>G (p.Ala407=) c.3342A>G (p.Ala1114=) c.2613A>G (p.Ala871=) c.1773A>G (p.Ala591=) | |
| 16 | g.1520674T>G | CA492931853 | IFT140 | c.3588A>C (p.Ala1196=) c.1170A>C (p.Ala390=) c.*2026A>C (n.*2026A>C) n.3412A>C c.1221A>C (p.Ala407=) c.3342A>C (p.Ala1114=) c.2613A>C (p.Ala871=) c.1773A>C (p.Ala591=) | |
| 16 | g.1520675G>A | CA7813105 | IFT140 | c.3587C>T (p.Ala1196Val) c.1169C>T (p.Ala390Val) c.*2025C>T (n.*2025C>T) n.3411C>T c.1220C>T (p.Ala407Val) c.3341C>T (p.Ala1114Val) c.2612C>T (p.Ala871Val) c.1772C>T (p.Ala591Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520675G>C | CA394224842 | IFT140 | c.3587C>G (p.Ala1196Gly) c.1169C>G (p.Ala390Gly) c.*2025C>G (n.*2025C>G) n.3411C>G c.1220C>G (p.Ala407Gly) c.3341C>G (p.Ala1114Gly) c.2612C>G (p.Ala871Gly) c.1772C>G (p.Ala591Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520675G= | CA2201723717 | IFT140 | c.3587C= (p.Ala1196=) c.1169C= (p.Ala390=) c.*2025C= (n.*2025C=) n.3411C= c.1220C= (p.Ala407=) c.3341C= (p.Ala1114=) c.2612C= (p.Ala871=) c.1772C= (p.Ala591=) | |
| 16 | g.1520675G>T | CA394224843 | IFT140 | c.3587C>A (p.Ala1196Glu) c.1169C>A (p.Ala390Glu) c.*2025C>A (n.*2025C>A) n.3411C>A c.1220C>A (p.Ala407Glu) c.3341C>A (p.Ala1114Glu) c.2612C>A (p.Ala871Glu) c.1772C>A (p.Ala591Glu) | |
| 16 | g.1520676C>A | CA394224844 | IFT140 | c.3586G>T (p.Ala1196Ser) c.1168G>T (p.Ala390Ser) c.*2024G>T (n.*2024G>T) n.3410G>T c.1219G>T (p.Ala407Ser) c.3340G>T (p.Ala1114Ser) c.2611G>T (p.Ala871Ser) c.1771G>T (p.Ala591Ser) | |
| 16 | g.1520676C>G | CA394224845 | IFT140 | c.3586G>C (p.Ala1196Pro) c.1168G>C (p.Ala390Pro) c.*2024G>C (n.*2024G>C) n.3410G>C c.1219G>C (p.Ala407Pro) c.3340G>C (p.Ala1114Pro) c.2611G>C (p.Ala871Pro) c.1771G>C (p.Ala591Pro) | |
| 16 | g.1520676C>T | CA394224846 | IFT140 | c.3586G>A (p.Ala1196Thr) c.1168G>A (p.Ala390Thr) c.*2024G>A (n.*2024G>A) n.3410G>A c.1219G>A (p.Ala407Thr) c.3340G>A (p.Ala1114Thr) c.2611G>A (p.Ala871Thr) c.1771G>A (p.Ala591Thr) | |
| 16 | g.1520677T>A | CA492931855 | IFT140 | c.3585A>T (p.Ile1195=) c.1167A>T (p.Ile389=) c.*2023A>T (n.*2023A>T) n.3409A>T c.1218A>T (p.Ile406=) c.3339A>T (p.Ile1113=) c.2610A>T (p.Ile870=) c.1770A>T (p.Ile590=) | |
| 16 | g.1520677T>C | CA7813106 | IFT140 | c.3585A>G (p.Ile1195Met) c.1167A>G (p.Ile389Met) c.*2023A>G (n.*2023A>G) n.3409A>G c.1218A>G (p.Ile406Met) c.3339A>G (p.Ile1113Met) c.2610A>G (p.Ile870Met) c.1770A>G (p.Ile590Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1520677T>G | CA492931856 | IFT140 | c.3585A>C (p.Ile1195=) c.1167A>C (p.Ile389=) c.*2023A>C (n.*2023A>C) n.3409A>C c.1218A>C (p.Ile406=) c.3339A>C (p.Ile1113=) c.2610A>C (p.Ile870=) c.1770A>C (p.Ile590=) | |
| 16 | g.1520677T= | CA2201723718 | IFT140 | c.3585A= (p.Ile1195=) c.1167A= (p.Ile389=) c.*2023A= (n.*2023A=) n.3409A= c.1218A= (p.Ile406=) c.3339A= (p.Ile1113=) c.2610A= (p.Ile870=) c.1770A= (p.Ile590=) | |
| 16 | g.1520678A= | CA2201723719 | IFT140 | c.3584T= (p.Ile1195=) c.1166T= (p.Ile389=) c.*2022T= (n.*2022T=) n.3408T= c.1217T= (p.Ile406=) c.3338T= (p.Ile1113=) c.2609T= (p.Ile870=) c.1769T= (p.Ile590=) | |
| 16 | g.1520678A>C | CA394224847 | IFT140 | c.3584T>G (p.Ile1195Arg) c.1166T>G (p.Ile389Arg) c.*2022T>G (n.*2022T>G) n.3408T>G c.1217T>G (p.Ile406Arg) c.3338T>G (p.Ile1113Arg) c.2609T>G (p.Ile870Arg) c.1769T>G (p.Ile590Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520678A>G | CA7813107 | IFT140 | c.3584T>C (p.Ile1195Thr) c.1166T>C (p.Ile389Thr) c.*2022T>C (n.*2022T>C) n.3408T>C c.1217T>C (p.Ile406Thr) c.3338T>C (p.Ile1113Thr) c.2609T>C (p.Ile870Thr) c.1769T>C (p.Ile590Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520678A>T | CA394224848 | IFT140 | c.3584T>A (p.Ile1195Lys) c.1166T>A (p.Ile389Lys) c.*2022T>A (n.*2022T>A) n.3408T>A c.1217T>A (p.Ile406Lys) c.3338T>A (p.Ile1113Lys) c.2609T>A (p.Ile870Lys) c.1769T>A (p.Ile590Lys) | |
| 16 | g.1520679T>A | CA394224849 | IFT140 | c.3583A>T (p.Ile1195Leu) c.1165A>T (p.Ile389Leu) c.*2021A>T (n.*2021A>T) n.3407A>T c.1216A>T (p.Ile406Leu) c.3337A>T (p.Ile1113Leu) c.2608A>T (p.Ile870Leu) c.1768A>T (p.Ile590Leu) | |
| 16 | g.1520679T>C | CA394224850 | IFT140 | c.3583A>G (p.Ile1195Val) c.1165A>G (p.Ile389Val) c.*2021A>G (n.*2021A>G) n.3407A>G c.1216A>G (p.Ile406Val) c.3337A>G (p.Ile1113Val) c.2608A>G (p.Ile870Val) c.1768A>G (p.Ile590Val) | gnomAD v4 |
| 16 | g.1520679T>G | CA394224851 | IFT140 | c.3583A>C (p.Ile1195Leu) c.1165A>C (p.Ile389Leu) c.*2021A>C (n.*2021A>C) n.3407A>C c.1216A>C (p.Ile406Leu) c.3337A>C (p.Ile1113Leu) c.2608A>C (p.Ile870Leu) c.1768A>C (p.Ile590Leu) | dbSNP |
| 16 | g.1520679T= | CA2201723720 | IFT140 | c.3583A= (p.Ile1195=) c.1165A= (p.Ile389=) c.*2021A= (n.*2021A=) n.3407A= c.1216A= (p.Ile406=) c.3337A= (p.Ile1113=) c.2608A= (p.Ile870=) c.1768A= (p.Ile590=) | |
| 16 | g.1520680C>A | CA394224852 | IFT140 | c.3582G>T (p.Gln1194His) c.1164G>T (p.Gln388His) c.*2020G>T (n.*2020G>T) n.3406G>T c.1215G>T (p.Gln405His) c.3336G>T (p.Gln1112His) c.2607G>T (p.Gln869His) c.1767G>T (p.Gln589His) | |
| 16 | g.1520680C>G | CA394224853 | IFT140 | c.3582G>C (p.Gln1194His) c.1164G>C (p.Gln388His) c.*2020G>C (n.*2020G>C) n.3406G>C c.1215G>C (p.Gln405His) c.3336G>C (p.Gln1112His) c.2607G>C (p.Gln869His) c.1767G>C (p.Gln589His) | gnomAD v4 |
| 16 | g.1520680C>T | CA492931859 | IFT140 | c.3582G>A (p.Gln1194=) c.1164G>A (p.Gln388=) c.*2020G>A (n.*2020G>A) n.3406G>A c.1215G>A (p.Gln405=) c.3336G>A (p.Gln1112=) c.2607G>A (p.Gln869=) c.1767G>A (p.Gln589=) | gnomAD v4 COSMIC |
| 16 | g.1520681T>A | CA394224854 | IFT140 | c.3581A>T (p.Gln1194Leu) c.1163A>T (p.Gln388Leu) c.*2019A>T (n.*2019A>T) n.3405A>T c.1214A>T (p.Gln405Leu) c.3335A>T (p.Gln1112Leu) c.2606A>T (p.Gln869Leu) c.1766A>T (p.Gln589Leu) | |
| 16 | g.1520681T>C | CA7813108 | IFT140 | c.3581A>G (p.Gln1194Arg) c.1163A>G (p.Gln388Arg) c.*2019A>G (n.*2019A>G) n.3405A>G c.1214A>G (p.Gln405Arg) c.3335A>G (p.Gln1112Arg) c.2606A>G (p.Gln869Arg) c.1766A>G (p.Gln589Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520681T>G | CA394224855 | IFT140 | c.3581A>C (p.Gln1194Pro) c.1163A>C (p.Gln388Pro) c.*2019A>C (n.*2019A>C) n.3405A>C c.1214A>C (p.Gln405Pro) c.3335A>C (p.Gln1112Pro) c.2606A>C (p.Gln869Pro) c.1766A>C (p.Gln589Pro) | |
| 16 | g.1520681T= | CA2201723721 | IFT140 | c.3581A= (p.Gln1194=) c.1163A= (p.Gln388=) c.*2019A= (n.*2019A=) n.3405A= c.1214A= (p.Gln405=) c.3335A= (p.Gln1112=) c.2606A= (p.Gln869=) c.1766A= (p.Gln589=) | |
| 16 | g.1520682G>A | CA394224856 | IFT140 | c.3580C>T (p.Gln1194Ter) c.1162C>T (p.Gln388Ter) c.*2018C>T (n.*2018C>T) n.3404C>T c.1213C>T (p.Gln405Ter) c.3334C>T (p.Gln1112Ter) c.2605C>T (p.Gln869Ter) c.1765C>T (p.Gln589Ter) | |
| 16 | g.1520682G>C | CA7813109 | IFT140 | c.3580C>G (p.Gln1194Glu) c.1162C>G (p.Gln388Glu) c.*2018C>G (n.*2018C>G) n.3404C>G c.1213C>G (p.Gln405Glu) c.3334C>G (p.Gln1112Glu) c.2605C>G (p.Gln869Glu) c.1765C>G (p.Gln589Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520682G= | CA2201723722 | IFT140 | c.3580C= (p.Gln1194=) c.1162C= (p.Gln388=) c.*2018C= (n.*2018C=) n.3404C= c.1213C= (p.Gln405=) c.3334C= (p.Gln1112=) c.2605C= (p.Gln869=) c.1765C= (p.Gln589=) | |
| 16 | g.1520682G>T | CA394224857 | IFT140 | c.3580C>A (p.Gln1194Lys) c.1162C>A (p.Gln388Lys) c.*2018C>A (n.*2018C>A) n.3404C>A c.1213C>A (p.Gln405Lys) c.3334C>A (p.Gln1112Lys) c.2605C>A (p.Gln869Lys) c.1765C>A (p.Gln589Lys) |