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.1523494G>A | CA656608493 | IFT140 | c.3453+24C>T (n.3453+24C>T) c.1035+24C>T (n.1035+24C>T) c.*1891+24C>T (n.*1891+24C>T) n.3277+24C>T c.1086+24C>T (n.1086+24C>T) c.3207+24C>T (n.3207+24C>T) c.2478+24C>T (n.2478+24C>T) c.1638+24C>T (n.1638+24C>T) | COSMIC |
| 16 | g.1523494G>T | CA656608491 | IFT140 | c.3453+24C>A (n.3453+24C>A) c.1035+24C>A (n.1035+24C>A) c.*1891+24C>A (n.*1891+24C>A) n.3277+24C>A c.1086+24C>A (n.1086+24C>A) c.3207+24C>A (n.3207+24C>A) c.2478+24C>A (n.2478+24C>A) c.1638+24C>A (n.1638+24C>A) | gnomAD v4 COSMIC |
| 16 | g.1523495C>A | CA2631007024 | IFT140 | c.3453+23G>T (n.3453+23G>T) c.1035+23G>T (n.1035+23G>T) c.*1891+23G>T (n.*1891+23G>T) n.3277+23G>T c.1086+23G>T (n.1086+23G>T) c.3207+23G>T (n.3207+23G>T) c.2478+23G>T (n.2478+23G>T) c.1638+23G>T (n.1638+23G>T) | gnomAD v4 |
| 16 | g.1523496C>T | CA2631007026 | IFT140 | c.3453+22G>A (n.3453+22G>A) c.1035+22G>A (n.1035+22G>A) c.*1891+22G>A (n.*1891+22G>A) n.3277+22G>A c.1086+22G>A (n.1086+22G>A) c.3207+22G>A (n.3207+22G>A) c.2478+22G>A (n.2478+22G>A) c.1638+22G>A (n.1638+22G>A) | gnomAD v4 |
| 16 | g.1523497C= | CA2201697746 | IFT140 | c.3453+21G= (n.3453+21G=) c.1035+21G= (n.1035+21G=) c.*1891+21G= (n.*1891+21G=) n.3277+21G= c.1086+21G= (n.1086+21G=) c.3207+21G= (n.3207+21G=) c.2478+21G= (n.2478+21G=) c.1638+21G= (n.1638+21G=) | |
| 16 | g.1523497C>G | CA2575869240 | IFT140 | c.3453+21G>C (n.3453+21G>C) c.1035+21G>C (n.1035+21G>C) c.*1891+21G>C (n.*1891+21G>C) n.3277+21G>C c.1086+21G>C (n.1086+21G>C) c.3207+21G>C (n.3207+21G>C) c.2478+21G>C (n.2478+21G>C) c.1638+21G>C (n.1638+21G>C) | |
| 16 | g.1523497C>T | CA7813167 | IFT140 | c.3453+21G>A (n.3453+21G>A) c.1035+21G>A (n.1035+21G>A) c.*1891+21G>A (n.*1891+21G>A) n.3277+21G>A c.1086+21G>A (n.1086+21G>A) c.3207+21G>A (n.3207+21G>A) c.2478+21G>A (n.2478+21G>A) c.1638+21G>A (n.1638+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523498A= | CA2201697747 | IFT140 | c.3453+20T= (n.3453+20T=) c.1035+20T= (n.1035+20T=) c.*1891+20T= (n.*1891+20T=) n.3277+20T= c.1086+20T= (n.1086+20T=) c.3207+20T= (n.3207+20T=) c.2478+20T= (n.2478+20T=) c.1638+20T= (n.1638+20T=) | |
| 16 | g.1523498A>C | CA620700879 | IFT140 | c.3453+20T>G (n.3453+20T>G) c.1035+20T>G (n.1035+20T>G) c.*1891+20T>G (n.*1891+20T>G) n.3277+20T>G c.1086+20T>G (n.1086+20T>G) c.3207+20T>G (n.3207+20T>G) c.2478+20T>G (n.2478+20T>G) c.1638+20T>G (n.1638+20T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523501C>A | CA2631007033 | IFT140 | c.3453+17G>T (n.3453+17G>T) c.1035+17G>T (n.1035+17G>T) c.*1891+17G>T (n.*1891+17G>T) n.3277+17G>T c.1086+17G>T (n.1086+17G>T) c.3207+17G>T (n.3207+17G>T) c.2478+17G>T (n.2478+17G>T) c.1638+17G>T (n.1638+17G>T) | gnomAD v4 |
| 16 | g.1523501C= | CA2201697748 | IFT140 | c.3453+17G= (n.3453+17G=) c.1035+17G= (n.1035+17G=) c.*1891+17G= (n.*1891+17G=) n.3277+17G= c.1086+17G= (n.1086+17G=) c.3207+17G= (n.3207+17G=) c.2478+17G= (n.2478+17G=) c.1638+17G= (n.1638+17G=) | |
| 16 | g.1523501C>G | CA2731613733 | IFT140 | c.3453+17G>C (n.3453+17G>C) c.1035+17G>C (n.1035+17G>C) c.*1891+17G>C (n.*1891+17G>C) n.3277+17G>C c.1086+17G>C (n.1086+17G>C) c.3207+17G>C (n.3207+17G>C) c.2478+17G>C (n.2478+17G>C) c.1638+17G>C (n.1638+17G>C) | dbSNP |
| 16 | g.1523501C>T | CA620700880 | IFT140 | c.3453+17G>A (n.3453+17G>A) c.1035+17G>A (n.1035+17G>A) c.*1891+17G>A (n.*1891+17G>A) n.3277+17G>A c.1086+17G>A (n.1086+17G>A) c.3207+17G>A (n.3207+17G>A) c.2478+17G>A (n.2478+17G>A) c.1638+17G>A (n.1638+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523502C>A | CA2201697750 | IFT140 | c.3453+16G>T (n.3453+16G>T) c.1035+16G>T (n.1035+16G>T) c.*1891+16G>T (n.*1891+16G>T) n.3277+16G>T c.1086+16G>T (n.1086+16G>T) c.3207+16G>T (n.3207+16G>T) c.2478+16G>T (n.2478+16G>T) c.1638+16G>T (n.1638+16G>T) | dbSNP |
| 16 | g.1523502C= | CA2201697749 | IFT140 | c.3453+16G= (n.3453+16G=) c.1035+16G= (n.1035+16G=) c.*1891+16G= (n.*1891+16G=) n.3277+16G= c.1086+16G= (n.1086+16G=) c.3207+16G= (n.3207+16G=) c.2478+16G= (n.2478+16G=) c.1638+16G= (n.1638+16G=) | |
| 16 | g.1523502C>T | CA2631007038 | IFT140 | c.3453+16G>A (n.3453+16G>A) c.1035+16G>A (n.1035+16G>A) c.*1891+16G>A (n.*1891+16G>A) n.3277+16G>A c.1086+16G>A (n.1086+16G>A) c.3207+16G>A (n.3207+16G>A) c.2478+16G>A (n.2478+16G>A) c.1638+16G>A (n.1638+16G>A) | gnomAD v4 |
| 16 | g.1523503C= | CA2201697751 | IFT140 | c.3453+15G= (n.3453+15G=) c.1035+15G= (n.1035+15G=) c.*1891+15G= (n.*1891+15G=) n.3277+15G= c.1086+15G= (n.1086+15G=) c.3207+15G= (n.3207+15G=) c.2478+15G= (n.2478+15G=) c.1638+15G= (n.1638+15G=) | |
| 16 | g.1523503C>T | CA7813168 | IFT140 | c.3453+15G>A (n.3453+15G>A) c.1035+15G>A (n.1035+15G>A) c.*1891+15G>A (n.*1891+15G>A) n.3277+15G>A c.1086+15G>A (n.1086+15G>A) c.3207+15G>A (n.3207+15G>A) c.2478+15G>A (n.2478+15G>A) c.1638+15G>A (n.1638+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523504C= | CA2201697752 | IFT140 | c.3453+14G= (n.3453+14G=) c.1035+14G= (n.1035+14G=) c.*1891+14G= (n.*1891+14G=) n.3277+14G= c.1086+14G= (n.1086+14G=) c.3207+14G= (n.3207+14G=) c.2478+14G= (n.2478+14G=) c.1638+14G= (n.1638+14G=) | |
| 16 | g.1523504C>T | CA7813169 | IFT140 | c.3453+14G>A (n.3453+14G>A) c.1035+14G>A (n.1035+14G>A) c.*1891+14G>A (n.*1891+14G>A) n.3277+14G>A c.1086+14G>A (n.1086+14G>A) c.3207+14G>A (n.3207+14G>A) c.2478+14G>A (n.2478+14G>A) c.1638+14G>A (n.1638+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523505G>A | CA7813170 | IFT140 | c.3453+13C>T (n.3453+13C>T) c.1035+13C>T (n.1035+13C>T) c.*1891+13C>T (n.*1891+13C>T) n.3277+13C>T c.1086+13C>T (n.1086+13C>T) c.3207+13C>T (n.3207+13C>T) c.2478+13C>T (n.2478+13C>T) c.1638+13C>T (n.1638+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523505G= | CA2201697753 | IFT140 | c.3453+13C= (n.3453+13C=) c.1035+13C= (n.1035+13C=) c.*1891+13C= (n.*1891+13C=) n.3277+13C= c.1086+13C= (n.1086+13C=) c.3207+13C= (n.3207+13C=) c.2478+13C= (n.2478+13C=) c.1638+13C= (n.1638+13C=) | |
| 16 | g.1523506C= | CA2201697754 | IFT140 | c.3453+12G= (n.3453+12G=) c.1035+12G= (n.1035+12G=) c.*1891+12G= (n.*1891+12G=) n.3277+12G= c.1086+12G= (n.1086+12G=) c.3207+12G= (n.3207+12G=) c.2478+12G= (n.2478+12G=) c.1638+12G= (n.1638+12G=) | |
| 16 | g.1523506C>T | CA620700881 | IFT140 | c.3453+12G>A (n.3453+12G>A) c.1035+12G>A (n.1035+12G>A) c.*1891+12G>A (n.*1891+12G>A) n.3277+12G>A c.1086+12G>A (n.1086+12G>A) c.3207+12G>A (n.3207+12G>A) c.2478+12G>A (n.2478+12G>A) c.1638+12G>A (n.1638+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523509G>A | CA718385704 | IFT140 | c.3453+9C>T (n.3453+9C>T) c.1035+9C>T (n.1035+9C>T) c.*1891+9C>T (n.*1891+9C>T) n.3277+9C>T c.1086+9C>T (n.1086+9C>T) c.3207+9C>T (n.3207+9C>T) c.2478+9C>T (n.2478+9C>T) c.1638+9C>T (n.1638+9C>T) | dbSNP |
| 16 | g.1523509G= | CA2201697755 | IFT140 | c.3453+9C= (n.3453+9C=) c.1035+9C= (n.1035+9C=) c.*1891+9C= (n.*1891+9C=) n.3277+9C= c.1086+9C= (n.1086+9C=) c.3207+9C= (n.3207+9C=) c.2478+9C= (n.2478+9C=) c.1638+9C= (n.1638+9C=) | |
| 16 | g.1523509G>T | CA2631007049 | IFT140 | c.3453+9C>A (n.3453+9C>A) c.1035+9C>A (n.1035+9C>A) c.*1891+9C>A (n.*1891+9C>A) n.3277+9C>A c.1086+9C>A (n.1086+9C>A) c.3207+9C>A (n.3207+9C>A) c.2478+9C>A (n.2478+9C>A) c.1638+9C>A (n.1638+9C>A) | gnomAD v4 |
| 16 | g.1523510C>A | CA2631007052 | IFT140 | c.3453+8G>T (n.3453+8G>T) c.1035+8G>T (n.1035+8G>T) c.*1891+8G>T (n.*1891+8G>T) n.3277+8G>T c.1086+8G>T (n.1086+8G>T) c.3207+8G>T (n.3207+8G>T) c.2478+8G>T (n.2478+8G>T) c.1638+8G>T (n.1638+8G>T) | gnomAD v4 |
| 16 | g.1523510C>T | CA2631007054 | IFT140 | c.3453+8G>A (n.3453+8G>A) c.1035+8G>A (n.1035+8G>A) c.*1891+8G>A (n.*1891+8G>A) n.3277+8G>A c.1086+8G>A (n.1086+8G>A) c.3207+8G>A (n.3207+8G>A) c.2478+8G>A (n.2478+8G>A) c.1638+8G>A (n.1638+8G>A) | gnomAD v4 |
| 16 | g.1523511C>A | CA620700882 | IFT140 | c.3453+7G>T (n.3453+7G>T) c.1035+7G>T (n.1035+7G>T) c.*1891+7G>T (n.*1891+7G>T) n.3277+7G>T c.1086+7G>T (n.1086+7G>T) c.3207+7G>T (n.3207+7G>T) c.2478+7G>T (n.2478+7G>T) c.1638+7G>T (n.1638+7G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523511C= | CA2201697756 | IFT140 | c.3453+7G= (n.3453+7G=) c.1035+7G= (n.1035+7G=) c.*1891+7G= (n.*1891+7G=) n.3277+7G= c.1086+7G= (n.1086+7G=) c.3207+7G= (n.3207+7G=) c.2478+7G= (n.2478+7G=) c.1638+7G= (n.1638+7G=) | |
| 16 | g.1523511C>T | CA7813171 | IFT140 | c.3453+7G>A (n.3453+7G>A) c.1035+7G>A (n.1035+7G>A) c.*1891+7G>A (n.*1891+7G>A) n.3277+7G>A c.1086+7G>A (n.1086+7G>A) c.3207+7G>A (n.3207+7G>A) c.2478+7G>A (n.2478+7G>A) c.1638+7G>A (n.1638+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523512C= | CA2201697757 | IFT140 | c.3453+6G= (n.3453+6G=) c.1035+6G= (n.1035+6G=) c.*1891+6G= (n.*1891+6G=) n.3277+6G= c.1086+6G= (n.1086+6G=) c.3207+6G= (n.3207+6G=) c.2478+6G= (n.2478+6G=) c.1638+6G= (n.1638+6G=) | |
| 16 | g.1523512C>G | CA2631007061 | IFT140 | c.3453+6G>C (n.3453+6G>C) c.1035+6G>C (n.1035+6G>C) c.*1891+6G>C (n.*1891+6G>C) n.3277+6G>C c.1086+6G>C (n.1086+6G>C) c.3207+6G>C (n.3207+6G>C) c.2478+6G>C (n.2478+6G>C) c.1638+6G>C (n.1638+6G>C) | gnomAD v4 |
| 16 | g.1523512C>T | CA973725415 | IFT140 | c.3453+6G>A (n.3453+6G>A) c.1035+6G>A (n.1035+6G>A) c.*1891+6G>A (n.*1891+6G>A) n.3277+6G>A c.1086+6G>A (n.1086+6G>A) c.3207+6G>A (n.3207+6G>A) c.2478+6G>A (n.2478+6G>A) c.1638+6G>A (n.1638+6G>A) | dbSNP |
| 16 | g.1523513C= | CA2201697758 | IFT140 | c.3453+5G= (n.3453+5G=) c.1035+5G= (n.1035+5G=) c.*1891+5G= (n.*1891+5G=) n.3277+5G= c.1086+5G= (n.1086+5G=) c.3207+5G= (n.3207+5G=) c.2478+5G= (n.2478+5G=) c.1638+5G= (n.1638+5G=) | |
| 16 | g.1523513C>G | CA620700883 | IFT140 | c.3453+5G>C (n.3453+5G>C) c.1035+5G>C (n.1035+5G>C) c.*1891+5G>C (n.*1891+5G>C) n.3277+5G>C c.1086+5G>C (n.1086+5G>C) c.3207+5G>C (n.3207+5G>C) c.2478+5G>C (n.2478+5G>C) c.1638+5G>C (n.1638+5G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523513C>T | CA7813172 | IFT140 | c.3453+5G>A (n.3453+5G>A) c.1035+5G>A (n.1035+5G>A) c.*1891+5G>A (n.*1891+5G>A) n.3277+5G>A c.1086+5G>A (n.1086+5G>A) c.3207+5G>A (n.3207+5G>A) c.2478+5G>A (n.2478+5G>A) c.1638+5G>A (n.1638+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523514G>A | CA7813173 | IFT140 | c.3453+4C>T (n.3453+4C>T) c.1035+4C>T (n.1035+4C>T) c.*1891+4C>T (n.*1891+4C>T) n.3277+4C>T c.1086+4C>T (n.1086+4C>T) c.3207+4C>T (n.3207+4C>T) c.2478+4C>T (n.2478+4C>T) c.1638+4C>T (n.1638+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523514G= | CA2201697759 | IFT140 | c.3453+4C= (n.3453+4C=) c.1035+4C= (n.1035+4C=) c.*1891+4C= (n.*1891+4C=) n.3277+4C= c.1086+4C= (n.1086+4C=) c.3207+4C= (n.3207+4C=) c.2478+4C= (n.2478+4C=) c.1638+4C= (n.1638+4C=) | |
| 16 | g.1523514G>T | CA620700884 | IFT140 | c.3453+4C>A (n.3453+4C>A) c.1035+4C>A (n.1035+4C>A) c.*1891+4C>A (n.*1891+4C>A) n.3277+4C>A c.1086+4C>A (n.1086+4C>A) c.3207+4C>A (n.3207+4C>A) c.2478+4C>A (n.2478+4C>A) c.1638+4C>A (n.1638+4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523516A= | CA2201697760 | IFT140 | c.3453+2T= (n.3453+2T=) c.1035+2T= (n.1035+2T=) c.*1891+2T= (n.*1891+2T=) n.3277+2T= c.1086+2T= (n.1086+2T=) c.3207+2T= (n.3207+2T=) c.2478+2T= (n.2478+2T=) c.1638+2T= (n.1638+2T=) | |
| 16 | g.1523516A>C | CA394225134 | IFT140 | c.3453+2T>G (n.3453+2T>G) c.1035+2T>G (n.1035+2T>G) c.*1891+2T>G (n.*1891+2T>G) n.3277+2T>G c.1086+2T>G (n.1086+2T>G) c.3207+2T>G (n.3207+2T>G) c.2478+2T>G (n.2478+2T>G) c.1638+2T>G (n.1638+2T>G) | dbSNP |
| 16 | g.1523516A>G | CA394225133 | IFT140 | c.3453+2T>C (n.3453+2T>C) c.1035+2T>C (n.1035+2T>C) c.*1891+2T>C (n.*1891+2T>C) n.3277+2T>C c.1086+2T>C (n.1086+2T>C) c.3207+2T>C (n.3207+2T>C) c.2478+2T>C (n.2478+2T>C) c.1638+2T>C (n.1638+2T>C) | |
| 16 | g.1523516A>T | CA394225135 | IFT140 | c.3453+2T>A (n.3453+2T>A) c.1035+2T>A (n.1035+2T>A) c.*1891+2T>A (n.*1891+2T>A) n.3277+2T>A c.1086+2T>A (n.1086+2T>A) c.3207+2T>A (n.3207+2T>A) c.2478+2T>A (n.2478+2T>A) c.1638+2T>A (n.1638+2T>A) | |
| 16 | g.1523517C>A | CA394225136 | IFT140 | c.3453+1G>T (n.3453+1G>T) c.1035+1G>T (n.1035+1G>T) c.*1891+1G>T (n.*1891+1G>T) n.3277+1G>T c.1086+1G>T (n.1086+1G>T) c.3207+1G>T (n.3207+1G>T) c.2478+1G>T (n.2478+1G>T) c.1638+1G>T (n.1638+1G>T) | |
| 16 | g.1523517C>G | CA394225138 | IFT140 | c.3453+1G>C (n.3453+1G>C) c.1035+1G>C (n.1035+1G>C) c.*1891+1G>C (n.*1891+1G>C) n.3277+1G>C c.1086+1G>C (n.1086+1G>C) c.3207+1G>C (n.3207+1G>C) c.2478+1G>C (n.2478+1G>C) c.1638+1G>C (n.1638+1G>C) | gnomAD v4 |
| 16 | g.1523517C>T | CA394225137 | IFT140 | c.3453+1G>A (n.3453+1G>A) c.1035+1G>A (n.1035+1G>A) c.*1891+1G>A (n.*1891+1G>A) n.3277+1G>A c.1086+1G>A (n.1086+1G>A) c.3207+1G>A (n.3207+1G>A) c.2478+1G>A (n.2478+1G>A) c.1638+1G>A (n.1638+1G>A) | gnomAD v4 |
| 16 | g.1523518C>A | CA394225139 | IFT140 | c.3453G>T (p.Lys1151Asn) c.1035G>T (p.Lys345Asn) c.*1891G>T (n.*1891G>T) n.3277G>T c.1086G>T (p.Lys362Asn) c.3207G>T (p.Lys1069Asn) c.2478G>T (p.Lys826Asn) c.1638G>T (p.Lys546Asn) | COSMIC |
| 16 | g.1523518C>G | CA394225140 | IFT140 | c.3453G>C (p.Lys1151Asn) c.1035G>C (p.Lys345Asn) c.*1891G>C (n.*1891G>C) n.3277G>C c.1086G>C (p.Lys362Asn) c.3207G>C (p.Lys1069Asn) c.2478G>C (p.Lys826Asn) c.1638G>C (p.Lys546Asn) | |
| 16 | g.1523518C>T | CA493031614 | IFT140 | c.3453G>A (p.Lys1151=) c.1035G>A (p.Lys345=) c.*1891G>A (n.*1891G>A) n.3277G>A c.1086G>A (p.Lys362=) c.3207G>A (p.Lys1069=) c.2478G>A (p.Lys826=) c.1638G>A (p.Lys546=) | |
| 16 | g.1523519T>A | CA394225141 | IFT140 | c.3452A>T (p.Lys1151Met) c.1034A>T (p.Lys345Met) c.*1890A>T (n.*1890A>T) n.3276A>T c.1085A>T (p.Lys362Met) c.3206A>T (p.Lys1069Met) c.2477A>T (p.Lys826Met) c.1637A>T (p.Lys546Met) | |
| 16 | g.1523519T>C | CA394225142 | IFT140 | c.3452A>G (p.Lys1151Arg) c.1034A>G (p.Lys345Arg) c.*1890A>G (n.*1890A>G) n.3276A>G c.1085A>G (p.Lys362Arg) c.3206A>G (p.Lys1069Arg) c.2477A>G (p.Lys826Arg) c.1637A>G (p.Lys546Arg) | |
| 16 | g.1523519T>G | CA394225143 | IFT140 | c.3452A>C (p.Lys1151Thr) c.1034A>C (p.Lys345Thr) c.*1890A>C (n.*1890A>C) n.3276A>C c.1085A>C (p.Lys362Thr) c.3206A>C (p.Lys1069Thr) c.2477A>C (p.Lys826Thr) c.1637A>C (p.Lys546Thr) | |
| 16 | g.1523520T>A | CA394225144 | IFT140 | c.3451A>T (p.Lys1151Ter) c.1033A>T (p.Lys345Ter) c.*1889A>T (n.*1889A>T) n.3275A>T c.1084A>T (p.Lys362Ter) c.3205A>T (p.Lys1069Ter) c.2476A>T (p.Lys826Ter) c.1636A>T (p.Lys546Ter) | |
| 16 | g.1523520T>C | CA394225145 | IFT140 | c.3451A>G (p.Lys1151Glu) c.1033A>G (p.Lys345Glu) c.*1889A>G (n.*1889A>G) n.3275A>G c.1084A>G (p.Lys362Glu) c.3205A>G (p.Lys1069Glu) c.2476A>G (p.Lys826Glu) c.1636A>G (p.Lys546Glu) | COSMIC |
| 16 | g.1523520T>G | CA394225146 | IFT140 | c.3451A>C (p.Lys1151Gln) c.1033A>C (p.Lys345Gln) c.*1889A>C (n.*1889A>C) n.3275A>C c.1084A>C (p.Lys362Gln) c.3205A>C (p.Lys1069Gln) c.2476A>C (p.Lys826Gln) c.1636A>C (p.Lys546Gln) | |
| 16 | g.1523521C>A | CA394225147 | IFT140 | c.3450G>T (p.Arg1150Ser) c.1032G>T (p.Arg344Ser) c.*1888G>T (n.*1888G>T) n.3274G>T c.1083G>T (p.Arg361Ser) c.3204G>T (p.Arg1068Ser) c.2475G>T (p.Arg825Ser) c.1635G>T (p.Arg545Ser) | |
| 16 | g.1523521C= | CA2201697761 | IFT140 | c.3450G= (p.Arg1150=) c.1032G= (p.Arg344=) c.*1888G= (n.*1888G=) n.3274G= c.1083G= (p.Arg361=) c.3204G= (p.Arg1068=) c.2475G= (p.Arg825=) c.1635G= (p.Arg545=) | |
| 16 | g.1523521C>G | CA394225148 | IFT140 | c.3450G>C (p.Arg1150Ser) c.1032G>C (p.Arg344Ser) c.*1888G>C (n.*1888G>C) n.3274G>C c.1083G>C (p.Arg361Ser) c.3204G>C (p.Arg1068Ser) c.2475G>C (p.Arg825Ser) c.1635G>C (p.Arg545Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523521C>T | CA493031638 | IFT140 | c.3450G>A (p.Arg1150=) c.1032G>A (p.Arg344=) c.*1888G>A (n.*1888G>A) n.3274G>A c.1083G>A (p.Arg361=) c.3204G>A (p.Arg1068=) c.2475G>A (p.Arg825=) c.1635G>A (p.Arg545=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523522C>A | CA394225151 | IFT140 | c.3449G>T (p.Arg1150Met) c.1031G>T (p.Arg344Met) c.*1887G>T (n.*1887G>T) n.3273G>T c.1082G>T (p.Arg361Met) c.3203G>T (p.Arg1068Met) c.2474G>T (p.Arg825Met) c.1634G>T (p.Arg545Met) | |
| 16 | g.1523522C>G | CA394225150 | IFT140 | c.3449G>C (p.Arg1150Thr) c.1031G>C (p.Arg344Thr) c.*1887G>C (n.*1887G>C) n.3273G>C c.1082G>C (p.Arg361Thr) c.3203G>C (p.Arg1068Thr) c.2474G>C (p.Arg825Thr) c.1634G>C (p.Arg545Thr) | |
| 16 | g.1523522C>T | CA394225149 | IFT140 | c.3449G>A (p.Arg1150Lys) c.1031G>A (p.Arg344Lys) c.*1887G>A (n.*1887G>A) n.3273G>A c.1082G>A (p.Arg361Lys) c.3203G>A (p.Arg1068Lys) c.2474G>A (p.Arg825Lys) c.1634G>A (p.Arg545Lys) | |
| 16 | g.1523523T>A | CA394225152 | IFT140 | c.3448A>T (p.Arg1150Trp) c.1030A>T (p.Arg344Trp) c.*1886A>T (n.*1886A>T) n.3272A>T c.1081A>T (p.Arg361Trp) c.3202A>T (p.Arg1068Trp) c.2473A>T (p.Arg825Trp) c.1633A>T (p.Arg545Trp) | |
| 16 | g.1523523T>C | CA394225153 | IFT140 | c.3448A>G (p.Arg1150Gly) c.1030A>G (p.Arg344Gly) c.*1886A>G (n.*1886A>G) n.3272A>G c.1081A>G (p.Arg361Gly) c.3202A>G (p.Arg1068Gly) c.2473A>G (p.Arg825Gly) c.1633A>G (p.Arg545Gly) | dbSNP |
| 16 | g.1523523T>G | CA493031649 | IFT140 | c.3448A>C (p.Arg1150=) c.1030A>C (p.Arg344=) c.*1886A>C (n.*1886A>C) n.3272A>C c.1081A>C (p.Arg361=) c.3202A>C (p.Arg1068=) c.2473A>C (p.Arg825=) c.1633A>C (p.Arg545=) | dbSNP gnomAD v4 |
| 16 | g.1523523T= | CA2201697762 | IFT140 | c.3448A= (p.Arg1150=) c.1030A= (p.Arg344=) c.*1886A= (n.*1886A=) n.3272A= c.1081A= (p.Arg361=) c.3202A= (p.Arg1068=) c.2473A= (p.Arg825=) c.1633A= (p.Arg545=) | |
| 16 | g.1523524G>A | CA493031651 | IFT140 | c.3447C>T (p.Ala1149=) c.1029C>T (p.Ala343=) c.*1885C>T (n.*1885C>T) n.3271C>T c.1080C>T (p.Ala360=) c.3201C>T (p.Ala1067=) c.2472C>T (p.Ala824=) c.1632C>T (p.Ala544=) | |
| 16 | g.1523524G>C | CA493031653 | IFT140 | c.3447C>G (p.Ala1149=) c.1029C>G (p.Ala343=) c.*1885C>G (n.*1885C>G) n.3271C>G c.1080C>G (p.Ala360=) c.3201C>G (p.Ala1067=) c.2472C>G (p.Ala824=) c.1632C>G (p.Ala544=) | |
| 16 | g.1523524G>T | CA493031654 | IFT140 | c.3447C>A (p.Ala1149=) c.1029C>A (p.Ala343=) c.*1885C>A (n.*1885C>A) n.3271C>A c.1080C>A (p.Ala360=) c.3201C>A (p.Ala1067=) c.2472C>A (p.Ala824=) c.1632C>A (p.Ala544=) | gnomAD v4 |
| 16 | g.1523525G>A | CA394225154 | IFT140 | c.3446C>T (p.Ala1149Val) c.1028C>T (p.Ala343Val) c.*1884C>T (n.*1884C>T) n.3270C>T c.1079C>T (p.Ala360Val) c.3200C>T (p.Ala1067Val) c.2471C>T (p.Ala824Val) c.1631C>T (p.Ala544Val) | |
| 16 | g.1523525G>C | CA394225155 | IFT140 | c.3446C>G (p.Ala1149Gly) c.1028C>G (p.Ala343Gly) c.*1884C>G (n.*1884C>G) n.3270C>G c.1079C>G (p.Ala360Gly) c.3200C>G (p.Ala1067Gly) c.2471C>G (p.Ala824Gly) c.1631C>G (p.Ala544Gly) | |
| 16 | g.1523525G>T | CA394225156 | IFT140 | c.3446C>A (p.Ala1149Asp) c.1028C>A (p.Ala343Asp) c.*1884C>A (n.*1884C>A) n.3270C>A c.1079C>A (p.Ala360Asp) c.3200C>A (p.Ala1067Asp) c.2471C>A (p.Ala824Asp) c.1631C>A (p.Ala544Asp) | gnomAD v4 |
| 16 | g.1523526C>A | CA394225157 | IFT140 | c.3445G>T (p.Ala1149Ser) c.1027G>T (p.Ala343Ser) c.*1883G>T (n.*1883G>T) n.3269G>T c.1078G>T (p.Ala360Ser) c.3199G>T (p.Ala1067Ser) c.2470G>T (p.Ala824Ser) c.1630G>T (p.Ala544Ser) | |
| 16 | g.1523526C>G | CA394225158 | IFT140 | c.3445G>C (p.Ala1149Pro) c.1027G>C (p.Ala343Pro) c.*1883G>C (n.*1883G>C) n.3269G>C c.1078G>C (p.Ala360Pro) c.3199G>C (p.Ala1067Pro) c.2470G>C (p.Ala824Pro) c.1630G>C (p.Ala544Pro) | |
| 16 | g.1523526C>T | CA394225159 | IFT140 | c.3445G>A (p.Ala1149Thr) c.1027G>A (p.Ala343Thr) c.*1883G>A (n.*1883G>A) n.3269G>A c.1078G>A (p.Ala360Thr) c.3199G>A (p.Ala1067Thr) c.2470G>A (p.Ala824Thr) c.1630G>A (p.Ala544Thr) | gnomAD v4 |
| 16 | g.1523527A= | CA2201697763 | IFT140 | c.3444T= (p.Ala1148=) c.1026T= (p.Ala342=) c.*1882T= (n.*1882T=) n.3268T= c.1077T= (p.Ala359=) c.3198T= (p.Ala1066=) c.2469T= (p.Ala823=) c.1629T= (p.Ala543=) | |
| 16 | g.1523527A>C | CA493031661 | IFT140 | c.3444T>G (p.Ala1148=) c.1026T>G (p.Ala342=) c.*1882T>G (n.*1882T>G) n.3268T>G c.1077T>G (p.Ala359=) c.3198T>G (p.Ala1066=) c.2469T>G (p.Ala823=) c.1629T>G (p.Ala543=) | |
| 16 | g.1523527A>G | CA493031670 | IFT140 | c.3444T>C (p.Ala1148=) c.1026T>C (p.Ala342=) c.*1882T>C (n.*1882T>C) n.3268T>C c.1077T>C (p.Ala359=) c.3198T>C (p.Ala1066=) c.2469T>C (p.Ala823=) c.1629T>C (p.Ala543=) | dbSNP |
| 16 | g.1523527A>T | CA493031666 | IFT140 | c.3444T>A (p.Ala1148=) c.1026T>A (p.Ala342=) c.*1882T>A (n.*1882T>A) n.3268T>A c.1077T>A (p.Ala359=) c.3198T>A (p.Ala1066=) c.2469T>A (p.Ala823=) c.1629T>A (p.Ala543=) | |
| 16 | g.1523528G>A | CA394225160 | IFT140 | c.3443C>T (p.Ala1148Val) c.1025C>T (p.Ala342Val) c.*1881C>T (n.*1881C>T) n.3267C>T c.1076C>T (p.Ala359Val) c.3197C>T (p.Ala1066Val) c.2468C>T (p.Ala823Val) c.1628C>T (p.Ala543Val) | |
| 16 | g.1523528G>C | CA394225161 | IFT140 | c.3443C>G (p.Ala1148Gly) c.1025C>G (p.Ala342Gly) c.*1881C>G (n.*1881C>G) n.3267C>G c.1076C>G (p.Ala359Gly) c.3197C>G (p.Ala1066Gly) c.2468C>G (p.Ala823Gly) c.1628C>G (p.Ala543Gly) | gnomAD v4 |
| 16 | g.1523528G>T | CA394225162 | IFT140 | c.3443C>A (p.Ala1148Asp) c.1025C>A (p.Ala342Asp) c.*1881C>A (n.*1881C>A) n.3267C>A c.1076C>A (p.Ala359Asp) c.3197C>A (p.Ala1066Asp) c.2468C>A (p.Ala823Asp) c.1628C>A (p.Ala543Asp) | |
| 16 | g.1523529C>A | CA394225165 | IFT140 | c.3442G>T (p.Ala1148Ser) c.1024G>T (p.Ala342Ser) c.*1880G>T (n.*1880G>T) n.3266G>T c.1075G>T (p.Ala359Ser) c.3196G>T (p.Ala1066Ser) c.2467G>T (p.Ala823Ser) c.1627G>T (p.Ala543Ser) | |
| 16 | g.1523529C= | CA2201697764 | IFT140 | c.3442G= (p.Ala1148=) c.1024G= (p.Ala342=) c.*1880G= (n.*1880G=) n.3266G= c.1075G= (p.Ala359=) c.3196G= (p.Ala1066=) c.2467G= (p.Ala823=) c.1627G= (p.Ala543=) | |
| 16 | g.1523529C>G | CA394225164 | IFT140 | c.3442G>C (p.Ala1148Pro) c.1024G>C (p.Ala342Pro) c.*1880G>C (n.*1880G>C) n.3266G>C c.1075G>C (p.Ala359Pro) c.3196G>C (p.Ala1066Pro) c.2467G>C (p.Ala823Pro) c.1627G>C (p.Ala543Pro) | |
| 16 | g.1523529C>T | CA394225163 | IFT140 | c.3442G>A (p.Ala1148Thr) c.1024G>A (p.Ala342Thr) c.*1880G>A (n.*1880G>A) n.3266G>A c.1075G>A (p.Ala359Thr) c.3196G>A (p.Ala1066Thr) c.2467G>A (p.Ala823Thr) c.1627G>A (p.Ala543Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523530C>A | CA493031679 | IFT140 | c.3441G>T (p.Leu1147=) c.1023G>T (p.Leu341=) c.*1879G>T (n.*1879G>T) n.3265G>T c.1074G>T (p.Leu358=) c.3195G>T (p.Leu1065=) c.2466G>T (p.Leu822=) c.1626G>T (p.Leu542=) | |
| 16 | g.1523530C>G | CA493031680 | IFT140 | c.3441G>C (p.Leu1147=) c.1023G>C (p.Leu341=) c.*1879G>C (n.*1879G>C) n.3265G>C c.1074G>C (p.Leu358=) c.3195G>C (p.Leu1065=) c.2466G>C (p.Leu822=) c.1626G>C (p.Leu542=) | |
| 16 | g.1523530C>T | CA493031682 | IFT140 | c.3441G>A (p.Leu1147=) c.1023G>A (p.Leu341=) c.*1879G>A (n.*1879G>A) n.3265G>A c.1074G>A (p.Leu358=) c.3195G>A (p.Leu1065=) c.2466G>A (p.Leu822=) c.1626G>A (p.Leu542=) | |
| 16 | g.1523537_1523539del | CA2631007102 | IFT140 | c.3439_3441del (p.Leu1147del) c.1021_1023del (p.Leu341del) c.*1877_*1879del (n.*1877_*1879del) n.3263_3265del c.1072_1074del (p.Leu358del) c.3193_3195del (p.Leu1065del) c.2464_2466del (p.Leu822del) c.1624_1626del (p.Leu542del) | gnomAD v4 |
| 16 | g.1523531A>C | CA394225166 | IFT140 | c.3440T>G (p.Leu1147Arg) c.1022T>G (p.Leu341Arg) c.*1878T>G (n.*1878T>G) n.3264T>G c.1073T>G (p.Leu358Arg) c.3194T>G (p.Leu1065Arg) c.2465T>G (p.Leu822Arg) c.1625T>G (p.Leu542Arg) | |
| 16 | g.1523531A>G | CA394225167 | IFT140 | c.3440T>C (p.Leu1147Pro) c.1022T>C (p.Leu341Pro) c.*1878T>C (n.*1878T>C) n.3264T>C c.1073T>C (p.Leu358Pro) c.3194T>C (p.Leu1065Pro) c.2465T>C (p.Leu822Pro) c.1625T>C (p.Leu542Pro) | |
| 16 | g.1523531A>T | CA394225168 | IFT140 | c.3440T>A (p.Leu1147Gln) c.1022T>A (p.Leu341Gln) c.*1878T>A (n.*1878T>A) n.3264T>A c.1073T>A (p.Leu358Gln) c.3194T>A (p.Leu1065Gln) c.2465T>A (p.Leu822Gln) c.1625T>A (p.Leu542Gln) | |
| 16 | g.1523532G>A | CA7813174 | IFT140 | c.3439C>T (p.Leu1147=) c.1021C>T (p.Leu341=) c.*1877C>T (n.*1877C>T) n.3263C>T c.1072C>T (p.Leu358=) c.3193C>T (p.Leu1065=) c.2464C>T (p.Leu822=) c.1624C>T (p.Leu542=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523532G>C | CA394225169 | IFT140 | c.3439C>G (p.Leu1147Val) c.1021C>G (p.Leu341Val) c.*1877C>G (n.*1877C>G) n.3263C>G c.1072C>G (p.Leu358Val) c.3193C>G (p.Leu1065Val) c.2464C>G (p.Leu822Val) c.1624C>G (p.Leu542Val) | |
| 16 | g.1523532G= | CA2201697765 | IFT140 | c.3439C= (p.Leu1147=) c.1021C= (p.Leu341=) c.*1877C= (n.*1877C=) n.3263C= c.1072C= (p.Leu358=) c.3193C= (p.Leu1065=) c.2464C= (p.Leu822=) c.1624C= (p.Leu542=) | |
| 16 | g.1523532G>T | CA394225170 | IFT140 | c.3439C>A (p.Leu1147Met) c.1021C>A (p.Leu341Met) c.*1877C>A (n.*1877C>A) n.3263C>A c.1072C>A (p.Leu358Met) c.3193C>A (p.Leu1065Met) c.2464C>A (p.Leu822Met) c.1624C>A (p.Leu542Met) | |
| 16 | g.1523533C>A | CA493031689 | IFT140 | c.3438G>T (p.Leu1146=) c.1020G>T (p.Leu340=) c.*1876G>T (n.*1876G>T) n.3262G>T c.1071G>T (p.Leu357=) c.3192G>T (p.Leu1064=) c.2463G>T (p.Leu821=) c.1623G>T (p.Leu541=) | gnomAD v4 |
| 16 | g.1523533C>G | CA493031693 | IFT140 | c.3438G>C (p.Leu1146=) c.1020G>C (p.Leu340=) c.*1876G>C (n.*1876G>C) n.3262G>C c.1071G>C (p.Leu357=) c.3192G>C (p.Leu1064=) c.2463G>C (p.Leu821=) c.1623G>C (p.Leu541=) | |
| 16 | g.1523533C>T | CA493031694 | IFT140 | c.3438G>A (p.Leu1146=) c.1020G>A (p.Leu340=) c.*1876G>A (n.*1876G>A) n.3262G>A c.1071G>A (p.Leu357=) c.3192G>A (p.Leu1064=) c.2463G>A (p.Leu821=) c.1623G>A (p.Leu541=) | gnomAD v4 |
| 16 | g.1523534A>C | CA394225171 | IFT140 | c.3437T>G (p.Leu1146Arg) c.1019T>G (p.Leu340Arg) c.*1875T>G (n.*1875T>G) n.3261T>G c.1070T>G (p.Leu357Arg) c.3191T>G (p.Leu1064Arg) c.2462T>G (p.Leu821Arg) c.1622T>G (p.Leu541Arg) | |
| 16 | g.1523534A>G | CA394225172 | IFT140 | c.3437T>C (p.Leu1146Pro) c.1019T>C (p.Leu340Pro) c.*1875T>C (n.*1875T>C) n.3261T>C c.1070T>C (p.Leu357Pro) c.3191T>C (p.Leu1064Pro) c.2462T>C (p.Leu821Pro) c.1622T>C (p.Leu541Pro) | |
| 16 | g.1523534A>T | CA394225173 | IFT140 | c.3437T>A (p.Leu1146Gln) c.1019T>A (p.Leu340Gln) c.*1875T>A (n.*1875T>A) n.3261T>A c.1070T>A (p.Leu357Gln) c.3191T>A (p.Leu1064Gln) c.2462T>A (p.Leu821Gln) c.1622T>A (p.Leu541Gln) | |
| 16 | g.1523535G>A | CA493031705 | IFT140 | c.3436C>T (p.Leu1146=) c.1018C>T (p.Leu340=) c.*1874C>T (n.*1874C>T) n.3260C>T c.1069C>T (p.Leu357=) c.3190C>T (p.Leu1064=) c.2461C>T (p.Leu821=) c.1621C>T (p.Leu541=) | |
| 16 | g.1523535G>C | CA394225174 | IFT140 | c.3436C>G (p.Leu1146Val) c.1018C>G (p.Leu340Val) c.*1874C>G (n.*1874C>G) n.3260C>G c.1069C>G (p.Leu357Val) c.3190C>G (p.Leu1064Val) c.2461C>G (p.Leu821Val) c.1621C>G (p.Leu541Val) | |
| 16 | g.1523535G>T | CA394225175 | IFT140 | c.3436C>A (p.Leu1146Met) c.1018C>A (p.Leu340Met) c.*1874C>A (n.*1874C>A) n.3260C>A c.1069C>A (p.Leu357Met) c.3190C>A (p.Leu1064Met) c.2461C>A (p.Leu821Met) c.1621C>A (p.Leu541Met) | |
| 16 | g.1523536C>A | CA493031709 | IFT140 | c.3435G>T (p.Leu1145=) c.1017G>T (p.Leu339=) c.*1873G>T (n.*1873G>T) n.3259G>T c.1068G>T (p.Leu356=) c.3189G>T (p.Leu1063=) c.2460G>T (p.Leu820=) c.1620G>T (p.Leu540=) | gnomAD v4 |
| 16 | g.1523536C= | CA2201697766 | IFT140 | c.3435G= (p.Leu1145=) c.1017G= (p.Leu339=) c.*1873G= (n.*1873G=) n.3259G= c.1068G= (p.Leu356=) c.3189G= (p.Leu1063=) c.2460G= (p.Leu820=) c.1620G= (p.Leu540=) | |
| 16 | g.1523536C>G | CA493031708 | IFT140 | c.3435G>C (p.Leu1145=) c.1017G>C (p.Leu339=) c.*1873G>C (n.*1873G>C) n.3259G>C c.1068G>C (p.Leu356=) c.3189G>C (p.Leu1063=) c.2460G>C (p.Leu820=) c.1620G>C (p.Leu540=) | |
| 16 | g.1523536C>T | CA493031707 | IFT140 | c.3435G>A (p.Leu1145=) c.1017G>A (p.Leu339=) c.*1873G>A (n.*1873G>A) n.3259G>A c.1068G>A (p.Leu356=) c.3189G>A (p.Leu1063=) c.2460G>A (p.Leu820=) c.1620G>A (p.Leu540=) | dbSNP gnomAD v4 |
| 16 | g.1523537A>C | CA394225178 | IFT140 | c.3434T>G (p.Leu1145Arg) c.1016T>G (p.Leu339Arg) c.*1872T>G (n.*1872T>G) n.3258T>G c.1067T>G (p.Leu356Arg) c.3188T>G (p.Leu1063Arg) c.2459T>G (p.Leu820Arg) c.1619T>G (p.Leu540Arg) | |
| 16 | g.1523537A>G | CA394225177 | IFT140 | c.3434T>C (p.Leu1145Pro) c.1016T>C (p.Leu339Pro) c.*1872T>C (n.*1872T>C) n.3258T>C c.1067T>C (p.Leu356Pro) c.3188T>C (p.Leu1063Pro) c.2459T>C (p.Leu820Pro) c.1619T>C (p.Leu540Pro) | |
| 16 | g.1523537A>T | CA394225176 | IFT140 | c.3434T>A (p.Leu1145Gln) c.1016T>A (p.Leu339Gln) c.*1872T>A (n.*1872T>A) n.3258T>A c.1067T>A (p.Leu356Gln) c.3188T>A (p.Leu1063Gln) c.2459T>A (p.Leu820Gln) c.1619T>A (p.Leu540Gln) | |
| 16 | g.1523538G>A | CA493031715 | IFT140 | c.3433C>T (p.Leu1145=) c.1015C>T (p.Leu339=) c.*1871C>T (n.*1871C>T) n.3257C>T c.1066C>T (p.Leu356=) c.3187C>T (p.Leu1063=) c.2458C>T (p.Leu820=) c.1618C>T (p.Leu540=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523538G>C | CA394225179 | IFT140 | c.3433C>G (p.Leu1145Val) c.1015C>G (p.Leu339Val) c.*1871C>G (n.*1871C>G) n.3257C>G c.1066C>G (p.Leu356Val) c.3187C>G (p.Leu1063Val) c.2458C>G (p.Leu820Val) c.1618C>G (p.Leu540Val) | |
| 16 | g.1523538G= | CA2201697767 | IFT140 | c.3433C= (p.Leu1145=) c.1015C= (p.Leu339=) c.*1871C= (n.*1871C=) n.3257C= c.1066C= (p.Leu356=) c.3187C= (p.Leu1063=) c.2458C= (p.Leu820=) c.1618C= (p.Leu540=) | |
| 16 | g.1523538G>T | CA394225180 | IFT140 | c.3433C>A (p.Leu1145Met) c.1015C>A (p.Leu339Met) c.*1871C>A (n.*1871C>A) n.3257C>A c.1066C>A (p.Leu356Met) c.3187C>A (p.Leu1063Met) c.2458C>A (p.Leu820Met) c.1618C>A (p.Leu540Met) | |
| 16 | g.1523539C>A | CA394225181 | IFT140 | c.3432G>T (p.Glu1144Asp) c.1014G>T (p.Glu338Asp) c.*1870G>T (n.*1870G>T) n.3256G>T c.1065G>T (p.Glu355Asp) c.3186G>T (p.Glu1062Asp) c.2457G>T (p.Glu819Asp) c.1617G>T (p.Glu539Asp) | |
| 16 | g.1523539C>G | CA394225182 | IFT140 | c.3432G>C (p.Glu1144Asp) c.1014G>C (p.Glu338Asp) c.*1870G>C (n.*1870G>C) n.3256G>C c.1065G>C (p.Glu355Asp) c.3186G>C (p.Glu1062Asp) c.2457G>C (p.Glu819Asp) c.1617G>C (p.Glu539Asp) | |
| 16 | g.1523539C>T | CA493031717 | IFT140 | c.3432G>A (p.Glu1144=) c.1014G>A (p.Glu338=) c.*1870G>A (n.*1870G>A) n.3256G>A c.1065G>A (p.Glu355=) c.3186G>A (p.Glu1062=) c.2457G>A (p.Glu819=) c.1617G>A (p.Glu539=) | |
| 16 | g.1523540T>A | CA394225183 | IFT140 | c.3431A>T (p.Glu1144Val) c.1013A>T (p.Glu338Val) c.*1869A>T (n.*1869A>T) n.3255A>T c.1064A>T (p.Glu355Val) c.3185A>T (p.Glu1062Val) c.2456A>T (p.Glu819Val) c.1616A>T (p.Glu539Val) | |
| 16 | g.1523540T>C | CA394225184 | IFT140 | c.3431A>G (p.Glu1144Gly) c.1013A>G (p.Glu338Gly) c.*1869A>G (n.*1869A>G) n.3255A>G c.1064A>G (p.Glu355Gly) c.3185A>G (p.Glu1062Gly) c.2456A>G (p.Glu819Gly) c.1616A>G (p.Glu539Gly) | |
| 16 | g.1523540T>G | CA394225185 | IFT140 | c.3431A>C (p.Glu1144Ala) c.1013A>C (p.Glu338Ala) c.*1869A>C (n.*1869A>C) n.3255A>C c.1064A>C (p.Glu355Ala) c.3185A>C (p.Glu1062Ala) c.2456A>C (p.Glu819Ala) c.1616A>C (p.Glu539Ala) | |
| 16 | g.1523540_1523541delinsAT | CA2580090473 | IFT140 | c.3430_3431delinsAT (p.Glu1144Met) c.1012_1013delinsAT (p.Glu338Met) c.*1868_*1869delinsAT (n.*1868_*1869delinsAT) n.3254_3255delinsAT c.1063_1064delinsAT (p.Glu355Met) c.3184_3185delinsAT (p.Glu1062Met) c.2455_2456delinsAT (p.Glu819Met) c.1615_1616delinsAT (p.Glu539Met) | ClinVar |
| 16 | g.1523541C>A | CA394225186 | IFT140 | c.3430G>T (p.Glu1144Ter) c.1012G>T (p.Glu338Ter) c.*1868G>T (n.*1868G>T) n.3254G>T c.1063G>T (p.Glu355Ter) c.3184G>T (p.Glu1062Ter) c.2455G>T (p.Glu819Ter) c.1615G>T (p.Glu539Ter) | |
| 16 | g.1523541C>G | CA394225187 | IFT140 | c.3430G>C (p.Glu1144Gln) c.1012G>C (p.Glu338Gln) c.*1868G>C (n.*1868G>C) n.3254G>C c.1063G>C (p.Glu355Gln) c.3184G>C (p.Glu1062Gln) c.2455G>C (p.Glu819Gln) c.1615G>C (p.Glu539Gln) | |
| 16 | g.1523541C>T | CA394225188 | IFT140 | c.3430G>A (p.Glu1144Lys) c.1012G>A (p.Glu338Lys) c.*1868G>A (n.*1868G>A) n.3254G>A c.1063G>A (p.Glu355Lys) c.3184G>A (p.Glu1062Lys) c.2455G>A (p.Glu819Lys) c.1615G>A (p.Glu539Lys) | gnomAD v4 |
| 16 | g.1523542T>A | CA493031729 | IFT140 | c.3429A>T (p.Val1143=) c.1011A>T (p.Val337=) c.*1867A>T (n.*1867A>T) n.3253A>T c.1062A>T (p.Val354=) c.3183A>T (p.Val1061=) c.2454A>T (p.Val818=) c.1614A>T (p.Val538=) | |
| 16 | g.1523542T>C | CA493031730 | IFT140 | c.3429A>G (p.Val1143=) c.1011A>G (p.Val337=) c.*1867A>G (n.*1867A>G) n.3253A>G c.1062A>G (p.Val354=) c.3183A>G (p.Val1061=) c.2454A>G (p.Val818=) c.1614A>G (p.Val538=) | |
| 16 | g.1523542T>G | CA493031731 | IFT140 | c.3429A>C (p.Val1143=) c.1011A>C (p.Val337=) c.*1867A>C (n.*1867A>C) n.3253A>C c.1062A>C (p.Val354=) c.3183A>C (p.Val1061=) c.2454A>C (p.Val818=) c.1614A>C (p.Val538=) | |
| 16 | g.1523543A>C | CA394225189 | IFT140 | c.3428T>G (p.Val1143Gly) c.1010T>G (p.Val337Gly) c.*1866T>G (n.*1866T>G) n.3252T>G c.1061T>G (p.Val354Gly) c.3182T>G (p.Val1061Gly) c.2453T>G (p.Val818Gly) c.1613T>G (p.Val538Gly) | |
| 16 | g.1523543A>G | CA394225190 | IFT140 | c.3428T>C (p.Val1143Ala) c.1010T>C (p.Val337Ala) c.*1866T>C (n.*1866T>C) n.3252T>C c.1061T>C (p.Val354Ala) c.3182T>C (p.Val1061Ala) c.2453T>C (p.Val818Ala) c.1613T>C (p.Val538Ala) | gnomAD v4 |
| 16 | g.1523543A>T | CA394225191 | IFT140 | c.3428T>A (p.Val1143Glu) c.1010T>A (p.Val337Glu) c.*1866T>A (n.*1866T>A) n.3252T>A c.1061T>A (p.Val354Glu) c.3182T>A (p.Val1061Glu) c.2453T>A (p.Val818Glu) c.1613T>A (p.Val538Glu) | |
| 16 | g.1523544C>A | CA394225193 | IFT140 | c.3427G>T (p.Val1143Leu) c.1009G>T (p.Val337Leu) c.*1865G>T (n.*1865G>T) n.3251G>T c.1060G>T (p.Val354Leu) c.3181G>T (p.Val1061Leu) c.2452G>T (p.Val818Leu) c.1612G>T (p.Val538Leu) | |
| 16 | g.1523544C>G | CA394225194 | IFT140 | c.3427G>C (p.Val1143Leu) c.1009G>C (p.Val337Leu) c.*1865G>C (n.*1865G>C) n.3251G>C c.1060G>C (p.Val354Leu) c.3181G>C (p.Val1061Leu) c.2452G>C (p.Val818Leu) c.1612G>C (p.Val538Leu) | |
| 16 | g.1523544C>T | CA394225192 | IFT140 | c.3427G>A (p.Val1143Ile) c.1009G>A (p.Val337Ile) c.*1865G>A (n.*1865G>A) n.3251G>A c.1060G>A (p.Val354Ile) c.3181G>A (p.Val1061Ile) c.2452G>A (p.Val818Ile) c.1612G>A (p.Val538Ile) | gnomAD v4 |
| 16 | g.1523545C>A | CA493031737 | IFT140 | c.3426G>T (p.Ala1142=) c.1008G>T (p.Ala336=) c.*1864G>T (n.*1864G>T) n.3250G>T c.1059G>T (p.Ala353=) c.3180G>T (p.Ala1060=) c.2451G>T (p.Ala817=) c.1611G>T (p.Ala537=) | |
| 16 | g.1523545C= | CA2201697768 | IFT140 | c.3426G= (p.Ala1142=) c.1008G= (p.Ala336=) c.*1864G= (n.*1864G=) n.3250G= c.1059G= (p.Ala353=) c.3180G= (p.Ala1060=) c.2451G= (p.Ala817=) c.1611G= (p.Ala537=) | |
| 16 | g.1523545C>G | CA493031739 | IFT140 | c.3426G>C (p.Ala1142=) c.1008G>C (p.Ala336=) c.*1864G>C (n.*1864G>C) n.3250G>C c.1059G>C (p.Ala353=) c.3180G>C (p.Ala1060=) c.2451G>C (p.Ala817=) c.1611G>C (p.Ala537=) | |
| 16 | g.1523545C>T | CA7813175 | IFT140 | c.3426G>A (p.Ala1142=) c.1008G>A (p.Ala336=) c.*1864G>A (n.*1864G>A) n.3250G>A c.1059G>A (p.Ala353=) c.3180G>A (p.Ala1060=) c.2451G>A (p.Ala817=) c.1611G>A (p.Ala537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523546G>A | CA7813176 | IFT140 | c.3425C>T (p.Ala1142Val) c.1007C>T (p.Ala336Val) c.*1863C>T (n.*1863C>T) n.3249C>T c.1058C>T (p.Ala353Val) c.3179C>T (p.Ala1060Val) c.2450C>T (p.Ala817Val) c.1610C>T (p.Ala537Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523546G>C | CA394225195 | IFT140 | c.3425C>G (p.Ala1142Gly) c.1007C>G (p.Ala336Gly) c.*1863C>G (n.*1863C>G) n.3249C>G c.1058C>G (p.Ala353Gly) c.3179C>G (p.Ala1060Gly) c.2450C>G (p.Ala817Gly) c.1610C>G (p.Ala537Gly) | |
| 16 | g.1523546G= | CA2201697769 | IFT140 | c.3425C= (p.Ala1142=) c.1007C= (p.Ala336=) c.*1863C= (n.*1863C=) n.3249C= c.1058C= (p.Ala353=) c.3179C= (p.Ala1060=) c.2450C= (p.Ala817=) c.1610C= (p.Ala537=) | |
| 16 | g.1523546G>T | CA394225196 | IFT140 | c.3425C>A (p.Ala1142Glu) c.1007C>A (p.Ala336Glu) c.*1863C>A (n.*1863C>A) n.3249C>A c.1058C>A (p.Ala353Glu) c.3179C>A (p.Ala1060Glu) c.2450C>A (p.Ala817Glu) c.1610C>A (p.Ala537Glu) | dbSNP |
| 16 | g.1523547C>A | CA394225197 | IFT140 | c.3424G>T (p.Ala1142Ser) c.1006G>T (p.Ala336Ser) c.*1862G>T (n.*1862G>T) n.3248G>T c.1057G>T (p.Ala353Ser) c.3178G>T (p.Ala1060Ser) c.2449G>T (p.Ala817Ser) c.1609G>T (p.Ala537Ser) | |
| 16 | g.1523547C= | CA2201697770 | IFT140 | c.3424G= (p.Ala1142=) c.1006G= (p.Ala336=) c.*1862G= (n.*1862G=) n.3248G= c.1057G= (p.Ala353=) c.3178G= (p.Ala1060=) c.2449G= (p.Ala817=) c.1609G= (p.Ala537=) | |
| 16 | g.1523547C>G | CA394225198 | IFT140 | c.3424G>C (p.Ala1142Pro) c.1006G>C (p.Ala336Pro) c.*1862G>C (n.*1862G>C) n.3248G>C c.1057G>C (p.Ala353Pro) c.3178G>C (p.Ala1060Pro) c.2449G>C (p.Ala817Pro) c.1609G>C (p.Ala537Pro) | |
| 16 | g.1523547C>T | CA394225199 | IFT140 | c.3424G>A (p.Ala1142Thr) c.1006G>A (p.Ala336Thr) c.*1862G>A (n.*1862G>A) n.3248G>A c.1057G>A (p.Ala353Thr) c.3178G>A (p.Ala1060Thr) c.2449G>A (p.Ala817Thr) c.1609G>A (p.Ala537Thr) | dbSNP |
| 16 | g.1523548C>A | CA394225200 | IFT140 | c.3423G>T (p.Arg1141Ser) c.1005G>T (p.Arg335Ser) c.*1861G>T (n.*1861G>T) n.3247G>T c.1056G>T (p.Arg352Ser) c.3177G>T (p.Arg1059Ser) c.2448G>T (p.Arg816Ser) c.1608G>T (p.Arg536Ser) | |
| 16 | g.1523548C>G | CA394225201 | IFT140 | c.3423G>C (p.Arg1141Ser) c.1005G>C (p.Arg335Ser) c.*1861G>C (n.*1861G>C) n.3247G>C c.1056G>C (p.Arg352Ser) c.3177G>C (p.Arg1059Ser) c.2448G>C (p.Arg816Ser) c.1608G>C (p.Arg536Ser) | |
| 16 | g.1523548C>T | CA493031744 | IFT140 | c.3423G>A (p.Arg1141=) c.1005G>A (p.Arg335=) c.*1861G>A (n.*1861G>A) n.3247G>A c.1056G>A (p.Arg352=) c.3177G>A (p.Arg1059=) c.2448G>A (p.Arg816=) c.1608G>A (p.Arg536=) | |
| 16 | g.1523549C>A | CA394225202 | IFT140 | c.3422G>T (p.Arg1141Met) c.1004G>T (p.Arg335Met) c.*1860G>T (n.*1860G>T) n.3246G>T c.1055G>T (p.Arg352Met) c.3176G>T (p.Arg1059Met) c.2447G>T (p.Arg816Met) c.1607G>T (p.Arg536Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523549C= | CA2201697771 | IFT140 | c.3422G= (p.Arg1141=) c.1004G= (p.Arg335=) c.*1860G= (n.*1860G=) n.3246G= c.1055G= (p.Arg352=) c.3176G= (p.Arg1059=) c.2447G= (p.Arg816=) c.1607G= (p.Arg536=) | |
| 16 | g.1523549C>G | CA394225203 | IFT140 | c.3422G>C (p.Arg1141Thr) c.1004G>C (p.Arg335Thr) c.*1860G>C (n.*1860G>C) n.3246G>C c.1055G>C (p.Arg352Thr) c.3176G>C (p.Arg1059Thr) c.2447G>C (p.Arg816Thr) c.1607G>C (p.Arg536Thr) | |
| 16 | g.1523549C>T | CA394225204 | IFT140 | c.3422G>A (p.Arg1141Lys) c.1004G>A (p.Arg335Lys) c.*1860G>A (n.*1860G>A) n.3246G>A c.1055G>A (p.Arg352Lys) c.3176G>A (p.Arg1059Lys) c.2447G>A (p.Arg816Lys) c.1607G>A (p.Arg536Lys) | ClinVar |
| 16 | g.1523550T>A | CA394225205 | IFT140 | c.3421A>T (p.Arg1141Trp) c.1003A>T (p.Arg335Trp) c.*1859A>T (n.*1859A>T) n.3245A>T c.1054A>T (p.Arg352Trp) c.3175A>T (p.Arg1059Trp) c.2446A>T (p.Arg816Trp) c.1606A>T (p.Arg536Trp) | |
| 16 | g.1523550T>C | CA394225206 | IFT140 | c.3421A>G (p.Arg1141Gly) c.1003A>G (p.Arg335Gly) c.*1859A>G (n.*1859A>G) n.3245A>G c.1054A>G (p.Arg352Gly) c.3175A>G (p.Arg1059Gly) c.2446A>G (p.Arg816Gly) c.1606A>G (p.Arg536Gly) | |
| 16 | g.1523550T>G | CA493031748 | IFT140 | c.3421A>C (p.Arg1141=) c.1003A>C (p.Arg335=) c.*1859A>C (n.*1859A>C) n.3245A>C c.1054A>C (p.Arg352=) c.3175A>C (p.Arg1059=) c.2446A>C (p.Arg816=) c.1606A>C (p.Arg536=) | |
| 16 | g.1523551C>A | CA394225207 | IFT140 | c.3420G>T (p.Glu1140Asp) c.1002G>T (p.Glu334Asp) c.*1858G>T (n.*1858G>T) n.3244G>T c.1053G>T (p.Glu351Asp) c.3174G>T (p.Glu1058Asp) c.2445G>T (p.Glu815Asp) c.1605G>T (p.Glu535Asp) | |
| 16 | g.1523551C= | CA2201697772 | IFT140 | c.3420G= (p.Glu1140=) c.1002G= (p.Glu334=) c.*1858G= (n.*1858G=) n.3244G= c.1053G= (p.Glu351=) c.3174G= (p.Glu1058=) c.2445G= (p.Glu815=) c.1605G= (p.Glu535=) | |
| 16 | g.1523551C>G | CA394225208 | IFT140 | c.3420G>C (p.Glu1140Asp) c.1002G>C (p.Glu334Asp) c.*1858G>C (n.*1858G>C) n.3244G>C c.1053G>C (p.Glu351Asp) c.3174G>C (p.Glu1058Asp) c.2445G>C (p.Glu815Asp) c.1605G>C (p.Glu535Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523551C>T | CA7813177 | IFT140 | c.3420G>A (p.Glu1140=) c.1002G>A (p.Glu334=) c.*1858G>A (n.*1858G>A) n.3244G>A c.1053G>A (p.Glu351=) c.3174G>A (p.Glu1058=) c.2445G>A (p.Glu815=) c.1605G>A (p.Glu535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523552T>A | CA394225209 | IFT140 | c.3419A>T (p.Glu1140Val) c.1001A>T (p.Glu334Val) c.*1857A>T (n.*1857A>T) n.3243A>T c.1052A>T (p.Glu351Val) c.3173A>T (p.Glu1058Val) c.2444A>T (p.Glu815Val) c.1604A>T (p.Glu535Val) | |
| 16 | g.1523552T>C | CA394225210 | IFT140 | c.3419A>G (p.Glu1140Gly) c.1001A>G (p.Glu334Gly) c.*1857A>G (n.*1857A>G) n.3243A>G c.1052A>G (p.Glu351Gly) c.3173A>G (p.Glu1058Gly) c.2444A>G (p.Glu815Gly) c.1604A>G (p.Glu535Gly) | dbSNP |
| 16 | g.1523552T>G | CA394225211 | IFT140 | c.3419A>C (p.Glu1140Ala) c.1001A>C (p.Glu334Ala) c.*1857A>C (n.*1857A>C) n.3243A>C c.1052A>C (p.Glu351Ala) c.3173A>C (p.Glu1058Ala) c.2444A>C (p.Glu815Ala) c.1604A>C (p.Glu535Ala) | gnomAD v4 |
| 16 | g.1523552T= | CA2201697773 | IFT140 | c.3419A= (p.Glu1140=) c.1001A= (p.Glu334=) c.*1857A= (n.*1857A=) n.3243A= c.1052A= (p.Glu351=) c.3173A= (p.Glu1058=) c.2444A= (p.Glu815=) c.1604A= (p.Glu535=) | |
| 16 | g.1523553C>A | CA394225212 | IFT140 | c.3418G>T (p.Glu1140Ter) c.1000G>T (p.Glu334Ter) c.*1856G>T (n.*1856G>T) n.3242G>T c.1051G>T (p.Glu351Ter) c.3172G>T (p.Glu1058Ter) c.2443G>T (p.Glu815Ter) c.1603G>T (p.Glu535Ter) | gnomAD v4 |
| 16 | g.1523553C= | CA2201697774 | IFT140 | c.3418G= (p.Glu1140=) c.1000G= (p.Glu334=) c.*1856G= (n.*1856G=) n.3242G= c.1051G= (p.Glu351=) c.3172G= (p.Glu1058=) c.2443G= (p.Glu815=) c.1603G= (p.Glu535=) | |
| 16 | g.1523553C>G | CA394225213 | IFT140 | c.3418G>C (p.Glu1140Gln) c.1000G>C (p.Glu334Gln) c.*1856G>C (n.*1856G>C) n.3242G>C c.1051G>C (p.Glu351Gln) c.3172G>C (p.Glu1058Gln) c.2443G>C (p.Glu815Gln) c.1603G>C (p.Glu535Gln) | dbSNP |
| 16 | g.1523553C>T | CA7813178 | IFT140 | c.3418G>A (p.Glu1140Lys) c.1000G>A (p.Glu334Lys) c.*1856G>A (n.*1856G>A) n.3242G>A c.1051G>A (p.Glu351Lys) c.3172G>A (p.Glu1058Lys) c.2443G>A (p.Glu815Lys) c.1603G>A (p.Glu535Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523554G>A | CA7813179 | IFT140 | c.3417C>T (p.Tyr1139=) c.999C>T (p.Tyr333=) c.*1855C>T (n.*1855C>T) n.3241C>T c.1050C>T (p.Tyr350=) c.3171C>T (p.Tyr1057=) c.2442C>T (p.Tyr814=) c.1602C>T (p.Tyr534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1523554G>C | CA394225214 | IFT140 | c.3417C>G (p.Tyr1139Ter) c.999C>G (p.Tyr333Ter) c.*1855C>G (n.*1855C>G) n.3241C>G c.1050C>G (p.Tyr350Ter) c.3171C>G (p.Tyr1057Ter) c.2442C>G (p.Tyr814Ter) c.1602C>G (p.Tyr534Ter) | |
| 16 | g.1523554G= | CA2201697775 | IFT140 | c.3417C= (p.Tyr1139=) c.999C= (p.Tyr333=) c.*1855C= (n.*1855C=) n.3241C= c.1050C= (p.Tyr350=) c.3171C= (p.Tyr1057=) c.2442C= (p.Tyr814=) c.1602C= (p.Tyr534=) | |
| 16 | g.1523554G>T | CA394225215 | IFT140 | c.3417C>A (p.Tyr1139Ter) c.999C>A (p.Tyr333Ter) c.*1855C>A (n.*1855C>A) n.3241C>A c.1050C>A (p.Tyr350Ter) c.3171C>A (p.Tyr1057Ter) c.2442C>A (p.Tyr814Ter) c.1602C>A (p.Tyr534Ter) | |
| 16 | g.1523555T>A | CA394225216 | IFT140 | c.3416A>T (p.Tyr1139Phe) c.998A>T (p.Tyr333Phe) c.*1854A>T (n.*1854A>T) n.3240A>T c.1049A>T (p.Tyr350Phe) c.3170A>T (p.Tyr1057Phe) c.2441A>T (p.Tyr814Phe) c.1601A>T (p.Tyr534Phe) | |
| 16 | g.1523555T>C | CA394225217 | IFT140 | c.3416A>G (p.Tyr1139Cys) c.998A>G (p.Tyr333Cys) c.*1854A>G (n.*1854A>G) n.3240A>G c.1049A>G (p.Tyr350Cys) c.3170A>G (p.Tyr1057Cys) c.2441A>G (p.Tyr814Cys) c.1601A>G (p.Tyr534Cys) | |
| 16 | g.1523555T>G | CA394225218 | IFT140 | c.3416A>C (p.Tyr1139Ser) c.998A>C (p.Tyr333Ser) c.*1854A>C (n.*1854A>C) n.3240A>C c.1049A>C (p.Tyr350Ser) c.3170A>C (p.Tyr1057Ser) c.2441A>C (p.Tyr814Ser) c.1601A>C (p.Tyr534Ser) | |
| 16 | g.1523556A>C | CA394225219 | IFT140 | c.3415T>G (p.Tyr1139Asp) c.997T>G (p.Tyr333Asp) c.*1853T>G (n.*1853T>G) n.3239T>G c.1048T>G (p.Tyr350Asp) c.3169T>G (p.Tyr1057Asp) c.2440T>G (p.Tyr814Asp) c.1600T>G (p.Tyr534Asp) | |
| 16 | g.1523556A>G | CA394225221 | IFT140 | c.3415T>C (p.Tyr1139His) c.997T>C (p.Tyr333His) c.*1853T>C (n.*1853T>C) n.3239T>C c.1048T>C (p.Tyr350His) c.3169T>C (p.Tyr1057His) c.2440T>C (p.Tyr814His) c.1600T>C (p.Tyr534His) | |
| 16 | g.1523556A>T | CA394225220 | IFT140 | c.3415T>A (p.Tyr1139Asn) c.997T>A (p.Tyr333Asn) c.*1853T>A (n.*1853T>A) n.3239T>A c.1048T>A (p.Tyr350Asn) c.3169T>A (p.Tyr1057Asn) c.2440T>A (p.Tyr814Asn) c.1600T>A (p.Tyr534Asn) | |
| 16 | g.1523557C>A | CA394225222 | IFT140 | c.3414G>T (p.Gln1138His) c.996G>T (p.Gln332His) c.*1852G>T (n.*1852G>T) n.3238G>T c.1047G>T (p.Gln349His) c.3168G>T (p.Gln1056His) c.2439G>T (p.Gln813His) c.1599G>T (p.Gln533His) | |
| 16 | g.1523557C= | CA2201697776 | IFT140 | c.3414G= (p.Gln1138=) c.996G= (p.Gln332=) c.*1852G= (n.*1852G=) n.3238G= c.1047G= (p.Gln349=) c.3168G= (p.Gln1056=) c.2439G= (p.Gln813=) c.1599G= (p.Gln533=) | |
| 16 | g.1523557C>G | CA394225223 | IFT140 | c.3414G>C (p.Gln1138His) c.996G>C (p.Gln332His) c.*1852G>C (n.*1852G>C) n.3238G>C c.1047G>C (p.Gln349His) c.3168G>C (p.Gln1056His) c.2439G>C (p.Gln813His) c.1599G>C (p.Gln533His) | |
| 16 | g.1523557C>T | CA7813180 | IFT140 | c.3414G>A (p.Gln1138=) c.996G>A (p.Gln332=) c.*1852G>A (n.*1852G>A) n.3238G>A c.1047G>A (p.Gln349=) c.3168G>A (p.Gln1056=) c.2439G>A (p.Gln813=) c.1599G>A (p.Gln533=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523557_1523558delinsCT | CA2201697777 | IFT140 | c.3413_3414delinsAG (p.Gln1138=) c.995_996delinsAG (p.Gln332=) c.*1851_*1852delinsAG (n.*1851_*1852delinsAG) n.3237_3238delinsAG c.1046_1047delinsAG (p.Gln349=) c.3167_3168delinsAG (p.Gln1056=) c.2438_2439delinsAG (p.Gln813=) c.1598_1599delinsAG (p.Gln533=) | |
| 16 | g.1523557_1523558delinsTA | CA891863054 | IFT140 | c.3413_3414delinsTA (p.Gln1138Leu) c.995_996delinsTA (p.Gln332Leu) c.*1851_*1852delinsTA (n.*1851_*1852delinsTA) n.3237_3238delinsTA c.1046_1047delinsTA (p.Gln349Leu) c.3167_3168delinsTA (p.Gln1056Leu) c.2438_2439delinsTA (p.Gln813Leu) c.1598_1599delinsTA (p.Gln533Leu) | ClinVar dbSNP |
| 16 | g.1523558T>A | CA7813181 | IFT140 | c.3413A>T (p.Gln1138Leu) c.995A>T (p.Gln332Leu) c.*1851A>T (n.*1851A>T) n.3237A>T c.1046A>T (p.Gln349Leu) c.3167A>T (p.Gln1056Leu) c.2438A>T (p.Gln813Leu) c.1598A>T (p.Gln533Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523558T>C | CA394225224 | IFT140 | c.3413A>G (p.Gln1138Arg) c.995A>G (p.Gln332Arg) c.*1851A>G (n.*1851A>G) n.3237A>G c.1046A>G (p.Gln349Arg) c.3167A>G (p.Gln1056Arg) c.2438A>G (p.Gln813Arg) c.1598A>G (p.Gln533Arg) | dbSNP |
| 16 | g.1523558T>G | CA394225225 | IFT140 | c.3413A>C (p.Gln1138Pro) c.995A>C (p.Gln332Pro) c.*1851A>C (n.*1851A>C) n.3237A>C c.1046A>C (p.Gln349Pro) c.3167A>C (p.Gln1056Pro) c.2438A>C (p.Gln813Pro) c.1598A>C (p.Gln533Pro) | |
| 16 | g.1523558T= | CA2201697778 | IFT140 | c.3413A= (p.Gln1138=) c.995A= (p.Gln332=) c.*1851A= (n.*1851A=) n.3237A= c.1046A= (p.Gln349=) c.3167A= (p.Gln1056=) c.2438A= (p.Gln813=) c.1598A= (p.Gln533=) | |
| 16 | g.1523559G>A | CA394225228 | IFT140 | c.3412C>T (p.Gln1138Ter) c.994C>T (p.Gln332Ter) c.*1850C>T (n.*1850C>T) n.3236C>T c.1045C>T (p.Gln349Ter) c.3166C>T (p.Gln1056Ter) c.2437C>T (p.Gln813Ter) c.1597C>T (p.Gln533Ter) | |
| 16 | g.1523559G>C | CA394225226 | IFT140 | c.3412C>G (p.Gln1138Glu) c.994C>G (p.Gln332Glu) c.*1850C>G (n.*1850C>G) n.3236C>G c.1045C>G (p.Gln349Glu) c.3166C>G (p.Gln1056Glu) c.2437C>G (p.Gln813Glu) c.1597C>G (p.Gln533Glu) | |
| 16 | g.1523559G>T | CA394225227 | IFT140 | c.3412C>A (p.Gln1138Lys) c.994C>A (p.Gln332Lys) c.*1850C>A (n.*1850C>A) n.3236C>A c.1045C>A (p.Gln349Lys) c.3166C>A (p.Gln1056Lys) c.2437C>A (p.Gln813Lys) c.1597C>A (p.Gln533Lys) | gnomAD v4 |
| 16 | g.1523560A= | CA2201697779 | IFT140 | c.3411T= (p.Ser1137=) c.993T= (p.Ser331=) c.*1849T= (n.*1849T=) n.3235T= c.1044T= (p.Ser348=) c.3165T= (p.Ser1055=) c.2436T= (p.Ser812=) c.1596T= (p.Ser532=) | |
| 16 | g.1523560A>C | CA394225229 | IFT140 | c.3411T>G (p.Ser1137Arg) c.993T>G (p.Ser331Arg) c.*1849T>G (n.*1849T>G) n.3235T>G c.1044T>G (p.Ser348Arg) c.3165T>G (p.Ser1055Arg) c.2436T>G (p.Ser812Arg) c.1596T>G (p.Ser532Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523560A>G | CA493031770 | IFT140 | c.3411T>C (p.Ser1137=) c.993T>C (p.Ser331=) c.*1849T>C (n.*1849T>C) n.3235T>C c.1044T>C (p.Ser348=) c.3165T>C (p.Ser1055=) c.2436T>C (p.Ser812=) c.1596T>C (p.Ser532=) | gnomAD v4 |
| 16 | g.1523560A>T | CA394225230 | IFT140 | c.3411T>A (p.Ser1137Arg) c.993T>A (p.Ser331Arg) c.*1849T>A (n.*1849T>A) n.3235T>A c.1044T>A (p.Ser348Arg) c.3165T>A (p.Ser1055Arg) c.2436T>A (p.Ser812Arg) c.1596T>A (p.Ser532Arg) | |
| 16 | g.1523560dup | CA2631007149 | IFT140 | c.3411dup (p.Gln1138SerfsTer?) c.993dup (p.Gln332SerfsTer?) c.*1849dup (n.*1849dup) n.3235dup c.1044dup (p.Gln349SerfsTer?) c.3165dup (p.Gln1056SerfsTer?) c.2436dup (p.Gln813SerfsTer?) c.1596dup (p.Gln533SerfsTer?) | gnomAD v4 |
| 16 | g.1523561C>A | CA394225231 | IFT140 | c.3410G>T (p.Ser1137Ile) c.992G>T (p.Ser331Ile) c.*1848G>T (n.*1848G>T) n.3234G>T c.1043G>T (p.Ser348Ile) c.3164G>T (p.Ser1055Ile) c.2435G>T (p.Ser812Ile) c.1595G>T (p.Ser532Ile) | |
| 16 | g.1523561C>G | CA394225232 | IFT140 | c.3410G>C (p.Ser1137Thr) c.992G>C (p.Ser331Thr) c.*1848G>C (n.*1848G>C) n.3234G>C c.1043G>C (p.Ser348Thr) c.3164G>C (p.Ser1055Thr) c.2435G>C (p.Ser812Thr) c.1595G>C (p.Ser532Thr) | |
| 16 | g.1523561C>T | CA394225233 | IFT140 | c.3410G>A (p.Ser1137Asn) c.992G>A (p.Ser331Asn) c.*1848G>A (n.*1848G>A) n.3234G>A c.1043G>A (p.Ser348Asn) c.3164G>A (p.Ser1055Asn) c.2435G>A (p.Ser812Asn) c.1595G>A (p.Ser532Asn) | |
| 16 | g.1523561_1523562del | CA2805559214 | IFT140 | c.3409_3410del (p.Gln1138ValfsTer?) c.991_992del (p.Gln332ValfsTer?) c.*1847_*1848del (n.*1847_*1848del) n.3233_3234del c.1042_1043del (p.Gln349ValfsTer?) c.3163_3164del (p.Gln1056ValfsTer?) c.2434_2435del (p.Gln813ValfsTer?) c.1594_1595del (p.Gln533ValfsTer?) | |
| 16 | g.1523561_1523563delinsCTG | CA2201697780 | IFT140 | c.3408_3410delinsCAG (p.His1136=) c.990_992delinsCAG (p.His330=) c.*1846_*1848delinsCAG (n.*1846_*1848delinsCAG) n.3232_3234delinsCAG c.1041_1043delinsCAG (p.His347=) c.3162_3164delinsCAG (p.His1054=) c.2433_2435delinsCAG (p.His811=) c.1593_1595delinsCAG (p.His531=) | |
| 16 | g.1523562T>A | CA394225234 | IFT140 | c.3409A>T (p.Ser1137Cys) c.991A>T (p.Ser331Cys) c.*1847A>T (n.*1847A>T) n.3233A>T c.1042A>T (p.Ser348Cys) c.3163A>T (p.Ser1055Cys) c.2434A>T (p.Ser812Cys) c.1594A>T (p.Ser532Cys) | |
| 16 | g.1523562T>C | CA394225236 | IFT140 | c.3409A>G (p.Ser1137Gly) c.991A>G (p.Ser331Gly) c.*1847A>G (n.*1847A>G) n.3233A>G c.1042A>G (p.Ser348Gly) c.3163A>G (p.Ser1055Gly) c.2434A>G (p.Ser812Gly) c.1594A>G (p.Ser532Gly) | gnomAD v4 |
| 16 | g.1523562T>G | CA394225235 | IFT140 | c.3409A>C (p.Ser1137Arg) c.991A>C (p.Ser331Arg) c.*1847A>C (n.*1847A>C) n.3233A>C c.1042A>C (p.Ser348Arg) c.3163A>C (p.Ser1055Arg) c.2434A>C (p.Ser812Arg) c.1594A>C (p.Ser532Arg) | |
| 16 | g.1523564_1523565del | CA7813182 | IFT140 | c.3408_3409del (p.His1136GlnfsTer?) c.990_991del (p.His330GlnfsTer?) c.*1846_*1847del (n.*1846_*1847del) n.3232_3233del c.1041_1042del (p.His347GlnfsTer?) c.3162_3163del (p.His1054GlnfsTer?) c.2433_2434del (p.His811GlnfsTer?) c.1593_1594del (p.His531GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523564_1523572del | CA2631007153 | IFT140 | c.3401_3409del (p.Ile1134_His1136del) c.983_991del (p.Ile328_His330del) c.*1839_*1847del (n.*1839_*1847del) n.3225_3233del c.1034_1042del (p.Ile345_His347del) c.3155_3163del (p.Ile1052_His1054del) c.2426_2434del (p.Ile809_His811del) c.1586_1594del (p.Ile529_His531del) | gnomAD v4 |
| 16 | g.1523563G>A | CA493031775 | IFT140 | c.3408C>T (p.His1136=) c.990C>T (p.His330=) c.*1846C>T (n.*1846C>T) n.3232C>T c.1041C>T (p.His347=) c.3162C>T (p.His1054=) c.2433C>T (p.His811=) c.1593C>T (p.His531=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523563G>C | CA7813183 | IFT140 | c.3408C>G (p.His1136Gln) c.990C>G (p.His330Gln) c.*1846C>G (n.*1846C>G) n.3232C>G c.1041C>G (p.His347Gln) c.3162C>G (p.His1054Gln) c.2433C>G (p.His811Gln) c.1593C>G (p.His531Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523563G= | CA2201697781 | IFT140 | c.3408C= (p.His1136=) c.990C= (p.His330=) c.*1846C= (n.*1846C=) n.3232C= c.1041C= (p.His347=) c.3162C= (p.His1054=) c.2433C= (p.His811=) c.1593C= (p.His531=) | |
| 16 | g.1523563G>T | CA394225237 | IFT140 | c.3408C>A (p.His1136Gln) c.990C>A (p.His330Gln) c.*1846C>A (n.*1846C>A) n.3232C>A c.1041C>A (p.His347Gln) c.3162C>A (p.His1054Gln) c.2433C>A (p.His811Gln) c.1593C>A (p.His531Gln) | |
| 16 | g.1523564T>A | CA394225238 | IFT140 | c.3407A>T (p.His1136Leu) c.989A>T (p.His330Leu) c.*1845A>T (n.*1845A>T) n.3231A>T c.1040A>T (p.His347Leu) c.3161A>T (p.His1054Leu) c.2432A>T (p.His811Leu) c.1592A>T (p.His531Leu) | gnomAD v4 |
| 16 | g.1523564T>C | CA394225239 | IFT140 | c.3407A>G (p.His1136Arg) c.989A>G (p.His330Arg) c.*1845A>G (n.*1845A>G) n.3231A>G c.1040A>G (p.His347Arg) c.3161A>G (p.His1054Arg) c.2432A>G (p.His811Arg) c.1592A>G (p.His531Arg) | gnomAD v4 |
| 16 | g.1523564T>G | CA394225240 | IFT140 | c.3407A>C (p.His1136Pro) c.989A>C (p.His330Pro) c.*1845A>C (n.*1845A>C) n.3231A>C c.1040A>C (p.His347Pro) c.3161A>C (p.His1054Pro) c.2432A>C (p.His811Pro) c.1592A>C (p.His531Pro) | |
| 16 | g.1523565G>A | CA394225241 | IFT140 | c.3406C>T (p.His1136Tyr) c.988C>T (p.His330Tyr) c.*1844C>T (n.*1844C>T) n.3230C>T c.1039C>T (p.His347Tyr) c.3160C>T (p.His1054Tyr) c.2431C>T (p.His811Tyr) c.1591C>T (p.His531Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1523565G>C | CA394225242 | IFT140 | c.3406C>G (p.His1136Asp) c.988C>G (p.His330Asp) c.*1844C>G (n.*1844C>G) n.3230C>G c.1039C>G (p.His347Asp) c.3160C>G (p.His1054Asp) c.2431C>G (p.His811Asp) c.1591C>G (p.His531Asp) | |
| 16 | g.1523565G= | CA2201697782 | IFT140 | c.3406C= (p.His1136=) c.988C= (p.His330=) c.*1844C= (n.*1844C=) n.3230C= c.1039C= (p.His347=) c.3160C= (p.His1054=) c.2431C= (p.His811=) c.1591C= (p.His531=) | |
| 16 | g.1523565G>T | CA394225243 | IFT140 | c.3406C>A (p.His1136Asn) c.988C>A (p.His330Asn) c.*1844C>A (n.*1844C>A) n.3230C>A c.1039C>A (p.His347Asn) c.3160C>A (p.His1054Asn) c.2431C>A (p.His811Asn) c.1591C>A (p.His531Asn) | |
| 16 | g.1523566C>A | CA394225244 | IFT140 | c.3405G>T (p.Glu1135Asp) c.987G>T (p.Glu329Asp) c.*1843G>T (n.*1843G>T) n.3229G>T c.1038G>T (p.Glu346Asp) c.3159G>T (p.Glu1053Asp) c.2430G>T (p.Glu810Asp) c.1590G>T (p.Glu530Asp) | |
| 16 | g.1523566C>G | CA394225245 | IFT140 | c.3405G>C (p.Glu1135Asp) c.987G>C (p.Glu329Asp) c.*1843G>C (n.*1843G>C) n.3229G>C c.1038G>C (p.Glu346Asp) c.3159G>C (p.Glu1053Asp) c.2430G>C (p.Glu810Asp) c.1590G>C (p.Glu530Asp) | |
| 16 | g.1523566C>T | CA493031784 | IFT140 | c.3405G>A (p.Glu1135=) c.987G>A (p.Glu329=) c.*1843G>A (n.*1843G>A) n.3229G>A c.1038G>A (p.Glu346=) c.3159G>A (p.Glu1053=) c.2430G>A (p.Glu810=) c.1590G>A (p.Glu530=) | |
| 16 | g.1523567T>A | CA394225247 | IFT140 | c.3404A>T (p.Glu1135Val) c.986A>T (p.Glu329Val) c.*1842A>T (n.*1842A>T) n.3228A>T c.1037A>T (p.Glu346Val) c.3158A>T (p.Glu1053Val) c.2429A>T (p.Glu810Val) c.1589A>T (p.Glu530Val) | |
| 16 | g.1523567T>C | CA394225248 | IFT140 | c.3404A>G (p.Glu1135Gly) c.986A>G (p.Glu329Gly) c.*1842A>G (n.*1842A>G) n.3228A>G c.1037A>G (p.Glu346Gly) c.3158A>G (p.Glu1053Gly) c.2429A>G (p.Glu810Gly) c.1589A>G (p.Glu530Gly) | ClinVar dbSNP |
| 16 | g.1523567T>G | CA394225246 | IFT140 | c.3404A>C (p.Glu1135Ala) c.986A>C (p.Glu329Ala) c.*1842A>C (n.*1842A>C) n.3228A>C c.1037A>C (p.Glu346Ala) c.3158A>C (p.Glu1053Ala) c.2429A>C (p.Glu810Ala) c.1589A>C (p.Glu530Ala) | |
| 16 | g.1523568C>A | CA394225250 | IFT140 | c.3403G>T (p.Glu1135Ter) c.985G>T (p.Glu329Ter) c.*1841G>T (n.*1841G>T) n.3227G>T c.1036G>T (p.Glu346Ter) c.3157G>T (p.Glu1053Ter) c.2428G>T (p.Glu810Ter) c.1588G>T (p.Glu530Ter) | |
| 16 | g.1523568C= | CA2201697783 | IFT140 | c.3403G= (p.Glu1135=) c.985G= (p.Glu329=) c.*1841G= (n.*1841G=) n.3227G= c.1036G= (p.Glu346=) c.3157G= (p.Glu1053=) c.2428G= (p.Glu810=) c.1588G= (p.Glu530=) | |
| 16 | g.1523568C>G | CA394225249 | IFT140 | c.3403G>C (p.Glu1135Gln) c.985G>C (p.Glu329Gln) c.*1841G>C (n.*1841G>C) n.3227G>C c.1036G>C (p.Glu346Gln) c.3157G>C (p.Glu1053Gln) c.2428G>C (p.Glu810Gln) c.1588G>C (p.Glu530Gln) | |
| 16 | g.1523568C>T | CA7813184 | IFT140 | c.3403G>A (p.Glu1135Lys) c.985G>A (p.Glu329Lys) c.*1841G>A (n.*1841G>A) n.3227G>A c.1036G>A (p.Glu346Lys) c.3157G>A (p.Glu1053Lys) c.2428G>A (p.Glu810Lys) c.1588G>A (p.Glu530Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523569G>A | CA7813185 | IFT140 | c.3402C>T (p.Ile1134=) c.984C>T (p.Ile328=) c.*1840C>T (n.*1840C>T) n.3226C>T c.1035C>T (p.Ile345=) c.3156C>T (p.Ile1052=) c.2427C>T (p.Ile809=) c.1587C>T (p.Ile529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523569G>C | CA394225251 | IFT140 | c.3402C>G (p.Ile1134Met) c.984C>G (p.Ile328Met) c.*1840C>G (n.*1840C>G) n.3226C>G c.1035C>G (p.Ile345Met) c.3156C>G (p.Ile1052Met) c.2427C>G (p.Ile809Met) c.1587C>G (p.Ile529Met) | |
| 16 | g.1523569G= | CA2201697784 | IFT140 | c.3402C= (p.Ile1134=) c.984C= (p.Ile328=) c.*1840C= (n.*1840C=) n.3226C= c.1035C= (p.Ile345=) c.3156C= (p.Ile1052=) c.2427C= (p.Ile809=) c.1587C= (p.Ile529=) | |
| 16 | g.1523569G>T | CA493031786 | IFT140 | c.3402C>A (p.Ile1134=) c.984C>A (p.Ile328=) c.*1840C>A (n.*1840C>A) n.3226C>A c.1035C>A (p.Ile345=) c.3156C>A (p.Ile1052=) c.2427C>A (p.Ile809=) c.1587C>A (p.Ile529=) | |
| 16 | g.1523570A>C | CA394225252 | IFT140 | c.3401T>G (p.Ile1134Ser) c.983T>G (p.Ile328Ser) c.*1839T>G (n.*1839T>G) n.3225T>G c.1034T>G (p.Ile345Ser) c.3155T>G (p.Ile1052Ser) c.2426T>G (p.Ile809Ser) c.1586T>G (p.Ile529Ser) | |
| 16 | g.1523570A>G | CA394225253 | IFT140 | c.3401T>C (p.Ile1134Thr) c.983T>C (p.Ile328Thr) c.*1839T>C (n.*1839T>C) n.3225T>C c.1034T>C (p.Ile345Thr) c.3155T>C (p.Ile1052Thr) c.2426T>C (p.Ile809Thr) c.1586T>C (p.Ile529Thr) | |
| 16 | g.1523570A>T | CA394225254 | IFT140 | c.3401T>A (p.Ile1134Asn) c.983T>A (p.Ile328Asn) c.*1839T>A (n.*1839T>A) n.3225T>A c.1034T>A (p.Ile345Asn) c.3155T>A (p.Ile1052Asn) c.2426T>A (p.Ile809Asn) c.1586T>A (p.Ile529Asn) | |
| 16 | g.1523571T>A | CA394225255 | IFT140 | c.3400A>T (p.Ile1134Phe) c.982A>T (p.Ile328Phe) c.*1838A>T (n.*1838A>T) n.3224A>T c.1033A>T (p.Ile345Phe) c.3154A>T (p.Ile1052Phe) c.2425A>T (p.Ile809Phe) c.1585A>T (p.Ile529Phe) | |
| 16 | g.1523571T>C | CA394225256 | IFT140 | c.3400A>G (p.Ile1134Val) c.982A>G (p.Ile328Val) c.*1838A>G (n.*1838A>G) n.3224A>G c.1033A>G (p.Ile345Val) c.3154A>G (p.Ile1052Val) c.2425A>G (p.Ile809Val) c.1585A>G (p.Ile529Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523571T>G | CA394225257 | IFT140 | c.3400A>C (p.Ile1134Leu) c.982A>C (p.Ile328Leu) c.*1838A>C (n.*1838A>C) n.3224A>C c.1033A>C (p.Ile345Leu) c.3154A>C (p.Ile1052Leu) c.2425A>C (p.Ile809Leu) c.1585A>C (p.Ile529Leu) | |
| 16 | g.1523571T= | CA2201697785 | IFT140 | c.3400A= (p.Ile1134=) c.982A= (p.Ile328=) c.*1838A= (n.*1838A=) n.3224A= c.1033A= (p.Ile345=) c.3154A= (p.Ile1052=) c.2425A= (p.Ile809=) c.1585A= (p.Ile529=) | |
| 16 | g.1523571_1523574delinsTGAA | CA2201697786 | IFT140 | c.3397_3400delinsTTCA (p.Phe1133=) c.979_982delinsTTCA (p.Phe327=) c.*1835_*1838delinsTTCA (n.*1835_*1838delinsTTCA) n.3221_3224delinsTTCA c.1030_1033delinsTTCA (p.Phe344=) c.3151_3154delinsTTCA (p.Phe1051=) c.2422_2425delinsTTCA (p.Phe808=) c.1582_1585delinsTTCA (p.Phe528=) | |
| 16 | g.1523572G>A | CA276677510 | IFT140 | c.3399C>T (p.Phe1133=) c.981C>T (p.Phe327=) c.*1837C>T (n.*1837C>T) n.3223C>T c.1032C>T (p.Phe344=) c.3153C>T (p.Phe1051=) c.2424C>T (p.Phe808=) c.1584C>T (p.Phe528=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1523572G>C | CA394225258 | IFT140 | c.3399C>G (p.Phe1133Leu) c.981C>G (p.Phe327Leu) c.*1837C>G (n.*1837C>G) n.3223C>G c.1032C>G (p.Phe344Leu) c.3153C>G (p.Phe1051Leu) c.2424C>G (p.Phe808Leu) c.1584C>G (p.Phe528Leu) | |
| 16 | g.1523572G= | CA2201697787 | IFT140 | c.3399C= (p.Phe1133=) c.981C= (p.Phe327=) c.*1837C= (n.*1837C=) n.3223C= c.1032C= (p.Phe344=) c.3153C= (p.Phe1051=) c.2424C= (p.Phe808=) c.1584C= (p.Phe528=) | |
| 16 | g.1523572G>T | CA394225259 | IFT140 | c.3399C>A (p.Phe1133Leu) c.981C>A (p.Phe327Leu) c.*1837C>A (n.*1837C>A) n.3223C>A c.1032C>A (p.Phe344Leu) c.3153C>A (p.Phe1051Leu) c.2424C>A (p.Phe808Leu) c.1584C>A (p.Phe528Leu) | |
| 16 | g.1523576_1523578del | CA2201697788 | IFT140 | c.3397_3399del (p.Phe1133del) c.979_981del (p.Phe327del) c.*1835_*1837del (n.*1835_*1837del) n.3221_3223del c.1030_1032del (p.Phe344del) c.3151_3153del (p.Phe1051del) c.2422_2424del (p.Phe808del) c.1582_1584del (p.Phe528del) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1523573A>C | CA394225262 | IFT140 | c.3398T>G (p.Phe1133Cys) c.980T>G (p.Phe327Cys) c.*1836T>G (n.*1836T>G) n.3222T>G c.1031T>G (p.Phe344Cys) c.3152T>G (p.Phe1051Cys) c.2423T>G (p.Phe808Cys) c.1583T>G (p.Phe528Cys) | |
| 16 | g.1523573A>G | CA394225261 | IFT140 | c.3398T>C (p.Phe1133Ser) c.980T>C (p.Phe327Ser) c.*1836T>C (n.*1836T>C) n.3222T>C c.1031T>C (p.Phe344Ser) c.3152T>C (p.Phe1051Ser) c.2423T>C (p.Phe808Ser) c.1583T>C (p.Phe528Ser) | |
| 16 | g.1523573A>T | CA394225260 | IFT140 | c.3398T>A (p.Phe1133Tyr) c.980T>A (p.Phe327Tyr) c.*1836T>A (n.*1836T>A) n.3222T>A c.1031T>A (p.Phe344Tyr) c.3152T>A (p.Phe1051Tyr) c.2423T>A (p.Phe808Tyr) c.1583T>A (p.Phe528Tyr) | |
| 16 | g.1523574A= | CA2201697789 | IFT140 | c.3397T= (p.Phe1133=) c.979T= (p.Phe327=) c.*1835T= (n.*1835T=) n.3221T= c.1030T= (p.Phe344=) c.3151T= (p.Phe1051=) c.2422T= (p.Phe808=) c.1582T= (p.Phe528=) | |
| 16 | g.1523574A>C | CA394225263 | IFT140 | c.3397T>G (p.Phe1133Val) c.979T>G (p.Phe327Val) c.*1835T>G (n.*1835T>G) n.3221T>G c.1030T>G (p.Phe344Val) c.3151T>G (p.Phe1051Val) c.2422T>G (p.Phe808Val) c.1582T>G (p.Phe528Val) | |
| 16 | g.1523574A>G | CA7813186 | IFT140 | c.3397T>C (p.Phe1133Leu) c.979T>C (p.Phe327Leu) c.*1835T>C (n.*1835T>C) n.3221T>C c.1030T>C (p.Phe344Leu) c.3151T>C (p.Phe1051Leu) c.2422T>C (p.Phe808Leu) c.1582T>C (p.Phe528Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523574A>T | CA394225264 | IFT140 | c.3397T>A (p.Phe1133Ile) c.979T>A (p.Phe327Ile) c.*1835T>A (n.*1835T>A) n.3221T>A c.1030T>A (p.Phe344Ile) c.3151T>A (p.Phe1051Ile) c.2422T>A (p.Phe808Ile) c.1582T>A (p.Phe528Ile) | |
| 16 | g.1523575G>A | CA493031797 | IFT140 | c.3396C>T (p.Phe1132=) c.978C>T (p.Phe326=) c.*1834C>T (n.*1834C>T) n.3220C>T c.1029C>T (p.Phe343=) c.3150C>T (p.Phe1050=) c.2421C>T (p.Phe807=) c.1581C>T (p.Phe527=) | |
| 16 | g.1523575G>C | CA394225265 | IFT140 | c.3396C>G (p.Phe1132Leu) c.978C>G (p.Phe326Leu) c.*1834C>G (n.*1834C>G) n.3220C>G c.1029C>G (p.Phe343Leu) c.3150C>G (p.Phe1050Leu) c.2421C>G (p.Phe807Leu) c.1581C>G (p.Phe527Leu) | |
| 16 | g.1523575G>T | CA394225266 | IFT140 | c.3396C>A (p.Phe1132Leu) c.978C>A (p.Phe326Leu) c.*1834C>A (n.*1834C>A) n.3220C>A c.1029C>A (p.Phe343Leu) c.3150C>A (p.Phe1050Leu) c.2421C>A (p.Phe807Leu) c.1581C>A (p.Phe527Leu) | |
| 16 | g.1523576A>C | CA394225267 | IFT140 | c.3395T>G (p.Phe1132Cys) c.977T>G (p.Phe326Cys) c.*1833T>G (n.*1833T>G) n.3219T>G c.1028T>G (p.Phe343Cys) c.3149T>G (p.Phe1050Cys) c.2420T>G (p.Phe807Cys) c.1580T>G (p.Phe527Cys) | |
| 16 | g.1523576A>G | CA394225268 | IFT140 | c.3395T>C (p.Phe1132Ser) c.977T>C (p.Phe326Ser) c.*1833T>C (n.*1833T>C) n.3219T>C c.1028T>C (p.Phe343Ser) c.3149T>C (p.Phe1050Ser) c.2420T>C (p.Phe807Ser) c.1580T>C (p.Phe527Ser) | |
| 16 | g.1523576A>T | CA394225269 | IFT140 | c.3395T>A (p.Phe1132Tyr) c.977T>A (p.Phe326Tyr) c.*1833T>A (n.*1833T>A) n.3219T>A c.1028T>A (p.Phe343Tyr) c.3149T>A (p.Phe1050Tyr) c.2420T>A (p.Phe807Tyr) c.1580T>A (p.Phe527Tyr) | |
| 16 | g.1523577A>C | CA394225270 | IFT140 | c.3394T>G (p.Phe1132Val) c.976T>G (p.Phe326Val) c.*1832T>G (n.*1832T>G) n.3218T>G c.1027T>G (p.Phe343Val) c.3148T>G (p.Phe1050Val) c.2419T>G (p.Phe807Val) c.1579T>G (p.Phe527Val) | |
| 16 | g.1523577A>G | CA394225271 | IFT140 | c.3394T>C (p.Phe1132Leu) c.976T>C (p.Phe326Leu) c.*1832T>C (n.*1832T>C) n.3218T>C c.1027T>C (p.Phe343Leu) c.3148T>C (p.Phe1050Leu) c.2419T>C (p.Phe807Leu) c.1579T>C (p.Phe527Leu) | |
| 16 | g.1523577A>T | CA394225272 | IFT140 | c.3394T>A (p.Phe1132Ile) c.976T>A (p.Phe326Ile) c.*1832T>A (n.*1832T>A) n.3218T>A c.1027T>A (p.Phe343Ile) c.3148T>A (p.Phe1050Ile) c.2419T>A (p.Phe807Ile) c.1579T>A (p.Phe527Ile) | |
| 16 | g.1523578G>A | CA493031801 | IFT140 | c.3393C>T (p.Asp1131=) c.975C>T (p.Asp325=) c.*1831C>T (n.*1831C>T) n.3217C>T c.1026C>T (p.Asp342=) c.3147C>T (p.Asp1049=) c.2418C>T (p.Asp806=) c.1578C>T (p.Asp526=) | gnomAD v4 |
| 16 | g.1523578G>C | CA394225273 | IFT140 | c.3393C>G (p.Asp1131Glu) c.975C>G (p.Asp325Glu) c.*1831C>G (n.*1831C>G) n.3217C>G c.1026C>G (p.Asp342Glu) c.3147C>G (p.Asp1049Glu) c.2418C>G (p.Asp806Glu) c.1578C>G (p.Asp526Glu) | dbSNP |
| 16 | g.1523578G= | CA2201697790 | IFT140 | c.3393C= (p.Asp1131=) c.975C= (p.Asp325=) c.*1831C= (n.*1831C=) n.3217C= c.1026C= (p.Asp342=) c.3147C= (p.Asp1049=) c.2418C= (p.Asp806=) c.1578C= (p.Asp526=) | |
| 16 | g.1523578G>T | CA7813187 | IFT140 | c.3393C>A (p.Asp1131Glu) c.975C>A (p.Asp325Glu) c.*1831C>A (n.*1831C>A) n.3217C>A c.1026C>A (p.Asp342Glu) c.3147C>A (p.Asp1049Glu) c.2418C>A (p.Asp806Glu) c.1578C>A (p.Asp526Glu) | dbSNP ExAC gnomAD v2 |
| 16 | g.1523579T>A | CA394225276 | IFT140 | c.3392A>T (p.Asp1131Val) c.974A>T (p.Asp325Val) c.*1830A>T (n.*1830A>T) n.3216A>T c.1025A>T (p.Asp342Val) c.3146A>T (p.Asp1049Val) c.2417A>T (p.Asp806Val) c.1577A>T (p.Asp526Val) | |
| 16 | g.1523579T>C | CA394225275 | IFT140 | c.3392A>G (p.Asp1131Gly) c.974A>G (p.Asp325Gly) c.*1830A>G (n.*1830A>G) n.3216A>G c.1025A>G (p.Asp342Gly) c.3146A>G (p.Asp1049Gly) c.2417A>G (p.Asp806Gly) c.1577A>G (p.Asp526Gly) | |
| 16 | g.1523579T>G | CA394225274 | IFT140 | c.3392A>C (p.Asp1131Ala) c.974A>C (p.Asp325Ala) c.*1830A>C (n.*1830A>C) n.3216A>C c.1025A>C (p.Asp342Ala) c.3146A>C (p.Asp1049Ala) c.2417A>C (p.Asp806Ala) c.1577A>C (p.Asp526Ala) | |
| 16 | g.1523580C>A | CA394225278 | IFT140 | c.3391G>T (p.Asp1131Tyr) c.973G>T (p.Asp325Tyr) c.*1829G>T (n.*1829G>T) n.3215G>T c.1024G>T (p.Asp342Tyr) c.3145G>T (p.Asp1049Tyr) c.2416G>T (p.Asp806Tyr) c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
| 16 | g.1523580C= | CA2201697791 | IFT140 | c.3391G= (p.Asp1131=) c.973G= (p.Asp325=) c.*1829G= (n.*1829G=) n.3215G= c.1024G= (p.Asp342=) c.3145G= (p.Asp1049=) c.2416G= (p.Asp806=) c.1576G= (p.Asp526=) | |
| 16 | g.1523580C>G | CA394225277 | IFT140 | c.3391G>C (p.Asp1131His) c.973G>C (p.Asp325His) c.*1829G>C (n.*1829G>C) n.3215G>C c.1024G>C (p.Asp342His) c.3145G>C (p.Asp1049His) c.2416G>C (p.Asp806His) c.1576G>C (p.Asp526His) | |
| 16 | g.1523580C>T | CA7813188 | IFT140 | c.3391G>A (p.Asp1131Asn) c.973G>A (p.Asp325Asn) c.*1829G>A (n.*1829G>A) n.3215G>A c.1024G>A (p.Asp342Asn) c.3145G>A (p.Asp1049Asn) c.2416G>A (p.Asp806Asn) c.1576G>A (p.Asp526Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523581G>A | CA7813189 | IFT140 | c.3390C>T (p.Ser1130=) c.972C>T (p.Ser324=) c.*1828C>T (n.*1828C>T) n.3214C>T c.1023C>T (p.Ser341=) c.3144C>T (p.Ser1048=) c.2415C>T (p.Ser805=) c.1575C>T (p.Ser525=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523581G>C | CA493031811 | IFT140 | c.3390C>G (p.Ser1130=) c.972C>G (p.Ser324=) c.*1828C>G (n.*1828C>G) n.3214C>G c.1023C>G (p.Ser341=) c.3144C>G (p.Ser1048=) c.2415C>G (p.Ser805=) c.1575C>G (p.Ser525=) | |
| 16 | g.1523581G= | CA2201697792 | IFT140 | c.3390C= (p.Ser1130=) c.972C= (p.Ser324=) c.*1828C= (n.*1828C=) n.3214C= c.1023C= (p.Ser341=) c.3144C= (p.Ser1048=) c.2415C= (p.Ser805=) c.1575C= (p.Ser525=) | |
| 16 | g.1523581G>T | CA493031813 | IFT140 | c.3390C>A (p.Ser1130=) c.972C>A (p.Ser324=) c.*1828C>A (n.*1828C>A) n.3214C>A c.1023C>A (p.Ser341=) c.3144C>A (p.Ser1048=) c.2415C>A (p.Ser805=) c.1575C>A (p.Ser525=) | |
| 16 | g.1523582G>A | CA394225279 | IFT140 | c.3389C>T (p.Ser1130Phe) c.971C>T (p.Ser324Phe) c.*1827C>T (n.*1827C>T) n.3213C>T c.1022C>T (p.Ser341Phe) c.3143C>T (p.Ser1048Phe) c.2414C>T (p.Ser805Phe) c.1574C>T (p.Ser525Phe) | |
| 16 | g.1523582G>C | CA7813190 | IFT140 | c.3389C>G (p.Ser1130Cys) c.971C>G (p.Ser324Cys) c.*1827C>G (n.*1827C>G) n.3213C>G c.1022C>G (p.Ser341Cys) c.3143C>G (p.Ser1048Cys) c.2414C>G (p.Ser805Cys) c.1574C>G (p.Ser525Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1523582G= | CA2201697793 | IFT140 | c.3389C= (p.Ser1130=) c.971C= (p.Ser324=) c.*1827C= (n.*1827C=) n.3213C= c.1022C= (p.Ser341=) c.3143C= (p.Ser1048=) c.2414C= (p.Ser805=) c.1574C= (p.Ser525=) | |
| 16 | g.1523582G>T | CA394225280 | IFT140 | c.3389C>A (p.Ser1130Tyr) c.971C>A (p.Ser324Tyr) c.*1827C>A (n.*1827C>A) n.3213C>A c.1022C>A (p.Ser341Tyr) c.3143C>A (p.Ser1048Tyr) c.2414C>A (p.Ser805Tyr) c.1574C>A (p.Ser525Tyr) | |
| 16 | g.1523583A>C | CA394225283 | IFT140 | c.3388T>G (p.Ser1130Ala) c.970T>G (p.Ser324Ala) c.*1826T>G (n.*1826T>G) n.3212T>G c.1021T>G (p.Ser341Ala) c.3142T>G (p.Ser1048Ala) c.2413T>G (p.Ser805Ala) c.1573T>G (p.Ser525Ala) | |
| 16 | g.1523583A>G | CA394225281 | IFT140 | c.3388T>C (p.Ser1130Pro) c.970T>C (p.Ser324Pro) c.*1826T>C (n.*1826T>C) n.3212T>C c.1021T>C (p.Ser341Pro) c.3142T>C (p.Ser1048Pro) c.2413T>C (p.Ser805Pro) c.1573T>C (p.Ser525Pro) | |
| 16 | g.1523583A>T | CA394225282 | IFT140 | c.3388T>A (p.Ser1130Thr) c.970T>A (p.Ser324Thr) c.*1826T>A (n.*1826T>A) n.3212T>A c.1021T>A (p.Ser341Thr) c.3142T>A (p.Ser1048Thr) c.2413T>A (p.Ser805Thr) c.1573T>A (p.Ser525Thr) | |
| 16 | g.1523584G>A | CA493031819 | IFT140 | c.3387C>T (p.Cys1129=) c.969C>T (p.Cys323=) c.*1825C>T (n.*1825C>T) n.3211C>T c.1020C>T (p.Cys340=) c.3141C>T (p.Cys1047=) c.2412C>T (p.Cys804=) c.1572C>T (p.Cys524=) | |
| 16 | g.1523584G>C | CA7813191 | IFT140 | c.3387C>G (p.Cys1129Trp) c.969C>G (p.Cys323Trp) c.*1825C>G (n.*1825C>G) n.3211C>G c.1020C>G (p.Cys340Trp) c.3141C>G (p.Cys1047Trp) c.2412C>G (p.Cys804Trp) c.1572C>G (p.Cys524Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523584G= | CA2201697794 | IFT140 | c.3387C= (p.Cys1129=) c.969C= (p.Cys323=) c.*1825C= (n.*1825C=) n.3211C= c.1020C= (p.Cys340=) c.3141C= (p.Cys1047=) c.2412C= (p.Cys804=) c.1572C= (p.Cys524=) | |
| 16 | g.1523584G>T | CA394225284 | IFT140 | c.3387C>A (p.Cys1129Ter) c.969C>A (p.Cys323Ter) c.*1825C>A (n.*1825C>A) n.3211C>A c.1020C>A (p.Cys340Ter) c.3141C>A (p.Cys1047Ter) c.2412C>A (p.Cys804Ter) c.1572C>A (p.Cys524Ter) | |
| 16 | g.1523585C>A | CA394225285 | IFT140 | c.3386G>T (p.Cys1129Phe) c.968G>T (p.Cys323Phe) c.*1824G>T (n.*1824G>T) n.3210G>T c.1019G>T (p.Cys340Phe) c.3140G>T (p.Cys1047Phe) c.2411G>T (p.Cys804Phe) c.1571G>T (p.Cys524Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523585C= | CA2201697795 | IFT140 | c.3386G= (p.Cys1129=) c.968G= (p.Cys323=) c.*1824G= (n.*1824G=) n.3210G= c.1019G= (p.Cys340=) c.3140G= (p.Cys1047=) c.2411G= (p.Cys804=) c.1571G= (p.Cys524=) | |
| 16 | g.1523585C>G | CA394225286 | IFT140 | c.3386G>C (p.Cys1129Ser) c.968G>C (p.Cys323Ser) c.*1824G>C (n.*1824G>C) n.3210G>C c.1019G>C (p.Cys340Ser) c.3140G>C (p.Cys1047Ser) c.2411G>C (p.Cys804Ser) c.1571G>C (p.Cys524Ser) | |
| 16 | g.1523585C>T | CA394225287 | IFT140 | c.3386G>A (p.Cys1129Tyr) c.968G>A (p.Cys323Tyr) c.*1824G>A (n.*1824G>A) n.3210G>A c.1019G>A (p.Cys340Tyr) c.3140G>A (p.Cys1047Tyr) c.2411G>A (p.Cys804Tyr) c.1571G>A (p.Cys524Tyr) | dbSNP |
| 16 | g.1523586A= | CA2201697796 | IFT140 | c.3385T= (p.Cys1129=) c.967T= (p.Cys323=) c.*1823T= (n.*1823T=) n.3209T= c.1018T= (p.Cys340=) c.3139T= (p.Cys1047=) c.2410T= (p.Cys804=) c.1570T= (p.Cys524=) | |
| 16 | g.1523586A>C | CA394225288 | IFT140 | c.3385T>G (p.Cys1129Gly) c.967T>G (p.Cys323Gly) c.*1823T>G (n.*1823T>G) n.3209T>G c.1018T>G (p.Cys340Gly) c.3139T>G (p.Cys1047Gly) c.2410T>G (p.Cys804Gly) c.1570T>G (p.Cys524Gly) | |
| 16 | g.1523586A>G | CA10637181 | IFT140 | c.3385T>C (p.Cys1129Arg) c.967T>C (p.Cys323Arg) c.*1823T>C (n.*1823T>C) n.3209T>C c.1018T>C (p.Cys340Arg) c.3139T>C (p.Cys1047Arg) c.2410T>C (p.Cys804Arg) c.1570T>C (p.Cys524Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1523586A>T | CA394225289 | IFT140 | c.3385T>A (p.Cys1129Ser) c.967T>A (p.Cys323Ser) c.*1823T>A (n.*1823T>A) n.3209T>A c.1018T>A (p.Cys340Ser) c.3139T>A (p.Cys1047Ser) c.2410T>A (p.Cys804Ser) c.1570T>A (p.Cys524Ser) | |
| 16 | g.1523586_1523587insCACT | CA620700904 | IFT140 | c.3384_3385insAGTG (p.Cys1129SerfsTer?) c.966_967insAGTG (p.Cys323SerfsTer?) c.*1822_*1823insAGTG (n.*1822_*1823insAGTG) n.3208_3209insAGTG c.1017_1018insAGTG (p.Cys340SerfsTer?) c.3138_3139insAGTG (p.Cys1047SerfsTer?) c.2409_2410insAGTG (p.Cys804SerfsTer?) c.1569_1570insAGTG (p.Cys524SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523587G>A | CA493031823 | IFT140 | c.3384C>T (p.Arg1128=) c.966C>T (p.Arg322=) c.*1822C>T (n.*1822C>T) n.3208C>T c.1017C>T (p.Arg339=) c.3138C>T (p.Arg1046=) c.2409C>T (p.Arg803=) c.1569C>T (p.Arg523=) | dbSNP gnomAD v4 |
| 16 | g.1523587G>C | CA493031824 | IFT140 | c.3384C>G (p.Arg1128=) c.966C>G (p.Arg322=) c.*1822C>G (n.*1822C>G) n.3208C>G c.1017C>G (p.Arg339=) c.3138C>G (p.Arg1046=) c.2409C>G (p.Arg803=) c.1569C>G (p.Arg523=) | |
| 16 | g.1523587G= | CA2201697797 | IFT140 | c.3384C= (p.Arg1128=) c.966C= (p.Arg322=) c.*1822C= (n.*1822C=) n.3208C= c.1017C= (p.Arg339=) c.3138C= (p.Arg1046=) c.2409C= (p.Arg803=) c.1569C= (p.Arg523=) | |
| 16 | g.1523587G>T | CA493031825 | IFT140 | c.3384C>A (p.Arg1128=) c.966C>A (p.Arg322=) c.*1822C>A (n.*1822C>A) n.3208C>A c.1017C>A (p.Arg339=) c.3138C>A (p.Arg1046=) c.2409C>A (p.Arg803=) c.1569C>A (p.Arg523=) | |
| 16 | g.1523587_1523588insACTGTGCTCCGAAGAAGT | CA620700905 | IFT140 | c.3383_3384insACTTCTTCGGAGCACAGT (p.Arg1128_Cys1129insLeuLeuArgSerThrVal) c.965_966insACTTCTTCGGAGCACAGT (p.Arg322_Cys323insLeuLeuArgSerThrVal) c.*1821_*1822insACTTCTTCGGAGCACAGT (n.*1821_*1822insACTTCTTCGGAGCACAGT) n.3207_3208insACTTCTTCGGAGCACAGT c.1016_1017insACTTCTTCGGAGCACAGT (p.Arg339_Cys340insLeuLeuArgSerThrVal) c.3137_3138insACTTCTTCGGAGCACAGT (p.Arg1046_Cys1047insLeuLeuArgSerThrVal) c.2408_2409insACTTCTTCGGAGCACAGT (p.Arg803_Cys804insLeuLeuArgSerThrVal) c.1568_1569insACTTCTTCGGAGCACAGT (p.Arg523_Cys524insLeuLeuArgSerThrVal) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523588C>A | CA276677539 | IFT140 | c.3383G>T (p.Arg1128Leu) c.965G>T (p.Arg322Leu) c.*1821G>T (n.*1821G>T) n.3207G>T c.1016G>T (p.Arg339Leu) c.3137G>T (p.Arg1046Leu) c.2408G>T (p.Arg803Leu) c.1568G>T (p.Arg523Leu) | dbSNP |
| 16 | g.1523588C= | CA2201697798 | IFT140 | c.3383G= (p.Arg1128=) c.965G= (p.Arg322=) c.*1821G= (n.*1821G=) n.3207G= c.1016G= (p.Arg339=) c.3137G= (p.Arg1046=) c.2408G= (p.Arg803=) c.1568G= (p.Arg523=) | |
| 16 | g.1523588C>G | CA394225290 | IFT140 | c.3383G>C (p.Arg1128Pro) c.965G>C (p.Arg322Pro) c.*1821G>C (n.*1821G>C) n.3207G>C c.1016G>C (p.Arg339Pro) c.3137G>C (p.Arg1046Pro) c.2408G>C (p.Arg803Pro) c.1568G>C (p.Arg523Pro) | |
| 16 | g.1523588C>T | CA7813192 | IFT140 | c.3383G>A (p.Arg1128His) c.965G>A (p.Arg322His) c.*1821G>A (n.*1821G>A) n.3207G>A c.1016G>A (p.Arg339His) c.3137G>A (p.Arg1046His) c.2408G>A (p.Arg803His) c.1568G>A (p.Arg523His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523589G>A | CA7813193 | IFT140 | c.3382C>T (p.Arg1128Cys) c.964C>T (p.Arg322Cys) c.*1820C>T (n.*1820C>T) n.3206C>T c.1015C>T (p.Arg339Cys) c.3136C>T (p.Arg1046Cys) c.2407C>T (p.Arg803Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523589G>C | CA394225291 | IFT140 | c.3382C>G (p.Arg1128Gly) c.964C>G (p.Arg322Gly) c.*1820C>G (n.*1820C>G) n.3206C>G c.1015C>G (p.Arg339Gly) c.3136C>G (p.Arg1046Gly) c.2407C>G (p.Arg803Gly) c.1567C>G (p.Arg523Gly) | |
| 16 | g.1523589G= | CA2201697799 | IFT140 | c.3382C= (p.Arg1128=) c.964C= (p.Arg322=) c.*1820C= (n.*1820C=) n.3206C= c.1015C= (p.Arg339=) c.3136C= (p.Arg1046=) c.2407C= (p.Arg803=) c.1567C= (p.Arg523=) | |
| 16 | g.1523589G>T | CA394225292 | IFT140 | c.3382C>A (p.Arg1128Ser) c.964C>A (p.Arg322Ser) c.*1820C>A (n.*1820C>A) n.3206C>A c.1015C>A (p.Arg339Ser) c.3136C>A (p.Arg1046Ser) c.2407C>A (p.Arg803Ser) c.1567C>A (p.Arg523Ser) | |
| 16 | g.1523590G>A | CA493031831 | IFT140 | c.3381C>T (p.Ala1127=) c.963C>T (p.Ala321=) c.*1819C>T (n.*1819C>T) n.3205C>T c.1014C>T (p.Ala338=) c.3135C>T (p.Ala1045=) c.2406C>T (p.Ala802=) c.1566C>T (p.Ala522=) | |
| 16 | g.1523590G>C | CA493031834 | IFT140 | c.3381C>G (p.Ala1127=) c.963C>G (p.Ala321=) c.*1819C>G (n.*1819C>G) n.3205C>G c.1014C>G (p.Ala338=) c.3135C>G (p.Ala1045=) c.2406C>G (p.Ala802=) c.1566C>G (p.Ala522=) | ClinVar |
| 16 | g.1523590G>T | CA493031837 | IFT140 | c.3381C>A (p.Ala1127=) c.963C>A (p.Ala321=) c.*1819C>A (n.*1819C>A) n.3205C>A c.1014C>A (p.Ala338=) c.3135C>A (p.Ala1045=) c.2406C>A (p.Ala802=) c.1566C>A (p.Ala522=) | |
| 16 | g.1523590_1523593delinsGGCC | CA2201697800 | IFT140 | c.3378_3381delinsGGCC (p.Leu1126=) c.960_963delinsGGCC (p.Leu320=) c.*1816_*1819delinsGGCC (n.*1816_*1819delinsGGCC) n.3202_3205delinsGGCC c.1011_1014delinsGGCC (p.Leu337=) c.3132_3135delinsGGCC (p.Leu1044=) c.2403_2406delinsGGCC (p.Leu801=) c.1563_1566delinsGGCC (p.Leu521=) | |
| 16 | g.1523591G>A | CA394225293 | IFT140 | c.3380C>T (p.Ala1127Val) c.962C>T (p.Ala321Val) c.*1818C>T (n.*1818C>T) n.3204C>T c.1013C>T (p.Ala338Val) c.3134C>T (p.Ala1045Val) c.2405C>T (p.Ala802Val) c.1565C>T (p.Ala522Val) | |
| 16 | g.1523591G>C | CA394225294 | IFT140 | c.3380C>G (p.Ala1127Gly) c.962C>G (p.Ala321Gly) c.*1818C>G (n.*1818C>G) n.3204C>G c.1013C>G (p.Ala338Gly) c.3134C>G (p.Ala1045Gly) c.2405C>G (p.Ala802Gly) c.1565C>G (p.Ala522Gly) | |
| 16 | g.1523591G>T | CA394225295 | IFT140 | c.3380C>A (p.Ala1127Asp) c.962C>A (p.Ala321Asp) c.*1818C>A (n.*1818C>A) n.3204C>A c.1013C>A (p.Ala338Asp) c.3134C>A (p.Ala1045Asp) c.2405C>A (p.Ala802Asp) c.1565C>A (p.Ala522Asp) | |
| 16 | g.1523591_1523593del | CA620700908 | IFT140 | c.3378_3380del (p.Ala1127del) c.960_962del (p.Ala321del) c.*1816_*1818del (n.*1816_*1818del) n.3202_3204del c.1011_1013del (p.Ala338del) c.3132_3134del (p.Ala1045del) c.2403_2405del (p.Ala802del) c.1563_1565del (p.Ala522del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1523592C>A | CA394225296 | IFT140 | c.3379G>T (p.Ala1127Ser) c.961G>T (p.Ala321Ser) c.*1817G>T (n.*1817G>T) n.3203G>T c.1012G>T (p.Ala338Ser) c.3133G>T (p.Ala1045Ser) c.2404G>T (p.Ala802Ser) c.1564G>T (p.Ala522Ser) | |
| 16 | g.1523592C>G | CA394225297 | IFT140 | c.3379G>C (p.Ala1127Pro) c.961G>C (p.Ala321Pro) c.*1817G>C (n.*1817G>C) n.3203G>C c.1012G>C (p.Ala338Pro) c.3133G>C (p.Ala1045Pro) c.2404G>C (p.Ala802Pro) c.1564G>C (p.Ala522Pro) | |
| 16 | g.1523592C>T | CA394225298 | IFT140 | c.3379G>A (p.Ala1127Thr) c.961G>A (p.Ala321Thr) c.*1817G>A (n.*1817G>A) n.3203G>A c.1012G>A (p.Ala338Thr) c.3133G>A (p.Ala1045Thr) c.2404G>A (p.Ala802Thr) c.1564G>A (p.Ala522Thr) | ClinVar gnomAD v4 |
| 16 | g.1523593C>A | CA493031843 | IFT140 | c.3378G>T (p.Leu1126=) c.960G>T (p.Leu320=) c.*1816G>T (n.*1816G>T) n.3202G>T c.1011G>T (p.Leu337=) c.3132G>T (p.Leu1044=) c.2403G>T (p.Leu801=) c.1563G>T (p.Leu521=) | |
| 16 | g.1523593C>G | CA493031845 | IFT140 | c.3378G>C (p.Leu1126=) c.960G>C (p.Leu320=) c.*1816G>C (n.*1816G>C) n.3202G>C c.1011G>C (p.Leu337=) c.3132G>C (p.Leu1044=) c.2403G>C (p.Leu801=) c.1563G>C (p.Leu521=) | |
| 16 | g.1523593C>T | CA493031846 | IFT140 | c.3378G>A (p.Leu1126=) c.960G>A (p.Leu320=) c.*1816G>A (n.*1816G>A) n.3202G>A c.1011G>A (p.Leu337=) c.3132G>A (p.Leu1044=) c.2403G>A (p.Leu801=) c.1563G>A (p.Leu521=) | |
| 16 | g.1523594A= | CA2201697801 | IFT140 | c.3377T= (p.Leu1126=) c.959T= (p.Leu320=) c.*1815T= (n.*1815T=) n.3201T= c.1010T= (p.Leu337=) c.3131T= (p.Leu1044=) c.2402T= (p.Leu801=) c.1562T= (p.Leu521=) | |
| 16 | g.1523594A>C | CA394225300 | IFT140 | c.3377T>G (p.Leu1126Arg) c.959T>G (p.Leu320Arg) c.*1815T>G (n.*1815T>G) n.3201T>G c.1010T>G (p.Leu337Arg) c.3131T>G (p.Leu1044Arg) c.2402T>G (p.Leu801Arg) c.1562T>G (p.Leu521Arg) | |
| 16 | g.1523594A>G | CA394225301 | IFT140 | c.3377T>C (p.Leu1126Pro) c.959T>C (p.Leu320Pro) c.*1815T>C (n.*1815T>C) n.3201T>C c.1010T>C (p.Leu337Pro) c.3131T>C (p.Leu1044Pro) c.2402T>C (p.Leu801Pro) c.1562T>C (p.Leu521Pro) | ClinVar dbSNP |
| 16 | g.1523594A>T | CA394225299 | IFT140 | c.3377T>A (p.Leu1126Gln) c.959T>A (p.Leu320Gln) c.*1815T>A (n.*1815T>A) n.3201T>A c.1010T>A (p.Leu337Gln) c.3131T>A (p.Leu1044Gln) c.2402T>A (p.Leu801Gln) c.1562T>A (p.Leu521Gln) |