| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104161914T>C | CA2574662313 | CFAP43 | c.3414+47A>G (n.3414+47A>G) c.1496+47A>G c.3417+47A>G (n.3417+47A>G) c.3531+47A>G (n.3531+47A>G) c.2760+47A>G (n.2760+47A>G) c.1314+47A>G (n.1314+47A>G) c.3528+47A>G (n.3528+47A>G) c.3183+47A>G (n.3183+47A>G) c.1917+47A>G (n.1917+47A>G) n.3300+47A>G | |
| 10 | g.104161915C= | CA1933459778 | CFAP43 | c.3414+46G= (n.3414+46G=) c.1496+46G= c.3417+46G= (n.3417+46G=) c.3531+46G= (n.3531+46G=) c.2760+46G= (n.2760+46G=) c.1314+46G= (n.1314+46G=) c.3528+46G= (n.3528+46G=) c.3183+46G= (n.3183+46G=) c.1917+46G= (n.1917+46G=) n.3300+46G= | |
| 10 | g.104161915C>G | CA5680302 | CFAP43 | c.3414+46G>C (n.3414+46G>C) c.1496+46G>C c.3417+46G>C (n.3417+46G>C) c.3531+46G>C (n.3531+46G>C) c.2760+46G>C (n.2760+46G>C) c.1314+46G>C (n.1314+46G>C) c.3528+46G>C (n.3528+46G>C) c.3183+46G>C (n.3183+46G>C) c.1917+46G>C (n.1917+46G>C) n.3300+46G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161916_104161926delinsTTTCCACCCCA | CA1933459779 | CFAP43 | c.3414+35_3414+45delinsTGGGGTGGAAA (n.3414+35_3414+45delinsTGGGGTGGAAA) c.1496+35_1496+45delinsTGGGGTGGAAA c.3417+35_3417+45delinsTGGGGTGGAAA (n.3417+35_3417+45delinsTGGGGTGGAAA) c.3531+35_3531+45delinsTGGGGTGGAAA (n.3531+35_3531+45delinsTGGGGTGGAAA) c.2760+35_2760+45delinsTGGGGTGGAAA (n.2760+35_2760+45delinsTGGGGTGGAAA) c.1314+35_1314+45delinsTGGGGTGGAAA (n.1314+35_1314+45delinsTGGGGTGGAAA) c.3528+35_3528+45delinsTGGGGTGGAAA (n.3528+35_3528+45delinsTGGGGTGGAAA) c.3183+35_3183+45delinsTGGGGTGGAAA (n.3183+35_3183+45delinsTGGGGTGGAAA) c.1917+35_1917+45delinsTGGGGTGGAAA (n.1917+35_1917+45delinsTGGGGTGGAAA) n.3300+35_3300+45delinsTGGGGTGGAAA | |
| 10 | g.104161924_104161933del | CA5680303 | CFAP43 | c.3414+35_3414+44del (n.3414+35_3414+44del) c.1496+35_1496+44del c.3417+35_3417+44del (n.3417+35_3417+44del) c.3531+35_3531+44del (n.3531+35_3531+44del) c.2760+35_2760+44del (n.2760+35_2760+44del) c.1314+35_1314+44del (n.1314+35_1314+44del) c.3528+35_3528+44del (n.3528+35_3528+44del) c.3183+35_3183+44del (n.3183+35_3183+44del) c.1917+35_1917+44del (n.1917+35_1917+44del) n.3300+35_3300+44del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161918T>G | CA2610809070 | CFAP43 | c.3414+43A>C (n.3414+43A>C) c.1496+43A>C c.3417+43A>C (n.3417+43A>C) c.3531+43A>C (n.3531+43A>C) c.2760+43A>C (n.2760+43A>C) c.1314+43A>C (n.1314+43A>C) c.3528+43A>C (n.3528+43A>C) c.3183+43A>C (n.3183+43A>C) c.1917+43A>C (n.1917+43A>C) n.3300+43A>C | gnomAD v4 |
| 10 | g.104161920C>A | CA595676271 | CFAP43 | c.3414+41G>T (n.3414+41G>T) c.1496+41G>T c.3417+41G>T (n.3417+41G>T) c.3531+41G>T (n.3531+41G>T) c.2760+41G>T (n.2760+41G>T) c.1314+41G>T (n.1314+41G>T) c.3528+41G>T (n.3528+41G>T) c.3183+41G>T (n.3183+41G>T) c.1917+41G>T (n.1917+41G>T) n.3300+41G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161920C= | CA1933459782 | CFAP43 | c.3414+41G= (n.3414+41G=) c.1496+41G= c.3417+41G= (n.3417+41G=) c.3531+41G= (n.3531+41G=) c.2760+41G= (n.2760+41G=) c.1314+41G= (n.1314+41G=) c.3528+41G= (n.3528+41G=) c.3183+41G= (n.3183+41G=) c.1917+41G= (n.1917+41G=) n.3300+41G= | |
| 10 | g.104161920C>T | CA5680304 | CFAP43 | c.3414+41G>A (n.3414+41G>A) c.1496+41G>A c.3417+41G>A (n.3417+41G>A) c.3531+41G>A (n.3531+41G>A) c.2760+41G>A (n.2760+41G>A) c.1314+41G>A (n.1314+41G>A) c.3528+41G>A (n.3528+41G>A) c.3183+41G>A (n.3183+41G>A) c.1917+41G>A (n.1917+41G>A) n.3300+41G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161922C>A | CA5680305 | CFAP43 | c.3414+39G>T (n.3414+39G>T) c.1496+39G>T c.3417+39G>T (n.3417+39G>T) c.3531+39G>T (n.3531+39G>T) c.2760+39G>T (n.2760+39G>T) c.1314+39G>T (n.1314+39G>T) c.3528+39G>T (n.3528+39G>T) c.3183+39G>T (n.3183+39G>T) c.1917+39G>T (n.1917+39G>T) n.3300+39G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161922C= | CA1933459787 | CFAP43 | c.3414+39G= (n.3414+39G=) c.1496+39G= c.3417+39G= (n.3417+39G=) c.3531+39G= (n.3531+39G=) c.2760+39G= (n.2760+39G=) c.1314+39G= (n.1314+39G=) c.3528+39G= (n.3528+39G=) c.3183+39G= (n.3183+39G=) c.1917+39G= (n.1917+39G=) n.3300+39G= | |
| 10 | g.104161923C= | CA1933459789 | CFAP43 | c.3414+38G= (n.3414+38G=) c.1496+38G= c.3417+38G= (n.3417+38G=) c.3531+38G= (n.3531+38G=) c.2760+38G= (n.2760+38G=) c.1314+38G= (n.1314+38G=) c.3528+38G= (n.3528+38G=) c.3183+38G= (n.3183+38G=) c.1917+38G= (n.1917+38G=) n.3300+38G= | |
| 10 | g.104161923C>T | CA5680306 | CFAP43 | c.3414+38G>A (n.3414+38G>A) c.1496+38G>A c.3417+38G>A (n.3417+38G>A) c.3531+38G>A (n.3531+38G>A) c.2760+38G>A (n.2760+38G>A) c.1314+38G>A (n.1314+38G>A) c.3528+38G>A (n.3528+38G>A) c.3183+38G>A (n.3183+38G>A) c.1917+38G>A (n.1917+38G>A) n.3300+38G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104161924C>A | CA2610809079 | CFAP43 | c.3414+37G>T (n.3414+37G>T) c.1496+37G>T c.3417+37G>T (n.3417+37G>T) c.3531+37G>T (n.3531+37G>T) c.2760+37G>T (n.2760+37G>T) c.1314+37G>T (n.1314+37G>T) c.3528+37G>T (n.3528+37G>T) c.3183+37G>T (n.3183+37G>T) c.1917+37G>T (n.1917+37G>T) n.3300+37G>T | gnomAD v4 |
| 10 | g.104161924C= | CA1933459792 | CFAP43 | c.3414+37G= (n.3414+37G=) c.1496+37G= c.3417+37G= (n.3417+37G=) c.3531+37G= (n.3531+37G=) c.2760+37G= (n.2760+37G=) c.1314+37G= (n.1314+37G=) c.3528+37G= (n.3528+37G=) c.3183+37G= (n.3183+37G=) c.1917+37G= (n.1917+37G=) n.3300+37G= | |
| 10 | g.104161924C>T | CA932054194 | CFAP43 | c.3414+37G>A (n.3414+37G>A) c.1496+37G>A c.3417+37G>A (n.3417+37G>A) c.3531+37G>A (n.3531+37G>A) c.2760+37G>A (n.2760+37G>A) c.1314+37G>A (n.1314+37G>A) c.3528+37G>A (n.3528+37G>A) c.3183+37G>A (n.3183+37G>A) c.1917+37G>A (n.1917+37G>A) n.3300+37G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104161925C>A | CA5680307 | CFAP43 | c.3414+36G>T (n.3414+36G>T) c.1496+36G>T c.3417+36G>T (n.3417+36G>T) c.3531+36G>T (n.3531+36G>T) c.2760+36G>T (n.2760+36G>T) c.1314+36G>T (n.1314+36G>T) c.3528+36G>T (n.3528+36G>T) c.3183+36G>T (n.3183+36G>T) c.1917+36G>T (n.1917+36G>T) n.3300+36G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161925C= | CA1933459794 | CFAP43 | c.3414+36G= (n.3414+36G=) c.1496+36G= c.3417+36G= (n.3417+36G=) c.3531+36G= (n.3531+36G=) c.2760+36G= (n.2760+36G=) c.1314+36G= (n.1314+36G=) c.3528+36G= (n.3528+36G=) c.3183+36G= (n.3183+36G=) c.1917+36G= (n.1917+36G=) n.3300+36G= | |
| 10 | g.104161926A= | CA1933459796 | CFAP43 | c.3414+35T= (n.3414+35T=) c.1496+35T= c.3417+35T= (n.3417+35T=) c.3531+35T= (n.3531+35T=) c.2760+35T= (n.2760+35T=) c.1314+35T= (n.1314+35T=) c.3528+35T= (n.3528+35T=) c.3183+35T= (n.3183+35T=) c.1917+35T= (n.1917+35T=) n.3300+35T= | |
| 10 | g.104161926A>C | CA212453351 | CFAP43 | c.3414+35T>G (n.3414+35T>G) c.1496+35T>G c.3417+35T>G (n.3417+35T>G) c.3531+35T>G (n.3531+35T>G) c.2760+35T>G (n.2760+35T>G) c.1314+35T>G (n.1314+35T>G) c.3528+35T>G (n.3528+35T>G) c.3183+35T>G (n.3183+35T>G) c.1917+35T>G (n.1917+35T>G) n.3300+35T>G | dbSNP |
| 10 | g.104161926A>G | CA2610809083 | CFAP43 | c.3414+35T>C (n.3414+35T>C) c.1496+35T>C c.3417+35T>C (n.3417+35T>C) c.3531+35T>C (n.3531+35T>C) c.2760+35T>C (n.2760+35T>C) c.1314+35T>C (n.1314+35T>C) c.3528+35T>C (n.3528+35T>C) c.3183+35T>C (n.3183+35T>C) c.1917+35T>C (n.1917+35T>C) n.3300+35T>C | gnomAD v4 |
| 10 | g.104161930C>T | CA2610809084 | CFAP43 | c.3414+31G>A (n.3414+31G>A) c.1496+31G>A c.3417+31G>A (n.3417+31G>A) c.3531+31G>A (n.3531+31G>A) c.2760+31G>A (n.2760+31G>A) c.1314+31G>A (n.1314+31G>A) c.3528+31G>A (n.3528+31G>A) c.3183+31G>A (n.3183+31G>A) c.1917+31G>A (n.1917+31G>A) n.3300+31G>A | gnomAD v4 |
| 10 | g.104161932C= | CA1933459801 | CFAP43 | c.3414+29G= (n.3414+29G=) c.1496+29G= c.3417+29G= (n.3417+29G=) c.3531+29G= (n.3531+29G=) c.2760+29G= (n.2760+29G=) c.1314+29G= (n.1314+29G=) c.3528+29G= (n.3528+29G=) c.3183+29G= (n.3183+29G=) c.1917+29G= (n.1917+29G=) n.3300+29G= | |
| 10 | g.104161932C>T | CA5680308 | CFAP43 | c.3414+29G>A (n.3414+29G>A) c.1496+29G>A c.3417+29G>A (n.3417+29G>A) c.3531+29G>A (n.3531+29G>A) c.2760+29G>A (n.2760+29G>A) c.1314+29G>A (n.1314+29G>A) c.3528+29G>A (n.3528+29G>A) c.3183+29G>A (n.3183+29G>A) c.1917+29G>A (n.1917+29G>A) n.3300+29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161933del | CA2610809085 | CFAP43 | c.3414+29del (n.3414+29del) c.1496+29del c.3417+29del (n.3417+29del) c.3531+29del (n.3531+29del) c.2760+29del (n.2760+29del) c.1314+29del (n.1314+29del) c.3528+29del (n.3528+29del) c.3183+29del (n.3183+29del) c.1917+29del (n.1917+29del) n.3300+29del | gnomAD v4 |
| 10 | g.104161933C>A | CA2610809090 | CFAP43 | c.3414+28G>T (n.3414+28G>T) c.1496+28G>T c.3417+28G>T (n.3417+28G>T) c.3531+28G>T (n.3531+28G>T) c.2760+28G>T (n.2760+28G>T) c.1314+28G>T (n.1314+28G>T) c.3528+28G>T (n.3528+28G>T) c.3183+28G>T (n.3183+28G>T) c.1917+28G>T (n.1917+28G>T) n.3300+28G>T | gnomAD v4 |
| 10 | g.104161933C>T | CA2574662314 | CFAP43 | c.3414+28G>A (n.3414+28G>A) c.1496+28G>A c.3417+28G>A (n.3417+28G>A) c.3531+28G>A (n.3531+28G>A) c.2760+28G>A (n.2760+28G>A) c.1314+28G>A (n.1314+28G>A) c.3528+28G>A (n.3528+28G>A) c.3183+28G>A (n.3183+28G>A) c.1917+28G>A (n.1917+28G>A) n.3300+28G>A | gnomAD v4 |
| 10 | g.104161934T>G | CA2610809091 | CFAP43 | c.3414+27A>C (n.3414+27A>C) c.1496+27A>C c.3417+27A>C (n.3417+27A>C) c.3531+27A>C (n.3531+27A>C) c.2760+27A>C (n.2760+27A>C) c.1314+27A>C (n.1314+27A>C) c.3528+27A>C (n.3528+27A>C) c.3183+27A>C (n.3183+27A>C) c.1917+27A>C (n.1917+27A>C) n.3300+27A>C | gnomAD v4 |
| 10 | g.104161936C>A | CA2610809092 | CFAP43 | c.3414+25G>T (n.3414+25G>T) c.1496+25G>T c.3417+25G>T (n.3417+25G>T) c.3531+25G>T (n.3531+25G>T) c.2760+25G>T (n.2760+25G>T) c.1314+25G>T (n.1314+25G>T) c.3528+25G>T (n.3528+25G>T) c.3183+25G>T (n.3183+25G>T) c.1917+25G>T (n.1917+25G>T) n.3300+25G>T | gnomAD v4 |
| 10 | g.104161937T>C | CA2566319247 | CFAP43 | c.3414+24A>G (n.3414+24A>G) c.1496+24A>G c.3417+24A>G (n.3417+24A>G) c.3531+24A>G (n.3531+24A>G) c.2760+24A>G (n.2760+24A>G) c.1314+24A>G (n.1314+24A>G) c.3528+24A>G (n.3528+24A>G) c.3183+24A>G (n.3183+24A>G) c.1917+24A>G (n.1917+24A>G) n.3300+24A>G | |
| 10 | g.104161939T>A | CA2789323711 | CFAP43 | c.3414+22A>T (n.3414+22A>T) c.1496+22A>T c.3417+22A>T (n.3417+22A>T) c.3531+22A>T (n.3531+22A>T) c.2760+22A>T (n.2760+22A>T) c.1314+22A>T (n.1314+22A>T) c.3528+22A>T (n.3528+22A>T) c.3183+22A>T (n.3183+22A>T) c.1917+22A>T (n.1917+22A>T) n.3300+22A>T | |
| 10 | g.104161939T>C | CA595676276 | CFAP43 | c.3414+22A>G (n.3414+22A>G) c.1496+22A>G c.3417+22A>G (n.3417+22A>G) c.3531+22A>G (n.3531+22A>G) c.2760+22A>G (n.2760+22A>G) c.1314+22A>G (n.1314+22A>G) c.3528+22A>G (n.3528+22A>G) c.3183+22A>G (n.3183+22A>G) c.1917+22A>G (n.1917+22A>G) n.3300+22A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161939T= | CA1933459803 | CFAP43 | c.3414+22A= (n.3414+22A=) c.1496+22A= c.3417+22A= (n.3417+22A=) c.3531+22A= (n.3531+22A=) c.2760+22A= (n.2760+22A=) c.1314+22A= (n.1314+22A=) c.3528+22A= (n.3528+22A=) c.3183+22A= (n.3183+22A=) c.1917+22A= (n.1917+22A=) n.3300+22A= | |
| 10 | g.104161940A>G | CA2574662315 | CFAP43 | c.3414+21T>C (n.3414+21T>C) c.1496+21T>C c.3417+21T>C (n.3417+21T>C) c.3531+21T>C (n.3531+21T>C) c.2760+21T>C (n.2760+21T>C) c.1314+21T>C (n.1314+21T>C) c.3528+21T>C (n.3528+21T>C) c.3183+21T>C (n.3183+21T>C) c.1917+21T>C (n.1917+21T>C) n.3300+21T>C | gnomAD v4 |
| 10 | g.104161941A= | CA1933459805 | CFAP43 | c.3414+20T= (n.3414+20T=) c.1496+20T= c.3417+20T= (n.3417+20T=) c.3531+20T= (n.3531+20T=) c.2760+20T= (n.2760+20T=) c.1314+20T= (n.1314+20T=) c.3528+20T= (n.3528+20T=) c.3183+20T= (n.3183+20T=) c.1917+20T= (n.1917+20T=) n.3300+20T= | |
| 10 | g.104161941A>G | CA2574662316 | CFAP43 | c.3414+20T>C (n.3414+20T>C) c.1496+20T>C c.3417+20T>C (n.3417+20T>C) c.3531+20T>C (n.3531+20T>C) c.2760+20T>C (n.2760+20T>C) c.1314+20T>C (n.1314+20T>C) c.3528+20T>C (n.3528+20T>C) c.3183+20T>C (n.3183+20T>C) c.1917+20T>C (n.1917+20T>C) n.3300+20T>C | gnomAD v4 |
| 10 | g.104161941A>T | CA659207222 | CFAP43 | c.3414+20T>A (n.3414+20T>A) c.1496+20T>A c.3417+20T>A (n.3417+20T>A) c.3531+20T>A (n.3531+20T>A) c.2760+20T>A (n.2760+20T>A) c.1314+20T>A (n.1314+20T>A) c.3528+20T>A (n.3528+20T>A) c.3183+20T>A (n.3183+20T>A) c.1917+20T>A (n.1917+20T>A) n.3300+20T>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104161942G>A | CA659207224 | CFAP43 | c.3414+19C>T (n.3414+19C>T) c.1496+19C>T c.3417+19C>T (n.3417+19C>T) c.3531+19C>T (n.3531+19C>T) c.2760+19C>T (n.2760+19C>T) c.1314+19C>T (n.1314+19C>T) c.3528+19C>T (n.3528+19C>T) c.3183+19C>T (n.3183+19C>T) c.1917+19C>T (n.1917+19C>T) n.3300+19C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.104161942G= | CA1933459807 | CFAP43 | c.3414+19C= (n.3414+19C=) c.1496+19C= c.3417+19C= (n.3417+19C=) c.3531+19C= (n.3531+19C=) c.2760+19C= (n.2760+19C=) c.1314+19C= (n.1314+19C=) c.3528+19C= (n.3528+19C=) c.3183+19C= (n.3183+19C=) c.1917+19C= (n.1917+19C=) n.3300+19C= | |
| 10 | g.104161942G>T | CA2610809096 | CFAP43 | c.3414+19C>A (n.3414+19C>A) c.1496+19C>A c.3417+19C>A (n.3417+19C>A) c.3531+19C>A (n.3531+19C>A) c.2760+19C>A (n.2760+19C>A) c.1314+19C>A (n.1314+19C>A) c.3528+19C>A (n.3528+19C>A) c.3183+19C>A (n.3183+19C>A) c.1917+19C>A (n.1917+19C>A) n.3300+19C>A | gnomAD v4 |
| 10 | g.104161943G>A | CA1933459811 | CFAP43 | c.3414+18C>T (n.3414+18C>T) c.1496+18C>T c.3417+18C>T (n.3417+18C>T) c.3531+18C>T (n.3531+18C>T) c.2760+18C>T (n.2760+18C>T) c.1314+18C>T (n.1314+18C>T) c.3528+18C>T (n.3528+18C>T) c.3183+18C>T (n.3183+18C>T) c.1917+18C>T (n.1917+18C>T) n.3300+18C>T | dbSNP |
| 10 | g.104161943G= | CA1933459810 | CFAP43 | c.3414+18C= (n.3414+18C=) c.1496+18C= c.3417+18C= (n.3417+18C=) c.3531+18C= (n.3531+18C=) c.2760+18C= (n.2760+18C=) c.1314+18C= (n.1314+18C=) c.3528+18C= (n.3528+18C=) c.3183+18C= (n.3183+18C=) c.1917+18C= (n.1917+18C=) n.3300+18C= | |
| 10 | g.104161944A>G | CA2610809099 | CFAP43 | c.3414+17T>C (n.3414+17T>C) c.1496+17T>C c.3417+17T>C (n.3417+17T>C) c.3531+17T>C (n.3531+17T>C) c.2760+17T>C (n.2760+17T>C) c.1314+17T>C (n.1314+17T>C) c.3528+17T>C (n.3528+17T>C) c.3183+17T>C (n.3183+17T>C) c.1917+17T>C (n.1917+17T>C) n.3300+17T>C | gnomAD v4 |
| 10 | g.104161945T>A | CA1933459813 | CFAP43 | c.3414+16A>T (n.3414+16A>T) c.1496+16A>T c.3417+16A>T (n.3417+16A>T) c.3531+16A>T (n.3531+16A>T) c.2760+16A>T (n.2760+16A>T) c.1314+16A>T (n.1314+16A>T) c.3528+16A>T (n.3528+16A>T) c.3183+16A>T (n.3183+16A>T) c.1917+16A>T (n.1917+16A>T) n.3300+16A>T | dbSNP |
| 10 | g.104161945T= | CA1933459812 | CFAP43 | c.3414+16A= (n.3414+16A=) c.1496+16A= c.3417+16A= (n.3417+16A=) c.3531+16A= (n.3531+16A=) c.2760+16A= (n.2760+16A=) c.1314+16A= (n.1314+16A=) c.3528+16A= (n.3528+16A=) c.3183+16A= (n.3183+16A=) c.1917+16A= (n.1917+16A=) n.3300+16A= | |
| 10 | g.104161946G>T | CA2610809102 | CFAP43 | c.3414+15C>A (n.3414+15C>A) c.1496+15C>A c.3417+15C>A (n.3417+15C>A) c.3531+15C>A (n.3531+15C>A) c.2760+15C>A (n.2760+15C>A) c.1314+15C>A (n.1314+15C>A) c.3528+15C>A (n.3528+15C>A) c.3183+15C>A (n.3183+15C>A) c.1917+15C>A (n.1917+15C>A) n.3300+15C>A | gnomAD v4 |
| 10 | g.104161947A>G | CA2560322468 | CFAP43 | c.3414+14T>C (n.3414+14T>C) c.1496+14T>C c.3417+14T>C (n.3417+14T>C) c.3531+14T>C (n.3531+14T>C) c.2760+14T>C (n.2760+14T>C) c.1314+14T>C (n.1314+14T>C) c.3528+14T>C (n.3528+14T>C) c.3183+14T>C (n.3183+14T>C) c.1917+14T>C (n.1917+14T>C) n.3300+14T>C | |
| 10 | g.104161947_104161958delinsAACAGAAATATC | CA1933459815 | CFAP43 | c.3414+3_3414+14delinsGATATTTCTGTT (n.3414+3_3414+14delinsGATATTTCTGTT) c.1496+3_1496+14delinsGATATTTCTGTT c.3417+3_3417+14delinsGATATTTCTGTT (n.3417+3_3417+14delinsGATATTTCTGTT) c.3531+3_3531+14delinsGATATTTCTGTT (n.3531+3_3531+14delinsGATATTTCTGTT) c.2760+3_2760+14delinsGATATTTCTGTT (n.2760+3_2760+14delinsGATATTTCTGTT) c.1314+3_1314+14delinsGATATTTCTGTT (n.1314+3_1314+14delinsGATATTTCTGTT) c.3528+3_3528+14delinsGATATTTCTGTT (n.3528+3_3528+14delinsGATATTTCTGTT) c.3183+3_3183+14delinsGATATTTCTGTT (n.3183+3_3183+14delinsGATATTTCTGTT) c.1917+3_1917+14delinsGATATTTCTGTT (n.1917+3_1917+14delinsGATATTTCTGTT) n.3300+3_3300+14delinsGATATTTCTGTT | |
| 10 | g.104161948A>C | CA2499714584 | CFAP43 | c.3414+13T>G (n.3414+13T>G) c.1496+13T>G c.3417+13T>G (n.3417+13T>G) c.3531+13T>G (n.3531+13T>G) c.2760+13T>G (n.2760+13T>G) c.1314+13T>G (n.1314+13T>G) c.3528+13T>G (n.3528+13T>G) c.3183+13T>G (n.3183+13T>G) c.1917+13T>G (n.1917+13T>G) n.3300+13T>G | |
| 10 | g.104161950_104161960del | CA1933459817 | CFAP43 | c.3414+3_3414+13del (n.3414+3_3414+13del) c.1496+3_1496+13del c.3417+3_3417+13del (n.3417+3_3417+13del) c.3531+3_3531+13del (n.3531+3_3531+13del) c.2760+3_2760+13del (n.2760+3_2760+13del) c.1314+3_1314+13del (n.1314+3_1314+13del) c.3528+3_3528+13del (n.3528+3_3528+13del) c.3183+3_3183+13del (n.3183+3_3183+13del) c.1917+3_1917+13del (n.1917+3_1917+13del) n.3300+3_3300+13del | dbSNP |
| 10 | g.104161949C>A | CA2610809106 | CFAP43 | c.3414+12G>T (n.3414+12G>T) c.1496+12G>T c.3417+12G>T (n.3417+12G>T) c.3531+12G>T (n.3531+12G>T) c.2760+12G>T (n.2760+12G>T) c.1314+12G>T (n.1314+12G>T) c.3528+12G>T (n.3528+12G>T) c.3183+12G>T (n.3183+12G>T) c.1917+12G>T (n.1917+12G>T) n.3300+12G>T | gnomAD v4 |
| 10 | g.104161949C= | CA1933459823 | CFAP43 | c.3414+12G= (n.3414+12G=) c.1496+12G= c.3417+12G= (n.3417+12G=) c.3531+12G= (n.3531+12G=) c.2760+12G= (n.2760+12G=) c.1314+12G= (n.1314+12G=) c.3528+12G= (n.3528+12G=) c.3183+12G= (n.3183+12G=) c.1917+12G= (n.1917+12G=) n.3300+12G= | |
| 10 | g.104161949C>G | CA5680309 | CFAP43 | c.3414+12G>C (n.3414+12G>C) c.1496+12G>C c.3417+12G>C (n.3417+12G>C) c.3531+12G>C (n.3531+12G>C) c.2760+12G>C (n.2760+12G>C) c.1314+12G>C (n.1314+12G>C) c.3528+12G>C (n.3528+12G>C) c.3183+12G>C (n.3183+12G>C) c.1917+12G>C (n.1917+12G>C) n.3300+12G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161949C>T | CA2574662317 | CFAP43 | c.3414+12G>A (n.3414+12G>A) c.1496+12G>A c.3417+12G>A (n.3417+12G>A) c.3531+12G>A (n.3531+12G>A) c.2760+12G>A (n.2760+12G>A) c.1314+12G>A (n.1314+12G>A) c.3528+12G>A (n.3528+12G>A) c.3183+12G>A (n.3183+12G>A) c.1917+12G>A (n.1917+12G>A) n.3300+12G>A | gnomAD v4 |
| 10 | g.104161951G>A | CA595676277 | CFAP43 | c.3414+10C>T (n.3414+10C>T) c.1496+10C>T c.3417+10C>T (n.3417+10C>T) c.3531+10C>T (n.3531+10C>T) c.2760+10C>T (n.2760+10C>T) c.1314+10C>T (n.1314+10C>T) c.3528+10C>T (n.3528+10C>T) c.3183+10C>T (n.3183+10C>T) c.1917+10C>T (n.1917+10C>T) n.3300+10C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104161951G>C | CA2789323712 | CFAP43 | c.3414+10C>G (n.3414+10C>G) c.1496+10C>G c.3417+10C>G (n.3417+10C>G) c.3531+10C>G (n.3531+10C>G) c.2760+10C>G (n.2760+10C>G) c.1314+10C>G (n.1314+10C>G) c.3528+10C>G (n.3528+10C>G) c.3183+10C>G (n.3183+10C>G) c.1917+10C>G (n.1917+10C>G) n.3300+10C>G | |
| 10 | g.104161951G= | CA1933459826 | CFAP43 | c.3414+10C= (n.3414+10C=) c.1496+10C= c.3417+10C= (n.3417+10C=) c.3531+10C= (n.3531+10C=) c.2760+10C= (n.2760+10C=) c.1314+10C= (n.1314+10C=) c.3528+10C= (n.3528+10C=) c.3183+10C= (n.3183+10C=) c.1917+10C= (n.1917+10C=) n.3300+10C= | |
| 10 | g.104161951G>T | CA5680310 | CFAP43 | c.3414+10C>A (n.3414+10C>A) c.1496+10C>A c.3417+10C>A (n.3417+10C>A) c.3531+10C>A (n.3531+10C>A) c.2760+10C>A (n.2760+10C>A) c.1314+10C>A (n.1314+10C>A) c.3528+10C>A (n.3528+10C>A) c.3183+10C>A (n.3183+10C>A) c.1917+10C>A (n.1917+10C>A) n.3300+10C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161952A>G | CA2541276322 | CFAP43 | c.3414+9T>C (n.3414+9T>C) c.1496+9T>C c.3417+9T>C (n.3417+9T>C) c.3531+9T>C (n.3531+9T>C) c.2760+9T>C (n.2760+9T>C) c.1314+9T>C (n.1314+9T>C) c.3528+9T>C (n.3528+9T>C) c.3183+9T>C (n.3183+9T>C) c.1917+9T>C (n.1917+9T>C) n.3300+9T>C | |
| 10 | g.104161953A>T | CA2574662318 | CFAP43 | c.3414+8T>A (n.3414+8T>A) c.1496+8T>A c.3417+8T>A (n.3417+8T>A) c.3531+8T>A (n.3531+8T>A) c.2760+8T>A (n.2760+8T>A) c.1314+8T>A (n.1314+8T>A) c.3528+8T>A (n.3528+8T>A) c.3183+8T>A (n.3183+8T>A) c.1917+8T>A (n.1917+8T>A) n.3300+8T>A | gnomAD v4 |
| 10 | g.104161954A>G | CA2610809113 | CFAP43 | c.3414+7T>C (n.3414+7T>C) c.1496+7T>C c.3417+7T>C (n.3417+7T>C) c.3531+7T>C (n.3531+7T>C) c.2760+7T>C (n.2760+7T>C) c.1314+7T>C (n.1314+7T>C) c.3528+7T>C (n.3528+7T>C) c.3183+7T>C (n.3183+7T>C) c.1917+7T>C (n.1917+7T>C) n.3300+7T>C | gnomAD v4 |
| 10 | g.104161955T>A | CA2610809115 | CFAP43 | c.3414+6A>T (n.3414+6A>T) c.1496+6A>T c.3417+6A>T (n.3417+6A>T) c.3531+6A>T (n.3531+6A>T) c.2760+6A>T (n.2760+6A>T) c.1314+6A>T (n.1314+6A>T) c.3528+6A>T (n.3528+6A>T) c.3183+6A>T (n.3183+6A>T) c.1917+6A>T (n.1917+6A>T) n.3300+6A>T | gnomAD v4 |
| 10 | g.104161956A>C | CA2512920081 | CFAP43 | c.3414+5T>G (n.3414+5T>G) c.1496+5T>G c.3417+5T>G (n.3417+5T>G) c.3531+5T>G (n.3531+5T>G) c.2760+5T>G (n.2760+5T>G) c.1314+5T>G (n.1314+5T>G) c.3528+5T>G (n.3528+5T>G) c.3183+5T>G (n.3183+5T>G) c.1917+5T>G (n.1917+5T>G) n.3300+5T>G | |
| 10 | g.104161959A>C | CA378091658 | CFAP43 | c.3414+2T>G (n.3414+2T>G) c.1496+2T>G c.3417+2T>G (n.3417+2T>G) c.3531+2T>G (n.3531+2T>G) c.2760+2T>G (n.2760+2T>G) c.1314+2T>G (n.1314+2T>G) c.3528+2T>G (n.3528+2T>G) c.3183+2T>G (n.3183+2T>G) c.1917+2T>G (n.1917+2T>G) n.3300+2T>G | |
| 10 | g.104161959A>G | CA378091659 | CFAP43 | c.3414+2T>C (n.3414+2T>C) c.1496+2T>C c.3417+2T>C (n.3417+2T>C) c.3531+2T>C (n.3531+2T>C) c.2760+2T>C (n.2760+2T>C) c.1314+2T>C (n.1314+2T>C) c.3528+2T>C (n.3528+2T>C) c.3183+2T>C (n.3183+2T>C) c.1917+2T>C (n.1917+2T>C) n.3300+2T>C | gnomAD v4 |
| 10 | g.104161959A>T | CA378091661 | CFAP43 | c.3414+2T>A (n.3414+2T>A) c.1496+2T>A c.3417+2T>A (n.3417+2T>A) c.3531+2T>A (n.3531+2T>A) c.2760+2T>A (n.2760+2T>A) c.1314+2T>A (n.1314+2T>A) c.3528+2T>A (n.3528+2T>A) c.3183+2T>A (n.3183+2T>A) c.1917+2T>A (n.1917+2T>A) n.3300+2T>A | |
| 10 | g.104161960C>A | CA378091663 | CFAP43 | c.3414+1G>T (n.3414+1G>T) c.1496+1G>T c.3417+1G>T (n.3417+1G>T) c.3531+1G>T (n.3531+1G>T) c.2760+1G>T (n.2760+1G>T) c.1314+1G>T (n.1314+1G>T) c.3528+1G>T (n.3528+1G>T) c.3183+1G>T (n.3183+1G>T) c.1917+1G>T (n.1917+1G>T) n.3300+1G>T | |
| 10 | g.104161960C= | CA1933459829 | CFAP43 | c.3414+1G= (n.3414+1G=) c.1496+1G= c.3417+1G= (n.3417+1G=) c.3531+1G= (n.3531+1G=) c.2760+1G= (n.2760+1G=) c.1314+1G= (n.1314+1G=) c.3528+1G= (n.3528+1G=) c.3183+1G= (n.3183+1G=) c.1917+1G= (n.1917+1G=) n.3300+1G= | |
| 10 | g.104161960C>G | CA378091665 | CFAP43 | c.3414+1G>C (n.3414+1G>C) c.1496+1G>C c.3417+1G>C (n.3417+1G>C) c.3531+1G>C (n.3531+1G>C) c.2760+1G>C (n.2760+1G>C) c.1314+1G>C (n.1314+1G>C) c.3528+1G>C (n.3528+1G>C) c.3183+1G>C (n.3183+1G>C) c.1917+1G>C (n.1917+1G>C) n.3300+1G>C | dbSNP |
| 10 | g.104161960C>T | CA378091667 | CFAP43 | c.3414+1G>A (n.3414+1G>A) c.1496+1G>A c.3417+1G>A (n.3417+1G>A) c.3531+1G>A (n.3531+1G>A) c.2760+1G>A (n.2760+1G>A) c.1314+1G>A (n.1314+1G>A) c.3528+1G>A (n.3528+1G>A) c.3183+1G>A (n.3183+1G>A) c.1917+1G>A (n.1917+1G>A) n.3300+1G>A | dbSNP |
| 10 | g.104161961C>A | CA378091669 | CFAP43 | c.3414G>T (p.Met1138Ile) c.1496G>T c.3417G>T (p.Met1139Ile) c.3531G>T (p.Met1177Ile) c.2760G>T (p.Met920Ile) c.1314G>T (p.Met438Ile) c.3528G>T (p.Met1176Ile) c.3183G>T (p.Met1061Ile) c.1917G>T (p.Met639Ile) n.3300G>T | |
| 10 | g.104161961C>G | CA378091672 | CFAP43 | c.3414G>C (p.Met1138Ile) c.1496G>C c.3417G>C (p.Met1139Ile) c.3531G>C (p.Met1177Ile) c.2760G>C (p.Met920Ile) c.1314G>C (p.Met438Ile) c.3528G>C (p.Met1176Ile) c.3183G>C (p.Met1061Ile) c.1917G>C (p.Met639Ile) n.3300G>C | |
| 10 | g.104161961C>T | CA378091670 | CFAP43 | c.3414G>A (p.Met1138Ile) c.1496G>A c.3417G>A (p.Met1139Ile) c.3531G>A (p.Met1177Ile) c.2760G>A (p.Met920Ile) c.1314G>A (p.Met438Ile) c.3528G>A (p.Met1176Ile) c.3183G>A (p.Met1061Ile) c.1917G>A (p.Met639Ile) n.3300G>A | |
| 10 | g.104161962A= | CA1933459835 | CFAP43 | c.3413T= (p.Met1138=) c.1495T= c.3416T= (p.Met1139=) c.3530T= (p.Met1177=) c.2759T= (p.Met920=) c.1313T= (p.Met438=) c.3527T= (p.Met1176=) c.3182T= (p.Met1061=) c.1916T= (p.Met639=) n.3299T= | |
| 10 | g.104161962A>C | CA378091674 | CFAP43 | c.3413T>G (p.Met1138Arg) c.1495T>G c.3416T>G (p.Met1139Arg) c.3530T>G (p.Met1177Arg) c.2759T>G (p.Met920Arg) c.1313T>G (p.Met438Arg) c.3527T>G (p.Met1176Arg) c.3182T>G (p.Met1061Arg) c.1916T>G (p.Met639Arg) n.3299T>G | |
| 10 | g.104161962A>G | CA378091676 | CFAP43 | c.3413T>C (p.Met1138Thr) c.1495T>C c.3416T>C (p.Met1139Thr) c.3530T>C (p.Met1177Thr) c.2759T>C (p.Met920Thr) c.1313T>C (p.Met438Thr) c.3527T>C (p.Met1176Thr) c.3182T>C (p.Met1061Thr) c.1916T>C (p.Met639Thr) n.3299T>C | dbSNP gnomAD v4 |
| 10 | g.104161962A>T | CA378091677 | CFAP43 | c.3413T>A (p.Met1138Lys) c.1495T>A c.3416T>A (p.Met1139Lys) c.3530T>A (p.Met1177Lys) c.2759T>A (p.Met920Lys) c.1313T>A (p.Met438Lys) c.3527T>A (p.Met1176Lys) c.3182T>A (p.Met1061Lys) c.1916T>A (p.Met639Lys) n.3299T>A | |
| 10 | g.104161963T>A | CA378091680 | CFAP43 | c.3412A>T (p.Met1138Leu) c.1494A>T c.3415A>T (p.Met1139Leu) c.3529A>T (p.Met1177Leu) c.2758A>T (p.Met920Leu) c.1312A>T (p.Met438Leu) c.3526A>T (p.Met1176Leu) c.3181A>T (p.Met1061Leu) c.1915A>T (p.Met639Leu) n.3298A>T | |
| 10 | g.104161963T>C | CA378091681 | CFAP43 | c.3412A>G (p.Met1138Val) c.1494A>G c.3415A>G (p.Met1139Val) c.3529A>G (p.Met1177Val) c.2758A>G (p.Met920Val) c.1312A>G (p.Met438Val) c.3526A>G (p.Met1176Val) c.3181A>G (p.Met1061Val) c.1915A>G (p.Met639Val) n.3298A>G | |
| 10 | g.104161963T>G | CA378091682 | CFAP43 | c.3412A>C (p.Met1138Leu) c.1494A>C c.3415A>C (p.Met1139Leu) c.3529A>C (p.Met1177Leu) c.2758A>C (p.Met920Leu) c.1312A>C (p.Met438Leu) c.3526A>C (p.Met1176Leu) c.3181A>C (p.Met1061Leu) c.1915A>C (p.Met639Leu) n.3298A>C | |
| 10 | g.104161964T>A | CA378091685 | CFAP43 | c.3411A>T (p.Arg1137Ser) c.1493A>T c.3414A>T (p.Arg1138Ser) c.3528A>T (p.Arg1176Ser) c.2757A>T (p.Arg919Ser) c.1311A>T (p.Arg437Ser) c.3525A>T (p.Arg1175Ser) c.3180A>T (p.Arg1060Ser) c.1914A>T (p.Arg638Ser) n.3297A>T | |
| 10 | g.104161964T>C | CA471342158 | CFAP43 | c.3411A>G (p.Arg1137=) c.1493A>G c.3414A>G (p.Arg1138=) c.3528A>G (p.Arg1176=) c.2757A>G (p.Arg919=) c.1311A>G (p.Arg437=) c.3525A>G (p.Arg1175=) c.3180A>G (p.Arg1060=) c.1914A>G (p.Arg638=) n.3297A>G | |
| 10 | g.104161964T>G | CA378091686 | CFAP43 | c.3411A>C (p.Arg1137Ser) c.1493A>C c.3414A>C (p.Arg1138Ser) c.3528A>C (p.Arg1176Ser) c.2757A>C (p.Arg919Ser) c.1311A>C (p.Arg437Ser) c.3525A>C (p.Arg1175Ser) c.3180A>C (p.Arg1060Ser) c.1914A>C (p.Arg638Ser) n.3297A>C | |
| 10 | g.104161965C>A | CA212453364 | CFAP43 | c.3410G>T (p.Arg1137Ile) c.1492G>T c.3413G>T (p.Arg1138Ile) c.3527G>T (p.Arg1176Ile) c.2756G>T (p.Arg919Ile) c.1310G>T (p.Arg437Ile) c.3524G>T (p.Arg1175Ile) c.3179G>T (p.Arg1060Ile) c.1913G>T (p.Arg638Ile) n.3296G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161965C= | CA1933459838 | CFAP43 | c.3410G= (p.Arg1137=) c.1492G= c.3413G= (p.Arg1138=) c.3527G= (p.Arg1176=) c.2756G= (p.Arg919=) c.1310G= (p.Arg437=) c.3524G= (p.Arg1175=) c.3179G= (p.Arg1060=) c.1913G= (p.Arg638=) n.3296G= | |
| 10 | g.104161965C>G | CA378091689 | CFAP43 | c.3410G>C (p.Arg1137Thr) c.1492G>C c.3413G>C (p.Arg1138Thr) c.3527G>C (p.Arg1176Thr) c.2756G>C (p.Arg919Thr) c.1310G>C (p.Arg437Thr) c.3524G>C (p.Arg1175Thr) c.3179G>C (p.Arg1060Thr) c.1913G>C (p.Arg638Thr) n.3296G>C | |
| 10 | g.104161965C>T | CA378091690 | CFAP43 | c.3410G>A (p.Arg1137Lys) c.1492G>A c.3413G>A (p.Arg1138Lys) c.3527G>A (p.Arg1176Lys) c.2756G>A (p.Arg919Lys) c.1310G>A (p.Arg437Lys) c.3524G>A (p.Arg1175Lys) c.3179G>A (p.Arg1060Lys) c.1913G>A (p.Arg638Lys) n.3296G>A | |
| 10 | g.104161966T>A | CA378091693 | CFAP43 | c.3409A>T (p.Arg1137Ter) c.1491A>T c.3412A>T (p.Arg1138Ter) c.3526A>T (p.Arg1176Ter) c.2755A>T (p.Arg919Ter) c.1309A>T (p.Arg437Ter) c.3523A>T (p.Arg1175Ter) c.3178A>T (p.Arg1060Ter) c.1912A>T (p.Arg638Ter) n.3295A>T | |
| 10 | g.104161966T>C | CA378091691 | CFAP43 | c.3409A>G (p.Arg1137Gly) c.1491A>G c.3412A>G (p.Arg1138Gly) c.3526A>G (p.Arg1176Gly) c.2755A>G (p.Arg919Gly) c.1309A>G (p.Arg437Gly) c.3523A>G (p.Arg1175Gly) c.3178A>G (p.Arg1060Gly) c.1912A>G (p.Arg638Gly) n.3295A>G | |
| 10 | g.104161966T>G | CA471342159 | CFAP43 | c.3409A>C (p.Arg1137=) c.1491A>C c.3412A>C (p.Arg1138=) c.3526A>C (p.Arg1176=) c.2755A>C (p.Arg919=) c.1309A>C (p.Arg437=) c.3523A>C (p.Arg1175=) c.3178A>C (p.Arg1060=) c.1912A>C (p.Arg638=) n.3295A>C | |
| 10 | g.104161967C>A | CA378091695 | CFAP43 | c.3408G>T (p.Leu1136Phe) c.1490G>T c.3411G>T (p.Leu1137Phe) c.3525G>T (p.Leu1175Phe) c.2754G>T (p.Leu918Phe) c.1308G>T (p.Leu436Phe) c.3522G>T (p.Leu1174Phe) c.3177G>T (p.Leu1059Phe) c.1911G>T (p.Leu637Phe) n.3294G>T | |
| 10 | g.104161967C>G | CA378091697 | CFAP43 | c.3408G>C (p.Leu1136Phe) c.1490G>C c.3411G>C (p.Leu1137Phe) c.3525G>C (p.Leu1175Phe) c.2754G>C (p.Leu918Phe) c.1308G>C (p.Leu436Phe) c.3522G>C (p.Leu1174Phe) c.3177G>C (p.Leu1059Phe) c.1911G>C (p.Leu637Phe) n.3294G>C | |
| 10 | g.104161967C>T | CA471342160 | CFAP43 | c.3408G>A (p.Leu1136=) c.1490G>A c.3411G>A (p.Leu1137=) c.3525G>A (p.Leu1175=) c.2754G>A (p.Leu918=) c.1308G>A (p.Leu436=) c.3522G>A (p.Leu1174=) c.3177G>A (p.Leu1059=) c.1911G>A (p.Leu637=) n.3294G>A | |
| 10 | g.104161968A>C | CA378091699 | CFAP43 | c.3407T>G (p.Leu1136Trp) c.1489T>G c.3410T>G (p.Leu1137Trp) c.3524T>G (p.Leu1175Trp) c.2753T>G (p.Leu918Trp) c.1307T>G (p.Leu436Trp) c.3521T>G (p.Leu1174Trp) c.3176T>G (p.Leu1059Trp) c.1910T>G (p.Leu637Trp) n.3293T>G | |
| 10 | g.104161968A>G | CA378091700 | CFAP43 | c.3407T>C (p.Leu1136Ser) c.1489T>C c.3410T>C (p.Leu1137Ser) c.3524T>C (p.Leu1175Ser) c.2753T>C (p.Leu918Ser) c.1307T>C (p.Leu436Ser) c.3521T>C (p.Leu1174Ser) c.3176T>C (p.Leu1059Ser) c.1910T>C (p.Leu637Ser) n.3293T>C | |
| 10 | g.104161968A>T | CA378091702 | CFAP43 | c.3407T>A (p.Leu1136Ter) c.1489T>A c.3410T>A (p.Leu1137Ter) c.3524T>A (p.Leu1175Ter) c.2753T>A (p.Leu918Ter) c.1307T>A (p.Leu436Ter) c.3521T>A (p.Leu1174Ter) c.3176T>A (p.Leu1059Ter) c.1910T>A (p.Leu637Ter) n.3293T>A | |
| 10 | g.104161969A>C | CA378091704 | CFAP43 | c.3406T>G (p.Leu1136Val) c.1488T>G c.3409T>G (p.Leu1137Val) c.3523T>G (p.Leu1175Val) c.2752T>G (p.Leu918Val) c.1306T>G (p.Leu436Val) c.3520T>G (p.Leu1174Val) c.3175T>G (p.Leu1059Val) c.1909T>G (p.Leu637Val) n.3292T>G | gnomAD v4 |
| 10 | g.104161969A>G | CA471342161 | CFAP43 | c.3406T>C (p.Leu1136=) c.1488T>C c.3409T>C (p.Leu1137=) c.3523T>C (p.Leu1175=) c.2752T>C (p.Leu918=) c.1306T>C (p.Leu436=) c.3520T>C (p.Leu1174=) c.3175T>C (p.Leu1059=) c.1909T>C (p.Leu637=) n.3292T>C | |
| 10 | g.104161969A>T | CA378091705 | CFAP43 | c.3406T>A (p.Leu1136Met) c.1488T>A c.3409T>A (p.Leu1137Met) c.3523T>A (p.Leu1175Met) c.2752T>A (p.Leu918Met) c.1306T>A (p.Leu436Met) c.3520T>A (p.Leu1174Met) c.3175T>A (p.Leu1059Met) c.1909T>A (p.Leu637Met) n.3292T>A | |
| 10 | g.104161970A>C | CA378091707 | CFAP43 | c.3405T>G (p.Ile1135Met) c.1487T>G c.3408T>G (p.Ile1136Met) c.3522T>G (p.Ile1174Met) c.2751T>G (p.Ile917Met) c.1305T>G (p.Ile435Met) c.3519T>G (p.Ile1173Met) c.3174T>G (p.Ile1058Met) c.1908T>G (p.Ile636Met) n.3291T>G | |
| 10 | g.104161970A>G | CA471342162 | CFAP43 | c.3405T>C (p.Ile1135=) c.1487T>C c.3408T>C (p.Ile1136=) c.3522T>C (p.Ile1174=) c.2751T>C (p.Ile917=) c.1305T>C (p.Ile435=) c.3519T>C (p.Ile1173=) c.3174T>C (p.Ile1058=) c.1908T>C (p.Ile636=) n.3291T>C | gnomAD v4 |
| 10 | g.104161970A>T | CA471342163 | CFAP43 | c.3405T>A (p.Ile1135=) c.1487T>A c.3408T>A (p.Ile1136=) c.3522T>A (p.Ile1174=) c.2751T>A (p.Ile917=) c.1305T>A (p.Ile435=) c.3519T>A (p.Ile1173=) c.3174T>A (p.Ile1058=) c.1908T>A (p.Ile636=) n.3291T>A | |
| 10 | g.104161971A>C | CA378091712 | CFAP43 | c.3404T>G (p.Ile1135Ser) c.1486T>G c.3407T>G (p.Ile1136Ser) c.3521T>G (p.Ile1174Ser) c.2750T>G (p.Ile917Ser) c.1304T>G (p.Ile435Ser) c.3518T>G (p.Ile1173Ser) c.3173T>G (p.Ile1058Ser) c.1907T>G (p.Ile636Ser) n.3290T>G | |
| 10 | g.104161971A>G | CA378091710 | CFAP43 | c.3404T>C (p.Ile1135Thr) c.1486T>C c.3407T>C (p.Ile1136Thr) c.3521T>C (p.Ile1174Thr) c.2750T>C (p.Ile917Thr) c.1304T>C (p.Ile435Thr) c.3518T>C (p.Ile1173Thr) c.3173T>C (p.Ile1058Thr) c.1907T>C (p.Ile636Thr) n.3290T>C | |
| 10 | g.104161971A>T | CA378091711 | CFAP43 | c.3404T>A (p.Ile1135Asn) c.1486T>A c.3407T>A (p.Ile1136Asn) c.3521T>A (p.Ile1174Asn) c.2750T>A (p.Ile917Asn) c.1304T>A (p.Ile435Asn) c.3518T>A (p.Ile1173Asn) c.3173T>A (p.Ile1058Asn) c.1907T>A (p.Ile636Asn) n.3290T>A | |
| 10 | g.104161972T>A | CA378091715 | CFAP43 | c.3403A>T (p.Ile1135Phe) c.1485A>T c.3406A>T (p.Ile1136Phe) c.3520A>T (p.Ile1174Phe) c.2749A>T (p.Ile917Phe) c.1303A>T (p.Ile435Phe) c.3517A>T (p.Ile1173Phe) c.3172A>T (p.Ile1058Phe) c.1906A>T (p.Ile636Phe) n.3289A>T | |
| 10 | g.104161972T>C | CA378091717 | CFAP43 | c.3403A>G (p.Ile1135Val) c.1485A>G c.3406A>G (p.Ile1136Val) c.3520A>G (p.Ile1174Val) c.2749A>G (p.Ile917Val) c.1303A>G (p.Ile435Val) c.3517A>G (p.Ile1173Val) c.3172A>G (p.Ile1058Val) c.1906A>G (p.Ile636Val) n.3289A>G | dbSNP |
| 10 | g.104161972T>G | CA378091718 | CFAP43 | c.3403A>C (p.Ile1135Leu) c.1485A>C c.3406A>C (p.Ile1136Leu) c.3520A>C (p.Ile1174Leu) c.2749A>C (p.Ile917Leu) c.1303A>C (p.Ile435Leu) c.3517A>C (p.Ile1173Leu) c.3172A>C (p.Ile1058Leu) c.1906A>C (p.Ile636Leu) n.3289A>C | |
| 10 | g.104161972T= | CA1933459842 | CFAP43 | c.3403A= (p.Ile1135=) c.1485A= c.3406A= (p.Ile1136=) c.3520A= (p.Ile1174=) c.2749A= (p.Ile917=) c.1303A= (p.Ile435=) c.3517A= (p.Ile1173=) c.3172A= (p.Ile1058=) c.1906A= (p.Ile636=) n.3289A= | |
| 10 | g.104161973A>C | CA378091720 | CFAP43 | c.3402T>G (p.Asp1134Glu) c.1484T>G c.3405T>G (p.Asp1135Glu) c.3519T>G (p.Asp1173Glu) c.2748T>G (p.Asp916Glu) c.1302T>G (p.Asp434Glu) c.3516T>G (p.Asp1172Glu) c.3171T>G (p.Asp1057Glu) c.1905T>G (p.Asp635Glu) n.3288T>G | |
| 10 | g.104161973A>G | CA471342164 | CFAP43 | c.3402T>C (p.Asp1134=) c.1484T>C c.3405T>C (p.Asp1135=) c.3519T>C (p.Asp1173=) c.2748T>C (p.Asp916=) c.1302T>C (p.Asp434=) c.3516T>C (p.Asp1172=) c.3171T>C (p.Asp1057=) c.1905T>C (p.Asp635=) n.3288T>C | |
| 10 | g.104161973A>T | CA378091722 | CFAP43 | c.3402T>A (p.Asp1134Glu) c.1484T>A c.3405T>A (p.Asp1135Glu) c.3519T>A (p.Asp1173Glu) c.2748T>A (p.Asp916Glu) c.1302T>A (p.Asp434Glu) c.3516T>A (p.Asp1172Glu) c.3171T>A (p.Asp1057Glu) c.1905T>A (p.Asp635Glu) n.3288T>A | |
| 10 | g.104161974T>A | CA378091724 | CFAP43 | c.3401A>T (p.Asp1134Val) c.1483A>T c.3404A>T (p.Asp1135Val) c.3518A>T (p.Asp1173Val) c.2747A>T (p.Asp916Val) c.1301A>T (p.Asp434Val) c.3515A>T (p.Asp1172Val) c.3170A>T (p.Asp1057Val) c.1904A>T (p.Asp635Val) n.3287A>T | |
| 10 | g.104161974T>C | CA378091726 | CFAP43 | c.3401A>G (p.Asp1134Gly) c.1483A>G c.3404A>G (p.Asp1135Gly) c.3518A>G (p.Asp1173Gly) c.2747A>G (p.Asp916Gly) c.1301A>G (p.Asp434Gly) c.3515A>G (p.Asp1172Gly) c.3170A>G (p.Asp1057Gly) c.1904A>G (p.Asp635Gly) n.3287A>G | |
| 10 | g.104161974T>G | CA378091725 | CFAP43 | c.3401A>C (p.Asp1134Ala) c.1483A>C c.3404A>C (p.Asp1135Ala) c.3518A>C (p.Asp1173Ala) c.2747A>C (p.Asp916Ala) c.1301A>C (p.Asp434Ala) c.3515A>C (p.Asp1172Ala) c.3170A>C (p.Asp1057Ala) c.1904A>C (p.Asp635Ala) n.3287A>C | |
| 10 | g.104161975C>A | CA378091727 | CFAP43 | c.3400G>T (p.Asp1134Tyr) c.1482G>T c.3403G>T (p.Asp1135Tyr) c.3517G>T (p.Asp1173Tyr) c.2746G>T (p.Asp916Tyr) c.1300G>T (p.Asp434Tyr) c.3514G>T (p.Asp1172Tyr) c.3169G>T (p.Asp1057Tyr) c.1903G>T (p.Asp635Tyr) n.3286G>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.104161975C= | CA1933459846 | CFAP43 | c.3400G= (p.Asp1134=) c.1482G= c.3403G= (p.Asp1135=) c.3517G= (p.Asp1173=) c.2746G= (p.Asp916=) c.1300G= (p.Asp434=) c.3514G= (p.Asp1172=) c.3169G= (p.Asp1057=) c.1903G= (p.Asp635=) n.3286G= | |
| 10 | g.104161975C>G | CA378091729 | CFAP43 | c.3400G>C (p.Asp1134His) c.1482G>C c.3403G>C (p.Asp1135His) c.3517G>C (p.Asp1173His) c.2746G>C (p.Asp916His) c.1300G>C (p.Asp434His) c.3514G>C (p.Asp1172His) c.3169G>C (p.Asp1057His) c.1903G>C (p.Asp635His) n.3286G>C | |
| 10 | g.104161975C>T | CA378091731 | CFAP43 | c.3400G>A (p.Asp1134Asn) c.1482G>A c.3403G>A (p.Asp1135Asn) c.3517G>A (p.Asp1173Asn) c.2746G>A (p.Asp916Asn) c.1300G>A (p.Asp434Asn) c.3514G>A (p.Asp1172Asn) c.3169G>A (p.Asp1057Asn) c.1903G>A (p.Asp635Asn) n.3286G>A | dbSNP |
| 10 | g.104161976T>A | CA378091733 | CFAP43 | c.3399A>T (p.Glu1133Asp) c.1481A>T c.3402A>T (p.Glu1134Asp) c.3516A>T (p.Glu1172Asp) c.2745A>T (p.Glu915Asp) c.1299A>T (p.Glu433Asp) c.3513A>T (p.Glu1171Asp) c.3168A>T (p.Glu1056Asp) c.1902A>T (p.Glu634Asp) n.3285A>T | |
| 10 | g.104161976T>C | CA471342168 | CFAP43 | c.3399A>G (p.Glu1133=) c.1481A>G c.3402A>G (p.Glu1134=) c.3516A>G (p.Glu1172=) c.2745A>G (p.Glu915=) c.1299A>G (p.Glu433=) c.3513A>G (p.Glu1171=) c.3168A>G (p.Glu1056=) c.1902A>G (p.Glu634=) n.3285A>G | gnomAD v4 |
| 10 | g.104161976T>G | CA378091734 | CFAP43 | c.3399A>C (p.Glu1133Asp) c.1481A>C c.3402A>C (p.Glu1134Asp) c.3516A>C (p.Glu1172Asp) c.2745A>C (p.Glu915Asp) c.1299A>C (p.Glu433Asp) c.3513A>C (p.Glu1171Asp) c.3168A>C (p.Glu1056Asp) c.1902A>C (p.Glu634Asp) n.3285A>C | |
| 10 | g.104161977T>A | CA378091736 | CFAP43 | c.3398A>T (p.Glu1133Val) c.1480A>T c.3401A>T (p.Glu1134Val) c.3515A>T (p.Glu1172Val) c.2744A>T (p.Glu915Val) c.1298A>T (p.Glu433Val) c.3512A>T (p.Glu1171Val) c.3167A>T (p.Glu1056Val) c.1901A>T (p.Glu634Val) n.3284A>T | |
| 10 | g.104161977T>C | CA378091738 | CFAP43 | c.3398A>G (p.Glu1133Gly) c.1480A>G c.3401A>G (p.Glu1134Gly) c.3515A>G (p.Glu1172Gly) c.2744A>G (p.Glu915Gly) c.1298A>G (p.Glu433Gly) c.3512A>G (p.Glu1171Gly) c.3167A>G (p.Glu1056Gly) c.1901A>G (p.Glu634Gly) n.3284A>G | |
| 10 | g.104161977T>G | CA378091740 | CFAP43 | c.3398A>C (p.Glu1133Ala) c.1480A>C c.3401A>C (p.Glu1134Ala) c.3515A>C (p.Glu1172Ala) c.2744A>C (p.Glu915Ala) c.1298A>C (p.Glu433Ala) c.3512A>C (p.Glu1171Ala) c.3167A>C (p.Glu1056Ala) c.1901A>C (p.Glu634Ala) n.3284A>C | |
| 10 | g.104161978C>A | CA378091742 | CFAP43 | c.3397G>T (p.Glu1133Ter) c.1479G>T c.3400G>T (p.Glu1134Ter) c.3514G>T (p.Glu1172Ter) c.2743G>T (p.Glu915Ter) c.1297G>T (p.Glu433Ter) c.3511G>T (p.Glu1171Ter) c.3166G>T (p.Glu1056Ter) c.1900G>T (p.Glu634Ter) n.3283G>T | |
| 10 | g.104161978C>G | CA378091746 | CFAP43 | c.3397G>C (p.Glu1133Gln) c.1479G>C c.3400G>C (p.Glu1134Gln) c.3514G>C (p.Glu1172Gln) c.2743G>C (p.Glu915Gln) c.1297G>C (p.Glu433Gln) c.3511G>C (p.Glu1171Gln) c.3166G>C (p.Glu1056Gln) c.1900G>C (p.Glu634Gln) n.3283G>C | |
| 10 | g.104161978C>T | CA378091748 | CFAP43 | c.3397G>A (p.Glu1133Lys) c.1479G>A c.3400G>A (p.Glu1134Lys) c.3514G>A (p.Glu1172Lys) c.2743G>A (p.Glu915Lys) c.1297G>A (p.Glu433Lys) c.3511G>A (p.Glu1171Lys) c.3166G>A (p.Glu1056Lys) c.1900G>A (p.Glu634Lys) n.3283G>A | |
| 10 | g.104161979C>A | CA378091751 | CFAP43 | c.3396G>T (p.Lys1132Asn) c.1478G>T c.3399G>T (p.Lys1133Asn) c.3513G>T (p.Lys1171Asn) c.2742G>T (p.Lys914Asn) c.1296G>T (p.Lys432Asn) c.3510G>T (p.Lys1170Asn) c.3165G>T (p.Lys1055Asn) c.1899G>T (p.Lys633Asn) n.3282G>T | |
| 10 | g.104161979C>G | CA378091749 | CFAP43 | c.3396G>C (p.Lys1132Asn) c.1478G>C c.3399G>C (p.Lys1133Asn) c.3513G>C (p.Lys1171Asn) c.2742G>C (p.Lys914Asn) c.1296G>C (p.Lys432Asn) c.3510G>C (p.Lys1170Asn) c.3165G>C (p.Lys1055Asn) c.1899G>C (p.Lys633Asn) n.3282G>C | |
| 10 | g.104161979C>T | CA471342173 | CFAP43 | c.3396G>A (p.Lys1132=) c.1478G>A c.3399G>A (p.Lys1133=) c.3513G>A (p.Lys1171=) c.2742G>A (p.Lys914=) c.1296G>A (p.Lys432=) c.3510G>A (p.Lys1170=) c.3165G>A (p.Lys1055=) c.1899G>A (p.Lys633=) n.3282G>A | gnomAD v4 |
| 10 | g.104161980T>A | CA5680311 | CFAP43 | c.3395A>T (p.Lys1132Met) c.1477A>T c.3398A>T (p.Lys1133Met) c.3512A>T (p.Lys1171Met) c.2741A>T (p.Lys914Met) c.1295A>T (p.Lys432Met) c.3509A>T (p.Lys1170Met) c.3164A>T (p.Lys1055Met) c.1898A>T (p.Lys633Met) n.3281A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104161980T>C | CA378091754 | CFAP43 | c.3395A>G (p.Lys1132Arg) c.1477A>G c.3398A>G (p.Lys1133Arg) c.3512A>G (p.Lys1171Arg) c.2741A>G (p.Lys914Arg) c.1295A>G (p.Lys432Arg) c.3509A>G (p.Lys1170Arg) c.3164A>G (p.Lys1055Arg) c.1898A>G (p.Lys633Arg) n.3281A>G | |
| 10 | g.104161980T>G | CA378091756 | CFAP43 | c.3395A>C (p.Lys1132Thr) c.1477A>C c.3398A>C (p.Lys1133Thr) c.3512A>C (p.Lys1171Thr) c.2741A>C (p.Lys914Thr) c.1295A>C (p.Lys432Thr) c.3509A>C (p.Lys1170Thr) c.3164A>C (p.Lys1055Thr) c.1898A>C (p.Lys633Thr) n.3281A>C | |
| 10 | g.104161980T= | CA1933459849 | CFAP43 | c.3395A= (p.Lys1132=) c.1477A= c.3398A= (p.Lys1133=) c.3512A= (p.Lys1171=) c.2741A= (p.Lys914=) c.1295A= (p.Lys432=) c.3509A= (p.Lys1170=) c.3164A= (p.Lys1055=) c.1898A= (p.Lys633=) n.3281A= | |
| 10 | g.104161981T>A | CA378091758 | CFAP43 | c.3394A>T (p.Lys1132Ter) c.1476A>T c.3397A>T (p.Lys1133Ter) c.3511A>T (p.Lys1171Ter) c.2740A>T (p.Lys914Ter) c.1294A>T (p.Lys432Ter) c.3508A>T (p.Lys1170Ter) c.3163A>T (p.Lys1055Ter) c.1897A>T (p.Lys633Ter) n.3280A>T | |
| 10 | g.104161981T>C | CA378091759 | CFAP43 | c.3394A>G (p.Lys1132Glu) c.1476A>G c.3397A>G (p.Lys1133Glu) c.3511A>G (p.Lys1171Glu) c.2740A>G (p.Lys914Glu) c.1294A>G (p.Lys432Glu) c.3508A>G (p.Lys1170Glu) c.3163A>G (p.Lys1055Glu) c.1897A>G (p.Lys633Glu) n.3280A>G | ClinVar gnomAD v4 |
| 10 | g.104161981T>G | CA378091761 | CFAP43 | c.3394A>C (p.Lys1132Gln) c.1476A>C c.3397A>C (p.Lys1133Gln) c.3511A>C (p.Lys1171Gln) c.2740A>C (p.Lys914Gln) c.1294A>C (p.Lys432Gln) c.3508A>C (p.Lys1170Gln) c.3163A>C (p.Lys1055Gln) c.1897A>C (p.Lys633Gln) n.3280A>C | |
| 10 | g.104161982C>A | CA378091766 | CFAP43 | c.3393G>T (p.Lys1131Asn) c.1475G>T c.3396G>T (p.Lys1132Asn) c.3510G>T (p.Lys1170Asn) c.2739G>T (p.Lys913Asn) c.1293G>T (p.Lys431Asn) c.3507G>T (p.Lys1169Asn) c.3162G>T (p.Lys1054Asn) c.1896G>T (p.Lys632Asn) n.3279G>T | |
| 10 | g.104161982C= | CA1933459852 | CFAP43 | c.3393G= (p.Lys1131=) c.1475G= c.3396G= (p.Lys1132=) c.3510G= (p.Lys1170=) c.2739G= (p.Lys913=) c.1293G= (p.Lys431=) c.3507G= (p.Lys1169=) c.3162G= (p.Lys1054=) c.1896G= (p.Lys632=) n.3279G= | |
| 10 | g.104161982C>G | CA378091764 | CFAP43 | c.3393G>C (p.Lys1131Asn) c.1475G>C c.3396G>C (p.Lys1132Asn) c.3510G>C (p.Lys1170Asn) c.2739G>C (p.Lys913Asn) c.1293G>C (p.Lys431Asn) c.3507G>C (p.Lys1169Asn) c.3162G>C (p.Lys1054Asn) c.1896G>C (p.Lys632Asn) n.3279G>C | |
| 10 | g.104161982C>T | CA5680312 | CFAP43 | c.3393G>A (p.Lys1131=) c.1475G>A c.3396G>A (p.Lys1132=) c.3510G>A (p.Lys1170=) c.2739G>A (p.Lys913=) c.1293G>A (p.Lys431=) c.3507G>A (p.Lys1169=) c.3162G>A (p.Lys1054=) c.1896G>A (p.Lys632=) n.3279G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104161983T>A | CA5680313 | CFAP43 | c.3392A>T (p.Lys1131Met) c.1474A>T c.3395A>T (p.Lys1132Met) c.3509A>T (p.Lys1170Met) c.2738A>T (p.Lys913Met) c.1292A>T (p.Lys431Met) c.3506A>T (p.Lys1169Met) c.3161A>T (p.Lys1054Met) c.1895A>T (p.Lys632Met) n.3278A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104161983T>C | CA378091769 | CFAP43 | c.3392A>G (p.Lys1131Arg) c.1474A>G c.3395A>G (p.Lys1132Arg) c.3509A>G (p.Lys1170Arg) c.2738A>G (p.Lys913Arg) c.1292A>G (p.Lys431Arg) c.3506A>G (p.Lys1169Arg) c.3161A>G (p.Lys1054Arg) c.1895A>G (p.Lys632Arg) n.3278A>G | |
| 10 | g.104161983T>G | CA378091770 | CFAP43 | c.3392A>C (p.Lys1131Thr) c.1474A>C c.3395A>C (p.Lys1132Thr) c.3509A>C (p.Lys1170Thr) c.2738A>C (p.Lys913Thr) c.1292A>C (p.Lys431Thr) c.3506A>C (p.Lys1169Thr) c.3161A>C (p.Lys1054Thr) c.1895A>C (p.Lys632Thr) n.3278A>C | |
| 10 | g.104161983T= | CA1933459854 | CFAP43 | c.3392A= (p.Lys1131=) c.1474A= c.3395A= (p.Lys1132=) c.3509A= (p.Lys1170=) c.2738A= (p.Lys913=) c.1292A= (p.Lys431=) c.3506A= (p.Lys1169=) c.3161A= (p.Lys1054=) c.1895A= (p.Lys632=) n.3278A= | |
| 10 | g.104161984T>A | CA378091772 | CFAP43 | c.3391A>T (p.Lys1131Ter) c.1473A>T c.3394A>T (p.Lys1132Ter) c.3508A>T (p.Lys1170Ter) c.2737A>T (p.Lys913Ter) c.1291A>T (p.Lys431Ter) c.3505A>T (p.Lys1169Ter) c.3160A>T (p.Lys1054Ter) c.1894A>T (p.Lys632Ter) n.3277A>T | |
| 10 | g.104161984T>C | CA378091773 | CFAP43 | c.3391A>G (p.Lys1131Glu) c.1473A>G c.3394A>G (p.Lys1132Glu) c.3508A>G (p.Lys1170Glu) c.2737A>G (p.Lys913Glu) c.1291A>G (p.Lys431Glu) c.3505A>G (p.Lys1169Glu) c.3160A>G (p.Lys1054Glu) c.1894A>G (p.Lys632Glu) n.3277A>G | |
| 10 | g.104161984T>G | CA5680314 | CFAP43 | c.3391A>C (p.Lys1131Gln) c.1473A>C c.3394A>C (p.Lys1132Gln) c.3508A>C (p.Lys1170Gln) c.2737A>C (p.Lys913Gln) c.1291A>C (p.Lys431Gln) c.3505A>C (p.Lys1169Gln) c.3160A>C (p.Lys1054Gln) c.1894A>C (p.Lys632Gln) n.3277A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104161984T= | CA1933459858 | CFAP43 | c.3391A= (p.Lys1131=) c.1473A= c.3394A= (p.Lys1132=) c.3508A= (p.Lys1170=) c.2737A= (p.Lys913=) c.1291A= (p.Lys431=) c.3505A= (p.Lys1169=) c.3160A= (p.Lys1054=) c.1894A= (p.Lys632=) n.3277A= | |
| 10 | g.104161985G>A | CA471342179 | CFAP43 | c.3390C>T (p.Val1130=) c.1472C>T c.3393C>T (p.Val1131=) c.3507C>T (p.Val1169=) c.2736C>T (p.Val912=) c.1290C>T (p.Val430=) c.3504C>T (p.Val1168=) c.3159C>T (p.Val1053=) c.1893C>T (p.Val631=) n.3276C>T | |
| 10 | g.104161985G>C | CA471342184 | CFAP43 | c.3390C>G (p.Val1130=) c.1472C>G c.3393C>G (p.Val1131=) c.3507C>G (p.Val1169=) c.2736C>G (p.Val912=) c.1290C>G (p.Val430=) c.3504C>G (p.Val1168=) c.3159C>G (p.Val1053=) c.1893C>G (p.Val631=) n.3276C>G | |
| 10 | g.104161985G>T | CA471342181 | CFAP43 | c.3390C>A (p.Val1130=) c.1472C>A c.3393C>A (p.Val1131=) c.3507C>A (p.Val1169=) c.2736C>A (p.Val912=) c.1290C>A (p.Val430=) c.3504C>A (p.Val1168=) c.3159C>A (p.Val1053=) c.1893C>A (p.Val631=) n.3276C>A | |
| 10 | g.104161986A= | CA1933459861 | CFAP43 | c.3389T= (p.Val1130=) c.1471T= c.3392T= (p.Val1131=) c.3506T= (p.Val1169=) c.2735T= (p.Val912=) c.1289T= (p.Val430=) c.3503T= (p.Val1168=) c.3158T= (p.Val1053=) c.1892T= (p.Val631=) n.3275T= | |
| 10 | g.104161986A>C | CA378091774 | CFAP43 | c.3389T>G (p.Val1130Gly) c.1471T>G c.3392T>G (p.Val1131Gly) c.3506T>G (p.Val1169Gly) c.2735T>G (p.Val912Gly) c.1289T>G (p.Val430Gly) c.3503T>G (p.Val1168Gly) c.3158T>G (p.Val1053Gly) c.1892T>G (p.Val631Gly) n.3275T>G | |
| 10 | g.104161986A>G | CA378091778 | CFAP43 | c.3389T>C (p.Val1130Ala) c.1471T>C c.3392T>C (p.Val1131Ala) c.3506T>C (p.Val1169Ala) c.2735T>C (p.Val912Ala) c.1289T>C (p.Val430Ala) c.3503T>C (p.Val1168Ala) c.3158T>C (p.Val1053Ala) c.1892T>C (p.Val631Ala) n.3275T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161986A>T | CA378091776 | CFAP43 | c.3389T>A (p.Val1130Asp) c.1471T>A c.3392T>A (p.Val1131Asp) c.3506T>A (p.Val1169Asp) c.2735T>A (p.Val912Asp) c.1289T>A (p.Val430Asp) c.3503T>A (p.Val1168Asp) c.3158T>A (p.Val1053Asp) c.1892T>A (p.Val631Asp) n.3275T>A | |
| 10 | g.104161987C>A | CA5680315 | CFAP43 | c.3388G>T (p.Val1130Phe) c.1470G>T c.3391G>T (p.Val1131Phe) c.3505G>T (p.Val1169Phe) c.2734G>T (p.Val912Phe) c.1288G>T (p.Val430Phe) c.3502G>T (p.Val1168Phe) c.3157G>T (p.Val1053Phe) c.1891G>T (p.Val631Phe) n.3274G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161987C= | CA1933459865 | CFAP43 | c.3388G= (p.Val1130=) c.1470G= c.3391G= (p.Val1131=) c.3505G= (p.Val1169=) c.2734G= (p.Val912=) c.1288G= (p.Val430=) c.3502G= (p.Val1168=) c.3157G= (p.Val1053=) c.1891G= (p.Val631=) n.3274G= | |
| 10 | g.104161987C>G | CA378091781 | CFAP43 | c.3388G>C (p.Val1130Leu) c.1470G>C c.3391G>C (p.Val1131Leu) c.3505G>C (p.Val1169Leu) c.2734G>C (p.Val912Leu) c.1288G>C (p.Val430Leu) c.3502G>C (p.Val1168Leu) c.3157G>C (p.Val1053Leu) c.1891G>C (p.Val631Leu) n.3274G>C | |
| 10 | g.104161987C>T | CA378091782 | CFAP43 | c.3388G>A (p.Val1130Ile) c.1470G>A c.3391G>A (p.Val1131Ile) c.3505G>A (p.Val1169Ile) c.2734G>A (p.Val912Ile) c.1288G>A (p.Val430Ile) c.3502G>A (p.Val1168Ile) c.3157G>A (p.Val1053Ile) c.1891G>A (p.Val631Ile) n.3274G>A | |
| 10 | g.104161988T>A | CA378091785 | CFAP43 | c.3387A>T (p.Glu1129Asp) c.1469A>T c.3390A>T (p.Glu1130Asp) c.3504A>T (p.Glu1168Asp) c.2733A>T (p.Glu911Asp) c.1287A>T (p.Glu429Asp) c.3501A>T (p.Glu1167Asp) c.3156A>T (p.Glu1052Asp) c.1890A>T (p.Glu630Asp) n.3273A>T | |
| 10 | g.104161988T>C | CA471342188 | CFAP43 | c.3387A>G (p.Glu1129=) c.1469A>G c.3390A>G (p.Glu1130=) c.3504A>G (p.Glu1168=) c.2733A>G (p.Glu911=) c.1287A>G (p.Glu429=) c.3501A>G (p.Glu1167=) c.3156A>G (p.Glu1052=) c.1890A>G (p.Glu630=) n.3273A>G | |
| 10 | g.104161988T>G | CA378091786 | CFAP43 | c.3387A>C (p.Glu1129Asp) c.1469A>C c.3390A>C (p.Glu1130Asp) c.3504A>C (p.Glu1168Asp) c.2733A>C (p.Glu911Asp) c.1287A>C (p.Glu429Asp) c.3501A>C (p.Glu1167Asp) c.3156A>C (p.Glu1052Asp) c.1890A>C (p.Glu630Asp) n.3273A>C | |
| 10 | g.104161989T>A | CA378091788 | CFAP43 | c.3386A>T (p.Glu1129Val) c.1468A>T c.3389A>T (p.Glu1130Val) c.3503A>T (p.Glu1168Val) c.2732A>T (p.Glu911Val) c.1286A>T (p.Glu429Val) c.3500A>T (p.Glu1167Val) c.3155A>T (p.Glu1052Val) c.1889A>T (p.Glu630Val) n.3272A>T | |
| 10 | g.104161989T>C | CA378091790 | CFAP43 | c.3386A>G (p.Glu1129Gly) c.1468A>G c.3389A>G (p.Glu1130Gly) c.3503A>G (p.Glu1168Gly) c.2732A>G (p.Glu911Gly) c.1286A>G (p.Glu429Gly) c.3500A>G (p.Glu1167Gly) c.3155A>G (p.Glu1052Gly) c.1889A>G (p.Glu630Gly) n.3272A>G | |
| 10 | g.104161989T>G | CA378091791 | CFAP43 | c.3386A>C (p.Glu1129Ala) c.1468A>C c.3389A>C (p.Glu1130Ala) c.3503A>C (p.Glu1168Ala) c.2732A>C (p.Glu911Ala) c.1286A>C (p.Glu429Ala) c.3500A>C (p.Glu1167Ala) c.3155A>C (p.Glu1052Ala) c.1889A>C (p.Glu630Ala) n.3272A>C | |
| 10 | g.104161990C>A | CA378091794 | CFAP43 | c.3385G>T (p.Glu1129Ter) c.1467G>T c.3388G>T (p.Glu1130Ter) c.3502G>T (p.Glu1168Ter) c.2731G>T (p.Glu911Ter) c.1285G>T (p.Glu429Ter) c.3499G>T (p.Glu1167Ter) c.3154G>T (p.Glu1052Ter) c.1888G>T (p.Glu630Ter) n.3271G>T | |
| 10 | g.104161990C>G | CA378091796 | CFAP43 | c.3385G>C (p.Glu1129Gln) c.1467G>C c.3388G>C (p.Glu1130Gln) c.3502G>C (p.Glu1168Gln) c.2731G>C (p.Glu911Gln) c.1285G>C (p.Glu429Gln) c.3499G>C (p.Glu1167Gln) c.3154G>C (p.Glu1052Gln) c.1888G>C (p.Glu630Gln) n.3271G>C | |
| 10 | g.104161990C>T | CA378091797 | CFAP43 | c.3385G>A (p.Glu1129Lys) c.1467G>A c.3388G>A (p.Glu1130Lys) c.3502G>A (p.Glu1168Lys) c.2731G>A (p.Glu911Lys) c.1285G>A (p.Glu429Lys) c.3499G>A (p.Glu1167Lys) c.3154G>A (p.Glu1052Lys) c.1888G>A (p.Glu630Lys) n.3271G>A | |
| 10 | g.104161991C>A | CA471342193 | CFAP43 | c.3384G>T (p.Leu1128=) c.1466G>T c.3387G>T (p.Leu1129=) c.3501G>T (p.Leu1167=) c.2730G>T (p.Leu910=) c.1284G>T (p.Leu428=) c.3498G>T (p.Leu1166=) c.3153G>T (p.Leu1051=) c.1887G>T (p.Leu629=) n.3270G>T | |
| 10 | g.104161991C>G | CA471342194 | CFAP43 | c.3384G>C (p.Leu1128=) c.1466G>C c.3387G>C (p.Leu1129=) c.3501G>C (p.Leu1167=) c.2730G>C (p.Leu910=) c.1284G>C (p.Leu428=) c.3498G>C (p.Leu1166=) c.3153G>C (p.Leu1051=) c.1887G>C (p.Leu629=) n.3270G>C | |
| 10 | g.104161991C>T | CA471342195 | CFAP43 | c.3384G>A (p.Leu1128=) c.1466G>A c.3387G>A (p.Leu1129=) c.3501G>A (p.Leu1167=) c.2730G>A (p.Leu910=) c.1284G>A (p.Leu428=) c.3498G>A (p.Leu1166=) c.3153G>A (p.Leu1051=) c.1887G>A (p.Leu629=) n.3270G>A | |
| 10 | g.104161992A>C | CA378091800 | CFAP43 | c.3383T>G (p.Leu1128Arg) c.1465T>G c.3386T>G (p.Leu1129Arg) c.3500T>G (p.Leu1167Arg) c.2729T>G (p.Leu910Arg) c.1283T>G (p.Leu428Arg) c.3497T>G (p.Leu1166Arg) c.3152T>G (p.Leu1051Arg) c.1886T>G (p.Leu629Arg) n.3269T>G | |
| 10 | g.104161992A>G | CA378091803 | CFAP43 | c.3383T>C (p.Leu1128Pro) c.1465T>C c.3386T>C (p.Leu1129Pro) c.3500T>C (p.Leu1167Pro) c.2729T>C (p.Leu910Pro) c.1283T>C (p.Leu428Pro) c.3497T>C (p.Leu1166Pro) c.3152T>C (p.Leu1051Pro) c.1886T>C (p.Leu629Pro) n.3269T>C | |
| 10 | g.104161992A>T | CA378091801 | CFAP43 | c.3383T>A (p.Leu1128Gln) c.1465T>A c.3386T>A (p.Leu1129Gln) c.3500T>A (p.Leu1167Gln) c.2729T>A (p.Leu910Gln) c.1283T>A (p.Leu428Gln) c.3497T>A (p.Leu1166Gln) c.3152T>A (p.Leu1051Gln) c.1886T>A (p.Leu629Gln) n.3269T>A | |
| 10 | g.104161993G>A | CA471342196 | CFAP43 | c.3382C>T (p.Leu1128=) c.1464C>T c.3385C>T (p.Leu1129=) c.3499C>T (p.Leu1167=) c.2728C>T (p.Leu910=) c.1282C>T (p.Leu428=) c.3496C>T (p.Leu1166=) c.3151C>T (p.Leu1051=) c.1885C>T (p.Leu629=) n.3268C>T | |
| 10 | g.104161993G>C | CA378091804 | CFAP43 | c.3382C>G (p.Leu1128Val) c.1464C>G c.3385C>G (p.Leu1129Val) c.3499C>G (p.Leu1167Val) c.2728C>G (p.Leu910Val) c.1282C>G (p.Leu428Val) c.3496C>G (p.Leu1166Val) c.3151C>G (p.Leu1051Val) c.1885C>G (p.Leu629Val) n.3268C>G | |
| 10 | g.104161993G>T | CA378091806 | CFAP43 | c.3382C>A (p.Leu1128Met) c.1464C>A c.3385C>A (p.Leu1129Met) c.3499C>A (p.Leu1167Met) c.2728C>A (p.Leu910Met) c.1282C>A (p.Leu428Met) c.3496C>A (p.Leu1166Met) c.3151C>A (p.Leu1051Met) c.1885C>A (p.Leu629Met) n.3268C>A | |
| 10 | g.104161994A>C | CA471342202 | CFAP43 | c.3381T>G (p.Val1127=) c.1463T>G c.3384T>G (p.Val1128=) c.3498T>G (p.Val1166=) c.2727T>G (p.Val909=) c.1281T>G (p.Val427=) c.3495T>G (p.Val1165=) c.3150T>G (p.Val1050=) c.1884T>G (p.Val628=) n.3267T>G | |
| 10 | g.104161994A>G | CA471342203 | CFAP43 | c.3381T>C (p.Val1127=) c.1463T>C c.3384T>C (p.Val1128=) c.3498T>C (p.Val1166=) c.2727T>C (p.Val909=) c.1281T>C (p.Val427=) c.3495T>C (p.Val1165=) c.3150T>C (p.Val1050=) c.1884T>C (p.Val628=) n.3267T>C | |
| 10 | g.104161994A>T | CA471342204 | CFAP43 | c.3381T>A (p.Val1127=) c.1463T>A c.3384T>A (p.Val1128=) c.3498T>A (p.Val1166=) c.2727T>A (p.Val909=) c.1281T>A (p.Val427=) c.3495T>A (p.Val1165=) c.3150T>A (p.Val1050=) c.1884T>A (p.Val628=) n.3267T>A | |
| 10 | g.104161995A>C | CA378091808 | CFAP43 | c.3380T>G (p.Val1127Gly) c.1462T>G c.3383T>G (p.Val1128Gly) c.3497T>G (p.Val1166Gly) c.2726T>G (p.Val909Gly) c.1280T>G (p.Val427Gly) c.3494T>G (p.Val1165Gly) c.3149T>G (p.Val1050Gly) c.1883T>G (p.Val628Gly) n.3266T>G | |
| 10 | g.104161995A>G | CA378091809 | CFAP43 | c.3380T>C (p.Val1127Ala) c.1462T>C c.3383T>C (p.Val1128Ala) c.3497T>C (p.Val1166Ala) c.2726T>C (p.Val909Ala) c.1280T>C (p.Val427Ala) c.3494T>C (p.Val1165Ala) c.3149T>C (p.Val1050Ala) c.1883T>C (p.Val628Ala) n.3266T>C | |
| 10 | g.104161995A>T | CA378091810 | CFAP43 | c.3380T>A (p.Val1127Asp) c.1462T>A c.3383T>A (p.Val1128Asp) c.3497T>A (p.Val1166Asp) c.2726T>A (p.Val909Asp) c.1280T>A (p.Val427Asp) c.3494T>A (p.Val1165Asp) c.3149T>A (p.Val1050Asp) c.1883T>A (p.Val628Asp) n.3266T>A | |
| 10 | g.104161996C>A | CA378091816 | CFAP43 | c.3379G>T (p.Val1127Phe) c.1461G>T c.3382G>T (p.Val1128Phe) c.3496G>T (p.Val1166Phe) c.2725G>T (p.Val909Phe) c.1279G>T (p.Val427Phe) c.3493G>T (p.Val1165Phe) c.3148G>T (p.Val1050Phe) c.1882G>T (p.Val628Phe) n.3265G>T | |
| 10 | g.104161996C>G | CA378091814 | CFAP43 | c.3379G>C (p.Val1127Leu) c.1461G>C c.3382G>C (p.Val1128Leu) c.3496G>C (p.Val1166Leu) c.2725G>C (p.Val909Leu) c.1279G>C (p.Val427Leu) c.3493G>C (p.Val1165Leu) c.3148G>C (p.Val1050Leu) c.1882G>C (p.Val628Leu) n.3265G>C | |
| 10 | g.104161996C>T | CA378091812 | CFAP43 | c.3379G>A (p.Val1127Ile) c.1461G>A c.3382G>A (p.Val1128Ile) c.3496G>A (p.Val1166Ile) c.2725G>A (p.Val909Ile) c.1279G>A (p.Val427Ile) c.3493G>A (p.Val1165Ile) c.3148G>A (p.Val1050Ile) c.1882G>A (p.Val628Ile) n.3265G>A | |
| 10 | g.104161997T>A | CA471342208 | CFAP43 | c.3378A>T (p.Gly1126=) c.1460A>T c.3381A>T (p.Gly1127=) c.3495A>T (p.Gly1165=) c.2724A>T (p.Gly908=) c.1278A>T (p.Gly426=) c.3492A>T (p.Gly1164=) c.3147A>T (p.Gly1049=) c.1881A>T (p.Gly627=) n.3264A>T | |
| 10 | g.104161997T>C | CA471342210 | CFAP43 | c.3378A>G (p.Gly1126=) c.1460A>G c.3381A>G (p.Gly1127=) c.3495A>G (p.Gly1165=) c.2724A>G (p.Gly908=) c.1278A>G (p.Gly426=) c.3492A>G (p.Gly1164=) c.3147A>G (p.Gly1049=) c.1881A>G (p.Gly627=) n.3264A>G | gnomAD v4 |
| 10 | g.104161997T>G | CA471342211 | CFAP43 | c.3378A>C (p.Gly1126=) c.1460A>C c.3381A>C (p.Gly1127=) c.3495A>C (p.Gly1165=) c.2724A>C (p.Gly908=) c.1278A>C (p.Gly426=) c.3492A>C (p.Gly1164=) c.3147A>C (p.Gly1049=) c.1881A>C (p.Gly627=) n.3264A>C | |
| 10 | g.104161998C>A | CA212453380 | CFAP43 | c.3377G>T (p.Gly1126Val) c.1459G>T c.3380G>T (p.Gly1127Val) c.3494G>T (p.Gly1165Val) c.2723G>T (p.Gly908Val) c.1277G>T (p.Gly426Val) c.3491G>T (p.Gly1164Val) c.3146G>T (p.Gly1049Val) c.1880G>T (p.Gly627Val) n.3263G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104161998C= | CA1933459870 | CFAP43 | c.3377G= (p.Gly1126=) c.1459G= c.3380G= (p.Gly1127=) c.3494G= (p.Gly1165=) c.2723G= (p.Gly908=) c.1277G= (p.Gly426=) c.3491G= (p.Gly1164=) c.3146G= (p.Gly1049=) c.1880G= (p.Gly627=) n.3263G= | |
| 10 | g.104161998C>G | CA378091818 | CFAP43 | c.3377G>C (p.Gly1126Ala) c.1459G>C c.3380G>C (p.Gly1127Ala) c.3494G>C (p.Gly1165Ala) c.2723G>C (p.Gly908Ala) c.1277G>C (p.Gly426Ala) c.3491G>C (p.Gly1164Ala) c.3146G>C (p.Gly1049Ala) c.1880G>C (p.Gly627Ala) n.3263G>C | |
| 10 | g.104161998C>T | CA378091819 | CFAP43 | c.3377G>A (p.Gly1126Glu) c.1459G>A c.3380G>A (p.Gly1127Glu) c.3494G>A (p.Gly1165Glu) c.2723G>A (p.Gly908Glu) c.1277G>A (p.Gly426Glu) c.3491G>A (p.Gly1164Glu) c.3146G>A (p.Gly1049Glu) c.1880G>A (p.Gly627Glu) n.3263G>A | |
| 10 | g.104161999C>A | CA378091821 | CFAP43 | c.3376G>T (p.Gly1126Ter) c.1458G>T c.3379G>T (p.Gly1127Ter) c.3493G>T (p.Gly1165Ter) c.2722G>T (p.Gly908Ter) c.1276G>T (p.Gly426Ter) c.3490G>T (p.Gly1164Ter) c.3145G>T (p.Gly1049Ter) c.1879G>T (p.Gly627Ter) n.3262G>T | |
| 10 | g.104161999C>G | CA378091823 | CFAP43 | c.3376G>C (p.Gly1126Arg) c.1458G>C c.3379G>C (p.Gly1127Arg) c.3493G>C (p.Gly1165Arg) c.2722G>C (p.Gly908Arg) c.1276G>C (p.Gly426Arg) c.3490G>C (p.Gly1164Arg) c.3145G>C (p.Gly1049Arg) c.1879G>C (p.Gly627Arg) n.3262G>C | |
| 10 | g.104161999C>T | CA378091824 | CFAP43 | c.3376G>A (p.Gly1126Arg) c.1458G>A c.3379G>A (p.Gly1127Arg) c.3493G>A (p.Gly1165Arg) c.2722G>A (p.Gly908Arg) c.1276G>A (p.Gly426Arg) c.3490G>A (p.Gly1164Arg) c.3145G>A (p.Gly1049Arg) c.1879G>A (p.Gly627Arg) n.3262G>A | |
| 10 | g.104162000T>A | CA471342215 | CFAP43 | c.3375A>T (p.Gly1125=) c.1457A>T c.3378A>T (p.Gly1126=) c.3492A>T (p.Gly1164=) c.2721A>T (p.Gly907=) c.1275A>T (p.Gly425=) c.3489A>T (p.Gly1163=) c.3144A>T (p.Gly1048=) c.1878A>T (p.Gly626=) n.3261A>T | |
| 10 | g.104162000T>C | CA471342217 | CFAP43 | c.3375A>G (p.Gly1125=) c.1457A>G c.3378A>G (p.Gly1126=) c.3492A>G (p.Gly1164=) c.2721A>G (p.Gly907=) c.1275A>G (p.Gly425=) c.3489A>G (p.Gly1163=) c.3144A>G (p.Gly1048=) c.1878A>G (p.Gly626=) n.3261A>G | gnomAD v4 |
| 10 | g.104162000T>G | CA471342216 | CFAP43 | c.3375A>C (p.Gly1125=) c.1457A>C c.3378A>C (p.Gly1126=) c.3492A>C (p.Gly1164=) c.2721A>C (p.Gly907=) c.1275A>C (p.Gly425=) c.3489A>C (p.Gly1163=) c.3144A>C (p.Gly1048=) c.1878A>C (p.Gly626=) n.3261A>C | |
| 10 | g.104162000_104162001delinsTC | CA1933459872 | CFAP43 | c.3374_3375delinsGA (p.Gly1125=) c.1456_1457delinsGA c.3377_3378delinsGA (p.Gly1126=) c.3491_3492delinsGA (p.Gly1164=) c.2720_2721delinsGA (p.Gly907=) c.1274_1275delinsGA (p.Gly425=) c.3488_3489delinsGA (p.Gly1163=) c.3143_3144delinsGA (p.Gly1048=) c.1877_1878delinsGA (p.Gly626=) n.3260_3261delinsGA | |
| 10 | g.104162001C>A | CA378091827 | CFAP43 | c.3374G>T (p.Gly1125Val) c.1456G>T c.3377G>T (p.Gly1126Val) c.3491G>T (p.Gly1164Val) c.2720G>T (p.Gly907Val) c.1274G>T (p.Gly425Val) c.3488G>T (p.Gly1163Val) c.3143G>T (p.Gly1048Val) c.1877G>T (p.Gly626Val) n.3260G>T | |
| 10 | g.104162001C>G | CA378091825 | CFAP43 | c.3374G>C (p.Gly1125Ala) c.1456G>C c.3377G>C (p.Gly1126Ala) c.3491G>C (p.Gly1164Ala) c.2720G>C (p.Gly907Ala) c.1274G>C (p.Gly425Ala) c.3488G>C (p.Gly1163Ala) c.3143G>C (p.Gly1048Ala) c.1877G>C (p.Gly626Ala) n.3260G>C | |
| 10 | g.104162001C>T | CA378091826 | CFAP43 | c.3374G>A (p.Gly1125Glu) c.1456G>A c.3377G>A (p.Gly1126Glu) c.3491G>A (p.Gly1164Glu) c.2720G>A (p.Gly907Glu) c.1274G>A (p.Gly425Glu) c.3488G>A (p.Gly1163Glu) c.3143G>A (p.Gly1048Glu) c.1877G>A (p.Gly626Glu) n.3260G>A | |
| 10 | g.104162003del | CA5680316 | CFAP43 | c.3374del (p.Gly1125GlufsTer12) c.1456del c.3377del (p.Gly1126GlufsTer12) c.3491del (p.Gly1164GlufsTer12) c.2720del (p.Gly907GlufsTer12) c.1274del (p.Gly425GlufsTer12) c.3488del (p.Gly1163GlufsTer12) c.3143del (p.Gly1048GlufsTer12) c.1877del (p.Gly626GlufsTer12) n.3260del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104162002C>A | CA378091828 | CFAP43 | c.3373G>T (p.Gly1125Ter) c.1455G>T c.3376G>T (p.Gly1126Ter) c.3490G>T (p.Gly1164Ter) c.2719G>T (p.Gly907Ter) c.1273G>T (p.Gly425Ter) c.3487G>T (p.Gly1163Ter) c.3142G>T (p.Gly1048Ter) c.1876G>T (p.Gly626Ter) n.3259G>T | COSMIC |
| 10 | g.104162002C= | CA1933459879 | CFAP43 | c.3373G= (p.Gly1125=) c.1455G= c.3376G= (p.Gly1126=) c.3490G= (p.Gly1164=) c.2719G= (p.Gly907=) c.1273G= (p.Gly425=) c.3487G= (p.Gly1163=) c.3142G= (p.Gly1048=) c.1876G= (p.Gly626=) n.3259G= | |
| 10 | g.104162002C>G | CA378091829 | CFAP43 | c.3373G>C (p.Gly1125Arg) c.1455G>C c.3376G>C (p.Gly1126Arg) c.3490G>C (p.Gly1164Arg) c.2719G>C (p.Gly907Arg) c.1273G>C (p.Gly425Arg) c.3487G>C (p.Gly1163Arg) c.3142G>C (p.Gly1048Arg) c.1876G>C (p.Gly626Arg) n.3259G>C | gnomAD v4 |
| 10 | g.104162002C>T | CA5680317 | CFAP43 | c.3373G>A (p.Gly1125Arg) c.1455G>A c.3376G>A (p.Gly1126Arg) c.3490G>A (p.Gly1164Arg) c.2719G>A (p.Gly907Arg) c.1273G>A (p.Gly425Arg) c.3487G>A (p.Gly1163Arg) c.3142G>A (p.Gly1048Arg) c.1876G>A (p.Gly626Arg) n.3259G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104162003C>A | CA378091831 | CFAP43 | c.3372G>T (p.Met1124Ile) c.1454G>T c.3375G>T (p.Met1125Ile) c.3489G>T (p.Met1163Ile) c.2718G>T (p.Met906Ile) c.1272G>T (p.Met424Ile) c.3486G>T (p.Met1162Ile) c.3141G>T (p.Met1047Ile) c.1875G>T (p.Met625Ile) n.3258G>T | |
| 10 | g.104162003C>G | CA378091832 | CFAP43 | c.3372G>C (p.Met1124Ile) c.1454G>C c.3375G>C (p.Met1125Ile) c.3489G>C (p.Met1163Ile) c.2718G>C (p.Met906Ile) c.1272G>C (p.Met424Ile) c.3486G>C (p.Met1162Ile) c.3141G>C (p.Met1047Ile) c.1875G>C (p.Met625Ile) n.3258G>C | |
| 10 | g.104162003C>T | CA378091834 | CFAP43 | c.3372G>A (p.Met1124Ile) c.1454G>A c.3375G>A (p.Met1125Ile) c.3489G>A (p.Met1163Ile) c.2718G>A (p.Met906Ile) c.1272G>A (p.Met424Ile) c.3486G>A (p.Met1162Ile) c.3141G>A (p.Met1047Ile) c.1875G>A (p.Met625Ile) n.3258G>A | |
| 10 | g.104162004A= | CA1933459882 | CFAP43 | c.3371T= (p.Met1124=) c.1453T= c.3374T= (p.Met1125=) c.3488T= (p.Met1163=) c.2717T= (p.Met906=) c.1271T= (p.Met424=) c.3485T= (p.Met1162=) c.3140T= (p.Met1047=) c.1874T= (p.Met625=) n.3257T= | |
| 10 | g.104162004A>C | CA378091836 | CFAP43 | c.3371T>G (p.Met1124Arg) c.1453T>G c.3374T>G (p.Met1125Arg) c.3488T>G (p.Met1163Arg) c.2717T>G (p.Met906Arg) c.1271T>G (p.Met424Arg) c.3485T>G (p.Met1162Arg) c.3140T>G (p.Met1047Arg) c.1874T>G (p.Met625Arg) n.3257T>G | |
| 10 | g.104162004A>G | CA378091838 | CFAP43 | c.3371T>C (p.Met1124Thr) c.1453T>C c.3374T>C (p.Met1125Thr) c.3488T>C (p.Met1163Thr) c.2717T>C (p.Met906Thr) c.1271T>C (p.Met424Thr) c.3485T>C (p.Met1162Thr) c.3140T>C (p.Met1047Thr) c.1874T>C (p.Met625Thr) n.3257T>C | dbSNP |
| 10 | g.104162004A>T | CA378091840 | CFAP43 | c.3371T>A (p.Met1124Lys) c.1453T>A c.3374T>A (p.Met1125Lys) c.3488T>A (p.Met1163Lys) c.2717T>A (p.Met906Lys) c.1271T>A (p.Met424Lys) c.3485T>A (p.Met1162Lys) c.3140T>A (p.Met1047Lys) c.1874T>A (p.Met625Lys) n.3257T>A | |
| 10 | g.104162005T>A | CA378091842 | CFAP43 | c.3370A>T (p.Met1124Leu) c.1452A>T c.3373A>T (p.Met1125Leu) c.3487A>T (p.Met1163Leu) c.2716A>T (p.Met906Leu) c.1270A>T (p.Met424Leu) c.3484A>T (p.Met1162Leu) c.3139A>T (p.Met1047Leu) c.1873A>T (p.Met625Leu) n.3256A>T | |
| 10 | g.104162005T>C | CA378091844 | CFAP43 | c.3370A>G (p.Met1124Val) c.1452A>G c.3373A>G (p.Met1125Val) c.3487A>G (p.Met1163Val) c.2716A>G (p.Met906Val) c.1270A>G (p.Met424Val) c.3484A>G (p.Met1162Val) c.3139A>G (p.Met1047Val) c.1873A>G (p.Met625Val) n.3256A>G | |
| 10 | g.104162005T>G | CA378091845 | CFAP43 | c.3370A>C (p.Met1124Leu) c.1452A>C c.3373A>C (p.Met1125Leu) c.3487A>C (p.Met1163Leu) c.2716A>C (p.Met906Leu) c.1270A>C (p.Met424Leu) c.3484A>C (p.Met1162Leu) c.3139A>C (p.Met1047Leu) c.1873A>C (p.Met625Leu) n.3256A>C | |
| 10 | g.104162006C>A | CA5680318 | CFAP43 | c.3369G>T (p.Met1123Ile) c.1451G>T c.3372G>T (p.Met1124Ile) c.3486G>T (p.Met1162Ile) c.2715G>T (p.Met905Ile) c.1269G>T (p.Met423Ile) c.3483G>T (p.Met1161Ile) c.3138G>T (p.Met1046Ile) c.1872G>T (p.Met624Ile) n.3255G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104162006C= | CA1933459886 | CFAP43 | c.3369G= (p.Met1123=) c.1451G= c.3372G= (p.Met1124=) c.3486G= (p.Met1162=) c.2715G= (p.Met905=) c.1269G= (p.Met423=) c.3483G= (p.Met1161=) c.3138G= (p.Met1046=) c.1872G= (p.Met624=) n.3255G= | |
| 10 | g.104162006C>G | CA378091848 | CFAP43 | c.3369G>C (p.Met1123Ile) c.1451G>C c.3372G>C (p.Met1124Ile) c.3486G>C (p.Met1162Ile) c.2715G>C (p.Met905Ile) c.1269G>C (p.Met423Ile) c.3483G>C (p.Met1161Ile) c.3138G>C (p.Met1046Ile) c.1872G>C (p.Met624Ile) n.3255G>C | |
| 10 | g.104162006C>T | CA378091850 | CFAP43 | c.3369G>A (p.Met1123Ile) c.1451G>A c.3372G>A (p.Met1124Ile) c.3486G>A (p.Met1162Ile) c.2715G>A (p.Met905Ile) c.1269G>A (p.Met423Ile) c.3483G>A (p.Met1161Ile) c.3138G>A (p.Met1046Ile) c.1872G>A (p.Met624Ile) n.3255G>A | gnomAD v4 |
| 10 | g.104162007del | CA2610809171 | CFAP43 | c.3368del (p.Met1123ArgfsTer14) c.1450del c.3371del (p.Met1124ArgfsTer14) c.3485del (p.Met1162ArgfsTer14) c.2714del (p.Met905ArgfsTer14) c.1268del (p.Met423ArgfsTer14) c.3482del (p.Met1161ArgfsTer14) c.3137del (p.Met1046ArgfsTer14) c.1871del (p.Met624ArgfsTer14) n.3254del | gnomAD v4 |
| 10 | g.104162007A= | CA1933459890 | CFAP43 | c.3368T= (p.Met1123=) c.1450T= c.3371T= (p.Met1124=) c.3485T= (p.Met1162=) c.2714T= (p.Met905=) c.1268T= (p.Met423=) c.3482T= (p.Met1161=) c.3137T= (p.Met1046=) c.1871T= (p.Met624=) n.3254T= | |
| 10 | g.104162007A>C | CA378091853 | CFAP43 | c.3368T>G (p.Met1123Arg) c.1450T>G c.3371T>G (p.Met1124Arg) c.3485T>G (p.Met1162Arg) c.2714T>G (p.Met905Arg) c.1268T>G (p.Met423Arg) c.3482T>G (p.Met1161Arg) c.3137T>G (p.Met1046Arg) c.1871T>G (p.Met624Arg) n.3254T>G | |
| 10 | g.104162007A>G | CA212453388 | CFAP43 | c.3368T>C (p.Met1123Thr) c.1450T>C c.3371T>C (p.Met1124Thr) c.3485T>C (p.Met1162Thr) c.2714T>C (p.Met905Thr) c.1268T>C (p.Met423Thr) c.3482T>C (p.Met1161Thr) c.3137T>C (p.Met1046Thr) c.1871T>C (p.Met624Thr) n.3254T>C | dbSNP |
| 10 | g.104162007A>T | CA378091855 | CFAP43 | c.3368T>A (p.Met1123Lys) c.1450T>A c.3371T>A (p.Met1124Lys) c.3485T>A (p.Met1162Lys) c.2714T>A (p.Met905Lys) c.1268T>A (p.Met423Lys) c.3482T>A (p.Met1161Lys) c.3137T>A (p.Met1046Lys) c.1871T>A (p.Met624Lys) n.3254T>A | |
| 10 | g.104162008T>A | CA378091857 | CFAP43 | c.3367A>T (p.Met1123Leu) c.1449A>T c.3370A>T (p.Met1124Leu) c.3484A>T (p.Met1162Leu) c.2713A>T (p.Met905Leu) c.1267A>T (p.Met423Leu) c.3481A>T (p.Met1161Leu) c.3136A>T (p.Met1046Leu) c.1870A>T (p.Met624Leu) n.3253A>T | gnomAD v4 |
| 10 | g.104162008T>C | CA378091859 | CFAP43 | c.3367A>G (p.Met1123Val) c.1449A>G c.3370A>G (p.Met1124Val) c.3484A>G (p.Met1162Val) c.2713A>G (p.Met905Val) c.1267A>G (p.Met423Val) c.3481A>G (p.Met1161Val) c.3136A>G (p.Met1046Val) c.1870A>G (p.Met624Val) n.3253A>G | |
| 10 | g.104162008T>G | CA378091861 | CFAP43 | c.3367A>C (p.Met1123Leu) c.1449A>C c.3370A>C (p.Met1124Leu) c.3484A>C (p.Met1162Leu) c.2713A>C (p.Met905Leu) c.1267A>C (p.Met423Leu) c.3481A>C (p.Met1161Leu) c.3136A>C (p.Met1046Leu) c.1870A>C (p.Met624Leu) n.3253A>C | |
| 10 | g.104162009G>A | CA471342231 | CFAP43 | c.3366C>T (p.Asp1122=) c.1448C>T c.3369C>T (p.Asp1123=) c.3483C>T (p.Asp1161=) c.2712C>T (p.Asp904=) c.1266C>T (p.Asp422=) c.3480C>T (p.Asp1160=) c.3135C>T (p.Asp1045=) c.1869C>T (p.Asp623=) n.3252C>T | |
| 10 | g.104162009G>C | CA378091866 | CFAP43 | c.3366C>G (p.Asp1122Glu) c.1448C>G c.3369C>G (p.Asp1123Glu) c.3483C>G (p.Asp1161Glu) c.2712C>G (p.Asp904Glu) c.1266C>G (p.Asp422Glu) c.3480C>G (p.Asp1160Glu) c.3135C>G (p.Asp1045Glu) c.1869C>G (p.Asp623Glu) n.3252C>G | |
| 10 | g.104162009G>T | CA378091864 | CFAP43 | c.3366C>A (p.Asp1122Glu) c.1448C>A c.3369C>A (p.Asp1123Glu) c.3483C>A (p.Asp1161Glu) c.2712C>A (p.Asp904Glu) c.1266C>A (p.Asp422Glu) c.3480C>A (p.Asp1160Glu) c.3135C>A (p.Asp1045Glu) c.1869C>A (p.Asp623Glu) n.3252C>A | |
| 10 | g.104162010T>A | CA378091869 | CFAP43 | c.3365A>T (p.Asp1122Val) c.1447A>T c.3368A>T (p.Asp1123Val) c.3482A>T (p.Asp1161Val) c.2711A>T (p.Asp904Val) c.1265A>T (p.Asp422Val) c.3479A>T (p.Asp1160Val) c.3134A>T (p.Asp1045Val) c.1868A>T (p.Asp623Val) n.3251A>T | |
| 10 | g.104162010T>C | CA378091871 | CFAP43 | c.3365A>G (p.Asp1122Gly) c.1447A>G c.3368A>G (p.Asp1123Gly) c.3482A>G (p.Asp1161Gly) c.2711A>G (p.Asp904Gly) c.1265A>G (p.Asp422Gly) c.3479A>G (p.Asp1160Gly) c.3134A>G (p.Asp1045Gly) c.1868A>G (p.Asp623Gly) n.3251A>G | gnomAD v4 COSMIC |
| 10 | g.104162010T>G | CA378091873 | CFAP43 | c.3365A>C (p.Asp1122Ala) c.1447A>C c.3368A>C (p.Asp1123Ala) c.3482A>C (p.Asp1161Ala) c.2711A>C (p.Asp904Ala) c.1265A>C (p.Asp422Ala) c.3479A>C (p.Asp1160Ala) c.3134A>C (p.Asp1045Ala) c.1868A>C (p.Asp623Ala) n.3251A>C | |
| 10 | g.104162011C>A | CA378091876 | CFAP43 | c.3364G>T (p.Asp1122Tyr) c.1446G>T c.3367G>T (p.Asp1123Tyr) c.3481G>T (p.Asp1161Tyr) c.2710G>T (p.Asp904Tyr) c.1264G>T (p.Asp422Tyr) c.3478G>T (p.Asp1160Tyr) c.3133G>T (p.Asp1045Tyr) c.1867G>T (p.Asp623Tyr) n.3250G>T | |
| 10 | g.104162011C>G | CA378091878 | CFAP43 | c.3364G>C (p.Asp1122His) c.1446G>C c.3367G>C (p.Asp1123His) c.3481G>C (p.Asp1161His) c.2710G>C (p.Asp904His) c.1264G>C (p.Asp422His) c.3478G>C (p.Asp1160His) c.3133G>C (p.Asp1045His) c.1867G>C (p.Asp623His) n.3250G>C | |
| 10 | g.104162011C>T | CA378091880 | CFAP43 | c.3364G>A (p.Asp1122Asn) c.1446G>A c.3367G>A (p.Asp1123Asn) c.3481G>A (p.Asp1161Asn) c.2710G>A (p.Asp904Asn) c.1264G>A (p.Asp422Asn) c.3478G>A (p.Asp1160Asn) c.3133G>A (p.Asp1045Asn) c.1867G>A (p.Asp623Asn) n.3250G>A | |
| 10 | g.104162011_104162012insGACAT | CA2610809180 | CFAP43 | c.3363_3364insATGTC (p.Asp1122MetfsTer4) c.1445_1446insATGTC c.3366_3367insATGTC (p.Asp1123MetfsTer4) c.3480_3481insATGTC (p.Asp1161MetfsTer4) c.2709_2710insATGTC (p.Asp904MetfsTer4) c.1263_1264insATGTC (p.Asp422MetfsTer4) c.3477_3478insATGTC (p.Asp1160MetfsTer4) c.3132_3133insATGTC (p.Asp1045MetfsTer4) c.1866_1867insATGTC (p.Asp623MetfsTer4) n.3249_3250insATGTC | gnomAD v4 |
| 10 | g.104162012C>A | CA378091883 | CFAP43 | c.3363G>T (p.Met1121Ile) c.1445G>T c.3366G>T (p.Met1122Ile) c.3480G>T (p.Met1160Ile) c.2709G>T (p.Met903Ile) c.1263G>T (p.Met421Ile) c.3477G>T (p.Met1159Ile) c.3132G>T (p.Met1044Ile) c.1866G>T (p.Met622Ile) n.3249G>T | |
| 10 | g.104162012C= | CA1933459892 | CFAP43 | c.3363G= (p.Met1121=) c.1445G= c.3366G= (p.Met1122=) c.3480G= (p.Met1160=) c.2709G= (p.Met903=) c.1263G= (p.Met421=) c.3477G= (p.Met1159=) c.3132G= (p.Met1044=) c.1866G= (p.Met622=) n.3249G= | |
| 10 | g.104162012C>G | CA5680319 | CFAP43 | c.3363G>C (p.Met1121Ile) c.1445G>C c.3366G>C (p.Met1122Ile) c.3480G>C (p.Met1160Ile) c.2709G>C (p.Met903Ile) c.1263G>C (p.Met421Ile) c.3477G>C (p.Met1159Ile) c.3132G>C (p.Met1044Ile) c.1866G>C (p.Met622Ile) n.3249G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104162012C>T | CA378091885 | CFAP43 | c.3363G>A (p.Met1121Ile) c.1445G>A c.3366G>A (p.Met1122Ile) c.3480G>A (p.Met1160Ile) c.2709G>A (p.Met903Ile) c.1263G>A (p.Met421Ile) c.3477G>A (p.Met1159Ile) c.3132G>A (p.Met1044Ile) c.1866G>A (p.Met622Ile) n.3249G>A | |
| 10 | g.104162013A= | CA1933459895 | CFAP43 | c.3362T= (p.Met1121=) c.1444T= c.3365T= (p.Met1122=) c.3479T= (p.Met1160=) c.2708T= (p.Met903=) c.1262T= (p.Met421=) c.3476T= (p.Met1159=) c.3131T= (p.Met1044=) c.1865T= (p.Met622=) n.3248T= | |
| 10 | g.104162013A>C | CA378091888 | CFAP43 | c.3362T>G (p.Met1121Arg) c.1444T>G c.3365T>G (p.Met1122Arg) c.3479T>G (p.Met1160Arg) c.2708T>G (p.Met903Arg) c.1262T>G (p.Met421Arg) c.3476T>G (p.Met1159Arg) c.3131T>G (p.Met1044Arg) c.1865T>G (p.Met622Arg) n.3248T>G | |
| 10 | g.104162013A>G | CA212453394 | CFAP43 | c.3362T>C (p.Met1121Thr) c.1444T>C c.3365T>C (p.Met1122Thr) c.3479T>C (p.Met1160Thr) c.2708T>C (p.Met903Thr) c.1262T>C (p.Met421Thr) c.3476T>C (p.Met1159Thr) c.3131T>C (p.Met1044Thr) c.1865T>C (p.Met622Thr) n.3248T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104162013A>T | CA378091890 | CFAP43 | c.3362T>A (p.Met1121Lys) c.1444T>A c.3365T>A (p.Met1122Lys) c.3479T>A (p.Met1160Lys) c.2708T>A (p.Met903Lys) c.1262T>A (p.Met421Lys) c.3476T>A (p.Met1159Lys) c.3131T>A (p.Met1044Lys) c.1865T>A (p.Met622Lys) n.3248T>A | |
| 10 | g.104162014T>A | CA5680320 | CFAP43 | c.3361A>T (p.Met1121Leu) c.1443A>T c.3364A>T (p.Met1122Leu) c.3478A>T (p.Met1160Leu) c.2707A>T (p.Met903Leu) c.1261A>T (p.Met421Leu) c.3475A>T (p.Met1159Leu) c.3130A>T (p.Met1044Leu) c.1864A>T (p.Met622Leu) n.3247A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104162014T>C | CA378091893 | CFAP43 | c.3361A>G (p.Met1121Val) c.1443A>G c.3364A>G (p.Met1122Val) c.3478A>G (p.Met1160Val) c.2707A>G (p.Met903Val) c.1261A>G (p.Met421Val) c.3475A>G (p.Met1159Val) c.3130A>G (p.Met1044Val) c.1864A>G (p.Met622Val) n.3247A>G | |
| 10 | g.104162014T>G | CA378091895 | CFAP43 | c.3361A>C (p.Met1121Leu) c.1443A>C c.3364A>C (p.Met1122Leu) c.3478A>C (p.Met1160Leu) c.2707A>C (p.Met903Leu) c.1261A>C (p.Met421Leu) c.3475A>C (p.Met1159Leu) c.3130A>C (p.Met1044Leu) c.1864A>C (p.Met622Leu) n.3247A>C | |
| 10 | g.104162014T= | CA1933459899 | CFAP43 | c.3361A= (p.Met1121=) c.1443A= c.3364A= (p.Met1122=) c.3478A= (p.Met1160=) c.2707A= (p.Met903=) c.1261A= (p.Met421=) c.3475A= (p.Met1159=) c.3130A= (p.Met1044=) c.1864A= (p.Met622=) n.3247A= |