Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.101726578_101726590dup | CA919345761 | FGF14 | c.622+32_622+44dup (n.622+32_622+44dup) c.505+32_505+44dup (n.505+32_505+44dup) c.*211+32_*211+44dup (n.*211+32_*211+44dup) c.*426+32_*426+44dup (n.*426+32_*426+44dup) c.*521+32_*521+44dup (n.*521+32_*521+44dup) c.355+32_355+44dup (n.355+32_355+44dup) c.607+32_607+44dup (n.607+32_607+44dup) c.427+32_427+44dup (n.427+32_427+44dup) c.418+32_418+44dup (n.418+32_418+44dup) c.511+32_511+44dup (n.511+32_511+44dup) c.421+32_421+44dup (n.421+32_421+44dup) c.466+32_466+44dup (n.466+32_466+44dup) | dbSNP gnomAD v4 |
13 | g.101726590A= | CA2114682654 | FGF14 | c.622+22T= (n.622+22T=) c.505+22T= (n.505+22T=) c.*211+22T= (n.*211+22T=) c.*426+22T= (n.*426+22T=) c.*521+22T= (n.*521+22T=) c.355+22T= (n.355+22T=) c.607+22T= (n.607+22T=) c.427+22T= (n.427+22T=) c.418+22T= (n.418+22T=) c.511+22T= (n.511+22T=) c.421+22T= (n.421+22T=) c.466+22T= (n.466+22T=) | |
13 | g.101726590A>G | CA7037128 | FGF14 | c.622+22T>C (n.622+22T>C) c.505+22T>C (n.505+22T>C) c.*211+22T>C (n.*211+22T>C) c.*426+22T>C (n.*426+22T>C) c.*521+22T>C (n.*521+22T>C) c.355+22T>C (n.355+22T>C) c.607+22T>C (n.607+22T>C) c.427+22T>C (n.427+22T>C) c.418+22T>C (n.418+22T>C) c.511+22T>C (n.511+22T>C) c.421+22T>C (n.421+22T>C) c.466+22T>C (n.466+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726591_101726595delinsTAATG | CA2114682656 | FGF14 | c.622+17_622+21delinsCATTA (n.622+17_622+21delinsCATTA) c.505+17_505+21delinsCATTA (n.505+17_505+21delinsCATTA) c.*211+17_*211+21delinsCATTA (n.*211+17_*211+21delinsCATTA) c.*426+17_*426+21delinsCATTA (n.*426+17_*426+21delinsCATTA) c.*521+17_*521+21delinsCATTA (n.*521+17_*521+21delinsCATTA) c.355+17_355+21delinsCATTA (n.355+17_355+21delinsCATTA) c.607+17_607+21delinsCATTA (n.607+17_607+21delinsCATTA) c.427+17_427+21delinsCATTA (n.427+17_427+21delinsCATTA) c.418+17_418+21delinsCATTA (n.418+17_418+21delinsCATTA) c.511+17_511+21delinsCATTA (n.511+17_511+21delinsCATTA) c.421+17_421+21delinsCATTA (n.421+17_421+21delinsCATTA) c.466+17_466+21delinsCATTA (n.466+17_466+21delinsCATTA) | |
13 | g.101726592_101726595del | CA2114682657 | FGF14 | c.622+17_622+20del (n.622+17_622+20del) c.505+17_505+20del (n.505+17_505+20del) c.*211+17_*211+20del (n.*211+17_*211+20del) c.*426+17_*426+20del (n.*426+17_*426+20del) c.*521+17_*521+20del (n.*521+17_*521+20del) c.355+17_355+20del (n.355+17_355+20del) c.607+17_607+20del (n.607+17_607+20del) c.427+17_427+20del (n.427+17_427+20del) c.418+17_418+20del (n.418+17_418+20del) c.511+17_511+20del (n.511+17_511+20del) c.421+17_421+20del (n.421+17_421+20del) c.466+17_466+20del (n.466+17_466+20del) | dbSNP |
13 | g.101726593A= | CA2114682660 | FGF14 | c.622+19T= (n.622+19T=) c.505+19T= (n.505+19T=) c.*211+19T= (n.*211+19T=) c.*426+19T= (n.*426+19T=) c.*521+19T= (n.*521+19T=) c.355+19T= (n.355+19T=) c.607+19T= (n.607+19T=) c.427+19T= (n.427+19T=) c.418+19T= (n.418+19T=) c.511+19T= (n.511+19T=) c.421+19T= (n.421+19T=) c.466+19T= (n.466+19T=) | |
13 | g.101726593A>G | CA7037129 | FGF14 | c.622+19T>C (n.622+19T>C) c.505+19T>C (n.505+19T>C) c.*211+19T>C (n.*211+19T>C) c.*426+19T>C (n.*426+19T>C) c.*521+19T>C (n.*521+19T>C) c.355+19T>C (n.355+19T>C) c.607+19T>C (n.607+19T>C) c.427+19T>C (n.427+19T>C) c.418+19T>C (n.418+19T>C) c.511+19T>C (n.511+19T>C) c.421+19T>C (n.421+19T>C) c.466+19T>C (n.466+19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726594T>C | CA612359425 | FGF14 | c.622+18A>G (n.622+18A>G) c.505+18A>G (n.505+18A>G) c.*211+18A>G (n.*211+18A>G) c.*426+18A>G (n.*426+18A>G) c.*521+18A>G (n.*521+18A>G) c.355+18A>G (n.355+18A>G) c.607+18A>G (n.607+18A>G) c.427+18A>G (n.427+18A>G) c.418+18A>G (n.418+18A>G) c.511+18A>G (n.511+18A>G) c.421+18A>G (n.421+18A>G) c.466+18A>G (n.466+18A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726594T= | CA2114682661 | FGF14 | c.622+18A= (n.622+18A=) c.505+18A= (n.505+18A=) c.*211+18A= (n.*211+18A=) c.*426+18A= (n.*426+18A=) c.*521+18A= (n.*521+18A=) c.355+18A= (n.355+18A=) c.607+18A= (n.607+18A=) c.427+18A= (n.427+18A=) c.418+18A= (n.418+18A=) c.511+18A= (n.511+18A=) c.421+18A= (n.421+18A=) c.466+18A= (n.466+18A=) | |
13 | g.101726595G>A | CA2623591689 | FGF14 | c.622+17C>T (n.622+17C>T) c.505+17C>T (n.505+17C>T) c.*211+17C>T (n.*211+17C>T) c.*426+17C>T (n.*426+17C>T) c.*521+17C>T (n.*521+17C>T) c.355+17C>T (n.355+17C>T) c.607+17C>T (n.607+17C>T) c.427+17C>T (n.427+17C>T) c.418+17C>T (n.418+17C>T) c.511+17C>T (n.511+17C>T) c.421+17C>T (n.421+17C>T) c.466+17C>T (n.466+17C>T) | gnomAD v4 |
13 | g.101726596C>A | CA7037130 | FGF14 | c.622+16G>T (n.622+16G>T) c.505+16G>T (n.505+16G>T) c.*211+16G>T (n.*211+16G>T) c.*426+16G>T (n.*426+16G>T) c.*521+16G>T (n.*521+16G>T) c.355+16G>T (n.355+16G>T) c.607+16G>T (n.607+16G>T) c.427+16G>T (n.427+16G>T) c.418+16G>T (n.418+16G>T) c.511+16G>T (n.511+16G>T) c.421+16G>T (n.421+16G>T) c.466+16G>T (n.466+16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726596C= | CA2114682662 | FGF14 | c.622+16G= (n.622+16G=) c.505+16G= (n.505+16G=) c.*211+16G= (n.*211+16G=) c.*426+16G= (n.*426+16G=) c.*521+16G= (n.*521+16G=) c.355+16G= (n.355+16G=) c.607+16G= (n.607+16G=) c.427+16G= (n.427+16G=) c.418+16G= (n.418+16G=) c.511+16G= (n.511+16G=) c.421+16G= (n.421+16G=) c.466+16G= (n.466+16G=) | |
13 | g.101726596C>T | CA2728912642 | FGF14 | c.622+16G>A (n.622+16G>A) c.505+16G>A (n.505+16G>A) c.*211+16G>A (n.*211+16G>A) c.*426+16G>A (n.*426+16G>A) c.*521+16G>A (n.*521+16G>A) c.355+16G>A (n.355+16G>A) c.607+16G>A (n.607+16G>A) c.427+16G>A (n.427+16G>A) c.418+16G>A (n.418+16G>A) c.511+16G>A (n.511+16G>A) c.421+16G>A (n.421+16G>A) c.466+16G>A (n.466+16G>A) | dbSNP |
13 | g.101726597A>G | CA2575449112 | FGF14 | c.622+15T>C (n.622+15T>C) c.505+15T>C (n.505+15T>C) c.*211+15T>C (n.*211+15T>C) c.*426+15T>C (n.*426+15T>C) c.*521+15T>C (n.*521+15T>C) c.355+15T>C (n.355+15T>C) c.607+15T>C (n.607+15T>C) c.427+15T>C (n.427+15T>C) c.418+15T>C (n.418+15T>C) c.511+15T>C (n.511+15T>C) c.421+15T>C (n.421+15T>C) c.466+15T>C (n.466+15T>C) | gnomAD v4 |
13 | g.101726598T>C | CA612359426 | FGF14 | c.622+14A>G (n.622+14A>G) c.505+14A>G (n.505+14A>G) c.*211+14A>G (n.*211+14A>G) c.*426+14A>G (n.*426+14A>G) c.*521+14A>G (n.*521+14A>G) c.355+14A>G (n.355+14A>G) c.607+14A>G (n.607+14A>G) c.427+14A>G (n.427+14A>G) c.418+14A>G (n.418+14A>G) c.511+14A>G (n.511+14A>G) c.421+14A>G (n.421+14A>G) c.466+14A>G (n.466+14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726598T= | CA2114682666 | FGF14 | c.622+14A= (n.622+14A=) c.505+14A= (n.505+14A=) c.*211+14A= (n.*211+14A=) c.*426+14A= (n.*426+14A=) c.*521+14A= (n.*521+14A=) c.355+14A= (n.355+14A=) c.607+14A= (n.607+14A=) c.427+14A= (n.427+14A=) c.418+14A= (n.418+14A=) c.511+14A= (n.511+14A=) c.421+14A= (n.421+14A=) c.466+14A= (n.466+14A=) | |
13 | g.101726599G>A | CA612359427 | FGF14 | c.622+13C>T (n.622+13C>T) c.505+13C>T (n.505+13C>T) c.*211+13C>T (n.*211+13C>T) c.*426+13C>T (n.*426+13C>T) c.*521+13C>T (n.*521+13C>T) c.355+13C>T (n.355+13C>T) c.607+13C>T (n.607+13C>T) c.427+13C>T (n.427+13C>T) c.418+13C>T (n.418+13C>T) c.511+13C>T (n.511+13C>T) c.421+13C>T (n.421+13C>T) c.466+13C>T (n.466+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.101726599G= | CA2114682667 | FGF14 | c.622+13C= (n.622+13C=) c.505+13C= (n.505+13C=) c.*211+13C= (n.*211+13C=) c.*426+13C= (n.*426+13C=) c.*521+13C= (n.*521+13C=) c.355+13C= (n.355+13C=) c.607+13C= (n.607+13C=) c.427+13C= (n.427+13C=) c.418+13C= (n.418+13C=) c.511+13C= (n.511+13C=) c.421+13C= (n.421+13C=) c.466+13C= (n.466+13C=) | |
13 | g.101726600C= | CA2114682668 | FGF14 | c.622+12G= (n.622+12G=) c.505+12G= (n.505+12G=) c.*211+12G= (n.*211+12G=) c.*426+12G= (n.*426+12G=) c.*521+12G= (n.*521+12G=) c.355+12G= (n.355+12G=) c.607+12G= (n.607+12G=) c.427+12G= (n.427+12G=) c.418+12G= (n.418+12G=) c.511+12G= (n.511+12G=) c.421+12G= (n.421+12G=) c.466+12G= (n.466+12G=) | |
13 | g.101726600C>G | CA2623591690 | FGF14 | c.622+12G>C (n.622+12G>C) c.505+12G>C (n.505+12G>C) c.*211+12G>C (n.*211+12G>C) c.*426+12G>C (n.*426+12G>C) c.*521+12G>C (n.*521+12G>C) c.355+12G>C (n.355+12G>C) c.607+12G>C (n.607+12G>C) c.427+12G>C (n.427+12G>C) c.418+12G>C (n.418+12G>C) c.511+12G>C (n.511+12G>C) c.421+12G>C (n.421+12G>C) c.466+12G>C (n.466+12G>C) | gnomAD v4 |
13 | g.101726600C>T | CA7037132 | FGF14 | c.622+12G>A (n.622+12G>A) c.505+12G>A (n.505+12G>A) c.*211+12G>A (n.*211+12G>A) c.*426+12G>A (n.*426+12G>A) c.*521+12G>A (n.*521+12G>A) c.355+12G>A (n.355+12G>A) c.607+12G>A (n.607+12G>A) c.427+12G>A (n.427+12G>A) c.418+12G>A (n.418+12G>A) c.511+12G>A (n.511+12G>A) c.421+12G>A (n.421+12G>A) c.466+12G>A (n.466+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726601_101726612dup | CA7037131 | FGF14 | c.622+1_622+12dup c.505+1_505+12dup c.*211+1_*211+12dup c.*426+1_*426+12dup c.*521+1_*521+12dup c.355+1_355+12dup c.607+1_607+12dup c.427+1_427+12dup c.418+1_418+12dup c.511+1_511+12dup c.421+1_421+12dup c.466+1_466+12dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726601A= | CA2114682670 | FGF14 | c.622+11T= (n.622+11T=) c.505+11T= (n.505+11T=) c.*211+11T= (n.*211+11T=) c.*426+11T= (n.*426+11T=) c.*521+11T= (n.*521+11T=) c.355+11T= (n.355+11T=) c.607+11T= (n.607+11T=) c.427+11T= (n.427+11T=) c.418+11T= (n.418+11T=) c.511+11T= (n.511+11T=) c.421+11T= (n.421+11T=) c.466+11T= (n.466+11T=) | |
13 | g.101726601A>G | CA7037133 | FGF14 | c.622+11T>C (n.622+11T>C) c.505+11T>C (n.505+11T>C) c.*211+11T>C (n.*211+11T>C) c.*426+11T>C (n.*426+11T>C) c.*521+11T>C (n.*521+11T>C) c.355+11T>C (n.355+11T>C) c.607+11T>C (n.607+11T>C) c.427+11T>C (n.427+11T>C) c.418+11T>C (n.418+11T>C) c.511+11T>C (n.511+11T>C) c.421+11T>C (n.421+11T>C) c.466+11T>C (n.466+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726602T>A | CA2511053791 | FGF14 | c.622+10A>T (n.622+10A>T) c.505+10A>T (n.505+10A>T) c.*211+10A>T (n.*211+10A>T) c.*426+10A>T (n.*426+10A>T) c.*521+10A>T (n.*521+10A>T) c.355+10A>T (n.355+10A>T) c.607+10A>T (n.607+10A>T) c.427+10A>T (n.427+10A>T) c.418+10A>T (n.418+10A>T) c.511+10A>T (n.511+10A>T) c.421+10A>T (n.421+10A>T) c.466+10A>T (n.466+10A>T) | |
13 | g.101726605_101726606del | CA2575449113 | FGF14 | c.622+7_622+8del (n.622+7_622+8del) c.505+7_505+8del (n.505+7_505+8del) c.*211+7_*211+8del (n.*211+7_*211+8del) c.*426+7_*426+8del (n.*426+7_*426+8del) c.*521+7_*521+8del (n.*521+7_*521+8del) c.355+7_355+8del (n.355+7_355+8del) c.607+7_607+8del (n.607+7_607+8del) c.427+7_427+8del (n.427+7_427+8del) c.418+7_418+8del (n.418+7_418+8del) c.511+7_511+8del (n.511+7_511+8del) c.421+7_421+8del (n.421+7_421+8del) c.466+7_466+8del (n.466+7_466+8del) | gnomAD v4 |
13 | g.101726608_101726611del | CA2623591691 | FGF14 | c.622+3_622+6del (n.622+3_622+6del) c.505+3_505+6del (n.505+3_505+6del) c.*211+3_*211+6del (n.*211+3_*211+6del) c.*426+3_*426+6del (n.*426+3_*426+6del) c.*521+3_*521+6del (n.*521+3_*521+6del) c.355+3_355+6del (n.355+3_355+6del) c.607+3_607+6del (n.607+3_607+6del) c.427+3_427+6del (n.427+3_427+6del) c.418+3_418+6del (n.418+3_418+6del) c.511+3_511+6del (n.511+3_511+6del) c.421+3_421+6del (n.421+3_421+6del) c.466+3_466+6del (n.466+3_466+6del) | gnomAD v4 |
13 | g.101726607C>T | CA2623591692 | FGF14 | c.622+5G>A (n.622+5G>A) c.505+5G>A (n.505+5G>A) c.*211+5G>A (n.*211+5G>A) c.*426+5G>A (n.*426+5G>A) c.*521+5G>A (n.*521+5G>A) c.355+5G>A (n.355+5G>A) c.607+5G>A (n.607+5G>A) c.427+5G>A (n.427+5G>A) c.418+5G>A (n.418+5G>A) c.511+5G>A (n.511+5G>A) c.421+5G>A (n.421+5G>A) c.466+5G>A (n.466+5G>A) | gnomAD v4 |
13 | g.101726609C>T | CA484767540 | FGF14 | c.622+3G>A (n.622+3G>A) c.505+3G>A (n.505+3G>A) c.*211+3G>A (n.*211+3G>A) c.*426+3G>A (n.*426+3G>A) c.*521+3G>A (n.*521+3G>A) c.355+3G>A (n.355+3G>A) c.607+3G>A (n.607+3G>A) c.427+3G>A (n.427+3G>A) c.418+3G>A (n.418+3G>A) c.511+3G>A (n.511+3G>A) c.421+3G>A (n.421+3G>A) c.466+3G>A (n.466+3G>A) | dbSNP |
13 | g.101726610_101726611del | CA2740130144 | FGF14 | c.622+2_622+3del (n.622+2_622+3del) c.505+2_505+3del (n.505+2_505+3del) c.*211+2_*211+3del (n.*211+2_*211+3del) c.*426+2_*426+3del (n.*426+2_*426+3del) c.*521+2_*521+3del (n.*521+2_*521+3del) c.355+2_355+3del (n.355+2_355+3del) c.607+2_607+3del (n.607+2_607+3del) c.427+2_427+3del (n.427+2_427+3del) c.418+2_418+3del (n.418+2_418+3del) c.511+2_511+3del (n.511+2_511+3del) c.421+2_421+3del (n.421+2_421+3del) c.466+2_466+3del (n.466+2_466+3del) | |
13 | g.101726610A>C | CA388710965 | FGF14 | c.622+2T>G (n.622+2T>G) c.505+2T>G (n.505+2T>G) c.*211+2T>G (n.*211+2T>G) c.*426+2T>G (n.*426+2T>G) c.*521+2T>G (n.*521+2T>G) c.355+2T>G (n.355+2T>G) c.607+2T>G (n.607+2T>G) c.427+2T>G (n.427+2T>G) c.418+2T>G (n.418+2T>G) c.511+2T>G (n.511+2T>G) c.421+2T>G (n.421+2T>G) c.466+2T>G (n.466+2T>G) | |
13 | g.101726610A>G | CA388710966 | FGF14 | c.622+2T>C (n.622+2T>C) c.505+2T>C (n.505+2T>C) c.*211+2T>C (n.*211+2T>C) c.*426+2T>C (n.*426+2T>C) c.*521+2T>C (n.*521+2T>C) c.355+2T>C (n.355+2T>C) c.607+2T>C (n.607+2T>C) c.427+2T>C (n.427+2T>C) c.418+2T>C (n.418+2T>C) c.511+2T>C (n.511+2T>C) c.421+2T>C (n.421+2T>C) c.466+2T>C (n.466+2T>C) | |
13 | g.101726610A>T | CA388710967 | FGF14 | c.622+2T>A (n.622+2T>A) c.505+2T>A (n.505+2T>A) c.*211+2T>A (n.*211+2T>A) c.*426+2T>A (n.*426+2T>A) c.*521+2T>A (n.*521+2T>A) c.355+2T>A (n.355+2T>A) c.607+2T>A (n.607+2T>A) c.427+2T>A (n.427+2T>A) c.418+2T>A (n.418+2T>A) c.511+2T>A (n.511+2T>A) c.421+2T>A (n.421+2T>A) c.466+2T>A (n.466+2T>A) | |
13 | g.101726611C>A | CA388710968 | FGF14 | c.622+1G>T (n.622+1G>T) c.505+1G>T (n.505+1G>T) c.*211+1G>T (n.*211+1G>T) c.*426+1G>T (n.*426+1G>T) c.*521+1G>T (n.*521+1G>T) c.355+1G>T (n.355+1G>T) c.607+1G>T (n.607+1G>T) c.427+1G>T (n.427+1G>T) c.418+1G>T (n.418+1G>T) c.511+1G>T (n.511+1G>T) c.421+1G>T (n.421+1G>T) c.466+1G>T (n.466+1G>T) | |
13 | g.101726611C>G | CA388710969 | FGF14 | c.622+1G>C (n.622+1G>C) c.505+1G>C (n.505+1G>C) c.*211+1G>C (n.*211+1G>C) c.*426+1G>C (n.*426+1G>C) c.*521+1G>C (n.*521+1G>C) c.355+1G>C (n.355+1G>C) c.607+1G>C (n.607+1G>C) c.427+1G>C (n.427+1G>C) c.418+1G>C (n.418+1G>C) c.511+1G>C (n.511+1G>C) c.421+1G>C (n.421+1G>C) c.466+1G>C (n.466+1G>C) | |
13 | g.101726611C>T | CA388710970 | FGF14 | c.622+1G>A (n.622+1G>A) c.505+1G>A (n.505+1G>A) c.*211+1G>A (n.*211+1G>A) c.*426+1G>A (n.*426+1G>A) c.*521+1G>A (n.*521+1G>A) c.355+1G>A (n.355+1G>A) c.607+1G>A (n.607+1G>A) c.427+1G>A (n.427+1G>A) c.418+1G>A (n.418+1G>A) c.511+1G>A (n.511+1G>A) c.421+1G>A (n.421+1G>A) c.466+1G>A (n.466+1G>A) | |
13 | g.101726612C>A | CA388710971 | FGF14 | c.622G>T (p.Val208Phe) c.505G>T (p.Val169Phe) c.*211G>T (n.*211G>T) c.*426G>T (n.*426G>T) c.*521G>T (n.*521G>T) c.355G>T (p.Val119Phe) c.607G>T (p.Val203Phe) c.427G>T (p.Val143Phe) c.418G>T (p.Val140Phe) c.511G>T (p.Val171Phe) c.421G>T (p.Val141Phe) c.466G>T (p.Val156Phe) | gnomAD v4 |
13 | g.101726612C>G | CA388710972 | FGF14 | c.622G>C (p.Val208Leu) c.505G>C (p.Val169Leu) c.*211G>C (n.*211G>C) c.*426G>C (n.*426G>C) c.*521G>C (n.*521G>C) c.355G>C (p.Val119Leu) c.607G>C (p.Val203Leu) c.427G>C (p.Val143Leu) c.418G>C (p.Val140Leu) c.511G>C (p.Val171Leu) c.421G>C (p.Val141Leu) c.466G>C (p.Val156Leu) | |
13 | g.101726612C>T | CA388710973 | FGF14 | c.622G>A (p.Val208Ile) c.505G>A (p.Val169Ile) c.*211G>A (n.*211G>A) c.*426G>A (n.*426G>A) c.*521G>A (n.*521G>A) c.355G>A (p.Val119Ile) c.607G>A (p.Val203Ile) c.427G>A (p.Val143Ile) c.418G>A (p.Val140Ile) c.511G>A (p.Val171Ile) c.421G>A (p.Val141Ile) c.466G>A (p.Val156Ile) | dbSNP COSMIC COSMIC |
13 | g.101726613T>A | CA388710975 | FGF14 | c.621A>T (p.Glu207Asp) c.504A>T (p.Glu168Asp) c.*210A>T (n.*210A>T) c.*425A>T (n.*425A>T) c.*520A>T (n.*520A>T) c.354A>T (p.Glu118Asp) c.606A>T (p.Glu202Asp) c.426A>T (p.Glu142Asp) c.417A>T (p.Glu139Asp) c.510A>T (p.Glu170Asp) c.420A>T (p.Glu140Asp) c.465A>T (p.Glu155Asp) | |
13 | g.101726613T>C | CA484767541 | FGF14 | c.621A>G (p.Glu207=) c.504A>G (p.Glu168=) c.*210A>G (n.*210A>G) c.*425A>G (n.*425A>G) c.*520A>G (n.*520A>G) c.354A>G (p.Glu118=) c.606A>G (p.Glu202=) c.426A>G (p.Glu142=) c.417A>G (p.Glu139=) c.510A>G (p.Glu170=) c.420A>G (p.Glu140=) c.465A>G (p.Glu155=) | |
13 | g.101726613T>G | CA388710974 | FGF14 | c.621A>C (p.Glu207Asp) c.504A>C (p.Glu168Asp) c.*210A>C (n.*210A>C) c.*425A>C (n.*425A>C) c.*520A>C (n.*520A>C) c.354A>C (p.Glu118Asp) c.606A>C (p.Glu202Asp) c.426A>C (p.Glu142Asp) c.417A>C (p.Glu139Asp) c.510A>C (p.Glu170Asp) c.420A>C (p.Glu140Asp) c.465A>C (p.Glu155Asp) | |
13 | g.101726614T>A | CA388710976 | FGF14 | c.620A>T (p.Glu207Val) c.503A>T (p.Glu168Val) c.*209A>T (n.*209A>T) c.*424A>T (n.*424A>T) c.*519A>T (n.*519A>T) c.353A>T (p.Glu118Val) c.605A>T (p.Glu202Val) c.425A>T (p.Glu142Val) c.416A>T (p.Glu139Val) c.509A>T (p.Glu170Val) c.419A>T (p.Glu140Val) c.464A>T (p.Glu155Val) | |
13 | g.101726614T>C | CA388710978 | FGF14 | c.620A>G (p.Glu207Gly) c.503A>G (p.Glu168Gly) c.*209A>G (n.*209A>G) c.*424A>G (n.*424A>G) c.*519A>G (n.*519A>G) c.353A>G (p.Glu118Gly) c.605A>G (p.Glu202Gly) c.425A>G (p.Glu142Gly) c.416A>G (p.Glu139Gly) c.509A>G (p.Glu170Gly) c.419A>G (p.Glu140Gly) c.464A>G (p.Glu155Gly) | |
13 | g.101726614T>G | CA388710977 | FGF14 | c.620A>C (p.Glu207Ala) c.503A>C (p.Glu168Ala) c.*209A>C (n.*209A>C) c.*424A>C (n.*424A>C) c.*519A>C (n.*519A>C) c.353A>C (p.Glu118Ala) c.605A>C (p.Glu202Ala) c.425A>C (p.Glu142Ala) c.416A>C (p.Glu139Ala) c.509A>C (p.Glu170Ala) c.419A>C (p.Glu140Ala) c.464A>C (p.Glu155Ala) | |
13 | g.101726615C>A | CA388710979 | FGF14 | c.619G>T (p.Glu207Ter) c.502G>T (p.Glu168Ter) c.*208G>T (n.*208G>T) c.*423G>T (n.*423G>T) c.*518G>T (n.*518G>T) c.352G>T (p.Glu118Ter) c.604G>T (p.Glu202Ter) c.424G>T (p.Glu142Ter) c.415G>T (p.Glu139Ter) c.508G>T (p.Glu170Ter) c.418G>T (p.Glu140Ter) c.463G>T (p.Glu155Ter) | |
13 | g.101726615C>G | CA388710981 | FGF14 | c.619G>C (p.Glu207Gln) c.502G>C (p.Glu168Gln) c.*208G>C (n.*208G>C) c.*423G>C (n.*423G>C) c.*518G>C (n.*518G>C) c.352G>C (p.Glu118Gln) c.604G>C (p.Glu202Gln) c.424G>C (p.Glu142Gln) c.415G>C (p.Glu139Gln) c.508G>C (p.Glu170Gln) c.418G>C (p.Glu140Gln) c.463G>C (p.Glu155Gln) | |
13 | g.101726615C>T | CA388710980 | FGF14 | c.619G>A (p.Glu207Lys) c.502G>A (p.Glu168Lys) c.*208G>A (n.*208G>A) c.*423G>A (n.*423G>A) c.*518G>A (n.*518G>A) c.352G>A (p.Glu118Lys) c.604G>A (p.Glu202Lys) c.424G>A (p.Glu142Lys) c.415G>A (p.Glu139Lys) c.508G>A (p.Glu170Lys) c.418G>A (p.Glu140Lys) c.463G>A (p.Glu155Lys) | COSMIC COSMIC |
13 | g.101726616C>A | CA388710982 | FGF14 | c.618G>T (p.Leu206Phe) c.501G>T (p.Leu167Phe) c.*207G>T (n.*207G>T) c.*422G>T (n.*422G>T) c.*517G>T (n.*517G>T) c.351G>T (p.Leu117Phe) c.603G>T (p.Leu201Phe) c.423G>T (p.Leu141Phe) c.414G>T (p.Leu138Phe) c.507G>T (p.Leu169Phe) c.417G>T (p.Leu139Phe) c.462G>T (p.Leu154Phe) | |
13 | g.101726616C>G | CA388710983 | FGF14 | c.618G>C (p.Leu206Phe) c.501G>C (p.Leu167Phe) c.*207G>C (n.*207G>C) c.*422G>C (n.*422G>C) c.*517G>C (n.*517G>C) c.351G>C (p.Leu117Phe) c.603G>C (p.Leu201Phe) c.423G>C (p.Leu141Phe) c.414G>C (p.Leu138Phe) c.507G>C (p.Leu169Phe) c.417G>C (p.Leu139Phe) c.462G>C (p.Leu154Phe) | |
13 | g.101726616C>T | CA484767542 | FGF14 | c.618G>A (p.Leu206=) c.501G>A (p.Leu167=) c.*207G>A (n.*207G>A) c.*422G>A (n.*422G>A) c.*517G>A (n.*517G>A) c.351G>A (p.Leu117=) c.603G>A (p.Leu201=) c.423G>A (p.Leu141=) c.414G>A (p.Leu138=) c.507G>A (p.Leu169=) c.417G>A (p.Leu139=) c.462G>A (p.Leu154=) | gnomAD v4 |
13 | g.101726617A>C | CA388710984 | FGF14 | c.617T>G (p.Leu206Trp) c.500T>G (p.Leu167Trp) c.*206T>G (n.*206T>G) c.*421T>G (n.*421T>G) c.*516T>G (n.*516T>G) c.350T>G (p.Leu117Trp) c.602T>G (p.Leu201Trp) c.422T>G (p.Leu141Trp) c.413T>G (p.Leu138Trp) c.506T>G (p.Leu169Trp) c.416T>G (p.Leu139Trp) c.461T>G (p.Leu154Trp) | |
13 | g.101726617A>G | CA388710985 | FGF14 | c.617T>C (p.Leu206Ser) c.500T>C (p.Leu167Ser) c.*206T>C (n.*206T>C) c.*421T>C (n.*421T>C) c.*516T>C (n.*516T>C) c.350T>C (p.Leu117Ser) c.602T>C (p.Leu201Ser) c.422T>C (p.Leu141Ser) c.413T>C (p.Leu138Ser) c.506T>C (p.Leu169Ser) c.416T>C (p.Leu139Ser) c.461T>C (p.Leu154Ser) | |
13 | g.101726617A>T | CA388710986 | FGF14 | c.617T>A (p.Leu206Ter) c.500T>A (p.Leu167Ter) c.*206T>A (n.*206T>A) c.*421T>A (n.*421T>A) c.*516T>A (n.*516T>A) c.350T>A (p.Leu117Ter) c.602T>A (p.Leu201Ter) c.422T>A (p.Leu141Ter) c.413T>A (p.Leu138Ter) c.506T>A (p.Leu169Ter) c.416T>A (p.Leu139Ter) c.461T>A (p.Leu154Ter) | |
13 | g.101726618A= | CA2114682673 | FGF14 | c.616T= (p.Leu206=) c.499T= (p.Leu167=) c.*205T= (n.*205T=) c.*420T= (n.*420T=) c.*515T= (n.*515T=) c.349T= (p.Leu117=) c.601T= (p.Leu201=) c.421T= (p.Leu141=) c.412T= (p.Leu138=) c.505T= (p.Leu169=) c.415T= (p.Leu139=) c.460T= (p.Leu154=) | |
13 | g.101726618A>C | CA388710987 | FGF14 | c.616T>G (p.Leu206Val) c.499T>G (p.Leu167Val) c.*205T>G (n.*205T>G) c.*420T>G (n.*420T>G) c.*515T>G (n.*515T>G) c.349T>G (p.Leu117Val) c.601T>G (p.Leu201Val) c.421T>G (p.Leu141Val) c.412T>G (p.Leu138Val) c.505T>G (p.Leu169Val) c.415T>G (p.Leu139Val) c.460T>G (p.Leu154Val) | |
13 | g.101726618A>G | CA7037134 | FGF14 | c.616T>C (p.Leu206=) c.499T>C (p.Leu167=) c.*205T>C (n.*205T>C) c.*420T>C (n.*420T>C) c.*515T>C (n.*515T>C) c.349T>C (p.Leu117=) c.601T>C (p.Leu201=) c.421T>C (p.Leu141=) c.412T>C (p.Leu138=) c.505T>C (p.Leu169=) c.415T>C (p.Leu139=) c.460T>C (p.Leu154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726618A>T | CA388710988 | FGF14 | c.616T>A (p.Leu206Met) c.499T>A (p.Leu167Met) c.*205T>A (n.*205T>A) c.*420T>A (n.*420T>A) c.*515T>A (n.*515T>A) c.349T>A (p.Leu117Met) c.601T>A (p.Leu201Met) c.421T>A (p.Leu141Met) c.412T>A (p.Leu138Met) c.505T>A (p.Leu169Met) c.415T>A (p.Leu139Met) c.460T>A (p.Leu154Met) | |
13 | g.101726619T>A | CA484767543 | FGF14 | c.615A>T (p.Pro205=) c.498A>T (p.Pro166=) c.*204A>T (n.*204A>T) c.*419A>T (n.*419A>T) c.*514A>T (n.*514A>T) c.348A>T (p.Pro116=) c.600A>T (p.Pro200=) c.420A>T (p.Pro140=) c.411A>T (p.Pro137=) c.504A>T (p.Pro168=) c.414A>T (p.Pro138=) c.459A>T (p.Pro153=) | |
13 | g.101726619T>C | CA7037135 | FGF14 | c.615A>G (p.Pro205=) c.498A>G (p.Pro166=) c.*204A>G (n.*204A>G) c.*419A>G (n.*419A>G) c.*514A>G (n.*514A>G) c.348A>G (p.Pro116=) c.600A>G (p.Pro200=) c.420A>G (p.Pro140=) c.411A>G (p.Pro137=) c.504A>G (p.Pro168=) c.414A>G (p.Pro138=) c.459A>G (p.Pro153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726619T>G | CA484767544 | FGF14 | c.615A>C (p.Pro205=) c.498A>C (p.Pro166=) c.*204A>C (n.*204A>C) c.*419A>C (n.*419A>C) c.*514A>C (n.*514A>C) c.348A>C (p.Pro116=) c.600A>C (p.Pro200=) c.420A>C (p.Pro140=) c.411A>C (p.Pro137=) c.504A>C (p.Pro168=) c.414A>C (p.Pro138=) c.459A>C (p.Pro153=) | |
13 | g.101726619T= | CA2114682676 | FGF14 | c.615A= (p.Pro205=) c.498A= (p.Pro166=) c.*204A= (n.*204A=) c.*419A= (n.*419A=) c.*514A= (n.*514A=) c.348A= (p.Pro116=) c.600A= (p.Pro200=) c.420A= (p.Pro140=) c.411A= (p.Pro137=) c.504A= (p.Pro168=) c.414A= (p.Pro138=) c.459A= (p.Pro153=) | |
13 | g.101726620G>A | CA388710989 | FGF14 | c.614C>T (p.Pro205Leu) c.497C>T (p.Pro166Leu) c.*203C>T (n.*203C>T) c.*418C>T (n.*418C>T) c.*513C>T (n.*513C>T) c.347C>T (p.Pro116Leu) c.599C>T (p.Pro200Leu) c.419C>T (p.Pro140Leu) c.410C>T (p.Pro137Leu) c.503C>T (p.Pro168Leu) c.413C>T (p.Pro138Leu) c.458C>T (p.Pro153Leu) | COSMIC COSMIC |
13 | g.101726620G>C | CA388710990 | FGF14 | c.614C>G (p.Pro205Arg) c.497C>G (p.Pro166Arg) c.*203C>G (n.*203C>G) c.*418C>G (n.*418C>G) c.*513C>G (n.*513C>G) c.347C>G (p.Pro116Arg) c.599C>G (p.Pro200Arg) c.419C>G (p.Pro140Arg) c.410C>G (p.Pro137Arg) c.503C>G (p.Pro168Arg) c.413C>G (p.Pro138Arg) c.458C>G (p.Pro153Arg) | |
13 | g.101726620G>T | CA388710991 | FGF14 | c.614C>A (p.Pro205Gln) c.497C>A (p.Pro166Gln) c.*203C>A (n.*203C>A) c.*418C>A (n.*418C>A) c.*513C>A (n.*513C>A) c.347C>A (p.Pro116Gln) c.599C>A (p.Pro200Gln) c.419C>A (p.Pro140Gln) c.410C>A (p.Pro137Gln) c.503C>A (p.Pro168Gln) c.413C>A (p.Pro138Gln) c.458C>A (p.Pro153Gln) | |
13 | g.101726621G>A | CA388710992 | FGF14 | c.613C>T (p.Pro205Ser) c.496C>T (p.Pro166Ser) c.*202C>T (n.*202C>T) c.*417C>T (n.*417C>T) c.*512C>T (n.*512C>T) c.346C>T (p.Pro116Ser) c.598C>T (p.Pro200Ser) c.418C>T (p.Pro140Ser) c.409C>T (p.Pro137Ser) c.502C>T (p.Pro168Ser) c.412C>T (p.Pro138Ser) c.457C>T (p.Pro153Ser) | |
13 | g.101726621G>C | CA388710994 | FGF14 | c.613C>G (p.Pro205Ala) c.496C>G (p.Pro166Ala) c.*202C>G (n.*202C>G) c.*417C>G (n.*417C>G) c.*512C>G (n.*512C>G) c.346C>G (p.Pro116Ala) c.598C>G (p.Pro200Ala) c.418C>G (p.Pro140Ala) c.409C>G (p.Pro137Ala) c.502C>G (p.Pro168Ala) c.412C>G (p.Pro138Ala) c.457C>G (p.Pro153Ala) | |
13 | g.101726621G>T | CA388710993 | FGF14 | c.613C>A (p.Pro205Thr) c.496C>A (p.Pro166Thr) c.*202C>A (n.*202C>A) c.*417C>A (n.*417C>A) c.*512C>A (n.*512C>A) c.346C>A (p.Pro116Thr) c.598C>A (p.Pro200Thr) c.418C>A (p.Pro140Thr) c.409C>A (p.Pro137Thr) c.502C>A (p.Pro168Thr) c.412C>A (p.Pro138Thr) c.457C>A (p.Pro153Thr) | |
13 | g.101726622C>A | CA388710995 | FGF14 | c.612G>T (p.Lys204Asn) c.495G>T (p.Lys165Asn) c.*201G>T (n.*201G>T) c.*416G>T (n.*416G>T) c.*511G>T (n.*511G>T) c.345G>T (p.Lys115Asn) c.597G>T (p.Lys199Asn) c.417G>T (p.Lys139Asn) c.408G>T (p.Lys136Asn) c.501G>T (p.Lys167Asn) c.411G>T (p.Lys137Asn) c.456G>T (p.Lys152Asn) | |
13 | g.101726622C>G | CA388710996 | FGF14 | c.612G>C (p.Lys204Asn) c.495G>C (p.Lys165Asn) c.*201G>C (n.*201G>C) c.*416G>C (n.*416G>C) c.*511G>C (n.*511G>C) c.345G>C (p.Lys115Asn) c.597G>C (p.Lys199Asn) c.417G>C (p.Lys139Asn) c.408G>C (p.Lys136Asn) c.501G>C (p.Lys167Asn) c.411G>C (p.Lys137Asn) c.456G>C (p.Lys152Asn) | |
13 | g.101726622C>T | CA484767545 | FGF14 | c.612G>A (p.Lys204=) c.495G>A (p.Lys165=) c.*201G>A (n.*201G>A) c.*416G>A (n.*416G>A) c.*511G>A (n.*511G>A) c.345G>A (p.Lys115=) c.597G>A (p.Lys199=) c.417G>A (p.Lys139=) c.408G>A (p.Lys136=) c.501G>A (p.Lys167=) c.411G>A (p.Lys137=) c.456G>A (p.Lys152=) | |
13 | g.101726623T>A | CA388710997 | FGF14 | c.611A>T (p.Lys204Met) c.494A>T (p.Lys165Met) c.*200A>T (n.*200A>T) c.*415A>T (n.*415A>T) c.*510A>T (n.*510A>T) c.344A>T (p.Lys115Met) c.596A>T (p.Lys199Met) c.416A>T (p.Lys139Met) c.407A>T (p.Lys136Met) c.500A>T (p.Lys167Met) c.410A>T (p.Lys137Met) c.455A>T (p.Lys152Met) | |
13 | g.101726623T>C | CA388710998 | FGF14 | c.611A>G (p.Lys204Arg) c.494A>G (p.Lys165Arg) c.*200A>G (n.*200A>G) c.*415A>G (n.*415A>G) c.*510A>G (n.*510A>G) c.344A>G (p.Lys115Arg) c.596A>G (p.Lys199Arg) c.416A>G (p.Lys139Arg) c.407A>G (p.Lys136Arg) c.500A>G (p.Lys167Arg) c.410A>G (p.Lys137Arg) c.455A>G (p.Lys152Arg) | |
13 | g.101726623T>G | CA388710999 | FGF14 | c.611A>C (p.Lys204Thr) c.494A>C (p.Lys165Thr) c.*200A>C (n.*200A>C) c.*415A>C (n.*415A>C) c.*510A>C (n.*510A>C) c.344A>C (p.Lys115Thr) c.596A>C (p.Lys199Thr) c.416A>C (p.Lys139Thr) c.407A>C (p.Lys136Thr) c.500A>C (p.Lys167Thr) c.410A>C (p.Lys137Thr) c.455A>C (p.Lys152Thr) | gnomAD v4 |
13 | g.101726624T>A | CA388711000 | FGF14 | c.610A>T (p.Lys204Ter) c.493A>T (p.Lys165Ter) c.*199A>T (n.*199A>T) c.*414A>T (n.*414A>T) c.*509A>T (n.*509A>T) c.343A>T (p.Lys115Ter) c.595A>T (p.Lys199Ter) c.415A>T (p.Lys139Ter) c.406A>T (p.Lys136Ter) c.499A>T (p.Lys167Ter) c.409A>T (p.Lys137Ter) c.454A>T (p.Lys152Ter) | |
13 | g.101726624T>C | CA388711001 | FGF14 | c.610A>G (p.Lys204Glu) c.493A>G (p.Lys165Glu) c.*199A>G (n.*199A>G) c.*414A>G (n.*414A>G) c.*509A>G (n.*509A>G) c.343A>G (p.Lys115Glu) c.595A>G (p.Lys199Glu) c.415A>G (p.Lys139Glu) c.406A>G (p.Lys136Glu) c.499A>G (p.Lys167Glu) c.409A>G (p.Lys137Glu) c.454A>G (p.Lys152Glu) | |
13 | g.101726624T>G | CA388711002 | FGF14 | c.610A>C (p.Lys204Gln) c.493A>C (p.Lys165Gln) c.*199A>C (n.*199A>C) c.*414A>C (n.*414A>C) c.*509A>C (n.*509A>C) c.343A>C (p.Lys115Gln) c.595A>C (p.Lys199Gln) c.415A>C (p.Lys139Gln) c.406A>C (p.Lys136Gln) c.499A>C (p.Lys167Gln) c.409A>C (p.Lys137Gln) c.454A>C (p.Lys152Gln) | |
13 | g.101726625G>A | CA484767547 | FGF14 | c.609C>T (p.Pro203=) c.492C>T (p.Pro164=) c.*198C>T (n.*198C>T) c.*413C>T (n.*413C>T) c.*508C>T (n.*508C>T) c.342C>T (p.Pro114=) c.594C>T (p.Pro198=) c.414C>T (p.Pro138=) c.405C>T (p.Pro135=) c.498C>T (p.Pro166=) c.408C>T (p.Pro136=) c.453C>T (p.Pro151=) | |
13 | g.101726625G>C | CA484767546 | FGF14 | c.609C>G (p.Pro203=) c.492C>G (p.Pro164=) c.*198C>G (n.*198C>G) c.*413C>G (n.*413C>G) c.*508C>G (n.*508C>G) c.342C>G (p.Pro114=) c.594C>G (p.Pro198=) c.414C>G (p.Pro138=) c.405C>G (p.Pro135=) c.498C>G (p.Pro166=) c.408C>G (p.Pro136=) c.453C>G (p.Pro151=) | gnomAD v4 |
13 | g.101726625G= | CA2114682678 | FGF14 | c.609C= (p.Pro203=) c.492C= (p.Pro164=) c.*198C= (n.*198C=) c.*413C= (n.*413C=) c.*508C= (n.*508C=) c.342C= (p.Pro114=) c.594C= (p.Pro198=) c.414C= (p.Pro138=) c.405C= (p.Pro135=) c.498C= (p.Pro166=) c.408C= (p.Pro136=) c.453C= (p.Pro151=) | |
13 | g.101726625G>T | CA7037136 | FGF14 | c.609C>A (p.Pro203=) c.492C>A (p.Pro164=) c.*198C>A (n.*198C>A) c.*413C>A (n.*413C>A) c.*508C>A (n.*508C>A) c.342C>A (p.Pro114=) c.594C>A (p.Pro198=) c.414C>A (p.Pro138=) c.405C>A (p.Pro135=) c.498C>A (p.Pro166=) c.408C>A (p.Pro136=) c.453C>A (p.Pro151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726626G>A | CA388711004 | FGF14 | c.608C>T (p.Pro203Leu) c.491C>T (p.Pro164Leu) c.*197C>T (n.*197C>T) c.*412C>T (n.*412C>T) c.*507C>T (n.*507C>T) c.341C>T (p.Pro114Leu) c.593C>T (p.Pro198Leu) c.413C>T (p.Pro138Leu) c.404C>T (p.Pro135Leu) c.497C>T (p.Pro166Leu) c.407C>T (p.Pro136Leu) c.452C>T (p.Pro151Leu) | |
13 | g.101726626G>C | CA388711005 | FGF14 | c.608C>G (p.Pro203Arg) c.491C>G (p.Pro164Arg) c.*197C>G (n.*197C>G) c.*412C>G (n.*412C>G) c.*507C>G (n.*507C>G) c.341C>G (p.Pro114Arg) c.593C>G (p.Pro198Arg) c.413C>G (p.Pro138Arg) c.404C>G (p.Pro135Arg) c.497C>G (p.Pro166Arg) c.407C>G (p.Pro136Arg) c.452C>G (p.Pro151Arg) | |
13 | g.101726626G>T | CA388711003 | FGF14 | c.608C>A (p.Pro203His) c.491C>A (p.Pro164His) c.*197C>A (n.*197C>A) c.*412C>A (n.*412C>A) c.*507C>A (n.*507C>A) c.341C>A (p.Pro114His) c.593C>A (p.Pro198His) c.413C>A (p.Pro138His) c.404C>A (p.Pro135His) c.497C>A (p.Pro166His) c.407C>A (p.Pro136His) c.452C>A (p.Pro151His) | |
13 | g.101726627G>A | CA388711006 | FGF14 | c.607C>T (p.Pro203Ser) c.490C>T (p.Pro164Ser) c.*196C>T (n.*196C>T) c.*411C>T (n.*411C>T) c.*506C>T (n.*506C>T) c.340C>T (p.Pro114Ser) c.592C>T (p.Pro198Ser) c.412C>T (p.Pro138Ser) c.403C>T (p.Pro135Ser) c.496C>T (p.Pro166Ser) c.406C>T (p.Pro136Ser) c.451C>T (p.Pro151Ser) | dbSNP |
13 | g.101726627G>C | CA388711007 | FGF14 | c.607C>G (p.Pro203Ala) c.490C>G (p.Pro164Ala) c.*196C>G (n.*196C>G) c.*411C>G (n.*411C>G) c.*506C>G (n.*506C>G) c.340C>G (p.Pro114Ala) c.592C>G (p.Pro198Ala) c.412C>G (p.Pro138Ala) c.403C>G (p.Pro135Ala) c.496C>G (p.Pro166Ala) c.406C>G (p.Pro136Ala) c.451C>G (p.Pro151Ala) | |
13 | g.101726627G>T | CA388711008 | FGF14 | c.607C>A (p.Pro203Thr) c.490C>A (p.Pro164Thr) c.*196C>A (n.*196C>A) c.*411C>A (n.*411C>A) c.*506C>A (n.*506C>A) c.340C>A (p.Pro114Thr) c.592C>A (p.Pro198Thr) c.412C>A (p.Pro138Thr) c.403C>A (p.Pro135Thr) c.496C>A (p.Pro166Thr) c.406C>A (p.Pro136Thr) c.451C>A (p.Pro151Thr) | |
13 | g.101726628T>A | CA484767548 | FGF14 | c.606A>T (p.Leu202=) c.489A>T (p.Leu163=) c.*195A>T (n.*195A>T) c.*410A>T (n.*410A>T) c.*505A>T (n.*505A>T) c.339A>T (p.Leu113=) c.591A>T (p.Leu197=) c.411A>T (p.Leu137=) c.402A>T (p.Leu134=) c.495A>T (p.Leu165=) c.405A>T (p.Leu135=) c.450A>T (p.Leu150=) | |
13 | g.101726628T>C | CA7037137 | FGF14 | c.606A>G (p.Leu202=) c.489A>G (p.Leu163=) c.*195A>G (n.*195A>G) c.*410A>G (n.*410A>G) c.*505A>G (n.*505A>G) c.339A>G (p.Leu113=) c.591A>G (p.Leu197=) c.411A>G (p.Leu137=) c.402A>G (p.Leu134=) c.495A>G (p.Leu165=) c.405A>G (p.Leu135=) c.450A>G (p.Leu150=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.101726628T>G | CA484767549 | FGF14 | c.606A>C (p.Leu202=) c.489A>C (p.Leu163=) c.*195A>C (n.*195A>C) c.*410A>C (n.*410A>C) c.*505A>C (n.*505A>C) c.339A>C (p.Leu113=) c.591A>C (p.Leu197=) c.411A>C (p.Leu137=) c.402A>C (p.Leu134=) c.495A>C (p.Leu165=) c.405A>C (p.Leu135=) c.450A>C (p.Leu150=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.101726628T= | CA2114682682 | FGF14 | c.606A= (p.Leu202=) c.489A= (p.Leu163=) c.*195A= (n.*195A=) c.*410A= (n.*410A=) c.*505A= (n.*505A=) c.339A= (p.Leu113=) c.591A= (p.Leu197=) c.411A= (p.Leu137=) c.402A= (p.Leu134=) c.495A= (p.Leu165=) c.405A= (p.Leu135=) c.450A= (p.Leu150=) | |
13 | g.101726629A>C | CA388711009 | FGF14 | c.605T>G (p.Leu202Arg) c.488T>G (p.Leu163Arg) c.*194T>G (n.*194T>G) c.*409T>G (n.*409T>G) c.*504T>G (n.*504T>G) c.338T>G (p.Leu113Arg) c.590T>G (p.Leu197Arg) c.410T>G (p.Leu137Arg) c.401T>G (p.Leu134Arg) c.494T>G (p.Leu165Arg) c.404T>G (p.Leu135Arg) c.449T>G (p.Leu150Arg) | |
13 | g.101726629A>G | CA388711010 | FGF14 | c.605T>C (p.Leu202Pro) c.488T>C (p.Leu163Pro) c.*194T>C (n.*194T>C) c.*409T>C (n.*409T>C) c.*504T>C (n.*504T>C) c.338T>C (p.Leu113Pro) c.590T>C (p.Leu197Pro) c.410T>C (p.Leu137Pro) c.401T>C (p.Leu134Pro) c.494T>C (p.Leu165Pro) c.404T>C (p.Leu135Pro) c.449T>C (p.Leu150Pro) | gnomAD v4 |
13 | g.101726629A>T | CA388711011 | FGF14 | c.605T>A (p.Leu202Gln) c.488T>A (p.Leu163Gln) c.*194T>A (n.*194T>A) c.*409T>A (n.*409T>A) c.*504T>A (n.*504T>A) c.338T>A (p.Leu113Gln) c.590T>A (p.Leu197Gln) c.410T>A (p.Leu137Gln) c.401T>A (p.Leu134Gln) c.494T>A (p.Leu165Gln) c.404T>A (p.Leu135Gln) c.449T>A (p.Leu150Gln) | gnomAD v4 |
13 | g.101726630G>A | CA484767550 | FGF14 | c.604C>T (p.Leu202=) c.487C>T (p.Leu163=) c.*193C>T (n.*193C>T) c.*408C>T (n.*408C>T) c.*503C>T (n.*503C>T) c.337C>T (p.Leu113=) c.589C>T (p.Leu197=) c.409C>T (p.Leu137=) c.400C>T (p.Leu134=) c.493C>T (p.Leu165=) c.403C>T (p.Leu135=) c.448C>T (p.Leu150=) | |
13 | g.101726630G>C | CA388711012 | FGF14 | c.604C>G (p.Leu202Val) c.487C>G (p.Leu163Val) c.*193C>G (n.*193C>G) c.*408C>G (n.*408C>G) c.*503C>G (n.*503C>G) c.337C>G (p.Leu113Val) c.589C>G (p.Leu197Val) c.409C>G (p.Leu137Val) c.400C>G (p.Leu134Val) c.493C>G (p.Leu165Val) c.403C>G (p.Leu135Val) c.448C>G (p.Leu150Val) | |
13 | g.101726630G>T | CA388711013 | FGF14 | c.604C>A (p.Leu202Ile) c.487C>A (p.Leu163Ile) c.*193C>A (n.*193C>A) c.*408C>A (n.*408C>A) c.*503C>A (n.*503C>A) c.337C>A (p.Leu113Ile) c.589C>A (p.Leu197Ile) c.409C>A (p.Leu137Ile) c.400C>A (p.Leu134Ile) c.493C>A (p.Leu165Ile) c.403C>A (p.Leu135Ile) c.448C>A (p.Leu150Ile) | |
13 | g.101726631A>C | CA388711014 | FGF14 | c.603T>G (p.Phe201Leu) c.486T>G (p.Phe162Leu) c.*192T>G (n.*192T>G) c.*407T>G (n.*407T>G) c.*502T>G (n.*502T>G) c.336T>G (p.Phe112Leu) c.588T>G (p.Phe196Leu) c.408T>G (p.Phe136Leu) c.399T>G (p.Phe133Leu) c.492T>G (p.Phe164Leu) c.402T>G (p.Phe134Leu) c.447T>G (p.Phe149Leu) | |
13 | g.101726631A>G | CA484767551 | FGF14 | c.603T>C (p.Phe201=) c.486T>C (p.Phe162=) c.*192T>C (n.*192T>C) c.*407T>C (n.*407T>C) c.*502T>C (n.*502T>C) c.336T>C (p.Phe112=) c.588T>C (p.Phe196=) c.408T>C (p.Phe136=) c.399T>C (p.Phe133=) c.492T>C (p.Phe164=) c.402T>C (p.Phe134=) c.447T>C (p.Phe149=) | |
13 | g.101726631A>T | CA388711015 | FGF14 | c.603T>A (p.Phe201Leu) c.486T>A (p.Phe162Leu) c.*192T>A (n.*192T>A) c.*407T>A (n.*407T>A) c.*502T>A (n.*502T>A) c.336T>A (p.Phe112Leu) c.588T>A (p.Phe196Leu) c.408T>A (p.Phe136Leu) c.399T>A (p.Phe133Leu) c.492T>A (p.Phe164Leu) c.402T>A (p.Phe134Leu) c.447T>A (p.Phe149Leu) | |
13 | g.101726632A>C | CA388711016 | FGF14 | c.602T>G (p.Phe201Cys) c.485T>G (p.Phe162Cys) c.*191T>G (n.*191T>G) c.*406T>G (n.*406T>G) c.*501T>G (n.*501T>G) c.335T>G (p.Phe112Cys) c.587T>G (p.Phe196Cys) c.407T>G (p.Phe136Cys) c.398T>G (p.Phe133Cys) c.491T>G (p.Phe164Cys) c.401T>G (p.Phe134Cys) c.446T>G (p.Phe149Cys) | |
13 | g.101726632A>G | CA388711017 | FGF14 | c.602T>C (p.Phe201Ser) c.485T>C (p.Phe162Ser) c.*191T>C (n.*191T>C) c.*406T>C (n.*406T>C) c.*501T>C (n.*501T>C) c.335T>C (p.Phe112Ser) c.587T>C (p.Phe196Ser) c.407T>C (p.Phe136Ser) c.398T>C (p.Phe133Ser) c.491T>C (p.Phe164Ser) c.401T>C (p.Phe134Ser) c.446T>C (p.Phe149Ser) | |
13 | g.101726632A>T | CA388711018 | FGF14 | c.602T>A (p.Phe201Tyr) c.485T>A (p.Phe162Tyr) c.*191T>A (n.*191T>A) c.*406T>A (n.*406T>A) c.*501T>A (n.*501T>A) c.335T>A (p.Phe112Tyr) c.587T>A (p.Phe196Tyr) c.407T>A (p.Phe136Tyr) c.398T>A (p.Phe133Tyr) c.491T>A (p.Phe164Tyr) c.401T>A (p.Phe134Tyr) c.446T>A (p.Phe149Tyr) | |
13 | g.101726633A>C | CA388711019 | FGF14 | c.601T>G (p.Phe201Val) c.484T>G (p.Phe162Val) c.*190T>G (n.*190T>G) c.*405T>G (n.*405T>G) c.*500T>G (n.*500T>G) c.334T>G (p.Phe112Val) c.586T>G (p.Phe196Val) c.406T>G (p.Phe136Val) c.397T>G (p.Phe133Val) c.490T>G (p.Phe164Val) c.400T>G (p.Phe134Val) c.445T>G (p.Phe149Val) | |
13 | g.101726633A>G | CA388711021 | FGF14 | c.601T>C (p.Phe201Leu) c.484T>C (p.Phe162Leu) c.*190T>C (n.*190T>C) c.*405T>C (n.*405T>C) c.*500T>C (n.*500T>C) c.334T>C (p.Phe112Leu) c.586T>C (p.Phe196Leu) c.406T>C (p.Phe136Leu) c.397T>C (p.Phe133Leu) c.490T>C (p.Phe164Leu) c.400T>C (p.Phe134Leu) c.445T>C (p.Phe149Leu) | |
13 | g.101726633A>T | CA388711020 | FGF14 | c.601T>A (p.Phe201Ile) c.484T>A (p.Phe162Ile) c.*190T>A (n.*190T>A) c.*405T>A (n.*405T>A) c.*500T>A (n.*500T>A) c.334T>A (p.Phe112Ile) c.586T>A (p.Phe196Ile) c.406T>A (p.Phe136Ile) c.397T>A (p.Phe133Ile) c.490T>A (p.Phe164Ile) c.400T>A (p.Phe134Ile) c.445T>A (p.Phe149Ile) | |
13 | g.101726634A>C | CA388711022 | FGF14 | c.600T>G (p.His200Gln) c.483T>G (p.His161Gln) c.*189T>G (n.*189T>G) c.*404T>G (n.*404T>G) c.*499T>G (n.*499T>G) c.333T>G (p.His111Gln) c.585T>G (p.His195Gln) c.405T>G (p.His135Gln) c.396T>G (p.His132Gln) c.489T>G (p.His163Gln) c.399T>G (p.His133Gln) c.444T>G (p.His148Gln) | gnomAD v4 |
13 | g.101726634A>G | CA484767552 | FGF14 | c.600T>C (p.His200=) c.483T>C (p.His161=) c.*189T>C (n.*189T>C) c.*404T>C (n.*404T>C) c.*499T>C (n.*499T>C) c.333T>C (p.His111=) c.585T>C (p.His195=) c.405T>C (p.His135=) c.396T>C (p.His132=) c.489T>C (p.His163=) c.399T>C (p.His133=) c.444T>C (p.His148=) | |
13 | g.101726634A>T | CA388711023 | FGF14 | c.600T>A (p.His200Gln) c.483T>A (p.His161Gln) c.*189T>A (n.*189T>A) c.*404T>A (n.*404T>A) c.*499T>A (n.*499T>A) c.333T>A (p.His111Gln) c.585T>A (p.His195Gln) c.405T>A (p.His135Gln) c.396T>A (p.His132Gln) c.489T>A (p.His163Gln) c.399T>A (p.His133Gln) c.444T>A (p.His148Gln) | |
13 | g.101726635T>A | CA388711024 | FGF14 | c.599A>T (p.His200Leu) c.482A>T (p.His161Leu) c.*188A>T (n.*188A>T) c.*403A>T (n.*403A>T) c.*498A>T (n.*498A>T) c.332A>T (p.His111Leu) c.584A>T (p.His195Leu) c.404A>T (p.His135Leu) c.395A>T (p.His132Leu) c.488A>T (p.His163Leu) c.398A>T (p.His133Leu) c.443A>T (p.His148Leu) | dbSNP gnomAD v2 |
13 | g.101726635T>C | CA388711025 | FGF14 | c.599A>G (p.His200Arg) c.482A>G (p.His161Arg) c.*188A>G (n.*188A>G) c.*403A>G (n.*403A>G) c.*498A>G (n.*498A>G) c.332A>G (p.His111Arg) c.584A>G (p.His195Arg) c.404A>G (p.His135Arg) c.395A>G (p.His132Arg) c.488A>G (p.His163Arg) c.398A>G (p.His133Arg) c.443A>G (p.His148Arg) | |
13 | g.101726635T>G | CA388711026 | FGF14 | c.599A>C (p.His200Pro) c.482A>C (p.His161Pro) c.*188A>C (n.*188A>C) c.*403A>C (n.*403A>C) c.*498A>C (n.*498A>C) c.332A>C (p.His111Pro) c.584A>C (p.His195Pro) c.404A>C (p.His135Pro) c.395A>C (p.His132Pro) c.488A>C (p.His163Pro) c.398A>C (p.His133Pro) c.443A>C (p.His148Pro) | gnomAD v4 |
13 | g.101726635T= | CA2114682687 | FGF14 | c.599A= (p.His200=) c.482A= (p.His161=) c.*188A= (n.*188A=) c.*403A= (n.*403A=) c.*498A= (n.*498A=) c.332A= (p.His111=) c.584A= (p.His195=) c.404A= (p.His135=) c.395A= (p.His132=) c.488A= (p.His163=) c.398A= (p.His133=) c.443A= (p.His148=) | |
13 | g.101726636G>A | CA388711027 | FGF14 | c.598C>T (p.His200Tyr) c.481C>T (p.His161Tyr) c.*187C>T (n.*187C>T) c.*402C>T (n.*402C>T) c.*497C>T (n.*497C>T) c.331C>T (p.His111Tyr) c.583C>T (p.His195Tyr) c.403C>T (p.His135Tyr) c.394C>T (p.His132Tyr) c.487C>T (p.His163Tyr) c.397C>T (p.His133Tyr) c.442C>T (p.His148Tyr) | COSMIC COSMIC |
13 | g.101726636G>C | CA388711028 | FGF14 | c.598C>G (p.His200Asp) c.481C>G (p.His161Asp) c.*187C>G (n.*187C>G) c.*402C>G (n.*402C>G) c.*497C>G (n.*497C>G) c.331C>G (p.His111Asp) c.583C>G (p.His195Asp) c.403C>G (p.His135Asp) c.394C>G (p.His132Asp) c.487C>G (p.His163Asp) c.397C>G (p.His133Asp) c.442C>G (p.His148Asp) | |
13 | g.101726636G>T | CA388711029 | FGF14 | c.598C>A (p.His200Asn) c.481C>A (p.His161Asn) c.*187C>A (n.*187C>A) c.*402C>A (n.*402C>A) c.*497C>A (n.*497C>A) c.331C>A (p.His111Asn) c.583C>A (p.His195Asn) c.403C>A (p.His135Asn) c.394C>A (p.His132Asn) c.487C>A (p.His163Asn) c.397C>A (p.His133Asn) c.442C>A (p.His148Asn) | |
13 | g.101726637A>C | CA484767553 | FGF14 | c.597T>G (p.Ala199=) c.480T>G (p.Ala160=) c.*186T>G (n.*186T>G) c.*401T>G (n.*401T>G) c.*496T>G (n.*496T>G) c.330T>G (p.Ala110=) c.582T>G (p.Ala194=) c.402T>G (p.Ala134=) c.393T>G (p.Ala131=) c.486T>G (p.Ala162=) c.396T>G (p.Ala132=) c.441T>G (p.Ala147=) | |
13 | g.101726637A>G | CA484767555 | FGF14 | c.597T>C (p.Ala199=) c.480T>C (p.Ala160=) c.*186T>C (n.*186T>C) c.*401T>C (n.*401T>C) c.*496T>C (n.*496T>C) c.330T>C (p.Ala110=) c.582T>C (p.Ala194=) c.402T>C (p.Ala134=) c.393T>C (p.Ala131=) c.486T>C (p.Ala162=) c.396T>C (p.Ala132=) c.441T>C (p.Ala147=) | |
13 | g.101726637A>T | CA484767554 | FGF14 | c.597T>A (p.Ala199=) c.480T>A (p.Ala160=) c.*186T>A (n.*186T>A) c.*401T>A (n.*401T>A) c.*496T>A (n.*496T>A) c.330T>A (p.Ala110=) c.582T>A (p.Ala194=) c.402T>A (p.Ala134=) c.393T>A (p.Ala131=) c.486T>A (p.Ala162=) c.396T>A (p.Ala132=) c.441T>A (p.Ala147=) | |
13 | g.101726638G>A | CA388711030 | FGF14 | c.596C>T (p.Ala199Val) c.479C>T (p.Ala160Val) c.*185C>T (n.*185C>T) c.*400C>T (n.*400C>T) c.*495C>T (n.*495C>T) c.329C>T (p.Ala110Val) c.581C>T (p.Ala194Val) c.401C>T (p.Ala134Val) c.392C>T (p.Ala131Val) c.485C>T (p.Ala162Val) c.395C>T (p.Ala132Val) c.440C>T (p.Ala147Val) | ClinVar |
13 | g.101726638G>C | CA388711031 | FGF14 | c.596C>G (p.Ala199Gly) c.479C>G (p.Ala160Gly) c.*185C>G (n.*185C>G) c.*400C>G (n.*400C>G) c.*495C>G (n.*495C>G) c.329C>G (p.Ala110Gly) c.581C>G (p.Ala194Gly) c.401C>G (p.Ala134Gly) c.392C>G (p.Ala131Gly) c.485C>G (p.Ala162Gly) c.395C>G (p.Ala132Gly) c.440C>G (p.Ala147Gly) | |
13 | g.101726638G>T | CA388711032 | FGF14 | c.596C>A (p.Ala199Asp) c.479C>A (p.Ala160Asp) c.*185C>A (n.*185C>A) c.*400C>A (n.*400C>A) c.*495C>A (n.*495C>A) c.329C>A (p.Ala110Asp) c.581C>A (p.Ala194Asp) c.401C>A (p.Ala134Asp) c.392C>A (p.Ala131Asp) c.485C>A (p.Ala162Asp) c.395C>A (p.Ala132Asp) c.440C>A (p.Ala147Asp) | |
13 | g.101726639C>A | CA388711035 | FGF14 | c.595G>T (p.Ala199Ser) c.478G>T (p.Ala160Ser) c.*184G>T (n.*184G>T) c.*399G>T (n.*399G>T) c.*494G>T (n.*494G>T) c.328G>T (p.Ala110Ser) c.580G>T (p.Ala194Ser) c.400G>T (p.Ala134Ser) c.391G>T (p.Ala131Ser) c.484G>T (p.Ala162Ser) c.394G>T (p.Ala132Ser) c.439G>T (p.Ala147Ser) | |
13 | g.101726639C>G | CA388711034 | FGF14 | c.595G>C (p.Ala199Pro) c.478G>C (p.Ala160Pro) c.*184G>C (n.*184G>C) c.*399G>C (n.*399G>C) c.*494G>C (n.*494G>C) c.328G>C (p.Ala110Pro) c.580G>C (p.Ala194Pro) c.400G>C (p.Ala134Pro) c.391G>C (p.Ala131Pro) c.484G>C (p.Ala162Pro) c.394G>C (p.Ala132Pro) c.439G>C (p.Ala147Pro) | |
13 | g.101726639C>T | CA388711033 | FGF14 | c.595G>A (p.Ala199Thr) c.478G>A (p.Ala160Thr) c.*184G>A (n.*184G>A) c.*399G>A (n.*399G>A) c.*494G>A (n.*494G>A) c.328G>A (p.Ala110Thr) c.580G>A (p.Ala194Thr) c.400G>A (p.Ala134Thr) c.391G>A (p.Ala131Thr) c.484G>A (p.Ala162Thr) c.394G>A (p.Ala132Thr) c.439G>A (p.Ala147Thr) | COSMIC COSMIC |
13 | g.101726640T>A | CA7037138 | FGF14 | c.594A>T (p.Ala198=) c.477A>T (p.Ala159=) c.*183A>T (n.*183A>T) c.*398A>T (n.*398A>T) c.*493A>T (n.*493A>T) c.327A>T (p.Ala109=) c.579A>T (p.Ala193=) c.399A>T (p.Ala133=) c.390A>T (p.Ala130=) c.483A>T (p.Ala161=) c.393A>T (p.Ala131=) c.438A>T (p.Ala146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726640T>C | CA7037139 | FGF14 | c.594A>G (p.Ala198=) c.477A>G (p.Ala159=) c.*183A>G (n.*183A>G) c.*398A>G (n.*398A>G) c.*493A>G (n.*493A>G) c.327A>G (p.Ala109=) c.579A>G (p.Ala193=) c.399A>G (p.Ala133=) c.390A>G (p.Ala130=) c.483A>G (p.Ala161=) c.393A>G (p.Ala131=) c.438A>G (p.Ala146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726640T>G | CA484767556 | FGF14 | c.594A>C (p.Ala198=) c.477A>C (p.Ala159=) c.*183A>C (n.*183A>C) c.*398A>C (n.*398A>C) c.*493A>C (n.*493A>C) c.327A>C (p.Ala109=) c.579A>C (p.Ala193=) c.399A>C (p.Ala133=) c.390A>C (p.Ala130=) c.483A>C (p.Ala161=) c.393A>C (p.Ala131=) c.438A>C (p.Ala146=) | |
13 | g.101726640T= | CA2114682694 | FGF14 | c.594A= (p.Ala198=) c.477A= (p.Ala159=) c.*183A= (n.*183A=) c.*398A= (n.*398A=) c.*493A= (n.*493A=) c.327A= (p.Ala109=) c.579A= (p.Ala193=) c.399A= (p.Ala133=) c.390A= (p.Ala130=) c.483A= (p.Ala161=) c.393A= (p.Ala131=) c.438A= (p.Ala146=) | |
13 | g.101726641G>A | CA388711036 | FGF14 | c.593C>T (p.Ala198Val) c.476C>T (p.Ala159Val) c.*182C>T (n.*182C>T) c.*397C>T (n.*397C>T) c.*492C>T (n.*492C>T) c.326C>T (p.Ala109Val) c.578C>T (p.Ala193Val) c.398C>T (p.Ala133Val) c.389C>T (p.Ala130Val) c.482C>T (p.Ala161Val) c.392C>T (p.Ala131Val) c.437C>T (p.Ala146Val) | dbSNP |
13 | g.101726641G>C | CA388711037 | FGF14 | c.593C>G (p.Ala198Gly) c.476C>G (p.Ala159Gly) c.*182C>G (n.*182C>G) c.*397C>G (n.*397C>G) c.*492C>G (n.*492C>G) c.326C>G (p.Ala109Gly) c.578C>G (p.Ala193Gly) c.398C>G (p.Ala133Gly) c.389C>G (p.Ala130Gly) c.482C>G (p.Ala161Gly) c.392C>G (p.Ala131Gly) c.437C>G (p.Ala146Gly) | gnomAD v4 |
13 | g.101726641G>T | CA388711038 | FGF14 | c.593C>A (p.Ala198Glu) c.476C>A (p.Ala159Glu) c.*182C>A (n.*182C>A) c.*397C>A (n.*397C>A) c.*492C>A (n.*492C>A) c.326C>A (p.Ala109Glu) c.578C>A (p.Ala193Glu) c.398C>A (p.Ala133Glu) c.389C>A (p.Ala130Glu) c.482C>A (p.Ala161Glu) c.392C>A (p.Ala131Glu) c.437C>A (p.Ala146Glu) | gnomAD v4 |
13 | g.101726642C>A | CA388711039 | FGF14 | c.592G>T (p.Ala198Ser) c.475G>T (p.Ala159Ser) c.*181G>T (n.*181G>T) c.*396G>T (n.*396G>T) c.*491G>T (n.*491G>T) c.325G>T (p.Ala109Ser) c.577G>T (p.Ala193Ser) c.397G>T (p.Ala133Ser) c.388G>T (p.Ala130Ser) c.481G>T (p.Ala161Ser) c.391G>T (p.Ala131Ser) c.436G>T (p.Ala146Ser) | |
13 | g.101726642C>G | CA388711040 | FGF14 | c.592G>C (p.Ala198Pro) c.475G>C (p.Ala159Pro) c.*181G>C (n.*181G>C) c.*396G>C (n.*396G>C) c.*491G>C (n.*491G>C) c.325G>C (p.Ala109Pro) c.577G>C (p.Ala193Pro) c.397G>C (p.Ala133Pro) c.388G>C (p.Ala130Pro) c.481G>C (p.Ala161Pro) c.391G>C (p.Ala131Pro) c.436G>C (p.Ala146Pro) | |
13 | g.101726642C>T | CA388711041 | FGF14 | c.592G>A (p.Ala198Thr) c.475G>A (p.Ala159Thr) c.*181G>A (n.*181G>A) c.*396G>A (n.*396G>A) c.*491G>A (n.*491G>A) c.325G>A (p.Ala109Thr) c.577G>A (p.Ala193Thr) c.397G>A (p.Ala133Thr) c.388G>A (p.Ala130Thr) c.481G>A (p.Ala161Thr) c.391G>A (p.Ala131Thr) c.436G>A (p.Ala146Thr) | dbSNP |
13 | g.101726643T>A | CA484767557 | FGF14 | c.591A>T (p.Pro197=) c.474A>T (p.Pro158=) c.*180A>T (n.*180A>T) c.*395A>T (n.*395A>T) c.*490A>T (n.*490A>T) c.324A>T (p.Pro108=) c.576A>T (p.Pro192=) c.396A>T (p.Pro132=) c.387A>T (p.Pro129=) c.480A>T (p.Pro160=) c.390A>T (p.Pro130=) c.435A>T (p.Pro145=) | |
13 | g.101726643T>C | CA484767558 | FGF14 | c.591A>G (p.Pro197=) c.474A>G (p.Pro158=) c.*180A>G (n.*180A>G) c.*395A>G (n.*395A>G) c.*490A>G (n.*490A>G) c.324A>G (p.Pro108=) c.576A>G (p.Pro192=) c.396A>G (p.Pro132=) c.387A>G (p.Pro129=) c.480A>G (p.Pro160=) c.390A>G (p.Pro130=) c.435A>G (p.Pro145=) | |
13 | g.101726643T>G | CA484767559 | FGF14 | c.591A>C (p.Pro197=) c.474A>C (p.Pro158=) c.*180A>C (n.*180A>C) c.*395A>C (n.*395A>C) c.*490A>C (n.*490A>C) c.324A>C (p.Pro108=) c.576A>C (p.Pro192=) c.396A>C (p.Pro132=) c.387A>C (p.Pro129=) c.480A>C (p.Pro160=) c.390A>C (p.Pro130=) c.435A>C (p.Pro145=) | COSMIC COSMIC |
13 | g.101726644G>A | CA388711042 | FGF14 | c.590C>T (p.Pro197Leu) c.473C>T (p.Pro158Leu) c.*179C>T (n.*179C>T) c.*394C>T (n.*394C>T) c.*489C>T (n.*489C>T) c.323C>T (p.Pro108Leu) c.575C>T (p.Pro192Leu) c.395C>T (p.Pro132Leu) c.386C>T (p.Pro129Leu) c.479C>T (p.Pro160Leu) c.389C>T (p.Pro130Leu) c.434C>T (p.Pro145Leu) | gnomAD v4 |
13 | g.101726644G>C | CA388711043 | FGF14 | c.590C>G (p.Pro197Arg) c.473C>G (p.Pro158Arg) c.*179C>G (n.*179C>G) c.*394C>G (n.*394C>G) c.*489C>G (n.*489C>G) c.323C>G (p.Pro108Arg) c.575C>G (p.Pro192Arg) c.395C>G (p.Pro132Arg) c.386C>G (p.Pro129Arg) c.479C>G (p.Pro160Arg) c.389C>G (p.Pro130Arg) c.434C>G (p.Pro145Arg) | |
13 | g.101726644G>T | CA388711044 | FGF14 | c.590C>A (p.Pro197Gln) c.473C>A (p.Pro158Gln) c.*179C>A (n.*179C>A) c.*394C>A (n.*394C>A) c.*489C>A (n.*489C>A) c.323C>A (p.Pro108Gln) c.575C>A (p.Pro192Gln) c.395C>A (p.Pro132Gln) c.386C>A (p.Pro129Gln) c.479C>A (p.Pro160Gln) c.389C>A (p.Pro130Gln) c.434C>A (p.Pro145Gln) | dbSNP |
13 | g.101726645G>A | CA388711045 | FGF14 | c.589C>T (p.Pro197Ser) c.472C>T (p.Pro158Ser) c.*178C>T (n.*178C>T) c.*393C>T (n.*393C>T) c.*488C>T (n.*488C>T) c.322C>T (p.Pro108Ser) c.574C>T (p.Pro192Ser) c.394C>T (p.Pro132Ser) c.385C>T (p.Pro129Ser) c.478C>T (p.Pro160Ser) c.388C>T (p.Pro130Ser) c.433C>T (p.Pro145Ser) | |
13 | g.101726645G>C | CA388711046 | FGF14 | c.589C>G (p.Pro197Ala) c.472C>G (p.Pro158Ala) c.*178C>G (n.*178C>G) c.*393C>G (n.*393C>G) c.*488C>G (n.*488C>G) c.322C>G (p.Pro108Ala) c.574C>G (p.Pro192Ala) c.394C>G (p.Pro132Ala) c.385C>G (p.Pro129Ala) c.478C>G (p.Pro160Ala) c.388C>G (p.Pro130Ala) c.433C>G (p.Pro145Ala) | dbSNP gnomAD v4 |
13 | g.101726645G= | CA2114682701 | FGF14 | c.589C= (p.Pro197=) c.472C= (p.Pro158=) c.*178C= (n.*178C=) c.*393C= (n.*393C=) c.*488C= (n.*488C=) c.322C= (p.Pro108=) c.574C= (p.Pro192=) c.394C= (p.Pro132=) c.385C= (p.Pro129=) c.478C= (p.Pro160=) c.388C= (p.Pro130=) c.433C= (p.Pro145=) | |
13 | g.101726645G>T | CA7037140 | FGF14 | c.589C>A (p.Pro197Thr) c.472C>A (p.Pro158Thr) c.*178C>A (n.*178C>A) c.*393C>A (n.*393C>A) c.*488C>A (n.*488C>A) c.322C>A (p.Pro108Thr) c.574C>A (p.Pro192Thr) c.394C>A (p.Pro132Thr) c.385C>A (p.Pro129Thr) c.478C>A (p.Pro160Thr) c.388C>A (p.Pro130Thr) c.433C>A (p.Pro145Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726645_101726646insAAATGTCATTTA | CA2515966588 | FGF14 | c.588_589insTAAATGACATTT c.471_472insTAAATGACATTT c.*177_*178insTAAATGACATTT (n.*177_*178insTAAATGACATTT) c.*392_*393insTAAATGACATTT (n.*392_*393insTAAATGACATTT) c.*487_*488insTAAATGACATTT (n.*487_*488insTAAATGACATTT) c.321_322insTAAATGACATTT c.573_574insTAAATGACATTT c.393_394insTAAATGACATTT c.384_385insTAAATGACATTT c.477_478insTAAATGACATTT c.387_388insTAAATGACATTT c.432_433insTAAATGACATTT | |
13 | g.101726646T>A | CA388711048 | FGF14 | c.588A>T (p.Lys196Asn) c.471A>T (p.Lys157Asn) c.*177A>T (n.*177A>T) c.*392A>T (n.*392A>T) c.*487A>T (n.*487A>T) c.321A>T (p.Lys107Asn) c.573A>T (p.Lys191Asn) c.393A>T (p.Lys131Asn) c.384A>T (p.Lys128Asn) c.477A>T (p.Lys159Asn) c.387A>T (p.Lys129Asn) c.432A>T (p.Lys144Asn) | |
13 | g.101726646T>C | CA484767560 | FGF14 | c.588A>G (p.Lys196=) c.471A>G (p.Lys157=) c.*177A>G (n.*177A>G) c.*392A>G (n.*392A>G) c.*487A>G (n.*487A>G) c.321A>G (p.Lys107=) c.573A>G (p.Lys191=) c.393A>G (p.Lys131=) c.384A>G (p.Lys128=) c.477A>G (p.Lys159=) c.387A>G (p.Lys129=) c.432A>G (p.Lys144=) | gnomAD v4 |
13 | g.101726646T>G | CA388711047 | FGF14 | c.588A>C (p.Lys196Asn) c.471A>C (p.Lys157Asn) c.*177A>C (n.*177A>C) c.*392A>C (n.*392A>C) c.*487A>C (n.*487A>C) c.321A>C (p.Lys107Asn) c.573A>C (p.Lys191Asn) c.393A>C (p.Lys131Asn) c.384A>C (p.Lys128Asn) c.477A>C (p.Lys159Asn) c.387A>C (p.Lys129Asn) c.432A>C (p.Lys144Asn) | dbSNP |
13 | g.101726646T= | CA2114682703 | FGF14 | c.588A= (p.Lys196=) c.471A= (p.Lys157=) c.*177A= (n.*177A=) c.*392A= (n.*392A=) c.*487A= (n.*487A=) c.321A= (p.Lys107=) c.573A= (p.Lys191=) c.393A= (p.Lys131=) c.384A= (p.Lys128=) c.477A= (p.Lys159=) c.387A= (p.Lys129=) c.432A= (p.Lys144=) | |
13 | g.101726647T>A | CA388711049 | FGF14 | c.587A>T (p.Lys196Ile) c.470A>T (p.Lys157Ile) c.*176A>T (n.*176A>T) c.*391A>T (n.*391A>T) c.*486A>T (n.*486A>T) c.320A>T (p.Lys107Ile) c.572A>T (p.Lys191Ile) c.392A>T (p.Lys131Ile) c.383A>T (p.Lys128Ile) c.476A>T (p.Lys159Ile) c.386A>T (p.Lys129Ile) c.431A>T (p.Lys144Ile) | |
13 | g.101726647T>C | CA388711050 | FGF14 | c.587A>G (p.Lys196Arg) c.470A>G (p.Lys157Arg) c.*176A>G (n.*176A>G) c.*391A>G (n.*391A>G) c.*486A>G (n.*486A>G) c.320A>G (p.Lys107Arg) c.572A>G (p.Lys191Arg) c.392A>G (p.Lys131Arg) c.383A>G (p.Lys128Arg) c.476A>G (p.Lys159Arg) c.386A>G (p.Lys129Arg) c.431A>G (p.Lys144Arg) | |
13 | g.101726647T>G | CA388711051 | FGF14 | c.587A>C (p.Lys196Thr) c.470A>C (p.Lys157Thr) c.*176A>C (n.*176A>C) c.*391A>C (n.*391A>C) c.*486A>C (n.*486A>C) c.320A>C (p.Lys107Thr) c.572A>C (p.Lys191Thr) c.392A>C (p.Lys131Thr) c.383A>C (p.Lys128Thr) c.476A>C (p.Lys159Thr) c.386A>C (p.Lys129Thr) c.431A>C (p.Lys144Thr) | |
13 | g.101726648T>A | CA388711052 | FGF14 | c.586A>T (p.Lys196Ter) c.469A>T (p.Lys157Ter) c.*175A>T (n.*175A>T) c.*390A>T (n.*390A>T) c.*485A>T (n.*485A>T) c.319A>T (p.Lys107Ter) c.571A>T (p.Lys191Ter) c.391A>T (p.Lys131Ter) c.382A>T (p.Lys128Ter) c.475A>T (p.Lys159Ter) c.385A>T (p.Lys129Ter) c.430A>T (p.Lys144Ter) | |
13 | g.101726648T>C | CA388711053 | FGF14 | c.586A>G (p.Lys196Glu) c.469A>G (p.Lys157Glu) c.*175A>G (n.*175A>G) c.*390A>G (n.*390A>G) c.*485A>G (n.*485A>G) c.319A>G (p.Lys107Glu) c.571A>G (p.Lys191Glu) c.391A>G (p.Lys131Glu) c.382A>G (p.Lys128Glu) c.475A>G (p.Lys159Glu) c.385A>G (p.Lys129Glu) c.430A>G (p.Lys144Glu) | |
13 | g.101726648T>G | CA388711054 | FGF14 | c.586A>C (p.Lys196Gln) c.469A>C (p.Lys157Gln) c.*175A>C (n.*175A>C) c.*390A>C (n.*390A>C) c.*485A>C (n.*485A>C) c.319A>C (p.Lys107Gln) c.571A>C (p.Lys191Gln) c.391A>C (p.Lys131Gln) c.382A>C (p.Lys128Gln) c.475A>C (p.Lys159Gln) c.385A>C (p.Lys129Gln) c.430A>C (p.Lys144Gln) | |
13 | g.101726649G>A | CA484767561 | FGF14 | c.585C>T (p.Thr195=) c.468C>T (p.Thr156=) c.*174C>T (n.*174C>T) c.*389C>T (n.*389C>T) c.*484C>T (n.*484C>T) c.318C>T (p.Thr106=) c.570C>T (p.Thr190=) c.390C>T (p.Thr130=) c.381C>T (p.Thr127=) c.474C>T (p.Thr158=) c.384C>T (p.Thr128=) c.429C>T (p.Thr143=) | COSMIC COSMIC |
13 | g.101726649G>C | CA484767562 | FGF14 | c.585C>G (p.Thr195=) c.468C>G (p.Thr156=) c.*174C>G (n.*174C>G) c.*389C>G (n.*389C>G) c.*484C>G (n.*484C>G) c.318C>G (p.Thr106=) c.570C>G (p.Thr190=) c.390C>G (p.Thr130=) c.381C>G (p.Thr127=) c.474C>G (p.Thr158=) c.384C>G (p.Thr128=) c.429C>G (p.Thr143=) | |
13 | g.101726649G= | CA2114682706 | FGF14 | c.585C= (p.Thr195=) c.468C= (p.Thr156=) c.*174C= (n.*174C=) c.*389C= (n.*389C=) c.*484C= (n.*484C=) c.318C= (p.Thr106=) c.570C= (p.Thr190=) c.390C= (p.Thr130=) c.381C= (p.Thr127=) c.474C= (p.Thr158=) c.384C= (p.Thr128=) c.429C= (p.Thr143=) | |
13 | g.101726649G>T | CA484767563 | FGF14 | c.585C>A (p.Thr195=) c.468C>A (p.Thr156=) c.*174C>A (n.*174C>A) c.*389C>A (n.*389C>A) c.*484C>A (n.*484C>A) c.318C>A (p.Thr106=) c.570C>A (p.Thr190=) c.390C>A (p.Thr130=) c.381C>A (p.Thr127=) c.474C>A (p.Thr158=) c.384C>A (p.Thr128=) c.429C>A (p.Thr143=) | dbSNP |
13 | g.101726650G>A | CA388711057 | FGF14 | c.584C>T (p.Thr195Ile) c.467C>T (p.Thr156Ile) c.*173C>T (n.*173C>T) c.*388C>T (n.*388C>T) c.*483C>T (n.*483C>T) c.317C>T (p.Thr106Ile) c.569C>T (p.Thr190Ile) c.389C>T (p.Thr130Ile) c.380C>T (p.Thr127Ile) c.473C>T (p.Thr158Ile) c.383C>T (p.Thr128Ile) c.428C>T (p.Thr143Ile) | |
13 | g.101726650G>C | CA388711055 | FGF14 | c.584C>G (p.Thr195Ser) c.467C>G (p.Thr156Ser) c.*173C>G (n.*173C>G) c.*388C>G (n.*388C>G) c.*483C>G (n.*483C>G) c.317C>G (p.Thr106Ser) c.569C>G (p.Thr190Ser) c.389C>G (p.Thr130Ser) c.380C>G (p.Thr127Ser) c.473C>G (p.Thr158Ser) c.383C>G (p.Thr128Ser) c.428C>G (p.Thr143Ser) | |
13 | g.101726650G>T | CA388711056 | FGF14 | c.584C>A (p.Thr195Asn) c.467C>A (p.Thr156Asn) c.*173C>A (n.*173C>A) c.*388C>A (n.*388C>A) c.*483C>A (n.*483C>A) c.317C>A (p.Thr106Asn) c.569C>A (p.Thr190Asn) c.389C>A (p.Thr130Asn) c.380C>A (p.Thr127Asn) c.473C>A (p.Thr158Asn) c.383C>A (p.Thr128Asn) c.428C>A (p.Thr143Asn) | |
13 | g.101726651T>A | CA388711058 | FGF14 | c.583A>T (p.Thr195Ser) c.466A>T (p.Thr156Ser) c.*172A>T (n.*172A>T) c.*387A>T (n.*387A>T) c.*482A>T (n.*482A>T) c.316A>T (p.Thr106Ser) c.568A>T (p.Thr190Ser) c.388A>T (p.Thr130Ser) c.379A>T (p.Thr127Ser) c.472A>T (p.Thr158Ser) c.382A>T (p.Thr128Ser) c.427A>T (p.Thr143Ser) | |
13 | g.101726651T>C | CA388711059 | FGF14 | c.583A>G (p.Thr195Ala) c.466A>G (p.Thr156Ala) c.*172A>G (n.*172A>G) c.*387A>G (n.*387A>G) c.*482A>G (n.*482A>G) c.316A>G (p.Thr106Ala) c.568A>G (p.Thr190Ala) c.388A>G (p.Thr130Ala) c.379A>G (p.Thr127Ala) c.472A>G (p.Thr158Ala) c.382A>G (p.Thr128Ala) c.427A>G (p.Thr143Ala) | |
13 | g.101726651T>G | CA388711060 | FGF14 | c.583A>C (p.Thr195Pro) c.466A>C (p.Thr156Pro) c.*172A>C (n.*172A>C) c.*387A>C (n.*387A>C) c.*482A>C (n.*482A>C) c.316A>C (p.Thr106Pro) c.568A>C (p.Thr190Pro) c.388A>C (p.Thr130Pro) c.379A>C (p.Thr127Pro) c.472A>C (p.Thr158Pro) c.382A>C (p.Thr128Pro) c.427A>C (p.Thr143Pro) | dbSNP |
13 | g.101726651T= | CA2114682709 | FGF14 | c.583A= (p.Thr195=) c.466A= (p.Thr156=) c.*172A= (n.*172A=) c.*387A= (n.*387A=) c.*482A= (n.*482A=) c.316A= (p.Thr106=) c.568A= (p.Thr190=) c.388A= (p.Thr130=) c.379A= (p.Thr127=) c.472A= (p.Thr158=) c.382A= (p.Thr128=) c.427A= (p.Thr143=) | |
13 | g.101726652T>A | CA388711061 | FGF14 | c.582A>T (p.Lys194Asn) c.465A>T (p.Lys155Asn) c.*171A>T (n.*171A>T) c.*386A>T (n.*386A>T) c.*481A>T (n.*481A>T) c.315A>T (p.Lys105Asn) c.567A>T (p.Lys189Asn) c.387A>T (p.Lys129Asn) c.378A>T (p.Lys126Asn) c.471A>T (p.Lys157Asn) c.381A>T (p.Lys127Asn) c.426A>T (p.Lys142Asn) | |
13 | g.101726652T>C | CA484767564 | FGF14 | c.582A>G (p.Lys194=) c.465A>G (p.Lys155=) c.*171A>G (n.*171A>G) c.*386A>G (n.*386A>G) c.*481A>G (n.*481A>G) c.315A>G (p.Lys105=) c.567A>G (p.Lys189=) c.387A>G (p.Lys129=) c.378A>G (p.Lys126=) c.471A>G (p.Lys157=) c.381A>G (p.Lys127=) c.426A>G (p.Lys142=) | |
13 | g.101726652T>G | CA388711062 | FGF14 | c.582A>C (p.Lys194Asn) c.465A>C (p.Lys155Asn) c.*171A>C (n.*171A>C) c.*386A>C (n.*386A>C) c.*481A>C (n.*481A>C) c.315A>C (p.Lys105Asn) c.567A>C (p.Lys189Asn) c.387A>C (p.Lys129Asn) c.378A>C (p.Lys126Asn) c.471A>C (p.Lys157Asn) c.381A>C (p.Lys127Asn) c.426A>C (p.Lys142Asn) | |
13 | g.101726653T>A | CA388711063 | FGF14 | c.581A>T (p.Lys194Ile) c.464A>T (p.Lys155Ile) c.*170A>T (n.*170A>T) c.*385A>T (n.*385A>T) c.*480A>T (n.*480A>T) c.314A>T (p.Lys105Ile) c.566A>T (p.Lys189Ile) c.386A>T (p.Lys129Ile) c.377A>T (p.Lys126Ile) c.470A>T (p.Lys157Ile) c.380A>T (p.Lys127Ile) c.425A>T (p.Lys142Ile) | |
13 | g.101726653T>C | CA388711065 | FGF14 | c.581A>G (p.Lys194Arg) c.464A>G (p.Lys155Arg) c.*170A>G (n.*170A>G) c.*385A>G (n.*385A>G) c.*480A>G (n.*480A>G) c.314A>G (p.Lys105Arg) c.566A>G (p.Lys189Arg) c.386A>G (p.Lys129Arg) c.377A>G (p.Lys126Arg) c.470A>G (p.Lys157Arg) c.380A>G (p.Lys127Arg) c.425A>G (p.Lys142Arg) | gnomAD v4 |
13 | g.101726653T>G | CA388711064 | FGF14 | c.581A>C (p.Lys194Thr) c.464A>C (p.Lys155Thr) c.*170A>C (n.*170A>C) c.*385A>C (n.*385A>C) c.*480A>C (n.*480A>C) c.314A>C (p.Lys105Thr) c.566A>C (p.Lys189Thr) c.386A>C (p.Lys129Thr) c.377A>C (p.Lys126Thr) c.470A>C (p.Lys157Thr) c.380A>C (p.Lys127Thr) c.425A>C (p.Lys142Thr) | |
13 | g.101726654T>A | CA388711066 | FGF14 | c.580A>T (p.Lys194Ter) c.463A>T (p.Lys155Ter) c.*169A>T (n.*169A>T) c.*384A>T (n.*384A>T) c.*479A>T (n.*479A>T) c.313A>T (p.Lys105Ter) c.565A>T (p.Lys189Ter) c.385A>T (p.Lys129Ter) c.376A>T (p.Lys126Ter) c.469A>T (p.Lys157Ter) c.379A>T (p.Lys127Ter) c.424A>T (p.Lys142Ter) | |
13 | g.101726654T>C | CA388711067 | FGF14 | c.580A>G (p.Lys194Glu) c.463A>G (p.Lys155Glu) c.*169A>G (n.*169A>G) c.*384A>G (n.*384A>G) c.*479A>G (n.*479A>G) c.313A>G (p.Lys105Glu) c.565A>G (p.Lys189Glu) c.385A>G (p.Lys129Glu) c.376A>G (p.Lys126Glu) c.469A>G (p.Lys157Glu) c.379A>G (p.Lys127Glu) c.424A>G (p.Lys142Glu) | |
13 | g.101726654T>G | CA388711068 | FGF14 | c.580A>C (p.Lys194Gln) c.463A>C (p.Lys155Gln) c.*169A>C (n.*169A>C) c.*384A>C (n.*384A>C) c.*479A>C (n.*479A>C) c.313A>C (p.Lys105Gln) c.565A>C (p.Lys189Gln) c.385A>C (p.Lys129Gln) c.376A>C (p.Lys126Gln) c.469A>C (p.Lys157Gln) c.379A>C (p.Lys127Gln) c.424A>C (p.Lys142Gln) | |
13 | g.101726654_101726655delinsTC | CA2114682712 | FGF14 | c.579_580delinsGA (p.Lys193=) c.462_463delinsGA (p.Lys154=) c.*168_*169delinsGA (n.*168_*169delinsGA) c.*383_*384delinsGA (n.*383_*384delinsGA) c.*478_*479delinsGA (n.*478_*479delinsGA) c.312_313delinsGA (p.Lys104=) c.564_565delinsGA (p.Lys188=) c.384_385delinsGA (p.Lys128=) c.375_376delinsGA (p.Lys125=) c.468_469delinsGA (p.Lys156=) c.378_379delinsGA (p.Lys126=) c.423_424delinsGA (p.Lys141=) | |
13 | g.101726655del | CA1139663075 | FGF14 | c.579del (p.Thr195ProfsTer?) c.462del (p.Thr156ProfsTer?) c.*168del (n.*168del) c.*383del (n.*383del) c.*478del (n.*478del) c.312del (p.Thr106ProfsTer?) c.564del (p.Thr190ProfsTer?) c.384del (p.Thr130ProfsTer?) c.375del (p.Thr127ProfsTer?) c.468del (p.Thr158ProfsTer?) c.378del (p.Thr128ProfsTer?) c.423del (p.Thr143ProfsTer?) | ClinVar dbSNP |
13 | g.101726655C>A | CA388711069 | FGF14 | c.579G>T (p.Lys193Asn) c.462G>T (p.Lys154Asn) c.*168G>T (n.*168G>T) c.*383G>T (n.*383G>T) c.*478G>T (n.*478G>T) c.312G>T (p.Lys104Asn) c.564G>T (p.Lys188Asn) c.384G>T (p.Lys128Asn) c.375G>T (p.Lys125Asn) c.468G>T (p.Lys156Asn) c.378G>T (p.Lys126Asn) c.423G>T (p.Lys141Asn) | COSMIC COSMIC |
13 | g.101726655C= | CA2114682718 | FGF14 | c.579G= (p.Lys193=) c.462G= (p.Lys154=) c.*168G= (n.*168G=) c.*383G= (n.*383G=) c.*478G= (n.*478G=) c.312G= (p.Lys104=) c.564G= (p.Lys188=) c.384G= (p.Lys128=) c.375G= (p.Lys125=) c.468G= (p.Lys156=) c.378G= (p.Lys126=) c.423G= (p.Lys141=) | |
13 | g.101726655C>G | CA388711070 | FGF14 | c.579G>C (p.Lys193Asn) c.462G>C (p.Lys154Asn) c.*168G>C (n.*168G>C) c.*383G>C (n.*383G>C) c.*478G>C (n.*478G>C) c.312G>C (p.Lys104Asn) c.564G>C (p.Lys188Asn) c.384G>C (p.Lys128Asn) c.375G>C (p.Lys125Asn) c.468G>C (p.Lys156Asn) c.378G>C (p.Lys126Asn) c.423G>C (p.Lys141Asn) | |
13 | g.101726655C>T | CA7037141 | FGF14 | c.579G>A (p.Lys193=) c.462G>A (p.Lys154=) c.*168G>A (n.*168G>A) c.*383G>A (n.*383G>A) c.*478G>A (n.*478G>A) c.312G>A (p.Lys104=) c.564G>A (p.Lys188=) c.384G>A (p.Lys128=) c.375G>A (p.Lys125=) c.468G>A (p.Lys156=) c.378G>A (p.Lys126=) c.423G>A (p.Lys141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726656T>A | CA388711071 | FGF14 | c.578A>T (p.Lys193Met) c.461A>T (p.Lys154Met) c.*167A>T (n.*167A>T) c.*382A>T (n.*382A>T) c.*477A>T (n.*477A>T) c.311A>T (p.Lys104Met) c.563A>T (p.Lys188Met) c.383A>T (p.Lys128Met) c.374A>T (p.Lys125Met) c.467A>T (p.Lys156Met) c.377A>T (p.Lys126Met) c.422A>T (p.Lys141Met) | |
13 | g.101726656T>C | CA7037142 | FGF14 | c.578A>G (p.Lys193Arg) c.461A>G (p.Lys154Arg) c.*167A>G (n.*167A>G) c.*382A>G (n.*382A>G) c.*477A>G (n.*477A>G) c.311A>G (p.Lys104Arg) c.563A>G (p.Lys188Arg) c.383A>G (p.Lys128Arg) c.374A>G (p.Lys125Arg) c.467A>G (p.Lys156Arg) c.377A>G (p.Lys126Arg) c.422A>G (p.Lys141Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726656T>G | CA388711072 | FGF14 | c.578A>C (p.Lys193Thr) c.461A>C (p.Lys154Thr) c.*167A>C (n.*167A>C) c.*382A>C (n.*382A>C) c.*477A>C (n.*477A>C) c.311A>C (p.Lys104Thr) c.563A>C (p.Lys188Thr) c.383A>C (p.Lys128Thr) c.374A>C (p.Lys125Thr) c.467A>C (p.Lys156Thr) c.377A>C (p.Lys126Thr) c.422A>C (p.Lys141Thr) | |
13 | g.101726656T= | CA2114682723 | FGF14 | c.578A= (p.Lys193=) c.461A= (p.Lys154=) c.*167A= (n.*167A=) c.*382A= (n.*382A=) c.*477A= (n.*477A=) c.311A= (p.Lys104=) c.563A= (p.Lys188=) c.383A= (p.Lys128=) c.374A= (p.Lys125=) c.467A= (p.Lys156=) c.377A= (p.Lys126=) c.422A= (p.Lys141=) | |
13 | g.101726657T>A | CA388711073 | FGF14 | c.577A>T (p.Lys193Ter) c.460A>T (p.Lys154Ter) c.*166A>T (n.*166A>T) c.*381A>T (n.*381A>T) c.*476A>T (n.*476A>T) c.310A>T (p.Lys104Ter) c.562A>T (p.Lys188Ter) c.382A>T (p.Lys128Ter) c.373A>T (p.Lys125Ter) c.466A>T (p.Lys156Ter) c.376A>T (p.Lys126Ter) c.421A>T (p.Lys141Ter) | |
13 | g.101726657T>C | CA388711074 | FGF14 | c.577A>G (p.Lys193Glu) c.460A>G (p.Lys154Glu) c.*166A>G (n.*166A>G) c.*381A>G (n.*381A>G) c.*476A>G (n.*476A>G) c.310A>G (p.Lys104Glu) c.562A>G (p.Lys188Glu) c.382A>G (p.Lys128Glu) c.373A>G (p.Lys125Glu) c.466A>G (p.Lys156Glu) c.376A>G (p.Lys126Glu) c.421A>G (p.Lys141Glu) | |
13 | g.101726657T>G | CA388711075 | FGF14 | c.577A>C (p.Lys193Gln) c.460A>C (p.Lys154Gln) c.*166A>C (n.*166A>C) c.*381A>C (n.*381A>C) c.*476A>C (n.*476A>C) c.310A>C (p.Lys104Gln) c.562A>C (p.Lys188Gln) c.382A>C (p.Lys128Gln) c.373A>C (p.Lys125Gln) c.466A>C (p.Lys156Gln) c.376A>C (p.Lys126Gln) c.421A>C (p.Lys141Gln) | |
13 | g.101726658T>A | CA484767565 | FGF14 | c.576A>T (p.Val192=) c.459A>T (p.Val153=) c.*165A>T (n.*165A>T) c.*380A>T (n.*380A>T) c.*475A>T (n.*475A>T) c.309A>T (p.Val103=) c.561A>T (p.Val187=) c.381A>T (p.Val127=) c.372A>T (p.Val124=) c.465A>T (p.Val155=) c.375A>T (p.Val125=) c.420A>T (p.Val140=) | |
13 | g.101726658T>C | CA484767567 | FGF14 | c.576A>G (p.Val192=) c.459A>G (p.Val153=) c.*165A>G (n.*165A>G) c.*380A>G (n.*380A>G) c.*475A>G (n.*475A>G) c.309A>G (p.Val103=) c.561A>G (p.Val187=) c.381A>G (p.Val127=) c.372A>G (p.Val124=) c.465A>G (p.Val155=) c.375A>G (p.Val125=) c.420A>G (p.Val140=) | |
13 | g.101726658T>G | CA484767566 | FGF14 | c.576A>C (p.Val192=) c.459A>C (p.Val153=) c.*165A>C (n.*165A>C) c.*380A>C (n.*380A>C) c.*475A>C (n.*475A>C) c.309A>C (p.Val103=) c.561A>C (p.Val187=) c.381A>C (p.Val127=) c.372A>C (p.Val124=) c.465A>C (p.Val155=) c.375A>C (p.Val125=) c.420A>C (p.Val140=) | |
13 | g.101726659A= | CA2114682727 | FGF14 | c.575T= (p.Val192=) c.458T= (p.Val153=) c.*164T= (n.*164T=) c.*379T= (n.*379T=) c.*474T= (n.*474T=) c.308T= (p.Val103=) c.560T= (p.Val187=) c.380T= (p.Val127=) c.371T= (p.Val124=) c.464T= (p.Val155=) c.374T= (p.Val125=) c.419T= (p.Val140=) | |
13 | g.101726659A>C | CA388711078 | FGF14 | c.575T>G (p.Val192Gly) c.458T>G (p.Val153Gly) c.*164T>G (n.*164T>G) c.*379T>G (n.*379T>G) c.*474T>G (n.*474T>G) c.308T>G (p.Val103Gly) c.560T>G (p.Val187Gly) c.380T>G (p.Val127Gly) c.371T>G (p.Val124Gly) c.464T>G (p.Val155Gly) c.374T>G (p.Val125Gly) c.419T>G (p.Val140Gly) | |
13 | g.101726659A>G | CA388711077 | FGF14 | c.575T>C (p.Val192Ala) c.458T>C (p.Val153Ala) c.*164T>C (n.*164T>C) c.*379T>C (n.*379T>C) c.*474T>C (n.*474T>C) c.308T>C (p.Val103Ala) c.560T>C (p.Val187Ala) c.380T>C (p.Val127Ala) c.371T>C (p.Val124Ala) c.464T>C (p.Val155Ala) c.374T>C (p.Val125Ala) c.419T>C (p.Val140Ala) | |
13 | g.101726659A>T | CA388711076 | FGF14 | c.575T>A (p.Val192Glu) c.458T>A (p.Val153Glu) c.*164T>A (n.*164T>A) c.*379T>A (n.*379T>A) c.*474T>A (n.*474T>A) c.308T>A (p.Val103Glu) c.560T>A (p.Val187Glu) c.380T>A (p.Val127Glu) c.371T>A (p.Val124Glu) c.464T>A (p.Val155Glu) c.374T>A (p.Val125Glu) c.419T>A (p.Val140Glu) | dbSNP |
13 | g.101726660C>A | CA388711079 | FGF14 | c.574G>T (p.Val192Leu) c.457G>T (p.Val153Leu) c.*163G>T (n.*163G>T) c.*378G>T (n.*378G>T) c.*473G>T (n.*473G>T) c.307G>T (p.Val103Leu) c.559G>T (p.Val187Leu) c.379G>T (p.Val127Leu) c.370G>T (p.Val124Leu) c.463G>T (p.Val155Leu) c.373G>T (p.Val125Leu) c.418G>T (p.Val140Leu) | |
13 | g.101726660C= | CA2114682730 | FGF14 | c.574G= (p.Val192=) c.457G= (p.Val153=) c.*163G= (n.*163G=) c.*378G= (n.*378G=) c.*473G= (n.*473G=) c.307G= (p.Val103=) c.559G= (p.Val187=) c.379G= (p.Val127=) c.370G= (p.Val124=) c.463G= (p.Val155=) c.373G= (p.Val125=) c.418G= (p.Val140=) | |
13 | g.101726660C>G | CA388711080 | FGF14 | c.574G>C (p.Val192Leu) c.457G>C (p.Val153Leu) c.*163G>C (n.*163G>C) c.*378G>C (n.*378G>C) c.*473G>C (n.*473G>C) c.307G>C (p.Val103Leu) c.559G>C (p.Val187Leu) c.379G>C (p.Val127Leu) c.370G>C (p.Val124Leu) c.463G>C (p.Val155Leu) c.373G>C (p.Val125Leu) c.418G>C (p.Val140Leu) | |
13 | g.101726660C>T | CA388711081 | FGF14 | c.574G>A (p.Val192Ile) c.457G>A (p.Val153Ile) c.*163G>A (n.*163G>A) c.*378G>A (n.*378G>A) c.*473G>A (n.*473G>A) c.307G>A (p.Val103Ile) c.559G>A (p.Val187Ile) c.379G>A (p.Val127Ile) c.370G>A (p.Val124Ile) c.463G>A (p.Val155Ile) c.373G>A (p.Val125Ile) c.418G>A (p.Val140Ile) | dbSNP |
13 | g.101726661T>A | CA388711082 | FGF14 | c.573A>T (p.Arg191Ser) c.456A>T (p.Arg152Ser) c.*162A>T (n.*162A>T) c.*377A>T (n.*377A>T) c.*472A>T (n.*472A>T) c.306A>T (p.Arg102Ser) c.558A>T (p.Arg186Ser) c.378A>T (p.Arg126Ser) c.369A>T (p.Arg123Ser) c.462A>T (p.Arg154Ser) c.372A>T (p.Arg124Ser) c.417A>T (p.Arg139Ser) | |
13 | g.101726661T>C | CA484767568 | FGF14 | c.573A>G (p.Arg191=) c.456A>G (p.Arg152=) c.*162A>G (n.*162A>G) c.*377A>G (n.*377A>G) c.*472A>G (n.*472A>G) c.306A>G (p.Arg102=) c.558A>G (p.Arg186=) c.378A>G (p.Arg126=) c.369A>G (p.Arg123=) c.462A>G (p.Arg154=) c.372A>G (p.Arg124=) c.417A>G (p.Arg139=) | |
13 | g.101726661T>G | CA388711083 | FGF14 | c.573A>C (p.Arg191Ser) c.456A>C (p.Arg152Ser) c.*162A>C (n.*162A>C) c.*377A>C (n.*377A>C) c.*472A>C (n.*472A>C) c.306A>C (p.Arg102Ser) c.558A>C (p.Arg186Ser) c.378A>C (p.Arg126Ser) c.369A>C (p.Arg123Ser) c.462A>C (p.Arg154Ser) c.372A>C (p.Arg124Ser) c.417A>C (p.Arg139Ser) | |
13 | g.101726662C>A | CA388711084 | FGF14 | c.572G>T (p.Arg191Ile) c.455G>T (p.Arg152Ile) c.*161G>T (n.*161G>T) c.*376G>T (n.*376G>T) c.*471G>T (n.*471G>T) c.305G>T (p.Arg102Ile) c.557G>T (p.Arg186Ile) c.377G>T (p.Arg126Ile) c.368G>T (p.Arg123Ile) c.461G>T (p.Arg154Ile) c.371G>T (p.Arg124Ile) c.416G>T (p.Arg139Ile) | |
13 | g.101726662C>G | CA388711085 | FGF14 | c.572G>C (p.Arg191Thr) c.455G>C (p.Arg152Thr) c.*161G>C (n.*161G>C) c.*376G>C (n.*376G>C) c.*471G>C (n.*471G>C) c.305G>C (p.Arg102Thr) c.557G>C (p.Arg186Thr) c.377G>C (p.Arg126Thr) c.368G>C (p.Arg123Thr) c.461G>C (p.Arg154Thr) c.371G>C (p.Arg124Thr) c.416G>C (p.Arg139Thr) | |
13 | g.101726662C>T | CA388711086 | FGF14 | c.572G>A (p.Arg191Lys) c.455G>A (p.Arg152Lys) c.*161G>A (n.*161G>A) c.*376G>A (n.*376G>A) c.*471G>A (n.*471G>A) c.305G>A (p.Arg102Lys) c.557G>A (p.Arg186Lys) c.377G>A (p.Arg126Lys) c.368G>A (p.Arg123Lys) c.461G>A (p.Arg154Lys) c.371G>A (p.Arg124Lys) c.416G>A (p.Arg139Lys) | |
13 | g.101726663T>A | CA388711087 | FGF14 | c.571A>T (p.Arg191Ter) c.454A>T (p.Arg152Ter) c.*160A>T (n.*160A>T) c.*375A>T (n.*375A>T) c.*470A>T (n.*470A>T) c.304A>T (p.Arg102Ter) c.556A>T (p.Arg186Ter) c.376A>T (p.Arg126Ter) c.367A>T (p.Arg123Ter) c.460A>T (p.Arg154Ter) c.370A>T (p.Arg124Ter) c.415A>T (p.Arg139Ter) | ClinVar dbSNP |
13 | g.101726663T>C | CA388711088 | FGF14 | c.571A>G (p.Arg191Gly) c.454A>G (p.Arg152Gly) c.*160A>G (n.*160A>G) c.*375A>G (n.*375A>G) c.*470A>G (n.*470A>G) c.304A>G (p.Arg102Gly) c.556A>G (p.Arg186Gly) c.376A>G (p.Arg126Gly) c.367A>G (p.Arg123Gly) c.460A>G (p.Arg154Gly) c.370A>G (p.Arg124Gly) c.415A>G (p.Arg139Gly) | |
13 | g.101726663T>G | CA484767569 | FGF14 | c.571A>C (p.Arg191=) c.454A>C (p.Arg152=) c.*160A>C (n.*160A>C) c.*375A>C (n.*375A>C) c.*470A>C (n.*470A>C) c.304A>C (p.Arg102=) c.556A>C (p.Arg186=) c.376A>C (p.Arg126=) c.367A>C (p.Arg123=) c.460A>C (p.Arg154=) c.370A>C (p.Arg124=) c.415A>C (p.Arg139=) | |
13 | g.101726663T= | CA2114682734 | FGF14 | c.571A= (p.Arg191=) c.454A= (p.Arg152=) c.*160A= (n.*160A=) c.*375A= (n.*375A=) c.*470A= (n.*470A=) c.304A= (p.Arg102=) c.556A= (p.Arg186=) c.376A= (p.Arg126=) c.367A= (p.Arg123=) c.460A= (p.Arg154=) c.370A= (p.Arg124=) c.415A= (p.Arg139=) | |
13 | g.101726664G>A | CA484767570 | FGF14 | c.570C>T (p.Asn190=) c.453C>T (p.Asn151=) c.*159C>T (n.*159C>T) c.*374C>T (n.*374C>T) c.*469C>T (n.*469C>T) c.303C>T (p.Asn101=) c.555C>T (p.Asn185=) c.375C>T (p.Asn125=) c.366C>T (p.Asn122=) c.459C>T (p.Asn153=) c.369C>T (p.Asn123=) c.414C>T (p.Asn138=) | |
13 | g.101726664G>C | CA388711089 | FGF14 | c.570C>G (p.Asn190Lys) c.453C>G (p.Asn151Lys) c.*159C>G (n.*159C>G) c.*374C>G (n.*374C>G) c.*469C>G (n.*469C>G) c.303C>G (p.Asn101Lys) c.555C>G (p.Asn185Lys) c.375C>G (p.Asn125Lys) c.366C>G (p.Asn122Lys) c.459C>G (p.Asn153Lys) c.369C>G (p.Asn123Lys) c.414C>G (p.Asn138Lys) | |
13 | g.101726664G>T | CA388711090 | FGF14 | c.570C>A (p.Asn190Lys) c.453C>A (p.Asn151Lys) c.*159C>A (n.*159C>A) c.*374C>A (n.*374C>A) c.*469C>A (n.*469C>A) c.303C>A (p.Asn101Lys) c.555C>A (p.Asn185Lys) c.375C>A (p.Asn125Lys) c.366C>A (p.Asn122Lys) c.459C>A (p.Asn153Lys) c.369C>A (p.Asn123Lys) c.414C>A (p.Asn138Lys) | |
13 | g.101726665T>A | CA388711093 | FGF14 | c.569A>T (p.Asn190Ile) c.452A>T (p.Asn151Ile) c.*158A>T (n.*158A>T) c.*373A>T (n.*373A>T) c.*468A>T (n.*468A>T) c.302A>T (p.Asn101Ile) c.554A>T (p.Asn185Ile) c.374A>T (p.Asn125Ile) c.365A>T (p.Asn122Ile) c.458A>T (p.Asn153Ile) c.368A>T (p.Asn123Ile) c.413A>T (p.Asn138Ile) | |
13 | g.101726665T>C | CA388711092 | FGF14 | c.569A>G (p.Asn190Ser) c.452A>G (p.Asn151Ser) c.*158A>G (n.*158A>G) c.*373A>G (n.*373A>G) c.*468A>G (n.*468A>G) c.302A>G (p.Asn101Ser) c.554A>G (p.Asn185Ser) c.374A>G (p.Asn125Ser) c.365A>G (p.Asn122Ser) c.458A>G (p.Asn153Ser) c.368A>G (p.Asn123Ser) c.413A>G (p.Asn138Ser) | gnomAD v4 |
13 | g.101726665T>G | CA388711091 | FGF14 | c.569A>C (p.Asn190Thr) c.452A>C (p.Asn151Thr) c.*158A>C (n.*158A>C) c.*373A>C (n.*373A>C) c.*468A>C (n.*468A>C) c.302A>C (p.Asn101Thr) c.554A>C (p.Asn185Thr) c.374A>C (p.Asn125Thr) c.365A>C (p.Asn122Thr) c.458A>C (p.Asn153Thr) c.368A>C (p.Asn123Thr) c.413A>C (p.Asn138Thr) | |
13 | g.101726666T>A | CA388711094 | FGF14 | c.568A>T (p.Asn190Tyr) c.451A>T (p.Asn151Tyr) c.*157A>T (n.*157A>T) c.*372A>T (n.*372A>T) c.*467A>T (n.*467A>T) c.301A>T (p.Asn101Tyr) c.553A>T (p.Asn185Tyr) c.373A>T (p.Asn125Tyr) c.364A>T (p.Asn122Tyr) c.457A>T (p.Asn153Tyr) c.367A>T (p.Asn123Tyr) c.412A>T (p.Asn138Tyr) | |
13 | g.101726666T>C | CA388711096 | FGF14 | c.568A>G (p.Asn190Asp) c.451A>G (p.Asn151Asp) c.*157A>G (n.*157A>G) c.*372A>G (n.*372A>G) c.*467A>G (n.*467A>G) c.301A>G (p.Asn101Asp) c.553A>G (p.Asn185Asp) c.373A>G (p.Asn125Asp) c.364A>G (p.Asn122Asp) c.457A>G (p.Asn153Asp) c.367A>G (p.Asn123Asp) c.412A>G (p.Asn138Asp) | |
13 | g.101726666T>G | CA388711095 | FGF14 | c.568A>C (p.Asn190His) c.451A>C (p.Asn151His) c.*157A>C (n.*157A>C) c.*372A>C (n.*372A>C) c.*467A>C (n.*467A>C) c.301A>C (p.Asn101His) c.553A>C (p.Asn185His) c.373A>C (p.Asn125His) c.364A>C (p.Asn122His) c.457A>C (p.Asn153His) c.367A>C (p.Asn123His) c.412A>C (p.Asn138His) | |
13 | g.101726667C>A | CA484767573 | FGF14 | c.567G>T (p.Gly189=) c.450G>T (p.Gly150=) c.*156G>T (n.*156G>T) c.*371G>T (n.*371G>T) c.*466G>T (n.*466G>T) c.300G>T (p.Gly100=) c.552G>T (p.Gly184=) c.372G>T (p.Gly124=) c.363G>T (p.Gly121=) c.456G>T (p.Gly152=) c.366G>T (p.Gly122=) c.411G>T (p.Gly137=) | dbSNP gnomAD v2 COSMIC COSMIC |
13 | g.101726667C= | CA2114682741 | FGF14 | c.567G= (p.Gly189=) c.450G= (p.Gly150=) c.*156G= (n.*156G=) c.*371G= (n.*371G=) c.*466G= (n.*466G=) c.300G= (p.Gly100=) c.552G= (p.Gly184=) c.372G= (p.Gly124=) c.363G= (p.Gly121=) c.456G= (p.Gly152=) c.366G= (p.Gly122=) c.411G= (p.Gly137=) | |
13 | g.101726667C>G | CA484767571 | FGF14 | c.567G>C (p.Gly189=) c.450G>C (p.Gly150=) c.*156G>C (n.*156G>C) c.*371G>C (n.*371G>C) c.*466G>C (n.*466G>C) c.300G>C (p.Gly100=) c.552G>C (p.Gly184=) c.372G>C (p.Gly124=) c.363G>C (p.Gly121=) c.456G>C (p.Gly152=) c.366G>C (p.Gly122=) c.411G>C (p.Gly137=) | ClinVar dbSNP gnomAD v4 |
13 | g.101726667C>T | CA484767572 | FGF14 | c.567G>A (p.Gly189=) c.450G>A (p.Gly150=) c.*156G>A (n.*156G>A) c.*371G>A (n.*371G>A) c.*466G>A (n.*466G>A) c.300G>A (p.Gly100=) c.552G>A (p.Gly184=) c.372G>A (p.Gly124=) c.363G>A (p.Gly121=) c.456G>A (p.Gly152=) c.366G>A (p.Gly122=) c.411G>A (p.Gly137=) | dbSNP |
13 | g.101726668C>A | CA388711097 | FGF14 | c.566G>T (p.Gly189Val) c.449G>T (p.Gly150Val) c.*155G>T (n.*155G>T) c.*370G>T (n.*370G>T) c.*465G>T (n.*465G>T) c.299G>T (p.Gly100Val) c.551G>T (p.Gly184Val) c.371G>T (p.Gly124Val) c.362G>T (p.Gly121Val) c.455G>T (p.Gly152Val) c.365G>T (p.Gly122Val) c.410G>T (p.Gly137Val) | |
13 | g.101726668C>G | CA388711099 | FGF14 | c.566G>C (p.Gly189Ala) c.449G>C (p.Gly150Ala) c.*155G>C (n.*155G>C) c.*370G>C (n.*370G>C) c.*465G>C (n.*465G>C) c.299G>C (p.Gly100Ala) c.551G>C (p.Gly184Ala) c.371G>C (p.Gly124Ala) c.362G>C (p.Gly121Ala) c.455G>C (p.Gly152Ala) c.365G>C (p.Gly122Ala) c.410G>C (p.Gly137Ala) | |
13 | g.101726668C>T | CA388711098 | FGF14 | c.566G>A (p.Gly189Glu) c.449G>A (p.Gly150Glu) c.*155G>A (n.*155G>A) c.*370G>A (n.*370G>A) c.*465G>A (n.*465G>A) c.299G>A (p.Gly100Glu) c.551G>A (p.Gly184Glu) c.371G>A (p.Gly124Glu) c.362G>A (p.Gly121Glu) c.455G>A (p.Gly152Glu) c.365G>A (p.Gly122Glu) c.410G>A (p.Gly137Glu) | COSMIC COSMIC |
13 | g.101726669C>A | CA388711100 | FGF14 | c.565G>T (p.Gly189Trp) c.448G>T (p.Gly150Trp) c.*154G>T (n.*154G>T) c.*369G>T (n.*369G>T) c.*464G>T (n.*464G>T) c.298G>T (p.Gly100Trp) c.550G>T (p.Gly184Trp) c.370G>T (p.Gly124Trp) c.361G>T (p.Gly121Trp) c.454G>T (p.Gly152Trp) c.364G>T (p.Gly122Trp) c.409G>T (p.Gly137Trp) | |
13 | g.101726669C>G | CA388711102 | FGF14 | c.565G>C (p.Gly189Arg) c.448G>C (p.Gly150Arg) c.*154G>C (n.*154G>C) c.*369G>C (n.*369G>C) c.*464G>C (n.*464G>C) c.298G>C (p.Gly100Arg) c.550G>C (p.Gly184Arg) c.370G>C (p.Gly124Arg) c.361G>C (p.Gly121Arg) c.454G>C (p.Gly152Arg) c.364G>C (p.Gly122Arg) c.409G>C (p.Gly137Arg) | |
13 | g.101726669C>T | CA388711101 | FGF14 | c.565G>A (p.Gly189Arg) c.448G>A (p.Gly150Arg) c.*154G>A (n.*154G>A) c.*369G>A (n.*369G>A) c.*464G>A (n.*464G>A) c.298G>A (p.Gly100Arg) c.550G>A (p.Gly184Arg) c.370G>A (p.Gly124Arg) c.361G>A (p.Gly121Arg) c.454G>A (p.Gly152Arg) c.364G>A (p.Gly122Arg) c.409G>A (p.Gly137Arg) | dbSNP |
13 | g.101726670T>A | CA388711103 | FGF14 | c.564A>T (p.Lys188Asn) c.447A>T (p.Lys149Asn) c.*153A>T (n.*153A>T) c.*368A>T (n.*368A>T) c.*463A>T (n.*463A>T) c.297A>T (p.Lys99Asn) c.549A>T (p.Lys183Asn) c.369A>T (p.Lys123Asn) c.360A>T (p.Lys120Asn) c.453A>T (p.Lys151Asn) c.363A>T (p.Lys121Asn) c.408A>T (p.Lys136Asn) | |
13 | g.101726670T>C | CA484767574 | FGF14 | c.564A>G (p.Lys188=) c.447A>G (p.Lys149=) c.*153A>G (n.*153A>G) c.*368A>G (n.*368A>G) c.*463A>G (n.*463A>G) c.297A>G (p.Lys99=) c.549A>G (p.Lys183=) c.369A>G (p.Lys123=) c.360A>G (p.Lys120=) c.453A>G (p.Lys151=) c.363A>G (p.Lys121=) c.408A>G (p.Lys136=) | |
13 | g.101726670T>G | CA388711104 | FGF14 | c.564A>C (p.Lys188Asn) c.447A>C (p.Lys149Asn) c.*153A>C (n.*153A>C) c.*368A>C (n.*368A>C) c.*463A>C (n.*463A>C) c.297A>C (p.Lys99Asn) c.549A>C (p.Lys183Asn) c.369A>C (p.Lys123Asn) c.360A>C (p.Lys120Asn) c.453A>C (p.Lys151Asn) c.363A>C (p.Lys121Asn) c.408A>C (p.Lys136Asn) | |
13 | g.101726671T>A | CA388711105 | FGF14 | c.563A>T (p.Lys188Ile) c.446A>T (p.Lys149Ile) c.*152A>T (n.*152A>T) c.*367A>T (n.*367A>T) c.*462A>T (n.*462A>T) c.296A>T (p.Lys99Ile) c.548A>T (p.Lys183Ile) c.368A>T (p.Lys123Ile) c.359A>T (p.Lys120Ile) c.452A>T (p.Lys151Ile) c.362A>T (p.Lys121Ile) c.407A>T (p.Lys136Ile) | |
13 | g.101726671T>C | CA388711106 | FGF14 | c.563A>G (p.Lys188Arg) c.446A>G (p.Lys149Arg) c.*152A>G (n.*152A>G) c.*367A>G (n.*367A>G) c.*462A>G (n.*462A>G) c.296A>G (p.Lys99Arg) c.548A>G (p.Lys183Arg) c.368A>G (p.Lys123Arg) c.359A>G (p.Lys120Arg) c.452A>G (p.Lys151Arg) c.362A>G (p.Lys121Arg) c.407A>G (p.Lys136Arg) | |
13 | g.101726671T>G | CA388711107 | FGF14 | c.563A>C (p.Lys188Thr) c.446A>C (p.Lys149Thr) c.*152A>C (n.*152A>C) c.*367A>C (n.*367A>C) c.*462A>C (n.*462A>C) c.296A>C (p.Lys99Thr) c.548A>C (p.Lys183Thr) c.368A>C (p.Lys123Thr) c.359A>C (p.Lys120Thr) c.452A>C (p.Lys151Thr) c.362A>C (p.Lys121Thr) c.407A>C (p.Lys136Thr) | |
13 | g.101726672T>A | CA388711108 | FGF14 | c.562A>T (p.Lys188Ter) c.445A>T (p.Lys149Ter) c.*151A>T (n.*151A>T) c.*366A>T (n.*366A>T) c.*461A>T (n.*461A>T) c.295A>T (p.Lys99Ter) c.547A>T (p.Lys183Ter) c.367A>T (p.Lys123Ter) c.358A>T (p.Lys120Ter) c.451A>T (p.Lys151Ter) c.361A>T (p.Lys121Ter) c.406A>T (p.Lys136Ter) | |
13 | g.101726672T>C | CA388711109 | FGF14 | c.562A>G (p.Lys188Glu) c.445A>G (p.Lys149Glu) c.*151A>G (n.*151A>G) c.*366A>G (n.*366A>G) c.*461A>G (n.*461A>G) c.295A>G (p.Lys99Glu) c.547A>G (p.Lys183Glu) c.367A>G (p.Lys123Glu) c.358A>G (p.Lys120Glu) c.451A>G (p.Lys151Glu) c.361A>G (p.Lys121Glu) c.406A>G (p.Lys136Glu) | |
13 | g.101726672T>G | CA388711110 | FGF14 | c.562A>C (p.Lys188Gln) c.445A>C (p.Lys149Gln) c.*151A>C (n.*151A>C) c.*366A>C (n.*366A>C) c.*461A>C (n.*461A>C) c.295A>C (p.Lys99Gln) c.547A>C (p.Lys183Gln) c.367A>C (p.Lys123Gln) c.358A>C (p.Lys120Gln) c.451A>C (p.Lys151Gln) c.361A>C (p.Lys121Gln) c.406A>C (p.Lys136Gln) | dbSNP gnomAD v2 |
13 | g.101726672T= | CA2114682747 | FGF14 | c.562A= (p.Lys188=) c.445A= (p.Lys149=) c.*151A= (n.*151A=) c.*366A= (n.*366A=) c.*461A= (n.*461A=) c.295A= (p.Lys99=) c.547A= (p.Lys183=) c.367A= (p.Lys123=) c.358A= (p.Lys120=) c.451A= (p.Lys151=) c.361A= (p.Lys121=) c.406A= (p.Lys136=) | |
13 | g.101726673C>A | CA388711111 | FGF14 | c.561G>T (p.Met187Ile) c.444G>T (p.Met148Ile) c.*150G>T (n.*150G>T) c.*365G>T (n.*365G>T) c.*460G>T (n.*460G>T) c.294G>T (p.Met98Ile) c.546G>T (p.Met182Ile) c.366G>T (p.Met122Ile) c.357G>T (p.Met119Ile) c.450G>T (p.Met150Ile) c.360G>T (p.Met120Ile) c.405G>T (p.Met135Ile) | |
13 | g.101726673C>G | CA388711112 | FGF14 | c.561G>C (p.Met187Ile) c.444G>C (p.Met148Ile) c.*150G>C (n.*150G>C) c.*365G>C (n.*365G>C) c.*460G>C (n.*460G>C) c.294G>C (p.Met98Ile) c.546G>C (p.Met182Ile) c.366G>C (p.Met122Ile) c.357G>C (p.Met119Ile) c.450G>C (p.Met150Ile) c.360G>C (p.Met120Ile) c.405G>C (p.Met135Ile) | COSMIC COSMIC |
13 | g.101726673C>T | CA388711113 | FGF14 | c.561G>A (p.Met187Ile) c.444G>A (p.Met148Ile) c.*150G>A (n.*150G>A) c.*365G>A (n.*365G>A) c.*460G>A (n.*460G>A) c.294G>A (p.Met98Ile) c.546G>A (p.Met182Ile) c.366G>A (p.Met122Ile) c.357G>A (p.Met119Ile) c.450G>A (p.Met150Ile) c.360G>A (p.Met120Ile) c.405G>A (p.Met135Ile) | COSMIC COSMIC |
13 | g.101726674A>C | CA388711114 | FGF14 | c.560T>G (p.Met187Arg) c.443T>G (p.Met148Arg) c.*149T>G (n.*149T>G) c.*364T>G (n.*364T>G) c.*459T>G (n.*459T>G) c.293T>G (p.Met98Arg) c.545T>G (p.Met182Arg) c.365T>G (p.Met122Arg) c.356T>G (p.Met119Arg) c.449T>G (p.Met150Arg) c.359T>G (p.Met120Arg) c.404T>G (p.Met135Arg) | |
13 | g.101726674A>G | CA388711115 | FGF14 | c.560T>C (p.Met187Thr) c.443T>C (p.Met148Thr) c.*149T>C (n.*149T>C) c.*364T>C (n.*364T>C) c.*459T>C (n.*459T>C) c.293T>C (p.Met98Thr) c.545T>C (p.Met182Thr) c.365T>C (p.Met122Thr) c.356T>C (p.Met119Thr) c.449T>C (p.Met150Thr) c.359T>C (p.Met120Thr) c.404T>C (p.Met135Thr) | |
13 | g.101726674A>T | CA388711116 | FGF14 | c.560T>A (p.Met187Lys) c.443T>A (p.Met148Lys) c.*149T>A (n.*149T>A) c.*364T>A (n.*364T>A) c.*459T>A (n.*459T>A) c.293T>A (p.Met98Lys) c.545T>A (p.Met182Lys) c.365T>A (p.Met122Lys) c.356T>A (p.Met119Lys) c.449T>A (p.Met150Lys) c.359T>A (p.Met120Lys) c.404T>A (p.Met135Lys) | |
13 | g.101726675T>A | CA388711119 | FGF14 | c.559A>T (p.Met187Leu) c.442A>T (p.Met148Leu) c.*148A>T (n.*148A>T) c.*363A>T (n.*363A>T) c.*458A>T (n.*458A>T) c.292A>T (p.Met98Leu) c.544A>T (p.Met182Leu) c.364A>T (p.Met122Leu) c.355A>T (p.Met119Leu) c.448A>T (p.Met150Leu) c.358A>T (p.Met120Leu) c.403A>T (p.Met135Leu) | |
13 | g.101726675T>C | CA388711117 | FGF14 | c.559A>G (p.Met187Val) c.442A>G (p.Met148Val) c.*148A>G (n.*148A>G) c.*363A>G (n.*363A>G) c.*458A>G (n.*458A>G) c.292A>G (p.Met98Val) c.544A>G (p.Met182Val) c.364A>G (p.Met122Val) c.355A>G (p.Met119Val) c.448A>G (p.Met150Val) c.358A>G (p.Met120Val) c.403A>G (p.Met135Val) | |
13 | g.101726675T>G | CA388711118 | FGF14 | c.559A>C (p.Met187Leu) c.442A>C (p.Met148Leu) c.*148A>C (n.*148A>C) c.*363A>C (n.*363A>C) c.*458A>C (n.*458A>C) c.292A>C (p.Met98Leu) c.544A>C (p.Met182Leu) c.364A>C (p.Met122Leu) c.355A>C (p.Met119Leu) c.448A>C (p.Met150Leu) c.358A>C (p.Met120Leu) c.403A>C (p.Met135Leu) | gnomAD v4 |
13 | g.101726676A= | CA2114682752 | FGF14 | c.558T= (p.Ala186=) c.441T= (p.Ala147=) c.*147T= (n.*147T=) c.*362T= (n.*362T=) c.*457T= (n.*457T=) c.291T= (p.Ala97=) c.543T= (p.Ala181=) c.363T= (p.Ala121=) c.354T= (p.Ala118=) c.447T= (p.Ala149=) c.357T= (p.Ala119=) c.402T= (p.Ala134=) | |
13 | g.101726676A>C | CA484767575 | FGF14 | c.558T>G (p.Ala186=) c.441T>G (p.Ala147=) c.*147T>G (n.*147T>G) c.*362T>G (n.*362T>G) c.*457T>G (n.*457T>G) c.291T>G (p.Ala97=) c.543T>G (p.Ala181=) c.363T>G (p.Ala121=) c.354T>G (p.Ala118=) c.447T>G (p.Ala149=) c.357T>G (p.Ala119=) c.402T>G (p.Ala134=) | |
13 | g.101726676A>G | CA7037143 | FGF14 | c.558T>C (p.Ala186=) c.441T>C (p.Ala147=) c.*147T>C (n.*147T>C) c.*362T>C (n.*362T>C) c.*457T>C (n.*457T>C) c.291T>C (p.Ala97=) c.543T>C (p.Ala181=) c.363T>C (p.Ala121=) c.354T>C (p.Ala118=) c.447T>C (p.Ala149=) c.357T>C (p.Ala119=) c.402T>C (p.Ala134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726676A>T | CA484767576 | FGF14 | c.558T>A (p.Ala186=) c.441T>A (p.Ala147=) c.*147T>A (n.*147T>A) c.*362T>A (n.*362T>A) c.*457T>A (n.*457T>A) c.291T>A (p.Ala97=) c.543T>A (p.Ala181=) c.363T>A (p.Ala121=) c.354T>A (p.Ala118=) c.447T>A (p.Ala149=) c.357T>A (p.Ala119=) c.402T>A (p.Ala134=) | |
13 | g.101726677G>A | CA388711120 | FGF14 | c.557C>T (p.Ala186Val) c.440C>T (p.Ala147Val) c.*146C>T (n.*146C>T) c.*361C>T (n.*361C>T) c.*456C>T (n.*456C>T) c.290C>T (p.Ala97Val) c.542C>T (p.Ala181Val) c.362C>T (p.Ala121Val) c.353C>T (p.Ala118Val) c.446C>T (p.Ala149Val) c.356C>T (p.Ala119Val) c.401C>T (p.Ala134Val) | gnomAD v4 |
13 | g.101726677G>C | CA388711121 | FGF14 | c.557C>G (p.Ala186Gly) c.440C>G (p.Ala147Gly) c.*146C>G (n.*146C>G) c.*361C>G (n.*361C>G) c.*456C>G (n.*456C>G) c.290C>G (p.Ala97Gly) c.542C>G (p.Ala181Gly) c.362C>G (p.Ala121Gly) c.353C>G (p.Ala118Gly) c.446C>G (p.Ala149Gly) c.356C>G (p.Ala119Gly) c.401C>G (p.Ala134Gly) | |
13 | g.101726677G>T | CA388711122 | FGF14 | c.557C>A (p.Ala186Asp) c.440C>A (p.Ala147Asp) c.*146C>A (n.*146C>A) c.*361C>A (n.*361C>A) c.*456C>A (n.*456C>A) c.290C>A (p.Ala97Asp) c.542C>A (p.Ala181Asp) c.362C>A (p.Ala121Asp) c.353C>A (p.Ala118Asp) c.446C>A (p.Ala149Asp) c.356C>A (p.Ala119Asp) c.401C>A (p.Ala134Asp) | |
13 | g.101726677_101726678delinsGC | CA2114682758 | FGF14 | c.556_557delinsGC (p.Ala186=) c.439_440delinsGC (p.Ala147=) c.*145_*146delinsGC (n.*145_*146delinsGC) c.*360_*361delinsGC (n.*360_*361delinsGC) c.*455_*456delinsGC (n.*455_*456delinsGC) c.289_290delinsGC (p.Ala97=) c.541_542delinsGC (p.Ala181=) c.361_362delinsGC (p.Ala121=) c.352_353delinsGC (p.Ala118=) c.445_446delinsGC (p.Ala149=) c.355_356delinsGC (p.Ala119=) c.400_401delinsGC (p.Ala134=) | |
13 | g.101726678del | CA7037144 | FGF14 | c.556del (p.Ala186LeufsTer2) c.439del (p.Ala147LeufsTer2) c.*145del (n.*145del) c.*360del (n.*360del) c.*455del (n.*455del) c.289del (p.Ala97LeufsTer2) c.541del (p.Ala181LeufsTer2) c.361del (p.Ala121LeufsTer2) c.352del (p.Ala118LeufsTer2) c.445del (p.Ala149LeufsTer2) c.355del (p.Ala119LeufsTer2) c.400del (p.Ala134LeufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726678C>A | CA388711123 | FGF14 | c.556G>T (p.Ala186Ser) c.439G>T (p.Ala147Ser) c.*145G>T (n.*145G>T) c.*360G>T (n.*360G>T) c.*455G>T (n.*455G>T) c.289G>T (p.Ala97Ser) c.541G>T (p.Ala181Ser) c.361G>T (p.Ala121Ser) c.352G>T (p.Ala118Ser) c.445G>T (p.Ala149Ser) c.355G>T (p.Ala119Ser) c.400G>T (p.Ala134Ser) | |
13 | g.101726678C>G | CA388711124 | FGF14 | c.556G>C (p.Ala186Pro) c.439G>C (p.Ala147Pro) c.*145G>C (n.*145G>C) c.*360G>C (n.*360G>C) c.*455G>C (n.*455G>C) c.289G>C (p.Ala97Pro) c.541G>C (p.Ala181Pro) c.361G>C (p.Ala121Pro) c.352G>C (p.Ala118Pro) c.445G>C (p.Ala149Pro) c.355G>C (p.Ala119Pro) c.400G>C (p.Ala134Pro) | |
13 | g.101726678C>T | CA388711125 | FGF14 | c.556G>A (p.Ala186Thr) c.439G>A (p.Ala147Thr) c.*145G>A (n.*145G>A) c.*360G>A (n.*360G>A) c.*455G>A (n.*455G>A) c.289G>A (p.Ala97Thr) c.541G>A (p.Ala181Thr) c.361G>A (p.Ala121Thr) c.352G>A (p.Ala118Thr) c.445G>A (p.Ala149Thr) c.355G>A (p.Ala119Thr) c.400G>A (p.Ala134Thr) | dbSNP |
13 | g.101726679T>A | CA388711126 | FGF14 | c.555A>T (p.Gln185His) c.438A>T (p.Gln146His) c.*144A>T (n.*144A>T) c.*359A>T (n.*359A>T) c.*454A>T (n.*454A>T) c.288A>T (p.Gln96His) c.540A>T (p.Gln180His) c.360A>T (p.Gln120His) c.351A>T (p.Gln117His) c.444A>T (p.Gln148His) c.354A>T (p.Gln118His) c.399A>T (p.Gln133His) | gnomAD v4 |
13 | g.101726679T>C | CA484767577 | FGF14 | c.555A>G (p.Gln185=) c.438A>G (p.Gln146=) c.*144A>G (n.*144A>G) c.*359A>G (n.*359A>G) c.*454A>G (n.*454A>G) c.288A>G (p.Gln96=) c.540A>G (p.Gln180=) c.360A>G (p.Gln120=) c.351A>G (p.Gln117=) c.444A>G (p.Gln148=) c.354A>G (p.Gln118=) c.399A>G (p.Gln133=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726679T>G | CA388711127 | FGF14 | c.555A>C (p.Gln185His) c.438A>C (p.Gln146His) c.*144A>C (n.*144A>C) c.*359A>C (n.*359A>C) c.*454A>C (n.*454A>C) c.288A>C (p.Gln96His) c.540A>C (p.Gln180His) c.360A>C (p.Gln120His) c.351A>C (p.Gln117His) c.444A>C (p.Gln148His) c.354A>C (p.Gln118His) c.399A>C (p.Gln133His) | |
13 | g.101726679T= | CA2114682761 | FGF14 | c.555A= (p.Gln185=) c.438A= (p.Gln146=) c.*144A= (n.*144A=) c.*359A= (n.*359A=) c.*454A= (n.*454A=) c.288A= (p.Gln96=) c.540A= (p.Gln180=) c.360A= (p.Gln120=) c.351A= (p.Gln117=) c.444A= (p.Gln148=) c.354A= (p.Gln118=) c.399A= (p.Gln133=) | |
13 | g.101726680T>A | CA388711130 | FGF14 | c.554A>T (p.Gln185Leu) c.437A>T (p.Gln146Leu) c.*143A>T (n.*143A>T) c.*358A>T (n.*358A>T) c.*453A>T (n.*453A>T) c.287A>T (p.Gln96Leu) c.539A>T (p.Gln180Leu) c.359A>T (p.Gln120Leu) c.350A>T (p.Gln117Leu) c.443A>T (p.Gln148Leu) c.353A>T (p.Gln118Leu) c.398A>T (p.Gln133Leu) | |
13 | g.101726680T>C | CA388711129 | FGF14 | c.554A>G (p.Gln185Arg) c.437A>G (p.Gln146Arg) c.*143A>G (n.*143A>G) c.*358A>G (n.*358A>G) c.*453A>G (n.*453A>G) c.287A>G (p.Gln96Arg) c.539A>G (p.Gln180Arg) c.359A>G (p.Gln120Arg) c.350A>G (p.Gln117Arg) c.443A>G (p.Gln148Arg) c.353A>G (p.Gln118Arg) c.398A>G (p.Gln133Arg) | gnomAD v4 |
13 | g.101726680T>G | CA388711128 | FGF14 | c.554A>C (p.Gln185Pro) c.437A>C (p.Gln146Pro) c.*143A>C (n.*143A>C) c.*358A>C (n.*358A>C) c.*453A>C (n.*453A>C) c.287A>C (p.Gln96Pro) c.539A>C (p.Gln180Pro) c.359A>C (p.Gln120Pro) c.350A>C (p.Gln117Pro) c.443A>C (p.Gln148Pro) c.353A>C (p.Gln118Pro) c.398A>C (p.Gln133Pro) | |
13 | g.101726681G>A | CA388711131 | FGF14 | c.553C>T (p.Gln185Ter) c.436C>T (p.Gln146Ter) c.*142C>T (n.*142C>T) c.*357C>T (n.*357C>T) c.*452C>T (n.*452C>T) c.286C>T (p.Gln96Ter) c.538C>T (p.Gln180Ter) c.358C>T (p.Gln120Ter) c.349C>T (p.Gln117Ter) c.442C>T (p.Gln148Ter) c.352C>T (p.Gln118Ter) c.397C>T (p.Gln133Ter) | |
13 | g.101726681G>C | CA388711132 | FGF14 | c.553C>G (p.Gln185Glu) c.436C>G (p.Gln146Glu) c.*142C>G (n.*142C>G) c.*357C>G (n.*357C>G) c.*452C>G (n.*452C>G) c.286C>G (p.Gln96Glu) c.538C>G (p.Gln180Glu) c.358C>G (p.Gln120Glu) c.349C>G (p.Gln117Glu) c.442C>G (p.Gln148Glu) c.352C>G (p.Gln118Glu) c.397C>G (p.Gln133Glu) | |
13 | g.101726681G= | CA2114682766 | FGF14 | c.553C= (p.Gln185=) c.436C= (p.Gln146=) c.*142C= (n.*142C=) c.*357C= (n.*357C=) c.*452C= (n.*452C=) c.286C= (p.Gln96=) c.538C= (p.Gln180=) c.358C= (p.Gln120=) c.349C= (p.Gln117=) c.442C= (p.Gln148=) c.352C= (p.Gln118=) c.397C= (p.Gln133=) | |
13 | g.101726681G>T | CA7037145 | FGF14 | c.553C>A (p.Gln185Lys) c.436C>A (p.Gln146Lys) c.*142C>A (n.*142C>A) c.*357C>A (n.*357C>A) c.*452C>A (n.*452C>A) c.286C>A (p.Gln96Lys) c.538C>A (p.Gln180Lys) c.358C>A (p.Gln120Lys) c.349C>A (p.Gln117Lys) c.442C>A (p.Gln148Lys) c.352C>A (p.Gln118Lys) c.397C>A (p.Gln133Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.101726682C>A | CA484767578 | FGF14 | c.552G>T (p.Gly184=) c.435G>T (p.Gly145=) c.*141G>T (n.*141G>T) c.*356G>T (n.*356G>T) c.*451G>T (n.*451G>T) c.285G>T (p.Gly95=) c.537G>T (p.Gly179=) c.357G>T (p.Gly119=) c.348G>T (p.Gly116=) c.441G>T (p.Gly147=) c.351G>T (p.Gly117=) c.396G>T (p.Gly132=) | |
13 | g.101726682C= | CA2114682768 | FGF14 | c.552G= (p.Gly184=) c.435G= (p.Gly145=) c.*141G= (n.*141G=) c.*356G= (n.*356G=) c.*451G= (n.*451G=) c.285G= (p.Gly95=) c.537G= (p.Gly179=) c.357G= (p.Gly119=) c.348G= (p.Gly116=) c.441G= (p.Gly147=) c.351G= (p.Gly117=) c.396G= (p.Gly132=) | |
13 | g.101726682C>G | CA484767579 | FGF14 | c.552G>C (p.Gly184=) c.435G>C (p.Gly145=) c.*141G>C (n.*141G>C) c.*356G>C (n.*356G>C) c.*451G>C (n.*451G>C) c.285G>C (p.Gly95=) c.537G>C (p.Gly179=) c.357G>C (p.Gly119=) c.348G>C (p.Gly116=) c.441G>C (p.Gly147=) c.351G>C (p.Gly117=) c.396G>C (p.Gly132=) | |
13 | g.101726682C>T | CA7037146 | FGF14 | c.552G>A (p.Gly184=) c.435G>A (p.Gly145=) c.*141G>A (n.*141G>A) c.*356G>A (n.*356G>A) c.*451G>A (n.*451G>A) c.285G>A (p.Gly95=) c.537G>A (p.Gly179=) c.357G>A (p.Gly119=) c.348G>A (p.Gly116=) c.441G>A (p.Gly147=) c.351G>A (p.Gly117=) c.396G>A (p.Gly132=) | dbSNP ExAC gnomAD v2 |
13 | g.101726683C>A | CA388711133 | FGF14 | c.551G>T (p.Gly184Val) c.434G>T (p.Gly145Val) c.*140G>T (n.*140G>T) c.*355G>T (n.*355G>T) c.*450G>T (n.*450G>T) c.284G>T (p.Gly95Val) c.536G>T (p.Gly179Val) c.356G>T (p.Gly119Val) c.347G>T (p.Gly116Val) c.440G>T (p.Gly147Val) c.350G>T (p.Gly117Val) c.395G>T (p.Gly132Val) | |
13 | g.101726683C>G | CA388711134 | FGF14 | c.551G>C (p.Gly184Ala) c.434G>C (p.Gly145Ala) c.*140G>C (n.*140G>C) c.*355G>C (n.*355G>C) c.*450G>C (n.*450G>C) c.284G>C (p.Gly95Ala) c.536G>C (p.Gly179Ala) c.356G>C (p.Gly119Ala) c.347G>C (p.Gly116Ala) c.440G>C (p.Gly147Ala) c.350G>C (p.Gly117Ala) c.395G>C (p.Gly132Ala) | |
13 | g.101726683C>T | CA388711135 | FGF14 | c.551G>A (p.Gly184Glu) c.434G>A (p.Gly145Glu) c.*140G>A (n.*140G>A) c.*355G>A (n.*355G>A) c.*450G>A (n.*450G>A) c.284G>A (p.Gly95Glu) c.536G>A (p.Gly179Glu) c.356G>A (p.Gly119Glu) c.347G>A (p.Gly116Glu) c.440G>A (p.Gly147Glu) c.350G>A (p.Gly117Glu) c.395G>A (p.Gly132Glu) | |
13 | g.101726684C>A | CA388711136 | FGF14 | c.550G>T (p.Gly184Trp) c.433G>T (p.Gly145Trp) c.*139G>T (n.*139G>T) c.*354G>T (n.*354G>T) c.*449G>T (n.*449G>T) c.283G>T (p.Gly95Trp) c.535G>T (p.Gly179Trp) c.355G>T (p.Gly119Trp) c.346G>T (p.Gly116Trp) c.439G>T (p.Gly147Trp) c.349G>T (p.Gly117Trp) c.394G>T (p.Gly132Trp) | |
13 | g.101726684C>G | CA388711137 | FGF14 | c.550G>C (p.Gly184Arg) c.433G>C (p.Gly145Arg) c.*139G>C (n.*139G>C) c.*354G>C (n.*354G>C) c.*449G>C (n.*449G>C) c.283G>C (p.Gly95Arg) c.535G>C (p.Gly179Arg) c.355G>C (p.Gly119Arg) c.346G>C (p.Gly116Arg) c.439G>C (p.Gly147Arg) c.349G>C (p.Gly117Arg) c.394G>C (p.Gly132Arg) | |
13 | g.101726684C>T | CA388711138 | FGF14 | c.550G>A (p.Gly184Arg) c.433G>A (p.Gly145Arg) c.*139G>A (n.*139G>A) c.*354G>A (n.*354G>A) c.*449G>A (n.*449G>A) c.283G>A (p.Gly95Arg) c.535G>A (p.Gly179Arg) c.355G>A (p.Gly119Arg) c.346G>A (p.Gly116Arg) c.439G>A (p.Gly147Arg) c.349G>A (p.Gly117Arg) c.394G>A (p.Gly132Arg) | gnomAD v3 gnomAD v4 |
13 | g.101726685T>A | CA388711139 | FGF14 | c.549A>T (p.Glu183Asp) c.432A>T (p.Glu144Asp) c.*138A>T (n.*138A>T) c.*353A>T (n.*353A>T) c.*448A>T (n.*448A>T) c.282A>T (p.Glu94Asp) c.534A>T (p.Glu178Asp) c.354A>T (p.Glu118Asp) c.345A>T (p.Glu115Asp) c.438A>T (p.Glu146Asp) c.348A>T (p.Glu116Asp) c.393A>T (p.Glu131Asp) | |
13 | g.101726685T>C | CA484767580 | FGF14 | c.549A>G (p.Glu183=) c.432A>G (p.Glu144=) c.*138A>G (n.*138A>G) c.*353A>G (n.*353A>G) c.*448A>G (n.*448A>G) c.282A>G (p.Glu94=) c.534A>G (p.Glu178=) c.354A>G (p.Glu118=) c.345A>G (p.Glu115=) c.438A>G (p.Glu146=) c.348A>G (p.Glu116=) c.393A>G (p.Glu131=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.101726685T>G | CA388711140 | FGF14 | c.549A>C (p.Glu183Asp) c.432A>C (p.Glu144Asp) c.*138A>C (n.*138A>C) c.*353A>C (n.*353A>C) c.*448A>C (n.*448A>C) c.282A>C (p.Glu94Asp) c.534A>C (p.Glu178Asp) c.354A>C (p.Glu118Asp) c.345A>C (p.Glu115Asp) c.438A>C (p.Glu146Asp) c.348A>C (p.Glu116Asp) c.393A>C (p.Glu131Asp) | |
13 | g.101726685T= | CA2114682770 | FGF14 | c.549A= (p.Glu183=) c.432A= (p.Glu144=) c.*138A= (n.*138A=) c.*353A= (n.*353A=) c.*448A= (n.*448A=) c.282A= (p.Glu94=) c.534A= (p.Glu178=) c.354A= (p.Glu118=) c.345A= (p.Glu115=) c.438A= (p.Glu146=) c.348A= (p.Glu116=) c.393A= (p.Glu131=) | |
13 | g.101726686T>A | CA388711143 | FGF14 | c.548A>T (p.Glu183Val) c.431A>T (p.Glu144Val) c.*137A>T (n.*137A>T) c.*352A>T (n.*352A>T) c.*447A>T (n.*447A>T) c.281A>T (p.Glu94Val) c.533A>T (p.Glu178Val) c.353A>T (p.Glu118Val) c.344A>T (p.Glu115Val) c.437A>T (p.Glu146Val) c.347A>T (p.Glu116Val) c.392A>T (p.Glu131Val) | |
13 | g.101726686T>C | CA388711141 | FGF14 | c.548A>G (p.Glu183Gly) c.431A>G (p.Glu144Gly) c.*137A>G (n.*137A>G) c.*352A>G (n.*352A>G) c.*447A>G (n.*447A>G) c.281A>G (p.Glu94Gly) c.533A>G (p.Glu178Gly) c.353A>G (p.Glu118Gly) c.344A>G (p.Glu115Gly) c.437A>G (p.Glu146Gly) c.347A>G (p.Glu116Gly) c.392A>G (p.Glu131Gly) | gnomAD v4 |
13 | g.101726686T>G | CA388711142 | FGF14 | c.548A>C (p.Glu183Ala) c.431A>C (p.Glu144Ala) c.*137A>C (n.*137A>C) c.*352A>C (n.*352A>C) c.*447A>C (n.*447A>C) c.281A>C (p.Glu94Ala) c.533A>C (p.Glu178Ala) c.353A>C (p.Glu118Ala) c.344A>C (p.Glu115Ala) c.437A>C (p.Glu146Ala) c.347A>C (p.Glu116Ala) c.392A>C (p.Glu131Ala) | |
13 | g.101726686_101726687delinsTC | CA2114682772 | FGF14 | c.547_548delinsGA (p.Glu183=) c.430_431delinsGA (p.Glu144=) c.*136_*137delinsGA (n.*136_*137delinsGA) c.*351_*352delinsGA (n.*351_*352delinsGA) c.*446_*447delinsGA (n.*446_*447delinsGA) c.280_281delinsGA (p.Glu94=) c.532_533delinsGA (p.Glu178=) c.352_353delinsGA (p.Glu118=) c.343_344delinsGA (p.Glu115=) c.436_437delinsGA (p.Glu146=) c.346_347delinsGA (p.Glu116=) c.391_392delinsGA (p.Glu131=) | |
13 | g.101726687C>A | CA388711144 | FGF14 | c.547G>T (p.Glu183Ter) c.430G>T (p.Glu144Ter) c.*136G>T (n.*136G>T) c.*351G>T (n.*351G>T) c.*446G>T (n.*446G>T) c.280G>T (p.Glu94Ter) c.532G>T (p.Glu178Ter) c.352G>T (p.Glu118Ter) c.343G>T (p.Glu115Ter) c.436G>T (p.Glu146Ter) c.346G>T (p.Glu116Ter) c.391G>T (p.Glu131Ter) | |
13 | g.101726687C= | CA2114682778 | FGF14 | c.547G= (p.Glu183=) c.430G= (p.Glu144=) c.*136G= (n.*136G=) c.*351G= (n.*351G=) c.*446G= (n.*446G=) c.280G= (p.Glu94=) c.532G= (p.Glu178=) c.352G= (p.Glu118=) c.343G= (p.Glu115=) c.436G= (p.Glu146=) c.346G= (p.Glu116=) c.391G= (p.Glu131=) | |
13 | g.101726687C>G | CA388711145 | FGF14 | c.547G>C (p.Glu183Gln) c.430G>C (p.Glu144Gln) c.*136G>C (n.*136G>C) c.*351G>C (n.*351G>C) c.*446G>C (n.*446G>C) c.280G>C (p.Glu94Gln) c.532G>C (p.Glu178Gln) c.352G>C (p.Glu118Gln) c.343G>C (p.Glu115Gln) c.436G>C (p.Glu146Gln) c.346G>C (p.Glu116Gln) c.391G>C (p.Glu131Gln) | |
13 | g.101726687C>T | CA7037147 | FGF14 | c.547G>A (p.Glu183Lys) c.430G>A (p.Glu144Lys) c.*136G>A (n.*136G>A) c.*351G>A (n.*351G>A) c.*446G>A (n.*446G>A) c.280G>A (p.Glu94Lys) c.532G>A (p.Glu178Lys) c.352G>A (p.Glu118Lys) c.343G>A (p.Glu115Lys) c.436G>A (p.Glu146Lys) c.346G>A (p.Glu116Lys) c.391G>A (p.Glu131Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.101726688del | CA2114682774 | FGF14 | c.547del (p.Glu183LysfsTer5) c.430del (p.Glu144LysfsTer5) c.*136del (n.*136del) c.*351del (n.*351del) c.*446del (n.*446del) c.280del (p.Glu94LysfsTer5) c.532del (p.Glu178LysfsTer5) c.352del (p.Glu118LysfsTer5) c.343del (p.Glu115LysfsTer5) c.436del (p.Glu146LysfsTer5) c.346del (p.Glu116LysfsTer5) c.391del (p.Glu131LysfsTer5) | dbSNP |
13 | g.101726688C>A | CA388711146 | FGF14 | c.546G>T (p.Lys182Asn) c.429G>T (p.Lys143Asn) c.*135G>T (n.*135G>T) c.*350G>T (n.*350G>T) c.*445G>T (n.*445G>T) c.279G>T (p.Lys93Asn) c.531G>T (p.Lys177Asn) c.351G>T (p.Lys117Asn) c.342G>T (p.Lys114Asn) c.435G>T (p.Lys145Asn) c.345G>T (p.Lys115Asn) c.390G>T (p.Lys130Asn) | |
13 | g.101726688C= | CA2114682783 | FGF14 | c.546G= (p.Lys182=) c.429G= (p.Lys143=) c.*135G= (n.*135G=) c.*350G= (n.*350G=) c.*445G= (n.*445G=) c.279G= (p.Lys93=) c.531G= (p.Lys177=) c.351G= (p.Lys117=) c.342G= (p.Lys114=) c.435G= (p.Lys145=) c.345G= (p.Lys115=) c.390G= (p.Lys130=) | |
13 | g.101726688C>G | CA388711147 | FGF14 | c.546G>C (p.Lys182Asn) c.429G>C (p.Lys143Asn) c.*135G>C (n.*135G>C) c.*350G>C (n.*350G>C) c.*445G>C (n.*445G>C) c.279G>C (p.Lys93Asn) c.531G>C (p.Lys177Asn) c.351G>C (p.Lys117Asn) c.342G>C (p.Lys114Asn) c.435G>C (p.Lys145Asn) c.345G>C (p.Lys115Asn) c.390G>C (p.Lys130Asn) | |
13 | g.101726688C>T | CA484767581 | FGF14 | c.546G>A (p.Lys182=) c.429G>A (p.Lys143=) c.*135G>A (n.*135G>A) c.*350G>A (n.*350G>A) c.*445G>A (n.*445G>A) c.279G>A (p.Lys93=) c.531G>A (p.Lys177=) c.351G>A (p.Lys117=) c.342G>A (p.Lys114=) c.435G>A (p.Lys145=) c.345G>A (p.Lys115=) c.390G>A (p.Lys130=) | dbSNP gnomAD v4 |
13 | g.101726689T>A | CA388711148 | FGF14 | c.545A>T (p.Lys182Met) c.428A>T (p.Lys143Met) c.*134A>T (n.*134A>T) c.*349A>T (n.*349A>T) c.*444A>T (n.*444A>T) c.278A>T (p.Lys93Met) c.530A>T (p.Lys177Met) c.350A>T (p.Lys117Met) c.341A>T (p.Lys114Met) c.434A>T (p.Lys145Met) c.344A>T (p.Lys115Met) c.389A>T (p.Lys130Met) | |
13 | g.101726689T>C | CA388711149 | FGF14 | c.545A>G (p.Lys182Arg) c.428A>G (p.Lys143Arg) c.*134A>G (n.*134A>G) c.*349A>G (n.*349A>G) c.*444A>G (n.*444A>G) c.278A>G (p.Lys93Arg) c.530A>G (p.Lys177Arg) c.350A>G (p.Lys117Arg) c.341A>G (p.Lys114Arg) c.434A>G (p.Lys145Arg) c.344A>G (p.Lys115Arg) c.389A>G (p.Lys130Arg) | gnomAD v4 |
13 | g.101726689T>G | CA388711150 | FGF14 | c.545A>C (p.Lys182Thr) c.428A>C (p.Lys143Thr) c.*134A>C (n.*134A>C) c.*349A>C (n.*349A>C) c.*444A>C (n.*444A>C) c.278A>C (p.Lys93Thr) c.530A>C (p.Lys177Thr) c.350A>C (p.Lys117Thr) c.341A>C (p.Lys114Thr) c.434A>C (p.Lys145Thr) c.344A>C (p.Lys115Thr) c.389A>C (p.Lys130Thr) | |
13 | g.101726690T>A | CA388711151 | FGF14 | c.544A>T (p.Lys182Ter) c.427A>T (p.Lys143Ter) c.*133A>T (n.*133A>T) c.*348A>T (n.*348A>T) c.*443A>T (n.*443A>T) c.277A>T (p.Lys93Ter) c.529A>T (p.Lys177Ter) c.349A>T (p.Lys117Ter) c.340A>T (p.Lys114Ter) c.433A>T (p.Lys145Ter) c.343A>T (p.Lys115Ter) c.388A>T (p.Lys130Ter) | ClinVar dbSNP |
13 | g.101726690T>C | CA388711152 | FGF14 | c.544A>G (p.Lys182Glu) c.427A>G (p.Lys143Glu) c.*133A>G (n.*133A>G) c.*348A>G (n.*348A>G) c.*443A>G (n.*443A>G) c.277A>G (p.Lys93Glu) c.529A>G (p.Lys177Glu) c.349A>G (p.Lys117Glu) c.340A>G (p.Lys114Glu) c.433A>G (p.Lys145Glu) c.343A>G (p.Lys115Glu) c.388A>G (p.Lys130Glu) | gnomAD v4 |
13 | g.101726690T>G | CA388711153 | FGF14 | c.544A>C (p.Lys182Gln) c.427A>C (p.Lys143Gln) c.*133A>C (n.*133A>C) c.*348A>C (n.*348A>C) c.*443A>C (n.*443A>C) c.277A>C (p.Lys93Gln) c.529A>C (p.Lys177Gln) c.349A>C (p.Lys117Gln) c.340A>C (p.Lys114Gln) c.433A>C (p.Lys145Gln) c.343A>C (p.Lys115Gln) c.388A>C (p.Lys130Gln) | COSMIC COSMIC |
13 | g.101726690T= | CA2114682788 | FGF14 | c.544A= (p.Lys182=) c.427A= (p.Lys143=) c.*133A= (n.*133A=) c.*348A= (n.*348A=) c.*443A= (n.*443A=) c.277A= (p.Lys93=) c.529A= (p.Lys177=) c.349A= (p.Lys117=) c.340A= (p.Lys114=) c.433A= (p.Lys145=) c.343A= (p.Lys115=) c.388A= (p.Lys130=) |