Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.101726578_101726590dupCA919345761FGF14c.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
13g.101726590A=CA2114682654FGF14c.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=)
13g.101726590A>GCA7037128FGF14c.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
13g.101726591_101726595delinsTAATGCA2114682656FGF14c.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)
13g.101726592_101726595delCA2114682657FGF14c.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
13g.101726593A=CA2114682660FGF14c.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=)
13g.101726593A>GCA7037129FGF14c.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
13g.101726594T>CCA612359425FGF14c.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
13g.101726594T=CA2114682661FGF14c.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=)
13g.101726595G>ACA2623591689FGF14c.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
13g.101726596C>ACA7037130FGF14c.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
13g.101726596C=CA2114682662FGF14c.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=)
13g.101726596C>TCA2728912642FGF14c.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
13g.101726597A>GCA2575449112FGF14c.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
13g.101726598T>CCA612359426FGF14c.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
13g.101726598T=CA2114682666FGF14c.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=)
13g.101726599G>ACA612359427FGF14c.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
13g.101726599G=CA2114682667FGF14c.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=)
13g.101726600C=CA2114682668FGF14c.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=)
13g.101726600C>GCA2623591690FGF14c.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
13g.101726600C>TCA7037132FGF14c.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
13g.101726601_101726612dupCA7037131FGF14c.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
13g.101726601A=CA2114682670FGF14c.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=)
13g.101726601A>GCA7037133FGF14c.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
13g.101726602T>ACA2511053791FGF14c.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)
13g.101726605_101726606delCA2575449113FGF14c.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
13g.101726608_101726611delCA2623591691FGF14c.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
13g.101726607C>TCA2623591692FGF14c.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
13g.101726609C>TCA484767540FGF14c.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
13g.101726610_101726611delCA2740130144FGF14c.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)
13g.101726610A>CCA388710965FGF14c.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)
13g.101726610A>GCA388710966FGF14c.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)
13g.101726610A>TCA388710967FGF14c.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)
13g.101726611C>ACA388710968FGF14c.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)
13g.101726611C>GCA388710969FGF14c.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)
13g.101726611C>TCA388710970FGF14c.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)
13g.101726612C>ACA388710971FGF14c.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
13g.101726612C>GCA388710972FGF14c.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)
13g.101726612C>TCA388710973FGF14c.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
13g.101726613T>ACA388710975FGF14c.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)
13g.101726613T>CCA484767541FGF14c.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=)
13g.101726613T>GCA388710974FGF14c.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)
13g.101726614T>ACA388710976FGF14c.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)
13g.101726614T>CCA388710978FGF14c.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)
13g.101726614T>GCA388710977FGF14c.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)
13g.101726615C>ACA388710979FGF14c.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)
13g.101726615C>GCA388710981FGF14c.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)
13g.101726615C>TCA388710980FGF14c.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
13g.101726616C>ACA388710982FGF14c.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)
13g.101726616C>GCA388710983FGF14c.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)
13g.101726616C>TCA484767542FGF14c.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
13g.101726617A>CCA388710984FGF14c.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)
13g.101726617A>GCA388710985FGF14c.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)
13g.101726617A>TCA388710986FGF14c.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)
13g.101726618A=CA2114682673FGF14c.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=)
13g.101726618A>CCA388710987FGF14c.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)
13g.101726618A>GCA7037134FGF14c.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
13g.101726618A>TCA388710988FGF14c.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)
13g.101726619T>ACA484767543FGF14c.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=)
13g.101726619T>CCA7037135FGF14c.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
13g.101726619T>GCA484767544FGF14c.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=)
13g.101726619T=CA2114682676FGF14c.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=)
13g.101726620G>ACA388710989FGF14c.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
13g.101726620G>CCA388710990FGF14c.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)
13g.101726620G>TCA388710991FGF14c.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)
13g.101726621G>ACA388710992FGF14c.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)
13g.101726621G>CCA388710994FGF14c.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)
13g.101726621G>TCA388710993FGF14c.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)
13g.101726622C>ACA388710995FGF14c.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)
13g.101726622C>GCA388710996FGF14c.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)
13g.101726622C>TCA484767545FGF14c.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=)
13g.101726623T>ACA388710997FGF14c.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)
13g.101726623T>CCA388710998FGF14c.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)
13g.101726623T>GCA388710999FGF14c.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
13g.101726624T>ACA388711000FGF14c.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)
13g.101726624T>CCA388711001FGF14c.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)
13g.101726624T>GCA388711002FGF14c.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)
13g.101726625G>ACA484767547FGF14c.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=)
13g.101726625G>CCA484767546FGF14c.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
13g.101726625G=CA2114682678FGF14c.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=)
13g.101726625G>TCA7037136FGF14c.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
13g.101726626G>ACA388711004FGF14c.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)
13g.101726626G>CCA388711005FGF14c.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)
13g.101726626G>TCA388711003FGF14c.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)
13g.101726627G>ACA388711006FGF14c.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
13g.101726627G>CCA388711007FGF14c.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)
13g.101726627G>TCA388711008FGF14c.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)
13g.101726628T>ACA484767548FGF14c.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=)
13g.101726628T>CCA7037137FGF14c.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
13g.101726628T>GCA484767549FGF14c.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
13g.101726628T=CA2114682682FGF14c.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=)
13g.101726629A>CCA388711009FGF14c.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)
13g.101726629A>GCA388711010FGF14c.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
13g.101726629A>TCA388711011FGF14c.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
13g.101726630G>ACA484767550FGF14c.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=)
13g.101726630G>CCA388711012FGF14c.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)
13g.101726630G>TCA388711013FGF14c.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)
13g.101726631A>CCA388711014FGF14c.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)
13g.101726631A>GCA484767551FGF14c.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=)
13g.101726631A>TCA388711015FGF14c.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)
13g.101726632A>CCA388711016FGF14c.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)
13g.101726632A>GCA388711017FGF14c.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)
13g.101726632A>TCA388711018FGF14c.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)
13g.101726633A>CCA388711019FGF14c.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)
13g.101726633A>GCA388711021FGF14c.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)
13g.101726633A>TCA388711020FGF14c.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)
13g.101726634A>CCA388711022FGF14c.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
13g.101726634A>GCA484767552FGF14c.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=)
13g.101726634A>TCA388711023FGF14c.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)
13g.101726635T>ACA388711024FGF14c.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
13g.101726635T>CCA388711025FGF14c.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)
13g.101726635T>GCA388711026FGF14c.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
13g.101726635T=CA2114682687FGF14c.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=)
13g.101726636G>ACA388711027FGF14c.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
13g.101726636G>CCA388711028FGF14c.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)
13g.101726636G>TCA388711029FGF14c.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)
13g.101726637A>CCA484767553FGF14c.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=)
13g.101726637A>GCA484767555FGF14c.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=)
13g.101726637A>TCA484767554FGF14c.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=)
13g.101726638G>ACA388711030FGF14c.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
13g.101726638G>CCA388711031FGF14c.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)
13g.101726638G>TCA388711032FGF14c.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)
13g.101726639C>ACA388711035FGF14c.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)
13g.101726639C>GCA388711034FGF14c.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)
13g.101726639C>TCA388711033FGF14c.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
13g.101726640T>ACA7037138FGF14c.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
13g.101726640T>CCA7037139FGF14c.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
13g.101726640T>GCA484767556FGF14c.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=)
13g.101726640T=CA2114682694FGF14c.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=)
13g.101726641G>ACA388711036FGF14c.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
13g.101726641G>CCA388711037FGF14c.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
13g.101726641G>TCA388711038FGF14c.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
13g.101726642C>ACA388711039FGF14c.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)
13g.101726642C>GCA388711040FGF14c.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)
13g.101726642C>TCA388711041FGF14c.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
13g.101726643T>ACA484767557FGF14c.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=)
13g.101726643T>CCA484767558FGF14c.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=)
13g.101726643T>GCA484767559FGF14c.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
13g.101726644G>ACA388711042FGF14c.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
13g.101726644G>CCA388711043FGF14c.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)
13g.101726644G>TCA388711044FGF14c.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
13g.101726645G>ACA388711045FGF14c.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)
13g.101726645G>CCA388711046FGF14c.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
13g.101726645G=CA2114682701FGF14c.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=)
13g.101726645G>TCA7037140FGF14c.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
13g.101726645_101726646insAAATGTCATTTACA2515966588FGF14c.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
13g.101726646T>ACA388711048FGF14c.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)
13g.101726646T>CCA484767560FGF14c.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
13g.101726646T>GCA388711047FGF14c.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
13g.101726646T=CA2114682703FGF14c.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=)
13g.101726647T>ACA388711049FGF14c.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)
13g.101726647T>CCA388711050FGF14c.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)
13g.101726647T>GCA388711051FGF14c.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)
13g.101726648T>ACA388711052FGF14c.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)
13g.101726648T>CCA388711053FGF14c.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)
13g.101726648T>GCA388711054FGF14c.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)
13g.101726649G>ACA484767561FGF14c.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
13g.101726649G>CCA484767562FGF14c.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=)
13g.101726649G=CA2114682706FGF14c.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=)
13g.101726649G>TCA484767563FGF14c.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
13g.101726650G>ACA388711057FGF14c.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)
13g.101726650G>CCA388711055FGF14c.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)
13g.101726650G>TCA388711056FGF14c.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)
13g.101726651T>ACA388711058FGF14c.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)
13g.101726651T>CCA388711059FGF14c.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)
13g.101726651T>GCA388711060FGF14c.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
13g.101726651T=CA2114682709FGF14c.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=)
13g.101726652T>ACA388711061FGF14c.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)
13g.101726652T>CCA484767564FGF14c.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=)
13g.101726652T>GCA388711062FGF14c.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)
13g.101726653T>ACA388711063FGF14c.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)
13g.101726653T>CCA388711065FGF14c.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
13g.101726653T>GCA388711064FGF14c.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)
13g.101726654T>ACA388711066FGF14c.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)
13g.101726654T>CCA388711067FGF14c.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)
13g.101726654T>GCA388711068FGF14c.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)
13g.101726654_101726655delinsTCCA2114682712FGF14c.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=)
13g.101726655delCA1139663075FGF14c.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
13g.101726655C>ACA388711069FGF14c.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
13g.101726655C=CA2114682718FGF14c.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=)
13g.101726655C>GCA388711070FGF14c.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)
13g.101726655C>TCA7037141FGF14c.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
13g.101726656T>ACA388711071FGF14c.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)
13g.101726656T>CCA7037142FGF14c.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
13g.101726656T>GCA388711072FGF14c.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)
13g.101726656T=CA2114682723FGF14c.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=)
13g.101726657T>ACA388711073FGF14c.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)
13g.101726657T>CCA388711074FGF14c.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)
13g.101726657T>GCA388711075FGF14c.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)
13g.101726658T>ACA484767565FGF14c.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=)
13g.101726658T>CCA484767567FGF14c.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=)
13g.101726658T>GCA484767566FGF14c.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=)
13g.101726659A=CA2114682727FGF14c.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=)
13g.101726659A>CCA388711078FGF14c.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)
13g.101726659A>GCA388711077FGF14c.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)
13g.101726659A>TCA388711076FGF14c.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
13g.101726660C>ACA388711079FGF14c.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)
13g.101726660C=CA2114682730FGF14c.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=)
13g.101726660C>GCA388711080FGF14c.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)
13g.101726660C>TCA388711081FGF14c.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
13g.101726661T>ACA388711082FGF14c.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)
13g.101726661T>CCA484767568FGF14c.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=)
13g.101726661T>GCA388711083FGF14c.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)
13g.101726662C>ACA388711084FGF14c.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)
13g.101726662C>GCA388711085FGF14c.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)
13g.101726662C>TCA388711086FGF14c.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)
13g.101726663T>ACA388711087FGF14c.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
13g.101726663T>CCA388711088FGF14c.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)
13g.101726663T>GCA484767569FGF14c.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=)
13g.101726663T=CA2114682734FGF14c.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=)
13g.101726664G>ACA484767570FGF14c.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=)
13g.101726664G>CCA388711089FGF14c.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)
13g.101726664G>TCA388711090FGF14c.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)
13g.101726665T>ACA388711093FGF14c.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)
13g.101726665T>CCA388711092FGF14c.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
13g.101726665T>GCA388711091FGF14c.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)
13g.101726666T>ACA388711094FGF14c.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)
13g.101726666T>CCA388711096FGF14c.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)
13g.101726666T>GCA388711095FGF14c.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)
13g.101726667C>ACA484767573FGF14c.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
13g.101726667C=CA2114682741FGF14c.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=)
13g.101726667C>GCA484767571FGF14c.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
13g.101726667C>TCA484767572FGF14c.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
13g.101726668C>ACA388711097FGF14c.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)
13g.101726668C>GCA388711099FGF14c.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)
13g.101726668C>TCA388711098FGF14c.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
13g.101726669C>ACA388711100FGF14c.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)
13g.101726669C>GCA388711102FGF14c.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)
13g.101726669C>TCA388711101FGF14c.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
13g.101726670T>ACA388711103FGF14c.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)
13g.101726670T>CCA484767574FGF14c.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=)
13g.101726670T>GCA388711104FGF14c.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)
13g.101726671T>ACA388711105FGF14c.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)
13g.101726671T>CCA388711106FGF14c.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)
13g.101726671T>GCA388711107FGF14c.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)
13g.101726672T>ACA388711108FGF14c.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)
13g.101726672T>CCA388711109FGF14c.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)
13g.101726672T>GCA388711110FGF14c.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
13g.101726672T=CA2114682747FGF14c.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=)
13g.101726673C>ACA388711111FGF14c.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)
13g.101726673C>GCA388711112FGF14c.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
13g.101726673C>TCA388711113FGF14c.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
13g.101726674A>CCA388711114FGF14c.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)
13g.101726674A>GCA388711115FGF14c.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)
13g.101726674A>TCA388711116FGF14c.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)
13g.101726675T>ACA388711119FGF14c.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)
13g.101726675T>CCA388711117FGF14c.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)
13g.101726675T>GCA388711118FGF14c.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
13g.101726676A=CA2114682752FGF14c.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=)
13g.101726676A>CCA484767575FGF14c.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=)
13g.101726676A>GCA7037143FGF14c.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
13g.101726676A>TCA484767576FGF14c.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=)
13g.101726677G>ACA388711120FGF14c.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
13g.101726677G>CCA388711121FGF14c.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)
13g.101726677G>TCA388711122FGF14c.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)
13g.101726677_101726678delinsGCCA2114682758FGF14c.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=)
13g.101726678delCA7037144FGF14c.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
13g.101726678C>ACA388711123FGF14c.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)
13g.101726678C>GCA388711124FGF14c.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)
13g.101726678C>TCA388711125FGF14c.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
13g.101726679T>ACA388711126FGF14c.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
13g.101726679T>CCA484767577FGF14c.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
13g.101726679T>GCA388711127FGF14c.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)
13g.101726679T=CA2114682761FGF14c.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=)
13g.101726680T>ACA388711130FGF14c.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)
13g.101726680T>CCA388711129FGF14c.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
13g.101726680T>GCA388711128FGF14c.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)
13g.101726681G>ACA388711131FGF14c.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)
13g.101726681G>CCA388711132FGF14c.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)
13g.101726681G=CA2114682766FGF14c.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=)
13g.101726681G>TCA7037145FGF14c.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
13g.101726682C>ACA484767578FGF14c.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=)
13g.101726682C=CA2114682768FGF14c.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=)
13g.101726682C>GCA484767579FGF14c.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=)
13g.101726682C>TCA7037146FGF14c.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
13g.101726683C>ACA388711133FGF14c.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)
13g.101726683C>GCA388711134FGF14c.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)
13g.101726683C>TCA388711135FGF14c.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)
13g.101726684C>ACA388711136FGF14c.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)
13g.101726684C>GCA388711137FGF14c.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)
13g.101726684C>TCA388711138FGF14c.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
13g.101726685T>ACA388711139FGF14c.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)
13g.101726685T>CCA484767580FGF14c.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
13g.101726685T>GCA388711140FGF14c.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)
13g.101726685T=CA2114682770FGF14c.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=)
13g.101726686T>ACA388711143FGF14c.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)
13g.101726686T>CCA388711141FGF14c.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
13g.101726686T>GCA388711142FGF14c.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)
13g.101726686_101726687delinsTCCA2114682772FGF14c.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=)
13g.101726687C>ACA388711144FGF14c.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)
13g.101726687C=CA2114682778FGF14c.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=)
13g.101726687C>GCA388711145FGF14c.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)
13g.101726687C>TCA7037147FGF14c.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
13g.101726688delCA2114682774FGF14c.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
13g.101726688C>ACA388711146FGF14c.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)
13g.101726688C=CA2114682783FGF14c.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=)
13g.101726688C>GCA388711147FGF14c.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)
13g.101726688C>TCA484767581FGF14c.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
13g.101726689T>ACA388711148FGF14c.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)
13g.101726689T>CCA388711149FGF14c.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
13g.101726689T>GCA388711150FGF14c.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)
13g.101726690T>ACA388711151FGF14c.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
13g.101726690T>CCA388711152FGF14c.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
13g.101726690T>GCA388711153FGF14c.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
13g.101726690T=CA2114682788FGF14c.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=)

Number of alleles fetched