Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6474557C>ACA338139522PLEKHG5c.333G>T (p.Lys111Asn)
c.507G>T (p.Lys169Asn)
c.444G>T (p.Lys148Asn)
n.809G>T
c.540G>T (p.Lys180Asn)
c.630G>T (p.Lys210Asn)
c.*545G>T (n.*545G>T)
c.*161G>T (n.*161G>T)
c.295G>T (n.295G>T)
c.564G>T (p.Lys188Asn)
c.501G>T (p.Lys167Asn)
c.570G>T (p.Lys190Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.6474557C=CA1151507041PLEKHG5c.333G= (p.Lys111=)
c.507G= (p.Lys169=)
c.444G= (p.Lys148=)
n.809G=
c.540G= (p.Lys180=)
c.630G= (p.Lys210=)
c.*545G= (n.*545G=)
c.*161G= (n.*161G=)
c.295G= (n.295G=)
c.564G= (p.Lys188=)
c.501G= (p.Lys167=)
c.570G= (p.Lys190=)
1g.6474557C>GCA338139523PLEKHG5c.333G>C (p.Lys111Asn)
c.507G>C (p.Lys169Asn)
c.444G>C (p.Lys148Asn)
n.809G>C
c.540G>C (p.Lys180Asn)
c.630G>C (p.Lys210Asn)
c.*545G>C (n.*545G>C)
c.*161G>C (n.*161G>C)
c.295G>C (n.295G>C)
c.564G>C (p.Lys188Asn)
c.501G>C (p.Lys167Asn)
c.570G>C (p.Lys190Asn)
1g.6474557C>TCA561881PLEKHG5c.333G>A (p.Lys111=)
c.507G>A (p.Lys169=)
c.444G>A (p.Lys148=)
n.809G>A
c.540G>A (p.Lys180=)
c.630G>A (p.Lys210=)
c.*545G>A (n.*545G>A)
c.*161G>A (n.*161G>A)
c.295G>A (n.295G>A)
c.564G>A (p.Lys188=)
c.501G>A (p.Lys167=)
c.570G>A (p.Lys190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474558T>ACA338139527PLEKHG5c.332A>T (p.Lys111Met)
c.506A>T (p.Lys169Met)
c.443A>T (p.Lys148Met)
n.808A>T
c.539A>T (p.Lys180Met)
c.629A>T (p.Lys210Met)
c.*544A>T (n.*544A>T)
c.*160A>T (n.*160A>T)
c.294A>T (n.294A>T)
c.563A>T (p.Lys188Met)
c.500A>T (p.Lys167Met)
c.569A>T (p.Lys190Met)
1g.6474558T>CCA338139528PLEKHG5c.332A>G (p.Lys111Arg)
c.506A>G (p.Lys169Arg)
c.443A>G (p.Lys148Arg)
n.808A>G
c.539A>G (p.Lys180Arg)
c.629A>G (p.Lys210Arg)
c.*544A>G (n.*544A>G)
c.*160A>G (n.*160A>G)
c.294A>G (n.294A>G)
c.563A>G (p.Lys188Arg)
c.500A>G (p.Lys167Arg)
c.569A>G (p.Lys190Arg)
1g.6474558T>GCA338139530PLEKHG5c.332A>C (p.Lys111Thr)
c.506A>C (p.Lys169Thr)
c.443A>C (p.Lys148Thr)
n.808A>C
c.539A>C (p.Lys180Thr)
c.629A>C (p.Lys210Thr)
c.*544A>C (n.*544A>C)
c.*160A>C (n.*160A>C)
c.294A>C (n.294A>C)
c.563A>C (p.Lys188Thr)
c.500A>C (p.Lys167Thr)
c.569A>C (p.Lys190Thr)
1g.6474559T>ACA338139534PLEKHG5c.331A>T (p.Lys111Ter)
c.505A>T (p.Lys169Ter)
c.442A>T (p.Lys148Ter)
n.807A>T
c.538A>T (p.Lys180Ter)
c.628A>T (p.Lys210Ter)
c.*543A>T (n.*543A>T)
c.*159A>T (n.*159A>T)
c.293A>T (n.293A>T)
c.562A>T (p.Lys188Ter)
c.499A>T (p.Lys167Ter)
c.568A>T (p.Lys190Ter)
1g.6474559T>CCA338139536PLEKHG5c.331A>G (p.Lys111Glu)
c.505A>G (p.Lys169Glu)
c.442A>G (p.Lys148Glu)
n.807A>G
c.538A>G (p.Lys180Glu)
c.628A>G (p.Lys210Glu)
c.*543A>G (n.*543A>G)
c.*159A>G (n.*159A>G)
c.293A>G (n.293A>G)
c.562A>G (p.Lys188Glu)
c.499A>G (p.Lys167Glu)
c.568A>G (p.Lys190Glu)
1g.6474559T>GCA338139533PLEKHG5c.331A>C (p.Lys111Gln)
c.505A>C (p.Lys169Gln)
c.442A>C (p.Lys148Gln)
n.807A>C
c.538A>C (p.Lys180Gln)
c.628A>C (p.Lys210Gln)
c.*543A>C (n.*543A>C)
c.*159A>C (n.*159A>C)
c.293A>C (n.293A>C)
c.562A>C (p.Lys188Gln)
c.499A>C (p.Lys167Gln)
c.568A>C (p.Lys190Gln)
1g.6474560C>ACA338139538PLEKHG5c.330G>T (p.Arg110Ser)
c.504G>T (p.Arg168Ser)
c.441G>T (p.Arg147Ser)
n.806G>T
c.537G>T (p.Arg179Ser)
c.627G>T (p.Arg209Ser)
c.*542G>T (n.*542G>T)
c.*158G>T (n.*158G>T)
c.292G>T (n.292G>T)
c.561G>T (p.Arg187Ser)
c.498G>T (p.Arg166Ser)
c.567G>T (p.Arg189Ser)
1g.6474560C>GCA338139539PLEKHG5c.330G>C (p.Arg110Ser)
c.504G>C (p.Arg168Ser)
c.441G>C (p.Arg147Ser)
n.806G>C
c.537G>C (p.Arg179Ser)
c.627G>C (p.Arg209Ser)
c.*542G>C (n.*542G>C)
c.*158G>C (n.*158G>C)
c.292G>C (n.292G>C)
c.561G>C (p.Arg187Ser)
c.498G>C (p.Arg166Ser)
c.567G>C (p.Arg189Ser)
1g.6474560C>TCA415834165PLEKHG5c.330G>A (p.Arg110=)
c.504G>A (p.Arg168=)
c.441G>A (p.Arg147=)
n.806G>A
c.537G>A (p.Arg179=)
c.627G>A (p.Arg209=)
c.*542G>A (n.*542G>A)
c.*158G>A (n.*158G>A)
c.292G>A (n.292G>A)
c.561G>A (p.Arg187=)
c.498G>A (p.Arg166=)
c.567G>A (p.Arg189=)
1g.6474561C>ACA338139542PLEKHG5c.329G>T (p.Arg110Met)
c.503G>T (p.Arg168Met)
c.440G>T (p.Arg147Met)
n.805G>T
c.536G>T (p.Arg179Met)
c.626G>T (p.Arg209Met)
c.*541G>T (n.*541G>T)
c.*157G>T (n.*157G>T)
c.291G>T (n.291G>T)
c.560G>T (p.Arg187Met)
c.497G>T (p.Arg166Met)
c.566G>T (p.Arg189Met)
1g.6474561C>GCA338139543PLEKHG5c.329G>C (p.Arg110Thr)
c.503G>C (p.Arg168Thr)
c.440G>C (p.Arg147Thr)
n.805G>C
c.536G>C (p.Arg179Thr)
c.626G>C (p.Arg209Thr)
c.*541G>C (n.*541G>C)
c.*157G>C (n.*157G>C)
c.291G>C (n.291G>C)
c.560G>C (p.Arg187Thr)
c.497G>C (p.Arg166Thr)
c.566G>C (p.Arg189Thr)
1g.6474561C>TCA338139545PLEKHG5c.329G>A (p.Arg110Lys)
c.503G>A (p.Arg168Lys)
c.440G>A (p.Arg147Lys)
n.805G>A
c.536G>A (p.Arg179Lys)
c.626G>A (p.Arg209Lys)
c.*541G>A (n.*541G>A)
c.*157G>A (n.*157G>A)
c.291G>A (n.291G>A)
c.560G>A (p.Arg187Lys)
c.497G>A (p.Arg166Lys)
c.566G>A (p.Arg189Lys)
1g.6474562T>ACA338139547PLEKHG5c.328A>T (p.Arg110Trp)
c.502A>T (p.Arg168Trp)
c.439A>T (p.Arg147Trp)
n.804A>T
c.535A>T (p.Arg179Trp)
c.625A>T (p.Arg209Trp)
c.*540A>T (n.*540A>T)
c.*156A>T (n.*156A>T)
c.290A>T (n.290A>T)
c.559A>T (p.Arg187Trp)
c.496A>T (p.Arg166Trp)
c.565A>T (p.Arg189Trp)
1g.6474562T>CCA338139548PLEKHG5c.328A>G (p.Arg110Gly)
c.502A>G (p.Arg168Gly)
c.439A>G (p.Arg147Gly)
n.804A>G
c.535A>G (p.Arg179Gly)
c.625A>G (p.Arg209Gly)
c.*540A>G (n.*540A>G)
c.*156A>G (n.*156A>G)
c.290A>G (n.290A>G)
c.559A>G (p.Arg187Gly)
c.496A>G (p.Arg166Gly)
c.565A>G (p.Arg189Gly)
 gnomAD v4
1g.6474562T>GCA415834166PLEKHG5c.328A>C (p.Arg110=)
c.502A>C (p.Arg168=)
c.439A>C (p.Arg147=)
n.804A>C
c.535A>C (p.Arg179=)
c.625A>C (p.Arg209=)
c.*540A>C (n.*540A>C)
c.*156A>C (n.*156A>C)
c.290A>C (n.290A>C)
c.559A>C (p.Arg187=)
c.496A>C (p.Arg166=)
c.565A>C (p.Arg189=)
1g.6474563T>ACA338139550PLEKHG5c.327A>T (p.Glu109Asp)
c.501A>T (p.Glu167Asp)
c.438A>T (p.Glu146Asp)
n.803A>T
c.534A>T (p.Glu178Asp)
c.624A>T (p.Glu208Asp)
c.*539A>T (n.*539A>T)
c.*155A>T (n.*155A>T)
c.289A>T (n.289A>T)
c.558A>T (p.Glu186Asp)
c.495A>T (p.Glu165Asp)
c.564A>T (p.Glu188Asp)
1g.6474563T>CCA415834168PLEKHG5c.327A>G (p.Glu109=)
c.501A>G (p.Glu167=)
c.438A>G (p.Glu146=)
n.803A>G
c.534A>G (p.Glu178=)
c.624A>G (p.Glu208=)
c.*539A>G (n.*539A>G)
c.*155A>G (n.*155A>G)
c.289A>G (n.289A>G)
c.558A>G (p.Glu186=)
c.495A>G (p.Glu165=)
c.564A>G (p.Glu188=)
1g.6474563T>GCA338139551PLEKHG5c.327A>C (p.Glu109Asp)
c.501A>C (p.Glu167Asp)
c.438A>C (p.Glu146Asp)
n.803A>C
c.534A>C (p.Glu178Asp)
c.624A>C (p.Glu208Asp)
c.*539A>C (n.*539A>C)
c.*155A>C (n.*155A>C)
c.289A>C (n.289A>C)
c.558A>C (p.Glu186Asp)
c.495A>C (p.Glu165Asp)
c.564A>C (p.Glu188Asp)
1g.6474564T>ACA338139553PLEKHG5c.326A>T (p.Glu109Val)
c.500A>T (p.Glu167Val)
c.437A>T (p.Glu146Val)
n.802A>T
c.533A>T (p.Glu178Val)
c.623A>T (p.Glu208Val)
c.*538A>T (n.*538A>T)
c.*154A>T (n.*154A>T)
c.288A>T (n.288A>T)
c.557A>T (p.Glu186Val)
c.494A>T (p.Glu165Val)
c.563A>T (p.Glu188Val)
1g.6474564T>CCA338139554PLEKHG5c.326A>G (p.Glu109Gly)
c.500A>G (p.Glu167Gly)
c.437A>G (p.Glu146Gly)
n.802A>G
c.533A>G (p.Glu178Gly)
c.623A>G (p.Glu208Gly)
c.*538A>G (n.*538A>G)
c.*154A>G (n.*154A>G)
c.288A>G (n.288A>G)
c.557A>G (p.Glu186Gly)
c.494A>G (p.Glu165Gly)
c.563A>G (p.Glu188Gly)
1g.6474564T>GCA338139556PLEKHG5c.326A>C (p.Glu109Ala)
c.500A>C (p.Glu167Ala)
c.437A>C (p.Glu146Ala)
n.802A>C
c.533A>C (p.Glu178Ala)
c.623A>C (p.Glu208Ala)
c.*538A>C (n.*538A>C)
c.*154A>C (n.*154A>C)
c.288A>C (n.288A>C)
c.557A>C (p.Glu186Ala)
c.494A>C (p.Glu165Ala)
c.563A>C (p.Glu188Ala)
1g.6474565C>ACA338139557PLEKHG5c.325G>T (p.Glu109Ter)
c.499G>T (p.Glu167Ter)
c.436G>T (p.Glu146Ter)
n.801G>T
c.532G>T (p.Glu178Ter)
c.622G>T (p.Glu208Ter)
c.*537G>T (n.*537G>T)
c.*153G>T (n.*153G>T)
c.287G>T (n.287G>T)
c.556G>T (p.Glu186Ter)
c.493G>T (p.Glu165Ter)
c.562G>T (p.Glu188Ter)
1g.6474565C>GCA338139559PLEKHG5c.325G>C (p.Glu109Gln)
c.499G>C (p.Glu167Gln)
c.436G>C (p.Glu146Gln)
n.801G>C
c.532G>C (p.Glu178Gln)
c.622G>C (p.Glu208Gln)
c.*537G>C (n.*537G>C)
c.*153G>C (n.*153G>C)
c.287G>C (n.287G>C)
c.556G>C (p.Glu186Gln)
c.493G>C (p.Glu165Gln)
c.562G>C (p.Glu188Gln)
1g.6474565C>TCA338139560PLEKHG5c.325G>A (p.Glu109Lys)
c.499G>A (p.Glu167Lys)
c.436G>A (p.Glu146Lys)
n.801G>A
c.532G>A (p.Glu178Lys)
c.622G>A (p.Glu208Lys)
c.*537G>A (n.*537G>A)
c.*153G>A (n.*153G>A)
c.287G>A (n.287G>A)
c.556G>A (p.Glu186Lys)
c.493G>A (p.Glu165Lys)
c.562G>A (p.Glu188Lys)
1g.6474566A>CCA338139562PLEKHG5c.324T>G (p.Phe108Leu)
c.498T>G (p.Phe166Leu)
c.435T>G (p.Phe145Leu)
n.800T>G
c.531T>G (p.Phe177Leu)
c.621T>G (p.Phe207Leu)
c.*536T>G (n.*536T>G)
c.*152T>G (n.*152T>G)
c.286T>G (n.286T>G)
c.555T>G (p.Phe185Leu)
c.492T>G (p.Phe164Leu)
c.561T>G (p.Phe187Leu)
1g.6474566A>GCA415834169PLEKHG5c.324T>C (p.Phe108=)
c.498T>C (p.Phe166=)
c.435T>C (p.Phe145=)
n.800T>C
c.531T>C (p.Phe177=)
c.621T>C (p.Phe207=)
c.*536T>C (n.*536T>C)
c.*152T>C (n.*152T>C)
c.286T>C (n.286T>C)
c.555T>C (p.Phe185=)
c.492T>C (p.Phe164=)
c.561T>C (p.Phe187=)
1g.6474566A>TCA338139563PLEKHG5c.324T>A (p.Phe108Leu)
c.498T>A (p.Phe166Leu)
c.435T>A (p.Phe145Leu)
n.800T>A
c.531T>A (p.Phe177Leu)
c.621T>A (p.Phe207Leu)
c.*536T>A (n.*536T>A)
c.*152T>A (n.*152T>A)
c.286T>A (n.286T>A)
c.555T>A (p.Phe185Leu)
c.492T>A (p.Phe164Leu)
c.561T>A (p.Phe187Leu)
1g.6474567A>CCA338139566PLEKHG5c.323T>G (p.Phe108Cys)
c.497T>G (p.Phe166Cys)
c.434T>G (p.Phe145Cys)
n.799T>G
c.530T>G (p.Phe177Cys)
c.620T>G (p.Phe207Cys)
c.*535T>G (n.*535T>G)
c.*151T>G (n.*151T>G)
c.285T>G (n.285T>G)
c.554T>G (p.Phe185Cys)
c.491T>G (p.Phe164Cys)
c.560T>G (p.Phe187Cys)
1g.6474567A>GCA338139568PLEKHG5c.323T>C (p.Phe108Ser)
c.497T>C (p.Phe166Ser)
c.434T>C (p.Phe145Ser)
n.799T>C
c.530T>C (p.Phe177Ser)
c.620T>C (p.Phe207Ser)
c.*535T>C (n.*535T>C)
c.*151T>C (n.*151T>C)
c.285T>C (n.285T>C)
c.554T>C (p.Phe185Ser)
c.491T>C (p.Phe164Ser)
c.560T>C (p.Phe187Ser)
1g.6474567A>TCA338139572PLEKHG5c.323T>A (p.Phe108Tyr)
c.497T>A (p.Phe166Tyr)
c.434T>A (p.Phe145Tyr)
n.799T>A
c.530T>A (p.Phe177Tyr)
c.620T>A (p.Phe207Tyr)
c.*535T>A (n.*535T>A)
c.*151T>A (n.*151T>A)
c.285T>A (n.285T>A)
c.554T>A (p.Phe185Tyr)
c.491T>A (p.Phe164Tyr)
c.560T>A (p.Phe187Tyr)
1g.6474568A>CCA338139575PLEKHG5c.322T>G (p.Phe108Val)
c.496T>G (p.Phe166Val)
c.433T>G (p.Phe145Val)
n.798T>G
c.529T>G (p.Phe177Val)
c.619T>G (p.Phe207Val)
c.*534T>G (n.*534T>G)
c.*150T>G (n.*150T>G)
c.284T>G (n.284T>G)
c.553T>G (p.Phe185Val)
c.490T>G (p.Phe164Val)
c.559T>G (p.Phe187Val)
1g.6474568A>GCA338139577PLEKHG5c.322T>C (p.Phe108Leu)
c.496T>C (p.Phe166Leu)
c.433T>C (p.Phe145Leu)
n.798T>C
c.529T>C (p.Phe177Leu)
c.619T>C (p.Phe207Leu)
c.*534T>C (n.*534T>C)
c.*150T>C (n.*150T>C)
c.284T>C (n.284T>C)
c.553T>C (p.Phe185Leu)
c.490T>C (p.Phe164Leu)
c.559T>C (p.Phe187Leu)
1g.6474568A>TCA338139580PLEKHG5c.322T>A (p.Phe108Ile)
c.496T>A (p.Phe166Ile)
c.433T>A (p.Phe145Ile)
n.798T>A
c.529T>A (p.Phe177Ile)
c.619T>A (p.Phe207Ile)
c.*534T>A (n.*534T>A)
c.*150T>A (n.*150T>A)
c.284T>A (n.284T>A)
c.553T>A (p.Phe185Ile)
c.490T>A (p.Phe164Ile)
c.559T>A (p.Phe187Ile)
1g.6474569T>ACA415834170PLEKHG5c.321A>T (p.Val107=)
c.495A>T (p.Val165=)
c.432A>T (p.Val144=)
n.797A>T
c.528A>T (p.Val176=)
c.618A>T (p.Val206=)
c.*533A>T (n.*533A>T)
c.*149A>T (n.*149A>T)
c.283A>T (n.283A>T)
c.552A>T (p.Val184=)
c.489A>T (p.Val163=)
c.558A>T (p.Val186=)
1g.6474569T>CCA415834171PLEKHG5c.321A>G (p.Val107=)
c.495A>G (p.Val165=)
c.432A>G (p.Val144=)
n.797A>G
c.528A>G (p.Val176=)
c.618A>G (p.Val206=)
c.*533A>G (n.*533A>G)
c.*149A>G (n.*149A>G)
c.283A>G (n.283A>G)
c.552A>G (p.Val184=)
c.489A>G (p.Val163=)
c.558A>G (p.Val186=)
 gnomAD v4
1g.6474569T>GCA415834172PLEKHG5c.321A>C (p.Val107=)
c.495A>C (p.Val165=)
c.432A>C (p.Val144=)
n.797A>C
c.528A>C (p.Val176=)
c.618A>C (p.Val206=)
c.*533A>C (n.*533A>C)
c.*149A>C (n.*149A>C)
c.283A>C (n.283A>C)
c.552A>C (p.Val184=)
c.489A>C (p.Val163=)
c.558A>C (p.Val186=)
1g.6474570A>CCA338139583PLEKHG5c.320T>G (p.Val107Gly)
c.494T>G (p.Val165Gly)
c.431T>G (p.Val144Gly)
n.796T>G
c.527T>G (p.Val176Gly)
c.617T>G (p.Val206Gly)
c.*532T>G (n.*532T>G)
c.*148T>G (n.*148T>G)
c.282T>G (n.282T>G)
c.551T>G (p.Val184Gly)
c.488T>G (p.Val163Gly)
c.557T>G (p.Val186Gly)
1g.6474570A>GCA338139586PLEKHG5c.320T>C (p.Val107Ala)
c.494T>C (p.Val165Ala)
c.431T>C (p.Val144Ala)
n.796T>C
c.527T>C (p.Val176Ala)
c.617T>C (p.Val206Ala)
c.*532T>C (n.*532T>C)
c.*148T>C (n.*148T>C)
c.282T>C (n.282T>C)
c.551T>C (p.Val184Ala)
c.488T>C (p.Val163Ala)
c.557T>C (p.Val186Ala)
1g.6474570A>TCA338139588PLEKHG5c.320T>A (p.Val107Glu)
c.494T>A (p.Val165Glu)
c.431T>A (p.Val144Glu)
n.796T>A
c.527T>A (p.Val176Glu)
c.617T>A (p.Val206Glu)
c.*532T>A (n.*532T>A)
c.*148T>A (n.*148T>A)
c.282T>A (n.282T>A)
c.551T>A (p.Val184Glu)
c.488T>A (p.Val163Glu)
c.557T>A (p.Val186Glu)
 gnomAD v4
1g.6474571C>ACA338139590PLEKHG5c.319G>T (p.Val107Leu)
c.493G>T (p.Val165Leu)
c.430G>T (p.Val144Leu)
n.795G>T
c.526G>T (p.Val176Leu)
c.616G>T (p.Val206Leu)
c.*531G>T (n.*531G>T)
c.*147G>T (n.*147G>T)
c.281G>T (n.281G>T)
c.550G>T (p.Val184Leu)
c.487G>T (p.Val163Leu)
c.556G>T (p.Val186Leu)
1g.6474571C>GCA338139593PLEKHG5c.319G>C (p.Val107Leu)
c.493G>C (p.Val165Leu)
c.430G>C (p.Val144Leu)
n.795G>C
c.526G>C (p.Val176Leu)
c.616G>C (p.Val206Leu)
c.*531G>C (n.*531G>C)
c.*147G>C (n.*147G>C)
c.281G>C (n.281G>C)
c.550G>C (p.Val184Leu)
c.487G>C (p.Val163Leu)
c.556G>C (p.Val186Leu)
1g.6474571C>TCA338139594PLEKHG5c.319G>A (p.Val107Ile)
c.493G>A (p.Val165Ile)
c.430G>A (p.Val144Ile)
n.795G>A
c.526G>A (p.Val176Ile)
c.616G>A (p.Val206Ile)
c.*531G>A (n.*531G>A)
c.*147G>A (n.*147G>A)
c.281G>A (n.281G>A)
c.550G>A (p.Val184Ile)
c.487G>A (p.Val163Ile)
c.556G>A (p.Val186Ile)
1g.6474572A>CCA415834175PLEKHG5c.318T>G (p.Pro106=)
c.492T>G (p.Pro164=)
c.429T>G (p.Pro143=)
n.794T>G
c.525T>G (p.Pro175=)
c.615T>G (p.Pro205=)
c.*530T>G (n.*530T>G)
c.*146T>G (n.*146T>G)
c.280T>G (n.280T>G)
c.549T>G (p.Pro183=)
c.486T>G (p.Pro162=)
c.555T>G (p.Pro185=)
1g.6474572A>GCA415834173PLEKHG5c.318T>C (p.Pro106=)
c.492T>C (p.Pro164=)
c.429T>C (p.Pro143=)
n.794T>C
c.525T>C (p.Pro175=)
c.615T>C (p.Pro205=)
c.*530T>C (n.*530T>C)
c.*146T>C (n.*146T>C)
c.280T>C (n.280T>C)
c.549T>C (p.Pro183=)
c.486T>C (p.Pro162=)
c.555T>C (p.Pro185=)
 ClinVar
1g.6474572A>TCA415834174PLEKHG5c.318T>A (p.Pro106=)
c.492T>A (p.Pro164=)
c.429T>A (p.Pro143=)
n.794T>A
c.525T>A (p.Pro175=)
c.615T>A (p.Pro205=)
c.*530T>A (n.*530T>A)
c.*146T>A (n.*146T>A)
c.280T>A (n.280T>A)
c.549T>A (p.Pro183=)
c.486T>A (p.Pro162=)
c.555T>A (p.Pro185=)
1g.6474573G>ACA338139602PLEKHG5c.317C>T (p.Pro106Leu)
c.491C>T (p.Pro164Leu)
c.428C>T (p.Pro143Leu)
n.793C>T
c.524C>T (p.Pro175Leu)
c.614C>T (p.Pro205Leu)
c.*529C>T (n.*529C>T)
c.*145C>T (n.*145C>T)
c.279C>T (n.279C>T)
c.548C>T (p.Pro183Leu)
c.485C>T (p.Pro162Leu)
c.554C>T (p.Pro185Leu)
 gnomAD v4
1g.6474573G>CCA338139599PLEKHG5c.317C>G (p.Pro106Arg)
c.491C>G (p.Pro164Arg)
c.428C>G (p.Pro143Arg)
n.793C>G
c.524C>G (p.Pro175Arg)
c.614C>G (p.Pro205Arg)
c.*529C>G (n.*529C>G)
c.*145C>G (n.*145C>G)
c.279C>G (n.279C>G)
c.548C>G (p.Pro183Arg)
c.485C>G (p.Pro162Arg)
c.554C>G (p.Pro185Arg)
1g.6474573G>TCA338139596PLEKHG5c.317C>A (p.Pro106His)
c.491C>A (p.Pro164His)
c.428C>A (p.Pro143His)
n.793C>A
c.524C>A (p.Pro175His)
c.614C>A (p.Pro205His)
c.*529C>A (n.*529C>A)
c.*145C>A (n.*145C>A)
c.279C>A (n.279C>A)
c.548C>A (p.Pro183His)
c.485C>A (p.Pro162His)
c.554C>A (p.Pro185His)
1g.6474574G>ACA338139610PLEKHG5c.316C>T (p.Pro106Ser)
c.490C>T (p.Pro164Ser)
c.427C>T (p.Pro143Ser)
n.792C>T
c.523C>T (p.Pro175Ser)
c.613C>T (p.Pro205Ser)
c.*528C>T (n.*528C>T)
c.*144C>T (n.*144C>T)
c.278C>T (n.278C>T)
c.547C>T (p.Pro183Ser)
c.484C>T (p.Pro162Ser)
c.553C>T (p.Pro185Ser)
1g.6474574G>CCA338139605PLEKHG5c.316C>G (p.Pro106Ala)
c.490C>G (p.Pro164Ala)
c.427C>G (p.Pro143Ala)
n.792C>G
c.523C>G (p.Pro175Ala)
c.613C>G (p.Pro205Ala)
c.*528C>G (n.*528C>G)
c.*144C>G (n.*144C>G)
c.278C>G (n.278C>G)
c.547C>G (p.Pro183Ala)
c.484C>G (p.Pro162Ala)
c.553C>G (p.Pro185Ala)
1g.6474574G=CA1151507048PLEKHG5c.316C= (p.Pro106=)
c.490C= (p.Pro164=)
c.427C= (p.Pro143=)
n.792C=
c.523C= (p.Pro175=)
c.613C= (p.Pro205=)
c.*528C= (n.*528C=)
c.*144C= (n.*144C=)
c.278C= (n.278C=)
c.547C= (p.Pro183=)
c.484C= (p.Pro162=)
c.553C= (p.Pro185=)
1g.6474574G>TCA338139607PLEKHG5c.316C>A (p.Pro106Thr)
c.490C>A (p.Pro164Thr)
c.427C>A (p.Pro143Thr)
n.792C>A
c.523C>A (p.Pro175Thr)
c.613C>A (p.Pro205Thr)
c.*528C>A (n.*528C>A)
c.*144C>A (n.*144C>A)
c.278C>A (n.278C>A)
c.547C>A (p.Pro183Thr)
c.484C>A (p.Pro162Thr)
c.553C>A (p.Pro185Thr)
 dbSNP gnomAD v2
1g.6474575C>ACA415834176PLEKHG5c.315G>T (p.Leu105=)
c.489G>T (p.Leu163=)
c.426G>T (p.Leu142=)
n.791G>T
c.522G>T (p.Leu174=)
c.612G>T (p.Leu204=)
c.*527G>T (n.*527G>T)
c.*143G>T (n.*143G>T)
c.277G>T (n.277G>T)
c.546G>T (p.Leu182=)
c.483G>T (p.Leu161=)
c.552G>T (p.Leu184=)
1g.6474575C=CA1151507051PLEKHG5c.315G= (p.Leu105=)
c.489G= (p.Leu163=)
c.426G= (p.Leu142=)
n.791G=
c.522G= (p.Leu174=)
c.612G= (p.Leu204=)
c.*527G= (n.*527G=)
c.*143G= (n.*143G=)
c.277G= (n.277G=)
c.546G= (p.Leu182=)
c.483G= (p.Leu161=)
c.552G= (p.Leu184=)
1g.6474575C>GCA415834177PLEKHG5c.315G>C (p.Leu105=)
c.489G>C (p.Leu163=)
c.426G>C (p.Leu142=)
n.791G>C
c.522G>C (p.Leu174=)
c.612G>C (p.Leu204=)
c.*527G>C (n.*527G>C)
c.*143G>C (n.*143G>C)
c.277G>C (n.277G>C)
c.546G>C (p.Leu182=)
c.483G>C (p.Leu161=)
c.552G>C (p.Leu184=)
1g.6474575C>TCA415834178PLEKHG5c.315G>A (p.Leu105=)
c.489G>A (p.Leu163=)
c.426G>A (p.Leu142=)
n.791G>A
c.522G>A (p.Leu174=)
c.612G>A (p.Leu204=)
c.*527G>A (n.*527G>A)
c.*143G>A (n.*143G>A)
c.277G>A (n.277G>A)
c.546G>A (p.Leu182=)
c.483G>A (p.Leu161=)
c.552G>A (p.Leu184=)
 dbSNP
1g.6474576A>CCA338139614PLEKHG5c.314T>G (p.Leu105Arg)
c.488T>G (p.Leu163Arg)
c.425T>G (p.Leu142Arg)
n.790T>G
c.521T>G (p.Leu174Arg)
c.611T>G (p.Leu204Arg)
c.*526T>G (n.*526T>G)
c.*142T>G (n.*142T>G)
c.276T>G (n.276T>G)
c.545T>G (p.Leu182Arg)
c.482T>G (p.Leu161Arg)
c.551T>G (p.Leu184Arg)
1g.6474576A>GCA338139616PLEKHG5c.314T>C (p.Leu105Pro)
c.488T>C (p.Leu163Pro)
c.425T>C (p.Leu142Pro)
n.790T>C
c.521T>C (p.Leu174Pro)
c.611T>C (p.Leu204Pro)
c.*526T>C (n.*526T>C)
c.*142T>C (n.*142T>C)
c.276T>C (n.276T>C)
c.545T>C (p.Leu182Pro)
c.482T>C (p.Leu161Pro)
c.551T>C (p.Leu184Pro)
 ClinVar
1g.6474576A>TCA338139618PLEKHG5c.314T>A (p.Leu105Gln)
c.488T>A (p.Leu163Gln)
c.425T>A (p.Leu142Gln)
n.790T>A
c.521T>A (p.Leu174Gln)
c.611T>A (p.Leu204Gln)
c.*526T>A (n.*526T>A)
c.*142T>A (n.*142T>A)
c.276T>A (n.276T>A)
c.545T>A (p.Leu182Gln)
c.482T>A (p.Leu161Gln)
c.551T>A (p.Leu184Gln)
1g.6474577G>ACA415834179PLEKHG5c.313C>T (p.Leu105=)
c.487C>T (p.Leu163=)
c.424C>T (p.Leu142=)
n.789C>T
c.520C>T (p.Leu174=)
c.610C>T (p.Leu204=)
c.*525C>T (n.*525C>T)
c.*141C>T (n.*141C>T)
c.275C>T (n.275C>T)
c.313C>T
c.544C>T (p.Leu182=)
c.481C>T (p.Leu161=)
c.550C>T (p.Leu184=)
1g.6474577G>CCA338139622PLEKHG5c.313C>G (p.Leu105Val)
c.487C>G (p.Leu163Val)
c.424C>G (p.Leu142Val)
n.789C>G
c.520C>G (p.Leu174Val)
c.610C>G (p.Leu204Val)
c.*525C>G (n.*525C>G)
c.*141C>G (n.*141C>G)
c.275C>G (n.275C>G)
c.313C>G
c.544C>G (p.Leu182Val)
c.481C>G (p.Leu161Val)
c.550C>G (p.Leu184Val)
1g.6474577G>TCA338139625PLEKHG5c.313C>A (p.Leu105Met)
c.487C>A (p.Leu163Met)
c.424C>A (p.Leu142Met)
n.789C>A
c.520C>A (p.Leu174Met)
c.610C>A (p.Leu204Met)
c.*525C>A (n.*525C>A)
c.*141C>A (n.*141C>A)
c.275C>A (n.275C>A)
c.313C>A
c.544C>A (p.Leu182Met)
c.481C>A (p.Leu161Met)
c.550C>A (p.Leu184Met)
 COSMIC COSMIC COSMIC
1g.6474578C>ACA415834182PLEKHG5c.312G>T (p.Leu104=)
c.486G>T (p.Leu162=)
c.423G>T (p.Leu141=)
n.788G>T
c.519G>T (p.Leu173=)
c.609G>T (p.Leu203=)
c.*524G>T (n.*524G>T)
c.*140G>T (n.*140G>T)
c.274G>T (n.274G>T)
c.543G>T (p.Leu181=)
c.480G>T (p.Leu160=)
c.549G>T (p.Leu183=)
1g.6474578C>GCA415834180PLEKHG5c.312G>C (p.Leu104=)
c.486G>C (p.Leu162=)
c.423G>C (p.Leu141=)
n.788G>C
c.519G>C (p.Leu173=)
c.609G>C (p.Leu203=)
c.*524G>C (n.*524G>C)
c.*140G>C (n.*140G>C)
c.274G>C (n.274G>C)
c.543G>C (p.Leu181=)
c.480G>C (p.Leu160=)
c.549G>C (p.Leu183=)
1g.6474578C>TCA415834181PLEKHG5c.312G>A (p.Leu104=)
c.486G>A (p.Leu162=)
c.423G>A (p.Leu141=)
n.788G>A
c.519G>A (p.Leu173=)
c.609G>A (p.Leu203=)
c.*524G>A (n.*524G>A)
c.*140G>A (n.*140G>A)
c.274G>A (n.274G>A)
c.543G>A (p.Leu181=)
c.480G>A (p.Leu160=)
c.549G>A (p.Leu183=)
 COSMIC COSMIC COSMIC
1g.6474579A>CCA338139628PLEKHG5c.311T>G (p.Leu104Arg)
c.485T>G (p.Leu162Arg)
c.422T>G (p.Leu141Arg)
n.787T>G
c.518T>G (p.Leu173Arg)
c.608T>G (p.Leu203Arg)
c.*523T>G (n.*523T>G)
c.*139T>G (n.*139T>G)
c.273T>G (n.273T>G)
c.542T>G (p.Leu181Arg)
c.479T>G (p.Leu160Arg)
c.548T>G (p.Leu183Arg)
1g.6474579A>GCA338139630PLEKHG5c.311T>C (p.Leu104Pro)
c.485T>C (p.Leu162Pro)
c.422T>C (p.Leu141Pro)
n.787T>C
c.518T>C (p.Leu173Pro)
c.608T>C (p.Leu203Pro)
c.*523T>C (n.*523T>C)
c.*139T>C (n.*139T>C)
c.273T>C (n.273T>C)
c.542T>C (p.Leu181Pro)
c.479T>C (p.Leu160Pro)
c.548T>C (p.Leu183Pro)
1g.6474579A>TCA338139633PLEKHG5c.311T>A (p.Leu104Gln)
c.485T>A (p.Leu162Gln)
c.422T>A (p.Leu141Gln)
n.787T>A
c.518T>A (p.Leu173Gln)
c.608T>A (p.Leu203Gln)
c.*523T>A (n.*523T>A)
c.*139T>A (n.*139T>A)
c.273T>A (n.273T>A)
c.542T>A (p.Leu181Gln)
c.479T>A (p.Leu160Gln)
c.548T>A (p.Leu183Gln)
1g.6474580G>ACA415834183PLEKHG5c.310C>T (p.Leu104=)
c.484C>T (p.Leu162=)
c.421C>T (p.Leu141=)
n.786C>T
c.517C>T (p.Leu173=)
c.607C>T (p.Leu203=)
c.*522C>T (n.*522C>T)
c.*138C>T (n.*138C>T)
c.272C>T (n.272C>T)
c.541C>T (p.Leu181=)
c.478C>T (p.Leu160=)
c.547C>T (p.Leu183=)
1g.6474580G>CCA338139634PLEKHG5c.310C>G (p.Leu104Val)
c.484C>G (p.Leu162Val)
c.421C>G (p.Leu141Val)
n.786C>G
c.517C>G (p.Leu173Val)
c.607C>G (p.Leu203Val)
c.*522C>G (n.*522C>G)
c.*138C>G (n.*138C>G)
c.272C>G (n.272C>G)
c.541C>G (p.Leu181Val)
c.478C>G (p.Leu160Val)
c.547C>G (p.Leu183Val)
1g.6474580G>TCA338139635PLEKHG5c.310C>A (p.Leu104Met)
c.484C>A (p.Leu162Met)
c.421C>A (p.Leu141Met)
n.786C>A
c.517C>A (p.Leu173Met)
c.607C>A (p.Leu203Met)
c.*522C>A (n.*522C>A)
c.*138C>A (n.*138C>A)
c.272C>A (n.272C>A)
c.541C>A (p.Leu181Met)
c.478C>A (p.Leu160Met)
c.547C>A (p.Leu183Met)
1g.6474581C>ACA415834184PLEKHG5c.309G>T (p.Val103=)
c.483G>T (p.Val161=)
c.420G>T (p.Val140=)
n.785G>T
c.516G>T (p.Val172=)
c.606G>T (p.Val202=)
c.*521G>T (n.*521G>T)
c.*137G>T (n.*137G>T)
c.271G>T (n.271G>T)
c.540G>T (p.Val180=)
c.477G>T (p.Val159=)
c.546G>T (p.Val182=)
1g.6474581C>GCA415834185PLEKHG5c.309G>C (p.Val103=)
c.483G>C (p.Val161=)
c.420G>C (p.Val140=)
n.785G>C
c.516G>C (p.Val172=)
c.606G>C (p.Val202=)
c.*521G>C (n.*521G>C)
c.*137G>C (n.*137G>C)
c.271G>C (n.271G>C)
c.540G>C (p.Val180=)
c.477G>C (p.Val159=)
c.546G>C (p.Val182=)
1g.6474581C>TCA415834186PLEKHG5c.309G>A (p.Val103=)
c.483G>A (p.Val161=)
c.420G>A (p.Val140=)
n.785G>A
c.516G>A (p.Val172=)
c.606G>A (p.Val202=)
c.*521G>A (n.*521G>A)
c.*137G>A (n.*137G>A)
c.271G>A (n.271G>A)
c.540G>A (p.Val180=)
c.477G>A (p.Val159=)
c.546G>A (p.Val182=)
1g.6474582A>CCA338139641PLEKHG5c.308T>G (p.Val103Gly)
c.482T>G (p.Val161Gly)
c.419T>G (p.Val140Gly)
n.784T>G
c.515T>G (p.Val172Gly)
c.605T>G (p.Val202Gly)
c.*520T>G (n.*520T>G)
c.*136T>G (n.*136T>G)
c.270T>G (n.270T>G)
c.539T>G (p.Val180Gly)
c.476T>G (p.Val159Gly)
c.545T>G (p.Val182Gly)
1g.6474582A>GCA338139642PLEKHG5c.308T>C (p.Val103Ala)
c.482T>C (p.Val161Ala)
c.419T>C (p.Val140Ala)
n.784T>C
c.515T>C (p.Val172Ala)
c.605T>C (p.Val202Ala)
c.*520T>C (n.*520T>C)
c.*136T>C (n.*136T>C)
c.270T>C (n.270T>C)
c.539T>C (p.Val180Ala)
c.476T>C (p.Val159Ala)
c.545T>C (p.Val182Ala)
1g.6474582A>TCA338139638PLEKHG5c.308T>A (p.Val103Glu)
c.482T>A (p.Val161Glu)
c.419T>A (p.Val140Glu)
n.784T>A
c.515T>A (p.Val172Glu)
c.605T>A (p.Val202Glu)
c.*520T>A (n.*520T>A)
c.*136T>A (n.*136T>A)
c.270T>A (n.270T>A)
c.539T>A (p.Val180Glu)
c.476T>A (p.Val159Glu)
c.545T>A (p.Val182Glu)
1g.6474583C>ACA338139645PLEKHG5c.307G>T (p.Val103Leu)
c.481G>T (p.Val161Leu)
c.418G>T (p.Val140Leu)
n.783G>T
c.514G>T (p.Val172Leu)
c.604G>T (p.Val202Leu)
c.*519G>T (n.*519G>T)
c.*135G>T (n.*135G>T)
c.269G>T (n.269G>T)
c.538G>T (p.Val180Leu)
c.475G>T (p.Val159Leu)
c.544G>T (p.Val182Leu)
 ClinVar dbSNP gnomAD v4
1g.6474583C=CA1141779039PLEKHG5c.307G= (p.Val103=)
c.481G= (p.Val161=)
c.418G= (p.Val140=)
n.783G=
c.514G= (p.Val172=)
c.604G= (p.Val202=)
c.*519G= (n.*519G=)
c.*135G= (n.*135G=)
c.269G= (n.269G=)
c.538G= (p.Val180=)
c.475G= (p.Val159=)
c.544G= (p.Val182=)
1g.6474583C>GCA338139648PLEKHG5c.307G>C (p.Val103Leu)
c.481G>C (p.Val161Leu)
c.418G>C (p.Val140Leu)
n.783G>C
c.514G>C (p.Val172Leu)
c.604G>C (p.Val202Leu)
c.*519G>C (n.*519G>C)
c.*135G>C (n.*135G>C)
c.269G>C (n.269G>C)
c.538G>C (p.Val180Leu)
c.475G>C (p.Val159Leu)
c.544G>C (p.Val182Leu)
1g.6474583C>TCA561882PLEKHG5c.307G>A (p.Val103Met)
c.481G>A (p.Val161Met)
c.418G>A (p.Val140Met)
n.783G>A
c.514G>A (p.Val172Met)
c.604G>A (p.Val202Met)
c.*519G>A (n.*519G>A)
c.*135G>A (n.*135G>A)
c.269G>A (n.269G>A)
c.538G>A (p.Val180Met)
c.475G>A (p.Val159Met)
c.544G>A (p.Val182Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474584C>ACA338139652PLEKHG5c.306G>T (p.Glu102Asp)
c.480G>T (p.Glu160Asp)
c.417G>T (p.Glu139Asp)
n.782G>T
c.513G>T (p.Glu171Asp)
c.603G>T (p.Glu201Asp)
c.*518G>T (n.*518G>T)
c.*134G>T (n.*134G>T)
c.268G>T (n.268G>T)
c.537G>T (p.Glu179Asp)
c.474G>T (p.Glu158Asp)
c.543G>T (p.Glu181Asp)
1g.6474584C>GCA338139654PLEKHG5c.306G>C (p.Glu102Asp)
c.480G>C (p.Glu160Asp)
c.417G>C (p.Glu139Asp)
n.782G>C
c.513G>C (p.Glu171Asp)
c.603G>C (p.Glu201Asp)
c.*518G>C (n.*518G>C)
c.*134G>C (n.*134G>C)
c.268G>C (n.268G>C)
c.537G>C (p.Glu179Asp)
c.474G>C (p.Glu158Asp)
c.543G>C (p.Glu181Asp)
1g.6474584C>TCA415834187PLEKHG5c.306G>A (p.Glu102=)
c.480G>A (p.Glu160=)
c.417G>A (p.Glu139=)
n.782G>A
c.513G>A (p.Glu171=)
c.603G>A (p.Glu201=)
c.*518G>A (n.*518G>A)
c.*134G>A (n.*134G>A)
c.268G>A (n.268G>A)
c.537G>A (p.Glu179=)
c.474G>A (p.Glu158=)
c.543G>A (p.Glu181=)
 gnomAD v4
1g.6474585T>ACA338139661PLEKHG5c.305A>T (p.Glu102Val)
c.479A>T (p.Glu160Val)
c.416A>T (p.Glu139Val)
n.781A>T
c.512A>T (p.Glu171Val)
c.602A>T (p.Glu201Val)
c.*517A>T (n.*517A>T)
c.*133A>T (n.*133A>T)
c.267A>T (n.267A>T)
c.536A>T (p.Glu179Val)
c.473A>T (p.Glu158Val)
c.542A>T (p.Glu181Val)
1g.6474585T>CCA338139657PLEKHG5c.305A>G (p.Glu102Gly)
c.479A>G (p.Glu160Gly)
c.416A>G (p.Glu139Gly)
n.781A>G
c.512A>G (p.Glu171Gly)
c.602A>G (p.Glu201Gly)
c.*517A>G (n.*517A>G)
c.*133A>G (n.*133A>G)
c.267A>G (n.267A>G)
c.536A>G (p.Glu179Gly)
c.473A>G (p.Glu158Gly)
c.542A>G (p.Glu181Gly)
1g.6474585T>GCA338139659PLEKHG5c.305A>C (p.Glu102Ala)
c.479A>C (p.Glu160Ala)
c.416A>C (p.Glu139Ala)
n.781A>C
c.512A>C (p.Glu171Ala)
c.602A>C (p.Glu201Ala)
c.*517A>C (n.*517A>C)
c.*133A>C (n.*133A>C)
c.267A>C (n.267A>C)
c.536A>C (p.Glu179Ala)
c.473A>C (p.Glu158Ala)
c.542A>C (p.Glu181Ala)
1g.6474586C>ACA338139665PLEKHG5c.304G>T (p.Glu102Ter)
c.478G>T (p.Glu160Ter)
c.415G>T (p.Glu139Ter)
n.780G>T
c.511G>T (p.Glu171Ter)
c.601G>T (p.Glu201Ter)
c.*516G>T (n.*516G>T)
c.*132G>T (n.*132G>T)
c.266G>T (n.266G>T)
c.535G>T (p.Glu179Ter)
c.472G>T (p.Glu158Ter)
c.541G>T (p.Glu181Ter)
 COSMIC COSMIC COSMIC
1g.6474586C>GCA338139667PLEKHG5c.304G>C (p.Glu102Gln)
c.478G>C (p.Glu160Gln)
c.415G>C (p.Glu139Gln)
n.780G>C
c.511G>C (p.Glu171Gln)
c.601G>C (p.Glu201Gln)
c.*516G>C (n.*516G>C)
c.*132G>C (n.*132G>C)
c.266G>C (n.266G>C)
c.535G>C (p.Glu179Gln)
c.472G>C (p.Glu158Gln)
c.541G>C (p.Glu181Gln)
1g.6474586C>TCA338139670PLEKHG5c.304G>A (p.Glu102Lys)
c.478G>A (p.Glu160Lys)
c.415G>A (p.Glu139Lys)
n.780G>A
c.511G>A (p.Glu171Lys)
c.601G>A (p.Glu201Lys)
c.*516G>A (n.*516G>A)
c.*132G>A (n.*132G>A)
c.266G>A (n.266G>A)
c.535G>A (p.Glu179Lys)
c.472G>A (p.Glu158Lys)
c.541G>A (p.Glu181Lys)
1g.6474587C>ACA17243815PLEKHG5c.303G>T (p.Gly101=)
c.477G>T (p.Gly159=)
c.414G>T (p.Gly138=)
n.779G>T
c.510G>T (p.Gly170=)
c.600G>T (p.Gly200=)
c.*515G>T (n.*515G>T)
c.*131G>T (n.*131G>T)
c.265G>T (n.265G>T)
c.534G>T (p.Gly178=)
c.471G>T (p.Gly157=)
c.540G>T (p.Gly180=)
 dbSNP gnomAD v2 gnomAD v4
1g.6474587C=CA1151507065PLEKHG5c.303G= (p.Gly101=)
c.477G= (p.Gly159=)
c.414G= (p.Gly138=)
n.779G=
c.510G= (p.Gly170=)
c.600G= (p.Gly200=)
c.*515G= (n.*515G=)
c.*131G= (n.*131G=)
c.265G= (n.265G=)
c.534G= (p.Gly178=)
c.471G= (p.Gly157=)
c.540G= (p.Gly180=)
1g.6474587C>GCA415834188PLEKHG5c.303G>C (p.Gly101=)
c.477G>C (p.Gly159=)
c.414G>C (p.Gly138=)
n.779G>C
c.510G>C (p.Gly170=)
c.600G>C (p.Gly200=)
c.*515G>C (n.*515G>C)
c.*131G>C (n.*131G>C)
c.265G>C (n.265G>C)
c.534G>C (p.Gly178=)
c.471G>C (p.Gly157=)
c.540G>C (p.Gly180=)
 dbSNP
1g.6474587C>TCA415834189PLEKHG5c.303G>A (p.Gly101=)
c.477G>A (p.Gly159=)
c.414G>A (p.Gly138=)
n.779G>A
c.510G>A (p.Gly170=)
c.600G>A (p.Gly200=)
c.*515G>A (n.*515G>A)
c.*131G>A (n.*131G>A)
c.265G>A (n.265G>A)
c.534G>A (p.Gly178=)
c.471G>A (p.Gly157=)
c.540G>A (p.Gly180=)
1g.6474588C>ACA338139673PLEKHG5c.303-1G>T (n.303-1G>T)
c.477-1G>T (n.477-1G>T)
c.414-1G>T (n.414-1G>T)
n.778G>T
c.510-1G>T (n.510-1G>T)
c.600-1G>T (n.600-1G>T)
c.*515-1G>T (n.*515-1G>T)
c.*131-1G>T (n.*131-1G>T)
c.265-1G>T (n.265-1G>T)
c.534-1G>T (n.534-1G>T)
c.471-1G>T (n.471-1G>T)
c.540-1G>T (n.540-1G>T)
1g.6474588C>GCA338139675PLEKHG5c.303-1G>C (n.303-1G>C)
c.477-1G>C (n.477-1G>C)
c.414-1G>C (n.414-1G>C)
n.778G>C
c.510-1G>C (n.510-1G>C)
c.600-1G>C (n.600-1G>C)
c.*515-1G>C (n.*515-1G>C)
c.*131-1G>C (n.*131-1G>C)
c.265-1G>C (n.265-1G>C)
c.534-1G>C (n.534-1G>C)
c.471-1G>C (n.471-1G>C)
c.540-1G>C (n.540-1G>C)
1g.6474588C>TCA338139677PLEKHG5c.303-1G>A (n.303-1G>A)
c.477-1G>A (n.477-1G>A)
c.414-1G>A (n.414-1G>A)
n.778G>A
c.510-1G>A (n.510-1G>A)
c.600-1G>A (n.600-1G>A)
c.*515-1G>A (n.*515-1G>A)
c.*131-1G>A (n.*131-1G>A)
c.265-1G>A (n.265-1G>A)
c.534-1G>A (n.534-1G>A)
c.471-1G>A (n.471-1G>A)
c.540-1G>A (n.540-1G>A)
1g.6474589T>ACA338139691PLEKHG5c.303-2A>T (n.303-2A>T)
c.477-2A>T (n.477-2A>T)
c.414-2A>T (n.414-2A>T)
n.777A>T
c.510-2A>T (n.510-2A>T)
c.600-2A>T (n.600-2A>T)
c.*515-2A>T (n.*515-2A>T)
c.*131-2A>T (n.*131-2A>T)
c.265-2A>T (n.265-2A>T)
c.534-2A>T (n.534-2A>T)
c.471-2A>T (n.471-2A>T)
c.540-2A>T (n.540-2A>T)
1g.6474589T>CCA338139694PLEKHG5c.303-2A>G (n.303-2A>G)
c.477-2A>G (n.477-2A>G)
c.414-2A>G (n.414-2A>G)
n.777A>G
c.510-2A>G (n.510-2A>G)
c.600-2A>G (n.600-2A>G)
c.*515-2A>G (n.*515-2A>G)
c.*131-2A>G (n.*131-2A>G)
c.265-2A>G (n.265-2A>G)
c.534-2A>G (n.534-2A>G)
c.471-2A>G (n.471-2A>G)
c.540-2A>G (n.540-2A>G)
 gnomAD v4
1g.6474589T>GCA338139682PLEKHG5c.303-2A>C (n.303-2A>C)
c.477-2A>C (n.477-2A>C)
c.414-2A>C (n.414-2A>C)
n.777A>C
c.510-2A>C (n.510-2A>C)
c.600-2A>C (n.600-2A>C)
c.*515-2A>C (n.*515-2A>C)
c.*131-2A>C (n.*131-2A>C)
c.265-2A>C (n.265-2A>C)
c.534-2A>C (n.534-2A>C)
c.471-2A>C (n.471-2A>C)
c.540-2A>C (n.540-2A>C)
1g.6474590G>ACA520766010PLEKHG5c.303-3C>T (n.303-3C>T)
c.477-3C>T (n.477-3C>T)
c.414-3C>T (n.414-3C>T)
n.776C>T
c.510-3C>T (n.510-3C>T)
c.600-3C>T (n.600-3C>T)
c.*515-3C>T (n.*515-3C>T)
c.*131-3C>T (n.*131-3C>T)
c.265-3C>T (n.265-3C>T)
c.534-3C>T (n.534-3C>T)
c.471-3C>T (n.471-3C>T)
c.540-3C>T (n.540-3C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.6474590G>CCA561883PLEKHG5c.303-3C>G (n.303-3C>G)
c.477-3C>G (n.477-3C>G)
c.414-3C>G (n.414-3C>G)
n.776C>G
c.510-3C>G (n.510-3C>G)
c.600-3C>G (n.600-3C>G)
c.*515-3C>G (n.*515-3C>G)
c.*131-3C>G (n.*131-3C>G)
c.265-3C>G (n.265-3C>G)
c.534-3C>G (n.534-3C>G)
c.471-3C>G (n.471-3C>G)
c.540-3C>G (n.540-3C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474590G=CA1151507068PLEKHG5c.303-3C= (n.303-3C=)
c.477-3C= (n.477-3C=)
c.414-3C= (n.414-3C=)
n.776C=
c.510-3C= (n.510-3C=)
c.600-3C= (n.600-3C=)
c.*515-3C= (n.*515-3C=)
c.*131-3C= (n.*131-3C=)
c.265-3C= (n.265-3C=)
c.534-3C= (n.534-3C=)
c.471-3C= (n.471-3C=)
c.540-3C= (n.540-3C=)
1g.6474591C=CA1148299649PLEKHG5c.303-4G= (n.303-4G=)
c.477-4G= (n.477-4G=)
c.414-4G= (n.414-4G=)
n.775G=
c.510-4G= (n.510-4G=)
c.600-4G= (n.600-4G=)
c.*515-4G= (n.*515-4G=)
c.*131-4G= (n.*131-4G=)
c.265-4G= (n.265-4G=)
c.534-4G= (n.534-4G=)
c.471-4G= (n.471-4G=)
c.540-4G= (n.540-4G=)
1g.6474591C>TCA561884PLEKHG5c.303-4G>A (n.303-4G>A)
c.477-4G>A (n.477-4G>A)
c.414-4G>A (n.414-4G>A)
n.775G>A
c.510-4G>A (n.510-4G>A)
c.600-4G>A (n.600-4G>A)
c.*515-4G>A (n.*515-4G>A)
c.*131-4G>A (n.*131-4G>A)
c.265-4G>A (n.265-4G>A)
c.534-4G>A (n.534-4G>A)
c.471-4G>A (n.471-4G>A)
c.540-4G>A (n.540-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474595delCA2556342326PLEKHG5c.303-4del (n.303-4del)
c.477-4del (n.477-4del)
c.414-4del (n.414-4del)
n.775del
c.510-4del (n.510-4del)
c.600-4del (n.600-4del)
c.*515-4del (n.*515-4del)
c.*131-4del (n.*131-4del)
c.265-4del (n.265-4del)
c.534-4del (n.534-4del)
c.471-4del (n.471-4del)
c.540-4del (n.540-4del)
1g.6474592C>ACA2642978925PLEKHG5c.303-5G>T (n.303-5G>T)
c.477-5G>T (n.477-5G>T)
c.414-5G>T (n.414-5G>T)
n.774G>T
c.510-5G>T (n.510-5G>T)
c.600-5G>T (n.600-5G>T)
c.*515-5G>T (n.*515-5G>T)
c.*131-5G>T (n.*131-5G>T)
c.265-5G>T (n.265-5G>T)
c.534-5G>T (n.534-5G>T)
c.471-5G>T (n.471-5G>T)
c.540-5G>T (n.540-5G>T)
 gnomAD v4
1g.6474592C>GCA2539439180PLEKHG5c.303-5G>C (n.303-5G>C)
c.477-5G>C (n.477-5G>C)
c.414-5G>C (n.414-5G>C)
n.774G>C
c.510-5G>C (n.510-5G>C)
c.600-5G>C (n.600-5G>C)
c.*515-5G>C (n.*515-5G>C)
c.*131-5G>C (n.*131-5G>C)
c.265-5G>C (n.265-5G>C)
c.534-5G>C (n.534-5G>C)
c.471-5G>C (n.471-5G>C)
c.540-5G>C (n.540-5G>C)
1g.6474593C=CA1151507072PLEKHG5c.303-6G= (n.303-6G=)
c.477-6G= (n.477-6G=)
c.414-6G= (n.414-6G=)
n.773G=
c.510-6G= (n.510-6G=)
c.600-6G= (n.600-6G=)
c.*515-6G= (n.*515-6G=)
c.*131-6G= (n.*131-6G=)
c.265-6G= (n.265-6G=)
c.534-6G= (n.534-6G=)
c.471-6G= (n.471-6G=)
c.540-6G= (n.540-6G=)
1g.6474593C>GCA1151507075PLEKHG5c.303-6G>C (n.303-6G>C)
c.477-6G>C (n.477-6G>C)
c.414-6G>C (n.414-6G>C)
n.773G>C
c.510-6G>C (n.510-6G>C)
c.600-6G>C (n.600-6G>C)
c.*515-6G>C (n.*515-6G>C)
c.*131-6G>C (n.*131-6G>C)
c.265-6G>C (n.265-6G>C)
c.534-6G>C (n.534-6G>C)
c.471-6G>C (n.471-6G>C)
c.540-6G>C (n.540-6G>C)
 dbSNP gnomAD v4
1g.6474593C>TCA2642978931PLEKHG5c.303-6G>A (n.303-6G>A)
c.477-6G>A (n.477-6G>A)
c.414-6G>A (n.414-6G>A)
n.773G>A
c.510-6G>A (n.510-6G>A)
c.600-6G>A (n.600-6G>A)
c.*515-6G>A (n.*515-6G>A)
c.*131-6G>A (n.*131-6G>A)
c.265-6G>A (n.265-6G>A)
c.534-6G>A (n.534-6G>A)
c.471-6G>A (n.471-6G>A)
c.540-6G>A (n.540-6G>A)
 gnomAD v4
1g.6474594C=CA1151507078PLEKHG5c.303-7G= (n.303-7G=)
c.477-7G= (n.477-7G=)
c.414-7G= (n.414-7G=)
n.772G=
c.510-7G= (n.510-7G=)
c.600-7G= (n.600-7G=)
c.*515-7G= (n.*515-7G=)
c.*131-7G= (n.*131-7G=)
c.265-7G= (n.265-7G=)
c.534-7G= (n.534-7G=)
c.471-7G= (n.471-7G=)
c.540-7G= (n.540-7G=)
1g.6474594C>GCA2573132146PLEKHG5c.303-7G>C (n.303-7G>C)
c.477-7G>C (n.477-7G>C)
c.414-7G>C (n.414-7G>C)
n.772G>C
c.510-7G>C (n.510-7G>C)
c.600-7G>C (n.600-7G>C)
c.*515-7G>C (n.*515-7G>C)
c.*131-7G>C (n.*131-7G>C)
c.265-7G>C (n.265-7G>C)
c.534-7G>C (n.534-7G>C)
c.471-7G>C (n.471-7G>C)
c.540-7G>C (n.540-7G>C)
 ClinVar dbSNP
1g.6474594C>TCA520766013PLEKHG5c.303-7G>A (n.303-7G>A)
c.477-7G>A (n.477-7G>A)
c.414-7G>A (n.414-7G>A)
n.772G>A
c.510-7G>A (n.510-7G>A)
c.600-7G>A (n.600-7G>A)
c.*515-7G>A (n.*515-7G>A)
c.*131-7G>A (n.*131-7G>A)
c.265-7G>A (n.265-7G>A)
c.534-7G>A (n.534-7G>A)
c.471-7G>A (n.471-7G>A)
c.540-7G>A (n.540-7G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.6474597G>TCA2642978949PLEKHG5c.303-10C>A (n.303-10C>A)
c.477-10C>A (n.477-10C>A)
c.414-10C>A (n.414-10C>A)
n.769C>A
c.510-10C>A (n.510-10C>A)
c.600-10C>A (n.600-10C>A)
c.*515-10C>A (n.*515-10C>A)
c.*131-10C>A (n.*131-10C>A)
c.265-10C>A (n.265-10C>A)
c.534-10C>A (n.534-10C>A)
c.471-10C>A (n.471-10C>A)
c.540-10C>A (n.540-10C>A)
 gnomAD v4
1g.6474598G>ACA2642978956PLEKHG5c.303-11C>T (n.303-11C>T)
c.477-11C>T (n.477-11C>T)
c.414-11C>T (n.414-11C>T)
n.768C>T
c.510-11C>T (n.510-11C>T)
c.600-11C>T (n.600-11C>T)
c.*515-11C>T (n.*515-11C>T)
c.*131-11C>T (n.*131-11C>T)
c.265-11C>T (n.265-11C>T)
c.534-11C>T (n.534-11C>T)
c.471-11C>T (n.471-11C>T)
c.540-11C>T (n.540-11C>T)
 gnomAD v4
1g.6474599A=CA1145848442PLEKHG5c.303-12T= (n.303-12T=)
c.477-12T= (n.477-12T=)
c.414-12T= (n.414-12T=)
n.767T=
c.510-12T= (n.510-12T=)
c.600-12T= (n.600-12T=)
c.*515-12T= (n.*515-12T=)
c.*131-12T= (n.*131-12T=)
c.265-12T= (n.265-12T=)
c.534-12T= (n.534-12T=)
c.471-12T= (n.471-12T=)
c.540-12T= (n.540-12T=)
1g.6474599A>CCA2642978993PLEKHG5c.303-12T>G (n.303-12T>G)
c.477-12T>G (n.477-12T>G)
c.414-12T>G (n.414-12T>G)
n.767T>G
c.510-12T>G (n.510-12T>G)
c.600-12T>G (n.600-12T>G)
c.*515-12T>G (n.*515-12T>G)
c.*131-12T>G (n.*131-12T>G)
c.265-12T>G (n.265-12T>G)
c.534-12T>G (n.534-12T>G)
c.471-12T>G (n.471-12T>G)
c.540-12T>G (n.540-12T>G)
 gnomAD v4
1g.6474599A>GCA561885PLEKHG5c.303-12T>C (n.303-12T>C)
c.477-12T>C (n.477-12T>C)
c.414-12T>C (n.414-12T>C)
n.767T>C
c.510-12T>C (n.510-12T>C)
c.600-12T>C (n.600-12T>C)
c.*515-12T>C (n.*515-12T>C)
c.*131-12T>C (n.*131-12T>C)
c.265-12T>C (n.265-12T>C)
c.534-12T>C (n.534-12T>C)
c.471-12T>C (n.471-12T>C)
c.540-12T>C (n.540-12T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474600C>GCA2642979000PLEKHG5c.303-13G>C (n.303-13G>C)
c.477-13G>C (n.477-13G>C)
c.414-13G>C (n.414-13G>C)
n.766G>C
c.510-13G>C (n.510-13G>C)
c.600-13G>C (n.600-13G>C)
c.*515-13G>C (n.*515-13G>C)
c.*131-13G>C (n.*131-13G>C)
c.265-13G>C (n.265-13G>C)
c.534-13G>C (n.534-13G>C)
c.471-13G>C (n.471-13G>C)
c.540-13G>C (n.540-13G>C)
 ClinVar gnomAD v4
1g.6474600C>TCA2695502608PLEKHG5c.303-13G>A (n.303-13G>A)
c.477-13G>A (n.477-13G>A)
c.414-13G>A (n.414-13G>A)
n.766G>A
c.510-13G>A (n.510-13G>A)
c.600-13G>A (n.600-13G>A)
c.*515-13G>A (n.*515-13G>A)
c.*131-13G>A (n.*131-13G>A)
c.265-13G>A (n.265-13G>A)
c.534-13G>A (n.534-13G>A)
c.471-13G>A (n.471-13G>A)
c.540-13G>A (n.540-13G>A)
 dbSNP
1g.6474601A>CCA2642979003PLEKHG5c.303-14T>G (n.303-14T>G)
c.477-14T>G (n.477-14T>G)
c.414-14T>G (n.414-14T>G)
n.765T>G
c.510-14T>G (n.510-14T>G)
c.600-14T>G (n.600-14T>G)
c.*515-14T>G (n.*515-14T>G)
c.*131-14T>G (n.*131-14T>G)
c.265-14T>G (n.265-14T>G)
c.534-14T>G (n.534-14T>G)
c.471-14T>G (n.471-14T>G)
c.540-14T>G (n.540-14T>G)
 gnomAD v4
1g.6474602G>ACA2592134455PLEKHG5c.303-15C>T (n.303-15C>T)
c.477-15C>T (n.477-15C>T)
c.414-15C>T (n.414-15C>T)
n.764C>T
c.510-15C>T (n.510-15C>T)
c.600-15C>T (n.600-15C>T)
c.*515-15C>T (n.*515-15C>T)
c.*131-15C>T (n.*131-15C>T)
c.265-15C>T (n.265-15C>T)
c.534-15C>T (n.534-15C>T)
c.471-15C>T (n.471-15C>T)
c.540-15C>T (n.540-15C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.6474602G>CCA2642979005PLEKHG5c.303-15C>G (n.303-15C>G)
c.477-15C>G (n.477-15C>G)
c.414-15C>G (n.414-15C>G)
n.764C>G
c.510-15C>G (n.510-15C>G)
c.600-15C>G (n.600-15C>G)
c.*515-15C>G (n.*515-15C>G)
c.*131-15C>G (n.*131-15C>G)
c.265-15C>G (n.265-15C>G)
c.534-15C>G (n.534-15C>G)
c.471-15C>G (n.471-15C>G)
c.540-15C>G (n.540-15C>G)
 gnomAD v4
1g.6474603G>ACA2573132147PLEKHG5c.303-16C>T (n.303-16C>T)
c.477-16C>T (n.477-16C>T)
c.414-16C>T (n.414-16C>T)
n.763C>T
c.510-16C>T (n.510-16C>T)
c.600-16C>T (n.600-16C>T)
c.*515-16C>T (n.*515-16C>T)
c.*131-16C>T (n.*131-16C>T)
c.265-16C>T (n.265-16C>T)
c.534-16C>T (n.534-16C>T)
c.471-16C>T (n.471-16C>T)
c.540-16C>T (n.540-16C>T)
 ClinVar dbSNP gnomAD v4
1g.6474604A=CA1151507084PLEKHG5c.303-17T= (n.303-17T=)
c.477-17T= (n.477-17T=)
c.414-17T= (n.414-17T=)
n.762T=
c.510-17T= (n.510-17T=)
c.600-17T= (n.600-17T=)
c.*515-17T= (n.*515-17T=)
c.*131-17T= (n.*131-17T=)
c.265-17T= (n.265-17T=)
c.534-17T= (n.534-17T=)
c.471-17T= (n.471-17T=)
c.540-17T= (n.540-17T=)
1g.6474604A>CCA2642979016PLEKHG5c.303-17T>G (n.303-17T>G)
c.477-17T>G (n.477-17T>G)
c.414-17T>G (n.414-17T>G)
n.762T>G
c.510-17T>G (n.510-17T>G)
c.600-17T>G (n.600-17T>G)
c.*515-17T>G (n.*515-17T>G)
c.*131-17T>G (n.*131-17T>G)
c.265-17T>G (n.265-17T>G)
c.534-17T>G (n.534-17T>G)
c.471-17T>G (n.471-17T>G)
c.540-17T>G (n.540-17T>G)
 gnomAD v4
1g.6474604A>TCA17243857PLEKHG5c.303-17T>A (n.303-17T>A)
c.477-17T>A (n.477-17T>A)
c.414-17T>A (n.414-17T>A)
n.762T>A
c.510-17T>A (n.510-17T>A)
c.600-17T>A (n.600-17T>A)
c.*515-17T>A (n.*515-17T>A)
c.*131-17T>A (n.*131-17T>A)
c.265-17T>A (n.265-17T>A)
c.534-17T>A (n.534-17T>A)
c.471-17T>A (n.471-17T>A)
c.540-17T>A (n.540-17T>A)
 dbSNP
1g.6474605G>ACA737854906PLEKHG5c.303-18C>T (n.303-18C>T)
c.477-18C>T (n.477-18C>T)
c.414-18C>T (n.414-18C>T)
n.761C>T
c.510-18C>T (n.510-18C>T)
c.600-18C>T (n.600-18C>T)
c.*515-18C>T (n.*515-18C>T)
c.*131-18C>T (n.*131-18C>T)
c.265-18C>T (n.265-18C>T)
c.534-18C>T (n.534-18C>T)
c.471-18C>T (n.471-18C>T)
c.540-18C>T (n.540-18C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.6474605G=CA1151507088PLEKHG5c.303-18C= (n.303-18C=)
c.477-18C= (n.477-18C=)
c.414-18C= (n.414-18C=)
n.761C=
c.510-18C= (n.510-18C=)
c.600-18C= (n.600-18C=)
c.*515-18C= (n.*515-18C=)
c.*131-18C= (n.*131-18C=)
c.265-18C= (n.265-18C=)
c.534-18C= (n.534-18C=)
c.471-18C= (n.471-18C=)
c.540-18C= (n.540-18C=)
1g.6474606G>ACA2574193639PLEKHG5c.303-19C>T (n.303-19C>T)
c.477-19C>T (n.477-19C>T)
c.414-19C>T (n.414-19C>T)
n.760C>T
c.510-19C>T (n.510-19C>T)
c.600-19C>T (n.600-19C>T)
c.*515-19C>T (n.*515-19C>T)
c.*131-19C>T (n.*131-19C>T)
c.265-19C>T (n.265-19C>T)
c.534-19C>T (n.534-19C>T)
c.471-19C>T (n.471-19C>T)
c.540-19C>T (n.540-19C>T)
 ClinVar gnomAD v4
1g.6474606G>CCA2740090549PLEKHG5c.303-19C>G (n.303-19C>G)
c.477-19C>G (n.477-19C>G)
c.414-19C>G (n.414-19C>G)
n.760C>G
c.510-19C>G (n.510-19C>G)
c.600-19C>G (n.600-19C>G)
c.*515-19C>G (n.*515-19C>G)
c.*131-19C>G (n.*131-19C>G)
c.265-19C>G (n.265-19C>G)
c.534-19C>G (n.534-19C>G)
c.471-19C>G (n.471-19C>G)
c.540-19C>G (n.540-19C>G)
 ClinVar
1g.6474607C=CA1151507092PLEKHG5c.303-20G= (n.303-20G=)
c.477-20G= (n.477-20G=)
c.414-20G= (n.414-20G=)
n.759G=
c.510-20G= (n.510-20G=)
c.600-20G= (n.600-20G=)
c.*515-20G= (n.*515-20G=)
c.*131-20G= (n.*131-20G=)
c.265-20G= (n.265-20G=)
c.534-20G= (n.534-20G=)
c.471-20G= (n.471-20G=)
c.540-20G= (n.540-20G=)
1g.6474607C>GCA2642979024PLEKHG5c.303-20G>C (n.303-20G>C)
c.477-20G>C (n.477-20G>C)
c.414-20G>C (n.414-20G>C)
n.759G>C
c.510-20G>C (n.510-20G>C)
c.600-20G>C (n.600-20G>C)
c.*515-20G>C (n.*515-20G>C)
c.*131-20G>C (n.*131-20G>C)
c.265-20G>C (n.265-20G>C)
c.534-20G>C (n.534-20G>C)
c.471-20G>C (n.471-20G>C)
c.540-20G>C (n.540-20G>C)
 gnomAD v4
1g.6474607C>TCA561886PLEKHG5c.303-20G>A (n.303-20G>A)
c.477-20G>A (n.477-20G>A)
c.414-20G>A (n.414-20G>A)
n.759G>A
c.510-20G>A (n.510-20G>A)
c.600-20G>A (n.600-20G>A)
c.*515-20G>A (n.*515-20G>A)
c.*131-20G>A (n.*131-20G>A)
c.265-20G>A (n.265-20G>A)
c.534-20G>A (n.534-20G>A)
c.471-20G>A (n.471-20G>A)
c.540-20G>A (n.540-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474608A=CA1149038646PLEKHG5c.303-21T= (n.303-21T=)
c.477-21T= (n.477-21T=)
c.414-21T= (n.414-21T=)
n.758T=
c.510-21T= (n.510-21T=)
c.600-21T= (n.600-21T=)
c.*515-21T= (n.*515-21T=)
c.*131-21T= (n.*131-21T=)
c.265-21T= (n.265-21T=)
c.534-21T= (n.534-21T=)
c.471-21T= (n.471-21T=)
c.540-21T= (n.540-21T=)
1g.6474608A>CCA561887PLEKHG5c.303-21T>G (n.303-21T>G)
c.477-21T>G (n.477-21T>G)
c.414-21T>G (n.414-21T>G)
n.758T>G
c.510-21T>G (n.510-21T>G)
c.600-21T>G (n.600-21T>G)
c.*515-21T>G (n.*515-21T>G)
c.*131-21T>G (n.*131-21T>G)
c.265-21T>G (n.265-21T>G)
c.534-21T>G (n.534-21T>G)
c.471-21T>G (n.471-21T>G)
c.540-21T>G (n.540-21T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474608A>GCA520766014PLEKHG5c.303-21T>C (n.303-21T>C)
c.477-21T>C (n.477-21T>C)
c.414-21T>C (n.414-21T>C)
n.758T>C
c.510-21T>C (n.510-21T>C)
c.600-21T>C (n.600-21T>C)
c.*515-21T>C (n.*515-21T>C)
c.*131-21T>C (n.*131-21T>C)
c.265-21T>C (n.265-21T>C)
c.534-21T>C (n.534-21T>C)
c.471-21T>C (n.471-21T>C)
c.540-21T>C (n.540-21T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474609T>ACA520766015PLEKHG5c.303-22A>T (n.303-22A>T)
c.477-22A>T (n.477-22A>T)
c.414-22A>T (n.414-22A>T)
n.757A>T
c.510-22A>T (n.510-22A>T)
c.600-22A>T (n.600-22A>T)
c.*515-22A>T (n.*515-22A>T)
c.*131-22A>T (n.*131-22A>T)
c.265-22A>T (n.265-22A>T)
c.534-22A>T (n.534-22A>T)
c.471-22A>T (n.471-22A>T)
c.540-22A>T (n.540-22A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.6474609T>CCA561888PLEKHG5c.303-22A>G (n.303-22A>G)
c.477-22A>G (n.477-22A>G)
c.414-22A>G (n.414-22A>G)
n.757A>G
c.510-22A>G (n.510-22A>G)
c.600-22A>G (n.600-22A>G)
c.*515-22A>G (n.*515-22A>G)
c.*131-22A>G (n.*131-22A>G)
c.265-22A>G (n.265-22A>G)
c.534-22A>G (n.534-22A>G)
c.471-22A>G (n.471-22A>G)
c.540-22A>G (n.540-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474609T=CA1151507116PLEKHG5c.303-22A= (n.303-22A=)
c.477-22A= (n.477-22A=)
c.414-22A= (n.414-22A=)
n.757A=
c.510-22A= (n.510-22A=)
c.600-22A= (n.600-22A=)
c.*515-22A= (n.*515-22A=)
c.*131-22A= (n.*131-22A=)
c.265-22A= (n.265-22A=)
c.534-22A= (n.534-22A=)
c.471-22A= (n.471-22A=)
c.540-22A= (n.540-22A=)
1g.6474614_6474615delCA2642979069PLEKHG5c.303-23_303-22del (n.303-23_303-22del)
c.477-23_477-22del (n.477-23_477-22del)
c.414-23_414-22del (n.414-23_414-22del)
n.756_757del
c.510-23_510-22del (n.510-23_510-22del)
c.600-23_600-22del (n.600-23_600-22del)
c.*515-23_*515-22del (n.*515-23_*515-22del)
c.*131-23_*131-22del (n.*131-23_*131-22del)
c.265-23_265-22del (n.265-23_265-22del)
c.534-23_534-22del (n.534-23_534-22del)
c.471-23_471-22del (n.471-23_471-22del)
c.540-23_540-22del (n.540-23_540-22del)
 gnomAD v4
1g.6474611T>CCA520766017PLEKHG5c.303-24A>G (n.303-24A>G)
c.477-24A>G (n.477-24A>G)
c.414-24A>G (n.414-24A>G)
n.755A>G
c.510-24A>G (n.510-24A>G)
c.600-24A>G (n.600-24A>G)
c.*515-24A>G (n.*515-24A>G)
c.*131-24A>G (n.*131-24A>G)
c.265-24A>G (n.265-24A>G)
c.534-24A>G (n.534-24A>G)
c.471-24A>G (n.471-24A>G)
c.540-24A>G (n.540-24A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.6474611T=CA1151507122PLEKHG5c.303-24A= (n.303-24A=)
c.477-24A= (n.477-24A=)
c.414-24A= (n.414-24A=)
n.755A=
c.510-24A= (n.510-24A=)
c.600-24A= (n.600-24A=)
c.*515-24A= (n.*515-24A=)
c.*131-24A= (n.*131-24A=)
c.265-24A= (n.265-24A=)
c.534-24A= (n.534-24A=)
c.471-24A= (n.471-24A=)
c.540-24A= (n.540-24A=)
1g.6474612G>TCA2574193642PLEKHG5c.303-25C>A (n.303-25C>A)
c.477-25C>A (n.477-25C>A)
c.414-25C>A (n.414-25C>A)
n.754C>A
c.510-25C>A (n.510-25C>A)
c.600-25C>A (n.600-25C>A)
c.*515-25C>A (n.*515-25C>A)
c.*131-25C>A (n.*131-25C>A)
c.265-25C>A (n.265-25C>A)
c.534-25C>A (n.534-25C>A)
c.471-25C>A (n.471-25C>A)
c.540-25C>A (n.540-25C>A)
 gnomAD v4
1g.6474614_6474633delCA2642979081PLEKHG5c.303-44_303-25del (n.303-44_303-25del)
c.477-44_477-25del (n.477-44_477-25del)
c.414-44_414-25del (n.414-44_414-25del)
n.735_754del
c.510-44_510-25del (n.510-44_510-25del)
c.600-44_600-25del (n.600-44_600-25del)
c.*515-44_*515-25del (n.*515-44_*515-25del)
c.*131-44_*131-25del (n.*131-44_*131-25del)
c.265-44_265-25del (n.265-44_265-25del)
c.534-44_534-25del (n.534-44_534-25del)
c.471-44_471-25del (n.471-44_471-25del)
c.540-44_540-25del (n.540-44_540-25del)
 gnomAD v4
1g.6474613T>GCA561889PLEKHG5c.303-26A>C (n.303-26A>C)
c.477-26A>C (n.477-26A>C)
c.414-26A>C (n.414-26A>C)
n.753A>C
c.510-26A>C (n.510-26A>C)
c.600-26A>C (n.600-26A>C)
c.*515-26A>C (n.*515-26A>C)
c.*131-26A>C (n.*131-26A>C)
c.265-26A>C (n.265-26A>C)
c.534-26A>C (n.534-26A>C)
c.471-26A>C (n.471-26A>C)
c.540-26A>C (n.540-26A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474613T=CA1151507126PLEKHG5c.303-26A= (n.303-26A=)
c.477-26A= (n.477-26A=)
c.414-26A= (n.414-26A=)
n.753A=
c.510-26A= (n.510-26A=)
c.600-26A= (n.600-26A=)
c.*515-26A= (n.*515-26A=)
c.*131-26A= (n.*131-26A=)
c.265-26A= (n.265-26A=)
c.534-26A= (n.534-26A=)
c.471-26A= (n.471-26A=)
c.540-26A= (n.540-26A=)
1g.6474614G>ACA561890PLEKHG5c.303-27C>T (n.303-27C>T)
c.477-27C>T (n.477-27C>T)
c.414-27C>T (n.414-27C>T)
n.752C>T
c.510-27C>T (n.510-27C>T)
c.600-27C>T (n.600-27C>T)
c.*515-27C>T (n.*515-27C>T)
c.*131-27C>T (n.*131-27C>T)
c.265-27C>T (n.265-27C>T)
c.534-27C>T (n.534-27C>T)
c.471-27C>T (n.471-27C>T)
c.540-27C>T (n.540-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474614G=CA1143954663PLEKHG5c.303-27C= (n.303-27C=)
c.477-27C= (n.477-27C=)
c.414-27C= (n.414-27C=)
n.752C=
c.510-27C= (n.510-27C=)
c.600-27C= (n.600-27C=)
c.*515-27C= (n.*515-27C=)
c.*131-27C= (n.*131-27C=)
c.265-27C= (n.265-27C=)
c.534-27C= (n.534-27C=)
c.471-27C= (n.471-27C=)
c.540-27C= (n.540-27C=)
1g.6474616delCA998179032PLEKHG5c.303-28del (n.303-28del)
c.477-28del (n.477-28del)
c.414-28del (n.414-28del)
n.751del
c.510-28del (n.510-28del)
c.600-28del (n.600-28del)
c.*515-28del (n.*515-28del)
c.*131-28del (n.*131-28del)
c.265-28del (n.265-28del)
c.534-28del (n.534-28del)
c.471-28del (n.471-28del)
c.540-28del (n.540-28del)
 gnomAD v3 gnomAD v4
1g.6474617A>GCA2642979091PLEKHG5c.303-30T>C (n.303-30T>C)
c.477-30T>C (n.477-30T>C)
c.414-30T>C (n.414-30T>C)
n.749T>C
c.510-30T>C (n.510-30T>C)
c.600-30T>C (n.600-30T>C)
c.*515-30T>C (n.*515-30T>C)
c.*131-30T>C (n.*131-30T>C)
c.265-30T>C (n.265-30T>C)
c.534-30T>C (n.534-30T>C)
c.471-30T>C (n.471-30T>C)
c.540-30T>C (n.540-30T>C)
 gnomAD v4
1g.6474619A=CA1151507139PLEKHG5c.303-32T= (n.303-32T=)
c.477-32T= (n.477-32T=)
c.414-32T= (n.414-32T=)
n.747T=
c.510-32T= (n.510-32T=)
c.600-32T= (n.600-32T=)
c.*515-32T= (n.*515-32T=)
c.*131-32T= (n.*131-32T=)
c.265-32T= (n.265-32T=)
c.534-32T= (n.534-32T=)
c.471-32T= (n.471-32T=)
c.540-32T= (n.540-32T=)
1g.6474619A>CCA561891PLEKHG5c.303-32T>G (n.303-32T>G)
c.477-32T>G (n.477-32T>G)
c.414-32T>G (n.414-32T>G)
n.747T>G
c.510-32T>G (n.510-32T>G)
c.600-32T>G (n.600-32T>G)
c.*515-32T>G (n.*515-32T>G)
c.*131-32T>G (n.*131-32T>G)
c.265-32T>G (n.265-32T>G)
c.534-32T>G (n.534-32T>G)
c.471-32T>G (n.471-32T>G)
c.540-32T>G (n.540-32T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474620A>TCA2574193653PLEKHG5c.303-33T>A (n.303-33T>A)
c.477-33T>A (n.477-33T>A)
c.414-33T>A (n.414-33T>A)
n.746T>A
c.510-33T>A (n.510-33T>A)
c.600-33T>A (n.600-33T>A)
c.*515-33T>A (n.*515-33T>A)
c.*131-33T>A (n.*131-33T>A)
c.265-33T>A (n.265-33T>A)
c.534-33T>A (n.534-33T>A)
c.471-33T>A (n.471-33T>A)
c.540-33T>A (n.540-33T>A)
 gnomAD v4
1g.6474620_6474628delinsACCAGGCGGCA1151507143PLEKHG5c.303-41_303-33delinsCCGCCTGGT (n.303-41_303-33delinsCCGCCTGGT)
c.477-41_477-33delinsCCGCCTGGT (n.477-41_477-33delinsCCGCCTGGT)
c.414-41_414-33delinsCCGCCTGGT (n.414-41_414-33delinsCCGCCTGGT)
n.738_746delinsCCGCCTGGT
c.510-41_510-33delinsCCGCCTGGT (n.510-41_510-33delinsCCGCCTGGT)
c.600-41_600-33delinsCCGCCTGGT (n.600-41_600-33delinsCCGCCTGGT)
c.*515-41_*515-33delinsCCGCCTGGT (n.*515-41_*515-33delinsCCGCCTGGT)
c.*131-41_*131-33delinsCCGCCTGGT (n.*131-41_*131-33delinsCCGCCTGGT)
c.265-41_265-33delinsCCGCCTGGT (n.265-41_265-33delinsCCGCCTGGT)
c.534-41_534-33delinsCCGCCTGGT (n.534-41_534-33delinsCCGCCTGGT)
c.471-41_471-33delinsCCGCCTGGT (n.471-41_471-33delinsCCGCCTGGT)
c.540-41_540-33delinsCCGCCTGGT (n.540-41_540-33delinsCCGCCTGGT)
1g.6474621C>ACA520766020PLEKHG5c.303-34G>T (n.303-34G>T)
c.477-34G>T (n.477-34G>T)
c.414-34G>T (n.414-34G>T)
n.745G>T
c.510-34G>T (n.510-34G>T)
c.600-34G>T (n.600-34G>T)
c.*515-34G>T (n.*515-34G>T)
c.*131-34G>T (n.*131-34G>T)
c.265-34G>T (n.265-34G>T)
c.534-34G>T (n.534-34G>T)
c.471-34G>T (n.471-34G>T)
c.540-34G>T (n.540-34G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.6474621C=CA1151507148PLEKHG5c.303-34G= (n.303-34G=)
c.477-34G= (n.477-34G=)
c.414-34G= (n.414-34G=)
n.745G=
c.510-34G= (n.510-34G=)
c.600-34G= (n.600-34G=)
c.*515-34G= (n.*515-34G=)
c.*131-34G= (n.*131-34G=)
c.265-34G= (n.265-34G=)
c.534-34G= (n.534-34G=)
c.471-34G= (n.471-34G=)
c.540-34G= (n.540-34G=)
1g.6474621C>GCA2742323558PLEKHG5c.303-34G>C (n.303-34G>C)
c.477-34G>C (n.477-34G>C)
c.414-34G>C (n.414-34G>C)
n.745G>C
c.510-34G>C (n.510-34G>C)
c.600-34G>C (n.600-34G>C)
c.*515-34G>C (n.*515-34G>C)
c.*131-34G>C (n.*131-34G>C)
c.265-34G>C (n.265-34G>C)
c.534-34G>C (n.534-34G>C)
c.471-34G>C (n.471-34G>C)
c.540-34G>C (n.540-34G>C)
1g.6474621C>TCA2642979107PLEKHG5c.303-34G>A (n.303-34G>A)
c.477-34G>A (n.477-34G>A)
c.414-34G>A (n.414-34G>A)
n.745G>A
c.510-34G>A (n.510-34G>A)
c.600-34G>A (n.600-34G>A)
c.*515-34G>A (n.*515-34G>A)
c.*131-34G>A (n.*131-34G>A)
c.265-34G>A (n.265-34G>A)
c.534-34G>A (n.534-34G>A)
c.471-34G>A (n.471-34G>A)
c.540-34G>A (n.540-34G>A)
 gnomAD v4
1g.6474625_6474632delCA1151507147PLEKHG5c.303-41_303-34del (n.303-41_303-34del)
c.477-41_477-34del (n.477-41_477-34del)
c.414-41_414-34del (n.414-41_414-34del)
n.738_745del
c.510-41_510-34del (n.510-41_510-34del)
c.600-41_600-34del (n.600-41_600-34del)
c.*515-41_*515-34del (n.*515-41_*515-34del)
c.*131-41_*131-34del (n.*131-41_*131-34del)
c.265-41_265-34del (n.265-41_265-34del)
c.534-41_534-34del (n.534-41_534-34del)
c.471-41_471-34del (n.471-41_471-34del)
c.540-41_540-34del (n.540-41_540-34del)
 dbSNP gnomAD v4
1g.6474622C>ACA561892PLEKHG5c.303-35G>T (n.303-35G>T)
c.477-35G>T (n.477-35G>T)
c.414-35G>T (n.414-35G>T)
n.744G>T
c.510-35G>T (n.510-35G>T)
c.600-35G>T (n.600-35G>T)
c.*515-35G>T (n.*515-35G>T)
c.*131-35G>T (n.*131-35G>T)
c.265-35G>T (n.265-35G>T)
c.534-35G>T (n.534-35G>T)
c.471-35G>T (n.471-35G>T)
c.540-35G>T (n.540-35G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474622C=CA1143425071PLEKHG5c.303-35G= (n.303-35G=)
c.477-35G= (n.477-35G=)
c.414-35G= (n.414-35G=)
n.744G=
c.510-35G= (n.510-35G=)
c.600-35G= (n.600-35G=)
c.*515-35G= (n.*515-35G=)
c.*131-35G= (n.*131-35G=)
c.265-35G= (n.265-35G=)
c.534-35G= (n.534-35G=)
c.471-35G= (n.471-35G=)
c.540-35G= (n.540-35G=)
1g.6474622C>TCA520766021PLEKHG5c.303-35G>A (n.303-35G>A)
c.477-35G>A (n.477-35G>A)
c.414-35G>A (n.414-35G>A)
n.744G>A
c.510-35G>A (n.510-35G>A)
c.600-35G>A (n.600-35G>A)
c.*515-35G>A (n.*515-35G>A)
c.*131-35G>A (n.*131-35G>A)
c.265-35G>A (n.265-35G>A)
c.534-35G>A (n.534-35G>A)
c.471-35G>A (n.471-35G>A)
c.540-35G>A (n.540-35G>A)
 dbSNP gnomAD v2
1g.6474624G>ACA1151507153PLEKHG5c.303-37C>T (n.303-37C>T)
c.477-37C>T (n.477-37C>T)
c.414-37C>T (n.414-37C>T)
n.742C>T
c.510-37C>T (n.510-37C>T)
c.600-37C>T (n.600-37C>T)
c.*515-37C>T (n.*515-37C>T)
c.*131-37C>T (n.*131-37C>T)
c.265-37C>T (n.265-37C>T)
c.534-37C>T (n.534-37C>T)
c.471-37C>T (n.471-37C>T)
c.540-37C>T (n.540-37C>T)
 dbSNP
1g.6474624G>CCA561893PLEKHG5c.303-37C>G (n.303-37C>G)
c.477-37C>G (n.477-37C>G)
c.414-37C>G (n.414-37C>G)
n.742C>G
c.510-37C>G (n.510-37C>G)
c.600-37C>G (n.600-37C>G)
c.*515-37C>G (n.*515-37C>G)
c.*131-37C>G (n.*131-37C>G)
c.265-37C>G (n.265-37C>G)
c.534-37C>G (n.534-37C>G)
c.471-37C>G (n.471-37C>G)
c.540-37C>G (n.540-37C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474624G=CA1151507152PLEKHG5c.303-37C= (n.303-37C=)
c.477-37C= (n.477-37C=)
c.414-37C= (n.414-37C=)
n.742C=
c.510-37C= (n.510-37C=)
c.600-37C= (n.600-37C=)
c.*515-37C= (n.*515-37C=)
c.*131-37C= (n.*131-37C=)
c.265-37C= (n.265-37C=)
c.534-37C= (n.534-37C=)
c.471-37C= (n.471-37C=)
c.540-37C= (n.540-37C=)
1g.6474624G>TCA737854943PLEKHG5c.303-37C>A (n.303-37C>A)
c.477-37C>A (n.477-37C>A)
c.414-37C>A (n.414-37C>A)
n.742C>A
c.510-37C>A (n.510-37C>A)
c.600-37C>A (n.600-37C>A)
c.*515-37C>A (n.*515-37C>A)
c.*131-37C>A (n.*131-37C>A)
c.265-37C>A (n.265-37C>A)
c.534-37C>A (n.534-37C>A)
c.471-37C>A (n.471-37C>A)
c.540-37C>A (n.540-37C>A)
 dbSNP
1g.6474626C>ACA2642979120PLEKHG5c.303-39G>T (n.303-39G>T)
c.477-39G>T (n.477-39G>T)
c.414-39G>T (n.414-39G>T)
n.740G>T
c.510-39G>T (n.510-39G>T)
c.600-39G>T (n.600-39G>T)
c.*515-39G>T (n.*515-39G>T)
c.*131-39G>T (n.*131-39G>T)
c.265-39G>T (n.265-39G>T)
c.534-39G>T (n.534-39G>T)
c.471-39G>T (n.471-39G>T)
c.540-39G>T (n.540-39G>T)
 gnomAD v4
1g.6474626C=CA1151507155PLEKHG5c.303-39G= (n.303-39G=)
c.477-39G= (n.477-39G=)
c.414-39G= (n.414-39G=)
n.740G=
c.510-39G= (n.510-39G=)
c.600-39G= (n.600-39G=)
c.*515-39G= (n.*515-39G=)
c.*131-39G= (n.*131-39G=)
c.265-39G= (n.265-39G=)
c.534-39G= (n.534-39G=)
c.471-39G= (n.471-39G=)
c.540-39G= (n.540-39G=)
1g.6474626C>GCA561894PLEKHG5c.303-39G>C (n.303-39G>C)
c.477-39G>C (n.477-39G>C)
c.414-39G>C (n.414-39G>C)
n.740G>C
c.510-39G>C (n.510-39G>C)
c.600-39G>C (n.600-39G>C)
c.*515-39G>C (n.*515-39G>C)
c.*131-39G>C (n.*131-39G>C)
c.265-39G>C (n.265-39G>C)
c.534-39G>C (n.534-39G>C)
c.471-39G>C (n.471-39G>C)
c.540-39G>C (n.540-39G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474626C>TCA561895PLEKHG5c.303-39G>A (n.303-39G>A)
c.477-39G>A (n.477-39G>A)
c.414-39G>A (n.414-39G>A)
n.740G>A
c.510-39G>A (n.510-39G>A)
c.600-39G>A (n.600-39G>A)
c.*515-39G>A (n.*515-39G>A)
c.*131-39G>A (n.*131-39G>A)
c.265-39G>A (n.265-39G>A)
c.534-39G>A (n.534-39G>A)
c.471-39G>A (n.471-39G>A)
c.540-39G>A (n.540-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474627G>ACA561896PLEKHG5c.303-40C>T (n.303-40C>T)
c.477-40C>T (n.477-40C>T)
c.414-40C>T (n.414-40C>T)
n.739C>T
c.510-40C>T (n.510-40C>T)
c.600-40C>T (n.600-40C>T)
c.*515-40C>T (n.*515-40C>T)
c.*131-40C>T (n.*131-40C>T)
c.265-40C>T (n.265-40C>T)
c.534-40C>T (n.534-40C>T)
c.471-40C>T (n.471-40C>T)
c.540-40C>T (n.540-40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474627G=CA1143558452PLEKHG5c.303-40C= (n.303-40C=)
c.477-40C= (n.477-40C=)
c.414-40C= (n.414-40C=)
n.739C=
c.510-40C= (n.510-40C=)
c.600-40C= (n.600-40C=)
c.*515-40C= (n.*515-40C=)
c.*131-40C= (n.*131-40C=)
c.265-40C= (n.265-40C=)
c.534-40C= (n.534-40C=)
c.471-40C= (n.471-40C=)
c.540-40C= (n.540-40C=)
1g.6474627G>TCA2642979126PLEKHG5c.303-40C>A (n.303-40C>A)
c.477-40C>A (n.477-40C>A)
c.414-40C>A (n.414-40C>A)
n.739C>A
c.510-40C>A (n.510-40C>A)
c.600-40C>A (n.600-40C>A)
c.*515-40C>A (n.*515-40C>A)
c.*131-40C>A (n.*131-40C>A)
c.265-40C>A (n.265-40C>A)
c.534-40C>A (n.534-40C>A)
c.471-40C>A (n.471-40C>A)
c.540-40C>A (n.540-40C>A)
 gnomAD v4
1g.6474628G=CA1151507160PLEKHG5c.303-41C= (n.303-41C=)
c.477-41C= (n.477-41C=)
c.414-41C= (n.414-41C=)
n.738C=
c.510-41C= (n.510-41C=)
c.600-41C= (n.600-41C=)
c.*515-41C= (n.*515-41C=)
c.*131-41C= (n.*131-41C=)
c.265-41C= (n.265-41C=)
c.534-41C= (n.534-41C=)
c.471-41C= (n.471-41C=)
c.540-41C= (n.540-41C=)
1g.6474628G>TCA561897PLEKHG5c.303-41C>A (n.303-41C>A)
c.477-41C>A (n.477-41C>A)
c.414-41C>A (n.414-41C>A)
n.738C>A
c.510-41C>A (n.510-41C>A)
c.600-41C>A (n.600-41C>A)
c.*515-41C>A (n.*515-41C>A)
c.*131-41C>A (n.*131-41C>A)
c.265-41C>A (n.265-41C>A)
c.534-41C>A (n.534-41C>A)
c.471-41C>A (n.471-41C>A)
c.540-41C>A (n.540-41C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474629C=CA1151507167PLEKHG5c.303-42G= (n.303-42G=)
c.477-42G= (n.477-42G=)
c.414-42G= (n.414-42G=)
n.737G=
c.510-42G= (n.510-42G=)
c.600-42G= (n.600-42G=)
c.*515-42G= (n.*515-42G=)
c.*131-42G= (n.*131-42G=)
c.265-42G= (n.265-42G=)
c.534-42G= (n.534-42G=)
c.471-42G= (n.471-42G=)
c.540-42G= (n.540-42G=)
1g.6474629C>TCA561898PLEKHG5c.303-42G>A (n.303-42G>A)
c.477-42G>A (n.477-42G>A)
c.414-42G>A (n.414-42G>A)
n.737G>A
c.510-42G>A (n.510-42G>A)
c.600-42G>A (n.600-42G>A)
c.*515-42G>A (n.*515-42G>A)
c.*131-42G>A (n.*131-42G>A)
c.265-42G>A (n.265-42G>A)
c.534-42G>A (n.534-42G>A)
c.471-42G>A (n.471-42G>A)
c.540-42G>A (n.540-42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6474630C=CA1151507172PLEKHG5c.303-43G= (n.303-43G=)
c.477-43G= (n.477-43G=)
c.414-43G= (n.414-43G=)
n.736G=
c.510-43G= (n.510-43G=)
c.600-43G= (n.600-43G=)
c.*515-43G= (n.*515-43G=)
c.*131-43G= (n.*131-43G=)
c.265-43G= (n.265-43G=)
c.534-43G= (n.534-43G=)
c.471-43G= (n.471-43G=)
c.540-43G= (n.540-43G=)
1g.6474630C>TCA737854952PLEKHG5c.303-43G>A (n.303-43G>A)
c.477-43G>A (n.477-43G>A)
c.414-43G>A (n.414-43G>A)
n.736G>A
c.510-43G>A (n.510-43G>A)
c.600-43G>A (n.600-43G>A)
c.*515-43G>A (n.*515-43G>A)
c.*131-43G>A (n.*131-43G>A)
c.265-43G>A (n.265-43G>A)
c.534-43G>A (n.534-43G>A)
c.471-43G>A (n.471-43G>A)
c.540-43G>A (n.540-43G>A)
 dbSNP
1g.6474631A=CA1151507175PLEKHG5c.303-44T= (n.303-44T=)
c.477-44T= (n.477-44T=)
c.414-44T= (n.414-44T=)
n.735T=
c.510-44T= (n.510-44T=)
c.600-44T= (n.600-44T=)
c.*515-44T= (n.*515-44T=)
c.*131-44T= (n.*131-44T=)
c.265-44T= (n.265-44T=)
c.534-44T= (n.534-44T=)
c.471-44T= (n.471-44T=)
c.540-44T= (n.540-44T=)
1g.6474631A>CCA998179038PLEKHG5c.303-44T>G (n.303-44T>G)
c.477-44T>G (n.477-44T>G)
c.414-44T>G (n.414-44T>G)
n.735T>G
c.510-44T>G (n.510-44T>G)
c.600-44T>G (n.600-44T>G)
c.*515-44T>G (n.*515-44T>G)
c.*131-44T>G (n.*131-44T>G)
c.265-44T>G (n.265-44T>G)
c.534-44T>G (n.534-44T>G)
c.471-44T>G (n.471-44T>G)
c.540-44T>G (n.540-44T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.6474634C>ACA561900PLEKHG5c.303-47G>T (n.303-47G>T)
c.477-47G>T (n.477-47G>T)
c.414-47G>T (n.414-47G>T)
n.732G>T
c.510-47G>T (n.510-47G>T)
c.600-47G>T (n.600-47G>T)
c.*515-47G>T (n.*515-47G>T)
c.*131-47G>T (n.*131-47G>T)
c.265-47G>T (n.265-47G>T)
c.534-47G>T (n.534-47G>T)
c.471-47G>T (n.471-47G>T)
c.540-47G>T (n.540-47G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474634C=CA1145020116PLEKHG5c.303-47G= (n.303-47G=)
c.477-47G= (n.477-47G=)
c.414-47G= (n.414-47G=)
n.732G=
c.510-47G= (n.510-47G=)
c.600-47G= (n.600-47G=)
c.*515-47G= (n.*515-47G=)
c.*131-47G= (n.*131-47G=)
c.265-47G= (n.265-47G=)
c.534-47G= (n.534-47G=)
c.471-47G= (n.471-47G=)
c.540-47G= (n.540-47G=)
1g.6474634C>TCA561899PLEKHG5c.303-47G>A (n.303-47G>A)
c.477-47G>A (n.477-47G>A)
c.414-47G>A (n.414-47G>A)
n.732G>A
c.510-47G>A (n.510-47G>A)
c.600-47G>A (n.600-47G>A)
c.*515-47G>A (n.*515-47G>A)
c.*131-47G>A (n.*131-47G>A)
c.265-47G>A (n.265-47G>A)
c.534-47G>A (n.534-47G>A)
c.471-47G>A (n.471-47G>A)
c.540-47G>A (n.540-47G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.6474635G>ACA561901PLEKHG5c.303-48C>T (n.303-48C>T)
c.477-48C>T (n.477-48C>T)
c.414-48C>T (n.414-48C>T)
n.731C>T
c.510-48C>T (n.510-48C>T)
c.600-48C>T (n.600-48C>T)
c.*515-48C>T (n.*515-48C>T)
c.*131-48C>T (n.*131-48C>T)
c.265-48C>T (n.265-48C>T)
c.534-48C>T (n.534-48C>T)
c.471-48C>T (n.471-48C>T)
c.540-48C>T (n.540-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6474635G>CCA2574193664PLEKHG5c.303-48C>G (n.303-48C>G)
c.477-48C>G (n.477-48C>G)
c.414-48C>G (n.414-48C>G)
n.731C>G
c.510-48C>G (n.510-48C>G)
c.600-48C>G (n.600-48C>G)
c.*515-48C>G (n.*515-48C>G)
c.*131-48C>G (n.*131-48C>G)
c.265-48C>G (n.265-48C>G)
c.534-48C>G (n.534-48C>G)
c.471-48C>G (n.471-48C>G)
c.540-48C>G (n.540-48C>G)
 gnomAD v4
1g.6474635G=CA1141242950PLEKHG5c.303-48C= (n.303-48C=)
c.477-48C= (n.477-48C=)
c.414-48C= (n.414-48C=)
n.731C=
c.510-48C= (n.510-48C=)
c.600-48C= (n.600-48C=)
c.*515-48C= (n.*515-48C=)
c.*131-48C= (n.*131-48C=)
c.265-48C= (n.265-48C=)
c.534-48C= (n.534-48C=)
c.471-48C= (n.471-48C=)
c.540-48C= (n.540-48C=)
1g.6474635G>TCA2642979152PLEKHG5c.303-48C>A (n.303-48C>A)
c.477-48C>A (n.477-48C>A)
c.414-48C>A (n.414-48C>A)
n.731C>A
c.510-48C>A (n.510-48C>A)
c.600-48C>A (n.600-48C>A)
c.*515-48C>A (n.*515-48C>A)
c.*131-48C>A (n.*131-48C>A)
c.265-48C>A (n.265-48C>A)
c.534-48C>A (n.534-48C>A)
c.471-48C>A (n.471-48C>A)
c.540-48C>A (n.540-48C>A)
 gnomAD v4
1g.6474639C>ACA2642979155PLEKHG5c.303-52G>T (n.303-52G>T)
c.477-52G>T (n.477-52G>T)
c.414-52G>T (n.414-52G>T)
n.727G>T
c.510-52G>T (n.510-52G>T)
c.600-52G>T (n.600-52G>T)
c.*515-52G>T (n.*515-52G>T)
c.*131-52G>T (n.*131-52G>T)
c.265-52G>T (n.265-52G>T)
c.534-52G>T (n.534-52G>T)
c.471-52G>T (n.471-52G>T)
c.540-52G>T (n.540-52G>T)
 gnomAD v4
1g.6474640A>GCA2642979158PLEKHG5c.303-53T>C (n.303-53T>C)
c.477-53T>C (n.477-53T>C)
c.414-53T>C (n.414-53T>C)
n.726T>C
c.510-53T>C (n.510-53T>C)
c.600-53T>C (n.600-53T>C)
c.*515-53T>C (n.*515-53T>C)
c.*131-53T>C (n.*131-53T>C)
c.265-53T>C (n.265-53T>C)
c.534-53T>C (n.534-53T>C)
c.471-53T>C (n.471-53T>C)
c.540-53T>C (n.540-53T>C)
 gnomAD v4
1g.6474641G>TCA2642979165PLEKHG5c.303-54C>A (n.303-54C>A)
c.477-54C>A (n.477-54C>A)
c.414-54C>A (n.414-54C>A)
n.725C>A
c.510-54C>A (n.510-54C>A)
c.600-54C>A (n.600-54C>A)
c.*515-54C>A (n.*515-54C>A)
c.*131-54C>A (n.*131-54C>A)
c.265-54C>A (n.265-54C>A)
c.534-54C>A (n.534-54C>A)
c.471-54C>A (n.471-54C>A)
c.540-54C>A (n.540-54C>A)
 gnomAD v4
1g.6474643T>CCA2642979168PLEKHG5c.303-56A>G (n.303-56A>G)
c.477-56A>G (n.477-56A>G)
c.414-56A>G (n.414-56A>G)
n.723A>G
c.510-56A>G (n.510-56A>G)
c.600-56A>G (n.600-56A>G)
c.*515-56A>G (n.*515-56A>G)
c.*131-56A>G (n.*131-56A>G)
c.264+54A>G (n.264+54A>G)
c.534-56A>G (n.534-56A>G)
c.471-56A>G (n.471-56A>G)
c.540-56A>G (n.540-56A>G)
 gnomAD v4
1g.6474644delCA2574193665PLEKHG5c.303-56del (n.303-56del)
c.477-56del (n.477-56del)
c.414-56del (n.414-56del)
n.723del
c.510-56del (n.510-56del)
c.600-56del (n.600-56del)
c.*515-56del (n.*515-56del)
c.*131-56del (n.*131-56del)
c.264+54del (n.264+54del)
c.534-56del (n.534-56del)
c.471-56del (n.471-56del)
c.540-56del (n.540-56del)
1g.6474644T>CCA2695502639PLEKHG5c.303-57A>G (n.303-57A>G)
c.477-57A>G (n.477-57A>G)
c.414-57A>G (n.414-57A>G)
n.722A>G
c.510-57A>G (n.510-57A>G)
c.600-57A>G (n.600-57A>G)
c.*515-57A>G (n.*515-57A>G)
c.*131-57A>G (n.*131-57A>G)
c.264+53A>G (n.264+53A>G)
c.534-57A>G (n.534-57A>G)
c.471-57A>G (n.471-57A>G)
c.540-57A>G (n.540-57A>G)
 dbSNP
1g.6474645G>ACA2742323559PLEKHG5c.303-58C>T (n.303-58C>T)
c.477-58C>T (n.477-58C>T)
c.414-58C>T (n.414-58C>T)
n.721C>T
c.510-58C>T (n.510-58C>T)
c.600-58C>T (n.600-58C>T)
c.*515-58C>T (n.*515-58C>T)
c.*131-58C>T (n.*131-58C>T)
c.264+52C>T (n.264+52C>T)
c.534-58C>T (n.534-58C>T)
c.471-58C>T (n.471-58C>T)
c.540-58C>T (n.540-58C>T)
1g.6474645G>TCA2642979171PLEKHG5c.303-58C>A (n.303-58C>A)
c.477-58C>A (n.477-58C>A)
c.414-58C>A (n.414-58C>A)
n.721C>A
c.510-58C>A (n.510-58C>A)
c.600-58C>A (n.600-58C>A)
c.*515-58C>A (n.*515-58C>A)
c.*131-58C>A (n.*131-58C>A)
c.264+52C>A (n.264+52C>A)
c.534-58C>A (n.534-58C>A)
c.471-58C>A (n.471-58C>A)
c.540-58C>A (n.540-58C>A)
 gnomAD v4
1g.6474647dupCA2574193667PLEKHG5c.303-58dup (n.303-58dup)
c.477-58dup (n.477-58dup)
c.414-58dup (n.414-58dup)
n.721dup
c.510-58dup (n.510-58dup)
c.600-58dup (n.600-58dup)
c.*515-58dup (n.*515-58dup)
c.*131-58dup (n.*131-58dup)
c.264+52dup (n.264+52dup)
c.534-58dup (n.534-58dup)
c.471-58dup (n.471-58dup)
c.540-58dup (n.540-58dup)
 gnomAD v4
1g.6474647delCA2574193668PLEKHG5c.303-58del (n.303-58del)
c.477-58del (n.477-58del)
c.414-58del (n.414-58del)
n.721del
c.510-58del (n.510-58del)
c.600-58del (n.600-58del)
c.*515-58del (n.*515-58del)
c.*131-58del (n.*131-58del)
c.264+52del (n.264+52del)
c.534-58del (n.534-58del)
c.471-58del (n.471-58del)
c.540-58del (n.540-58del)
1g.6474646G>TCA2642979174PLEKHG5c.303-59C>A (n.303-59C>A)
c.477-59C>A (n.477-59C>A)
c.414-59C>A (n.414-59C>A)
n.720C>A
c.510-59C>A (n.510-59C>A)
c.600-59C>A (n.600-59C>A)
c.*515-59C>A (n.*515-59C>A)
c.*131-59C>A (n.*131-59C>A)
c.264+51C>A (n.264+51C>A)
c.534-59C>A (n.534-59C>A)
c.471-59C>A (n.471-59C>A)
c.540-59C>A (n.540-59C>A)
 gnomAD v4
1g.6474647G=CA1151507189PLEKHG5c.303-60C= (n.303-60C=)
c.477-60C= (n.477-60C=)
c.414-60C= (n.414-60C=)
n.719C=
c.510-60C= (n.510-60C=)
c.600-60C= (n.600-60C=)
c.*515-60C= (n.*515-60C=)
c.*131-60C= (n.*131-60C=)
c.264+50C= (n.264+50C=)
c.534-60C= (n.534-60C=)
c.471-60C= (n.471-60C=)
c.540-60C= (n.540-60C=)
1g.6474647G>TCA1151507190PLEKHG5c.303-60C>A (n.303-60C>A)
c.477-60C>A (n.477-60C>A)
c.414-60C>A (n.414-60C>A)
n.719C>A
c.510-60C>A (n.510-60C>A)
c.600-60C>A (n.600-60C>A)
c.*515-60C>A (n.*515-60C>A)
c.*131-60C>A (n.*131-60C>A)
c.264+50C>A (n.264+50C>A)
c.534-60C>A (n.534-60C>A)
c.471-60C>A (n.471-60C>A)
c.540-60C>A (n.540-60C>A)
 dbSNP gnomAD v4
1g.6474647_6474648insGCCA2642979243PLEKHG5c.303-61_303-60insGC (n.303-61_303-60insGC)
c.477-61_477-60insGC (n.477-61_477-60insGC)
c.414-61_414-60insGC (n.414-61_414-60insGC)
n.718_719insGC
c.510-61_510-60insGC (n.510-61_510-60insGC)
c.600-61_600-60insGC (n.600-61_600-60insGC)
c.*515-61_*515-60insGC (n.*515-61_*515-60insGC)
c.*131-61_*131-60insGC (n.*131-61_*131-60insGC)
c.264+49_264+50insGC (n.264+49_264+50insGC)
c.534-61_534-60insGC (n.534-61_534-60insGC)
c.471-61_471-60insGC (n.471-61_471-60insGC)
c.540-61_540-60insGC (n.540-61_540-60insGC)
 gnomAD v4
1g.6474647_6474648insGCCCA2592134457PLEKHG5c.303-61_303-60insGGC (n.303-61_303-60insGGC)
c.477-61_477-60insGGC (n.477-61_477-60insGGC)
c.414-61_414-60insGGC (n.414-61_414-60insGGC)
n.718_719insGGC
c.510-61_510-60insGGC (n.510-61_510-60insGGC)
c.600-61_600-60insGGC (n.600-61_600-60insGGC)
c.*515-61_*515-60insGGC (n.*515-61_*515-60insGGC)
c.*131-61_*131-60insGGC (n.*131-61_*131-60insGGC)
c.264+49_264+50insGGC (n.264+49_264+50insGGC)
c.534-61_534-60insGGC (n.534-61_534-60insGGC)
c.471-61_471-60insGGC (n.471-61_471-60insGGC)
c.540-61_540-60insGGC (n.540-61_540-60insGGC)
 gnomAD v3 gnomAD v4
1g.6474647_6474648insGCCCCA2642979246PLEKHG5c.303-61_303-60insGGGC (n.303-61_303-60insGGGC)
c.477-61_477-60insGGGC (n.477-61_477-60insGGGC)
c.414-61_414-60insGGGC (n.414-61_414-60insGGGC)
n.718_719insGGGC
c.510-61_510-60insGGGC (n.510-61_510-60insGGGC)
c.600-61_600-60insGGGC (n.600-61_600-60insGGGC)
c.*515-61_*515-60insGGGC (n.*515-61_*515-60insGGGC)
c.*131-61_*131-60insGGGC (n.*131-61_*131-60insGGGC)
c.264+49_264+50insGGGC (n.264+49_264+50insGGGC)
c.534-61_534-60insGGGC (n.534-61_534-60insGGGC)
c.471-61_471-60insGGGC (n.471-61_471-60insGGGC)
c.540-61_540-60insGGGC (n.540-61_540-60insGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCA2592134456PLEKHG5c.303-61_303-60insGGGGC (n.303-61_303-60insGGGGC)
c.477-61_477-60insGGGGC (n.477-61_477-60insGGGGC)
c.414-61_414-60insGGGGC (n.414-61_414-60insGGGGC)
n.718_719insGGGGC
c.510-61_510-60insGGGGC (n.510-61_510-60insGGGGC)
c.600-61_600-60insGGGGC (n.600-61_600-60insGGGGC)
c.*515-61_*515-60insGGGGC (n.*515-61_*515-60insGGGGC)
c.*131-61_*131-60insGGGGC (n.*131-61_*131-60insGGGGC)
c.264+49_264+50insGGGGC (n.264+49_264+50insGGGGC)
c.534-61_534-60insGGGGC (n.534-61_534-60insGGGGC)
c.471-61_471-60insGGGGC (n.471-61_471-60insGGGGC)
c.540-61_540-60insGGGGC (n.540-61_540-60insGGGGC)
 gnomAD v3 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCA1151507198PLEKHG5c.303-61_303-60insGGGGGGGGC (n.303-61_303-60insGGGGGGGGC)
c.477-61_477-60insGGGGGGGGC (n.477-61_477-60insGGGGGGGGC)
c.414-61_414-60insGGGGGGGGC (n.414-61_414-60insGGGGGGGGC)
n.718_719insGGGGGGGGC
c.510-61_510-60insGGGGGGGGC (n.510-61_510-60insGGGGGGGGC)
c.600-61_600-60insGGGGGGGGC (n.600-61_600-60insGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGC)
c.264+49_264+50insGGGGGGGGC (n.264+49_264+50insGGGGGGGGC)
c.534-61_534-60insGGGGGGGGC (n.534-61_534-60insGGGGGGGGC)
c.471-61_471-60insGGGGGGGGC (n.471-61_471-60insGGGGGGGGC)
c.540-61_540-60insGGGGGGGGC (n.540-61_540-60insGGGGGGGGC)
 dbSNP gnomAD v3 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCA2642979256PLEKHG5c.303-61_303-60insGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGC)
n.718_719insGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCA2642979261PLEKHG5c.303-61_303-60insGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGC)
n.718_719insGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCCA2642979263PLEKHG5c.303-61_303-60insGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGC)
n.718_719insGGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCA2642979268PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979240PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979278PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.6474647_6474648insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979270PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
1g.6474648C>ACA17243949PLEKHG5c.303-61G>T (n.303-61G>T)
c.477-61G>T (n.477-61G>T)
c.414-61G>T (n.414-61G>T)
n.718G>T
c.510-61G>T (n.510-61G>T)
c.600-61G>T (n.600-61G>T)
c.*515-61G>T (n.*515-61G>T)
c.*131-61G>T (n.*131-61G>T)
c.264+49G>T (n.264+49G>T)
c.534-61G>T (n.534-61G>T)
c.471-61G>T (n.471-61G>T)
c.540-61G>T (n.540-61G>T)
 dbSNP gnomAD v3 gnomAD v4
1g.6474648C=CA1151507201PLEKHG5c.303-61G= (n.303-61G=)
c.477-61G= (n.477-61G=)
c.414-61G= (n.414-61G=)
n.718G=
c.510-61G= (n.510-61G=)
c.600-61G= (n.600-61G=)
c.*515-61G= (n.*515-61G=)
c.*131-61G= (n.*131-61G=)
c.264+49G= (n.264+49G=)
c.534-61G= (n.534-61G=)
c.471-61G= (n.471-61G=)
c.540-61G= (n.540-61G=)
1g.6474648C>GCA1151507200PLEKHG5c.303-61G>C (n.303-61G>C)
c.477-61G>C (n.477-61G>C)
c.414-61G>C (n.414-61G>C)
n.718G>C
c.510-61G>C (n.510-61G>C)
c.600-61G>C (n.600-61G>C)
c.*515-61G>C (n.*515-61G>C)
c.*131-61G>C (n.*131-61G>C)
c.264+49G>C (n.264+49G>C)
c.534-61G>C (n.534-61G>C)
c.471-61G>C (n.471-61G>C)
c.540-61G>C (n.540-61G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.6474648C>TCA2574193676PLEKHG5c.303-61G>A (n.303-61G>A)
c.477-61G>A (n.477-61G>A)
c.414-61G>A (n.414-61G>A)
n.718G>A
c.510-61G>A (n.510-61G>A)
c.600-61G>A (n.600-61G>A)
c.*515-61G>A (n.*515-61G>A)
c.*131-61G>A (n.*131-61G>A)
c.264+49G>A (n.264+49G>A)
c.534-61G>A (n.534-61G>A)
c.471-61G>A (n.471-61G>A)
c.540-61G>A (n.540-61G>A)
 gnomAD v4
1g.6474648_6474651delCA2642979282PLEKHG5c.303-64_303-61del (n.303-64_303-61del)
c.477-64_477-61del (n.477-64_477-61del)
c.414-64_414-61del (n.414-64_414-61del)
n.715_718del
c.510-64_510-61del (n.510-64_510-61del)
c.600-64_600-61del (n.600-64_600-61del)
c.*515-64_*515-61del (n.*515-64_*515-61del)
c.*131-64_*131-61del (n.*131-64_*131-61del)
c.264+46_264+49del (n.264+46_264+49del)
c.534-64_534-61del (n.534-64_534-61del)
c.471-64_471-61del (n.471-64_471-61del)
c.540-64_540-61del (n.540-64_540-61del)
 gnomAD v4
1g.6474651_6474652insCCCCCCA2642979302PLEKHG5c.303-61_303-60insGGGGG (n.303-61_303-60insGGGGG)
c.477-61_477-60insGGGGG (n.477-61_477-60insGGGGG)
c.414-61_414-60insGGGGG (n.414-61_414-60insGGGGG)
n.718_719insGGGGG
c.510-61_510-60insGGGGG (n.510-61_510-60insGGGGG)
c.600-61_600-60insGGGGG (n.600-61_600-60insGGGGG)
c.*515-61_*515-60insGGGGG (n.*515-61_*515-60insGGGGG)
c.*131-61_*131-60insGGGGG (n.*131-61_*131-60insGGGGG)
c.264+49_264+50insGGGGG (n.264+49_264+50insGGGGG)
c.534-61_534-60insGGGGG (n.534-61_534-60insGGGGG)
c.471-61_471-60insGGGGG (n.471-61_471-60insGGGGG)
c.540-61_540-60insGGGGG (n.540-61_540-60insGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCA2695262128PLEKHG5c.303-61_303-60insGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGG)
n.718_719insGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGG)
 dbSNP
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCA2642979315PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCA2642979343PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCA2592134458PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979385PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCACCCCCCCCCCCCCCCCCCCCA2642979304PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGTGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2592134460PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979377PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCAACCCCCCCCCCCCCCCCCCCCCA998179060PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGTTGGGGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCA2592134459PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
 gnomAD v3 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCA2642979312PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979335PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCAGCCCCCCCCCCCCCCCCCACCCCCCCCCA2642979310PLEKHG5c.303-61_303-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.303-61_303-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.477-61_477-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.477-61_477-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.414-61_414-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.414-61_414-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
n.718_719insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG
c.510-61_510-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.510-61_510-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.600-61_600-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.600-61_600-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.264+49_264+50insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.264+49_264+50insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.534-61_534-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.534-61_534-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.471-61_471-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.471-61_471-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
c.540-61_540-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG (n.540-61_540-60insGGGGTGGGGGGGGGGGGGGGGGCTGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2742323560PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979326PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979323PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979292PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA2642979320PLEKHG5c.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-61_303-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-61_477-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-61_414-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.718_719insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-61_510-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-61_600-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-61_*515-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-61_*131-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+49_264+50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-61_534-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-61_471-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-61_540-60insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474651dupCA415834190PLEKHG5c.303-61dup (n.303-61dup)
c.477-61dup (n.477-61dup)
c.414-61dup (n.414-61dup)
n.718dup
c.510-61dup (n.510-61dup)
c.600-61dup (n.600-61dup)
c.*515-61dup (n.*515-61dup)
c.*131-61dup (n.*131-61dup)
c.264+49dup (n.264+49dup)
c.534-61dup (n.534-61dup)
c.471-61dup (n.471-61dup)
c.540-61dup (n.540-61dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474650_6474651dupCA2642979295PLEKHG5c.303-62_303-61dup (n.303-62_303-61dup)
c.477-62_477-61dup (n.477-62_477-61dup)
c.414-62_414-61dup (n.414-62_414-61dup)
n.717_718dup
c.510-62_510-61dup (n.510-62_510-61dup)
c.600-62_600-61dup (n.600-62_600-61dup)
c.*515-62_*515-61dup (n.*515-62_*515-61dup)
c.*131-62_*131-61dup (n.*131-62_*131-61dup)
c.264+48_264+49dup (n.264+48_264+49dup)
c.534-62_534-61dup (n.534-62_534-61dup)
c.471-62_471-61dup (n.471-62_471-61dup)
c.540-62_540-61dup (n.540-62_540-61dup)
 gnomAD v4
1g.6474649_6474651dupCA998179055PLEKHG5c.303-63_303-61dup (n.303-63_303-61dup)
c.477-63_477-61dup (n.477-63_477-61dup)
c.414-63_414-61dup (n.414-63_414-61dup)
n.716_718dup
c.510-63_510-61dup (n.510-63_510-61dup)
c.600-63_600-61dup (n.600-63_600-61dup)
c.*515-63_*515-61dup (n.*515-63_*515-61dup)
c.*131-63_*131-61dup (n.*131-63_*131-61dup)
c.264+47_264+49dup (n.264+47_264+49dup)
c.534-63_534-61dup (n.534-63_534-61dup)
c.471-63_471-61dup (n.471-63_471-61dup)
c.540-63_540-61dup (n.540-63_540-61dup)
 gnomAD v3 gnomAD v4
1g.6474648_6474651dupCA998179057PLEKHG5c.303-64_303-61dup (n.303-64_303-61dup)
c.477-64_477-61dup (n.477-64_477-61dup)
c.414-64_414-61dup (n.414-64_414-61dup)
n.715_718dup
c.510-64_510-61dup (n.510-64_510-61dup)
c.600-64_600-61dup (n.600-64_600-61dup)
c.*515-64_*515-61dup (n.*515-64_*515-61dup)
c.*131-64_*131-61dup (n.*131-64_*131-61dup)
c.264+46_264+49dup (n.264+46_264+49dup)
c.534-64_534-61dup (n.534-64_534-61dup)
c.471-64_471-61dup (n.471-64_471-61dup)
c.540-64_540-61dup (n.540-64_540-61dup)
 dbSNP gnomAD v3 gnomAD v4
1g.6474651delCA2574193674PLEKHG5c.303-61del (n.303-61del)
c.477-61del (n.477-61del)
c.414-61del (n.414-61del)
n.718del
c.510-61del (n.510-61del)
c.600-61del (n.600-61del)
c.*515-61del (n.*515-61del)
c.*131-61del (n.*131-61del)
c.264+49del (n.264+49del)
c.534-61del (n.534-61del)
c.471-61del (n.471-61del)
c.540-61del (n.540-61del)
 gnomAD v4
1g.6474657_6474672delCA998179084PLEKHG5c.303-76_303-61del (n.303-76_303-61del)
c.477-76_477-61del (n.477-76_477-61del)
c.414-76_414-61del (n.414-76_414-61del)
n.703_718del
c.510-76_510-61del (n.510-76_510-61del)
c.600-76_600-61del (n.600-76_600-61del)
c.*515-76_*515-61del (n.*515-76_*515-61del)
c.*131-76_*131-61del (n.*131-76_*131-61del)
c.264+34_264+49del (n.264+34_264+49del)
c.534-76_534-61del (n.534-76_534-61del)
c.471-76_471-61del (n.471-76_471-61del)
c.540-76_540-61del (n.540-76_540-61del)
 gnomAD v3 gnomAD v4
1g.6474649C>ACA2642979400PLEKHG5c.303-62G>T (n.303-62G>T)
c.477-62G>T (n.477-62G>T)
c.414-62G>T (n.414-62G>T)
n.717G>T
c.510-62G>T (n.510-62G>T)
c.600-62G>T (n.600-62G>T)
c.*515-62G>T (n.*515-62G>T)
c.*131-62G>T (n.*131-62G>T)
c.264+48G>T (n.264+48G>T)
c.534-62G>T (n.534-62G>T)
c.471-62G>T (n.471-62G>T)
c.540-62G>T (n.540-62G>T)
 gnomAD v4
1g.6474649C>TCA2642979404PLEKHG5c.303-62G>A (n.303-62G>A)
c.477-62G>A (n.477-62G>A)
c.414-62G>A (n.414-62G>A)
n.717G>A
c.510-62G>A (n.510-62G>A)
c.600-62G>A (n.600-62G>A)
c.*515-62G>A (n.*515-62G>A)
c.*131-62G>A (n.*131-62G>A)
c.264+48G>A (n.264+48G>A)
c.534-62G>A (n.534-62G>A)
c.471-62G>A (n.471-62G>A)
c.540-62G>A (n.540-62G>A)
 gnomAD v4
1g.6474650C>TCA2574193684PLEKHG5c.303-63G>A (n.303-63G>A)
c.477-63G>A (n.477-63G>A)
c.414-63G>A (n.414-63G>A)
n.716G>A
c.510-63G>A (n.510-63G>A)
c.600-63G>A (n.600-63G>A)
c.*515-63G>A (n.*515-63G>A)
c.*131-63G>A (n.*131-63G>A)
c.264+47G>A (n.264+47G>A)
c.534-63G>A (n.534-63G>A)
c.471-63G>A (n.471-63G>A)
c.540-63G>A (n.540-63G>A)
 gnomAD v4
1g.6474651C>ACA2642979415PLEKHG5c.303-64G>T (n.303-64G>T)
c.477-64G>T (n.477-64G>T)
c.414-64G>T (n.414-64G>T)
n.715G>T
c.510-64G>T (n.510-64G>T)
c.600-64G>T (n.600-64G>T)
c.*515-64G>T (n.*515-64G>T)
c.*131-64G>T (n.*131-64G>T)
c.264+46G>T (n.264+46G>T)
c.534-64G>T (n.534-64G>T)
c.471-64G>T (n.471-64G>T)
c.540-64G>T (n.540-64G>T)
 gnomAD v4
1g.6474651C=CA1146625757PLEKHG5c.303-64G= (n.303-64G=)
c.477-64G= (n.477-64G=)
c.414-64G= (n.414-64G=)
n.715G=
c.510-64G= (n.510-64G=)
c.600-64G= (n.600-64G=)
c.*515-64G= (n.*515-64G=)
c.*131-64G= (n.*131-64G=)
c.264+46G= (n.264+46G=)
c.534-64G= (n.534-64G=)
c.471-64G= (n.471-64G=)
c.540-64G= (n.540-64G=)
1g.6474651C>TCA17243952PLEKHG5c.303-64G>A (n.303-64G>A)
c.477-64G>A (n.477-64G>A)
c.414-64G>A (n.414-64G>A)
n.715G>A
c.510-64G>A (n.510-64G>A)
c.600-64G>A (n.600-64G>A)
c.*515-64G>A (n.*515-64G>A)
c.*131-64G>A (n.*131-64G>A)
c.264+46G>A (n.264+46G>A)
c.534-64G>A (n.534-64G>A)
c.471-64G>A (n.471-64G>A)
c.540-64G>A (n.540-64G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCACCA2742323561PLEKHG5c.303-64_303-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-64_303-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-64_477-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-64_477-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-64_414-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-64_414-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.715_716insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-64_510-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-64_510-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-64_600-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-64_600-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-64_*515-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-64_*515-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-64_*131-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-64_*131-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+46_264+47insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+46_264+47insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-64_534-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-64_534-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-64_471-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-64_471-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-64_540-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-64_540-63insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
1g.6474651_6474652delinsCGCA1151507213PLEKHG5c.303-65_303-64delinsCG (n.303-65_303-64delinsCG)
c.477-65_477-64delinsCG (n.477-65_477-64delinsCG)
c.414-65_414-64delinsCG (n.414-65_414-64delinsCG)
n.714_715delinsCG
c.510-65_510-64delinsCG (n.510-65_510-64delinsCG)
c.600-65_600-64delinsCG (n.600-65_600-64delinsCG)
c.*515-65_*515-64delinsCG (n.*515-65_*515-64delinsCG)
c.*131-65_*131-64delinsCG (n.*131-65_*131-64delinsCG)
c.264+45_264+46delinsCG (n.264+45_264+46delinsCG)
c.534-65_534-64delinsCG (n.534-65_534-64delinsCG)
c.471-65_471-64delinsCG (n.471-65_471-64delinsCG)
c.540-65_540-64delinsCG (n.540-65_540-64delinsCG)
1g.6474651_6474652insCCCCCCCCCACA2642979439PLEKHG5c.303-65_303-64insTGGGGGGGGG (n.303-65_303-64insTGGGGGGGGG)
c.477-65_477-64insTGGGGGGGGG (n.477-65_477-64insTGGGGGGGGG)
c.414-65_414-64insTGGGGGGGGG (n.414-65_414-64insTGGGGGGGGG)
n.714_715insTGGGGGGGGG
c.510-65_510-64insTGGGGGGGGG (n.510-65_510-64insTGGGGGGGGG)
c.600-65_600-64insTGGGGGGGGG (n.600-65_600-64insTGGGGGGGGG)
c.*515-65_*515-64insTGGGGGGGGG (n.*515-65_*515-64insTGGGGGGGGG)
c.*131-65_*131-64insTGGGGGGGGG (n.*131-65_*131-64insTGGGGGGGGG)
c.264+45_264+46insTGGGGGGGGG (n.264+45_264+46insTGGGGGGGGG)
c.534-65_534-64insTGGGGGGGGG (n.534-65_534-64insTGGGGGGGGG)
c.471-65_471-64insTGGGGGGGGG (n.471-65_471-64insTGGGGGGGGG)
c.540-65_540-64insTGGGGGGGGG (n.540-65_540-64insTGGGGGGGGG)
 gnomAD v4
1g.6474651_6474652insCCCCCCCCCCACA2642979435PLEKHG5c.303-65_303-64insTGGGGGGGGGG (n.303-65_303-64insTGGGGGGGGGG)
c.477-65_477-64insTGGGGGGGGGG (n.477-65_477-64insTGGGGGGGGGG)
c.414-65_414-64insTGGGGGGGGGG (n.414-65_414-64insTGGGGGGGGGG)
n.714_715insTGGGGGGGGGG
c.510-65_510-64insTGGGGGGGGGG (n.510-65_510-64insTGGGGGGGGGG)
c.600-65_600-64insTGGGGGGGGGG (n.600-65_600-64insTGGGGGGGGGG)
c.*515-65_*515-64insTGGGGGGGGGG (n.*515-65_*515-64insTGGGGGGGGGG)
c.*131-65_*131-64insTGGGGGGGGGG (n.*131-65_*131-64insTGGGGGGGGGG)
c.264+45_264+46insTGGGGGGGGGG (n.264+45_264+46insTGGGGGGGGGG)
c.534-65_534-64insTGGGGGGGGGG (n.534-65_534-64insTGGGGGGGGGG)
c.471-65_471-64insTGGGGGGGGGG (n.471-65_471-64insTGGGGGGGGGG)
c.540-65_540-64insTGGGGGGGGGG (n.540-65_540-64insTGGGGGGGGGG)
 gnomAD v4
1g.6474652delCA520766031PLEKHG5c.303-65del (n.303-65del)
c.477-65del (n.477-65del)
c.414-65del (n.414-65del)
n.714del
c.510-65del (n.510-65del)
c.600-65del (n.600-65del)
c.*515-65del (n.*515-65del)
c.*131-65del (n.*131-65del)
c.264+45del (n.264+45del)
c.534-65del (n.534-65del)
c.471-65del (n.471-65del)
c.540-65del (n.540-65del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474652G>ACA520766029PLEKHG5c.303-65C>T (n.303-65C>T)
c.477-65C>T (n.477-65C>T)
c.414-65C>T (n.414-65C>T)
n.714C>T
c.510-65C>T (n.510-65C>T)
c.600-65C>T (n.600-65C>T)
c.*515-65C>T (n.*515-65C>T)
c.*131-65C>T (n.*131-65C>T)
c.264+45C>T (n.264+45C>T)
c.534-65C>T (n.534-65C>T)
c.471-65C>T (n.471-65C>T)
c.540-65C>T (n.540-65C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474652G>CCA17243959PLEKHG5c.303-65C>G (n.303-65C>G)
c.477-65C>G (n.477-65C>G)
c.414-65C>G (n.414-65C>G)
n.714C>G
c.510-65C>G (n.510-65C>G)
c.600-65C>G (n.600-65C>G)
c.*515-65C>G (n.*515-65C>G)
c.*131-65C>G (n.*131-65C>G)
c.264+45C>G (n.264+45C>G)
c.534-65C>G (n.534-65C>G)
c.471-65C>G (n.471-65C>G)
c.540-65C>G (n.540-65C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6474652G=CA1151507219PLEKHG5c.303-65C= (n.303-65C=)
c.477-65C= (n.477-65C=)
c.414-65C= (n.414-65C=)
n.714C=
c.510-65C= (n.510-65C=)
c.600-65C= (n.600-65C=)
c.*515-65C= (n.*515-65C=)
c.*131-65C= (n.*131-65C=)
c.264+45C= (n.264+45C=)
c.534-65C= (n.534-65C=)
c.471-65C= (n.471-65C=)
c.540-65C= (n.540-65C=)
1g.6474652G>TCA998179104PLEKHG5c.303-65C>A (n.303-65C>A)
c.477-65C>A (n.477-65C>A)
c.414-65C>A (n.414-65C>A)
n.714C>A
c.510-65C>A (n.510-65C>A)
c.600-65C>A (n.600-65C>A)
c.*515-65C>A (n.*515-65C>A)
c.*131-65C>A (n.*131-65C>A)
c.264+45C>A (n.264+45C>A)
c.534-65C>A (n.534-65C>A)
c.471-65C>A (n.471-65C>A)
c.540-65C>A (n.540-65C>A)
 gnomAD v3 gnomAD v4
1g.6474652_6474662delCA998179099PLEKHG5c.303-75_303-65del (n.303-75_303-65del)
c.477-75_477-65del (n.477-75_477-65del)
c.414-75_414-65del (n.414-75_414-65del)
n.704_714del
c.510-75_510-65del (n.510-75_510-65del)
c.600-75_600-65del (n.600-75_600-65del)
c.*515-75_*515-65del (n.*515-75_*515-65del)
c.*131-75_*131-65del (n.*131-75_*131-65del)
c.264+35_264+45del (n.264+35_264+45del)
c.534-75_534-65del (n.534-75_534-65del)
c.471-75_471-65del (n.471-75_471-65del)
c.540-75_540-65del (n.540-75_540-65del)
 dbSNP gnomAD v3 gnomAD v4
1g.6474660_6474696delCA2642979433PLEKHG5c.303-101_303-65del (n.303-101_303-65del)
c.477-101_477-65del (n.477-101_477-65del)
c.414-101_414-65del (n.414-101_414-65del)
n.678_714del
c.510-101_510-65del (n.510-101_510-65del)
c.600-101_600-65del (n.600-101_600-65del)
c.*515-101_*515-65del (n.*515-101_*515-65del)
c.*131-101_*131-65del (n.*131-101_*131-65del)
c.264+9_264+45del (n.264+9_264+45del)
c.534-101_534-65del (n.534-101_534-65del)
c.471-101_471-65del (n.471-101_471-65del)
c.540-101_540-65del (n.540-101_540-65del)
 gnomAD v4
1g.6474652_6474653insGCCCA2742323562PLEKHG5c.303-66_303-65insGGC (n.303-66_303-65insGGC)
c.477-66_477-65insGGC (n.477-66_477-65insGGC)
c.414-66_414-65insGGC (n.414-66_414-65insGGC)
n.713_714insGGC
c.510-66_510-65insGGC (n.510-66_510-65insGGC)
c.600-66_600-65insGGC (n.600-66_600-65insGGC)
c.*515-66_*515-65insGGC (n.*515-66_*515-65insGGC)
c.*131-66_*131-65insGGC (n.*131-66_*131-65insGGC)
c.264+44_264+45insGGC (n.264+44_264+45insGGC)
c.534-66_534-65insGGC (n.534-66_534-65insGGC)
c.471-66_471-65insGGC (n.471-66_471-65insGGC)
c.540-66_540-65insGGC (n.540-66_540-65insGGC)
1g.6474653C>TCA2642979485PLEKHG5c.303-66G>A (n.303-66G>A)
c.477-66G>A (n.477-66G>A)
c.414-66G>A (n.414-66G>A)
n.713G>A
c.510-66G>A (n.510-66G>A)
c.600-66G>A (n.600-66G>A)
c.*515-66G>A (n.*515-66G>A)
c.*131-66G>A (n.*131-66G>A)
c.264+44G>A (n.264+44G>A)
c.534-66G>A (n.534-66G>A)
c.471-66G>A (n.471-66G>A)
c.540-66G>A (n.540-66G>A)
 gnomAD v4
1g.6474657_6474658insCCCCCCCCCCCCCA2642979479PLEKHG5c.303-66_303-65insGGGGGGGGGGGG (n.303-66_303-65insGGGGGGGGGGGG)
c.477-66_477-65insGGGGGGGGGGGG (n.477-66_477-65insGGGGGGGGGGGG)
c.414-66_414-65insGGGGGGGGGGGG (n.414-66_414-65insGGGGGGGGGGGG)
n.713_714insGGGGGGGGGGGG
c.510-66_510-65insGGGGGGGGGGGG (n.510-66_510-65insGGGGGGGGGGGG)
c.600-66_600-65insGGGGGGGGGGGG (n.600-66_600-65insGGGGGGGGGGGG)
c.*515-66_*515-65insGGGGGGGGGGGG (n.*515-66_*515-65insGGGGGGGGGGGG)
c.*131-66_*131-65insGGGGGGGGGGGG (n.*131-66_*131-65insGGGGGGGGGGGG)
c.264+44_264+45insGGGGGGGGGGGG (n.264+44_264+45insGGGGGGGGGGGG)
c.534-66_534-65insGGGGGGGGGGGG (n.534-66_534-65insGGGGGGGGGGGG)
c.471-66_471-65insGGGGGGGGGGGG (n.471-66_471-65insGGGGGGGGGGGG)
c.540-66_540-65insGGGGGGGGGGGG (n.540-66_540-65insGGGGGGGGGGGG)
 gnomAD v4
1g.6474657dupCA998179128PLEKHG5c.303-66dup (n.303-66dup)
c.477-66dup (n.477-66dup)
c.414-66dup (n.414-66dup)
n.713dup
c.510-66dup (n.510-66dup)
c.600-66dup (n.600-66dup)
c.*515-66dup (n.*515-66dup)
c.*131-66dup (n.*131-66dup)
c.264+44dup (n.264+44dup)
c.534-66dup (n.534-66dup)
c.471-66dup (n.471-66dup)
c.540-66dup (n.540-66dup)
 gnomAD v3 gnomAD v4
1g.6474655_6474657dupCA2642979446PLEKHG5c.303-68_303-66dup (n.303-68_303-66dup)
c.477-68_477-66dup (n.477-68_477-66dup)
c.414-68_414-66dup (n.414-68_414-66dup)
n.711_713dup
c.510-68_510-66dup (n.510-68_510-66dup)
c.600-68_600-66dup (n.600-68_600-66dup)
c.*515-68_*515-66dup (n.*515-68_*515-66dup)
c.*131-68_*131-66dup (n.*131-68_*131-66dup)
c.264+42_264+44dup (n.264+42_264+44dup)
c.534-68_534-66dup (n.534-68_534-66dup)
c.471-68_471-66dup (n.471-68_471-66dup)
c.540-68_540-66dup (n.540-68_540-66dup)
 gnomAD v4
1g.6474654_6474657dupCA2642979452PLEKHG5c.303-69_303-66dup (n.303-69_303-66dup)
c.477-69_477-66dup (n.477-69_477-66dup)
c.414-69_414-66dup (n.414-69_414-66dup)
n.710_713dup
c.510-69_510-66dup (n.510-69_510-66dup)
c.600-69_600-66dup (n.600-69_600-66dup)
c.*515-69_*515-66dup (n.*515-69_*515-66dup)
c.*131-69_*131-66dup (n.*131-69_*131-66dup)
c.264+41_264+44dup (n.264+41_264+44dup)
c.534-69_534-66dup (n.534-69_534-66dup)
c.471-69_471-66dup (n.471-69_471-66dup)
c.540-69_540-66dup (n.540-69_540-66dup)
 gnomAD v4
1g.6474657delCA2642979480PLEKHG5c.303-66del (n.303-66del)
c.477-66del (n.477-66del)
c.414-66del (n.414-66del)
n.713del
c.510-66del (n.510-66del)
c.600-66del (n.600-66del)
c.*515-66del (n.*515-66del)
c.*131-66del (n.*131-66del)
c.264+44del (n.264+44del)
c.534-66del (n.534-66del)
c.471-66del (n.471-66del)
c.540-66del (n.540-66del)
 gnomAD v4
1g.6474659_6474660insCAGCCCCCCCCCCCCCCCCCACCCCCACCA2642979477PLEKHG5c.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
n.713_714insTGGGGGGGGGGGGGGGGGCTGGTGGGGG
c.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
c.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG)
 gnomAD v4
1g.6474657_6474658insCCCACCCCCCCCCCCCCCCCCCCCCACCCCCA2642979494PLEKHG5c.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
n.712_713insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG
c.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
c.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG)
 gnomAD v4
1g.6474657_6474658insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCCCCA2642979495PLEKHG5c.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
n.712_713insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
c.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
c.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
1g.6474655C>ACA2574193695PLEKHG5c.303-68G>T (n.303-68G>T)
c.477-68G>T (n.477-68G>T)
c.414-68G>T (n.414-68G>T)
n.711G>T
c.510-68G>T (n.510-68G>T)
c.600-68G>T (n.600-68G>T)
c.*515-68G>T (n.*515-68G>T)
c.*131-68G>T (n.*131-68G>T)
c.264+42G>T (n.264+42G>T)
c.534-68G>T (n.534-68G>T)
c.471-68G>T (n.471-68G>T)
c.540-68G>T (n.540-68G>T)
1g.6474655C>TCA2642979499PLEKHG5c.303-68G>A (n.303-68G>A)
c.477-68G>A (n.477-68G>A)
c.414-68G>A (n.414-68G>A)
n.711G>A
c.510-68G>A (n.510-68G>A)
c.600-68G>A (n.600-68G>A)
c.*515-68G>A (n.*515-68G>A)
c.*131-68G>A (n.*131-68G>A)
c.264+42G>A (n.264+42G>A)
c.534-68G>A (n.534-68G>A)
c.471-68G>A (n.471-68G>A)
c.540-68G>A (n.540-68G>A)
 gnomAD v4
1g.6474656C>ACA2559684544PLEKHG5c.303-69G>T (n.303-69G>T)
c.477-69G>T (n.477-69G>T)
c.414-69G>T (n.414-69G>T)
n.710G>T
c.510-69G>T (n.510-69G>T)
c.600-69G>T (n.600-69G>T)
c.*515-69G>T (n.*515-69G>T)
c.*131-69G>T (n.*131-69G>T)
c.264+41G>T (n.264+41G>T)
c.534-69G>T (n.534-69G>T)
c.471-69G>T (n.471-69G>T)
c.540-69G>T (n.540-69G>T)
1g.6474656C=CA1151507244PLEKHG5c.303-69G= (n.303-69G=)
c.477-69G= (n.477-69G=)
c.414-69G= (n.414-69G=)
n.710G=
c.510-69G= (n.510-69G=)
c.600-69G= (n.600-69G=)
c.*515-69G= (n.*515-69G=)
c.*131-69G= (n.*131-69G=)
c.264+41G= (n.264+41G=)
c.534-69G= (n.534-69G=)
c.471-69G= (n.471-69G=)
c.540-69G= (n.540-69G=)
1g.6474656C>GCA998179132PLEKHG5c.303-69G>C (n.303-69G>C)
c.477-69G>C (n.477-69G>C)
c.414-69G>C (n.414-69G>C)
n.710G>C
c.510-69G>C (n.510-69G>C)
c.600-69G>C (n.600-69G>C)
c.*515-69G>C (n.*515-69G>C)
c.*131-69G>C (n.*131-69G>C)
c.264+41G>C (n.264+41G>C)
c.534-69G>C (n.534-69G>C)
c.471-69G>C (n.471-69G>C)
c.540-69G>C (n.540-69G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.6474658_6474664delCA2642979504PLEKHG5c.303-75_303-69del (n.303-75_303-69del)
c.477-75_477-69del (n.477-75_477-69del)
c.414-75_414-69del (n.414-75_414-69del)
n.704_710del
c.510-75_510-69del (n.510-75_510-69del)
c.600-75_600-69del (n.600-75_600-69del)
c.*515-75_*515-69del (n.*515-75_*515-69del)
c.*131-75_*131-69del (n.*131-75_*131-69del)
c.264+35_264+41del (n.264+35_264+41del)
c.534-75_534-69del (n.534-75_534-69del)
c.471-75_471-69del (n.471-75_471-69del)
c.540-75_540-69del (n.540-75_540-69del)
 gnomAD v4
1g.6474657C>ACA2574193699PLEKHG5c.303-70G>T (n.303-70G>T)
c.477-70G>T (n.477-70G>T)
c.414-70G>T (n.414-70G>T)
n.709G>T
c.510-70G>T (n.510-70G>T)
c.600-70G>T (n.600-70G>T)
c.*515-70G>T (n.*515-70G>T)
c.*131-70G>T (n.*131-70G>T)
c.264+40G>T (n.264+40G>T)
c.534-70G>T (n.534-70G>T)
c.471-70G>T (n.471-70G>T)
c.540-70G>T (n.540-70G>T)
 gnomAD v4
1g.6474657C=CA1151507251PLEKHG5c.303-70G= (n.303-70G=)
c.477-70G= (n.477-70G=)
c.414-70G= (n.414-70G=)
n.709G=
c.510-70G= (n.510-70G=)
c.600-70G= (n.600-70G=)
c.*515-70G= (n.*515-70G=)
c.*131-70G= (n.*131-70G=)
c.264+40G= (n.264+40G=)
c.534-70G= (n.534-70G=)
c.471-70G= (n.471-70G=)
c.540-70G= (n.540-70G=)
1g.6474657C>GCA2642979513PLEKHG5c.303-70G>C (n.303-70G>C)
c.477-70G>C (n.477-70G>C)
c.414-70G>C (n.414-70G>C)
n.709G>C
c.510-70G>C (n.510-70G>C)
c.600-70G>C (n.600-70G>C)
c.*515-70G>C (n.*515-70G>C)
c.*131-70G>C (n.*131-70G>C)
c.264+40G>C (n.264+40G>C)
c.534-70G>C (n.534-70G>C)
c.471-70G>C (n.471-70G>C)
c.540-70G>C (n.540-70G>C)
 gnomAD v4
1g.6474657C>TCA1151507252PLEKHG5c.303-70G>A (n.303-70G>A)
c.477-70G>A (n.477-70G>A)
c.414-70G>A (n.414-70G>A)
n.709G>A
c.510-70G>A (n.510-70G>A)
c.600-70G>A (n.600-70G>A)
c.*515-70G>A (n.*515-70G>A)
c.*131-70G>A (n.*131-70G>A)
c.264+40G>A (n.264+40G>A)
c.534-70G>A (n.534-70G>A)
c.471-70G>A (n.471-70G>A)
c.540-70G>A (n.540-70G>A)
 dbSNP
1g.6474657_6474662delinsCACGAGCA1151507249PLEKHG5c.303-75_303-70delinsCTCGTG (n.303-75_303-70delinsCTCGTG)
c.477-75_477-70delinsCTCGTG (n.477-75_477-70delinsCTCGTG)
c.414-75_414-70delinsCTCGTG (n.414-75_414-70delinsCTCGTG)
n.704_709delinsCTCGTG
c.510-75_510-70delinsCTCGTG (n.510-75_510-70delinsCTCGTG)
c.600-75_600-70delinsCTCGTG (n.600-75_600-70delinsCTCGTG)
c.*515-75_*515-70delinsCTCGTG (n.*515-75_*515-70delinsCTCGTG)
c.*131-75_*131-70delinsCTCGTG (n.*131-75_*131-70delinsCTCGTG)
c.264+35_264+40delinsCTCGTG (n.264+35_264+40delinsCTCGTG)
c.534-75_534-70delinsCTCGTG (n.534-75_534-70delinsCTCGTG)
c.471-75_471-70delinsCTCGTG (n.471-75_471-70delinsCTCGTG)
c.540-75_540-70delinsCTCGTG (n.540-75_540-70delinsCTCGTG)
1g.6474658_6474663delCA998179146PLEKHG5c.303-75_303-70del (n.303-75_303-70del)
c.477-75_477-70del (n.477-75_477-70del)
c.414-75_414-70del (n.414-75_414-70del)
n.704_709del
c.510-75_510-70del (n.510-75_510-70del)
c.600-75_600-70del (n.600-75_600-70del)
c.*515-75_*515-70del (n.*515-75_*515-70del)
c.*131-75_*131-70del (n.*131-75_*131-70del)
c.264+35_264+40del (n.264+35_264+40del)
c.534-75_534-70del (n.534-75_534-70del)
c.471-75_471-70del (n.471-75_471-70del)
c.540-75_540-70del (n.540-75_540-70del)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched