Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38349465_38349475del | CA2695197208 | SPRED1 | c.626_636del (p.Met209ThrfsTer16) c.662_672del (p.Met221ThrfsTer16) c.404_414del (p.Met135ThrfsTer16) c.563_573del (p.Met188ThrfsTer16) | ClinVar |
15 | g.38349465T>A | CA391932864 | SPRED1 | c.626T>A (p.Met209Lys) c.662T>A (p.Met221Lys) c.404T>A (p.Met135Lys) c.563T>A (p.Met188Lys) | |
15 | g.38349465T>C | CA391932865 | SPRED1 | c.626T>C (p.Met209Thr) c.662T>C (p.Met221Thr) c.404T>C (p.Met135Thr) c.563T>C (p.Met188Thr) | |
15 | g.38349465T>G | CA391932863 | SPRED1 | c.626T>G (p.Met209Arg) c.662T>G (p.Met221Arg) c.404T>G (p.Met135Arg) c.563T>G (p.Met188Arg) | |
15 | g.38349466G>A | CA391932866 | SPRED1 | c.627G>A (p.Met209Ile) c.663G>A (p.Met221Ile) c.405G>A (p.Met135Ile) c.564G>A (p.Met188Ile) | |
15 | g.38349466G>C | CA391932867 | SPRED1 | c.627G>C (p.Met209Ile) c.663G>C (p.Met221Ile) c.405G>C (p.Met135Ile) c.564G>C (p.Met188Ile) | |
15 | g.38349466G>T | CA391932868 | SPRED1 | c.627G>T (p.Met209Ile) c.663G>T (p.Met221Ile) c.405G>T (p.Met135Ile) c.564G>T (p.Met188Ile) | |
15 | g.38349467G>A | CA391932869 | SPRED1 | c.628G>A (p.Glu210Lys) c.664G>A (p.Glu222Lys) c.406G>A (p.Glu136Lys) c.565G>A (p.Glu189Lys) | |
15 | g.38349467G>C | CA391932870 | SPRED1 | c.628G>C (p.Glu210Gln) c.664G>C (p.Glu222Gln) c.406G>C (p.Glu136Gln) c.565G>C (p.Glu189Gln) | |
15 | g.38349467G>T | CA391932871 | SPRED1 | c.628G>T (p.Glu210Ter) c.664G>T (p.Glu222Ter) c.406G>T (p.Glu136Ter) c.565G>T (p.Glu189Ter) | |
15 | g.38349468A>C | CA391932874 | SPRED1 | c.629A>C (p.Glu210Ala) c.665A>C (p.Glu222Ala) c.407A>C (p.Glu136Ala) c.566A>C (p.Glu189Ala) | |
15 | g.38349468A>G | CA391932872 | SPRED1 | c.629A>G (p.Glu210Gly) c.665A>G (p.Glu222Gly) c.407A>G (p.Glu136Gly) c.566A>G (p.Glu189Gly) | |
15 | g.38349468A>T | CA391932873 | SPRED1 | c.629A>T (p.Glu210Val) c.665A>T (p.Glu222Val) c.407A>T (p.Glu136Val) c.566A>T (p.Glu189Val) | |
15 | g.38349469A>C | CA391932875 | SPRED1 | c.630A>C (p.Glu210Asp) c.666A>C (p.Glu222Asp) c.408A>C (p.Glu136Asp) c.567A>C (p.Glu189Asp) | |
15 | g.38349469A>G | CA489922845 | SPRED1 | c.630A>G (p.Glu210=) c.666A>G (p.Glu222=) c.408A>G (p.Glu136=) c.567A>G (p.Glu189=) | gnomAD v4 |
15 | g.38349469A>T | CA391932876 | SPRED1 | c.630A>T (p.Glu210Asp) c.666A>T (p.Glu222Asp) c.408A>T (p.Glu136Asp) c.567A>T (p.Glu189Asp) | ClinVar dbSNP |
15 | g.38349470T>A | CA391932877 | SPRED1 | c.631T>A (p.Tyr211Asn) c.667T>A (p.Tyr223Asn) c.409T>A (p.Tyr137Asn) c.568T>A (p.Tyr190Asn) | dbSNP |
15 | g.38349470T>C | CA391932878 | SPRED1 | c.631T>C (p.Tyr211His) c.667T>C (p.Tyr223His) c.409T>C (p.Tyr137His) c.568T>C (p.Tyr190His) | ClinVar |
15 | g.38349470T>G | CA391932879 | SPRED1 | c.631T>G (p.Tyr211Asp) c.667T>G (p.Tyr223Asp) c.409T>G (p.Tyr137Asp) c.568T>G (p.Tyr190Asp) | |
15 | g.38349470T= | CA2170811828 | SPRED1 | c.631T= (p.Tyr211=) c.667T= (p.Tyr223=) c.409T= (p.Tyr137=) c.568T= (p.Tyr190=) | |
15 | g.38349471A>C | CA391932880 | SPRED1 | c.632A>C (p.Tyr211Ser) c.668A>C (p.Tyr223Ser) c.410A>C (p.Tyr137Ser) c.569A>C (p.Tyr190Ser) | |
15 | g.38349471A>G | CA391932882 | SPRED1 | c.632A>G (p.Tyr211Cys) c.668A>G (p.Tyr223Cys) c.410A>G (p.Tyr137Cys) c.569A>G (p.Tyr190Cys) | |
15 | g.38349471A>T | CA391932881 | SPRED1 | c.632A>T (p.Tyr211Phe) c.668A>T (p.Tyr223Phe) c.410A>T (p.Tyr137Phe) c.569A>T (p.Tyr190Phe) | |
15 | g.38349472C>A | CA391932883 | SPRED1 | c.633C>A (p.Tyr211Ter) c.669C>A (p.Tyr223Ter) c.411C>A (p.Tyr137Ter) c.570C>A (p.Tyr190Ter) | |
15 | g.38349472C= | CA2170811829 | SPRED1 | c.633C= (p.Tyr211=) c.669C= (p.Tyr223=) c.411C= (p.Tyr137=) c.570C= (p.Tyr190=) | |
15 | g.38349472C>G | CA391932884 | SPRED1 | c.633C>G (p.Tyr211Ter) c.669C>G (p.Tyr223Ter) c.411C>G (p.Tyr137Ter) c.570C>G (p.Tyr190Ter) | |
15 | g.38349472C>T | CA7470142 | SPRED1 | c.633C>T (p.Tyr211=) c.669C>T (p.Tyr223=) c.411C>T (p.Tyr137=) c.570C>T (p.Tyr190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38349473G>A | CA7470143 | SPRED1 | c.634G>A (p.Val212Ile) c.670G>A (p.Val224Ile) c.412G>A (p.Val138Ile) c.571G>A (p.Val191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38349473G>C | CA391932885 | SPRED1 | c.634G>C (p.Val212Leu) c.670G>C (p.Val224Leu) c.412G>C (p.Val138Leu) c.571G>C (p.Val191Leu) | |
15 | g.38349473G= | CA2170811830 | SPRED1 | c.634G= (p.Val212=) c.670G= (p.Val224=) c.412G= (p.Val138=) c.571G= (p.Val191=) | |
15 | g.38349473G>T | CA391932886 | SPRED1 | c.634G>T (p.Val212Leu) c.670G>T (p.Val224Leu) c.412G>T (p.Val138Leu) c.571G>T (p.Val191Leu) | |
15 | g.38349474T>A | CA391932887 | SPRED1 | c.635T>A (p.Val212Glu) c.671T>A (p.Val224Glu) c.413T>A (p.Val138Glu) c.572T>A (p.Val191Glu) | |
15 | g.38349474T>C | CA391932888 | SPRED1 | c.635T>C (p.Val212Ala) c.671T>C (p.Val224Ala) c.413T>C (p.Val138Ala) c.572T>C (p.Val191Ala) | |
15 | g.38349474T>G | CA391932889 | SPRED1 | c.635T>G (p.Val212Gly) c.671T>G (p.Val224Gly) c.413T>G (p.Val138Gly) c.572T>G (p.Val191Gly) | |
15 | g.38349475A= | CA2170811831 | SPRED1 | c.636A= (p.Val212=) c.672A= (p.Val224=) c.414A= (p.Val138=) c.573A= (p.Val191=) | |
15 | g.38349475A>C | CA16606923 | SPRED1 | c.636A>C (p.Val212=) c.672A>C (p.Val224=) c.414A>C (p.Val138=) c.573A>C (p.Val191=) | ClinVar dbSNP |
15 | g.38349475A>G | CA489922846 | SPRED1 | c.636A>G (p.Val212=) c.672A>G (p.Val224=) c.414A>G (p.Val138=) c.573A>G (p.Val191=) | |
15 | g.38349475A>T | CA489922847 | SPRED1 | c.636A>T (p.Val212=) c.672A>T (p.Val224=) c.414A>T (p.Val138=) c.573A>T (p.Val191=) | |
15 | g.38349476C>A | CA391932890 | SPRED1 | c.637C>A (p.Gln213Lys) c.673C>A (p.Gln225Lys) c.415C>A (p.Gln139Lys) c.574C>A (p.Gln192Lys) | |
15 | g.38349476C= | CA2170811832 | SPRED1 | c.637C= (p.Gln213=) c.673C= (p.Gln225=) c.415C= (p.Gln139=) c.574C= (p.Gln192=) | |
15 | g.38349476C>G | CA391932891 | SPRED1 | c.637C>G (p.Gln213Glu) c.673C>G (p.Gln225Glu) c.415C>G (p.Gln139Glu) c.574C>G (p.Gln192Glu) | |
15 | g.38349476C>T | CA251957 | SPRED1 | c.637C>T (p.Gln213Ter) c.673C>T (p.Gln225Ter) c.415C>T (p.Gln139Ter) c.574C>T (p.Gln192Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.38349477A>C | CA391932893 | SPRED1 | c.638A>C (p.Gln213Pro) c.674A>C (p.Gln225Pro) c.416A>C (p.Gln139Pro) c.575A>C (p.Gln192Pro) | gnomAD v4 |
15 | g.38349477A>G | CA391932894 | SPRED1 | c.638A>G (p.Gln213Arg) c.674A>G (p.Gln225Arg) c.416A>G (p.Gln139Arg) c.575A>G (p.Gln192Arg) | |
15 | g.38349477A>T | CA391932892 | SPRED1 | c.638A>T (p.Gln213Leu) c.674A>T (p.Gln225Leu) c.416A>T (p.Gln139Leu) c.575A>T (p.Gln192Leu) | |
15 | g.38349478G>A | CA489922848 | SPRED1 | c.639G>A (p.Gln213=) c.675G>A (p.Gln225=) c.417G>A (p.Gln139=) c.576G>A (p.Gln192=) | gnomAD v4 |
15 | g.38349478G>C | CA391932896 | SPRED1 | c.639G>C (p.Gln213His) c.675G>C (p.Gln225His) c.417G>C (p.Gln139His) c.576G>C (p.Gln192His) | |
15 | g.38349478G>T | CA391932895 | SPRED1 | c.639G>T (p.Gln213His) c.675G>T (p.Gln225His) c.417G>T (p.Gln139His) c.576G>T (p.Gln192His) | |
15 | g.38349479C>A | CA269293276 | SPRED1 | c.640C>A (p.Arg214=) c.676C>A (p.Arg226=) c.418C>A (p.Arg140=) c.577C>A (p.Arg193=) | dbSNP |
15 | g.38349479C= | CA2170811833 | SPRED1 | c.640C= (p.Arg214=) c.676C= (p.Arg226=) c.418C= (p.Arg140=) c.577C= (p.Arg193=) | |
15 | g.38349479C>G | CA391932897 | SPRED1 | c.640C>G (p.Arg214Gly) c.676C>G (p.Arg226Gly) c.418C>G (p.Arg140Gly) c.577C>G (p.Arg193Gly) | |
15 | g.38349479C>T | CA7470144 | SPRED1 | c.640C>T (p.Arg214Trp) c.676C>T (p.Arg226Trp) c.418C>T (p.Arg140Trp) c.577C>T (p.Arg193Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349480G>A | CA269293277 | SPRED1 | c.641G>A (p.Arg214Gln) c.677G>A (p.Arg226Gln) c.419G>A (p.Arg140Gln) c.578G>A (p.Arg193Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349480G>C | CA391932899 | SPRED1 | c.641G>C (p.Arg214Pro) c.677G>C (p.Arg226Pro) c.419G>C (p.Arg140Pro) c.578G>C (p.Arg193Pro) | |
15 | g.38349480G= | CA2170811834 | SPRED1 | c.641G= (p.Arg214=) c.677G= (p.Arg226=) c.419G= (p.Arg140=) c.578G= (p.Arg193=) | |
15 | g.38349480G>T | CA391932898 | SPRED1 | c.641G>T (p.Arg214Leu) c.677G>T (p.Arg226Leu) c.419G>T (p.Arg140Leu) c.578G>T (p.Arg193Leu) | |
15 | g.38349481G>A | CA489922850 | SPRED1 | c.642G>A (p.Arg214=) c.678G>A (p.Arg226=) c.420G>A (p.Arg140=) c.579G>A (p.Arg193=) | ClinVar dbSNP gnomAD v4 |
15 | g.38349481G>C | CA489922851 | SPRED1 | c.642G>C (p.Arg214=) c.678G>C (p.Arg226=) c.420G>C (p.Arg140=) c.579G>C (p.Arg193=) | |
15 | g.38349481G= | CA2170811835 | SPRED1 | c.642G= (p.Arg214=) c.678G= (p.Arg226=) c.420G= (p.Arg140=) c.579G= (p.Arg193=) | |
15 | g.38349481G>T | CA489922852 | SPRED1 | c.642G>T (p.Arg214=) c.678G>T (p.Arg226=) c.420G>T (p.Arg140=) c.579G>T (p.Arg193=) | |
15 | g.38349482C>A | CA391932900 | SPRED1 | c.643C>A (p.Gln215Lys) c.679C>A (p.Gln227Lys) c.421C>A (p.Gln141Lys) c.580C>A (p.Gln194Lys) | |
15 | g.38349482C= | CA2170811836 | SPRED1 | c.643C= (p.Gln215=) c.679C= (p.Gln227=) c.421C= (p.Gln141=) c.580C= (p.Gln194=) | |
15 | g.38349482C>G | CA7470145 | SPRED1 | c.643C>G (p.Gln215Glu) c.679C>G (p.Gln227Glu) c.421C>G (p.Gln141Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349482C>T | CA251953 | SPRED1 | c.643C>T (p.Gln215Ter) c.679C>T (p.Gln227Ter) c.421C>T (p.Gln141Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP |
15 | g.38349483A>C | CA391932901 | SPRED1 | c.644A>C (p.Gln215Pro) c.680A>C (p.Gln227Pro) c.422A>C (p.Gln141Pro) c.581A>C (p.Gln194Pro) | gnomAD v4 |
15 | g.38349483A>G | CA391932902 | SPRED1 | c.644A>G (p.Gln215Arg) c.680A>G (p.Gln227Arg) c.422A>G (p.Gln141Arg) c.581A>G (p.Gln194Arg) | |
15 | g.38349483A>T | CA391932903 | SPRED1 | c.644A>T (p.Gln215Leu) c.680A>T (p.Gln227Leu) c.422A>T (p.Gln141Leu) c.581A>T (p.Gln194Leu) | |
15 | g.38349484A= | CA2170811837 | SPRED1 | c.645A= (p.Gln215=) c.681A= (p.Gln227=) c.423A= (p.Gln141=) c.582A= (p.Gln194=) | |
15 | g.38349484A>C | CA269293278 | SPRED1 | c.645A>C (p.Gln215His) c.681A>C (p.Gln227His) c.423A>C (p.Gln141His) c.582A>C (p.Gln194His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349484A>G | CA489922853 | SPRED1 | c.645A>G (p.Gln215=) c.681A>G (p.Gln227=) c.423A>G (p.Gln141=) c.582A>G (p.Gln194=) | |
15 | g.38349484A>T | CA391932904 | SPRED1 | c.645A>T (p.Gln215His) c.681A>T (p.Gln227His) c.423A>T (p.Gln141His) c.582A>T (p.Gln194His) | |
15 | g.38349485A>C | CA391932905 | SPRED1 | c.646A>C (p.Ile216Leu) c.682A>C (p.Ile228Leu) c.424A>C (p.Ile142Leu) c.583A>C (p.Ile195Leu) | |
15 | g.38349485A>G | CA391932906 | SPRED1 | c.646A>G (p.Ile216Val) c.682A>G (p.Ile228Val) c.424A>G (p.Ile142Val) c.583A>G (p.Ile195Val) | |
15 | g.38349485A>T | CA391932907 | SPRED1 | c.646A>T (p.Ile216Leu) c.682A>T (p.Ile228Leu) c.424A>T (p.Ile142Leu) c.583A>T (p.Ile195Leu) | |
15 | g.38349486T>A | CA391932910 | SPRED1 | c.647T>A (p.Ile216Lys) c.683T>A (p.Ile228Lys) c.425T>A (p.Ile142Lys) c.584T>A (p.Ile195Lys) | |
15 | g.38349486T>C | CA391932908 | SPRED1 | c.647T>C (p.Ile216Thr) c.683T>C (p.Ile228Thr) c.425T>C (p.Ile142Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |
15 | g.38349486T>G | CA391932909 | SPRED1 | c.647T>G (p.Ile216Arg) c.683T>G (p.Ile228Arg) c.425T>G (p.Ile142Arg) c.584T>G (p.Ile195Arg) | |
15 | g.38349487A>C | CA489922855 | SPRED1 | c.648A>C (p.Ile216=) c.684A>C (p.Ile228=) c.426A>C (p.Ile142=) c.585A>C (p.Ile195=) | |
15 | g.38349487A>G | CA391932911 | SPRED1 | c.648A>G (p.Ile216Met) c.684A>G (p.Ile228Met) c.426A>G (p.Ile142Met) c.585A>G (p.Ile195Met) | |
15 | g.38349487A>T | CA489922854 | SPRED1 | c.648A>T (p.Ile216=) c.684A>T (p.Ile228=) c.426A>T (p.Ile142=) c.585A>T (p.Ile195=) | |
15 | g.38349488T>A | CA391932912 | SPRED1 | c.649T>A (p.Ser217Thr) c.685T>A (p.Ser229Thr) c.427T>A (p.Ser143Thr) c.586T>A (p.Ser196Thr) | |
15 | g.38349488T>C | CA391932913 | SPRED1 | c.649T>C (p.Ser217Pro) c.685T>C (p.Ser229Pro) c.427T>C (p.Ser143Pro) c.586T>C (p.Ser196Pro) | gnomAD v4 |
15 | g.38349488T>G | CA391932914 | SPRED1 | c.649T>G (p.Ser217Ala) c.685T>G (p.Ser229Ala) c.427T>G (p.Ser143Ala) c.586T>G (p.Ser196Ala) | ClinVar gnomAD v4 |
15 | g.38349489C>A | CA391932915 | SPRED1 | c.650C>A (p.Ser217Tyr) c.686C>A (p.Ser229Tyr) c.428C>A (p.Ser143Tyr) c.587C>A (p.Ser196Tyr) | |
15 | g.38349489C= | CA2170811838 | SPRED1 | c.650C= (p.Ser217=) c.686C= (p.Ser229=) c.428C= (p.Ser143=) c.587C= (p.Ser196=) | |
15 | g.38349489C>G | CA391932916 | SPRED1 | c.650C>G (p.Ser217Cys) c.686C>G (p.Ser229Cys) c.428C>G (p.Ser143Cys) c.587C>G (p.Ser196Cys) | |
15 | g.38349489C>T | CA391932917 | SPRED1 | c.650C>T (p.Ser217Phe) c.686C>T (p.Ser229Phe) c.428C>T (p.Ser143Phe) c.587C>T (p.Ser196Phe) | dbSNP |
15 | g.38349490C>A | CA489922856 | SPRED1 | c.651C>A (p.Ser217=) c.687C>A (p.Ser229=) c.429C>A (p.Ser143=) c.588C>A (p.Ser196=) | |
15 | g.38349490C>G | CA489922857 | SPRED1 | c.651C>G (p.Ser217=) c.687C>G (p.Ser229=) c.429C>G (p.Ser143=) c.588C>G (p.Ser196=) | |
15 | g.38349490C>T | CA489922858 | SPRED1 | c.651C>T (p.Ser217=) c.687C>T (p.Ser229=) c.429C>T (p.Ser143=) c.588C>T (p.Ser196=) | |
15 | g.38349491A= | CA2170811839 | SPRED1 | c.652A= (p.Lys218=) c.688A= (p.Lys230=) c.430A= (p.Lys144=) c.589A= (p.Lys197=) | |
15 | g.38349491A>C | CA391932918 | SPRED1 | c.652A>C (p.Lys218Gln) c.688A>C (p.Lys230Gln) c.430A>C (p.Lys144Gln) c.589A>C (p.Lys197Gln) | |
15 | g.38349491A>G | CA391932919 | SPRED1 | c.652A>G (p.Lys218Glu) c.688A>G (p.Lys230Glu) c.430A>G (p.Lys144Glu) c.589A>G (p.Lys197Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349491A>T | CA391932920 | SPRED1 | c.652A>T (p.Lys218Ter) c.688A>T (p.Lys230Ter) c.430A>T (p.Lys144Ter) c.589A>T (p.Lys197Ter) | |
15 | g.38349492A>C | CA391932922 | SPRED1 | c.653A>C (p.Lys218Thr) c.689A>C (p.Lys230Thr) c.431A>C (p.Lys144Thr) c.590A>C (p.Lys197Thr) | |
15 | g.38349492A>G | CA391932923 | SPRED1 | c.653A>G (p.Lys218Arg) c.689A>G (p.Lys230Arg) c.431A>G (p.Lys144Arg) c.590A>G (p.Lys197Arg) | |
15 | g.38349492A>T | CA391932921 | SPRED1 | c.653A>T (p.Lys218Met) c.689A>T (p.Lys230Met) c.431A>T (p.Lys144Met) c.590A>T (p.Lys197Met) | |
15 | g.38349493G>A | CA489922859 | SPRED1 | c.654G>A (p.Lys218=) c.690G>A (p.Lys230=) c.432G>A (p.Lys144=) c.591G>A (p.Lys197=) | |
15 | g.38349493G>C | CA391932924 | SPRED1 | c.654G>C (p.Lys218Asn) c.690G>C (p.Lys230Asn) c.432G>C (p.Lys144Asn) c.591G>C (p.Lys197Asn) | |
15 | g.38349493G>T | CA391932925 | SPRED1 | c.654G>T (p.Lys218Asn) c.690G>T (p.Lys230Asn) c.432G>T (p.Lys144Asn) c.591G>T (p.Lys197Asn) | gnomAD v4 |
15 | g.38349494G>A | CA391932926 | SPRED1 | c.655G>A (p.Glu219Lys) c.691G>A (p.Glu231Lys) c.433G>A (p.Glu145Lys) c.592G>A (p.Glu198Lys) | |
15 | g.38349494G>C | CA391932927 | SPRED1 | c.655G>C (p.Glu219Gln) c.691G>C (p.Glu231Gln) c.433G>C (p.Glu145Gln) c.592G>C (p.Glu198Gln) | |
15 | g.38349494G>T | CA391932928 | SPRED1 | c.655G>T (p.Glu219Ter) c.691G>T (p.Glu231Ter) c.433G>T (p.Glu145Ter) c.592G>T (p.Glu198Ter) | |
15 | g.38349495A>C | CA391932931 | SPRED1 | c.656A>C (p.Glu219Ala) c.692A>C (p.Glu231Ala) c.434A>C (p.Glu145Ala) c.593A>C (p.Glu198Ala) | |
15 | g.38349495A>G | CA391932929 | SPRED1 | c.656A>G (p.Glu219Gly) c.692A>G (p.Glu231Gly) c.434A>G (p.Glu145Gly) c.593A>G (p.Glu198Gly) | |
15 | g.38349495A>T | CA391932930 | SPRED1 | c.656A>T (p.Glu219Val) c.692A>T (p.Glu231Val) c.434A>T (p.Glu145Val) c.593A>T (p.Glu198Val) | |
15 | g.38349496A>C | CA391932932 | SPRED1 | c.657A>C (p.Glu219Asp) c.693A>C (p.Glu231Asp) c.435A>C (p.Glu145Asp) c.594A>C (p.Glu198Asp) | COSMIC |
15 | g.38349496A>G | CA489922861 | SPRED1 | c.657A>G (p.Glu219=) c.693A>G (p.Glu231=) c.435A>G (p.Glu145=) c.594A>G (p.Glu198=) | |
15 | g.38349496A>T | CA391932933 | SPRED1 | c.657A>T (p.Glu219Asp) c.693A>T (p.Glu231Asp) c.435A>T (p.Glu145Asp) c.594A>T (p.Glu198Asp) | |
15 | g.38349497T>A | CA391932934 | SPRED1 | c.658T>A (p.Cys220Ser) c.694T>A (p.Cys232Ser) c.436T>A (p.Cys146Ser) c.595T>A (p.Cys199Ser) | |
15 | g.38349497T>C | CA391932935 | SPRED1 | c.658T>C (p.Cys220Arg) c.694T>C (p.Cys232Arg) c.436T>C (p.Cys146Arg) c.595T>C (p.Cys199Arg) | |
15 | g.38349497T>G | CA391932936 | SPRED1 | c.658T>G (p.Cys220Gly) c.694T>G (p.Cys232Gly) c.436T>G (p.Cys146Gly) c.595T>G (p.Cys199Gly) | |
15 | g.38349498G>A | CA391932937 | SPRED1 | c.659G>A (p.Cys220Tyr) c.695G>A (p.Cys232Tyr) c.437G>A (p.Cys146Tyr) c.596G>A (p.Cys199Tyr) | ClinVar dbSNP gnomAD v4 |
15 | g.38349498G>C | CA391932939 | SPRED1 | c.659G>C (p.Cys220Ser) c.695G>C (p.Cys232Ser) c.437G>C (p.Cys146Ser) c.596G>C (p.Cys199Ser) | |
15 | g.38349498G= | CA2170811840 | SPRED1 | c.659G= (p.Cys220=) c.695G= (p.Cys232=) c.437G= (p.Cys146=) c.596G= (p.Cys199=) | |
15 | g.38349498G>T | CA391932938 | SPRED1 | c.659G>T (p.Cys220Phe) c.695G>T (p.Cys232Phe) c.437G>T (p.Cys146Phe) c.596G>T (p.Cys199Phe) | |
15 | g.38349499T>A | CA391932940 | SPRED1 | c.660T>A (p.Cys220Ter) c.696T>A (p.Cys232Ter) c.438T>A (p.Cys146Ter) c.597T>A (p.Cys199Ter) | |
15 | g.38349499T>C | CA489922862 | SPRED1 | c.660T>C (p.Cys220=) c.696T>C (p.Cys232=) c.438T>C (p.Cys146=) c.597T>C (p.Cys199=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349499T>G | CA391932941 | SPRED1 | c.660T>G (p.Cys220Trp) c.696T>G (p.Cys232Trp) c.438T>G (p.Cys146Trp) c.597T>G (p.Cys199Trp) | |
15 | g.38349499T= | CA2170811841 | SPRED1 | c.660T= (p.Cys220=) c.696T= (p.Cys232=) c.438T= (p.Cys146=) c.597T= (p.Cys199=) | |
15 | g.38349500G>A | CA391932942 | SPRED1 | c.661G>A (p.Gly221Arg) c.697G>A (p.Gly233Arg) c.439G>A (p.Gly147Arg) c.598G>A (p.Gly200Arg) | |
15 | g.38349500G>C | CA391932943 | SPRED1 | c.661G>C (p.Gly221Arg) c.697G>C (p.Gly233Arg) c.439G>C (p.Gly147Arg) c.598G>C (p.Gly200Arg) | |
15 | g.38349500G>T | CA391932944 | SPRED1 | c.661G>T (p.Gly221Ter) c.697G>T (p.Gly233Ter) c.439G>T (p.Gly147Ter) c.598G>T (p.Gly200Ter) | |
15 | g.38349501G>A | CA391932945 | SPRED1 | c.662G>A (p.Gly221Glu) c.698G>A (p.Gly233Glu) c.440G>A (p.Gly147Glu) c.599G>A (p.Gly200Glu) | |
15 | g.38349501G>C | CA391932946 | SPRED1 | c.662G>C (p.Gly221Ala) c.698G>C (p.Gly233Ala) c.440G>C (p.Gly147Ala) c.599G>C (p.Gly200Ala) | |
15 | g.38349501G>T | CA391932947 | SPRED1 | c.662G>T (p.Gly221Val) c.698G>T (p.Gly233Val) c.440G>T (p.Gly147Val) c.599G>T (p.Gly200Val) | |
15 | g.38349502A= | CA2170811842 | SPRED1 | c.663A= (p.Gly221=) c.699A= (p.Gly233=) c.441A= (p.Gly147=) c.600A= (p.Gly200=) | |
15 | g.38349502A>C | CA489922863 | SPRED1 | c.663A>C (p.Gly221=) c.699A>C (p.Gly233=) c.441A>C (p.Gly147=) c.600A>C (p.Gly200=) | |
15 | g.38349502A>G | CA7470146 | SPRED1 | c.663A>G (p.Gly221=) c.699A>G (p.Gly233=) c.441A>G (p.Gly147=) c.600A>G (p.Gly200=) | dbSNP ExAC gnomAD v2 |
15 | g.38349502A>T | CA489922864 | SPRED1 | c.663A>T (p.Gly221=) c.699A>T (p.Gly233=) c.441A>T (p.Gly147=) c.600A>T (p.Gly200=) | |
15 | g.38349503A>C | CA391932948 | SPRED1 | c.664A>C (p.Ser222Arg) c.700A>C (p.Ser234Arg) c.442A>C (p.Ser148Arg) c.601A>C (p.Ser201Arg) | |
15 | g.38349503A>G | CA391932949 | SPRED1 | c.664A>G (p.Ser222Gly) c.700A>G (p.Ser234Gly) c.442A>G (p.Ser148Gly) c.601A>G (p.Ser201Gly) | gnomAD v4 |
15 | g.38349503A>T | CA391932950 | SPRED1 | c.664A>T (p.Ser222Cys) c.700A>T (p.Ser234Cys) c.442A>T (p.Ser148Cys) c.601A>T (p.Ser201Cys) | gnomAD v4 |
15 | g.38349504G>A | CA391932952 | SPRED1 | c.665G>A (p.Ser222Asn) c.701G>A (p.Ser234Asn) c.443G>A (p.Ser148Asn) c.602G>A (p.Ser201Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349504G>C | CA391932953 | SPRED1 | c.665G>C (p.Ser222Thr) c.701G>C (p.Ser234Thr) c.443G>C (p.Ser148Thr) c.602G>C (p.Ser201Thr) | |
15 | g.38349504G= | CA2170811843 | SPRED1 | c.665G= (p.Ser222=) c.701G= (p.Ser234=) c.443G= (p.Ser148=) c.602G= (p.Ser201=) | |
15 | g.38349504G>T | CA391932951 | SPRED1 | c.665G>T (p.Ser222Ile) c.701G>T (p.Ser234Ile) c.443G>T (p.Ser148Ile) c.602G>T (p.Ser201Ile) | |
15 | g.38349505C>A | CA391932955 | SPRED1 | c.666C>A (p.Ser222Arg) c.702C>A (p.Ser234Arg) c.444C>A (p.Ser148Arg) c.603C>A (p.Ser201Arg) | ClinVar dbSNP gnomAD v4 |
15 | g.38349505C= | CA2170811844 | SPRED1 | c.666C= (p.Ser222=) c.702C= (p.Ser234=) c.444C= (p.Ser148=) c.603C= (p.Ser201=) | |
15 | g.38349505C>G | CA391932954 | SPRED1 | c.666C>G (p.Ser222Arg) c.702C>G (p.Ser234Arg) c.444C>G (p.Ser148Arg) c.603C>G (p.Ser201Arg) | |
15 | g.38349505C>T | CA489922865 | SPRED1 | c.666C>T (p.Ser222=) c.702C>T (p.Ser234=) c.444C>T (p.Ser148=) c.603C>T (p.Ser201=) | |
15 | g.38349506del | CA658761271 | SPRED1 | c.667del (p.Leu223Ter) c.703del (p.Leu235Ter) c.445del (p.Leu149Ter) c.604del (p.Leu202Ter) | |
15 | g.38349506C>A | CA391932956 | SPRED1 | c.667C>A (p.Leu223Ile) c.703C>A (p.Leu235Ile) c.445C>A (p.Leu149Ile) c.604C>A (p.Leu202Ile) | |
15 | g.38349506C>G | CA391932957 | SPRED1 | c.667C>G (p.Leu223Val) c.703C>G (p.Leu235Val) c.445C>G (p.Leu149Val) c.604C>G (p.Leu202Val) | |
15 | g.38349506C>T | CA489922866 | SPRED1 | c.667C>T (p.Leu223=) c.703C>T (p.Leu235=) c.445C>T (p.Leu149=) c.604C>T (p.Leu202=) | |
15 | g.38349507T>A | CA269293279 | SPRED1 | c.668T>A (p.Leu223Gln) c.704T>A (p.Leu235Gln) c.446T>A (p.Leu149Gln) c.605T>A (p.Leu202Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349507T>C | CA391932958 | SPRED1 | c.668T>C (p.Leu223Pro) c.704T>C (p.Leu235Pro) c.446T>C (p.Leu149Pro) c.605T>C (p.Leu202Pro) | gnomAD v4 |
15 | g.38349507T>G | CA391932959 | SPRED1 | c.668T>G (p.Leu223Arg) c.704T>G (p.Leu235Arg) c.446T>G (p.Leu149Arg) c.605T>G (p.Leu202Arg) | |
15 | g.38349507T= | CA2170811845 | SPRED1 | c.668T= (p.Leu223=) c.704T= (p.Leu235=) c.446T= (p.Leu149=) c.605T= (p.Leu202=) | |
15 | g.38349508A= | CA2170811846 | SPRED1 | c.669A= (p.Leu223=) c.705A= (p.Leu235=) c.447A= (p.Leu149=) c.606A= (p.Leu202=) | |
15 | g.38349508A>C | CA489922867 | SPRED1 | c.669A>C (p.Leu223=) c.705A>C (p.Leu235=) c.447A>C (p.Leu149=) c.606A>C (p.Leu202=) | gnomAD v4 |
15 | g.38349508A>G | CA7470147 | SPRED1 | c.669A>G (p.Leu223=) c.705A>G (p.Leu235=) c.447A>G (p.Leu149=) c.606A>G (p.Leu202=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.38349508A>T | CA489922868 | SPRED1 | c.669A>T (p.Leu223=) c.705A>T (p.Leu235=) c.447A>T (p.Leu149=) c.606A>T (p.Leu202=) | |
15 | g.38349509A>C | CA391932960 | SPRED1 | c.670A>C (p.Lys224Gln) c.706A>C (p.Lys236Gln) c.448A>C (p.Lys150Gln) c.607A>C (p.Lys203Gln) | |
15 | g.38349509A>G | CA391932961 | SPRED1 | c.670A>G (p.Lys224Glu) c.706A>G (p.Lys236Glu) c.448A>G (p.Lys150Glu) c.607A>G (p.Lys203Glu) | |
15 | g.38349509A>T | CA391932962 | SPRED1 | c.670A>T (p.Lys224Ter) c.706A>T (p.Lys236Ter) c.448A>T (p.Lys150Ter) c.607A>T (p.Lys203Ter) | |
15 | g.38349510A>C | CA391932963 | SPRED1 | c.671A>C (p.Lys224Thr) c.707A>C (p.Lys236Thr) c.449A>C (p.Lys150Thr) c.608A>C (p.Lys203Thr) | |
15 | g.38349510A>G | CA391932964 | SPRED1 | c.671A>G (p.Lys224Arg) c.707A>G (p.Lys236Arg) c.449A>G (p.Lys150Arg) c.608A>G (p.Lys203Arg) | |
15 | g.38349510A>T | CA391932965 | SPRED1 | c.671A>T (p.Lys224Met) c.707A>T (p.Lys236Met) c.449A>T (p.Lys150Met) c.608A>T (p.Lys203Met) | |
15 | g.38349511G>A | CA489922869 | SPRED1 | c.672G>A (p.Lys224=) c.708G>A (p.Lys236=) c.450G>A (p.Lys150=) c.609G>A (p.Lys203=) | |
15 | g.38349511G>C | CA391932967 | SPRED1 | c.672G>C (p.Lys224Asn) c.708G>C (p.Lys236Asn) c.450G>C (p.Lys150Asn) c.609G>C (p.Lys203Asn) | |
15 | g.38349511G>T | CA391932966 | SPRED1 | c.672G>T (p.Lys224Asn) c.708G>T (p.Lys236Asn) c.450G>T (p.Lys150Asn) c.609G>T (p.Lys203Asn) | |
15 | g.38349511_38349512del | CA2525070131 | SPRED1 | c.672_673del (p.Lys224AsnfsTer4) c.708_709del (p.Lys236AsnfsTer4) c.450_451del (p.Lys150AsnfsTer4) c.609_610del (p.Lys203AsnfsTer4) | |
15 | g.38349512del | CA658761272 | SPRED1 | c.673del (p.Ser225ProfsTer7) c.709del (p.Ser237ProfsTer7) c.451del (p.Ser151ProfsTer7) c.610del (p.Ser204ProfsTer7) | |
15 | g.38349512T>A | CA391932968 | SPRED1 | c.673T>A (p.Ser225Thr) c.709T>A (p.Ser237Thr) c.451T>A (p.Ser151Thr) c.610T>A (p.Ser204Thr) | |
15 | g.38349512T>C | CA391932969 | SPRED1 | c.673T>C (p.Ser225Pro) c.709T>C (p.Ser237Pro) c.451T>C (p.Ser151Pro) c.610T>C (p.Ser204Pro) | dbSNP gnomAD v4 |
15 | g.38349512T>G | CA391932970 | SPRED1 | c.673T>G (p.Ser225Ala) c.709T>G (p.Ser237Ala) c.451T>G (p.Ser151Ala) c.610T>G (p.Ser204Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349512T= | CA2170811847 | SPRED1 | c.673T= (p.Ser225=) c.709T= (p.Ser237=) c.451T= (p.Ser151=) c.610T= (p.Ser204=) | |
15 | g.38349513C>A | CA391932971 | SPRED1 | c.674C>A (p.Ser225Tyr) c.710C>A (p.Ser237Tyr) c.452C>A (p.Ser151Tyr) c.611C>A (p.Ser204Tyr) | |
15 | g.38349513C>G | CA391932972 | SPRED1 | c.674C>G (p.Ser225Cys) c.710C>G (p.Ser237Cys) c.452C>G (p.Ser151Cys) c.611C>G (p.Ser204Cys) | |
15 | g.38349513C>T | CA391932973 | SPRED1 | c.674C>T (p.Ser225Phe) c.710C>T (p.Ser237Phe) c.452C>T (p.Ser151Phe) c.611C>T (p.Ser204Phe) | |
15 | g.38349515del | CA2575673287 | SPRED1 | c.676del (p.Gln226LysfsTer6) c.712del (p.Gln238LysfsTer6) c.454del (p.Gln152LysfsTer6) c.613del (p.Gln205LysfsTer6) | |
15 | g.38349514C>A | CA489922870 | SPRED1 | c.675C>A (p.Ser225=) c.711C>A (p.Ser237=) c.453C>A (p.Ser151=) c.612C>A (p.Ser204=) | |
15 | g.38349514C= | CA2170811848 | SPRED1 | c.675C= (p.Ser225=) c.711C= (p.Ser237=) c.453C= (p.Ser151=) c.612C= (p.Ser204=) | |
15 | g.38349514C>G | CA7470148 | SPRED1 | c.675C>G (p.Ser225=) c.711C>G (p.Ser237=) c.453C>G (p.Ser151=) c.612C>G (p.Ser204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349514C>T | CA142281 | SPRED1 | c.675C>T (p.Ser225=) c.711C>T (p.Ser237=) c.453C>T (p.Ser151=) c.612C>T (p.Ser204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349515C>A | CA391932974 | SPRED1 | c.676C>A (p.Gln226Lys) c.712C>A (p.Gln238Lys) c.454C>A (p.Gln152Lys) c.613C>A (p.Gln205Lys) | |
15 | g.38349515C= | CA2170811849 | SPRED1 | c.676C= (p.Gln226=) c.712C= (p.Gln238=) c.454C= (p.Gln152=) c.613C= (p.Gln205=) | |
15 | g.38349515C>G | CA391932975 | SPRED1 | c.676C>G (p.Gln226Glu) c.712C>G (p.Gln238Glu) c.454C>G (p.Gln152Glu) c.613C>G (p.Gln205Glu) | |
15 | g.38349515C>T | CA391932976 | SPRED1 | c.676C>T (p.Gln226Ter) c.712C>T (p.Gln238Ter) c.454C>T (p.Gln152Ter) c.613C>T (p.Gln205Ter) | ClinVar dbSNP COSMIC |
15 | g.38349516A>C | CA391932977 | SPRED1 | c.677A>C (p.Gln226Pro) c.713A>C (p.Gln238Pro) c.455A>C (p.Gln152Pro) c.614A>C (p.Gln205Pro) | ClinVar |
15 | g.38349516A>G | CA391932978 | SPRED1 | c.677A>G (p.Gln226Arg) c.713A>G (p.Gln238Arg) c.455A>G (p.Gln152Arg) c.614A>G (p.Gln205Arg) | |
15 | g.38349516A>T | CA391932979 | SPRED1 | c.677A>T (p.Gln226Leu) c.713A>T (p.Gln238Leu) c.455A>T (p.Gln152Leu) c.614A>T (p.Gln205Leu) | |
15 | g.38349517A>C | CA391932980 | SPRED1 | c.678A>C (p.Gln226His) c.714A>C (p.Gln238His) c.456A>C (p.Gln152His) c.615A>C (p.Gln205His) | |
15 | g.38349517A>G | CA489922871 | SPRED1 | c.678A>G (p.Gln226=) c.714A>G (p.Gln238=) c.456A>G (p.Gln152=) c.615A>G (p.Gln205=) | |
15 | g.38349517A>T | CA391932981 | SPRED1 | c.678A>T (p.Gln226His) c.714A>T (p.Gln238His) c.456A>T (p.Gln152His) c.615A>T (p.Gln205His) | |
15 | g.38349518A>C | CA391932982 | SPRED1 | c.679A>C (p.Asn227His) c.715A>C (p.Asn239His) c.457A>C (p.Asn153His) c.616A>C (p.Asn206His) | |
15 | g.38349518A>G | CA391932983 | SPRED1 | c.679A>G (p.Asn227Asp) c.715A>G (p.Asn239Asp) c.457A>G (p.Asn153Asp) c.616A>G (p.Asn206Asp) | |
15 | g.38349518A>T | CA391932984 | SPRED1 | c.679A>T (p.Asn227Tyr) c.715A>T (p.Asn239Tyr) c.457A>T (p.Asn153Tyr) c.616A>T (p.Asn206Tyr) | |
15 | g.38349519A>C | CA391932985 | SPRED1 | c.680A>C (p.Asn227Thr) c.716A>C (p.Asn239Thr) c.458A>C (p.Asn153Thr) c.617A>C (p.Asn206Thr) | |
15 | g.38349519A>G | CA391932986 | SPRED1 | c.680A>G (p.Asn227Ser) c.716A>G (p.Asn239Ser) c.458A>G (p.Asn153Ser) c.617A>G (p.Asn206Ser) | |
15 | g.38349519A>T | CA391932987 | SPRED1 | c.680A>T (p.Asn227Ile) c.716A>T (p.Asn239Ile) c.458A>T (p.Asn153Ile) c.617A>T (p.Asn206Ile) | |
15 | g.38349520T>A | CA391932988 | SPRED1 | c.681T>A (p.Asn227Lys) c.717T>A (p.Asn239Lys) c.459T>A (p.Asn153Lys) c.618T>A (p.Asn206Lys) | |
15 | g.38349520T>C | CA489922872 | SPRED1 | c.681T>C (p.Asn227=) c.717T>C (p.Asn239=) c.459T>C (p.Asn153=) c.618T>C (p.Asn206=) | |
15 | g.38349520T>G | CA391932989 | SPRED1 | c.681T>G (p.Asn227Lys) c.717T>G (p.Asn239Lys) c.459T>G (p.Asn153Lys) c.618T>G (p.Asn206Lys) | |
15 | g.38349521A>C | CA489922873 | SPRED1 | c.682A>C (p.Arg228=) c.718A>C (p.Arg240=) c.460A>C (p.Arg154=) c.619A>C (p.Arg207=) | |
15 | g.38349521A>G | CA391932990 | SPRED1 | c.682A>G (p.Arg228Gly) c.718A>G (p.Arg240Gly) c.460A>G (p.Arg154Gly) c.619A>G (p.Arg207Gly) | |
15 | g.38349521A>T | CA391932991 | SPRED1 | c.682A>T (p.Arg228Trp) c.718A>T (p.Arg240Trp) c.460A>T (p.Arg154Trp) c.619A>T (p.Arg207Trp) | |
15 | g.38349522G>A | CA269293280 | SPRED1 | c.683G>A (p.Arg228Lys) c.719G>A (p.Arg240Lys) c.461G>A (p.Arg154Lys) c.620G>A (p.Arg207Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349522G>C | CA391932992 | SPRED1 | c.683G>C (p.Arg228Thr) c.719G>C (p.Arg240Thr) c.461G>C (p.Arg154Thr) c.620G>C (p.Arg207Thr) | |
15 | g.38349522G= | CA2170811850 | SPRED1 | c.683G= (p.Arg228=) c.719G= (p.Arg240=) c.461G= (p.Arg154=) c.620G= (p.Arg207=) | |
15 | g.38349522G>T | CA391932993 | SPRED1 | c.683G>T (p.Arg228Met) c.719G>T (p.Arg240Met) c.461G>T (p.Arg154Met) c.620G>T (p.Arg207Met) | |
15 | g.38349523G>A | CA489922874 | SPRED1 | c.684G>A (p.Arg228=) c.720G>A (p.Arg240=) c.462G>A (p.Arg154=) c.621G>A (p.Arg207=) | |
15 | g.38349523G>C | CA391932995 | SPRED1 | c.684G>C (p.Arg228Ser) c.720G>C (p.Arg240Ser) c.462G>C (p.Arg154Ser) c.621G>C (p.Arg207Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349523G= | CA2170811851 | SPRED1 | c.684G= (p.Arg228=) c.720G= (p.Arg240=) c.462G= (p.Arg154=) c.621G= (p.Arg207=) | |
15 | g.38349523G>T | CA391932994 | SPRED1 | c.684G>T (p.Arg228Ser) c.720G>T (p.Arg240Ser) c.462G>T (p.Arg154Ser) c.621G>T (p.Arg207Ser) | ClinVar |
15 | g.38349524G>A | CA7470149 | SPRED1 | c.684+1G>A (n.684+1G>A) c.720+1G>A (n.720+1G>A) c.462+1G>A (n.462+1G>A) c.621+1G>A (n.621+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349524G>C | CA391932996 | SPRED1 | c.684+1G>C (n.684+1G>C) c.720+1G>C (n.720+1G>C) c.462+1G>C (n.462+1G>C) c.621+1G>C (n.621+1G>C) | |
15 | g.38349524G= | CA2170811852 | SPRED1 | c.684+1G= (n.684+1G=) c.720+1G= (n.720+1G=) c.462+1G= (n.462+1G=) c.621+1G= (n.621+1G=) | |
15 | g.38349524G>T | CA391932997 | SPRED1 | c.684+1G>T (n.684+1G>T) c.720+1G>T (n.720+1G>T) c.462+1G>T (n.462+1G>T) c.621+1G>T (n.621+1G>T) | ClinVar |
15 | g.38349525T>A | CA391932998 | SPRED1 | c.684+2T>A (n.684+2T>A) c.720+2T>A (n.720+2T>A) c.462+2T>A (n.462+2T>A) c.621+2T>A (n.621+2T>A) | |
15 | g.38349525T>C | CA391932999 | SPRED1 | c.684+2T>C (n.684+2T>C) c.720+2T>C (n.720+2T>C) c.462+2T>C (n.462+2T>C) c.621+2T>C (n.621+2T>C) | |
15 | g.38349525T>G | CA391933000 | SPRED1 | c.684+2T>G (n.684+2T>G) c.720+2T>G (n.720+2T>G) c.462+2T>G (n.462+2T>G) c.621+2T>G (n.621+2T>G) | gnomAD v4 |
15 | g.38349526A>C | CA2803806045 | SPRED1 | c.684+3A>C (n.684+3A>C) c.720+3A>C (n.720+3A>C) c.462+3A>C (n.462+3A>C) c.621+3A>C (n.621+3A>C) | |
15 | g.38349526A>G | CA2627716027 | SPRED1 | c.684+3A>G (n.684+3A>G) c.720+3A>G (n.720+3A>G) c.462+3A>G (n.462+3A>G) c.621+3A>G (n.621+3A>G) | gnomAD v4 |
15 | g.38349526A>T | CA2627716026 | SPRED1 | c.684+3A>T (n.684+3A>T) c.720+3A>T (n.720+3A>T) c.462+3A>T (n.462+3A>T) c.621+3A>T (n.621+3A>T) | gnomAD v4 |
15 | g.38349527del | CA2627716028 | SPRED1 | c.684+4del (n.684+4del) c.720+4del (n.720+4del) c.462+4del (n.462+4del) c.621+4del (n.621+4del) | gnomAD v4 |
15 | g.38349528G>A | CA269293281 | SPRED1 | c.684+5G>A (n.684+5G>A) c.720+5G>A (n.720+5G>A) c.462+5G>A (n.462+5G>A) c.621+5G>A (n.621+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349528G= | CA2170811853 | SPRED1 | c.684+5G= (n.684+5G=) c.720+5G= (n.720+5G=) c.462+5G= (n.462+5G=) c.621+5G= (n.621+5G=) | |
15 | g.38349529T>C | CA968817146 | SPRED1 | c.684+6T>C (n.684+6T>C) c.720+6T>C (n.720+6T>C) c.462+6T>C (n.462+6T>C) c.621+6T>C (n.621+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349529T= | CA2170811854 | SPRED1 | c.684+6T= (n.684+6T=) c.720+6T= (n.720+6T=) c.462+6T= (n.462+6T=) c.621+6T= (n.621+6T=) | |
15 | g.38349530A>T | CA2627716029 | SPRED1 | c.684+7A>T (n.684+7A>T) c.720+7A>T (n.720+7A>T) c.462+7A>T (n.462+7A>T) c.621+7A>T (n.621+7A>T) | gnomAD v4 |
15 | g.38349531A= | CA2170811855 | SPRED1 | c.684+8A= (n.684+8A=) c.720+8A= (n.720+8A=) c.462+8A= (n.462+8A=) c.621+8A= (n.621+8A=) | |
15 | g.38349531A>G | CA2627716031 | SPRED1 | c.684+8A>G (n.684+8A>G) c.720+8A>G (n.720+8A>G) c.462+8A>G (n.462+8A>G) c.621+8A>G (n.621+8A>G) | gnomAD v4 |
15 | g.38349531A>T | CA617505702 | SPRED1 | c.684+8A>T (n.684+8A>T) c.720+8A>T (n.720+8A>T) c.462+8A>T (n.462+8A>T) c.621+8A>T (n.621+8A>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349531_38349533del | CA2627716030 | SPRED1 | c.684+8_684+10del (n.684+8_684+10del) c.720+8_720+10del (n.720+8_720+10del) c.462+8_462+10del (n.462+8_462+10del) c.621+8_621+10del (n.621+8_621+10del) | gnomAD v4 |
15 | g.38349532_38349536delinsTGTTA | CA2170811856 | SPRED1 | c.684+9_684+13delinsTGTTA (n.684+9_684+13delinsTGTTA) c.720+9_720+13delinsTGTTA (n.720+9_720+13delinsTGTTA) c.462+9_462+13delinsTGTTA (n.462+9_462+13delinsTGTTA) c.621+9_621+13delinsTGTTA (n.621+9_621+13delinsTGTTA) | |
15 | g.38349533G>A | CA658798299 | SPRED1 | c.684+10G>A (n.684+10G>A) c.720+10G>A (n.720+10G>A) c.462+10G>A (n.462+10G>A) c.621+10G>A (n.621+10G>A) | ClinVar dbSNP gnomAD v4 |
15 | g.38349533G= | CA2170811857 | SPRED1 | c.684+10G= (n.684+10G=) c.720+10G= (n.720+10G=) c.462+10G= (n.462+10G=) c.621+10G= (n.621+10G=) | |
15 | g.38349533G>T | CA2627716032 | SPRED1 | c.684+10G>T (n.684+10G>T) c.720+10G>T (n.720+10G>T) c.462+10G>T (n.462+10G>T) c.621+10G>T (n.621+10G>T) | gnomAD v4 |
15 | g.38349536_38349539del | CA919534781 | SPRED1 | c.684+13_684+16del (n.684+13_684+16del) c.720+13_720+16del (n.720+13_720+16del) c.462+13_462+16del (n.462+13_462+16del) c.621+13_621+16del (n.621+13_621+16del) | dbSNP |
15 | g.38349534T>G | CA2627716033 | SPRED1 | c.684+11T>G (n.684+11T>G) c.720+11T>G (n.720+11T>G) c.462+11T>G (n.462+11T>G) c.621+11T>G (n.621+11T>G) | gnomAD v4 |
15 | g.38349535T= | CA2170811858 | SPRED1 | c.684+12T= (n.684+12T=) c.720+12T= (n.720+12T=) c.462+12T= (n.462+12T=) c.621+12T= (n.621+12T=) | |
15 | g.38349536A= | CA2170811859 | SPRED1 | c.684+13A= (n.684+13A=) c.720+13A= (n.720+13A=) c.462+13A= (n.462+13A=) c.621+13A= (n.621+13A=) | |
15 | g.38349536A>G | CA712613920 | SPRED1 | c.684+13A>G (n.684+13A>G) c.720+13A>G (n.720+13A>G) c.462+13A>G (n.462+13A>G) c.621+13A>G (n.621+13A>G) | ClinVar dbSNP gnomAD v4 |
15 | g.38349536_38349537insTCTAAAATACAAACA | CA617505703 | SPRED1 | c.684+13_684+14insTCTAAAATACAAACA (n.684+13_684+14insTCTAAAATACAAACA) c.720+13_720+14insTCTAAAATACAAACA (n.720+13_720+14insTCTAAAATACAAACA) c.462+13_462+14insTCTAAAATACAAACA (n.462+13_462+14insTCTAAAATACAAACA) c.621+13_621+14insTCTAAAATACAAACA (n.621+13_621+14insTCTAAAATACAAACA) | dbSNP gnomAD v2 |
15 | g.38349537G>A | CA7470150 | SPRED1 | c.684+14G>A (n.684+14G>A) c.720+14G>A (n.720+14G>A) c.462+14G>A (n.462+14G>A) c.621+14G>A (n.621+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349537G= | CA2170811860 | SPRED1 | c.684+14G= (n.684+14G=) c.720+14G= (n.720+14G=) c.462+14G= (n.462+14G=) c.621+14G= (n.621+14G=) | |
15 | g.38349538T>C | CA2575673288 | SPRED1 | c.684+15T>C (n.684+15T>C) c.720+15T>C (n.720+15T>C) c.462+15T>C (n.462+15T>C) c.621+15T>C (n.621+15T>C) | gnomAD v4 |
15 | g.38349540del | CA2551683063 | SPRED1 | c.684+17del (n.684+17del) c.720+17del (n.720+17del) c.462+17del (n.462+17del) c.621+17del (n.621+17del) | gnomAD v4 |
15 | g.38349543C>A | CA2627716034 | SPRED1 | c.684+20C>A (n.684+20C>A) c.720+20C>A (n.720+20C>A) c.462+20C>A (n.462+20C>A) c.621+20C>A (n.621+20C>A) | gnomAD v4 |
15 | g.38349543C>G | CA2627716035 | SPRED1 | c.684+20C>G (n.684+20C>G) c.720+20C>G (n.720+20C>G) c.462+20C>G (n.462+20C>G) c.621+20C>G (n.621+20C>G) | gnomAD v4 |
15 | g.38349544T>C | CA2170811862 | SPRED1 | c.684+21T>C (n.684+21T>C) c.720+21T>C (n.720+21T>C) c.462+21T>C (n.462+21T>C) c.621+21T>C (n.621+21T>C) | dbSNP gnomAD v4 |
15 | g.38349544T= | CA2170811861 | SPRED1 | c.684+21T= (n.684+21T=) c.720+21T= (n.720+21T=) c.462+21T= (n.462+21T=) c.621+21T= (n.621+21T=) | |
15 | g.38349545T>A | CA2627716036 | SPRED1 | c.684+22T>A (n.684+22T>A) c.720+22T>A (n.720+22T>A) c.462+22T>A (n.462+22T>A) c.621+22T>A (n.621+22T>A) | gnomAD v4 |
15 | g.38349546G>A | CA2627716037 | SPRED1 | c.684+23G>A (n.684+23G>A) c.720+23G>A (n.720+23G>A) c.462+23G>A (n.462+23G>A) c.621+23G>A (n.621+23G>A) | gnomAD v4 |
15 | g.38349548G>A | CA2627716038 | SPRED1 | c.684+25G>A (n.684+25G>A) c.720+25G>A (n.720+25G>A) c.462+25G>A (n.462+25G>A) c.621+25G>A (n.621+25G>A) | gnomAD v4 |
15 | g.38349548G>T | CA2627716039 | SPRED1 | c.684+25G>T (n.684+25G>T) c.720+25G>T (n.720+25G>T) c.462+25G>T (n.462+25G>T) c.621+25G>T (n.621+25G>T) | gnomAD v4 |
15 | g.38349549A= | CA2170811863 | SPRED1 | c.684+26A= (n.684+26A=) c.720+26A= (n.720+26A=) c.462+26A= (n.462+26A=) c.621+26A= (n.621+26A=) | |
15 | g.38349549A>C | CA7470151 | SPRED1 | c.684+26A>C (n.684+26A>C) c.720+26A>C (n.720+26A>C) c.462+26A>C (n.462+26A>C) c.621+26A>C (n.621+26A>C) | dbSNP ExAC gnomAD v2 |
15 | g.38349549A>G | CA2627716040 | SPRED1 | c.684+26A>G (n.684+26A>G) c.720+26A>G (n.720+26A>G) c.462+26A>G (n.462+26A>G) c.621+26A>G (n.621+26A>G) | gnomAD v4 |
15 | g.38349550T>C | CA2627716041 | SPRED1 | c.684+27T>C (n.684+27T>C) c.720+27T>C (n.720+27T>C) c.462+27T>C (n.462+27T>C) c.621+27T>C (n.621+27T>C) | gnomAD v4 |
15 | g.38349551A= | CA2170811864 | SPRED1 | c.684+28A= (n.684+28A=) c.720+28A= (n.720+28A=) c.462+28A= (n.462+28A=) c.621+28A= (n.621+28A=) | |
15 | g.38349551A>G | CA2627716042 | SPRED1 | c.684+28A>G (n.684+28A>G) c.720+28A>G (n.720+28A>G) c.462+28A>G (n.462+28A>G) c.621+28A>G (n.621+28A>G) | gnomAD v4 |
15 | g.38349551A>T | CA7470152 | SPRED1 | c.684+28A>T (n.684+28A>T) c.720+28A>T (n.720+28A>T) c.462+28A>T (n.462+28A>T) c.621+28A>T (n.621+28A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349552T>C | CA7470153 | SPRED1 | c.684+29T>C (n.684+29T>C) c.720+29T>C (n.720+29T>C) c.462+29T>C (n.462+29T>C) c.621+29T>C (n.621+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349552T= | CA2170811865 | SPRED1 | c.684+29T= (n.684+29T=) c.720+29T= (n.720+29T=) c.462+29T= (n.462+29T=) c.621+29T= (n.621+29T=) | |
15 | g.38349553G>A | CA617505704 | SPRED1 | c.684+30G>A (n.684+30G>A) c.720+30G>A (n.720+30G>A) c.462+30G>A (n.462+30G>A) c.621+30G>A (n.621+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349553G= | CA2170811866 | SPRED1 | c.684+30G= (n.684+30G=) c.720+30G= (n.720+30G=) c.462+30G= (n.462+30G=) c.621+30G= (n.621+30G=) | |
15 | g.38349553G>T | CA2627716043 | SPRED1 | c.684+30G>T (n.684+30G>T) c.720+30G>T (n.720+30G>T) c.462+30G>T (n.462+30G>T) c.621+30G>T (n.621+30G>T) | gnomAD v4 |
15 | g.38349554G>A | CA617505705 | SPRED1 | c.684+31G>A (n.684+31G>A) c.720+31G>A (n.720+31G>A) c.462+31G>A (n.462+31G>A) c.621+31G>A (n.621+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349554G= | CA2170811867 | SPRED1 | c.684+31G= (n.684+31G=) c.720+31G= (n.720+31G=) c.462+31G= (n.462+31G=) c.621+31G= (n.621+31G=) | |
15 | g.38349555A= | CA2170811868 | SPRED1 | c.684+32A= (n.684+32A=) c.720+32A= (n.720+32A=) c.462+32A= (n.462+32A=) c.621+32A= (n.621+32A=) | |
15 | g.38349555A>T | CA269293282 | SPRED1 | c.684+32A>T (n.684+32A>T) c.720+32A>T (n.720+32A>T) c.462+32A>T (n.462+32A>T) c.621+32A>T (n.621+32A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349558T>A | CA2575673289 | SPRED1 | c.684+35T>A (n.684+35T>A) c.720+35T>A (n.720+35T>A) c.462+35T>A (n.462+35T>A) c.621+35T>A (n.621+35T>A) | |
15 | g.38349559T>A | CA2627716044 | SPRED1 | c.684+36T>A (n.684+36T>A) c.720+36T>A (n.720+36T>A) c.462+36T>A (n.462+36T>A) c.621+36T>A (n.621+36T>A) | gnomAD v4 |
15 | g.38349559T= | CA2170811869 | SPRED1 | c.684+36T= (n.684+36T=) c.720+36T= (n.720+36T=) c.462+36T= (n.462+36T=) c.621+36T= (n.621+36T=) | |
15 | g.38349559_38349560insG | CA7470154 | SPRED1 | c.684+36_684+37insG (n.684+36_684+37insG) c.720+36_720+37insG (n.720+36_720+37insG) c.462+36_462+37insG (n.462+36_462+37insG) c.621+36_621+37insG (n.621+36_621+37insG) | dbSNP ExAC |
15 | g.38349559_38349560insGATACTGCTGATGGCTGCACAATCTTGTG | CA617505707 | SPRED1 | c.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTG) c.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTG) c.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTG) c.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTG (n.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTG) | gnomAD v2 |
15 | g.38349559_38349560insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA | CA617505706 | SPRED1 | c.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.684+36_684+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA) c.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.720+36_720+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA) c.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.462+36_462+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA) c.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA (n.621+36_621+37insGATACTGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCAAATTACATACTTTTTTA) | gnomAD v2 gnomAD v4 |
15 | g.38349560A= | CA2170811870 | SPRED1 | c.684+37A= (n.684+37A=) c.720+37A= (n.720+37A=) c.462+37A= (n.462+37A=) c.621+37A= (n.621+37A=) | |
15 | g.38349560A>G | CA617505709 | SPRED1 | c.684+37A>G (n.684+37A>G) c.720+37A>G (n.720+37A>G) c.462+37A>G (n.462+37A>G) c.621+37A>G (n.621+37A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349560A>T | CA617505708 | SPRED1 | c.684+37A>T (n.684+37A>T) c.720+37A>T (n.720+37A>T) c.462+37A>T (n.462+37A>T) c.621+37A>T (n.621+37A>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349560_38349561insT | CA7470155 | SPRED1 | c.684+37_684+38insT (n.684+37_684+38insT) c.720+37_720+38insT (n.720+37_720+38insT) c.462+37_462+38insT (n.462+37_462+38insT) c.621+37_621+38insT (n.621+37_621+38insT) | dbSNP ExAC |
15 | g.38349561A>G | CA617505710 | SPRED1 | c.684+38A>G (n.684+38A>G) c.720+38A>G (n.720+38A>G) c.462+38A>G (n.462+38A>G) c.621+38A>G (n.621+38A>G) | gnomAD v2 gnomAD v4 |
15 | g.38349561_38349562insTACTGCTGATGG | CA617505711 | SPRED1 | c.684+38_684+39insTACTGCTGATGG (n.684+38_684+39insTACTGCTGATGG) c.720+38_720+39insTACTGCTGATGG (n.720+38_720+39insTACTGCTGATGG) c.462+38_462+39insTACTGCTGATGG (n.462+38_462+39insTACTGCTGATGG) c.621+38_621+39insTACTGCTGATGG (n.621+38_621+39insTACTGCTGATGG) | gnomAD v2 |
15 | g.38349562C>A | CA2575673290 | SPRED1 | c.684+39C>A (n.684+39C>A) c.720+39C>A (n.720+39C>A) c.462+39C>A (n.462+39C>A) c.621+39C>A (n.621+39C>A) | gnomAD v4 |
15 | g.38349562C= | CA2170811871 | SPRED1 | c.684+39C= (n.684+39C=) c.720+39C= (n.720+39C=) c.462+39C= (n.462+39C=) c.621+39C= (n.621+39C=) | |
15 | g.38349563T>A | CA617505712 | SPRED1 | c.684+40T>A (n.684+40T>A) c.720+40T>A (n.720+40T>A) c.462+40T>A (n.462+40T>A) c.621+40T>A (n.621+40T>A) | gnomAD v2 gnomAD v4 |
15 | g.38349563T>C | CA2627716046 | SPRED1 | c.684+40T>C (n.684+40T>C) c.720+40T>C (n.720+40T>C) c.462+40T>C (n.462+40T>C) c.621+40T>C (n.621+40T>C) | gnomAD v4 |
15 | g.38349563T= | CA2170811873 | SPRED1 | c.684+40T= (n.684+40T=) c.720+40T= (n.720+40T=) c.462+40T= (n.462+40T=) c.621+40T= (n.621+40T=) | |
15 | g.38349563_38349564insTTT | CA617505713 | SPRED1 | c.684+40_684+41insTTT (n.684+40_684+41insTTT) c.720+40_720+41insTTT (n.720+40_720+41insTTT) c.462+40_462+41insTTT (n.462+40_462+41insTTT) c.621+40_621+41insTTT (n.621+40_621+41insTTT) | dbSNP gnomAD v2 |
15 | g.38349563_38349564delinsTA | CA2170811872 | SPRED1 | c.684+40_684+41delinsTA (n.684+40_684+41delinsTA) c.720+40_720+41delinsTA (n.720+40_720+41delinsTA) c.462+40_462+41delinsTA (n.462+40_462+41delinsTA) c.621+40_621+41delinsTA (n.621+40_621+41delinsTA) | |
15 | g.38349564_38349565insTTA | CA2627716045 | SPRED1 | c.684+41_684+42insTTA (n.684+41_684+42insTTA) c.720+41_720+42insTTA (n.720+41_720+42insTTA) c.462+41_462+42insTTA (n.462+41_462+42insTTA) c.621+41_621+42insTTA (n.621+41_621+42insTTA) | gnomAD v4 |
15 | g.38349563_38349564insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA | CA7470156 | SPRED1 | c.684+40_684+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.684+40_684+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA) c.720+40_720+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.720+40_720+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA) c.462+40_462+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.462+40_462+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA) c.621+40_621+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA (n.621+40_621+41insGCTGATGGCTGCACAATCTTGTGAATATAATAAAAACCACCA) | dbSNP ExAC |
15 | g.38349564A= | CA2170811874 | SPRED1 | c.684+41A= (n.684+41A=) c.720+41A= (n.720+41A=) c.462+41A= (n.462+41A=) c.621+41A= (n.621+41A=) | |
15 | g.38349564A>T | CA617505715 | SPRED1 | c.684+41A>T (n.684+41A>T) c.720+41A>T (n.720+41A>T) c.462+41A>T (n.462+41A>T) c.621+41A>T (n.621+41A>T) | dbSNP gnomAD v2 |
15 | g.38349565del | CA617505714 | SPRED1 | c.684+42del (n.684+42del) c.720+42del (n.720+42del) c.462+42del (n.462+42del) c.621+42del (n.621+42del) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349565A= | CA2170811875 | SPRED1 | c.684+42A= (n.684+42A=) c.720+42A= (n.720+42A=) c.462+42A= (n.462+42A=) c.621+42A= (n.621+42A=) | |
15 | g.38349565A>C | CA2627716047 | SPRED1 | c.684+42A>C (n.684+42A>C) c.720+42A>C (n.720+42A>C) c.462+42A>C (n.462+42A>C) c.621+42A>C (n.621+42A>C) | gnomAD v4 |
15 | g.38349565A>G | CA2627716048 | SPRED1 | c.684+42A>G (n.684+42A>G) c.720+42A>G (n.720+42A>G) c.462+42A>G (n.462+42A>G) c.621+42A>G (n.621+42A>G) | gnomAD v4 |
15 | g.38349565A>T | CA617505716 | SPRED1 | c.684+42A>T (n.684+42A>T) c.720+42A>T (n.720+42A>T) c.462+42A>T (n.462+42A>T) c.621+42A>T (n.621+42A>T) | dbSNP gnomAD v2 gnomAD v4 |