Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.49991721G>A | CA500989323 | DLX3 | c.660C>T (p.Ser220=) c.300C>T (p.Ser100=) c.516+1679C>T (n.516+1679C>T) | gnomAD v4 |
17 | g.49991721G>C | CA500989326 | DLX3 | c.660C>G (p.Ser220=) c.300C>G (p.Ser100=) c.516+1679C>G (n.516+1679C>G) | |
17 | g.49991721G= | CA2263821958 | DLX3 | c.660C= (p.Ser220=) c.300C= (p.Ser100=) c.516+1679C= (n.516+1679C=) | |
17 | g.49991721G>T | CA500989324 | DLX3 | c.660C>A (p.Ser220=) c.300C>A (p.Ser100=) c.516+1679C>A (n.516+1679C>A) | dbSNP |
17 | g.49991722G>A | CA291506285 | DLX3 | c.659C>T (p.Ser220Phe) c.299C>T (p.Ser100Phe) c.516+1678C>T (n.516+1678C>T) | dbSNP gnomAD v4 |
17 | g.49991722G>C | CA400173926 | DLX3 | c.659C>G (p.Ser220Cys) c.299C>G (p.Ser100Cys) c.516+1678C>G (n.516+1678C>G) | |
17 | g.49991722G= | CA2263821959 | DLX3 | c.659C= (p.Ser220=) c.299C= (p.Ser100=) c.516+1678C= (n.516+1678C=) | |
17 | g.49991722G>T | CA400173930 | DLX3 | c.659C>A (p.Ser220Tyr) c.299C>A (p.Ser100Tyr) c.516+1678C>A (n.516+1678C>A) | |
17 | g.49991723A= | CA2263821960 | DLX3 | c.658T= (p.Ser220=) c.298T= (p.Ser100=) c.516+1677T= (n.516+1677T=) | |
17 | g.49991723A>C | CA400173932 | DLX3 | c.658T>G (p.Ser220Ala) c.298T>G (p.Ser100Ala) c.516+1677T>G (n.516+1677T>G) | |
17 | g.49991723A>G | CA291506303 | DLX3 | c.658T>C (p.Ser220Pro) c.298T>C (p.Ser100Pro) c.516+1677T>C (n.516+1677T>C) | dbSNP gnomAD v2 |
17 | g.49991723A>T | CA400173936 | DLX3 | c.658T>A (p.Ser220Thr) c.298T>A (p.Ser100Thr) c.516+1677T>A (n.516+1677T>A) | |
17 | g.49991724A>C | CA500989330 | DLX3 | c.657T>G (p.Ser219=) c.297T>G (p.Ser99=) c.516+1676T>G (n.516+1676T>G) | |
17 | g.49991724A>G | CA500989331 | DLX3 | c.657T>C (p.Ser219=) c.297T>C (p.Ser99=) c.516+1676T>C (n.516+1676T>C) | |
17 | g.49991724A>T | CA500989332 | DLX3 | c.657T>A (p.Ser219=) c.297T>A (p.Ser99=) c.516+1676T>A (n.516+1676T>A) | |
17 | g.49991725G>A | CA400173941 | DLX3 | c.656C>T (p.Ser219Phe) c.296C>T (p.Ser99Phe) c.516+1675C>T (n.516+1675C>T) | |
17 | g.49991725G>C | CA400173946 | DLX3 | c.656C>G (p.Ser219Cys) c.296C>G (p.Ser99Cys) c.516+1675C>G (n.516+1675C>G) | |
17 | g.49991725G>T | CA400173944 | DLX3 | c.656C>A (p.Ser219Tyr) c.296C>A (p.Ser99Tyr) c.516+1675C>A (n.516+1675C>A) | |
17 | g.49991726A>C | CA400173950 | DLX3 | c.655T>G (p.Ser219Ala) c.295T>G (p.Ser99Ala) c.516+1674T>G (n.516+1674T>G) | |
17 | g.49991726A>G | CA400173953 | DLX3 | c.655T>C (p.Ser219Pro) c.295T>C (p.Ser99Pro) c.516+1674T>C (n.516+1674T>C) | |
17 | g.49991726A>T | CA400173955 | DLX3 | c.655T>A (p.Ser219Thr) c.295T>A (p.Ser99Thr) c.516+1674T>A (n.516+1674T>A) | |
17 | g.49991727G>A | CA8640974 | DLX3 | c.654C>T (p.Thr218=) c.294C>T (p.Thr98=) c.516+1673C>T (n.516+1673C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.49991727G>C | CA500989334 | DLX3 | c.654C>G (p.Thr218=) c.294C>G (p.Thr98=) c.516+1673C>G (n.516+1673C>G) | |
17 | g.49991727G= | CA2263821961 | DLX3 | c.654C= (p.Thr218=) c.294C= (p.Thr98=) c.516+1673C= (n.516+1673C=) | |
17 | g.49991727G>T | CA500989335 | DLX3 | c.654C>A (p.Thr218=) c.294C>A (p.Thr98=) c.516+1673C>A (n.516+1673C>A) | |
17 | g.49991728G>A | CA400173962 | DLX3 | c.653C>T (p.Thr218Ile) c.293C>T (p.Thr98Ile) c.516+1672C>T (n.516+1672C>T) | |
17 | g.49991728G>C | CA400173965 | DLX3 | c.653C>G (p.Thr218Ser) c.293C>G (p.Thr98Ser) c.516+1672C>G (n.516+1672C>G) | |
17 | g.49991728G>T | CA400173968 | DLX3 | c.653C>A (p.Thr218Asn) c.293C>A (p.Thr98Asn) c.516+1672C>A (n.516+1672C>A) | |
17 | g.49991729T>A | CA400173972 | DLX3 | c.652A>T (p.Thr218Ser) c.292A>T (p.Thr98Ser) c.516+1671A>T (n.516+1671A>T) | |
17 | g.49991729T>C | CA400173975 | DLX3 | c.652A>G (p.Thr218Ala) c.292A>G (p.Thr98Ala) c.516+1671A>G (n.516+1671A>G) | gnomAD v4 |
17 | g.49991729T>G | CA400173978 | DLX3 | c.652A>C (p.Thr218Pro) c.292A>C (p.Thr98Pro) c.516+1671A>C (n.516+1671A>C) | dbSNP gnomAD v2 |
17 | g.49991729T= | CA2263821962 | DLX3 | c.652A= (p.Thr218=) c.292A= (p.Thr98=) c.516+1671A= (n.516+1671A=) | |
17 | g.49991730G>A | CA500989337 | DLX3 | c.651C>T (p.Asp217=) c.291C>T (p.Asp97=) c.516+1670C>T (n.516+1670C>T) | gnomAD v4 |
17 | g.49991730G>C | CA400173985 | DLX3 | c.651C>G (p.Asp217Glu) c.291C>G (p.Asp97Glu) c.516+1670C>G (n.516+1670C>G) | |
17 | g.49991730G>T | CA400173981 | DLX3 | c.651C>A (p.Asp217Glu) c.291C>A (p.Asp97Glu) c.516+1670C>A (n.516+1670C>A) | |
17 | g.49991731T>A | CA400173989 | DLX3 | c.650A>T (p.Asp217Val) c.290A>T (p.Asp97Val) c.516+1669A>T (n.516+1669A>T) | |
17 | g.49991731T>C | CA400173990 | DLX3 | c.650A>G (p.Asp217Gly) c.290A>G (p.Asp97Gly) c.516+1669A>G (n.516+1669A>G) | |
17 | g.49991731T>G | CA400173993 | DLX3 | c.650A>C (p.Asp217Ala) c.290A>C (p.Asp97Ala) c.516+1669A>C (n.516+1669A>C) | |
17 | g.49991732C>A | CA400173995 | DLX3 | c.649G>T (p.Asp217Tyr) c.289G>T (p.Asp97Tyr) c.516+1668G>T (n.516+1668G>T) | |
17 | g.49991732C>G | CA400173997 | DLX3 | c.649G>C (p.Asp217His) c.289G>C (p.Asp97His) c.516+1668G>C (n.516+1668G>C) | |
17 | g.49991732C>T | CA400174000 | DLX3 | c.649G>A (p.Asp217Asn) c.289G>A (p.Asp97Asn) c.516+1668G>A (n.516+1668G>A) | |
17 | g.49991733C>A | CA8640975 | DLX3 | c.648G>T (p.Trp216Cys) c.288G>T (p.Trp96Cys) c.516+1667G>T (n.516+1667G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.49991733C= | CA2263821963 | DLX3 | c.648G= (p.Trp216=) c.288G= (p.Trp96=) c.516+1667G= (n.516+1667G=) | |
17 | g.49991733C>G | CA400174006 | DLX3 | c.648G>C (p.Trp216Cys) c.288G>C (p.Trp96Cys) c.516+1667G>C (n.516+1667G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.49991733C>T | CA400174008 | DLX3 | c.648G>A (p.Trp216Ter) c.288G>A (p.Trp96Ter) c.516+1667G>A (n.516+1667G>A) | |
17 | g.49991734C>A | CA400174012 | DLX3 | c.647G>T (p.Trp216Leu) c.287G>T (p.Trp96Leu) c.516+1666G>T (n.516+1666G>T) | |
17 | g.49991734C>G | CA400174015 | DLX3 | c.647G>C (p.Trp216Ser) c.287G>C (p.Trp96Ser) c.516+1666G>C (n.516+1666G>C) | |
17 | g.49991734C>T | CA400174018 | DLX3 | c.647G>A (p.Trp216Ter) c.287G>A (p.Trp96Ter) c.516+1666G>A (n.516+1666G>A) | |
17 | g.49991735A>C | CA400174054 | DLX3 | c.646T>G (p.Trp216Gly) c.286T>G (p.Trp96Gly) c.516+1665T>G (n.516+1665T>G) | |
17 | g.49991735A>G | CA400174059 | DLX3 | c.646T>C (p.Trp216Arg) c.286T>C (p.Trp96Arg) c.516+1665T>C (n.516+1665T>C) |