Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12663781G>A | CA350933 | MAN2B1 | c.685C>T (p.Arg229Trp) n.667C>T c.388C>T (p.Arg130Trp) c.-334C>T (n.-334C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663781G>C | CA404252900 | MAN2B1 | c.685C>G (p.Arg229Gly) n.667C>G c.388C>G (p.Arg130Gly) c.-334C>G (n.-334C>G) | |
19 | g.12663781G= | CA2323506904 | MAN2B1 | c.685C= (p.Arg229=) n.667C= c.388C= (p.Arg130=) c.-334C= (n.-334C=) | |
19 | g.12663781G>T | CA505625722 | MAN2B1 | c.685C>A (p.Arg229=) n.667C>A c.388C>A (p.Arg130=) c.-334C>A (n.-334C>A) | |
19 | g.12663782T>A | CA505625723 | MAN2B1 | c.684A>T (p.Val228=) n.666A>T c.387A>T (p.Val129=) c.-335A>T (n.-335A>T) | |
19 | g.12663782T>C | CA505625724 | MAN2B1 | c.684A>G (p.Val228=) n.666A>G c.387A>G (p.Val129=) c.-335A>G (n.-335A>G) | |
19 | g.12663782T>G | CA505625725 | MAN2B1 | c.684A>C (p.Val228=) n.666A>C c.387A>C (p.Val129=) c.-335A>C (n.-335A>C) | |
19 | g.12663783A>C | CA404252902 | MAN2B1 | c.683T>G (p.Val228Gly) n.665T>G c.386T>G (p.Val129Gly) c.-336T>G (n.-336T>G) | |
19 | g.12663783A>G | CA404252904 | MAN2B1 | c.683T>C (p.Val228Ala) n.665T>C c.386T>C (p.Val129Ala) c.-336T>C (n.-336T>C) | |
19 | g.12663783A>T | CA404252906 | MAN2B1 | c.683T>A (p.Val228Glu) n.665T>A c.386T>A (p.Val129Glu) c.-336T>A (n.-336T>A) | gnomAD v4 |
19 | g.12663784C>A | CA404252908 | MAN2B1 | c.682G>T (p.Val228Leu) n.664G>T c.385G>T (p.Val129Leu) c.-337G>T (n.-337G>T) | |
19 | g.12663784C>G | CA404252910 | MAN2B1 | c.682G>C (p.Val228Leu) n.664G>C c.385G>C (p.Val129Leu) c.-337G>C (n.-337G>C) | |
19 | g.12663784C>T | CA404252911 | MAN2B1 | c.682G>A (p.Val228Ile) n.664G>A c.385G>A (p.Val129Ile) c.-337G>A (n.-337G>A) | |
19 | g.12663785C>A | CA404252914 | MAN2B1 | c.681G>T (p.Trp227Cys) n.663G>T c.384G>T (p.Trp128Cys) c.-338G>T (n.-338G>T) | |
19 | g.12663785C>G | CA404252916 | MAN2B1 | c.681G>C (p.Trp227Cys) n.663G>C c.384G>C (p.Trp128Cys) c.-338G>C (n.-338G>C) | gnomAD v4 |
19 | g.12663785C>T | CA404252917 | MAN2B1 | c.681G>A (p.Trp227Ter) n.663G>A c.384G>A (p.Trp128Ter) c.-338G>A (n.-338G>A) | gnomAD v3 gnomAD v4 |
19 | g.12663786C>A | CA404252919 | MAN2B1 | c.680G>T (p.Trp227Leu) n.662G>T c.383G>T (p.Trp128Leu) c.-339G>T (n.-339G>T) | |
19 | g.12663786C= | CA2323506905 | MAN2B1 | c.680G= (p.Trp227=) n.662G= c.383G= (p.Trp128=) c.-339G= (n.-339G=) | |
19 | g.12663786C>G | CA404252922 | MAN2B1 | c.680G>C (p.Trp227Ser) n.662G>C c.383G>C (p.Trp128Ser) c.-339G>C (n.-339G>C) | |
19 | g.12663786C>T | CA9226734 | MAN2B1 | c.680G>A (p.Trp227Ter) n.662G>A c.383G>A (p.Trp128Ter) c.-339G>A (n.-339G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12663787A>C | CA404252923 | MAN2B1 | c.679T>G (p.Trp227Gly) n.661T>G c.382T>G (p.Trp128Gly) c.-340T>G (n.-340T>G) | |
19 | g.12663787A>G | CA404252925 | MAN2B1 | c.679T>C (p.Trp227Arg) n.661T>C c.382T>C (p.Trp128Arg) c.-340T>C (n.-340T>C) | |
19 | g.12663787A>T | CA404252927 | MAN2B1 | c.679T>A (p.Trp227Arg) n.661T>A c.382T>A (p.Trp128Arg) c.-340T>A (n.-340T>A) | |
19 | g.12663788C>A | CA404252929 | MAN2B1 | c.678G>T (p.Lys226Asn) n.660G>T c.381G>T (p.Lys127Asn) c.-341G>T (n.-341G>T) | |
19 | g.12663788C= | CA2323506906 | MAN2B1 | c.678G= (p.Lys226=) n.660G= c.381G= (p.Lys127=) c.-341G= (n.-341G=) | |
19 | g.12663788C>G | CA404252931 | MAN2B1 | c.678G>C (p.Lys226Asn) n.660G>C c.381G>C (p.Lys127Asn) c.-341G>C (n.-341G>C) | |
19 | g.12663788C>T | CA305477987 | MAN2B1 | c.678G>A (p.Lys226=) n.660G>A c.381G>A (p.Lys127=) c.-341G>A (n.-341G>A) | dbSNP gnomAD v4 |
19 | g.12663789T>A | CA404252932 | MAN2B1 | c.677A>T (p.Lys226Met) n.659A>T c.380A>T (p.Lys127Met) c.-342A>T (n.-342A>T) | |
19 | g.12663789T>C | CA404252933 | MAN2B1 | c.677A>G (p.Lys226Arg) n.659A>G c.380A>G (p.Lys127Arg) c.-342A>G (n.-342A>G) | |
19 | g.12663789T>G | CA404252936 | MAN2B1 | c.677A>C (p.Lys226Thr) n.659A>C c.380A>C (p.Lys127Thr) c.-342A>C (n.-342A>C) | |
19 | g.12663790T>A | CA404252939 | MAN2B1 | c.676A>T (p.Lys226Ter) n.658A>T c.379A>T (p.Lys127Ter) c.-343A>T (n.-343A>T) | |
19 | g.12663790T>C | CA404252940 | MAN2B1 | c.676A>G (p.Lys226Glu) n.658A>G c.379A>G (p.Lys127Glu) c.-343A>G (n.-343A>G) | |
19 | g.12663790T>G | CA404252938 | MAN2B1 | c.676A>C (p.Lys226Gln) n.658A>C c.379A>C (p.Lys127Gln) c.-343A>C (n.-343A>C) | |
19 | g.12663791A>C | CA404252941 | MAN2B1 | c.675T>G (p.Asp225Glu) n.657T>G c.378T>G (p.Asp126Glu) c.-344T>G (n.-344T>G) | |
19 | g.12663791A>G | CA505625726 | MAN2B1 | c.675T>C (p.Asp225=) n.657T>C c.378T>C (p.Asp126=) c.-344T>C (n.-344T>C) | |
19 | g.12663791A>T | CA404252942 | MAN2B1 | c.675T>A (p.Asp225Glu) n.657T>A c.378T>A (p.Asp126Glu) c.-344T>A (n.-344T>A) | |
19 | g.12663792T>A | CA404252943 | MAN2B1 | c.674A>T (p.Asp225Val) n.656A>T c.377A>T (p.Asp126Val) c.-345A>T (n.-345A>T) | |
19 | g.12663792T>C | CA404252944 | MAN2B1 | c.674A>G (p.Asp225Gly) n.656A>G c.377A>G (p.Asp126Gly) c.-345A>G (n.-345A>G) | gnomAD v4 |
19 | g.12663792T>G | CA404252946 | MAN2B1 | c.674A>C (p.Asp225Ala) n.656A>C c.377A>C (p.Asp126Ala) c.-345A>C (n.-345A>C) | |
19 | g.12663793C>A | CA404252951 | MAN2B1 | c.673G>T (p.Asp225Tyr) n.655G>T c.376G>T (p.Asp126Tyr) c.-346G>T (n.-346G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12663793C= | CA2323506907 | MAN2B1 | c.673G= (p.Asp225=) n.655G= c.376G= (p.Asp126=) c.-346G= (n.-346G=) | |
19 | g.12663793C>G | CA404252948 | MAN2B1 | c.673G>C (p.Asp225His) n.655G>C c.376G>C (p.Asp126His) c.-346G>C (n.-346G>C) | ClinVar dbSNP |
19 | g.12663793C>T | CA404252950 | MAN2B1 | c.673G>A (p.Asp225Asn) n.655G>A c.376G>A (p.Asp126Asn) c.-346G>A (n.-346G>A) | |
19 | g.12663794T>A | CA404252953 | MAN2B1 | c.672A>T (p.Gln224His) n.654A>T c.375A>T (p.Gln125His) c.-347A>T (n.-347A>T) | |
19 | g.12663794T>C | CA505625727 | MAN2B1 | c.672A>G (p.Gln224=) n.654A>G c.375A>G (p.Gln125=) c.-347A>G (n.-347A>G) | gnomAD v4 |
19 | g.12663794T>G | CA404252955 | MAN2B1 | c.672A>C (p.Gln224His) n.654A>C c.375A>C (p.Gln125His) c.-347A>C (n.-347A>C) | |
19 | g.12663795T>A | CA404252957 | MAN2B1 | c.671A>T (p.Gln224Leu) n.653A>T c.374A>T (p.Gln125Leu) c.-348A>T (n.-348A>T) | |
19 | g.12663795T>C | CA9226735 | MAN2B1 | c.671A>G (p.Gln224Arg) n.653A>G c.374A>G (p.Gln125Arg) c.-348A>G (n.-348A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12663795T>G | CA404252960 | MAN2B1 | c.671A>C (p.Gln224Pro) n.653A>C c.374A>C (p.Gln125Pro) c.-348A>C (n.-348A>C) | |
19 | g.12663795T= | CA2323506908 | MAN2B1 | c.671A= (p.Gln224=) n.653A= c.374A= (p.Gln125=) c.-348A= (n.-348A=) |