Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44115705_44115728del | CA2652955918 | JPH2 | c.1951_1974del (p.Lys651_Ala658del) | gnomAD v4 |
20 | g.44115712_44115729dup | CA16616217 | JPH2 | c.1948_1965dup (p.Arg655_Lys656insAlaLysLysLysAlaArg) | ClinVar dbSNP |
20 | g.44115722_44115724del | CA9868557 | JPH2 | c.1957_1959del (p.Lys653del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115722C>A | CA409099612 | JPH2 | c.1953G>T (p.Lys651Asn) | |
20 | g.44115722C>G | CA409099613 | JPH2 | c.1953G>C (p.Lys651Asn) | |
20 | g.44115722C>T | CA510738714 | JPH2 | c.1953G>A (p.Lys651=) | gnomAD v4 |
20 | g.44115722_44115723delinsCT | CA2365625098 | JPH2 | c.1952_1953delinsAG (p.Lys651=) | |
20 | g.44115723T>A | CA409099614 | JPH2 | c.1952A>T (p.Lys651Met) | |
20 | g.44115723T>C | CA409099616 | JPH2 | c.1952A>G (p.Lys651Arg) | gnomAD v4 |
20 | g.44115723T>G | CA409099615 | JPH2 | c.1952A>C (p.Lys651Thr) | |
20 | g.44115724del | CA915951964 | JPH2 | c.1952del (p.Lys651ArgfsTer30) | |
20 | g.44115724T>A | CA409099617 | JPH2 | c.1951A>T (p.Lys651Ter) | |
20 | g.44115724T>C | CA237199 | JPH2 | c.1951A>G (p.Lys651Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115724T>G | CA409099618 | JPH2 | c.1951A>C (p.Lys651Gln) | |
20 | g.44115724T= | CA2365625099 | JPH2 | c.1951A= (p.Lys651=) | |
20 | g.44115725G>A | CA314642367 | JPH2 | c.1950C>T (p.Ala650=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115725G>C | CA510738715 | JPH2 | c.1950C>G (p.Ala650=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44115725G= | CA2365625100 | JPH2 | c.1950C= (p.Ala650=) | |
20 | g.44115725G>T | CA510738716 | JPH2 | c.1950C>A (p.Ala650=) | ClinVar |
20 | g.44115726G>A | CA409099619 | JPH2 | c.1949C>T (p.Ala650Val) | |
20 | g.44115726G>C | CA409099620 | JPH2 | c.1949C>G (p.Ala650Gly) | dbSNP |
20 | g.44115726G= | CA2365625101 | JPH2 | c.1949C= (p.Ala650=) | |
20 | g.44115726G>T | CA9868558 | JPH2 | c.1949C>A (p.Ala650Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115727C>A | CA409099621 | JPH2 | c.1948G>T (p.Ala650Ser) | dbSNP |
20 | g.44115727C= | CA2365625102 | JPH2 | c.1948G= (p.Ala650=) | |
20 | g.44115727C>G | CA314642372 | JPH2 | c.1948G>C (p.Ala650Pro) | dbSNP |
20 | g.44115727C>T | CA9868559 | JPH2 | c.1948G>A (p.Ala650Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44115731del | CA2652955919 | JPH2 | c.1948del (p.Ala650ProfsTer?) | gnomAD v4 |
20 | g.44115728C>A | CA510738717 | JPH2 | c.1947G>T (p.Gly649=) | |
20 | g.44115728C= | CA2365625103 | JPH2 | c.1947G= (p.Gly649=) | |
20 | g.44115728C>G | CA510738718 | JPH2 | c.1947G>C (p.Gly649=) | dbSNP gnomAD v4 |
20 | g.44115728C>T | CA9868560 | JPH2 | c.1947G>A (p.Gly649=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115729C>A | CA409099622 | JPH2 | c.1946G>T (p.Gly649Val) | |
20 | g.44115729C>G | CA409099623 | JPH2 | c.1946G>C (p.Gly649Ala) | |
20 | g.44115729C>T | CA409099624 | JPH2 | c.1946G>A (p.Gly649Glu) | |
20 | g.44115730C>A | CA9868561 | JPH2 | c.1945G>T (p.Gly649Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44115730C= | CA2365625104 | JPH2 | c.1945G= (p.Gly649=) | |
20 | g.44115730C>G | CA409099626 | JPH2 | c.1945G>C (p.Gly649Arg) | |
20 | g.44115730C>T | CA409099625 | JPH2 | c.1945G>A (p.Gly649Arg) | COSMIC |
20 | g.44115731C>A | CA510738719 | JPH2 | c.1944G>T (p.Ala648=) | |
20 | g.44115731C= | CA2365625105 | JPH2 | c.1944G= (p.Ala648=) | |
20 | g.44115731C>G | CA510738720 | JPH2 | c.1944G>C (p.Ala648=) | |
20 | g.44115731C>T | CA9868562 | JPH2 | c.1944G>A (p.Ala648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44115732G>A | CA409099627 | JPH2 | c.1943C>T (p.Ala648Val) | dbSNP gnomAD v4 COSMIC |
20 | g.44115732G>C | CA409099628 | JPH2 | c.1943C>G (p.Ala648Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44115732G= | CA2365625106 | JPH2 | c.1943C= (p.Ala648=) | |
20 | g.44115732G>T | CA409099629 | JPH2 | c.1943C>A (p.Ala648Glu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44115733C>A | CA409099630 | JPH2 | c.1942G>T (p.Ala648Ser) | dbSNP gnomAD v4 |
20 | g.44115733C= | CA2365625107 | JPH2 | c.1942G= (p.Ala648=) | |
20 | g.44115733C>G | CA409099631 | JPH2 | c.1942G>C (p.Ala648Pro) | gnomAD v4 |