Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44118613_44118614del | CA2580098214 | JPH2 | c.1180_1181del (p.Ala394GlnfsTer5) | ClinVar |
20 | g.44118614G>A | CA333092 | JPH2 | c.1179C>T (p.His393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44118614G>C | CA409101879 | JPH2 | c.1179C>G (p.His393Gln) | |
20 | g.44118614G= | CA2365626490 | JPH2 | c.1179C= (p.His393=) | |
20 | g.44118614G>T | CA409101880 | JPH2 | c.1179C>A (p.His393Gln) | gnomAD v4 |
20 | g.44118615T>A | CA409101881 | JPH2 | c.1178A>T (p.His393Leu) | |
20 | g.44118615T>C | CA409101882 | JPH2 | c.1178A>G (p.His393Arg) | gnomAD v4 |
20 | g.44118615T>G | CA409101883 | JPH2 | c.1178A>C (p.His393Pro) | |
20 | g.44118616G>A | CA409101884 | JPH2 | c.1177C>T (p.His393Tyr) | dbSNP |
20 | g.44118616G>C | CA409101885 | JPH2 | c.1177C>G (p.His393Asp) | |
20 | g.44118616G= | CA2365626491 | JPH2 | c.1177C= (p.His393=) | |
20 | g.44118616G>T | CA409101886 | JPH2 | c.1177C>A (p.His393Asn) | gnomAD v4 |
20 | g.44118617G>A | CA510571426 | JPH2 | c.1176C>T (p.Ser392=) | gnomAD v4 COSMIC |
20 | g.44118617G>C | CA409101887 | JPH2 | c.1176C>G (p.Ser392Arg) | COSMIC |
20 | g.44118617G>T | CA409101888 | JPH2 | c.1176C>A (p.Ser392Arg) | gnomAD v4 |
20 | g.44118618C>A | CA409101889 | JPH2 | c.1175G>T (p.Ser392Ile) | |
20 | g.44118618C= | CA2365626492 | JPH2 | c.1175G= (p.Ser392=) | |
20 | g.44118618C>G | CA409101890 | JPH2 | c.1175G>C (p.Ser392Thr) | |
20 | g.44118618C>T | CA9868707 | JPH2 | c.1175G>A (p.Ser392Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44118619T>A | CA409101891 | JPH2 | c.1174A>T (p.Ser392Cys) | gnomAD v4 |
20 | g.44118619T>C | CA409101893 | JPH2 | c.1174A>G (p.Ser392Gly) | |
20 | g.44118619T>G | CA409101892 | JPH2 | c.1174A>C (p.Ser392Arg) | |
20 | g.44118620T>A | CA510571427 | JPH2 | c.1173A>T (p.Thr391=) | |
20 | g.44118620T>C | CA510571428 | JPH2 | c.1173A>G (p.Thr391=) | ClinVar gnomAD v4 |
20 | g.44118620T>G | CA510571429 | JPH2 | c.1173A>C (p.Thr391=) | |
20 | g.44118621G>A | CA409101894 | JPH2 | c.1172C>T (p.Thr391Ile) | gnomAD v4 COSMIC |
20 | g.44118621G>C | CA409101895 | JPH2 | c.1172C>G (p.Thr391Arg) | COSMIC |
20 | g.44118621G>T | CA409101896 | JPH2 | c.1172C>A (p.Thr391Lys) | gnomAD v4 |
20 | g.44118622T>A | CA409101897 | JPH2 | c.1171A>T (p.Thr391Ser) | |
20 | g.44118622T>C | CA409101898 | JPH2 | c.1171A>G (p.Thr391Ala) | ClinVar gnomAD v4 |
20 | g.44118622T>G | CA409101899 | JPH2 | c.1171A>C (p.Thr391Pro) | |
20 | g.44118623C>A | CA409101900 | JPH2 | c.1170G>T (p.Arg390Ser) | |
20 | g.44118623C>G | CA409101901 | JPH2 | c.1170G>C (p.Arg390Ser) | |
20 | g.44118623C>T | CA510571430 | JPH2 | c.1170G>A (p.Arg390=) | |
20 | g.44118624del | CA2652956036 | JPH2 | c.1170del | gnomAD v4 |
20 | g.44118624C>A | CA409101902 | JPH2 | c.1170-1G>T (n.1170-1G>T) | |
20 | g.44118624C>G | CA409101903 | JPH2 | c.1170-1G>C (n.1170-1G>C) | |
20 | g.44118624C>T | CA409101904 | JPH2 | c.1170-1G>A (n.1170-1G>A) | gnomAD v4 |
20 | g.44118625T>A | CA409101907 | JPH2 | c.1170-2A>T (n.1170-2A>T) | gnomAD v4 |
20 | g.44118625T>C | CA409101906 | JPH2 | c.1170-2A>G (n.1170-2A>G) | |
20 | g.44118625T>G | CA409101905 | JPH2 | c.1170-2A>C (n.1170-2A>C) | |
20 | g.44118626A>G | CA2652956037 | JPH2 | c.1170-3T>C (n.1170-3T>C) | ClinVar gnomAD v4 |
20 | g.44118627T>C | CA2652956038 | JPH2 | c.1170-4A>G (n.1170-4A>G) | dbSNP gnomAD v4 |
20 | g.44118628G>A | CA9868708 | JPH2 | c.1170-5C>T (n.1170-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44118628G= | CA2365626493 | JPH2 | c.1170-5C= (n.1170-5C=) | |
20 | g.44118628G>T | CA2652956039 | JPH2 | c.1170-5C>A (n.1170-5C>A) | gnomAD v4 |
20 | g.44118629G>A | CA2365626495 | JPH2 | c.1170-6C>T (n.1170-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.44118629G= | CA2365626494 | JPH2 | c.1170-6C= (n.1170-6C=) | |
20 | g.44118629G>T | CA2652956040 | JPH2 | c.1170-6C>A (n.1170-6C>A) | gnomAD v4 |
20 | g.44118631G>A | CA635961142 | JPH2 | c.1170-8C>T (n.1170-8C>T) | dbSNP gnomAD v2 |