Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44118514A= | CA2365626446 | JPH2 | c.1279T= (p.Tyr427=) | |
20 | g.44118514A>C | CA409101673 | JPH2 | c.1279T>G (p.Tyr427Asp) | |
20 | g.44118514A>G | CA409101674 | JPH2 | c.1279T>C (p.Tyr427His) | |
20 | g.44118514A>T | CA409101675 | JPH2 | c.1279T>A (p.Tyr427Asn) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.44118515G>A | CA510571358 | JPH2 | c.1278C>T (p.Phe426=) | |
20 | g.44118515G>C | CA409101676 | JPH2 | c.1278C>G (p.Phe426Leu) | |
20 | g.44118515G>T | CA409101677 | JPH2 | c.1278C>A (p.Phe426Leu) | COSMIC |
20 | g.44118516A>C | CA409101678 | JPH2 | c.1277T>G (p.Phe426Cys) | |
20 | g.44118516A>G | CA409101679 | JPH2 | c.1277T>C (p.Phe426Ser) | gnomAD v4 |
20 | g.44118516A>T | CA409101680 | JPH2 | c.1277T>A (p.Phe426Tyr) | |
20 | g.44118517A>C | CA409101681 | JPH2 | c.1276T>G (p.Phe426Val) | |
20 | g.44118517A>G | CA409101683 | JPH2 | c.1276T>C (p.Phe426Leu) | |
20 | g.44118517A>T | CA409101682 | JPH2 | c.1276T>A (p.Phe426Ile) | |
20 | g.44118518G>A | CA510571359 | JPH2 | c.1275C>T (p.Asp425=) | |
20 | g.44118518G>C | CA409101684 | JPH2 | c.1275C>G (p.Asp425Glu) | |
20 | g.44118518G>T | CA409101685 | JPH2 | c.1275C>A (p.Asp425Glu) | ClinVar dbSNP |
20 | g.44118519T>A | CA409101686 | JPH2 | c.1274A>T (p.Asp425Val) | |
20 | g.44118519T>C | CA409101687 | JPH2 | c.1274A>G (p.Asp425Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.44118519T>G | CA409101688 | JPH2 | c.1274A>C (p.Asp425Ala) | |
20 | g.44118519T= | CA2365626447 | JPH2 | c.1274A= (p.Asp425=) | |
20 | g.44118520C>A | CA409101689 | JPH2 | c.1273G>T (p.Asp425Tyr) | |
20 | g.44118520C= | CA2365626448 | JPH2 | c.1273G= (p.Asp425=) | |
20 | g.44118520C>G | CA409101690 | JPH2 | c.1273G>C (p.Asp425His) | |
20 | g.44118520C>T | CA409101691 | JPH2 | c.1273G>A (p.Asp425Asn) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44118521C>A | CA510571360 | JPH2 | c.1272G>T (p.Pro424=) | |
20 | g.44118521C= | CA2365626449 | JPH2 | c.1272G= (p.Pro424=) | |
20 | g.44118521C>G | CA510571361 | JPH2 | c.1272G>C (p.Pro424=) | |
20 | g.44118521C>T | CA9868689 | JPH2 | c.1272G>A (p.Pro424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44118522G>A | CA9868690 | JPH2 | c.1271C>T (p.Pro424Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44118522G>C | CA409101693 | JPH2 | c.1271C>G (p.Pro424Arg) | |
20 | g.44118522G= | CA2365626450 | JPH2 | c.1271C= (p.Pro424=) | |
20 | g.44118522G>T | CA409101692 | JPH2 | c.1271C>A (p.Pro424Gln) | |
20 | g.44118523G>A | CA409101694 | JPH2 | c.1270C>T (p.Pro424Ser) | gnomAD v4 COSMIC |
20 | g.44118523G>C | CA409101695 | JPH2 | c.1270C>G (p.Pro424Ala) | |
20 | g.44118523G>T | CA409101696 | JPH2 | c.1270C>A (p.Pro424Thr) | |
20 | g.44118524A>C | CA510571362 | JPH2 | c.1269T>G (p.Ala423=) | |
20 | g.44118524A>G | CA510571363 | JPH2 | c.1269T>C (p.Ala423=) | |
20 | g.44118524A>T | CA510571364 | JPH2 | c.1269T>A (p.Ala423=) | |
20 | g.44118525G>A | CA409101697 | JPH2 | c.1268C>T (p.Ala423Val) | |
20 | g.44118525G>C | CA409101698 | JPH2 | c.1268C>G (p.Ala423Gly) | |
20 | g.44118525G>T | CA409101699 | JPH2 | c.1268C>A (p.Ala423Asp) | |
20 | g.44118526C>A | CA9868691 | JPH2 | c.1267G>T (p.Ala423Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44118526C= | CA2365626451 | JPH2 | c.1267G= (p.Ala423=) | |
20 | g.44118526C>G | CA409101700 | JPH2 | c.1267G>C (p.Ala423Pro) | |
20 | g.44118526C>T | CA409101701 | JPH2 | c.1267G>A (p.Ala423Thr) | gnomAD v4 |
20 | g.44118527C>A | CA510571365 | JPH2 | c.1266G>T (p.Leu422=) | |
20 | g.44118527C>G | CA510571366 | JPH2 | c.1266G>C (p.Leu422=) | |
20 | g.44118527C>T | CA510571367 | JPH2 | c.1266G>A (p.Leu422=) | |
20 | g.44118528A>C | CA409101702 | JPH2 | c.1265T>G (p.Leu422Arg) | gnomAD v4 |
20 | g.44118528A>G | CA409101703 | JPH2 | c.1265T>C (p.Leu422Pro) |