| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44118499_44118512del | CA2652956020 | JPH2 | c.1288+2_1288+15del | gnomAD v4 |
| 20 | g.44118511G>A | CA088112 | JPH2 | c.1282C>T (p.Gln428Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118511G>C | CA409101667 | JPH2 | c.1282C>G (p.Gln428Glu) | |
| 20 | g.44118511G= | CA2365626444 | JPH2 | c.1282C= (p.Gln428=) | |
| 20 | g.44118511G>T | CA409101666 | JPH2 | c.1282C>A (p.Gln428Lys) | ClinVar gnomAD v4 |
| 20 | g.44118512del | CA2974333349 | JPH2 | c.1282del (p.Gln428SerfsTer?) | |
| 20 | g.44118512G>A | CA510571357 | JPH2 | c.1281C>T (p.Tyr427=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44118512G>C | CA409101668 | JPH2 | c.1281C>G (p.Tyr427Ter) | COSMIC |
| 20 | g.44118512G= | CA2365626445 | JPH2 | c.1281C= (p.Tyr427=) | |
| 20 | g.44118512G>T | CA409101669 | JPH2 | c.1281C>A (p.Tyr427Ter) | COSMIC |
| 20 | g.44118513T>A | CA409101670 | JPH2 | c.1280A>T (p.Tyr427Phe) | |
| 20 | g.44118513T>C | CA409101671 | JPH2 | c.1280A>G (p.Tyr427Cys) | |
| 20 | g.44118513T>G | CA409101672 | JPH2 | c.1280A>C (p.Tyr427Ser) | |
| 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.44118515del | CA2974333352 | JPH2 | c.1278del (p.Tyr427ThrfsTer?) | |
| 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.44118517dup | CA2974333353 | JPH2 | c.1277dup (p.Tyr427LeufsTer?) | |
| 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.44118520_44118521del | CA2974333356 | JPH2 | c.1272_1273del (p.Asp425LeufsTer?) | |
| 20 | g.44118521del | CA2974333355 | JPH2 | c.1273del (p.Asp425ThrfsTer?) | |
| 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.44118523del | CA2974333358 | JPH2 | c.1271del (p.Pro424ArgfsTer?) |