Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.44159943_44159950delinsCGGCCTCG | CA2365647627 | JPH2 | c.837_844delinsCGAGGCCG (p.Phe279=) | |
20 | g.44159951_44159965dup | CA2737024103 | JPH2 | c.830_844dup (p.Ala281_Asp282insAlaProPheGluAla) | dbSNP |
20 | g.44159951_44159965del | CA2652956460 | JPH2 | c.830_844del (p.Ala277_Ala281del) | gnomAD v4 |
20 | g.44159944_44159950del | CA636173664 | JPH2 | c.837_843del (p.Phe279LeufsTer25) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44159949C>A | CA409093568 | JPH2 | c.838G>T (p.Glu280Ter) | gnomAD v4 |
20 | g.44159949C= | CA2365647633 | JPH2 | c.838G= (p.Glu280=) | |
20 | g.44159949C>G | CA9868803 | JPH2 | c.838G>C (p.Glu280Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44159949C>T | CA9868802 | JPH2 | c.838G>A (p.Glu280Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.44159949_44159950insAT | CA2365647634 | JPH2 | c.837_838insAT (p.Glu280MetfsTer27) | dbSNP |
20 | g.44159950G>A | CA9868804 | JPH2 | c.837C>T (p.Phe279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44159950G>C | CA409093569 | JPH2 | c.837C>G (p.Phe279Leu) | |
20 | g.44159950G= | CA2365647635 | JPH2 | c.837C= (p.Phe279=) | |
20 | g.44159950G>T | CA409093570 | JPH2 | c.837C>A (p.Phe279Leu) | gnomAD v4 |
20 | g.44159951A= | CA2365647636 | JPH2 | c.836T= (p.Phe279=) | |
20 | g.44159951A>C | CA409093571 | JPH2 | c.836T>G (p.Phe279Cys) | gnomAD v3 gnomAD v4 |
20 | g.44159951A>G | CA409093572 | JPH2 | c.836T>C (p.Phe279Ser) | |
20 | g.44159951A>T | CA409093573 | JPH2 | c.836T>A (p.Phe279Tyr) | dbSNP |
20 | g.44159951_44159952insTTAAAAAAAAAAA | CA636173666 | JPH2 | c.836_837insTTTTTTTTTTAAT (p.Glu280PhefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44159952A>C | CA409093576 | JPH2 | c.835T>G (p.Phe279Val) | |
20 | g.44159952A>G | CA409093575 | JPH2 | c.835T>C (p.Phe279Leu) | gnomAD v4 |
20 | g.44159952A>T | CA409093574 | JPH2 | c.835T>A (p.Phe279Ile) | |
20 | g.44159953G>A | CA9868805 | JPH2 | c.834C>T (p.Pro278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44159953G>C | CA510739617 | JPH2 | c.834C>G (p.Pro278=) | |
20 | g.44159953G= | CA2365647637 | JPH2 | c.834C= (p.Pro278=) | |
20 | g.44159953G>T | CA510739618 | JPH2 | c.834C>A (p.Pro278=) | gnomAD v4 |
20 | g.44159953_44159964delinsGGGTGCGGCCTC | CA2365647638 | JPH2 | c.823_834delinsGAGGCCGCACCC (p.Glu275=) | |
20 | g.44159954G>A | CA409093579 | JPH2 | c.833C>T (p.Pro278Leu) | COSMIC |
20 | g.44159954G>C | CA409093577 | JPH2 | c.833C>G (p.Pro278Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44159954G= | CA2365647640 | JPH2 | c.833C= (p.Pro278=) | |
20 | g.44159954G>T | CA409093578 | JPH2 | c.833C>A (p.Pro278His) | gnomAD v4 |
20 | g.44159955_44159965del | CA2365647639 | JPH2 | c.823_833del (p.Glu275LeufsTer?) | dbSNP |
20 | g.44159955G>A | CA409093580 | JPH2 | c.832C>T (p.Pro278Ser) | |
20 | g.44159955G>C | CA409093581 | JPH2 | c.832C>G (p.Pro278Ala) | gnomAD v4 |
20 | g.44159955G>T | CA409093582 | JPH2 | c.832C>A (p.Pro278Thr) | gnomAD v4 |
20 | g.44159956T>A | CA510739623 | JPH2 | c.831A>T (p.Ala277=) | |
20 | g.44159956T>C | CA510739624 | JPH2 | c.831A>G (p.Ala277=) | ClinVar |
20 | g.44159956T>G | CA510739627 | JPH2 | c.831A>C (p.Ala277=) | dbSNP gnomAD v4 COSMIC |
20 | g.44159956T= | CA2365647642 | JPH2 | c.831A= (p.Ala277=) | |
20 | g.44159956_44159977delinsTGCGGCCTCGTCGGCGCCCTCG | CA2365647641 | JPH2 | c.810_831delinsCGAGGGCGCCGACGAGGCCGCA (p.Ala270=) | |
20 | g.44159957G>A | CA409093585 | JPH2 | c.830C>T (p.Ala277Val) | |
20 | g.44159957G>C | CA409093584 | JPH2 | c.830C>G (p.Ala277Gly) | |
20 | g.44159957G>T | CA409093583 | JPH2 | c.830C>A (p.Ala277Glu) | gnomAD v4 |
20 | g.44159960_44159971dup | CA2365647643 | JPH2 | c.819_830dup (p.Ala277_Pro278insAspGluAlaAla) | dbSNP |
20 | g.44159965_44159985del | CA636173667 | JPH2 | c.810_830del (p.Glu271_Ala277del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44159958C>A | CA9868806 | JPH2 | c.829G>T (p.Ala277Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44159958C= | CA2365647644 | JPH2 | c.829G= (p.Ala277=) | |
20 | g.44159958C>G | CA409093586 | JPH2 | c.829G>C (p.Ala277Pro) | gnomAD v4 |
20 | g.44159958C>T | CA409093587 | JPH2 | c.829G>A (p.Ala277Thr) | gnomAD v3 gnomAD v4 COSMIC |
20 | g.44159959G>A | CA510739635 | JPH2 | c.828C>T (p.Ala276=) | dbSNP gnomAD v4 COSMIC |
20 | g.44159959G>C | CA510739634 | JPH2 | c.828C>G (p.Ala276=) |