Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.97611582C>A | CA377983545 | HOGA1 | c.907C>A (p.Arg303Ser) c.418C>A (p.Arg140Ser) c.345+9592C>A (n.345+9592C>A) | |
10 | g.97611582C= | CA1930507050 | HOGA1 | c.907C= (p.Arg303=) c.418C= (p.Arg140=) c.345+9592C= (n.345+9592C=) | |
10 | g.97611582C>G | CA377983546 | HOGA1 | c.907C>G (p.Arg303Gly) c.418C>G (p.Arg140Gly) c.345+9592C>G (n.345+9592C>G) | ClinVar |
10 | g.97611582C>T | CA203968 | HOGA1 | c.907C>T (p.Arg303Cys) c.418C>T (p.Arg140Cys) c.345+9592C>T (n.345+9592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97611583G>A | CA5634306 | HOGA1 | c.908G>A (p.Arg303His) c.419G>A (p.Arg140His) c.345+9593G>A (n.345+9593G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.97611583G>C | CA377983552 | HOGA1 | c.908G>C (p.Arg303Pro) c.419G>C (p.Arg140Pro) c.345+9593G>C (n.345+9593G>C) | |
10 | g.97611583G= | CA1930507055 | HOGA1 | c.908G= (p.Arg303=) c.419G= (p.Arg140=) c.345+9593G= (n.345+9593G=) | |
10 | g.97611583G>T | CA377983554 | HOGA1 | c.908G>T (p.Arg303Leu) c.419G>T (p.Arg140Leu) c.345+9593G>T (n.345+9593G>T) | gnomAD v4 |
10 | g.97611584C>A | CA471092782 | HOGA1 | c.909C>A (p.Arg303=) c.420C>A (p.Arg140=) c.345+9594C>A (n.345+9594C>A) | |
10 | g.97611584C= | CA1930507058 | HOGA1 | c.909C= (p.Arg303=) c.420C= (p.Arg140=) c.345+9594C= (n.345+9594C=) | |
10 | g.97611584C>G | CA471092783 | HOGA1 | c.909C>G (p.Arg303=) c.420C>G (p.Arg140=) c.345+9594C>G (n.345+9594C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97611584C>T | CA5634307 | HOGA1 | c.909C>T (p.Arg303=) c.420C>T (p.Arg140=) c.345+9594C>T (n.345+9594C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.97611585G>A | CA5634308 | HOGA1 | c.910G>A (p.Ala304Thr) c.421G>A (p.Ala141Thr) c.345+9595G>A (n.345+9595G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.97611585G>C | CA377983559 | HOGA1 | c.910G>C (p.Ala304Pro) c.421G>C (p.Ala141Pro) c.345+9595G>C (n.345+9595G>C) | |
10 | g.97611585G= | CA1930507062 | HOGA1 | c.910G= (p.Ala304=) c.421G= (p.Ala141=) c.345+9595G= (n.345+9595G=) | |
10 | g.97611585G>T | CA377983561 | HOGA1 | c.910G>T (p.Ala304Ser) c.421G>T (p.Ala141Ser) c.345+9595G>T (n.345+9595G>T) | |
10 | g.97611585_97611586insT | CA2610415652 | HOGA1 | c.910_911insT (p.Ala304ValfsTer10) c.421_422insT (p.Ala141ValfsTer10) c.345+9595_345+9596insT (n.345+9595_345+9596insT) | gnomAD v4 |
10 | g.97611586C>A | CA377983565 | HOGA1 | c.911C>A (p.Ala304Asp) c.422C>A (p.Ala141Asp) c.345+9596C>A (n.345+9596C>A) | |
10 | g.97611586C= | CA1930507065 | HOGA1 | c.911C= (p.Ala304=) c.422C= (p.Ala141=) c.345+9596C= (n.345+9596C=) | |
10 | g.97611586C>G | CA377983567 | HOGA1 | c.911C>G (p.Ala304Gly) c.422C>G (p.Ala141Gly) c.345+9596C>G (n.345+9596C>G) | |
10 | g.97611586C>T | CA5634309 | HOGA1 | c.911C>T (p.Ala304Val) c.422C>T (p.Ala141Val) c.345+9596C>T (n.345+9596C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97611590del | CA2610415653 | HOGA1 | c.915del (p.Leu306CysfsTer4) c.426del (p.Leu143CysfsTer4) c.345+9600del (n.345+9600del) | gnomAD v4 |
10 | g.97611587C>A | CA203934 | HOGA1 | c.912C>A (p.Ala304=) c.423C>A (p.Ala141=) c.345+9597C>A (n.345+9597C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97611587C= | CA1930507069 | HOGA1 | c.912C= (p.Ala304=) c.423C= (p.Ala141=) c.345+9597C= (n.345+9597C=) | |
10 | g.97611587C>G | CA471092784 | HOGA1 | c.912C>G (p.Ala304=) c.423C>G (p.Ala141=) c.345+9597C>G (n.345+9597C>G) | |
10 | g.97611587C>T | CA471092785 | HOGA1 | c.912C>T (p.Ala304=) c.423C>T (p.Ala141=) c.345+9597C>T (n.345+9597C>T) | |
10 | g.97611588C>A | CA377983573 | HOGA1 | c.913C>A (p.Pro305Thr) c.424C>A (p.Pro142Thr) c.345+9598C>A (n.345+9598C>A) | |
10 | g.97611588C= | CA1930507072 | HOGA1 | c.913C= (p.Pro305=) c.424C= (p.Pro142=) c.345+9598C= (n.345+9598C=) | |
10 | g.97611588C>G | CA377983575 | HOGA1 | c.913C>G (p.Pro305Ala) c.424C>G (p.Pro142Ala) c.345+9598C>G (n.345+9598C>G) | |
10 | g.97611588C>T | CA377983577 | HOGA1 | c.913C>T (p.Pro305Ser) c.424C>T (p.Pro142Ser) c.345+9598C>T (n.345+9598C>T) | dbSNP gnomAD v4 |
10 | g.97611589C>A | CA377983579 | HOGA1 | c.914C>A (p.Pro305His) c.425C>A (p.Pro142His) c.345+9599C>A (n.345+9599C>A) | |
10 | g.97611589C>G | CA377983581 | HOGA1 | c.914C>G (p.Pro305Arg) c.425C>G (p.Pro142Arg) c.345+9599C>G (n.345+9599C>G) | |
10 | g.97611589C>T | CA377983583 | HOGA1 | c.914C>T (p.Pro305Leu) c.425C>T (p.Pro142Leu) c.345+9599C>T (n.345+9599C>T) | |
10 | g.97611590C>A | CA471092786 | HOGA1 | c.915C>A (p.Pro305=) c.426C>A (p.Pro142=) c.345+9600C>A (n.345+9600C>A) | |
10 | g.97611590C= | CA1930507074 | HOGA1 | c.915C= (p.Pro305=) c.426C= (p.Pro142=) c.345+9600C= (n.345+9600C=) | |
10 | g.97611590C>G | CA471092787 | HOGA1 | c.915C>G (p.Pro305=) c.426C>G (p.Pro142=) c.345+9600C>G (n.345+9600C>G) | gnomAD v4 |
10 | g.97611590C>T | CA471092788 | HOGA1 | c.915C>T (p.Pro305=) c.426C>T (p.Pro142=) c.345+9600C>T (n.345+9600C>T) | dbSNP |
10 | g.97611591T>A | CA377983588 | HOGA1 | c.916T>A (p.Leu306Met) c.427T>A (p.Leu143Met) c.345+9601T>A (n.345+9601T>A) | |
10 | g.97611591T>C | CA471092789 | HOGA1 | c.916T>C (p.Leu306=) c.427T>C (p.Leu143=) c.345+9601T>C (n.345+9601T>C) | gnomAD v4 |
10 | g.97611591T>G | CA377983586 | HOGA1 | c.916T>G (p.Leu306Val) c.427T>G (p.Leu143Val) c.345+9601T>G (n.345+9601T>G) | |
10 | g.97611592T>A | CA377983590 | HOGA1 | c.917T>A (p.Leu306Ter) c.428T>A (p.Leu143Ter) c.345+9602T>A (n.345+9602T>A) | |
10 | g.97611592T>C | CA377983592 | HOGA1 | c.917T>C (p.Leu306Ser) c.428T>C (p.Leu143Ser) c.345+9602T>C (n.345+9602T>C) | |
10 | g.97611592T>G | CA377983594 | HOGA1 | c.917T>G (p.Leu306Trp) c.428T>G (p.Leu143Trp) c.345+9602T>G (n.345+9602T>G) | |
10 | g.97611593G>A | CA471092790 | HOGA1 | c.918G>A (p.Leu306=) c.429G>A (p.Leu143=) c.345+9603G>A (n.345+9603G>A) | |
10 | g.97611593G>C | CA377983597 | HOGA1 | c.918G>C (p.Leu306Phe) c.429G>C (p.Leu143Phe) c.345+9603G>C (n.345+9603G>C) | |
10 | g.97611593G>T | CA377983599 | HOGA1 | c.918G>T (p.Leu306Phe) c.429G>T (p.Leu143Phe) c.345+9603G>T (n.345+9603G>T) | |
10 | g.97611594C>A | CA377983602 | HOGA1 | c.919C>A (p.Gln307Lys) c.430C>A (p.Gln144Lys) c.345+9604C>A (n.345+9604C>A) | |
10 | g.97611594C>G | CA377983604 | HOGA1 | c.919C>G (p.Gln307Glu) c.430C>G (p.Gln144Glu) c.345+9604C>G (n.345+9604C>G) | |
10 | g.97611594C>T | CA377983607 | HOGA1 | c.919C>T (p.Gln307Ter) c.430C>T (p.Gln144Ter) c.345+9604C>T (n.345+9604C>T) | gnomAD v4 |
10 | g.97611595A= | CA1930507076 | HOGA1 | c.920A= (p.Gln307=) c.431A= (p.Gln144=) c.345+9605A= (n.345+9605A=) |