Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532717T>A | CA354470757 | RHO | c.881T>A (p.Phe294Tyr) | |
3 | g.129532717T>C | CA354470759 | RHO | c.881T>C (p.Phe294Ser) | |
3 | g.129532717T>G | CA354470762 | RHO | c.881T>G (p.Phe294Cys) | |
3 | g.129532718T>A | CA354470764 | RHO | c.882T>A (p.Phe294Leu) | |
3 | g.129532718T>C | CA435769218 | RHO | c.882T>C (p.Phe294=) | |
3 | g.129532718T>G | CA354470766 | RHO | c.882T>G (p.Phe294Leu) | |
3 | g.129532719G>A | CA354470776 | RHO | c.883G>A (p.Ala295Thr) | gnomAD v4 |
3 | g.129532719G>C | CA354470772 | RHO | c.883G>C (p.Ala295Pro) | |
3 | g.129532719G>T | CA354470771 | RHO | c.883G>T (p.Ala295Ser) | |
3 | g.129532720C>A | CA354470780 | RHO | c.884C>A (p.Ala295Asp) | |
3 | g.129532720C>G | CA354470782 | RHO | c.884C>G (p.Ala295Gly) | |
3 | g.129532720C>T | CA354470783 | RHO | c.884C>T (p.Ala295Val) | |
3 | g.129532721C>A | CA435769219 | RHO | c.885C>A (p.Ala295=) | |
3 | g.129532721C>G | CA435769220 | RHO | c.885C>G (p.Ala295=) | |
3 | g.129532721C>T | CA435769221 | RHO | c.885C>T (p.Ala295=) | |
3 | g.129532722A= | CA1401211987 | RHO | c.886A= (p.Lys296=) | |
3 | g.129532722A>C | CA354470787 | RHO | c.886A>C (p.Lys296Gln) | ClinVar dbSNP |
3 | g.129532722A>G | CA256677 | RHO | c.886A>G (p.Lys296Glu) | ClinVar dbSNP |
3 | g.129532722A>T | CA354470792 | RHO | c.886A>T (p.Lys296Ter) | |
3 | g.129532723A>C | CA354470793 | RHO | c.887A>C (p.Lys296Thr) | |
3 | g.129532723A>G | CA354470798 | RHO | c.887A>G (p.Lys296Arg) | |
3 | g.129532723A>T | CA354470795 | RHO | c.887A>T (p.Lys296Met) | |
3 | g.129532724G>A | CA435769222 | RHO | c.888G>A (p.Lys296=) | ClinVar gnomAD v4 |
3 | g.129532724G>C | CA354470800 | RHO | c.888G>C (p.Lys296Asn) | ClinVar dbSNP |
3 | g.129532724G= | CA1401211995 | RHO | c.888G= (p.Lys296=) | |
3 | g.129532724G>T | CA354470802 | RHO | c.888G>T (p.Lys296Asn) | ClinVar |
3 | g.129532725A>C | CA354470804 | RHO | c.889A>C (p.Ser297Arg) | ClinVar |
3 | g.129532725A>G | CA354470806 | RHO | c.889A>G (p.Ser297Gly) | |
3 | g.129532725A>T | CA354470808 | RHO | c.889A>T (p.Ser297Cys) | |
3 | g.129532726G>A | CA354470810 | RHO | c.890G>A (p.Ser297Asn) | |
3 | g.129532726G>C | CA354470812 | RHO | c.890G>C (p.Ser297Thr) | |
3 | g.129532726G>T | CA354470815 | RHO | c.890G>T (p.Ser297Ile) | |
3 | g.129532727C>A | CA354470817 | RHO | c.891C>A (p.Ser297Arg) | |
3 | g.129532727C= | CA1401212009 | RHO | c.891C= (p.Ser297=) | |
3 | g.129532727C>G | CA354470820 | RHO | c.891C>G (p.Ser297Arg) | ClinVar dbSNP |
3 | g.129532727C>T | CA232817 | RHO | c.891C>T (p.Ser297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532728G>A | CA2607302 | RHO | c.892G>A (p.Ala298Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129532728G>C | CA354470829 | RHO | c.892G>C (p.Ala298Pro) | |
3 | g.129532728G= | CA1401212016 | RHO | c.892G= (p.Ala298=) | |
3 | g.129532728G>T | CA354470827 | RHO | c.892G>T (p.Ala298Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129532729C>A | CA354470834 | RHO | c.893C>A (p.Ala298Asp) | dbSNP |
3 | g.129532729C= | CA1401212023 | RHO | c.893C= (p.Ala298=) | |
3 | g.129532729C>G | CA354470839 | RHO | c.893C>G (p.Ala298Gly) | COSMIC |
3 | g.129532729C>T | CA354470836 | RHO | c.893C>T (p.Ala298Val) | ClinVar |
3 | g.129532730C>A | CA435769223 | RHO | c.894C>A (p.Ala298=) | |
3 | g.129532730C= | CA1401212027 | RHO | c.894C= (p.Ala298=) | |
3 | g.129532730C>G | CA2607304 | RHO | c.894C>G (p.Ala298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129532730C>T | CA2607303 | RHO | c.894C>T (p.Ala298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532731G>A | CA2607306 | RHO | c.895G>A (p.Ala299Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532731G>C | CA354470847 | RHO | c.895G>C (p.Ala299Pro) |