Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129528962C>A | CA354496406 | RHO | c.229C>A (p.Leu77Ile) | |
3 | g.129528962C= | CA1401205713 | RHO | c.229C= (p.Leu77=) | |
3 | g.129528962C>G | CA354496410 | RHO | c.229C>G (p.Leu77Val) | |
3 | g.129528962C>T | CA354496411 | RHO | c.229C>T (p.Leu77Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.129528963T>A | CA354496413 | RHO | c.230T>A (p.Leu77His) | |
3 | g.129528963T>C | CA354496415 | RHO | c.230T>C (p.Leu77Pro) | |
3 | g.129528963T>G | CA354496417 | RHO | c.230T>G (p.Leu77Arg) | |
3 | g.129528964C>A | CA435768662 | RHO | c.231C>A (p.Leu77=) | |
3 | g.129528964C>G | CA435768663 | RHO | c.231C>G (p.Leu77=) | |
3 | g.129528964C>T | CA435768664 | RHO | c.231C>T (p.Leu77=) | |
3 | g.129528965A= | CA1401205720 | RHO | c.232A= (p.Asn78=) | |
3 | g.129528965A>C | CA354496419 | RHO | c.232A>C (p.Asn78His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129528965A>G | CA354496421 | RHO | c.232A>G (p.Asn78Asp) | |
3 | g.129528965A>T | CA354496422 | RHO | c.232A>T (p.Asn78Tyr) | ClinVar dbSNP |
3 | g.129528966A= | CA1401205724 | RHO | c.233A= (p.Asn78=) | |
3 | g.129528966A>C | CA354496424 | RHO | c.233A>C (p.Asn78Thr) | dbSNP |
3 | g.129528966A>G | CA354496428 | RHO | c.233A>G (p.Asn78Ser) | gnomAD v4 |
3 | g.129528966A>T | CA354496429 | RHO | c.233A>T (p.Asn78Ile) | ClinVar |
3 | g.129528966_129528967delinsAC | CA1401205722 | RHO | c.233_234delinsAC (p.Asn78=) | |
3 | g.129528967C>A | CA354496432 | RHO | c.234C>A (p.Asn78Lys) | |
3 | g.129528967C>G | CA354496433 | RHO | c.234C>G (p.Asn78Lys) | |
3 | g.129528967C>T | CA435768673 | RHO | c.234C>T (p.Asn78=) | gnomAD v4 |
3 | g.129528968del | CA546417604 | RHO | c.235del (p.Leu79Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528968C>A | CA354496437 | RHO | c.235C>A (p.Leu79Ile) | |
3 | g.129528968C= | CA1401205739 | RHO | c.235C= (p.Leu79=) | |
3 | g.129528968C>G | CA354496435 | RHO | c.235C>G (p.Leu79Val) | COSMIC |
3 | g.129528968C>T | CA435768675 | RHO | c.235C>T (p.Leu79=) | dbSNP gnomAD v4 |
3 | g.129528969T>A | CA354496442 | RHO | c.236T>A (p.Leu79Gln) | |
3 | g.129528969T>C | CA354496443 | RHO | c.236T>C (p.Leu79Pro) | |
3 | g.129528969T>G | CA354496447 | RHO | c.236T>G (p.Leu79Arg) | |
3 | g.129528970A>C | CA435768677 | RHO | c.237A>C (p.Leu79=) | ClinVar dbSNP gnomAD v4 |
3 | g.129528970A>G | CA435768678 | RHO | c.237A>G (p.Leu79=) | dbSNP |
3 | g.129528970A>T | CA435768679 | RHO | c.237A>T (p.Leu79=) | |
3 | g.129528971G>A | CA354496448 | RHO | c.238G>A (p.Ala80Thr) | gnomAD v4 |
3 | g.129528971G>C | CA354496450 | RHO | c.238G>C (p.Ala80Pro) | |
3 | g.129528971G= | CA1401205744 | RHO | c.238G= (p.Ala80=) | |
3 | g.129528971G>T | CA354496452 | RHO | c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528972C>A | CA354496469 | RHO | c.239C>A (p.Ala80Asp) | |
3 | g.129528972C>G | CA354496470 | RHO | c.239C>G (p.Ala80Gly) | |
3 | g.129528972C>T | CA354496471 | RHO | c.239C>T (p.Ala80Val) | |
3 | g.129528973C>A | CA435768682 | RHO | c.240C>A (p.Ala80=) | |
3 | g.129528973C= | CA1401205752 | RHO | c.240C= (p.Ala80=) | |
3 | g.129528973C>G | CA2607094 | RHO | c.240C>G (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528973C>T | CA82646936 | RHO | c.240C>T (p.Ala80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129528973_129528976delinsCGTG | CA1401205750 | RHO | c.240_243delinsCGTG (p.Ala80=) | |
3 | g.129528974G>A | CA2607095 | RHO | c.241G>A (p.Val81Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129528974G>C | CA354496473 | RHO | c.241G>C (p.Val81Leu) | |
3 | g.129528974G= | CA1401205758 | RHO | c.241G= (p.Val81=) | |
3 | g.129528974G>T | CA354496474 | RHO | c.241G>T (p.Val81Leu) | |
3 | g.129528975_129528977del | CA1401205766 | RHO | c.242_244del (p.Val81del) | ClinVar dbSNP |