Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532268_129532358dup | CA915941573 | RHO | c.548_638dup (p.Ile214AlafsTer?) | ClinVar dbSNP |
3 | g.129532352A= | CA1401211236 | RHO | c.632A= (p.His211=) | |
3 | g.129532352A>C | CA256674 | RHO | c.632A>C (p.His211Pro) | ClinVar dbSNP |
3 | g.129532352A>G | CA354469894 | RHO | c.632A>G (p.His211Arg) | ClinVar dbSNP |
3 | g.129532352A>T | CA354469895 | RHO | c.632A>T (p.His211Leu) | |
3 | g.129532353C>A | CA354469897 | RHO | c.633C>A (p.His211Gln) | |
3 | g.129532353C= | CA1401211242 | RHO | c.633C= (p.His211=) | |
3 | g.129532353C>G | CA354469899 | RHO | c.633C>G (p.His211Gln) | |
3 | g.129532353C>T | CA2607228 | RHO | c.633C>T (p.His211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532354T>A | CA354469902 | RHO | c.634T>A (p.Phe212Ile) | |
3 | g.129532354T>C | CA354469904 | RHO | c.634T>C (p.Phe212Leu) | |
3 | g.129532354T>G | CA354469901 | RHO | c.634T>G (p.Phe212Val) | |
3 | g.129532355T>A | CA354469906 | RHO | c.635T>A (p.Phe212Tyr) | |
3 | g.129532355T>C | CA354469907 | RHO | c.635T>C (p.Phe212Ser) | |
3 | g.129532355T>G | CA354469909 | RHO | c.635T>G (p.Phe212Cys) | |
3 | g.129532356C>A | CA354469911 | RHO | c.636C>A (p.Phe212Leu) | |
3 | g.129532356C>G | CA354469913 | RHO | c.636C>G (p.Phe212Leu) | |
3 | g.129532356C>T | CA435768998 | RHO | c.636C>T (p.Phe212=) | |
3 | g.129532357A>C | CA354469914 | RHO | c.637A>C (p.Thr213Pro) | |
3 | g.129532357A>G | CA354469916 | RHO | c.637A>G (p.Thr213Ala) | |
3 | g.129532357A>T | CA354469918 | RHO | c.637A>T (p.Thr213Ser) | |
3 | g.129532358C>A | CA354469920 | RHO | c.638C>A (p.Thr213Asn) | dbSNP |
3 | g.129532358C= | CA1401211246 | RHO | c.638C= (p.Thr213=) | |
3 | g.129532358C>G | CA354469921 | RHO | c.638C>G (p.Thr213Ser) | |
3 | g.129532358C>T | CA354469923 | RHO | c.638C>T (p.Thr213Ile) | dbSNP |
3 | g.129532359C>A | CA435769003 | RHO | c.639C>A (p.Thr213=) | |
3 | g.129532359C= | CA1401211249 | RHO | c.639C= (p.Thr213=) | |
3 | g.129532359C>G | CA82620540 | RHO | c.639C>G (p.Thr213=) | dbSNP |
3 | g.129532359C>T | CA435769004 | RHO | c.639C>T (p.Thr213=) | COSMIC |
3 | g.129532360A= | CA1401211251 | RHO | c.640A= (p.Ile214=) | |
3 | g.129532360A>C | CA354469925 | RHO | c.640A>C (p.Ile214Leu) | |
3 | g.129532360A>G | CA82620545 | RHO | c.640A>G (p.Ile214Val) | dbSNP |
3 | g.129532360A>T | CA354469926 | RHO | c.640A>T (p.Ile214Phe) | |
3 | g.129532361T>A | CA354469932 | RHO | c.641T>A (p.Ile214Asn) | ClinVar |
3 | g.129532361T>C | CA354469931 | RHO | c.641T>C (p.Ile214Thr) | gnomAD v4 |
3 | g.129532361T>G | CA354469929 | RHO | c.641T>G (p.Ile214Ser) | |
3 | g.129532361_129532362insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | CA2758361646 | RHO | c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG (p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisSerProSer) | |
3 | g.129532362C>A | CA2607229 | RHO | c.642C>A (p.Ile214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129532362C= | CA1401211253 | RHO | c.642C= (p.Ile214=) | |
3 | g.129532362C>G | CA354469934 | RHO | c.642C>G (p.Ile214Met) | |
3 | g.129532362C>T | CA2607230 | RHO | c.642C>T (p.Ile214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129532363C>A | CA354469937 | RHO | c.643C>A (p.Pro215Thr) | |
3 | g.129532363C>G | CA354469938 | RHO | c.643C>G (p.Pro215Ala) | ClinVar dbSNP |
3 | g.129532363C>T | CA354469939 | RHO | c.643C>T (p.Pro215Ser) | |
3 | g.129532364C>A | CA354469942 | RHO | c.644C>A (p.Pro215His) | |
3 | g.129532364C= | CA1401211255 | RHO | c.644C= (p.Pro215=) | |
3 | g.129532364C>G | CA354469943 | RHO | c.644C>G (p.Pro215Arg) | |
3 | g.129532364C>T | CA354469945 | RHO | c.644C>T (p.Pro215Leu) | ClinVar dbSNP |
3 | g.129532365C>A | CA435769005 | RHO | c.645C>A (p.Pro215=) | gnomAD v4 |
3 | g.129532365C>G | CA435769006 | RHO | c.645C>G (p.Pro215=) | gnomAD v4 |