Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10611220A= | CA1763384167 | RP1L1 | c.2878T= (p.Trp960=) | |
8 | g.10611220A>C | CA370290002 | RP1L1 | c.2878T>G (p.Trp960Gly) | |
8 | g.10611220A>G | CA115399 | RP1L1 | c.2878T>C (p.Trp960Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.10611220A>T | CA370290003 | RP1L1 | c.2878T>A (p.Trp960Arg) | |
8 | g.10611221T>A | CA370290004 | RP1L1 | c.2877A>T (p.Glu959Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10611221T>C | CA459619039 | RP1L1 | c.2877A>G (p.Glu959=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611221T>G | CA370290005 | RP1L1 | c.2877A>C (p.Glu959Asp) | |
8 | g.10611221T= | CA1763384175 | RP1L1 | c.2877A= (p.Glu959=) | |
8 | g.10611222T>A | CA370290006 | RP1L1 | c.2876A>T (p.Glu959Val) | |
8 | g.10611222T>C | CA370290007 | RP1L1 | c.2876A>G (p.Glu959Gly) | |
8 | g.10611222T>G | CA370290008 | RP1L1 | c.2876A>C (p.Glu959Ala) | |
8 | g.10611223C>A | CA370290009 | RP1L1 | c.2875G>T (p.Glu959Ter) | |
8 | g.10611223C= | CA1763384179 | RP1L1 | c.2875G= (p.Glu959=) | |
8 | g.10611223C>G | CA370290010 | RP1L1 | c.2875G>C (p.Glu959Gln) | gnomAD v4 |
8 | g.10611223C>T | CA4624672 | RP1L1 | c.2875G>A (p.Glu959Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611224G>A | CA4624673 | RP1L1 | c.2874C>T (p.Arg958=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611224G>C | CA459619044 | RP1L1 | c.2874C>G (p.Arg958=) | gnomAD v4 |
8 | g.10611224G= | CA1763384183 | RP1L1 | c.2874C= (p.Arg958=) | |
8 | g.10611224G>T | CA459619042 | RP1L1 | c.2874C>A (p.Arg958=) | dbSNP gnomAD v4 |
8 | g.10611225C>A | CA370290011 | RP1L1 | c.2873G>T (p.Arg958Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611225C= | CA1763384186 | RP1L1 | c.2873G= (p.Arg958=) | |
8 | g.10611225C>G | CA370290012 | RP1L1 | c.2873G>C (p.Arg958Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611225C>T | CA4624674 | RP1L1 | c.2873G>A (p.Arg958His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611226G>A | CA4624675 | RP1L1 | c.2872C>T (p.Arg958Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611226G>C | CA4624676 | RP1L1 | c.2872C>G (p.Arg958Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611226G= | CA1763384190 | RP1L1 | c.2872C= (p.Arg958=) | |
8 | g.10611226G>T | CA370290013 | RP1L1 | c.2872C>A (p.Arg958Ser) | |
8 | g.10611227G>A | CA459619050 | RP1L1 | c.2871C>T (p.Val957=) | dbSNP gnomAD v4 |
8 | g.10611227G>C | CA459619051 | RP1L1 | c.2871C>G (p.Val957=) | |
8 | g.10611227G= | CA1763384193 | RP1L1 | c.2871C= (p.Val957=) | |
8 | g.10611227G>T | CA459619052 | RP1L1 | c.2871C>A (p.Val957=) | |
8 | g.10611228A= | CA1763384195 | RP1L1 | c.2870T= (p.Val957=) | |
8 | g.10611228A>C | CA370290015 | RP1L1 | c.2870T>G (p.Val957Gly) | dbSNP |
8 | g.10611228A>G | CA370290016 | RP1L1 | c.2870T>C (p.Val957Ala) | |
8 | g.10611228A>T | CA370290014 | RP1L1 | c.2870T>A (p.Val957Asp) | |
8 | g.10611229C>A | CA370290017 | RP1L1 | c.2869G>T (p.Val957Phe) | gnomAD v4 |
8 | g.10611229C>G | CA370290018 | RP1L1 | c.2869G>C (p.Val957Leu) | |
8 | g.10611229C>T | CA370290019 | RP1L1 | c.2869G>A (p.Val957Ile) | |
8 | g.10611230C>A | CA459619055 | RP1L1 | c.2868G>T (p.Val956=) | |
8 | g.10611230C= | CA1763384196 | RP1L1 | c.2868G= (p.Val956=) | |
8 | g.10611230C>G | CA459619057 | RP1L1 | c.2868G>C (p.Val956=) | dbSNP |
8 | g.10611230C>T | CA459619058 | RP1L1 | c.2868G>A (p.Val956=) | |
8 | g.10611231A= | CA1763384199 | RP1L1 | c.2867T= (p.Val956=) | |
8 | g.10611231A>C | CA370290020 | RP1L1 | c.2867T>G (p.Val956Gly) | |
8 | g.10611231A>G | CA4624677 | RP1L1 | c.2867T>C (p.Val956Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611231A>T | CA370290021 | RP1L1 | c.2867T>A (p.Val956Glu) | |
8 | g.10611232C>A | CA4624678 | RP1L1 | c.2866G>T (p.Val956Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611232C= | CA1763384201 | RP1L1 | c.2866G= (p.Val956=) | |
8 | g.10611232C>G | CA370290023 | RP1L1 | c.2866G>C (p.Val956Leu) | |
8 | g.10611232C>T | CA370290022 | RP1L1 | c.2866G>A (p.Val956Met) | ClinVar gnomAD v4 |