Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10611125C>A | CA370289594 | RP1L1 | c.2973G>T (p.Glu991Asp) | |
8 | g.10611125C= | CA1763383947 | RP1L1 | c.2973G= (p.Glu991=) | |
8 | g.10611125C>G | CA370289595 | RP1L1 | c.2973G>C (p.Glu991Asp) | gnomAD v4 |
8 | g.10611125C>T | CA4624635 | RP1L1 | c.2973G>A (p.Glu991=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611126T>A | CA370289596 | RP1L1 | c.2972A>T (p.Glu991Val) | |
8 | g.10611126T>C | CA4624636 | RP1L1 | c.2972A>G (p.Glu991Gly) | dbSNP ExAC gnomAD v2 |
8 | g.10611126T>G | CA370289597 | RP1L1 | c.2972A>C (p.Glu991Ala) | |
8 | g.10611126T= | CA1763383952 | RP1L1 | c.2972A= (p.Glu991=) | |
8 | g.10611127C>A | CA370289598 | RP1L1 | c.2971G>T (p.Glu991Ter) | gnomAD v4 |
8 | g.10611127C= | CA1763383958 | RP1L1 | c.2971G= (p.Glu991=) | |
8 | g.10611127C>G | CA370289599 | RP1L1 | c.2971G>C (p.Glu991Gln) | gnomAD v4 |
8 | g.10611127C>T | CA4624638 | RP1L1 | c.2971G>A (p.Glu991Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611127_10611128delinsCG | CA1763383960 | RP1L1 | c.2970_2971delinsCG (p.Pro990=) | |
8 | g.10611128G>A | CA4624639 | RP1L1 | c.2970C>T (p.Pro990=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611128G>C | CA459619091 | RP1L1 | c.2970C>G (p.Pro990=) | gnomAD v4 |
8 | g.10611128G= | CA1763383964 | RP1L1 | c.2970C= (p.Pro990=) | |
8 | g.10611128G>T | CA459619090 | RP1L1 | c.2970C>A (p.Pro990=) | |
8 | g.10611131del | CA4624637 | RP1L1 | c.2970del (p.Glu991ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611129G>A | CA370289601 | RP1L1 | c.2969C>T (p.Pro990Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611129G>C | CA370289602 | RP1L1 | c.2969C>G (p.Pro990Arg) | |
8 | g.10611129G= | CA1763383967 | RP1L1 | c.2969C= (p.Pro990=) | |
8 | g.10611129G>T | CA370289600 | RP1L1 | c.2969C>A (p.Pro990His) | |
8 | g.10611130G>A | CA4624640 | RP1L1 | c.2968C>T (p.Pro990Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611130G>C | CA370289603 | RP1L1 | c.2968C>G (p.Pro990Ala) | |
8 | g.10611130G= | CA1763383971 | RP1L1 | c.2968C= (p.Pro990=) | |
8 | g.10611130G>T | CA370289604 | RP1L1 | c.2968C>A (p.Pro990Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611131G>A | CA4624641 | RP1L1 | c.2967C>T (p.Gly989=) | dbSNP ExAC |
8 | g.10611131G>C | CA4624642 | RP1L1 | c.2967C>G (p.Gly989=) | dbSNP ExAC gnomAD v2 |
8 | g.10611131G= | CA1763383974 | RP1L1 | c.2967C= (p.Gly989=) | |
8 | g.10611131G>T | CA459619098 | RP1L1 | c.2967C>A (p.Gly989=) | dbSNP gnomAD v4 |
8 | g.10611132C>A | CA370289829 | RP1L1 | c.2966G>T (p.Gly989Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611132C= | CA1763383981 | RP1L1 | c.2966G= (p.Gly989=) | |
8 | g.10611132C>G | CA370289830 | RP1L1 | c.2966G>C (p.Gly989Ala) | |
8 | g.10611132C>T | CA370289831 | RP1L1 | c.2966G>A (p.Gly989Asp) | |
8 | g.10611133C>A | CA370289832 | RP1L1 | c.2965G>T (p.Gly989Cys) | dbSNP |
8 | g.10611133C= | CA1763383983 | RP1L1 | c.2965G= (p.Gly989=) | |
8 | g.10611133C>G | CA370289833 | RP1L1 | c.2965G>C (p.Gly989Arg) | |
8 | g.10611133C>T | CA370289834 | RP1L1 | c.2965G>A (p.Gly989Ser) | dbSNP gnomAD v4 |
8 | g.10611134T>A | CA370289835 | RP1L1 | c.2964A>T (p.Arg988Ser) | |
8 | g.10611134T>C | CA4624643 | RP1L1 | c.2964A>G (p.Arg988=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611134T>G | CA370289836 | RP1L1 | c.2964A>C (p.Arg988Ser) | |
8 | g.10611134T= | CA1763383986 | RP1L1 | c.2964A= (p.Arg988=) | |
8 | g.10611135C>A | CA370289839 | RP1L1 | c.2963G>T (p.Arg988Ile) | |
8 | g.10611135C>G | CA370289837 | RP1L1 | c.2963G>C (p.Arg988Thr) | |
8 | g.10611135C>T | CA370289838 | RP1L1 | c.2963G>A (p.Arg988Lys) | |
8 | g.10611136T>A | CA4624644 | RP1L1 | c.2962A>T (p.Arg988Ter) | dbSNP ExAC gnomAD v2 |
8 | g.10611136T>C | CA370289840 | RP1L1 | c.2962A>G (p.Arg988Gly) | |
8 | g.10611136T>G | CA459618812 | RP1L1 | c.2962A>C (p.Arg988=) | |
8 | g.10611136T= | CA1763383990 | RP1L1 | c.2962A= (p.Arg988=) | |
8 | g.10611137C>A | CA459618819 | RP1L1 | c.2961G>T (p.Leu987=) | dbSNP gnomAD v4 |