| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.10611120T>A | CA370289583 | RP1L1 | c.2978A>T (p.Asp993Val) | dbSNP |
| 8 | g.10611120T>C | CA370289584 | RP1L1 | c.2978A>G (p.Asp993Gly) | |
| 8 | g.10611120T>G | CA370289585 | RP1L1 | c.2978A>C (p.Asp993Ala) | dbSNP |
| 8 | g.10611120T= | CA1763383932 | RP1L1 | c.2978A= (p.Asp993=) | |
| 8 | g.10611121C>A | CA370289586 | RP1L1 | c.2977G>T (p.Asp993Tyr) | |
| 8 | g.10611121C= | CA1763383935 | RP1L1 | c.2977G= (p.Asp993=) | |
| 8 | g.10611121C>G | CA370289587 | RP1L1 | c.2977G>C (p.Asp993His) | |
| 8 | g.10611121C>T | CA4624633 | RP1L1 | c.2977G>A (p.Asp993Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10611122C>A | CA459619075 | RP1L1 | c.2976G>T (p.Val992=) | |
| 8 | g.10611122C= | CA1763383942 | RP1L1 | c.2976G= (p.Val992=) | |
| 8 | g.10611122C>G | CA459619077 | RP1L1 | c.2976G>C (p.Val992=) | |
| 8 | g.10611122C>T | CA4624634 | RP1L1 | c.2976G>A (p.Val992=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10611123A= | CA1763383944 | RP1L1 | c.2975T= (p.Val992=) | |
| 8 | g.10611123A>C | CA370289588 | RP1L1 | c.2975T>G (p.Val992Gly) | dbSNP gnomAD v4 |
| 8 | g.10611123A>G | CA370289589 | RP1L1 | c.2975T>C (p.Val992Ala) | gnomAD v4 |
| 8 | g.10611123A>T | CA370289590 | RP1L1 | c.2975T>A (p.Val992Glu) | |
| 8 | g.10611124C>A | CA370289593 | RP1L1 | c.2974G>T (p.Val992Leu) | |
| 8 | g.10611124C>G | CA370289591 | RP1L1 | c.2974G>C (p.Val992Leu) | |
| 8 | g.10611124C>T | CA370289592 | RP1L1 | c.2974G>A (p.Val992Met) | |
| 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 |