Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10622863_10622882dup | CA4625747 | RP1L1 | c.322_341dup (p.Ser114ArgfsTer?) n.572_591dup | dbSNP ExAC gnomAD v2 |
8 | g.10622867dup | CA580030623 | RP1L1 | c.339dup (p.Ser114GlnfsTer24) n.589dup | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622867del | CA2579091973 | RP1L1 | c.339del (p.Ser114ValfsTer?) n.589del | gnomAD v4 |
8 | g.10622865_10622867del | CA2686114630 | RP1L1 | c.337_339del (p.Pro113del) n.587_589del | gnomAD v4 |
8 | g.10622867G>A | CA4625752 | RP1L1 | c.335C>T (p.Thr112Ile) n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622867G>C | CA4625751 | RP1L1 | c.335C>G (p.Thr112Ser) n.585C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622867G= | CA1763390054 | RP1L1 | c.335C= (p.Thr112=) n.585C= | |
8 | g.10622867G>T | CA370300477 | RP1L1 | c.335C>A (p.Thr112Asn) n.585C>A | dbSNP |
8 | g.10622868T>A | CA370300478 | RP1L1 | c.334A>T (p.Thr112Ser) n.584A>T | |
8 | g.10622868T>C | CA370300482 | RP1L1 | c.334A>G (p.Thr112Ala) n.584A>G | |
8 | g.10622868T>G | CA370300480 | RP1L1 | c.334A>C (p.Thr112Pro) n.584A>C | dbSNP |
8 | g.10622868T= | CA1763390057 | RP1L1 | c.334A= (p.Thr112=) n.584A= | |
8 | g.10622869C>A | CA370300483 | RP1L1 | c.333G>T (p.Lys111Asn) n.583G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869C= | CA1763390062 | RP1L1 | c.333G= (p.Lys111=) n.583G= | |
8 | g.10622869C>G | CA370300484 | RP1L1 | c.333G>C (p.Lys111Asn) n.583G>C | |
8 | g.10622869C>T | CA459620418 | RP1L1 | c.333G>A (p.Lys111=) n.583G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869_10622870delinsCT | CA1763390060 | RP1L1 | c.332_333delinsAG (p.Lys111=) n.582_583delinsAG | |
8 | g.10622870T>A | CA370300486 | RP1L1 | c.332A>T (p.Lys111Met) n.582A>T | |
8 | g.10622870T>C | CA370300488 | RP1L1 | c.332A>G (p.Lys111Arg) n.582A>G | dbSNP gnomAD v4 |
8 | g.10622870T>G | CA370300489 | RP1L1 | c.332A>C (p.Lys111Thr) n.582A>C | gnomAD v4 |
8 | g.10622870T= | CA1763390069 | RP1L1 | c.332A= (p.Lys111=) n.582A= | |
8 | g.10622871del | CA916082972 | RP1L1 | c.332del (p.Lys111ArgfsTer?) n.582del | ClinVar dbSNP |
8 | g.10622870_10622871insG | CA171954798 | RP1L1 | c.331_332insC (p.Lys111ThrfsTer27) n.581_582insC | |
8 | g.10622871T>A | CA370300491 | RP1L1 | c.331A>T (p.Lys111Ter) n.581A>T | |
8 | g.10622871T>C | CA370300493 | RP1L1 | c.331A>G (p.Lys111Glu) n.581A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622871T>G | CA370300495 | RP1L1 | c.331A>C (p.Lys111Gln) n.581A>C | |
8 | g.10622871T= | CA1763390079 | RP1L1 | c.331A= (p.Lys111=) n.581A= | |
8 | g.10622871_10622872delinsTG | CA1763390076 | RP1L1 | c.330_331delinsCA (p.Pro110=) n.580_581delinsCA | |
8 | g.10622872G>A | CA171954802 | RP1L1 | c.330C>T (p.Pro110=) n.580C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622872G>C | CA4625754 | RP1L1 | c.330C>G (p.Pro110=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622872G= | CA1763390086 | RP1L1 | c.330C= (p.Pro110=) n.580C= | |
8 | g.10622872G>T | CA459620421 | RP1L1 | c.330C>A (p.Pro110=) n.580C>A | gnomAD v4 |
8 | g.10622877dup | CA4625753 | RP1L1 | c.330dup (p.Lys111GlnfsTer27) n.580dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622877del | CA580030624 | RP1L1 | c.330del (p.Lys111ArgfsTer?) n.580del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>A | CA4625755 | RP1L1 | c.329C>T (p.Pro110Leu) n.579C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>C | CA4625756 | RP1L1 | c.329C>G (p.Pro110Arg) n.579C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G= | CA1763390091 | RP1L1 | c.329C= (p.Pro110=) n.579C= | |
8 | g.10622873G>T | CA171954806 | RP1L1 | c.329C>A (p.Pro110His) n.579C>A | dbSNP COSMIC |
8 | g.10622874G>A | CA4625757 | RP1L1 | c.328C>T (p.Pro110Ser) n.578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622874G>C | CA370300498 | RP1L1 | c.328C>G (p.Pro110Ala) n.578C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622874G= | CA1763390097 | RP1L1 | c.328C= (p.Pro110=) n.578C= | |
8 | g.10622874G>T | CA370300499 | RP1L1 | c.328C>A (p.Pro110Thr) n.578C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622875G>A | CA4625759 | RP1L1 | c.327C>T (p.Pro109=) n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622875G>C | CA459620425 | RP1L1 | c.327C>G (p.Pro109=) n.577C>G | |
8 | g.10622875G= | CA1763390104 | RP1L1 | c.327C= (p.Pro109=) n.577C= | |
8 | g.10622875G>T | CA459620426 | RP1L1 | c.327C>A (p.Pro109=) n.577C>A | |
8 | g.10622875_10622876insA | CA4625758 | RP1L1 | c.326_327insT (p.Lys111GlnfsTer27) n.576_577insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>A | CA4625760 | RP1L1 | c.326C>T (p.Pro109Leu) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>C | CA370300500 | RP1L1 | c.326C>G (p.Pro109Arg) n.576C>G | |
8 | g.10622876G= | CA1763390108 | RP1L1 | c.326C= (p.Pro109=) n.576C= |