Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10622794_10622881del | CA2779033574 | RP1L1 | c.329_416del (p.Pro110GlnfsTer18) n.579_666del | |
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= | |
8 | g.10622876G>T | CA4625761 | RP1L1 | c.326C>A (p.Pro109His) n.576C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622876_10622877insA | CA2739290046 | RP1L1 | c.325_326insT (p.Pro109LeufsTer29) n.575_576insT | |
8 | g.10622877G>A | CA4625764 | RP1L1 | c.325C>T (p.Pro109Ser) n.575C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622877G>C | CA370300503 | RP1L1 | c.325C>G (p.Pro109Ala) n.575C>G | dbSNP gnomAD v4 |
8 | g.10622877G= | CA1763390115 | RP1L1 | c.325C= (p.Pro109=) n.575C= | |
8 | g.10622877G>T | CA4625763 | RP1L1 | c.325C>A (p.Pro109Thr) n.575C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622877_10622878insA | CA4625762 | RP1L1 | c.324_325insT (p.Pro109SerfsTer29) n.574_575insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622878C>A | CA370300505 | RP1L1 | c.324G>T (p.Lys108Asn) n.574G>T | |
8 | g.10622878C= | CA1763390126 | RP1L1 | c.324G= (p.Lys108=) n.574G= | |
8 | g.10622878C>G | CA370300507 | RP1L1 | c.324G>C (p.Lys108Asn) n.574G>C | |
8 | g.10622878C>T | CA459620431 | RP1L1 | c.324G>A (p.Lys108=) n.574G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622879T>A | CA370300509 | RP1L1 | c.323A>T (p.Lys108Met) n.573A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622879T>C | CA370300512 | RP1L1 | c.323A>G (p.Lys108Arg) n.573A>G | |
8 | g.10622879T>G | CA370300510 | RP1L1 | c.323A>C (p.Lys108Thr) n.573A>C | dbSNP |
8 | g.10622879T= | CA1763390130 | RP1L1 | c.323A= (p.Lys108=) n.573A= | |
8 | g.10622880T>A | CA370300513 | RP1L1 | c.322A>T (p.Lys108Ter) n.572A>T | |
8 | g.10622880T>C | CA370300514 | RP1L1 | c.322A>G (p.Lys108Glu) n.572A>G | |
8 | g.10622880T>G | CA370300515 | RP1L1 | c.322A>C (p.Lys108Gln) n.572A>C | |
8 | g.10622881C>A | CA370300517 | RP1L1 | c.321G>T (p.Lys107Asn) n.571G>T | COSMIC |
8 | g.10622881C>G | CA370300518 | RP1L1 | c.321G>C (p.Lys107Asn) n.571G>C | ClinVar gnomAD v4 |
8 | g.10622881C>T | CA459620433 | RP1L1 | c.321G>A (p.Lys107=) n.571G>A | gnomAD v4 |
8 | g.10622882T>A | CA370300519 | RP1L1 | c.320A>T (p.Lys107Met) n.570A>T | |
8 | g.10622882T>C | CA370300520 | RP1L1 | c.320A>G (p.Lys107Arg) n.570A>G | |
8 | g.10622882T>G | CA370300521 | RP1L1 | c.320A>C (p.Lys107Thr) n.570A>C | |
8 | g.10622883T>A | CA370300523 | RP1L1 | c.319A>T (p.Lys107Ter) n.569A>T | |
8 | g.10622883T>C | CA370300524 | RP1L1 | c.319A>G (p.Lys107Glu) n.569A>G | |
8 | g.10622883T>G | CA370300525 | RP1L1 | c.319A>C (p.Lys107Gln) n.569A>C | |
8 | g.10622883_10622888delinsTATCAG | CA1763390133 | RP1L1 | c.314_319delinsCTGATA (p.Ser105=) n.564_569delinsCTGATA | |
8 | g.10622884A= | CA1763390137 | RP1L1 | c.318T= (p.Asp106=) n.568T= | |
8 | g.10622884A>C | CA370300526 | RP1L1 | c.318T>G (p.Asp106Glu) n.568T>G | |
8 | g.10622884A>G | CA459620435 | RP1L1 | c.318T>C (p.Asp106=) n.568T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622884A>T | CA370300527 | RP1L1 | c.318T>A (p.Asp106Glu) n.568T>A | COSMIC |
8 | g.10622885_10622889del | CA580030625 | RP1L1 | c.314_318del (p.Ser105Ter) n.564_568del | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622885T>A | CA370300528 | RP1L1 | c.317A>T (p.Asp106Val) n.567A>T | |
8 | g.10622885T>C | CA370300530 | RP1L1 | c.317A>G (p.Asp106Gly) n.567A>G | dbSNP gnomAD v2 |
8 | g.10622885T>G | CA370300529 | RP1L1 | c.317A>C (p.Asp106Ala) n.567A>C | dbSNP |
8 | g.10622885T= | CA1763390141 | RP1L1 | c.317A= (p.Asp106=) n.567A= | |
8 | g.10622886C>A | CA370300532 | RP1L1 | c.316G>T (p.Asp106Tyr) n.566G>T | |
8 | g.10622886C>G | CA370300533 | RP1L1 | c.316G>C (p.Asp106His) n.566G>C | |
8 | g.10622886C>T | CA370300534 | RP1L1 | c.316G>A (p.Asp106Asn) n.566G>A | dbSNP |
8 | g.10622887A>C | CA459620443 | RP1L1 | c.315T>G (p.Ser105=) n.565T>G | |
8 | g.10622887A>G | CA459620446 | RP1L1 | c.315T>C (p.Ser105=) n.565T>C | |
8 | g.10622887A>T | CA459620447 | RP1L1 | c.315T>A (p.Ser105=) n.565T>A | |
8 | g.10622888G>A | CA370300535 | RP1L1 | c.314C>T (p.Ser105Phe) n.564C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622888G>C | CA370300536 | RP1L1 | c.314C>G (p.Ser105Cys) n.564C>G | gnomAD v4 |
8 | g.10622888G= | CA1763390143 | RP1L1 | c.314C= (p.Ser105=) n.564C= | |
8 | g.10622888G>T | CA370300537 | RP1L1 | c.314C>A (p.Ser105Tyr) n.564C>A | |
8 | g.10622889A= | CA1763390145 | RP1L1 | c.313T= (p.Ser105=) n.563T= | |
8 | g.10622889A>C | CA370300538 | RP1L1 | c.313T>G (p.Ser105Ala) n.563T>G | |
8 | g.10622889A>G | CA4625765 | RP1L1 | c.313T>C (p.Ser105Pro) n.563T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622889A>T | CA370300539 | RP1L1 | c.313T>A (p.Ser105Thr) n.563T>A | |
8 | g.10622894_10622902del | CA2686114638 | RP1L1 | c.305_313del (p.Tyr102_Cys104del) n.555_563del | gnomAD v4 |
8 | g.10622890G>A | CA459620449 | RP1L1 | c.312C>T (p.Cys104=) n.562C>T | gnomAD v4 COSMIC |
8 | g.10622890G>C | CA370300540 | RP1L1 | c.312C>G (p.Cys104Trp) n.562C>G | |
8 | g.10622890G>T | CA370300541 | RP1L1 | c.312C>A (p.Cys104Ter) n.562C>A | |
8 | g.10622891C>A | CA370300543 | RP1L1 | c.311G>T (p.Cys104Phe) n.561G>T | |
8 | g.10622891C= | CA1763390148 | RP1L1 | c.311G= (p.Cys104=) n.561G= | |
8 | g.10622891C>G | CA370300542 | RP1L1 | c.311G>C (p.Cys104Ser) n.561G>C | |
8 | g.10622891C>T | CA4625766 | RP1L1 | c.311G>A (p.Cys104Tyr) n.561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622892A>C | CA370300544 | RP1L1 | c.310T>G (p.Cys104Gly) n.560T>G | |
8 | g.10622892A>G | CA370300545 | RP1L1 | c.310T>C (p.Cys104Arg) n.560T>C | |
8 | g.10622892A>T | CA370300546 | RP1L1 | c.310T>A (p.Cys104Ser) n.560T>A | |
8 | g.10622893G>A | CA459620456 | RP1L1 | c.309C>T (p.Leu103=) n.559C>T | gnomAD v4 |
8 | g.10622893G>C | CA4625767 | RP1L1 | c.309C>G (p.Leu103=) n.559C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622893G= | CA1763390153 | RP1L1 | c.309C= (p.Leu103=) n.559C= | |
8 | g.10622893G>T | CA459620457 | RP1L1 | c.309C>A (p.Leu103=) n.559C>A | COSMIC |
8 | g.10622894A= | CA1763390158 | RP1L1 | c.308T= (p.Leu103=) n.558T= | |
8 | g.10622894A>C | CA370300547 | RP1L1 | c.308T>G (p.Leu103Arg) n.558T>G | |
8 | g.10622894A>G | CA4625768 | RP1L1 | c.308T>C (p.Leu103Pro) n.558T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622894A>T | CA370300548 | RP1L1 | c.308T>A (p.Leu103His) n.558T>A | |
8 | g.10622895G>A | CA370300549 | RP1L1 | c.307C>T (p.Leu103Phe) n.557C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622895G>C | CA370300550 | RP1L1 | c.307C>G (p.Leu103Val) n.557C>G | dbSNP |
8 | g.10622895G= | CA1763390162 | RP1L1 | c.307C= (p.Leu103=) n.557C= | |
8 | g.10622895G>T | CA370300551 | RP1L1 | c.307C>A (p.Leu103Ile) n.557C>A | |
8 | g.10622896G>A | CA459620460 | RP1L1 | c.306C>T (p.Tyr102=) n.556C>T | dbSNP gnomAD v4 |
8 | g.10622896G>C | CA370300552 | RP1L1 | c.306C>G (p.Tyr102Ter) n.556C>G | |
8 | g.10622896G= | CA1763390165 | RP1L1 | c.306C= (p.Tyr102=) n.556C= | |
8 | g.10622896G>T | CA370300553 | RP1L1 | c.306C>A (p.Tyr102Ter) n.556C>A | |
8 | g.10622897T>A | CA370300556 | RP1L1 | c.305A>T (p.Tyr102Phe) n.555A>T | |
8 | g.10622897T>C | CA370300558 | RP1L1 | c.305A>G (p.Tyr102Cys) n.555A>G | gnomAD v4 |
8 | g.10622897T>G | CA370300555 | RP1L1 | c.305A>C (p.Tyr102Ser) n.555A>C | |
8 | g.10622898A= | CA1763390168 | RP1L1 | c.304T= (p.Tyr102=) n.554T= | |
8 | g.10622898A>C | CA370300559 | RP1L1 | c.304T>G (p.Tyr102Asp) n.554T>G | |
8 | g.10622898A>G | CA4625769 | RP1L1 | c.304T>C (p.Tyr102His) n.554T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622898A>T | CA370300561 | RP1L1 | c.304T>A (p.Tyr102Asn) n.554T>A | |
8 | g.10622899G>A | CA459620464 | RP1L1 | c.303C>T (p.Cys101=) n.553C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622899G>C | CA4625770 | RP1L1 | c.303C>G (p.Cys101Trp) n.553C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622899G= | CA1763390171 | RP1L1 | c.303C= (p.Cys101=) n.553C= | |
8 | g.10622899G>T | CA370300562 | RP1L1 | c.303C>A (p.Cys101Ter) n.553C>A | |
8 | g.10622899dup | CA2686114657 | RP1L1 | c.303dup (p.Tyr102LeufsTer5) n.553dup | gnomAD v4 |
8 | g.10622899_10622900delinsCA | CA2573142553 | RP1L1 | c.302_303delinsTG (p.Cys101Leu) n.552_553delinsTG | ClinVar dbSNP |
8 | g.10622900C>A | CA4625771 | RP1L1 | c.302G>T (p.Cys101Phe) n.552G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622900C= | CA1763390174 | RP1L1 | c.302G= (p.Cys101=) n.552G= | |
8 | g.10622900C>G | CA370300563 | RP1L1 | c.302G>C (p.Cys101Ser) n.552G>C | |
8 | g.10622900C>T | CA370300564 | RP1L1 | c.302G>A (p.Cys101Tyr) n.552G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622901A= | CA1763390177 | RP1L1 | c.301T= (p.Cys101=) n.551T= | |
8 | g.10622901A>C | CA370300566 | RP1L1 | c.301T>G (p.Cys101Gly) n.551T>G | |
8 | g.10622901A>G | CA370300568 | RP1L1 | c.301T>C (p.Cys101Arg) n.551T>C | |
8 | g.10622901A>T | CA370300569 | RP1L1 | c.301T>A (p.Cys101Ser) n.551T>A | |
8 | g.10622902G>A | CA459620470 | RP1L1 | c.300C>T (p.Gly100=) n.550C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622902G>C | CA4625772 | RP1L1 | c.300C>G (p.Gly100=) n.550C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622902G= | CA1763390182 | RP1L1 | c.300C= (p.Gly100=) n.550C= | |
8 | g.10622902G>T | CA459620471 | RP1L1 | c.300C>A (p.Gly100=) n.550C>A | COSMIC |
8 | g.10622902dup | CA1763390181 | RP1L1 | c.300dup (p.Cys101LeufsTer6) n.550dup | dbSNP gnomAD v4 |
8 | g.10622903C>A | CA4625773 | RP1L1 | c.299G>T (p.Gly100Val) n.549G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622903C= | CA1763390187 | RP1L1 | c.299G= (p.Gly100=) n.549G= | |
8 | g.10622903C>G | CA370300573 | RP1L1 | c.299G>C (p.Gly100Ala) n.549G>C | |
8 | g.10622903C>T | CA370300571 | RP1L1 | c.299G>A (p.Gly100Asp) n.549G>A | |
8 | g.10622904del | CA2686114668 | RP1L1 | c.299del (p.Gly100AlafsTer?) n.549del | gnomAD v4 |
8 | g.10622903_10622910dup | CA1763390186 | RP1L1 | c.292_299dup (p.Cys101MetfsTer?) n.542_549dup | dbSNP gnomAD v4 |
8 | g.10622904C>A | CA370300574 | RP1L1 | c.298G>T (p.Gly100Cys) n.548G>T | |
8 | g.10622904C= | CA1763390189 | RP1L1 | c.298G= (p.Gly100=) n.548G= | |
8 | g.10622904C>G | CA4625774 | RP1L1 | c.298G>C (p.Gly100Arg) n.548G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622904C>T | CA370300577 | RP1L1 | c.298G>A (p.Gly100Ser) n.548G>A | |
8 | g.10622905T>A | CA459620478 | RP1L1 | c.297A>T (p.Gly99=) n.547A>T | |
8 | g.10622905T>C | CA459620479 | RP1L1 | c.297A>G (p.Gly99=) n.547A>G | gnomAD v4 |
8 | g.10622905T>G | CA459620480 | RP1L1 | c.297A>C (p.Gly99=) n.547A>C | |
8 | g.10622906C>A | CA370300578 | RP1L1 | c.296G>T (p.Gly99Val) n.546G>T | |
8 | g.10622906C= | CA1763390195 | RP1L1 | c.296G= (p.Gly99=) n.546G= | |
8 | g.10622906C>G | CA370300580 | RP1L1 | c.296G>C (p.Gly99Ala) n.546G>C | dbSNP gnomAD v4 |
8 | g.10622906C>T | CA370300581 | RP1L1 | c.296G>A (p.Gly99Glu) n.546G>A | dbSNP COSMIC |
8 | g.10622907C>A | CA370300586 | RP1L1 | c.295G>T (p.Gly99Ter) n.545G>T | |
8 | g.10622907C>G | CA370300583 | RP1L1 | c.295G>C (p.Gly99Arg) n.545G>C | |
8 | g.10622907C>T | CA370300584 | RP1L1 | c.295G>A (p.Gly99Arg) n.545G>A | |
8 | g.10622908A>C | CA370300587 | RP1L1 | c.294T>G (p.Asp98Glu) n.544T>G | |
8 | g.10622908A>G | CA459620282 | RP1L1 | c.294T>C (p.Asp98=) n.544T>C | gnomAD v4 |
8 | g.10622908A>T | CA370300588 | RP1L1 | c.294T>A (p.Asp98Glu) n.544T>A | |
8 | g.10622909T>A | CA370300590 | RP1L1 | c.293A>T (p.Asp98Val) n.543A>T | dbSNP gnomAD v2 |
8 | g.10622909T>C | CA4625775 | RP1L1 | c.293A>G (p.Asp98Gly) n.543A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622909T>G | CA370300592 | RP1L1 | c.293A>C (p.Asp98Ala) n.543A>C | gnomAD v4 |
8 | g.10622909T= | CA1763390201 | RP1L1 | c.293A= (p.Asp98=) n.543A= | |
8 | g.10622910C>A | CA370300594 | RP1L1 | c.292G>T (p.Asp98Tyr) n.542G>T | gnomAD v4 |
8 | g.10622910C= | CA1763390207 | RP1L1 | c.292G= (p.Asp98=) n.542G= | |
8 | g.10622910C>G | CA370300595 | RP1L1 | c.292G>C (p.Asp98His) n.542G>C | |
8 | g.10622910C>T | CA4625776 | RP1L1 | c.292G>A (p.Asp98Asn) n.542G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622911T>A | CA370300596 | RP1L1 | c.291A>T (p.Glu97Asp) n.541A>T | |
8 | g.10622911T>C | CA459620286 | RP1L1 | c.291A>G (p.Glu97=) n.541A>G | |
8 | g.10622911T>G | CA370300597 | RP1L1 | c.291A>C (p.Glu97Asp) n.541A>C | |
8 | g.10622912T>A | CA370300599 | RP1L1 | c.290A>T (p.Glu97Val) n.540A>T | |
8 | g.10622912T>C | CA370300602 | RP1L1 | c.290A>G (p.Glu97Gly) n.540A>G | |
8 | g.10622912T>G | CA370300601 | RP1L1 | c.290A>C (p.Glu97Ala) n.540A>C | gnomAD v4 |
8 | g.10622912T= | CA1763390211 | RP1L1 | c.290A= (p.Glu97=) n.540A= | |
8 | g.10622913C>A | CA370300603 | RP1L1 | c.289G>T (p.Glu97Ter) n.539G>T | |
8 | g.10622913C= | CA1763390217 | RP1L1 | c.289G= (p.Glu97=) n.539G= | |
8 | g.10622913C>G | CA4625777 | RP1L1 | c.289G>C (p.Glu97Gln) n.539G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622913C>T | CA370300605 | RP1L1 | c.289G>A (p.Glu97Lys) n.539G>A | |
8 | g.10622914dup | CA1763390215 | RP1L1 | c.289dup (p.Glu97GlyfsTer10) n.539dup | dbSNP |
8 | g.10622914C>A | CA459620287 | RP1L1 | c.288G>T (p.Leu96=) n.538G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622914C= | CA1763390219 | RP1L1 | c.288G= (p.Leu96=) n.538G= | |
8 | g.10622914C>G | CA459620288 | RP1L1 | c.288G>C (p.Leu96=) n.538G>C | |
8 | g.10622914C>T | CA459620289 | RP1L1 | c.288G>A (p.Leu96=) n.538G>A | dbSNP gnomAD v4 |
8 | g.10622915A= | CA1763390222 | RP1L1 | c.287T= (p.Leu96=) n.537T= | |
8 | g.10622915A>C | CA370300606 | RP1L1 | c.287T>G (p.Leu96Arg) n.537T>G | |
8 | g.10622915A>G | CA370300608 | RP1L1 | c.287T>C (p.Leu96Pro) n.537T>C | |
8 | g.10622915A>T | CA4625778 | RP1L1 | c.287T>A (p.Leu96Gln) n.537T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622916G>A | CA459620293 | RP1L1 | c.286C>T (p.Leu96=) n.536C>T | dbSNP |
8 | g.10622916G>C | CA370300611 | RP1L1 | c.286C>G (p.Leu96Val) n.536C>G | |
8 | g.10622916G= | CA1763390225 | RP1L1 | c.286C= (p.Leu96=) n.536C= | |
8 | g.10622916G>T | CA370300612 | RP1L1 | c.286C>A (p.Leu96Met) n.536C>A | |
8 | g.10622917C>A | CA370300613 | RP1L1 | c.285G>T (p.Gln95His) n.535G>T | |
8 | g.10622917C= | CA1763390229 | RP1L1 | c.285G= (p.Gln95=) n.535G= | |
8 | g.10622917C>G | CA370300615 | RP1L1 | c.285G>C (p.Gln95His) n.535G>C | dbSNP |
8 | g.10622917C>T | CA459620294 | RP1L1 | c.285G>A (p.Gln95=) n.535G>A | gnomAD v4 COSMIC |
8 | g.10622918T>A | CA4625779 | RP1L1 | c.284A>T (p.Gln95Leu) n.534A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622918T>C | CA370300617 | RP1L1 | c.284A>G (p.Gln95Arg) n.534A>G | |
8 | g.10622918T>G | CA370300619 | RP1L1 | c.284A>C (p.Gln95Pro) n.534A>C | |
8 | g.10622918T= | CA1763390233 | RP1L1 | c.284A= (p.Gln95=) n.534A= | |
8 | g.10622919G>A | CA370300621 | RP1L1 | c.283C>T (p.Gln95Ter) n.533C>T | ClinVar dbSNP |
8 | g.10622919G>C | CA370300624 | RP1L1 | c.283C>G (p.Gln95Glu) n.533C>G | |
8 | g.10622919G= | CA1763390237 | RP1L1 | c.283C= (p.Gln95=) n.533C= | |
8 | g.10622919G>T | CA370300623 | RP1L1 | c.283C>A (p.Gln95Lys) n.533C>A | gnomAD v4 COSMIC |
8 | g.10622920C>A | CA370300626 | RP1L1 | c.282G>T (p.Glu94Asp) n.532G>T | |
8 | g.10622920C= | CA1763390241 | RP1L1 | c.282G= (p.Glu94=) n.532G= | |
8 | g.10622920C>G | CA370300627 | RP1L1 | c.282G>C (p.Glu94Asp) n.532G>C | |
8 | g.10622920C>T | CA459620296 | RP1L1 | c.282G>A (p.Glu94=) n.532G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622921T>A | CA370300628 | RP1L1 | c.281A>T (p.Glu94Val) n.531A>T | |
8 | g.10622921T>C | CA370300630 | RP1L1 | c.281A>G (p.Glu94Gly) n.531A>G | dbSNP gnomAD v4 |
8 | g.10622921T>G | CA370300631 | RP1L1 | c.281A>C (p.Glu94Ala) n.531A>C | |
8 | g.10622921T= | CA1763390243 | RP1L1 | c.281A= (p.Glu94=) n.531A= | |
8 | g.10622922C>A | CA370300633 | RP1L1 | c.280G>T (p.Glu94Ter) n.530G>T | |
8 | g.10622922C= | CA1763390248 | RP1L1 | c.280G= (p.Glu94=) n.530G= | |
8 | g.10622922C>G | CA171954839 | RP1L1 | c.280G>C (p.Glu94Gln) n.530G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622922C>T | CA370300635 | RP1L1 | c.280G>A (p.Glu94Lys) n.530G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622923C>A | CA459620297 | RP1L1 | c.279G>T (p.Leu93=) n.529G>T | |
8 | g.10622923C>G | CA459620298 | RP1L1 | c.279G>C (p.Leu93=) n.529G>C | |
8 | g.10622923C>T | CA459620299 | RP1L1 | c.279G>A (p.Leu93=) n.529G>A | |
8 | g.10622924A= | CA1763390251 | RP1L1 | c.278T= (p.Leu93=) n.528T= | |
8 | g.10622924A>C | CA370300636 | RP1L1 | c.278T>G (p.Leu93Arg) n.528T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622924A>G | CA370300637 | RP1L1 | c.278T>C (p.Leu93Pro) n.528T>C | |
8 | g.10622924A>T | CA370300638 | RP1L1 | c.278T>A (p.Leu93Gln) n.528T>A | |
8 | g.10622925G>A | CA459620302 | RP1L1 | c.277C>T (p.Leu93=) n.527C>T | dbSNP gnomAD v2 |
8 | g.10622925G>C | CA370300640 | RP1L1 | c.277C>G (p.Leu93Val) n.527C>G | |
8 | g.10622925G= | CA1763390254 | RP1L1 | c.277C= (p.Leu93=) n.527C= | |
8 | g.10622925G>T | CA370300643 | RP1L1 | c.277C>A (p.Leu93Met) n.527C>A | |
8 | g.10622927dup | CA2686114686 | RP1L1 | c.277dup (p.Leu93ProfsTer14) n.527dup | gnomAD v4 |
8 | g.10622926G>A | CA4625780 | RP1L1 | c.276C>T (p.Ala92=) n.526C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622926G>C | CA459620303 | RP1L1 | c.276C>G (p.Ala92=) n.526C>G | |
8 | g.10622926G= | CA1763390256 | RP1L1 | c.276C= (p.Ala92=) n.526C= | |
8 | g.10622926G>T | CA459620304 | RP1L1 | c.276C>A (p.Ala92=) n.526C>A | |
8 | g.10622927G>A | CA10629898 | RP1L1 | c.275C>T (p.Ala92Val) n.525C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622927G>C | CA370300647 | RP1L1 | c.275C>G (p.Ala92Gly) n.525C>G | |
8 | g.10622927G= | CA1763390261 | RP1L1 | c.275C= (p.Ala92=) n.525C= | |
8 | g.10622927G>T | CA370300648 | RP1L1 | c.275C>A (p.Ala92Asp) n.525C>A | dbSNP |
8 | g.10622928C>A | CA370300649 | RP1L1 | c.274G>T (p.Ala92Ser) n.524G>T | ClinVar gnomAD v4 |
8 | g.10622928C= | CA1763390267 | RP1L1 | c.274G= (p.Ala92=) n.524G= | |
8 | g.10622928C>G | CA370300652 | RP1L1 | c.274G>C (p.Ala92Pro) n.524G>C | |
8 | g.10622928C>T | CA4625781 | RP1L1 | c.274G>A (p.Ala92Thr) n.524G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622929G>A | CA4625782 | RP1L1 | c.273C>T (p.Ser91=) n.523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622929G>C | CA370300654 | RP1L1 | c.273C>G (p.Ser91Arg) n.523C>G | |
8 | g.10622929G= | CA1763390270 | RP1L1 | c.273C= (p.Ser91=) n.523C= | |
8 | g.10622929G>T | CA370300655 | RP1L1 | c.273C>A (p.Ser91Arg) n.523C>A | gnomAD v4 |
8 | g.10622930C>A | CA370300657 | RP1L1 | c.272G>T (p.Ser91Ile) n.522G>T | |
8 | g.10622930C= | CA1763390272 | RP1L1 | c.272G= (p.Ser91=) n.522G= | |
8 | g.10622930C>G | CA370300658 | RP1L1 | c.272G>C (p.Ser91Thr) n.522G>C | |
8 | g.10622930C>T | CA171954846 | RP1L1 | c.272G>A (p.Ser91Asn) n.522G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622931T>A | CA370300663 | RP1L1 | c.271A>T (p.Ser91Cys) n.521A>T | |
8 | g.10622931T>C | CA370300661 | RP1L1 | c.271A>G (p.Ser91Gly) n.521A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622931T>G | CA370300662 | RP1L1 | c.271A>C (p.Ser91Arg) n.521A>C | |
8 | g.10622931T= | CA1763390275 | RP1L1 | c.271A= (p.Ser91=) n.521A= | |
8 | g.10622932G>A | CA459620306 | RP1L1 | c.270C>T (p.Leu90=) n.520C>T | gnomAD v4 |
8 | g.10622932G>C | CA459620307 | RP1L1 | c.270C>G (p.Leu90=) n.520C>G | dbSNP |
8 | g.10622932G= | CA1763390277 | RP1L1 | c.270C= (p.Leu90=) n.520C= | |
8 | g.10622932G>T | CA459620309 | RP1L1 | c.270C>A (p.Leu90=) n.520C>A | |
8 | g.10622933A>C | CA370300666 | RP1L1 | c.269T>G (p.Leu90Arg) n.519T>G | |
8 | g.10622933A>G | CA370300667 | RP1L1 | c.269T>C (p.Leu90Pro) n.519T>C | |
8 | g.10622933A>T | CA370300668 | RP1L1 | c.269T>A (p.Leu90His) n.519T>A | |
8 | g.10622934G>A | CA370300669 | RP1L1 | c.268C>T (p.Leu90Phe) n.518C>T | dbSNP gnomAD v4 |
8 | g.10622934G>C | CA370300670 | RP1L1 | c.268C>G (p.Leu90Val) n.518C>G | |
8 | g.10622934G= | CA1763390280 | RP1L1 | c.268C= (p.Leu90=) n.518C= | |
8 | g.10622934G>T | CA370300671 | RP1L1 | c.268C>A (p.Leu90Ile) n.518C>A | |
8 | g.10622935G>A | CA459620312 | RP1L1 | c.267C>T (p.Ser89=) n.517C>T | gnomAD v4 |
8 | g.10622935G>C | CA370300673 | RP1L1 | c.267C>G (p.Ser89Arg) n.517C>G | gnomAD v4 |
8 | g.10622935G>T | CA370300674 | RP1L1 | c.267C>A (p.Ser89Arg) n.517C>A | |
8 | g.10622936C>A | CA370300676 | RP1L1 | c.266G>T (p.Ser89Ile) n.516G>T | |
8 | g.10622936C= | CA1763390284 | RP1L1 | c.266G= (p.Ser89=) n.516G= | |
8 | g.10622936C>G | CA370300678 | RP1L1 | c.266G>C (p.Ser89Thr) n.516G>C | |
8 | g.10622936C>T | CA4625783 | RP1L1 | c.266G>A (p.Ser89Asn) n.516G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622937T>A | CA370300682 | RP1L1 | c.265A>T (p.Ser89Cys) n.515A>T | |
8 | g.10622937T>C | CA4625784 | RP1L1 | c.265A>G (p.Ser89Gly) n.515A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622937T>G | CA370300679 | RP1L1 | c.265A>C (p.Ser89Arg) n.515A>C | |
8 | g.10622937T= | CA1763390289 | RP1L1 | c.265A= (p.Ser89=) n.515A= | |
8 | g.10622938A>C | CA370300684 | RP1L1 | c.264T>G (p.His88Gln) n.514T>G | |
8 | g.10622938A>G | CA459620314 | RP1L1 | c.264T>C (p.His88=) n.514T>C | gnomAD v4 |
8 | g.10622938A>T | CA370300685 | RP1L1 | c.264T>A (p.His88Gln) n.514T>A | |
8 | g.10622939T>A | CA370300686 | RP1L1 | c.263A>T (p.His88Leu) n.513A>T | |
8 | g.10622939T>C | CA171954850 | RP1L1 | c.263A>G (p.His88Arg) n.513A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622939T>G | CA370300688 | RP1L1 | c.263A>C (p.His88Pro) n.513A>C | gnomAD v4 |
8 | g.10622939T= | CA1763390292 | RP1L1 | c.263A= (p.His88=) n.513A= | |
8 | g.10622940G>A | CA4625785 | RP1L1 | c.262C>T (p.His88Tyr) n.512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622940G>C | CA370300692 | RP1L1 | c.262C>G (p.His88Asp) n.512C>G | |
8 | g.10622940G= | CA1763390295 | RP1L1 | c.262C= (p.His88=) n.512C= | |
8 | g.10622940G>T | CA370300693 | RP1L1 | c.262C>A (p.His88Asn) n.512C>A | |
8 | g.10622941C>A | CA459620315 | RP1L1 | c.261G>T (p.Leu87=) n.511G>T | |
8 | g.10622941C>G | CA459620316 | RP1L1 | c.261G>C (p.Leu87=) n.511G>C | |
8 | g.10622941C>T | CA459620317 | RP1L1 | c.261G>A (p.Leu87=) n.511G>A | |
8 | g.10622942A= | CA1763390297 | RP1L1 | c.260T= (p.Leu87=) n.510T= | |
8 | g.10622942A>C | CA370300695 | RP1L1 | c.260T>G (p.Leu87Arg) n.510T>G | |
8 | g.10622942A>G | CA370300698 | RP1L1 | c.260T>C (p.Leu87Pro) n.510T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622942A>T | CA370300697 | RP1L1 | c.260T>A (p.Leu87Gln) n.510T>A | |
8 | g.10622943G>A | CA459620319 | RP1L1 | c.259C>T (p.Leu87=) n.509C>T | gnomAD v4 |
8 | g.10622943G>C | CA171954854 | RP1L1 | c.259C>G (p.Leu87Val) n.509C>G | dbSNP |
8 | g.10622943G= | CA1763390299 | RP1L1 | c.259C= (p.Leu87=) n.509C= | |
8 | g.10622943G>T | CA370300701 | RP1L1 | c.259C>A (p.Leu87Met) n.509C>A | |
8 | g.10622944dup | CA4625786 | RP1L1 | c.259dup (p.Leu87ProfsTer3) n.509dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622944G>A | CA4625787 | RP1L1 | c.258C>T (p.Gly86=) n.508C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622944G>C | CA459620321 | RP1L1 | c.258C>G (p.Gly86=) n.508C>G | |
8 | g.10622944G= | CA1763390303 | RP1L1 | c.258C= (p.Gly86=) n.508C= | |
8 | g.10622944G>T | CA459620320 | RP1L1 | c.258C>A (p.Gly86=) n.508C>A | |
8 | g.10622945_10622949dup | CA2686114712 | RP1L1 | c.254_258dup (p.Leu87GlyfsTer?) n.504_508dup | gnomAD v4 |
8 | g.10622945C>A | CA370300703 | RP1L1 | c.257G>T (p.Gly86Val) n.507G>T | gnomAD v4 |
8 | g.10622945C= | CA1763390309 | RP1L1 | c.257G= (p.Gly86=) n.507G= | |
8 | g.10622945C>G | CA370300706 | RP1L1 | c.257G>C (p.Gly86Ala) n.507G>C | |
8 | g.10622945C>T | CA4625788 | RP1L1 | c.257G>A (p.Gly86Asp) n.507G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622948dup | CA580030543 | RP1L1 | c.257dup (p.Leu87ProfsTer3) n.507dup | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622948del | CA645560802 | RP1L1 | c.257del (p.Gly86AlafsTer?) n.507del | COSMIC |
8 | g.10622946C>A | CA370300707 | RP1L1 | c.256G>T (p.Gly86Cys) n.506G>T | |
8 | g.10622946C= | CA1763390312 | RP1L1 | c.256G= (p.Gly86=) n.506G= | |
8 | g.10622946C>G | CA370300708 | RP1L1 | c.256G>C (p.Gly86Arg) n.506G>C | |
8 | g.10622946C>T | CA4625789 | RP1L1 | c.256G>A (p.Gly86Ser) n.506G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622947C>A | CA459620323 | RP1L1 | c.255G>T (p.Arg85=) n.505G>T | |
8 | g.10622947C= | CA1763390317 | RP1L1 | c.255G= (p.Arg85=) n.505G= | |
8 | g.10622947C>G | CA4625790 | RP1L1 | c.255G>C (p.Arg85=) n.505G>C | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.10622947C>T | CA171954864 | RP1L1 | c.255G>A (p.Arg85=) n.505G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622948C>A | CA370300711 | RP1L1 | c.254G>T (p.Arg85Leu) n.504G>T | |
8 | g.10622948C= | CA1763390323 | RP1L1 | c.254G= (p.Arg85=) n.504G= | |
8 | g.10622948C>G | CA370300712 | RP1L1 | c.254G>C (p.Arg85Pro) n.504G>C | |
8 | g.10622948C>T | CA4625791 | RP1L1 | c.254G>A (p.Arg85Gln) n.504G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622949G>A | CA4625792 | RP1L1 | c.253C>T (p.Arg85Trp) n.503C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622949G>C | CA370300715 | RP1L1 | c.253C>G (p.Arg85Gly) n.503C>G | gnomAD v4 |
8 | g.10622949G= | CA1763390329 | RP1L1 | c.253C= (p.Arg85=) n.503C= | |
8 | g.10622949G>T | CA459620324 | RP1L1 | c.253C>A (p.Arg85=) n.503C>A | |
8 | g.10622949_10622950delinsAA | CA645560803 | RP1L1 | c.252_253delinsTT (p.Arg85Trp) n.502_503delinsTT | COSMIC |
8 | g.10622950G>A | CA459620325 | RP1L1 | c.252C>T (p.Pro84=) n.502C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622950G>C | CA459620326 | RP1L1 | c.252C>G (p.Pro84=) n.502C>G | |
8 | g.10622950G= | CA1763390335 | RP1L1 | c.252C= (p.Pro84=) n.502C= | |
8 | g.10622950G>T | CA459620327 | RP1L1 | c.252C>A (p.Pro84=) n.502C>A | |
8 | g.10622951G>A | CA370300717 | RP1L1 | c.251C>T (p.Pro84Leu) n.501C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622951G>C | CA370300718 | RP1L1 | c.251C>G (p.Pro84Arg) n.501C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622951G= | CA1763390338 | RP1L1 | c.251C= (p.Pro84=) n.501C= | |
8 | g.10622951G>T | CA370300720 | RP1L1 | c.251C>A (p.Pro84His) n.501C>A | |
8 | g.10622952G>A | CA171954873 | RP1L1 | c.250C>T (p.Pro84Ser) n.500C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622952G>C | CA4625793 | RP1L1 | c.250C>G (p.Pro84Ala) n.500C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622952G= | CA1763390343 | RP1L1 | c.250C= (p.Pro84=) n.500C= | |
8 | g.10622952G>T | CA4625794 | RP1L1 | c.250C>A (p.Pro84Thr) n.500C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622952_10622953insA | CA2686114724 | RP1L1 | c.249_250insT (p.Pro84SerfsTer6) n.499_500insT | gnomAD v4 |
8 | g.10622953T>A | CA459620331 | RP1L1 | c.249A>T (p.Thr83=) n.499A>T | |
8 | g.10622953T>C | CA4625795 | RP1L1 | c.249A>G (p.Thr83=) n.499A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622953T>G | CA459620332 | RP1L1 | c.249A>C (p.Thr83=) n.499A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622953T= | CA1763390347 | RP1L1 | c.249A= (p.Thr83=) n.499A= | |
8 | g.10622954G>A | CA370300724 | RP1L1 | c.248C>T (p.Thr83Ile) n.498C>T | gnomAD v4 |
8 | g.10622954G>C | CA370300725 | RP1L1 | c.248C>G (p.Thr83Arg) n.498C>G | |
8 | g.10622954G>T | CA370300726 | RP1L1 | c.248C>A (p.Thr83Lys) n.498C>A | |
8 | g.10622955T>A | CA370300727 | RP1L1 | c.247A>T (p.Thr83Ser) n.497A>T | |
8 | g.10622955T>C | CA370300728 | RP1L1 | c.247A>G (p.Thr83Ala) n.497A>G | gnomAD v4 |
8 | g.10622955T>G | CA370300729 | RP1L1 | c.247A>C (p.Thr83Pro) n.497A>C | |
8 | g.10622955_10622976delinsTGGTGACAGAGCGCACCCCAAA | CA1763390352 | RP1L1 | c.226_247delinsTTTGGGGTGCGCTCTGTCACCA (p.Phe76=) n.476_497delinsTTTGGGGTGCGCTCTGTCACCA | |
8 | g.10622956G>A | CA4625796 | RP1L1 | c.246C>T (p.Thr82=) n.496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622956G>C | CA459620334 | RP1L1 | c.246C>G (p.Thr82=) n.496C>G | |
8 | g.10622956G= | CA1763390356 | RP1L1 | c.246C= (p.Thr82=) n.496C= | |
8 | g.10622956G>T | CA459620335 | RP1L1 | c.246C>A (p.Thr82=) n.496C>A | |
8 | g.10622958_10622978del | CA1763390355 | RP1L1 | c.226_246del (p.Phe76_Thr82del) n.476_496del | dbSNP |
8 | g.10622957G>A | CA4625797 | RP1L1 | c.245C>T (p.Thr82Ile) n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622957G>C | CA370300732 | RP1L1 | c.245C>G (p.Thr82Ser) n.495C>G | ClinVar dbSNP |
8 | g.10622957G= | CA1763390364 | RP1L1 | c.245C= (p.Thr82=) n.495C= | |
8 | g.10622957G>T | CA370300733 | RP1L1 | c.245C>A (p.Thr82Asn) n.495C>A | |
8 | g.10622958T>A | CA370300734 | RP1L1 | c.244A>T (p.Thr82Ser) n.494A>T | |
8 | g.10622958T>C | CA370300735 | RP1L1 | c.244A>G (p.Thr82Ala) n.494A>G | |
8 | g.10622958T>G | CA4625798 | RP1L1 | c.244A>C (p.Thr82Pro) n.494A>C | dbSNP ExAC gnomAD v2 |
8 | g.10622958T= | CA1763390369 | RP1L1 | c.244A= (p.Thr82=) n.494A= | |
8 | g.10622958_10622960delinsTGA | CA1763390367 | RP1L1 | c.242_244delinsTCA (p.Val81=) n.492_494delinsTCA | |
8 | g.10622959G>A | CA459620338 | RP1L1 | c.243C>T (p.Val81=) n.493C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622959G>C | CA459620337 | RP1L1 | c.243C>G (p.Val81=) n.493C>G | |
8 | g.10622959G= | CA1763390374 | RP1L1 | c.243C= (p.Val81=) n.493C= | |
8 | g.10622959G>T | CA459620336 | RP1L1 | c.243C>A (p.Val81=) n.493C>A | |
8 | g.10622959dup | CA2686114725 | RP1L1 | c.243dup (p.Thr82HisfsTer8) n.493dup | gnomAD v4 |
8 | g.10622959_10622960del | CA4625799 | RP1L1 | c.242_243del (p.Val81AspfsTer8) n.492_493del | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622960A= | CA1763390377 | RP1L1 | c.242T= (p.Val81=) n.492T= | |
8 | g.10622960A>C | CA370300738 | RP1L1 | c.242T>G (p.Val81Gly) n.492T>G | |
8 | g.10622960A>G | CA4625800 | RP1L1 | c.242T>C (p.Val81Ala) n.492T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622960A>T | CA370300741 | RP1L1 | c.242T>A (p.Val81Asp) n.492T>A | |
8 | g.10622961C>A | CA370300742 | RP1L1 | c.241G>T (p.Val81Phe) n.491G>T | |
8 | g.10622961C>G | CA370300743 | RP1L1 | c.241G>C (p.Val81Leu) n.491G>C | gnomAD v4 |
8 | g.10622961C>T | CA370300745 | RP1L1 | c.241G>A (p.Val81Ile) n.491G>A | |
8 | g.10622962A= | CA1763390384 | RP1L1 | c.240T= (p.Ser80=) n.490T= | |
8 | g.10622962A>C | CA459620340 | RP1L1 | c.240T>G (p.Ser80=) n.490T>G | |
8 | g.10622962A>G | CA459620341 | RP1L1 | c.240T>C (p.Ser80=) n.490T>C | dbSNP gnomAD v4 |
8 | g.10622962A>T | CA459620342 | RP1L1 | c.240T>A (p.Ser80=) n.490T>A | |
8 | g.10622963G>A | CA370300746 | RP1L1 | c.239C>T (p.Ser80Phe) n.489C>T | |
8 | g.10622963G>C | CA370300747 | RP1L1 | c.239C>G (p.Ser80Cys) n.489C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622963G= | CA1763390386 | RP1L1 | c.239C= (p.Ser80=) n.489C= | |
8 | g.10622963G>T | CA370300748 | RP1L1 | c.239C>A (p.Ser80Tyr) n.489C>A | |
8 | g.10622964A= | CA1763390388 | RP1L1 | c.238T= (p.Ser80=) n.488T= | |
8 | g.10622964A>C | CA370300750 | RP1L1 | c.238T>G (p.Ser80Ala) n.488T>G | |
8 | g.10622964A>G | CA4625801 | RP1L1 | c.238T>C (p.Ser80Pro) n.488T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622964A>T | CA4625802 | RP1L1 | c.238T>A (p.Ser80Thr) n.488T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622965G>A | CA459620345 | RP1L1 | c.237C>T (p.Arg79=) n.487C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622965G>C | CA459620343 | RP1L1 | c.237C>G (p.Arg79=) n.487C>G | |
8 | g.10622965G= | CA1763390392 | RP1L1 | c.237C= (p.Arg79=) n.487C= | |
8 | g.10622965G>T | CA459620344 | RP1L1 | c.237C>A (p.Arg79=) n.487C>A | |
8 | g.10622966C>A | CA370300755 | RP1L1 | c.236G>T (p.Arg79Leu) n.486G>T | gnomAD v4 |
8 | g.10622966C= | CA1763390394 | RP1L1 | c.236G= (p.Arg79=) n.486G= | |
8 | g.10622966C>G | CA370300753 | RP1L1 | c.236G>C (p.Arg79Pro) n.486G>C | |
8 | g.10622966C>T | CA4625803 | RP1L1 | c.236G>A (p.Arg79His) n.486G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622967G>A | CA270131 | RP1L1 | c.235C>T (p.Arg79Cys) n.485C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622967G>C | CA370300761 | RP1L1 | c.235C>G (p.Arg79Gly) n.485C>G | |
8 | g.10622967G= | CA1763390397 | RP1L1 | c.235C= (p.Arg79=) n.485C= | |
8 | g.10622967G>T | CA370300760 | RP1L1 | c.235C>A (p.Arg79Ser) n.485C>A |