Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |