| 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.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 |