Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10612664G>A | CA4625174 | RP1L1 | c.1434C>T (p.Asp478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612664G>C | CA370295518 | RP1L1 | c.1434C>G (p.Asp478Glu) | |
8 | g.10612664G= | CA1763378841 | RP1L1 | c.1434C= (p.Asp478=) | |
8 | g.10612664G>T | CA370295517 | RP1L1 | c.1434C>A (p.Asp478Glu) | gnomAD v4 |
8 | g.10612665T>A | CA370295519 | RP1L1 | c.1433A>T (p.Asp478Val) | gnomAD v4 |
8 | g.10612665T>C | CA370295520 | RP1L1 | c.1433A>G (p.Asp478Gly) | gnomAD v4 |
8 | g.10612665T>G | CA370295521 | RP1L1 | c.1433A>C (p.Asp478Ala) | |
8 | g.10612666C>A | CA370295522 | RP1L1 | c.1432G>T (p.Asp478Tyr) | |
8 | g.10612666C>G | CA370295523 | RP1L1 | c.1432G>C (p.Asp478His) | |
8 | g.10612666C>T | CA370295524 | RP1L1 | c.1432G>A (p.Asp478Asn) | COSMIC |
8 | g.10612667C>A | CA370295525 | RP1L1 | c.1431G>T (p.Glu477Asp) | |
8 | g.10612667C= | CA1763378844 | RP1L1 | c.1431G= (p.Glu477=) | |
8 | g.10612667C>G | CA370295526 | RP1L1 | c.1431G>C (p.Glu477Asp) | |
8 | g.10612667C>T | CA4625175 | RP1L1 | c.1431G>A (p.Glu477=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10612668T>A | CA370295527 | RP1L1 | c.1430A>T (p.Glu477Val) | |
8 | g.10612668T>C | CA4625176 | RP1L1 | c.1430A>G (p.Glu477Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612668T>G | CA370295528 | RP1L1 | c.1430A>C (p.Glu477Ala) | |
8 | g.10612668T= | CA1763378847 | RP1L1 | c.1430A= (p.Glu477=) | |
8 | g.10612669C>A | CA370295531 | RP1L1 | c.1429G>T (p.Glu477Ter) | |
8 | g.10612669C>G | CA370295529 | RP1L1 | c.1429G>C (p.Glu477Gln) | |
8 | g.10612669C>T | CA370295530 | RP1L1 | c.1429G>A (p.Glu477Lys) | gnomAD v4 |
8 | g.10612670C>A | CA459619653 | RP1L1 | c.1428G>T (p.Pro476=) | |
8 | g.10612670C= | CA1763378849 | RP1L1 | c.1428G= (p.Pro476=) | |
8 | g.10612670C>G | CA459619655 | RP1L1 | c.1428G>C (p.Pro476=) | |
8 | g.10612670C>T | CA4625177 | RP1L1 | c.1428G>A (p.Pro476=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612671G>A | CA4625178 | RP1L1 | c.1427C>T (p.Pro476Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10612671G>C | CA370295532 | RP1L1 | c.1427C>G (p.Pro476Arg) | |
8 | g.10612671G= | CA1763378851 | RP1L1 | c.1427C= (p.Pro476=) | |
8 | g.10612671G>T | CA370295533 | RP1L1 | c.1427C>A (p.Pro476Gln) | gnomAD v4 |
8 | g.10612674del | CA2686113712 | RP1L1 | c.1427del (p.Pro476ArgfsTer14) | gnomAD v4 |
8 | g.10612672G>A | CA370295534 | RP1L1 | c.1426C>T (p.Pro476Ser) | gnomAD v4 |
8 | g.10612672G>C | CA370295535 | RP1L1 | c.1426C>G (p.Pro476Ala) | gnomAD v4 |
8 | g.10612672G>T | CA370295536 | RP1L1 | c.1426C>A (p.Pro476Thr) | gnomAD v4 |
8 | g.10612673G>A | CA459619660 | RP1L1 | c.1425C>T (p.Thr475=) | |
8 | g.10612673G>C | CA459619665 | RP1L1 | c.1425C>G (p.Thr475=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612673G= | CA1763378852 | RP1L1 | c.1425C= (p.Thr475=) | |
8 | g.10612673G>T | CA459619663 | RP1L1 | c.1425C>A (p.Thr475=) | dbSNP gnomAD v4 |
8 | g.10612674G>A | CA370295537 | RP1L1 | c.1424C>T (p.Thr475Ile) | gnomAD v4 |
8 | g.10612674G>C | CA370295538 | RP1L1 | c.1424C>G (p.Thr475Ser) | |
8 | g.10612674G>T | CA370295539 | RP1L1 | c.1424C>A (p.Thr475Asn) | gnomAD v4 |
8 | g.10612675T>A | CA4625179 | RP1L1 | c.1423A>T (p.Thr475Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612675T>C | CA370295541 | RP1L1 | c.1423A>G (p.Thr475Ala) | gnomAD v4 |
8 | g.10612675T>G | CA370295540 | RP1L1 | c.1423A>C (p.Thr475Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10612675T= | CA1763378854 | RP1L1 | c.1423A= (p.Thr475=) | |
8 | g.10612676C>A | CA370295542 | RP1L1 | c.1422G>T (p.Arg474Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612676C= | CA1763378855 | RP1L1 | c.1422G= (p.Arg474=) | |
8 | g.10612676C>G | CA370295543 | RP1L1 | c.1422G>C (p.Arg474Ser) | gnomAD v4 |
8 | g.10612676C>T | CA459619671 | RP1L1 | c.1422G>A (p.Arg474=) | |
8 | g.10612677C>A | CA370295544 | RP1L1 | c.1421G>T (p.Arg474Met) | gnomAD v4 |
8 | g.10612677C= | CA1763378856 | RP1L1 | c.1421G= (p.Arg474=) |