Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10612564del | CA2686113542 | RP1L1 | c.1534del (p.Leu512TrpfsTer10) | gnomAD v4 |
8 | g.10612564G>A | CA459619932 | RP1L1 | c.1534C>T (p.Leu512=) | |
8 | g.10612564G>C | CA4625143 | RP1L1 | c.1534C>G (p.Leu512Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612564G= | CA1763378713 | RP1L1 | c.1534C= (p.Leu512=) | |
8 | g.10612564G>T | CA370295327 | RP1L1 | c.1534C>A (p.Leu512Met) | gnomAD v4 |
8 | g.10612565C>A | CA459619937 | RP1L1 | c.1533G>T (p.Gly511=) | gnomAD v4 |
8 | g.10612565C>G | CA459619936 | RP1L1 | c.1533G>C (p.Gly511=) | |
8 | g.10612565C>T | CA459619935 | RP1L1 | c.1533G>A (p.Gly511=) | gnomAD v4 |
8 | g.10612566C>A | CA370295329 | RP1L1 | c.1532G>T (p.Gly511Val) | |
8 | g.10612566C= | CA1763378715 | RP1L1 | c.1532G= (p.Gly511=) | |
8 | g.10612566C>G | CA370295330 | RP1L1 | c.1532G>C (p.Gly511Ala) | gnomAD v4 |
8 | g.10612566C>T | CA370295328 | RP1L1 | c.1532G>A (p.Gly511Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612567C>A | CA370295331 | RP1L1 | c.1531G>T (p.Gly511Trp) | gnomAD v4 |
8 | g.10612567C>G | CA370295332 | RP1L1 | c.1531G>C (p.Gly511Arg) | |
8 | g.10612567C>T | CA370295333 | RP1L1 | c.1531G>A (p.Gly511Arg) | |
8 | g.10612569_10612571dup | CA1763378716 | RP1L1 | c.1529_1531dup (p.Ala510_Gly511insAla) | dbSNP |
8 | g.10612568T>A | CA459619939 | RP1L1 | c.1530A>T (p.Ala510=) | gnomAD v4 |
8 | g.10612568T>C | CA4625144 | RP1L1 | c.1530A>G (p.Ala510=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612568T>G | CA459619938 | RP1L1 | c.1530A>C (p.Ala510=) | |
8 | g.10612568T= | CA1763378718 | RP1L1 | c.1530A= (p.Ala510=) | |
8 | g.10612569G>A | CA4625145 | RP1L1 | c.1529C>T (p.Ala510Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10612569G>C | CA370295334 | RP1L1 | c.1529C>G (p.Ala510Gly) | |
8 | g.10612569G= | CA1763378720 | RP1L1 | c.1529C= (p.Ala510=) | |
8 | g.10612569G>T | CA370295335 | RP1L1 | c.1529C>A (p.Ala510Glu) | gnomAD v4 |
8 | g.10612570C>A | CA370295336 | RP1L1 | c.1528G>T (p.Ala510Ser) | |
8 | g.10612570C= | CA1763378722 | RP1L1 | c.1528G= (p.Ala510=) | |
8 | g.10612570C>G | CA370295337 | RP1L1 | c.1528G>C (p.Ala510Pro) | gnomAD v4 |
8 | g.10612570C>T | CA370295338 | RP1L1 | c.1528G>A (p.Ala510Thr) | dbSNP gnomAD v4 |
8 | g.10612571T>A | CA459619944 | RP1L1 | c.1527A>T (p.Gly509=) | |
8 | g.10612571T>C | CA459619946 | RP1L1 | c.1527A>G (p.Gly509=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10612571T>G | CA459619945 | RP1L1 | c.1527A>C (p.Gly509=) | |
8 | g.10612571T= | CA1763378724 | RP1L1 | c.1527A= (p.Gly509=) | |
8 | g.10612572C>A | CA370295339 | RP1L1 | c.1526G>T (p.Gly509Val) | gnomAD v4 |
8 | g.10612572C>G | CA370295340 | RP1L1 | c.1526G>C (p.Gly509Ala) | |
8 | g.10612572C>T | CA370295341 | RP1L1 | c.1526G>A (p.Gly509Glu) | |
8 | g.10612573C>A | CA370295343 | RP1L1 | c.1525G>T (p.Gly509Ter) | |
8 | g.10612573C= | CA1763378725 | RP1L1 | c.1525G= (p.Gly509=) | |
8 | g.10612573C>G | CA370295342 | RP1L1 | c.1525G>C (p.Gly509Arg) | |
8 | g.10612573C>T | CA171947668 | RP1L1 | c.1525G>A (p.Gly509Arg) | dbSNP gnomAD v4 |
8 | g.10612574A= | CA1763378727 | RP1L1 | c.1524T= (p.Asp508=) | |
8 | g.10612574A>C | CA370295344 | RP1L1 | c.1524T>G (p.Asp508Glu) | |
8 | g.10612574A>G | CA459619953 | RP1L1 | c.1524T>C (p.Asp508=) | dbSNP gnomAD v4 |
8 | g.10612574A>T | CA370295345 | RP1L1 | c.1524T>A (p.Asp508Glu) | gnomAD v4 |
8 | g.10612575T>A | CA370295346 | RP1L1 | c.1523A>T (p.Asp508Val) | gnomAD v4 |
8 | g.10612575T>C | CA370295347 | RP1L1 | c.1523A>G (p.Asp508Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10612575T>G | CA370295348 | RP1L1 | c.1523A>C (p.Asp508Ala) | |
8 | g.10612575T= | CA1763378729 | RP1L1 | c.1523A= (p.Asp508=) | |
8 | g.10612576C>A | CA370295349 | RP1L1 | c.1522G>T (p.Asp508Tyr) | gnomAD v4 |
8 | g.10612576C>G | CA370295350 | RP1L1 | c.1522G>C (p.Asp508His) | gnomAD v4 |
8 | g.10612576C>T | CA370295351 | RP1L1 | c.1522G>A (p.Asp508Asn) | gnomAD v4 |