Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204160554A= | CA2482057542 | REN | c.492+6T= (n.492+6T=) c.378+6T= (n.378+6T=) | |
1 | g.204160554A>C | CA1011400583 | REN | c.492+6T>G (n.492+6T>G) c.378+6T>G (n.378+6T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204160554A>G | CA730339859 | REN | c.492+6T>C (n.492+6T>C) c.378+6T>C (n.378+6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.204160555C>T | CA2650011359 | REN | c.492+5G>A (n.492+5G>A) c.378+5G>A (n.378+5G>A) | gnomAD v4 |
1 | g.204160556T>C | CA2650011360 | REN | c.492+4A>G (n.492+4A>G) c.378+4A>G (n.378+4A>G) | gnomAD v4 |
1 | g.204160557T>A | CA2581691009 | REN | c.492+3A>T (n.492+3A>T) c.378+3A>T (n.378+3A>T) | |
1 | g.204160557T>C | CA1344927 | REN | c.492+3A>G (n.492+3A>G) c.378+3A>G (n.378+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204160557T>G | CA2581691010 | REN | c.492+3A>C (n.492+3A>C) c.378+3A>C (n.378+3A>C) | |
1 | g.204160557T= | CA1139773018 | REN | c.492+3A= (n.492+3A=) c.378+3A= (n.378+3A=) | |
1 | g.204160558A>C | CA344338997 | REN | c.492+2T>G (n.492+2T>G) c.378+2T>G (n.378+2T>G) | |
1 | g.204160558A>G | CA344339005 | REN | c.492+2T>C (n.492+2T>C) c.378+2T>C (n.378+2T>C) | |
1 | g.204160558A>T | CA344339007 | REN | c.492+2T>A (n.492+2T>A) c.378+2T>A (n.378+2T>A) | |
1 | g.204160559C>A | CA344339011 | REN | c.492+1G>T (n.492+1G>T) c.378+1G>T (n.378+1G>T) | |
1 | g.204160559C= | CA1143958287 | REN | c.492+1G= (n.492+1G=) c.378+1G= (n.378+1G=) | |
1 | g.204160559C>G | CA344339023 | REN | c.492+1G>C (n.492+1G>C) c.378+1G>C (n.378+1G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204160559C>T | CA1344928 | REN | c.492+1G>A (n.492+1G>A) c.378+1G>A (n.378+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204160560G>A | CA1344929 | REN | c.492C>T (p.Thr164=) c.378C>T (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204160560G>C | CA422837904 | REN | c.492C>G (p.Thr164=) c.378C>G (p.Thr126=) | dbSNP gnomAD v4 COSMIC |
1 | g.204160560G= | CA2482057543 | REN | c.492C= (p.Thr164=) c.378C= (p.Thr126=) | |
1 | g.204160560G>T | CA422837905 | REN | c.492C>A (p.Thr164=) c.378C>A (p.Thr126=) | |
1 | g.204160561G>A | CA344339027 | REN | c.491C>T (p.Thr164Ile) c.377C>T (p.Thr126Ile) | |
1 | g.204160561G>C | CA344339031 | REN | c.491C>G (p.Thr164Ser) c.377C>G (p.Thr126Ser) | |
1 | g.204160561G= | CA2482057544 | REN | c.491C= (p.Thr164=) c.377C= (p.Thr126=) | |
1 | g.204160561G>T | CA1344930 | REN | c.491C>A (p.Thr164Asn) c.377C>A (p.Thr126Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204160562T>A | CA344339035 | REN | c.490A>T (p.Thr164Ser) c.376A>T (p.Thr126Ser) | |
1 | g.204160562T>C | CA344339037 | REN | c.490A>G (p.Thr164Ala) c.376A>G (p.Thr126Ala) | |
1 | g.204160562T>G | CA344339039 | REN | c.490A>C (p.Thr164Pro) c.376A>C (p.Thr126Pro) | |
1 | g.204160563G>A | CA422837924 | REN | c.489C>T (p.Ile163=) c.375C>T (p.Ile125=) | |
1 | g.204160563G>C | CA344339044 | REN | c.489C>G (p.Ile163Met) c.375C>G (p.Ile125Met) | |
1 | g.204160563G>T | CA422837921 | REN | c.489C>A (p.Ile163=) c.375C>A (p.Ile125=) | gnomAD v4 |
1 | g.204160564A>C | CA344339048 | REN | c.488T>G (p.Ile163Ser) c.374T>G (p.Ile125Ser) | |
1 | g.204160564A>G | CA344339052 | REN | c.488T>C (p.Ile163Thr) c.374T>C (p.Ile125Thr) | |
1 | g.204160564A>T | CA344339055 | REN | c.488T>A (p.Ile163Asn) c.374T>A (p.Ile125Asn) | |
1 | g.204160565T>A | CA344339058 | REN | c.487A>T (p.Ile163Phe) c.373A>T (p.Ile125Phe) | |
1 | g.204160565T>C | CA344339059 | REN | c.487A>G (p.Ile163Val) c.373A>G (p.Ile125Val) | gnomAD v4 |
1 | g.204160565T>G | CA344339064 | REN | c.487A>C (p.Ile163Leu) c.373A>C (p.Ile125Leu) | |
1 | g.204160566G>A | CA422837947 | REN | c.486C>T (p.Ile162=) c.372C>T (p.Ile124=) | dbSNP gnomAD v4 |
1 | g.204160566G>C | CA344339067 | REN | c.486C>G (p.Ile162Met) c.372C>G (p.Ile124Met) | |
1 | g.204160566G= | CA2482057545 | REN | c.486C= (p.Ile162=) c.372C= (p.Ile124=) | |
1 | g.204160566G>T | CA422837951 | REN | c.486C>A (p.Ile162=) c.372C>A (p.Ile124=) | |
1 | g.204160567A= | CA1149128170 | REN | c.485T= (p.Ile162=) c.371T= (p.Ile124=) | |
1 | g.204160567A>C | CA344339071 | REN | c.485T>G (p.Ile162Ser) c.371T>G (p.Ile124Ser) | |
1 | g.204160567A>G | CA1344931 | REN | c.485T>C (p.Ile162Thr) c.371T>C (p.Ile124Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204160567A>T | CA344339077 | REN | c.485T>A (p.Ile162Asn) c.371T>A (p.Ile124Asn) | |
1 | g.204160568T>A | CA344339079 | REN | c.484A>T (p.Ile162Phe) c.370A>T (p.Ile124Phe) | |
1 | g.204160568T>C | CA344339081 | REN | c.484A>G (p.Ile162Val) c.370A>G (p.Ile124Val) | gnomAD v4 |
1 | g.204160568T>G | CA344339090 | REN | c.484A>C (p.Ile162Leu) c.370A>C (p.Ile124Leu) | |
1 | g.204160569G>A | CA422837968 | REN | c.483C>T (p.Asp161=) c.369C>T (p.Asp123=) | |
1 | g.204160569G>C | CA344339093 | REN | c.483C>G (p.Asp161Glu) c.369C>G (p.Asp123Glu) | |
1 | g.204160569G= | CA2482057546 | REN | c.483C= (p.Asp161=) c.369C= (p.Asp123=) |