Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5226638_5234052del | CA124669 | ClinVar | ||
11 | g.5226914_5234326del | CA124673 | ClinVar | ||
11 | g.5234051A= | CA1949565033 | HBD | c.255T= (p.Thr85=) c.92+291T= (n.92+291T=) | |
11 | g.5234051A>C | CA472885940 | HBD | c.255T>G (p.Thr85=) c.92+291T>G (n.92+291T>G) | COSMIC |
11 | g.5234051A>G | CA472885941 | HBD | c.255T>C (p.Thr85=) c.92+291T>C (n.92+291T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234051A>T | CA472885942 | HBD | c.255T>A (p.Thr85=) c.92+291T>A (n.92+291T>A) | |
11 | g.5234052G>A | CA379276832 | HBD | c.254C>T (p.Thr85Ile) c.92+290C>T (n.92+290C>T) | gnomAD v4 |
11 | g.5234052G>C | CA379276833 | HBD | c.254C>G (p.Thr85Ser) c.92+290C>G (n.92+290C>G) | |
11 | g.5234052G>T | CA379276834 | HBD | c.254C>A (p.Thr85Asn) c.92+290C>A (n.92+290C>A) | |
11 | g.5234053T>A | CA379276836 | HBD | c.253A>T (p.Thr85Ser) c.92+289A>T (n.92+289A>T) | |
11 | g.5234053T>C | CA5839935 | HBD | c.253A>G (p.Thr85Ala) c.92+289A>G (n.92+289A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.5234053T>G | CA379276835 | HBD | c.253A>C (p.Thr85Pro) c.92+289A>C (n.92+289A>C) | |
11 | g.5234053T= | CA1949565037 | HBD | c.253A= (p.Thr85=) c.92+289A= (n.92+289A=) | |
11 | g.5234054G>A | CA472885943 | HBD | c.252C>T (p.Gly84=) c.92+288C>T (n.92+288C>T) | gnomAD v4 |
11 | g.5234054G>C | CA472885944 | HBD | c.252C>G (p.Gly84=) c.92+288C>G (n.92+288C>G) | |
11 | g.5234054G>T | CA472885945 | HBD | c.252C>A (p.Gly84=) c.92+288C>A (n.92+288C>A) | |
11 | g.5234055C>A | CA379276838 | HBD | c.251G>T (p.Gly84Val) c.92+287G>T (n.92+287G>T) | |
11 | g.5234055C= | CA1949565040 | HBD | c.251G= (p.Gly84=) c.92+287G= (n.92+287G=) | |
11 | g.5234055C>G | CA379276837 | HBD | c.251G>C (p.Gly84Ala) c.92+287G>C (n.92+287G>C) | |
11 | g.5234055C>T | CA217123851 | HBD | c.251G>A (p.Gly84Asp) c.92+287G>A (n.92+287G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234056C>A | CA379276839 | HBD | c.250G>T (p.Gly84Cys) c.92+286G>T (n.92+286G>T) | |
11 | g.5234056C= | CA1949565042 | HBD | c.250G= (p.Gly84=) c.92+286G= (n.92+286G=) | |
11 | g.5234056C>G | CA379276840 | HBD | c.250G>C (p.Gly84Arg) c.92+286G>C (n.92+286G>C) | |
11 | g.5234056C>T | CA379276841 | HBD | c.250G>A (p.Gly84Ser) c.92+286G>A (n.92+286G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234057C>A | CA379276842 | HBD | c.249G>T (p.Lys83Asn) c.92+285G>T (n.92+285G>T) | |
11 | g.5234057C= | CA1949565045 | HBD | c.249G= (p.Lys83=) c.92+285G= (n.92+285G=) | |
11 | g.5234057C>G | CA379276843 | HBD | c.249G>C (p.Lys83Asn) c.92+285G>C (n.92+285G>C) | |
11 | g.5234057C>T | CA472885946 | HBD | c.249G>A (p.Lys83=) c.92+285G>A (n.92+285G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234058T>A | CA379276844 | HBD | c.248A>T (p.Lys83Met) c.92+284A>T (n.92+284A>T) | |
11 | g.5234058T>C | CA379276845 | HBD | c.248A>G (p.Lys83Arg) c.92+284A>G (n.92+284A>G) | |
11 | g.5234058T>G | CA379276846 | HBD | c.248A>C (p.Lys83Thr) c.92+284A>C (n.92+284A>C) | |
11 | g.5234059T>A | CA217123856 | HBD | c.247A>T (p.Lys83Ter) c.92+283A>T (n.92+283A>T) | dbSNP |
11 | g.5234059T>C | CA379276847 | HBD | c.247A>G (p.Lys83Glu) c.92+283A>G (n.92+283A>G) | |
11 | g.5234059T>G | CA379276848 | HBD | c.247A>C (p.Lys83Gln) c.92+283A>C (n.92+283A>C) | gnomAD v4 |
11 | g.5234059T= | CA1949565051 | HBD | c.247A= (p.Lys83=) c.92+283A= (n.92+283A=) | |
11 | g.5234060G>A | CA472885947 | HBD | c.246C>T (p.Leu82=) c.92+282C>T (n.92+282C>T) | |
11 | g.5234060G>C | CA472885948 | HBD | c.246C>G (p.Leu82=) c.92+282C>G (n.92+282C>G) | |
11 | g.5234060G>T | CA472885949 | HBD | c.246C>A (p.Leu82=) c.92+282C>A (n.92+282C>A) | |
11 | g.5234061A= | CA1949565054 | HBD | c.245T= (p.Leu82=) c.92+281T= (n.92+281T=) | |
11 | g.5234061A>C | CA379276849 | HBD | c.245T>G (p.Leu82Arg) c.92+281T>G (n.92+281T>G) | |
11 | g.5234061A>G | CA5839936 | HBD | c.245T>C (p.Leu82Pro) c.92+281T>C (n.92+281T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234061A>T | CA379276850 | HBD | c.245T>A (p.Leu82His) c.92+281T>A (n.92+281T>A) | |
11 | g.5234062G>A | CA5839937 | HBD | c.244C>T (p.Leu82Phe) c.92+280C>T (n.92+280C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234062G>C | CA379276851 | HBD | c.244C>G (p.Leu82Val) c.92+280C>G (n.92+280C>G) | |
11 | g.5234062G= | CA1949565058 | HBD | c.244C= (p.Leu82=) c.92+280C= (n.92+280C=) | |
11 | g.5234062G>T | CA379276852 | HBD | c.244C>A (p.Leu82Ile) c.92+280C>A (n.92+280C>A) | |
11 | g.5234063G>A | CA472885950 | HBD | c.243C>T (p.Asn81=) c.92+279C>T (n.92+279C>T) | |
11 | g.5234063G>C | CA379276853 | HBD | c.243C>G (p.Asn81Lys) c.92+279C>G (n.92+279C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234063G= | CA1949565062 | HBD | c.243C= (p.Asn81=) c.92+279C= (n.92+279C=) | |
11 | g.5234063G>T | CA379276854 | HBD | c.243C>A (p.Asn81Lys) c.92+279C>A (n.92+279C>A) |