Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.68839709G>A | CA413437989 | EFNB1 | c.452G>A (p.Gly151Asp) | |
X | g.68839709G>C | CA413437988 | EFNB1 | c.452G>C (p.Gly151Ala) | |
X | g.68839709G= | CA2435564165 | EFNB1 | c.452G= (p.Gly151=) | |
X | g.68839709G>T | CA121635 | EFNB1 | c.452G>T (p.Gly151Val) | ClinVar dbSNP |
X | g.68839714_68839715dup | CA1139667617 | EFNB1 | c.457_458dup (p.Arg154AlafsTer6) | ClinVar dbSNP |
X | g.68839710T>A | CA516989089 | EFNB1 | c.453T>A (p.Gly151=) | |
X | g.68839710T>C | CA516989090 | EFNB1 | c.453T>C (p.Gly151=) | |
X | g.68839710T>G | CA516989091 | EFNB1 | c.453T>G (p.Gly151=) | |
X | g.68839711G>A | CA413437990 | EFNB1 | c.454G>A (p.Val152Met) | gnomAD v4 |
X | g.68839711G>C | CA413437991 | EFNB1 | c.454G>C (p.Val152Leu) | |
X | g.68839711G>T | CA413437992 | EFNB1 | c.454G>T (p.Val152Leu) | |
X | g.68839712T>A | CA413437993 | EFNB1 | c.455T>A (p.Val152Glu) | |
X | g.68839712T>C | CA413437994 | EFNB1 | c.455T>C (p.Val152Ala) | |
X | g.68839712T>G | CA413437995 | EFNB1 | c.455T>G (p.Val152Gly) | |
X | g.68839713G>A | CA516989092 | EFNB1 | c.456G>A (p.Val152=) | dbSNP |
X | g.68839713G>C | CA516989094 | EFNB1 | c.456G>C (p.Val152=) | |
X | g.68839713G= | CA2435564166 | EFNB1 | c.456G= (p.Val152=) | |
X | g.68839713G>T | CA516989093 | EFNB1 | c.456G>T (p.Val152=) | |
X | g.68839714T>A | CA413437996 | EFNB1 | c.457T>A (p.Cys153Ser) | |
X | g.68839714T>C | CA413437997 | EFNB1 | c.457T>C (p.Cys153Arg) | |
X | g.68839714T>G | CA413437998 | EFNB1 | c.457T>G (p.Cys153Gly) | |
X | g.68839715G>A | CA413437999 | EFNB1 | c.458G>A (p.Cys153Tyr) | ClinVar |
X | g.68839715G>C | CA413438000 | EFNB1 | c.458G>C (p.Cys153Ser) | |
X | g.68839715G>T | CA413438001 | EFNB1 | c.458G>T (p.Cys153Phe) | |
X | g.68839716C>A | CA413438003 | EFNB1 | c.459C>A (p.Cys153Ter) | COSMIC |
X | g.68839716C>G | CA413438002 | EFNB1 | c.459C>G (p.Cys153Trp) | |
X | g.68839716C>T | CA516989095 | EFNB1 | c.459C>T (p.Cys153=) | gnomAD v4 COSMIC |
X | g.68839717C>A | CA413438004 | EFNB1 | c.460C>A (p.Arg154Ser) | |
X | g.68839717C= | CA2435564167 | EFNB1 | c.460C= (p.Arg154=) | |
X | g.68839717C>G | CA413438005 | EFNB1 | c.460C>G (p.Arg154Gly) | |
X | g.68839717C>T | CA413438006 | EFNB1 | c.460C>T (p.Arg154Cys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.68839718G>A | CA10438156 | EFNB1 | c.461G>A (p.Arg154His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68839718G>C | CA413438007 | EFNB1 | c.461G>C (p.Arg154Pro) | ClinVar |
X | g.68839718G= | CA2435564168 | EFNB1 | c.461G= (p.Arg154=) | |
X | g.68839718G>T | CA413438008 | EFNB1 | c.461G>T (p.Arg154Leu) | gnomAD v4 |
X | g.68839719C>A | CA516989096 | EFNB1 | c.462C>A (p.Arg154=) | |
X | g.68839719C>G | CA516989097 | EFNB1 | c.462C>G (p.Arg154=) | |
X | g.68839719C>T | CA516989098 | EFNB1 | c.462C>T (p.Arg154=) | |
X | g.68839720A= | CA2435564169 | EFNB1 | c.463A= (p.Thr155=) | |
X | g.68839720A>C | CA413438010 | EFNB1 | c.463A>C (p.Thr155Pro) | |
X | g.68839720A>G | CA413438009 | EFNB1 | c.463A>G (p.Thr155Ala) | |
X | g.68839720A>T | CA330858047 | EFNB1 | c.463A>T (p.Thr155Ser) | dbSNP gnomAD v4 |
X | g.68839721C>A | CA413438011 | EFNB1 | c.464C>A (p.Thr155Lys) | |
X | g.68839721C>G | CA413438012 | EFNB1 | c.464C>G (p.Thr155Arg) | COSMIC |
X | g.68839721C>T | CA413438013 | EFNB1 | c.464C>T (p.Thr155Ile) | |
X | g.68839722A>C | CA516989101 | EFNB1 | c.465A>C (p.Thr155=) | |
X | g.68839722A>G | CA516989099 | EFNB1 | c.465A>G (p.Thr155=) | |
X | g.68839722A>T | CA516989100 | EFNB1 | c.465A>T (p.Thr155=) | |
X | g.68839723C>A | CA413438014 | EFNB1 | c.466C>A (p.Arg156Ser) | COSMIC |
X | g.68839723C= | CA2435564170 | EFNB1 | c.466C= (p.Arg156=) |