Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36245961_36246193delinsCTA | CA2573144542 | CLTA,GNE | c.547_709+70delinsTAG c.277_439+70delinsTAG c.454_616+70delinsTAG c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA) c.439_601+70delinsTAG | ClinVar dbSNP |
9 | g.36246036C>A | CA373417968 | CLTA,GNE | c.704G>T (p.Trp235Leu) c.434G>T (p.Trp145Leu) c.611G>T (p.Trp204Leu) c.486-17162C>A (n.486-17162C>A) c.596G>T (p.Trp199Leu) | |
9 | g.36246036C= | CA1846375024 | CLTA,GNE | c.704G= (p.Trp235=) c.434G= (p.Trp145=) c.611G= (p.Trp204=) c.486-17162C= (n.486-17162C=) c.596G= (p.Trp199=) | |
9 | g.36246036C>G | CA5056703 | CLTA,GNE | c.704G>C (p.Trp235Ser) c.434G>C (p.Trp145Ser) c.611G>C (p.Trp204Ser) c.486-17162C>G (n.486-17162C>G) c.596G>C (p.Trp199Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246036C>T | CA373417964 | CLTA,GNE | c.704G>A (p.Trp235Ter) c.434G>A (p.Trp145Ter) c.611G>A (p.Trp204Ter) c.486-17162C>T (n.486-17162C>T) c.596G>A (p.Trp199Ter) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246037A>C | CA373417969 | CLTA,GNE | c.703T>G (p.Trp235Gly) c.433T>G (p.Trp145Gly) c.610T>G (p.Trp204Gly) c.486-17161A>C (n.486-17161A>C) c.595T>G (p.Trp199Gly) | |
9 | g.36246037A>G | CA373417970 | CLTA,GNE | c.703T>C (p.Trp235Arg) c.433T>C (p.Trp145Arg) c.610T>C (p.Trp204Arg) c.486-17161A>G (n.486-17161A>G) c.595T>C (p.Trp199Arg) | |
9 | g.36246037A>T | CA373417971 | CLTA,GNE | c.703T>A (p.Trp235Arg) c.433T>A (p.Trp145Arg) c.610T>A (p.Trp204Arg) c.486-17161A>T (n.486-17161A>T) c.595T>A (p.Trp199Arg) | |
9 | g.36246038C>A | CA373417974 | CLTA,GNE | c.702G>T (p.Met234Ile) c.432G>T (p.Met144Ile) c.609G>T (p.Met203Ile) c.486-17160C>A (n.486-17160C>A) c.594G>T (p.Met198Ile) | |
9 | g.36246038C>G | CA373417973 | CLTA,GNE | c.702G>C (p.Met234Ile) c.432G>C (p.Met144Ile) c.609G>C (p.Met203Ile) c.486-17160C>G (n.486-17160C>G) c.594G>C (p.Met198Ile) | |
9 | g.36246038C>T | CA373417972 | CLTA,GNE | c.702G>A (p.Met234Ile) c.432G>A (p.Met144Ile) c.609G>A (p.Met203Ile) c.486-17160C>T (n.486-17160C>T) c.594G>A (p.Met198Ile) | gnomAD v4 |
9 | g.36246039A= | CA1846375029 | CLTA,GNE | c.701T= (p.Met234=) c.431T= (p.Met144=) c.608T= (p.Met203=) c.486-17159A= (n.486-17159A=) c.593T= (p.Met198=) | |
9 | g.36246039A>C | CA373417975 | CLTA,GNE | c.701T>G (p.Met234Arg) c.431T>G (p.Met144Arg) c.608T>G (p.Met203Arg) c.486-17159A>C (n.486-17159A>C) c.593T>G (p.Met198Arg) | |
9 | g.36246039A>G | CA373417976 | CLTA,GNE | c.701T>C (p.Met234Thr) c.431T>C (p.Met144Thr) c.608T>C (p.Met203Thr) c.486-17159A>G (n.486-17159A>G) c.593T>C (p.Met198Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246039A>T | CA5056704 | CLTA,GNE | c.701T>A (p.Met234Lys) c.431T>A (p.Met144Lys) c.608T>A (p.Met203Lys) c.486-17159A>T (n.486-17159A>T) c.593T>A (p.Met198Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246040T>A | CA373417977 | CLTA,GNE | c.700A>T (p.Met234Leu) c.430A>T (p.Met144Leu) c.607A>T (p.Met203Leu) c.486-17158T>A (n.486-17158T>A) c.592A>T (p.Met198Leu) | gnomAD v4 |
9 | g.36246040T>C | CA373417978 | CLTA,GNE | c.700A>G (p.Met234Val) c.430A>G (p.Met144Val) c.607A>G (p.Met203Val) c.486-17158T>C (n.486-17158T>C) c.592A>G (p.Met198Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246040T>G | CA373417979 | CLTA,GNE | c.700A>C (p.Met234Leu) c.430A>C (p.Met144Leu) c.607A>C (p.Met203Leu) c.486-17158T>G (n.486-17158T>G) c.592A>C (p.Met198Leu) | |
9 | g.36246040T= | CA1846375040 | CLTA,GNE | c.700A= (p.Met234=) c.430A= (p.Met144=) c.607A= (p.Met203=) c.486-17158T= (n.486-17158T=) c.592A= (p.Met198=) | |
9 | g.36246041G>A | CA464619586 | CLTA,GNE | c.699C>T (p.Arg233=) c.429C>T (p.Arg143=) c.606C>T (p.Arg202=) c.486-17157G>A (n.486-17157G>A) c.591C>T (p.Arg197=) | |
9 | g.36246041G>C | CA464619589 | CLTA,GNE | c.699C>G (p.Arg233=) c.429C>G (p.Arg143=) c.606C>G (p.Arg202=) c.486-17157G>C (n.486-17157G>C) c.591C>G (p.Arg197=) | |
9 | g.36246041G>T | CA464619584 | CLTA,GNE | c.699C>A (p.Arg233=) c.429C>A (p.Arg143=) c.606C>A (p.Arg202=) c.486-17157G>T (n.486-17157G>T) c.591C>A (p.Arg197=) | |
9 | g.36246042C>A | CA5056705 | CLTA,GNE | c.698G>T (p.Arg233Leu) c.428G>T (p.Arg143Leu) c.605G>T (p.Arg202Leu) c.486-17156C>A (n.486-17156C>A) c.590G>T (p.Arg197Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246042C= | CA1846375049 | CLTA,GNE | c.698G= (p.Arg233=) c.428G= (p.Arg143=) c.605G= (p.Arg202=) c.486-17156C= (n.486-17156C=) c.590G= (p.Arg197=) | |
9 | g.36246042C>G | CA373417980 | CLTA,GNE | c.698G>C (p.Arg233Pro) c.428G>C (p.Arg143Pro) c.605G>C (p.Arg202Pro) c.486-17156C>G (n.486-17156C>G) c.590G>C (p.Arg197Pro) | ClinVar |
9 | g.36246042C>T | CA373417981 | CLTA,GNE | c.698G>A (p.Arg233His) c.428G>A (p.Arg143His) c.605G>A (p.Arg202His) c.486-17156C>T (n.486-17156C>T) c.590G>A (p.Arg197His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246043G>A | CA5056706 | CLTA,GNE | c.697C>T (p.Arg233Cys) c.427C>T (p.Arg143Cys) c.604C>T (p.Arg202Cys) c.486-17155G>A (n.486-17155G>A) c.589C>T (p.Arg197Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246043G>C | CA373417982 | CLTA,GNE | c.697C>G (p.Arg233Gly) c.427C>G (p.Arg143Gly) c.604C>G (p.Arg202Gly) c.486-17155G>C (n.486-17155G>C) c.589C>G (p.Arg197Gly) | |
9 | g.36246043G= | CA1846375060 | CLTA,GNE | c.697C= (p.Arg233=) c.427C= (p.Arg143=) c.604C= (p.Arg202=) c.486-17155G= (n.486-17155G=) c.589C= (p.Arg197=) | |
9 | g.36246043G>T | CA373417983 | CLTA,GNE | c.697C>A (p.Arg233Ser) c.427C>A (p.Arg143Ser) c.604C>A (p.Arg202Ser) c.486-17155G>T (n.486-17155G>T) c.589C>A (p.Arg197Ser) | |
9 | g.36246045_36246048dup | CA10603834 | CLTA,GNE | c.694_697dup (p.Arg233HisfsTer7) c.424_427dup (p.Arg143HisfsTer7) c.601_604dup (p.Arg202HisfsTer7) c.486-17153_486-17150dup (n.486-17153_486-17150dup) c.424_427dup (p.Arg143HisfsTer20) c.586_589dup (p.Arg197HisfsTer7) c.694_697dup (p.Arg233HisfsTer20) c.601_604dup (p.Arg202HisfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246044A>C | CA373417984 | CLTA,GNE | c.696T>G (p.Ile232Met) c.426T>G (p.Ile142Met) c.603T>G (p.Ile201Met) c.486-17154A>C (n.486-17154A>C) c.588T>G (p.Ile196Met) | |
9 | g.36246044A>G | CA464619596 | CLTA,GNE | c.696T>C (p.Ile232=) c.426T>C (p.Ile142=) c.603T>C (p.Ile201=) c.486-17154A>G (n.486-17154A>G) c.588T>C (p.Ile196=) | |
9 | g.36246044A>T | CA464619597 | CLTA,GNE | c.696T>A (p.Ile232=) c.426T>A (p.Ile142=) c.603T>A (p.Ile201=) c.486-17154A>T (n.486-17154A>T) c.588T>A (p.Ile196=) | |
9 | g.36246045A= | CA1846375070 | CLTA,GNE | c.695T= (p.Ile232=) c.425T= (p.Ile142=) c.602T= (p.Ile201=) c.486-17153A= (n.486-17153A=) c.587T= (p.Ile196=) | |
9 | g.36246045A>C | CA373417985 | CLTA,GNE | c.695T>G (p.Ile232Ser) c.425T>G (p.Ile142Ser) c.602T>G (p.Ile201Ser) c.486-17153A>C (n.486-17153A>C) c.587T>G (p.Ile196Ser) | |
9 | g.36246045A>G | CA373417986 | CLTA,GNE | c.695T>C (p.Ile232Thr) c.425T>C (p.Ile142Thr) c.602T>C (p.Ile201Thr) c.486-17153A>G (n.486-17153A>G) c.587T>C (p.Ile196Thr) | |
9 | g.36246045A>T | CA373417987 | CLTA,GNE | c.695T>A (p.Ile232Asn) c.425T>A (p.Ile142Asn) c.602T>A (p.Ile201Asn) c.486-17153A>T (n.486-17153A>T) c.587T>A (p.Ile196Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.36246046T>A | CA373417988 | CLTA,GNE | c.694A>T (p.Ile232Phe) c.424A>T (p.Ile142Phe) c.601A>T (p.Ile201Phe) c.486-17152T>A (n.486-17152T>A) c.586A>T (p.Ile196Phe) | |
9 | g.36246046T>C | CA5056707 | CLTA,GNE | c.694A>G (p.Ile232Val) c.424A>G (p.Ile142Val) c.601A>G (p.Ile201Val) c.486-17152T>C (n.486-17152T>C) c.586A>G (p.Ile196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246046T>G | CA373417989 | CLTA,GNE | c.694A>C (p.Ile232Leu) c.424A>C (p.Ile142Leu) c.601A>C (p.Ile201Leu) c.486-17152T>G (n.486-17152T>G) c.586A>C (p.Ile196Leu) | |
9 | g.36246046T= | CA1846375078 | CLTA,GNE | c.694A= (p.Ile232=) c.424A= (p.Ile142=) c.601A= (p.Ile201=) c.486-17152T= (n.486-17152T=) c.586A= (p.Ile196=) | |
9 | g.36246047G>A | CA202360 | CLTA,GNE | c.693C>T (p.Ile231=) c.423C>T (p.Ile141=) c.600C>T (p.Ile200=) c.486-17151G>A (n.486-17151G>A) c.585C>T (p.Ile195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246047G>C | CA373417990 | CLTA,GNE | c.693C>G (p.Ile231Met) c.423C>G (p.Ile141Met) c.600C>G (p.Ile200Met) c.486-17151G>C (n.486-17151G>C) c.585C>G (p.Ile195Met) | |
9 | g.36246047G= | CA1846375088 | CLTA,GNE | c.693C= (p.Ile231=) c.423C= (p.Ile141=) c.600C= (p.Ile200=) c.486-17151G= (n.486-17151G=) c.585C= (p.Ile195=) | |
9 | g.36246047G>T | CA464619607 | CLTA,GNE | c.693C>A (p.Ile231=) c.423C>A (p.Ile141=) c.600C>A (p.Ile200=) c.486-17151G>T (n.486-17151G>T) c.585C>A (p.Ile195=) | |
9 | g.36246048A>C | CA373417991 | CLTA,GNE | c.692T>G (p.Ile231Ser) c.422T>G (p.Ile141Ser) c.599T>G (p.Ile200Ser) c.486-17150A>C (n.486-17150A>C) c.584T>G (p.Ile195Ser) | |
9 | g.36246048A>G | CA373417993 | CLTA,GNE | c.692T>C (p.Ile231Thr) c.422T>C (p.Ile141Thr) c.599T>C (p.Ile200Thr) c.486-17150A>G (n.486-17150A>G) c.584T>C (p.Ile195Thr) | |
9 | g.36246048A>T | CA373417992 | CLTA,GNE | c.692T>A (p.Ile231Asn) c.422T>A (p.Ile141Asn) c.599T>A (p.Ile200Asn) c.486-17150A>T (n.486-17150A>T) c.584T>A (p.Ile195Asn) | |
9 | g.36246049T>A | CA5056708 | CLTA,GNE | c.691A>T (p.Ile231Phe) c.421A>T (p.Ile141Phe) c.598A>T (p.Ile200Phe) c.486-17149T>A (n.486-17149T>A) c.583A>T (p.Ile195Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |