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.36246027G>A | CA5056700 | CLTA,GNE | c.709+4C>T (n.709+4C>T) c.439+4C>T (n.439+4C>T) c.616+4C>T (n.616+4C>T) c.486-17171G>A (n.486-17171G>A) c.601+4C>T (n.601+4C>T) | ClinVar dbSNP ExAC gnomAD v4 |
9 | g.36246027G= | CA1846374984 | CLTA,GNE | c.709+4C= (n.709+4C=) c.439+4C= (n.439+4C=) c.616+4C= (n.616+4C=) c.486-17171G= (n.486-17171G=) c.601+4C= (n.601+4C=) | |
9 | g.36246027G>T | CA5056699 | CLTA,GNE | c.709+4C>A (n.709+4C>A) c.439+4C>A (n.439+4C>A) c.616+4C>A (n.616+4C>A) c.486-17171G>T (n.486-17171G>T) c.601+4C>A (n.601+4C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246030_36246033del | CA2697557737 | CLTA,GNE | c.709_709+3del c.439_439+3del c.616_616+3del c.486-17168_486-17165del (n.486-17168_486-17165del) c.601_601+3del | ClinVar |
9 | g.36246029A>C | CA373417935 | CLTA,GNE | c.709+2T>G (n.709+2T>G) c.439+2T>G (n.439+2T>G) c.616+2T>G (n.616+2T>G) c.486-17169A>C (n.486-17169A>C) c.601+2T>G (n.601+2T>G) | |
9 | g.36246029A>G | CA373417937 | CLTA,GNE | c.709+2T>C (n.709+2T>C) c.439+2T>C (n.439+2T>C) c.616+2T>C (n.616+2T>C) c.486-17169A>G (n.486-17169A>G) c.601+2T>C (n.601+2T>C) | |
9 | g.36246029A>T | CA373417936 | CLTA,GNE | c.709+2T>A (n.709+2T>A) c.439+2T>A (n.439+2T>A) c.616+2T>A (n.616+2T>A) c.486-17169A>T (n.486-17169A>T) c.601+2T>A (n.601+2T>A) | |
9 | g.36246029_36246030del | CA913157668 | CLTA,GNE | c.709+1_709+2del (n.709+1_709+2del) c.439+1_439+2del (n.439+1_439+2del) c.616+1_616+2del (n.616+1_616+2del) c.486-17169_486-17168del (n.486-17169_486-17168del) c.601+1_601+2del (n.601+1_601+2del) | |
9 | g.36246029_36246030delinsAC | CA1846374990 | CLTA,GNE | c.709+1_709+2delinsGT (n.709+1_709+2delinsGT) c.439+1_439+2delinsGT (n.439+1_439+2delinsGT) c.616+1_616+2delinsGT (n.616+1_616+2delinsGT) c.486-17169_486-17168delinsAC (n.486-17169_486-17168delinsAC) c.601+1_601+2delinsGT (n.601+1_601+2delinsGT) | |
9 | g.36246030C>A | CA373417938 | CLTA,GNE | c.709+1G>T (n.709+1G>T) c.439+1G>T (n.439+1G>T) c.616+1G>T (n.616+1G>T) c.486-17168C>A (n.486-17168C>A) c.601+1G>T (n.601+1G>T) | |
9 | g.36246030C= | CA1846374994 | CLTA,GNE | c.709+1G= (n.709+1G=) c.439+1G= (n.439+1G=) c.616+1G= (n.616+1G=) c.486-17168C= (n.486-17168C=) c.601+1G= (n.601+1G=) | |
9 | g.36246030C>G | CA373417939 | CLTA,GNE | c.709+1G>C (n.709+1G>C) c.439+1G>C (n.439+1G>C) c.616+1G>C (n.616+1G>C) c.486-17168C>G (n.486-17168C>G) c.601+1G>C (n.601+1G>C) | |
9 | g.36246030C>T | CA373417940 | CLTA,GNE | c.709+1G>A (n.709+1G>A) c.439+1G>A (n.439+1G>A) c.616+1G>A (n.616+1G>A) c.486-17168C>T (n.486-17168C>T) c.601+1G>A (n.601+1G>A) | dbSNP |
9 | g.36246031del | CA658822302 | CLTA,GNE | c.709+1del c.439+1del c.616+1del c.486-17167del (n.486-17167del) c.601+1del | ClinVar dbSNP gnomAD v4 |
9 | g.36246031C>A | CA373417941 | CLTA,GNE | c.709G>T (p.Gly237Cys) c.439G>T (p.Gly147Cys) c.616G>T (p.Gly206Cys) c.486-17167C>A (n.486-17167C>A) c.439G>T (p.Gly147Trp) c.601G>T (p.Gly201Cys) c.709G>T (p.Gly237Trp) c.616G>T (p.Gly206Trp) | |
9 | g.36246031C= | CA1846375002 | CLTA,GNE | c.709G= (p.Gly237=) c.439G= (p.Gly147=) c.616G= (p.Gly206=) c.486-17167C= (n.486-17167C=) c.601G= (p.Gly201=) | |
9 | g.36246031C>G | CA373417943 | CLTA,GNE | c.709G>C (p.Gly237Arg) c.439G>C (p.Gly147Arg) c.616G>C (p.Gly206Arg) c.486-17167C>G (n.486-17167C>G) c.601G>C (p.Gly201Arg) | |
9 | g.36246031C>T | CA5056701 | CLTA,GNE | c.709G>A (p.Gly237Ser) c.439G>A (p.Gly147Ser) c.616G>A (p.Gly206Ser) c.486-17167C>T (n.486-17167C>T) c.439G>A (p.Gly147Arg) c.601G>A (p.Gly201Ser) c.709G>A (p.Gly237Arg) c.616G>A (p.Gly206Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246032T>A | CA464619567 | CLTA,GNE | c.708A>T (p.Leu236=) c.438A>T (p.Leu146=) c.615A>T (p.Leu205=) c.486-17166T>A (n.486-17166T>A) c.600A>T (p.Leu200=) | |
9 | g.36246032T>C | CA464619568 | CLTA,GNE | c.708A>G (p.Leu236=) c.438A>G (p.Leu146=) c.615A>G (p.Leu205=) c.486-17166T>C (n.486-17166T>C) c.600A>G (p.Leu200=) | |
9 | g.36246032T>G | CA464619569 | CLTA,GNE | c.708A>C (p.Leu236=) c.438A>C (p.Leu146=) c.615A>C (p.Leu205=) c.486-17166T>G (n.486-17166T>G) c.600A>C (p.Leu200=) | |
9 | g.36246033A>C | CA373417947 | CLTA,GNE | c.707T>G (p.Leu236Arg) c.437T>G (p.Leu146Arg) c.614T>G (p.Leu205Arg) c.486-17165A>C (n.486-17165A>C) c.599T>G (p.Leu200Arg) | |
9 | g.36246033A>G | CA373417949 | CLTA,GNE | c.707T>C (p.Leu236Pro) c.437T>C (p.Leu146Pro) c.614T>C (p.Leu205Pro) c.486-17165A>G (n.486-17165A>G) c.599T>C (p.Leu200Pro) | |
9 | g.36246033A>T | CA373417950 | CLTA,GNE | c.707T>A (p.Leu236Gln) c.437T>A (p.Leu146Gln) c.614T>A (p.Leu205Gln) c.486-17165A>T (n.486-17165A>T) c.599T>A (p.Leu200Gln) | |
9 | g.36246034G>A | CA464619573 | CLTA,GNE | c.706C>T (p.Leu236=) c.436C>T (p.Leu146=) c.613C>T (p.Leu205=) c.486-17164G>A (n.486-17164G>A) c.598C>T (p.Leu200=) | |
9 | g.36246034G>C | CA5056702 | CLTA,GNE | c.706C>G (p.Leu236Val) c.436C>G (p.Leu146Val) c.613C>G (p.Leu205Val) c.486-17164G>C (n.486-17164G>C) c.598C>G (p.Leu200Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246034G= | CA1846375010 | CLTA,GNE | c.706C= (p.Leu236=) c.436C= (p.Leu146=) c.613C= (p.Leu205=) c.486-17164G= (n.486-17164G=) c.598C= (p.Leu200=) | |
9 | g.36246034G>T | CA373417953 | CLTA,GNE | c.706C>A (p.Leu236Ile) c.436C>A (p.Leu146Ile) c.613C>A (p.Leu205Ile) c.486-17164G>T (n.486-17164G>T) c.598C>A (p.Leu200Ile) | gnomAD v4 |
9 | g.36246035C>A | CA373417958 | CLTA,GNE | c.705G>T (p.Trp235Cys) c.435G>T (p.Trp145Cys) c.612G>T (p.Trp204Cys) c.486-17163C>A (n.486-17163C>A) c.597G>T (p.Trp199Cys) | |
9 | g.36246035C= | CA1846375019 | CLTA,GNE | c.705G= (p.Trp235=) c.435G= (p.Trp145=) c.612G= (p.Trp204=) c.486-17163C= (n.486-17163C=) c.597G= (p.Trp199=) | |
9 | g.36246035C>G | CA373417959 | CLTA,GNE | c.705G>C (p.Trp235Cys) c.435G>C (p.Trp145Cys) c.612G>C (p.Trp204Cys) c.486-17163C>G (n.486-17163C>G) c.597G>C (p.Trp199Cys) | |
9 | g.36246035C>T | CA273969 | CLTA,GNE | c.705G>A (p.Trp235Ter) c.435G>A (p.Trp145Ter) c.612G>A (p.Trp204Ter) c.486-17163C>T (n.486-17163C>T) c.597G>A (p.Trp199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
9 | g.36246049T>C | CA373417994 | CLTA,GNE | c.691A>G (p.Ile231Val) c.421A>G (p.Ile141Val) c.598A>G (p.Ile200Val) c.486-17149T>C (n.486-17149T>C) c.583A>G (p.Ile195Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246049T>G | CA373417995 | CLTA,GNE | c.691A>C (p.Ile231Leu) c.421A>C (p.Ile141Leu) c.598A>C (p.Ile200Leu) c.486-17149T>G (n.486-17149T>G) c.583A>C (p.Ile195Leu) | |
9 | g.36246049T= | CA1846375097 | CLTA,GNE | c.691A= (p.Ile231=) c.421A= (p.Ile141=) c.598A= (p.Ile200=) c.486-17149T= (n.486-17149T=) c.583A= (p.Ile195=) | |
9 | g.36246050G>A | CA464619609 | CLTA,GNE | c.690C>T (p.Ser230=) c.420C>T (p.Ser140=) c.597C>T (p.Ser199=) c.486-17148G>A (n.486-17148G>A) c.582C>T (p.Ser194=) | ClinVar gnomAD v4 |
9 | g.36246050G>C | CA373417996 | CLTA,GNE | c.690C>G (p.Ser230Arg) c.420C>G (p.Ser140Arg) c.597C>G (p.Ser199Arg) c.486-17148G>C (n.486-17148G>C) c.582C>G (p.Ser194Arg) | |
9 | g.36246050G= | CA1846375101 | CLTA,GNE | c.690C= (p.Ser230=) c.420C= (p.Ser140=) c.597C= (p.Ser199=) c.486-17148G= (n.486-17148G=) c.582C= (p.Ser194=) | |
9 | g.36246050G>T | CA373417997 | CLTA,GNE | c.690C>A (p.Ser230Arg) c.420C>A (p.Ser140Arg) c.597C>A (p.Ser199Arg) c.486-17148G>T (n.486-17148G>T) c.582C>A (p.Ser194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246051C>A | CA373418000 | CLTA,GNE | c.689G>T (p.Ser230Ile) c.419G>T (p.Ser140Ile) c.596G>T (p.Ser199Ile) c.486-17147C>A (n.486-17147C>A) c.581G>T (p.Ser194Ile) | COSMIC COSMIC COSMIC |
9 | g.36246051C>G | CA373417999 | CLTA,GNE | c.689G>C (p.Ser230Thr) c.419G>C (p.Ser140Thr) c.596G>C (p.Ser199Thr) c.486-17147C>G (n.486-17147C>G) c.581G>C (p.Ser194Thr) | |
9 | g.36246051C>T | CA373417998 | CLTA,GNE | c.689G>A (p.Ser230Asn) c.419G>A (p.Ser140Asn) c.596G>A (p.Ser199Asn) c.486-17147C>T (n.486-17147C>T) c.581G>A (p.Ser194Asn) | |
9 | g.36246052T>A | CA373418001 | CLTA,GNE | c.688A>T (p.Ser230Cys) c.418A>T (p.Ser140Cys) c.595A>T (p.Ser199Cys) c.486-17146T>A (n.486-17146T>A) c.580A>T (p.Ser194Cys) | |
9 | g.36246052T>C | CA373418002 | CLTA,GNE | c.688A>G (p.Ser230Gly) c.418A>G (p.Ser140Gly) c.595A>G (p.Ser199Gly) c.486-17146T>C (n.486-17146T>C) c.580A>G (p.Ser194Gly) | gnomAD v4 |
9 | g.36246052T>G | CA373418003 | CLTA,GNE | c.688A>C (p.Ser230Arg) c.418A>C (p.Ser140Arg) c.595A>C (p.Ser199Arg) c.486-17146T>G (n.486-17146T>G) c.580A>C (p.Ser194Arg) | |
9 | g.36246053C>A | CA373418004 | CLTA,GNE | c.687G>T (p.Met229Ile) c.417G>T (p.Met139Ile) c.594G>T (p.Met198Ile) c.486-17145C>A (n.486-17145C>A) c.579G>T (p.Met193Ile) | |
9 | g.36246053C= | CA1846375105 | CLTA,GNE | c.687G= (p.Met229=) c.417G= (p.Met139=) c.594G= (p.Met198=) c.486-17145C= (n.486-17145C=) c.579G= (p.Met193=) | |
9 | g.36246053C>G | CA373418005 | CLTA,GNE | c.687G>C (p.Met229Ile) c.417G>C (p.Met139Ile) c.594G>C (p.Met198Ile) c.486-17145C>G (n.486-17145C>G) c.579G>C (p.Met193Ile) | |
9 | g.36246053C>T | CA373418006 | CLTA,GNE | c.687G>A (p.Met229Ile) c.417G>A (p.Met139Ile) c.594G>A (p.Met198Ile) c.486-17145C>T (n.486-17145C>T) c.579G>A (p.Met193Ile) | ClinVar dbSNP |
9 | g.36246054A= | CA1846375111 | CLTA,GNE | c.686T= (p.Met229=) c.416T= (p.Met139=) c.593T= (p.Met198=) c.486-17144A= (n.486-17144A=) c.578T= (p.Met193=) | |
9 | g.36246054A>C | CA373418007 | CLTA,GNE | c.686T>G (p.Met229Arg) c.416T>G (p.Met139Arg) c.593T>G (p.Met198Arg) c.486-17144A>C (n.486-17144A>C) c.578T>G (p.Met193Arg) | dbSNP gnomAD v4 |
9 | g.36246054A>G | CA5056709 | CLTA,GNE | c.686T>C (p.Met229Thr) c.416T>C (p.Met139Thr) c.593T>C (p.Met198Thr) c.486-17144A>G (n.486-17144A>G) c.578T>C (p.Met193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246054A>T | CA373418008 | CLTA,GNE | c.686T>A (p.Met229Lys) c.416T>A (p.Met139Lys) c.593T>A (p.Met198Lys) c.486-17144A>T (n.486-17144A>T) c.578T>A (p.Met193Lys) | gnomAD v4 |
9 | g.36246055T>A | CA373418009 | CLTA,GNE | c.685A>T (p.Met229Leu) c.415A>T (p.Met139Leu) c.592A>T (p.Met198Leu) c.486-17143T>A (n.486-17143T>A) c.577A>T (p.Met193Leu) | |
9 | g.36246055T>C | CA373418010 | CLTA,GNE | c.685A>G (p.Met229Val) c.415A>G (p.Met139Val) c.592A>G (p.Met198Val) c.486-17143T>C (n.486-17143T>C) c.577A>G (p.Met193Val) | gnomAD v2 gnomAD v4 |
9 | g.36246055T>G | CA373418011 | CLTA,GNE | c.685A>C (p.Met229Leu) c.415A>C (p.Met139Leu) c.592A>C (p.Met198Leu) c.486-17143T>G (n.486-17143T>G) c.577A>C (p.Met193Leu) | |
9 | g.36246056G>A | CA464619629 | CLTA,GNE | c.684C>T (p.Tyr228=) c.414C>T (p.Tyr138=) c.591C>T (p.Tyr197=) c.486-17142G>A (n.486-17142G>A) c.576C>T (p.Tyr192=) | ClinVar dbSNP |
9 | g.36246056G>C | CA373418012 | CLTA,GNE | c.684C>G (p.Tyr228Ter) c.414C>G (p.Tyr138Ter) c.591C>G (p.Tyr197Ter) c.486-17142G>C (n.486-17142G>C) c.576C>G (p.Tyr192Ter) | |
9 | g.36246056G>T | CA373418013 | CLTA,GNE | c.684C>A (p.Tyr228Ter) c.414C>A (p.Tyr138Ter) c.591C>A (p.Tyr197Ter) c.486-17142G>T (n.486-17142G>T) c.576C>A (p.Tyr192Ter) | |
9 | g.36246057T>A | CA373418014 | CLTA,GNE | c.683A>T (p.Tyr228Phe) c.413A>T (p.Tyr138Phe) c.590A>T (p.Tyr197Phe) c.486-17141T>A (n.486-17141T>A) c.575A>T (p.Tyr192Phe) | |
9 | g.36246057T>C | CA373418015 | CLTA,GNE | c.683A>G (p.Tyr228Cys) c.413A>G (p.Tyr138Cys) c.590A>G (p.Tyr197Cys) c.486-17141T>C (n.486-17141T>C) c.575A>G (p.Tyr192Cys) | gnomAD v4 |
9 | g.36246057T>G | CA373418016 | CLTA,GNE | c.683A>C (p.Tyr228Ser) c.413A>C (p.Tyr138Ser) c.590A>C (p.Tyr197Ser) c.486-17141T>G (n.486-17141T>G) c.575A>C (p.Tyr192Ser) | |
9 | g.36246058A>C | CA373418017 | CLTA,GNE | c.682T>G (p.Tyr228Asp) c.412T>G (p.Tyr138Asp) c.589T>G (p.Tyr197Asp) c.486-17140A>C (n.486-17140A>C) c.574T>G (p.Tyr192Asp) | |
9 | g.36246058A>G | CA373418018 | CLTA,GNE | c.682T>C (p.Tyr228His) c.412T>C (p.Tyr138His) c.589T>C (p.Tyr197His) c.486-17140A>G (n.486-17140A>G) c.574T>C (p.Tyr192His) | |
9 | g.36246058A>T | CA373418019 | CLTA,GNE | c.682T>A (p.Tyr228Asn) c.412T>A (p.Tyr138Asn) c.589T>A (p.Tyr197Asn) c.486-17140A>T (n.486-17140A>T) c.574T>A (p.Tyr192Asn) | |
9 | g.36246059G>A | CA464619634 | CLTA,GNE | c.681C>T (p.Asp227=) c.411C>T (p.Asp137=) c.588C>T (p.Asp196=) c.486-17139G>A (n.486-17139G>A) c.573C>T (p.Asp191=) | ClinVar |
9 | g.36246059G>C | CA373418020 | CLTA,GNE | c.681C>G (p.Asp227Glu) c.411C>G (p.Asp137Glu) c.588C>G (p.Asp196Glu) c.486-17139G>C (n.486-17139G>C) c.573C>G (p.Asp191Glu) | |
9 | g.36246059G>T | CA373418021 | CLTA,GNE | c.681C>A (p.Asp227Glu) c.411C>A (p.Asp137Glu) c.588C>A (p.Asp196Glu) c.486-17139G>T (n.486-17139G>T) c.573C>A (p.Asp191Glu) | |
9 | g.36246059dup | CA2689947822 | CLTA,GNE | c.681dup (p.Tyr228LeufsTer11) c.411dup (p.Tyr138LeufsTer11) c.588dup (p.Tyr197LeufsTer11) c.486-17139dup (n.486-17139dup) c.411dup (p.Tyr138LeufsTer24) c.573dup (p.Tyr192LeufsTer11) c.681dup (p.Tyr228LeufsTer24) c.588dup (p.Tyr197LeufsTer24) | gnomAD v4 |
9 | g.36246060T>A | CA373418022 | CLTA,GNE | c.680A>T (p.Asp227Val) c.410A>T (p.Asp137Val) c.587A>T (p.Asp196Val) c.486-17138T>A (n.486-17138T>A) c.572A>T (p.Asp191Val) | |
9 | g.36246060T>C | CA373418024 | CLTA,GNE | c.680A>G (p.Asp227Gly) c.410A>G (p.Asp137Gly) c.587A>G (p.Asp196Gly) c.486-17138T>C (n.486-17138T>C) c.572A>G (p.Asp191Gly) | |
9 | g.36246060T>G | CA373418023 | CLTA,GNE | c.680A>C (p.Asp227Ala) c.410A>C (p.Asp137Ala) c.587A>C (p.Asp196Ala) c.486-17138T>G (n.486-17138T>G) c.572A>C (p.Asp191Ala) | |
9 | g.36246061C>A | CA373418025 | CLTA,GNE | c.679G>T (p.Asp227Tyr) c.409G>T (p.Asp137Tyr) c.586G>T (p.Asp196Tyr) c.486-17137C>A (n.486-17137C>A) c.571G>T (p.Asp191Tyr) | |
9 | g.36246061C>G | CA373418026 | CLTA,GNE | c.679G>C (p.Asp227His) c.409G>C (p.Asp137His) c.586G>C (p.Asp196His) c.486-17137C>G (n.486-17137C>G) c.571G>C (p.Asp191His) | ClinVar dbSNP |
9 | g.36246061C>T | CA373418027 | CLTA,GNE | c.679G>A (p.Asp227Asn) c.409G>A (p.Asp137Asn) c.586G>A (p.Asp196Asn) c.486-17137C>T (n.486-17137C>T) c.571G>A (p.Asp191Asn) | |
9 | g.36246062T>A | CA373418028 | CLTA,GNE | c.678A>T (p.Lys226Asn) c.408A>T (p.Lys136Asn) c.585A>T (p.Lys195Asn) c.486-17136T>A (n.486-17136T>A) c.570A>T (p.Lys190Asn) | |
9 | g.36246062T>C | CA464619643 | CLTA,GNE | c.678A>G (p.Lys226=) c.408A>G (p.Lys136=) c.585A>G (p.Lys195=) c.486-17136T>C (n.486-17136T>C) c.570A>G (p.Lys190=) | |
9 | g.36246062T>G | CA373418029 | CLTA,GNE | c.678A>C (p.Lys226Asn) c.408A>C (p.Lys136Asn) c.585A>C (p.Lys195Asn) c.486-17136T>G (n.486-17136T>G) c.570A>C (p.Lys190Asn) | |
9 | g.36246063T>A | CA373418030 | CLTA,GNE | c.677A>T (p.Lys226Ile) c.407A>T (p.Lys136Ile) c.584A>T (p.Lys195Ile) c.486-17135T>A (n.486-17135T>A) c.569A>T (p.Lys190Ile) | |
9 | g.36246063T>C | CA373418031 | CLTA,GNE | c.677A>G (p.Lys226Arg) c.407A>G (p.Lys136Arg) c.584A>G (p.Lys195Arg) c.486-17135T>C (n.486-17135T>C) c.569A>G (p.Lys190Arg) | |
9 | g.36246063T>G | CA373418032 | CLTA,GNE | c.677A>C (p.Lys226Thr) c.407A>C (p.Lys136Thr) c.584A>C (p.Lys195Thr) c.486-17135T>G (n.486-17135T>G) c.569A>C (p.Lys190Thr) | |
9 | g.36246064T>A | CA373418033 | CLTA,GNE | c.676A>T (p.Lys226Ter) c.406A>T (p.Lys136Ter) c.583A>T (p.Lys195Ter) c.486-17134T>A (n.486-17134T>A) c.568A>T (p.Lys190Ter) | |
9 | g.36246064T>C | CA373418034 | CLTA,GNE | c.676A>G (p.Lys226Glu) c.406A>G (p.Lys136Glu) c.583A>G (p.Lys195Glu) c.486-17134T>C (n.486-17134T>C) c.568A>G (p.Lys190Glu) | dbSNP |
9 | g.36246064T>G | CA373418035 | CLTA,GNE | c.676A>C (p.Lys226Gln) c.406A>C (p.Lys136Gln) c.583A>C (p.Lys195Gln) c.486-17134T>G (n.486-17134T>G) c.568A>C (p.Lys190Gln) | |
9 | g.36246064T= | CA1846375117 | CLTA,GNE | c.676A= (p.Lys226=) c.406A= (p.Lys136=) c.583A= (p.Lys195=) c.486-17134T= (n.486-17134T=) c.568A= (p.Lys190=) | |
9 | g.36246065G>A | CA5056710 | CLTA,GNE | c.675C>T (p.Asn225=) c.405C>T (p.Asn135=) c.582C>T (p.Asn194=) c.486-17133G>A (n.486-17133G>A) c.567C>T (p.Asn189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246065G>C | CA373418038 | CLTA,GNE | c.675C>G (p.Asn225Lys) c.405C>G (p.Asn135Lys) c.582C>G (p.Asn194Lys) c.486-17133G>C (n.486-17133G>C) c.567C>G (p.Asn189Lys) | |
9 | g.36246065G= | CA1846375124 | CLTA,GNE | c.675C= (p.Asn225=) c.405C= (p.Asn135=) c.582C= (p.Asn194=) c.486-17133G= (n.486-17133G=) c.567C= (p.Asn189=) | |
9 | g.36246065G>T | CA373418040 | CLTA,GNE | c.675C>A (p.Asn225Lys) c.405C>A (p.Asn135Lys) c.582C>A (p.Asn194Lys) c.486-17133G>T (n.486-17133G>T) c.567C>A (p.Asn189Lys) | |
9 | g.36246066T>A | CA373418043 | CLTA,GNE | c.674A>T (p.Asn225Ile) c.404A>T (p.Asn135Ile) c.581A>T (p.Asn194Ile) c.486-17132T>A (n.486-17132T>A) c.566A>T (p.Asn189Ile) | |
9 | g.36246066T>C | CA373418045 | CLTA,GNE | c.674A>G (p.Asn225Ser) c.404A>G (p.Asn135Ser) c.581A>G (p.Asn194Ser) c.486-17132T>C (n.486-17132T>C) c.566A>G (p.Asn189Ser) | |
9 | g.36246066T>G | CA373418046 | CLTA,GNE | c.674A>C (p.Asn225Thr) c.404A>C (p.Asn135Thr) c.581A>C (p.Asn194Thr) c.486-17132T>G (n.486-17132T>G) c.566A>C (p.Asn189Thr) | dbSNP |
9 | g.36246066T= | CA1846375129 | CLTA,GNE | c.674A= (p.Asn225=) c.404A= (p.Asn135=) c.581A= (p.Asn194=) c.486-17132T= (n.486-17132T=) c.566A= (p.Asn189=) | |
9 | g.36246067del | CA2695210604 | CLTA,GNE | c.674del (p.Asn225ThrfsTer5) c.404del (p.Asn135ThrfsTer5) c.581del (p.Asn194ThrfsTer5) c.486-17131del (n.486-17131del) c.566del (p.Asn189ThrfsTer5) | |
9 | g.36246067T>A | CA373418049 | CLTA,GNE | c.673A>T (p.Asn225Tyr) c.403A>T (p.Asn135Tyr) c.580A>T (p.Asn194Tyr) c.486-17131T>A (n.486-17131T>A) c.565A>T (p.Asn189Tyr) | |
9 | g.36246067T>C | CA373418051 | CLTA,GNE | c.673A>G (p.Asn225Asp) c.403A>G (p.Asn135Asp) c.580A>G (p.Asn194Asp) c.486-17131T>C (n.486-17131T>C) c.565A>G (p.Asn189Asp) | |
9 | g.36246067T>G | CA373418053 | CLTA,GNE | c.673A>C (p.Asn225His) c.403A>C (p.Asn135His) c.580A>C (p.Asn194His) c.486-17131T>G (n.486-17131T>G) c.565A>C (p.Asn189His) | |
9 | g.36246068C>A | CA373418055 | CLTA,GNE | c.672G>T (p.Lys224Asn) c.402G>T (p.Lys134Asn) c.579G>T (p.Lys193Asn) c.486-17130C>A (n.486-17130C>A) c.564G>T (p.Lys188Asn) | |
9 | g.36246068C>G | CA373418056 | CLTA,GNE | c.672G>C (p.Lys224Asn) c.402G>C (p.Lys134Asn) c.579G>C (p.Lys193Asn) c.486-17130C>G (n.486-17130C>G) c.564G>C (p.Lys188Asn) | |
9 | g.36246068C>T | CA464619657 | CLTA,GNE | c.672G>A (p.Lys224=) c.402G>A (p.Lys134=) c.579G>A (p.Lys193=) c.486-17130C>T (n.486-17130C>T) c.564G>A (p.Lys188=) | |
9 | g.36246069T>A | CA373418059 | CLTA,GNE | c.671A>T (p.Lys224Met) c.401A>T (p.Lys134Met) c.578A>T (p.Lys193Met) c.486-17129T>A (n.486-17129T>A) c.563A>T (p.Lys188Met) | |
9 | g.36246069T>C | CA373418061 | CLTA,GNE | c.671A>G (p.Lys224Arg) c.401A>G (p.Lys134Arg) c.578A>G (p.Lys193Arg) c.486-17129T>C (n.486-17129T>C) c.563A>G (p.Lys188Arg) | |
9 | g.36246069T>G | CA373418063 | CLTA,GNE | c.671A>C (p.Lys224Thr) c.401A>C (p.Lys134Thr) c.578A>C (p.Lys193Thr) c.486-17129T>G (n.486-17129T>G) c.563A>C (p.Lys188Thr) | |
9 | g.36246070T>A | CA373418067 | CLTA,GNE | c.670A>T (p.Lys224Ter) c.400A>T (p.Lys134Ter) c.577A>T (p.Lys193Ter) c.486-17128T>A (n.486-17128T>A) c.562A>T (p.Lys188Ter) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246070T>C | CA373418069 | CLTA,GNE | c.670A>G (p.Lys224Glu) c.400A>G (p.Lys134Glu) c.577A>G (p.Lys193Glu) c.486-17128T>C (n.486-17128T>C) c.562A>G (p.Lys188Glu) | |
9 | g.36246070T>G | CA373418065 | CLTA,GNE | c.670A>C (p.Lys224Gln) c.400A>C (p.Lys134Gln) c.577A>C (p.Lys193Gln) c.486-17128T>G (n.486-17128T>G) c.562A>C (p.Lys188Gln) | |
9 | g.36246070T= | CA1846375135 | CLTA,GNE | c.670A= (p.Lys224=) c.400A= (p.Lys134=) c.577A= (p.Lys193=) c.486-17128T= (n.486-17128T=) c.562A= (p.Lys188=) | |
9 | g.36246071G>A | CA464619661 | CLTA,GNE | c.669C>T (p.Ala223=) c.399C>T (p.Ala133=) c.576C>T (p.Ala192=) c.486-17127G>A (n.486-17127G>A) c.561C>T (p.Ala187=) | |
9 | g.36246071G>C | CA464619663 | CLTA,GNE | c.669C>G (p.Ala223=) c.399C>G (p.Ala133=) c.576C>G (p.Ala192=) c.486-17127G>C (n.486-17127G>C) c.561C>G (p.Ala187=) | |
9 | g.36246071G>T | CA464619664 | CLTA,GNE | c.669C>A (p.Ala223=) c.399C>A (p.Ala133=) c.576C>A (p.Ala192=) c.486-17127G>T (n.486-17127G>T) c.561C>A (p.Ala187=) | |
9 | g.36246072G>A | CA373418071 | CLTA,GNE | c.668C>T (p.Ala223Val) c.398C>T (p.Ala133Val) c.575C>T (p.Ala192Val) c.486-17126G>A (n.486-17126G>A) c.560C>T (p.Ala187Val) | dbSNP gnomAD v4 |
9 | g.36246072G>C | CA373418073 | CLTA,GNE | c.668C>G (p.Ala223Gly) c.398C>G (p.Ala133Gly) c.575C>G (p.Ala192Gly) c.486-17126G>C (n.486-17126G>C) c.560C>G (p.Ala187Gly) | |
9 | g.36246072G= | CA1846375142 | CLTA,GNE | c.668C= (p.Ala223=) c.398C= (p.Ala133=) c.575C= (p.Ala192=) c.486-17126G= (n.486-17126G=) c.560C= (p.Ala187=) | |
9 | g.36246072G>T | CA373418075 | CLTA,GNE | c.668C>A (p.Ala223Asp) c.398C>A (p.Ala133Asp) c.575C>A (p.Ala192Asp) c.486-17126G>T (n.486-17126G>T) c.560C>A (p.Ala187Asp) | |
9 | g.36246073C>A | CA373418078 | CLTA,GNE | c.667G>T (p.Ala223Ser) c.397G>T (p.Ala133Ser) c.574G>T (p.Ala192Ser) c.486-17125C>A (n.486-17125C>A) c.559G>T (p.Ala187Ser) | |
9 | g.36246073C= | CA1846375145 | CLTA,GNE | c.667G= (p.Ala223=) c.397G= (p.Ala133=) c.574G= (p.Ala192=) c.486-17125C= (n.486-17125C=) c.559G= (p.Ala187=) | |
9 | g.36246073C>G | CA373418079 | CLTA,GNE | c.667G>C (p.Ala223Pro) c.397G>C (p.Ala133Pro) c.574G>C (p.Ala192Pro) c.486-17125C>G (n.486-17125C>G) c.559G>C (p.Ala187Pro) | |
9 | g.36246073C>T | CA373418081 | CLTA,GNE | c.667G>A (p.Ala223Thr) c.397G>A (p.Ala133Thr) c.574G>A (p.Ala192Thr) c.486-17125C>T (n.486-17125C>T) c.559G>A (p.Ala187Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |
9 | g.36246074T>A | CA464619668 | CLTA,GNE | c.666A>T (p.Ser222=) c.396A>T (p.Ser132=) c.573A>T (p.Ser191=) c.486-17124T>A (n.486-17124T>A) c.558A>T (p.Ser186=) | |
9 | g.36246074T>C | CA464619669 | CLTA,GNE | c.666A>G (p.Ser222=) c.396A>G (p.Ser132=) c.573A>G (p.Ser191=) c.486-17124T>C (n.486-17124T>C) c.558A>G (p.Ser186=) | |
9 | g.36246074T>G | CA464619670 | CLTA,GNE | c.666A>C (p.Ser222=) c.396A>C (p.Ser132=) c.573A>C (p.Ser191=) c.486-17124T>G (n.486-17124T>G) c.558A>C (p.Ser186=) | |
9 | g.36246075G>A | CA373418084 | CLTA,GNE | c.665C>T (p.Ser222Leu) c.395C>T (p.Ser132Leu) c.572C>T (p.Ser191Leu) c.486-17123G>A (n.486-17123G>A) c.557C>T (p.Ser186Leu) | gnomAD v4 |
9 | g.36246075G>C | CA373418085 | CLTA,GNE | c.665C>G (p.Ser222Ter) c.395C>G (p.Ser132Ter) c.572C>G (p.Ser191Ter) c.486-17123G>C (n.486-17123G>C) c.557C>G (p.Ser186Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246075G= | CA1846375151 | CLTA,GNE | c.665C= (p.Ser222=) c.395C= (p.Ser132=) c.572C= (p.Ser191=) c.486-17123G= (n.486-17123G=) c.557C= (p.Ser186=) | |
9 | g.36246075G>T | CA373418087 | CLTA,GNE | c.665C>A (p.Ser222Ter) c.395C>A (p.Ser132Ter) c.572C>A (p.Ser191Ter) c.486-17123G>T (n.486-17123G>T) c.557C>A (p.Ser186Ter) | |
9 | g.36246079_36246080del | CA2831039508 | CLTA,GNE | c.664_665del (p.Ala223GlnfsTer15) c.394_395del (p.Ala133GlnfsTer15) c.571_572del (p.Ala192GlnfsTer15) c.486-17119_486-17118del (n.486-17119_486-17118del) c.394_395del (p.Ala133GlnfsTer28) c.556_557del (p.Ala187GlnfsTer15) c.664_665del (p.Ala223GlnfsTer28) c.571_572del (p.Ala192GlnfsTer28) | |
9 | g.36246076A>C | CA373418090 | CLTA,GNE | c.664T>G (p.Ser222Ala) c.394T>G (p.Ser132Ala) c.571T>G (p.Ser191Ala) c.486-17122A>C (n.486-17122A>C) c.556T>G (p.Ser186Ala) | |
9 | g.36246076A>G | CA373418091 | CLTA,GNE | c.664T>C (p.Ser222Pro) c.394T>C (p.Ser132Pro) c.571T>C (p.Ser191Pro) c.486-17122A>G (n.486-17122A>G) c.556T>C (p.Ser186Pro) | gnomAD v4 |
9 | g.36246076A>T | CA373418093 | CLTA,GNE | c.664T>A (p.Ser222Thr) c.394T>A (p.Ser132Thr) c.571T>A (p.Ser191Thr) c.486-17122A>T (n.486-17122A>T) c.556T>A (p.Ser186Thr) | |
9 | g.36246077G>A | CA464619673 | CLTA,GNE | c.663C>T (p.Leu221=) c.393C>T (p.Leu131=) c.570C>T (p.Leu190=) c.486-17121G>A (n.486-17121G>A) c.555C>T (p.Leu185=) | |
9 | g.36246077G>C | CA464619674 | CLTA,GNE | c.663C>G (p.Leu221=) c.393C>G (p.Leu131=) c.570C>G (p.Leu190=) c.486-17121G>C (n.486-17121G>C) c.555C>G (p.Leu185=) | gnomAD v4 |
9 | g.36246077G>T | CA464619676 | CLTA,GNE | c.663C>A (p.Leu221=) c.393C>A (p.Leu131=) c.570C>A (p.Leu190=) c.486-17121G>T (n.486-17121G>T) c.555C>A (p.Leu185=) | |
9 | g.36246078A>C | CA373418097 | CLTA,GNE | c.662T>G (p.Leu221Arg) c.392T>G (p.Leu131Arg) c.569T>G (p.Leu190Arg) c.486-17120A>C (n.486-17120A>C) c.554T>G (p.Leu185Arg) | |
9 | g.36246078A>G | CA373418100 | CLTA,GNE | c.662T>C (p.Leu221Pro) c.392T>C (p.Leu131Pro) c.569T>C (p.Leu190Pro) c.486-17120A>G (n.486-17120A>G) c.554T>C (p.Leu185Pro) | |
9 | g.36246078A>T | CA373418096 | CLTA,GNE | c.662T>A (p.Leu221His) c.392T>A (p.Leu131His) c.569T>A (p.Leu190His) c.486-17120A>T (n.486-17120A>T) c.554T>A (p.Leu185His) | |
9 | g.36246079G>A | CA10604401 | CLTA,GNE | c.661C>T (p.Leu221Phe) c.391C>T (p.Leu131Phe) c.568C>T (p.Leu190Phe) c.486-17119G>A (n.486-17119G>A) c.553C>T (p.Leu185Phe) | ClinVar dbSNP |
9 | g.36246079G>C | CA373418103 | CLTA,GNE | c.661C>G (p.Leu221Val) c.391C>G (p.Leu131Val) c.568C>G (p.Leu190Val) c.486-17119G>C (n.486-17119G>C) c.553C>G (p.Leu185Val) | |
9 | g.36246079G= | CA1846375174 | CLTA,GNE | c.661C= (p.Leu221=) c.391C= (p.Leu131=) c.568C= (p.Leu190=) c.486-17119G= (n.486-17119G=) c.553C= (p.Leu185=) | |
9 | g.36246079G>T | CA373418105 | CLTA,GNE | c.661C>A (p.Leu221Ile) c.391C>A (p.Leu131Ile) c.568C>A (p.Leu190Ile) c.486-17119G>T (n.486-17119G>T) c.553C>A (p.Leu185Ile) | |
9 | g.36246080A>C | CA464619683 | CLTA,GNE | c.660T>G (p.Leu220=) c.390T>G (p.Leu130=) c.567T>G (p.Leu189=) c.486-17118A>C (n.486-17118A>C) c.552T>G (p.Leu184=) | |
9 | g.36246080A>G | CA464619685 | CLTA,GNE | c.660T>C (p.Leu220=) c.390T>C (p.Leu130=) c.567T>C (p.Leu189=) c.486-17118A>G (n.486-17118A>G) c.552T>C (p.Leu184=) | |
9 | g.36246080A>T | CA464619687 | CLTA,GNE | c.660T>A (p.Leu220=) c.390T>A (p.Leu130=) c.567T>A (p.Leu189=) c.486-17118A>T (n.486-17118A>T) c.552T>A (p.Leu184=) | |
9 | g.36246081A>C | CA373418107 | CLTA,GNE | c.659T>G (p.Leu220Arg) c.389T>G (p.Leu130Arg) c.566T>G (p.Leu189Arg) c.486-17117A>C (n.486-17117A>C) c.551T>G (p.Leu184Arg) | |
9 | g.36246081A>G | CA373418109 | CLTA,GNE | c.659T>C (p.Leu220Pro) c.389T>C (p.Leu130Pro) c.566T>C (p.Leu189Pro) c.486-17117A>G (n.486-17117A>G) c.551T>C (p.Leu184Pro) | gnomAD v4 |
9 | g.36246081A>T | CA373418111 | CLTA,GNE | c.659T>A (p.Leu220His) c.389T>A (p.Leu130His) c.566T>A (p.Leu189His) c.486-17117A>T (n.486-17117A>T) c.551T>A (p.Leu184His) | |
9 | g.36246082G>A | CA5056711 | CLTA,GNE | c.658C>T (p.Leu220Phe) c.388C>T (p.Leu130Phe) c.565C>T (p.Leu189Phe) c.486-17116G>A (n.486-17116G>A) c.550C>T (p.Leu184Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246082G>C | CA373418114 | CLTA,GNE | c.658C>G (p.Leu220Val) c.388C>G (p.Leu130Val) c.565C>G (p.Leu189Val) c.486-17116G>C (n.486-17116G>C) c.550C>G (p.Leu184Val) | gnomAD v4 |
9 | g.36246082G= | CA1846375186 | CLTA,GNE | c.658C= (p.Leu220=) c.388C= (p.Leu130=) c.565C= (p.Leu189=) c.486-17116G= (n.486-17116G=) c.550C= (p.Leu184=) | |
9 | g.36246082G>T | CA373418115 | CLTA,GNE | c.658C>A (p.Leu220Ile) c.388C>A (p.Leu130Ile) c.565C>A (p.Leu189Ile) c.486-17116G>T (n.486-17116G>T) c.550C>A (p.Leu184Ile) | |
9 | g.36246083T>A | CA373418119 | CLTA,GNE | c.657A>T (p.Lys219Asn) c.387A>T (p.Lys129Asn) c.564A>T (p.Lys188Asn) c.486-17115T>A (n.486-17115T>A) c.549A>T (p.Lys183Asn) | |
9 | g.36246083T>C | CA464619695 | CLTA,GNE | c.657A>G (p.Lys219=) c.387A>G (p.Lys129=) c.564A>G (p.Lys188=) c.486-17115T>C (n.486-17115T>C) c.549A>G (p.Lys183=) | |
9 | g.36246083T>G | CA373418120 | CLTA,GNE | c.657A>C (p.Lys219Asn) c.387A>C (p.Lys129Asn) c.564A>C (p.Lys188Asn) c.486-17115T>G (n.486-17115T>G) c.549A>C (p.Lys183Asn) | |
9 | g.36246084T>A | CA373418123 | CLTA,GNE | c.656A>T (p.Lys219Ile) c.386A>T (p.Lys129Ile) c.563A>T (p.Lys188Ile) c.486-17114T>A (n.486-17114T>A) c.548A>T (p.Lys183Ile) | |
9 | g.36246084T>C | CA373418125 | CLTA,GNE | c.656A>G (p.Lys219Arg) c.386A>G (p.Lys129Arg) c.563A>G (p.Lys188Arg) c.486-17114T>C (n.486-17114T>C) c.548A>G (p.Lys183Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246084T>G | CA373418127 | CLTA,GNE | c.656A>C (p.Lys219Thr) c.386A>C (p.Lys129Thr) c.563A>C (p.Lys188Thr) c.486-17114T>G (n.486-17114T>G) c.548A>C (p.Lys183Thr) | |
9 | g.36246084T= | CA1846375192 | CLTA,GNE | c.656A= (p.Lys219=) c.386A= (p.Lys129=) c.563A= (p.Lys188=) c.486-17114T= (n.486-17114T=) c.548A= (p.Lys183=) | |
9 | g.36246085T>A | CA373418134 | CLTA,GNE | c.655A>T (p.Lys219Ter) c.385A>T (p.Lys129Ter) c.562A>T (p.Lys188Ter) c.486-17113T>A (n.486-17113T>A) c.547A>T (p.Lys183Ter) | |
9 | g.36246085T>C | CA373418132 | CLTA,GNE | c.655A>G (p.Lys219Glu) c.385A>G (p.Lys129Glu) c.562A>G (p.Lys188Glu) c.486-17113T>C (n.486-17113T>C) c.547A>G (p.Lys183Glu) | |
9 | g.36246085T>G | CA373418129 | CLTA,GNE | c.655A>C (p.Lys219Gln) c.385A>C (p.Lys129Gln) c.562A>C (p.Lys188Gln) c.486-17113T>G (n.486-17113T>G) c.547A>C (p.Lys183Gln) | |
9 | g.36246086G>A | CA5056712 | CLTA,GNE | c.654C>T (p.Asp218=) c.384C>T (p.Asp128=) c.561C>T (p.Asp187=) c.486-17112G>A (n.486-17112G>A) c.546C>T (p.Asp182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246086G>C | CA373418139 | CLTA,GNE | c.654C>G (p.Asp218Glu) c.384C>G (p.Asp128Glu) c.561C>G (p.Asp187Glu) c.486-17112G>C (n.486-17112G>C) c.546C>G (p.Asp182Glu) | |
9 | g.36246086G= | CA1846375197 | CLTA,GNE | c.654C= (p.Asp218=) c.384C= (p.Asp128=) c.561C= (p.Asp187=) c.486-17112G= (n.486-17112G=) c.546C= (p.Asp182=) | |
9 | g.36246086G>T | CA373418137 | CLTA,GNE | c.654C>A (p.Asp218Glu) c.384C>A (p.Asp128Glu) c.561C>A (p.Asp187Glu) c.486-17112G>T (n.486-17112G>T) c.546C>A (p.Asp182Glu) | |
9 | g.36246087T>A | CA373418142 | CLTA,GNE | c.653A>T (p.Asp218Val) c.383A>T (p.Asp128Val) c.560A>T (p.Asp187Val) c.486-17111T>A (n.486-17111T>A) c.545A>T (p.Asp182Val) | |
9 | g.36246087T>C | CA373418143 | CLTA,GNE | c.653A>G (p.Asp218Gly) c.383A>G (p.Asp128Gly) c.560A>G (p.Asp187Gly) c.486-17111T>C (n.486-17111T>C) c.545A>G (p.Asp182Gly) | |
9 | g.36246087T>G | CA373418145 | CLTA,GNE | c.653A>C (p.Asp218Ala) c.383A>C (p.Asp128Ala) c.560A>C (p.Asp187Ala) c.486-17111T>G (n.486-17111T>G) c.545A>C (p.Asp182Ala) | |
9 | g.36246088C>A | CA373418148 | CLTA,GNE | c.652G>T (p.Asp218Tyr) c.382G>T (p.Asp128Tyr) c.559G>T (p.Asp187Tyr) c.486-17110C>A (n.486-17110C>A) c.544G>T (p.Asp182Tyr) | |
9 | g.36246088C= | CA1846375200 | CLTA,GNE | c.652G= (p.Asp218=) c.382G= (p.Asp128=) c.559G= (p.Asp187=) c.486-17110C= (n.486-17110C=) c.544G= (p.Asp182=) | |
9 | g.36246088C>G | CA373418149 | CLTA,GNE | c.652G>C (p.Asp218His) c.382G>C (p.Asp128His) c.559G>C (p.Asp187His) c.486-17110C>G (n.486-17110C>G) c.544G>C (p.Asp182His) | |
9 | g.36246088C>T | CA373418152 | CLTA,GNE | c.652G>A (p.Asp218Asn) c.382G>A (p.Asp128Asn) c.559G>A (p.Asp187Asn) c.486-17110C>T (n.486-17110C>T) c.544G>A (p.Asp182Asn) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246089A>C | CA373418154 | CLTA,GNE | c.651T>G (p.Tyr217Ter) c.381T>G (p.Tyr127Ter) c.558T>G (p.Tyr186Ter) c.486-17109A>C (n.486-17109A>C) c.543T>G (p.Tyr181Ter) | |
9 | g.36246089A>G | CA464619703 | CLTA,GNE | c.651T>C (p.Tyr217=) c.381T>C (p.Tyr127=) c.558T>C (p.Tyr186=) c.486-17109A>G (n.486-17109A>G) c.543T>C (p.Tyr181=) | |
9 | g.36246089A>T | CA373418156 | CLTA,GNE | c.651T>A (p.Tyr217Ter) c.381T>A (p.Tyr127Ter) c.558T>A (p.Tyr186Ter) c.486-17109A>T (n.486-17109A>T) c.543T>A (p.Tyr181Ter) | |
9 | g.36246089_36246090insGAAAATG | CA2509312939 | CLTA,GNE | c.650_651insCATTTTC (p.Asp218IlefsTer3) c.380_381insCATTTTC (p.Asp128IlefsTer3) c.557_558insCATTTTC (p.Asp187IlefsTer3) c.486-17109_486-17108insGAAAATG (n.486-17109_486-17108insGAAAATG) c.542_543insCATTTTC (p.Asp182IlefsTer3) | |
9 | g.36246090T>A | CA373418158 | CLTA,GNE | c.650A>T (p.Tyr217Phe) c.380A>T (p.Tyr127Phe) c.557A>T (p.Tyr186Phe) c.486-17108T>A (n.486-17108T>A) c.542A>T (p.Tyr181Phe) | |
9 | g.36246090T>C | CA5056713 | CLTA,GNE | c.650A>G (p.Tyr217Cys) c.380A>G (p.Tyr127Cys) c.557A>G (p.Tyr186Cys) c.486-17108T>C (n.486-17108T>C) c.542A>G (p.Tyr181Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246090T>G | CA373418161 | CLTA,GNE | c.650A>C (p.Tyr217Ser) c.380A>C (p.Tyr127Ser) c.557A>C (p.Tyr186Ser) c.486-17108T>G (n.486-17108T>G) c.542A>C (p.Tyr181Ser) | |
9 | g.36246090T= | CA1846375204 | CLTA,GNE | c.650A= (p.Tyr217=) c.380A= (p.Tyr127=) c.557A= (p.Tyr186=) c.486-17108T= (n.486-17108T=) c.542A= (p.Tyr181=) | |
9 | g.36246091A>C | CA373418163 | CLTA,GNE | c.649T>G (p.Tyr217Asp) c.379T>G (p.Tyr127Asp) c.556T>G (p.Tyr186Asp) c.486-17107A>C (n.486-17107A>C) c.541T>G (p.Tyr181Asp) | |
9 | g.36246091A>G | CA373418165 | CLTA,GNE | c.649T>C (p.Tyr217His) c.379T>C (p.Tyr127His) c.556T>C (p.Tyr186His) c.486-17107A>G (n.486-17107A>G) c.541T>C (p.Tyr181His) | ClinVar |
9 | g.36246091A>T | CA373418167 | CLTA,GNE | c.649T>A (p.Tyr217Asn) c.379T>A (p.Tyr127Asn) c.556T>A (p.Tyr186Asn) c.486-17107A>T (n.486-17107A>T) c.541T>A (p.Tyr181Asn) | |
9 | g.36246092G>A | CA464619717 | CLTA,GNE | c.648C>T (p.Ser216=) c.378C>T (p.Ser126=) c.555C>T (p.Ser185=) c.486-17106G>A (n.486-17106G>A) c.540C>T (p.Ser180=) | |
9 | g.36246092G>C | CA464619714 | CLTA,GNE | c.648C>G (p.Ser216=) c.378C>G (p.Ser126=) c.555C>G (p.Ser185=) c.486-17106G>C (n.486-17106G>C) c.540C>G (p.Ser180=) | |
9 | g.36246092G>T | CA464619711 | CLTA,GNE | c.648C>A (p.Ser216=) c.378C>A (p.Ser126=) c.555C>A (p.Ser185=) c.486-17106G>T (n.486-17106G>T) c.540C>A (p.Ser180=) | |
9 | g.36246093G>A | CA373418172 | CLTA,GNE | c.647C>T (p.Ser216Phe) c.377C>T (p.Ser126Phe) c.554C>T (p.Ser185Phe) c.486-17105G>A (n.486-17105G>A) c.539C>T (p.Ser180Phe) | |
9 | g.36246093G>C | CA373418171 | CLTA,GNE | c.647C>G (p.Ser216Cys) c.377C>G (p.Ser126Cys) c.554C>G (p.Ser185Cys) c.486-17105G>C (n.486-17105G>C) c.539C>G (p.Ser180Cys) | |
9 | g.36246093G>T | CA373418169 | CLTA,GNE | c.647C>A (p.Ser216Tyr) c.377C>A (p.Ser126Tyr) c.554C>A (p.Ser185Tyr) c.486-17105G>T (n.486-17105G>T) c.539C>A (p.Ser180Tyr) | |
9 | g.36246094A>C | CA373418174 | CLTA,GNE | c.646T>G (p.Ser216Ala) c.376T>G (p.Ser126Ala) c.553T>G (p.Ser185Ala) c.486-17104A>C (n.486-17104A>C) c.538T>G (p.Ser180Ala) | |
9 | g.36246094A>G | CA373418175 | CLTA,GNE | c.646T>C (p.Ser216Pro) c.376T>C (p.Ser126Pro) c.553T>C (p.Ser185Pro) c.486-17104A>G (n.486-17104A>G) c.538T>C (p.Ser180Pro) | |
9 | g.36246094A>T | CA373418177 | CLTA,GNE | c.646T>A (p.Ser216Thr) c.376T>A (p.Ser126Thr) c.553T>A (p.Ser185Thr) c.486-17104A>T (n.486-17104A>T) c.538T>A (p.Ser180Thr) | |
9 | g.36246096_36246109del | CA2740095486 | CLTA,GNE | c.633_646del (p.Leu211PhefsTer3) c.363_376del (p.Leu121PhefsTer3) c.540_553del (p.Leu180PhefsTer3) c.486-17102_486-17089del (n.486-17102_486-17089del) c.525_538del (p.Leu175PhefsTer3) | ClinVar |
9 | g.36246095A>C | CA464619721 | CLTA,GNE | c.645T>G (p.Pro215=) c.375T>G (p.Pro125=) c.552T>G (p.Pro184=) c.486-17103A>C (n.486-17103A>C) c.537T>G (p.Pro179=) | |
9 | g.36246095A>G | CA464619726 | CLTA,GNE | c.645T>C (p.Pro215=) c.375T>C (p.Pro125=) c.552T>C (p.Pro184=) c.486-17103A>G (n.486-17103A>G) c.537T>C (p.Pro179=) | |
9 | g.36246095A>T | CA464619723 | CLTA,GNE | c.645T>A (p.Pro215=) c.375T>A (p.Pro125=) c.552T>A (p.Pro184=) c.486-17103A>T (n.486-17103A>T) c.537T>A (p.Pro179=) | |
9 | g.36246096G>A | CA373418178 | CLTA,GNE | c.644C>T (p.Pro215Leu) c.374C>T (p.Pro125Leu) c.551C>T (p.Pro184Leu) c.486-17102G>A (n.486-17102G>A) c.536C>T (p.Pro179Leu) | |
9 | g.36246096G>C | CA373418180 | CLTA,GNE | c.644C>G (p.Pro215Arg) c.374C>G (p.Pro125Arg) c.551C>G (p.Pro184Arg) c.486-17102G>C (n.486-17102G>C) c.536C>G (p.Pro179Arg) | |
9 | g.36246096G>T | CA373418182 | CLTA,GNE | c.644C>A (p.Pro215His) c.374C>A (p.Pro125His) c.551C>A (p.Pro184His) c.486-17102G>T (n.486-17102G>T) c.536C>A (p.Pro179His) | |
9 | g.36246097G>A | CA373418185 | CLTA,GNE | c.643C>T (p.Pro215Ser) c.373C>T (p.Pro125Ser) c.550C>T (p.Pro184Ser) c.486-17101G>A (n.486-17101G>A) c.535C>T (p.Pro179Ser) | |
9 | g.36246097G>C | CA373418186 | CLTA,GNE | c.643C>G (p.Pro215Ala) c.373C>G (p.Pro125Ala) c.550C>G (p.Pro184Ala) c.486-17101G>C (n.486-17101G>C) c.535C>G (p.Pro179Ala) | |
9 | g.36246097G>T | CA373418187 | CLTA,GNE | c.643C>A (p.Pro215Thr) c.373C>A (p.Pro125Thr) c.550C>A (p.Pro184Thr) c.486-17101G>T (n.486-17101G>T) c.535C>A (p.Pro179Thr) | |
9 | g.36246098G>A | CA464619738 | CLTA,GNE | c.642C>T (p.Cys214=) c.372C>T (p.Cys124=) c.549C>T (p.Cys183=) c.486-17100G>A (n.486-17100G>A) c.534C>T (p.Cys178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246098G>C | CA373418190 | CLTA,GNE | c.642C>G (p.Cys214Trp) c.372C>G (p.Cys124Trp) c.549C>G (p.Cys183Trp) c.486-17100G>C (n.486-17100G>C) c.534C>G (p.Cys178Trp) | |
9 | g.36246098G= | CA1846375205 | CLTA,GNE | c.642C= (p.Cys214=) c.372C= (p.Cys124=) c.549C= (p.Cys183=) c.486-17100G= (n.486-17100G=) c.534C= (p.Cys178=) | |
9 | g.36246098G>T | CA373418192 | CLTA,GNE | c.642C>A (p.Cys214Ter) c.372C>A (p.Cys124Ter) c.549C>A (p.Cys183Ter) c.486-17100G>T (n.486-17100G>T) c.534C>A (p.Cys178Ter) | |
9 | g.36246099C>A | CA373418194 | CLTA,GNE | c.641G>T (p.Cys214Phe) c.371G>T (p.Cys124Phe) c.548G>T (p.Cys183Phe) c.486-17099C>A (n.486-17099C>A) c.533G>T (p.Cys178Phe) | |
9 | g.36246099C= | CA1846375208 | CLTA,GNE | c.641G= (p.Cys214=) c.371G= (p.Cys124=) c.548G= (p.Cys183=) c.486-17099C= (n.486-17099C=) c.533G= (p.Cys178=) | |
9 | g.36246099C>G | CA373418196 | CLTA,GNE | c.641G>C (p.Cys214Ser) c.371G>C (p.Cys124Ser) c.548G>C (p.Cys183Ser) c.486-17099C>G (n.486-17099C>G) c.533G>C (p.Cys178Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246099C>T | CA373418198 | CLTA,GNE | c.641G>A (p.Cys214Tyr) c.371G>A (p.Cys124Tyr) c.548G>A (p.Cys183Tyr) c.486-17099C>T (n.486-17099C>T) c.533G>A (p.Cys178Tyr) | |
9 | g.36246100A>C | CA373418203 | CLTA,GNE | c.640T>G (p.Cys214Gly) c.370T>G (p.Cys124Gly) c.547T>G (p.Cys183Gly) c.486-17098A>C (n.486-17098A>C) c.532T>G (p.Cys178Gly) | |
9 | g.36246100A>G | CA373418201 | CLTA,GNE | c.640T>C (p.Cys214Arg) c.370T>C (p.Cys124Arg) c.547T>C (p.Cys183Arg) c.486-17098A>G (n.486-17098A>G) c.532T>C (p.Cys178Arg) | |
9 | g.36246100A>T | CA373418200 | CLTA,GNE | c.640T>A (p.Cys214Ser) c.370T>A (p.Cys124Ser) c.547T>A (p.Cys183Ser) c.486-17098A>T (n.486-17098A>T) c.532T>A (p.Cys178Ser) | |
9 | g.36246101G>A | CA464619743 | CLTA,GNE | c.639C>T (p.Gly213=) c.369C>T (p.Gly123=) c.546C>T (p.Gly182=) c.486-17097G>A (n.486-17097G>A) c.531C>T (p.Gly177=) | |
9 | g.36246101G>C | CA464619745 | CLTA,GNE | c.639C>G (p.Gly213=) c.369C>G (p.Gly123=) c.546C>G (p.Gly182=) c.486-17097G>C (n.486-17097G>C) c.531C>G (p.Gly177=) | |
9 | g.36246101G>T | CA464619747 | CLTA,GNE | c.639C>A (p.Gly213=) c.369C>A (p.Gly123=) c.546C>A (p.Gly182=) c.486-17097G>T (n.486-17097G>T) c.531C>A (p.Gly177=) | |
9 | g.36246102C>A | CA373418205 | CLTA,GNE | c.638G>T (p.Gly213Val) c.368G>T (p.Gly123Val) c.545G>T (p.Gly182Val) c.486-17096C>A (n.486-17096C>A) c.530G>T (p.Gly177Val) | |
9 | g.36246102C>G | CA373418207 | CLTA,GNE | c.638G>C (p.Gly213Ala) c.368G>C (p.Gly123Ala) c.545G>C (p.Gly182Ala) c.486-17096C>G (n.486-17096C>G) c.530G>C (p.Gly177Ala) | |
9 | g.36246102C>T | CA373418209 | CLTA,GNE | c.638G>A (p.Gly213Asp) c.368G>A (p.Gly123Asp) c.545G>A (p.Gly182Asp) c.486-17096C>T (n.486-17096C>T) c.530G>A (p.Gly177Asp) | |
9 | g.36246103C>A | CA373418211 | CLTA,GNE | c.637G>T (p.Gly213Cys) c.367G>T (p.Gly123Cys) c.544G>T (p.Gly182Cys) c.486-17095C>A (n.486-17095C>A) c.529G>T (p.Gly177Cys) | |
9 | g.36246103C>G | CA373418213 | CLTA,GNE | c.637G>C (p.Gly213Arg) c.367G>C (p.Gly123Arg) c.544G>C (p.Gly182Arg) c.486-17095C>G (n.486-17095C>G) c.529G>C (p.Gly177Arg) | |
9 | g.36246103C>T | CA373418215 | CLTA,GNE | c.637G>A (p.Gly213Ser) c.367G>A (p.Gly123Ser) c.544G>A (p.Gly182Ser) c.486-17095C>T (n.486-17095C>T) c.529G>A (p.Gly177Ser) | |
9 | g.36246104T>A | CA464619755 | CLTA,GNE | c.636A>T (p.Ala212=) c.366A>T (p.Ala122=) c.543A>T (p.Ala181=) c.486-17094T>A (n.486-17094T>A) c.528A>T (p.Ala176=) | |
9 | g.36246104T>C | CA464619756 | CLTA,GNE | c.636A>G (p.Ala212=) c.366A>G (p.Ala122=) c.543A>G (p.Ala181=) c.486-17094T>C (n.486-17094T>C) c.528A>G (p.Ala176=) | |
9 | g.36246104T>G | CA464619758 | CLTA,GNE | c.636A>C (p.Ala212=) c.366A>C (p.Ala122=) c.543A>C (p.Ala181=) c.486-17094T>G (n.486-17094T>G) c.528A>C (p.Ala176=) | |
9 | g.36246105G>A | CA192828159 | CLTA,GNE | c.635C>T (p.Ala212Val) c.365C>T (p.Ala122Val) c.542C>T (p.Ala181Val) c.486-17093G>A (n.486-17093G>A) c.527C>T (p.Ala176Val) | dbSNP |
9 | g.36246105G>C | CA373418218 | CLTA,GNE | c.635C>G (p.Ala212Gly) c.365C>G (p.Ala122Gly) c.542C>G (p.Ala181Gly) c.486-17093G>C (n.486-17093G>C) c.527C>G (p.Ala176Gly) | dbSNP |
9 | g.36246105G= | CA1846375210 | CLTA,GNE | c.635C= (p.Ala212=) c.365C= (p.Ala122=) c.542C= (p.Ala181=) c.486-17093G= (n.486-17093G=) c.527C= (p.Ala176=) | |
9 | g.36246105G>T | CA373418219 | CLTA,GNE | c.635C>A (p.Ala212Glu) c.365C>A (p.Ala122Glu) c.542C>A (p.Ala181Glu) c.486-17093G>T (n.486-17093G>T) c.527C>A (p.Ala176Glu) | |
9 | g.36246106C>A | CA373418222 | CLTA,GNE | c.634G>T (p.Ala212Ser) c.364G>T (p.Ala122Ser) c.541G>T (p.Ala181Ser) c.486-17092C>A (n.486-17092C>A) c.526G>T (p.Ala176Ser) | |
9 | g.36246106C>G | CA373418224 | CLTA,GNE | c.634G>C (p.Ala212Pro) c.364G>C (p.Ala122Pro) c.541G>C (p.Ala181Pro) c.486-17092C>G (n.486-17092C>G) c.526G>C (p.Ala176Pro) | |
9 | g.36246106C>T | CA373418226 | CLTA,GNE | c.634G>A (p.Ala212Thr) c.364G>A (p.Ala122Thr) c.541G>A (p.Ala181Thr) c.486-17092C>T (n.486-17092C>T) c.526G>A (p.Ala176Thr) | |
9 | g.36246107C>A | CA373418228 | CLTA,GNE | c.633G>T (p.Leu211Phe) c.363G>T (p.Leu121Phe) c.540G>T (p.Leu180Phe) c.486-17091C>A (n.486-17091C>A) c.525G>T (p.Leu175Phe) | |
9 | g.36246107C>G | CA373418230 | CLTA,GNE | c.633G>C (p.Leu211Phe) c.363G>C (p.Leu121Phe) c.540G>C (p.Leu180Phe) c.486-17091C>G (n.486-17091C>G) c.525G>C (p.Leu175Phe) | |
9 | g.36246107C>T | CA464619762 | CLTA,GNE | c.633G>A (p.Leu211=) c.363G>A (p.Leu121=) c.540G>A (p.Leu180=) c.486-17091C>T (n.486-17091C>T) c.525G>A (p.Leu175=) | |
9 | g.36246108A>C | CA373418236 | CLTA,GNE | c.632T>G (p.Leu211Trp) c.362T>G (p.Leu121Trp) c.539T>G (p.Leu180Trp) c.486-17090A>C (n.486-17090A>C) c.524T>G (p.Leu175Trp) | |
9 | g.36246108A>G | CA373418233 | CLTA,GNE | c.632T>C (p.Leu211Ser) c.362T>C (p.Leu121Ser) c.539T>C (p.Leu180Ser) c.486-17090A>G (n.486-17090A>G) c.524T>C (p.Leu175Ser) | |
9 | g.36246108A>T | CA373418234 | CLTA,GNE | c.632T>A (p.Leu211Ter) c.362T>A (p.Leu121Ter) c.539T>A (p.Leu180Ter) c.486-17090A>T (n.486-17090A>T) c.524T>A (p.Leu175Ter) | |
9 | g.36246109A>C | CA373418239 | CLTA,GNE | c.631T>G (p.Leu211Val) c.361T>G (p.Leu121Val) c.538T>G (p.Leu180Val) c.486-17089A>C (n.486-17089A>C) c.523T>G (p.Leu175Val) | |
9 | g.36246109A>G | CA464619763 | CLTA,GNE | c.631T>C (p.Leu211=) c.361T>C (p.Leu121=) c.538T>C (p.Leu180=) c.486-17089A>G (n.486-17089A>G) c.523T>C (p.Leu175=) | ClinVar dbSNP |
9 | g.36246109A>T | CA373418240 | CLTA,GNE | c.631T>A (p.Leu211Met) c.361T>A (p.Leu121Met) c.538T>A (p.Leu180Met) c.486-17089A>T (n.486-17089A>T) c.523T>A (p.Leu175Met) | |
9 | g.36246110A= | CA1846375213 | CLTA,GNE | c.630T= (p.Leu210=) c.360T= (p.Leu120=) c.537T= (p.Leu179=) c.486-17088A= (n.486-17088A=) c.522T= (p.Leu174=) | |
9 | g.36246110A>C | CA464619764 | CLTA,GNE | c.630T>G (p.Leu210=) c.360T>G (p.Leu120=) c.537T>G (p.Leu179=) c.486-17088A>C (n.486-17088A>C) c.522T>G (p.Leu174=) | |
9 | g.36246110A>G | CA192828181 | CLTA,GNE | c.630T>C (p.Leu210=) c.360T>C (p.Leu120=) c.537T>C (p.Leu179=) c.486-17088A>G (n.486-17088A>G) c.522T>C (p.Leu174=) | dbSNP |
9 | g.36246110A>T | CA464619766 | CLTA,GNE | c.630T>A (p.Leu210=) c.360T>A (p.Leu120=) c.537T>A (p.Leu179=) c.486-17088A>T (n.486-17088A>T) c.522T>A (p.Leu174=) | |
9 | g.36246111A>C | CA373418243 | CLTA,GNE | c.629T>G (p.Leu210Arg) c.359T>G (p.Leu120Arg) c.536T>G (p.Leu179Arg) c.486-17087A>C (n.486-17087A>C) c.521T>G (p.Leu174Arg) | |
9 | g.36246111A>G | CA373418245 | CLTA,GNE | c.629T>C (p.Leu210Pro) c.359T>C (p.Leu120Pro) c.536T>C (p.Leu179Pro) c.486-17087A>G (n.486-17087A>G) c.521T>C (p.Leu174Pro) | |
9 | g.36246111A>T | CA373418246 | CLTA,GNE | c.629T>A (p.Leu210His) c.359T>A (p.Leu120His) c.536T>A (p.Leu179His) c.486-17087A>T (n.486-17087A>T) c.521T>A (p.Leu174His) | |
9 | g.36246112G>A | CA373418248 | CLTA,GNE | c.628C>T (p.Leu210Phe) c.358C>T (p.Leu120Phe) c.535C>T (p.Leu179Phe) c.486-17086G>A (n.486-17086G>A) c.520C>T (p.Leu174Phe) | gnomAD v4 |
9 | g.36246112G>C | CA373418250 | CLTA,GNE | c.628C>G (p.Leu210Val) c.358C>G (p.Leu120Val) c.535C>G (p.Leu179Val) c.486-17086G>C (n.486-17086G>C) c.520C>G (p.Leu174Val) | |
9 | g.36246112G>T | CA373418252 | CLTA,GNE | c.628C>A (p.Leu210Ile) c.358C>A (p.Leu120Ile) c.535C>A (p.Leu179Ile) c.486-17086G>T (n.486-17086G>T) c.520C>A (p.Leu174Ile) | |
9 | g.36246113G>A | CA464619768 | CLTA,GNE | c.627C>T (p.Ile209=) c.357C>T (p.Ile119=) c.534C>T (p.Ile178=) c.486-17085G>A (n.486-17085G>A) c.519C>T (p.Ile173=) | |
9 | g.36246113G>C | CA373418254 | CLTA,GNE | c.627C>G (p.Ile209Met) c.357C>G (p.Ile119Met) c.534C>G (p.Ile178Met) c.486-17085G>C (n.486-17085G>C) c.519C>G (p.Ile173Met) | |
9 | g.36246113G>T | CA464619770 | CLTA,GNE | c.627C>A (p.Ile209=) c.357C>A (p.Ile119=) c.534C>A (p.Ile178=) c.486-17085G>T (n.486-17085G>T) c.519C>A (p.Ile173=) | |
9 | g.36246114A>C | CA373418257 | CLTA,GNE | c.626T>G (p.Ile209Ser) c.356T>G (p.Ile119Ser) c.533T>G (p.Ile178Ser) c.486-17084A>C (n.486-17084A>C) c.518T>G (p.Ile173Ser) | |
9 | g.36246114A>G | CA373418258 | CLTA,GNE | c.626T>C (p.Ile209Thr) c.356T>C (p.Ile119Thr) c.533T>C (p.Ile178Thr) c.486-17084A>G (n.486-17084A>G) c.518T>C (p.Ile173Thr) | |
9 | g.36246114A>T | CA373418260 | CLTA,GNE | c.626T>A (p.Ile209Asn) c.356T>A (p.Ile119Asn) c.533T>A (p.Ile178Asn) c.486-17084A>T (n.486-17084A>T) c.518T>A (p.Ile173Asn) | |
9 | g.36246115T>A | CA373418262 | CLTA,GNE | c.625A>T (p.Ile209Phe) c.355A>T (p.Ile119Phe) c.532A>T (p.Ile178Phe) c.486-17083T>A (n.486-17083T>A) c.517A>T (p.Ile173Phe) | |
9 | g.36246115T>C | CA373418265 | CLTA,GNE | c.625A>G (p.Ile209Val) c.355A>G (p.Ile119Val) c.532A>G (p.Ile178Val) c.486-17083T>C (n.486-17083T>C) c.517A>G (p.Ile173Val) | |
9 | g.36246115T>G | CA373418263 | CLTA,GNE | c.625A>C (p.Ile209Leu) c.355A>C (p.Ile119Leu) c.532A>C (p.Ile178Leu) c.486-17083T>G (n.486-17083T>G) c.517A>C (p.Ile173Leu) | |
9 | g.36246116G>A | CA5056714 | CLTA,GNE | c.624C>T (p.Arg208=) c.354C>T (p.Arg118=) c.531C>T (p.Arg177=) c.486-17082G>A (n.486-17082G>A) c.516C>T (p.Arg172=) | dbSNP ExAC gnomAD v2 |
9 | g.36246116G>C | CA464619776 | CLTA,GNE | c.624C>G (p.Arg208=) c.354C>G (p.Arg118=) c.531C>G (p.Arg177=) c.486-17082G>C (n.486-17082G>C) c.516C>G (p.Arg172=) | |
9 | g.36246116G= | CA1846375216 | CLTA,GNE | c.624C= (p.Arg208=) c.354C= (p.Arg118=) c.531C= (p.Arg177=) c.486-17082G= (n.486-17082G=) c.516C= (p.Arg172=) | |
9 | g.36246116G>T | CA464619778 | CLTA,GNE | c.624C>A (p.Arg208=) c.354C>A (p.Arg118=) c.531C>A (p.Arg177=) c.486-17082G>T (n.486-17082G>T) c.516C>A (p.Arg172=) | |
9 | g.36246117C>A | CA373418272 | CLTA,GNE | c.623G>T (p.Arg208Leu) c.353G>T (p.Arg118Leu) c.530G>T (p.Arg177Leu) c.486-17081C>A (n.486-17081C>A) c.515G>T (p.Arg172Leu) | |
9 | g.36246117C= | CA1846375221 | CLTA,GNE | c.623G= (p.Arg208=) c.353G= (p.Arg118=) c.530G= (p.Arg177=) c.486-17081C= (n.486-17081C=) c.515G= (p.Arg172=) | |
9 | g.36246117C>G | CA373418269 | CLTA,GNE | c.623G>C (p.Arg208Pro) c.353G>C (p.Arg118Pro) c.530G>C (p.Arg177Pro) c.486-17081C>G (n.486-17081C>G) c.515G>C (p.Arg172Pro) | |
9 | g.36246117C>T | CA5056715 | CLTA,GNE | c.623G>A (p.Arg208His) c.353G>A (p.Arg118His) c.530G>A (p.Arg177His) c.486-17081C>T (n.486-17081C>T) c.515G>A (p.Arg172His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246118G>A | CA5056716 | CLTA,GNE | c.622C>T (p.Arg208Cys) c.352C>T (p.Arg118Cys) c.529C>T (p.Arg177Cys) c.486-17080G>A (n.486-17080G>A) c.514C>T (p.Arg172Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246118G>C | CA373418276 | CLTA,GNE | c.622C>G (p.Arg208Gly) c.352C>G (p.Arg118Gly) c.529C>G (p.Arg177Gly) c.486-17080G>C (n.486-17080G>C) c.514C>G (p.Arg172Gly) | gnomAD v4 |
9 | g.36246118G= | CA1846375231 | CLTA,GNE | c.622C= (p.Arg208=) c.352C= (p.Arg118=) c.529C= (p.Arg177=) c.486-17080G= (n.486-17080G=) c.514C= (p.Arg172=) | |
9 | g.36246118G>T | CA373418278 | CLTA,GNE | c.622C>A (p.Arg208Ser) c.352C>A (p.Arg118Ser) c.529C>A (p.Arg177Ser) c.486-17080G>T (n.486-17080G>T) c.514C>A (p.Arg172Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246119A>C | CA373418280 | CLTA,GNE | c.621T>G (p.Asp207Glu) c.351T>G (p.Asp117Glu) c.528T>G (p.Asp176Glu) c.486-17079A>C (n.486-17079A>C) c.513T>G (p.Asp171Glu) | |
9 | g.36246119A>G | CA464619782 | CLTA,GNE | c.621T>C (p.Asp207=) c.351T>C (p.Asp117=) c.528T>C (p.Asp176=) c.486-17079A>G (n.486-17079A>G) c.513T>C (p.Asp171=) | |
9 | g.36246119A>T | CA373418282 | CLTA,GNE | c.621T>A (p.Asp207Glu) c.351T>A (p.Asp117Glu) c.528T>A (p.Asp176Glu) c.486-17079A>T (n.486-17079A>T) c.513T>A (p.Asp171Glu) | COSMIC COSMIC COSMIC |
9 | g.36246120T>A | CA344238 | CLTA,GNE | c.620A>T (p.Asp207Val) c.350A>T (p.Asp117Val) c.527A>T (p.Asp176Val) c.486-17078T>A (n.486-17078T>A) c.512A>T (p.Asp171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246120T>C | CA373418286 | CLTA,GNE | c.620A>G (p.Asp207Gly) c.350A>G (p.Asp117Gly) c.527A>G (p.Asp176Gly) c.486-17078T>C (n.486-17078T>C) c.512A>G (p.Asp171Gly) | gnomAD v4 |
9 | g.36246120T>G | CA373418288 | CLTA,GNE | c.620A>C (p.Asp207Ala) c.350A>C (p.Asp117Ala) c.527A>C (p.Asp176Ala) c.486-17078T>G (n.486-17078T>G) c.512A>C (p.Asp171Ala) | |
9 | g.36246120T= | CA1846375234 | CLTA,GNE | c.620A= (p.Asp207=) c.350A= (p.Asp117=) c.527A= (p.Asp176=) c.486-17078T= (n.486-17078T=) c.512A= (p.Asp171=) | |
9 | g.36246121C>A | CA373418290 | CLTA,GNE | c.619G>T (p.Asp207Tyr) c.349G>T (p.Asp117Tyr) c.526G>T (p.Asp176Tyr) c.486-17077C>A (n.486-17077C>A) c.511G>T (p.Asp171Tyr) | |
9 | g.36246121C= | CA1846375240 | CLTA,GNE | c.619G= (p.Asp207=) c.349G= (p.Asp117=) c.526G= (p.Asp176=) c.486-17077C= (n.486-17077C=) c.511G= (p.Asp171=) | |
9 | g.36246121C>G | CA373418291 | CLTA,GNE | c.619G>C (p.Asp207His) c.349G>C (p.Asp117His) c.526G>C (p.Asp176His) c.486-17077C>G (n.486-17077C>G) c.511G>C (p.Asp171His) | |
9 | g.36246121C>T | CA5056717 | CLTA,GNE | c.619G>A (p.Asp207Asn) c.349G>A (p.Asp117Asn) c.526G>A (p.Asp176Asn) c.486-17077C>T (n.486-17077C>T) c.511G>A (p.Asp171Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246122A>C | CA373418295 | CLTA,GNE | c.618T>G (p.His206Gln) c.348T>G (p.His116Gln) c.525T>G (p.His175Gln) c.486-17076A>C (n.486-17076A>C) c.510T>G (p.His170Gln) | |
9 | g.36246122A>G | CA464619786 | CLTA,GNE | c.618T>C (p.His206=) c.348T>C (p.His116=) c.525T>C (p.His175=) c.486-17076A>G (n.486-17076A>G) c.510T>C (p.His170=) | |
9 | g.36246122A>T | CA373418297 | CLTA,GNE | c.618T>A (p.His206Gln) c.348T>A (p.His116Gln) c.525T>A (p.His175Gln) c.486-17076A>T (n.486-17076A>T) c.510T>A (p.His170Gln) | |
9 | g.36246123T>A | CA373418299 | CLTA,GNE | c.617A>T (p.His206Leu) c.347A>T (p.His116Leu) c.524A>T (p.His175Leu) c.486-17075T>A (n.486-17075T>A) c.509A>T (p.His170Leu) | |
9 | g.36246123T>C | CA373418301 | CLTA,GNE | c.617A>G (p.His206Arg) c.347A>G (p.His116Arg) c.524A>G (p.His175Arg) c.486-17075T>C (n.486-17075T>C) c.509A>G (p.His170Arg) | gnomAD v4 |
9 | g.36246123T>G | CA373418303 | CLTA,GNE | c.617A>C (p.His206Pro) c.347A>C (p.His116Pro) c.524A>C (p.His175Pro) c.486-17075T>G (n.486-17075T>G) c.509A>C (p.His170Pro) | |
9 | g.36246124G>A | CA373418305 | CLTA,GNE | c.616C>T (p.His206Tyr) c.346C>T (p.His116Tyr) c.523C>T (p.His175Tyr) c.486-17074G>A (n.486-17074G>A) c.508C>T (p.His170Tyr) | |
9 | g.36246124G>C | CA373418307 | CLTA,GNE | c.616C>G (p.His206Asp) c.346C>G (p.His116Asp) c.523C>G (p.His175Asp) c.486-17074G>C (n.486-17074G>C) c.508C>G (p.His170Asp) | |
9 | g.36246124G>T | CA373418309 | CLTA,GNE | c.616C>A (p.His206Asn) c.346C>A (p.His116Asn) c.523C>A (p.His175Asn) c.486-17074G>T (n.486-17074G>T) c.508C>A (p.His170Asn) | |
9 | g.36246125G>A | CA464619798 | CLTA,GNE | c.615C>T (p.Asp205=) c.345C>T (p.Asp115=) c.522C>T (p.Asp174=) c.486-17073G>A (n.486-17073G>A) c.507C>T (p.Asp169=) | |
9 | g.36246125G>C | CA373418310 | CLTA,GNE | c.615C>G (p.Asp205Glu) c.345C>G (p.Asp115Glu) c.522C>G (p.Asp174Glu) c.486-17073G>C (n.486-17073G>C) c.507C>G (p.Asp169Glu) | |
9 | g.36246125G>T | CA373418311 | CLTA,GNE | c.615C>A (p.Asp205Glu) c.345C>A (p.Asp115Glu) c.522C>A (p.Asp174Glu) c.486-17073G>T (n.486-17073G>T) c.507C>A (p.Asp169Glu) | |
9 | g.36246126T>A | CA373418312 | CLTA,GNE | c.614A>T (p.Asp205Val) c.344A>T (p.Asp115Val) c.521A>T (p.Asp174Val) c.486-17072T>A (n.486-17072T>A) c.506A>T (p.Asp169Val) | |
9 | g.36246126T>C | CA373418314 | CLTA,GNE | c.614A>G (p.Asp205Gly) c.344A>G (p.Asp115Gly) c.521A>G (p.Asp174Gly) c.486-17072T>C (n.486-17072T>C) c.506A>G (p.Asp169Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246126T>G | CA373418316 | CLTA,GNE | c.614A>C (p.Asp205Ala) c.344A>C (p.Asp115Ala) c.521A>C (p.Asp174Ala) c.486-17072T>G (n.486-17072T>G) c.506A>C (p.Asp169Ala) | |
9 | g.36246126T= | CA1846375242 | CLTA,GNE | c.614A= (p.Asp205=) c.344A= (p.Asp115=) c.521A= (p.Asp174=) c.486-17072T= (n.486-17072T=) c.506A= (p.Asp169=) | |
9 | g.36246127C>A | CA373418321 | CLTA,GNE | c.613G>T (p.Asp205Tyr) c.343G>T (p.Asp115Tyr) c.520G>T (p.Asp174Tyr) c.486-17071C>A (n.486-17071C>A) c.505G>T (p.Asp169Tyr) | |
9 | g.36246127C>G | CA373418323 | CLTA,GNE | c.613G>C (p.Asp205His) c.343G>C (p.Asp115His) c.520G>C (p.Asp174His) c.486-17071C>G (n.486-17071C>G) c.505G>C (p.Asp169His) | |
9 | g.36246127C>T | CA373418318 | CLTA,GNE | c.613G>A (p.Asp205Asn) c.343G>A (p.Asp115Asn) c.520G>A (p.Asp174Asn) c.486-17071C>T (n.486-17071C>T) c.505G>A (p.Asp169Asn) |