Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122262041_122262043del | CA2586972806 | CASR | c.1006_1008del (p.Lys336del) c.523_525del (p.Lys175del) c.418_420del (p.Lys140del) | |
3 | g.122262043G>A | CA435424990 | CASR | c.1008G>A (p.Lys336=) c.525G>A (p.Lys175=) c.420G>A (p.Lys140=) | |
3 | g.122262043G>C | CA2569573 | CASR | c.1008G>C (p.Lys336Asn) c.525G>C (p.Lys175Asn) c.420G>C (p.Lys140Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262043G= | CA1397873295 | CASR | c.1008G= (p.Lys336=) c.525G= (p.Lys175=) c.420G= (p.Lys140=) | |
3 | g.122262043G>T | CA2569572 | CASR | c.1008G>T (p.Lys336Asn) c.525G>T (p.Lys175Asn) c.420G>T (p.Lys140Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262044G>A | CA354152099 | CASR | c.1009G>A (p.Val337Ile) c.526G>A (p.Val176Ile) c.421G>A (p.Val141Ile) | dbSNP |
3 | g.122262044G>C | CA354152100 | CASR | c.1009G>C (p.Val337Leu) c.526G>C (p.Val176Leu) c.421G>C (p.Val141Leu) | |
3 | g.122262044G= | CA1397873299 | CASR | c.1009G= (p.Val337=) c.526G= (p.Val176=) c.421G= (p.Val141=) | |
3 | g.122262044G>T | CA2569574 | CASR | c.1009G>T (p.Val337Phe) c.526G>T (p.Val176Phe) c.421G>T (p.Val141Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262045T>A | CA354152101 | CASR | c.1010T>A (p.Val337Asp) c.527T>A (p.Val176Asp) c.422T>A (p.Val141Asp) | |
3 | g.122262045T>C | CA354152102 | CASR | c.1010T>C (p.Val337Ala) c.527T>C (p.Val176Ala) c.422T>C (p.Val141Ala) | ClinVar dbSNP |
3 | g.122262045T>G | CA354152104 | CASR | c.1010T>G (p.Val337Gly) c.527T>G (p.Val176Gly) c.422T>G (p.Val141Gly) | |
3 | g.122262046C>A | CA435424999 | CASR | c.1011C>A (p.Val337=) c.528C>A (p.Val176=) c.423C>A (p.Val141=) | |
3 | g.122262046C= | CA1397873302 | CASR | c.1011C= (p.Val337=) c.528C= (p.Val176=) c.423C= (p.Val141=) | |
3 | g.122262046C>G | CA2569575 | CASR | c.1011C>G (p.Val337=) c.528C>G (p.Val176=) c.423C>G (p.Val141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262046C>T | CA435425000 | CASR | c.1011C>T (p.Val337=) c.528C>T (p.Val176=) c.423C>T (p.Val141=) | |
3 | g.122262047C>A | CA354152107 | CASR | c.1012C>A (p.His338Asn) c.529C>A (p.His177Asn) c.424C>A (p.His142Asn) | |
3 | g.122262047C= | CA1397873304 | CASR | c.1012C= (p.His338=) c.529C= (p.His177=) c.424C= (p.His142=) | |
3 | g.122262047C>G | CA354152108 | CASR | c.1012C>G (p.His338Asp) c.529C>G (p.His177Asp) c.424C>G (p.His142Asp) | |
3 | g.122262047C>T | CA354152111 | CASR | c.1012C>T (p.His338Tyr) c.529C>T (p.His177Tyr) c.424C>T (p.His142Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262048A= | CA1397873305 | CASR | c.1013A= (p.His338=) c.530A= (p.His177=) c.425A= (p.His142=) | |
3 | g.122262048A>C | CA354152118 | CASR | c.1013A>C (p.His338Pro) c.530A>C (p.His177Pro) c.425A>C (p.His142Pro) | gnomAD v4 |
3 | g.122262048A>G | CA2569576 | CASR | c.1013A>G (p.His338Arg) c.530A>G (p.His177Arg) c.425A>G (p.His142Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262048A>T | CA354152114 | CASR | c.1013A>T (p.His338Leu) c.530A>T (p.His177Leu) c.425A>T (p.His142Leu) | |
3 | g.122262049T>A | CA354152123 | CASR | c.1014T>A (p.His338Gln) c.531T>A (p.His177Gln) c.426T>A (p.His142Gln) | |
3 | g.122262049T>C | CA435425009 | CASR | c.1014T>C (p.His338=) c.531T>C (p.His177=) c.426T>C (p.His142=) | ClinVar dbSNP |
3 | g.122262049T>G | CA354152126 | CASR | c.1014T>G (p.His338Gln) c.531T>G (p.His177Gln) c.426T>G (p.His142Gln) | |
3 | g.122262049T= | CA1397873307 | CASR | c.1014T= (p.His338=) c.531T= (p.His177=) c.426T= (p.His142=) | |
3 | g.122262050C>A | CA354152129 | CASR | c.1015C>A (p.Pro339Thr) c.532C>A (p.Pro178Thr) c.427C>A (p.Pro143Thr) | gnomAD v4 |
3 | g.122262050C>G | CA354152132 | CASR | c.1015C>G (p.Pro339Ala) c.532C>G (p.Pro178Ala) c.427C>G (p.Pro143Ala) | |
3 | g.122262050C>T | CA354152135 | CASR | c.1015C>T (p.Pro339Ser) c.532C>T (p.Pro178Ser) c.427C>T (p.Pro143Ser) | |
3 | g.122262051C>A | CA354152141 | CASR | c.1016C>A (p.Pro339His) c.533C>A (p.Pro178His) c.428C>A (p.Pro143His) | |
3 | g.122262051C= | CA1397873309 | CASR | c.1016C= (p.Pro339=) c.533C= (p.Pro178=) c.428C= (p.Pro143=) | |
3 | g.122262051C>G | CA354152136 | CASR | c.1016C>G (p.Pro339Arg) c.533C>G (p.Pro178Arg) c.428C>G (p.Pro143Arg) | ClinVar |
3 | g.122262051C>T | CA354152138 | CASR | c.1016C>T (p.Pro339Leu) c.533C>T (p.Pro178Leu) c.428C>T (p.Pro143Leu) | ClinVar dbSNP |
3 | g.122262052C>A | CA435425017 | CASR | c.1017C>A (p.Pro339=) c.534C>A (p.Pro178=) c.429C>A (p.Pro143=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262052C= | CA1397873311 | CASR | c.1017C= (p.Pro339=) c.534C= (p.Pro178=) c.429C= (p.Pro143=) | |
3 | g.122262052C>G | CA435425018 | CASR | c.1017C>G (p.Pro339=) c.534C>G (p.Pro178=) c.429C>G (p.Pro143=) | |
3 | g.122262052C>T | CA435425019 | CASR | c.1017C>T (p.Pro339=) c.534C>T (p.Pro178=) c.429C>T (p.Pro143=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262053A= | CA1397873313 | CASR | c.1018A= (p.Arg340=) c.535A= (p.Arg179=) c.430A= (p.Arg144=) | |
3 | g.122262053A>C | CA435425022 | CASR | c.1018A>C (p.Arg340=) c.535A>C (p.Arg179=) c.430A>C (p.Arg144=) | |
3 | g.122262053A>G | CA16611089 | CASR | c.1018A>G (p.Arg340Gly) c.535A>G (p.Arg179Gly) c.430A>G (p.Arg144Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.122262053A>T | CA354152145 | CASR | c.1018A>T (p.Arg340Trp) c.535A>T (p.Arg179Trp) c.430A>T (p.Arg144Trp) | |
3 | g.122262054G>A | CA2569577 | CASR | c.1019G>A (p.Arg340Lys) c.536G>A (p.Arg179Lys) c.431G>A (p.Arg144Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262054G>C | CA354152149 | CASR | c.1019G>C (p.Arg340Thr) c.536G>C (p.Arg179Thr) c.431G>C (p.Arg144Thr) | |
3 | g.122262054G= | CA1397873315 | CASR | c.1019G= (p.Arg340=) c.536G= (p.Arg179=) c.431G= (p.Arg144=) | |
3 | g.122262054G>T | CA82738770 | CASR | c.1019G>T (p.Arg340Met) c.536G>T (p.Arg179Met) c.431G>T (p.Arg144Met) | dbSNP |
3 | g.122262055G>A | CA2569578 | CASR | c.1020G>A (p.Arg340=) c.537G>A (p.Arg179=) c.432G>A (p.Arg144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122262055G>C | CA354152158 | CASR | c.1020G>C (p.Arg340Ser) c.537G>C (p.Arg179Ser) c.432G>C (p.Arg144Ser) | |
3 | g.122262055G= | CA1397873317 | CASR | c.1020G= (p.Arg340=) c.537G= (p.Arg179=) c.432G= (p.Arg144=) | |
3 | g.122262055G>T | CA354152155 | CASR | c.1020G>T (p.Arg340Ser) c.537G>T (p.Arg179Ser) c.432G>T (p.Arg144Ser) | COSMIC |
3 | g.122262056A>C | CA354152169 | CASR | c.1021A>C (p.Lys341Gln) c.538A>C (p.Lys180Gln) c.433A>C (p.Lys145Gln) | |
3 | g.122262056A>G | CA354152174 | CASR | c.1021A>G (p.Lys341Glu) c.538A>G (p.Lys180Glu) c.433A>G (p.Lys145Glu) | |
3 | g.122262056A>T | CA354152171 | CASR | c.1021A>T (p.Lys341Ter) c.538A>T (p.Lys180Ter) c.433A>T (p.Lys145Ter) | |
3 | g.122262057A= | CA1397873319 | CASR | c.1022A= (p.Lys341=) c.539A= (p.Lys180=) c.434A= (p.Lys145=) | |
3 | g.122262057A>C | CA354152178 | CASR | c.1022A>C (p.Lys341Thr) c.539A>C (p.Lys180Thr) c.434A>C (p.Lys145Thr) | |
3 | g.122262057A>G | CA354152181 | CASR | c.1022A>G (p.Lys341Arg) c.539A>G (p.Lys180Arg) c.434A>G (p.Lys145Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262057A>T | CA354152184 | CASR | c.1022A>T (p.Lys341Met) c.539A>T (p.Lys180Met) c.434A>T (p.Lys145Met) | gnomAD v4 |
3 | g.122262058G>A | CA435425028 | CASR | c.1023G>A (p.Lys341=) c.540G>A (p.Lys180=) c.435G>A (p.Lys145=) | |
3 | g.122262058G>C | CA354152187 | CASR | c.1023G>C (p.Lys341Asn) c.540G>C (p.Lys180Asn) c.435G>C (p.Lys145Asn) | |
3 | g.122262058G= | CA1397873321 | CASR | c.1023G= (p.Lys341=) c.540G= (p.Lys180=) c.435G= (p.Lys145=) | |
3 | g.122262058G>T | CA82738777 | CASR | c.1023G>T (p.Lys341Asn) c.540G>T (p.Lys180Asn) c.435G>T (p.Lys145Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262059T>A | CA354152193 | CASR | c.1024T>A (p.Ser342Thr) c.541T>A (p.Ser181Thr) c.436T>A (p.Ser146Thr) | |
3 | g.122262059T>C | CA354152195 | CASR | c.1024T>C (p.Ser342Pro) c.541T>C (p.Ser181Pro) c.436T>C (p.Ser146Pro) | ClinVar dbSNP |
3 | g.122262059T>G | CA354152197 | CASR | c.1024T>G (p.Ser342Ala) c.541T>G (p.Ser181Ala) c.436T>G (p.Ser146Ala) | |
3 | g.122262059T= | CA1397873323 | CASR | c.1024T= (p.Ser342=) c.541T= (p.Ser181=) c.436T= (p.Ser146=) | |
3 | g.122262060C>A | CA354152200 | CASR | c.1025C>A (p.Ser342Tyr) c.542C>A (p.Ser181Tyr) c.437C>A (p.Ser146Tyr) | |
3 | g.122262060C>G | CA354152203 | CASR | c.1025C>G (p.Ser342Cys) c.542C>G (p.Ser181Cys) c.437C>G (p.Ser146Cys) | |
3 | g.122262060C>T | CA354152205 | CASR | c.1025C>T (p.Ser342Phe) c.542C>T (p.Ser181Phe) c.437C>T (p.Ser146Phe) | COSMIC |
3 | g.122262061T>A | CA435425035 | CASR | c.1026T>A (p.Ser342=) c.543T>A (p.Ser181=) c.438T>A (p.Ser146=) | |
3 | g.122262061T>C | CA2569579 | CASR | c.1026T>C (p.Ser342=) c.543T>C (p.Ser181=) c.438T>C (p.Ser146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262061T>G | CA435425037 | CASR | c.1026T>G (p.Ser342=) c.543T>G (p.Ser181=) c.438T>G (p.Ser146=) | gnomAD v4 |
3 | g.122262061T= | CA1397873326 | CASR | c.1026T= (p.Ser342=) c.543T= (p.Ser181=) c.438T= (p.Ser146=) | |
3 | g.122262062G>A | CA2569580 | CASR | c.1027G>A (p.Val343Ile) c.544G>A (p.Val182Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262062G>C | CA354152210 | CASR | c.1027G>C (p.Val343Leu) c.544G>C (p.Val182Leu) c.439G>C (p.Val147Leu) | |
3 | g.122262062G= | CA1397873327 | CASR | c.1027G= (p.Val343=) c.544G= (p.Val182=) c.439G= (p.Val147=) | |
3 | g.122262062G>T | CA354152212 | CASR | c.1027G>T (p.Val343Phe) c.544G>T (p.Val182Phe) c.439G>T (p.Val147Phe) | |
3 | g.122262063T>A | CA354152216 | CASR | c.1028T>A (p.Val343Asp) c.545T>A (p.Val182Asp) c.440T>A (p.Val147Asp) | |
3 | g.122262063T>C | CA2569581 | CASR | c.1028T>C (p.Val343Ala) c.545T>C (p.Val182Ala) c.440T>C (p.Val147Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262063T>G | CA354152220 | CASR | c.1028T>G (p.Val343Gly) c.545T>G (p.Val182Gly) c.440T>G (p.Val147Gly) | |
3 | g.122262063T= | CA1397873329 | CASR | c.1028T= (p.Val343=) c.545T= (p.Val182=) c.440T= (p.Val147=) | |
3 | g.122262064C>A | CA435425042 | CASR | c.1029C>A (p.Val343=) c.546C>A (p.Val182=) c.441C>A (p.Val147=) | ClinVar gnomAD v4 |
3 | g.122262064C>G | CA435425045 | CASR | c.1029C>G (p.Val343=) c.546C>G (p.Val182=) c.441C>G (p.Val147=) | |
3 | g.122262064C>T | CA435425046 | CASR | c.1029C>T (p.Val343=) c.546C>T (p.Val182=) c.441C>T (p.Val147=) | |
3 | g.122262065C>A | CA354152225 | CASR | c.1030C>A (p.His344Asn) c.547C>A (p.His183Asn) c.442C>A (p.His148Asn) | |
3 | g.122262065C>G | CA354152228 | CASR | c.1030C>G (p.His344Asp) c.547C>G (p.His183Asp) c.442C>G (p.His148Asp) | |
3 | g.122262065C>T | CA354152230 | CASR | c.1030C>T (p.His344Tyr) c.547C>T (p.His183Tyr) c.442C>T (p.His148Tyr) | |
3 | g.122262065_122262068delinsCACA | CA1397873331 | CASR | c.1030_1033delinsCACA (p.His344=) c.547_550delinsCACA (p.His183=) c.442_445delinsCACA (p.His148=) | |
3 | g.122262066A>C | CA354152234 | CASR | c.1031A>C (p.His344Pro) c.548A>C (p.His183Pro) c.443A>C (p.His148Pro) | |
3 | g.122262066A>G | CA354152237 | CASR | c.1031A>G (p.His344Arg) c.548A>G (p.His183Arg) c.443A>G (p.His148Arg) | |
3 | g.122262066A>T | CA354152239 | CASR | c.1031A>T (p.His344Leu) c.548A>T (p.His183Leu) c.443A>T (p.His148Leu) | COSMIC |
3 | g.122262066_122262069delinsT | CA2586972807 | CASR | c.1031_1034delinsT (p.His344_Asn345delinsLeu) c.548_551delinsT (p.His183_Asn184delinsLeu) c.443_446delinsT (p.His148_Asn149delinsLeu) | |
3 | g.122262067_122262069del | CA1397873332 | CASR | c.1032_1034del (p.Asn345del) c.549_551del (p.Asn184del) c.444_446del (p.Asn149del) | dbSNP |
3 | g.122262067C>A | CA354152241 | CASR | c.1032C>A (p.His344Gln) c.549C>A (p.His183Gln) c.444C>A (p.His148Gln) | |
3 | g.122262067C>G | CA354152243 | CASR | c.1032C>G (p.His344Gln) c.549C>G (p.His183Gln) c.444C>G (p.His148Gln) | |
3 | g.122262067C>T | CA435425052 | CASR | c.1032C>T (p.His344=) c.549C>T (p.His183=) c.444C>T (p.His148=) | ClinVar dbSNP |
3 | g.122262068A= | CA1397873333 | CASR | c.1033A= (p.Asn345=) c.550A= (p.Asn184=) c.445A= (p.Asn149=) | |
3 | g.122262068A>C | CA354152249 | CASR | c.1033A>C (p.Asn345His) c.550A>C (p.Asn184His) c.445A>C (p.Asn149His) | |
3 | g.122262068A>G | CA2569582 | CASR | c.1033A>G (p.Asn345Asp) c.550A>G (p.Asn184Asp) c.445A>G (p.Asn149Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262068A>T | CA354152245 | CASR | c.1033A>T (p.Asn345Tyr) c.550A>T (p.Asn184Tyr) c.445A>T (p.Asn149Tyr) | |
3 | g.122262069A= | CA1397873335 | CASR | c.1034A= (p.Asn345=) c.551A= (p.Asn184=) c.446A= (p.Asn149=) | |
3 | g.122262069A>C | CA354152257 | CASR | c.1034A>C (p.Asn345Thr) c.551A>C (p.Asn184Thr) c.446A>C (p.Asn149Thr) | |
3 | g.122262069A>G | CA354152254 | CASR | c.1034A>G (p.Asn345Ser) c.551A>G (p.Asn184Ser) c.446A>G (p.Asn149Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262069A>T | CA354152256 | CASR | c.1034A>T (p.Asn345Ile) c.551A>T (p.Asn184Ile) c.446A>T (p.Asn149Ile) | ClinVar dbSNP |
3 | g.122262070T>A | CA354152260 | CASR | c.1035T>A (p.Asn345Lys) c.552T>A (p.Asn184Lys) c.447T>A (p.Asn149Lys) | |
3 | g.122262070T>C | CA435425060 | CASR | c.1035T>C (p.Asn345=) c.552T>C (p.Asn184=) c.447T>C (p.Asn149=) | |
3 | g.122262070T>G | CA2569583 | CASR | c.1035T>G (p.Asn345Lys) c.552T>G (p.Asn184Lys) c.447T>G (p.Asn149Lys) | dbSNP ExAC |
3 | g.122262070T= | CA1397873337 | CASR | c.1035T= (p.Asn345=) c.552T= (p.Asn184=) c.447T= (p.Asn149=) | |
3 | g.122262071G>A | CA354152273 | CASR | c.1036G>A (p.Gly346Ser) c.553G>A (p.Gly185Ser) c.448G>A (p.Gly150Ser) | |
3 | g.122262071G>C | CA354152275 | CASR | c.1036G>C (p.Gly346Arg) c.553G>C (p.Gly185Arg) c.448G>C (p.Gly150Arg) | ClinVar gnomAD v4 |
3 | g.122262071G>T | CA354152277 | CASR | c.1036G>T (p.Gly346Cys) c.553G>T (p.Gly185Cys) c.448G>T (p.Gly150Cys) | gnomAD v4 |
3 | g.122262072G>A | CA354152281 | CASR | c.1037G>A (p.Gly346Asp) c.554G>A (p.Gly185Asp) c.449G>A (p.Gly150Asp) | ClinVar dbSNP |
3 | g.122262072G>C | CA354152284 | CASR | c.1037G>C (p.Gly346Ala) c.554G>C (p.Gly185Ala) c.449G>C (p.Gly150Ala) | |
3 | g.122262072G>T | CA354152286 | CASR | c.1037G>T (p.Gly346Val) c.554G>T (p.Gly185Val) c.449G>T (p.Gly150Val) | |
3 | g.122262073T>A | CA435425063 | CASR | c.1038T>A (p.Gly346=) c.555T>A (p.Gly185=) c.450T>A (p.Gly150=) | |
3 | g.122262073T>C | CA435425067 | CASR | c.1038T>C (p.Gly346=) c.555T>C (p.Gly185=) c.450T>C (p.Gly150=) | |
3 | g.122262073T>G | CA435425065 | CASR | c.1038T>G (p.Gly346=) c.555T>G (p.Gly185=) c.450T>G (p.Gly150=) | |
3 | g.122262074T>A | CA354152290 | CASR | c.1039T>A (p.Phe347Ile) c.556T>A (p.Phe186Ile) c.451T>A (p.Phe151Ile) | |
3 | g.122262074T>C | CA354152292 | CASR | c.1039T>C (p.Phe347Leu) c.556T>C (p.Phe186Leu) c.451T>C (p.Phe151Leu) | |
3 | g.122262074T>G | CA354152294 | CASR | c.1039T>G (p.Phe347Val) c.556T>G (p.Phe186Val) c.451T>G (p.Phe151Val) | |
3 | g.122262075T>A | CA354152309 | CASR | c.1040T>A (p.Phe347Tyr) c.557T>A (p.Phe186Tyr) c.452T>A (p.Phe151Tyr) | |
3 | g.122262075T>C | CA354152298 | CASR | c.1040T>C (p.Phe347Ser) c.557T>C (p.Phe186Ser) c.452T>C (p.Phe151Ser) | |
3 | g.122262075T>G | CA354152306 | CASR | c.1040T>G (p.Phe347Cys) c.557T>G (p.Phe186Cys) c.452T>G (p.Phe151Cys) | |
3 | g.122262076T>A | CA354152313 | CASR | c.1041T>A (p.Phe347Leu) c.558T>A (p.Phe186Leu) c.453T>A (p.Phe151Leu) | |
3 | g.122262076T>C | CA435425072 | CASR | c.1041T>C (p.Phe347=) c.558T>C (p.Phe186=) c.453T>C (p.Phe151=) | dbSNP |
3 | g.122262076T>G | CA354152315 | CASR | c.1041T>G (p.Phe347Leu) c.558T>G (p.Phe186Leu) c.453T>G (p.Phe151Leu) | |
3 | g.122262077G>A | CA354152319 | CASR | c.1042G>A (p.Ala348Thr) c.559G>A (p.Ala187Thr) c.454G>A (p.Ala152Thr) | |
3 | g.122262077G>C | CA354152321 | CASR | c.1042G>C (p.Ala348Pro) c.559G>C (p.Ala187Pro) c.454G>C (p.Ala152Pro) | |
3 | g.122262077G>T | CA354152323 | CASR | c.1042G>T (p.Ala348Ser) c.559G>T (p.Ala187Ser) c.454G>T (p.Ala152Ser) | |
3 | g.122262078C>A | CA354152325 | CASR | c.1043C>A (p.Ala348Asp) c.560C>A (p.Ala187Asp) c.455C>A (p.Ala152Asp) | gnomAD v4 |
3 | g.122262078C= | CA1397873338 | CASR | c.1043C= (p.Ala348=) c.560C= (p.Ala187=) c.455C= (p.Ala152=) | |
3 | g.122262078C>G | CA354152331 | CASR | c.1043C>G (p.Ala348Gly) c.560C>G (p.Ala187Gly) c.455C>G (p.Ala152Gly) | |
3 | g.122262078C>T | CA354152335 | CASR | c.1043C>T (p.Ala348Val) c.560C>T (p.Ala187Val) c.455C>T (p.Ala152Val) | ClinVar dbSNP |
3 | g.122262078_122262079delinsAA | CA2573136451 | CASR | c.1043_1044delinsAA (p.Ala348Glu) c.560_561delinsAA (p.Ala187Glu) c.455_456delinsAA (p.Ala152Glu) | ClinVar dbSNP |
3 | g.122262079C>A | CA2569584 | CASR | c.1044C>A (p.Ala348=) c.561C>A (p.Ala187=) c.456C>A (p.Ala152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262079C= | CA1397873340 | CASR | c.1044C= (p.Ala348=) c.561C= (p.Ala187=) c.456C= (p.Ala152=) | |
3 | g.122262079C>G | CA435425077 | CASR | c.1044C>G (p.Ala348=) c.561C>G (p.Ala187=) c.456C>G (p.Ala152=) | |
3 | g.122262079C>T | CA435425079 | CASR | c.1044C>T (p.Ala348=) c.561C>T (p.Ala187=) c.456C>T (p.Ala152=) | ClinVar gnomAD v4 |
3 | g.122262080A= | CA1397873346 | CASR | c.1045A= (p.Lys349=) c.562A= (p.Lys188=) c.457A= (p.Lys153=) | |
3 | g.122262080A>C | CA354152341 | CASR | c.1045A>C (p.Lys349Gln) c.562A>C (p.Lys188Gln) c.457A>C (p.Lys153Gln) | |
3 | g.122262080A>G | CA354152344 | CASR | c.1045A>G (p.Lys349Glu) c.562A>G (p.Lys188Glu) c.457A>G (p.Lys153Glu) | ClinVar dbSNP |
3 | g.122262080A>T | CA354152346 | CASR | c.1045A>T (p.Lys349Ter) c.562A>T (p.Lys188Ter) c.457A>T (p.Lys153Ter) | |
3 | g.122262081A>C | CA354152354 | CASR | c.1046A>C (p.Lys349Thr) c.563A>C (p.Lys188Thr) c.458A>C (p.Lys153Thr) | |
3 | g.122262081A>G | CA354152357 | CASR | c.1046A>G (p.Lys349Arg) c.563A>G (p.Lys188Arg) c.458A>G (p.Lys153Arg) | |
3 | g.122262081A>T | CA354152352 | CASR | c.1046A>T (p.Lys349Met) c.563A>T (p.Lys188Met) c.458A>T (p.Lys153Met) | |
3 | g.122262083_122262085del | CA2667224937 | CASR | c.1048_1050del (p.Glu350del) c.565_567del (p.Glu189del) c.460_462del (p.Glu154del) | gnomAD v4 |
3 | g.122262082G>A | CA435425089 | CASR | c.1047G>A (p.Lys349=) c.564G>A (p.Lys188=) c.459G>A (p.Lys153=) | gnomAD v4 |
3 | g.122262082G>C | CA354152359 | CASR | c.1047G>C (p.Lys349Asn) c.564G>C (p.Lys188Asn) c.459G>C (p.Lys153Asn) | |
3 | g.122262082G>T | CA354152362 | CASR | c.1047G>T (p.Lys349Asn) c.564G>T (p.Lys188Asn) c.459G>T (p.Lys153Asn) | |
3 | g.122262083G>A | CA354152366 | CASR | c.1048G>A (p.Glu350Lys) c.565G>A (p.Glu189Lys) c.460G>A (p.Glu154Lys) | gnomAD v4 COSMIC |
3 | g.122262083G>C | CA354152369 | CASR | c.1048G>C (p.Glu350Gln) c.565G>C (p.Glu189Gln) c.460G>C (p.Glu154Gln) | gnomAD v4 |
3 | g.122262083G>T | CA354152371 | CASR | c.1048G>T (p.Glu350Ter) c.565G>T (p.Glu189Ter) c.460G>T (p.Glu154Ter) | ClinVar |
3 | g.122262084A>C | CA354152373 | CASR | c.1049A>C (p.Glu350Ala) c.566A>C (p.Glu189Ala) c.461A>C (p.Glu154Ala) | |
3 | g.122262084A>G | CA354152376 | CASR | c.1049A>G (p.Glu350Gly) c.566A>G (p.Glu189Gly) c.461A>G (p.Glu154Gly) | |
3 | g.122262084A>T | CA354152379 | CASR | c.1049A>T (p.Glu350Val) c.566A>T (p.Glu189Val) c.461A>T (p.Glu154Val) | COSMIC |
3 | g.122262085G>A | CA2569585 | CASR | c.1050G>A (p.Glu350=) c.567G>A (p.Glu189=) c.462G>A (p.Glu154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262085G>C | CA354152384 | CASR | c.1050G>C (p.Glu350Asp) c.567G>C (p.Glu189Asp) c.462G>C (p.Glu154Asp) | |
3 | g.122262085G= | CA1397873348 | CASR | c.1050G= (p.Glu350=) c.567G= (p.Glu189=) c.462G= (p.Glu154=) | |
3 | g.122262085G>T | CA354152387 | CASR | c.1050G>T (p.Glu350Asp) c.567G>T (p.Glu189Asp) c.462G>T (p.Glu154Asp) | |
3 | g.122262086T>A | CA354152390 | CASR | c.1051T>A (p.Phe351Ile) c.568T>A (p.Phe190Ile) c.463T>A (p.Phe155Ile) | |
3 | g.122262086T>C | CA354152393 | CASR | c.1051T>C (p.Phe351Leu) c.568T>C (p.Phe190Leu) c.463T>C (p.Phe155Leu) | |
3 | g.122262086T>G | CA354152396 | CASR | c.1051T>G (p.Phe351Val) c.568T>G (p.Phe190Val) c.463T>G (p.Phe155Val) | |
3 | g.122262089dup | CA645532162 | CASR | c.1054dup (p.Trp352LeufsTer6) c.571dup (p.Trp191LeufsTer6) c.466dup (p.Trp156LeufsTer6) | COSMIC |
3 | g.122262089del | CA2499216411 | CASR | c.1054del (p.Trp352GlyfsTer23) c.571del (p.Trp191GlyfsTer23) c.466del (p.Trp156GlyfsTer23) | ClinVar dbSNP |
3 | g.122262087T>A | CA354152405 | CASR | c.1052T>A (p.Phe351Tyr) c.569T>A (p.Phe190Tyr) c.464T>A (p.Phe155Tyr) | |
3 | g.122262087T>C | CA354152398 | CASR | c.1052T>C (p.Phe351Ser) c.569T>C (p.Phe190Ser) c.464T>C (p.Phe155Ser) | |
3 | g.122262087T>G | CA354152403 | CASR | c.1052T>G (p.Phe351Cys) c.569T>G (p.Phe190Cys) c.464T>G (p.Phe155Cys) | |
3 | g.122262088T>A | CA354152407 | CASR | c.1053T>A (p.Phe351Leu) c.570T>A (p.Phe190Leu) c.465T>A (p.Phe155Leu) | |
3 | g.122262088T>C | CA435425110 | CASR | c.1053T>C (p.Phe351=) c.570T>C (p.Phe190=) c.465T>C (p.Phe155=) | |
3 | g.122262088T>G | CA354152410 | CASR | c.1053T>G (p.Phe351Leu) c.570T>G (p.Phe190Leu) c.465T>G (p.Phe155Leu) | |
3 | g.122262089T>A | CA354152412 | CASR | c.1054T>A (p.Trp352Arg) c.571T>A (p.Trp191Arg) c.466T>A (p.Trp156Arg) | |
3 | g.122262089T>C | CA354152415 | CASR | c.1054T>C (p.Trp352Arg) c.571T>C (p.Trp191Arg) c.466T>C (p.Trp156Arg) | ClinVar dbSNP |
3 | g.122262089T>G | CA354152417 | CASR | c.1054T>G (p.Trp352Gly) c.571T>G (p.Trp191Gly) c.466T>G (p.Trp156Gly) | ClinVar |
3 | g.122262090G>A | CA354152419 | CASR | c.1055G>A (p.Trp352Ter) c.572G>A (p.Trp191Ter) c.467G>A (p.Trp156Ter) | |
3 | g.122262090G>C | CA354152422 | CASR | c.1055G>C (p.Trp352Ser) c.572G>C (p.Trp191Ser) c.467G>C (p.Trp156Ser) | |
3 | g.122262090G>T | CA354152425 | CASR | c.1055G>T (p.Trp352Leu) c.572G>T (p.Trp191Leu) c.467G>T (p.Trp156Leu) | |
3 | g.122262091G>A | CA354152428 | CASR | c.1056G>A (p.Trp352Ter) c.573G>A (p.Trp191Ter) c.468G>A (p.Trp156Ter) | ClinVar dbSNP |
3 | g.122262091G>C | CA354152431 | CASR | c.1056G>C (p.Trp352Cys) c.573G>C (p.Trp191Cys) c.468G>C (p.Trp156Cys) | |
3 | g.122262091G>T | CA354152433 | CASR | c.1056G>T (p.Trp352Cys) c.573G>T (p.Trp191Cys) c.468G>T (p.Trp156Cys) | |
3 | g.122262092G>A | CA354152439 | CASR | c.1057G>A (p.Glu353Lys) c.574G>A (p.Glu192Lys) c.469G>A (p.Glu157Lys) | COSMIC |
3 | g.122262092G>C | CA354152436 | CASR | c.1057G>C (p.Glu353Gln) c.574G>C (p.Glu192Gln) c.469G>C (p.Glu157Gln) | |
3 | g.122262092G>T | CA354152435 | CASR | c.1057G>T (p.Glu353Ter) c.574G>T (p.Glu192Ter) c.469G>T (p.Glu157Ter) | |
3 | g.122262093A= | CA1397873351 | CASR | c.1058A= (p.Glu353=) c.575A= (p.Glu192=) c.470A= (p.Glu157=) | |
3 | g.122262093A>C | CA213557 | CASR | c.1058A>C (p.Glu353Ala) c.575A>C (p.Glu192Ala) c.470A>C (p.Glu157Ala) | ClinVar dbSNP |
3 | g.122262093A>G | CA354152443 | CASR | c.1058A>G (p.Glu353Gly) c.575A>G (p.Glu192Gly) c.470A>G (p.Glu157Gly) | ClinVar |
3 | g.122262093A>T | CA354152445 | CASR | c.1058A>T (p.Glu353Val) c.575A>T (p.Glu192Val) c.470A>T (p.Glu157Val) | |
3 | g.122262094A>C | CA354152447 | CASR | c.1059A>C (p.Glu353Asp) c.576A>C (p.Glu192Asp) c.471A>C (p.Glu157Asp) | |
3 | g.122262094A>G | CA435425123 | CASR | c.1059A>G (p.Glu353=) c.576A>G (p.Glu192=) c.471A>G (p.Glu157=) | |
3 | g.122262094A>T | CA354152450 | CASR | c.1059A>T (p.Glu353Asp) c.576A>T (p.Glu192Asp) c.471A>T (p.Glu157Asp) | |
3 | g.122262095G>A | CA354152451 | CASR | c.1060G>A (p.Glu354Lys) c.577G>A (p.Glu193Lys) c.472G>A (p.Glu158Lys) | |
3 | g.122262095G>C | CA354152454 | CASR | c.1060G>C (p.Glu354Gln) c.577G>C (p.Glu193Gln) c.472G>C (p.Glu158Gln) | |
3 | g.122262095G>T | CA354152457 | CASR | c.1060G>T (p.Glu354Ter) c.577G>T (p.Glu193Ter) c.472G>T (p.Glu158Ter) | |
3 | g.122262096A>C | CA354152460 | CASR | c.1061A>C (p.Glu354Ala) c.578A>C (p.Glu193Ala) c.473A>C (p.Glu158Ala) | |
3 | g.122262096A>G | CA354152461 | CASR | c.1061A>G (p.Glu354Gly) c.578A>G (p.Glu193Gly) c.473A>G (p.Glu158Gly) | |
3 | g.122262096A>T | CA354152464 | CASR | c.1061A>T (p.Glu354Val) c.578A>T (p.Glu193Val) c.473A>T (p.Glu158Val) | |
3 | g.122262097A>C | CA354152467 | CASR | c.1062A>C (p.Glu354Asp) c.579A>C (p.Glu193Asp) c.474A>C (p.Glu158Asp) | |
3 | g.122262097A>G | CA435425129 | CASR | c.1062A>G (p.Glu354=) c.579A>G (p.Glu193=) c.474A>G (p.Glu158=) | ClinVar |
3 | g.122262097A>T | CA354152469 | CASR | c.1062A>T (p.Glu354Asp) c.579A>T (p.Glu193Asp) c.474A>T (p.Glu158Asp) | |
3 | g.122262098A= | CA1397873356 | CASR | c.1063A= (p.Thr355=) c.580A= (p.Thr194=) c.475A= (p.Thr159=) | |
3 | g.122262098A>C | CA354152477 | CASR | c.1063A>C (p.Thr355Pro) c.580A>C (p.Thr194Pro) c.475A>C (p.Thr159Pro) | |
3 | g.122262098A>G | CA354152473 | CASR | c.1063A>G (p.Thr355Ala) c.580A>G (p.Thr194Ala) c.475A>G (p.Thr159Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122262098A>T | CA354152475 | CASR | c.1063A>T (p.Thr355Ser) c.580A>T (p.Thr194Ser) c.475A>T (p.Thr159Ser) | |
3 | g.122262099C>A | CA354152481 | CASR | c.1064C>A (p.Thr355Lys) c.581C>A (p.Thr194Lys) c.476C>A (p.Thr159Lys) | |
3 | g.122262099C= | CA1397873360 | CASR | c.1064C= (p.Thr355=) c.581C= (p.Thr194=) c.476C= (p.Thr159=) | |
3 | g.122262099C>G | CA354152483 | CASR | c.1064C>G (p.Thr355Arg) c.581C>G (p.Thr194Arg) c.476C>G (p.Thr159Arg) | ClinVar |
3 | g.122262099C>T | CA82738822 | CASR | c.1064C>T (p.Thr355Ile) c.581C>T (p.Thr194Ile) c.476C>T (p.Thr159Ile) | dbSNP |
3 | g.122262100A>C | CA435425135 | CASR | c.1065A>C (p.Thr355=) c.582A>C (p.Thr194=) c.477A>C (p.Thr159=) | |
3 | g.122262100A>G | CA435425137 | CASR | c.1065A>G (p.Thr355=) c.582A>G (p.Thr194=) c.477A>G (p.Thr159=) | |
3 | g.122262100A>T | CA435425140 | CASR | c.1065A>T (p.Thr355=) c.582A>T (p.Thr194=) c.477A>T (p.Thr159=) | |
3 | g.122262101T>A | CA354152488 | CASR | c.1066T>A (p.Phe356Ile) c.583T>A (p.Phe195Ile) c.478T>A (p.Phe160Ile) | |
3 | g.122262101T>C | CA354152493 | CASR | c.1066T>C (p.Phe356Leu) c.583T>C (p.Phe195Leu) c.478T>C (p.Phe160Leu) | |
3 | g.122262101T>G | CA354152495 | CASR | c.1066T>G (p.Phe356Val) c.583T>G (p.Phe195Val) c.478T>G (p.Phe160Val) | |
3 | g.122262102T>A | CA354152498 | CASR | c.1067T>A (p.Phe356Tyr) c.584T>A (p.Phe195Tyr) c.479T>A (p.Phe160Tyr) | |
3 | g.122262102T>C | CA354152502 | CASR | c.1067T>C (p.Phe356Ser) c.584T>C (p.Phe195Ser) c.479T>C (p.Phe160Ser) | |
3 | g.122262102T>G | CA354152504 | CASR | c.1067T>G (p.Phe356Cys) c.584T>G (p.Phe195Cys) c.479T>G (p.Phe160Cys) | |
3 | g.122262103T>A | CA354152507 | CASR | c.1068T>A (p.Phe356Leu) c.585T>A (p.Phe195Leu) c.480T>A (p.Phe160Leu) | |
3 | g.122262103T>C | CA435425147 | CASR | c.1068T>C (p.Phe356=) c.585T>C (p.Phe195=) c.480T>C (p.Phe160=) | |
3 | g.122262103T>G | CA354152509 | CASR | c.1068T>G (p.Phe356Leu) c.585T>G (p.Phe195Leu) c.480T>G (p.Phe160Leu) | |
3 | g.122262104A= | CA1397873366 | CASR | c.1069A= (p.Asn357=) c.586A= (p.Asn196=) c.481A= (p.Asn161=) | |
3 | g.122262104A>C | CA354152512 | CASR | c.1069A>C (p.Asn357His) c.586A>C (p.Asn196His) c.481A>C (p.Asn161His) | |
3 | g.122262104A>G | CA354152510 | CASR | c.1069A>G (p.Asn357Asp) c.586A>G (p.Asn196Asp) c.481A>G (p.Asn161Asp) | |
3 | g.122262104A>T | CA216116 | CASR | c.1069A>T (p.Asn357Tyr) c.586A>T (p.Asn196Tyr) c.481A>T (p.Asn161Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.122262105A>C | CA354152514 | CASR | c.1070A>C (p.Asn357Thr) c.587A>C (p.Asn196Thr) c.482A>C (p.Asn161Thr) | |
3 | g.122262105A>G | CA354152517 | CASR | c.1070A>G (p.Asn357Ser) c.587A>G (p.Asn196Ser) c.482A>G (p.Asn161Ser) | |
3 | g.122262105A>T | CA354152516 | CASR | c.1070A>T (p.Asn357Ile) c.587A>T (p.Asn196Ile) c.482A>T (p.Asn161Ile) | |
3 | g.122262106C>A | CA354152519 | CASR | c.1071C>A (p.Asn357Lys) c.588C>A (p.Asn196Lys) c.483C>A (p.Asn161Lys) | |
3 | g.122262106C= | CA1397873369 | CASR | c.1071C= (p.Asn357=) c.588C= (p.Asn196=) c.483C= (p.Asn161=) | |
3 | g.122262106C>G | CA354152522 | CASR | c.1071C>G (p.Asn357Lys) c.588C>G (p.Asn196Lys) c.483C>G (p.Asn161Lys) | |
3 | g.122262106C>T | CA2569586 | CASR | c.1071C>T (p.Asn357=) c.588C>T (p.Asn196=) c.483C>T (p.Asn161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262107T>A | CA354152524 | CASR | c.1072T>A (p.Cys358Ser) c.589T>A (p.Cys197Ser) c.484T>A (p.Cys162Ser) | |
3 | g.122262107T>C | CA354152528 | CASR | c.1072T>C (p.Cys358Arg) c.589T>C (p.Cys197Arg) c.484T>C (p.Cys162Arg) | gnomAD v4 |
3 | g.122262107T>G | CA354152526 | CASR | c.1072T>G (p.Cys358Gly) c.589T>G (p.Cys197Gly) c.484T>G (p.Cys162Gly) | |
3 | g.122262108G>A | CA354152529 | CASR | c.1073G>A (p.Cys358Tyr) c.590G>A (p.Cys197Tyr) c.485G>A (p.Cys162Tyr) | |
3 | g.122262108G>C | CA354152530 | CASR | c.1073G>C (p.Cys358Ser) c.590G>C (p.Cys197Ser) c.485G>C (p.Cys162Ser) | |
3 | g.122262108G>T | CA354152531 | CASR | c.1073G>T (p.Cys358Phe) c.590G>T (p.Cys197Phe) c.485G>T (p.Cys162Phe) | |
3 | g.122262109C>A | CA354152532 | CASR | c.1074C>A (p.Cys358Ter) c.591C>A (p.Cys197Ter) c.486C>A (p.Cys162Ter) | |
3 | g.122262109C= | CA1397873373 | CASR | c.1074C= (p.Cys358=) c.591C= (p.Cys197=) c.486C= (p.Cys162=) | |
3 | g.122262109C>G | CA354152533 | CASR | c.1074C>G (p.Cys358Trp) c.591C>G (p.Cys197Trp) c.486C>G (p.Cys162Trp) | |
3 | g.122262109C>T | CA10606496 | CASR | c.1074C>T (p.Cys358=) c.591C>T (p.Cys197=) c.486C>T (p.Cys162=) | ClinVar dbSNP |
3 | g.122262110C>A | CA354152536 | CASR | c.1075C>A (p.His359Asn) c.592C>A (p.His198Asn) c.487C>A (p.His163Asn) | |
3 | g.122262110C= | CA1397873377 | CASR | c.1075C= (p.His359=) c.592C= (p.His198=) c.487C= (p.His163=) | |
3 | g.122262110C>G | CA354152534 | CASR | c.1075C>G (p.His359Asp) c.592C>G (p.His198Asp) c.487C>G (p.His163Asp) | |
3 | g.122262110C>T | CA354152535 | CASR | c.1075C>T (p.His359Tyr) c.592C>T (p.His198Tyr) c.487C>T (p.His163Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262111A= | CA1397873382 | CASR | c.1076A= (p.His359=) c.593A= (p.His198=) c.488A= (p.His163=) | |
3 | g.122262111A>C | CA354152537 | CASR | c.1076A>C (p.His359Pro) c.593A>C (p.His198Pro) c.488A>C (p.His163Pro) | |
3 | g.122262111A>G | CA354152538 | CASR | c.1076A>G (p.His359Arg) c.593A>G (p.His198Arg) c.488A>G (p.His163Arg) | ClinVar dbSNP |
3 | g.122262111A>T | CA354152539 | CASR | c.1076A>T (p.His359Leu) c.593A>T (p.His198Leu) c.488A>T (p.His163Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122262112C>A | CA354152540 | CASR | c.1077C>A (p.His359Gln) c.594C>A (p.His198Gln) c.489C>A (p.His163Gln) | |
3 | g.122262112C= | CA1397873388 | CASR | c.1077C= (p.His359=) c.594C= (p.His198=) c.489C= (p.His163=) | |
3 | g.122262112C>G | CA354152541 | CASR | c.1077C>G (p.His359Gln) c.594C>G (p.His198Gln) c.489C>G (p.His163Gln) | |
3 | g.122262112C>T | CA435425164 | CASR | c.1077C>T (p.His359=) c.594C>T (p.His198=) c.489C>T (p.His163=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262113dup | CA2840081049 | CASR | c.1078dup (p.Leu360ProfsTer26) c.595dup (p.Leu199ProfsTer26) c.490dup (p.Leu164ProfsTer26) | |
3 | g.122262113C>A | CA354152542 | CASR | c.1078C>A (p.Leu360Ile) c.595C>A (p.Leu199Ile) c.490C>A (p.Leu164Ile) | |
3 | g.122262113C= | CA1397873390 | CASR | c.1078C= (p.Leu360=) c.595C= (p.Leu199=) c.490C= (p.Leu164=) | |
3 | g.122262113C>G | CA354152543 | CASR | c.1078C>G (p.Leu360Val) c.595C>G (p.Leu199Val) c.490C>G (p.Leu164Val) | |
3 | g.122262113C>T | CA2569587 | CASR | c.1078C>T (p.Leu360Phe) c.595C>T (p.Leu199Phe) c.490C>T (p.Leu164Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262114T>A | CA354152544 | CASR | c.1079T>A (p.Leu360His) c.596T>A (p.Leu199His) c.491T>A (p.Leu164His) | |
3 | g.122262114T>C | CA354152545 | CASR | c.1079T>C (p.Leu360Pro) c.596T>C (p.Leu199Pro) c.491T>C (p.Leu164Pro) | |
3 | g.122262114T>G | CA354152546 | CASR | c.1079T>G (p.Leu360Arg) c.596T>G (p.Leu199Arg) c.491T>G (p.Leu164Arg) | |
3 | g.122262115C>A | CA435425168 | CASR | c.1080C>A (p.Leu360=) c.597C>A (p.Leu199=) c.492C>A (p.Leu164=) | ClinVar dbSNP |
3 | g.122262115C>G | CA435425173 | CASR | c.1080C>G (p.Leu360=) c.597C>G (p.Leu199=) c.492C>G (p.Leu164=) | ClinVar dbSNP |
3 | g.122262115C>T | CA435425172 | CASR | c.1080C>T (p.Leu360=) c.597C>T (p.Leu199=) c.492C>T (p.Leu164=) | |
3 | g.122262116C>A | CA354152547 | CASR | c.1081C>A (p.Gln361Lys) c.598C>A (p.Gln200Lys) c.493C>A (p.Gln165Lys) | |
3 | g.122262116C>G | CA354152548 | CASR | c.1081C>G (p.Gln361Glu) c.598C>G (p.Gln200Glu) c.493C>G (p.Gln165Glu) | |
3 | g.122262116C>T | CA354152549 | CASR | c.1081C>T (p.Gln361Ter) c.598C>T (p.Gln200Ter) c.493C>T (p.Gln165Ter) | ClinVar dbSNP |
3 | g.122262117A>C | CA354152550 | CASR | c.1082A>C (p.Gln361Pro) c.599A>C (p.Gln200Pro) c.494A>C (p.Gln165Pro) | |
3 | g.122262117A>G | CA354152551 | CASR | c.1082A>G (p.Gln361Arg) c.599A>G (p.Gln200Arg) c.494A>G (p.Gln165Arg) | |
3 | g.122262117A>T | CA354152552 | CASR | c.1082A>T (p.Gln361Leu) c.599A>T (p.Gln200Leu) c.494A>T (p.Gln165Leu) | |
3 | g.122262118A>C | CA354152553 | CASR | c.1083A>C (p.Gln361His) c.600A>C (p.Gln200His) c.495A>C (p.Gln165His) | |
3 | g.122262118A>G | CA435425183 | CASR | c.1083A>G (p.Gln361=) c.600A>G (p.Gln200=) c.495A>G (p.Gln165=) | ClinVar gnomAD v4 |
3 | g.122262118A>T | CA354152554 | CASR | c.1083A>T (p.Gln361His) c.600A>T (p.Gln200His) c.495A>T (p.Gln165His) | |
3 | g.122262119G>A | CA354152555 | CASR | c.1084G>A (p.Glu362Lys) c.601G>A (p.Glu201Lys) c.496G>A (p.Glu166Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122262119G>C | CA354152557 | CASR | c.1084G>C (p.Glu362Gln) c.601G>C (p.Glu201Gln) c.496G>C (p.Glu166Gln) | |
3 | g.122262119G>T | CA354152556 | CASR | c.1084G>T (p.Glu362Ter) c.601G>T (p.Glu201Ter) c.496G>T (p.Glu166Ter) | |
3 | g.122262120A>C | CA354152558 | CASR | c.1085A>C (p.Glu362Ala) c.602A>C (p.Glu201Ala) c.497A>C (p.Glu166Ala) | |
3 | g.122262120A>G | CA354152559 | CASR | c.1085A>G (p.Glu362Gly) c.602A>G (p.Glu201Gly) c.497A>G (p.Glu166Gly) | |
3 | g.122262120A>T | CA354152560 | CASR | c.1085A>T (p.Glu362Val) c.602A>T (p.Glu201Val) c.497A>T (p.Glu166Val) | |
3 | g.122262121A>C | CA354152561 | CASR | c.1086A>C (p.Glu362Asp) c.603A>C (p.Glu201Asp) c.498A>C (p.Glu166Asp) | dbSNP |
3 | g.122262121A>G | CA435425189 | CASR | c.1086A>G (p.Glu362=) c.603A>G (p.Glu201=) c.498A>G (p.Glu166=) | |
3 | g.122262121A>T | CA354152562 | CASR | c.1086A>T (p.Glu362Asp) c.603A>T (p.Glu201Asp) c.498A>T (p.Glu166Asp) | |
3 | g.122262122G>A | CA2569588 | CASR | c.1087G>A (p.Gly363Ser) c.604G>A (p.Gly202Ser) c.499G>A (p.Gly167Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262122G>C | CA354152563 | CASR | c.1087G>C (p.Gly363Arg) c.604G>C (p.Gly202Arg) c.499G>C (p.Gly167Arg) | |
3 | g.122262122G= | CA1397873393 | CASR | c.1087G= (p.Gly363=) c.604G= (p.Gly202=) c.499G= (p.Gly167=) | |
3 | g.122262122G>T | CA354152564 | CASR | c.1087G>T (p.Gly363Cys) c.604G>T (p.Gly202Cys) c.499G>T (p.Gly167Cys) | COSMIC |
3 | g.122262123G>A | CA354152565 | CASR | c.1088G>A (p.Gly363Asp) c.605G>A (p.Gly202Asp) c.500G>A (p.Gly167Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122262123G>C | CA354152566 | CASR | c.1088G>C (p.Gly363Ala) c.605G>C (p.Gly202Ala) c.500G>C (p.Gly167Ala) | |
3 | g.122262123G= | CA1397873398 | CASR | c.1088G= (p.Gly363=) c.605G= (p.Gly202=) c.500G= (p.Gly167=) | |
3 | g.122262123G>T | CA354152567 | CASR | c.1088G>T (p.Gly363Val) c.605G>T (p.Gly202Val) c.500G>T (p.Gly167Val) | |
3 | g.122262124T>A | CA435425192 | CASR | c.1089T>A (p.Gly363=) c.606T>A (p.Gly202=) c.501T>A (p.Gly167=) | |
3 | g.122262124T>C | CA435425193 | CASR | c.1089T>C (p.Gly363=) c.606T>C (p.Gly202=) c.501T>C (p.Gly167=) | |
3 | g.122262124T>G | CA435425195 | CASR | c.1089T>G (p.Gly363=) c.606T>G (p.Gly202=) c.501T>G (p.Gly167=) | |
3 | g.122262125G>A | CA354152570 | CASR | c.1090G>A (p.Ala364Thr) c.607G>A (p.Ala203Thr) c.502G>A (p.Ala168Thr) | dbSNP |
3 | g.122262125G>C | CA354152569 | CASR | c.1090G>C (p.Ala364Pro) c.607G>C (p.Ala203Pro) c.502G>C (p.Ala168Pro) | |
3 | g.122262125G>T | CA354152568 | CASR | c.1090G>T (p.Ala364Ser) c.607G>T (p.Ala203Ser) c.502G>T (p.Ala168Ser) | |
3 | g.122262126C>A | CA2569589 | CASR | c.1091C>A (p.Ala364Glu) c.608C>A (p.Ala203Glu) c.503C>A (p.Ala168Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262126C= | CA1397873403 | CASR | c.1091C= (p.Ala364=) c.608C= (p.Ala203=) c.503C= (p.Ala168=) | |
3 | g.122262126C>G | CA354152571 | CASR | c.1091C>G (p.Ala364Gly) c.608C>G (p.Ala203Gly) c.503C>G (p.Ala168Gly) | |
3 | g.122262126C>T | CA354152572 | CASR | c.1091C>T (p.Ala364Val) c.608C>T (p.Ala203Val) c.503C>T (p.Ala168Val) | ClinVar |
3 | g.122262127A>C | CA435425198 | CASR | c.1092A>C (p.Ala364=) c.609A>C (p.Ala203=) c.504A>C (p.Ala168=) | ClinVar dbSNP |
3 | g.122262127A>G | CA435425203 | CASR | c.1092A>G (p.Ala364=) c.609A>G (p.Ala203=) c.504A>G (p.Ala168=) | |
3 | g.122262127A>T | CA435425206 | CASR | c.1092A>T (p.Ala364=) c.609A>T (p.Ala203=) c.504A>T (p.Ala168=) | |
3 | g.122262128A>C | CA354152573 | CASR | c.1093A>C (p.Lys365Gln) c.610A>C (p.Lys204Gln) c.505A>C (p.Lys169Gln) | |
3 | g.122262128A>G | CA354152574 | CASR | c.1093A>G (p.Lys365Glu) c.610A>G (p.Lys204Glu) c.505A>G (p.Lys169Glu) | |
3 | g.122262128A>T | CA354152575 | CASR | c.1093A>T (p.Lys365Ter) c.610A>T (p.Lys204Ter) c.505A>T (p.Lys169Ter) | |
3 | g.122262129A>C | CA354152576 | CASR | c.1094A>C (p.Lys365Thr) c.611A>C (p.Lys204Thr) c.506A>C (p.Lys169Thr) | |
3 | g.122262129A>G | CA354152577 | CASR | c.1094A>G (p.Lys365Arg) c.611A>G (p.Lys204Arg) c.506A>G (p.Lys169Arg) | |
3 | g.122262129A>T | CA354152578 | CASR | c.1094A>T (p.Lys365Ile) c.611A>T (p.Lys204Ile) c.506A>T (p.Lys169Ile) | |
3 | g.122262130A>C | CA354152579 | CASR | c.1095A>C (p.Lys365Asn) c.612A>C (p.Lys204Asn) c.507A>C (p.Lys169Asn) | |
3 | g.122262130A>G | CA435425209 | CASR | c.1095A>G (p.Lys365=) c.612A>G (p.Lys204=) c.507A>G (p.Lys169=) | gnomAD v4 |
3 | g.122262130A>T | CA354152580 | CASR | c.1095A>T (p.Lys365Asn) c.612A>T (p.Lys204Asn) c.507A>T (p.Lys169Asn) | |
3 | g.122262131G>A | CA354152583 | CASR | c.1096G>A (p.Gly366Arg) c.613G>A (p.Gly205Arg) c.508G>A (p.Gly170Arg) | ClinVar dbSNP COSMIC |
3 | g.122262131G>C | CA354152582 | CASR | c.1096G>C (p.Gly366Arg) c.613G>C (p.Gly205Arg) c.508G>C (p.Gly170Arg) | |
3 | g.122262131G= | CA1397873407 | CASR | c.1096G= (p.Gly366=) c.613G= (p.Gly205=) c.508G= (p.Gly170=) | |
3 | g.122262131G>T | CA354152581 | CASR | c.1096G>T (p.Gly366Ter) c.613G>T (p.Gly205Ter) c.508G>T (p.Gly170Ter) | |
3 | g.122262132G>A | CA2569590 | CASR | c.1097G>A (p.Gly366Glu) c.614G>A (p.Gly205Glu) c.509G>A (p.Gly170Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262132G>C | CA354152585 | CASR | c.1097G>C (p.Gly366Ala) c.614G>C (p.Gly205Ala) c.509G>C (p.Gly170Ala) | |
3 | g.122262132G= | CA1397873410 | CASR | c.1097G= (p.Gly366=) c.614G= (p.Gly205=) c.509G= (p.Gly170=) | |
3 | g.122262132G>T | CA354152584 | CASR | c.1097G>T (p.Gly366Val) c.614G>T (p.Gly205Val) c.509G>T (p.Gly170Val) | ClinVar |
3 | g.122262133A>C | CA435425215 | CASR | c.1098A>C (p.Gly366=) c.615A>C (p.Gly205=) c.510A>C (p.Gly170=) | |
3 | g.122262133A>G | CA435425217 | CASR | c.1098A>G (p.Gly366=) c.615A>G (p.Gly205=) c.510A>G (p.Gly170=) | gnomAD v4 |
3 | g.122262133A>T | CA435425218 | CASR | c.1098A>T (p.Gly366=) c.615A>T (p.Gly205=) c.510A>T (p.Gly170=) | |
3 | g.122262134C>A | CA354152586 | CASR | c.1099C>A (p.Pro367Thr) c.616C>A (p.Pro206Thr) c.511C>A (p.Pro171Thr) | |
3 | g.122262134C= | CA1397873413 | CASR | c.1099C= (p.Pro367=) c.616C= (p.Pro206=) c.511C= (p.Pro171=) | |
3 | g.122262134C>G | CA354152587 | CASR | c.1099C>G (p.Pro367Ala) c.616C>G (p.Pro206Ala) c.511C>G (p.Pro171Ala) | |
3 | g.122262134C>T | CA2569591 | CASR | c.1099C>T (p.Pro367Ser) c.616C>T (p.Pro206Ser) c.511C>T (p.Pro171Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262135C>A | CA354152588 | CASR | c.1100C>A (p.Pro367His) c.617C>A (p.Pro206His) c.512C>A (p.Pro171His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262135C= | CA1397873416 | CASR | c.1100C= (p.Pro367=) c.617C= (p.Pro206=) c.512C= (p.Pro171=) | |
3 | g.122262135C>G | CA354152589 | CASR | c.1100C>G (p.Pro367Arg) c.617C>G (p.Pro206Arg) c.512C>G (p.Pro171Arg) | |
3 | g.122262135C>T | CA354152590 | CASR | c.1100C>T (p.Pro367Leu) c.617C>T (p.Pro206Leu) c.512C>T (p.Pro171Leu) | ClinVar gnomAD v4 |
3 | g.122262136T>A | CA435425231 | CASR | c.1101T>A (p.Pro367=) c.618T>A (p.Pro206=) c.513T>A (p.Pro171=) | |
3 | g.122262136T>C | CA435425226 | CASR | c.1101T>C (p.Pro367=) c.618T>C (p.Pro206=) c.513T>C (p.Pro171=) | |
3 | g.122262136T>G | CA435425229 | CASR | c.1101T>G (p.Pro367=) c.618T>G (p.Pro206=) c.513T>G (p.Pro171=) | |
3 | g.122262137T>A | CA354152591 | CASR | c.1102T>A (p.Leu368Ile) c.619T>A (p.Leu207Ile) c.514T>A (p.Leu172Ile) | |
3 | g.122262137T>C | CA435425232 | CASR | c.1102T>C (p.Leu368=) c.619T>C (p.Leu207=) c.514T>C (p.Leu172=) | |
3 | g.122262137T>G | CA354152592 | CASR | c.1102T>G (p.Leu368Val) c.619T>G (p.Leu207Val) c.514T>G (p.Leu172Val) | |
3 | g.122262138T>A | CA354152593 | CASR | c.1103T>A (p.Leu368Ter) c.620T>A (p.Leu207Ter) c.515T>A (p.Leu172Ter) | |
3 | g.122262138T>C | CA354152594 | CASR | c.1103T>C (p.Leu368Ser) c.620T>C (p.Leu207Ser) c.515T>C (p.Leu172Ser) | ClinVar dbSNP |
3 | g.122262138T>G | CA354152595 | CASR | c.1103T>G (p.Leu368Ter) c.620T>G (p.Leu207Ter) c.515T>G (p.Leu172Ter) | ClinVar |
3 | g.122262138T= | CA1397873420 | CASR | c.1103T= (p.Leu368=) c.620T= (p.Leu207=) c.515T= (p.Leu172=) | |
3 | g.122262139A>C | CA354152597 | CASR | c.1104A>C (p.Leu368Phe) c.621A>C (p.Leu207Phe) c.516A>C (p.Leu172Phe) | |
3 | g.122262139A>G | CA435425240 | CASR | c.1104A>G (p.Leu368=) c.621A>G (p.Leu207=) c.516A>G (p.Leu172=) | |
3 | g.122262139A>T | CA354152596 | CASR | c.1104A>T (p.Leu368Phe) c.621A>T (p.Leu207Phe) c.516A>T (p.Leu172Phe) | |
3 | g.122262139_122262140del | CA2586972808 | CASR | c.1104_1105del (p.Leu368PhefsTer17) c.621_622del (p.Leu207PhefsTer17) c.516_517del (p.Leu172PhefsTer17) | |
3 | g.122262140C>A | CA354152598 | CASR | c.1105C>A (p.Pro369Thr) c.622C>A (p.Pro208Thr) c.517C>A (p.Pro173Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262140C= | CA1397873426 | CASR | c.1105C= (p.Pro369=) c.622C= (p.Pro208=) c.517C= (p.Pro173=) | |
3 | g.122262140C>G | CA354152599 | CASR | c.1105C>G (p.Pro369Ala) c.622C>G (p.Pro208Ala) c.517C>G (p.Pro173Ala) | |
3 | g.122262140C>T | CA354152600 | CASR | c.1105C>T (p.Pro369Ser) c.622C>T (p.Pro208Ser) c.517C>T (p.Pro173Ser) | ClinVar dbSNP |
3 | g.122262141C>A | CA354152601 | CASR | c.1106C>A (p.Pro369His) c.623C>A (p.Pro208His) c.518C>A (p.Pro173His) | |
3 | g.122262141C>G | CA354152602 | CASR | c.1106C>G (p.Pro369Arg) c.623C>G (p.Pro208Arg) c.518C>G (p.Pro173Arg) | gnomAD v4 |
3 | g.122262141C>T | CA354152603 | CASR | c.1106C>T (p.Pro369Leu) c.623C>T (p.Pro208Leu) c.518C>T (p.Pro173Leu) | |
3 | g.122262142T>A | CA2569592 | CASR | c.1107T>A (p.Pro369=) c.624T>A (p.Pro208=) c.519T>A (p.Pro173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262142T>C | CA82738862 | CASR | c.1107T>C (p.Pro369=) c.624T>C (p.Pro208=) c.519T>C (p.Pro173=) | dbSNP |
3 | g.122262142T>G | CA435425247 | CASR | c.1107T>G (p.Pro369=) c.624T>G (p.Pro208=) c.519T>G (p.Pro173=) | |
3 | g.122262142T= | CA1397873433 | CASR | c.1107T= (p.Pro369=) c.624T= (p.Pro208=) c.519T= (p.Pro173=) | |
3 | g.122262143G>A | CA354152604 | CASR | c.1108G>A (p.Val370Met) c.625G>A (p.Val209Met) c.520G>A (p.Val174Met) | ClinVar dbSNP |
3 | g.122262143G>C | CA354152605 | CASR | c.1108G>C (p.Val370Leu) c.625G>C (p.Val209Leu) c.520G>C (p.Val174Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122262143G= | CA1397873437 | CASR | c.1108G= (p.Val370=) c.625G= (p.Val209=) c.520G= (p.Val174=) | |
3 | g.122262143G>T | CA354152606 | CASR | c.1108G>T (p.Val370Leu) c.625G>T (p.Val209Leu) c.520G>T (p.Val174Leu) |