Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.122262144T>A | CA354152608 | CASR | c.1109T>A (p.Val370Glu) c.626T>A (p.Val209Glu) c.521T>A (p.Val174Glu) | |
3 | g.122262144T>C | CA354152609 | CASR | c.1109T>C (p.Val370Ala) c.626T>C (p.Val209Ala) c.521T>C (p.Val174Ala) | ClinVar |
3 | g.122262144T>G | CA354152607 | CASR | c.1109T>G (p.Val370Gly) c.626T>G (p.Val209Gly) c.521T>G (p.Val174Gly) | |
3 | g.122262145G>A | CA2569593 | CASR | c.1110G>A (p.Val370=) c.627G>A (p.Val209=) c.522G>A (p.Val174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262145G>C | CA435425254 | CASR | c.1110G>C (p.Val370=) c.627G>C (p.Val209=) c.522G>C (p.Val174=) | |
3 | g.122262145G= | CA1397873445 | CASR | c.1110G= (p.Val370=) c.627G= (p.Val209=) c.522G= (p.Val174=) | |
3 | g.122262145G>T | CA435425255 | CASR | c.1110G>T (p.Val370=) c.627G>T (p.Val209=) c.522G>T (p.Val174=) | |
3 | g.122262146G>A | CA2569594 | CASR | c.1111G>A (p.Asp371Asn) c.628G>A (p.Asp210Asn) c.523G>A (p.Asp175Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262146G>C | CA354152610 | CASR | c.1111G>C (p.Asp371His) c.628G>C (p.Asp210His) c.523G>C (p.Asp175His) | |
3 | g.122262146G= | CA1397873449 | CASR | c.1111G= (p.Asp371=) c.628G= (p.Asp210=) c.523G= (p.Asp175=) | |
3 | g.122262146G>T | CA354152611 | CASR | c.1111G>T (p.Asp371Tyr) c.628G>T (p.Asp210Tyr) c.523G>T (p.Asp175Tyr) | gnomAD v4 |
3 | g.122262147A>C | CA354152612 | CASR | c.1112A>C (p.Asp371Ala) c.629A>C (p.Asp210Ala) c.524A>C (p.Asp175Ala) | |
3 | g.122262147A>G | CA354152613 | CASR | c.1112A>G (p.Asp371Gly) c.629A>G (p.Asp210Gly) c.524A>G (p.Asp175Gly) | gnomAD v4 |
3 | g.122262147A>T | CA354152614 | CASR | c.1112A>T (p.Asp371Val) c.629A>T (p.Asp210Val) c.524A>T (p.Asp175Val) | |
3 | g.122262148C>A | CA354152615 | CASR | c.1113C>A (p.Asp371Glu) c.630C>A (p.Asp210Glu) c.525C>A (p.Asp175Glu) | |
3 | g.122262148C= | CA1397873450 | CASR | c.1113C= (p.Asp371=) c.630C= (p.Asp210=) c.525C= (p.Asp175=) | |
3 | g.122262148C>G | CA354152616 | CASR | c.1113C>G (p.Asp371Glu) c.630C>G (p.Asp210Glu) c.525C>G (p.Asp175Glu) | |
3 | g.122262148C>T | CA435424498 | CASR | c.1113C>T (p.Asp371=) c.630C>T (p.Asp210=) c.525C>T (p.Asp175=) | ClinVar dbSNP |
3 | g.122262149A= | CA1397873452 | CASR | c.1114A= (p.Thr372=) c.631A= (p.Thr211=) c.526A= (p.Thr176=) | |
3 | g.122262149A>C | CA354152617 | CASR | c.1114A>C (p.Thr372Pro) c.631A>C (p.Thr211Pro) c.526A>C (p.Thr176Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122262149A>G | CA2569595 | CASR | c.1114A>G (p.Thr372Ala) c.631A>G (p.Thr211Ala) c.526A>G (p.Thr176Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262149A>T | CA354152618 | CASR | c.1114A>T (p.Thr372Ser) c.631A>T (p.Thr211Ser) c.526A>T (p.Thr176Ser) | |
3 | g.122262149dup | CA2740094565 | CASR | c.1114dup (p.Thr372AsnfsTer14) c.631dup (p.Thr211AsnfsTer14) c.526dup (p.Thr176AsnfsTer14) | ClinVar |
3 | g.122262150C>A | CA354152621 | CASR | c.1115C>A (p.Thr372Asn) c.632C>A (p.Thr211Asn) c.527C>A (p.Thr176Asn) | ClinVar dbSNP |
3 | g.122262150C= | CA1397873455 | CASR | c.1115C= (p.Thr372=) c.632C= (p.Thr211=) c.527C= (p.Thr176=) | |
3 | g.122262150C>G | CA354152619 | CASR | c.1115C>G (p.Thr372Ser) c.632C>G (p.Thr211Ser) c.527C>G (p.Thr176Ser) | |
3 | g.122262150C>T | CA354152620 | CASR | c.1115C>T (p.Thr372Ile) c.632C>T (p.Thr211Ile) c.527C>T (p.Thr176Ile) | ClinVar dbSNP |
3 | g.122262151C>A | CA435424503 | CASR | c.1116C>A (p.Thr372=) c.633C>A (p.Thr211=) c.528C>A (p.Thr176=) | |
3 | g.122262151C= | CA1397873459 | CASR | c.1116C= (p.Thr372=) c.633C= (p.Thr211=) c.528C= (p.Thr176=) | |
3 | g.122262151C>G | CA2569597 | CASR | c.1116C>G (p.Thr372=) c.633C>G (p.Thr211=) c.528C>G (p.Thr176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262151C>T | CA2569596 | CASR | c.1116C>T (p.Thr372=) c.633C>T (p.Thr211=) c.528C>T (p.Thr176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262152T>A | CA354152622 | CASR | c.1117T>A (p.Phe373Ile) c.634T>A (p.Phe212Ile) c.529T>A (p.Phe177Ile) | |
3 | g.122262152T>C | CA354152623 | CASR | c.1117T>C (p.Phe373Leu) c.634T>C (p.Phe212Leu) c.529T>C (p.Phe177Leu) | |
3 | g.122262152T>G | CA354152624 | CASR | c.1117T>G (p.Phe373Val) c.634T>G (p.Phe212Val) c.529T>G (p.Phe177Val) | |
3 | g.122262153T>A | CA354152625 | CASR | c.1118T>A (p.Phe373Tyr) c.635T>A (p.Phe212Tyr) c.530T>A (p.Phe177Tyr) | |
3 | g.122262153T>C | CA354152626 | CASR | c.1118T>C (p.Phe373Ser) c.635T>C (p.Phe212Ser) c.530T>C (p.Phe177Ser) | |
3 | g.122262153T>G | CA354152627 | CASR | c.1118T>G (p.Phe373Cys) c.635T>G (p.Phe212Cys) c.530T>G (p.Phe177Cys) | |
3 | g.122262154T>A | CA354152628 | CASR | c.1119T>A (p.Phe373Leu) c.636T>A (p.Phe212Leu) c.531T>A (p.Phe177Leu) | |
3 | g.122262154T>C | CA2569598 | CASR | c.1119T>C (p.Phe373=) c.636T>C (p.Phe212=) c.531T>C (p.Phe177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262154T>G | CA354152629 | CASR | c.1119T>G (p.Phe373Leu) c.636T>G (p.Phe212Leu) c.531T>G (p.Phe177Leu) | |
3 | g.122262154T= | CA1397873464 | CASR | c.1119T= (p.Phe373=) c.636T= (p.Phe212=) c.531T= (p.Phe177=) | |
3 | g.122262155_122262156del | CA2577870023 | CASR | c.1120_1121del (p.Leu374GlufsTer11) c.637_638del (p.Leu213GlufsTer11) c.532_533del (p.Leu178GlufsTer11) | |
3 | g.122262155C>A | CA354152630 | CASR | c.1120C>A (p.Leu374Met) c.637C>A (p.Leu213Met) c.532C>A (p.Leu178Met) | |
3 | g.122262155C>G | CA354152631 | CASR | c.1120C>G (p.Leu374Val) c.637C>G (p.Leu213Val) c.532C>G (p.Leu178Val) | |
3 | g.122262155C>T | CA435424508 | CASR | c.1120C>T (p.Leu374=) c.637C>T (p.Leu213=) c.532C>T (p.Leu178=) | |
3 | g.122262156T>A | CA354152633 | CASR | c.1121T>A (p.Leu374Gln) c.638T>A (p.Leu213Gln) c.533T>A (p.Leu178Gln) | |
3 | g.122262156T>C | CA354152634 | CASR | c.1121T>C (p.Leu374Pro) c.638T>C (p.Leu213Pro) c.533T>C (p.Leu178Pro) | |
3 | g.122262156T>G | CA354152632 | CASR | c.1121T>G (p.Leu374Arg) c.638T>G (p.Leu213Arg) c.533T>G (p.Leu178Arg) | |
3 | g.122262157G>A | CA435424509 | CASR | c.1122G>A (p.Leu374=) c.639G>A (p.Leu213=) c.534G>A (p.Leu178=) | ClinVar gnomAD v4 |
3 | g.122262157G>C | CA435424510 | CASR | c.1122G>C (p.Leu374=) c.639G>C (p.Leu213=) c.534G>C (p.Leu178=) | |
3 | g.122262157G>T | CA435424511 | CASR | c.1122G>T (p.Leu374=) c.639G>T (p.Leu213=) c.534G>T (p.Leu178=) | |
3 | g.122262158A>C | CA435424514 | CASR | c.1123A>C (p.Arg375=) c.640A>C (p.Arg214=) c.535A>C (p.Arg179=) | |
3 | g.122262158A>G | CA354152636 | CASR | c.1123A>G (p.Arg375Gly) c.640A>G (p.Arg214Gly) c.535A>G (p.Arg179Gly) | |
3 | g.122262158A>T | CA354152635 | CASR | c.1123A>T (p.Arg375Ter) c.640A>T (p.Arg214Ter) c.535A>T (p.Arg179Ter) | |
3 | g.122262159G>A | CA2569599 | CASR | c.1124G>A (p.Arg375Lys) c.641G>A (p.Arg214Lys) c.536G>A (p.Arg179Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262159G>C | CA354152637 | CASR | c.1124G>C (p.Arg375Thr) c.641G>C (p.Arg214Thr) c.536G>C (p.Arg179Thr) | ClinVar |
3 | g.122262159G= | CA1397873471 | CASR | c.1124G= (p.Arg375=) c.641G= (p.Arg214=) c.536G= (p.Arg179=) | |
3 | g.122262159G>T | CA354152638 | CASR | c.1124G>T (p.Arg375Ile) c.641G>T (p.Arg214Ile) c.536G>T (p.Arg179Ile) | ClinVar dbSNP |
3 | g.122262160A>C | CA354152639 | CASR | c.1125A>C (p.Arg375Ser) c.642A>C (p.Arg214Ser) c.537A>C (p.Arg179Ser) | |
3 | g.122262160A>G | CA435424516 | CASR | c.1125A>G (p.Arg375=) c.642A>G (p.Arg214=) c.537A>G (p.Arg179=) | |
3 | g.122262160A>T | CA354152640 | CASR | c.1125A>T (p.Arg375Ser) c.642A>T (p.Arg214Ser) c.537A>T (p.Arg179Ser) | |
3 | g.122262161G>A | CA354152641 | CASR | c.1126G>A (p.Gly376Ser) c.643G>A (p.Gly215Ser) c.538G>A (p.Gly180Ser) | ClinVar dbSNP |
3 | g.122262161G>C | CA354152642 | CASR | c.1126G>C (p.Gly376Arg) c.643G>C (p.Gly215Arg) c.538G>C (p.Gly180Arg) | |
3 | g.122262161G>T | CA354152643 | CASR | c.1126G>T (p.Gly376Cys) c.643G>T (p.Gly215Cys) c.538G>T (p.Gly180Cys) | |
3 | g.122262162G>A | CA354152644 | CASR | c.1127G>A (p.Gly376Asp) c.644G>A (p.Gly215Asp) c.539G>A (p.Gly180Asp) | ClinVar COSMIC |
3 | g.122262162G>C | CA354152645 | CASR | c.1127G>C (p.Gly376Ala) c.644G>C (p.Gly215Ala) c.539G>C (p.Gly180Ala) | |
3 | g.122262162G= | CA1397873479 | CASR | c.1127G= (p.Gly376=) c.644G= (p.Gly215=) c.539G= (p.Gly180=) | |
3 | g.122262162G>T | CA354152646 | CASR | c.1127G>T (p.Gly376Val) c.644G>T (p.Gly215Val) c.539G>T (p.Gly180Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122262163T>A | CA435424522 | CASR | c.1128T>A (p.Gly376=) c.645T>A (p.Gly215=) c.540T>A (p.Gly180=) | |
3 | g.122262163T>C | CA435424524 | CASR | c.1128T>C (p.Gly376=) c.645T>C (p.Gly215=) c.540T>C (p.Gly180=) | |
3 | g.122262163T>G | CA435424523 | CASR | c.1128T>G (p.Gly376=) c.645T>G (p.Gly215=) c.540T>G (p.Gly180=) | |
3 | g.122262164C>A | CA354152647 | CASR | c.1129C>A (p.His377Asn) c.646C>A (p.His216Asn) c.541C>A (p.His181Asn) | |
3 | g.122262164C>G | CA354152648 | CASR | c.1129C>G (p.His377Asp) c.646C>G (p.His216Asp) c.541C>G (p.His181Asp) | |
3 | g.122262164C>T | CA354152649 | CASR | c.1129C>T (p.His377Tyr) c.646C>T (p.His216Tyr) c.541C>T (p.His181Tyr) | |
3 | g.122262165A>C | CA354152652 | CASR | c.1130A>C (p.His377Pro) c.647A>C (p.His216Pro) c.542A>C (p.His181Pro) | |
3 | g.122262165A>G | CA354152650 | CASR | c.1130A>G (p.His377Arg) c.647A>G (p.His216Arg) c.542A>G (p.His181Arg) | |
3 | g.122262165A>T | CA354152651 | CASR | c.1130A>T (p.His377Leu) c.647A>T (p.His216Leu) c.542A>T (p.His181Leu) | |
3 | g.122262166C>A | CA354152653 | CASR | c.1131C>A (p.His377Gln) c.648C>A (p.His216Gln) c.543C>A (p.His181Gln) | |
3 | g.122262166C= | CA1397873485 | CASR | c.1131C= (p.His377=) c.648C= (p.His216=) c.543C= (p.His181=) | |
3 | g.122262166C>G | CA354152654 | CASR | c.1131C>G (p.His377Gln) c.648C>G (p.His216Gln) c.543C>G (p.His181Gln) | |
3 | g.122262166C>T | CA2569600 | CASR | c.1131C>T (p.His377=) c.648C>T (p.His216=) c.543C>T (p.His181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262167G>A | CA82738897 | CASR | c.1132G>A (p.Glu378Lys) c.649G>A (p.Glu217Lys) c.544G>A (p.Glu182Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122262167G>C | CA354152655 | CASR | c.1132G>C (p.Glu378Gln) c.649G>C (p.Glu217Gln) c.544G>C (p.Glu182Gln) | |
3 | g.122262167G= | CA1397873488 | CASR | c.1132G= (p.Glu378=) c.649G= (p.Glu217=) c.544G= (p.Glu182=) | |
3 | g.122262167G>T | CA354152656 | CASR | c.1132G>T (p.Glu378Ter) c.649G>T (p.Glu217Ter) c.544G>T (p.Glu182Ter) | |
3 | g.122262168A>C | CA354152657 | CASR | c.1133A>C (p.Glu378Ala) c.650A>C (p.Glu217Ala) c.545A>C (p.Glu182Ala) | |
3 | g.122262168A>G | CA354152658 | CASR | c.1133A>G (p.Glu378Gly) c.650A>G (p.Glu217Gly) c.545A>G (p.Glu182Gly) | |
3 | g.122262168A>T | CA354152659 | CASR | c.1133A>T (p.Glu378Val) c.650A>T (p.Glu217Val) c.545A>T (p.Glu182Val) | |
3 | g.122262169A= | CA1397873490 | CASR | c.1134A= (p.Glu378=) c.651A= (p.Glu217=) c.546A= (p.Glu182=) | |
3 | g.122262169A>C | CA354152660 | CASR | c.1134A>C (p.Glu378Asp) c.651A>C (p.Glu217Asp) c.546A>C (p.Glu182Asp) | |
3 | g.122262169A>G | CA435424527 | CASR | c.1134A>G (p.Glu378=) c.651A>G (p.Glu217=) c.546A>G (p.Glu182=) | |
3 | g.122262169A>T | CA354152661 | CASR | c.1134A>T (p.Glu378Asp) c.651A>T (p.Glu217Asp) c.546A>T (p.Glu182Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262170G>A | CA354152664 | CASR | c.1135G>A (p.Glu379Lys) c.652G>A (p.Glu218Lys) c.547G>A (p.Glu183Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122262170G>C | CA354152663 | CASR | c.1135G>C (p.Glu379Gln) c.652G>C (p.Glu218Gln) c.547G>C (p.Glu183Gln) | |
3 | g.122262170G= | CA1397873492 | CASR | c.1135G= (p.Glu379=) c.652G= (p.Glu218=) c.547G= (p.Glu183=) | |
3 | g.122262170G>T | CA354152662 | CASR | c.1135G>T (p.Glu379Ter) c.652G>T (p.Glu218Ter) c.547G>T (p.Glu183Ter) | |
3 | g.122262171A>C | CA354152665 | CASR | c.1136A>C (p.Glu379Ala) c.653A>C (p.Glu218Ala) c.548A>C (p.Glu183Ala) | |
3 | g.122262171A>G | CA354152666 | CASR | c.1136A>G (p.Glu379Gly) c.653A>G (p.Glu218Gly) c.548A>G (p.Glu183Gly) | |
3 | g.122262171A>T | CA354152667 | CASR | c.1136A>T (p.Glu379Val) c.653A>T (p.Glu218Val) c.548A>T (p.Glu183Val) | |
3 | g.122262172A>C | CA354152668 | CASR | c.1137A>C (p.Glu379Asp) c.654A>C (p.Glu218Asp) c.549A>C (p.Glu183Asp) | |
3 | g.122262172A>G | CA435424529 | CASR | c.1137A>G (p.Glu379=) c.654A>G (p.Glu218=) c.549A>G (p.Glu183=) | |
3 | g.122262172A>T | CA354152669 | CASR | c.1137A>T (p.Glu379Asp) c.654A>T (p.Glu218Asp) c.549A>T (p.Glu183Asp) | |
3 | g.122262173A= | CA1397873497 | CASR | c.1138A= (p.Ser380=) c.655A= (p.Ser219=) c.550A= (p.Ser184=) | |
3 | g.122262173A>C | CA354152670 | CASR | c.1138A>C (p.Ser380Arg) c.655A>C (p.Ser219Arg) c.550A>C (p.Ser184Arg) | |
3 | g.122262173A>G | CA354152671 | CASR | c.1138A>G (p.Ser380Gly) c.655A>G (p.Ser219Gly) c.550A>G (p.Ser184Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.122262173A>T | CA354152672 | CASR | c.1138A>T (p.Ser380Cys) c.655A>T (p.Ser219Cys) c.550A>T (p.Ser184Cys) | ClinVar dbSNP |
3 | g.122262174G>A | CA354152673 | CASR | c.1139G>A (p.Ser380Asn) c.656G>A (p.Ser219Asn) c.551G>A (p.Ser184Asn) | |
3 | g.122262174G>C | CA354152674 | CASR | c.1139G>C (p.Ser380Thr) c.656G>C (p.Ser219Thr) c.551G>C (p.Ser184Thr) | |
3 | g.122262174G>T | CA354152675 | CASR | c.1139G>T (p.Ser380Ile) c.656G>T (p.Ser219Ile) c.551G>T (p.Ser184Ile) | |
3 | g.122262175T>A | CA82738904 | CASR | c.1140T>A (p.Ser380Arg) c.657T>A (p.Ser219Arg) c.552T>A (p.Ser184Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262175T>C | CA435424534 | CASR | c.1140T>C (p.Ser380=) c.657T>C (p.Ser219=) c.552T>C (p.Ser184=) | ClinVar |
3 | g.122262175T>G | CA354152676 | CASR | c.1140T>G (p.Ser380Arg) c.657T>G (p.Ser219Arg) c.552T>G (p.Ser184Arg) | |
3 | g.122262175T= | CA1397873502 | CASR | c.1140T= (p.Ser380=) c.657T= (p.Ser219=) c.552T= (p.Ser184=) | |
3 | g.122262176G>A | CA354152679 | CASR | c.1141G>A (p.Gly381Ser) c.658G>A (p.Gly220Ser) c.553G>A (p.Gly185Ser) | |
3 | g.122262176G>C | CA354152677 | CASR | c.1141G>C (p.Gly381Arg) c.658G>C (p.Gly220Arg) c.553G>C (p.Gly185Arg) | |
3 | g.122262176G>T | CA354152678 | CASR | c.1141G>T (p.Gly381Cys) c.658G>T (p.Gly220Cys) c.553G>T (p.Gly185Cys) | |
3 | g.122262177G>A | CA354152680 | CASR | c.1142G>A (p.Gly381Asp) c.659G>A (p.Gly220Asp) c.554G>A (p.Gly185Asp) | |
3 | g.122262177G>C | CA354152681 | CASR | c.1142G>C (p.Gly381Ala) c.659G>C (p.Gly220Ala) c.554G>C (p.Gly185Ala) | dbSNP |
3 | g.122262177G>T | CA354152682 | CASR | c.1142G>T (p.Gly381Val) c.659G>T (p.Gly220Val) c.554G>T (p.Gly185Val) | COSMIC |
3 | g.122262178C>A | CA435424538 | CASR | c.1143C>A (p.Gly381=) c.660C>A (p.Gly220=) c.555C>A (p.Gly185=) | ClinVar dbSNP |
3 | g.122262178C= | CA1397873512 | CASR | c.1143C= (p.Gly381=) c.660C= (p.Gly220=) c.555C= (p.Gly185=) | |
3 | g.122262178C>G | CA435424539 | CASR | c.1143C>G (p.Gly381=) c.660C>G (p.Gly220=) c.555C>G (p.Gly185=) | |
3 | g.122262178C>T | CA2569601 | CASR | c.1143C>T (p.Gly381=) c.660C>T (p.Gly220=) c.555C>T (p.Gly185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262179G>A | CA2569602 | CASR | c.1144G>A (p.Asp382Asn) c.661G>A (p.Asp221Asn) c.556G>A (p.Asp186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262179G>C | CA354152683 | CASR | c.1144G>C (p.Asp382His) c.661G>C (p.Asp221His) c.556G>C (p.Asp186His) | gnomAD v4 |
3 | g.122262179G= | CA1397873515 | CASR | c.1144G= (p.Asp382=) c.661G= (p.Asp221=) c.556G= (p.Asp186=) | |
3 | g.122262179G>T | CA354152684 | CASR | c.1144G>T (p.Asp382Tyr) c.661G>T (p.Asp221Tyr) c.556G>T (p.Asp186Tyr) | ClinVar gnomAD v4 |
3 | g.122262180A= | CA1397873519 | CASR | c.1145A= (p.Asp382=) c.662A= (p.Asp221=) c.557A= (p.Asp186=) | |
3 | g.122262180A>C | CA354152685 | CASR | c.1145A>C (p.Asp382Ala) c.662A>C (p.Asp221Ala) c.557A>C (p.Asp186Ala) | |
3 | g.122262180A>G | CA354152686 | CASR | c.1145A>G (p.Asp382Gly) c.662A>G (p.Asp221Gly) c.557A>G (p.Asp186Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262180A>T | CA354152687 | CASR | c.1145A>T (p.Asp382Val) c.662A>T (p.Asp221Val) c.557A>T (p.Asp186Val) | |
3 | g.122262181C>A | CA354152688 | CASR | c.1146C>A (p.Asp382Glu) c.663C>A (p.Asp221Glu) c.558C>A (p.Asp186Glu) | |
3 | g.122262181C= | CA1397873522 | CASR | c.1146C= (p.Asp382=) c.663C= (p.Asp221=) c.558C= (p.Asp186=) | |
3 | g.122262181C>G | CA354152689 | CASR | c.1146C>G (p.Asp382Glu) c.663C>G (p.Asp221Glu) c.558C>G (p.Asp186Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262181C>T | CA435424545 | CASR | c.1146C>T (p.Asp382=) c.663C>T (p.Asp221=) c.558C>T (p.Asp186=) | |
3 | g.122262182A= | CA1397873525 | CASR | c.1147A= (p.Arg383=) c.664A= (p.Arg222=) c.559A= (p.Arg187=) | |
3 | g.122262182A>C | CA435424546 | CASR | c.1147A>C (p.Arg383=) c.664A>C (p.Arg222=) c.559A>C (p.Arg187=) | |
3 | g.122262182A>G | CA354152690 | CASR | c.1147A>G (p.Arg383Gly) c.664A>G (p.Arg222Gly) c.559A>G (p.Arg187Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262182A>T | CA354152691 | CASR | c.1147A>T (p.Arg383Trp) c.664A>T (p.Arg222Trp) c.559A>T (p.Arg187Trp) | |
3 | g.122262183G>A | CA354152692 | CASR | c.1148G>A (p.Arg383Lys) c.665G>A (p.Arg222Lys) c.560G>A (p.Arg187Lys) | |
3 | g.122262183G>C | CA354152694 | CASR | c.1148G>C (p.Arg383Thr) c.665G>C (p.Arg222Thr) c.560G>C (p.Arg187Thr) | |
3 | g.122262183G>T | CA354152693 | CASR | c.1148G>T (p.Arg383Met) c.665G>T (p.Arg222Met) c.560G>T (p.Arg187Met) | |
3 | g.122262184G>A | CA435424548 | CASR | c.1149G>A (p.Arg383=) c.666G>A (p.Arg222=) c.561G>A (p.Arg187=) | ClinVar |
3 | g.122262184G>C | CA82738910 | CASR | c.1149G>C (p.Arg383Ser) c.666G>C (p.Arg222Ser) c.561G>C (p.Arg187Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262184G= | CA1397873529 | CASR | c.1149G= (p.Arg383=) c.666G= (p.Arg222=) c.561G= (p.Arg187=) | |
3 | g.122262184G>T | CA354152695 | CASR | c.1149G>T (p.Arg383Ser) c.666G>T (p.Arg222Ser) c.561G>T (p.Arg187Ser) | |
3 | g.122262185T>A | CA354152696 | CASR | c.1150T>A (p.Phe384Ile) c.667T>A (p.Phe223Ile) c.562T>A (p.Phe188Ile) | |
3 | g.122262185T>C | CA354152697 | CASR | c.1150T>C (p.Phe384Leu) c.667T>C (p.Phe223Leu) c.562T>C (p.Phe188Leu) | |
3 | g.122262185T>G | CA354152698 | CASR | c.1150T>G (p.Phe384Val) c.667T>G (p.Phe223Val) c.562T>G (p.Phe188Val) | |
3 | g.122262186T>A | CA354152699 | CASR | c.1151T>A (p.Phe384Tyr) c.668T>A (p.Phe223Tyr) c.563T>A (p.Phe188Tyr) | |
3 | g.122262186T>C | CA354152700 | CASR | c.1151T>C (p.Phe384Ser) c.668T>C (p.Phe223Ser) c.563T>C (p.Phe188Ser) | |
3 | g.122262186T>G | CA354152701 | CASR | c.1151T>G (p.Phe384Cys) c.668T>G (p.Phe223Cys) c.563T>G (p.Phe188Cys) | |
3 | g.122262187T>A | CA354152702 | CASR | c.1152T>A (p.Phe384Leu) c.669T>A (p.Phe223Leu) c.564T>A (p.Phe188Leu) | |
3 | g.122262187T>C | CA435424552 | CASR | c.1152T>C (p.Phe384=) c.669T>C (p.Phe223=) c.564T>C (p.Phe188=) | |
3 | g.122262187T>G | CA354152703 | CASR | c.1152T>G (p.Phe384Leu) c.669T>G (p.Phe223Leu) c.564T>G (p.Phe188Leu) | |
3 | g.122262188A>C | CA354152704 | CASR | c.1153A>C (p.Ser385Arg) c.670A>C (p.Ser224Arg) c.565A>C (p.Ser189Arg) | gnomAD v4 |
3 | g.122262188A>G | CA354152705 | CASR | c.1153A>G (p.Ser385Gly) c.670A>G (p.Ser224Gly) c.565A>G (p.Ser189Gly) | |
3 | g.122262188A>T | CA354152706 | CASR | c.1153A>T (p.Ser385Cys) c.670A>T (p.Ser224Cys) c.565A>T (p.Ser189Cys) | |
3 | g.122262189G>A | CA354152707 | CASR | c.1154G>A (p.Ser385Asn) c.671G>A (p.Ser224Asn) c.566G>A (p.Ser189Asn) | ClinVar dbSNP |
3 | g.122262189G>C | CA354152709 | CASR | c.1154G>C (p.Ser385Thr) c.671G>C (p.Ser224Thr) c.566G>C (p.Ser189Thr) | |
3 | g.122262189G= | CA1397873536 | CASR | c.1154G= (p.Ser385=) c.671G= (p.Ser224=) c.566G= (p.Ser189=) | |
3 | g.122262189G>T | CA354152708 | CASR | c.1154G>T (p.Ser385Ile) c.671G>T (p.Ser224Ile) c.566G>T (p.Ser189Ile) | |
3 | g.122262190C>A | CA354152710 | CASR | c.1155C>A (p.Ser385Arg) c.672C>A (p.Ser224Arg) c.567C>A (p.Ser189Arg) | ClinVar COSMIC |
3 | g.122262190C= | CA1397873544 | CASR | c.1155C= (p.Ser385=) c.672C= (p.Ser224=) c.567C= (p.Ser189=) | |
3 | g.122262190C>G | CA354152711 | CASR | c.1155C>G (p.Ser385Arg) c.672C>G (p.Ser224Arg) c.567C>G (p.Ser189Arg) | |
3 | g.122262190C>T | CA435424562 | CASR | c.1155C>T (p.Ser385=) c.672C>T (p.Ser224=) c.567C>T (p.Ser189=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262191A>C | CA354152712 | CASR | c.1156A>C (p.Asn386His) c.673A>C (p.Asn225His) c.568A>C (p.Asn190His) | ClinVar dbSNP |
3 | g.122262191A>G | CA354152713 | CASR | c.1156A>G (p.Asn386Asp) c.673A>G (p.Asn225Asp) c.568A>G (p.Asn190Asp) | |
3 | g.122262191A>T | CA354152714 | CASR | c.1156A>T (p.Asn386Tyr) c.673A>T (p.Asn225Tyr) c.568A>T (p.Asn190Tyr) | |
3 | g.122262192A>C | CA354152715 | CASR | c.1157A>C (p.Asn386Thr) c.674A>C (p.Asn225Thr) c.569A>C (p.Asn190Thr) | |
3 | g.122262192A>G | CA354152716 | CASR | c.1157A>G (p.Asn386Ser) c.674A>G (p.Asn225Ser) c.569A>G (p.Asn190Ser) | |
3 | g.122262192A>T | CA354152717 | CASR | c.1157A>T (p.Asn386Ile) c.674A>T (p.Asn225Ile) c.569A>T (p.Asn190Ile) | |
3 | g.122262193C>A | CA354152718 | CASR | c.1158C>A (p.Asn386Lys) c.675C>A (p.Asn225Lys) c.570C>A (p.Asn190Lys) | |
3 | g.122262193C>G | CA354152719 | CASR | c.1158C>G (p.Asn386Lys) c.675C>G (p.Asn225Lys) c.570C>G (p.Asn190Lys) | |
3 | g.122262193C>T | CA435424571 | CASR | c.1158C>T (p.Asn386=) c.675C>T (p.Asn225=) c.570C>T (p.Asn190=) | |
3 | g.122262194A= | CA1397873548 | CASR | c.1159A= (p.Ser387=) c.676A= (p.Ser226=) c.571A= (p.Ser191=) | |
3 | g.122262194A>C | CA354152721 | CASR | c.1159A>C (p.Ser387Arg) c.676A>C (p.Ser226Arg) c.571A>C (p.Ser191Arg) | |
3 | g.122262194A>G | CA2569603 | CASR | c.1159A>G (p.Ser387Gly) c.676A>G (p.Ser226Gly) c.571A>G (p.Ser191Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262194A>T | CA354152720 | CASR | c.1159A>T (p.Ser387Cys) c.676A>T (p.Ser226Cys) c.571A>T (p.Ser191Cys) | |
3 | g.122262195G>A | CA354152722 | CASR | c.1160G>A (p.Ser387Asn) c.677G>A (p.Ser226Asn) c.572G>A (p.Ser191Asn) | COSMIC |
3 | g.122262195G>C | CA354152723 | CASR | c.1160G>C (p.Ser387Thr) c.677G>C (p.Ser226Thr) c.572G>C (p.Ser191Thr) | ClinVar |
3 | g.122262195G>T | CA354152724 | CASR | c.1160G>T (p.Ser387Ile) c.677G>T (p.Ser226Ile) c.572G>T (p.Ser191Ile) | |
3 | g.122262196C>A | CA354152725 | CASR | c.1161C>A (p.Ser387Arg) c.678C>A (p.Ser226Arg) c.573C>A (p.Ser191Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262196C= | CA1397873555 | CASR | c.1161C= (p.Ser387=) c.678C= (p.Ser226=) c.573C= (p.Ser191=) | |
3 | g.122262196C>G | CA354152726 | CASR | c.1161C>G (p.Ser387Arg) c.678C>G (p.Ser226Arg) c.573C>G (p.Ser191Arg) | |
3 | g.122262196C>T | CA435424577 | CASR | c.1161C>T (p.Ser387=) c.678C>T (p.Ser226=) c.573C>T (p.Ser191=) | |
3 | g.122262197T>A | CA354152727 | CASR | c.1162T>A (p.Ser388Thr) c.679T>A (p.Ser227Thr) c.574T>A (p.Ser192Thr) | |
3 | g.122262197T>C | CA354152728 | CASR | c.1162T>C (p.Ser388Pro) c.679T>C (p.Ser227Pro) c.574T>C (p.Ser192Pro) | |
3 | g.122262197T>G | CA354152729 | CASR | c.1162T>G (p.Ser388Ala) c.679T>G (p.Ser227Ala) c.574T>G (p.Ser192Ala) | |
3 | g.122262198C>A | CA354152730 | CASR | c.1163C>A (p.Ser388Ter) c.680C>A (p.Ser227Ter) c.575C>A (p.Ser192Ter) | COSMIC |
3 | g.122262198C= | CA1397873566 | CASR | c.1163C= (p.Ser388=) c.680C= (p.Ser227=) c.575C= (p.Ser192=) | |
3 | g.122262198C>G | CA2569604 | CASR | c.1163C>G (p.Ser388Trp) c.680C>G (p.Ser227Trp) c.575C>G (p.Ser192Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262198C>T | CA82738915 | CASR | c.1163C>T (p.Ser388Leu) c.680C>T (p.Ser227Leu) c.575C>T (p.Ser192Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262199G>A | CA2569605 | CASR | c.1164G>A (p.Ser388=) c.681G>A (p.Ser227=) c.576G>A (p.Ser192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262199G>C | CA435424583 | CASR | c.1164G>C (p.Ser388=) c.681G>C (p.Ser227=) c.576G>C (p.Ser192=) | ClinVar dbSNP gnomAD v2 |
3 | g.122262199G= | CA1397873576 | CASR | c.1164G= (p.Ser388=) c.681G= (p.Ser227=) c.576G= (p.Ser192=) | |
3 | g.122262199G>T | CA435424584 | CASR | c.1164G>T (p.Ser388=) c.681G>T (p.Ser227=) c.576G>T (p.Ser192=) | ClinVar |
3 | g.122262199_122262200delinsGA | CA1397873574 | CASR | c.1164_1165delinsGA (p.Ser388=) c.681_682delinsGA (p.Ser227=) c.576_577delinsGA (p.Ser192=) | |
3 | g.122262200del | CA2569606 | CASR | c.1165del (p.Thr389GlnfsTer21) c.682del (p.Thr228GlnfsTer21) c.577del (p.Thr193GlnfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262200A>C | CA354152733 | CASR | c.1165A>C (p.Thr389Pro) c.682A>C (p.Thr228Pro) c.577A>C (p.Thr193Pro) | |
3 | g.122262200A>G | CA354152732 | CASR | c.1165A>G (p.Thr389Ala) c.682A>G (p.Thr228Ala) c.577A>G (p.Thr193Ala) | ClinVar |
3 | g.122262200A>T | CA354152731 | CASR | c.1165A>T (p.Thr389Ser) c.682A>T (p.Thr228Ser) c.577A>T (p.Thr193Ser) | |
3 | g.122262201C>A | CA354152734 | CASR | c.1166C>A (p.Thr389Lys) c.683C>A (p.Thr228Lys) c.578C>A (p.Thr193Lys) | |
3 | g.122262201C>G | CA354152735 | CASR | c.1166C>G (p.Thr389Arg) c.683C>G (p.Thr228Arg) c.578C>G (p.Thr193Arg) | ClinVar dbSNP |
3 | g.122262201C>T | CA354152736 | CASR | c.1166C>T (p.Thr389Ile) c.683C>T (p.Thr228Ile) c.578C>T (p.Thr193Ile) | |
3 | g.122262202A>C | CA435424588 | CASR | c.1167A>C (p.Thr389=) c.684A>C (p.Thr228=) c.579A>C (p.Thr193=) | |
3 | g.122262202A>G | CA435424589 | CASR | c.1167A>G (p.Thr389=) c.684A>G (p.Thr228=) c.579A>G (p.Thr193=) | |
3 | g.122262202A>T | CA435424590 | CASR | c.1167A>T (p.Thr389=) c.684A>T (p.Thr228=) c.579A>T (p.Thr193=) | |
3 | g.122262203G>A | CA82738922 | CASR | c.1168G>A (p.Ala390Thr) c.685G>A (p.Ala229Thr) c.580G>A (p.Ala194Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.122262203G>C | CA354152737 | CASR | c.1168G>C (p.Ala390Pro) c.685G>C (p.Ala229Pro) c.580G>C (p.Ala194Pro) | |
3 | g.122262203G= | CA1397873585 | CASR | c.1168G= (p.Ala390=) c.685G= (p.Ala229=) c.580G= (p.Ala194=) | |
3 | g.122262203G>T | CA354152738 | CASR | c.1168G>T (p.Ala390Ser) c.685G>T (p.Ala229Ser) c.580G>T (p.Ala194Ser) | |
3 | g.122262204C>A | CA354152739 | CASR | c.1169C>A (p.Ala390Asp) c.686C>A (p.Ala229Asp) c.581C>A (p.Ala194Asp) | ClinVar dbSNP |
3 | g.122262204C= | CA1397873596 | CASR | c.1169C= (p.Ala390=) c.686C= (p.Ala229=) c.581C= (p.Ala194=) | |
3 | g.122262204C>G | CA2569607 | CASR | c.1169C>G (p.Ala390Gly) c.686C>G (p.Ala229Gly) c.581C>G (p.Ala194Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262204C>T | CA354152740 | CASR | c.1169C>T (p.Ala390Val) c.686C>T (p.Ala229Val) c.581C>T (p.Ala194Val) | COSMIC |