| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46898097C>A | CA352495004 | PTH1R | c.448C>A (p.Arg150Ser) n.468C>A c.355C>A (p.Arg119Ser) c.487C>A (p.Arg163Ser) c.469C>A (p.Arg157Ser) | |
| 3 | g.46898097C= | CA1362309983 | PTH1R | c.448C= (p.Arg150=) n.468C= c.355C= (p.Arg119=) c.487C= (p.Arg163=) c.469C= (p.Arg157=) | |
| 3 | g.46898097C>G | CA352495006 | PTH1R | c.448C>G (p.Arg150Gly) n.468C>G c.355C>G (p.Arg119Gly) c.487C>G (p.Arg163Gly) c.469C>G (p.Arg157Gly) | |
| 3 | g.46898097C>T | CA2359185 | PTH1R | c.448C>T (p.Arg150Cys) n.468C>T c.355C>T (p.Arg119Cys) c.487C>T (p.Arg163Cys) c.469C>T (p.Arg157Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46898098G>A | CA2359187 | PTH1R | c.449G>A (p.Arg150His) n.469G>A c.356G>A (p.Arg119His) c.488G>A (p.Arg163His) c.470G>A (p.Arg157His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46898098G>C | CA352495011 | PTH1R | c.449G>C (p.Arg150Pro) n.469G>C c.356G>C (p.Arg119Pro) c.488G>C (p.Arg163Pro) c.470G>C (p.Arg157Pro) | gnomAD v4 |
| 3 | g.46898098G= | CA1362309993 | PTH1R | c.449G= (p.Arg150=) n.469G= c.356G= (p.Arg119=) c.488G= (p.Arg163=) c.470G= (p.Arg157=) | |
| 3 | g.46898098G>T | CA2359186 | PTH1R | c.449G>T (p.Arg150Leu) n.469G>T c.356G>T (p.Arg119Leu) c.488G>T (p.Arg163Leu) c.470G>T (p.Arg157Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46898099C>A | CA433595749 | PTH1R | c.450C>A (p.Arg150=) n.470C>A c.357C>A (p.Arg119=) c.489C>A (p.Arg163=) c.471C>A (p.Arg157=) | gnomAD v4 |
| 3 | g.46898099C>G | CA433595751 | PTH1R | c.450C>G (p.Arg150=) n.470C>G c.357C>G (p.Arg119=) c.489C>G (p.Arg163=) c.471C>G (p.Arg157=) | |
| 3 | g.46898099C>T | CA433595752 | PTH1R | c.450C>T (p.Arg150=) n.470C>T c.357C>T (p.Arg119=) c.489C>T (p.Arg163=) c.471C>T (p.Arg157=) | |
| 3 | g.46898100A>C | CA352495018 | PTH1R | c.451A>C (p.Asn151His) n.471A>C c.358A>C (p.Asn120His) c.490A>C (p.Asn164His) c.472A>C (p.Asn158His) | |
| 3 | g.46898100A>G | CA352495024 | PTH1R | c.451A>G (p.Asn151Asp) n.471A>G c.358A>G (p.Asn120Asp) c.490A>G (p.Asn164Asp) c.472A>G (p.Asn158Asp) | |
| 3 | g.46898100A>T | CA352495021 | PTH1R | c.451A>T (p.Asn151Tyr) n.471A>T c.358A>T (p.Asn120Tyr) c.490A>T (p.Asn164Tyr) c.472A>T (p.Asn158Tyr) | |
| 3 | g.46898101A= | CA1362309997 | PTH1R | c.452A= (p.Asn151=) n.472A= c.359A= (p.Asn120=) c.491A= (p.Asn164=) c.473A= (p.Asn158=) | |
| 3 | g.46898101A>C | CA352495025 | PTH1R | c.452A>C (p.Asn151Thr) n.472A>C c.359A>C (p.Asn120Thr) c.491A>C (p.Asn164Thr) c.473A>C (p.Asn158Thr) | |
| 3 | g.46898101A>G | CA352495026 | PTH1R | c.452A>G (p.Asn151Ser) n.472A>G c.359A>G (p.Asn120Ser) c.491A>G (p.Asn164Ser) c.473A>G (p.Asn158Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46898101A>T | CA352495028 | PTH1R | c.452A>T (p.Asn151Ile) n.472A>T c.359A>T (p.Asn120Ile) c.491A>T (p.Asn164Ile) c.473A>T (p.Asn158Ile) | |
| 3 | g.46898102T>A | CA352495032 | PTH1R | c.453T>A (p.Asn151Lys) n.473T>A c.360T>A (p.Asn120Lys) c.492T>A (p.Asn164Lys) c.474T>A (p.Asn158Lys) | |
| 3 | g.46898102T>C | CA433595754 | PTH1R | c.453T>C (p.Asn151=) n.473T>C c.360T>C (p.Asn120=) c.492T>C (p.Asn164=) c.474T>C (p.Asn158=) | |
| 3 | g.46898102T>G | CA352495036 | PTH1R | c.453T>G (p.Asn151Lys) n.473T>G c.360T>G (p.Asn120Lys) c.492T>G (p.Asn164Lys) c.474T>G (p.Asn158Lys) | |
| 3 | g.46898103G>A | CA352495040 | PTH1R | c.454G>A (p.Gly152Ser) n.474G>A c.361G>A (p.Gly121Ser) c.493G>A (p.Gly165Ser) c.475G>A (p.Gly159Ser) | COSMIC |
| 3 | g.46898103G>C | CA352495042 | PTH1R | c.454G>C (p.Gly152Arg) n.474G>C c.361G>C (p.Gly121Arg) c.493G>C (p.Gly165Arg) c.475G>C (p.Gly159Arg) | |
| 3 | g.46898103G>T | CA352495045 | PTH1R | c.454G>T (p.Gly152Cys) n.474G>T c.361G>T (p.Gly121Cys) c.493G>T (p.Gly165Cys) c.475G>T (p.Gly159Cys) | |
| 3 | g.46898104G>A | CA352495048 | PTH1R | c.455G>A (p.Gly152Asp) n.475G>A c.362G>A (p.Gly121Asp) c.494G>A (p.Gly165Asp) c.476G>A (p.Gly159Asp) | |
| 3 | g.46898104G>C | CA352495053 | PTH1R | c.455G>C (p.Gly152Ala) n.475G>C c.362G>C (p.Gly121Ala) c.494G>C (p.Gly165Ala) c.476G>C (p.Gly159Ala) | |
| 3 | g.46898104G>T | CA352495051 | PTH1R | c.455G>T (p.Gly152Val) n.475G>T c.362G>T (p.Gly121Val) c.494G>T (p.Gly165Val) c.476G>T (p.Gly159Val) | |
| 3 | g.46898105C>A | CA433595760 | PTH1R | c.456C>A (p.Gly152=) n.476C>A c.363C>A (p.Gly121=) c.495C>A (p.Gly165=) c.477C>A (p.Gly159=) | |
| 3 | g.46898105C= | CA1362309999 | PTH1R | c.456C= (p.Gly152=) n.476C= c.363C= (p.Gly121=) c.495C= (p.Gly165=) c.477C= (p.Gly159=) | |
| 3 | g.46898105C>G | CA433595761 | PTH1R | c.456C>G (p.Gly152=) n.476C>G c.363C>G (p.Gly121=) c.495C>G (p.Gly165=) c.477C>G (p.Gly159=) | |
| 3 | g.46898105C>T | CA2359188 | PTH1R | c.456C>T (p.Gly152=) n.476C>T c.363C>T (p.Gly121=) c.495C>T (p.Gly165=) c.477C>T (p.Gly159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898106A>C | CA352495056 | PTH1R | c.457A>C (p.Ser153Arg) n.477A>C c.364A>C (p.Ser122Arg) c.496A>C (p.Ser166Arg) c.478A>C (p.Ser160Arg) | |
| 3 | g.46898106A>G | CA352495059 | PTH1R | c.457A>G (p.Ser153Gly) n.477A>G c.364A>G (p.Ser122Gly) c.496A>G (p.Ser166Gly) c.478A>G (p.Ser160Gly) | |
| 3 | g.46898106A>T | CA352495063 | PTH1R | c.457A>T (p.Ser153Cys) n.477A>T c.364A>T (p.Ser122Cys) c.496A>T (p.Ser166Cys) c.478A>T (p.Ser160Cys) | |
| 3 | g.46898107G>A | CA352495068 | PTH1R | c.458G>A (p.Ser153Asn) n.478G>A c.365G>A (p.Ser122Asn) c.497G>A (p.Ser166Asn) c.479G>A (p.Ser160Asn) | |
| 3 | g.46898107G>C | CA352495076 | PTH1R | c.458G>C (p.Ser153Thr) n.478G>C c.365G>C (p.Ser122Thr) c.497G>C (p.Ser166Thr) c.479G>C (p.Ser160Thr) | |
| 3 | g.46898107G>T | CA352495072 | PTH1R | c.458G>T (p.Ser153Ile) n.478G>T c.365G>T (p.Ser122Ile) c.497G>T (p.Ser166Ile) c.479G>T (p.Ser160Ile) | |
| 3 | g.46898108C>A | CA352495078 | PTH1R | c.459C>A (p.Ser153Arg) n.479C>A c.366C>A (p.Ser122Arg) c.498C>A (p.Ser166Arg) c.480C>A (p.Ser160Arg) | |
| 3 | g.46898108C>G | CA352495079 | PTH1R | c.459C>G (p.Ser153Arg) n.479C>G c.366C>G (p.Ser122Arg) c.498C>G (p.Ser166Arg) c.480C>G (p.Ser160Arg) | |
| 3 | g.46898108C>T | CA433595764 | PTH1R | c.459C>T (p.Ser153=) n.479C>T c.366C>T (p.Ser122=) c.498C>T (p.Ser166=) c.480C>T (p.Ser160=) | |
| 3 | g.46898109T>A | CA352495080 | PTH1R | c.460T>A (p.Trp154Arg) n.480T>A c.367T>A (p.Trp123Arg) c.499T>A (p.Trp167Arg) c.481T>A (p.Trp161Arg) | |
| 3 | g.46898109T>C | CA352495084 | PTH1R | c.460T>C (p.Trp154Arg) n.480T>C c.367T>C (p.Trp123Arg) c.499T>C (p.Trp167Arg) c.481T>C (p.Trp161Arg) | |
| 3 | g.46898109T>G | CA352495087 | PTH1R | c.460T>G (p.Trp154Gly) n.480T>G c.367T>G (p.Trp123Gly) c.499T>G (p.Trp167Gly) c.481T>G (p.Trp161Gly) | |
| 3 | g.46898110G>A | CA352495094 | PTH1R | c.461G>A (p.Trp154Ter) n.481G>A c.368G>A (p.Trp123Ter) c.500G>A (p.Trp167Ter) c.482G>A (p.Trp161Ter) | |
| 3 | g.46898110G>C | CA352495096 | PTH1R | c.461G>C (p.Trp154Ser) n.481G>C c.368G>C (p.Trp123Ser) c.500G>C (p.Trp167Ser) c.482G>C (p.Trp161Ser) | |
| 3 | g.46898110G>T | CA352495098 | PTH1R | c.461G>T (p.Trp154Leu) n.481G>T c.368G>T (p.Trp123Leu) c.500G>T (p.Trp167Leu) c.482G>T (p.Trp161Leu) | |
| 3 | g.46898111G>A | CA352495100 | PTH1R | c.462G>A (p.Trp154Ter) n.482G>A c.369G>A (p.Trp123Ter) c.501G>A (p.Trp167Ter) c.483G>A (p.Trp161Ter) | |
| 3 | g.46898111G>C | CA352495101 | PTH1R | c.462G>C (p.Trp154Cys) n.482G>C c.369G>C (p.Trp123Cys) c.501G>C (p.Trp167Cys) c.483G>C (p.Trp161Cys) | |
| 3 | g.46898111G>T | CA352495102 | PTH1R | c.462G>T (p.Trp154Cys) n.482G>T c.369G>T (p.Trp123Cys) c.501G>T (p.Trp167Cys) c.483G>T (p.Trp161Cys) | |
| 3 | g.46898112G>A | CA2359189 | PTH1R | c.463G>A (p.Glu155Lys) n.483G>A c.370G>A (p.Glu124Lys) c.502G>A (p.Glu168Lys) c.484G>A (p.Glu162Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |