| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46898691A= | CA1362310810 | PTH1R | c.668A= (p.His223=) n.688A= c.575A= (p.His192=) c.707A= (p.His236=) c.689A= (p.His230=) | |
| 3 | g.46898691A>C | CA352496179 | PTH1R | c.668A>C (p.His223Pro) n.688A>C c.575A>C (p.His192Pro) c.707A>C (p.His236Pro) c.689A>C (p.His230Pro) | |
| 3 | g.46898691A>G | CA123421 | PTH1R | c.668A>G (p.His223Arg) n.688A>G c.575A>G (p.His192Arg) c.707A>G (p.His236Arg) c.689A>G (p.His230Arg) | ClinVar dbSNP |
| 3 | g.46898691A>T | CA352496176 | PTH1R | c.668A>T (p.His223Leu) n.688A>T c.575A>T (p.His192Leu) c.707A>T (p.His236Leu) c.689A>T (p.His230Leu) | |
| 3 | g.46898692C>A | CA352496188 | PTH1R | c.669C>A (p.His223Gln) n.689C>A c.576C>A (p.His192Gln) c.708C>A (p.His236Gln) c.690C>A (p.His230Gln) | |
| 3 | g.46898692C= | CA1362310812 | PTH1R | c.669C= (p.His223=) n.689C= c.576C= (p.His192=) c.708C= (p.His236=) c.690C= (p.His230=) | |
| 3 | g.46898692C>G | CA352496191 | PTH1R | c.669C>G (p.His223Gln) n.689C>G c.576C>G (p.His192Gln) c.708C>G (p.His236Gln) c.690C>G (p.His230Gln) | |
| 3 | g.46898692C>T | CA433471111 | PTH1R | c.669C>T (p.His223=) n.689C>T c.576C>T (p.His192=) c.708C>T (p.His236=) c.690C>T (p.His230=) | dbSNP gnomAD v4 |
| 3 | g.46898693A= | CA1362310816 | PTH1R | c.670A= (p.Met224=) n.690A= c.577A= (p.Met193=) c.709A= (p.Met237=) c.691A= (p.Met231=) | |
| 3 | g.46898693A>C | CA352496192 | PTH1R | c.670A>C (p.Met224Leu) n.690A>C c.577A>C (p.Met193Leu) c.709A>C (p.Met237Leu) c.691A>C (p.Met231Leu) | |
| 3 | g.46898693A>G | CA2359293 | PTH1R | c.670A>G (p.Met224Val) n.690A>G c.577A>G (p.Met193Val) c.709A>G (p.Met237Val) c.691A>G (p.Met231Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898693A>T | CA2359294 | PTH1R | c.670A>T (p.Met224Leu) n.690A>T c.577A>T (p.Met193Leu) c.709A>T (p.Met237Leu) c.691A>T (p.Met231Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898694T>A | CA352496220 | PTH1R | c.671T>A (p.Met224Lys) n.691T>A c.578T>A (p.Met193Lys) c.710T>A (p.Met237Lys) c.692T>A (p.Met231Lys) | |
| 3 | g.46898694T>C | CA73769860 | PTH1R | c.671T>C (p.Met224Thr) n.691T>C c.578T>C (p.Met193Thr) c.710T>C (p.Met237Thr) c.692T>C (p.Met231Thr) | dbSNP gnomAD v4 |
| 3 | g.46898694T>G | CA352496228 | PTH1R | c.671T>G (p.Met224Arg) n.691T>G c.578T>G (p.Met193Arg) c.710T>G (p.Met237Arg) c.692T>G (p.Met231Arg) | |
| 3 | g.46898694T= | CA1362310820 | PTH1R | c.671T= (p.Met224=) n.691T= c.578T= (p.Met193=) c.710T= (p.Met237=) c.692T= (p.Met231=) | |
| 3 | g.46898695G>A | CA352496235 | PTH1R | c.672G>A (p.Met224Ile) n.692G>A c.579G>A (p.Met193Ile) c.711G>A (p.Met237Ile) c.693G>A (p.Met231Ile) | |
| 3 | g.46898695G>C | CA352496239 | PTH1R | c.672G>C (p.Met224Ile) n.692G>C c.579G>C (p.Met193Ile) c.711G>C (p.Met237Ile) c.693G>C (p.Met231Ile) | |
| 3 | g.46898695G>T | CA352496245 | PTH1R | c.672G>T (p.Met224Ile) n.692G>T c.579G>T (p.Met193Ile) c.711G>T (p.Met237Ile) c.693G>T (p.Met231Ile) | |
| 3 | g.46898697_46898722dup | CA2665482404 | PTH1R | c.674_699dup (p.Ala234ThrfsTer11) n.694_719dup c.581_606dup (p.Ala203ThrfsTer11) c.713_738dup (p.Ala247ThrfsTer11) c.695_720dup (p.Ala241ThrfsTer11) | gnomAD v4 |
| 3 | g.46898696C>A | CA352496254 | PTH1R | c.673C>A (p.His225Asn) n.693C>A c.580C>A (p.His194Asn) c.712C>A (p.His238Asn) c.694C>A (p.His232Asn) | gnomAD v4 |
| 3 | g.46898696C= | CA1362310824 | PTH1R | c.673C= (p.His225=) n.693C= c.580C= (p.His194=) c.712C= (p.His238=) c.694C= (p.His232=) | |
| 3 | g.46898696C>G | CA352496252 | PTH1R | c.673C>G (p.His225Asp) n.693C>G c.580C>G (p.His194Asp) c.712C>G (p.His238Asp) c.694C>G (p.His232Asp) | |
| 3 | g.46898696C>T | CA2359295 | PTH1R | c.673C>T (p.His225Tyr) n.693C>T c.580C>T (p.His194Tyr) c.712C>T (p.His238Tyr) c.694C>T (p.His232Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898697A= | CA1362310828 | PTH1R | c.674A= (p.His225=) n.694A= c.581A= (p.His194=) c.713A= (p.His238=) c.695A= (p.His232=) | |
| 3 | g.46898697A>C | CA352496266 | PTH1R | c.674A>C (p.His225Pro) n.694A>C c.581A>C (p.His194Pro) c.713A>C (p.His238Pro) c.695A>C (p.His232Pro) | |
| 3 | g.46898697A>G | CA352496291 | PTH1R | c.674A>G (p.His225Arg) n.694A>G c.581A>G (p.His194Arg) c.713A>G (p.His238Arg) c.695A>G (p.His232Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46898697A>T | CA352496296 | PTH1R | c.674A>T (p.His225Leu) n.694A>T c.581A>T (p.His194Leu) c.713A>T (p.His238Leu) c.695A>T (p.His232Leu) | |
| 3 | g.46898698C>A | CA352496297 | PTH1R | c.675C>A (p.His225Gln) n.695C>A c.582C>A (p.His194Gln) c.714C>A (p.His238Gln) c.696C>A (p.His232Gln) | gnomAD v4 |
| 3 | g.46898698C= | CA1362310832 | PTH1R | c.675C= (p.His225=) n.695C= c.582C= (p.His194=) c.714C= (p.His238=) c.696C= (p.His232=) | |
| 3 | g.46898698C>G | CA352496298 | PTH1R | c.675C>G (p.His225Gln) n.695C>G c.582C>G (p.His194Gln) c.714C>G (p.His238Gln) c.696C>G (p.His232Gln) | |
| 3 | g.46898698C>T | CA2359296 | PTH1R | c.675C>T (p.His225=) n.695C>T c.582C>T (p.His194=) c.714C>T (p.His238=) c.696C>T (p.His232=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898699C>A | CA352496307 | PTH1R | c.676C>A (p.Leu226Met) n.696C>A c.583C>A (p.Leu195Met) c.715C>A (p.Leu239Met) c.697C>A (p.Leu233Met) | |
| 3 | g.46898699C= | CA1362310834 | PTH1R | c.676C= (p.Leu226=) n.696C= c.583C= (p.Leu195=) c.715C= (p.Leu239=) c.697C= (p.Leu233=) | |
| 3 | g.46898699C>G | CA352496308 | PTH1R | c.676C>G (p.Leu226Val) n.696C>G c.583C>G (p.Leu195Val) c.715C>G (p.Leu239Val) c.697C>G (p.Leu233Val) | |
| 3 | g.46898699C>T | CA433471176 | PTH1R | c.676C>T (p.Leu226=) n.696C>T c.583C>T (p.Leu195=) c.715C>T (p.Leu239=) c.697C>T (p.Leu233=) | dbSNP gnomAD v2 |
| 3 | g.46898700T>A | CA352496312 | PTH1R | c.677T>A (p.Leu226Gln) n.697T>A c.584T>A (p.Leu195Gln) c.716T>A (p.Leu239Gln) c.698T>A (p.Leu233Gln) | |
| 3 | g.46898700T>C | CA352496316 | PTH1R | c.677T>C (p.Leu226Pro) n.697T>C c.584T>C (p.Leu195Pro) c.716T>C (p.Leu239Pro) c.698T>C (p.Leu233Pro) | |
| 3 | g.46898700T>G | CA352496321 | PTH1R | c.677T>G (p.Leu226Arg) n.697T>G c.584T>G (p.Leu195Arg) c.716T>G (p.Leu239Arg) c.698T>G (p.Leu233Arg) | dbSNP gnomAD v2 |
| 3 | g.46898700T= | CA1362310837 | PTH1R | c.677T= (p.Leu226=) n.697T= c.584T= (p.Leu195=) c.716T= (p.Leu239=) c.698T= (p.Leu233=) | |
| 3 | g.46898701G>A | CA433471192 | PTH1R | c.678G>A (p.Leu226=) n.698G>A c.585G>A (p.Leu195=) c.717G>A (p.Leu239=) c.699G>A (p.Leu233=) | |
| 3 | g.46898701G>C | CA433471197 | PTH1R | c.678G>C (p.Leu226=) n.698G>C c.585G>C (p.Leu195=) c.717G>C (p.Leu239=) c.699G>C (p.Leu233=) | |
| 3 | g.46898701G= | CA1362310841 | PTH1R | c.678G= (p.Leu226=) n.698G= c.585G= (p.Leu195=) c.717G= (p.Leu239=) c.699G= (p.Leu233=) | |
| 3 | g.46898701G>T | CA216064 | PTH1R | c.678G>T (p.Leu226=) n.698G>T c.585G>T (p.Leu195=) c.717G>T (p.Leu239=) c.699G>T (p.Leu233=) | ClinVar dbSNP |
| 3 | g.46898702T>A | CA352496339 | PTH1R | c.679T>A (p.Phe227Ile) n.699T>A c.586T>A (p.Phe196Ile) c.718T>A (p.Phe240Ile) c.700T>A (p.Phe234Ile) | |
| 3 | g.46898702T>C | CA352496343 | PTH1R | c.679T>C (p.Phe227Leu) n.699T>C c.586T>C (p.Phe196Leu) c.718T>C (p.Phe240Leu) c.700T>C (p.Phe234Leu) | |
| 3 | g.46898702T>G | CA352496333 | PTH1R | c.679T>G (p.Phe227Val) n.699T>G c.586T>G (p.Phe196Val) c.718T>G (p.Phe240Val) c.700T>G (p.Phe234Val) | |
| 3 | g.46898703T>A | CA352496355 | PTH1R | c.680T>A (p.Phe227Tyr) n.700T>A c.587T>A (p.Phe196Tyr) c.719T>A (p.Phe240Tyr) c.701T>A (p.Phe234Tyr) | |
| 3 | g.46898703T>C | CA352496348 | PTH1R | c.680T>C (p.Phe227Ser) n.700T>C c.587T>C (p.Phe196Ser) c.719T>C (p.Phe240Ser) c.701T>C (p.Phe234Ser) | |
| 3 | g.46898703T>G | CA352496352 | PTH1R | c.680T>G (p.Phe227Cys) n.700T>G c.587T>G (p.Phe196Cys) c.719T>G (p.Phe240Cys) c.701T>G (p.Phe234Cys) |