UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.27963595C>A | CA384339265 | PTHLH | c.277G>T (p.Val93Phe) c.301G>T (p.Val101Phe) | |
| 12 | g.27963595C= | CA2024096804 | PTHLH | c.277G= (p.Val93=) c.301G= (p.Val101=) | |
| 12 | g.27963595C>G | CA384339266 | PTHLH | c.277G>C (p.Val93Leu) c.301G>C (p.Val101Leu) | gnomAD v4 |
| 12 | g.27963595C>T | CA234898713 | PTHLH | c.277G>A (p.Val93Ile) c.301G>A (p.Val101Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.27963596G>A | CA479114639 | PTHLH | c.276C>T (p.Pro92=) c.300C>T (p.Pro100=) | gnomAD v4 |
| 12 | g.27963596G>C | CA6494934 | PTHLH | c.276C>G (p.Pro92=) c.300C>G (p.Pro100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963596G= | CA2024096808 | PTHLH | c.276C= (p.Pro92=) c.300C= (p.Pro100=) | |
| 12 | g.27963596G>T | CA479114640 | PTHLH | c.276C>A (p.Pro92=) c.300C>A (p.Pro100=) | |
| 12 | g.27963597G>A | CA384339267 | PTHLH | c.275C>T (p.Pro92Leu) c.299C>T (p.Pro100Leu) | |
| 12 | g.27963597G>C | CA384339268 | PTHLH | c.275C>G (p.Pro92Arg) c.299C>G (p.Pro100Arg) | |
| 12 | g.27963597G>T | CA384339269 | PTHLH | c.275C>A (p.Pro92His) c.299C>A (p.Pro100His) | |
| 12 | g.27963598G>A | CA6494935 | PTHLH | c.274C>T (p.Pro92Ser) c.298C>T (p.Pro100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963598G>C | CA384339270 | PTHLH | c.274C>G (p.Pro92Ala) c.298C>G (p.Pro100Ala) | |
| 12 | g.27963598G= | CA2024096813 | PTHLH | c.274C= (p.Pro92=) c.298C= (p.Pro100=) | |
| 12 | g.27963598G>T | CA384339271 | PTHLH | c.274C>A (p.Pro92Thr) c.298C>A (p.Pro100Thr) | |
| 12 | g.27963599G>A | CA479114641 | PTHLH | c.273C>T (p.His91=) c.297C>T (p.His99=) | |
| 12 | g.27963599G>C | CA384339272 | PTHLH | c.273C>G (p.His91Gln) c.297C>G (p.His99Gln) | |
| 12 | g.27963599G= | CA2024096817 | PTHLH | c.273C= (p.His91=) c.297C= (p.His99=) | |
| 12 | g.27963599G>T | CA384339273 | PTHLH | c.273C>A (p.His91Gln) c.297C>A (p.His99Gln) | dbSNP |
| 12 | g.27963600T>A | CA384339274 | PTHLH | c.272A>T (p.His91Leu) c.296A>T (p.His99Leu) | |
| 12 | g.27963600T>C | CA384339275 | PTHLH | c.272A>G (p.His91Arg) c.296A>G (p.His99Arg) | |
| 12 | g.27963600T>G | CA6494936 | PTHLH | c.272A>C (p.His91Pro) c.296A>C (p.His99Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963600T= | CA2024096820 | PTHLH | c.272A= (p.His91=) c.296A= (p.His99=) | |
| 12 | g.27963601G>A | CA6494937 | PTHLH | c.271C>T (p.His91Tyr) c.295C>T (p.His99Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963601G>C | CA384339276 | PTHLH | c.271C>G (p.His91Asp) c.295C>G (p.His99Asp) | |
| 12 | g.27963601G= | CA2024096822 | PTHLH | c.271C= (p.His91=) c.295C= (p.His99=) | |
| 12 | g.27963601G>T | CA384339277 | PTHLH | c.271C>A (p.His91Asn) c.295C>A (p.His99Asn) | |
| 12 | g.27963602G>A | CA479114642 | PTHLH | c.270C>T (p.Asn90=) c.294C>T (p.Asn98=) | |
| 12 | g.27963602G>C | CA384339278 | PTHLH | c.270C>G (p.Asn90Lys) c.294C>G (p.Asn98Lys) | |
| 12 | g.27963602G>T | CA384339279 | PTHLH | c.270C>A (p.Asn90Lys) c.294C>A (p.Asn98Lys) | |
| 12 | g.27963603T>A | CA384339280 | PTHLH | c.269A>T (p.Asn90Ile) c.293A>T (p.Asn98Ile) | |
| 12 | g.27963603T>C | CA384339281 | PTHLH | c.269A>G (p.Asn90Ser) c.293A>G (p.Asn98Ser) | |
| 12 | g.27963603T>G | CA384339282 | PTHLH | c.269A>C (p.Asn90Thr) c.293A>C (p.Asn98Thr) | |
| 12 | g.27963604T>A | CA384339283 | PTHLH | c.268A>T (p.Asn90Tyr) c.292A>T (p.Asn98Tyr) | |
| 12 | g.27963604T>C | CA384339284 | PTHLH | c.268A>G (p.Asn90Asp) c.292A>G (p.Asn98Asp) | |
| 12 | g.27963604T>G | CA384339285 | PTHLH | c.268A>C (p.Asn90His) c.292A>C (p.Asn98His) | |
| 12 | g.27963605C>A | CA384339286 | PTHLH | c.267G>T (p.Lys89Asn) c.291G>T (p.Lys97Asn) | |
| 12 | g.27963605C= | CA2024096826 | PTHLH | c.267G= (p.Lys89=) c.291G= (p.Lys97=) | |
| 12 | g.27963605C>G | CA384339287 | PTHLH | c.267G>C (p.Lys89Asn) c.291G>C (p.Lys97Asn) | |
| 12 | g.27963605C>T | CA234898714 | PTHLH | c.267G>A (p.Lys89=) c.291G>A (p.Lys97=) | dbSNP COSMIC COSMIC |
| 12 | g.27963606T>A | CA384339291 | PTHLH | c.266A>T (p.Lys89Met) c.290A>T (p.Lys97Met) | dbSNP gnomAD v2 |
| 12 | g.27963606T>C | CA384339290 | PTHLH | c.266A>G (p.Lys89Arg) c.290A>G (p.Lys97Arg) | |
| 12 | g.27963606T>G | CA384339289 | PTHLH | c.266A>C (p.Lys89Thr) c.290A>C (p.Lys97Thr) | |
| 12 | g.27963606T= | CA2024096829 | PTHLH | c.266A= (p.Lys89=) c.290A= (p.Lys97=) | |
| 12 | g.27963607T>A | CA384339292 | PTHLH | c.265A>T (p.Lys89Ter) c.289A>T (p.Lys97Ter) | |
| 12 | g.27963607T>C | CA384339293 | PTHLH | c.265A>G (p.Lys89Glu) c.289A>G (p.Lys97Glu) | gnomAD v4 |
| 12 | g.27963607T>G | CA384339294 | PTHLH | c.265A>C (p.Lys89Gln) c.289A>C (p.Lys97Gln) | |
| 12 | g.27963608T>A | CA479114643 | PTHLH | c.264A>T (p.Thr88=) c.288A>T (p.Thr96=) | |
| 12 | g.27963608T>C | CA479114644 | PTHLH | c.264A>G (p.Thr88=) c.288A>G (p.Thr96=) | |
| 12 | g.27963608T>G | CA479114645 | PTHLH | c.264A>C (p.Thr88=) c.288A>C (p.Thr96=) | |
| 12 | g.27963609G>A | CA384339295 | PTHLH | c.263C>T (p.Thr88Ile) c.287C>T (p.Thr96Ile) | |
| 12 | g.27963609G>C | CA384339296 | PTHLH | c.263C>G (p.Thr88Arg) c.287C>G (p.Thr96Arg) | |
| 12 | g.27963609G>T | CA384339297 | PTHLH | c.263C>A (p.Thr88Lys) c.287C>A (p.Thr96Lys) | |
| 12 | g.27963610T>A | CA384339300 | PTHLH | c.262A>T (p.Thr88Ser) c.286A>T (p.Thr96Ser) | gnomAD v4 |
| 12 | g.27963610T>C | CA384339298 | PTHLH | c.262A>G (p.Thr88Ala) c.286A>G (p.Thr96Ala) | |
| 12 | g.27963610T>G | CA384339299 | PTHLH | c.262A>C (p.Thr88Pro) c.286A>C (p.Thr96Pro) | |
| 12 | g.27963611G>A | CA479114646 | PTHLH | c.261C>T (p.Asn87=) c.285C>T (p.Asn95=) | |
| 12 | g.27963611G>C | CA384339301 | PTHLH | c.261C>G (p.Asn87Lys) c.285C>G (p.Asn95Lys) | |
| 12 | g.27963611G= | CA2024096832 | PTHLH | c.261C= (p.Asn87=) c.285C= (p.Asn95=) | |
| 12 | g.27963611G>T | CA6494938 | PTHLH | c.261C>A (p.Asn87Lys) c.285C>A (p.Asn95Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963612T>A | CA384339302 | PTHLH | c.260A>T (p.Asn87Ile) c.284A>T (p.Asn95Ile) | |
| 12 | g.27963612T>C | CA384339303 | PTHLH | c.260A>G (p.Asn87Ser) c.284A>G (p.Asn95Ser) | dbSNP gnomAD v4 |
| 12 | g.27963612T>G | CA384339304 | PTHLH | c.260A>C (p.Asn87Thr) c.284A>C (p.Asn95Thr) | |
| 12 | g.27963612T= | CA2024096834 | PTHLH | c.260A= (p.Asn87=) c.284A= (p.Asn95=) | |
| 12 | g.27963613T>A | CA384339305 | PTHLH | c.259A>T (p.Asn87Tyr) c.283A>T (p.Asn95Tyr) | |
| 12 | g.27963613T>C | CA384339307 | PTHLH | c.259A>G (p.Asn87Asp) c.283A>G (p.Asn95Asp) | |
| 12 | g.27963613T>G | CA384339306 | PTHLH | c.259A>C (p.Asn87His) c.283A>C (p.Asn95His) | gnomAD v4 |
| 12 | g.27963614G>A | CA479114647 | PTHLH | c.258C>T (p.Pro86=) c.282C>T (p.Pro94=) | |
| 12 | g.27963614G>C | CA479114648 | PTHLH | c.258C>G (p.Pro86=) c.282C>G (p.Pro94=) | dbSNP gnomAD v4 |
| 12 | g.27963614G= | CA2024096839 | PTHLH | c.258C= (p.Pro86=) c.282C= (p.Pro94=) | |
| 12 | g.27963614G>T | CA479114649 | PTHLH | c.258C>A (p.Pro86=) c.282C>A (p.Pro94=) | COSMIC COSMIC |
| 12 | g.27963616del | CA2695216205 | PTHLH | c.258del (p.Asn87ThrfsTer18) c.282del (p.Asn95ThrfsTer?) | |
| 12 | g.27963615G>A | CA384339308 | PTHLH | c.257C>T (p.Pro86Leu) c.281C>T (p.Pro94Leu) | |
| 12 | g.27963615G>C | CA384339309 | PTHLH | c.257C>G (p.Pro86Arg) c.281C>G (p.Pro94Arg) | |
| 12 | g.27963615G>T | CA384339310 | PTHLH | c.257C>A (p.Pro86His) c.281C>A (p.Pro94His) | |
| 12 | g.27963616G>A | CA384339311 | PTHLH | c.256C>T (p.Pro86Ser) c.280C>T (p.Pro94Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963616G>C | CA384339312 | PTHLH | c.256C>G (p.Pro86Ala) c.280C>G (p.Pro94Ala) | |
| 12 | g.27963616G= | CA2024096842 | PTHLH | c.256C= (p.Pro86=) c.280C= (p.Pro94=) | |
| 12 | g.27963616G>T | CA6494939 | PTHLH | c.256C>A (p.Pro86Thr) c.280C>A (p.Pro94Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963619_27963620del | CA2794966987 | PTHLH | c.255_256del (p.Pro86GlnfsTer12) c.279_280del (p.Pro94GlnfsTer12) | |
| 12 | g.27963617A>C | CA479114652 | PTHLH | c.255T>G (p.Ser85=) c.279T>G (p.Ser93=) | |
| 12 | g.27963617A>G | CA479114651 | PTHLH | c.255T>C (p.Ser85=) c.279T>C (p.Ser93=) | |
| 12 | g.27963617A>T | CA479114650 | PTHLH | c.255T>A (p.Ser85=) c.279T>A (p.Ser93=) | |
| 12 | g.27963618G>A | CA384339313 | PTHLH | c.254C>T (p.Ser85Phe) c.278C>T (p.Ser93Phe) | |
| 12 | g.27963618G>C | CA384339314 | PTHLH | c.254C>G (p.Ser85Cys) c.278C>G (p.Ser93Cys) | |
| 12 | g.27963618G>T | CA384339315 | PTHLH | c.254C>A (p.Ser85Tyr) c.278C>A (p.Ser93Tyr) | |
| 12 | g.27963619A>C | CA384339316 | PTHLH | c.253T>G (p.Ser85Ala) c.277T>G (p.Ser93Ala) | |
| 12 | g.27963619A>G | CA384339317 | PTHLH | c.253T>C (p.Ser85Pro) c.277T>C (p.Ser93Pro) | |
| 12 | g.27963619A>T | CA384339318 | PTHLH | c.253T>A (p.Ser85Thr) c.277T>A (p.Ser93Thr) | |
| 12 | g.27963620G>A | CA479114655 | PTHLH | c.252C>T (p.Pro84=) c.276C>T (p.Pro92=) | gnomAD v4 |
| 12 | g.27963620G>C | CA479114654 | PTHLH | c.252C>G (p.Pro84=) c.276C>G (p.Pro92=) | |
| 12 | g.27963620G>T | CA479114653 | PTHLH | c.252C>A (p.Pro84=) c.276C>A (p.Pro92=) | |
| 12 | g.27963620_27963621insTTT | CA2794966988 | PTHLH | c.251_252insAAA (p.Pro84_Ser85insAsn) c.275_276insAAA (p.Pro92_Ser93insAsn) | |
| 12 | g.27963621G>A | CA384339320 | PTHLH | c.251C>T (p.Pro84Leu) c.275C>T (p.Pro92Leu) | dbSNP gnomAD v2 |
| 12 | g.27963621G>C | CA384339321 | PTHLH | c.251C>G (p.Pro84Arg) c.275C>G (p.Pro92Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963621G= | CA2024096847 | PTHLH | c.251C= (p.Pro84=) c.275C= (p.Pro92=) | |
| 12 | g.27963621G>T | CA384339319 | PTHLH | c.251C>A (p.Pro84His) c.275C>A (p.Pro92His) | |
| 12 | g.27963622G>A | CA384339322 | PTHLH | c.250C>T (p.Pro84Ser) c.274C>T (p.Pro92Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963622G>C | CA6494940 | PTHLH | c.250C>G (p.Pro84Ala) c.274C>G (p.Pro92Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963622G= | CA2024096849 | PTHLH | c.250C= (p.Pro84=) c.274C= (p.Pro92=) | |
| 12 | g.27963622G>T | CA384339323 | PTHLH | c.250C>A (p.Pro84Thr) c.274C>A (p.Pro92Thr) | |
| 12 | g.27963622_27963623insGT | CA2794966989 | PTHLH | c.249_250insAC (p.Pro84ThrfsTer22) c.273_274insAC (p.Pro92ThrfsTer?) | |
| 12 | g.27963623C>A | CA384339324 | PTHLH | c.249G>T (p.Lys83Asn) c.273G>T (p.Lys91Asn) | |
| 12 | g.27963623C>G | CA384339325 | PTHLH | c.249G>C (p.Lys83Asn) c.273G>C (p.Lys91Asn) | |
| 12 | g.27963623C>T | CA479114656 | PTHLH | c.249G>A (p.Lys83=) c.273G>A (p.Lys91=) | gnomAD v4 |
| 12 | g.27963624T>A | CA384339326 | PTHLH | c.248A>T (p.Lys83Met) c.272A>T (p.Lys91Met) | |
| 12 | g.27963624T>C | CA6494941 | PTHLH | c.248A>G (p.Lys83Arg) c.272A>G (p.Lys91Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963624T>G | CA384339327 | PTHLH | c.248A>C (p.Lys83Thr) c.272A>C (p.Lys91Thr) | |
| 12 | g.27963624T= | CA2024096852 | PTHLH | c.248A= (p.Lys83=) c.272A= (p.Lys91=) | |
| 12 | g.27963625T>A | CA384339328 | PTHLH | c.247A>T (p.Lys83Ter) c.271A>T (p.Lys91Ter) | |
| 12 | g.27963625T>C | CA384339329 | PTHLH | c.247A>G (p.Lys83Glu) c.271A>G (p.Lys91Glu) | |
| 12 | g.27963625T>G | CA384339330 | PTHLH | c.247A>C (p.Lys83Gln) c.271A>C (p.Lys91Gln) | |
| 12 | g.27963626G>A | CA479114657 | PTHLH | c.246C>T (p.Ser82=) c.270C>T (p.Ser90=) | gnomAD v4 |
| 12 | g.27963626G>C | CA6494942 | PTHLH | c.246C>G (p.Ser82=) c.270C>G (p.Ser90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963626G= | CA2024096855 | PTHLH | c.246C= (p.Ser82=) c.270C= (p.Ser90=) | |
| 12 | g.27963626G>T | CA479114658 | PTHLH | c.246C>A (p.Ser82=) c.270C>A (p.Ser90=) | |
| 12 | g.27963627G>A | CA384339331 | PTHLH | c.245C>T (p.Ser82Phe) c.269C>T (p.Ser90Phe) | |
| 12 | g.27963627G>C | CA384339332 | PTHLH | c.245C>G (p.Ser82Cys) c.269C>G (p.Ser90Cys) | |
| 12 | g.27963627G>T | CA384339333 | PTHLH | c.245C>A (p.Ser82Tyr) c.269C>A (p.Ser90Tyr) | |
| 12 | g.27963628A>C | CA384339334 | PTHLH | c.244T>G (p.Ser82Ala) c.268T>G (p.Ser90Ala) | |
| 12 | g.27963628A>G | CA384339335 | PTHLH | c.244T>C (p.Ser82Pro) c.268T>C (p.Ser90Pro) | |
| 12 | g.27963628A>T | CA384339336 | PTHLH | c.244T>A (p.Ser82Thr) c.268T>A (p.Ser90Thr) | |
| 12 | g.27963629G>A | CA479114659 | PTHLH | c.243C>T (p.Asn81=) c.267C>T (p.Asn89=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.27963629G>C | CA384339337 | PTHLH | c.243C>G (p.Asn81Lys) c.267C>G (p.Asn89Lys) | |
| 12 | g.27963629G= | CA2024096860 | PTHLH | c.243C= (p.Asn81=) c.267C= (p.Asn89=) | |
| 12 | g.27963629G>T | CA384339338 | PTHLH | c.243C>A (p.Asn81Lys) c.267C>A (p.Asn89Lys) | |
| 12 | g.27963630T>A | CA384339341 | PTHLH | c.242A>T (p.Asn81Ile) c.266A>T (p.Asn89Ile) | |
| 12 | g.27963630T>C | CA384339340 | PTHLH | c.242A>G (p.Asn81Ser) c.266A>G (p.Asn89Ser) | |
| 12 | g.27963630T>G | CA384339339 | PTHLH | c.242A>C (p.Asn81Thr) c.266A>C (p.Asn89Thr) | |
| 12 | g.27963631T>A | CA384339342 | PTHLH | c.241A>T (p.Asn81Tyr) c.265A>T (p.Asn89Tyr) | COSMIC COSMIC |
| 12 | g.27963631T>C | CA384339343 | PTHLH | c.241A>G (p.Asn81Asp) c.265A>G (p.Asn89Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.27963631T>G | CA384339344 | PTHLH | c.241A>C (p.Asn81His) c.265A>C (p.Asn89His) | |
| 12 | g.27963631T= | CA2024096864 | PTHLH | c.241A= (p.Asn81=) c.265A= (p.Asn89=) | |
| 12 | g.27963632A>C | CA479080404 | PTHLH | c.240T>G (p.Pro80=) c.264T>G (p.Pro88=) | gnomAD v4 |
| 12 | g.27963632A>G | CA479080405 | PTHLH | c.240T>C (p.Pro80=) c.264T>C (p.Pro88=) | |
| 12 | g.27963632A>T | CA479080406 | PTHLH | c.240T>A (p.Pro80=) c.264T>A (p.Pro88=) | |
| 12 | g.27963633G>A | CA384339345 | PTHLH | c.239C>T (p.Pro80Leu) c.263C>T (p.Pro88Leu) | COSMIC |
| 12 | g.27963633G>C | CA384339346 | PTHLH | c.239C>G (p.Pro80Arg) c.263C>G (p.Pro88Arg) | |
| 12 | g.27963633G>T | CA384339347 | PTHLH | c.239C>A (p.Pro80His) c.263C>A (p.Pro88His) | gnomAD v4 |
| 12 | g.27963634G>A | CA384339348 | PTHLH | c.238C>T (p.Pro80Ser) c.262C>T (p.Pro88Ser) | |
| 12 | g.27963634G>C | CA384339349 | PTHLH | c.238C>G (p.Pro80Ala) c.262C>G (p.Pro88Ala) | |
| 12 | g.27963634G>T | CA384339350 | PTHLH | c.238C>A (p.Pro80Thr) c.262C>A (p.Pro88Thr) | |
| 12 | g.27963635G>A | CA479080407 | PTHLH | c.237C>T (p.Ser79=) c.261C>T (p.Ser87=) | |
| 12 | g.27963635G>C | CA479080408 | PTHLH | c.237C>G (p.Ser79=) c.261C>G (p.Ser87=) | gnomAD v4 |
| 12 | g.27963635G>T | CA479080409 | PTHLH | c.237C>A (p.Ser79=) c.261C>A (p.Ser87=) | |
| 12 | g.27963636G>A | CA384339351 | PTHLH | c.236C>T (p.Ser79Phe) c.260C>T (p.Ser87Phe) | |
| 12 | g.27963636G>C | CA384339352 | PTHLH | c.236C>G (p.Ser79Cys) c.260C>G (p.Ser87Cys) | |
| 12 | g.27963636G= | CA2024096868 | PTHLH | c.236C= (p.Ser79=) c.260C= (p.Ser87=) | |
| 12 | g.27963636G>T | CA384339353 | PTHLH | c.236C>A (p.Ser79Tyr) c.260C>A (p.Ser87Tyr) | dbSNP |
| 12 | g.27963637A= | CA2024096871 | PTHLH | c.235T= (p.Ser79=) c.259T= (p.Ser87=) | |
| 12 | g.27963637A>C | CA384339354 | PTHLH | c.235T>G (p.Ser79Ala) c.259T>G (p.Ser87Ala) | |
| 12 | g.27963637A>G | CA384339356 | PTHLH | c.235T>C (p.Ser79Pro) c.259T>C (p.Ser87Pro) | dbSNP |
| 12 | g.27963637A>T | CA384339355 | PTHLH | c.235T>A (p.Ser79Thr) c.259T>A (p.Ser87Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963638C>A | CA479080412 | PTHLH | c.234G>T (p.Val78=) c.258G>T (p.Val86=) | |
| 12 | g.27963638C>G | CA479080411 | PTHLH | c.234G>C (p.Val78=) c.258G>C (p.Val86=) | |
| 12 | g.27963638C>T | CA479080410 | PTHLH | c.234G>A (p.Val78=) c.258G>A (p.Val86=) | gnomAD v4 |
| 12 | g.27963639A= | CA2024096876 | PTHLH | c.233T= (p.Val78=) c.257T= (p.Val86=) | |
| 12 | g.27963639A>C | CA384339357 | PTHLH | c.233T>G (p.Val78Gly) c.257T>G (p.Val86Gly) | |
| 12 | g.27963639A>G | CA6494943 | PTHLH | c.233T>C (p.Val78Ala) c.257T>C (p.Val86Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963639A>T | CA384339358 | PTHLH | c.233T>A (p.Val78Glu) c.257T>A (p.Val86Glu) | |
| 12 | g.27963640C>A | CA384339359 | PTHLH | c.232G>T (p.Val78Leu) c.256G>T (p.Val86Leu) | |
| 12 | g.27963640C>G | CA384339360 | PTHLH | c.232G>C (p.Val78Leu) c.256G>C (p.Val86Leu) | gnomAD v4 |
| 12 | g.27963640C>T | CA384339361 | PTHLH | c.232G>A (p.Val78Met) c.256G>A (p.Val86Met) | gnomAD v4 |
| 12 | g.27963641C>A | CA384339362 | PTHLH | c.231G>T (p.Glu77Asp) c.255G>T (p.Glu85Asp) | |
| 12 | g.27963641C>G | CA384339363 | PTHLH | c.231G>C (p.Glu77Asp) c.255G>C (p.Glu85Asp) | |
| 12 | g.27963641C>T | CA479080413 | PTHLH | c.231G>A (p.Glu77=) c.255G>A (p.Glu85=) | |
| 12 | g.27963642T>A | CA384339364 | PTHLH | c.230A>T (p.Glu77Val) c.254A>T (p.Glu85Val) | |
| 12 | g.27963642T>C | CA384339365 | PTHLH | c.230A>G (p.Glu77Gly) c.254A>G (p.Glu85Gly) | |
| 12 | g.27963642T>G | CA384339366 | PTHLH | c.230A>C (p.Glu77Ala) c.254A>C (p.Glu85Ala) | |
| 12 | g.27963643C>A | CA384339369 | PTHLH | c.229G>T (p.Glu77Ter) c.253G>T (p.Glu85Ter) | |
| 12 | g.27963643C>G | CA384339367 | PTHLH | c.229G>C (p.Glu77Gln) c.253G>C (p.Glu85Gln) | COSMIC COSMIC |
| 12 | g.27963643C>T | CA384339368 | PTHLH | c.229G>A (p.Glu77Lys) c.253G>A (p.Glu85Lys) | gnomAD v4 |
| 12 | g.27963644C>A | CA479080415 | PTHLH | c.228G>T (p.Ser76=) c.252G>T (p.Ser84=) | |
| 12 | g.27963644C= | CA2024096880 | PTHLH | c.228G= (p.Ser76=) c.252G= (p.Ser84=) | |
| 12 | g.27963644C>G | CA479080414 | PTHLH | c.228G>C (p.Ser76=) c.252G>C (p.Ser84=) | |
| 12 | g.27963644C>T | CA6494944 | PTHLH | c.228G>A (p.Ser76=) c.252G>A (p.Ser84=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.27963645G>A | CA234898715 | PTHLH | c.227C>T (p.Ser76Leu) c.251C>T (p.Ser84Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.27963645G>C | CA384339370 | PTHLH | c.227C>G (p.Ser76Trp) c.251C>G (p.Ser84Trp) | |
| 12 | g.27963645G= | CA2024096885 | PTHLH | c.227C= (p.Ser76=) c.251C= (p.Ser84=) | |
| 12 | g.27963645G>T | CA384339371 | PTHLH | c.227C>A (p.Ser76Ter) c.251C>A (p.Ser84Ter) | COSMIC COSMIC |
| 12 | g.27963646A>C | CA384339372 | PTHLH | c.226T>G (p.Ser76Ala) c.250T>G (p.Ser84Ala) | |
| 12 | g.27963646A>G | CA384339373 | PTHLH | c.226T>C (p.Ser76Pro) c.250T>C (p.Ser84Pro) | |
| 12 | g.27963646A>T | CA384339374 | PTHLH | c.226T>A (p.Ser76Thr) c.250T>A (p.Ser84Thr) | |
| 12 | g.27963647G>A | CA6494945 | PTHLH | c.225C>T (p.Thr75=) c.249C>T (p.Thr83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963647G>C | CA479080416 | PTHLH | c.225C>G (p.Thr75=) c.249C>G (p.Thr83=) | |
| 12 | g.27963647G= | CA2024096889 | PTHLH | c.225C= (p.Thr75=) c.249C= (p.Thr83=) | |
| 12 | g.27963647G>T | CA479080417 | PTHLH | c.225C>A (p.Thr75=) c.249C>A (p.Thr83=) | |
| 12 | g.27963648G>A | CA384339375 | PTHLH | c.224C>T (p.Thr75Ile) c.248C>T (p.Thr83Ile) | ClinVar gnomAD v4 |
| 12 | g.27963648G>C | CA384339376 | PTHLH | c.224C>G (p.Thr75Ser) c.248C>G (p.Thr83Ser) | |
| 12 | g.27963648G>T | CA384339377 | PTHLH | c.224C>A (p.Thr75Asn) c.248C>A (p.Thr83Asn) | |
| 12 | g.27963649T>A | CA384339379 | PTHLH | c.223A>T (p.Thr75Ser) c.247A>T (p.Thr83Ser) | |
| 12 | g.27963649T>C | CA384339380 | PTHLH | c.223A>G (p.Thr75Ala) c.247A>G (p.Thr83Ala) | |
| 12 | g.27963649T>G | CA384339378 | PTHLH | c.223A>C (p.Thr75Pro) c.247A>C (p.Thr83Pro) | |
| 12 | g.27963650A>C | CA479080420 | PTHLH | c.222T>G (p.Ala74=) c.246T>G (p.Ala82=) | |
| 12 | g.27963650A>G | CA479080418 | PTHLH | c.222T>C (p.Ala74=) c.246T>C (p.Ala82=) | |
| 12 | g.27963650A>T | CA479080419 | PTHLH | c.222T>A (p.Ala74=) c.246T>A (p.Ala82=) | |
| 12 | g.27963651G>A | CA384339382 | PTHLH | c.221C>T (p.Ala74Val) c.245C>T (p.Ala82Val) | COSMIC COSMIC |
| 12 | g.27963651G>C | CA384339381 | PTHLH | c.221C>G (p.Ala74Gly) c.245C>G (p.Ala82Gly) | |
| 12 | g.27963651G= | CA2024096895 | PTHLH | c.221C= (p.Ala74=) c.245C= (p.Ala82=) | |
| 12 | g.27963651G>T | CA6494946 | PTHLH | c.221C>A (p.Ala74Asp) c.245C>A (p.Ala82Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963652C>A | CA384339383 | PTHLH | c.220G>T (p.Ala74Ser) c.244G>T (p.Ala82Ser) | |
| 12 | g.27963652C>G | CA384339384 | PTHLH | c.220G>C (p.Ala74Pro) c.244G>C (p.Ala82Pro) | gnomAD v4 |
| 12 | g.27963652C>T | CA384339385 | PTHLH | c.220G>A (p.Ala74Thr) c.244G>A (p.Ala82Thr) | |
| 12 | g.27963653T>A | CA384339386 | PTHLH | c.219A>T (p.Arg73Ser) c.243A>T (p.Arg81Ser) | |
| 12 | g.27963653T>C | CA479080421 | PTHLH | c.219A>G (p.Arg73=) c.243A>G (p.Arg81=) | |
| 12 | g.27963653T>G | CA384339387 | PTHLH | c.219A>C (p.Arg73Ser) c.243A>C (p.Arg81Ser) | |
| 12 | g.27963654C>A | CA384339388 | PTHLH | c.218G>T (p.Arg73Ile) c.242G>T (p.Arg81Ile) | |
| 12 | g.27963654C= | CA2024096898 | PTHLH | c.218G= (p.Arg73=) c.242G= (p.Arg81=) | |
| 12 | g.27963654C>G | CA6494947 | PTHLH | c.218G>C (p.Arg73Thr) c.242G>C (p.Arg81Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963654C>T | CA384339389 | PTHLH | c.218G>A (p.Arg73Lys) c.242G>A (p.Arg81Lys) | gnomAD v4 |
| 12 | g.27963655T>A | CA384339390 | PTHLH | c.217A>T (p.Arg73Ter) c.241A>T (p.Arg81Ter) | COSMIC COSMIC |
| 12 | g.27963655T>C | CA384339391 | PTHLH | c.217A>G (p.Arg73Gly) c.241A>G (p.Arg81Gly) | |
| 12 | g.27963655T>G | CA479080422 | PTHLH | c.217A>C (p.Arg73=) c.241A>C (p.Arg81=) | |
| 12 | g.27963656G>A | CA479080423 | PTHLH | c.216C>T (p.Ile72=) c.240C>T (p.Ile80=) | |
| 12 | g.27963656G>C | CA384339392 | PTHLH | c.216C>G (p.Ile72Met) c.240C>G (p.Ile80Met) | |
| 12 | g.27963656G>T | CA479080424 | PTHLH | c.216C>A (p.Ile72=) c.240C>A (p.Ile80=) | |
| 12 | g.27963657A>C | CA384339395 | PTHLH | c.215T>G (p.Ile72Ser) c.239T>G (p.Ile80Ser) | |
| 12 | g.27963657A>G | CA384339393 | PTHLH | c.215T>C (p.Ile72Thr) c.239T>C (p.Ile80Thr) | |
| 12 | g.27963657A>T | CA384339394 | PTHLH | c.215T>A (p.Ile72Asn) c.239T>A (p.Ile80Asn) | |
| 12 | g.27963658T>A | CA384339396 | PTHLH | c.214A>T (p.Ile72Phe) c.238A>T (p.Ile80Phe) | |
| 12 | g.27963658T>C | CA384339397 | PTHLH | c.214A>G (p.Ile72Val) c.238A>G (p.Ile80Val) | |
| 12 | g.27963658T>G | CA384339398 | PTHLH | c.214A>C (p.Ile72Leu) c.238A>C (p.Ile80Leu) | |
| 12 | g.27963659T>A | CA384339399 | PTHLH | c.213A>T (p.Glu71Asp) c.237A>T (p.Glu79Asp) | |
| 12 | g.27963659T>C | CA479080425 | PTHLH | c.213A>G (p.Glu71=) c.237A>G (p.Glu79=) | dbSNP gnomAD v4 |
| 12 | g.27963659T>G | CA384339400 | PTHLH | c.213A>C (p.Glu71Asp) c.237A>C (p.Glu79Asp) | |
| 12 | g.27963659T= | CA2024096901 | PTHLH | c.213A= (p.Glu71=) c.237A= (p.Glu79=) | |
| 12 | g.27963660T>A | CA384339401 | PTHLH | c.212A>T (p.Glu71Val) c.236A>T (p.Glu79Val) | |
| 12 | g.27963660T>C | CA384339402 | PTHLH | c.212A>G (p.Glu71Gly) c.236A>G (p.Glu79Gly) | |
| 12 | g.27963660T>G | CA384339403 | PTHLH | c.212A>C (p.Glu71Ala) c.236A>C (p.Glu79Ala) | |
| 12 | g.27963661C>A | CA384339404 | PTHLH | c.211G>T (p.Glu71Ter) c.235G>T (p.Glu79Ter) | |
| 12 | g.27963661C>G | CA384339405 | PTHLH | c.211G>C (p.Glu71Gln) c.235G>C (p.Glu79Gln) | gnomAD v4 |
| 12 | g.27963661C>T | CA384339406 | PTHLH | c.211G>A (p.Glu71Lys) c.235G>A (p.Glu79Lys) | COSMIC COSMIC |
| 12 | g.27963662A>C | CA479080426 | PTHLH | c.210T>G (p.Ala70=) c.234T>G (p.Ala78=) | gnomAD v4 |
| 12 | g.27963662A>G | CA479080427 | PTHLH | c.210T>C (p.Ala70=) c.234T>C (p.Ala78=) | gnomAD v4 |
| 12 | g.27963662A>T | CA479080428 | PTHLH | c.210T>A (p.Ala70=) c.234T>A (p.Ala78=) | |
| 12 | g.27963663G>A | CA384339409 | PTHLH | c.209C>T (p.Ala70Val) c.233C>T (p.Ala78Val) | gnomAD v4 |
| 12 | g.27963663G>C | CA384339408 | PTHLH | c.209C>G (p.Ala70Gly) c.233C>G (p.Ala78Gly) | |
| 12 | g.27963663G>T | CA384339407 | PTHLH | c.209C>A (p.Ala70Asp) c.233C>A (p.Ala78Asp) | |
| 12 | g.27963664C>A | CA384339410 | PTHLH | c.208G>T (p.Ala70Ser) c.232G>T (p.Ala78Ser) | |
| 12 | g.27963664C>G | CA384339411 | PTHLH | c.208G>C (p.Ala70Pro) c.232G>C (p.Ala78Pro) | |
| 12 | g.27963664C>T | CA384339412 | PTHLH | c.208G>A (p.Ala70Thr) c.232G>A (p.Ala78Thr) | |
| 12 | g.27963665del | CA2573148483 | PTHLH | c.207del (p.Ala70LeufsTer?) c.231del (p.Ala78LeufsTer?) | ClinVar dbSNP |
| 12 | g.27963665T>A | CA479080429 | PTHLH | c.207A>T (p.Thr69=) c.231A>T (p.Thr77=) | |
| 12 | g.27963665T>C | CA479080430 | PTHLH | c.207A>G (p.Thr69=) c.231A>G (p.Thr77=) | dbSNP |
| 12 | g.27963665T>G | CA479080431 | PTHLH | c.207A>C (p.Thr69=) c.231A>C (p.Thr77=) | |
| 12 | g.27963665T= | CA2024096904 | PTHLH | c.207A= (p.Thr69=) c.231A= (p.Thr77=) | |
| 12 | g.27963666G>A | CA384339413 | PTHLH | c.206C>T (p.Thr69Ile) c.230C>T (p.Thr77Ile) | |
| 12 | g.27963666G>C | CA384339414 | PTHLH | c.206C>G (p.Thr69Arg) c.230C>G (p.Thr77Arg) | |
| 12 | g.27963666G>T | CA384339415 | PTHLH | c.206C>A (p.Thr69Lys) c.230C>A (p.Thr77Lys) | |
| 12 | g.27963667T>A | CA384339418 | PTHLH | c.205A>T (p.Thr69Ser) c.229A>T (p.Thr77Ser) | |
| 12 | g.27963667T>C | CA384339416 | PTHLH | c.205A>G (p.Thr69Ala) c.229A>G (p.Thr77Ala) | |
| 12 | g.27963667T>G | CA384339417 | PTHLH | c.205A>C (p.Thr69Pro) c.229A>C (p.Thr77Pro) | |
| 12 | g.27963668G>A | CA479080432 | PTHLH | c.204C>T (p.His68=) c.228C>T (p.His76=) | |
| 12 | g.27963668G>C | CA6494948 | PTHLH | c.204C>G (p.His68Gln) c.228C>G (p.His76Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963668G= | CA2024096908 | PTHLH | c.204C= (p.His68=) c.228C= (p.His76=) | |
| 12 | g.27963668G>T | CA384339419 | PTHLH | c.204C>A (p.His68Gln) c.228C>A (p.His76Gln) | |
| 12 | g.27963669T>A | CA384339420 | PTHLH | c.203A>T (p.His68Leu) c.227A>T (p.His76Leu) | |
| 12 | g.27963669T>C | CA384339421 | PTHLH | c.203A>G (p.His68Arg) c.227A>G (p.His76Arg) | |
| 12 | g.27963669T>G | CA384339422 | PTHLH | c.203A>C (p.His68Pro) c.227A>C (p.His76Pro) | |
| 12 | g.27963670G>A | CA384339423 | PTHLH | c.202C>T (p.His68Tyr) c.226C>T (p.His76Tyr) | |
| 12 | g.27963670G>C | CA384339425 | PTHLH | c.202C>G (p.His68Asp) c.226C>G (p.His76Asp) | |
| 12 | g.27963670G>T | CA384339424 | PTHLH | c.202C>A (p.His68Asn) c.226C>A (p.His76Asn) | |
| 12 | g.27963671G>A | CA479080434 | PTHLH | c.201C>T (p.Ile67=) c.225C>T (p.Ile75=) | dbSNP gnomAD v4 |
| 12 | g.27963671G>C | CA384339426 | PTHLH | c.201C>G (p.Ile67Met) c.225C>G (p.Ile75Met) | |
| 12 | g.27963671G= | CA2024096911 | PTHLH | c.201C= (p.Ile67=) c.225C= (p.Ile75=) | |
| 12 | g.27963671G>T | CA479080435 | PTHLH | c.201C>A (p.Ile67=) c.225C>A (p.Ile75=) | |
| 12 | g.27963672A= | CA2024096915 | PTHLH | c.200T= (p.Ile67=) c.224T= (p.Ile75=) | |
| 12 | g.27963672A>C | CA384339427 | PTHLH | c.200T>G (p.Ile67Ser) c.224T>G (p.Ile75Ser) | |
| 12 | g.27963672A>G | CA6494949 | PTHLH | c.200T>C (p.Ile67Thr) c.224T>C (p.Ile75Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.27963672A>T | CA384339428 | PTHLH | c.200T>A (p.Ile67Asn) c.224T>A (p.Ile75Asn) | |
| 12 | g.27963673T>A | CA384339429 | PTHLH | c.199A>T (p.Ile67Phe) c.223A>T (p.Ile75Phe) | |
| 12 | g.27963673T>C | CA384339430 | PTHLH | c.199A>G (p.Ile67Val) c.223A>G (p.Ile75Val) | |
| 12 | g.27963673T>G | CA384339431 | PTHLH | c.199A>C (p.Ile67Leu) c.223A>C (p.Ile75Leu) | |
| 12 | g.27963674T>A | CA384339432 | PTHLH | c.198A>T (p.Glu66Asp) c.222A>T (p.Glu74Asp) | dbSNP COSMIC COSMIC |
| 12 | g.27963674T>C | CA479080437 | PTHLH | c.198A>G (p.Glu66=) c.222A>G (p.Glu74=) | |
| 12 | g.27963674T>G | CA384339433 | PTHLH | c.198A>C (p.Glu66Asp) c.222A>C (p.Glu74Asp) | |
| 12 | g.27963674T= | CA2024096918 | PTHLH | c.198A= (p.Glu66=) c.222A= (p.Glu74=) | |
| 12 | g.27963675T>A | CA384339434 | PTHLH | c.197A>T (p.Glu66Val) c.221A>T (p.Glu74Val) | |
| 12 | g.27963675T>C | CA384339435 | PTHLH | c.197A>G (p.Glu66Gly) c.221A>G (p.Glu74Gly) | |
| 12 | g.27963675T>G | CA384339436 | PTHLH | c.197A>C (p.Glu66Ala) c.221A>C (p.Glu74Ala) | |
| 12 | g.27963676C>A | CA384339438 | PTHLH | c.196G>T (p.Glu66Ter) c.220G>T (p.Glu74Ter) | |
| 12 | g.27963676C= | CA2024096921 | PTHLH | c.196G= (p.Glu66=) c.220G= (p.Glu74=) | |
| 12 | g.27963676C>G | CA384339439 | PTHLH | c.196G>C (p.Glu66Gln) c.220G>C (p.Glu74Gln) | |
| 12 | g.27963676C>T | CA384339437 | PTHLH | c.196G>A (p.Glu66Lys) c.220G>A (p.Glu74Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.27963677T>A | CA479080438 | PTHLH | c.195A>T (p.Ala65=) c.219A>T (p.Ala73=) | |
| 12 | g.27963677T>C | CA479080439 | PTHLH | c.195A>G (p.Ala65=) c.219A>G (p.Ala73=) | |
| 12 | g.27963677T>G | CA479080440 | PTHLH | c.195A>C (p.Ala65=) c.219A>C (p.Ala73=) | |
| 12 | g.27963678G>A | CA384339442 | PTHLH | c.194C>T (p.Ala65Val) c.218C>T (p.Ala73Val) | |
| 12 | g.27963678G>C | CA384339440 | PTHLH | c.194C>G (p.Ala65Gly) c.218C>G (p.Ala73Gly) | |
| 12 | g.27963678G>T | CA384339441 | PTHLH | c.194C>A (p.Ala65Glu) c.218C>A (p.Ala73Glu) | |
| 12 | g.27963679C>A | CA6494950 | PTHLH | c.193G>T (p.Ala65Ser) c.217G>T (p.Ala73Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963679C= | CA2024096923 | PTHLH | c.193G= (p.Ala65=) c.217G= (p.Ala73=) | |
| 12 | g.27963679C>G | CA384339443 | PTHLH | c.193G>C (p.Ala65Pro) c.217G>C (p.Ala73Pro) | |
| 12 | g.27963679C>T | CA384339444 | PTHLH | c.193G>A (p.Ala65Thr) c.217G>A (p.Ala73Thr) | dbSNP COSMIC COSMIC |
| 12 | g.27963680G>A | CA479080441 | PTHLH | c.192C>T (p.Ile64=) c.216C>T (p.Ile72=) | dbSNP |
| 12 | g.27963680G>C | CA384339445 | PTHLH | c.192C>G (p.Ile64Met) c.216C>G (p.Ile72Met) | |
| 12 | g.27963680G= | CA2024096926 | PTHLH | c.192C= (p.Ile64=) c.216C= (p.Ile72=) | |
| 12 | g.27963680G>T | CA479080442 | PTHLH | c.192C>A (p.Ile64=) c.216C>A (p.Ile72=) | |
| 12 | g.27963681A>C | CA384339446 | PTHLH | c.191T>G (p.Ile64Ser) c.215T>G (p.Ile72Ser) | |
| 12 | g.27963681A>G | CA384339447 | PTHLH | c.191T>C (p.Ile64Thr) c.215T>C (p.Ile72Thr) | |
| 12 | g.27963681A>T | CA384339448 | PTHLH | c.191T>A (p.Ile64Asn) c.215T>A (p.Ile72Asn) | |
| 12 | g.27963682T>A | CA384339449 | PTHLH | c.190A>T (p.Ile64Phe) c.214A>T (p.Ile72Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963682T>C | CA384339450 | PTHLH | c.190A>G (p.Ile64Val) c.214A>G (p.Ile72Val) | |
| 12 | g.27963682T>G | CA384339451 | PTHLH | c.190A>C (p.Ile64Leu) c.214A>C (p.Ile72Leu) | |
| 12 | g.27963682T= | CA2024096928 | PTHLH | c.190A= (p.Ile64=) c.214A= (p.Ile72=) | |
| 12 | g.27963683C>A | CA479080443 | PTHLH | c.189G>T (p.Leu63=) c.213G>T (p.Leu71=) | |
| 12 | g.27963683C>G | CA479080444 | PTHLH | c.189G>C (p.Leu63=) c.213G>C (p.Leu71=) | |
| 12 | g.27963683C>T | CA479080445 | PTHLH | c.189G>A (p.Leu63=) c.213G>A (p.Leu71=) | gnomAD v4 |
| 12 | g.27963684A>C | CA384339454 | PTHLH | c.188T>G (p.Leu63Arg) c.212T>G (p.Leu71Arg) | |
| 12 | g.27963684A>G | CA384339452 | PTHLH | c.188T>C (p.Leu63Pro) c.212T>C (p.Leu71Pro) | |
| 12 | g.27963684A>T | CA384339453 | PTHLH | c.188T>A (p.Leu63Gln) c.212T>A (p.Leu71Gln) | |
| 12 | g.27963685G>A | CA479080446 | PTHLH | c.187C>T (p.Leu63=) c.211C>T (p.Leu71=) | |
| 12 | g.27963685G>C | CA384339455 | PTHLH | c.187C>G (p.Leu63Val) c.211C>G (p.Leu71Val) | |
| 12 | g.27963685G>T | CA384339456 | PTHLH | c.187C>A (p.Leu63Met) c.211C>A (p.Leu71Met) | |
| 12 | g.27963686A= | CA2024096933 | PTHLH | c.186T= (p.His62=) c.210T= (p.His70=) | |
| 12 | g.27963686A>C | CA384339457 | PTHLH | c.186T>G (p.His62Gln) c.210T>G (p.His70Gln) | |
| 12 | g.27963686A>G | CA479080447 | PTHLH | c.186T>C (p.His62=) c.210T>C (p.His70=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.27963686A>T | CA384339458 | PTHLH | c.186T>A (p.His62Gln) c.210T>A (p.His70Gln) | |
| 12 | g.27963687T>A | CA384339459 | PTHLH | c.185A>T (p.His62Leu) c.209A>T (p.His70Leu) | |
| 12 | g.27963687T>C | CA384339460 | PTHLH | c.185A>G (p.His62Arg) c.209A>G (p.His70Arg) | gnomAD v4 COSMIC COSMIC |
| 12 | g.27963687T>G | CA384339461 | PTHLH | c.185A>C (p.His62Pro) c.209A>C (p.His70Pro) | |
| 12 | g.27963688G>A | CA384339462 | PTHLH | c.184C>T (p.His62Tyr) c.208C>T (p.His70Tyr) | |
| 12 | g.27963688G>C | CA384339463 | PTHLH | c.184C>G (p.His62Asp) c.208C>G (p.His70Asp) | |
| 12 | g.27963688G>T | CA384339464 | PTHLH | c.184C>A (p.His62Asn) c.208C>A (p.His70Asn) | |
| 12 | g.27963689G>A | CA479080449 | PTHLH | c.183C>T (p.His61=) c.207C>T (p.His69=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963689G>C | CA384339465 | PTHLH | c.183C>G (p.His61Gln) c.207C>G (p.His69Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.27963689G= | CA2024096937 | PTHLH | c.183C= (p.His61=) c.207C= (p.His69=) | |
| 12 | g.27963689G>T | CA384339466 | PTHLH | c.183C>A (p.His61Gln) c.207C>A (p.His69Gln) | |
| 12 | g.27963690T>A | CA384339469 | PTHLH | c.182A>T (p.His61Leu) c.206A>T (p.His69Leu) | |
| 12 | g.27963690T>C | CA384339468 | PTHLH | c.182A>G (p.His61Arg) c.206A>G (p.His69Arg) | |
| 12 | g.27963690T>G | CA384339467 | PTHLH | c.182A>C (p.His61Pro) c.206A>C (p.His69Pro) | |
| 12 | g.27963691G>A | CA384339472 | PTHLH | c.181C>T (p.His61Tyr) c.205C>T (p.His69Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.27963691G>C | CA384339470 | PTHLH | c.181C>G (p.His61Asp) c.205C>G (p.His69Asp) | |
| 12 | g.27963691G>T | CA384339471 | PTHLH | c.181C>A (p.His61Asn) c.205C>A (p.His69Asn) | |
| 12 | g.27963695_27963698del | CA2697559144 | PTHLH | c.178_181del (p.Leu60ThrfsTer3) c.202_205del (p.Leu68ThrfsTer3) | ClinVar |
| 12 | g.27963692A>C | CA479080452 | PTHLH | c.180T>G (p.Leu60=) c.204T>G (p.Leu68=) | |
| 12 | g.27963692A>G | CA479080451 | PTHLH | c.180T>C (p.Leu60=) c.204T>C (p.Leu68=) | |
| 12 | g.27963692A>T | CA479080450 | PTHLH | c.180T>A (p.Leu60=) c.204T>A (p.Leu68=) | |
| 12 | g.27963693A= | CA2024096940 | PTHLH | c.179T= (p.Leu60=) c.203T= (p.Leu68=) | |
| 12 | g.27963693A>C | CA384339473 | PTHLH | c.179T>G (p.Leu60Arg) c.203T>G (p.Leu68Arg) | |
| 12 | g.27963693A>G | CA123415 | PTHLH | c.179T>C (p.Leu60Pro) c.203T>C (p.Leu68Pro) | ClinVar dbSNP |
| 12 | g.27963693A>T | CA384339474 | PTHLH | c.179T>A (p.Leu60His) c.203T>A (p.Leu68His) | |
| 12 | g.27963694G>A | CA384339475 | PTHLH | c.178C>T (p.Leu60Phe) c.202C>T (p.Leu68Phe) | |
| 12 | g.27963694G>C | CA384339476 | PTHLH | c.178C>G (p.Leu60Val) c.202C>G (p.Leu68Val) | |
| 12 | g.27963694G>T | CA384339477 | PTHLH | c.178C>A (p.Leu60Ile) c.202C>A (p.Leu68Ile) | |
| 12 | g.27963695G>A | CA479080453 | PTHLH | c.177C>T (p.Phe59=) c.201C>T (p.Phe67=) | |
| 12 | g.27963695G>C | CA384339478 | PTHLH | c.177C>G (p.Phe59Leu) c.201C>G (p.Phe67Leu) | |
| 12 | g.27963695G>T | CA384339479 | PTHLH | c.177C>A (p.Phe59Leu) c.201C>A (p.Phe67Leu) | gnomAD v4 COSMIC COSMIC |