OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.13492598_13492600del | CA2612561044 | PTH | c.155_157del (p.Val52del) c.251_253del (p.Val84del) | gnomAD v4 |
| 11 | g.13492599C>A | CA379724723 | PTH | c.154G>T (p.Val52Leu) c.250G>T (p.Val84Leu) | |
| 11 | g.13492599C>G | CA379724724 | PTH | c.154G>C (p.Val52Leu) c.250G>C (p.Val84Leu) | |
| 11 | g.13492599C>T | CA379724725 | PTH | c.154G>A (p.Val52Ile) c.250G>A (p.Val84Ile) | gnomAD v4 |
| 11 | g.13492600T>A | CA379724726 | PTH | c.153A>T (p.Arg51Ser) c.249A>T (p.Arg83Ser) | |
| 11 | g.13492600T>C | CA473263546 | PTH | c.153A>G (p.Arg51=) c.249A>G (p.Arg83=) | dbSNP gnomAD v2 |
| 11 | g.13492600T>G | CA379724727 | PTH | c.153A>C (p.Arg51Ser) c.249A>C (p.Arg83Ser) | |
| 11 | g.13492600T= | CA1953324339 | PTH | c.153A= (p.Arg51=) c.249A= (p.Arg83=) | |
| 11 | g.13492601C>A | CA379724729 | PTH | c.152G>T (p.Arg51Ile) c.248G>T (p.Arg83Ile) | |
| 11 | g.13492601C= | CA1953324344 | PTH | c.152G= (p.Arg51=) c.248G= (p.Arg83=) | |
| 11 | g.13492601C>G | CA5893186 | PTH | c.152G>C (p.Arg51Thr) c.248G>C (p.Arg83Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492601C>T | CA379724728 | PTH | c.152G>A (p.Arg51Lys) c.248G>A (p.Arg83Lys) | gnomAD v4 |
| 11 | g.13492602T>A | CA379724730 | PTH | c.151A>T (p.Arg51Ter) c.247A>T (p.Arg83Ter) | |
| 11 | g.13492602T>C | CA379724731 | PTH | c.151A>G (p.Arg51Gly) c.247A>G (p.Arg83Gly) | |
| 11 | g.13492602T>G | CA473263547 | PTH | c.151A>C (p.Arg51=) c.247A>C (p.Arg83=) | |
| 11 | g.13492603C>A | CA379724732 | PTH | c.150G>T (p.Glu50Asp) c.246G>T (p.Glu82Asp) | |
| 11 | g.13492603C= | CA1953324347 | PTH | c.150G= (p.Glu50=) c.246G= (p.Glu82=) | |
| 11 | g.13492603C>G | CA379724733 | PTH | c.150G>C (p.Glu50Asp) c.246G>C (p.Glu82Asp) | gnomAD v4 |
| 11 | g.13492603C>T | CA473263548 | PTH | c.150G>A (p.Glu50=) c.246G>A (p.Glu82=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492604T>A | CA379724734 | PTH | c.149A>T (p.Glu50Val) c.245A>T (p.Glu82Val) | |
| 11 | g.13492604T>C | CA379724735 | PTH | c.149A>G (p.Glu50Gly) c.245A>G (p.Glu82Gly) | |
| 11 | g.13492604T>G | CA379724736 | PTH | c.149A>C (p.Glu50Ala) c.245A>C (p.Glu82Ala) | |
| 11 | g.13492605C>A | CA379724737 | PTH | c.148G>T (p.Glu50Ter) c.244G>T (p.Glu82Ter) | |
| 11 | g.13492605C>G | CA379724738 | PTH | c.148G>C (p.Glu50Gln) c.244G>C (p.Glu82Gln) | gnomAD v4 |
| 11 | g.13492605C>T | CA379724739 | PTH | c.148G>A (p.Glu50Lys) c.244G>A (p.Glu82Lys) | |
| 11 | g.13492606C>A | CA379724740 | PTH | c.147G>T (p.Met49Ile) c.243G>T (p.Met81Ile) | |
| 11 | g.13492606C>G | CA379724741 | PTH | c.147G>C (p.Met49Ile) c.243G>C (p.Met81Ile) | |
| 11 | g.13492606C>T | CA379724742 | PTH | c.147G>A (p.Met49Ile) c.243G>A (p.Met81Ile) | gnomAD v4 |
| 11 | g.13492607A>C | CA379724743 | PTH | c.146T>G (p.Met49Arg) c.242T>G (p.Met81Arg) | |
| 11 | g.13492607A>G | CA379724745 | PTH | c.146T>C (p.Met49Thr) c.242T>C (p.Met81Thr) | gnomAD v4 |
| 11 | g.13492607A>T | CA379724744 | PTH | c.146T>A (p.Met49Lys) c.242T>A (p.Met81Lys) | |
| 11 | g.13492608T>A | CA379724746 | PTH | c.145A>T (p.Met49Leu) c.241A>T (p.Met81Leu) | |
| 11 | g.13492608T>C | CA217889590 | PTH | c.145A>G (p.Met49Val) c.241A>G (p.Met81Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492608T>G | CA379724747 | PTH | c.145A>C (p.Met49Leu) c.241A>C (p.Met81Leu) | |
| 11 | g.13492608T= | CA1953324352 | PTH | c.145A= (p.Met49=) c.241A= (p.Met81=) | |
| 11 | g.13492609C>A | CA473263549 | PTH | c.144G>T (p.Ser48=) c.240G>T (p.Ser80=) | |
| 11 | g.13492609C= | CA1953324357 | PTH | c.144G= (p.Ser48=) c.240G= (p.Ser80=) | |
| 11 | g.13492609C>G | CA473263550 | PTH | c.144G>C (p.Ser48=) c.240G>C (p.Ser80=) | |
| 11 | g.13492609C>T | CA5893187 | PTH | c.144G>A (p.Ser48=) c.240G>A (p.Ser80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492610G>A | CA5893188 | PTH | c.143C>T (p.Ser48Leu) c.239C>T (p.Ser80Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.13492610G>C | CA379724748 | PTH | c.143C>G (p.Ser48Trp) c.239C>G (p.Ser80Trp) | |
| 11 | g.13492610G= | CA1953324361 | PTH | c.143C= (p.Ser48=) c.239C= (p.Ser80=) | |
| 11 | g.13492610G>T | CA379724749 | PTH | c.143C>A (p.Ser48Ter) c.239C>A (p.Ser80Ter) | |
| 11 | g.13492611A>C | CA379724750 | PTH | c.142T>G (p.Ser48Ala) c.238T>G (p.Ser80Ala) | |
| 11 | g.13492611A>G | CA379724751 | PTH | c.142T>C (p.Ser48Pro) c.238T>C (p.Ser80Pro) | |
| 11 | g.13492611A>T | CA379724752 | PTH | c.142T>A (p.Ser48Thr) c.238T>A (p.Ser80Thr) | |
| 11 | g.13492612G>A | CA473263551 | PTH | c.141C>T (p.Asn47=) c.237C>T (p.Asn79=) | gnomAD v4 |
| 11 | g.13492612G>C | CA379724753 | PTH | c.141C>G (p.Asn47Lys) c.237C>G (p.Asn79Lys) | |
| 11 | g.13492612G>T | CA379724754 | PTH | c.141C>A (p.Asn47Lys) c.237C>A (p.Asn79Lys) | |
| 11 | g.13492613T>A | CA379724757 | PTH | c.140A>T (p.Asn47Ile) c.236A>T (p.Asn79Ile) | |
| 11 | g.13492613T>C | CA379724755 | PTH | c.140A>G (p.Asn47Ser) c.236A>G (p.Asn79Ser) | |
| 11 | g.13492613T>G | CA379724756 | PTH | c.140A>C (p.Asn47Thr) c.236A>C (p.Asn79Thr) | |
| 11 | g.13492614T>A | CA379724758 | PTH | c.139A>T (p.Asn47Tyr) c.235A>T (p.Asn79Tyr) | |
| 11 | g.13492614T>C | CA379724759 | PTH | c.139A>G (p.Asn47Asp) c.235A>G (p.Asn79Asp) | |
| 11 | g.13492614T>G | CA379724760 | PTH | c.139A>C (p.Asn47His) c.235A>C (p.Asn79His) | |
| 11 | g.13492615C>A | CA473263553 | PTH | c.138G>T (p.Leu46=) c.234G>T (p.Leu78=) | |
| 11 | g.13492615C>G | CA473263554 | PTH | c.138G>C (p.Leu46=) c.234G>C (p.Leu78=) | |
| 11 | g.13492615C>T | CA473263552 | PTH | c.138G>A (p.Leu46=) c.234G>A (p.Leu78=) | |
| 11 | g.13492616A>C | CA379724761 | PTH | c.137T>G (p.Leu46Arg) c.233T>G (p.Leu78Arg) | |
| 11 | g.13492616A>G | CA379724762 | PTH | c.137T>C (p.Leu46Pro) c.233T>C (p.Leu78Pro) | |
| 11 | g.13492616A>T | CA379724763 | PTH | c.137T>A (p.Leu46Gln) c.233T>A (p.Leu78Gln) | |
| 11 | g.13492617G>A | CA473263555 | PTH | c.136C>T (p.Leu46=) c.232C>T (p.Leu78=) | dbSNP gnomAD v4 |
| 11 | g.13492617G>C | CA379724764 | PTH | c.136C>G (p.Leu46Val) c.232C>G (p.Leu78Val) | dbSNP gnomAD v2 |
| 11 | g.13492617G= | CA1953324370 | PTH | c.136C= (p.Leu46=) c.232C= (p.Leu78=) | |
| 11 | g.13492617G>T | CA217889597 | PTH | c.136C>A (p.Leu46Met) c.232C>A (p.Leu78Met) | dbSNP gnomAD v4 |
| 11 | g.13492618A= | CA1953324379 | PTH | c.135T= (p.His45=) c.231T= (p.His77=) | |
| 11 | g.13492618A>C | CA379724765 | PTH | c.135T>G (p.His45Gln) c.231T>G (p.His77Gln) | |
| 11 | g.13492618A>G | CA5893189 | PTH | c.135T>C (p.His45=) c.231T>C (p.His77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492618A>T | CA379724766 | PTH | c.135T>A (p.His45Gln) c.231T>A (p.His77Gln) | COSMIC |
| 11 | g.13492619T>A | CA379724769 | PTH | c.134A>T (p.His45Leu) c.230A>T (p.His77Leu) | gnomAD v4 |
| 11 | g.13492619T>C | CA379724768 | PTH | c.134A>G (p.His45Arg) c.230A>G (p.His77Arg) | |
| 11 | g.13492619T>G | CA379724767 | PTH | c.134A>C (p.His45Pro) c.230A>C (p.His77Pro) | |
| 11 | g.13492619dup | CA2612561045 | PTH | c.134dup (p.His45GlnfsTer13) c.230dup (p.His77GlnfsTer13) | gnomAD v4 |
| 11 | g.13492620G>A | CA379724770 | PTH | c.133C>T (p.His45Tyr) c.229C>T (p.His77Tyr) | gnomAD v4 |
| 11 | g.13492620G>C | CA379724772 | PTH | c.133C>G (p.His45Asp) c.229C>G (p.His77Asp) | |
| 11 | g.13492620G>T | CA379724771 | PTH | c.133C>A (p.His45Asn) c.229C>A (p.His77Asn) | gnomAD v4 |
| 11 | g.13492621T>A | CA379724773 | PTH | c.132A>T (p.Lys44Asn) c.228A>T (p.Lys76Asn) | |
| 11 | g.13492621T>C | CA473263556 | PTH | c.132A>G (p.Lys44=) c.228A>G (p.Lys76=) | |
| 11 | g.13492621T>G | CA379724774 | PTH | c.132A>C (p.Lys44Asn) c.228A>C (p.Lys76Asn) | |
| 11 | g.13492622T>A | CA379724775 | PTH | c.131A>T (p.Lys44Ile) c.227A>T (p.Lys76Ile) | |
| 11 | g.13492622T>C | CA379724776 | PTH | c.131A>G (p.Lys44Arg) c.227A>G (p.Lys76Arg) | |
| 11 | g.13492622T>G | CA379724777 | PTH | c.131A>C (p.Lys44Thr) c.227A>C (p.Lys76Thr) | |
| 11 | g.13492623T>A | CA379724778 | PTH | c.130A>T (p.Lys44Ter) c.226A>T (p.Lys76Ter) | |
| 11 | g.13492623T>C | CA379724779 | PTH | c.130A>G (p.Lys44Glu) c.226A>G (p.Lys76Glu) | |
| 11 | g.13492623T>G | CA379724780 | PTH | c.130A>C (p.Lys44Gln) c.226A>C (p.Lys76Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492623T= | CA1953324387 | PTH | c.130A= (p.Lys44=) c.226A= (p.Lys76=) | |
| 11 | g.13492624T>A | CA473263557 | PTH | c.129A>T (p.Gly43=) c.225A>T (p.Gly75=) | |
| 11 | g.13492624T>C | CA5893190 | PTH | c.129A>G (p.Gly43=) c.225A>G (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492624T>G | CA473263558 | PTH | c.129A>C (p.Gly43=) c.225A>C (p.Gly75=) | |
| 11 | g.13492624T= | CA1953324392 | PTH | c.129A= (p.Gly43=) c.225A= (p.Gly75=) | |
| 11 | g.13492625C>A | CA379724781 | PTH | c.128G>T (p.Gly43Val) c.224G>T (p.Gly75Val) | |
| 11 | g.13492625C>G | CA379724782 | PTH | c.128G>C (p.Gly43Ala) c.224G>C (p.Gly75Ala) | |
| 11 | g.13492625C>T | CA379724783 | PTH | c.128G>A (p.Gly43Glu) c.224G>A (p.Gly75Glu) | gnomAD v4 |
| 11 | g.13492626C>A | CA379724784 | PTH | c.127G>T (p.Gly43Ter) c.223G>T (p.Gly75Ter) | |
| 11 | g.13492626C= | CA1953324398 | PTH | c.127G= (p.Gly43=) c.223G= (p.Gly75=) | |
| 11 | g.13492626C>G | CA5893191 | PTH | c.127G>C (p.Gly43Arg) c.223G>C (p.Gly75Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492626C>T | CA379724785 | PTH | c.127G>A (p.Gly43Arg) c.223G>A (p.Gly75Arg) | gnomAD v4 |
| 11 | g.13492627C>A | CA473263559 | PTH | c.126G>T (p.Leu42=) c.222G>T (p.Leu74=) | |
| 11 | g.13492627C= | CA1953324400 | PTH | c.126G= (p.Leu42=) c.222G= (p.Leu74=) | |
| 11 | g.13492627C>G | CA473263560 | PTH | c.126G>C (p.Leu42=) c.222G>C (p.Leu74=) | |
| 11 | g.13492627C>T | CA5893192 | PTH | c.126G>A (p.Leu42=) c.222G>A (p.Leu74=) | dbSNP ExAC gnomAD v2 |
| 11 | g.13492628A>C | CA379724786 | PTH | c.125T>G (p.Leu42Arg) c.221T>G (p.Leu74Arg) | |
| 11 | g.13492628A>G | CA379724787 | PTH | c.125T>C (p.Leu42Pro) c.221T>C (p.Leu74Pro) | gnomAD v4 |
| 11 | g.13492628A>T | CA379724788 | PTH | c.125T>A (p.Leu42Gln) c.221T>A (p.Leu74Gln) | |
| 11 | g.13492629G>A | CA5893193 | PTH | c.124C>T (p.Leu42=) c.220C>T (p.Leu74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492629G>C | CA379724789 | PTH | c.124C>G (p.Leu42Val) c.220C>G (p.Leu74Val) | |
| 11 | g.13492629G= | CA1953324410 | PTH | c.124C= (p.Leu42=) c.220C= (p.Leu74=) | |
| 11 | g.13492629G>T | CA379724790 | PTH | c.124C>A (p.Leu42Met) c.220C>A (p.Leu74Met) | |
| 11 | g.13492630G>A | CA5893194 | PTH | c.123C>T (p.Asn41=) c.219C>T (p.Asn73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492630G>C | CA379724791 | PTH | c.123C>G (p.Asn41Lys) c.219C>G (p.Asn73Lys) | |
| 11 | g.13492630G= | CA1953324424 | PTH | c.123C= (p.Asn41=) c.219C= (p.Asn73=) | |
| 11 | g.13492630G>T | CA379724792 | PTH | c.123C>A (p.Asn41Lys) c.219C>A (p.Asn73Lys) | ClinVar dbSNP |
| 11 | g.13492631T>A | CA379724794 | PTH | c.122A>T (p.Asn41Ile) c.218A>T (p.Asn73Ile) | |
| 11 | g.13492631T>C | CA216050 | PTH | c.122A>G (p.Asn41Ser) c.218A>G (p.Asn73Ser) | ClinVar dbSNP |
| 11 | g.13492631T>G | CA379724793 | PTH | c.122A>C (p.Asn41Thr) c.218A>C (p.Asn73Thr) | |
| 11 | g.13492631T= | CA1953324431 | PTH | c.122A= (p.Asn41=) c.218A= (p.Asn73=) | |
| 11 | g.13492632T>A | CA379724795 | PTH | c.121A>T (p.Asn41Tyr) c.217A>T (p.Asn73Tyr) | |
| 11 | g.13492632T>C | CA379724796 | PTH | c.121A>G (p.Asn41Asp) c.217A>G (p.Asn73Asp) | gnomAD v4 |
| 11 | g.13492632T>G | CA379724797 | PTH | c.121A>C (p.Asn41His) c.217A>C (p.Asn73His) | |
| 11 | g.13492633A= | CA1953324440 | PTH | c.120T= (p.His40=) c.216T= (p.His72=) | |
| 11 | g.13492633A>C | CA379724798 | PTH | c.120T>G (p.His40Gln) c.216T>G (p.His72Gln) | |
| 11 | g.13492633A>G | CA217889629 | PTH | c.120T>C (p.His40=) c.216T>C (p.His72=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.13492633A>T | CA379724799 | PTH | c.120T>A (p.His40Gln) c.216T>A (p.His72Gln) | |
| 11 | g.13492634T>A | CA379724802 | PTH | c.119A>T (p.His40Leu) c.215A>T (p.His72Leu) | |
| 11 | g.13492634T>C | CA379724801 | PTH | c.119A>G (p.His40Arg) c.215A>G (p.His72Arg) | |
| 11 | g.13492634T>G | CA379724800 | PTH | c.119A>C (p.His40Pro) c.215A>C (p.His72Pro) | |
| 11 | g.13492635G>A | CA379724803 | PTH | c.118C>T (p.His40Tyr) c.214C>T (p.His72Tyr) | gnomAD v4 |
| 11 | g.13492635G>C | CA379724804 | PTH | c.118C>G (p.His40Asp) c.214C>G (p.His72Asp) | |
| 11 | g.13492635G>T | CA379724805 | PTH | c.118C>A (p.His40Asn) c.214C>A (p.His72Asn) | |
| 11 | g.13492636C>A | CA379724806 | PTH | c.117G>T (p.Met39Ile) c.213G>T (p.Met71Ile) | |
| 11 | g.13492636C>G | CA379724807 | PTH | c.117G>C (p.Met39Ile) c.213G>C (p.Met71Ile) | |
| 11 | g.13492636C>T | CA379724808 | PTH | c.117G>A (p.Met39Ile) c.213G>A (p.Met71Ile) | |
| 11 | g.13492637A= | CA1953324444 | PTH | c.116T= (p.Met39=) c.212T= (p.Met71=) | |
| 11 | g.13492637A>C | CA379724809 | PTH | c.116T>G (p.Met39Arg) c.212T>G (p.Met71Arg) | |
| 11 | g.13492637A>G | CA217889633 | PTH | c.116T>C (p.Met39Thr) c.212T>C (p.Met71Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492637A>T | CA379724810 | PTH | c.116T>A (p.Met39Lys) c.212T>A (p.Met71Lys) | |
| 11 | g.13492638T>A | CA379724811 | PTH | c.115A>T (p.Met39Leu) c.211A>T (p.Met71Leu) | |
| 11 | g.13492638T>C | CA379724812 | PTH | c.115A>G (p.Met39Val) c.211A>G (p.Met71Val) | |
| 11 | g.13492638T>G | CA379724813 | PTH | c.115A>C (p.Met39Leu) c.211A>C (p.Met71Leu) | |
| 11 | g.13492639A>C | CA473263561 | PTH | c.114T>G (p.Leu38=) c.210T>G (p.Leu70=) | |
| 11 | g.13492639A>G | CA473263563 | PTH | c.114T>C (p.Leu38=) c.210T>C (p.Leu70=) | |
| 11 | g.13492639A>T | CA473263562 | PTH | c.114T>A (p.Leu38=) c.210T>A (p.Leu70=) | |
| 11 | g.13492640A>C | CA379724814 | PTH | c.113T>G (p.Leu38Arg) c.209T>G (p.Leu70Arg) | |
| 11 | g.13492640A>G | CA379724815 | PTH | c.113T>C (p.Leu38Pro) c.209T>C (p.Leu70Pro) | |
| 11 | g.13492640A>T | CA379724816 | PTH | c.113T>A (p.Leu38His) c.209T>A (p.Leu70His) | |
| 11 | g.13492641G>A | CA379724817 | PTH | c.112C>T (p.Leu38Phe) c.208C>T (p.Leu70Phe) | |
| 11 | g.13492641G>C | CA379724818 | PTH | c.112C>G (p.Leu38Val) c.208C>G (p.Leu70Val) | |
| 11 | g.13492641G>T | CA379724819 | PTH | c.112C>A (p.Leu38Ile) c.208C>A (p.Leu70Ile) | |
| 11 | g.13492642C>A | CA379724820 | PTH | c.111G>T (p.Gln37His) c.207G>T (p.Gln69His) | |
| 11 | g.13492642C= | CA1953324449 | PTH | c.111G= (p.Gln37=) c.207G= (p.Gln69=) | |
| 11 | g.13492642C>G | CA379724821 | PTH | c.111G>C (p.Gln37His) c.207G>C (p.Gln69His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492642C>T | CA473263564 | PTH | c.111G>A (p.Gln37=) c.207G>A (p.Gln69=) | |
| 11 | g.13492643T>A | CA379724824 | PTH | c.110A>T (p.Gln37Leu) c.206A>T (p.Gln69Leu) | |
| 11 | g.13492643T>C | CA379724823 | PTH | c.110A>G (p.Gln37Arg) c.206A>G (p.Gln69Arg) | gnomAD v4 |
| 11 | g.13492643T>G | CA379724822 | PTH | c.110A>C (p.Gln37Pro) c.206A>C (p.Gln69Pro) | |
| 11 | g.13492644G>A | CA379724825 | PTH | c.109C>T (p.Gln37Ter) c.205C>T (p.Gln69Ter) | gnomAD v4 COSMIC |
| 11 | g.13492644G>C | CA379724827 | PTH | c.109C>G (p.Gln37Glu) c.205C>G (p.Gln69Glu) | |
| 11 | g.13492644G>T | CA379724826 | PTH | c.109C>A (p.Gln37Lys) c.205C>A (p.Gln69Lys) | |
| 11 | g.13492645T>A | CA473263565 | PTH | c.108A>T (p.Ile36=) c.204A>T (p.Ile68=) | |
| 11 | g.13492645T>C | CA379724828 | PTH | c.108A>G (p.Ile36Met) c.204A>G (p.Ile68Met) | |
| 11 | g.13492645T>G | CA473263566 | PTH | c.108A>C (p.Ile36=) c.204A>C (p.Ile68=) | |
| 11 | g.13492646A>C | CA379724831 | PTH | c.107T>G (p.Ile36Arg) c.203T>G (p.Ile68Arg) | |
| 11 | g.13492646A>G | CA379724829 | PTH | c.107T>C (p.Ile36Thr) c.203T>C (p.Ile68Thr) | |
| 11 | g.13492646A>T | CA379724830 | PTH | c.107T>A (p.Ile36Lys) c.203T>A (p.Ile68Lys) | |
| 11 | g.13492647T>A | CA379724832 | PTH | c.106A>T (p.Ile36Leu) c.202A>T (p.Ile68Leu) | |
| 11 | g.13492647T>C | CA379724833 | PTH | c.106A>G (p.Ile36Val) c.202A>G (p.Ile68Val) | |
| 11 | g.13492647T>G | CA379724834 | PTH | c.106A>C (p.Ile36Leu) c.202A>C (p.Ile68Leu) | |
| 11 | g.13492648T>A | CA379724835 | PTH | c.105A>T (p.Glu35Asp) c.201A>T (p.Glu67Asp) | |
| 11 | g.13492648T>C | CA473263567 | PTH | c.105A>G (p.Glu35=) c.201A>G (p.Glu67=) | gnomAD v4 |
| 11 | g.13492648T>G | CA379724836 | PTH | c.105A>C (p.Glu35Asp) c.201A>C (p.Glu67Asp) | |
| 11 | g.13492649T>A | CA379724837 | PTH | c.104A>T (p.Glu35Val) c.200A>T (p.Glu67Val) | |
| 11 | g.13492649T>C | CA379724838 | PTH | c.104A>G (p.Glu35Gly) c.200A>G (p.Glu67Gly) | |
| 11 | g.13492649T>G | CA379724839 | PTH | c.104A>C (p.Glu35Ala) c.200A>C (p.Glu67Ala) | |
| 11 | g.13492650C>A | CA379724840 | PTH | c.103G>T (p.Glu35Ter) c.199G>T (p.Glu67Ter) | |
| 11 | g.13492650C>G | CA379724841 | PTH | c.103G>C (p.Glu35Gln) c.199G>C (p.Glu67Gln) | |
| 11 | g.13492650C>T | CA379724842 | PTH | c.103G>A (p.Glu35Lys) c.199G>A (p.Glu67Lys) | |
| 11 | g.13492651A>C | CA379724844 | PTH | c.102T>G (p.Ser34Arg) c.198T>G (p.Ser66Arg) | |
| 11 | g.13492651A>G | CA473263568 | PTH | c.102T>C (p.Ser34=) c.198T>C (p.Ser66=) | |
| 11 | g.13492651A>T | CA379724843 | PTH | c.102T>A (p.Ser34Arg) c.198T>A (p.Ser66Arg) | |
| 11 | g.13492652C>A | CA379724845 | PTH | c.101G>T (p.Ser34Ile) c.197G>T (p.Ser66Ile) | dbSNP |
| 11 | g.13492652C= | CA1953324456 | PTH | c.101G= (p.Ser34=) c.197G= (p.Ser66=) | |
| 11 | g.13492652C>G | CA379724846 | PTH | c.101G>C (p.Ser34Thr) c.197G>C (p.Ser66Thr) | |
| 11 | g.13492652C>T | CA379724847 | PTH | c.101G>A (p.Ser34Asn) c.197G>A (p.Ser66Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492653T>A | CA379724848 | PTH | c.100A>T (p.Ser34Cys) c.196A>T (p.Ser66Cys) | |
| 11 | g.13492653T>C | CA5893195 | PTH | c.100A>G (p.Ser34Gly) c.196A>G (p.Ser66Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492653T>G | CA379724849 | PTH | c.100A>C (p.Ser34Arg) c.196A>C (p.Ser66Arg) | dbSNP |
| 11 | g.13492653T= | CA1953324467 | PTH | c.100A= (p.Ser34=) c.196A= (p.Ser66=) | |
| 11 | g.13492654del | CA2612561046 | PTH | c.99del (p.Ser34ValfsTer13) c.195del (p.Ser66ValfsTer13) | gnomAD v4 |
| 11 | g.13492654C>A | CA473263569 | PTH | c.99G>T (p.Val33=) c.195G>T (p.Val65=) | |
| 11 | g.13492654C>G | CA473263570 | PTH | c.99G>C (p.Val33=) c.195G>C (p.Val65=) | |
| 11 | g.13492654C>T | CA473263571 | PTH | c.99G>A (p.Val33=) c.195G>A (p.Val65=) | |
| 11 | g.13492655A>C | CA379724850 | PTH | c.98T>G (p.Val33Gly) c.194T>G (p.Val65Gly) | |
| 11 | g.13492655A>G | CA379724851 | PTH | c.98T>C (p.Val33Ala) c.194T>C (p.Val65Ala) | |
| 11 | g.13492655A>T | CA379724852 | PTH | c.98T>A (p.Val33Glu) c.194T>A (p.Val65Glu) | ClinVar |
| 11 | g.13492656C>A | CA379724853 | PTH | c.97G>T (p.Val33Leu) c.193G>T (p.Val65Leu) | |
| 11 | g.13492656C= | CA1953324473 | PTH | c.97G= (p.Val33=) c.193G= (p.Val65=) | |
| 11 | g.13492656C>G | CA5893196 | PTH | c.97G>C (p.Val33Leu) c.193G>C (p.Val65Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492656C>T | CA379724854 | PTH | c.97G>A (p.Val33Met) c.193G>A (p.Val65Met) | |
| 11 | g.13492657A>C | CA473263572 | PTH | c.96T>G (p.Ser32=) c.192T>G (p.Ser64=) | |
| 11 | g.13492657A>G | CA473263573 | PTH | c.96T>C (p.Ser32=) c.192T>C (p.Ser64=) | |
| 11 | g.13492657A>T | CA473263574 | PTH | c.96T>A (p.Ser32=) c.192T>A (p.Ser64=) | |
| 11 | g.13492658G>A | CA379724857 | PTH | c.95C>T (p.Ser32Phe) c.191C>T (p.Ser64Phe) | |
| 11 | g.13492658G>C | CA379724856 | PTH | c.95C>G (p.Ser32Cys) c.191C>G (p.Ser64Cys) | dbSNP |
| 11 | g.13492658G>T | CA379724855 | PTH | c.95C>A (p.Ser32Tyr) c.191C>A (p.Ser64Tyr) | |
| 11 | g.13492659A>C | CA379724858 | PTH | c.94T>G (p.Ser32Ala) c.190T>G (p.Ser64Ala) | |
| 11 | g.13492659A>G | CA379724859 | PTH | c.94T>C (p.Ser32Pro) c.190T>C (p.Ser64Pro) | |
| 11 | g.13492659A>T | CA379724860 | PTH | c.94T>A (p.Ser32Thr) c.190T>A (p.Ser64Thr) | |
| 11 | g.13492660T>A | CA379724861 | PTH | c.93A>T (p.Arg31Ser) c.189A>T (p.Arg63Ser) | |
| 11 | g.13492660T>C | CA473263575 | PTH | c.93A>G (p.Arg31=) c.189A>G (p.Arg63=) | |
| 11 | g.13492660T>G | CA379724862 | PTH | c.93A>C (p.Arg31Ser) c.189A>C (p.Arg63Ser) | |
| 11 | g.13492661C>A | CA379724863 | PTH | c.92G>T (p.Arg31Ile) c.188G>T (p.Arg63Ile) | |
| 11 | g.13492661C>G | CA379724864 | PTH | c.92G>C (p.Arg31Thr) c.188G>C (p.Arg63Thr) | |
| 11 | g.13492661C>T | CA379724865 | PTH | c.92G>A (p.Arg31Lys) c.188G>A (p.Arg63Lys) | |
| 11 | g.13492662T>A | CA379724866 | PTH | c.91A>T (p.Arg31Ter) c.187A>T (p.Arg63Ter) | |
| 11 | g.13492662T>C | CA379724867 | PTH | c.91A>G (p.Arg31Gly) c.187A>G (p.Arg63Gly) | |
| 11 | g.13492662T>G | CA473263576 | PTH | c.91A>C (p.Arg31=) c.187A>C (p.Arg63=) | |
| 11 | g.13492663C>A | CA379724868 | PTH | c.90G>T (p.Lys30Asn) c.186G>T (p.Lys62Asn) | |
| 11 | g.13492663C= | CA1953324477 | PTH | c.90G= (p.Lys30=) c.186G= (p.Lys62=) | |
| 11 | g.13492663C>G | CA379724869 | PTH | c.90G>C (p.Lys30Asn) c.186G>C (p.Lys62Asn) | dbSNP gnomAD v4 |
| 11 | g.13492663C>T | CA473263577 | PTH | c.90G>A (p.Lys30=) c.186G>A (p.Lys62=) | |
| 11 | g.13492663_13492664delinsCT | CA1953324479 | PTH | c.89_90delinsAG (p.Lys30=) c.185_186delinsAG (p.Lys62=) | |
| 11 | g.13492664T>A | CA379724872 | PTH | c.89A>T (p.Lys30Met) c.185A>T (p.Lys62Met) | |
| 11 | g.13492664T>C | CA379724871 | PTH | c.89A>G (p.Lys30Arg) c.185A>G (p.Lys62Arg) | |
| 11 | g.13492664T>G | CA379724870 | PTH | c.89A>C (p.Lys30Thr) c.185A>C (p.Lys62Thr) | |
| 11 | g.13492665del | CA1953324485 | PTH | c.89del (p.Lys30ArgfsTer4) c.185del (p.Lys62ArgfsTer4) | dbSNP |
| 11 | g.13492665T>A | CA379724873 | PTH | c.88A>T (p.Lys30Ter) c.184A>T (p.Lys62Ter) | |
| 11 | g.13492665T>C | CA379724874 | PTH | c.88A>G (p.Lys30Glu) c.184A>G (p.Lys62Glu) | |
| 11 | g.13492665T>G | CA379724875 | PTH | c.88A>C (p.Lys30Gln) c.184A>C (p.Lys62Gln) | dbSNP |
| 11 | g.13492665T= | CA1953324487 | PTH | c.88A= (p.Lys30=) c.184A= (p.Lys62=) | |
| 11 | g.13492666C>A | CA379724876 | PTH | c.87G>T (p.Lys29Asn) c.183G>T (p.Lys61Asn) | |
| 11 | g.13492666C= | CA1953324492 | PTH | c.87G= (p.Lys29=) c.183G= (p.Lys61=) | |
| 11 | g.13492666C>G | CA379724877 | PTH | c.87G>C (p.Lys29Asn) c.183G>C (p.Lys61Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492666C>T | CA473263578 | PTH | c.87G>A (p.Lys29=) c.183G>A (p.Lys61=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492667C>A | CA379724878 | PTH | c.87-1G>T (n.87-1G>T) c.183-1G>T (n.183-1G>T) | |
| 11 | g.13492667C= | CA1953324500 | PTH | c.87-1G= (n.87-1G=) c.183-1G= (n.183-1G=) | |
| 11 | g.13492667C>G | CA379724879 | PTH | c.87-1G>C (n.87-1G>C) c.183-1G>C (n.183-1G>C) | |
| 11 | g.13492667C>T | CA217889645 | PTH | c.87-1G>A (n.87-1G>A) c.183-1G>A (n.183-1G>A) | dbSNP gnomAD v2 |
| 11 | g.13492668T>A | CA379724880 | PTH | c.87-2A>T (n.87-2A>T) c.183-2A>T (n.183-2A>T) | |
| 11 | g.13492668T>C | CA379724881 | PTH | c.87-2A>G (n.87-2A>G) c.183-2A>G (n.183-2A>G) | |
| 11 | g.13492668T>G | CA379724882 | PTH | c.87-2A>C (n.87-2A>C) c.183-2A>C (n.183-2A>C) | |
| 11 | g.13492670G>C | CA5893197 | PTH | c.87-4C>G (n.87-4C>G) c.183-4C>G (n.183-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492670G= | CA1953324506 | PTH | c.87-4C= (n.87-4C=) c.183-4C= (n.183-4C=) | |
| 11 | g.13492670G>T | CA597903323 | PTH | c.87-4C>A (n.87-4C>A) c.183-4C>A (n.183-4C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492671G>A | CA645591440 | PTH | c.87-5C>T (n.87-5C>T) c.183-5C>T (n.183-5C>T) | COSMIC |
| 11 | g.13492671_13492672delinsGA | CA1953324510 | PTH | c.87-6_87-5delinsTC (n.87-6_87-5delinsTC) c.183-6_183-5delinsTC (n.183-6_183-5delinsTC) | |
| 11 | g.13492673del | CA673824196 | PTH | c.87-6del (n.87-6del) c.183-6del (n.183-6del) | dbSNP |
| 11 | g.13492673A>G | CA2612561047 | PTH | c.87-7T>C (n.87-7T>C) c.183-7T>C (n.183-7T>C) | gnomAD v4 |
| 11 | g.13492676A>G | CA2612561048 | PTH | c.87-10T>C (n.87-10T>C) c.183-10T>C (n.183-10T>C) | gnomAD v4 |
| 11 | g.13492683C= | CA1953324520 | PTH | c.87-17G= (n.87-17G=) c.183-17G= (n.183-17G=) | |
| 11 | g.13492683C>T | CA5893198 | PTH | c.87-17G>A (n.87-17G>A) c.183-17G>A (n.183-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492683_13492687delinsCAGAG | CA1953324518 | PTH | c.87-21_87-17delinsCTCTG (n.87-21_87-17delinsCTCTG) c.183-21_183-17delinsCTCTG (n.183-21_183-17delinsCTCTG) | |
| 11 | g.13492686_13492689del | CA5893199 | PTH | c.87-21_87-18del (n.87-21_87-18del) c.183-21_183-18del (n.183-21_183-18del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492685G>A | CA5893200 | PTH | c.87-19C>T (n.87-19C>T) c.183-19C>T (n.183-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492685G= | CA1953324529 | PTH | c.87-19C= (n.87-19C=) c.183-19C= (n.183-19C=) | |
| 11 | g.13492686A= | CA1953324532 | PTH | c.87-20T= (n.87-20T=) c.183-20T= (n.183-20T=) | |
| 11 | g.13492686A>G | CA5893201 | PTH | c.87-20T>C (n.87-20T>C) c.183-20T>C (n.183-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492687G>A | CA2612561049 | PTH | c.87-21C>T (n.87-21C>T) c.183-21C>T (n.183-21C>T) | gnomAD v4 |
| 11 | g.13492690G>A | CA2790494666 | PTH | c.87-24C>T (n.87-24C>T) c.183-24C>T (n.183-24C>T) | |
| 11 | g.13492691G>A | CA2612561050 | PTH | c.87-25C>T (n.87-25C>T) c.183-25C>T (n.183-25C>T) | gnomAD v4 |
| 11 | g.13492693C>T | CA2612561051 | PTH | c.87-27G>A (n.87-27G>A) c.183-27G>A (n.183-27G>A) | gnomAD v4 |
| 11 | g.13492695C>A | CA2723285512 | PTH | c.87-29G>T (n.87-29G>T) c.183-29G>T (n.183-29G>T) | dbSNP |
| 11 | g.13492695C>G | CA2612561052 | PTH | c.87-29G>C (n.87-29G>C) c.183-29G>C (n.183-29G>C) | gnomAD v4 |
| 11 | g.13492698C>A | CA935309398 | PTH | c.87-32G>T (n.87-32G>T) c.183-32G>T (n.183-32G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492698C= | CA1953324538 | PTH | c.87-32G= (n.87-32G=) c.183-32G= (n.183-32G=) | |
| 11 | g.13492698C>G | CA217889672 | PTH | c.87-32G>C (n.87-32G>C) c.183-32G>C (n.183-32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492700del | CA2612561054 | PTH | c.87-32del (n.87-32del) c.183-32del (n.183-32del) | gnomAD v4 |
| 11 | g.13492699_13492706dup | CA2612561053 | PTH | c.87-39_87-32dup (n.87-39_87-32dup) c.183-39_183-32dup (n.183-39_183-32dup) | gnomAD v4 |
| 11 | g.13492699C>G | CA2612561055 | PTH | c.87-33G>C (n.87-33G>C) c.183-33G>C (n.183-33G>C) | gnomAD v4 |
| 11 | g.13492699C>T | CA2790494667 | PTH | c.87-33G>A (n.87-33G>A) c.183-33G>A (n.183-33G>A) |