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 |
|---|---|---|---|---|---|
| X | g.23379688T>A | CA412579748 | PTCHD1 | c.449T>A (p.Val150Glu) c.159-12843T>A c.134T>A (p.Val45Glu) | |
| X | g.23379688T>C | CA412579749 | PTCHD1 | c.449T>C (p.Val150Ala) c.159-12843T>C c.134T>C (p.Val45Ala) | |
| X | g.23379688T>G | CA412579747 | PTCHD1 | c.449T>G (p.Val150Gly) c.159-12843T>G c.134T>G (p.Val45Gly) | |
| X | g.23379689G>A | CA515619474 | PTCHD1 | c.450G>A (p.Val150=) c.159-12842G>A c.135G>A (p.Val45=) | gnomAD v4 |
| X | g.23379689G>C | CA515619475 | PTCHD1 | c.450G>C (p.Val150=) c.159-12842G>C c.135G>C (p.Val45=) | |
| X | g.23379689G>T | CA515619476 | PTCHD1 | c.450G>T (p.Val150=) c.159-12842G>T c.135G>T (p.Val45=) | gnomAD v4 |
| X | g.23379690G>A | CA412579751 | PTCHD1 | c.451G>A (p.Asp151Asn) c.159-12841G>A c.136G>A (p.Asp46Asn) | |
| X | g.23379690G>C | CA412579750 | PTCHD1 | c.451G>C (p.Asp151His) c.159-12841G>C c.136G>C (p.Asp46His) | |
| X | g.23379690G>T | CA412579752 | PTCHD1 | c.451G>T (p.Asp151Tyr) c.159-12841G>T c.136G>T (p.Asp46Tyr) | |
| X | g.23379691A>C | CA412579753 | PTCHD1 | c.452A>C (p.Asp151Ala) c.159-12840A>C c.137A>C (p.Asp46Ala) | |
| X | g.23379691A>G | CA412579754 | PTCHD1 | c.452A>G (p.Asp151Gly) c.159-12840A>G c.137A>G (p.Asp46Gly) | |
| X | g.23379691A>T | CA412579755 | PTCHD1 | c.452A>T (p.Asp151Val) c.159-12840A>T c.137A>T (p.Asp46Val) | |
| X | g.23379692T>A | CA412579756 | PTCHD1 | c.453T>A (p.Asp151Glu) c.159-12839T>A c.138T>A (p.Asp46Glu) | |
| X | g.23379692T>C | CA515619481 | PTCHD1 | c.453T>C (p.Asp151=) c.159-12839T>C c.138T>C (p.Asp46=) | |
| X | g.23379692T>G | CA412579757 | PTCHD1 | c.453T>G (p.Asp151Glu) c.159-12839T>G c.138T>G (p.Asp46Glu) | |
| X | g.23379693G>A | CA412579760 | PTCHD1 | c.454G>A (p.Asp152Asn) c.159-12838G>A c.139G>A (p.Asp47Asn) | |
| X | g.23379693G>C | CA412579759 | PTCHD1 | c.454G>C (p.Asp152His) c.159-12838G>C c.139G>C (p.Asp47His) | |
| X | g.23379693G>T | CA412579758 | PTCHD1 | c.454G>T (p.Asp152Tyr) c.159-12838G>T c.139G>T (p.Asp47Tyr) | |
| X | g.23379694A>C | CA412579761 | PTCHD1 | c.455A>C (p.Asp152Ala) c.159-12837A>C c.140A>C (p.Asp47Ala) | |
| X | g.23379694A>G | CA412579762 | PTCHD1 | c.455A>G (p.Asp152Gly) c.159-12837A>G c.140A>G (p.Asp47Gly) | |
| X | g.23379694A>T | CA412579763 | PTCHD1 | c.455A>T (p.Asp152Val) c.159-12837A>T c.140A>T (p.Asp47Val) | |
| X | g.23379695C>A | CA412579764 | PTCHD1 | c.456C>A (p.Asp152Glu) c.159-12836C>A c.141C>A (p.Asp47Glu) | |
| X | g.23379695C= | CA2419636301 | PTCHD1 | c.456C= (p.Asp152=) c.159-12836C= c.141C= (p.Asp47=) | |
| X | g.23379695C>G | CA412579765 | PTCHD1 | c.456C>G (p.Asp152Glu) c.159-12836C>G c.141C>G (p.Asp47Glu) | |
| X | g.23379695C>T | CA10369034 | PTCHD1 | c.456C>T (p.Asp152=) c.159-12836C>T c.141C>T (p.Asp47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379696A>C | CA412579768 | PTCHD1 | c.457A>C (p.Ile153Leu) c.159-12835A>C c.142A>C (p.Ile48Leu) | |
| X | g.23379696A>G | CA412579766 | PTCHD1 | c.457A>G (p.Ile153Val) c.159-12835A>G c.142A>G (p.Ile48Val) | |
| X | g.23379696A>T | CA412579767 | PTCHD1 | c.457A>T (p.Ile153Leu) c.159-12835A>T c.142A>T (p.Ile48Leu) | |
| X | g.23379697T>A | CA412579769 | PTCHD1 | c.458T>A (p.Ile153Lys) c.159-12834T>A c.143T>A (p.Ile48Lys) | |
| X | g.23379697T>C | CA10369035 | PTCHD1 | c.458T>C (p.Ile153Thr) c.159-12834T>C c.143T>C (p.Ile48Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379697T>G | CA412579770 | PTCHD1 | c.458T>G (p.Ile153Arg) c.159-12834T>G c.143T>G (p.Ile48Arg) | |
| X | g.23379697T= | CA2419636302 | PTCHD1 | c.458T= (p.Ile153=) c.159-12834T= c.143T= (p.Ile48=) | |
| X | g.23379698A>C | CA515619490 | PTCHD1 | c.459A>C (p.Ile153=) c.159-12833A>C c.144A>C (p.Ile48=) | |
| X | g.23379698A>G | CA412579771 | PTCHD1 | c.459A>G (p.Ile153Met) c.159-12833A>G c.144A>G (p.Ile48Met) | gnomAD v4 |
| X | g.23379698A>T | CA515619492 | PTCHD1 | c.459A>T (p.Ile153=) c.159-12833A>T c.144A>T (p.Ile48=) | |
| X | g.23379699G>A | CA412579772 | PTCHD1 | c.460G>A (p.Val154Met) c.159-12832G>A c.145G>A (p.Val49Met) | |
| X | g.23379699G>C | CA412579773 | PTCHD1 | c.460G>C (p.Val154Leu) c.159-12832G>C c.145G>C (p.Val49Leu) | |
| X | g.23379699G>T | CA412579774 | PTCHD1 | c.460G>T (p.Val154Leu) c.159-12832G>T c.145G>T (p.Val49Leu) | |
| X | g.23379700T>A | CA412579775 | PTCHD1 | c.461T>A (p.Val154Glu) c.159-12831T>A c.146T>A (p.Val49Glu) | |
| X | g.23379700T>C | CA412579776 | PTCHD1 | c.461T>C (p.Val154Ala) c.159-12831T>C c.146T>C (p.Val49Ala) | |
| X | g.23379700T>G | CA412579777 | PTCHD1 | c.461T>G (p.Val154Gly) c.159-12831T>G c.146T>G (p.Val49Gly) | |
| X | g.23379701G>A | CA515619496 | PTCHD1 | c.462G>A (p.Val154=) c.159-12830G>A c.147G>A (p.Val49=) | |
| X | g.23379701G>C | CA515619497 | PTCHD1 | c.462G>C (p.Val154=) c.159-12830G>C c.147G>C (p.Val49=) | |
| X | g.23379701G>T | CA515619494 | PTCHD1 | c.462G>T (p.Val154=) c.159-12830G>T c.147G>T (p.Val49=) | |
| X | g.23379702C>A | CA412579778 | PTCHD1 | c.463C>A (p.His155Asn) c.159-12829C>A c.148C>A (p.His50Asn) | |
| X | g.23379702C>G | CA412579779 | PTCHD1 | c.463C>G (p.His155Asp) c.159-12829C>G c.148C>G (p.His50Asp) | |
| X | g.23379702C>T | CA412579780 | PTCHD1 | c.463C>T (p.His155Tyr) c.159-12829C>T c.148C>T (p.His50Tyr) | |
| X | g.23379703A>C | CA412579781 | PTCHD1 | c.464A>C (p.His155Pro) c.159-12828A>C c.149A>C (p.His50Pro) | |
| X | g.23379703A>G | CA412579783 | PTCHD1 | c.464A>G (p.His155Arg) c.159-12828A>G c.149A>G (p.His50Arg) | |
| X | g.23379703A>T | CA412579782 | PTCHD1 | c.464A>T (p.His155Leu) c.159-12828A>T c.149A>T (p.His50Leu) | |
| X | g.23379704C>A | CA412579784 | PTCHD1 | c.465C>A (p.His155Gln) c.159-12827C>A c.150C>A (p.His50Gln) | |
| X | g.23379704C= | CA2419636303 | PTCHD1 | c.465C= (p.His155=) c.159-12827C= c.150C= (p.His50=) | |
| X | g.23379704C>G | CA412579785 | PTCHD1 | c.465C>G (p.His155Gln) c.159-12827C>G c.150C>G (p.His50Gln) | |
| X | g.23379704C>T | CA10369036 | PTCHD1 | c.465C>T (p.His155=) c.159-12827C>T c.150C>T (p.His50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379705G>A | CA10369037 | PTCHD1 | c.466G>A (p.Val156Ile) c.159-12826G>A c.151G>A (p.Val51Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.23379705G>C | CA412579786 | PTCHD1 | c.466G>C (p.Val156Leu) c.159-12826G>C c.151G>C (p.Val51Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.23379705G= | CA2419636304 | PTCHD1 | c.466G= (p.Val156=) c.159-12826G= c.151G= (p.Val51=) | |
| X | g.23379705G>T | CA412579787 | PTCHD1 | c.466G>T (p.Val156Phe) c.159-12826G>T c.151G>T (p.Val51Phe) | |
| X | g.23379706T>A | CA412579788 | PTCHD1 | c.467T>A (p.Val156Asp) c.159-12825T>A c.152T>A (p.Val51Asp) | |
| X | g.23379706T>C | CA412579789 | PTCHD1 | c.467T>C (p.Val156Ala) c.159-12825T>C c.152T>C (p.Val51Ala) | COSMIC COSMIC |
| X | g.23379706T>G | CA412579790 | PTCHD1 | c.467T>G (p.Val156Gly) c.159-12825T>G c.152T>G (p.Val51Gly) | |
| X | g.23379707C>A | CA515619507 | PTCHD1 | c.468C>A (p.Val156=) c.159-12824C>A c.153C>A (p.Val51=) | |
| X | g.23379707C>G | CA515619506 | PTCHD1 | c.468C>G (p.Val156=) c.159-12824C>G c.153C>G (p.Val51=) | |
| X | g.23379707C>T | CA515619504 | PTCHD1 | c.468C>T (p.Val156=) c.159-12824C>T c.153C>T (p.Val51=) | gnomAD v4 |
| X | g.23379708C>A | CA412579791 | PTCHD1 | c.469C>A (p.Leu157Met) c.159-12823C>A c.154C>A (p.Leu52Met) | |
| X | g.23379708C= | CA2419636305 | PTCHD1 | c.469C= (p.Leu157=) c.159-12823C= c.154C= (p.Leu52=) | |
| X | g.23379708C>G | CA412579792 | PTCHD1 | c.469C>G (p.Leu157Val) c.159-12823C>G c.154C>G (p.Leu52Val) | |
| X | g.23379708C>T | CA515619508 | PTCHD1 | c.469C>T (p.Leu157=) c.159-12823C>T c.154C>T (p.Leu52=) | dbSNP |
| X | g.23379709T>A | CA412579795 | PTCHD1 | c.470T>A (p.Leu157Gln) c.159-12822T>A c.155T>A (p.Leu52Gln) | |
| X | g.23379709T>C | CA412579794 | PTCHD1 | c.470T>C (p.Leu157Pro) c.159-12822T>C c.155T>C (p.Leu52Pro) | |
| X | g.23379709T>G | CA412579793 | PTCHD1 | c.470T>G (p.Leu157Arg) c.159-12822T>G c.155T>G (p.Leu52Arg) | |
| X | g.23379710G>A | CA10369038 | PTCHD1 | c.471G>A (p.Leu157=) c.159-12821G>A c.156G>A (p.Leu52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379710G>C | CA515619509 | PTCHD1 | c.471G>C (p.Leu157=) c.159-12821G>C c.156G>C (p.Leu52=) | |
| X | g.23379710G= | CA2419636306 | PTCHD1 | c.471G= (p.Leu157=) c.159-12821G= c.156G= (p.Leu52=) | |
| X | g.23379710G>T | CA515619510 | PTCHD1 | c.471G>T (p.Leu157=) c.159-12821G>T c.156G>T (p.Leu52=) | COSMIC COSMIC |
| X | g.23379711G>A | CA412579796 | PTCHD1 | c.472G>A (p.Glu158Lys) c.159-12820G>A c.157G>A (p.Glu53Lys) | gnomAD v4 |
| X | g.23379711G>C | CA412579797 | PTCHD1 | c.472G>C (p.Glu158Gln) c.159-12820G>C c.157G>C (p.Glu53Gln) | |
| X | g.23379711G>T | CA412579798 | PTCHD1 | c.472G>T (p.Glu158Ter) c.159-12820G>T c.157G>T (p.Glu53Ter) | |
| X | g.23379712A>C | CA412579799 | PTCHD1 | c.473A>C (p.Glu158Ala) c.159-12819A>C c.158A>C (p.Glu53Ala) | |
| X | g.23379712A>G | CA412579800 | PTCHD1 | c.473A>G (p.Glu158Gly) c.159-12819A>G c.158A>G (p.Glu53Gly) | |
| X | g.23379712A>T | CA412579801 | PTCHD1 | c.473A>T (p.Glu158Val) c.159-12819A>T c.158A>T (p.Glu53Val) | |
| X | g.23379713A>C | CA412579802 | PTCHD1 | c.474A>C (p.Glu158Asp) c.159-12818A>C c.159A>C (p.Glu53Asp) | |
| X | g.23379713A>G | CA515619515 | PTCHD1 | c.474A>G (p.Glu158=) c.159-12818A>G c.159A>G (p.Glu53=) | gnomAD v4 |
| X | g.23379713A>T | CA412579803 | PTCHD1 | c.474A>T (p.Glu158Asp) c.159-12818A>T c.159A>T (p.Glu53Asp) | |
| X | g.23379714G>A | CA412579804 | PTCHD1 | c.475G>A (p.Glu159Lys) c.159-12817G>A c.160G>A (p.Glu54Lys) | ClinVar |
| X | g.23379714G>C | CA412579805 | PTCHD1 | c.475G>C (p.Glu159Gln) c.159-12817G>C c.160G>C (p.Glu54Gln) | |
| X | g.23379714G>T | CA412579806 | PTCHD1 | c.475G>T (p.Glu159Ter) c.159-12817G>T c.160G>T (p.Glu54Ter) | |
| X | g.23379715A= | CA2419636307 | PTCHD1 | c.476A= (p.Glu159=) c.159-12816A= c.161A= (p.Glu54=) | |
| X | g.23379715A>C | CA412579809 | PTCHD1 | c.476A>C (p.Glu159Ala) c.159-12816A>C c.161A>C (p.Glu54Ala) | |
| X | g.23379715A>G | CA412579808 | PTCHD1 | c.476A>G (p.Glu159Gly) c.159-12816A>G c.161A>G (p.Glu54Gly) | dbSNP gnomAD v2 |
| X | g.23379715A>T | CA412579807 | PTCHD1 | c.476A>T (p.Glu159Val) c.159-12816A>T c.161A>T (p.Glu54Val) | |
| X | g.23379716G>A | CA327633873 | PTCHD1 | c.477G>A (p.Glu159=) c.159-12815G>A c.162G>A (p.Glu54=) | dbSNP gnomAD v4 |
| X | g.23379716G>C | CA412579811 | PTCHD1 | c.477G>C (p.Glu159Asp) c.159-12815G>C c.162G>C (p.Glu54Asp) | |
| X | g.23379716G= | CA2419636308 | PTCHD1 | c.477G= (p.Glu159=) c.159-12815G= c.162G= (p.Glu54=) | |
| X | g.23379716G>T | CA412579810 | PTCHD1 | c.477G>T (p.Glu159Asp) c.159-12815G>T c.162G>T (p.Glu54Asp) | |
| X | g.23379717C>A | CA412579812 | PTCHD1 | c.478C>A (p.Leu160Ile) c.159-12814C>A c.163C>A (p.Leu55Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379717C= | CA2419636309 | PTCHD1 | c.478C= (p.Leu160=) c.159-12814C= c.163C= (p.Leu55=) | |
| X | g.23379717C>G | CA412579813 | PTCHD1 | c.478C>G (p.Leu160Val) c.159-12814C>G c.163C>G (p.Leu55Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23379717C>T | CA515619521 | PTCHD1 | c.478C>T (p.Leu160=) c.159-12814C>T c.163C>T (p.Leu55=) | COSMIC COSMIC |
| X | g.23379718T>A | CA412579814 | PTCHD1 | c.479T>A (p.Leu160Gln) c.159-12813T>A c.164T>A (p.Leu55Gln) | |
| X | g.23379718T>C | CA412579815 | PTCHD1 | c.479T>C (p.Leu160Pro) c.159-12813T>C c.164T>C (p.Leu55Pro) | |
| X | g.23379718T>G | CA412579816 | PTCHD1 | c.479T>G (p.Leu160Arg) c.159-12813T>G c.164T>G (p.Leu55Arg) | |
| X | g.23379719A>C | CA515619522 | PTCHD1 | c.480A>C (p.Leu160=) c.159-12812A>C c.165A>C (p.Leu55=) | |
| X | g.23379719A>G | CA515619523 | PTCHD1 | c.480A>G (p.Leu160=) c.159-12812A>G c.165A>G (p.Leu55=) | |
| X | g.23379719A>T | CA515619524 | PTCHD1 | c.480A>T (p.Leu160=) c.159-12812A>T c.165A>T (p.Leu55=) | |
| X | g.23379720A>C | CA412579817 | PTCHD1 | c.481A>C (p.Lys161Gln) c.159-12811A>C c.166A>C (p.Lys56Gln) | |
| X | g.23379720A>G | CA412579818 | PTCHD1 | c.481A>G (p.Lys161Glu) c.159-12811A>G c.166A>G (p.Lys56Glu) | |
| X | g.23379720A>T | CA412579819 | PTCHD1 | c.481A>T (p.Lys161Ter) c.159-12811A>T c.166A>T (p.Lys56Ter) | |
| X | g.23379721A>C | CA412579820 | PTCHD1 | c.482A>C (p.Lys161Thr) c.159-12810A>C c.167A>C (p.Lys56Thr) | |
| X | g.23379721A>G | CA412579821 | PTCHD1 | c.482A>G (p.Lys161Arg) c.159-12810A>G c.167A>G (p.Lys56Arg) | |
| X | g.23379721A>T | CA412579822 | PTCHD1 | c.482A>T (p.Lys161Met) c.159-12810A>T c.167A>T (p.Lys56Met) | |
| X | g.23379722G>A | CA515619531 | PTCHD1 | c.483G>A (p.Lys161=) c.159-12809G>A c.168G>A (p.Lys56=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379722G>C | CA412579823 | PTCHD1 | c.483G>C (p.Lys161Asn) c.159-12809G>C c.168G>C (p.Lys56Asn) | |
| X | g.23379722G= | CA2419636310 | PTCHD1 | c.483G= (p.Lys161=) c.159-12809G= c.168G= (p.Lys56=) | |
| X | g.23379722G>T | CA412579824 | PTCHD1 | c.483G>T (p.Lys161Asn) c.159-12809G>T c.168G>T (p.Lys56Asn) | |
| X | g.23379723A>C | CA412579825 | PTCHD1 | c.484A>C (p.Asn162His) c.159-12808A>C c.169A>C (p.Asn57His) | |
| X | g.23379723A>G | CA412579827 | PTCHD1 | c.484A>G (p.Asn162Asp) c.159-12808A>G c.169A>G (p.Asn57Asp) | |
| X | g.23379723A>T | CA412579826 | PTCHD1 | c.484A>T (p.Asn162Tyr) c.159-12808A>T c.169A>T (p.Asn57Tyr) | |
| X | g.23379724A>C | CA412579828 | PTCHD1 | c.485A>C (p.Asn162Thr) c.159-12807A>C c.170A>C (p.Asn57Thr) | |
| X | g.23379724A>G | CA412579829 | PTCHD1 | c.485A>G (p.Asn162Ser) c.159-12807A>G c.170A>G (p.Asn57Ser) | gnomAD v4 |
| X | g.23379724A>T | CA412579830 | PTCHD1 | c.485A>T (p.Asn162Ile) c.159-12807A>T c.170A>T (p.Asn57Ile) | |
| X | g.23379725T>A | CA412579831 | PTCHD1 | c.486T>A (p.Asn162Lys) c.159-12806T>A c.171T>A (p.Asn57Lys) | |
| X | g.23379725T>C | CA515619537 | PTCHD1 | c.486T>C (p.Asn162=) c.159-12806T>C c.171T>C (p.Asn57=) | |
| X | g.23379725T>G | CA412579832 | PTCHD1 | c.486T>G (p.Asn162Lys) c.159-12806T>G c.171T>G (p.Asn57Lys) | |
| X | g.23379726G>A | CA412579833 | PTCHD1 | c.487G>A (p.Ala163Thr) c.159-12805G>A c.172G>A (p.Ala58Thr) | |
| X | g.23379726G>C | CA412579834 | PTCHD1 | c.487G>C (p.Ala163Pro) c.159-12805G>C c.172G>C (p.Ala58Pro) | |
| X | g.23379726G= | CA2419636311 | PTCHD1 | c.487G= (p.Ala163=) c.159-12805G= c.172G= (p.Ala58=) | |
| X | g.23379726G>T | CA327633874 | PTCHD1 | c.487G>T (p.Ala163Ser) c.159-12805G>T c.172G>T (p.Ala58Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23379727C>A | CA412579835 | PTCHD1 | c.488C>A (p.Ala163Asp) c.159-12804C>A c.173C>A (p.Ala58Asp) | |
| X | g.23379727C>G | CA412579836 | PTCHD1 | c.488C>G (p.Ala163Gly) c.159-12804C>G c.173C>G (p.Ala58Gly) | |
| X | g.23379727C>T | CA412579837 | PTCHD1 | c.488C>T (p.Ala163Val) c.159-12804C>T c.173C>T (p.Ala58Val) | |
| X | g.23379728T>A | CA515619542 | PTCHD1 | c.489T>A (p.Ala163=) c.159-12803T>A c.174T>A (p.Ala58=) | |
| X | g.23379728T>C | CA515619543 | PTCHD1 | c.489T>C (p.Ala163=) c.159-12803T>C c.174T>C (p.Ala58=) | |
| X | g.23379728T>G | CA515619544 | PTCHD1 | c.489T>G (p.Ala163=) c.159-12803T>G c.174T>G (p.Ala58=) | |
| X | g.23379729C>A | CA515619545 | PTCHD1 | c.490C>A (p.Arg164=) c.159-12802C>A c.175C>A (p.Arg59=) | |
| X | g.23379729C= | CA2419636312 | PTCHD1 | c.490C= (p.Arg164=) c.159-12802C= c.175C= (p.Arg59=) | |
| X | g.23379729C>G | CA412579838 | PTCHD1 | c.490C>G (p.Arg164Gly) c.159-12802C>G c.175C>G (p.Arg59Gly) | dbSNP |
| X | g.23379729C>T | CA412579839 | PTCHD1 | c.490C>T (p.Arg164Trp) c.159-12802C>T c.175C>T (p.Arg59Trp) | gnomAD v4 |
| X | g.23379730G>A | CA327633875 | PTCHD1 | c.491G>A (p.Arg164Gln) c.159-12801G>A c.176G>A (p.Arg59Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23379730G>C | CA412579840 | PTCHD1 | c.491G>C (p.Arg164Pro) c.159-12801G>C c.176G>C (p.Arg59Pro) | |
| X | g.23379730G= | CA2419636313 | PTCHD1 | c.491G= (p.Arg164=) c.159-12801G= c.176G= (p.Arg59=) | |
| X | g.23379730G>T | CA412579841 | PTCHD1 | c.491G>T (p.Arg164Leu) c.159-12801G>T c.176G>T (p.Arg59Leu) | |
| X | g.23379731G>A | CA515619547 | PTCHD1 | c.492G>A (p.Arg164=) c.159-12800G>A c.177G>A (p.Arg59=) | gnomAD v4 |
| X | g.23379731G>C | CA515619548 | PTCHD1 | c.492G>C (p.Arg164=) c.159-12800G>C c.177G>C (p.Arg59=) | |
| X | g.23379731G>T | CA515619550 | PTCHD1 | c.492G>T (p.Arg164=) c.159-12800G>T c.177G>T (p.Arg59=) | |
| X | g.23379732G>A | CA412579842 | PTCHD1 | c.493G>A (p.Ala165Thr) c.159-12799G>A c.178G>A (p.Ala60Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23379732G>C | CA412579843 | PTCHD1 | c.493G>C (p.Ala165Pro) c.159-12799G>C c.178G>C (p.Ala60Pro) | |
| X | g.23379732G= | CA2419636314 | PTCHD1 | c.493G= (p.Ala165=) c.159-12799G= c.178G= (p.Ala60=) | |
| X | g.23379732G>T | CA412579844 | PTCHD1 | c.493G>T (p.Ala165Ser) c.159-12799G>T c.178G>T (p.Ala60Ser) | |
| X | g.23379733C>A | CA10369039 | PTCHD1 | c.494C>A (p.Ala165Asp) c.159-12798C>A c.179C>A (p.Ala60Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379733C= | CA2419636315 | PTCHD1 | c.494C= (p.Ala165=) c.159-12798C= c.179C= (p.Ala60=) | |
| X | g.23379733C>G | CA412579845 | PTCHD1 | c.494C>G (p.Ala165Gly) c.159-12798C>G c.179C>G (p.Ala60Gly) | |
| X | g.23379733C>T | CA10369040 | PTCHD1 | c.494C>T (p.Ala165Val) c.159-12798C>T c.179C>T (p.Ala60Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379734C>A | CA515619553 | PTCHD1 | c.495C>A (p.Ala165=) c.159-12797C>A c.180C>A (p.Ala60=) | |
| X | g.23379734C>G | CA515619552 | PTCHD1 | c.495C>G (p.Ala165=) c.159-12797C>G c.180C>G (p.Ala60=) | |
| X | g.23379734C>T | CA515619551 | PTCHD1 | c.495C>T (p.Ala165=) c.159-12797C>T c.180C>T (p.Ala60=) | gnomAD v4 |
| X | g.23379735A>C | CA412579846 | PTCHD1 | c.496A>C (p.Thr166Pro) c.159-12796A>C c.181A>C (p.Thr61Pro) | |
| X | g.23379735A>G | CA412579847 | PTCHD1 | c.496A>G (p.Thr166Ala) c.159-12796A>G c.181A>G (p.Thr61Ala) | |
| X | g.23379735A>T | CA412579848 | PTCHD1 | c.496A>T (p.Thr166Ser) c.159-12796A>T c.181A>T (p.Thr61Ser) | |
| X | g.23379736C>A | CA412579850 | PTCHD1 | c.497C>A (p.Thr166Asn) c.159-12795C>A c.182C>A (p.Thr61Asn) | |
| X | g.23379736C>G | CA412579851 | PTCHD1 | c.497C>G (p.Thr166Ser) c.159-12795C>G c.182C>G (p.Thr61Ser) | |
| X | g.23379736C>T | CA412579849 | PTCHD1 | c.497C>T (p.Thr166Ile) c.159-12795C>T c.182C>T (p.Thr61Ile) | |
| X | g.23379737C>A | CA515619560 | PTCHD1 | c.498C>A (p.Thr166=) c.159-12794C>A c.183C>A (p.Thr61=) | |
| X | g.23379737C= | CA2419636316 | PTCHD1 | c.498C= (p.Thr166=) c.159-12794C= c.183C= (p.Thr61=) | |
| X | g.23379737C>G | CA515619559 | PTCHD1 | c.498C>G (p.Thr166=) c.159-12794C>G c.183C>G (p.Thr61=) | dbSNP |
| X | g.23379737C>T | CA515619558 | PTCHD1 | c.498C>T (p.Thr166=) c.159-12794C>T c.183C>T (p.Thr61=) | gnomAD v4 |
| X | g.23379738A= | CA2419636317 | PTCHD1 | c.499A= (p.Asn167=) c.159-12793A= c.184A= (p.Asn62=) | |
| X | g.23379738A>C | CA412579852 | PTCHD1 | c.499A>C (p.Asn167His) c.159-12793A>C c.184A>C (p.Asn62His) | |
| X | g.23379738A>G | CA412579853 | PTCHD1 | c.499A>G (p.Asn167Asp) c.159-12793A>G c.184A>G (p.Asn62Asp) | dbSNP |
| X | g.23379738A>T | CA412579854 | PTCHD1 | c.499A>T (p.Asn167Tyr) c.159-12793A>T c.184A>T (p.Asn62Tyr) | |
| X | g.23379739A>C | CA412579855 | PTCHD1 | c.500A>C (p.Asn167Thr) c.159-12792A>C c.185A>C (p.Asn62Thr) | |
| X | g.23379739A>G | CA412579856 | PTCHD1 | c.500A>G (p.Asn167Ser) c.159-12792A>G c.185A>G (p.Asn62Ser) | gnomAD v4 |
| X | g.23379739A>T | CA412579857 | PTCHD1 | c.500A>T (p.Asn167Ile) c.159-12792A>T c.185A>T (p.Asn62Ile) | |
| X | g.23379740T>A | CA412579858 | PTCHD1 | c.501T>A (p.Asn167Lys) c.159-12791T>A c.186T>A (p.Asn62Lys) | |
| X | g.23379740T>C | CA515619561 | PTCHD1 | c.501T>C (p.Asn167=) c.159-12791T>C c.186T>C (p.Asn62=) | |
| X | g.23379740T>G | CA412579859 | PTCHD1 | c.501T>G (p.Asn167Lys) c.159-12791T>G c.186T>G (p.Asn62Lys) | dbSNP |
| X | g.23379740T= | CA2419636318 | PTCHD1 | c.501T= (p.Asn167=) c.159-12791T= c.186T= (p.Asn62=) | |
| X | g.23379741C>A | CA515619563 | PTCHD1 | c.502C>A (p.Arg168=) c.159-12790C>A c.187C>A (p.Arg63=) | COSMIC |
| X | g.23379741C= | CA2419636319 | PTCHD1 | c.502C= (p.Arg168=) c.159-12790C= c.187C= (p.Arg63=) | |
| X | g.23379741C>G | CA412579860 | PTCHD1 | c.502C>G (p.Arg168Gly) c.159-12790C>G c.187C>G (p.Arg63Gly) | |
| X | g.23379741C>T | CA10369041 | PTCHD1 | c.502C>T (p.Arg168Trp) c.159-12790C>T c.187C>T (p.Arg63Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379742G>A | CA10369042 | PTCHD1 | c.503G>A (p.Arg168Gln) c.159-12789G>A c.188G>A (p.Arg63Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379742G>C | CA412579861 | PTCHD1 | c.503G>C (p.Arg168Pro) c.159-12789G>C c.188G>C (p.Arg63Pro) | |
| X | g.23379742G= | CA2419636320 | PTCHD1 | c.503G= (p.Arg168=) c.159-12789G= c.188G= (p.Arg63=) | |
| X | g.23379742G>T | CA412579862 | PTCHD1 | c.503G>T (p.Arg168Leu) c.159-12789G>T c.188G>T (p.Arg63Leu) | |
| X | g.23379743G>A | CA515619567 | PTCHD1 | c.504G>A (p.Arg168=) c.159-12788G>A c.189G>A (p.Arg63=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379743G>C | CA515619568 | PTCHD1 | c.504G>C (p.Arg168=) c.159-12788G>C c.189G>C (p.Arg63=) | |
| X | g.23379743G= | CA2419636321 | PTCHD1 | c.504G= (p.Arg168=) c.159-12788G= c.189G= (p.Arg63=) | |
| X | g.23379743G>T | CA515619569 | PTCHD1 | c.504G>T (p.Arg168=) c.159-12788G>T c.189G>T (p.Arg63=) | |
| X | g.23379744A>C | CA412579865 | PTCHD1 | c.505A>C (p.Thr169Pro) c.159-12787A>C c.190A>C (p.Thr64Pro) | |
| X | g.23379744A>G | CA412579864 | PTCHD1 | c.505A>G (p.Thr169Ala) c.159-12787A>G c.190A>G (p.Thr64Ala) | COSMIC COSMIC |
| X | g.23379744A>T | CA412579863 | PTCHD1 | c.505A>T (p.Thr169Ser) c.159-12787A>T c.190A>T (p.Thr64Ser) | |
| X | g.23379745C>A | CA412579866 | PTCHD1 | c.506C>A (p.Thr169Asn) c.159-12786C>A c.191C>A (p.Thr64Asn) | |
| X | g.23379745C>G | CA412579868 | PTCHD1 | c.506C>G (p.Thr169Ser) c.159-12786C>G c.191C>G (p.Thr64Ser) | |
| X | g.23379745C>T | CA412579867 | PTCHD1 | c.506C>T (p.Thr169Ile) c.159-12786C>T c.191C>T (p.Thr64Ile) | gnomAD v4 |
| X | g.23379746C>A | CA515619574 | PTCHD1 | c.507C>A (p.Thr169=) c.159-12785C>A c.192C>A (p.Thr64=) | |
| X | g.23379746C>G | CA515619575 | PTCHD1 | c.507C>G (p.Thr169=) c.159-12785C>G c.192C>G (p.Thr64=) | gnomAD v4 |
| X | g.23379746C>T | CA515619576 | PTCHD1 | c.507C>T (p.Thr169=) c.159-12785C>T c.192C>T (p.Thr64=) | |
| X | g.23379747A= | CA2419636322 | PTCHD1 | c.508A= (p.Asn170=) c.159-12784A= c.193A= (p.Asn65=) | |
| X | g.23379747A>C | CA327633876 | PTCHD1 | c.508A>C (p.Asn170His) c.159-12784A>C c.193A>C (p.Asn65His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379747A>G | CA412579869 | PTCHD1 | c.508A>G (p.Asn170Asp) c.159-12784A>G c.193A>G (p.Asn65Asp) | gnomAD v4 |
| X | g.23379747A>T | CA412579870 | PTCHD1 | c.508A>T (p.Asn170Tyr) c.159-12784A>T c.193A>T (p.Asn65Tyr) | |
| X | g.23379748A>C | CA412579871 | PTCHD1 | c.509A>C (p.Asn170Thr) c.159-12783A>C c.194A>C (p.Asn65Thr) | |
| X | g.23379748A>G | CA412579872 | PTCHD1 | c.509A>G (p.Asn170Ser) c.159-12783A>G c.194A>G (p.Asn65Ser) | COSMIC COSMIC |
| X | g.23379748A>T | CA412579873 | PTCHD1 | c.509A>T (p.Asn170Ile) c.159-12783A>T c.194A>T (p.Asn65Ile) | |
| X | g.23379749T>A | CA412579874 | PTCHD1 | c.510T>A (p.Asn170Lys) c.159-12782T>A c.195T>A (p.Asn65Lys) | |
| X | g.23379749T>C | CA515619577 | PTCHD1 | c.510T>C (p.Asn170=) c.159-12782T>C c.195T>C (p.Asn65=) | |
| X | g.23379749T>G | CA412579875 | PTCHD1 | c.510T>G (p.Asn170Lys) c.159-12782T>G c.195T>G (p.Asn65Lys) | |
| X | g.23379750T>A | CA412579876 | PTCHD1 | c.511T>A (p.Phe171Ile) c.159-12781T>A c.196T>A (p.Phe66Ile) | |
| X | g.23379750T>C | CA412579877 | PTCHD1 | c.511T>C (p.Phe171Leu) c.159-12781T>C c.196T>C (p.Phe66Leu) | |
| X | g.23379750T>G | CA412579878 | PTCHD1 | c.511T>G (p.Phe171Val) c.159-12781T>G c.196T>G (p.Phe66Val) | |
| X | g.23379751T>A | CA412579879 | PTCHD1 | c.512T>A (p.Phe171Tyr) c.159-12780T>A c.197T>A (p.Phe66Tyr) | |
| X | g.23379751T>C | CA412579880 | PTCHD1 | c.512T>C (p.Phe171Ser) c.159-12780T>C c.197T>C (p.Phe66Ser) | |
| X | g.23379751T>G | CA412579881 | PTCHD1 | c.512T>G (p.Phe171Cys) c.159-12780T>G c.197T>G (p.Phe66Cys) | |
| X | g.23379752T>A | CA412579882 | PTCHD1 | c.513T>A (p.Phe171Leu) c.159-12779T>A c.198T>A (p.Phe66Leu) | |
| X | g.23379752T>C | CA515619583 | PTCHD1 | c.513T>C (p.Phe171=) c.159-12779T>C c.198T>C (p.Phe66=) | |
| X | g.23379752T>G | CA412579883 | PTCHD1 | c.513T>G (p.Phe171Leu) c.159-12779T>G c.198T>G (p.Phe66Leu) | |
| X | g.23379753G>A | CA412579884 | PTCHD1 | c.514G>A (p.Ala172Thr) c.159-12778G>A c.199G>A (p.Ala67Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379753G>C | CA412579885 | PTCHD1 | c.514G>C (p.Ala172Pro) c.159-12778G>C c.199G>C (p.Ala67Pro) | |
| X | g.23379753G= | CA2419636323 | PTCHD1 | c.514G= (p.Ala172=) c.159-12778G= c.199G= (p.Ala67=) | |
| X | g.23379753G>T | CA412579886 | PTCHD1 | c.514G>T (p.Ala172Ser) c.159-12778G>T c.199G>T (p.Ala67Ser) | |
| X | g.23379754C>A | CA412579887 | PTCHD1 | c.515C>A (p.Ala172Asp) c.159-12777C>A c.200C>A (p.Ala67Asp) | |
| X | g.23379754C>G | CA412579888 | PTCHD1 | c.515C>G (p.Ala172Gly) c.159-12777C>G c.200C>G (p.Ala67Gly) | |
| X | g.23379754C>T | CA412579889 | PTCHD1 | c.515C>T (p.Ala172Val) c.159-12777C>T c.200C>T (p.Ala67Val) | |
| X | g.23379755T>A | CA515619585 | PTCHD1 | c.516T>A (p.Ala172=) c.159-12776T>A c.201T>A (p.Ala67=) | |
| X | g.23379755T>C | CA515619586 | PTCHD1 | c.516T>C (p.Ala172=) c.159-12776T>C c.201T>C (p.Ala67=) | |
| X | g.23379755T>G | CA515619587 | PTCHD1 | c.516T>G (p.Ala172=) c.159-12776T>G c.201T>G (p.Ala67=) | |
| X | g.23379756A= | CA2419636324 | PTCHD1 | c.517A= (p.Ile173=) c.159-12775A= c.202A= (p.Ile68=) | |
| X | g.23379756A>C | CA412579890 | PTCHD1 | c.517A>C (p.Ile173Leu) c.159-12775A>C c.202A>C (p.Ile68Leu) | |
| X | g.23379756A>G | CA206262 | PTCHD1 | c.517A>G (p.Ile173Val) c.159-12775A>G c.202A>G (p.Ile68Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379756A>T | CA412579891 | PTCHD1 | c.517A>T (p.Ile173Phe) c.159-12775A>T c.202A>T (p.Ile68Phe) | |
| X | g.23379757T>A | CA412579892 | PTCHD1 | c.518T>A (p.Ile173Asn) c.159-12774T>A c.203T>A (p.Ile68Asn) | |
| X | g.23379757T>C | CA412579893 | PTCHD1 | c.518T>C (p.Ile173Thr) c.159-12774T>C c.203T>C (p.Ile68Thr) | gnomAD v4 COSMIC COSMIC |
| X | g.23379757T>G | CA412579894 | PTCHD1 | c.518T>G (p.Ile173Ser) c.159-12774T>G c.203T>G (p.Ile68Ser) | |
| X | g.23379758C>A | CA515619589 | PTCHD1 | c.519C>A (p.Ile173=) c.159-12773C>A c.204C>A (p.Ile68=) | |
| X | g.23379758C>G | CA412579895 | PTCHD1 | c.519C>G (p.Ile173Met) c.159-12773C>G c.204C>G (p.Ile68Met) | |
| X | g.23379758C>T | CA515619590 | PTCHD1 | c.519C>T (p.Ile173=) c.159-12773C>T c.204C>T (p.Ile68=) | |
| X | g.23379759A>C | CA412579898 | PTCHD1 | c.520A>C (p.Thr174Pro) c.159-12772A>C c.205A>C (p.Thr69Pro) | |
| X | g.23379759A>G | CA412579896 | PTCHD1 | c.520A>G (p.Thr174Ala) c.159-12772A>G c.205A>G (p.Thr69Ala) | |
| X | g.23379759A>T | CA412579897 | PTCHD1 | c.520A>T (p.Thr174Ser) c.159-12772A>T c.205A>T (p.Thr69Ser) | |
| X | g.23379760C>A | CA412579899 | PTCHD1 | c.521C>A (p.Thr174Lys) c.159-12771C>A c.206C>A (p.Thr69Lys) | |
| X | g.23379760C>G | CA412579900 | PTCHD1 | c.521C>G (p.Thr174Arg) c.159-12771C>G c.206C>G (p.Thr69Arg) | |
| X | g.23379760C>T | CA412579901 | PTCHD1 | c.521C>T (p.Thr174Ile) c.159-12771C>T c.206C>T (p.Thr69Ile) | |
| X | g.23379761A>C | CA515619597 | PTCHD1 | c.522A>C (p.Thr174=) c.159-12770A>C c.207A>C (p.Thr69=) | |
| X | g.23379761A>G | CA515619596 | PTCHD1 | c.522A>G (p.Thr174=) c.159-12770A>G c.207A>G (p.Thr69=) | gnomAD v4 |
| X | g.23379761A>T | CA515619595 | PTCHD1 | c.522A>T (p.Thr174=) c.159-12770A>T c.207A>T (p.Thr69=) | gnomAD v4 |
| X | g.23379762T>A | CA412579902 | PTCHD1 | c.523T>A (p.Tyr175Asn) c.159-12769T>A c.208T>A (p.Tyr70Asn) | |
| X | g.23379762T>C | CA412579903 | PTCHD1 | c.523T>C (p.Tyr175His) c.159-12769T>C c.208T>C (p.Tyr70His) | |
| X | g.23379762T>G | CA412579904 | PTCHD1 | c.523T>G (p.Tyr175Asp) c.159-12769T>G c.208T>G (p.Tyr70Asp) | |
| X | g.23379763A>C | CA412579905 | PTCHD1 | c.524A>C (p.Tyr175Ser) c.159-12768A>C c.209A>C (p.Tyr70Ser) | |
| X | g.23379763A>G | CA412579906 | PTCHD1 | c.524A>G (p.Tyr175Cys) c.159-12768A>G c.209A>G (p.Tyr70Cys) | |
| X | g.23379763A>T | CA412579907 | PTCHD1 | c.524A>T (p.Tyr175Phe) c.159-12768A>T c.209A>T (p.Tyr70Phe) | |
| X | g.23379764C>A | CA412579908 | PTCHD1 | c.525C>A (p.Tyr175Ter) c.159-12767C>A c.210C>A (p.Tyr70Ter) | |
| X | g.23379764C>G | CA412579909 | PTCHD1 | c.525C>G (p.Tyr175Ter) c.159-12767C>G c.210C>G (p.Tyr70Ter) | |
| X | g.23379764C>T | CA515619603 | PTCHD1 | c.525C>T (p.Tyr175=) c.159-12767C>T c.210C>T (p.Tyr70=) | |
| X | g.23379765C>A | CA412579911 | PTCHD1 | c.526C>A (p.Pro176Thr) c.159-12766C>A c.211C>A (p.Pro71Thr) | |
| X | g.23379765C>G | CA412579912 | PTCHD1 | c.526C>G (p.Pro176Ala) c.159-12766C>G c.211C>G (p.Pro71Ala) | |
| X | g.23379765C>T | CA412579910 | PTCHD1 | c.526C>T (p.Pro176Ser) c.159-12766C>T c.211C>T (p.Pro71Ser) | |
| X | g.23379766C>A | CA412579913 | PTCHD1 | c.527C>A (p.Pro176Gln) c.159-12765C>A c.212C>A (p.Pro71Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23379766C= | CA2419636325 | PTCHD1 | c.527C= (p.Pro176=) c.159-12765C= c.212C= (p.Pro71=) | |
| X | g.23379766C>G | CA412579914 | PTCHD1 | c.527C>G (p.Pro176Arg) c.159-12765C>G c.212C>G (p.Pro71Arg) | |
| X | g.23379766C>T | CA412579915 | PTCHD1 | c.527C>T (p.Pro176Leu) c.159-12765C>T c.212C>T (p.Pro71Leu) | |
| X | g.23379767A>C | CA515619604 | PTCHD1 | c.528A>C (p.Pro176=) c.159-12764A>C c.213A>C (p.Pro71=) | |
| X | g.23379767A>G | CA515619606 | PTCHD1 | c.528A>G (p.Pro176=) c.159-12764A>G c.213A>G (p.Pro71=) | |
| X | g.23379767A>T | CA515619605 | PTCHD1 | c.528A>T (p.Pro176=) c.159-12764A>T c.213A>T (p.Pro71=) | |
| X | g.23379768A= | CA2419636326 | PTCHD1 | c.529A= (p.Ile177=) c.159-12763A= c.214A= (p.Ile72=) | |
| X | g.23379768A>C | CA412579916 | PTCHD1 | c.529A>C (p.Ile177Leu) c.159-12763A>C c.214A>C (p.Ile72Leu) | gnomAD v4 |
| X | g.23379768A>G | CA412579917 | PTCHD1 | c.529A>G (p.Ile177Val) c.159-12763A>G c.214A>G (p.Ile72Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379768A>T | CA412579918 | PTCHD1 | c.529A>T (p.Ile177Phe) c.159-12763A>T c.214A>T (p.Ile72Phe) | |
| X | g.23379769T>A | CA412579919 | PTCHD1 | c.530T>A (p.Ile177Asn) c.159-12762T>A c.215T>A (p.Ile72Asn) | |
| X | g.23379769T>C | CA412579921 | PTCHD1 | c.530T>C (p.Ile177Thr) c.159-12762T>C c.215T>C (p.Ile72Thr) | |
| X | g.23379769T>G | CA412579920 | PTCHD1 | c.530T>G (p.Ile177Ser) c.159-12762T>G c.215T>G (p.Ile72Ser) | |
| X | g.23379770C>A | CA515619609 | PTCHD1 | c.531C>A (p.Ile177=) c.159-12761C>A c.216C>A (p.Ile72=) | dbSNP |
| X | g.23379770C= | CA2419636327 | PTCHD1 | c.531C= (p.Ile177=) c.159-12761C= c.216C= (p.Ile72=) | |
| X | g.23379770C>G | CA412579922 | PTCHD1 | c.531C>G (p.Ile177Met) c.159-12761C>G c.216C>G (p.Ile72Met) | |
| X | g.23379770C>T | CA515619610 | PTCHD1 | c.531C>T (p.Ile177=) c.159-12761C>T c.216C>T (p.Ile72=) | |
| X | g.23379771A>C | CA412579923 | PTCHD1 | c.532A>C (p.Thr178Pro) c.159-12760A>C c.217A>C (p.Thr73Pro) | |
| X | g.23379771A>G | CA412579924 | PTCHD1 | c.532A>G (p.Thr178Ala) c.159-12760A>G c.217A>G (p.Thr73Ala) | |
| X | g.23379771A>T | CA412579925 | PTCHD1 | c.532A>T (p.Thr178Ser) c.159-12760A>T c.217A>T (p.Thr73Ser) | |
| X | g.23379772C>A | CA327633877 | PTCHD1 | c.533C>A (p.Thr178Asn) c.159-12759C>A c.218C>A (p.Thr73Asn) | dbSNP |
| X | g.23379772C= | CA2419636328 | PTCHD1 | c.533C= (p.Thr178=) c.159-12759C= c.218C= (p.Thr73=) | |
| X | g.23379772C>G | CA412579927 | PTCHD1 | c.533C>G (p.Thr178Ser) c.159-12759C>G c.218C>G (p.Thr73Ser) | |
| X | g.23379772C>T | CA412579926 | PTCHD1 | c.533C>T (p.Thr178Ile) c.159-12759C>T c.218C>T (p.Thr73Ile) | |
| X | g.23379773T>A | CA515619612 | PTCHD1 | c.534T>A (p.Thr178=) c.159-12758T>A c.219T>A (p.Thr73=) | |
| X | g.23379773T>C | CA515619614 | PTCHD1 | c.534T>C (p.Thr178=) c.159-12758T>C c.219T>C (p.Thr73=) | |
| X | g.23379773T>G | CA515619613 | PTCHD1 | c.534T>G (p.Thr178=) c.159-12758T>G c.219T>G (p.Thr73=) | |
| X | g.23379774C>A | CA412579928 | PTCHD1 | c.535C>A (p.His179Asn) c.159-12757C>A c.220C>A (p.His74Asn) | |
| X | g.23379774C>G | CA412579930 | PTCHD1 | c.535C>G (p.His179Asp) c.159-12757C>G c.220C>G (p.His74Asp) | |
| X | g.23379774C>T | CA412579929 | PTCHD1 | c.535C>T (p.His179Tyr) c.159-12757C>T c.220C>T (p.His74Tyr) | |
| X | g.23379775A>C | CA412579931 | PTCHD1 | c.536A>C (p.His179Pro) c.159-12756A>C c.221A>C (p.His74Pro) | |
| X | g.23379775A>G | CA412579932 | PTCHD1 | c.536A>G (p.His179Arg) c.159-12756A>G c.221A>G (p.His74Arg) | |
| X | g.23379775A>T | CA412579933 | PTCHD1 | c.536A>T (p.His179Leu) c.159-12756A>T c.221A>T (p.His74Leu) | |
| X | g.23379776C>A | CA412579934 | PTCHD1 | c.537C>A (p.His179Gln) c.159-12755C>A c.222C>A (p.His74Gln) | |
| X | g.23379776C>G | CA412579935 | PTCHD1 | c.537C>G (p.His179Gln) c.159-12755C>G c.222C>G (p.His74Gln) | |
| X | g.23379776C>T | CA515619616 | PTCHD1 | c.537C>T (p.His179=) c.159-12755C>T c.222C>T (p.His74=) | |
| X | g.23379777T>A | CA412579936 | PTCHD1 | c.538T>A (p.Leu180Ile) c.159-12754T>A c.223T>A (p.Leu75Ile) | |
| X | g.23379777T>C | CA515619621 | PTCHD1 | c.538T>C (p.Leu180=) c.159-12754T>C c.223T>C (p.Leu75=) | gnomAD v4 |
| X | g.23379777T>G | CA10369043 | PTCHD1 | c.538T>G (p.Leu180Val) c.159-12754T>G c.223T>G (p.Leu75Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379777T= | CA2419636329 | PTCHD1 | c.538T= (p.Leu180=) c.159-12754T= c.223T= (p.Leu75=) | |
| X | g.23379778del | CA2564574876 | PTCHD1 | c.539del (p.Leu180Ter) c.159-12753del c.224del (p.Leu75Ter) | |
| X | g.23379777_23379784del | CA2550582894 | PTCHD1 | c.538_545del (p.Leu180ArgfsTer?) c.159-12754_159-12747del c.223_230del (p.Leu75ArgfsTer?) | |
| X | g.23379778T>A | CA412579937 | PTCHD1 | c.539T>A (p.Leu180Ter) c.159-12753T>A c.224T>A (p.Leu75Ter) | |
| X | g.23379778T>C | CA412579938 | PTCHD1 | c.539T>C (p.Leu180Ser) c.159-12753T>C c.224T>C (p.Leu75Ser) | |
| X | g.23379778T>G | CA412579939 | PTCHD1 | c.539T>G (p.Leu180Ter) c.159-12753T>G c.224T>G (p.Leu75Ter) | |
| X | g.23379779A>C | CA412579940 | PTCHD1 | c.540A>C (p.Leu180Phe) c.159-12752A>C c.225A>C (p.Leu75Phe) | |
| X | g.23379779A>G | CA515619622 | PTCHD1 | c.540A>G (p.Leu180=) c.159-12752A>G c.225A>G (p.Leu75=) | gnomAD v4 |
| X | g.23379779A>T | CA412579941 | PTCHD1 | c.540A>T (p.Leu180Phe) c.159-12752A>T c.225A>T (p.Leu75Phe) | |
| X | g.23379780A>C | CA412579944 | PTCHD1 | c.541A>C (p.Lys181Gln) c.159-12751A>C c.226A>C (p.Lys76Gln) | |
| X | g.23379780A>G | CA412579942 | PTCHD1 | c.541A>G (p.Lys181Glu) c.159-12751A>G c.226A>G (p.Lys76Glu) | |
| X | g.23379780A>T | CA412579943 | PTCHD1 | c.541A>T (p.Lys181Ter) c.159-12751A>T c.226A>T (p.Lys76Ter) | |
| X | g.23379781A= | CA2419636330 | PTCHD1 | c.542A= (p.Lys181=) c.159-12750A= c.227A= (p.Lys76=) | |
| X | g.23379781A>C | CA16609547 | PTCHD1 | c.542A>C (p.Lys181Thr) c.159-12750A>C c.227A>C (p.Lys76Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.23379781A>G | CA412579945 | PTCHD1 | c.542A>G (p.Lys181Arg) c.159-12750A>G c.227A>G (p.Lys76Arg) | |
| X | g.23379781A>T | CA412579946 | PTCHD1 | c.542A>T (p.Lys181Met) c.159-12750A>T c.227A>T (p.Lys76Met) | |
| X | g.23379782G>A | CA515619627 | PTCHD1 | c.543G>A (p.Lys181=) c.159-12749G>A c.228G>A (p.Lys76=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23379782G>C | CA412579947 | PTCHD1 | c.543G>C (p.Lys181Asn) c.159-12749G>C c.228G>C (p.Lys76Asn) | ClinVar |
| X | g.23379782G= | CA2419636331 | PTCHD1 | c.543G= (p.Lys181=) c.159-12749G= c.228G= (p.Lys76=) | |
| X | g.23379782G>T | CA412579948 | PTCHD1 | c.543G>T (p.Lys181Asn) c.159-12749G>T c.228G>T (p.Lys76Asn) | |
| X | g.23379783G>A | CA412579949 | PTCHD1 | c.544G>A (p.Asp182Asn) c.159-12748G>A c.229G>A (p.Asp77Asn) | |
| X | g.23379783G>C | CA412579950 | PTCHD1 | c.544G>C (p.Asp182His) c.159-12748G>C c.229G>C (p.Asp77His) | |
| X | g.23379783G>T | CA412579951 | PTCHD1 | c.544G>T (p.Asp182Tyr) c.159-12748G>T c.229G>T (p.Asp77Tyr) | gnomAD v4 |
| X | g.23379784A>C | CA412579952 | PTCHD1 | c.545A>C (p.Asp182Ala) c.159-12747A>C c.230A>C (p.Asp77Ala) | |
| X | g.23379784A>G | CA412579953 | PTCHD1 | c.545A>G (p.Asp182Gly) c.159-12747A>G c.230A>G (p.Asp77Gly) | |
| X | g.23379784A>T | CA412579954 | PTCHD1 | c.545A>T (p.Asp182Val) c.159-12747A>T c.230A>T (p.Asp77Val) | |
| X | g.23379785C>A | CA412579956 | PTCHD1 | c.546C>A (p.Asp182Glu) c.159-12746C>A c.231C>A (p.Asp77Glu) | |
| X | g.23379785C= | CA2419636332 | PTCHD1 | c.546C= (p.Asp182=) c.159-12746C= c.231C= (p.Asp77=) | |
| X | g.23379785C>G | CA412579955 | PTCHD1 | c.546C>G (p.Asp182Glu) c.159-12746C>G c.231C>G (p.Asp77Glu) | |
| X | g.23379785C>T | CA10369044 | PTCHD1 | c.546C>T (p.Asp182=) c.159-12746C>T c.231C>T (p.Asp77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379785_23379786insCCGG | CA2552990017 | PTCHD1 | c.546_547insCCGG (p.Gly183ProfsTer?) c.159-12746_159-12745insCCGG c.231_232insCCGG (p.Gly78ProfsTer?) | |
| X | g.23379786G>A | CA412579957 | PTCHD1 | c.547G>A (p.Gly183Arg) c.159-12745G>A c.232G>A (p.Gly78Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379786G>C | CA412579958 | PTCHD1 | c.547G>C (p.Gly183Arg) c.159-12745G>C c.232G>C (p.Gly78Arg) | |
| X | g.23379786G= | CA2419636333 | PTCHD1 | c.547G= (p.Gly183=) c.159-12745G= c.232G= (p.Gly78=) | |
| X | g.23379786G>T | CA412579959 | PTCHD1 | c.547G>T (p.Gly183Trp) c.159-12745G>T c.232G>T (p.Gly78Trp) | |
| X | g.23379787G>A | CA412579960 | PTCHD1 | c.548G>A (p.Gly183Glu) c.159-12744G>A c.233G>A (p.Gly78Glu) | |
| X | g.23379787G>C | CA412579961 | PTCHD1 | c.548G>C (p.Gly183Ala) c.159-12744G>C c.233G>C (p.Gly78Ala) | |
| X | g.23379787G>T | CA412579962 | PTCHD1 | c.548G>T (p.Gly183Val) c.159-12744G>T c.233G>T (p.Gly78Val) | |
| X | g.23379788G>A | CA10369045 | PTCHD1 | c.549G>A (p.Gly183=) c.159-12743G>A c.234G>A (p.Gly78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379788G>C | CA327633878 | PTCHD1 | c.549G>C (p.Gly183=) c.159-12743G>C c.234G>C (p.Gly78=) | dbSNP gnomAD v4 |
| X | g.23379788G= | CA2419636334 | PTCHD1 | c.549G= (p.Gly183=) c.159-12743G= c.234G= (p.Gly78=) | |
| X | g.23379788G>T | CA515619633 | PTCHD1 | c.549G>T (p.Gly183=) c.159-12743G>T c.234G>T (p.Gly78=) |