Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.23379681T>A | CA412579731 | PTCHD1 | c.442T>A (p.Cys148Ser) c.159-12850T>A c.127T>A (p.Cys43Ser) | |
X | g.23379681T>C | CA412579732 | PTCHD1 | c.442T>C (p.Cys148Arg) c.159-12850T>C c.127T>C (p.Cys43Arg) | |
X | g.23379681T>G | CA412579733 | PTCHD1 | c.442T>G (p.Cys148Gly) c.159-12850T>G c.127T>G (p.Cys43Gly) | |
X | g.23379682G>A | CA412579734 | PTCHD1 | c.443G>A (p.Cys148Tyr) c.159-12849G>A c.128G>A (p.Cys43Tyr) | |
X | g.23379682G>C | CA412579735 | PTCHD1 | c.443G>C (p.Cys148Ser) c.159-12849G>C c.128G>C (p.Cys43Ser) | |
X | g.23379682G>T | CA412579736 | PTCHD1 | c.443G>T (p.Cys148Phe) c.159-12849G>T c.128G>T (p.Cys43Phe) | |
X | g.23379683C>A | CA412579737 | PTCHD1 | c.444C>A (p.Cys148Ter) c.159-12848C>A c.129C>A (p.Cys43Ter) | |
X | g.23379683C>G | CA412579738 | PTCHD1 | c.444C>G (p.Cys148Trp) c.159-12848C>G c.129C>G (p.Cys43Trp) | |
X | g.23379683C>T | CA515619466 | PTCHD1 | c.444C>T (p.Cys148=) c.159-12848C>T c.129C>T (p.Cys43=) | |
X | g.23379684A= | CA2419636298 | PTCHD1 | c.445A= (p.Ile149=) c.159-12847A= c.130A= (p.Ile44=) | |
X | g.23379684A>C | CA10369030 | PTCHD1 | c.445A>C (p.Ile149Leu) c.159-12847A>C c.130A>C (p.Ile44Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.23379684A>G | CA412579739 | PTCHD1 | c.445A>G (p.Ile149Val) c.159-12847A>G c.130A>G (p.Ile44Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.23379684A>T | CA412579740 | PTCHD1 | c.445A>T (p.Ile149Phe) c.159-12847A>T c.130A>T (p.Ile44Phe) | gnomAD v4 |
X | g.23379685T>A | CA412579741 | PTCHD1 | c.446T>A (p.Ile149Asn) c.159-12846T>A c.131T>A (p.Ile44Asn) | |
X | g.23379685T>C | CA412579742 | PTCHD1 | c.446T>C (p.Ile149Thr) c.159-12846T>C c.131T>C (p.Ile44Thr) | |
X | g.23379685T>G | CA412579743 | PTCHD1 | c.446T>G (p.Ile149Ser) c.159-12846T>G c.131T>G (p.Ile44Ser) | |
X | g.23379686C>A | CA10369031 | PTCHD1 | c.447C>A (p.Ile149=) c.159-12845C>A c.132C>A (p.Ile44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.23379686C= | CA2419636299 | PTCHD1 | c.447C= (p.Ile149=) c.159-12845C= c.132C= (p.Ile44=) | |
X | g.23379686C>G | CA412579744 | PTCHD1 | c.447C>G (p.Ile149Met) c.159-12845C>G c.132C>G (p.Ile44Met) | |
X | g.23379686C>T | CA10369032 | PTCHD1 | c.447C>T (p.Ile149=) c.159-12845C>T c.132C>T (p.Ile44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.23379687G>A | CA10369033 | PTCHD1 | c.448G>A (p.Val150Met) c.159-12844G>A c.133G>A (p.Val45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.23379687G>C | CA412579745 | PTCHD1 | c.448G>C (p.Val150Leu) c.159-12844G>C c.133G>C (p.Val45Leu) | |
X | g.23379687G= | CA2419636300 | PTCHD1 | c.448G= (p.Val150=) c.159-12844G= c.133G= (p.Val45=) | |
X | g.23379687G>T | CA412579746 | PTCHD1 | c.448G>T (p.Val150Leu) c.159-12844G>T c.133G>T (p.Val45Leu) | |
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) |