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.23393496_23393498dup | CA640855619 | PTCHD1 | c.1978_1980dup (p.Glu660_Leu661insGlu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393496_23393498del | CA1131647582 | PTCHD1 | c.1978_1980del (p.Glu660del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.23393497A>C | CA412586948 | PTCHD1 | c.1979A>C (p.Glu660Ala) | |
| X | g.23393497A>G | CA412586947 | PTCHD1 | c.1979A>G (p.Glu660Gly) | |
| X | g.23393497A>T | CA412586946 | PTCHD1 | c.1979A>T (p.Glu660Val) | |
| X | g.23393498A>C | CA412586949 | PTCHD1 | c.1980A>C (p.Glu660Asp) | |
| X | g.23393498A>G | CA515620276 | PTCHD1 | c.1980A>G (p.Glu660=) | |
| X | g.23393498A>T | CA412586950 | PTCHD1 | c.1980A>T (p.Glu660Asp) | |
| X | g.23393499C>A | CA412586951 | PTCHD1 | c.1981C>A (p.Leu661Ile) | |
| X | g.23393499C>G | CA412586952 | PTCHD1 | c.1981C>G (p.Leu661Val) | gnomAD v4 |
| X | g.23393499C>T | CA412586953 | PTCHD1 | c.1981C>T (p.Leu661Phe) | gnomAD v4 |
| X | g.23393500T>A | CA412586954 | PTCHD1 | c.1982T>A (p.Leu661His) | |
| X | g.23393500T>C | CA10369206 | PTCHD1 | c.1982T>C (p.Leu661Pro) | dbSNP ExAC |
| X | g.23393500T>G | CA412586955 | PTCHD1 | c.1982T>G (p.Leu661Arg) | |
| X | g.23393500T= | CA2419640786 | PTCHD1 | c.1982T= (p.Leu661=) | |
| X | g.23393501C>A | CA515620277 | PTCHD1 | c.1983C>A (p.Leu661=) | |
| X | g.23393501C>G | CA515620279 | PTCHD1 | c.1983C>G (p.Leu661=) | |
| X | g.23393501C>T | CA515620281 | PTCHD1 | c.1983C>T (p.Leu661=) | |
| X | g.23393501_23393503delinsCTA | CA2419640787 | PTCHD1 | c.1983_1985delinsCTA (p.Leu661=) | |
| X | g.23393502T>A | CA412586956 | PTCHD1 | c.1984T>A (p.Tyr662Asn) | |
| X | g.23393502T>C | CA412586957 | PTCHD1 | c.1984T>C (p.Tyr662His) | |
| X | g.23393502T>G | CA412586958 | PTCHD1 | c.1984T>G (p.Tyr662Asp) | |
| X | g.23393503_23393504del | CA1139667305 | PTCHD1 | c.1985_1986del (p.Tyr662Ter) | ClinVar dbSNP |
| X | g.23393503A= | CA2419640788 | PTCHD1 | c.1985A= (p.Tyr662=) | |
| X | g.23393503A>C | CA412586959 | PTCHD1 | c.1985A>C (p.Tyr662Ser) | |
| X | g.23393503A>G | CA412586960 | PTCHD1 | c.1985A>G (p.Tyr662Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393503A>T | CA412586961 | PTCHD1 | c.1985A>T (p.Tyr662Phe) | |
| X | g.23393504T>A | CA412586963 | PTCHD1 | c.1986T>A (p.Tyr662Ter) | |
| X | g.23393504T>C | CA515620283 | PTCHD1 | c.1986T>C (p.Tyr662=) | |
| X | g.23393504T>G | CA412586962 | PTCHD1 | c.1986T>G (p.Tyr662Ter) | gnomAD v4 |
| X | g.23393505G>A | CA412586964 | PTCHD1 | c.1987G>A (p.Asp663Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23393505G>C | CA327634980 | PTCHD1 | c.1987G>C (p.Asp663His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393505G= | CA2419640789 | PTCHD1 | c.1987G= (p.Asp663=) | |
| X | g.23393505G>T | CA412586965 | PTCHD1 | c.1987G>T (p.Asp663Tyr) | |
| X | g.23393506A= | CA2419640790 | PTCHD1 | c.1988A= (p.Asp663=) | |
| X | g.23393506A>C | CA412586966 | PTCHD1 | c.1988A>C (p.Asp663Ala) | |
| X | g.23393506A>G | CA412586967 | PTCHD1 | c.1988A>G (p.Asp663Gly) | gnomAD v4 |
| X | g.23393506A>T | CA412586968 | PTCHD1 | c.1988A>T (p.Asp663Val) | dbSNP |
| X | g.23393507_23393508insAGAAT | CA2541594761 | PTCHD1 | c.1989_1990insAGAAT (p.Leu664ArgfsTer7) | |
| X | g.23393507T>A | CA412586969 | PTCHD1 | c.1989T>A (p.Asp663Glu) | |
| X | g.23393507T>C | CA515620287 | PTCHD1 | c.1989T>C (p.Asp663=) | |
| X | g.23393507T>G | CA412586970 | PTCHD1 | c.1989T>G (p.Asp663Glu) | |
| X | g.23393507_23393508insAGAATTAA | CA2528278884 | PTCHD1 | c.1989_1990insAGAATTAA (p.Leu664ArgfsTer8) | |
| X | g.23393507_23393508insAGGATTAA | CA2532252049 | PTCHD1 | c.1989_1990insAGGATTAA (p.Leu664ArgfsTer8) | |
| X | g.23393507_23393508insAGGATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGTTTAGTTGAAGAGGTAGAAAATCTTTACAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA | CA2558040565 | PTCHD1 | c.1989_1990insAGGATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGTTTAGTTGAAGAGGTAGAAAATCTTTACAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA (p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetPheGluGluGlyLeuValGluGluValGluAsnLeuTyrLysIleTyrGlyGluLysLeuTyrAsnLeuAsnIleIleGlyTyrAsnGlu) | |
| X | g.23393507_23393508insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA | CA2532936927 | PTCHD1 | c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA (p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetPheGluGluGlyLeuValGluGluValGluAsnLeuTyrLysIleTyrGlyGluLysLeuTyrAsnLeuAsnIleIleGlyTyrAsnGlu) | |
| X | g.23393508C>A | CA412586971 | PTCHD1 | c.1990C>A (p.Leu664Ile) | |
| X | g.23393508C>G | CA412586972 | PTCHD1 | c.1990C>G (p.Leu664Val) | |
| X | g.23393508C>T | CA412586973 | PTCHD1 | c.1990C>T (p.Leu664Phe) | |
| X | g.23393508_23393509insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAAAAAA | CA2502034828 | PTCHD1 | c.1990_1991insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAAAAAA (p.Leu664GlnfsTer4) | |
| X | g.23393508_23393509insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTAAAGAGGTAGAAAA | CA2554035103 | PTCHD1 | c.1990_1991insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTAAAGAGGTAGAAAA (p.Leu664GlnfsTer4) | |
| X | g.23393508_23393509insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA | CA2558517027 | PTCHD1 | c.1990_1991insAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA (p.Leu664GlnfsTer4) | |
| X | g.23393508_23393509insAAAAGAGTTGATATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA | CA2524252733 | PTCHD1 | c.1990_1991insAAAAGAGTTGATATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA (p.Leu664GlnfsTer4) | |
| X | g.23393508_23393509insAATAAAAGAGTTGATATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA | CA2547925604 | PTCHD1 | c.1990_1991insAATAAAAGAGTTGATATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAA (p.Leu664GlnfsTer2) | |
| X | g.23393509T>A | CA412586974 | PTCHD1 | c.1991T>A (p.Leu664His) | |
| X | g.23393509T>C | CA412586975 | PTCHD1 | c.1991T>C (p.Leu664Pro) | gnomAD v4 |
| X | g.23393509T>G | CA412586976 | PTCHD1 | c.1991T>G (p.Leu664Arg) | |
| X | g.23393510C>A | CA515620291 | PTCHD1 | c.1992C>A (p.Leu664=) | |
| X | g.23393510C>G | CA515620293 | PTCHD1 | c.1992C>G (p.Leu664=) | |
| X | g.23393510C>T | CA515620294 | PTCHD1 | c.1992C>T (p.Leu664=) | |
| X | g.23393511T>A | CA412586977 | PTCHD1 | c.1993T>A (p.Leu665Met) | |
| X | g.23393511T>C | CA515620295 | PTCHD1 | c.1993T>C (p.Leu665=) | gnomAD v4 |
| X | g.23393511T>G | CA412586978 | PTCHD1 | c.1993T>G (p.Leu665Val) | |
| X | g.23393512_23393513insTACAAGATATATGGAGAGAAATTATACAATTTAAATATAATTGGCTATAACGAACTTATAGATTATT | CA2562389814 | PTCHD1 | c.1994_1995insTACAAGATATATGGAGAGAAATTATACAATTTAAATATAATTGGCTATAACGAACTTATAGATTATT (p.Leu665PhefsTer12) | |
| X | g.23393512_23393513insTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTATAGATTATT | CA2539928305 | PTCHD1 | c.1994_1995insTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTATAGATTATT (p.Leu665PhefsTer12) | |
| X | g.23393512T>A | CA412586979 | PTCHD1 | c.1994T>A (p.Leu665Ter) | |
| X | g.23393512T>C | CA412586981 | PTCHD1 | c.1994T>C (p.Leu665Ser) | |
| X | g.23393512T>G | CA412586980 | PTCHD1 | c.1994T>G (p.Leu665Trp) | |
| X | g.23393512_23393513insTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTAT | CA2544070260 | PTCHD1 | c.1994_1995insTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTAT (p.Leu665PhefsTer12) | |
| X | g.23393512_23393513insTATAAAATATATGGAGAAAAATTATATAGTTTAAATATAATTGGCTATAACGAACTTAT | CA2541593668 | PTCHD1 | c.1994_1995insTATAAAATATATGGAGAAAAATTATATAGTTTAAATATAATTGGCTATAACGAACTTAT (p.Leu665PhefsTer12) | |
| X | g.23393512_23393513insTACAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTAT | CA2569327538 | PTCHD1 | c.1994_1995insTACAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTAT (p.Leu665PhefsTer12) | |
| X | g.23393512_23393513insTACAA | CA2521669643 | PTCHD1 | c.1994_1995insTACAA (p.Leu665PhefsTer6) | |
| X | g.23393512_23393513insTATAA | CA2546114449 | PTCHD1 | c.1994_1995insTATAA (p.Leu665PhefsTer6) | |
| X | g.23393513G>A | CA10369207 | PTCHD1 | c.1995G>A (p.Leu665=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23393513G>C | CA412586983 | PTCHD1 | c.1995G>C (p.Leu665Phe) | |
| X | g.23393513G= | CA2419640792 | PTCHD1 | c.1995G= (p.Leu665=) | |
| X | g.23393513G>T | CA412586982 | PTCHD1 | c.1995G>T (p.Leu665Phe) | |
| X | g.23393513_23393514insATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTATA | CA2539689724 | PTCHD1 | c.1995_1996insATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAACTTATA (p.Leu665_Glu666insIleTyrGlyGluLysLeuTyrAsnLeuAsnIleIleGlyTyrAsnGluLeuIle) | |
| X | g.23393514G>A | CA412586984 | PTCHD1 | c.1996G>A (p.Glu666Lys) | |
| X | g.23393514G>C | CA412586986 | PTCHD1 | c.1996G>C (p.Glu666Gln) | |
| X | g.23393514G>T | CA412586985 | PTCHD1 | c.1996G>T (p.Glu666Ter) | |
| X | g.23393515A>C | CA412586987 | PTCHD1 | c.1997A>C (p.Glu666Ala) | |
| X | g.23393515A>G | CA412586989 | PTCHD1 | c.1997A>G (p.Glu666Gly) | |
| X | g.23393515A>T | CA412586988 | PTCHD1 | c.1997A>T (p.Glu666Val) | |
| X | g.23393516A>C | CA412586990 | PTCHD1 | c.1998A>C (p.Glu666Asp) | |
| X | g.23393516A>G | CA515620303 | PTCHD1 | c.1998A>G (p.Glu666=) | |
| X | g.23393516A>T | CA412586991 | PTCHD1 | c.1998A>T (p.Glu666Asp) | |
| X | g.23393517A>C | CA412586992 | PTCHD1 | c.1999A>C (p.Thr667Pro) | |
| X | g.23393517A>G | CA412586994 | PTCHD1 | c.1999A>G (p.Thr667Ala) | |
| X | g.23393517A>T | CA412586993 | PTCHD1 | c.1999A>T (p.Thr667Ser) | |
| X | g.23393518C>A | CA412586995 | PTCHD1 | c.2000C>A (p.Thr667Asn) | |
| X | g.23393518C= | CA2419640794 | PTCHD1 | c.2000C= (p.Thr667=) | |
| X | g.23393518C>G | CA412586997 | PTCHD1 | c.2000C>G (p.Thr667Ser) | dbSNP |
| X | g.23393518C>T | CA412586996 | PTCHD1 | c.2000C>T (p.Thr667Ile) | |
| X | g.23393519C>A | CA515620305 | PTCHD1 | c.2001C>A (p.Thr667=) | |
| X | g.23393519C>G | CA515620306 | PTCHD1 | c.2001C>G (p.Thr667=) | |
| X | g.23393519C>T | CA515620307 | PTCHD1 | c.2001C>T (p.Thr667=) | |
| X | g.23393520C>A | CA412586998 | PTCHD1 | c.2002C>A (p.Leu668Met) | |
| X | g.23393520C>G | CA412586999 | PTCHD1 | c.2002C>G (p.Leu668Val) | |
| X | g.23393520C>T | CA515620308 | PTCHD1 | c.2002C>T (p.Leu668=) | |
| X | g.23393521T>A | CA412587000 | PTCHD1 | c.2003T>A (p.Leu668Gln) | |
| X | g.23393521T>C | CA412587001 | PTCHD1 | c.2003T>C (p.Leu668Pro) | |
| X | g.23393521T>G | CA412587002 | PTCHD1 | c.2003T>G (p.Leu668Arg) | |
| X | g.23393522G>A | CA515620312 | PTCHD1 | c.2004G>A (p.Leu668=) | gnomAD v4 |
| X | g.23393522G>C | CA515620313 | PTCHD1 | c.2004G>C (p.Leu668=) | |
| X | g.23393522G>T | CA515620314 | PTCHD1 | c.2004G>T (p.Leu668=) | |
| X | g.23393523A>C | CA515620316 | PTCHD1 | c.2005A>C (p.Arg669=) | |
| X | g.23393523A>G | CA412587003 | PTCHD1 | c.2005A>G (p.Arg669Gly) | |
| X | g.23393523A>T | CA412587004 | PTCHD1 | c.2005A>T (p.Arg669Trp) | |
| X | g.23393524G>A | CA412587005 | PTCHD1 | c.2006G>A (p.Arg669Lys) | |
| X | g.23393524G>C | CA412587007 | PTCHD1 | c.2006G>C (p.Arg669Thr) | |
| X | g.23393524G>T | CA412587006 | PTCHD1 | c.2006G>T (p.Arg669Met) | COSMIC COSMIC |
| X | g.23393525G>A | CA515620317 | PTCHD1 | c.2007G>A (p.Arg669=) | |
| X | g.23393525G>C | CA412587008 | PTCHD1 | c.2007G>C (p.Arg669Ser) | |
| X | g.23393525G>T | CA412587009 | PTCHD1 | c.2007G>T (p.Arg669Ser) | |
| X | g.23393526A>C | CA515620319 | PTCHD1 | c.2008A>C (p.Arg670=) | |
| X | g.23393526A>G | CA412587010 | PTCHD1 | c.2008A>G (p.Arg670Gly) | |
| X | g.23393526A>T | CA412587011 | PTCHD1 | c.2008A>T (p.Arg670Ter) | |
| X | g.23393527G>A | CA412587012 | PTCHD1 | c.2009G>A (p.Arg670Lys) | |
| X | g.23393527G>C | CA412587014 | PTCHD1 | c.2009G>C (p.Arg670Thr) | gnomAD v4 |
| X | g.23393527G>T | CA412587013 | PTCHD1 | c.2009G>T (p.Arg670Ile) | |
| X | g.23393528A>C | CA412587015 | PTCHD1 | c.2010A>C (p.Arg670Ser) | |
| X | g.23393528A>G | CA515620321 | PTCHD1 | c.2010A>G (p.Arg670=) | |
| X | g.23393528A>T | CA412587016 | PTCHD1 | c.2010A>T (p.Arg670Ser) | |
| X | g.23393529C>A | CA412587017 | PTCHD1 | c.2011C>A (p.Leu671Ile) | |
| X | g.23393529C>G | CA412587018 | PTCHD1 | c.2011C>G (p.Leu671Val) | |
| X | g.23393529C>T | CA412587019 | PTCHD1 | c.2011C>T (p.Leu671Phe) | gnomAD v4 |
| X | g.23393530T>A | CA412587020 | PTCHD1 | c.2012T>A (p.Leu671His) | COSMIC COSMIC |
| X | g.23393530T>C | CA412587021 | PTCHD1 | c.2012T>C (p.Leu671Pro) | |
| X | g.23393530T>G | CA412587022 | PTCHD1 | c.2012T>G (p.Leu671Arg) | |
| X | g.23393531T>A | CA515620323 | PTCHD1 | c.2013T>A (p.Leu671=) | |
| X | g.23393531T>C | CA515620324 | PTCHD1 | c.2013T>C (p.Leu671=) | |
| X | g.23393531T>G | CA515620325 | PTCHD1 | c.2013T>G (p.Leu671=) | |
| X | g.23393532T>A | CA412587023 | PTCHD1 | c.2014T>A (p.Ser672Thr) | |
| X | g.23393532T>C | CA412587024 | PTCHD1 | c.2014T>C (p.Ser672Pro) | |
| X | g.23393532T>G | CA412587025 | PTCHD1 | c.2014T>G (p.Ser672Ala) | |
| X | g.23393533C>A | CA412587026 | PTCHD1 | c.2015C>A (p.Ser672Tyr) | |
| X | g.23393533C>G | CA412587028 | PTCHD1 | c.2015C>G (p.Ser672Cys) | |
| X | g.23393533C>T | CA412587027 | PTCHD1 | c.2015C>T (p.Ser672Phe) | |
| X | g.23393534T>A | CA515620327 | PTCHD1 | c.2016T>A (p.Ser672=) | |
| X | g.23393534T>C | CA515620328 | PTCHD1 | c.2016T>C (p.Ser672=) | |
| X | g.23393534T>G | CA515620329 | PTCHD1 | c.2016T>G (p.Ser672=) | |
| X | g.23393535G>A | CA412587029 | PTCHD1 | c.2017G>A (p.Val673Ile) | |
| X | g.23393535G>C | CA412587030 | PTCHD1 | c.2017G>C (p.Val673Leu) | |
| X | g.23393535G>T | CA412587031 | PTCHD1 | c.2017G>T (p.Val673Phe) | |
| X | g.23393536T>A | CA412587032 | PTCHD1 | c.2018T>A (p.Val673Asp) | |
| X | g.23393536T>C | CA412587033 | PTCHD1 | c.2018T>C (p.Val673Ala) | COSMIC COSMIC |
| X | g.23393536T>G | CA412587034 | PTCHD1 | c.2018T>G (p.Val673Gly) | |
| X | g.23393537C>A | CA515620333 | PTCHD1 | c.2019C>A (p.Val673=) | |
| X | g.23393537C= | CA2419640796 | PTCHD1 | c.2019C= (p.Val673=) | |
| X | g.23393537C>G | CA10369208 | PTCHD1 | c.2019C>G (p.Val673=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23393537C>T | CA515620334 | PTCHD1 | c.2019C>T (p.Val673=) | |
| X | g.23393538A>C | CA412587035 | PTCHD1 | c.2020A>C (p.Thr674Pro) | |
| X | g.23393538A>G | CA412587036 | PTCHD1 | c.2020A>G (p.Thr674Ala) | |
| X | g.23393538A>T | CA412587037 | PTCHD1 | c.2020A>T (p.Thr674Ser) | |
| X | g.23393539C>A | CA412587040 | PTCHD1 | c.2021C>A (p.Thr674Asn) | |
| X | g.23393539C>G | CA412587039 | PTCHD1 | c.2021C>G (p.Thr674Ser) | |
| X | g.23393539C>T | CA412587038 | PTCHD1 | c.2021C>T (p.Thr674Ile) | |
| X | g.23393540C>A | CA515620335 | PTCHD1 | c.2022C>A (p.Thr674=) | |
| X | g.23393540C>G | CA515620336 | PTCHD1 | c.2022C>G (p.Thr674=) | |
| X | g.23393540C>T | CA515620337 | PTCHD1 | c.2022C>T (p.Thr674=) | gnomAD v4 |
| X | g.23393541T>A | CA412587041 | PTCHD1 | c.2023T>A (p.Ser675Thr) | |
| X | g.23393541T>C | CA412587042 | PTCHD1 | c.2023T>C (p.Ser675Pro) | |
| X | g.23393541T>G | CA412587043 | PTCHD1 | c.2023T>G (p.Ser675Ala) | |
| X | g.23393542C>A | CA412587044 | PTCHD1 | c.2024C>A (p.Ser675Tyr) | COSMIC COSMIC |
| X | g.23393542C>G | CA412587045 | PTCHD1 | c.2024C>G (p.Ser675Cys) | |
| X | g.23393542C>T | CA412587046 | PTCHD1 | c.2024C>T (p.Ser675Phe) | |
| X | g.23393543C>A | CA515620339 | PTCHD1 | c.2025C>A (p.Ser675=) | |
| X | g.23393543C= | CA2419640799 | PTCHD1 | c.2025C= (p.Ser675=) | |
| X | g.23393543C>G | CA515620340 | PTCHD1 | c.2025C>G (p.Ser675=) | |
| X | g.23393543C>T | CA515620341 | PTCHD1 | c.2025C>T (p.Ser675=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393544A>C | CA412587047 | PTCHD1 | c.2026A>C (p.Lys676Gln) | |
| X | g.23393544A>G | CA412587048 | PTCHD1 | c.2026A>G (p.Lys676Glu) | |
| X | g.23393544A>T | CA412587049 | PTCHD1 | c.2026A>T (p.Lys676Ter) | |
| X | g.23393545A>C | CA412587050 | PTCHD1 | c.2027A>C (p.Lys676Thr) | |
| X | g.23393545A>G | CA412587051 | PTCHD1 | c.2027A>G (p.Lys676Arg) | |
| X | g.23393545A>T | CA412587052 | PTCHD1 | c.2027A>T (p.Lys676Met) | |
| X | g.23393546G>A | CA515620342 | PTCHD1 | c.2028G>A (p.Lys676=) | |
| X | g.23393546G>C | CA412587054 | PTCHD1 | c.2028G>C (p.Lys676Asn) | |
| X | g.23393546G>T | CA412587053 | PTCHD1 | c.2028G>T (p.Lys676Asn) | |
| X | g.23393547G>A | CA412587055 | PTCHD1 | c.2029G>A (p.Val677Met) | gnomAD v4 |
| X | g.23393547G>C | CA412587057 | PTCHD1 | c.2029G>C (p.Val677Leu) | |
| X | g.23393547G>T | CA412587056 | PTCHD1 | c.2029G>T (p.Val677Leu) | gnomAD v4 |
| X | g.23393548T>A | CA412587058 | PTCHD1 | c.2030T>A (p.Val677Glu) | |
| X | g.23393548T>C | CA412587059 | PTCHD1 | c.2030T>C (p.Val677Ala) | |
| X | g.23393548T>G | CA412587060 | PTCHD1 | c.2030T>G (p.Val677Gly) | |
| X | g.23393549G>A | CA515620344 | PTCHD1 | c.2031G>A (p.Val677=) | gnomAD v4 |
| X | g.23393549G>C | CA10369209 | PTCHD1 | c.2031G>C (p.Val677=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23393549G= | CA2419640803 | PTCHD1 | c.2031G= (p.Val677=) | |
| X | g.23393549G>T | CA207206 | PTCHD1 | c.2031G>T (p.Val677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393550A>C | CA412587061 | PTCHD1 | c.2032A>C (p.Lys678Gln) | |
| X | g.23393550A>G | CA412587062 | PTCHD1 | c.2032A>G (p.Lys678Glu) | |
| X | g.23393550A>T | CA412587063 | PTCHD1 | c.2032A>T (p.Lys678Ter) | |
| X | g.23393551A>C | CA412587064 | PTCHD1 | c.2033A>C (p.Lys678Thr) | |
| X | g.23393551A>G | CA412587065 | PTCHD1 | c.2033A>G (p.Lys678Arg) | |
| X | g.23393551A>T | CA412587066 | PTCHD1 | c.2033A>T (p.Lys678Met) | |
| X | g.23393552G>A | CA515620346 | PTCHD1 | c.2034G>A (p.Lys678=) | |
| X | g.23393552G>C | CA412587068 | PTCHD1 | c.2034G>C (p.Lys678Asn) | |
| X | g.23393552G>T | CA412587067 | PTCHD1 | c.2034G>T (p.Lys678Asn) | gnomAD v4 |
| X | g.23393553T>A | CA412587069 | PTCHD1 | c.2035T>A (p.Phe679Ile) | |
| X | g.23393553T>C | CA412587070 | PTCHD1 | c.2035T>C (p.Phe679Leu) | |
| X | g.23393553T>G | CA412587071 | PTCHD1 | c.2035T>G (p.Phe679Val) | |
| X | g.23393554T>A | CA412587072 | PTCHD1 | c.2036T>A (p.Phe679Tyr) | |
| X | g.23393554T>C | CA412587073 | PTCHD1 | c.2036T>C (p.Phe679Ser) | |
| X | g.23393554T>G | CA412587074 | PTCHD1 | c.2036T>G (p.Phe679Cys) | |
| X | g.23393555C>A | CA412587075 | PTCHD1 | c.2037C>A (p.Phe679Leu) | |
| X | g.23393555C>G | CA412587076 | PTCHD1 | c.2037C>G (p.Phe679Leu) | |
| X | g.23393555C>T | CA515620348 | PTCHD1 | c.2037C>T (p.Phe679=) | |
| X | g.23393556A>C | CA412587077 | PTCHD1 | c.2038A>C (p.Ile680Leu) | gnomAD v4 |
| X | g.23393556A>G | CA412587078 | PTCHD1 | c.2038A>G (p.Ile680Val) | |
| X | g.23393556A>T | CA412587079 | PTCHD1 | c.2038A>T (p.Ile680Phe) | ClinVar |
| X | g.23393557T>A | CA412587081 | PTCHD1 | c.2039T>A (p.Ile680Asn) | |
| X | g.23393557T>C | CA412587082 | PTCHD1 | c.2039T>C (p.Ile680Thr) | |
| X | g.23393557T>G | CA412587080 | PTCHD1 | c.2039T>G (p.Ile680Ser) | |
| X | g.23393558C>A | CA515620350 | PTCHD1 | c.2040C>A (p.Ile680=) | |
| X | g.23393558C= | CA2419640809 | PTCHD1 | c.2040C= (p.Ile680=) | |
| X | g.23393558C>G | CA412587083 | PTCHD1 | c.2040C>G (p.Ile680Met) | |
| X | g.23393558C>T | CA515620351 | PTCHD1 | c.2040C>T (p.Ile680=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393559G>A | CA243600 | PTCHD1 | c.2041G>A (p.Val681Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.23393559G>C | CA412587084 | PTCHD1 | c.2041G>C (p.Val681Leu) | |
| X | g.23393559G= | CA2419640813 | PTCHD1 | c.2041G= (p.Val681=) | |
| X | g.23393559G>T | CA412587085 | PTCHD1 | c.2041G>T (p.Val681Phe) | |
| X | g.23393560T>A | CA412587086 | PTCHD1 | c.2042T>A (p.Val681Asp) | |
| X | g.23393560T>C | CA412587087 | PTCHD1 | c.2042T>C (p.Val681Ala) | |
| X | g.23393560T>G | CA412587088 | PTCHD1 | c.2042T>G (p.Val681Gly) | |
| X | g.23393561C>A | CA515620353 | PTCHD1 | c.2043C>A (p.Val681=) | |
| X | g.23393561C>G | CA515620354 | PTCHD1 | c.2043C>G (p.Val681=) | |
| X | g.23393561C>T | CA515620355 | PTCHD1 | c.2043C>T (p.Val681=) | |
| X | g.23393562T>A | CA412587089 | PTCHD1 | c.2044T>A (p.Phe682Ile) | |
| X | g.23393562T>C | CA412587090 | PTCHD1 | c.2044T>C (p.Phe682Leu) | |
| X | g.23393562T>G | CA412587091 | PTCHD1 | c.2044T>G (p.Phe682Val) | |
| X | g.23393563T>A | CA412587092 | PTCHD1 | c.2045T>A (p.Phe682Tyr) | |
| X | g.23393563T>C | CA412587093 | PTCHD1 | c.2045T>C (p.Phe682Ser) | |
| X | g.23393563T>G | CA412587094 | PTCHD1 | c.2045T>G (p.Phe682Cys) | |
| X | g.23393564C>A | CA412587096 | PTCHD1 | c.2046C>A (p.Phe682Leu) | |
| X | g.23393564C>G | CA412587095 | PTCHD1 | c.2046C>G (p.Phe682Leu) | |
| X | g.23393564C>T | CA515620356 | PTCHD1 | c.2046C>T (p.Phe682=) | gnomAD v4 COSMIC COSMIC |
| X | g.23393565A>C | CA412587097 | PTCHD1 | c.2047A>C (p.Asn683His) | |
| X | g.23393565A>G | CA412587098 | PTCHD1 | c.2047A>G (p.Asn683Asp) | |
| X | g.23393565A>T | CA412587099 | PTCHD1 | c.2047A>T (p.Asn683Tyr) | |
| X | g.23393566A>C | CA412587100 | PTCHD1 | c.2048A>C (p.Asn683Thr) | |
| X | g.23393566A>G | CA412587101 | PTCHD1 | c.2048A>G (p.Asn683Ser) | ClinVar dbSNP |
| X | g.23393566A>T | CA412587102 | PTCHD1 | c.2048A>T (p.Asn683Ile) | |
| X | g.23393567T>A | CA412587103 | PTCHD1 | c.2049T>A (p.Asn683Lys) | |
| X | g.23393567T>C | CA515620360 | PTCHD1 | c.2049T>C (p.Asn683=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393567T>G | CA412587104 | PTCHD1 | c.2049T>G (p.Asn683Lys) | |
| X | g.23393567T= | CA2419640817 | PTCHD1 | c.2049T= (p.Asn683=) | |
| X | g.23393568C>A | CA412587105 | PTCHD1 | c.2050C>A (p.Pro684Thr) | |
| X | g.23393568C>G | CA412587106 | PTCHD1 | c.2050C>G (p.Pro684Ala) | |
| X | g.23393568C>T | CA412587107 | PTCHD1 | c.2050C>T (p.Pro684Ser) | |
| X | g.23393569C>A | CA412587108 | PTCHD1 | c.2051C>A (p.Pro684Gln) | |
| X | g.23393569C= | CA2419640819 | PTCHD1 | c.2051C= (p.Pro684=) | |
| X | g.23393569C>G | CA412587109 | PTCHD1 | c.2051C>G (p.Pro684Arg) | |
| X | g.23393569C>T | CA412587110 | PTCHD1 | c.2051C>T (p.Pro684Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.23393570G>A | CA515620364 | PTCHD1 | c.2052G>A (p.Pro684=) | dbSNP gnomAD v4 |
| X | g.23393570G>C | CA515620363 | PTCHD1 | c.2052G>C (p.Pro684=) | |
| X | g.23393570G= | CA2419640833 | PTCHD1 | c.2052G= (p.Pro684=) | |
| X | g.23393570G>T | CA515620362 | PTCHD1 | c.2052G>T (p.Pro684=) | |
| X | g.23393571T>A | CA412587112 | PTCHD1 | c.2053T>A (p.Ser685Thr) | |
| X | g.23393571T>C | CA412587113 | PTCHD1 | c.2053T>C (p.Ser685Pro) | |
| X | g.23393571T>G | CA412587111 | PTCHD1 | c.2053T>G (p.Ser685Ala) | |
| X | g.23393572C>A | CA412587116 | PTCHD1 | c.2054C>A (p.Ser685Tyr) | |
| X | g.23393572C>G | CA412587114 | PTCHD1 | c.2054C>G (p.Ser685Cys) | |
| X | g.23393572C>T | CA412587115 | PTCHD1 | c.2054C>T (p.Ser685Phe) | |
| X | g.23393573C>A | CA515620366 | PTCHD1 | c.2055C>A (p.Ser685=) | |
| X | g.23393573C>G | CA515620368 | PTCHD1 | c.2055C>G (p.Ser685=) | |
| X | g.23393573C>T | CA515620367 | PTCHD1 | c.2055C>T (p.Ser685=) | |
| X | g.23393574T>A | CA412587117 | PTCHD1 | c.2056T>A (p.Phe686Ile) | |
| X | g.23393574T>C | CA412587118 | PTCHD1 | c.2056T>C (p.Phe686Leu) | |
| X | g.23393574T>G | CA412587119 | PTCHD1 | c.2056T>G (p.Phe686Val) | |
| X | g.23393575T>A | CA412587120 | PTCHD1 | c.2057T>A (p.Phe686Tyr) | |
| X | g.23393575T>C | CA412587121 | PTCHD1 | c.2057T>C (p.Phe686Ser) | |
| X | g.23393575T>G | CA412587122 | PTCHD1 | c.2057T>G (p.Phe686Cys) | |
| X | g.23393576T>A | CA412587123 | PTCHD1 | c.2058T>A (p.Phe686Leu) | |
| X | g.23393576T>C | CA515620371 | PTCHD1 | c.2058T>C (p.Phe686=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393576T>G | CA412587124 | PTCHD1 | c.2058T>G (p.Phe686Leu) | |
| X | g.23393576T= | CA2419640835 | PTCHD1 | c.2058T= (p.Phe686=) | |
| X | g.23393577G>A | CA412587125 | PTCHD1 | c.2059G>A (p.Val687Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393577G>C | CA412587126 | PTCHD1 | c.2059G>C (p.Val687Leu) | gnomAD v4 |
| X | g.23393577G= | CA2419640838 | PTCHD1 | c.2059G= (p.Val687=) | |
| X | g.23393577G>T | CA412587127 | PTCHD1 | c.2059G>T (p.Val687Leu) | gnomAD v4 |
| X | g.23393578T>A | CA412587128 | PTCHD1 | c.2060T>A (p.Val687Glu) | |
| X | g.23393578T>C | CA412587130 | PTCHD1 | c.2060T>C (p.Val687Ala) | |
| X | g.23393578T>G | CA412587129 | PTCHD1 | c.2060T>G (p.Val687Gly) | |
| X | g.23393579A>C | CA515620372 | PTCHD1 | c.2061A>C (p.Val687=) | |
| X | g.23393579A>G | CA515620374 | PTCHD1 | c.2061A>G (p.Val687=) | |
| X | g.23393579A>T | CA515620375 | PTCHD1 | c.2061A>T (p.Val687=) | |
| X | g.23393580T>A | CA412587131 | PTCHD1 | c.2062T>A (p.Tyr688Asn) | |
| X | g.23393580T>C | CA412587132 | PTCHD1 | c.2062T>C (p.Tyr688His) | |
| X | g.23393580T>G | CA412587133 | PTCHD1 | c.2062T>G (p.Tyr688Asp) | |
| X | g.23393581A>C | CA412587134 | PTCHD1 | c.2063A>C (p.Tyr688Ser) | |
| X | g.23393581A>G | CA412587135 | PTCHD1 | c.2063A>G (p.Tyr688Cys) | |
| X | g.23393581A>T | CA412587136 | PTCHD1 | c.2063A>T (p.Tyr688Phe) | |
| X | g.23393582C>A | CA412587137 | PTCHD1 | c.2064C>A (p.Tyr688Ter) | |
| X | g.23393582C>G | CA412587138 | PTCHD1 | c.2064C>G (p.Tyr688Ter) | |
| X | g.23393582C>T | CA515620376 | PTCHD1 | c.2064C>T (p.Tyr688=) | |
| X | g.23393583A= | CA2419640841 | PTCHD1 | c.2065A= (p.Met689=) | |
| X | g.23393583A>C | CA412587139 | PTCHD1 | c.2065A>C (p.Met689Leu) | |
| X | g.23393583A>G | CA327634981 | PTCHD1 | c.2065A>G (p.Met689Val) | dbSNP gnomAD v4 |
| X | g.23393583A>T | CA412587140 | PTCHD1 | c.2065A>T (p.Met689Leu) | |
| X | g.23393584T>A | CA412587142 | PTCHD1 | c.2066T>A (p.Met689Lys) | |
| X | g.23393584T>C | CA10369210 | PTCHD1 | c.2066T>C (p.Met689Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393584T>G | CA412587141 | PTCHD1 | c.2066T>G (p.Met689Arg) | dbSNP |
| X | g.23393584T= | CA2419640845 | PTCHD1 | c.2066T= (p.Met689=) | |
| X | g.23393585G>A | CA412587145 | PTCHD1 | c.2067G>A (p.Met689Ile) | |
| X | g.23393585G>C | CA412587143 | PTCHD1 | c.2067G>C (p.Met689Ile) | |
| X | g.23393585G>T | CA412587144 | PTCHD1 | c.2067G>T (p.Met689Ile) | |
| X | g.23393586G>A | CA412587146 | PTCHD1 | c.2068G>A (p.Asp690Asn) | |
| X | g.23393586G>C | CA412587147 | PTCHD1 | c.2068G>C (p.Asp690His) | |
| X | g.23393586G>T | CA412587148 | PTCHD1 | c.2068G>T (p.Asp690Tyr) | |
| X | g.23393587A>C | CA412587149 | PTCHD1 | c.2069A>C (p.Asp690Ala) | |
| X | g.23393587A>G | CA412587150 | PTCHD1 | c.2069A>G (p.Asp690Gly) | |
| X | g.23393587A>T | CA412587151 | PTCHD1 | c.2069A>T (p.Asp690Val) | |
| X | g.23393588T>A | CA412587152 | PTCHD1 | c.2070T>A (p.Asp690Glu) | |
| X | g.23393588T>C | CA515620383 | PTCHD1 | c.2070T>C (p.Asp690=) | |
| X | g.23393588T>G | CA412587153 | PTCHD1 | c.2070T>G (p.Asp690Glu) | |
| X | g.23393589C>A | CA515620384 | PTCHD1 | c.2071C>A (p.Arg691=) | COSMIC COSMIC |
| X | g.23393589C>G | CA412587154 | PTCHD1 | c.2071C>G (p.Arg691Gly) | gnomAD v4 COSMIC COSMIC |
| X | g.23393589C>T | CA412587155 | PTCHD1 | c.2071C>T (p.Arg691Ter) | |
| X | g.23393590G>A | CA412587157 | PTCHD1 | c.2072G>A (p.Arg691Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23393590G>C | CA412587158 | PTCHD1 | c.2072G>C (p.Arg691Pro) | |
| X | g.23393590G= | CA2419640851 | PTCHD1 | c.2072G= (p.Arg691=) | |
| X | g.23393590G>T | CA412587156 | PTCHD1 | c.2072G>T (p.Arg691Leu) | |
| X | g.23393591A>C | CA515620385 | PTCHD1 | c.2073A>C (p.Arg691=) | |
| X | g.23393591A>G | CA515620386 | PTCHD1 | c.2073A>G (p.Arg691=) | |
| X | g.23393591A>T | CA515620387 | PTCHD1 | c.2073A>T (p.Arg691=) | |
| X | g.23393592T>A | CA412587159 | PTCHD1 | c.2074T>A (p.Tyr692Asn) | |
| X | g.23393592T>C | CA412587160 | PTCHD1 | c.2074T>C (p.Tyr692His) | |
| X | g.23393592T>G | CA412587161 | PTCHD1 | c.2074T>G (p.Tyr692Asp) | |
| X | g.23393593A>C | CA412587162 | PTCHD1 | c.2075A>C (p.Tyr692Ser) | |
| X | g.23393593A>G | CA412587163 | PTCHD1 | c.2075A>G (p.Tyr692Cys) | |
| X | g.23393593A>T | CA412587164 | PTCHD1 | c.2075A>T (p.Tyr692Phe) | |
| X | g.23393593dup | CA2739290427 | PTCHD1 | c.2075dup (p.Tyr692Ter) | |
| X | g.23393594T>A | CA412587165 | PTCHD1 | c.2076T>A (p.Tyr692Ter) | |
| X | g.23393594T>C | CA515620388 | PTCHD1 | c.2076T>C (p.Tyr692=) | |
| X | g.23393594T>G | CA412587166 | PTCHD1 | c.2076T>G (p.Tyr692Ter) | |
| X | g.23393595G>A | CA412587167 | PTCHD1 | c.2077G>A (p.Ala693Thr) | |
| X | g.23393595G>C | CA412587168 | PTCHD1 | c.2077G>C (p.Ala693Pro) | |
| X | g.23393595G= | CA2419640853 | PTCHD1 | c.2077G= (p.Ala693=) | |
| X | g.23393595G>T | CA412587169 | PTCHD1 | c.2077G>T (p.Ala693Ser) | dbSNP |
| X | g.23393596C>A | CA412587170 | PTCHD1 | c.2078C>A (p.Ala693Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23393596C= | CA2419640856 | PTCHD1 | c.2078C= (p.Ala693=) | |
| X | g.23393596C>G | CA412587171 | PTCHD1 | c.2078C>G (p.Ala693Gly) | |
| X | g.23393596C>T | CA10369211 | PTCHD1 | c.2078C>T (p.Ala693Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393597C>A | CA515620390 | PTCHD1 | c.2079C>A (p.Ala693=) | |
| X | g.23393597C>G | CA515620391 | PTCHD1 | c.2079C>G (p.Ala693=) | |
| X | g.23393597C>T | CA515620392 | PTCHD1 | c.2079C>T (p.Ala693=) |