| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.23393487_23393490del | CA16043258 | PTCHD1 | c.1969_1972del (p.Asn657GlufsTer11) | ClinVar dbSNP gnomAD v4 |
| X | g.23393487A>C | CA412586898 | PTCHD1 | c.1969A>C (p.Asn657His) | |
| X | g.23393487A>G | CA412586899 | PTCHD1 | c.1969A>G (p.Asn657Asp) | |
| X | g.23393487A>T | CA412586900 | PTCHD1 | c.1969A>T (p.Asn657Tyr) | |
| X | g.23393488A>C | CA412586901 | PTCHD1 | c.1970A>C (p.Asn657Thr) | |
| X | g.23393488A>G | CA412586902 | PTCHD1 | c.1970A>G (p.Asn657Ser) | |
| X | g.23393488A>T | CA412586904 | PTCHD1 | c.1970A>T (p.Asn657Ile) | |
| X | g.23393489C>A | CA412586908 | PTCHD1 | c.1971C>A (p.Asn657Lys) | |
| X | g.23393489C>G | CA412586909 | PTCHD1 | c.1971C>G (p.Asn657Lys) | |
| X | g.23393489C>T | CA515620263 | PTCHD1 | c.1971C>T (p.Asn657=) | |
| X | g.23393490A>C | CA515620265 | PTCHD1 | c.1972A>C (p.Arg658=) | |
| X | g.23393490A>G | CA412586912 | PTCHD1 | c.1972A>G (p.Arg658Gly) | |
| X | g.23393490A>T | CA412586913 | PTCHD1 | c.1972A>T (p.Arg658Ter) | |
| X | g.23393491G>A | CA412586916 | PTCHD1 | c.1973G>A (p.Arg658Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393491G>C | CA412586918 | PTCHD1 | c.1973G>C (p.Arg658Thr) | |
| X | g.23393491G= | CA2419640784 | PTCHD1 | c.1973G= (p.Arg658=) | |
| X | g.23393491G>T | CA412586922 | PTCHD1 | c.1973G>T (p.Arg658Ile) | |
| X | g.23393491_23393494delinsGAGA | CA2419640783 | PTCHD1 | c.1973_1976delinsGAGA (p.Arg658=) | |
| X | g.23393492A>C | CA412586924 | PTCHD1 | c.1974A>C (p.Arg658Ser) | |
| X | g.23393492A>G | CA515620267 | PTCHD1 | c.1974A>G (p.Arg658=) | |
| X | g.23393492A>T | CA412586925 | PTCHD1 | c.1974A>T (p.Arg658Ser) | |
| 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.23393493G>A | CA412586927 | PTCHD1 | c.1975G>A (p.Glu659Lys) | COSMIC COSMIC |
| X | g.23393493G>C | CA412586928 | PTCHD1 | c.1975G>C (p.Glu659Gln) | |
| X | g.23393493G>T | CA412586930 | PTCHD1 | c.1975G>T (p.Glu659Ter) | |
| X | g.23393494A>C | CA412586932 | PTCHD1 | c.1976A>C (p.Glu659Ala) | |
| X | g.23393494A>G | CA412586934 | PTCHD1 | c.1976A>G (p.Glu659Gly) | |
| X | g.23393494A>T | CA412586935 | PTCHD1 | c.1976A>T (p.Glu659Val) | |
| X | g.23393495A>C | CA412586938 | PTCHD1 | c.1977A>C (p.Glu659Asp) | |
| X | g.23393495A>G | CA515620271 | PTCHD1 | c.1977A>G (p.Glu659=) | |
| X | g.23393495A>T | CA412586939 | PTCHD1 | c.1977A>T (p.Glu659Asp) | |
| X | g.23393496G>A | CA412586943 | PTCHD1 | c.1978G>A (p.Glu660Lys) | |
| X | g.23393496G>C | CA412586944 | PTCHD1 | c.1978G>C (p.Glu660Gln) | |
| X | g.23393496G>T | CA412586945 | PTCHD1 | c.1978G>T (p.Glu660Ter) | |
| 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=) |