Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177992806T>A | CA362378419 | PROP1 | c.584A>T (p.Tyr195Phe) | |
5 | g.177992806T>C | CA362378418 | PROP1 | c.584A>G (p.Tyr195Cys) | gnomAD v4 |
5 | g.177992806T>G | CA362378417 | PROP1 | c.584A>C (p.Tyr195Ser) | |
5 | g.177992807del | CA2573139482 | PROP1 | c.583del (p.Tyr195ThrfsTer?) | ClinVar dbSNP |
5 | g.177992807A>C | CA362378420 | PROP1 | c.583T>G (p.Tyr195Asp) | |
5 | g.177992807A>G | CA362378421 | PROP1 | c.583T>C (p.Tyr195His) | gnomAD v4 |
5 | g.177992807A>T | CA362378422 | PROP1 | c.583T>A (p.Tyr195Asn) | |
5 | g.177992808C>A | CA362378423 | PROP1 | c.582G>T (p.Trp194Cys) | |
5 | g.177992808C= | CA1603813991 | PROP1 | c.582G= (p.Trp194=) | |
5 | g.177992808C>G | CA362378424 | PROP1 | c.582G>C (p.Trp194Cys) | |
5 | g.177992808C>T | CA340739 | PROP1 | c.582G>A (p.Trp194Ter) | ClinVar dbSNP |
5 | g.177992809C>A | CA362378425 | PROP1 | c.581G>T (p.Trp194Leu) | |
5 | g.177992809C>G | CA362378427 | PROP1 | c.581G>C (p.Trp194Ser) | |
5 | g.177992809C>T | CA362378426 | PROP1 | c.581G>A (p.Trp194Ter) | ClinVar gnomAD v4 |
5 | g.177992810A>C | CA362378428 | PROP1 | c.580T>G (p.Trp194Gly) | |
5 | g.177992810A>G | CA362378429 | PROP1 | c.580T>C (p.Trp194Arg) | |
5 | g.177992810A>T | CA362378430 | PROP1 | c.580T>A (p.Trp194Arg) | |
5 | g.177992811G>A | CA448346500 | PROP1 | c.579C>T (p.Asp193=) | |
5 | g.177992811G>C | CA362378431 | PROP1 | c.579C>G (p.Asp193Glu) | gnomAD v4 |
5 | g.177992811G>T | CA362378432 | PROP1 | c.579C>A (p.Asp193Glu) | |
5 | g.177992812T>A | CA362378433 | PROP1 | c.578A>T (p.Asp193Val) | gnomAD v4 |
5 | g.177992812T>C | CA362378434 | PROP1 | c.578A>G (p.Asp193Gly) | |
5 | g.177992812T>G | CA362378435 | PROP1 | c.578A>C (p.Asp193Ala) | |
5 | g.177992812_177992813delinsTC | CA1603813992 | PROP1 | c.577_578delinsGA (p.Asp193=) | |
5 | g.177992813C>A | CA362378436 | PROP1 | c.577G>T (p.Asp193Tyr) | |
5 | g.177992813C= | CA1603813993 | PROP1 | c.577G= (p.Asp193=) | |
5 | g.177992813C>G | CA362378437 | PROP1 | c.577G>C (p.Asp193His) | gnomAD v4 |
5 | g.177992813C>T | CA3587500 | PROP1 | c.577G>A (p.Asp193Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177992814del | CA1084892859 | PROP1 | c.577del (p.Asp193ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992814C>A | CA362378438 | PROP1 | c.576G>T (p.Glu192Asp) | |
5 | g.177992814C= | CA1603813994 | PROP1 | c.576G= (p.Glu192=) | |
5 | g.177992814C>G | CA362378439 | PROP1 | c.576G>C (p.Glu192Asp) | |
5 | g.177992814C>T | CA448346501 | PROP1 | c.576G>A (p.Glu192=) | dbSNP |
5 | g.177992815T>A | CA362378440 | PROP1 | c.575A>T (p.Glu192Val) | gnomAD v4 |
5 | g.177992815T>C | CA362378441 | PROP1 | c.575A>G (p.Glu192Gly) | |
5 | g.177992815T>G | CA362378442 | PROP1 | c.575A>C (p.Glu192Ala) | dbSNP |
5 | g.177992815T= | CA1603813995 | PROP1 | c.575A= (p.Glu192=) | |
5 | g.177992816C>A | CA362378443 | PROP1 | c.574G>T (p.Glu192Ter) | dbSNP |
5 | g.177992816C= | CA1603813996 | PROP1 | c.574G= (p.Glu192=) | |
5 | g.177992816C>G | CA362378444 | PROP1 | c.574G>C (p.Glu192Gln) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992816C>T | CA362378445 | PROP1 | c.574G>A (p.Glu192Lys) | |
5 | g.177992816_177992817del | CA2525272571 | PROP1 | c.573_574del (p.Glu192GlyfsTer28) | |
5 | g.177992817A= | CA1603813997 | PROP1 | c.573T= (p.Ser191=) | |
5 | g.177992817A>C | CA448346502 | PROP1 | c.573T>G (p.Ser191=) | |
5 | g.177992817A>G | CA448346504 | PROP1 | c.573T>C (p.Ser191=) | ClinVar dbSNP |
5 | g.177992817A>T | CA448346503 | PROP1 | c.573T>A (p.Ser191=) | |
5 | g.177992818G>A | CA362378448 | PROP1 | c.572C>T (p.Ser191Phe) | |
5 | g.177992818G>C | CA362378446 | PROP1 | c.572C>G (p.Ser191Cys) | |
5 | g.177992818G>T | CA362378447 | PROP1 | c.572C>A (p.Ser191Tyr) | |
5 | g.177992818dup | CA1084892860 | PROP1 | c.572dup (p.Glu192Ter) | dbSNP gnomAD v3 gnomAD v4 |