Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177992802A>C | CA448346496 | PROP1 | c.588T>G (p.Pro196=) | |
5 | g.177992802A>G | CA448346497 | PROP1 | c.588T>C (p.Pro196=) | |
5 | g.177992802A>T | CA448346498 | PROP1 | c.588T>A (p.Pro196=) | |
5 | g.177992803G>A | CA362378410 | PROP1 | c.587C>T (p.Pro196Leu) | gnomAD v4 |
5 | g.177992803G>C | CA362378409 | PROP1 | c.587C>G (p.Pro196Arg) | |
5 | g.177992803G>T | CA362378411 | PROP1 | c.587C>A (p.Pro196His) | |
5 | g.177992804G>A | CA362378412 | PROP1 | c.586C>T (p.Pro196Ser) | |
5 | g.177992804G>C | CA362378413 | PROP1 | c.586C>G (p.Pro196Ala) | |
5 | g.177992804G>T | CA362378414 | PROP1 | c.586C>A (p.Pro196Thr) | |
5 | g.177992805G>A | CA448346499 | PROP1 | c.585C>T (p.Tyr195=) | gnomAD v4 |
5 | g.177992805G>C | CA362378415 | PROP1 | c.585C>G (p.Tyr195Ter) | |
5 | g.177992805G>T | CA362378416 | PROP1 | c.585C>A (p.Tyr195Ter) | |
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 |