| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22047150_22048047delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | CA2419152378 | PHEX | n.714_775+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.544+14027_544+14924delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.288_349+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA c.-4_58+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA n.967_1028+836delinsAGATATGCCAAGCTATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGGGTAAGTTTCTACTGGGGTTTGGTGATACACTTTATAGAGAGCAATATTTGACAGGAAAAACATAGTTTGGGATTTGAAGCATGACTTCTCACTTTTTAACTACCATGCTAAATTCATTTCCAAGAATTTTTAAAATGAAAGATTGAAAGGAAAGTTTGCAGAATTCTGGACTCCCAGATCTCAACATAAGACTAATGTAGGTTGTTATGTTCATGTTTGGTAATAGTAAATTCTACTGCCAAAGGATAAAGAGCATTTGATTGAGATTGGAAGCAAAGGAATAGTTAATGAAAATTATATCAATATACTCATTTGTTGTATTCAGAGTAAACTTCATTTCTTGCTCATTGTGTCCTGGATTTTCATGGCTTACAAAATGTACTTAACACCTCATCATCTTTTGACATCACTTTTGAGAACTCTGGATGACCTTGTGGTTGTCATATTGTTCTTGTTAACTTCTAAGTTGGCTCTAGGGAGATTCACTTTTCTCCCATGGCCACTCTAGCAATGACAAGCTCACACACACATACTCACACGTGGATGCATAGAAACATACATATGTTCTCAAATACATTCCCCTGCCCCCCGCCAAAGTTGGAAATGTCTGTTATTGGAGGATATTCTGTTAGCATTGGATCTAATTTTTATGCTAAGCTATTGGAGAAGGCCACCTCAGGAGGGAAGTAGGAAGATTTCAAAGCCAGATAAGGTAATTATTTTGAGAAGGCAAAAATAGTATGGTTTTTTTTTTTGGCTCTTTTTGACAACTGTGAGTTACACCATGTAACTTGCATTCAGTAACACCTACAAAGAACTCCTGAGAAATTATAAAA | |
| X | g.22047151_22048047delinsAAGATATGCCT | CA1139667280 | PHEX | n.715_775+836delinsAAGATATGCCT n.544+14028_544+14924delinsAAGATATGCCT c.289_349+836delinsAAGATATGCCT c.-3_58+836delinsAAGATATGCCT n.968_1028+836delinsAAGATATGCCT | ClinVar dbSNP |
| X | g.22047180G>A | CA260508 | PHEX | n.744G>A n.544+14057G>A c.318G>A (p.Trp106Ter) c.-125G>A (n.-125G>A) c.27G>A (p.Trp9Ter) n.997G>A | ClinVar dbSNP |
| X | g.22047180G>C | CA412567780 | PHEX | n.744G>C n.544+14057G>C c.318G>C (p.Trp106Cys) c.-125G>C (n.-125G>C) c.27G>C (p.Trp9Cys) n.997G>C | |
| X | g.22047180G= | CA2419152391 | PHEX | n.744G= n.544+14057G= c.318G= (p.Trp106=) c.-125G= (n.-125G=) c.27G= (p.Trp9=) n.997G= | |
| X | g.22047180G>T | CA412567781 | PHEX | n.744G>T n.544+14057G>T c.318G>T (p.Trp106Cys) c.-125G>T (n.-125G>T) c.27G>T (p.Trp9Cys) n.997G>T | |
| X | g.22047181C>A | CA412567782 | PHEX | n.745C>A n.544+14058C>A c.319C>A (p.Leu107Met) c.-124C>A (n.-124C>A) c.28C>A (p.Leu10Met) n.998C>A | |
| X | g.22047181C= | CA2419152392 | PHEX | n.745C= n.544+14058C= c.319C= (p.Leu107=) c.-124C= (n.-124C=) c.28C= (p.Leu10=) n.998C= | |
| X | g.22047181C>G | CA412567783 | PHEX | n.745C>G n.544+14058C>G c.319C>G (p.Leu107Val) c.-124C>G (n.-124C>G) c.28C>G (p.Leu10Val) n.998C>G | |
| X | g.22047181C>T | CA515424520 | PHEX | n.745C>T n.544+14058C>T c.319C>T (p.Leu107=) c.-124C>T (n.-124C>T) c.28C>T (p.Leu10=) n.998C>T | dbSNP |
| X | g.22047182T>A | CA412567786 | PHEX | n.746T>A n.544+14059T>A c.320T>A (p.Leu107Gln) c.-123T>A (n.-123T>A) c.29T>A (p.Leu10Gln) n.999T>A | |
| X | g.22047182T>C | CA412567785 | PHEX | n.746T>C n.544+14059T>C c.320T>C (p.Leu107Pro) c.-123T>C (n.-123T>C) c.29T>C (p.Leu10Pro) n.999T>C | |
| X | g.22047182T>G | CA412567784 | PHEX | n.746T>G n.544+14059T>G c.320T>G (p.Leu107Arg) c.-123T>G (n.-123T>G) c.29T>G (p.Leu10Arg) n.999T>G | |
| X | g.22047183G>A | CA515424995 | PHEX | n.747G>A n.544+14060G>A c.321G>A (p.Leu107=) c.-122G>A (n.-122G>A) c.30G>A (p.Leu10=) n.1000G>A | |
| X | g.22047183G>C | CA515424997 | PHEX | n.747G>C n.544+14060G>C c.321G>C (p.Leu107=) c.-122G>C (n.-122G>C) c.30G>C (p.Leu10=) n.1000G>C | |
| X | g.22047183G>T | CA515424999 | PHEX | n.747G>T n.544+14060G>T c.321G>T (p.Leu107=) c.-122G>T (n.-122G>T) c.30G>T (p.Leu10=) n.1000G>T | |
| X | g.22047184A>C | CA515425002 | PHEX | n.748A>C n.544+14061A>C c.322A>C (p.Arg108=) c.-121A>C (n.-121A>C) c.31A>C (p.Arg11=) n.1001A>C | |
| X | g.22047184A>G | CA412568050 | PHEX | n.748A>G n.544+14061A>G c.322A>G (p.Arg108Gly) c.-121A>G (n.-121A>G) c.31A>G (p.Arg11Gly) n.1001A>G | gnomAD v4 |
| X | g.22047184A>T | CA412568051 | PHEX | n.748A>T n.544+14061A>T c.322A>T (p.Arg108Ter) c.-121A>T (n.-121A>T) c.31A>T (p.Arg11Ter) n.1001A>T | |
| X | g.22047185G>A | CA412568052 | PHEX | n.749G>A n.544+14062G>A c.323G>A (p.Arg108Lys) c.-120G>A (n.-120G>A) c.32G>A (p.Arg11Lys) n.1002G>A | |
| X | g.22047185G>C | CA412568053 | PHEX | n.749G>C n.544+14062G>C c.323G>C (p.Arg108Thr) c.-120G>C (n.-120G>C) c.32G>C (p.Arg11Thr) n.1002G>C | |
| X | g.22047185G>T | CA412568054 | PHEX | n.749G>T n.544+14062G>T c.323G>T (p.Arg108Ile) c.-120G>T (n.-120G>T) c.32G>T (p.Arg11Ile) n.1002G>T | |
| X | g.22047186A= | CA2419152393 | PHEX | n.750A= n.544+14063A= c.324A= (p.Arg108=) c.-119A= (n.-119A=) c.33A= (p.Arg11=) n.1003A= | |
| X | g.22047186A>C | CA412568055 | PHEX | n.750A>C n.544+14063A>C c.324A>C (p.Arg108Ser) c.-119A>C (n.-119A>C) c.33A>C (p.Arg11Ser) n.1003A>C | |
| X | g.22047186A>G | CA10368015 | PHEX | n.750A>G n.544+14063A>G c.324A>G (p.Arg108=) c.-119A>G (n.-119A>G) c.33A>G (p.Arg11=) n.1003A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22047186A>T | CA412568056 | PHEX | n.750A>T n.544+14063A>T c.324A>T (p.Arg108Ser) c.-119A>T (n.-119A>T) c.33A>T (p.Arg11Ser) n.1003A>T | |
| X | g.22047187_22047188dup | CA2695231446 | PHEX | n.751_752dup n.544+14064_544+14065dup c.325_326dup (p.Asn110IlefsTer7) c.-118_-117dup (n.-118_-117dup) c.34_35dup (p.Asn13IlefsTer7) n.1004_1005dup | |
| X | g.22047187C>A | CA412568057 | PHEX | n.751C>A n.544+14064C>A c.325C>A (p.His109Asn) c.-118C>A (n.-118C>A) c.34C>A (p.His12Asn) n.1004C>A | |
| X | g.22047187C= | CA2419152394 | PHEX | n.751C= n.544+14064C= c.325C= (p.His109=) c.-118C= (n.-118C=) c.34C= (p.His12=) n.1004C= | |
| X | g.22047187C>G | CA412568058 | PHEX | n.751C>G n.544+14064C>G c.325C>G (p.His109Asp) c.-118C>G (n.-118C>G) c.34C>G (p.His12Asp) n.1004C>G | dbSNP |
| X | g.22047187C>T | CA327518452 | PHEX | n.751C>T n.544+14064C>T c.325C>T (p.His109Tyr) c.-118C>T (n.-118C>T) c.34C>T (p.His12Tyr) n.1004C>T | dbSNP gnomAD v4 |
| X | g.22047188A>C | CA412568062 | PHEX | n.752A>C n.544+14065A>C c.326A>C (p.His109Pro) c.-117A>C (n.-117A>C) c.35A>C (p.His12Pro) n.1005A>C | |
| X | g.22047188A>G | CA412568060 | PHEX | n.752A>G n.544+14065A>G c.326A>G (p.His109Arg) c.-117A>G (n.-117A>G) c.35A>G (p.His12Arg) n.1005A>G | gnomAD v4 |
| X | g.22047188A>T | CA412568059 | PHEX | n.752A>T n.544+14065A>T c.326A>T (p.His109Leu) c.-117A>T (n.-117A>T) c.35A>T (p.His12Leu) n.1005A>T | |
| X | g.22047190_22047192del | CA2580100474 | PHEX | n.754_756del n.544+14067_544+14069del c.328_330del (p.Asn110del) c.-115_-113del (n.-115_-113del) c.37_39del (p.Asn13del) n.1007_1009del | ClinVar |
| X | g.22047189del | CA2695231447 | PHEX | n.753del n.544+14066del c.327del (p.His109GlnfsTer7) c.-116del (n.-116del) c.36del (p.His12GlnfsTer7) n.1006del | |
| X | g.22047189T>A | CA412568064 | PHEX | n.753T>A n.544+14066T>A c.327T>A (p.His109Gln) c.-116T>A (n.-116T>A) c.36T>A (p.His12Gln) n.1006T>A | |
| X | g.22047189T>C | CA515425022 | PHEX | n.753T>C n.544+14066T>C c.327T>C (p.His109=) c.-116T>C (n.-116T>C) c.36T>C (p.His12=) n.1006T>C | |
| X | g.22047189T>G | CA412568066 | PHEX | n.753T>G n.544+14066T>G c.327T>G (p.His109Gln) c.-116T>G (n.-116T>G) c.36T>G (p.His12Gln) n.1006T>G | |
| X | g.22047190A>C | CA412568068 | PHEX | n.754A>C n.544+14067A>C c.328A>C (p.Asn110His) c.-115A>C (n.-115A>C) c.37A>C (p.Asn13His) n.1007A>C | |
| X | g.22047190A>G | CA412568070 | PHEX | n.754A>G n.544+14067A>G c.328A>G (p.Asn110Asp) c.-115A>G (n.-115A>G) c.37A>G (p.Asn13Asp) n.1007A>G | |
| X | g.22047190A>T | CA412568072 | PHEX | n.754A>T n.544+14067A>T c.328A>T (p.Asn110Tyr) c.-115A>T (n.-115A>T) c.37A>T (p.Asn13Tyr) n.1007A>T | |
| X | g.22047191dup | CA2740092060 | PHEX | n.755dup n.544+14068dup c.329dup (p.Asn110LysfsTer3) c.-114dup (n.-114dup) c.38dup (p.Asn13LysfsTer3) n.1008dup | |
| X | g.22047191A>C | CA412568074 | PHEX | n.755A>C n.544+14068A>C c.329A>C (p.Asn110Thr) c.-114A>C (n.-114A>C) c.38A>C (p.Asn13Thr) n.1008A>C | |
| X | g.22047191A>G | CA412568076 | PHEX | n.755A>G n.544+14068A>G c.329A>G (p.Asn110Ser) c.-114A>G (n.-114A>G) c.38A>G (p.Asn13Ser) n.1008A>G | gnomAD v4 |
| X | g.22047191A>T | CA412568078 | PHEX | n.755A>T n.544+14068A>T c.329A>T (p.Asn110Ile) c.-114A>T (n.-114A>T) c.38A>T (p.Asn13Ile) n.1008A>T | |
| X | g.22047191_22047194delinsATGT | CA2419152395 | PHEX | n.755_758delinsATGT n.544+14068_544+14071delinsATGT c.329_332delinsATGT (p.Asn110=) c.-114_-111delinsATGT (n.-114_-111delinsATGT) c.38_41delinsATGT (p.Asn13=) n.1008_1011delinsATGT | |
| X | g.22047192T>A | CA412568080 | PHEX | n.756T>A n.544+14069T>A c.330T>A (p.Asn110Lys) c.-113T>A (n.-113T>A) c.39T>A (p.Asn13Lys) n.1009T>A | |
| X | g.22047192T>C | CA515425032 | PHEX | n.756T>C n.544+14069T>C c.330T>C (p.Asn110=) c.-113T>C (n.-113T>C) c.39T>C (p.Asn13=) n.1009T>C | gnomAD v4 |
| X | g.22047192T>G | CA412568082 | PHEX | n.756T>G n.544+14069T>G c.330T>G (p.Asn110Lys) c.-113T>G (n.-113T>G) c.39T>G (p.Asn13Lys) n.1009T>G |