| 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.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.22047194_22047196del | CA16621307 | PHEX | n.758_760del n.544+14071_544+14073del c.332_334del (p.Val111del) c.-111_-109del (n.-111_-109del) c.41_43del (p.Val14del) n.1011_1013del | ClinVar dbSNP |
| X | g.22047194T>A | CA412568091 | PHEX | n.758T>A n.544+14071T>A c.332T>A (p.Val111Asp) c.-111T>A (n.-111T>A) c.41T>A (p.Val14Asp) n.1011T>A | |
| X | g.22047194T>C | CA412568094 | PHEX | n.758T>C n.544+14071T>C c.332T>C (p.Val111Ala) c.-111T>C (n.-111T>C) c.41T>C (p.Val14Ala) n.1011T>C | gnomAD v4 |
| X | g.22047194T>G | CA412568092 | PHEX | n.758T>G n.544+14071T>G c.332T>G (p.Val111Gly) c.-111T>G (n.-111T>G) c.41T>G (p.Val14Gly) n.1011T>G | |
| X | g.22047195T>A | CA515425044 | PHEX | n.759T>A n.544+14072T>A c.333T>A (p.Val111=) c.-110T>A (n.-110T>A) c.42T>A (p.Val14=) n.1012T>A | |
| X | g.22047195T>C | CA515425046 | PHEX | n.759T>C n.544+14072T>C c.333T>C (p.Val111=) c.-110T>C (n.-110T>C) c.42T>C (p.Val14=) n.1012T>C | |
| X | g.22047195T>G | CA515425048 | PHEX | n.759T>G n.544+14072T>G c.333T>G (p.Val111=) c.-110T>G (n.-110T>G) c.42T>G (p.Val14=) n.1012T>G | |
| X | g.22047196G>A | CA412568096 | PHEX | n.760G>A n.544+14073G>A c.334G>A (p.Asp112Asn) c.-109G>A (n.-109G>A) c.43G>A (p.Asp15Asn) n.1013G>A | |
| X | g.22047196G>C | CA412568098 | PHEX | n.760G>C n.544+14073G>C c.334G>C (p.Asp112His) c.-109G>C (n.-109G>C) c.43G>C (p.Asp15His) n.1013G>C | gnomAD v4 |
| X | g.22047196G>T | CA412568100 | PHEX | n.760G>T n.544+14073G>T c.334G>T (p.Asp112Tyr) c.-109G>T (n.-109G>T) c.43G>T (p.Asp15Tyr) n.1013G>T | |
| X | g.22047197A>C | CA412568102 | PHEX | n.761A>C n.544+14074A>C c.335A>C (p.Asp112Ala) c.-108A>C (n.-108A>C) c.44A>C (p.Asp15Ala) n.1014A>C | |
| X | g.22047197A>G | CA412568104 | PHEX | n.761A>G n.544+14074A>G c.335A>G (p.Asp112Gly) c.-108A>G (n.-108A>G) c.44A>G (p.Asp15Gly) n.1014A>G | |
| X | g.22047197A>T | CA412568106 | PHEX | n.761A>T n.544+14074A>T c.335A>T (p.Asp112Val) c.-108A>T (n.-108A>T) c.44A>T (p.Asp15Val) n.1014A>T | |
| X | g.22047198C>A | CA412568108 | PHEX | n.762C>A n.544+14075C>A c.336C>A (p.Asp112Glu) c.-107C>A (n.-107C>A) c.45C>A (p.Asp15Glu) n.1015C>A | |
| X | g.22047198C>G | CA412568110 | PHEX | n.762C>G n.544+14075C>G c.336C>G (p.Asp112Glu) c.-107C>G (n.-107C>G) c.45C>G (p.Asp15Glu) n.1015C>G | |
| X | g.22047198C>T | CA515425058 | PHEX | n.762C>T n.544+14075C>T c.336C>T (p.Asp112=) c.-107C>T (n.-107C>T) c.45C>T (p.Asp15=) n.1015C>T | gnomAD v4 |
| X | g.22047199C>A | CA412568112 | PHEX | n.763C>A n.544+14076C>A c.337C>A (p.Leu113Ile) c.-106C>A (n.-106C>A) c.46C>A (p.Leu16Ile) n.1016C>A | |
| X | g.22047199C>G | CA412568115 | PHEX | n.763C>G n.544+14076C>G c.337C>G (p.Leu113Val) c.-106C>G (n.-106C>G) c.46C>G (p.Leu16Val) n.1016C>G | |
| X | g.22047199C>T | CA412568117 | PHEX | n.763C>T n.544+14076C>T c.337C>T (p.Leu113Phe) c.-106C>T (n.-106C>T) c.46C>T (p.Leu16Phe) n.1016C>T | |
| X | g.22047200T>A | CA412568121 | PHEX | n.764T>A n.544+14077T>A c.338T>A (p.Leu113His) c.-105T>A (n.-105T>A) c.47T>A (p.Leu16His) n.1017T>A | |
| X | g.22047200T>C | CA412568123 | PHEX | n.764T>C n.544+14077T>C c.338T>C (p.Leu113Pro) c.-105T>C (n.-105T>C) c.47T>C (p.Leu16Pro) n.1017T>C | |
| X | g.22047200T>G | CA412568119 | PHEX | n.764T>G n.544+14077T>G c.338T>G (p.Leu113Arg) c.-105T>G (n.-105T>G) c.47T>G (p.Leu16Arg) n.1017T>G | |
| X | g.22047201C>A | CA515425067 | PHEX | n.765C>A n.544+14078C>A c.339C>A (p.Leu113=) c.-104C>A (n.-104C>A) c.48C>A (p.Leu16=) n.1018C>A | |
| X | g.22047201C>G | CA515425069 | PHEX | n.765C>G n.544+14078C>G c.339C>G (p.Leu113=) c.-104C>G (n.-104C>G) c.48C>G (p.Leu16=) n.1018C>G | |
| X | g.22047201C>T | CA515425072 | PHEX | n.765C>T n.544+14078C>T c.339C>T (p.Leu113=) c.-104C>T (n.-104C>T) c.48C>T (p.Leu16=) n.1018C>T | |
| X | g.22047202A>C | CA412568127 | PHEX | n.766A>C n.544+14079A>C c.340A>C (p.Lys114Gln) c.-103A>C (n.-103A>C) c.49A>C (p.Lys17Gln) n.1019A>C | gnomAD v4 |
| X | g.22047202A>G | CA412568125 | PHEX | n.766A>G n.544+14079A>G c.340A>G (p.Lys114Glu) c.-103A>G (n.-103A>G) c.49A>G (p.Lys17Glu) n.1019A>G | |
| X | g.22047202A>T | CA412568129 | PHEX | n.766A>T n.544+14079A>T c.340A>T (p.Lys114Ter) c.-103A>T (n.-103A>T) c.49A>T (p.Lys17Ter) n.1019A>T | |
| X | g.22047203A>C | CA412568131 | PHEX | n.767A>C n.544+14080A>C c.341A>C (p.Lys114Thr) c.-102A>C (n.-102A>C) c.50A>C (p.Lys17Thr) n.1020A>C | |
| X | g.22047203A>G | CA412568134 | PHEX | n.767A>G n.544+14080A>G c.341A>G (p.Lys114Arg) c.-102A>G (n.-102A>G) c.50A>G (p.Lys17Arg) n.1020A>G | |
| X | g.22047203A>T | CA412568135 | PHEX | n.767A>T n.544+14080A>T c.341A>T (p.Lys114Met) c.-102A>T (n.-102A>T) c.50A>T (p.Lys17Met) n.1020A>T | |
| X | g.22047204G>A | CA10368016 | PHEX | n.768G>A n.544+14081G>A c.342G>A (p.Lys114=) c.-101G>A (n.-101G>A) c.51G>A (p.Lys17=) n.1021G>A | dbSNP ExAC |
| X | g.22047204G>C | CA412568138 | PHEX | n.768G>C n.544+14081G>C c.342G>C (p.Lys114Asn) c.-101G>C (n.-101G>C) c.51G>C (p.Lys17Asn) n.1021G>C | |
| X | g.22047204G= | CA2419152396 | PHEX | n.768G= n.544+14081G= c.342G= (p.Lys114=) c.-101G= (n.-101G=) c.51G= (p.Lys17=) n.1021G= | |
| X | g.22047204G>T | CA412568141 | PHEX | n.768G>T n.544+14081G>T c.342G>T (p.Lys114Asn) c.-101G>T (n.-101G>T) c.51G>T (p.Lys17Asn) n.1021G>T | |
| X | g.22047205T>A | CA412568143 | PHEX | n.769T>A n.544+14082T>A c.343T>A (p.Leu115Met) c.-100T>A (n.-100T>A) c.52T>A (p.Leu18Met) n.1022T>A | |
| X | g.22047205T>C | CA515425095 | PHEX | n.769T>C n.544+14082T>C c.343T>C (p.Leu115=) c.-100T>C (n.-100T>C) c.52T>C (p.Leu18=) n.1022T>C | dbSNP |
| X | g.22047205T>G | CA412568145 | PHEX | n.769T>G n.544+14082T>G c.343T>G (p.Leu115Val) c.-100T>G (n.-100T>G) c.52T>G (p.Leu18Val) n.1022T>G | |
| X | g.22047205T= | CA2419152397 | PHEX | n.769T= n.544+14082T= c.343T= (p.Leu115=) c.-100T= (n.-100T=) c.52T= (p.Leu18=) n.1022T= | |
| X | g.22047206T>A | CA412568147 | PHEX | n.770T>A n.544+14083T>A c.344T>A (p.Leu115Ter) c.-99T>A (n.-99T>A) c.53T>A (p.Leu18Ter) n.1023T>A | |
| X | g.22047206T>C | CA412568149 | PHEX | n.770T>C n.544+14083T>C c.344T>C (p.Leu115Ser) c.-99T>C (n.-99T>C) c.53T>C (p.Leu18Ser) n.1023T>C | |
| X | g.22047206T>G | CA412568151 | PHEX | n.770T>G n.544+14083T>G c.344T>G (p.Leu115Trp) c.-99T>G (n.-99T>G) c.53T>G (p.Leu18Trp) n.1023T>G | |
| X | g.22047207G>A | CA515425102 | PHEX | n.771G>A n.544+14084G>A c.345G>A (p.Leu115=) c.-98G>A (n.-98G>A) c.54G>A (p.Leu18=) n.1024G>A | |
| X | g.22047207G>C | CA412568153 | PHEX | n.771G>C n.544+14084G>C c.345G>C (p.Leu115Phe) c.-98G>C (n.-98G>C) c.54G>C (p.Leu18Phe) n.1024G>C | gnomAD v4 |
| X | g.22047207G>T | CA412568155 | PHEX | n.771G>T n.544+14084G>T c.345G>T (p.Leu115Phe) c.-98G>T (n.-98G>T) c.54G>T (p.Leu18Phe) n.1024G>T | |
| X | g.22047208A>C | CA412568161 | PHEX | n.772A>C n.544+14085A>C c.346A>C (p.Lys116Gln) c.-97A>C (n.-97A>C) c.55A>C (p.Lys19Gln) n.1025A>C | |
| X | g.22047208A>G | CA412568157 | PHEX | n.772A>G n.544+14085A>G c.346A>G (p.Lys116Glu) c.-97A>G (n.-97A>G) c.55A>G (p.Lys19Glu) n.1025A>G |