Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_009728 | Disease | p.ALA573ASP | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004686 | Polymorphism | p.ALA645ASP | N/A |
Swiss-Prot | VAR_009799 | Disease | p.ALA748ASP | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009840 | Disease | p.ALA870GLY | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009742 | Polymorphism | p.ALA587SER | N/A |
Swiss-Prot | VAR_009743 | Disease | p.ALA596THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009784 | Polymorphism | p.ALA721THR | N/A |
Swiss-Prot | VAR_009800 | Polymorphism | p.ALA748THR | N/A |
Swiss-Prot | VAR_004707 | Disease | p.ALA765THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009851 | Polymorphism | p.ALA896THR | N/A |
Swiss-Prot | VAR_009741 | Polymorphism | p.ALA586VAL | N/A |
Swiss-Prot | VAR_009768 | Disease | p.ALA687VAL | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009801 | Polymorphism | p.ALA748VAL | N/A |
Swiss-Prot | VAR_009814 | Disease | p.ALA765VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009841 | Disease | p.ALA870VAL | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004709 | Disease | p.ARG774CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004721 | Disease | p.ARG840CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004725 | Disease | p.ARG855CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004684 | Disease | p.ARG607GLN | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009757 | Polymorphism | p.ARG629GLN | N/A |
Swiss-Prot | VAR_004702 | Disease | p.ARG752GLN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004720 | Disease | p.ARG831GLN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004722 | Disease | p.ARG840GLY | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009834 | Polymorphism | p.ARG846GLY | N/A |
Swiss-Prot | VAR_009842 | Disease | p.ARG871GLY | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009751 | Disease | p.ARG615HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004708 | Disease | p.ARG774HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004723 | Disease | p.ARG840HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004726 | Disease | p.ARG855HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009789 | Polymorphism | p.ARG726LEU | N/A |
Swiss-Prot | VAR_004719 | Disease | p.ARG831LEU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009740 | Disease | p.ARG585LYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004685 | Disease | p.ARG608LYS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009835 | Disease | p.ARG854LYS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009752 | Disease | p.ARG615PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009755 | Disease | p.ARG617PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009822 | Disease | p.ARG788SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009229 | Disease | p.ARG840SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009779 | Disease | p.ARG710THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004710 | Disease | p.ARG779TRP | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009818 | Disease | p.ASN771HIS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009790 | Disease | p.ASN727LYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009776 | Disease | p.ASN705SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009807 | Disease | p.ASN756SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009748 | Disease | p.ASN610THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009809 | Disease | p.ASN758THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_013475 | Disease | p.ASN705TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004691 | Disease | p.ASP695ASN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004696 | Disease | p.ASP732ASN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004727 | Disease | p.ASP864ASN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009849 | Polymorphism | p.ASP890ASN | N/A |
Swiss-Prot | VAR_009816 | Disease | p.ASP767GLU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009720 | Polymorphism | p.ASP528GLY | N/A |
Swiss-Prot | VAR_009838 | Disease | p.ASP864GLY | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004690 | Disease | p.ASP695HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009747 | Disease | p.ASP604TYR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004697 | Disease | p.ASP732TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_013480 | Disease | p.ASP879TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004692 | Disease | p.ASP695VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009732 | Disease | p.CYS576ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009767 | Disease | p.CYS686ARG | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009731 | Disease | p.CYS576PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009733 | Disease | p.CYS579PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009746 | Disease | p.CYS601PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009723 | Disease | p.CYS559TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009734 | Disease | p.CYS579TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009749 | Disease | p.CYS611TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009756 | Polymorphism | p.CYS619TYR | N/A |
Swiss-Prot | VAR_004712 | Disease | p.CYS784TYR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009826 | Disease | p.CYS806TYR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009224 | Disease | p.GLN194ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009228 | Disease | p.GLN443ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009711 | Polymorphism | p.GLN64ARG | N/A |
Swiss-Prot | VAR_009761 | Polymorphism | p.GLN670ARG | N/A |
Swiss-Prot | VAR_009853 | Polymorphism | p.GLN902ARG | N/A |
Swiss-Prot | VAR_009863 | Polymorphism | p.GLN919ARG | N/A |
Swiss-Prot | VAR_013476 | Disease | p.GLN711GLU | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004715 | Disease | p.GLN798GLU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009712 | Polymorphism | p.GLN112HIS | N/A |
Swiss-Prot | VAR_009792 | Disease | p.GLN733HIS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009819 | Disease | p.GLU772ALA | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009825 | Polymorphism | p.GLU793ASP | N/A |
Swiss-Prot | VAR_009820 | Disease | p.GLU772GLY | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004679 | Disease | p.GLU2LYS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009764 | Disease | p.GLU681LYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009765 | Polymorphism | p.GLY683ALA | N/A |
Swiss-Prot | VAR_009777 | Disease | p.GLY708ALA | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009829 | Disease | p.GLY820ALA | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009715 | Disease | p.GLY214ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009858 | Disease | p.GLY909ARG | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009787 | Disease | p.GLY724ASP | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004701 | Disease | p.GLY750ASP | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009769 | Disease | p.GLY688GLU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_013477 | Disease | p.GLY743GLU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009857 | Polymorphism | p.GLY909GLU | N/A |
Swiss-Prot | VAR_009719 | Disease | p.GLY491SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009803 | Polymorphism | p.GLY750SER | N/A |
Swiss-Prot | VAR_009726 | Disease | p.GLY568TRP | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009725 | Polymorphism | p.GLY568VAL | N/A |
Swiss-Prot | VAR_009778 | Disease | p.GLY708VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004699 | Disease | p.GLY743VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_013479 | Disease | p.HIS874ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009862 | Disease | p.HIS917ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009843 | Polymorphism | p.HIS874TYR | N/A |
Swiss-Prot | VAR_004687 | Disease | p.ILE664ASN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004731 | Disease | p.ILE869MET | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009833 | Disease | p.ILE841SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009763 | Polymorphism | p.ILE672THR | N/A |
Swiss-Prot | VAR_009793 | Disease | p.ILE737THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004724 | Disease | p.ILE842THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009852 | Disease | p.ILE898THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009754 | Disease | p.LEU616ARG | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004694 | Disease | p.LEU707ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009837 | Disease | p.LEU863ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004681 | Polymorphism | p.LEU57GLN | N/A |
Swiss-Prot | VAR_009845 | Polymorphism | p.LEU880GLN | N/A |
Swiss-Prot | VAR_009773 | Disease | p.LEU701HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009771 | Disease | p.LEU700MET | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009721 | Disease | p.LEU547PHE | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009772 | Disease | p.LEU701PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009780 | Disease | p.LEU712PHE | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009785 | Disease | p.LEU722PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009796 | Disease | p.LEU744PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004704 | Disease | p.LEU762PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009823 | Disease | p.LEU790PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009828 | Disease | p.LEU812PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004735 | Disease | p.LEU907PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009225 | Disease | p.LEU255PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009729 | Polymorphism | p.LEU574PRO | N/A |
Swiss-Prot | VAR_009753 | Disease | p.LEU616PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004688 | Disease | p.LEU677PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009817 | Disease | p.LEU768PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009831 | Polymorphism | p.LEU830PRO | N/A |
Swiss-Prot | VAR_004680 | Polymorphism | p.LEU54SER | N/A |
Swiss-Prot | VAR_009791 | Disease | p.LEU728SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009830 | Disease | p.LEU821VAL | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009846 | Disease | p.LEU881VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009713 | Polymorphism | p.LYS180ARG | N/A |
Swiss-Prot | VAR_009735 | Polymorphism | p.LYS580ARG | N/A |
Swiss-Prot | VAR_009859 | Polymorphism | p.LYS910ARG | N/A |
Swiss-Prot | VAR_009782 | Polymorphism | p.LYS717GLU | N/A |
Swiss-Prot | VAR_009783 | Polymorphism | p.LYS720GLU | N/A |
Swiss-Prot | VAR_009758 | Polymorphism | p.LYS630THR | N/A |
Swiss-Prot | VAR_004716 | Disease | p.MET807ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004698 | Disease | p.MET742ILE | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009802 | Polymorphism | p.MET749ILE | N/A |
Swiss-Prot | VAR_004711 | Disease | p.MET780ILE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009716 | Polymorphism | p.MET266THR | N/A |
Swiss-Prot | VAR_009797 | Disease | p.MET745THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009827 | Disease | p.MET807THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004734 | Disease | p.MET895THR | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009795 | Disease | p.MET742VAL | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004700 | Disease | p.MET749VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004713 | Disease | p.MET787VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004717 | Disease | p.MET807VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009847 | Disease | p.MET886VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009788 | Polymorphism | p.PHE725LEU | N/A |
Swiss-Prot | VAR_009805 | Disease | p.PHE754LEU | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009813 | Disease | p.PHE764LEU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009836 | Disease | p.PHE856LEU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009850 | Polymorphism | p.PHE891LEU | N/A |
Swiss-Prot | VAR_009861 | Disease | p.PHE916LEU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009737 | Disease | p.PHE582SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004714 | Disease | p.PHE794SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009738 | Disease | p.PHE582TYR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004703 | Disease | p.PHE754VAL | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_013478 | Disease | p.PHE827VAL | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009226 | Disease | p.PRO390ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009762 | Disease | p.PRO671HIS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009855 | Disease | p.PRO904HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009718 | Polymorphism | p.PRO340LEU | N/A |
Swiss-Prot | VAR_004733 | Disease | p.PRO892LEU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009717 | Polymorphism | p.PRO269SER | N/A |
Swiss-Prot | VAR_009227 | Disease | p.PRO390SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009722 | Disease | p.PRO548SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009786 | Disease | p.PRO723SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009815 | Disease | p.PRO766SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009856 | Disease | p.PRO904SER | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004736 | Disease | p.PRO913SER | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_013474 | Disease | p.PRO682THR | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009774 | Disease | p.SER702ALA | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009714 | Polymorphism | p.SER205ARG | N/A |
Swiss-Prot | VAR_009760 | Polymorphism | p.SER647ASN | N/A |
Swiss-Prot | VAR_009821 | Polymorphism | p.SER782ASN | N/A |
Swiss-Prot | VAR_004718 | Disease | p.SER814ASN | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009775 | Disease | p.SER703CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009744 | Disease | p.SER597GLY | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004693 | Disease | p.SER703GLY | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009810 | Disease | p.SER759PHE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009811 | Polymorphism | p.SER759PRO | N/A |
Swiss-Prot | VAR_009824 | Polymorphism | p.SER791PRO | N/A |
Swiss-Prot | VAR_009839 | Disease | p.SER865PRO | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009745 | Polymorphism | p.SER597THR | N/A |
Swiss-Prot | VAR_009730 | Polymorphism | p.THR575ALA | N/A |
Swiss-Prot | VAR_009806 | Polymorphism | p.THR755ALA | N/A |
Swiss-Prot | VAR_004732 | Polymorphism | p.THR877ALA | N/A |
Swiss-Prot | VAR_009844 | Polymorphism | p.THR877SER | N/A |
Swiss-Prot | VAR_009794 | Disease | p.TRP741ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009804 | Disease | p.TRP751ARG | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009727 | Disease | p.TYR571CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004705 | Disease | p.TYR763CYS | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009832 | Disease | p.TYR834CYS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009812 | Disease | p.TYR763HIS | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009808 | Polymorphism | p.VAL757ALA | N/A |
Swiss-Prot | VAR_004728 | Disease | p.VAL866GLU | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009766 | Disease | p.VAL684ILE | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_004729 | Disease | p.VAL866LEU | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009860 | Disease | p.VAL911LEU | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009781 | Polymorphism | p.VAL715MET | N/A |
Swiss-Prot | VAR_004695 | Polymorphism | p.VAL730MET | N/A |
Swiss-Prot | VAR_009798 | Disease | p.VAL746MET | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_004730 | Disease | p.VAL866MET | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009848 | Disease | p.VAL889MET | Androgen insensitivity syndrome (AIS) |
Swiss-Prot | VAR_009854 | Disease | p.VAL903MET | Androgen insensitivity, partial (PAIS) |
Swiss-Prot | VAR_009736 | Disease | p.VAL581PHE | Androgen insensitivity syndrome (AIS) |