BMP receptor type-2 sequence variant R491W (human)
anti-Muellerian hormone type-2 receptor sequence variant R504C (human)
presenilin-1 sequence variant R269G (human)
TGF-beta receptor type-2 sequence variant V447A (human)
triggering receptor expressed on myeloid cells 2 sequence variant K186N (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human)
microtubule-associated protein tau sequence variant S305N (human)
cartilage oligomeric matrix protein sequence variant D473G (human)
presenilin-1 sequence variant P267S (human)
presenilin-1 sequence variant S390I (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant P163L (human)
microtubule-associated protein tau sequence variant G389R (human)
cartilage oligomeric matrix protein sequence variant D439V (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant Y184S (human)
presenilin-1 sequence variant A409T (human)
microtubule-associated protein tau sequence variant S352L (human)
microtubule-associated protein tau sequence variant L266V (human)
microtubule-associated protein tau sequence variant N296H (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
BMP receptor type-2 sequence variant R491Q (human)
presenilin-1 sequence variant S169P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R366Q (human)
TGF-beta receptor type-1 sequence variant R487P (human)
presenilin-1 sequence variant G206S (human)
amyloid-beta precursor protein sequence variant T714I (human)
cartilage oligomeric matrix protein sequence variant D361V (human)
cartilage oligomeric matrix protein sequence variant 32 (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A194P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R174C (human)
voltage-gated potassium channel KCNV2 sequence variant 4 (human)
presenilin-1 sequence variant N135D (human)
cyclic nucleotide-gated cation channel beta-3 sequence variant S435F (human)
amyloid-beta precursor protein sequence variant E693G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant P320A (human)
BMP receptor type-2 sequence variant C420R (human)
presenilin-1 sequence variant L250S (human)
cartilage oligomeric matrix protein sequence variant G299R (human)
microtubule-associated protein tau sequence variant N279K (human)
presenilin-1 sequence variant Q222R (human)
microtubule-associated protein tau sequence variant Y441H (human)
presenilin-1 sequence variant T147I (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant Y284C (human)
presenilin-1 sequence variant F177L (human)
presenilin-1 sequence variant V96F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant S225L (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant V310I (human)
TGF-beta receptor type-2 sequence variant A355P (human)
anti-Muellerian hormone type-2 receptor sequence variant V458A (human)
presenilin-1 sequence variant H214Y (human)
BMP receptor type-1A sequence variant C130R (human)
presenilin-1 sequence variant G206A (human)
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA L437P (human)
presenilin-1 sequence variant F105L (human)
presenilin-1 sequence variant I83T (human)
presenilin-1 sequence variant T274R (human)
presenilin-1 sequence variant L174M (human)
TGF-beta 1 sequence variant L10P (human)
amyloid-beta precursor protein sequence variant V717G (human)
cartilage oligomeric matrix protein sequence variant D408Y (human)
amyloid-beta precursor protein sequence variant A713T (human)
presenilin-2 sequence variant R62H (human)
presenilin-1 sequence variant P436S (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant D242N (human)
TGF-beta receptor type-2 sequence variant V387M (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human)
BMP receptor type-2 sequence variant C118W (human)
microtubule-associated protein tau sequence variant D285N (human)
BMP receptor type-1A sequence variant C124R (human)
BMP receptor type-2 sequence variant C123S (human)
presenilin-1 sequence variant R278T (human)
angiopoietin-1 receptor sequence variant R849W (human)
cartilage oligomeric matrix protein sequence variant G719D (human)
presenilin-1 sequence variant A431E (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant W276S (human)
presenilin-1 sequence variant I213L (human)
triggering receptor expressed on myeloid cells 2 sequence variant A192T (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G306R (human)
Muellerian-inhibiting factor sequence variant G101V (human)
microtubule-associated protein tau sequence variant R406W (human)
presenilin-1 sequence variant G394V (human)
presenilin-2 sequence variant M239V (human)
microtubule-associated protein tau sequence variant V289A (human)
anti-Muellerian hormone type-2 receptor sequence variant H282Q (human)
TGF-beta receptor type-1 sequence variant R487E (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant K318N (human)
cartilage oligomeric matrix protein sequence variant 33 (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant E160K (human)
presenilin-1 sequence variant C263R (human)
BMP receptor type-2 sequence variant C60Y (human)
cartilage oligomeric matrix protein sequence variant C328R (human)
pituitary homeobox 2 sequence variant L100Q (human)
voltage-gated potassium channel KCNV2 sequence variant S256W (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R555C (human)
presenilin-1 sequence variant F177S (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant W392R (human)
microtubule-associated protein tau sequence variant S447P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human)
microtubule-associated protein tau sequence variant V300I (human)
TGF-beta receptor type-2 sequence variant N435S (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G314S (human)
presenilin-1 sequence variant L286V (human)
BMP receptor type-2 sequence variant E224D (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G216R (human)
presenilin-1 sequence variant Y115C (human)
microtubule-associated protein tau sequence variant R370W (human)
presenilin-1 sequence variant S178P (human)
anti-Muellerian hormone type-2 receptor sequence variant R406Q (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant V529M (human)
cartilage oligomeric matrix protein sequence variant N523K (human)
cartilage oligomeric matrix protein sequence variant S459del (human)
microtubule-associated protein tau sequence variant R5H (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
presenilin-1 sequence variant A231V (human)
TGF-beta receptor type-2 sequence variant Y336N (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G189R (human)
presenilin-1 sequence variant E120K (human)
TGF-beta receptor type-2 sequence variant R537C (human)
microtubule-associated protein tau sequence variant G272V (human)
voltage-gated potassium channel KCNV2 sequence variant G459D (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)
presenilin-1 sequence variant A426P (human)
presenilin-2 sequence variant N141I (human)
nodal protein sequence variant R183Q (human)
amyloid-beta precursor protein sequence variant D694N (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R594Q (human)
presenilin-1 sequence variant E280G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human)
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant R283Q (human)
BMP receptor type-1A sequence variant C82Y (human)
presenilin-1 sequence variant N405S (human)
presenilin-1 sequence variant L418F (human)
presenilin-1 sequence variant R358Q (human)
presenilin-2 sequence variant S130L (human)
presenilin-1 sequence variant I408T (human)
TGF-beta 1 sequence variant R218H (human)
Muellerian-inhibiting factor sequence variant V12G (human)
TGF-beta receptor type-2 sequence variant R528C (human)
BMP receptor type-2 sequence variant C117Y (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)
TGF-beta receptor type-1 sequence variant K232E (human)
triggering receptor expressed on myeloid cells 2 sequence variant D134G (human)
microtubule-associated protein tau sequence variant P301S (human)
TGF-beta 1 sequence variant C225R (human)
microtubule-associated protein tau sequence variant T17M (human)
presenilin-1 sequence variant L262V (human)
TGF-beta receptor type-1 sequence variant M318R (human)
BMP receptor type-1A sequence variant Y62D (human)
TGF-beta receptor type-2 sequence variant E526Q (human)
TGF-beta 1 sequence variant R218C (human)
cartilage oligomeric matrix protein sequence variant C387G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A371T (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant R283W (human)
triggering receptor expressed on myeloid cells 2 sequence variant L211P (human)
presenilin-1 sequence variant A285V (human)
BMP receptor type-2 sequence variant C347Y (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant R333Q (human)
presenilin-1 sequence variant I439V (human)
TGF-beta 1 sequence variant H222D (human)
TGF-beta receptor type-1 sequence variant T200I (human)
presenilin-1 sequence variant L392V (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant T291R (human)
presenilin-1 sequence variant L166P (human)
voltage-gated potassium channel KCNV2 sequence variant W188C (human)
microtubule-associated protein tau sequence variant P301L (human)
presenilin-1 sequence variant G209V (human)
voltage-gated potassium channel KCNV2 sequence variant A259V (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant L266P (human)
presenilin-1 sequence variant M233L (human)
amyloid-beta precursor protein sequence variant E665D (human)
cartilage oligomeric matrix protein sequence variant D482G (human)
presenilin-1 sequence variant A260V (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R366P (human)
activin receptor type-2B sequence variant V494I (human)
presenilin-1 sequence variant F205L (human)
presenilin-1 sequence variant R269H (human)
presenilin-1 sequence variant P264L (human)
pituitary homeobox 2 sequence variant R89W (human)
presenilin-1 sequence variant M233T (human)
microtubule-associated protein tau sequence variant K317M (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A525T (human)
CREB-binding protein sequence variant R1378P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G325R (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A178T (human)
myeloid differentiation primary response protein MyD88 sequence variant R196C (human)
presenilin-1 sequence variant A231T (human)
microtubule-associated protein tau sequence variant K369I (human)
presenilin-1 sequence variant H163R (human)
cartilage oligomeric matrix protein sequence variant G440R (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R366W (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant F157C (human)
cyclin-dependent kinase 4 inhibitor B sequence variant A50V (human)
pituitary homeobox 2 sequence variant T114P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant T391I (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant Y281C (human)
BMP receptor type-2 sequence variant D485G (human)
amyloid-beta precursor protein sequence variant V717F (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant L243F (human)
presenilin-1 sequence variant E280A (human)
TGF-beta receptor type-2 sequence variant G357W (human)
presenilin-1 sequence variant L171P (human)
presenilin-2 sequence variant V148I (human)
presenilin-1 sequence variant P436Q (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human)
presenilin-1 sequence variant E120D (human)
anti-Muellerian hormone type-2 receptor sequence variant R54C (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant F547L (human)
TGF-beta receptor type-2 sequence variant S449F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G345E (human)
presenilin-1 sequence variant L134R (human)
cartilage oligomeric matrix protein sequence variant P276R (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant G557R (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G269S (human)
TGF-beta receptor type-2 sequence variant R528H (human)
anti-Muellerian hormone type-2 receptor sequence variant G142V (human)
cartilage oligomeric matrix protein sequence variant D472Y (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant 4 (human)
presenilin-1 sequence variant L271V (human)
cartilage oligomeric matrix protein sequence variant D361Y (human)
TGF-beta receptor type-1 sequence variant R487W (human)
TGF-beta receptor type-2 sequence variant T315M (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human)
pituitary homeobox 2 sequence variant R137P (human)
cartilage oligomeric matrix protein sequence variant 26 (human)
amyloid-beta precursor protein sequence variant D678N (human)
presenilin-1 sequence variant G209R (human)
presenilin-1 sequence variant P117L (human)
TGF-beta 1 sequence variant T81H (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
amyloid-beta precursor protein sequence variant L723P (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant H228Q (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant T587M (human)
TGF-beta receptor type-2 sequence variant R460C (human)
presenilin-1 sequence variant M139V (human)
activin receptor type-2B sequence variant R40H (human)
presenilin-1 sequence variant E318G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human)
presenilin-1 sequence variant I143T (human)
voltage-gated potassium channel KCNV2 sequence variant L126Q (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant S566F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant Y315S (human)
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
presenilin-1 sequence variant M139K (human)
pituitary homeobox 2 sequence variant R115H (human)
presenilin-1 sequence variant M146I (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
activin receptor type-1 sequence variant R206H (human)
cGMP-gated cation channel alpha-1 sequence variant S320F (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
presenilin-1 sequence variant G378E (human)
amyloid-beta precursor protein sequence variant E693K (human)
presenilin-1 sequence variant M139I (human)
presenilin-1 sequence variant V261F (human)
TGF-beta receptor type-1 sequence variant N267H (human)
BMP receptor type-2 sequence variant C483R (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A344V (human)
anti-Muellerian hormone type-2 receptor sequence variant 9 (human)
presenilin-1 sequence variant L435F (human)
presenilin-1 sequence variant R35Q (human)
amyloid-beta precursor protein sequence variant T714A (human)
BMP receptor type-2 sequence variant K512T (human)
BMP receptor type-1B sequence variant I200K (human)
cartilage oligomeric matrix protein sequence variant D518N (human)
TGF-beta receptor type-1 sequence variant S241L (human)
amyloid-beta precursor protein sequence variant E501K (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human)
cartilage oligomeric matrix protein sequence variant C468Y (human)
cartilage oligomeric matrix protein sequence variant D372del (human)
presenilin-1 sequence variant S169L (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G345R (human)
presenilin-1 sequence variant I143F (human)
presenilin-1 sequence variant A79V (human)
Muellerian-inhibiting factor sequence variant Y167C (human)
presenilin-2 sequence variant M239I (human)
amyloid-beta precursor protein sequence variant L705V (human)
BMP receptor type-1A sequence variant C376Y (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant Y111C (human)
amyloid-beta precursor protein sequence variant V715M (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R591H (human)
presenilin-2 sequence variant R71W (human)
microtubule-associated protein tau sequence variant S320F (human)
presenilin-1 sequence variant T116N (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)
amyloid-beta precursor protein sequence variant V717L (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human)
amyloid-beta precursor protein sequence variant V717I (human)
microtubule-associated protein tau sequence variant V337M (human)
cyclic nucleotide-gated cation channel alpha-3 sequence variant R410W (human)
cartilage oligomeric matrix protein sequence variant T585R (human)
anti-Muellerian hormone type-2 receptor sequence variant D491H (human)
presenilin-1 sequence variant M146L (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant T311I (human)
microtubule-associated protein tau sequence variant T30A (human)
presenilin-2 sequence variant T122P (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant L281S (human)
BMP receptor type-2 sequence variant N519K (human)
presenilin-1 sequence variant A396T (human)
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA R385S (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human)
presenilin-1 sequence variant C92S (human)
presenilin-1 sequence variant G384A (human)
presenilin-1 sequence variant L235P (human)
TGF-beta receptor type-1 sequence variant D400G (human)
triggering receptor expressed on myeloid cells 2 sequence variant H157Y (human)
TGF-beta receptor type-2 sequence variant L308P (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human)
BMP receptor type-2 sequence variant C123R (human)
TGF-beta receptor type-2 sequence variant R460H (human)
presenilin-1 sequence variant V82L (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G168R (human)
presenilin-1 sequence variant L219P (human)
presenilin-1 sequence variant W165C (human)
cartilage oligomeric matrix protein sequence variant D290N (human)
presenilin-1 sequence variant G266S (human)
voltage-gated potassium channel subunit KCNQ2 isoform 3 sequence variant K526N (human)
presenilin-1 sequence variant D333G (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant L274H (human)
BMP receptor type-1A sequence variant A338D (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
Muellerian-inhibiting factor sequence variant V477A (human)
BMP receptor type-1A sequence variant M470T (human)
Muellerian-inhibiting factor sequence variant R123W (human)
presenilin-1 sequence variant A246E (human)
cartilage oligomeric matrix protein sequence variant C348R (human)
microtubule-associated protein tau sequence variant E342V (human)
methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA A289V (human)
presenilin-1 sequence variant I213T (human)
presenilin-1 sequence variant L173W (human)
triggering receptor expressed on myeloid cells 2 sequence variant T96K (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human)
cartilage oligomeric matrix protein sequence variant G440E (human)
cartilage oligomeric matrix protein sequence variant D469del (human)
presenilin-1 sequence variant Y115H (human)
presenilin-1 sequence variant T354I (human)
microtubule-associated protein tau sequence variant K257T (human)
microtubule-associated protein tau sequence variant K280del (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)
anti-Muellerian hormone type-2 receptor sequence variant D426G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant T309R (human)
cyclin-dependent kinase 4 inhibitor B sequence variant G47E (human)
angiopoietin-1 receptor sequence variant Y897S (human)
amyloid-beta precursor protein sequence variant E693Q (human)
presenilin-1 sequence variant L113P (human)
myeloid differentiation primary response protein MyD88 sequence variant L93P (human)
microtubule-associated protein tau sequence variant R5L (human)
presenilin-1 sequence variant L282R (human)
cartilage oligomeric matrix protein sequence variant D473del (human)
TGF-beta receptor type-2 sequence variant L452M (human)
amyloid-beta precursor protein sequence variant A713V (human)
presenilin-1 sequence variant S365Y (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant G589D (human)
voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant G321S (human)
presenilin-1 sequence variant M139T (human)
cartilage oligomeric matrix protein sequence variant D374del (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human)
cartilage oligomeric matrix protein sequence variant C371S (human)
cartilage oligomeric matrix protein sequence variant D420A (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant R583C (human)
amyloid-beta precursor protein sequence variant A692G (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant P448R (human)
amyloid-beta precursor protein sequence variant I716V (human)
BMP receptor type-1B sequence variant R486W (human)
presenilin-1 sequence variant C410Y (human)
presenilin-1 sequence variant L262F (human)
voltage-gated potassium channel subunit KCNQ1 sequence variant 29 (human)
cartilage oligomeric matrix protein sequence variant D342Y (human)
Muellerian-inhibiting factor sequence variant L70P (human)
microtubule-associated protein tau sequence variant G303V (human)
Muellerian-inhibiting factor sequence variant R194C (human)
presenilin-1 sequence variant H163Y (human)
voltage-gated potassium channel subunit KCNQ4 sequence variant G285S (human)
presenilin-1 sequence variant G209E (human)
presenilin-1 sequence variant M146V (human)
microtubule-associated protein tau sequence variant N296del (human)
cartilage oligomeric matrix protein sequence variant N453S (human)
BMP receptor type-1A sequence variant R443C (human)