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