Genename |
Variants |
ADD3(NM_016824,adducin 3 (gamma),706aa) |
g.10:111860465G>A,c.54G>A,p.M18I |
ADD2(NM_017488,adducin 2 (beta),643aa) |
g.2:70933416C>T,c.125G>A,p.R42Q |
ADD2(NM_017488,adducin 2 (beta),643aa) |
g.2:70901896G>A,c.1655C>T,p.T552M |
ADD2(NM_017488,adducin 2 (beta),643aa) |
g.2:70900420C>T,c.1780G>A,p.V594M |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2916762C>G,c.1850C>G,p.S617C |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2910323C>T,c.1690C>T,p.L564F |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2910308G>A,c.1675G>A,p.V559M |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2906707G>T,c.1378G>T,p.G460W |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2906701G>A,c.1372G>A,p.E458K |
ADD1(NM_176801,adducin 1 (alpha),662aa) |
g.4:2877658C>T,c.16C>T,p.R6C |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31139776G>A,c.1082G>A,p.R361Q |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31127245_31127246insG,c.889_890insG,p.297fs |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31126590C>T,c.857C>T,p.T286M |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31125029A>G,c.641A>G,p.Q214R |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31104538A>G,c.143A>G,p.N48S |
ADCYAP1R1(NM_001199635,adenylate cyclase activating polypeptide 1 (pituitary) receptor type I,496aa) |
g.7:31104520A>G,c.125A>G,p.N42S |
ADCYAP1(NM_001117,adenylate cyclase activating polypeptide 1 (pituitary),176aa) |
g.18:909548T>A,c.443T>A,p.M148K |
ADCYAP1(NM_001117,adenylate cyclase activating polypeptide 1 (pituitary),176aa) |
g.18:908295C>T,c.272C>T,p.A91V |
ADCYAP1(NM_001117,adenylate cyclase activating polypeptide 1 (pituitary),176aa) |
g.18:907710A>G,c.161A>G,p.D54G |
ADCYAP1(NM_001117,adenylate cyclase activating polypeptide 1 (pituitary),176aa) |
g.18:905428A>G,c.41A>G,p.Y14C |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4165257C>A,c.187G>T,p.V63F |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4164939C>A,c.505G>T,p.A169S |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4164662T>A,c.782A>T,p.Y261F |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4163754T>G,c.1690A>C,p.K564Q |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4043466C>T,c.1930G>A,p.G644S |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4033436T>C,c.2316A>G,p.I772M |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4033324C>T,c.2428G>A,p.E810K |
ADCY9(NM_001116,adenylate cyclase 9,1353aa) |
g.16:4033302G>A,c.2450C>T,p.P817L |