Genename |
Variants |
ANKIB1(NM_019004,ankyrin repeat and IBR domain containing 1,1089aa) |
g.7:92027557A>G,c.2564A>G,p.N855S |
ANKIB1(NM_019004,ankyrin repeat and IBR domain containing 1,1089aa) |
g.7:92019330A>G,c.1952A>G,p.H651R |
ANKIB1(NM_019004,ankyrin repeat and IBR domain containing 1,1089aa) |
g.7:92000827A>G,c.1523A>G,p.N508S |
ANKH(NM_054027,ANKH inorganic pyrophosphate transport regulator,492aa) |
g.5:14751305C>T,c.560G>A,p.R187Q |
ANKH(NM_054027,ANKH inorganic pyrophosphate transport regulator,492aa) |
g.5:14713681C>T,c.1237G>A,p.A413T |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139917120G>T,c.7174G>T,p.V2392F |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139917106C>T,c.7160C>T,p.A2387V |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139917102C>G,c.7156C>G,p.P2386A |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139907810A>G,c.5279A>G,p.N1760S |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139905844G>A,c.4756G>A,p.G1586S |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139884478G>C,c.3077G>C,p.C1026S |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139876831C>T,c.2972C>T,p.T991M |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139876684G>C,c.2825G>C,p.G942A |
ANKHD1(NM_017747,ankyrin repeat and KH domain containing 1,2542aa) |
g.5:139815809C>G,c.427C>G,p.Q143E |
ANKHD1-EIF4EBP3(NM_020690,ANKHD1-EIF4EBP3 readthrough,2617aa) |
g.5:139921839G>A,c.7652G>A,p.R2551Q |
ANKFY1(NM_001257999,ankyrin repeat and FYVE domain containing 1,1211aa) |
g.17:4098747T>C,c.1249A>G,p.I417V |
ANKFY1(NM_001257999,ankyrin repeat and FYVE domain containing 1,1211aa) |
g.17:4077225C>T,c.3028G>A,p.V1010M |
ANKFY1(NM_001257999,ankyrin repeat and FYVE domain containing 1,1211aa) |
g.17:4076716C>T,c.3073G>A,p.G1025S |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54559730G>A,c.2114G>A,p.R705H |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54558123G>A,c.2044G>A,p.E682K |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54543825T>G,c.1675T>G,p.F559V |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54535266A>G,c.1492A>G,p.I498V |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54534634G>A,c.1333G>A,p.V445I |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54534629T>C,c.1328T>C,p.I443T |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54520282G>T,c.1096G>T,p.A366S |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54520211A>T,c.1025A>T,p.Q342L |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54450174C>T,c.778C>T,p.R260C |
ANKFN1(NM_153228,ankyrin-repeat and fibronectin type III domain containing 1,763aa) |
g.17:54450073G>A,c.677G>A,p.S226N |