| Achondrogenesis (due to SLC26A2) |
rs786200881 |
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) |
| Achondrogenesis (due to SLC26A2) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Achondrogenesis (due to SLC26A2) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Achondrogenesis (due to SLC26A2) |
rs104893924 |
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) |
| Achromatopsia (due to CNGA3) |
rs137852608 |
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) |
| Achromatopsia (due to CNGA3) |
rs147118493 |
NM_001298.3(CNGA3):c.101+1G>A |
| Achromatopsia (due to CNGA3) |
rs104893612 |
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) |
| Achromatopsia (due to CNGA3) |
rs104893613 |
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) |
| Achromatopsia (due to CNGA3) |
rs104893614 |
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) |
| Achromatopsia (due to CNGA3) |
rs104893615 |
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) |
| Achromatopsia (due to CNGA3) |
rs104893619 |
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) |
| Achromatopsia (due to CNGA3) |
rs104893617 |
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) |
| Achromatopsia (due to CNGA3) |
rs104893617 |
NM_001298.3(CNGA3):c.1641C>T (p.Phe547=) |
| Achromatopsia (due to CNGA3) |
rs104893620 |
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) |
| Achromatopsia (due to PDE6H) |
rs200311463 |
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) |
| Achromatopsia (due to CNGB3) |
rs397515360 |
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) |
| Achromatopsia (due to IVD) |
rs121918344 |
NM_002225.5(IVD):c.932C>T (p.Ala311Val) |
| Achromatopsia (due to CNGB3) |
rs267606739 |
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) |
| Achromatopsia (due to ATF6) |
rs761129859 |
NM_007348.4(ATF6):c.1187+5G>A |
| Achromatopsia (due to ATF6) |
rs797045172 |
NM_007348.4(ATF6):c.1533+1G>C |
| Achromatopsia (due to ATF6) |
rs761357250 |
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) |
| Achromatopsia (due to ATF6) |
rs796065053 |
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) |
| Agenesis of the Corpus Callosum with Peripheral Neuropathy (due to SLC12A6) |
rs515726215 |
NM_001365088.1(SLC12A6):c.2436+1del |
| Alkaptonuria (due to HGD) |
rs28942100 |
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) |
| Alkaptonuria (due to HGD) |
rs28941783 |
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) |
| Alkaptonuria (due to HGD) |
rs120074170 |
NM_000187.4(HGD):c.899T>G (p.Val300Gly) |
| Alkaptonuria (due to HGD) |
rs120074171 |
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) |
| Alkaptonuria (due to HGD) |
rs120074172 |
NM_000187.4(HGD):c.1112A>G (p.His371Arg) |
| Alkaptonuria (due to HGD) |
rs120074173 |
NM_000187.4(HGD):c.1102A>G (p.Met368Val) |
| Alkaptonuria (due to HGD) |
rs120074174 |
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) |
| Alkaptonuria (due to HGD) |
rs397515346 |
NM_000187.4(HGD):c.457dup (p.Asp153fs) |
| Alpha-Mannosidosis (due to MAN2B1) |
rs775200333 |
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) |
| Andermann syndrome (due to SLC12A6) |
rs35583475 |
NM_001365088.1(SLC12A6):c.963C>T, Benign |
| ARSACS (due to SACS) |
rs281865117 |
NM_014363.6(SACS):c.8844del (p.Ile2949fs) |
| ARSACS (due to SACS) |
rs281865118 |
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) |
| ARSACS (due to SACS) |
rs281865119 |
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) |
| ARSACS (due to SACS) |
rs281865120 |
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852944 |
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs398124502 |
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs28937907 |
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs137852946 |
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs369925690 |
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs199531851 |
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs200179145 |
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs760222236 |
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) |
| Autosomal recessive Polycystic Kidney Disease (due to PKHD1) |
rs200511261 |
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs549625604 |
NM_024685.4(BBS10):c.271dup (p.Cys91fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs141521925 |
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs761101213 |
NM_024685.4(BBS10):c.687del (p.Val230fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs863224522 |
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs727503818 |
NM_024685.4(BBS10):c.1091del (p.Asn364fs) |
| Bardet-Biedl Syndrome (due to BBS10) |
rs148374859 |
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) |
| Bardet-Biedl Syndrome (due to BBS1) |
rs113624356 |
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34598529 |
NM_000518.5(HBB):c.-79A>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33960103 |
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33960103 |
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.-50A>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33915217 |
NM_000518.5(HBB):c.92+5G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35724775 |
NM_000518.5(HBB):c.92+6T>C |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35724775 |
NM_000518.5(HBB):c.92+6T>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs35004220 |
NM_000518.5(HBB):c.93-21G>A |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34451549 |
NM_000518.5(HBB):c.316-197C>T |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs34690599 |
NM_000518.5(HBB):c.316-106C>G |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs63750783 |
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs11549407 |
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs11549407 |
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) |
| Beta Thalassemia & related hemoglobinopathies (due to HBB) |
rs33930165 |
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) |
| Biotinidase deficiency (due to BTD) |
rs13078881 |
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) |
| Biotinidase deficiency (due to BTD) |
rs13073139 |
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) |
| Biotinidase deficiency (due to BTD) |
rs80338684 |
NM_001370658.1(BTD):c.38_44delinsTCC |
| Biotinidase deficiency (due to BTD) |
rs80338685 |
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) |
| Biotinidase deficiency (due to BTD) |
rs80338686 |
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) |
| Biotinidase deficiency (due to BTD) |
rs28934601 |
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) |
| Biotinidase deficiency (due to BTD) |
rs397507176 |
NM_001370658.1(BTD):c.908A>G (p.His303Arg) |
| Bloom syndrome (due to BLM) |
rs113993962 |
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) |
| Bloom syndrome (due to BLM) |
rs367543035 |
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) |
| Canavan Disease (due to ASPA) |
rs28940279 |
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) |
| Canavan Disease (due to ASPA) |
rs28940574 |
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) |
| Canavan Disease (due to ASPA) |
rs12948217 |
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) |
| Canavan Disease (due to ASPA) |
rs12948217 |
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) |
| Canavan Disease (due to ASPA) |
rs63751297 |
NM_000049.4(ASPA):c.433-2A>G |
| Canavan Disease (due to ASPA) |
rs104894553 |
NM_000049.4(ASPA):c.212G>A (p.Arg71His) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs189174414 |
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs191107774 |
NM_001876.4(CPT1A):c.281+1G>A |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs398123654 |
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356774 |
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356775 |
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356779 |
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356780 |
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) |
| Carnitine Palmitoyltransferase deficiency 1A (due to CPT1A) |
rs80356798 |
NM_001876.4(CPT1A):c.1876-1G>A |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315295 |
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs121918528 |
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936375 |
NM_000098.3(CPT2):c.149C>A (p.Pro50His) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936673 |
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs201065226 |
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315293 |
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936674 |
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315296 |
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315297 |
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs74315298 |
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs727503887 |
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs397509431 |
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726174 |
NM_000098.3(CPT2):c.641T>C (p.Met214Thr) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726175 |
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs28936376 |
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726173 |
NM_000098.3(CPT2):c.534_558delinsT |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs515726177 |
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) |
| Carnitine Palmitoyltransferase deficiency 2 (due to CPT2) |
rs186044004 |
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) |
| Choroideremia (due to CHM) |
rs132630266 |
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) |
| Choroideremia (due to CHM) |
rs386833676 |
NM_000390.4(CHM):c.1609+2dup |
| Citrullinemia type I (due to ASS1) |
rs121908639 |
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) |
| Citrullinemia type I (due to ASS1) |
rs121908641 |
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) |
| Citrullinemia type I (due to ASS1) |
rs121908643 |
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) |
| Citrullinemia type I (due to ASS1) |
rs121908646 |
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) |
| Citrullinemia type I (due to ASS1) |
rs121908647 |
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) |
| Citrullinemia type I (due to ASS1) |
rs121908648 |
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) |
| Citrullinemia type I (due to ASS1) |
rs148918985 |
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) |
| Citrullinemia type I (due to ASS1) |
rs192838388 |
NM_054012.4(ASS1):c.787G>A (p.Val263Met) |
| Citrullinemia type I (due to ASS1) |
rs199751308 |
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) |
| Citrullinemia type I (due to ASS1) |
rs370595480 |
NM_054012.4(ASS1):c.805G>A (p.Val269Met) |
| Citrullinemia type I (due to ASS1) |
rs398123130 |
NM_054012.4(ASS1):c.496-2A>G |
| Citrullinemia type I (due to ASS1) |
rs398123131 |
NM_054012.4(ASS1):c.794G>A (p.Arg265His) |
| Citrullinemia type I (due to ASS1) |
rs751930594 |
NM_054012.4(ASS1):c.421-2A>G |
| Citrullinemia type I (due to ASS1) |
rs751930594 |
NM_054012.4(ASS1):c.421-2A>T |
| Citrullinemia type II (due to SLC25A13) |
rs121908532 |
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) |
| Citrullinemia type II (due to SLC25A13) |
rs80338720 |
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) |
| Citrullinemia type II (due to SLC25A13) |
rs80338722 |
NM_014251.3(SLC25A13):c.1177+1G>A |
| Citrullinemia type II (due to SLC25A13) |
rs80338729 |
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs193922688 |
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917845 |
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917839 |
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917840 |
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917842 |
NM_006261.5(PROP1):c.218G>A (p.Arg73His) |
| Combined Pituitary Hormone Deficiency (due to PROP1) |
rs121917843 |
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894135 |
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894138 |
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894139 |
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894143 |
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894144 |
NM_000102.4(CYP17A1):c.985T>G (p.Tyr329Asp) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894153 |
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) |
| Congenital Adrenal Hyperplasia (due to CYP17A1) |
rs104894154 |
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) |
| Congenital Disorder of Glycosylation type 1A (due to PMM2) |
rs28936415 |
NM_000303.3(PMM2):c.422G>A (p.Arg141His) |
| Congenital Disorder of Glycosylation type 1A (due to PMM2) |
rs80338701 |
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) |
| Congenital Disorder of Glycosylation type 1A (due to PMM2) |
rs80338702 |
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) |
| Congenital Disorder of Glycosylation type 1A (due to PMM2) |
rs80338703 |
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) |
| Cystic fibrosis (due to CFTR) |
rs80224560 |
NM_000492.4(CFTR):c.2657+5G>A |
| Cystic fibrosis (due to CFTR) |
rs113993960 |
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) |
| Cystic fibrosis (due to CFTR) |
rs75961395 |
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) |
| Cystic fibrosis (due to CFTR) |
rs121908767 |
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) |
| Cystic fibrosis (due to CFTR) |
rs77932196 |
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) |
| Cystic fibrosis (due to CFTR) |
rs74551128 |
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) |
| Cystic fibrosis (due to CFTR) |
rs77646904 |
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) |
| Cystic fibrosis (due to CFTR) |
rs113993958 |
NM_000492.4(CFTR):c.328G>C (p.Asp110His) |
| Cystic fibrosis (due to CFTR) |
rs113993959 |
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) |
| Cystic fibrosis (due to CFTR) |
rs121908748 |
NM_000492.4(CFTR):c.1766+1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908748 |
NM_000492.4(CFTR):c.1766+1G>C |
| Cystic fibrosis (due to CFTR) |
rs75096551 |
NM_000492.4(CFTR):c.2988+1G>A |
| Cystic fibrosis (due to CFTR) |
rs121908747 |
NM_000492.3(CFTR):c.3528del (p.Lys1177fs) |
| Cystic fibrosis (due to CFTR) |
rs121909005 |
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) |
| Cystic fibrosis (due to CFTR) |
rs121908789 |
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) |
| Cystic fibrosis (due to CFTR) |
rs75039782 |
NM_000492.3(CFTR):c.3718-2477C>T |
| Cystic fibrosis (due to CFTR) |
rs121908755 |
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) |
| Cystic fibrosis (due to CFTR) |
rs121908755 |
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) |
| Cystic fibrosis (due to CFTR) |
rs75527207 |
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) |
| Cystic fibrosis (due to CFTR) |
rs74597325 |
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) |
| Cystic fibrosis (due to CFTR) |
rs80055610 |
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) |
| Cystic fibrosis (due to CFTR) |
rs80055610 |
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) |
| Cystic fibrosis (due to CFTR) |
rs74767530 |
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) |
| Cystic fibrosis (due to CFTR) |
rs77010898 |
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) |
| Cystic fibrosis (due to CFTR) |
rs80034486 |
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) |
| Cystic fibrosis (due to CFTR) |
rs121908769 |
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) |
| Cystic fibrosis (due to CFTR) |
rs78756941 |
NM_000492.4(CFTR):c.489+1G>T |
| Cystic fibrosis (due to CFTR) |
rs77188391 |
NM_000492.4(CFTR):c.579+1G>T |
| Cystic fibrosis (due to CFTR) |
rs121908744 |
NM_000492.4(CFTR):c.948del (p.Phe316fs) |
| Cystic fibrosis (due to CFTR) |
rs76713772 |
NM_000492.4(CFTR):c.1585-1G>A |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs137853097 |
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs368744809 |
NC_000005.9:g.118829592G>T |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs25640 |
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs794729224 |
NC_000005.9:g.118792015G>T |
| D-Bifunctional Protein Deficiency (due to HSD17B4) |
rs863225438 |
NM_000414.4(HSD17B4):c.302+3_302+6del |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894395 |
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894396 |
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894397 |
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894398 |
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894401 |
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894402 |
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894404 |
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894407 |
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894408 |
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894409 |
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs104894413 |
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033190 |
NM_004004.6(GJB2):c.95G>A (p.Arg32His) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033204 |
NM_004004.6(GJB2):c.299_300del (p.His100fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033217 |
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033253 |
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033293 |
NM_004004.6(GJB2):c.1A>G (p.Met1Val) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033294 |
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033297 |
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033299 |
NM_004004.6(GJB2):c.283G>A (p.Val95Met) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033401 |
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) |
| Deafness (Keratitis-ichthyosis) (due to GJB2) |
rs111033451 |
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893915 |
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893916 |
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893918 |
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893919 |
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) |
| Diastrophic Dysplasia (due to SLC26A2) |
rs104893924 |
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) |
| Dihydrolipoamide Dehydrogenase deficiency (due to DLD) |
rs121964990 |
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) |
| Dihydrolipoamide Dehydrogenase deficiency (due to DLD) |
rs121964992 |
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs55886062 |
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs3918290 |
NM_000110.4(DPYD):c.1905+1G>A |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs3918290 |
NM_000110.4(DPYD):c.1905+1G>C |
| Dihydropyrimidine Dehydrogenase Deficiency (due to DPYD) |
rs67376798 |
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) |
| Dilated Cardiomyopathy (due to FKTN) |
rs119463994 |
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224977 |
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124092 |
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123937 |
NM_004006.3(DMD):c.3432+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224976 |
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs72468700 |
NM_004006.3(DMD):c.1332-9A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124091 |
NM_004006.3(DMD):c.9225-647A>G |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123935 |
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863224975 |
NM_004006.3(DMD):c.10133del (p.Asn3378fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123934 |
NM_004006.3(DMD):c.3276+1G>A |
| Duchenne Muscular Distrophy (due to DMD) |
rs398123929 |
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) |
| Duchenne Muscular Distrophy (due to DMD) |
rs398124080 |
NM_004006.3(DMD):c.9125del (p.His3042fs) |
| Duchenne Muscular Distrophy (due to DMD) |
rs863225017 |
NM_004006.3(DMD):c.9551dup (p.Asn3184fs) |
| Factor XI Deficiency (due to F11) |
rs121965063 |
NM_000128.4(F11):c.403G>T (p.Glu135Ter) |
| Factor XI Deficiency (due to F11) |
rs121965064 |
NM_000128.4(F11):c.901T>C (p.Phe301Leu) |
| Factor XI Deficiency (due to F11) |
rs201007090 |
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) |
| Factor XI Deficiency (due to F11) |
rs121965065 |
NM_000128.4(F11):c.1378T>G (p.Phe460Val) |
| Factor XI Deficiency (due to F11) |
rs281875250 |
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) |
| Factor XI Deficiency (due to F11) |
rs28934608 |
NM_000128.4(F11):c.976C>T (p.Arg326Cys) |
| Familial Dysautonomia (due to ELP1) |
rs111033171 |
NM_003640.5(ELP1):c.2204+6T>C |
| Familial Dysautonomia (due to ELP1) |
rs137853022 |
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) |
| Familial Dysautonomia (due to ELP1) |
rs137853022 |
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) |
| Familial Dysautonomia (due to ELP1) |
rs28939712 |
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) |
| Familial Hypercholesterolemia (due to LDLR) |
rs769446356 |
NM_000527.5(LDLR):c.190+4A>T |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908025 |
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) |
| Familial Hypercholesterolemia (due to LDLR) |
rs771019366 |
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) |
| Familial Hypercholesterolemia (due to LDLR) |
rs144172724 |
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908026 |
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908039 |
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908027 |
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) |
| Familial Hypercholesterolemia (due to LDLR) |
rs373822756 |
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908029 |
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) |
| Familial Hypercholesterolemia (due to LDLR) |
rs139043155 |
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) |
| Familial Hypercholesterolemia (due to LDLR) |
rs140241383 |
NM_000527.5(LDLR):c.858C>T (p.Ser286=) |
| Familial Hypercholesterolemia (due to LDLR) |
rs730882096 |
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) |
| Familial Hypercholesterolemia (due to LDLR) |
rs137943601 |
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) |
| Familial Hypercholesterolemia (due to LDLR) |
rs28942078 |
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) |
| Familial Hypercholesterolemia (due to LDLR) |
rs139624145 |
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) |
| Familial Hypercholesterolemia (due to LDLR) |
rs28941776 |
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) |
| Familial Hypercholesterolemia (due to LDLR) |
rs138947766 |
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) |
| Familial Hypercholesterolemia (due to LDLR) |
rs730882109 |
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) |
| Familial Hypercholesterolemia (due to LDLR) |
rs730882109 |
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) |
| Familial Hypercholesterolemia (due to LDLR) |
rs137929307 |
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) |
| Familial Hypercholesterolemia (due to LDLR) |
rs775092314 |
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) |
| Familial Hypercholesterolemia (due to LDLR) |
rs121908031 |
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) |
| Familial Hypercholesterolemia (due to LDLR) |
rs28942084 |
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) |
| Familial Hypercholesterolemia (due to APOB) |
rs144467873 |
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) |
| Familial Hypercholesterolemia (due to APOB) |
rs5742904 |
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) |
| Familial Mediterranean fever (due to MEFV) |
rs61752717 |
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) |
| Familial Mediterranean fever (due to MEFV) |
rs61752717 |
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) |
| Familial Mediterranean fever (due to MEFV) |
rs28940579 |
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) |
| Familial Mediterranean fever (due to MEFV) |
rs28940579 |
NM_000243.3(MEFV):c.2177T>A |
| Familial Mediterranean fever (due to MEFV) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs28940580 |
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs28940578 |
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) |
| Familial Mediterranean fever (due to MEFV) |
rs61732874 |
NM_000243.2(MEFV):c.2230G>T |
| Familial Mediterranean fever (due to MEFV) |
rs104895097 |
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) |
| Familial Mediterranean fever (due to MEFV) |
rs104895085 |
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) |
| Familial Mediterranean fever (due to MEFV) |
rs104895093 |
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) |
| Fanconi Anemia (due to FANCG) |
rs397507560 |
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) |
| Fanconi Anemia (due to FANCG) |
rs149616199 |
NM_004629.2(FANCG):c.1480+1G>C |
| Fanconi Anemia (due to FANCG) |
rs397507559 |
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) |
| Fanconi Anemia (due to FANCG) |
rs200479612 |
NM_004629.2(FANCG):c.307+1G>C |
| Fanconi Anemia (due to FANCG) |
rs863224506 |
NM_004629.2(FANCG):c.156dup (p.Leu53fs) |
| Fanconi Anemia (due to FANCG) |
rs786204205 |
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) |
| Fanconi Anemia (due to FANCG) |
rs121434426 |
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) |
| Fanconi Anemia (due to FANCC) |
rs104886456 |
NM_000136.3(FANCC):c.456+4A>T |
| Fanconi Anemia (due to FANCC) |
rs104886457 |
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) |
| Fanconi Anemia (due to FANCC) |
rs104886459 |
NM_000136.3(FANCC):c.67del (p.Asp23fs) |
| Fanconi Anemia (due to FANCC) |
rs104886458 |
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) |
| G6PD (due to G6PD) |
rs1050828 |
NM_000402.4(G6PD):c.292G>A (p.Val98Met) |
| G6PD (due to G6PD) |
rs137852313 |
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) |
| G6PD (due to G6PD) |
rs137852314 |
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) |
| G6PD (due to G6PD) |
rs137852315 |
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) |
| G6PD (due to G6PD) |
rs137852316 |
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) |
| G6PD (due to G6PD) |
rs137852317 |
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) |
| G6PD (due to G6PD) |
rs137852318 |
NM_000402.4(G6PD):c.934G>C (p.Asp312His) |
| G6PD (due to G6PD) |
rs137852319 |
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) |
| G6PD (due to G6PD) |
rs137852320 |
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) |
| G6PD (due to G6PD) |
rs137852321 |
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) |
| G6PD (due to G6PD) |
rs137852334 |
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) |
| G6PD (due to G6PD) |
rs78478128 |
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) |
| G6PD (due to G6PD) |
rs137852336 |
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) |
| G6PD (due to G6PD) |
rs78365220 |
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) |
| G6PD (due to G6PD) |
rs137852339 |
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) |
| G6PD (due to G6PD) |
rs137852340 |
NM_000402.4(G6PD):c.185A>G (p.His62Arg) |
| G6PD (due to G6PD) |
rs137852342 |
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) |
| G6PD (due to G6PD) |
rs137852343 |
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) |
| G6PD (due to G6PD) |
rs137852349 |
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) |
| G6PD (due to G6PD) |
rs137852345 |
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) |
| G6PD (due to G6PD) |
rs137852322 |
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) |
| G6PD (due to G6PD) |
rs137852323 |
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) |
| G6PD (due to G6PD) |
rs137852324 |
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) |
| G6PD (due to G6PD) |
rs137852325 |
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) |
| G6PD (due to G6PD) |
rs137852326 |
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) |
| G6PD (due to G6PD) |
rs137852327 |
NM_000402.4(G6PD):c.961G>A (p.Val321Met) |
| G6PD (due to G6PD) |
rs137852328 |
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) |
| G6PD (due to G6PD) |
rs137852328 |
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) |
| G6PD (due to G6PD) |
rs137852329 |
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) |
| G6PD (due to G6PD) |
rs137852330 |
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) |
| G6PD (due to G6PD) |
rs137852331 |
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) |
| G6PD (due to G6PD) |
rs137852332 |
NM_000402.4(G6PD):c.683G>A (p.Arg228His) |
| G6PD (due to G6PD) |
rs137852333 |
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) |
| G6PD (due to G6PD) |
rs137852346 |
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) |
| G6PD (due to G6PD) |
rs137852347 |
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) |
| G6PD (due to G6PD) |
rs398123546 |
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) |
| G6PD (due to G6PD) |
rs5030868 |
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) |
| G6PD (due to G6PD) |
rs5030869 |
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) |
| G6PD (due to G6PD) |
rs72554664 |
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) |
| G6PD (due to G6PD) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) |
| G6PD (due to G6PD) |
rs72554665 |
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) |
| G6PD (due to G6PD) |
rs72554665 |
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) |
| G6PD (due to G6PD) |
rs76723693 |
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) |
| Galactosylceramide beta-galactosidase deficiency (due to GALC) |
rs121908010 |
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) |
| Gaucher Disease (due to GBA1) |
rs76763715 |
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) |
| Gaucher Disease (due to GBA1) |
rs76763715 |
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr) |
| Gaucher Disease (due to GBA1) |
rs387906315 |
NM_000157.4(GBA1):c.84dup (p.Leu29fs) |
| Gaucher Disease (due to GBA1) |
rs80356769 |
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) |
| Glutaric acidemia (due to GCDH) |
rs121434367 |
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) |
| Glutaric acidemia (due to GCDH) |
rs121434369 |
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) |
| Glutaric acidemia (due to ETFDH) |
rs121964953 |
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) |
| Glutaric acidemia (due to ETFDH) |
rs121964955 |
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) |
| Glutaric acidemia (due to ETFDH) |
rs121964955 |
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) |
| Glutaric acidemia (due to ETFDH) |
rs121964956 |
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) |
| Glutaric acidemia (due to ETFA) |
rs119458969 |
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) |
| Glutaric acidemia (due to ETFA) |
rs119458971 |
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) |
| Glutaric acidemia (due to ETFB) |
rs104894677 |
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) |
| Glutaric acidemia (due to ETFB) |
rs104894678 |
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) |
| Glutaric acidemia (due to ETFDH) |
rs377656387 |
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) |
| Glutaric acidemia (due to ETFDH) |
rs387907170 |
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) |
| Glycogen storage disease type 1a (due to G6PC1) |
rs1801175 |
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) |
| Glycogen storage disease type 1a (due to G6PC1) |
rs80356482 |
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) |
| Glycogen storage disease type 1b (due to SLC37A4) |
rs80356489 |
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) |
| Glycogen storage disease type 1b (due to SLC37A4) |
rs80356491 |
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) |
| Glycogen storage disease type V (due to PYGM) |
rs764313717 |
NM_005609.4(PYGM):c.425-26A>G |
| GrACILE syndrome (due to BCS1L) |
rs28937590 |
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) |
| Hemophilia B (due to F9) |
rs137852226 |
NM_000133.4(F9):c.218A>T (p.Glu73Val) |
| Hemophilia B (due to F9) |
rs137852224 |
NM_000133.4(F9):c.190T>C (p.Cys64Arg) |
| Hemophilia B (due to F9) |
rs137852238 |
NM_000133.4(F9):c.572G>A (p.Arg191His) |
| Hemophilia B (due to F9) |
rs137852242 |
NM_000133.3(F9):c.541G>T (p.Val181Phe) |
| Hemophilia B (due to F9) |
rs137852247 |
NM_000133.4(F9):c.835G>A (p.Ala279Thr) |
| Hemophilia B (due to F9) |
rs137852264 |
NM_000133.4:c.1226G>T (p.Gly366Val) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs1800546 |
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs76917243 |
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs387906225 |
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs78340951 |
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204428 |
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204429 |
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs118204430 |
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs145078268 |
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs369586696 |
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs41281039 |
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) |
| Hereditary Fructose Intolerance (due to ALDOB) |
rs764826805 |
NM_000035.4(ALDOB):c.324+1G>A |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMC2) |
rs118203899 |
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMC2) |
rs80356683 |
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356680 |
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356681 |
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs80356682 |
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs201551805 |
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) |
| Herlitz Junctional Epidermolysis Bullosa (due to LAMB3) |
rs786205451 |
NM_000228.3(LAMB3):c.1977-1G>A |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs387906309 |
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs147324677 |
NM_000520.6(HEXA):c.1421+1G>C |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907954 |
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs76173977 |
NM_000520.6(HEXA):c.1073+1G>A |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs28942071 |
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907956 |
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907957 |
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907972 |
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907952 |
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907958 |
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907959 |
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907960 |
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907966 |
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907973 |
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907977 |
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907980 |
NM_000520.6(HEXA):c.805+1G>A |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907953 |
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs121907955 |
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs28941770 |
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs28941770 |
NM_000520.6(HEXA):c.533G>A (p.Arg178His) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs117160567 |
NM_000520.6(HEXA):c.672+30T>G |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs150675340 |
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs28941770 |
NM_000520.6(HEXA):c.533G>C |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs370266293 |
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs387906311 |
NM_000520.6(HEXA):c.672+1G>A |
| Hexosaminidase A Deficiency(Including Tay-Sachs Disease) (due to HEXA) |
rs387906949 |
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) |
| Homocysteinemia (due to MTHFR) |
rs543016186 |
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) |
| Homocysteinemia (due to MTHFR) |
rs200137991 |
NM_005957.5(MTHFR):c.1262G>T |
| Homocysteinemia (due to MTHFR) |
rs138189536 |
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) |
| Homocystinuria (due to CBS) |
rs5742905 |
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) |
| Homocystinuria (due to CBS) |
rs121964962 |
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) |
| Homocystinuria (due to CBS) |
rs121964972 |
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) |
| Homocystinuria (due to CBS) |
rs121964964 |
NM_000071.3(CBS):c.341C>T (p.Ala114Val) |
| Homocystinuria (due to CBS) |
rs375846341 |
NM_000071.3(CBS):c.1224-2A>C |
| Homocystinuria (due to CBS) |
rs121964969 |
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) |
| Homocystinuria (due to CBS) |
rs775992753 |
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) |
| Homocystinuria (due to CBS) |
rs781567152 |
NM_000071.3(CBS):c.959T>C (p.Val320Ala) |
| Hyperinsulinism (due to ABCC8) |
rs137852676 |
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) |
| Hyperinsulinism (due to ABCC8) |
rs1048095 |
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) |
| Hyperinsulinism (due to ABCC8) |
rs137852672 |
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) |
| Hyperinsulinism (due to ABCC8) |
rs151344623 |
NM_000352.6(ABCC8):c.3989-9G>A |
| Hyperinsulinism (due to ABCC8) |
rs151344623 |
NM_000352.6(ABCC8):c.3989-9G>C |
| Hyperinsulinism (due to ABCC8) |
rs151344623 |
NM_000352.6(ABCC8):c.3989-9G>T |
| Hyperinsulinism (due to ABCC8) |
rs151344624 |
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) |
| Inclusion Body Myopathy (due to GNE) |
rs28937594 |
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) |
| Inclusion Body Myopathy (due to GNE) |
rs748949603 |
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) |
| Inclusion Body Myopathy (due to GNE) |
rs779694939 |
NM_005476.7(GNE):c.647T>C (p.Val216Ala) |
| Inclusion Body Myopathy (due to GNE) |
rs121908629 |
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) |
| Inclusion Body Myopathy (due to GNE) |
rs886044449 |
NM_005476.7(GNE):c.1686del (p.Cys563fs) |
| Isovaleric Acidemia (due to IVD) |
rs121434284 |
NM_002225.5(IVD):c.125T>C (p.Leu42Pro) |
| Isovaleric Acidemia (due to IVD) |
rs121434285 |
NM_002225.5(IVD):c.596G>T (p.Gly199Val) |
| Isovaleric Acidemia (due to IVD) |
rs28940889 |
NM_002225.5(IVD):c.932C>T (p.Ala311Val) |
| Joubert Syndrome (due to TMEM216) |
rs201108965 |
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) |
| Joubert Syndrome (due to TMEM216) |
rs201108965 |
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) |
| Joubert Syndrome (due to TMEM216) |
rs755459875 |
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) |
| Krabbe Disease (due to GALC) |
rs121908010 |
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) |
| Krabbe Disease (due to GALC) |
rs199847983 |
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) |
| Leigh Syndrome, French Canadian Type (due to LRPPRC) |
rs119466000 |
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) |
| Limb-Girdle Muscular Dystrophy Type 2D (due to SGCA) |
rs28933693 |
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) |
| Limb-Girdle Muscular Dystrophy Type 2E (due to SGCB) |
rs28936383 |
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) |
| Limb-Girdle Muscular Dystrophy Type 2E (due to SGCB) |
rs150518260 |
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) |
| Limb-Girdle Muscular Dystrophy Type 2E (due to SGCB) |
rs796065319 |
NM_000232.5(SGCB):c.32dup (p.Gln12fs) |
| Limb-Girdle Muscular Dystrophy Type 2E (due to SGCB) |
rs104893868 |
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) |
| Limb-Girdle Muscular Dystrophy Type 2E (due to SGCB) |
rs104893871 |
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) |
| Limb-Girdle Muscular Dystrophy Type 2I (due to FKRP) |
rs28937900 |
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) |
| Maple Syrup Urine Disease Type 1A (due to BCKDHA) |
rs137852870 |
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) |
| Maple Syrup Urine Disease Type 1A (due to BCKDHA) |
rs137852871 |
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) |
| Maple Syrup Urine Disease Type 1B (due to BCKDHB) |
rs79761867 |
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) |
| Maple Syrup Urine Disease Type 1B (due to BCKDHB) |
rs386834233 |
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) |
| Maple Syrup Urine Disease Type 1B (due to BCKDHB) |
rs386834234 |
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) |
| Maple Syrup Urine Disease Type III (due to DLD) |
rs121964990 |
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) |
| Maple Syrup Urine Disease Type III (due to DLD) |
rs121964992 |
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (due to ACADM) |
rs121434280 |
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (due to ACADM) |
rs77931234 |
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (due to ACADM) |
rs373715782 |
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (due to ACADM) |
rs121434281 |
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (due to ACADM) |
rs200724875 |
NM_000016.6(ACADM):c.617G>A (p.Arg206His) |
| Metachromatic Leukodystrophy (due to ARSA) |
rs28940893 |
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) |
| Metachromatic Leukodystrophy (due to ARSA) |
rs74315455 |
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) |
| Metachromatic Leukodystrophy (due to ARSA) |
rs74315472 |
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) |
| Metachromatic Leukodystrophy (due to ARSA) |
rs80338815 |
NM_000487.6(ARSA):c.465+1G>A |
| Methylmalonic Acidemia (due to MMUT) |
rs121918252 |
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918253 |
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) |
| Methylmalonic Acidemia (due to MMUT) |
rs121918257 |
NM_000255.3(MMUT):c.322C>T |
| Methylmalonic Acidemia (due to MMUT) |
rs398123278 |
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) |
| Methylmalonic Acidemia (due to MMUT) |
rs190834116 |
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) |
| Methylmalonic Acidemia (due to MMUT) |
rs564069299 |
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) |
| Methylmalonic Acidemia (due to MMUT) |
rs727504022 |
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) |
| Methylmalonic Acidemia (due to MMUT) |
rs753288303 |
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) |
| Methylmalonic Acidemia (due to MMUT) |
rs760782399 |
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) |
| Methylmalonic Acidemia (due to MMUT) |
rs772552898 |
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) |
| Methylmalonic Acidemia (due to MMUT) |
rs778702777 |
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) |
| Methylmalonic Acidemia (due to MMUT) |
rs779990936 |
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) |
| Methylmalonic Acidemia (due to MMAB) |
rs369296618 |
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) |
| Mucolipidosis (due to MCOLN1) |
rs104886461 |
NM_020533.3(MCOLN1):c.406-2A>G |
| Mucopolysaccharidosis (due to IDUA) |
rs121965019 |
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) |
| Mucopolysaccharidosis (due to IDUA) |
rs121965021 |
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) |
| Mucopolysaccharidosis (due to IDUA) |
rs398123258 |
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) |
| Mucopolysaccharidosis (due to IDUA) |
rs199801029 |
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) |
| Muscular dystrophy-dystroglycanopathy (due to FKTN) |
rs537001725 |
NM_001198963.2:c.411C>A |
| Muscular dystrophy-dystroglycanopathy (due to FKTN) |
rs119463994 |
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) |
| Muscular dystrophy-dystroglycanopathy (due to FKTN) |
rs746763506 |
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) |
| Muscular dystrophy-dystroglycanopathy (due to FKTN) |
rs119463992 |
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) |
| Nemaline Myopathy (due to KLHL40) |
rs367579275 |
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) |
| Nemaline Myopathy (due to NEB) |
rs878854368 |
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA] |
| Nemaline Myopathy (due to NEB) |
rs398124167 |
NM_001164508.2(NEB):c.1152+1G>A |
| Nemaline Myopathy (due to NEB) |
rs201553266 |
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) |
| Nemaline Myopathy (due to NEB) |
rs769345284 |
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) |
| Nemaline Myopathy (due to NEB) |
rs797045736 |
NM_001164508.2(NEB):c.2211+5G>T |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852700 |
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852700 |
NM_000310.4(PPT1):c.451C>G (p.Arg151Gly) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852696 |
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) |
| Neuronal Ceroid Lipofuscinosis (due to PPT1) |
rs137852695 |
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs61504484 |
NC_000013.11:g.76992067C>A |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833695 |
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833740 |
NM_001042432.2(CLN3):c.944dup (p.His315fs) |
| Neuronal Ceroid Lipofuscinosis (due to CLN3) |
rs386833694 |
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) |
| Niemann-Pick Disease (due to NPC1) |
rs777286835 |
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) |
| Niemann-Pick Disease (due to NPC1) |
rs139751448 |
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) |
| Niemann-Pick Disease (due to NPC1) |
rs483352886 |
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) |
| Niemann-Pick Disease (due to NPC1) |
rs369368181 |
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) |
| Niemann-Pick Disease (due to NPC1) |
rs886042270 |
NM_000271.5(NPC1):c.1920del (p.His641fs) |
| Niemann-Pick Disease (due to NPC1) |
rs398123284 |
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) |
| Niemann-Pick Disease (due to NPC1) |
rs80358253 |
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) |
| Niemann-Pick Disease (due to NPC1) |
rs372030650 |
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) |
| Niemann-Pick Disease (due to NPC1) |
rs120074135 |
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) |
| Niemann-Pick Disease (due to NPC1) |
rs543206298 |
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) |
| Niemann-Pick Disease (due to NPC1) |
rs759826138 |
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) |
| Niemann-Pick Disease (due to NPC1) |
rs80358252 |
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) |
| Niemann-Pick Disease (due to NPC1) |
rs28942108 |
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) |
| Niemann-Pick Disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) |
| Niemann-Pick Disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) |
| Niemann-Pick Disease (due to NPC1) |
rs80358254 |
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) |
| Niemann-Pick Disease (due to NPC1) |
rs28942107 |
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) |
| Niemann-Pick Disease (due to NPC1) |
rs28942104 |
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) |
| Niemann-Pick Disease (due to NPC1) |
rs786204455 |
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) |
| Niemann-Pick Disease (due to NPC1) |
rs80358259 |
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) |
| Niemann-Pick Disease (due to NPC1) |
rs886042268 |
NM_000271.5(NPC1):c.3246-2A>G |
| Niemann-Pick Disease (due to NPC1) |
rs28942105 |
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) |
| Niemann-Pick Disease (due to NPC1) |
rs786200877 |
NM_000271.5(NPC1):c.3591+1G>A |
| Niemann-Pick Disease (due to NPC1) |
rs758902805 |
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) |
| Northern Epilepsy (due to CLN8) |
rs104894064 |
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) |
| Northern Epilepsy (due to CLN8) |
rs104894064 |
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys) |
| Oculocutaneous Albinism (due to TYR) |
rs61754381 |
NM_000372.5(TYR):c.1037-7T>A |
| Oculocutaneous Albinism (due to TYR) |
rs61754388 |
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) |
| Oculocutaneous Albinism (due to TYR) |
rs104894313 |
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) |
| Oculocutaneous Albinism (due to TYR) |
rs104894317 |
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) |
| Oculocutaneous Albinism (due to TYR) |
rs28940876 |
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) |
| Oculocutaneous Albinism (due to TYR) |
rs104894314 |
NM_000372.5(TYR):c.823G>T (p.Val275Phe) |
| Oculocutaneous Albinism (due to TYR) |
rs62645904 |
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) |
| Pendred Syndrome (due to SLC26A4) |
rs80338848 |
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) |
| Pendred Syndrome (due to SLC26A4) |
rs111033244 |
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) |
| Pendred Syndrome (due to SLC26A4) |
rs28939086 |
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) |
| Pendred Syndrome (due to SLC26A4) |
rs111033199 |
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) |
| Pendred Syndrome (due to SLC26A4) |
rs121908362 |
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) |
| Pendred Syndrome (due to SLC26A4) |
rs111033307 |
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs786204567 |
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs179363882 |
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs121434256 |
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs121434254 |
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) |
| Polyglandular Autoimmune Syndrome (due to AIRE) |
rs386833675 |
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) |
| Pompe Disease (due to GAA) |
rs28940868 |
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) |
| Pompe Disease (due to GAA) |
rs28940868 |
NM_000152.5(GAA):c.1935C>T (p.Asp645=) |
| Pompe Disease (due to GAA) |
rs386834236 |
NM_000152.5(GAA):c.-32-13T>G |
| Pompe Disease (due to GAA) |
rs121907942 |
NM_000152.5(GAA):c.-32-13T>C |
| Pompe Disease (due to GAA) |
rs28937909 |
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) |
| Pompe Disease (due to GAA) |
rs121907944 |
NM_000152.5(GAA):c.710C>T (p.Ala237Val) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs386134215 |
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs144547521 |
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs267607054 |
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552732 |
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs267607053 |
NM_003060.4(SLC22A5):c.1324_1325delinsAT |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552734 |
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs202088921 |
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs28383481 |
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs185551386 |
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs114269482 |
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs121908886 |
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs386134210 |
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552725 |
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs727504159 |
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs139203363 |
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs201082652 |
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs72552727 |
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs151231558 |
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs267607052 |
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs386134195 |
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs121908890 |
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs121908889 |
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs11568520 |
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) |
| Primary Carnitine Deficiency (due to SLC22A5) |
rs121908888 |
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs80356708 |
NM_012203.2(GRHPR):c.103del (p.Asp35fs) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177307 |
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177309 |
NM_012203.2(GRHPR):c.404+3_404+6del |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177316 |
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177317 |
NM_012203.2(GRHPR):c.735-1G>A |
| Primary Hyperoxaluria type II (due to GRHPR) |
rs180177321 |
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) |
| Primary Hyperoxaluria type III (due to HOGA1) |
rs267606762 |
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) |
| Primary Hyperoxaluria type III (due to HOGA1) |
rs185803104 |
NM_138413.4(HOGA1):c.700+5G>T |
| Primary Hyperoxaluria type III (due to HOGA1) |
rs138207257 |
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) |
| Primary Hyperoxaluria type III (due to HOGA1) |
rs397509360 |
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs28933390 |
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs1799807 |
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs104893684 |
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs115129687 |
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) |
| Pseudocholinesterase Deficiency (due to BCHE) |
rs121918558 |
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) |
| Pycnodysostosis (due to CTSK) |
rs74315305 |
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) |
| Pycnodysostosis (due to CTSK) |
rs74315303 |
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) |
| Pycnodysostosis (due to CTSK) |
rs74315304 |
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) |
| Pycnodysostosis (due to CTSK) |
rs29001685 |
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853256 |
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853259 |
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224155 |
NM_000284.4(PDHA1):c.1008+1_1008+27del |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs199959402 |
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853257 |
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853258 |
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224149 |
NM_000284.4(PDHA1):c.292-1G>A |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs606231189 |
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224153 |
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs398123300 |
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224156 |
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224150 |
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs794727621 |
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853252 |
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224148 |
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224145 |
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs137853255 |
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) |
| Pyruvate dehydrogenase deficiency (due to PDHA1) |
rs863224147 |
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs1805137 |
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909154 |
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909152 |
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs121909151 |
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) |
| Rhizomelic Chondrodysplasia Punctata Type 1 (due to PEX7) |
rs148591292 |
NM_000288.4(PEX7):c.903+1G>C |
| Salla Disease (due to SLC17A5) |
rs80338794 |
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) |
| Salla Disease (due to SLC17A5) |
rs80338795 |
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) |
| Salla Disease (due to SLC17A5) |
rs727504156 |
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) |
| Salla Disease (due to SLC17A5) |
rs386833994 |
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) |
| Salla Disease (due to SLC17A5) |
rs201284672 |
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) |
| Sickle Cell Anemia (due to HBB) |
rs334 |
NM_000518.5(HBB):c.20A>T (p.Glu7Val) |
| Sickle Cell Anemia (due to HBB) |
rs334 |
NM_000518.5(HBB):c.20A>G |
| Sickle Cell Anemia (due to HBB) |
rs334 |
NM_000518.5(HBB):c.20A>C |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547571 |
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs387906256 |
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547561 |
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547562 |
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) |
| Sjögren-Larsson Syndrome (due to ALDH3A2) |
rs72547569 |
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) |
| Tyrosinemia Type I (due to FAH) |
rs80338899 |
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) |
| Tyrosinemia Type I (due to FAH) |
rs80338898 |
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) |
| Tyrosinemia Type I (due to FAH) |
rs80338901 |
NM_000137.4(FAH):c.1062+5G>A |
| Tyrosinemia Type I (due to FAH) |
rs80338895 |
NM_000137.4(FAH):c.554-1G>T |
| Tyrosinemia Type I (due to FAH) |
rs80338900 |
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) |
| Tyrosinemia Type I (due to FAH) |
rs121965075 |
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) |
| Tyrosinemia Type I (due to FAH) |
rs80338894 |
NM_000137.4(FAH):c.192G>T (p.Gln64His) |
| Tyrosinemia Type I (due to FAH) |
rs370686447 |
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) |
| Tyrosinemia Type I (due to FAH) |
rs121965073 |
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) |
| Tyrosinemia Type I (due to FAH) |
rs80338897 |
NM_000137.4(FAH):c.698A>T (p.Asp233Val) |
| Usher Syndrome type 1F (due to PCDH15) |
rs111033260 |
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) |
| Usher Syndrome type 1F (due to PCDH15) |
rs727504301 |
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) |
| Usher Syndrome type 1F (due to PCDH15) |
rs137853003 |
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) |
| Usher Syndrome type 3A (due to CLRN1) |
rs111033258 |
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) |
| Usher Syndrome type 3A (due to CLRN1) |
rs786204428 |
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) |
| Usher Syndrome type 3A (due to CLRN1) |
rs111033267 |
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) |
| Usher Syndrome type 3A (due to CLRN1) |
rs121908140 |
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750420 |
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs121434455 |
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750415 |
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs398123409 |
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) |
| Zellweger Syndrome Spectrum (due to PEX1) |
rs61750418 |
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) |
United States (USD)
Singapore (SGD)
Australia (AUD)
Canada (USD)
European Country (EUR)
Hong Kong (HKD)
India (USD)
Indonesia (IDR)
Iran (USD)
Iraq (USD)
Japan (JPY)
Myanmar (USD)
Oman (USD)
Qatar (USD)
Saudi Arabia (USD)
South Korea (USD)
Switzerland (CHF)
Taiwan (USD)
Turkey (USD)
UAE (USD)
United Kingdom (GBP)
International (USD)
