| 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) |
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