Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_002822 | Polymorphism | p.ALA111ASP | N/A |
Swiss-Prot | VAR_002828 | Polymorphism | p.ALA116ASP | N/A |
Swiss-Prot | VAR_002730 | Polymorphism | p.ALA13ASP | N/A |
Swiss-Prot | VAR_002842 | Polymorphism | p.ALA131ASP | N/A |
Swiss-Prot | VAR_002737 | Polymorphism | p.ALA20ASP | N/A |
Swiss-Prot | VAR_002741 | Polymorphism | p.ALA22ASP | N/A |
Swiss-Prot | VAR_002772 | Polymorphism | p.ALA54ASP | N/A |
Swiss-Prot | VAR_002721 | Polymorphism | p.ALA6ASP | N/A |
Swiss-Prot | VAR_002785 | Polymorphism | p.ALA64ASP | N/A |
Swiss-Prot | VAR_002803 | Polymorphism | p.ALA83ASP | N/A |
Swiss-Prot | VAR_002833 | Polymorphism | p.ALA121GLU | N/A |
Swiss-Prot | VAR_002738 | Polymorphism | p.ALA20GLU | N/A |
Swiss-Prot | VAR_002747 | Polymorphism | p.ALA27GLU | N/A |
Swiss-Prot | VAR_002788 | Polymorphism | p.ALA72GLU | N/A |
Swiss-Prot | VAR_012662 | Polymorphism | p.ALA80GLY | N/A |
Swiss-Prot | VAR_002841 | Polymorphism | p.ALA131PRO | N/A |
Swiss-Prot | VAR_038150 | Polymorphism | p.ALA14PRO | N/A |
Swiss-Prot | VAR_002742 | Polymorphism | p.ALA22PRO | N/A |
Swiss-Prot | VAR_002722 | Polymorphism | p.ALA6PRO | N/A |
Swiss-Prot | VAR_002810 | Polymorphism | p.ALA89SER | N/A |
Swiss-Prot | VAR_025387 | Polymorphism | p.ALA27VAL | N/A |
Swiss-Prot | VAR_002789 | Polymorphism | p.ALA72VAL | N/A |
Swiss-Prot | VAR_002852 | Polymorphism | p.ARG142CYS | N/A |
Swiss-Prot | VAR_002813 | Polymorphism | p.ARG93GLN | N/A |
Swiss-Prot | VAR_002854 | Polymorphism | p.ARG142HIS | N/A |
Swiss-Prot | VAR_002853 | Polymorphism | p.ARG142LEU | N/A |
Swiss-Prot | VAR_025002 | Polymorphism | p.ARG32LYS | N/A |
Swiss-Prot | VAR_002855 | Polymorphism | p.ARG142PRO | N/A |
Swiss-Prot | VAR_002752 | Polymorphism | p.ARG32SER | N/A |
Swiss-Prot | VAR_020775 | Polymorphism | p.ARG93TRP | N/A |
Swiss-Prot | VAR_002799 | Polymorphism | p.ASN79HIS | N/A |
Swiss-Prot | VAR_002787 | Polymorphism | p.ASN69LYS | N/A |
Swiss-Prot | VAR_002800 | Polymorphism | p.ASN79LYS | N/A |
Swiss-Prot | VAR_002817 | Polymorphism | p.ASN98LYS | N/A |
Swiss-Prot | VAR_038149 | Polymorphism | p.ASN10THR | N/A |
Swiss-Prot | VAR_002763 | Polymorphism | p.ASP48ALA | N/A |
Swiss-Prot | VAR_002723 | Polymorphism | p.ASP7ALA | N/A |
Swiss-Prot | VAR_002791 | Polymorphism | p.ASP75ALA | N/A |
Swiss-Prot | VAR_002794 | Polymorphism | p.ASP76ALA | N/A |
Swiss-Prot | VAR_025389 | Polymorphism | p.ASP95ALA | N/A |
Swiss-Prot | VAR_002725 | Polymorphism | p.ASP7ASN | N/A |
Swiss-Prot | VAR_002793 | Polymorphism | p.ASP75ASN | N/A |
Swiss-Prot | VAR_025392 | Polymorphism | p.ASP127GLY | N/A |
Swiss-Prot | VAR_002764 | Polymorphism | p.ASP48GLY | N/A |
Swiss-Prot | VAR_002724 | Polymorphism | p.ASP7GLY | N/A |
Swiss-Prot | VAR_002792 | Polymorphism | p.ASP75GLY | N/A |
Swiss-Prot | VAR_002765 | Polymorphism | p.ASP48HIS | N/A |
Swiss-Prot | VAR_002795 | Polymorphism | p.ASP76HIS | N/A |
Swiss-Prot | VAR_002838 | Polymorphism | p.ASP127TYR | N/A |
Swiss-Prot | VAR_002766 | Polymorphism | p.ASP48TYR | N/A |
Swiss-Prot | VAR_002786 | Polymorphism | p.ASP65TYR | N/A |
Swiss-Prot | VAR_002727 | Polymorphism | p.ASP7TYR | N/A |
Swiss-Prot | VAR_002806 | Polymorphism | p.ASP86TYR | N/A |
Swiss-Prot | VAR_002814 | Polymorphism | p.ASP95TYR | N/A |
Swiss-Prot | VAR_002837 | Polymorphism | p.ASP127VAL | N/A |
Swiss-Prot | VAR_002726 | Polymorphism | p.ASP7VAL | N/A |
Swiss-Prot | VAR_002805 | Polymorphism | p.ASP86VAL | N/A |
Swiss-Prot | VAR_002773 | Polymorphism | p.GLN55ARG | N/A |
Swiss-Prot | VAR_002829 | Polymorphism | p.GLU117ALA | N/A |
Swiss-Prot | VAR_002748 | Polymorphism | p.GLU28ASP | N/A |
Swiss-Prot | VAR_002744 | Polymorphism | p.GLU24GLY | N/A |
Swiss-Prot | VAR_002749 | Polymorphism | p.GLU28GLY | N/A |
Swiss-Prot | VAR_002745 | Polymorphism | p.GLU24LYS | N/A |
Swiss-Prot | VAR_002751 | Polymorphism | p.GLU31LYS | N/A |
Swiss-Prot | VAR_002750 | Polymorphism | p.GLU28VAL | N/A |
Swiss-Prot | VAR_002732 | Polymorphism | p.GLY16ARG | N/A |
Swiss-Prot | VAR_002736 | Polymorphism | p.GLY19ARG | N/A |
Swiss-Prot | VAR_002771 | Polymorphism | p.GLY52ARG | N/A |
Swiss-Prot | VAR_002776 | Polymorphism | p.GLY58ARG | N/A |
Swiss-Prot | VAR_002735 | Polymorphism | p.GLY19ASP | N/A |
Swiss-Prot | VAR_002743 | Polymorphism | p.GLY23ASP | N/A |
Swiss-Prot | VAR_002770 | Polymorphism | p.GLY52ASP | N/A |
Swiss-Prot | VAR_002778 | Polymorphism | p.GLY60ASP | N/A |
Swiss-Prot | VAR_002779 | Polymorphism | p.GLY60VAL | N/A |
Swiss-Prot | VAR_002820 | Polymorphism | p.HIS104ARG | N/A |
Swiss-Prot | VAR_002740 | Polymorphism | p.HIS21ARG | N/A |
Swiss-Prot | VAR_002762 | Polymorphism | p.HIS46ARG | N/A |
Swiss-Prot | VAR_002769 | Polymorphism | p.HIS51ARG | N/A |
Swiss-Prot | VAR_002790 | Polymorphism | p.HIS73ARG | N/A |
Swiss-Prot | VAR_002809 | Polymorphism | p.HIS88ARG | N/A |
Swiss-Prot | VAR_002808 | Polymorphism | p.HIS88ASN | N/A |
Swiss-Prot | VAR_002823 | Polymorphism | p.HIS113ASP | N/A |
Swiss-Prot | VAR_002835 | Polymorphism | p.HIS123GLN | N/A |
Swiss-Prot | VAR_002739 | Polymorphism | p.HIS21GLN | N/A |
Swiss-Prot | VAR_002761 | Polymorphism | p.HIS46GLN | N/A |
Swiss-Prot | VAR_025388 | Polymorphism | p.HIS59GLN | N/A |
Swiss-Prot | VAR_025390 | Polymorphism | p.HIS104TYR | N/A |
Swiss-Prot | VAR_002777 | Polymorphism | p.HIS59TYR | N/A |
Swiss-Prot | VAR_002821 | Polymorphism | p.LEU110ARG | N/A |
Swiss-Prot | VAR_025391 | Polymorphism | p.LEU126ARG | N/A |
Swiss-Prot | VAR_035242 | Polymorphism | p.LEU137ARG | N/A |
Swiss-Prot | VAR_002720 | Polymorphism | p.LEU3ARG | N/A |
Swiss-Prot | VAR_002753 | Polymorphism | p.LEU35ARG | N/A |
Swiss-Prot | VAR_002767 | Polymorphism | p.LEU49ARG | N/A |
Swiss-Prot | VAR_002801 | Polymorphism | p.LEU81ARG | N/A |
Swiss-Prot | VAR_002807 | Polymorphism | p.LEU87ARG | N/A |
Swiss-Prot | VAR_002824 | Polymorphism | p.LEU114HIS | N/A |
Swiss-Prot | VAR_002846 | Polymorphism | p.LEU137MET | N/A |
Swiss-Prot | VAR_049272 | Polymorphism | p.LEU92PHE | N/A |
Swiss-Prot | VAR_002836 | Polymorphism | p.LEU126PRO | N/A |
Swiss-Prot | VAR_002840 | Polymorphism | p.LEU130PRO | N/A |
Swiss-Prot | VAR_002847 | Polymorphism | p.LEU137PRO | N/A |
Swiss-Prot | VAR_002812 | Polymorphism | p.LEU92PRO | N/A |
Swiss-Prot | VAR_002774 | Polymorphism | p.LYS57ARG | N/A |
Swiss-Prot | VAR_002839 | Polymorphism | p.LYS128ASN | N/A |
Swiss-Prot | VAR_002734 | Polymorphism | p.LYS17ASN | N/A |
Swiss-Prot | VAR_002780 | Polymorphism | p.LYS61ASN | N/A |
Swiss-Prot | VAR_002782 | Polymorphism | p.LYS62ASN | N/A |
Swiss-Prot | VAR_002818 | Polymorphism | p.LYS100GLU | N/A |
Swiss-Prot | VAR_002729 | Polymorphism | p.LYS12GLU | N/A |
Swiss-Prot | VAR_002849 | Polymorphism | p.LYS140GLU | N/A |
Swiss-Prot | VAR_002728 | Polymorphism | p.LYS8GLU | N/A |
Swiss-Prot | VAR_002733 | Polymorphism | p.LYS17MET | N/A |
Swiss-Prot | VAR_002756 | Polymorphism | p.LYS41MET | N/A |
Swiss-Prot | VAR_002811 | Polymorphism | p.LYS91MET | N/A |
Swiss-Prot | VAR_002850 | Polymorphism | p.LYS140THR | N/A |
Swiss-Prot | VAR_002775 | Polymorphism | p.LYS57THR | N/A |
Swiss-Prot | VAR_002783 | Polymorphism | p.LYS62THR | N/A |
Swiss-Prot | VAR_002796 | Polymorphism | p.MET77LYS | N/A |
Swiss-Prot | VAR_002797 | Polymorphism | p.MET77THR | N/A |
Swiss-Prot | VAR_002758 | Polymorphism | p.PHE44LEU | N/A |
Swiss-Prot | VAR_002815 | Polymorphism | p.PRO96ALA | N/A |
Swiss-Prot | VAR_002826 | Polymorphism | p.PRO115ARG | N/A |
Swiss-Prot | VAR_002754 | Polymorphism | p.PRO38ARG | N/A |
Swiss-Prot | VAR_002760 | Polymorphism | p.PRO45ARG | N/A |
Swiss-Prot | VAR_002798 | Polymorphism | p.PRO78ARG | N/A |
Swiss-Prot | VAR_002825 | Polymorphism | p.PRO115LEU | N/A |
Swiss-Prot | VAR_002759 | Polymorphism | p.PRO45LEU | N/A |
Swiss-Prot | VAR_002827 | Polymorphism | p.PRO115SER | N/A |
Swiss-Prot | VAR_002816 | Polymorphism | p.PRO96THR | N/A |
Swiss-Prot | VAR_002819 | Polymorphism | p.SER103ARG | N/A |
Swiss-Prot | VAR_002844 | Polymorphism | p.SER134ARG | N/A |
Swiss-Prot | VAR_002768 | Polymorphism | p.SER50ARG | N/A |
Swiss-Prot | VAR_002804 | Polymorphism | p.SER85ARG | N/A |
Swiss-Prot | VAR_002802 | Polymorphism | p.SER82CYS | N/A |
Swiss-Prot | VAR_002843 | Polymorphism | p.SER132PRO | N/A |
Swiss-Prot | VAR_002848 | Polymorphism | p.SER139PRO | N/A |
Swiss-Prot | VAR_002757 | Polymorphism | p.THR42SER | N/A |
Swiss-Prot | VAR_002731 | Polymorphism | p.TRP15ARG | N/A |
Swiss-Prot | VAR_002851 | Polymorphism | p.TYR141HIS | N/A |
Swiss-Prot | VAR_002746 | Polymorphism | p.TYR25HIS | N/A |
Swiss-Prot | VAR_002845 | Polymorphism | p.VAL136GLU | N/A |
Swiss-Prot | VAR_002719 | Polymorphism | p.VAL2GLU | N/A |
Swiss-Prot | VAR_002834 | Polymorphism | p.VAL122MET | N/A |
Swiss-Prot | VAR_002784 | Polymorphism | p.VAL63MET | N/A |
Swiss-Prot | VAR_014605 | Polymorphism | p.VAL11PHE | N/A |
OMIM | 141800.0117 | Disease | p.ALA110ASP | HEMOGLOBIN PETAH TIKVA |
OMIM | 141800.0077 | Disease | p.ALA115ASP | HEMOGLOBIN J (TONGARIKI) |
OMIM | 141800.0070 | Disease | p.ALA12ASP | HEMOGLOBIN J (PARIS 1)||HEMOGLOBIN J (ALJEZUR) |
OMIM | 141800.0179 | Disease | p.ALA130ASP | HEMOGLOBIN YUDA |
OMIM | 141800.0066 | Disease | p.ALA19ASP | HEMOGLOBIN J (KUROSH) |
OMIM | 141800.0068 | Disease | p.ALA21ASP | HEMOGLOBIN J (NYANZA) |
OMIM | 141800.0078 | Disease | p.ALA5ASP | HEMOGLOBIN J (TORONTO) |
OMIM | 141800.0072 | Disease | p.ALA53ASP | HEMOGLOBIN J (ROVIGO) |
OMIM | 141800.0118 | Disease | p.ALA63ASP | HEMOGLOBIN PONTOISE||HEMOGLOBIN J (PONTOISE) |
OMIM | 141800.0044 | Disease | p.ALA82ASP | HEMOGLOBIN GARDEN STATE |
OMIM | 141800.0060 | Disease | p.ALA120GLU | HEMOGLOBIN J (BIRMINGHAM)||HEMOGLOBIN J (MEERUT) |
OMIM | 141800.0076 | Disease | p.ALA19GLU | HEMOGLOBIN J (TASHIKUERGAN) |
OMIM | 141800.0132 | Disease | p.ALA26GLU | HEMOGLOBIN SHENYANG |
OMIM | 141800.0065 | Disease | p.ALA71GLU | HEMOGLOBIN J (HABANA) |
OMIM | 141800.0075 | Disease | p.ALA79GLY | HEMOGLOBIN J (SINGAPORE) |
OMIM | 141800.0033 | Disease | p.ALA21PRO | HEMOGLOBIN FONTAINEBLEAU |
OMIM | 141800.0080 | Disease | p.ALA5PRO | HEMOGLOBIN KARACHI |
OMIM | 141800.0190 | Disease | p.ALA123SER | HEMOGLOBIN MALHACEN |
OMIM | 141800.0090 | Disease | p.ALA88SER | HEMOGLOBIN LOIRE |
OMIM | 141800.0162 | Disease | p.ALA110THR | HEMOGLOBIN TONOSHO |
OMIM | 141800.0195 | Disease | p.ALA111THR | HEMOGLOBIN MOSELLA |
OMIM | 141800.0194 | Disease | p.ALA79THR | HEMOGLOBIN MANTES-LA-JOLIE |
OMIM | 141800.0193 | Disease | p.ALA65VAL | HEMOGLOBIN BOIS GUILLAUME |
OMIM | 141800.0173 | Disease | p.ALA71VAL | HEMOGLOBIN OZIERI |
OMIM | 141800.0109 | Disease | p.ARG141CYS | HEMOGLOBIN NUNOBIKI |
OMIM | 141800.0063 | Disease | p.ARG92GLN | HEMOGLOBIN J (CAPE TOWN) |
OMIM | 141800.0062 | Disease | p.ARG141GLY | HEMOGLOBIN J (CAMAGUEY) |
OMIM | 141800.0144 | Disease | p.ARG141HIS | HEMOGLOBIN SURESNES |
OMIM | 141800.0087 | Disease | p.ARG141LEU | HEMOGLOBIN LEGNANO |
OMIM | 141800.0018 | Disease | p.ARG92LEU | HEMOGLOBIN CHESAPEAKE |
OMIM | 141800.0135 | Disease | p.ARG141PRO | HEMOGLOBIN SINGAPORE |
OMIM | 141800.0064 | Disease | p.ARG141SER | HEMOGLOBIN J (CUBUJUQUI) |
OMIM | 141800.0185 | Disease | p.ARG92TRP | HEMOGLOBIN CEMENELUM |
OMIM | 141800.0154 | Disease | p.ASN68ASP | HEMOGLOBIN UBE-2 |
OMIM | 141800.0074 141800.0075 | Disease | p.ASN78ASP | HEMOGLOBIN J (SINGAPORE) |
OMIM | 141800.0197 | Disease | p.ASN97HIS | HEMOGLOBIN FUCHU-II |
OMIM | 141800.0139 | Disease | p.ASN78LYS | HEMOGLOBIN STANLEYVILLE-II |
OMIM | 141800.0208 | Disease | p.ASN9LYS | HEMOGLOBIN DELFZICHT |
OMIM | 141800.0025 | Disease | p.ASN97LYS | HEMOGLOBIN DALLAS |
OMIM | 141800.0023 | Disease | p.ASP47ALA | HEMOGLOBIN CORDELE |
OMIM | 141800.0128 | Disease | p.ASP6ALA | HEMOGLOBIN SAWARA |
OMIM | 141800.0089 | Disease | p.ASP74ALA | HEMOGLOBIN LILLE |
OMIM | 141800.0028 | Disease | p.ASP75ALA | HEMOGLOBIN DUAN |
OMIM | 141800.0005 | Disease | p.ASP47ASN | HEMOGLOBIN ARYA |
OMIM | 141800.0029 | Disease | p.ASP6ASN | HEMOGLOBIN DUNN |
OMIM | 141800.0043 | Disease | p.ASP64ASN | HEMOGLOBIN G (WAIMANALO)||HEMOGLOBIN AIDA |
OMIM | 141800.0041 | Disease | p.ASP74ASN | HEMOGLOBIN G (PEST) |
OMIM | 141800.0095 | Disease | p.ASP75ASN | HEMOGLOBIN MATSUE-OKI |
OMIM | 141800.0040 | Disease | p.ASP85ASN | HEMOGLOBIN G (NORFOLK) |
OMIM | 141800.0148 | Disease | p.ASP94ASN | HEMOGLOBIN TITUSVILLE |
OMIM | 141800.0189 | Disease | p.ASP94GLU | HEMOGLOBIN ROANNE |
OMIM | 141800.0084 | Disease | p.ASP47GLY | HEMOGLOBIN KOKURA||HEMOGLOBIN BEILINSON;;||HEMOGLOBIN MICHIGAN-I;;||HEMOGLOBIN MICHIGAN-II;;||HEMOGLOBIN L (GASLINI);;|| |
OMIM | 141800.0145 | Disease | p.ASP6GLY | HEMOGLOBIN SWAN RIVER |
OMIM | 141800.0046 | Disease | p.ASP64GLY | HEMOGLOBIN GUANGZHOU||HEMOGLOBIN HANGZHOU |
OMIM | 141800.0017 | Disease | p.ASP74GLY | HEMOGLOBIN CHAPEL HILL |
OMIM | 141800.0100 | Disease | p.ASP75GLY | HEMOGLOBIN MIZUSHI |
OMIM | 141800.0180 | Disease | p.ASP94GLY | HEMOGLOBIN CAPA |
OMIM | 141800.0126 | Disease | p.ASP126HIS | HEMOGLOBIN SASSARI |
OMIM | 141800.0121 | Disease | p.ASP64HIS | HEMOGLOBIN Q (INDIA) |
OMIM | 141800.0042 | Disease | p.ASP74HIS | HEMOGLOBIN G (TAICHUNG)||HEMOGLOBIN Q;;||HEMOGLOBIN Q (THAILAND);;||HEMOGLOBIN MAHIDOL;;||HEMOGLOBIN ASABARA;;||HEMOGLOB |
OMIM | 141800.0122 | Disease | p.ASP75HIS | HEMOGLOBIN Q (IRAN) |
OMIM | 141800.0143 | Disease | p.ASP94HIS | HEMOGLOBIN SUNSHINE SETH |
OMIM | 141800.0181 | Disease | p.ASP126TYR | HEMOGLOBIN MONTEFIORE |
OMIM | 141800.0158 | Disease | p.ASP6TYR | HEMOGLOBIN WOODVILLE |
OMIM | 141800.0116 | Disease | p.ASP64TYR | HEMOGLOBIN PERSPOLIS |
OMIM | 141800.0157 | Disease | p.ASP75TYR | HEMOGLOBIN WINNIPEG |
OMIM | 141800.0006 | Disease | p.ASP85TYR | HEMOGLOBIN ATAGO |
OMIM | 141800.0130 | Disease | p.ASP94TYR | HEMOGLOBIN SETIF |
OMIM | 141800.0163 | Disease | p.ASP126VAL | HEMOGLOBIN FUKUTOMI |
OMIM | 141800.0032 | Disease | p.ASP6VAL | HEMOGLOBIN FERNDOWN |
OMIM | 141800.0217 | Disease | p.CYS104SER | HEMOGLOBIN OEGSTGEEST |
OMIM | 141800.0133 | Disease | p.GLN54ARG | HEMOGLOBIN SHIMONOSEKI||HEMOGLOBIN HIKOSHIMA |
OMIM | 141800.0097 | Disease | p.GLN54GLU | HEMOGLOBIN MEXICO||HEMOGLOBIN J;;||HEMOGLOBIN J (MEXICO);;||HEMOGLOBIN J (PARIS 2);;||HEMOGLOBIN UPPSALA |
OMIM | 141800.0155 | Disease | p.GLU116ALA | HEMOGLOBIN UBE-4 |
OMIM | 141800.0188 | Disease | p.GLU23ASP | HEMOGLOBIN LISBON |
OMIM | 141800.0051 | Disease | p.GLU27ASP | HEMOGLOBIN HEKINAN |
OMIM | 141800.0113 | Disease | p.GLU116GLN | HEMOGLOBIN OLEANDER |
OMIM | 141800.0096 | Disease | p.GLU23GLN | HEMOGLOBIN MEMPHIS |
OMIM | 141800.0124 | Disease | p.GLU23GLY | HEMOGLOBIN REIMS |
OMIM | 141800.0037 | Disease | p.GLU27GLY | HEMOGLOBIN G (FORT WORTH)||HEMOGLOBIN FORT WORTH |
OMIM | 141800.0110 | Disease | p.GLU116LYS | HEMOGLOBIN O (INDONESIA)||HEMOGLOBIN O (BUGINESE-X);;||HEMOGLOBIN BUGINESE-X;;||HEMOGLOBIN O (OLIVIERE);;||HEMOGLOBIN OL |
OMIM | 141800.0016 | Disease | p.GLU23LYS | HEMOGLOBIN CHAD |
OMIM | 141800.0134 | Disease | p.GLU27LYS | HEMOGLOBIN SHUANGFENG |
OMIM | 141800.0111 | Disease | p.GLU30LYS | HEMOGLOBIN O (PADOVA) |
OMIM | 141800.0035 | Disease | p.GLU23VAL | HEMOGLOBIN G (AUDHALI) |
OMIM | 141800.0114 | Disease | p.GLY15ARG | HEMOGLOBIN OTTAWA||HEMOGLOBIN SIAM |
OMIM | 141800.0049 | Disease | p.GLY18ARG | HEMOGLOBIN HANDSWORTH |
OMIM | 141800.0125 | Disease | p.GLY51ARG | HEMOGLOBIN RUSS |
OMIM | 141800.0086 | Disease | p.GLY57ARG | HEMOGLOBIN L (PERSIAN GULF) |
OMIM | 141800.0175 | Disease | p.GLY18ASP | HEMOGLOBIN AL-AIN ABU DHABI |
OMIM | 141800.0067 | Disease | p.GLY22ASP | HEMOGLOBIN J (MEDELLIN) |
OMIM | 141800.0058 | Disease | p.GLY51ASP | HEMOGLOBIN J (ABIDJAN) |
OMIM | 141800.0107 | Disease | p.GLY57ASP | HEMOGLOBIN NORFOLK||HEMOGLOBIN J (NORFOLK);;||HEMOGLOBIN KAGOSHIMA;;||HEMOGLOBIN NISHIK |
OMIM | 141800.0174 | Disease | p.GLY59ASP | HEMOGLOBIN ADANA||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141800.0216 | Disease | p.GLY51SER | HEMOGLOBIN RICCARTON |
OMIM | 141800.0151 | Disease | p.GLY59VAL | HEMOGLOBIN TOTTORI |
OMIM | 141800.0022 | Disease | p.HIS103ARG | HEMOGLOBIN CONTALDO |
OMIM | 141800.0140 | Disease | p.HIS112ARG | HEMOGLOBIN STRUMICA||HEMOGLOBIN SERBIA |
OMIM | 141800.0053 | Disease | p.HIS20ARG | HEMOGLOBIN HOBART |
OMIM | 141800.0034 | Disease | p.HIS45ARG | HEMOGLOBIN FORT DE FRANCE |
OMIM | 141800.0001 | Disease | p.HIS50ARG | HEMOGLOBIN AICHI |
OMIM | 141800.0026 | Disease | p.HIS72ARG | HEMOGLOBIN DANESHGAH-TEHRAN |
OMIM | 141800.0057 | Disease | p.HIS87ARG | HEMOGLOBIN IWATA |
OMIM | 141800.0215 | Disease | p.HIS89ARG | HEMOGLOBIN TAMANO |
OMIM | 141800.0220 | Disease | p.HIS87ASN | HEMOGLOBIN AUCKLAND |
OMIM | 141800.0054 | Disease | p.HIS112ASP | HEMOGLOBIN HOPKINS 2 |
OMIM | 141800.0176 | Disease | p.HIS45ASP | HEMOGLOBIN POITIERS |
OMIM | 141800.0156 | Disease | p.HIS122GLN | HEMOGLOBIN WESTMEAD |
OMIM | 141800.0088 | Disease | p.HIS20GLN | HEMOGLOBIN LE LAMENTIN |
OMIM | 141800.0009 | Disease | p.HIS45GLN | HEMOGLOBIN BARI |
OMIM | 141800.0198 | Disease | p.HIS72GLN | HEMOGLOBIN GOUDA |
OMIM | 141800.0212 | Disease | p.HIS89GLN | HEMOGLOBIN BUFFALO |
OMIM | 141800.0172 | Disease | p.HIS89LEU | HEMOGLOBIN LUTON |
OMIM | 141800.0201 | Disease | p.HIS45PRO | HEMOGLOBIN OITA |
OMIM | 141800.0214 | Disease | p.HIS89PRO | HEMOGLOBIN TOKYO |
OMIM | 141800.0203 | Disease | p.HIS103TYR | HEMOGLOBIN CHAROLLES |
OMIM | 141800.0104 | Disease | p.HIS20TYR | HEMOGLOBIN NECKER ENFANTS-MALADES |
OMIM | 141800.0092 | Disease | p.HIS58TYR | HEMOGLOBIN M (BOSTON)||HEMOGLOBIN GOTHENBURG;;||HEMOGLOBIN M (GOTHENBURG);;||HEMOGLOBIN M (OSAKA);;||HEMOGLOBIN M (KISKU |
OMIM | 141800.0196 | Disease | p.HIS72TYR | HEMOGLOBIN FUCHU-I |
OMIM | 141800.0093 | Disease | p.HIS87TYR | HEMOGLOBIN M (IWATE)||HEMOGLOBIN M (KANKAKEE);;||HEMOGLOBIN M (OLDENBURG);;||HEMOGLOBIN M (SENDAI) |
OMIM | 141800.0213 | Disease | p.HIS89TYR | HEMOGLOBIN VILLEURBANNE |
OMIM | 141800.0152 | Disease | p.LEU136ARG | HEMOGLOBIN TOYAMA||HEINZ BODY HEMOLYTIC ANEMIA |
OMIM | 141800.0021 | Disease | p.LEU2ARG | HEMOGLOBIN CHONGQING |
OMIM | 141800.0112 | Disease | p.LEU34ARG | HEMOGLOBIN OGI||HEMOGLOBIN QUEENS |
OMIM | 141800.0004 | Disease | p.LEU80ARG | HEMOGLOBIN ANN ARBOR |
OMIM | 141800.0101 | Disease | p.LEU86ARG | HEMOGLOBIN MOABIT |
OMIM | 141800.0153 | Disease | p.LEU113HIS | HEMOGLOBIN TWIN PEAKS |
OMIM | 141800.0020 | Disease | p.LEU136MET | HEMOGLOBIN CHICAGO |
OMIM | 141800.0191 | Disease | p.LEU129PRO | HEMOGLOBIN TUNIS-BIZERTE |
OMIM | 141800.0011 | Disease | p.LEU136PRO | HEMOGLOBIN BIBBA |
OMIM | 141800.0119 | Disease | p.LEU91PRO | HEMOGLOBIN PORT PHILLIP |
OMIM | 141800.0164 | Disease | p.LYS56ARG | HEMOGLOBIN PORT HURON |
OMIM | 141800.0002 | Disease | p.LYS11ASN | HEMOGLOBIN ALBANY-GEORGIA||HEMOGLOBIN ALBANY-SUMA |
OMIM | 141800.0079 | Disease | p.LYS127ASN | HEMOGLOBIN JACKSON |
OMIM | 141800.0010 | Disease | p.LYS16ASN | HEMOGLOBIN BEIJING |
OMIM | 141800.0209 | Disease | p.LYS40ASN | HEMOGLOBIN SARATOGA SPRINGS |
OMIM | 141800.0161 | Disease | p.LYS56ASN | HEMOGLOBIN BELLIARD |
OMIM | 141800.0160 | Disease | p.LYS60ASN | HEMOGLOBIN ZAMBIA |
OMIM | 141800.0187 | Disease | p.LYS7ASN | HEMOGLOBIN TATRAS |
OMIM | 141800.0014 | Disease | p.LYS90ASN | HEMOGLOBIN BROUSSAIS||HEMOGLOBIN J (BROUSSAIS);;||HEMOGLOBIN TAGAWA I |
OMIM | 141800.0211 | Disease | p.LYS99ASN | HEMOGLOBIN BEZIERS |
OMIM | 141800.0159 | Disease | p.LYS11GLN | HEMOGLOBIN WUMING||HEMOGLOBIN J (WENCHANG-WUMING) |
OMIM | 141800.0003 | Disease | p.LYS11GLU | HEMOGLOBIN ANANTHARAJ |
OMIM | 141800.0055 | Disease | p.LYS16GLU | HEMOGLOBIN I||HEMOGLOBIN I (BURLINGTON);;||HEMOGLOBIN I (PHILADELPHIA);;||HEMOGLOBIN I (SKAMANIA);;||HEMOGLOBIN I (TEXAS |
OMIM | 141800.0081 | Disease | p.LYS40GLU | HEMOGLOBIN KARIYA |
OMIM | 141800.0131 | Disease | p.LYS56GLU | HEMOGLOBIN SHAARE ZEDEK |
OMIM | 141800.0024 | Disease | p.LYS60GLU | HEMOGLOBIN DAGESTAN |
OMIM | 141800.0170 | Disease | p.LYS99GLU | HEMOGLOBIN TURRIFF |
OMIM | 141800.0050 | Disease | p.LYS16MET | HEMOGLOBIN HARBIN |
OMIM | 141800.0169 | Disease | p.LYS40MET | HEMOGLOBIN KANAGAWA |
OMIM | 141800.0048 | Disease | p.LYS90MET | HEMOGLOBIN HANDA||HEMOGLOBIN MUNAKATA |
OMIM | 141800.0137 | Disease | p.LYS127THR | HEMOGLOBIN ST. CLAUDE |
OMIM | 141800.0149 | Disease | p.LYS139THR | HEMOGLOBIN TOKONAME |
OMIM | 141800.0147 | Disease | p.LYS56THR | HEMOGLOBIN THAILAND |
OMIM | 141800.0059 | Disease | p.LYS61THR | HEMOGLOBIN J (ANATOLIA) |
OMIM | 141800.0071 | Disease | p.LYS90THR | HEMOGLOBIN J (RAJAPPEN) |
OMIM | 141800.0106 | Disease | p.MET76LYS | HEMOGLOBIN NOKO |
OMIM | 141800.0008 | Disease | p.MET76THR | HEMOGLOBIN AZTEC |
OMIM | 141800.0052 | Disease | p.PHE43LEU | HEMOGLOBIN HIROSAKI |
OMIM | 141800.0150 | Disease | p.PHE43VAL | HEMOGLOBIN TORINO |
OMIM | 141800.0027 | Disease | p.PRO95ALA | HEMOGLOBIN DENMARK HILL |
OMIM | 141800.0019 | Disease | p.PRO114ARG | HEMOGLOBIN CHIAPAS |
OMIM | 141800.0012 | Disease | p.PRO37ARG | HEMOGLOBIN BOURMEDES |
OMIM | 141800.0082 | Disease | p.PRO44ARG | HEMOGLOBIN KAWACHI |
OMIM | 141800.0047 | Disease | p.PRO77ARG | HEMOGLOBIN GUIZHOU||HEMOGLOBIN UTSUNOMIYA |
OMIM | 141800.0138 | Disease | p.PRO95ARG | HEMOGLOBIN ST. LUKE'S |
OMIM | 141800.0108 | Disease | p.PRO114LEU | HEMOGLOBIN NOUAKCHOTT |
OMIM | 141800.0098 | Disease | p.PRO44LEU | HEMOGLOBIN MILLEDGEVILLE |
OMIM | 141800.0038 | Disease | p.PRO95LEU | HEMOGLOBIN G (GEORGIA) |
OMIM | 141800.0183 | Disease | p.PRO114SER | HEMOGLOBIN MELUSINE |
OMIM | 141800.0200 | Disease | p.PRO95THR | HEMOGLOBIN GODAVARI |
OMIM | 141800.0127 | Disease | p.SER49ARG | HEMOGLOBIN SAVARIA |
OMIM | 141800.0030 | Disease | p.SER84ARG | HEMOGLOBIN ETOBICOKE |
OMIM | 141800.0105 | Disease | p.SER81CYS | HEMOGLOBIN NIGERIA |
OMIM | 141800.0205 | Disease | p.SER3PHE | HEMOGLOBIN DOUALA |
OMIM | 141800.0167 | Disease | p.SER131PRO | HEMOGLOBIN QUESTEMBERT |
OMIM | 141800.0007 | Disease | p.SER138PRO | HEMOGLOBIN ATTLEBORO |
OMIM | 141800.0099 | Disease | p.THR41SER | HEMOGLOBIN MIYANO |
OMIM | 141800.0031 | Disease | p.TRP14ARG | HEMOGLOBIN EVANSTON |
OMIM | 141800.0186 | Disease | p.TYR24CYS | HEMOGLOBIN RAMONA |
OMIM | 141800.0182 | Disease | p.TYR140HIS | HEMOGLOBIN ROUEN||HEMOGLOBIN ETHIOPIA |
OMIM | 141800.0091 | Disease | p.TYR24HIS | HEMOGLOBIN LUXEMBOURG |
OMIM | 141800.0210 | Disease | p.VAL93ALA | HEMOGLOBIN DIE |
OMIM | 141800.0166 | Disease | p.VAL135GLU | HEMOGLOBIN PAVIE |
OMIM | 141800.0178 | Disease | p.VAL132GLY | HEMOGLOBIN CAEN |
OMIM | 141800.0204 | Disease | p.VAL55LEU | HEMOGLOBIN ROUBAIX |
OMIM | 141800.0115 | Disease | p.VAL121MET | HEMOGLOBIN OWARI |
OMIM | 141850.0017 | Disease | p.ALA130PRO | HEMOGLOBIN SUN PRAIRIE |
OMIM | 141850.0060 | Disease | p.ALA65THR | HEMOGLOBIN PART-DIEU |
OMIM | 141850.0061 | Disease | p.ALA69THR | HEMOGLOBIN DECINES-CHARPIEU |
OMIM | 141850.0029 | Disease | p.ALA111VAL | HEMOGLOBIN ANAMOSA |
OMIM | 141850.0041 | Disease | p.ALA26VAL | HEMOGLOBIN CAMPINAS |
OMIM | 141850.0016 | Disease | p.ALA88VAL | HEMOGLOBIN COLUMBIA MISSOURI |
OMIM | 141850.0055 | Disease | p.ARG31SER | HEMOGLOBIN PRATO |
OMIM | 141850.0019 | Disease | p.ASN78HIS | HEMOGLOBIN DAVENPORT |
OMIM | 141850.0014 | Disease | p.ASN68LYS | HEMOGLOBIN G (BRISTOL)||HEMOGLOBIN D (BALTIMORE);;||HEMOGLOBIN D (ST. LOUIS);;||HEMOGLOBIN D (WASHINGTON);;||HEMOGLOBIN |
OMIM | 141850.0048 | Disease | p.ASN9LYS | HEMOGLOBIN PARK RIDGE |
OMIM | 141850.0037 | Disease | p.ASP126ASN | HEMOGLOBIN TARRANT |
OMIM | 141850.0012 | Disease | p.ASP47HIS | HEMOGLOBIN L (FERRARA)||HEMOGLOBIN HASHARON;;||HEMOGLOBIN SINAI;;||HEMOGLOBIN SEALY |
OMIM | 141850.0025 | Disease | p.ASP47TYR | HEMOGLOBIN KURDISTAN |
OMIM | 141850.0070 | Disease | p.ASP75VAL | HEMOGLOBIN AL-HAMMADI RIYADH |
OMIM | 141850.0015 | Disease | p.ASP85VAL | HEMOGLOBIN INKSTER |
OMIM | 141850.0031 | Disease | p.CYS104TYR | HEMOGLOBIN SALLANCHES||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141850.0054 | Disease | p.GLU30GLN | HEMOGLOBIN G (HONOLULU)||HEMOGLOBIN G (HONG KONG);;||HEMOGLOBIN G (SINGAPORE);;||HEMOGLOBIN G (CHINESE) |
OMIM | 141850.0021 | Disease | p.GLU116TER | ALPHA-THALASSEMIA |
OMIM | 141850.0063 | Disease | p.GLU23TER | ALPHA-THALASSEMIA |
OMIM | 141850.0009 | Disease | p.GLU27VAL | HEMOGLOBIN SPANISH TOWN |
OMIM | 141850.0065 | Disease | p.GLY59ARG | HEMOGLOBIN ZURICH ALBISRIEDEN||ALPHA-PLUS-THALASSEMIA, INCLUDED |
OMIM | 141850.0010 | Disease | p.GLY15ASP | HEMOGLOBIN J (OXFORD)||HEMOGLOBIN I (INTERLAKEN);;||HEMOGLOBIN N (COSENZA) |
OMIM | 141850.0073 | Disease | p.GLY59ASP | HEMOGLOBIN H HYDROPS FETALIS SYNDROME |
OMIM | 141850.0064 | Disease | p.GLY22GLY | ALPHA-PLUS-THALASSEMIA |
OMIM | 141850.0042 | Disease | p.HIS20ASP | HEMOGLOBIN NIKAIA |
OMIM | 141850.0036 | Disease | p.HIS50ASP | HEMOGLOBIN J (SARDEGNA) |
OMIM | 141850.0049 | Disease | p.HIS72ASP | HEMOGLOBIN NORTON |
OMIM | 141850.0039 | Disease | p.HIS58GLN | HEMOGLOBIN BOGHE |
OMIM | 141850.0050 | Disease | p.HIS103TYR | HEMOGLOBIN LOMBARD |
OMIM | 141850.0007 | Disease | p.LEU109ARG | HEMOGLOBIN SUAN-DOK |
OMIM | 141850.0051 | Disease | p.LEU113ARG | HEMOGLOBIN SAN ANTONIO |
OMIM | 141850.0067 | Disease | p.LEU125ARG | HEMOGLOBIN PLASENCIA |
OMIM | 141850.0013 | Disease | p.LEU48ARG | HEMOGLOBIN MONTGOMERY||HEMOGLOBIN BIRMINGHAM (USA) |
OMIM | 141850.0005 | Disease | p.LEU125PRO | HEMOGLOBIN QUONG SZE |
OMIM | 141850.0030 | Disease | p.LEU136PRO | HEMOGLOBIN BIBBA |
OMIM | 141850.0026 | Disease | p.LEU29PRO | HEMOGLOBIN AGRINIO||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141850.0045 | Disease | p.LEU66PRO | HEMOGLOBIN DARTMOUTH |
OMIM | 141850.0035 | Disease | p.LEU80VAL | HEMOGLOBIN CONAKRY |
OMIM | 141850.0043 | Disease | p.LYS90ARG | HEMOGLOBIN CLINICO-MADRID |
OMIM | 141850.0004 141850.0059 | Disease | p.LYS139ASN | HEMOGLOBIN FUKUI |
OMIM | 141850.0008 | Disease | p.LYS61ASN | HEMOGLOBIN J (BUDA)||ERYTHROCYTOSIS |
OMIM | 141850.0023 | Disease | p.LYS139GLU | HEMOGLOBIN HANAMAKI |
OMIM | 141850.0011 | Disease | p.LYS16GLU | HEMOGLOBIN I||HEMOGLOBIN I (BURLINGTON);;||HEMOGLOBIN I (PHILADELPHIA);;||HEMOGLOBIN I (SKAMANIA);;||HEMOGLOBIN I (TEXAS |
OMIM | 141850.0068 | Disease | p.LYS7GLU | HEMOGLOBIN KUROSAKI |
OMIM | 141850.0020 | Disease | p.MET1THR | ALPHA-THALASSEMIA |
OMIM | 141850.0022 | Disease | p.MET1VAL | HEMOGLOBIN H DISEASE, NONDELETIONAL |
OMIM | 141850.0058 | Disease | p.PHE33SER | HEMOGLOBIN CHARTRES |
OMIM | 141850.0040 | Disease | p.PRO77HIS | HEMOGLOBIN TOULON |
OMIM | 141850.0053 | Disease | p.PRO37LEU | HEMOGLOBIN MANAWATU |
OMIM | 141850.0052 | Disease | p.PRO95SER | HEMOGLOBIN RAMPA |
OMIM | 141850.0047 | Disease | p.SER102ARG | HEMOGLOBIN MANITOBA |
OMIM | 141850.0062 | Disease | p.SER133ARG | HEMOGLOBIN VAL DE MARNE||HEMOGLOBIN FOOTSCRAY |
OMIM | 141850.0074 | Disease | p.SER35PRO | HEMOGLOBIN H HYDROPS FETALIS SYNDROME |
OMIM | 141850.0066 | Disease | p.SER81PRO | HEMOGLOBIN PASSY |
OMIM | 141850.0001 | Disease | p.TER142GLN | HEMOGLOBIN CONSTANT SPRING||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141850.0028 | Disease | p.TER142GLU | HEMOGLOBIN SEAL ROCK |
OMIM | 141850.0002 | Disease | p.TER142LYS | HEMOGLOBIN ICARIA||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141850.0003 | Disease | p.TER142SER | HEMOGLOBIN KOYA DORA |
OMIM | 141850.0027 | Disease | p.TER142TYR | HEMOGLOBIN PAKSE||HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED |
OMIM | 141850.0033 | Disease | p.TYR140TER | HEMOGLOBIN NATAL |
OMIM | 141850.0046 | Disease | p.VAL55ALA | HEMOGLOBIN GERLAND |
OMIM | 141850.0038 | Disease | p.VAL1GLY | HEMOGLOBIN ANTANANARIVO |
OMIM | 141850.0006 | Disease | p.VAL62MET | HEMOGLOBIN EVANS |