X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25012975C>A | CA515947094 | ARX | c.1020G>T (p.Leu340=)
| gnomAD v4 |
X | g.25012975C>G | CA515947096 | ARX | c.1020G>C (p.Leu340=)
| |
X | g.25012975C>T | CA515947095 | ARX | c.1020G>A (p.Leu340=)
| gnomAD v4 |
X | g.25012976A>C | CA412611939 | ARX | c.1019T>G (p.Leu340Arg)
| |
X | g.25012976A>G | CA412611941 | ARX | c.1019T>C (p.Leu340Pro)
| |
X | g.25012976A>T | CA412611940 | ARX | c.1019T>A (p.Leu340Gln)
| |
X | g.25012977G>A | CA515947097 | ARX | c.1018C>T (p.Leu340=)
| |
X | g.25012977G>C | CA412611942 | ARX | c.1018C>G (p.Leu340Val)
| |
X | g.25012977G>T | CA412611943 | ARX | c.1018C>A (p.Leu340Met)
| gnomAD v4 |
X | g.25012978C>A | CA412611944 | ARX | c.1017G>T (p.Gln339His)
| |
X | g.25012978C= | CA2420209074 | ARX | c.1017G= (p.Gln339=)
| |
X | g.25012978C>G | CA412611945 | ARX | c.1017G>C (p.Gln339His)
| ClinVar dbSNP |
X | g.25012978C>T | CA515947098 | ARX | c.1017G>A (p.Gln339=)
| ClinVar |
X | g.25012979T>A | CA412611946 | ARX | c.1016A>T (p.Gln339Leu)
| |
X | g.25012979T>C | CA412611947 | ARX | c.1016A>G (p.Gln339Arg)
| gnomAD v4 |
X | g.25012979T>G | CA412611948 | ARX | c.1016A>C (p.Gln339Pro)
| |
X | g.25012980G>A | CA412611951 | ARX | c.1015C>T (p.Gln339Ter)
| |
X | g.25012980G>C | CA412611949 | ARX | c.1015C>G (p.Gln339Glu)
| |
X | g.25012980G>T | CA412611950 | ARX | c.1015C>A (p.Gln339Lys)
| |
X | g.25012981G>A | CA515947099 | ARX | c.1014C>T (p.Tyr338=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012981G>C | CA412611952 | ARX | c.1014C>G (p.Tyr338Ter)
| |
X | g.25012981G= | CA2420209075 | ARX | c.1014C= (p.Tyr338=)
| |
X | g.25012981G>T | CA412611953 | ARX | c.1014C>A (p.Tyr338Ter)
| |
X | g.25012982T>A | CA412611954 | ARX | c.1013A>T (p.Tyr338Phe)
| |
X | g.25012982T>C | CA412611955 | ARX | c.1013A>G (p.Tyr338Cys)
| |
X | g.25012982T>G | CA412611956 | ARX | c.1013A>C (p.Tyr338Ser)
| |
X | g.25012982delinsGG | CA2695232858 | ARX | c.1013delinsCC (p.Tyr338SerfsTer?)
| |
X | g.25012983_25012986dup | CA2695232857 | ARX | c.1010_1013dup (p.Tyr338Ter)
| |
X | g.25012983A>C | CA412611957 | ARX | c.1012T>G (p.Tyr338Asp)
| |
X | g.25012983A>G | CA412611959 | ARX | c.1012T>C (p.Tyr338His)
| |
X | g.25012983A>T | CA412611958 | ARX | c.1012T>A (p.Tyr338Asn)
| |
X | g.25012984G>A | CA515947100 | ARX | c.1011C>T (p.Ser337=)
| |
X | g.25012984G>C | CA412611960 | ARX | c.1011C>G (p.Ser337Arg)
| |
X | g.25012984G>T | CA412611961 | ARX | c.1011C>A (p.Ser337Arg)
| |
X | g.25012985C>A | CA412611962 | ARX | c.1010G>T (p.Ser337Ile)
| |
X | g.25012985C>G | CA412611963 | ARX | c.1010G>C (p.Ser337Thr)
| |
X | g.25012985C>T | CA412611964 | ARX | c.1010G>A (p.Ser337Asn)
| gnomAD v4 |
X | g.25012986T>A | CA412611965 | ARX | c.1009A>T (p.Ser337Cys)
| |
X | g.25012986T>C | CA412611966 | ARX | c.1009A>G (p.Ser337Gly)
| gnomAD v4 |
X | g.25012986T>G | CA412611967 | ARX | c.1009A>C (p.Ser337Arg)
| |
X | g.25012991_25012999del | CA2695232859 | ARX | c.1001_1009del (p.Thr334_Thr336del)
| |
X | g.25012987G>A | CA515947101 | ARX | c.1008C>T (p.Thr336=)
| |
X | g.25012987G>C | CA515947102 | ARX | c.1008C>G (p.Thr336=)
| |
X | g.25012987G>T | CA515947103 | ARX | c.1008C>A (p.Thr336=)
| ClinVar dbSNP |
X | g.25012987_25012993delinsGGTGAAC | CA2420209076 | ARX | c.1002_1008delinsGTTCACC (p.Thr334=)
| |
X | g.25012988G>A | CA412611968 | ARX | c.1007C>T (p.Thr336Ile)
| |
X | g.25012988G>C | CA412611969 | ARX | c.1007C>G (p.Thr336Ser)
| |
X | g.25012988G>T | CA412611970 | ARX | c.1007C>A (p.Thr336Asn)
| |
X | g.25012988_25012993delinsTGGTACA | CA358357 | ARX | c.1002_1007delinsTGTACCA (p.Phe335ValfsTer?)
| ClinVar dbSNP |
X | g.25012989T>A | CA412611973 | ARX | c.1006A>T (p.Thr336Ser)
| |
X | g.25012989T>C | CA412611971 | ARX | c.1006A>G (p.Thr336Ala)
| |
X | g.25012989T>G | CA412611972 | ARX | c.1006A>C (p.Thr336Pro)
| |
X | g.25012990G>A | CA515947104 | ARX | c.1005C>T (p.Phe335=)
| ClinVar dbSNP gnomAD v4 |
X | g.25012990G>C | CA412611974 | ARX | c.1005C>G (p.Phe335Leu)
| |
X | g.25012990G= | CA2420209077 | ARX | c.1005C= (p.Phe335=)
| |
X | g.25012990G>T | CA412611975 | ARX | c.1005C>A (p.Phe335Leu)
| |
X | g.25012991A>C | CA412611976 | ARX | c.1004T>G (p.Phe335Cys)
| |
X | g.25012991A>G | CA412611977 | ARX | c.1004T>C (p.Phe335Ser)
| |
X | g.25012991A>T | CA412611978 | ARX | c.1004T>A (p.Phe335Tyr)
| |
X | g.25012992A>C | CA412611981 | ARX | c.1003T>G (p.Phe335Val)
| |
X | g.25012992A>G | CA412611980 | ARX | c.1003T>C (p.Phe335Leu)
| gnomAD v4 |
X | g.25012992A>T | CA412611979 | ARX | c.1003T>A (p.Phe335Ile)
| |
X | g.25012993C>A | CA515947105 | ARX | c.1002G>T (p.Thr334=)
| |
X | g.25012993C= | CA2420209078 | ARX | c.1002G= (p.Thr334=)
| |
X | g.25012993C>G | CA515947106 | ARX | c.1002G>C (p.Thr334=)
| |
X | g.25012993C>T | CA515947107 | ARX | c.1002G>A (p.Thr334=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25012994G>A | CA412611982 | ARX | c.1001C>T (p.Thr334Met)
| |
X | g.25012994G>C | CA412611983 | ARX | c.1001C>G (p.Thr334Arg)
| |
X | g.25012994G>T | CA412611984 | ARX | c.1001C>A (p.Thr334Lys)
| |
X | g.25012995T>A | CA412611985 | ARX | c.1000A>T (p.Thr334Ser)
| |
X | g.25012995T>C | CA412611986 | ARX | c.1000A>G (p.Thr334Ala)
| |
X | g.25012995T>G | CA412611987 | ARX | c.1000A>C (p.Thr334Pro)
| |
X | g.25012996G>A | CA515947108 | ARX | c.999C>T (p.Thr333=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25012996G>C | CA515947110 | ARX | c.999C>G (p.Thr333=)
| |
X | g.25012996G= | CA2420209079 | ARX | c.999C= (p.Thr333=)
| |
X | g.25012996G>T | CA515947109 | ARX | c.999C>A (p.Thr333=)
| |
X | g.25012997G>A | CA412611988 | ARX | c.998C>T (p.Thr333Ile)
| |
X | g.25012997G>C | CA171168 | ARX | c.998C>G (p.Thr333Ser)
| ClinVar dbSNP |
X | g.25012997G= | CA2420209080 | ARX | c.998C= (p.Thr333=)
| |
X | g.25012997G>T | CA121411 | ARX | c.998C>A (p.Thr333Asn)
| ClinVar dbSNP gnomAD v4 |
X | g.25012998T>A | CA412611989 | ARX | c.997A>T (p.Thr333Ser)
| |
X | g.25012998T>C | CA412611990 | ARX | c.997A>G (p.Thr333Ala)
| gnomAD v4 |
X | g.25012998T>G | CA412611991 | ARX | c.997A>C (p.Thr333Pro)
| |
X | g.25012999G>A | CA515947111 | ARX | c.996C>T (p.Arg332=)
| |
X | g.25012999G>C | CA515947112 | ARX | c.996C>G (p.Arg332=)
| |
X | g.25012999G>T | CA515947113 | ARX | c.996C>A (p.Arg332=)
| gnomAD v4 |
X | g.25013000C>A | CA213238 | ARX | c.995G>T (p.Arg332Leu)
| ClinVar dbSNP |
X | g.25013000C= | CA2420209081 | ARX | c.995G= (p.Arg332=)
| |
X | g.25013000C>G | CA412611992 | ARX | c.995G>C (p.Arg332Pro)
| |
X | g.25013000C>T | CA213168 | ARX | c.995G>A (p.Arg332His)
| ClinVar dbSNP gnomAD v4 |
X | g.25013001G>A | CA412611993 | ARX | c.994C>T (p.Arg332Cys)
| ClinVar dbSNP |
X | g.25013001G>C | CA412611994 | ARX | c.994C>G (p.Arg332Gly)
| ClinVar dbSNP |
X | g.25013001G>T | CA412611995 | ARX | c.994C>A (p.Arg332Ser)
| gnomAD v4 |
X | g.25013002G>A | CA515947114 | ARX | c.993C>T (p.Tyr331=)
| ClinVar gnomAD v4 |
X | g.25013002G>C | CA412611996 | ARX | c.993C>G (p.Tyr331Ter)
| |
X | g.25013002G>T | CA412611997 | ARX | c.993C>A (p.Tyr331Ter)
| |
X | g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTGTTCTTCA | CA2820100811 | ARX | c.992_993insTGAAGAACACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Tyr332GlufsTer10)
| |
X | g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | CA2506430009 | ARX | c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Arg332SerfsTer11)
| |
X | g.25013003T>A | CA412611998 | ARX | c.992A>T (p.Tyr331Phe)
| |
X | g.25013003T>C | CA412612000 | ARX | c.992A>G (p.Tyr331Cys)
| dbSNP |
X | g.25013003T>G | CA412611999 | ARX | c.992A>C (p.Tyr331Ser)
| |
X | g.25013003T= | CA2420209082 | ARX | c.992A= (p.Tyr331=)
| |
X | g.25013004A>C | CA412612001 | ARX | c.991T>G (p.Tyr331Asp)
| |
X | g.25013004A>G | CA412612003 | ARX | c.991T>C (p.Tyr331His)
| |
X | g.25013004A>T | CA412612002 | ARX | c.991T>A (p.Tyr331Asn)
| |
X | g.25013005G>A | CA515947115 | ARX | c.990C>T (p.Arg330=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013005G>C | CA515947116 | ARX | c.990C>G (p.Arg330=)
| |
X | g.25013005G= | CA2420209083 | ARX | c.990C= (p.Arg330=)
| |
X | g.25013005G>T | CA515947117 | ARX | c.990C>A (p.Arg330=)
| |
X | g.25013005dup | CA2842641268 | ARX | c.990dup (p.Tyr331LeufsTer?)
| |
X | g.25013006C>A | CA412612004 | ARX | c.989G>T (p.Arg330Leu)
| |
X | g.25013006C= | CA2420209084 | ARX | c.989G= (p.Arg330=)
| |
X | g.25013006C>G | CA412612005 | ARX | c.989G>C (p.Arg330Pro)
| |
X | g.25013006C>T | CA10588763 | ARX | c.989G>A (p.Arg330His)
| ClinVar dbSNP |
X | g.25013007G>A | CA412612006 | ARX | c.988C>T (p.Arg330Cys)
| ClinVar |
X | g.25013007G>C | CA412612007 | ARX | c.988C>G (p.Arg330Gly)
| |
X | g.25013007G>T | CA412612008 | ARX | c.988C>A (p.Arg330Ser)
| gnomAD v4 |
X | g.25013008C>A | CA412612009 | ARX | c.987G>T (p.Arg329Ser)
| |
X | g.25013008C>G | CA412612010 | ARX | c.987G>C (p.Arg329Ser)
| |
X | g.25013008C>T | CA515947118 | ARX | c.987G>A (p.Arg329=)
| |
X | g.25013009C>A | CA412612011 | ARX | c.986G>T (p.Arg329Met)
| |
X | g.25013009C>G | CA412612012 | ARX | c.986G>C (p.Arg329Thr)
| |
X | g.25013009C>T | CA412612013 | ARX | c.986G>A (p.Arg329Lys)
| COSMIC |
X | g.25013010T>A | CA412612015 | ARX | c.985A>T (p.Arg329Trp)
| |
X | g.25013010T>C | CA412612014 | ARX | c.985A>G (p.Arg329Gly)
| |
X | g.25013010T>G | CA515947119 | ARX | c.985A>C (p.Arg329=)
| |
X | g.25013011C>A | CA412612016 | ARX | c.984G>T (p.Gln328His)
| gnomAD v4 |
X | g.25013011C>G | CA412612017 | ARX | c.984G>C (p.Gln328His)
| |
X | g.25013011C>T | CA515947120 | ARX | c.984G>A (p.Gln328=)
| |
X | g.25013011_25013015delinsCTGTT | CA2420209085 | ARX | c.980_984delinsAACAG (p.Lys327=)
| |
X | g.25013012T>A | CA412612018 | ARX | c.983A>T (p.Gln328Leu)
| |
X | g.25013012T>C | CA224142 | ARX | c.983A>G (p.Gln328Arg)
| dbSNP |
X | g.25013012T>G | CA412612019 | ARX | c.983A>C (p.Gln328Pro)
| |
X | g.25013012T= | CA2420209086 | ARX | c.983A= (p.Gln328=)
| |
X | g.25013014_25013017del | CA224141 | ARX | c.980_983del (p.Lys327ArgfsTer?)
| ClinVar dbSNP |
X | g.25013013G>A | CA412612020 | ARX | c.982C>T (p.Gln328Ter)
| |
X | g.25013013G>C | CA412612021 | ARX | c.982C>G (p.Gln328Glu)
| |
X | g.25013013G>T | CA412612022 | ARX | c.982C>A (p.Gln328Lys)
| |
X | g.25013013delinsAAA | CA2695232861 | ARX | c.982delinsTTT (p.Gln328PhefsTer?)
| |
X | g.25013014T>A | CA412612023 | ARX | c.981A>T (p.Lys327Asn)
| |
X | g.25013014T>C | CA515947121 | ARX | c.981A>G (p.Lys327=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013014T>G | CA412612024 | ARX | c.981A>C (p.Lys327Asn)
| |
X | g.25013014T= | CA2420209087 | ARX | c.981A= (p.Lys327=)
| |
X | g.25013015T>A | CA412612026 | ARX | c.980A>T (p.Lys327Ile)
| |
X | g.25013015T>C | CA412612027 | ARX | c.980A>G (p.Lys327Arg)
| |
X | g.25013015T>G | CA412612025 | ARX | c.980A>C (p.Lys327Thr)
| |
X | g.25013016T>A | CA412612028 | ARX | c.979A>T (p.Lys327Ter)
| |
X | g.25013016T>C | CA412612029 | ARX | c.979A>G (p.Lys327Glu)
| |
X | g.25013016T>G | CA412612030 | ARX | c.979A>C (p.Lys327Gln)
| |
X | g.25013017G>A | CA515947123 | ARX | c.978C>T (p.Arg326=)
| |
X | g.25013017G>C | CA515947124 | ARX | c.978C>G (p.Arg326=)
| |
X | g.25013017G>T | CA515947125 | ARX | c.978C>A (p.Arg326=)
| gnomAD v4 |
X | g.25013018C>A | CA412612031 | ARX | c.977G>T (p.Arg326Leu)
| |
X | g.25013018C>G | CA412612032 | ARX | c.977G>C (p.Arg326Pro)
| |
X | g.25013018C>T | CA412612033 | ARX | c.977G>A (p.Arg326His)
| gnomAD v4 |
X | g.25013019G>A | CA412612034 | ARX | c.976C>T (p.Arg326Cys)
| dbSNP gnomAD v4 |
X | g.25013019G>C | CA412612035 | ARX | c.976C>G (p.Arg326Gly)
| |
X | g.25013019G>T | CA412612036 | ARX | c.976C>A (p.Arg326Ser)
| |
X | g.25013020T>A | CA412612037 | ARX | c.975A>T (p.Lys325Asn)
| |
X | g.25013020T>C | CA515947130 | ARX | c.975A>G (p.Lys325=)
| |
X | g.25013020T>G | CA412612038 | ARX | c.975A>C (p.Lys325Asn)
| |
X | g.25013021T>A | CA412612040 | ARX | c.974A>T (p.Lys325Ile)
| |
X | g.25013021T>C | CA412612041 | ARX | c.974A>G (p.Lys325Arg)
| |
X | g.25013021T>G | CA412612039 | ARX | c.974A>C (p.Lys325Thr)
| |
X | g.25013022T>A | CA412612042 | ARX | c.973A>T (p.Lys325Ter)
| |
X | g.25013022T>C | CA412612043 | ARX | c.973A>G (p.Lys325Glu)
| |
X | g.25013022T>G | CA412612044 | ARX | c.973A>C (p.Lys325Gln)
| gnomAD v4 |
X | g.25013023C>A | CA515947134 | ARX | c.972G>T (p.Leu324=)
| |
X | g.25013023C>G | CA515947135 | ARX | c.972G>C (p.Leu324=)
| |
X | g.25013023C>T | CA515947136 | ARX | c.972G>A (p.Leu324=)
| |
X | g.25013024A>C | CA412612045 | ARX | c.971T>G (p.Leu324Arg)
| |
X | g.25013024A>G | CA412612046 | ARX | c.971T>C (p.Leu324Pro)
| |
X | g.25013024A>T | CA412612047 | ARX | c.971T>A (p.Leu324Gln)
| |
X | g.25013025G>A | CA515947140 | ARX | c.970C>T (p.Leu324=)
| gnomAD v4 |
X | g.25013025G>C | CA412612048 | ARX | c.970C>G (p.Leu324Val)
| |
X | g.25013025G>T | CA412612049 | ARX | c.970C>A (p.Leu324Met)
| |
X | g.25013026C>A | CA515947143 | ARX | c.969G>T (p.Leu323=)
| |
X | g.25013026C>G | CA515947145 | ARX | c.969G>C (p.Leu323=)
| |
X | g.25013026C>T | CA515947146 | ARX | c.969G>A (p.Leu323=)
| gnomAD v4 |
X | g.25013027A>C | CA412612050 | ARX | c.968T>G (p.Leu323Arg)
| |
X | g.25013027A>G | CA412612051 | ARX | c.968T>C (p.Leu323Pro)
| |
X | g.25013027A>T | CA412612052 | ARX | c.968T>A (p.Leu323Gln)
| |
X | g.25013028G>A | CA515947148 | ARX | c.967C>T (p.Leu323=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013028G>C | CA412612053 | ARX | c.967C>G (p.Leu323Val)
| |
X | g.25013028G= | CA2420209088 | ARX | c.967C= (p.Leu323=)
| |
X | g.25013028G>T | CA412612054 | ARX | c.967C>A (p.Leu323Met)
| gnomAD v4 |
X | g.25013029C>A | CA515947154 | ARX | c.966G>T (p.Gly322=)
| dbSNP |
X | g.25013029C>G | CA515947155 | ARX | c.966G>C (p.Gly322=)
| |
X | g.25013029C>T | CA515947156 | ARX | c.966G>A (p.Gly322=)
| |
X | g.25013030C>A | CA412612057 | ARX | c.965G>T (p.Gly322Val)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013030C= | CA2420209089 | ARX | c.965G= (p.Gly322=)
| |
X | g.25013030C>G | CA412612056 | ARX | c.965G>C (p.Gly322Ala)
| |
X | g.25013030C>T | CA412612055 | ARX | c.965G>A (p.Gly322Glu)
| |
X | g.25013031C>A | CA412612058 | ARX | c.964G>T (p.Gly322Trp)
| gnomAD v4 |
X | g.25013031C>G | CA412612060 | ARX | c.964G>C (p.Gly322Arg)
| |
X | g.25013031C>T | CA412612059 | ARX | c.964G>A (p.Gly322Arg)
| gnomAD v4 |
X | g.25013032C>A | CA412612061 | ARX | c.963G>T (p.Glu321Asp)
| |
X | g.25013032C>G | CA412612062 | ARX | c.963G>C (p.Glu321Asp)
| |
X | g.25013032C>T | CA515947159 | ARX | c.963G>A (p.Glu321=)
| gnomAD v4 |
X | g.25013033T>A | CA412612063 | ARX | c.962A>T (p.Glu321Val)
| |
X | g.25013033T>C | CA412612064 | ARX | c.962A>G (p.Glu321Gly)
| |
X | g.25013033T>G | CA412612065 | ARX | c.962A>C (p.Glu321Ala)
| |
X | g.25013034C>A | CA412612066 | ARX | c.961G>T (p.Glu321Ter)
| |
X | g.25013034C= | CA2420209090 | ARX | c.961G= (p.Glu321=)
| |
X | g.25013034C>G | CA412612067 | ARX | c.961G>C (p.Glu321Gln)
| |
X | g.25013034C>T | CA412612068 | ARX | c.961G>A (p.Glu321Lys)
| dbSNP |
X | g.25013035C>A | CA412612069 | ARX | c.960G>T (p.Glu320Asp)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013035C= | CA2420209091 | ARX | c.960G= (p.Glu320=)
| |
X | g.25013035C>G | CA412612070 | ARX | c.960G>C (p.Glu320Asp)
| |
X | g.25013035C>T | CA515947165 | ARX | c.960G>A (p.Glu320=)
| |
X | g.25013036T>A | CA412612071 | ARX | c.959A>T (p.Glu320Val)
| |
X | g.25013036T>C | CA412612072 | ARX | c.959A>G (p.Glu320Gly)
| |
X | g.25013036T>G | CA412612073 | ARX | c.959A>C (p.Glu320Ala)
| |
X | g.25013037C>A | CA412612076 | ARX | c.958G>T (p.Glu320Ter)
| |
X | g.25013037C>G | CA412612075 | ARX | c.958G>C (p.Glu320Gln)
| |
X | g.25013037C>T | CA412612074 | ARX | c.958G>A (p.Glu320Lys)
| |
X | g.25013038C>A | CA515947167 | ARX | c.957G>T (p.Ser319=)
| |
X | g.25013038C>G | CA515947169 | ARX | c.957G>C (p.Ser319=)
| |
X | g.25013038C>T | CA515947168 | ARX | c.957G>A (p.Ser319=)
| |
X | g.25013039G>A | CA412612077 | ARX | c.956C>T (p.Ser319Leu)
| |
X | g.25013039G>C | CA412612078 | ARX | c.956C>G (p.Ser319Trp)
| |
X | g.25013039G= | CA2420209092 | ARX | c.956C= (p.Ser319=)
| |
X | g.25013039G>T | CA412612079 | ARX | c.956C>A (p.Ser319Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013040A>C | CA412612080 | ARX | c.955T>G (p.Ser319Ala)
| |
X | g.25013040A>G | CA412612081 | ARX | c.955T>C (p.Ser319Pro)
| |
X | g.25013040A>T | CA412612082 | ARX | c.955T>A (p.Ser319Thr)
| |
X | g.25013041G>A | CA515947173 | ARX | c.954C>T (p.Asp318=)
| |
X | g.25013041G>C | CA412612083 | ARX | c.954C>G (p.Asp318Glu)
| |
X | g.25013041G>T | CA412612084 | ARX | c.954C>A (p.Asp318Glu)
| |
X | g.25013042T>A | CA412612085 | ARX | c.953A>T (p.Asp318Val)
| |
X | g.25013042T>C | CA412612086 | ARX | c.953A>G (p.Asp318Gly)
| gnomAD v4 |
X | g.25013042T>G | CA412612087 | ARX | c.953A>C (p.Asp318Ala)
| |
X | g.25013043C>A | CA412612090 | ARX | c.952G>T (p.Asp318Tyr)
| |
X | g.25013043C>G | CA412612089 | ARX | c.952G>C (p.Asp318His)
| |
X | g.25013043C>T | CA412612088 | ARX | c.952G>A (p.Asp318Asn)
| |
X | g.25013044G>A | CA515947175 | ARX | c.951C>T (p.Ser317=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013044G>C | CA412612091 | ARX | c.951C>G (p.Ser317Arg)
| |
X | g.25013044G= | CA2420209093 | ARX | c.951C= (p.Ser317=)
| |
X | g.25013044G>T | CA412612092 | ARX | c.951C>A (p.Ser317Arg)
| gnomAD v4 COSMIC |
X | g.25013045C>A | CA412612093 | ARX | c.950G>T (p.Ser317Ile)
| gnomAD v4 |
X | g.25013045C= | CA2420209094 | ARX | c.950G= (p.Ser317=)
| |
X | g.25013045C>G | CA412612094 | ARX | c.950G>C (p.Ser317Thr)
| |
X | g.25013045C>T | CA16608408 | ARX | c.950G>A (p.Ser317Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013046T>A | CA412612095 | ARX | c.949A>T (p.Ser317Cys)
| |
X | g.25013046T>C | CA412612096 | ARX | c.949A>G (p.Ser317Gly)
| |
X | g.25013046T>G | CA412612097 | ARX | c.949A>C (p.Ser317Arg)
| |
X | g.25013047G>A | CA515947178 | ARX | c.948C>T (p.Gly316=)
| ClinVar gnomAD v4 |
X | g.25013047G>C | CA515947179 | ARX | c.948C>G (p.Gly316=)
| |
X | g.25013047G>T | CA515947181 | ARX | c.948C>A (p.Gly316=)
| gnomAD v4 |
X | g.25013048C>A | CA412612098 | ARX | c.947G>T (p.Gly316Val)
| gnomAD v4 |
X | g.25013048C>G | CA412612099 | ARX | c.947G>C (p.Gly316Ala)
| |
X | g.25013048C>T | CA412612100 | ARX | c.947G>A (p.Gly316Asp)
| |
X | g.25013050del | CA2499226603 | ARX | c.947del (p.Gly316AlafsTer9)
| ClinVar dbSNP |
X | g.25013049C>A | CA412612103 | ARX | c.946G>T (p.Gly316Cys)
| ClinVar dbSNP gnomAD v4 |
X | g.25013049C= | CA2420209095 | ARX | c.946G= (p.Gly316=)
| |
X | g.25013049C>G | CA412612102 | ARX | c.946G>C (p.Gly316Arg)
| |
X | g.25013049C>T | CA412612101 | ARX | c.946G>A (p.Gly316Ser)
| ClinVar dbSNP |
X | g.25013050C>A | CA515947185 | ARX | c.945G>T (p.Ala315=)
| gnomAD v4 |
X | g.25013050C= | CA2420209096 | ARX | c.945G= (p.Ala315=)
| |
X | g.25013050C>G | CA515947186 | ARX | c.945G>C (p.Ala315=)
| |
X | g.25013050C>T | CA515947187 | ARX | c.945G>A (p.Ala315=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013051G>A | CA412612104 | ARX | c.944C>T (p.Ala315Val)
| ClinVar dbSNP gnomAD v4 COSMIC |
X | g.25013051G>C | CA412612105 | ARX | c.944C>G (p.Ala315Gly)
| |
X | g.25013051G= | CA2420209097 | ARX | c.944C= (p.Ala315=)
| |
X | g.25013051G>T | CA412612106 | ARX | c.944C>A (p.Ala315Glu)
| gnomAD v4 |
X | g.25013052C>A | CA412612107 | ARX | c.943G>T (p.Ala315Ser)
| |
X | g.25013052C= | CA2420209098 | ARX | c.943G= (p.Ala315=)
| |
X | g.25013052C>G | CA412612108 | ARX | c.943G>C (p.Ala315Pro)
| |
X | g.25013052C>T | CA412612109 | ARX | c.943G>A (p.Ala315Thr)
| dbSNP gnomAD v2 |
X | g.25013053A>C | CA515947190 | ARX | c.942T>G (p.Ser314=)
| |
X | g.25013053A>G | CA515947191 | ARX | c.942T>C (p.Ser314=)
| gnomAD v4 |
X | g.25013053A>T | CA515947192 | ARX | c.942T>A (p.Ser314=)
| |
X | g.25013054G>A | CA412612110 | ARX | c.941C>T (p.Ser314Phe)
| |
X | g.25013054G>C | CA412612111 | ARX | c.941C>G (p.Ser314Cys)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013054G= | CA2420209099 | ARX | c.941C= (p.Ser314=)
| |
X | g.25013054G>T | CA412612112 | ARX | c.941C>A (p.Ser314Tyr)
| gnomAD v4 |
X | g.25013055A>C | CA412612113 | ARX | c.940T>G (p.Ser314Ala)
| |
X | g.25013055A>G | CA412612114 | ARX | c.940T>C (p.Ser314Pro)
| gnomAD v4 |
X | g.25013055A>T | CA412612115 | ARX | c.940T>A (p.Ser314Thr)
| |
X | g.25013056G>A | CA515947195 | ARX | c.939C>T (p.Leu313=)
| dbSNP |
X | g.25013056G>C | CA515947197 | ARX | c.939C>G (p.Leu313=)
| |
X | g.25013056G= | CA2420209100 | ARX | c.939C= (p.Leu313=)
| |
X | g.25013056G>T | CA515947199 | ARX | c.939C>A (p.Leu313=)
| gnomAD v4 |
X | g.25013057A>C | CA412612117 | ARX | c.938T>G (p.Leu313Arg)
| |
X | g.25013057A>G | CA412612118 | ARX | c.938T>C (p.Leu313Pro)
| |
X | g.25013057A>T | CA412612116 | ARX | c.938T>A (p.Leu313His)
| |
X | g.25013058G>A | CA412612121 | ARX | c.937C>T (p.Leu313Phe)
| |
X | g.25013058G>C | CA412612119 | ARX | c.937C>G (p.Leu313Val)
| |
X | g.25013058G>T | CA412612120 | ARX | c.937C>A (p.Leu313Ile)
| |
X | g.25013059G>A | CA515947203 | ARX | c.936C>T (p.Cys312=)
| ClinVar gnomAD v4 |
X | g.25013059G>C | CA412612122 | ARX | c.936C>G (p.Cys312Trp)
| |
X | g.25013059G>T | CA412612123 | ARX | c.936C>A (p.Cys312Ter)
| |
X | g.25013060C>A | CA412612124 | ARX | c.935G>T (p.Cys312Phe)
| gnomAD v4 |
X | g.25013060C>G | CA412612125 | ARX | c.935G>C (p.Cys312Ser)
| |
X | g.25013060C>T | CA412612126 | ARX | c.935G>A (p.Cys312Tyr)
| gnomAD v4 |
X | g.25013061A>C | CA412612127 | ARX | c.934T>G (p.Cys312Gly)
| |
X | g.25013061A>G | CA412612128 | ARX | c.934T>C (p.Cys312Arg)
| |
X | g.25013061A>T | CA412612129 | ARX | c.934T>A (p.Cys312Ser)
| |
X | g.25013062C>A | CA515947207 | ARX | c.933G>T (p.Val311=)
| |
X | g.25013062C>G | CA515947209 | ARX | c.933G>C (p.Val311=)
| |
X | g.25013062C>T | CA515947210 | ARX | c.933G>A (p.Val311=)
| |
X | g.25013063A>C | CA412612130 | ARX | c.932T>G (p.Val311Gly)
| |
X | g.25013063A>G | CA412612131 | ARX | c.932T>C (p.Val311Ala)
| |
X | g.25013063A>T | CA412612132 | ARX | c.932T>A (p.Val311Glu)
| |
X | g.25013064C>A | CA412612133 | ARX | c.931G>T (p.Val311Leu)
| gnomAD v4 |
X | g.25013064C= | CA2420209101 | ARX | c.931G= (p.Val311=)
| |
X | g.25013064C>G | CA412612135 | ARX | c.931G>C (p.Val311Leu)
| gnomAD v4 |
X | g.25013064C>T | CA412612134 | ARX | c.931G>A (p.Val311Met)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013065G>A | CA515947213 | ARX | c.930C>T (p.Ser310=)
| ClinVar dbSNP gnomAD v4 COSMIC |
X | g.25013065G>C | CA412612136 | ARX | c.930C>G (p.Ser310Arg)
| |
X | g.25013065G= | CA2420209102 | ARX | c.930C= (p.Ser310=)
| |
X | g.25013065G>T | CA412612137 | ARX | c.930C>A (p.Ser310Arg)
| gnomAD v4 |
X | g.25013066C>A | CA412612138 | ARX | c.929G>T (p.Ser310Ile)
| |
X | g.25013066C>G | CA412612139 | ARX | c.929G>C (p.Ser310Thr)
| |
X | g.25013066C>T | CA412612140 | ARX | c.929G>A (p.Ser310Asn)
| |
X | g.25013067T>A | CA412612141 | ARX | c.928A>T (p.Ser310Cys)
| |
X | g.25013067T>C | CA412612142 | ARX | c.928A>G (p.Ser310Gly)
| |
X | g.25013067T>G | CA412612143 | ARX | c.928A>C (p.Ser310Arg)
| |
X | g.25013068G>A | CA10373861 | ARX | c.927C>T (p.Asp309=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013068G>C | CA412612144 | ARX | c.927C>G (p.Asp309Glu)
| |
X | g.25013068G= | CA2420209103 | ARX | c.927C= (p.Asp309=)
| |
X | g.25013068G>T | CA412612145 | ARX | c.927C>A (p.Asp309Glu)
| gnomAD v4 |
X | g.25013069T>A | CA412612147 | ARX | c.926A>T (p.Asp309Val)
| |
X | g.25013069T>C | CA412612148 | ARX | c.926A>G (p.Asp309Gly)
| |
X | g.25013069T>G | CA412612146 | ARX | c.926A>C (p.Asp309Ala)
| |
X | g.25013070C>A | CA412612149 | ARX | c.925G>T (p.Asp309Tyr)
| |
X | g.25013070C>G | CA412612150 | ARX | c.925G>C (p.Asp309His)
| COSMIC |
X | g.25013070C>T | CA412612151 | ARX | c.925G>A (p.Asp309Asn)
| |
X | g.25013071C>A | CA412612152 | ARX | c.924G>T (p.Glu308Asp)
| gnomAD v4 |
X | g.25013071C>G | CA412612153 | ARX | c.924G>C (p.Glu308Asp)
| |
X | g.25013071C>T | CA515947219 | ARX | c.924G>A (p.Glu308=)
| ClinVar |
X | g.25013072T>A | CA412612154 | ARX | c.923A>T (p.Glu308Val)
| |
X | g.25013072T>C | CA412612155 | ARX | c.923A>G (p.Glu308Gly)
| |
X | g.25013072T>G | CA412612156 | ARX | c.923A>C (p.Glu308Ala)
| |
X | g.25013073C>A | CA412612157 | ARX | c.922G>T (p.Glu308Ter)
| ClinVar dbSNP |
X | g.25013073C= | CA2420209104 | ARX | c.922G= (p.Glu308=)
| |
X | g.25013073C>G | CA412612158 | ARX | c.922G>C (p.Glu308Gln)
| |
X | g.25013073C>T | CA412612159 | ARX | c.922G>A (p.Glu308Lys)
| gnomAD v4 |
X | g.25013074_25013075del | CA2579576415 | ARX | c.921_922del (p.Glu308GlyfsTer?)
| |
X | g.25013074G>A | CA224139 | ARX | c.921C>T (p.Gly307=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013074G>C | CA515947224 | ARX | c.921C>G (p.Gly307=)
| |
X | g.25013074G= | CA2420209105 | ARX | c.921C= (p.Gly307=)
| |
X | g.25013074G>T | CA10373862 | ARX | c.921C>A (p.Gly307=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013075C>A | CA412612162 | ARX | c.920G>T (p.Gly307Val)
| |
X | g.25013075C>G | CA412612161 | ARX | c.920G>C (p.Gly307Ala)
| |
X | g.25013075C>T | CA412612160 | ARX | c.920G>A (p.Gly307Asp)
| |
X | g.25013076dup | CA2842641269 | ARX | c.920dup (p.Glu308ArgfsTer?)
| |