Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
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=) |