Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25010292T>A | CA412611774 | ARX | c.1087A>T (p.Met363Leu) | |
X | g.25010292T>C | CA10373839 | ARX | c.1087A>G (p.Met363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.25010292T>G | CA412611775 | ARX | c.1087A>C (p.Met363Leu) | gnomAD v4 |
X | g.25010292T= | CA2420208041 | ARX | c.1087A= (p.Met363=) | |
X | g.25010293G>A | CA515748720 | ARX | c.1086C>T (p.Ala362=) | |
X | g.25010293G>C | CA515748722 | ARX | c.1086C>G (p.Ala362=) | |
X | g.25010293G>T | CA515748724 | ARX | c.1086C>A (p.Ala362=) | |
X | g.25010294G>A | CA412611776 | ARX | c.1085C>T (p.Ala362Val) | |
X | g.25010294G>C | CA412611777 | ARX | c.1085C>G (p.Ala362Gly) | |
X | g.25010294G>T | CA412611778 | ARX | c.1085C>A (p.Ala362Asp) | |
X | g.25010295C>A | CA412611780 | ARX | c.1084G>T (p.Ala362Ser) | |
X | g.25010295C>G | CA412611781 | ARX | c.1084G>C (p.Ala362Pro) | |
X | g.25010295C>T | CA412611779 | ARX | c.1084G>A (p.Ala362Thr) | |
X | g.25010296C>A | CA515748730 | ARX | c.1083G>T (p.Leu361=) | gnomAD v4 |
X | g.25010296C= | CA2420208042 | ARX | c.1083G= (p.Leu361=) | |
X | g.25010296C>G | CA515748731 | ARX | c.1083G>C (p.Leu361=) | ClinVar |
X | g.25010296C>T | CA327732825 | ARX | c.1083G>A (p.Leu361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.25010297A>C | CA412611783 | ARX | c.1082T>G (p.Leu361Arg) | |
X | g.25010297A>G | CA412611782 | ARX | c.1082T>C (p.Leu361Pro) | |
X | g.25010297A>T | CA412611784 | ARX | c.1082T>A (p.Leu361Gln) | |
X | g.25010298G>A | CA515748737 | ARX | c.1081C>T (p.Leu361=) | |
X | g.25010298G>C | CA412611785 | ARX | c.1081C>G (p.Leu361Val) | |
X | g.25010298G>T | CA412611786 | ARX | c.1081C>A (p.Leu361Met) | |
X | g.25010299T>A | CA412611787 | ARX | c.1080A>T (p.Glu360Asp) | |
X | g.25010299T>C | CA515748740 | ARX | c.1080A>G (p.Glu360=) | |
X | g.25010299T>G | CA412611788 | ARX | c.1080A>C (p.Glu360Asp) | |
X | g.25010300T>A | CA412611789 | ARX | c.1079A>T (p.Glu360Val) | |
X | g.25010300T>C | CA412611790 | ARX | c.1079A>G (p.Glu360Gly) | |
X | g.25010300T>G | CA412611791 | ARX | c.1079A>C (p.Glu360Ala) | |
X | g.25010301C>A | CA412611792 | ARX | c.1078G>T (p.Glu360Ter) | |
X | g.25010301C= | CA2420208043 | ARX | c.1078G= (p.Glu360=) | |
X | g.25010301C>G | CA412611793 | ARX | c.1078G>C (p.Glu360Gln) | dbSNP COSMIC |
X | g.25010301C>T | CA412611794 | ARX | c.1078G>A (p.Glu360Lys) | |
X | g.25010302C>A | CA412611795 | ARX | c.1077G>T (p.Glu359Asp) | |
X | g.25010302C= | CA2420208044 | ARX | c.1077G= (p.Glu359=) | |
X | g.25010302C>G | CA412611796 | ARX | c.1077G>C (p.Glu359Asp) | |
X | g.25010302C>T | CA515748745 | ARX | c.1077G>A (p.Glu359=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25010303T>A | CA412611797 | ARX | c.1076A>T (p.Glu359Val) | |
X | g.25010303T>C | CA412611798 | ARX | c.1076A>G (p.Glu359Gly) | |
X | g.25010303T>G | CA412611799 | ARX | c.1076A>C (p.Glu359Ala) | |
X | g.25010304C>A | CA412611802 | ARX | c.1075G>T (p.Glu359Ter) | |
X | g.25010304C>G | CA412611800 | ARX | c.1075G>C (p.Glu359Gln) | |
X | g.25010304C>T | CA412611801 | ARX | c.1075G>A (p.Glu359Lys) | |
X | g.25010305C>A | CA412611803 | ARX | c.1074G>T (p.Arg358Ser) | |
X | g.25010305C>G | CA412611804 | ARX | c.1074G>C (p.Arg358Ser) | |
X | g.25010305C>T | CA515748751 | ARX | c.1074G>A (p.Arg358=) | |
X | g.25010306C>A | CA412611805 | ARX | c.1074-1G>T (n.1074-1G>T) | |
X | g.25010306C>G | CA412611806 | ARX | c.1074-1G>C (n.1074-1G>C) | |
X | g.25010306C>T | CA412611807 | ARX | c.1074-1G>A (n.1074-1G>A) | dbSNP |
X | g.25010307T>A | CA412611808 | ARX | c.1074-2A>T (n.1074-2A>T) |