Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25012914G>A | CA2693353350 | ARX | c.1073+8C>T (n.1073+8C>T) | gnomAD v4 |
X | g.25012914G>C | CA2693353351 | ARX | c.1073+8C>G (n.1073+8C>G) | gnomAD v4 |
X | g.25012914G>T | CA2579576414 | ARX | c.1073+8C>A (n.1073+8C>A) | ClinVar |
X | g.25012915C= | CA2420209051 | ARX | c.1073+7G= (n.1073+7G=) | |
X | g.25012915C>G | CA2420209050 | ARX | c.1073+7G>C (n.1073+7G>C) | dbSNP gnomAD v4 |
X | g.25012915C>T | CA874146488 | ARX | c.1073+7G>A (n.1073+7G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25012916G>A | CA641364627 | ARX | c.1073+6C>T (n.1073+6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012916G= | CA2420209052 | ARX | c.1073+6C= (n.1073+6C=) | |
X | g.25012916G>T | CA645618122 | ARX | c.1073+6C>A (n.1073+6C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.25012917C>A | CA2693353352 | ARX | c.1073+5G>T (n.1073+5G>T) | gnomAD v4 |
X | g.25012917C= | CA2420209053 | ARX | c.1073+5G= (n.1073+5G=) | |
X | g.25012917C>T | CA641364628 | ARX | c.1073+5G>A (n.1073+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012918A= | CA2420209054 | ARX | c.1073+4T= (n.1073+4T=) | |
X | g.25012918A>C | CA641364629 | ARX | c.1073+4T>G (n.1073+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25012918A>G | CA2573158497 | ARX | c.1073+4T>C (n.1073+4T>C) | ClinVar dbSNP |
X | g.25012920A>C | CA412611815 | ARX | c.1073+2T>G (n.1073+2T>G) | |
X | g.25012920A>G | CA412611814 | ARX | c.1073+2T>C (n.1073+2T>C) | |
X | g.25012920A>T | CA412611816 | ARX | c.1073+2T>A (n.1073+2T>A) | |
X | g.25012921C>A | CA412611817 | ARX | c.1073+1G>T (n.1073+1G>T) | |
X | g.25012921C= | CA2420209055 | ARX | c.1073+1G= (n.1073+1G=) | |
X | g.25012921C>G | CA412611819 | ARX | c.1073+1G>C (n.1073+1G>C) | |
X | g.25012921C>T | CA412611818 | ARX | c.1073+1G>A (n.1073+1G>A) | dbSNP gnomAD v2 |
X | g.25012922C>A | CA412611820 | ARX | c.1073G>T (p.Arg358Met) | gnomAD v4 |
X | g.25012922C>G | CA412611821 | ARX | c.1073G>C (p.Arg358Thr) | |
X | g.25012922C>T | CA412611822 | ARX | c.1073G>A (p.Arg358Lys) | ClinVar dbSNP |
X | g.25012923T>A | CA412611823 | ARX | c.1072A>T (p.Arg358Trp) | |
X | g.25012923T>C | CA412611824 | ARX | c.1072A>G (p.Arg358Gly) | |
X | g.25012923T>G | CA515946923 | ARX | c.1072A>C (p.Arg358=) | |
X | g.25012924G>A | CA515946924 | ARX | c.1071C>T (p.Thr357=) | |
X | g.25012924G>C | CA10373856 | ARX | c.1071C>G (p.Thr357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012924G= | CA2420209056 | ARX | c.1071C= (p.Thr357=) | |
X | g.25012924G>T | CA515946925 | ARX | c.1071C>A (p.Thr357=) | |
X | g.25012925G>A | CA412611825 | ARX | c.1070C>T (p.Thr357Ile) | |
X | g.25012925G>C | CA412611826 | ARX | c.1070C>G (p.Thr357Ser) | |
X | g.25012925G= | CA2420209057 | ARX | c.1070C= (p.Thr357=) | |
X | g.25012925G>T | CA10373857 | ARX | c.1070C>A (p.Thr357Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012926T>A | CA412611827 | ARX | c.1069A>T (p.Thr357Ser) | |
X | g.25012926T>C | CA412611828 | ARX | c.1069A>G (p.Thr357Ala) | |
X | g.25012926T>G | CA412611829 | ARX | c.1069A>C (p.Thr357Pro) | |
X | g.25012927G>A | CA515946926 | ARX | c.1068C>T (p.Phe356=) | |
X | g.25012927G>C | CA412611831 | ARX | c.1068C>G (p.Phe356Leu) | |
X | g.25012927G>T | CA412611830 | ARX | c.1068C>A (p.Phe356Leu) | |
X | g.25012928A>C | CA412611832 | ARX | c.1067T>G (p.Phe356Cys) | |
X | g.25012928A>G | CA412611833 | ARX | c.1067T>C (p.Phe356Ser) | |
X | g.25012928A>T | CA412611834 | ARX | c.1067T>A (p.Phe356Tyr) | |
X | g.25012929A= | CA2420209058 | ARX | c.1066T= (p.Phe356=) | |
X | g.25012929A>C | CA412611835 | ARX | c.1066T>G (p.Phe356Val) | |
X | g.25012929A>G | CA412611836 | ARX | c.1066T>C (p.Phe356Leu) | gnomAD v4 |
X | g.25012929A>T | CA412611837 | ARX | c.1066T>A (p.Phe356Ile) | COSMIC |