Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.77268562_77268573dup | CA2315413101 | GALR1 | c.733-23_733-12dup (n.733-23_733-12dup) | dbSNP gnomAD v4 |
18 | g.77268565_77268573del | CA2813109843 | GALR1 | c.733-20_733-12del (n.733-20_733-12del) | |
18 | g.77268568_77268571delinsCTCT | CA2315413109 | GALR1 | c.733-17_733-14delinsCTCT (n.733-17_733-14delinsCTCT) | |
18 | g.77268576_77268578dup | CA9005955 | GALR1 | c.733-9_733-7dup (n.733-9_733-7dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268576_77268578del | CA9005953 | GALR1 | c.733-9_733-7del (n.733-9_733-7del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268571T>C | CA9005956 | GALR1 | c.733-14T>C (n.733-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268571T= | CA2315413111 | GALR1 | c.733-14T= (n.733-14T=) | |
18 | g.77268571_77268572insCA | CA2642312248 | GALR1 | c.733-14_733-13insCA (n.733-14_733-13insCA) | gnomAD v4 |
18 | g.77268571_77268572insCC | CA992096069 | GALR1 | c.733-14_733-13insCC (n.733-14_733-13insCC) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.77268573C>T | CA2642312250 | GALR1 | c.733-12C>T (n.733-12C>T) | gnomAD v4 |
18 | g.77268574T>C | CA2642312251 | GALR1 | c.733-11T>C (n.733-11T>C) | gnomAD v4 |
18 | g.77268575T>A | CA2642312252 | GALR1 | c.733-10T>A (n.733-10T>A) | gnomAD v4 |
18 | g.77268576C>A | CA2642312254 | GALR1 | c.733-9C>A (n.733-9C>A) | gnomAD v4 |
18 | g.77268576C= | CA2315413113 | GALR1 | c.733-9C= (n.733-9C=) | |
18 | g.77268576C>G | CA782666487 | GALR1 | c.733-9C>G (n.733-9C>G) | dbSNP |
18 | g.77268576C>T | CA2642312253 | GALR1 | c.733-9C>T (n.733-9C>T) | gnomAD v4 |
18 | g.77268576_77268578delinsCTT | CA2315413112 | GALR1 | c.733-9_733-7delinsCTT (n.733-9_733-7delinsCTT) | |
18 | g.77268579_77268580del | CA9005957 | GALR1 | c.733-6_733-5del (n.733-6_733-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.77268579T>C | CA2576530742 | GALR1 | c.733-6T>C (n.733-6T>C) | |
18 | g.77268581C>T | CA2642312256 | GALR1 | c.733-4C>T (n.733-4C>T) | gnomAD v4 |
18 | g.77268583A>C | CA402807143 | GALR1 | c.733-2A>C (n.733-2A>C) | |
18 | g.77268583A>G | CA402807147 | GALR1 | c.733-2A>G (n.733-2A>G) | |
18 | g.77268583A>T | CA402807145 | GALR1 | c.733-2A>T (n.733-2A>T) | |
18 | g.77268584G>A | CA402807149 | GALR1 | c.733-1G>A (n.733-1G>A) | |
18 | g.77268584G>C | CA402807151 | GALR1 | c.733-1G>C (n.733-1G>C) | |
18 | g.77268584G>T | CA402807153 | GALR1 | c.733-1G>T (n.733-1G>T) | gnomAD v4 |
18 | g.77268585A>C | CA402807155 | GALR1 | c.733A>C (p.Thr245Pro) | |
18 | g.77268585A>G | CA402807157 | GALR1 | c.733A>G (p.Thr245Ala) | gnomAD v4 |
18 | g.77268585A>T | CA402807158 | GALR1 | c.733A>T (p.Thr245Ser) | |
18 | g.77268586C>A | CA402807159 | GALR1 | c.734C>A (p.Thr245Asn) | |
18 | g.77268586C= | CA2315413114 | GALR1 | c.734C= (p.Thr245=) | |
18 | g.77268586C>G | CA402807160 | GALR1 | c.734C>G (p.Thr245Ser) | |
18 | g.77268586C>T | CA402807163 | GALR1 | c.734C>T (p.Thr245Ile) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.77268587T>A | CA504863539 | GALR1 | c.735T>A (p.Thr245=) | |
18 | g.77268587T>C | CA504863540 | GALR1 | c.735T>C (p.Thr245=) | |
18 | g.77268587T>G | CA504863541 | GALR1 | c.735T>G (p.Thr245=) | |
18 | g.77268588G>A | CA402807165 | GALR1 | c.736G>A (p.Ala246Thr) | gnomAD v4 |
18 | g.77268588G>C | CA402807167 | GALR1 | c.736G>C (p.Ala246Pro) | |
18 | g.77268588G>T | CA402807169 | GALR1 | c.736G>T (p.Ala246Ser) | |
18 | g.77268589C>A | CA402807172 | GALR1 | c.737C>A (p.Ala246Glu) | |
18 | g.77268589C= | CA2315413116 | GALR1 | c.737C= (p.Ala246=) | |
18 | g.77268589C>G | CA402807174 | GALR1 | c.737C>G (p.Ala246Gly) | gnomAD v4 |
18 | g.77268589C>T | CA402807171 | GALR1 | c.737C>T (p.Ala246Val) | dbSNP |
18 | g.77268589_77268593delinsCACAG | CA2315413115 | GALR1 | c.737_741delinsCACAG (p.Ala246=) | |
18 | g.77268590A>C | CA504863547 | GALR1 | c.738A>C (p.Ala246=) | |
18 | g.77268590A>G | CA504863545 | GALR1 | c.738A>G (p.Ala246=) | |
18 | g.77268590A>T | CA504863546 | GALR1 | c.738A>T (p.Ala246=) | |
18 | g.77268594_77268597del | CA631290587 | GALR1 | c.742_745del (p.Thr248PhefsTer29) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.77268591C>A | CA402807179 | GALR1 | c.739C>A (p.Gln247Lys) | |
18 | g.77268591C= | CA2315413117 | GALR1 | c.739C= (p.Gln247=) |