Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.87612304_87612307dup | CA3000837 | DSPP | c.136-18_136-15dup (n.136-18_136-15dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612307_87612331dup | CA2671358383 | DSPP | c.136-15_145dup | gnomAD v4 |
4 | g.87612306A= | CA1474384394 | DSPP | c.136-16A= (n.136-16A=) | |
4 | g.87612306A>G | CA553085322 | DSPP | c.136-16A>G (n.136-16A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612308T>G | CA100849353 | DSPP | c.136-14T>G (n.136-14T>G) | dbSNP |
4 | g.87612308T= | CA1474384395 | DSPP | c.136-14T= (n.136-14T=) | |
4 | g.87612309G>C | CA553085323 | DSPP | c.136-13G>C (n.136-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612309G= | CA1474384396 | DSPP | c.136-13G= (n.136-13G=) | |
4 | g.87612309G>T | CA100849360 | DSPP | c.136-13G>T (n.136-13G>T) | dbSNP |
4 | g.87612310T>C | CA2578139779 | DSPP | c.136-12T>C (n.136-12T>C) | |
4 | g.87612313C>A | CA2671358384 | DSPP | c.136-9C>A (n.136-9C>A) | gnomAD v4 |
4 | g.87612313C>T | CA2671358385 | DSPP | c.136-9C>T (n.136-9C>T) | gnomAD v4 |
4 | g.87612314T>A | CA1474384398 | DSPP | c.136-8T>A (n.136-8T>A) | dbSNP gnomAD v4 |
4 | g.87612314T= | CA1474384397 | DSPP | c.136-8T= (n.136-8T=) | |
4 | g.87612318T>C | CA2671358386 | DSPP | c.136-4T>C (n.136-4T>C) | gnomAD v4 |
4 | g.87612319C= | CA1474384399 | DSPP | c.136-3C= (n.136-3C=) | |
4 | g.87612319C>T | CA553085324 | DSPP | c.136-3C>T (n.136-3C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.87612320A>C | CA357602883 | DSPP | c.136-2A>C (n.136-2A>C) | |
4 | g.87612320A>G | CA357602884 | DSPP | c.136-2A>G (n.136-2A>G) | |
4 | g.87612320A>T | CA357602885 | DSPP | c.136-2A>T (n.136-2A>T) | |
4 | g.87612321G>A | CA357602886 | DSPP | c.136-1G>A (n.136-1G>A) | gnomAD v4 |
4 | g.87612321G>C | CA357602887 | DSPP | c.136-1G>C (n.136-1G>C) | |
4 | g.87612321G>T | CA357602888 | DSPP | c.136-1G>T (n.136-1G>T) | |
4 | g.87612322G>A | CA357602889 | DSPP | c.136G>A (p.Asp46Asn) | |
4 | g.87612322G>C | CA357602890 | DSPP | c.136G>C (p.Asp46His) | |
4 | g.87612322G>T | CA357602891 | DSPP | c.136G>T (p.Asp46Tyr) | |
4 | g.87612323A>C | CA357602892 | DSPP | c.137A>C (p.Asp46Ala) | |
4 | g.87612323A>G | CA357602893 | DSPP | c.137A>G (p.Asp46Gly) | |
4 | g.87612323A>T | CA357602894 | DSPP | c.137A>T (p.Asp46Val) | |
4 | g.87612324T>A | CA357602895 | DSPP | c.138T>A (p.Asp46Glu) | |
4 | g.87612324T>C | CA440294015 | DSPP | c.138T>C (p.Asp46=) | |
4 | g.87612324T>G | CA357602896 | DSPP | c.138T>G (p.Asp46Glu) | |
4 | g.87612325G>A | CA357602898 | DSPP | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612325G>C | CA357602899 | DSPP | c.139G>C (p.Glu47Gln) | |
4 | g.87612325G= | CA1474384400 | DSPP | c.139G= (p.Glu47=) | |
4 | g.87612325G>T | CA357602897 | DSPP | c.139G>T (p.Glu47Ter) | |
4 | g.87612326A>C | CA357602901 | DSPP | c.140A>C (p.Glu47Ala) | |
4 | g.87612326A>G | CA357602900 | DSPP | c.140A>G (p.Glu47Gly) | |
4 | g.87612326A>T | CA357602902 | DSPP | c.140A>T (p.Glu47Val) | |
4 | g.87612327G>A | CA440294020 | DSPP | c.141G>A (p.Glu47=) | |
4 | g.87612327G>C | CA357602903 | DSPP | c.141G>C (p.Glu47Asp) | |
4 | g.87612327G>T | CA357602904 | DSPP | c.141G>T (p.Glu47Asp) | |
4 | g.87612328T>A | CA357602905 | DSPP | c.142T>A (p.Leu48Ile) | |
4 | g.87612328T>C | CA440294023 | DSPP | c.142T>C (p.Leu48=) | |
4 | g.87612328T>G | CA357602906 | DSPP | c.142T>G (p.Leu48Val) | |
4 | g.87612329_87612330insTTTTTTT | CA2762527067 | DSPP | c.143_144insTTTTTTT (p.Leu48PhefsTer18) | |
4 | g.87612329T>A | CA357602907 | DSPP | c.143T>A (p.Leu48Ter) | |
4 | g.87612329T>C | CA357602908 | DSPP | c.143T>C (p.Leu48Ser) | |
4 | g.87612329T>G | CA357602909 | DSPP | c.143T>G (p.Leu48Ter) | |
4 | g.87612330A= | CA1474384401 | DSPP | c.144A= (p.Leu48=) |