Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17381946T>C | CA2643699407 | PADI6 | c.554-21T>C (n.554-21T>C) | gnomAD v4 |
1 | g.17381947T>C | CA641404 | PADI6 | c.554-20T>C (n.554-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17381947T= | CA1156237454 | PADI6 | c.554-20T= (n.554-20T=) | |
1 | g.17381950C= | CA1156237455 | PADI6 | c.554-17C= (n.554-17C=) | |
1 | g.17381950C>T | CA641405 | PADI6 | c.554-17C>T (n.554-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17381950dup | CA2643699408 | PADI6 | c.554-17dup (n.554-17dup) | gnomAD v4 |
1 | g.17381953T>C | CA641406 | PADI6 | c.554-14T>C (n.554-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17381953T= | CA1156237456 | PADI6 | c.554-14T= (n.554-14T=) | |
1 | g.17381955T>A | CA641407 | PADI6 | c.554-12T>A (n.554-12T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17381955T= | CA1156237457 | PADI6 | c.554-12T= (n.554-12T=) | |
1 | g.17381956del | CA2643699409 | PADI6 | c.554-11del (n.554-11del) | gnomAD v4 |
1 | g.17381958T>A | CA521042314 | PADI6 | c.554-9T>A (n.554-9T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17381958T>C | CA2643699410 | PADI6 | c.554-9T>C (n.554-9T>C) | gnomAD v4 |
1 | g.17381958T= | CA1156237458 | PADI6 | c.554-9T= (n.554-9T=) | |
1 | g.17381961G>A | CA1156237460 | PADI6 | c.554-6G>A (n.554-6G>A) | dbSNP gnomAD v4 |
1 | g.17381961G= | CA1156237459 | PADI6 | c.554-6G= (n.554-6G=) | |
1 | g.17381962C= | CA1156237461 | PADI6 | c.554-5C= (n.554-5C=) | |
1 | g.17381962C>T | CA1156237462 | PADI6 | c.554-5C>T (n.554-5C>T) | dbSNP |
1 | g.17381968_17381987dup | CA2643699411 | PADI6 | c.555_574dup | gnomAD v4 |
1 | g.17381963C= | CA1156237463 | PADI6 | c.554-4C= (n.554-4C=) | |
1 | g.17381963C>T | CA18631125 | PADI6 | c.554-4C>T (n.554-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17381964C= | CA1156237464 | PADI6 | c.554-3C= (n.554-3C=) | |
1 | g.17381964C>G | CA2643699412 | PADI6 | c.554-3C>G (n.554-3C>G) | gnomAD v4 |
1 | g.17381964C>T | CA641408 | PADI6 | c.554-3C>T (n.554-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17381965A= | CA1143464842 | PADI6 | c.554-2A= (n.554-2A=) | |
1 | g.17381965A>C | CA338244996 | PADI6 | c.554-2A>C (n.554-2A>C) | |
1 | g.17381965A>G | CA338245002 | PADI6 | c.554-2A>G (n.554-2A>G) | gnomAD v4 |
1 | g.17381965A>T | CA641409 | PADI6 | c.554-2A>T (n.554-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17381966G>A | CA338245046 | PADI6 | c.554-1G>A (n.554-1G>A) | |
1 | g.17381966G>C | CA338245048 | PADI6 | c.554-1G>C (n.554-1G>C) | |
1 | g.17381966G>T | CA338245044 | PADI6 | c.554-1G>T (n.554-1G>T) | |
1 | g.17381967A>C | CA338245079 | PADI6 | c.554A>C (p.Glu185Ala) | |
1 | g.17381967A>G | CA338245059 | PADI6 | c.554A>G (p.Glu185Gly) | |
1 | g.17381967A>T | CA338245064 | PADI6 | c.554A>T (p.Glu185Val) | |
1 | g.17381968A>C | CA338245084 | PADI6 | c.555A>C (p.Glu185Asp) | |
1 | g.17381968A>G | CA416397620 | PADI6 | c.555A>G (p.Glu185=) | |
1 | g.17381968A>T | CA338245086 | PADI6 | c.555A>T (p.Glu185Asp) | |
1 | g.17381969A= | CA1156237465 | PADI6 | c.556A= (p.Ile186=) | |
1 | g.17381969A>C | CA338245088 | PADI6 | c.556A>C (p.Ile186Leu) | |
1 | g.17381969A>G | CA338245093 | PADI6 | c.556A>G (p.Ile186Val) | dbSNP |
1 | g.17381969A>T | CA338245095 | PADI6 | c.556A>T (p.Ile186Leu) | |
1 | g.17381970T>A | CA338245098 | PADI6 | c.557T>A (p.Ile186Lys) | gnomAD v4 |
1 | g.17381970T>C | CA338245103 | PADI6 | c.557T>C (p.Ile186Thr) | gnomAD v4 |
1 | g.17381970T>G | CA338245099 | PADI6 | c.557T>G (p.Ile186Arg) | |
1 | g.17381971A>C | CA416397633 | PADI6 | c.558A>C (p.Ile186=) | |
1 | g.17381971A>G | CA338245105 | PADI6 | c.558A>G (p.Ile186Met) | |
1 | g.17381971A>T | CA416397635 | PADI6 | c.558A>T (p.Ile186=) | |
1 | g.17381972dup | CA2573051414 | PADI6 | c.559dup (p.Thr187AsnfsTer?) | ClinVar dbSNP |
1 | g.17381972A= | CA1156237466 | PADI6 | c.559A= (p.Thr187=) | |
1 | g.17381972A>C | CA338245107 | PADI6 | c.559A>C (p.Thr187Pro) |