Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.65077518_65077525delinsGGCGGCAC | CA2183440112 | KBTBD13 | c.703_710delinsGGCGGCAC (p.Gly235=) | |
15 | g.65077520_65077526del | CA618956829 | KBTBD13 | c.705_711del (p.Trp238SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077521G>A | CA7613961 | KBTBD13 | c.706G>A (p.Gly236Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077521G>C | CA392862533 | KBTBD13 | c.706G>C (p.Gly236Arg) | |
15 | g.65077521G= | CA2183440121 | KBTBD13 | c.706G= (p.Gly236=) | |
15 | g.65077521G>T | CA392862536 | KBTBD13 | c.706G>T (p.Gly236Cys) | gnomAD v4 |
15 | g.65077522G>A | CA392862549 | KBTBD13 | c.707G>A (p.Gly236Asp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077522G>C | CA392862552 | KBTBD13 | c.707G>C (p.Gly236Ala) | |
15 | g.65077522G= | CA2183440125 | KBTBD13 | c.707G= (p.Gly236=) | |
15 | g.65077522G>T | CA392862556 | KBTBD13 | c.707G>T (p.Gly236Val) | |
15 | g.65077523C>A | CA490898940 | KBTBD13 | c.708C>A (p.Gly236=) | gnomAD v4 |
15 | g.65077523C= | CA2183440128 | KBTBD13 | c.708C= (p.Gly236=) | |
15 | g.65077523C>G | CA490898942 | KBTBD13 | c.708C>G (p.Gly236=) | |
15 | g.65077523C>T | CA490898941 | KBTBD13 | c.708C>T (p.Gly236=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077524A>C | CA392862563 | KBTBD13 | c.709A>C (p.Thr237Pro) | |
15 | g.65077524A>G | CA392862559 | KBTBD13 | c.709A>G (p.Thr237Ala) | |
15 | g.65077524A>T | CA392862560 | KBTBD13 | c.709A>T (p.Thr237Ser) | |
15 | g.65077525C>A | CA392862568 | KBTBD13 | c.710C>A (p.Thr237Lys) | gnomAD v4 |
15 | g.65077525C= | CA2183440129 | KBTBD13 | c.710C= (p.Thr237=) | |
15 | g.65077525C>G | CA392862571 | KBTBD13 | c.710C>G (p.Thr237Arg) | |
15 | g.65077525C>T | CA271503937 | KBTBD13 | c.710C>T (p.Thr237Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077526G>A | CA7613962 | KBTBD13 | c.711G>A (p.Thr237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077526G>C | CA490898946 | KBTBD13 | c.711G>C (p.Thr237=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077526G= | CA2183440130 | KBTBD13 | c.711G= (p.Thr237=) | |
15 | g.65077526G>T | CA490898947 | KBTBD13 | c.711G>T (p.Thr237=) | gnomAD v4 |
15 | g.65077527T>A | CA392862578 | KBTBD13 | c.712T>A (p.Trp238Arg) | |
15 | g.65077527T>C | CA392862581 | KBTBD13 | c.712T>C (p.Trp238Arg) | gnomAD v4 |
15 | g.65077527T>G | CA392862583 | KBTBD13 | c.712T>G (p.Trp238Gly) | |
15 | g.65077528G>A | CA392862587 | KBTBD13 | c.713G>A (p.Trp238Ter) | gnomAD v4 |
15 | g.65077528G>C | CA392862590 | KBTBD13 | c.713G>C (p.Trp238Ser) | |
15 | g.65077528G>T | CA392862591 | KBTBD13 | c.713G>T (p.Trp238Leu) | gnomAD v4 |
15 | g.65077529G>A | CA392862592 | KBTBD13 | c.714G>A (p.Trp238Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077529G>C | CA392862595 | KBTBD13 | c.714G>C (p.Trp238Cys) | |
15 | g.65077529G= | CA2183440133 | KBTBD13 | c.714G= (p.Trp238=) | |
15 | g.65077529G>T | CA392862597 | KBTBD13 | c.714G>T (p.Trp238Cys) | |
15 | g.65077530C>A | CA392862600 | KBTBD13 | c.715C>A (p.His239Asn) | gnomAD v4 |
15 | g.65077530C>G | CA392862610 | KBTBD13 | c.715C>G (p.His239Asp) | |
15 | g.65077530C>T | CA392862604 | KBTBD13 | c.715C>T (p.His239Tyr) | |
15 | g.65077531A>C | CA392862617 | KBTBD13 | c.716A>C (p.His239Pro) | |
15 | g.65077531A>G | CA392862620 | KBTBD13 | c.716A>G (p.His239Arg) | |
15 | g.65077531A>T | CA392862622 | KBTBD13 | c.716A>T (p.His239Leu) | |
15 | g.65077532C>A | CA392862628 | KBTBD13 | c.717C>A (p.His239Gln) | gnomAD v4 |
15 | g.65077532C= | CA2183440134 | KBTBD13 | c.717C= (p.His239=) | |
15 | g.65077532C>G | CA271503949 | KBTBD13 | c.717C>G (p.His239Gln) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077532C>T | CA271503951 | KBTBD13 | c.717C>T (p.His239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077533G>A | CA392862637 | KBTBD13 | c.718G>A (p.Glu240Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077533G>C | CA392862638 | KBTBD13 | c.718G>C (p.Glu240Gln) | |
15 | g.65077533G= | CA2183440137 | KBTBD13 | c.718G= (p.Glu240=) | |
15 | g.65077533G>T | CA392862639 | KBTBD13 | c.718G>T (p.Glu240Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077534A>C | CA392862641 | KBTBD13 | c.719A>C (p.Glu240Ala) |