Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.134486466_134486472delinsCTTTTTTAT | CA2695236030 | HPRT1 | c.320_326delinsCTTTTTTAT (p.Asn107ThrfsTer9) n.478_484delinsCTTTTTTAT n.278_284delinsCTTTTTTAT c.338_344delinsCTTTTTTAT (p.Asn113ThrfsTer9) | |
X | g.134486471del | CA2694740559 | HPRT1 | c.325del (p.Gln109SerfsTer6) n.483del n.283del c.343del (p.Gln115SerfsTer6) | gnomAD v4 |
X | g.134486471C>A | CA10521368 | HPRT1 | c.325C>A (p.Gln109Lys) n.483C>A n.283C>A c.343C>A (p.Gln115Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.134486471C= | CA2459741103 | HPRT1 | c.325C= (p.Gln109=) n.483C= n.283C= c.343C= (p.Gln115=) | |
X | g.134486471C>G | CA414713614 | HPRT1 | c.325C>G (p.Gln109Glu) n.483C>G n.283C>G c.343C>G (p.Gln115Glu) | |
X | g.134486471C>T | CA254997 | HPRT1 | c.325C>T (p.Gln109Ter) n.483C>T n.283C>T c.343C>T (p.Gln115Ter) | ClinVar dbSNP gnomAD v4 |
X | g.134486472A>C | CA414713615 | HPRT1 | c.326A>C (p.Gln109Pro) n.484A>C n.284A>C c.344A>C (p.Gln115Pro) | |
X | g.134486472A>G | CA414713616 | HPRT1 | c.326A>G (p.Gln109Arg) n.484A>G n.284A>G c.344A>G (p.Gln115Arg) | gnomAD v4 |
X | g.134486472A>T | CA414713617 | HPRT1 | c.326A>T (p.Gln109Leu) n.484A>T n.284A>T c.344A>T (p.Gln115Leu) | gnomAD v4 |
X | g.134486473G>A | CA518649273 | HPRT1 | c.327G>A (p.Gln109=) n.485G>A n.285G>A c.345G>A (p.Gln115=) | gnomAD v4 |
X | g.134486473G>C | CA414713618 | HPRT1 | c.327G>C (p.Gln109His) n.485G>C n.285G>C c.345G>C (p.Gln115His) | |
X | g.134486473G>T | CA414713619 | HPRT1 | c.327G>T (p.Gln109His) n.485G>T n.285G>T c.345G>T (p.Gln115His) | gnomAD v4 |
X | g.134486474T>A | CA414713620 | HPRT1 | c.328T>A (p.Ser110Thr) n.486T>A n.286T>A c.346T>A (p.Ser116Thr) | gnomAD v3 gnomAD v4 |
X | g.134486474T>C | CA414713621 | HPRT1 | c.328T>C (p.Ser110Pro) n.486T>C n.286T>C c.346T>C (p.Ser116Pro) | gnomAD v4 |
X | g.134486474T>G | CA414713622 | HPRT1 | c.328T>G (p.Ser110Ala) n.486T>G n.286T>G c.346T>G (p.Ser116Ala) | |
X | g.134486475C>A | CA414713623 | HPRT1 | c.329C>A (p.Ser110Ter) n.487C>A n.287C>A c.347C>A (p.Ser116Ter) | dbSNP gnomAD v3 gnomAD v4 |
X | g.134486475C= | CA2459741104 | HPRT1 | c.329C= (p.Ser110=) n.487C= n.287C= c.347C= (p.Ser116=) | |
X | g.134486475C>G | CA414713624 | HPRT1 | c.329C>G (p.Ser110Ter) n.487C>G n.287C>G c.347C>G (p.Ser116Ter) | |
X | g.134486475C>T | CA120894 | HPRT1 | c.329C>T (p.Ser110Leu) n.487C>T n.287C>T c.347C>T (p.Ser116Leu) | ClinVar dbSNP gnomAD v4 |
X | g.134486475_134486478delinsTCT | CA2695236031 | HPRT1 | c.329_332delinsTCT (p.Ser110PhefsTer2) n.487_490delinsTCT n.287_290delinsTCT c.347_350delinsTCT (p.Ser116PhefsTer2) | |
X | g.134486476A>C | CA518649278 | HPRT1 | c.330A>C (p.Ser110=) n.488A>C n.288A>C c.348A>C (p.Ser116=) | |
X | g.134486476A>G | CA518649279 | HPRT1 | c.330A>G (p.Ser110=) n.488A>G n.288A>G c.348A>G (p.Ser116=) | gnomAD v4 |
X | g.134486476A>T | CA518649281 | HPRT1 | c.330A>T (p.Ser110=) n.488A>T n.288A>T c.348A>T (p.Ser116=) | |
X | g.134486477dup | CA2695236032 | HPRT1 | c.331dup (p.Thr111AsnfsTer11) n.489dup n.289dup c.349dup (p.Thr117AsnfsTer11) | |
X | g.134486477A= | CA2459741105 | HPRT1 | c.331A= (p.Thr111=) n.489A= n.289A= c.349A= (p.Thr117=) | |
X | g.134486477A>C | CA414713625 | HPRT1 | c.331A>C (p.Thr111Pro) n.489A>C n.289A>C c.349A>C (p.Thr117Pro) | |
X | g.134486477A>G | CA414713626 | HPRT1 | c.331A>G (p.Thr111Ala) n.489A>G n.289A>G c.349A>G (p.Thr117Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.134486477A>T | CA414713627 | HPRT1 | c.331A>T (p.Thr111Ser) n.489A>T n.289A>T c.349A>T (p.Thr117Ser) | |
X | g.134486478C>A | CA414713628 | HPRT1 | c.332C>A (p.Thr111Lys) n.490C>A n.290C>A c.350C>A (p.Thr117Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.134486478C= | CA2459741106 | HPRT1 | c.332C= (p.Thr111=) n.490C= n.290C= c.350C= (p.Thr117=) | |
X | g.134486478C>G | CA414713629 | HPRT1 | c.332C>G (p.Thr111Arg) n.490C>G n.290C>G c.350C>G (p.Thr117Arg) | |
X | g.134486478C>T | CA414713630 | HPRT1 | c.332C>T (p.Thr111Ile) n.490C>T n.290C>T c.350C>T (p.Thr117Ile) | gnomAD v4 |
X | g.134486479A>C | CA518649737 | HPRT1 | c.333A>C (p.Thr111=) n.491A>C n.291A>C c.351A>C (p.Thr117=) | gnomAD v4 |
X | g.134486479A>G | CA518649740 | HPRT1 | c.333A>G (p.Thr111=) n.491A>G n.291A>G c.351A>G (p.Thr117=) | gnomAD v4 |
X | g.134486479A>T | CA518649738 | HPRT1 | c.333A>T (p.Thr111=) n.491A>T n.291A>T c.351A>T (p.Thr117=) | gnomAD v4 |
X | g.134486479dup | CA2695236033 | HPRT1 | c.333dup (p.Gly112ArgfsTer10) n.491dup n.291dup c.351dup (p.Gly118ArgfsTer10) | |
X | g.134486479_134486480del | CA2580101554 | HPRT1 | c.333_334del (p.Asp113HisfsTer8) n.491_492del n.291_292del c.351_352del (p.Asp119HisfsTer8) | ClinVar |
X | g.134486480G>A | CA414713634 | HPRT1 | c.334G>A (p.Gly112Arg) n.492G>A n.292G>A c.352G>A (p.Gly118Arg) | gnomAD v4 |
X | g.134486480G>C | CA414713633 | HPRT1 | c.334G>C (p.Gly112Arg) n.492G>C n.292G>C c.352G>C (p.Gly118Arg) | gnomAD v4 |
X | g.134486480G>T | CA414713632 | HPRT1 | c.334G>T (p.Gly112Trp) n.492G>T n.292G>T c.352G>T (p.Gly118Trp) | gnomAD v4 |
X | g.134486483dup | CA2694740560 | HPRT1 | c.337dup (p.Asp113GlyfsTer9) n.495dup n.295dup c.355dup (p.Asp119GlyfsTer9) | gnomAD v4 |
X | g.134486483del | CA2579706218 | HPRT1 | c.337del (p.Asp113ThrfsTer2) n.495del n.295del c.355del (p.Asp119ThrfsTer2) | gnomAD v4 |
X | g.134486481G>A | CA414713637 | HPRT1 | c.335G>A (p.Gly112Glu) n.493G>A n.293G>A c.353G>A (p.Gly118Glu) | gnomAD v4 |
X | g.134486481G>C | CA414713635 | HPRT1 | c.335G>C (p.Gly112Ala) n.493G>C n.293G>C c.353G>C (p.Gly118Ala) | |
X | g.134486481G>T | CA414713636 | HPRT1 | c.335G>T (p.Gly112Val) n.493G>T n.293G>T c.353G>T (p.Gly118Val) | gnomAD v4 |
X | g.134486482G>A | CA10521369 | HPRT1 | c.336G>A (p.Gly112=) n.494G>A n.294G>A c.354G>A (p.Gly118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.134486482G>C | CA518649752 | HPRT1 | c.336G>C (p.Gly112=) n.494G>C n.294G>C c.354G>C (p.Gly118=) | |
X | g.134486482G= | CA2459741107 | HPRT1 | c.336G= (p.Gly112=) n.494G= n.294G= c.354G= (p.Gly118=) | |
X | g.134486482G>T | CA518649754 | HPRT1 | c.336G>T (p.Gly112=) n.494G>T n.294G>T c.354G>T (p.Gly118=) | gnomAD v4 |
X | g.134486483G>A | CA414713638 | HPRT1 | c.337G>A (p.Asp113Asn) n.495G>A n.295G>A c.355G>A (p.Asp119Asn) | gnomAD v4 |