Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
12 | g.102852897A= | CA2059446526 | PAH | c.760T= (p.Phe254=) c.745T= (p.Phe249=) n.519T= | |
12 | g.102852897A>C | CA386295625 | PAH | c.760T>G (p.Phe254Val) c.745T>G (p.Phe249Val) n.519T>G | |
12 | g.102852897A>G | CA386295628 | PAH | c.760T>C (p.Phe254Leu) c.745T>C (p.Phe249Leu) n.519T>C | |
12 | g.102852897A>T | CA229744 | PAH | c.760T>A (p.Phe254Ile) c.745T>A (p.Phe249Ile) n.519T>A | ClinVar dbSNP |
12 | g.102852898A>C | CA386295632 | PAH | c.759T>G (p.Asp253Glu) c.744T>G (p.Asp248Glu) n.518T>G | |
12 | g.102852898A>G | CA481331522 | PAH | c.759T>C (p.Asp253=) c.744T>C (p.Asp248=) n.518T>C | |
12 | g.102852898A>T | CA386295635 | PAH | c.759T>A (p.Asp253Glu) c.744T>A (p.Asp248Glu) n.518T>A | |
12 | g.102852899T>A | CA386295640 | PAH | c.758A>T (p.Asp253Val) c.743A>T (p.Asp248Val) n.517A>T | |
12 | g.102852899T>C | CA386295650 | PAH | c.758A>G (p.Asp253Gly) c.743A>G (p.Asp248Gly) n.517A>G | dbSNP |
12 | g.102852899T>G | CA386295646 | PAH | c.758A>C (p.Asp253Ala) c.743A>C (p.Asp248Ala) n.517A>C | |
12 | g.102852899T= | CA2059446530 | PAH | c.758A= (p.Asp253=) c.743A= (p.Asp248=) n.517A= | |
12 | g.102852900C>A | CA386295654 | PAH | c.757G>T (p.Asp253Tyr) c.742G>T (p.Asp248Tyr) n.516G>T | gnomAD v4 |
12 | g.102852900C= | CA2059446536 | PAH | c.757G= (p.Asp253=) c.742G= (p.Asp248=) n.516G= | |
12 | g.102852900C>G | CA386295661 | PAH | c.757G>C (p.Asp253His) c.742G>C (p.Asp248His) n.516G>C | |
12 | g.102852900C>T | CA6748845 | PAH | c.757G>A (p.Asp253Asn) c.742G>A (p.Asp248Asn) n.516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852901C>A | CA481331531 | PAH | c.756G>T (p.Arg252=) c.741G>T (p.Arg247=) n.515G>T | dbSNP |
12 | g.102852901C= | CA2059446541 | PAH | c.756G= (p.Arg252=) c.741G= (p.Arg247=) n.515G= | |
12 | g.102852901C>G | CA481331529 | PAH | c.756G>C (p.Arg252=) c.741G>C (p.Arg247=) n.515G>C | |
12 | g.102852901C>T | CA481331530 | PAH | c.756G>A (p.Arg252=) c.741G>A (p.Arg247=) n.515G>A | ClinVar dbSNP |
12 | g.102852902C>A | CA386295664 | PAH | c.755G>T (p.Arg252Leu) c.740G>T (p.Arg247Leu) n.514G>T | |
12 | g.102852902C= | CA2059446547 | PAH | c.755G= (p.Arg252=) c.740G= (p.Arg247=) n.514G= | |
12 | g.102852902C>G | CA16020854 | PAH | c.755G>C (p.Arg252Pro) c.740G>C (p.Arg247Pro) n.514G>C | ClinVar dbSNP |
12 | g.102852902C>T | CA229743 | PAH | c.755G>A (p.Arg252Gln) c.740G>A (p.Arg247Gln) n.514G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852903G>A | CA251529 | PAH | c.754C>T (p.Arg252Trp) c.739C>T (p.Arg247Trp) n.513C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.[102852903G>A;102878057C>A] | CA057308 | PAH | c.[353-507G>T;754C>T] (p.Arg252Trp) c.[338-507G>T;739C>T] (p.Arg247Trp) | ClinVar |
12 | g.102852903G>C | CA229742 | PAH | c.754C>G (p.Arg252Gly) c.739C>G (p.Arg247Gly) n.513C>G | ClinVar dbSNP |
12 | g.102852903G= | CA2059446554 | PAH | c.754C= (p.Arg252=) c.739C= (p.Arg247=) n.513C= | |
12 | g.102852903G>T | CA481331533 | PAH | c.754C>A (p.Arg252=) c.739C>A (p.Arg247=) n.513C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852906_102852907del | CA16020852 | PAH | c.753_754del (p.Arg252GlyfsTer?) c.738_739del (p.Arg247GlyfsTer?) n.512_513del | ClinVar dbSNP |
12 | g.102852904del | CA16020853 | PAH | c.753del (p.Arg252GlyfsTer?) c.738del (p.Arg247GlyfsTer?) n.512del | ClinVar dbSNP |
12 | g.102852904A>C | CA481331535 | PAH | c.753T>G (p.Ser251=) c.738T>G (p.Ser246=) n.512T>G | |
12 | g.102852904A>G | CA481331536 | PAH | c.753T>C (p.Ser251=) c.738T>C (p.Ser246=) n.512T>C | |
12 | g.102852904A>T | CA481331537 | PAH | c.753T>A (p.Ser251=) c.738T>A (p.Ser246=) n.512T>A | |
12 | g.102852905G>A | CA6748846 | PAH | c.752C>T (p.Ser251Phe) c.737C>T (p.Ser246Phe) n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852905G>C | CA386295685 | PAH | c.752C>G (p.Ser251Cys) c.737C>G (p.Ser246Cys) n.511C>G | |
12 | g.102852905G= | CA2059446557 | PAH | c.752C= (p.Ser251=) c.737C= (p.Ser246=) n.511C= | |
12 | g.102852905G>T | CA386295688 | PAH | c.752C>A (p.Ser251Tyr) c.737C>A (p.Ser246Tyr) n.511C>A | |
12 | g.102852906A>C | CA386295698 | PAH | c.751T>G (p.Ser251Ala) c.736T>G (p.Ser246Ala) n.510T>G | |
12 | g.102852906A>G | CA386295695 | PAH | c.751T>C (p.Ser251Pro) c.736T>C (p.Ser246Pro) n.510T>C | COSMIC |
12 | g.102852906A>T | CA386295692 | PAH | c.751T>A (p.Ser251Thr) c.736T>A (p.Ser246Thr) n.510T>A | |
12 | g.102852907G>A | CA481331540 | PAH | c.750C>T (p.Ser250=) c.735C>T (p.Ser245=) n.509C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102852907G>C | CA481331542 | PAH | c.750C>G (p.Ser250=) c.735C>G (p.Ser245=) n.509C>G | dbSNP |
12 | g.102852907G= | CA2059446560 | PAH | c.750C= (p.Ser250=) c.735C= (p.Ser245=) n.509C= | |
12 | g.102852907G>T | CA481331541 | PAH | c.750C>A (p.Ser250=) c.735C>A (p.Ser245=) n.509C>A | ClinVar dbSNP |
12 | g.102852908G>A | CA386295701 | PAH | c.749C>T (p.Ser250Phe) c.734C>T (p.Ser245Phe) n.508C>T | |
12 | g.102852908G>C | CA386295702 | PAH | c.749C>G (p.Ser250Cys) c.734C>G (p.Ser245Cys) n.508C>G | |
12 | g.102852908G>T | CA386295703 | PAH | c.749C>A (p.Ser250Tyr) c.734C>A (p.Ser245Tyr) n.508C>A | |
12 | g.102852909A>C | CA386295704 | PAH | c.748T>G (p.Ser250Ala) c.733T>G (p.Ser245Ala) n.507T>G | |
12 | g.102852909A>G | CA386295705 | PAH | c.748T>C (p.Ser250Pro) c.733T>C (p.Ser245Pro) n.507T>C |