UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.102852883C>A | CA481331495 | PAH | c.774G>T (p.Leu258=) c.759G>T (p.Leu253=) n.533G>T | ClinVar dbSNP |
| 12 | g.102852883C>G | CA481331497 | PAH | c.774G>C (p.Leu258=) c.759G>C (p.Leu253=) n.533G>C | |
| 12 | g.102852883C>T | CA481331499 | PAH | c.774G>A (p.Leu258=) c.759G>A (p.Leu253=) n.533G>A | ClinVar dbSNP |
| 12 | g.102852884A= | CA2059446471 | PAH | c.773T= (p.Leu258=) c.758T= (p.Leu253=) n.532T= | |
| 12 | g.102852884A>C | CA386295520 | PAH | c.773T>G (p.Leu258Arg) c.758T>G (p.Leu253Arg) n.532T>G | |
| 12 | g.102852884A>G | CA16020855 | PAH | c.773T>C (p.Leu258Pro) c.758T>C (p.Leu253Pro) n.532T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852884A>T | CA386295526 | PAH | c.773T>A (p.Leu258Gln) c.758T>A (p.Leu253Gln) n.532T>A | |
| 12 | g.102852885G>A | CA6748843 | PAH | c.772C>T (p.Leu258=) c.757C>T (p.Leu253=) n.531C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852885G>C | CA386295543 | PAH | c.772C>G (p.Leu258Val) c.757C>G (p.Leu253Val) n.531C>G | |
| 12 | g.102852885G= | CA2059446476 | PAH | c.772C= (p.Leu258=) c.757C= (p.Leu253=) n.531C= | |
| 12 | g.102852885G>T | CA386295529 | PAH | c.772C>A (p.Leu258Met) c.757C>A (p.Leu253Met) n.531C>A | |
| 12 | g.102852886G>A | CA6748844 | PAH | c.771C>T (p.Gly257=) c.756C>T (p.Gly252=) n.530C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852886G>C | CA481331502 | PAH | c.771C>G (p.Gly257=) c.756C>G (p.Gly252=) n.530C>G | |
| 12 | g.102852886G= | CA2059446479 | PAH | c.771C= (p.Gly257=) c.756C= (p.Gly252=) n.530C= | |
| 12 | g.102852886G>T | CA481331503 | PAH | c.771C>A (p.Gly257=) c.756C>A (p.Gly252=) n.530C>A | ClinVar dbSNP |
| 12 | g.102852887C>A | CA229753 | PAH | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) n.529G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852887C= | CA2059446486 | PAH | c.770G= (p.Gly257=) c.755G= (p.Gly252=) n.529G= | |
| 12 | g.102852887C>G | CA386295550 | PAH | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) n.529G>C | |
| 12 | g.102852887C>T | CA229751 | PAH | c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) n.529G>A | ClinVar dbSNP |
| 12 | g.102852888C>A | CA229750 | PAH | c.769G>T (p.Gly257Cys) c.754G>T (p.Gly252Cys) n.528G>T | ClinVar dbSNP |
| 12 | g.102852888C= | CA2059446491 | PAH | c.769G= (p.Gly257=) c.754G= (p.Gly252=) n.528G= | |
| 12 | g.102852888C>G | CA386295558 | PAH | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) n.528G>C | |
| 12 | g.102852888C>T | CA229748 | PAH | c.769G>A (p.Gly257Ser) c.754G>A (p.Gly252Ser) n.528G>A | ClinVar dbSNP |
| 12 | g.102852889A= | CA2059446501 | PAH | c.768T= (p.Gly256=) c.753T= (p.Gly251=) n.527T= | |
| 12 | g.102852889A>C | CA481331510 | PAH | c.768T>G (p.Gly256=) c.753T>G (p.Gly251=) n.527T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852889A>G | CA481331511 | PAH | c.768T>C (p.Gly256=) c.753T>C (p.Gly251=) n.527T>C | |
| 12 | g.102852889A>T | CA481331512 | PAH | c.768T>A (p.Gly256=) c.753T>A (p.Gly251=) n.527T>A | |
| 12 | g.102852890C>A | CA386295577 | PAH | c.767G>T (p.Gly256Val) c.752G>T (p.Gly251Val) n.526G>T | |
| 12 | g.102852890C>G | CA386295568 | PAH | c.767G>C (p.Gly256Ala) c.752G>C (p.Gly251Ala) n.526G>C | gnomAD v4 |
| 12 | g.102852890C>T | CA386295573 | PAH | c.767G>A (p.Gly256Asp) c.752G>A (p.Gly251Asp) n.526G>A | |
| 12 | g.102852891C>A | CA386295581 | PAH | c.766G>T (p.Gly256Cys) c.751G>T (p.Gly251Cys) n.525G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852891C= | CA2059446506 | PAH | c.766G= (p.Gly256=) c.751G= (p.Gly251=) n.525G= | |
| 12 | g.102852891C>G | CA386295584 | PAH | c.766G>C (p.Gly256Arg) c.751G>C (p.Gly251Arg) n.525G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852891C>T | CA386295587 | PAH | c.766G>A (p.Gly256Ser) c.751G>A (p.Gly251Ser) n.525G>A | dbSNP |
| 12 | g.102852892C>A | CA386295590 | PAH | c.765G>T (p.Leu255Phe) c.750G>T (p.Leu250Phe) n.524G>T | |
| 12 | g.102852892C= | CA2059446509 | PAH | c.765G= (p.Leu255=) c.750G= (p.Leu250=) n.524G= | |
| 12 | g.102852892C>G | CA386295593 | PAH | c.765G>C (p.Leu255Phe) c.750G>C (p.Leu250Phe) n.524G>C | |
| 12 | g.102852892C>T | CA481331514 | PAH | c.765G>A (p.Leu255=) c.750G>A (p.Leu250=) n.524G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852893A= | CA2059446513 | PAH | c.764T= (p.Leu255=) c.749T= (p.Leu250=) n.523T= | |
| 12 | g.102852893A>C | CA386295604 | PAH | c.764T>G (p.Leu255Trp) c.749T>G (p.Leu250Trp) n.523T>G | |
| 12 | g.102852893A>G | CA229747 | PAH | c.764T>C (p.Leu255Ser) c.749T>C (p.Leu250Ser) n.523T>C | ClinVar dbSNP |
| 12 | g.102852893A>T | CA386295600 | PAH | c.764T>A (p.Leu255Ter) c.749T>A (p.Leu250Ter) n.523T>A | |
| 12 | g.102852894A= | CA2059446519 | PAH | c.763T= (p.Leu255=) c.748T= (p.Leu250=) n.522T= | |
| 12 | g.102852894A>C | CA229746 | PAH | c.763T>G (p.Leu255Val) c.748T>G (p.Leu250Val) n.522T>G | ClinVar dbSNP |
| 12 | g.102852894A>G | CA481331517 | PAH | c.763T>C (p.Leu255=) c.748T>C (p.Leu250=) n.522T>C | |
| 12 | g.102852894A>T | CA386295609 | PAH | c.763T>A (p.Leu255Met) c.748T>A (p.Leu250Met) n.522T>A | |
| 12 | g.102852895G>A | CA481331519 | PAH | c.762C>T (p.Phe254=) c.747C>T (p.Phe249=) n.521C>T | |
| 12 | g.102852895G>C | CA386295614 | PAH | c.762C>G (p.Phe254Leu) c.747C>G (p.Phe249Leu) n.521C>G | |
| 12 | g.102852895G>T | CA386295615 | PAH | c.762C>A (p.Phe254Leu) c.747C>A (p.Phe249Leu) n.521C>A | |
| 12 | g.102852896A>C | CA386295616 | PAH | c.761T>G (p.Phe254Cys) c.746T>G (p.Phe249Cys) n.520T>G | |
| 12 | g.102852896A>G | CA386295619 | PAH | c.761T>C (p.Phe254Ser) c.746T>C (p.Phe249Ser) n.520T>C | |
| 12 | g.102852896A>T | CA386295623 | PAH | c.761T>A (p.Phe254Tyr) c.746T>A (p.Phe249Tyr) n.520T>A | |
| 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 | |
| 12 | g.102852909A>T | CA386295706 | PAH | c.748T>A (p.Ser250Thr) c.733T>A (p.Ser245Thr) n.507T>A | |
| 12 | g.102852910A= | CA2059446564 | PAH | c.747T= (p.Leu249=) c.732T= (p.Leu244=) n.506T= | |
| 12 | g.102852910A>C | CA481331545 | PAH | c.747T>G (p.Leu249=) c.732T>G (p.Leu244=) n.506T>G | dbSNP |
| 12 | g.102852910A>G | CA481331547 | PAH | c.747T>C (p.Leu249=) c.732T>C (p.Leu244=) n.506T>C | COSMIC |
| 12 | g.102852910A>T | CA481331546 | PAH | c.747T>A (p.Leu249=) c.732T>A (p.Leu244=) n.506T>A | |
| 12 | g.102852911A= | CA2059446571 | PAH | c.746T= (p.Leu249=) c.731T= (p.Leu244=) n.505T= | |
| 12 | g.102852911A>C | CA386295707 | PAH | c.746T>G (p.Leu249Arg) c.731T>G (p.Leu244Arg) n.505T>G | |
| 12 | g.102852911A>G | CA16020851 | PAH | c.746T>C (p.Leu249Pro) c.731T>C (p.Leu244Pro) n.505T>C | |
| 12 | g.102852911A>T | CA229740 | PAH | c.746T>A (p.Leu249His) c.731T>A (p.Leu244His) n.505T>A | ClinVar dbSNP |
| 12 | g.102852911_102852912delinsAG | CA2059446570 | PAH | c.745_746delinsCT (p.Leu249=) c.730_731delinsCT (p.Leu244=) n.504_505delinsCT | |
| 12 | g.102852912del | CA16020850 | PAH | c.745del (p.Leu249PhefsTer?) c.730del (p.Leu244PhefsTer?) n.504del | ClinVar dbSNP |
| 12 | g.102852912G>A | CA273356 | PAH | c.745C>T (p.Leu249Phe) c.730C>T (p.Leu244Phe) n.504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852912G>C | CA386295713 | PAH | c.745C>G (p.Leu249Val) c.730C>G (p.Leu244Val) n.504C>G | |
| 12 | g.102852912G= | CA2059446581 | PAH | c.745C= (p.Leu249=) c.730C= (p.Leu244=) n.504C= | |
| 12 | g.102852912G>T | CA386295716 | PAH | c.745C>A (p.Leu249Ile) c.730C>A (p.Leu244Ile) n.504C>A | |
| 12 | g.102852913C>A | CA481331549 | PAH | c.744G>T (p.Leu248=) c.729G>T (p.Leu243=) n.503G>T | |
| 12 | g.102852913C= | CA2059446583 | PAH | c.744G= (p.Leu248=) c.729G= (p.Leu243=) n.503G= | |
| 12 | g.102852913C>G | CA481331550 | PAH | c.744G>C (p.Leu248=) c.729G>C (p.Leu243=) n.503G>C | |
| 12 | g.102852913C>T | CA481331551 | PAH | c.744G>A (p.Leu248=) c.729G>A (p.Leu243=) n.503G>A | dbSNP |
| 12 | g.102852917_102852927del | CA2620515166 | PAH | c.734_744del (p.Val245AlafsTer?) c.719_729del (p.Val240AlafsTer?) n.493_503del | gnomAD v4 |
| 12 | g.102852914del | CA2695217156 | PAH | c.743del (p.Leu248ArgfsTer?) c.728del (p.Leu243ArgfsTer?) n.502del | |
| 12 | g.102852914A= | CA2059446586 | PAH | c.743T= (p.Leu248=) c.728T= (p.Leu243=) n.502T= | |
| 12 | g.102852914A>C | CA229738 | PAH | c.743T>G (p.Leu248Arg) c.728T>G (p.Leu243Arg) n.502T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852914A>G | CA229737 | PAH | c.743T>C (p.Leu248Pro) c.728T>C (p.Leu243Pro) n.502T>C | ClinVar dbSNP |
| 12 | g.102852914A>T | CA386295720 | PAH | c.743T>A (p.Leu248Gln) c.728T>A (p.Leu243Gln) n.502T>A | |
| 12 | g.102852915G>A | CA481331552 | PAH | c.742C>T (p.Leu248=) c.727C>T (p.Leu243=) n.501C>T | ClinVar dbSNP |
| 12 | g.102852915G>C | CA386295732 | PAH | c.742C>G (p.Leu248Val) c.727C>G (p.Leu243Val) n.501C>G | |
| 12 | g.102852915G= | CA2059446592 | PAH | c.742C= (p.Leu248=) c.727C= (p.Leu243=) n.501C= | |
| 12 | g.102852915G>T | CA386295729 | PAH | c.742C>A (p.Leu248Met) c.727C>A (p.Leu243Met) n.501C>A | |
| 12 | g.102852916G>A | CA481331553 | PAH | c.741C>T (p.Gly247=) c.726C>T (p.Gly242=) n.500C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102852916G>C | CA481331554 | PAH | c.741C>G (p.Gly247=) c.726C>G (p.Gly242=) n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852916G= | CA2059446595 | PAH | c.741C= (p.Gly247=) c.726C= (p.Gly242=) n.500C= | |
| 12 | g.102852916G>T | CA481331555 | PAH | c.741C>A (p.Gly247=) c.726C>A (p.Gly242=) n.500C>A | gnomAD v4 |
| 12 | g.102852917C>A | CA229736 | PAH | c.740G>T (p.Gly247Val) c.725G>T (p.Gly242Val) n.499G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852917C= | CA2059446602 | PAH | c.740G= (p.Gly247=) c.725G= (p.Gly242=) n.499G= | |
| 12 | g.102852917C>G | CA386295738 | PAH | c.740G>C (p.Gly247Ala) c.725G>C (p.Gly242Ala) n.499G>C | |
| 12 | g.102852917C>T | CA229734 | PAH | c.740G>A (p.Gly247Asp) c.725G>A (p.Gly242Asp) n.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852918del | CA16020849 | PAH | c.740del (p.Gly247AlafsTer?) c.725del (p.Gly242AlafsTer?) n.499del | ClinVar dbSNP |
| 12 | g.102852918C>A | CA386295742 | PAH | c.739G>T (p.Gly247Cys) c.724G>T (p.Gly242Cys) n.498G>T | |
| 12 | g.102852918C= | CA2059446610 | PAH | c.739G= (p.Gly247=) c.724G= (p.Gly242=) n.498G= | |
| 12 | g.102852918C>G | CA229732 | PAH | c.739G>C (p.Gly247Arg) c.724G>C (p.Gly242Arg) n.498G>C | ClinVar dbSNP |
| 12 | g.102852918C>T | CA229730 | PAH | c.739G>A (p.Gly247Ser) c.724G>A (p.Gly242Ser) n.498G>A | ClinVar dbSNP COSMIC |
| 12 | g.102852919A>C | CA481331558 | PAH | c.738T>G (p.Ala246=) c.723T>G (p.Ala241=) n.497T>G | |
| 12 | g.102852919A>G | CA481331557 | PAH | c.738T>C (p.Ala246=) c.723T>C (p.Ala241=) n.497T>C | |
| 12 | g.102852919A>T | CA481331556 | PAH | c.738T>A (p.Ala246=) c.723T>A (p.Ala241=) n.497T>A | |
| 12 | g.102852919_102852920delinsAG | CA2059446615 | PAH | c.737_738delinsCT (p.Ala246=) c.722_723delinsCT (p.Ala241=) n.496_497delinsCT | |
| 12 | g.102852920del | CA229729 | PAH | c.737del (p.Ala246ValfsTer?) c.722del (p.Ala241ValfsTer?) n.496del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852920G>A | CA229727 | PAH | c.737C>T (p.Ala246Val) c.722C>T (p.Ala241Val) n.496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852920G>C | CA386295751 | PAH | c.737C>G (p.Ala246Gly) c.722C>G (p.Ala241Gly) n.496C>G | |
| 12 | g.102852920G= | CA2059446627 | PAH | c.737C= (p.Ala246=) c.722C= (p.Ala241=) n.496C= | |
| 12 | g.102852920G>T | CA229726 | PAH | c.737C>A (p.Ala246Asp) c.722C>A (p.Ala241Asp) n.496C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852921C>A | CA386295757 | PAH | c.736G>T (p.Ala246Ser) c.721G>T (p.Ala241Ser) n.495G>T | |
| 12 | g.102852921C= | CA2059446633 | PAH | c.736G= (p.Ala246=) c.721G= (p.Ala241=) n.495G= | |
| 12 | g.102852921C>G | CA386295761 | PAH | c.736G>C (p.Ala246Pro) c.721G>C (p.Ala241Pro) n.495G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852921C>T | CA386295762 | PAH | c.736G>A (p.Ala246Thr) c.721G>A (p.Ala241Thr) n.495G>A | |
| 12 | g.102852922C>A | CA481331559 | PAH | c.735G>T (p.Val245=) c.720G>T (p.Val240=) n.494G>T | dbSNP |
| 12 | g.102852922C= | CA2059446637 | PAH | c.735G= (p.Val245=) c.720G= (p.Val240=) n.494G= | |
| 12 | g.102852922C>G | CA481331560 | PAH | c.735G>C (p.Val245=) c.720G>C (p.Val240=) n.494G>C | dbSNP |
| 12 | g.102852922C>T | CA145982 | PAH | c.735G>A (p.Val245=) c.720G>A (p.Val240=) n.494G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.[102852922C>T;102852935del] | CA645372919 | PAH | c.[722del;735G>A] (p.Arg241ProfsTer5) c.[707del;720G>A] (p.Arg236ProfsTer5) n.[481del;494G>A] | ClinVar |
| 12 | g.102852922_102852923delinsCA | CA2059446641 | PAH | c.734_735delinsTG (p.Val245=) c.719_720delinsTG (p.Val240=) n.493_494delinsTG | |
| 12 | g.102852922_102852923delinsTG | CA312809 | PAH | c.734_735delinsCA (p.Val245Ala) c.719_720delinsCA (p.Val240Ala) n.493_494delinsCA | ClinVar dbSNP |
| 12 | g.102852922_102852924delinsTAG | CA2580614529 | PAH | c.733_735delinsCTA (p.Val245Leu) c.718_720delinsCTA (p.Val240Leu) n.492_494delinsCTA | ClinVar |
| 12 | g.102852922_102852935delinsTACAGGTCGGAGG | CA2580085703 | PAH | c.722_735delinsCCTCCGACCTGTA (p.Arg241ProfsTer5) c.707_720delinsCCTCCGACCTGTA (p.Arg236ProfsTer5) n.481_494delinsCCTCCGACCTGTA | ClinVar dbSNP |
| 12 | g.102852923A= | CA2059446652 | PAH | c.734T= (p.Val245=) c.719T= (p.Val240=) n.493T= | |
| 12 | g.102852923A>C | CA386295770 | PAH | c.734T>G (p.Val245Gly) c.719T>G (p.Val240Gly) n.493T>G | |
| 12 | g.102852923A>G | CA114372 | PAH | c.734T>C (p.Val245Ala) c.719T>C (p.Val240Ala) n.493T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852923A>T | CA229725 | PAH | c.734T>A (p.Val245Glu) c.719T>A (p.Val240Glu) n.493T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852924C>A | CA386295775 | PAH | c.733G>T (p.Val245Leu) c.718G>T (p.Val240Leu) n.492G>T | |
| 12 | g.102852924C= | CA2059446655 | PAH | c.733G= (p.Val245=) c.718G= (p.Val240=) n.492G= | |
| 12 | g.102852924C>G | CA229724 | PAH | c.733G>C (p.Val245Leu) c.718G>C (p.Val240Leu) n.492G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852924C>T | CA229722 | PAH | c.733G>A (p.Val245Met) c.718G>A (p.Val240Met) n.492G>A | ClinVar dbSNP |
| 12 | g.102852925A>C | CA481331562 | PAH | c.732T>G (p.Pro244=) c.717T>G (p.Pro239=) n.491T>G | ClinVar |
| 12 | g.102852925A>G | CA481331563 | PAH | c.732T>C (p.Pro244=) c.717T>C (p.Pro239=) n.491T>C | gnomAD v4 |
| 12 | g.102852925A>T | CA481331564 | PAH | c.732T>A (p.Pro244=) c.717T>A (p.Pro239=) n.491T>A | |
| 12 | g.102852926G>A | CA229721 | PAH | c.731C>T (p.Pro244Leu) c.716C>T (p.Pro239Leu) n.490C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852926G>C | CA386295782 | PAH | c.731C>G (p.Pro244Arg) c.716C>G (p.Pro239Arg) n.490C>G | |
| 12 | g.102852926G= | CA2059446659 | PAH | c.731C= (p.Pro244=) c.716C= (p.Pro239=) n.490C= | |
| 12 | g.102852926G>T | CA386295785 | PAH | c.731C>A (p.Pro244His) c.716C>A (p.Pro239His) n.490C>A | |
| 12 | g.102852927G>A | CA16020848 | PAH | c.730C>T (p.Pro244Ser) c.715C>T (p.Pro239Ser) n.489C>T | ClinVar dbSNP |
| 12 | g.102852927G>C | CA386295787 | PAH | c.730C>G (p.Pro244Ala) c.715C>G (p.Pro239Ala) n.489C>G | |
| 12 | g.102852927G>T | CA386295790 | PAH | c.730C>A (p.Pro244Thr) c.715C>A (p.Pro239Thr) n.489C>A | |
| 12 | g.102852928T>A | CA481331567 | PAH | c.729A>T (p.Arg243=) c.714A>T (p.Arg238=) n.488A>T | dbSNP |
| 12 | g.102852928T>C | CA481331566 | PAH | c.729A>G (p.Arg243=) c.714A>G (p.Arg238=) n.488A>G | |
| 12 | g.102852928T>G | CA481331565 | PAH | c.729A>C (p.Arg243=) c.714A>C (p.Arg238=) n.488A>C | |
| 12 | g.102852928T= | CA2059446663 | PAH | c.729A= (p.Arg243=) c.714A= (p.Arg238=) n.488A= | |
| 12 | g.102852929C>A | CA229719 | PAH | c.728G>T (p.Arg243Leu) c.713G>T (p.Arg238Leu) n.487G>T | ClinVar dbSNP |
| 12 | g.102852929C= | CA2059446670 | PAH | c.728G= (p.Arg243=) c.713G= (p.Arg238=) n.487G= | |
| 12 | g.102852929C>G | CA386295796 | PAH | c.728G>C (p.Arg243Pro) c.713G>C (p.Arg238Pro) n.487G>C | |
| 12 | g.102852929C>T | CA251531 | PAH | c.728G>A (p.Arg243Gln) c.713G>A (p.Arg238Gln) n.487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852930G>A | CA220585 | PAH | c.727C>T (p.Arg243Ter) c.712C>T (p.Arg238Ter) n.486C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852930G>C | CA386295803 | PAH | c.727C>G (p.Arg243Gly) c.712C>G (p.Arg238Gly) n.486C>G | |
| 12 | g.102852930G= | CA2059446676 | PAH | c.727C= (p.Arg243=) c.712C= (p.Arg238=) n.486C= | |
| 12 | g.102852930G>T | CA481331568 | PAH | c.727C>A (p.Arg243=) c.712C>A (p.Arg238=) n.486C>A | |
| 12 | g.102852931G>A | CA481331569 | PAH | c.726C>T (p.Leu242=) c.711C>T (p.Leu237=) n.485C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852931G>C | CA481331570 | PAH | c.726C>G (p.Leu242=) c.711C>G (p.Leu237=) n.485C>G | |
| 12 | g.102852931G= | CA2059446679 | PAH | c.726C= (p.Leu242=) c.711C= (p.Leu237=) n.485C= | |
| 12 | g.102852931G>T | CA481331571 | PAH | c.726C>A (p.Leu242=) c.711C>A (p.Leu237=) n.485C>A | |
| 12 | g.102852932A>C | CA386295806 | PAH | c.725T>G (p.Leu242Arg) c.710T>G (p.Leu237Arg) n.484T>G | |
| 12 | g.102852932A>G | CA386295808 | PAH | c.725T>C (p.Leu242Pro) c.710T>C (p.Leu237Pro) n.484T>C | |
| 12 | g.102852932A>T | CA386295811 | PAH | c.725T>A (p.Leu242His) c.710T>A (p.Leu237His) n.484T>A | gnomAD v4 |
| 12 | g.102852933G>A | CA229718 | PAH | c.724C>T (p.Leu242Phe) c.709C>T (p.Leu237Phe) n.483C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852933G>C | CA386295816 | PAH | c.724C>G (p.Leu242Val) c.709C>G (p.Leu237Val) n.483C>G | |
| 12 | g.102852933G= | CA2059446681 | PAH | c.724C= (p.Leu242=) c.709C= (p.Leu237=) n.483C= | |
| 12 | g.102852933G>T | CA386295819 | PAH | c.724C>A (p.Leu242Ile) c.709C>A (p.Leu237Ile) n.483C>A | |
| 12 | g.102852934del | CA2695217157 | PAH | c.724del (p.Leu242SerfsTer?) c.709del (p.Leu237SerfsTer?) n.483del | |
| 12 | g.102852934G>A | CA481331574 | PAH | c.723C>T (p.Arg241=) c.708C>T (p.Arg236=) n.482C>T | gnomAD v4 |
| 12 | g.102852934G>C | CA481331572 | PAH | c.723C>G (p.Arg241=) c.708C>G (p.Arg236=) n.482C>G | |
| 12 | g.102852934G>T | CA481331573 | PAH | c.723C>A (p.Arg241=) c.708C>A (p.Arg236=) n.482C>A | |
| 12 | g.102852934_102852935delinsGC | CA2059446685 | PAH | c.722_723delinsGC (p.Arg241=) c.707_708delinsGC (p.Arg236=) n.481_482delinsGC | |
| 12 | g.102852935del | CA229717 | PAH | c.722del (p.Arg241ProfsTer?) c.707del (p.Arg236ProfsTer?) n.481del | ClinVar dbSNP |
| 12 | g.102852935C>A | CA229716 | PAH | c.722G>T (p.Arg241Leu) c.707G>T (p.Arg236Leu) n.481G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852935C= | CA2059446693 | PAH | c.722G= (p.Arg241=) c.707G= (p.Arg236=) n.481G= | |
| 12 | g.102852935C>G | CA386295825 | PAH | c.722G>C (p.Arg241Pro) c.707G>C (p.Arg236Pro) n.481G>C | |
| 12 | g.102852935C>T | CA286507 | PAH | c.722G>A (p.Arg241His) c.707G>A (p.Arg236His) n.481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852936G>A | CA273357 | PAH | c.721C>T (p.Arg241Cys) c.706C>T (p.Arg236Cys) n.480C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852936G>C | CA386295833 | PAH | c.721C>G (p.Arg241Gly) c.706C>G (p.Arg236Gly) n.480C>G | |
| 12 | g.102852936G= | CA2059446698 | PAH | c.721C= (p.Arg241=) c.706C= (p.Arg236=) n.480C= | |
| 12 | g.102852936G>T | CA386295836 | PAH | c.721C>A (p.Arg241Ser) c.706C>A (p.Arg236Ser) n.480C>A | ClinVar dbSNP |
| 12 | g.102852937G>A | CA481331575 | PAH | c.720C>T (p.Phe240=) c.705C>T (p.Phe235=) n.479C>T | ClinVar |
| 12 | g.102852937G>C | CA386295838 | PAH | c.720C>G (p.Phe240Leu) c.705C>G (p.Phe235Leu) n.479C>G | |
| 12 | g.102852937G>T | CA386295840 | PAH | c.720C>A (p.Phe240Leu) c.705C>A (p.Phe235Leu) n.479C>A | |
| 12 | g.102852938A= | CA2059446702 | PAH | c.719T= (p.Phe240=) c.704T= (p.Phe235=) n.478T= | |
| 12 | g.102852938A>C | CA386295844 | PAH | c.719T>G (p.Phe240Cys) c.704T>G (p.Phe235Cys) n.478T>G | COSMIC |
| 12 | g.102852938A>G | CA229715 | PAH | c.719T>C (p.Phe240Ser) c.704T>C (p.Phe235Ser) n.478T>C | ClinVar dbSNP |
| 12 | g.102852938A>T | CA386295845 | PAH | c.719T>A (p.Phe240Tyr) c.704T>A (p.Phe235Tyr) n.478T>A | |
| 12 | g.102852939A= | CA2059446708 | PAH | c.718T= (p.Phe240=) c.703T= (p.Phe235=) n.477T= | |
| 12 | g.102852939A>C | CA229713 | PAH | c.718T>G (p.Phe240Val) c.703T>G (p.Phe235Val) n.477T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852939A>G | CA386295846 | PAH | c.718T>C (p.Phe240Leu) c.703T>C (p.Phe235Leu) n.477T>C | |
| 12 | g.102852939A>T | CA386295847 | PAH | c.718T>A (p.Phe240Ile) c.703T>A (p.Phe235Ile) n.477T>A | |
| 12 | g.102852940A>C | CA481331576 | PAH | c.717T>G (p.Gly239=) c.702T>G (p.Gly234=) n.476T>G | |
| 12 | g.102852940A>G | CA481331577 | PAH | c.717T>C (p.Gly239=) c.702T>C (p.Gly234=) n.476T>C | |
| 12 | g.102852940A>T | CA481331578 | PAH | c.717T>A (p.Gly239=) c.702T>A (p.Gly234=) n.476T>A | |
| 12 | g.102852941C>A | CA229711 | PAH | c.716G>T (p.Gly239Val) c.701G>T (p.Gly234Val) n.475G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852941C= | CA2059446718 | PAH | c.716G= (p.Gly239=) c.701G= (p.Gly234=) n.475G= | |
| 12 | g.102852941C>G | CA229709 | PAH | c.716G>C (p.Gly239Ala) c.701G>C (p.Gly234Ala) n.475G>C | ClinVar dbSNP |
| 12 | g.102852941C>T | CA229707 | PAH | c.716G>A (p.Gly239Asp) c.701G>A (p.Gly234Asp) n.475G>A | ClinVar dbSNP |
| 12 | g.102852942C>A | CA386295848 | PAH | c.715G>T (p.Gly239Cys) c.700G>T (p.Gly234Cys) n.474G>T | |
| 12 | g.102852942C= | CA2059446723 | PAH | c.715G= (p.Gly239=) c.700G= (p.Gly234=) n.474G= | |
| 12 | g.102852942C>G | CA386295849 | PAH | c.715G>C (p.Gly239Arg) c.700G>C (p.Gly234Arg) n.474G>C | dbSNP gnomAD v4 |
| 12 | g.102852942C>T | CA229706 | PAH | c.715G>A (p.Gly239Ser) c.700G>A (p.Gly234Ser) n.474G>A | ClinVar dbSNP |
| 12 | g.102852943A>C | CA481331582 | PAH | c.714T>G (p.Thr238=) c.699T>G (p.Thr233=) n.473T>G | |
| 12 | g.102852943A>G | CA481331581 | PAH | c.714T>C (p.Thr238=) c.699T>C (p.Thr233=) n.473T>C | ClinVar |
| 12 | g.102852943A>T | CA481331580 | PAH | c.714T>A (p.Thr238=) c.699T>A (p.Thr233=) n.473T>A | ClinVar dbSNP |
| 12 | g.102852944G>A | CA386295852 | PAH | c.713C>T (p.Thr238Ile) c.698C>T (p.Thr233Ile) n.472C>T | ClinVar |
| 12 | g.102852944G>C | CA386295851 | PAH | c.713C>G (p.Thr238Ser) c.698C>G (p.Thr233Ser) n.472C>G | |
| 12 | g.102852944G>T | CA386295850 | PAH | c.713C>A (p.Thr238Asn) c.698C>A (p.Thr233Asn) n.472C>A | |
| 12 | g.102852945T>A | CA386295853 | PAH | c.712A>T (p.Thr238Ser) c.697A>T (p.Thr233Ser) n.471A>T | gnomAD v4 |
| 12 | g.102852945T>C | CA16020847 | PAH | c.712A>G (p.Thr238Ala) c.697A>G (p.Thr233Ala) n.471A>G | ClinVar dbSNP |
| 12 | g.102852945T>G | CA229705 | PAH | c.712A>C (p.Thr238Pro) c.697A>C (p.Thr233Pro) n.471A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852945T= | CA2059446738 | PAH | c.712A= (p.Thr238=) c.697A= (p.Thr233=) n.471A= | |
| 12 | g.102852945_102852962delinsTGCAAGCTGGGATGAAAA | CA2059446741 | PAH | c.707-12_712delinsTTTTCATCCCAGCTTGCA c.692-12_697delinsTTTTCATCCCAGCTTGCA n.454_471delinsTTTTCATCCCAGCTTGCA | |
| 12 | g.102852946G>A | CA481331583 | PAH | c.711C>T (p.Cys237=) c.696C>T (p.Cys232=) n.470C>T | |
| 12 | g.102852946G>C | CA386295854 | PAH | c.711C>G (p.Cys237Trp) c.696C>G (p.Cys232Trp) n.470C>G | |
| 12 | g.102852946G>T | CA386295855 | PAH | c.711C>A (p.Cys237Ter) c.696C>A (p.Cys232Ter) n.470C>A | |
| 12 | g.102852947_102852963del | CA658797946 | PAH | c.707-12_711del c.692-12_696del n.454_470del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852947C>A | CA386295856 | PAH | c.710G>T (p.Cys237Phe) c.695G>T (p.Cys232Phe) n.469G>T | |
| 12 | g.102852947C>G | CA386295858 | PAH | c.710G>C (p.Cys237Ser) c.695G>C (p.Cys232Ser) n.469G>C | |
| 12 | g.102852947C>T | CA386295857 | PAH | c.710G>A (p.Cys237Tyr) c.695G>A (p.Cys232Tyr) n.469G>A | |
| 12 | g.102852948A= | CA2059446749 | PAH | c.709T= (p.Cys237=) c.694T= (p.Cys232=) n.468T= | |
| 12 | g.102852948A>C | CA386295859 | PAH | c.709T>G (p.Cys237Gly) c.694T>G (p.Cys232Gly) n.468T>G | |
| 12 | g.102852948A>G | CA6748847 | PAH | c.709T>C (p.Cys237Arg) c.694T>C (p.Cys232Arg) n.468T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852948A>T | CA386295860 | PAH | c.709T>A (p.Cys237Ser) c.694T>A (p.Cys232Ser) n.468T>A | |
| 12 | g.102852949A>C | CA481331584 | PAH | c.708T>G (p.Thr236=) c.693T>G (p.Thr231=) n.467T>G | |
| 12 | g.102852949A>G | CA481331586 | PAH | c.708T>C (p.Thr236=) c.693T>C (p.Thr231=) n.467T>C | |
| 12 | g.102852949A>T | CA481331585 | PAH | c.708T>A (p.Thr236=) c.693T>A (p.Thr231=) n.467T>A | |
| 12 | g.102852950G>A | CA386295861 | PAH | c.707C>T (p.Thr236Ile) c.692C>T (p.Thr231Ile) n.466C>T | gnomAD v4 |
| 12 | g.102852950G>C | CA386295862 | PAH | c.707C>G (p.Thr236Ser) c.692C>G (p.Thr231Ser) n.466C>G | dbSNP |
| 12 | g.102852950G= | CA2059446752 | PAH | c.707C= (p.Thr236=) c.692C= (p.Thr231=) n.466C= | |
| 12 | g.102852950G>T | CA386295863 | PAH | c.707C>A (p.Thr236Asn) c.692C>A (p.Thr231Asn) n.466C>A | |
| 12 | g.102852951C>A | CA386295864 | PAH | c.707-1G>T (n.707-1G>T) c.692-1G>T (n.692-1G>T) n.465G>T | gnomAD v4 |
| 12 | g.102852951C= | CA2059446755 | PAH | c.707-1G= (n.707-1G=) c.692-1G= (n.692-1G=) n.465G= | |
| 12 | g.102852951C>G | CA386295865 | PAH | c.707-1G>C (n.707-1G>C) c.692-1G>C (n.692-1G>C) n.465G>C | ClinVar dbSNP |
| 12 | g.102852951C>T | CA229703 | PAH | c.707-1G>A (n.707-1G>A) c.692-1G>A (n.692-1G>A) n.465G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852951_102852952delinsCT | CA2059446759 | PAH | c.707-2_707-1delinsAG (n.707-2_707-1delinsAG) c.692-2_692-1delinsAG (n.692-2_692-1delinsAG) n.464_465delinsAG | |
| 12 | g.102852952del | CA16020846 | PAH | c.707-2del (n.707-2del) c.692-2del (n.692-2del) n.464del | ClinVar dbSNP |
| 12 | g.102852952T>A | CA386295866 | PAH | c.707-2A>T (n.707-2A>T) c.692-2A>T (n.692-2A>T) n.464A>T | ClinVar gnomAD v4 |
| 12 | g.102852952T>C | CA229704 | PAH | c.707-2A>G (n.707-2A>G) c.692-2A>G (n.692-2A>G) n.464A>G | ClinVar dbSNP COSMIC |
| 12 | g.102852952T>G | CA386295867 | PAH | c.707-2A>C (n.707-2A>C) c.692-2A>C (n.692-2A>C) n.464A>C | |
| 12 | g.102852952T= | CA2059446767 | PAH | c.707-2A= (n.707-2A=) c.692-2A= (n.692-2A=) n.464A= | |
| 12 | g.102852953G>A | CA607154747 | PAH | c.707-3C>T (n.707-3C>T) c.692-3C>T (n.692-3C>T) n.463C>T | dbSNP gnomAD v2 |
| 12 | g.102852953G= | CA2059446771 | PAH | c.707-3C= (n.707-3C=) c.692-3C= (n.692-3C=) n.463C= | |
| 12 | g.102852954G= | CA2059446778 | PAH | c.707-4C= (n.707-4C=) c.692-4C= (n.692-4C=) n.462C= | |
| 12 | g.102852954G>T | CA6748848 | PAH | c.707-4C>A (n.707-4C>A) c.692-4C>A (n.692-4C>A) n.462C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852955G= | CA2059446782 | PAH | c.707-5C= (n.707-5C=) c.692-5C= (n.692-5C=) n.461C= | |
| 12 | g.102852955G>T | CA6748849 | PAH | c.707-5C>A (n.707-5C>A) c.692-5C>A (n.692-5C>A) n.461C>A | dbSNP ExAC gnomAD v4 |
| 12 | g.102852957T>A | CA180267 | PAH | c.707-7A>T (n.707-7A>T) c.692-7A>T (n.692-7A>T) n.459A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852957T>C | CA2581110830 | PAH | c.707-7A>G (n.707-7A>G) c.692-7A>G (n.692-7A>G) n.459A>G | |
| 12 | g.102852957T>G | CA2581110829 | PAH | c.707-7A>C (n.707-7A>C) c.692-7A>C (n.692-7A>C) n.459A>C | gnomAD v4 |
| 12 | g.102852957T= | CA2059446783 | PAH | c.707-7A= (n.707-7A=) c.692-7A= (n.692-7A=) n.459A= | |
| 12 | g.102852958G>A | CA6748850 | PAH | c.707-8C>T (n.707-8C>T) c.692-8C>T (n.692-8C>T) n.458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852958G= | CA2059446787 | PAH | c.707-8C= (n.707-8C=) c.692-8C= (n.692-8C=) n.458C= | |
| 12 | g.102852959A>C | CA2726968885 | PAH | c.707-9T>G (n.707-9T>G) c.692-9T>G (n.692-9T>G) n.457T>G | dbSNP |
| 12 | g.102852961A>G | CA2575266885 | PAH | c.707-11T>C (n.707-11T>C) c.692-11T>C (n.692-11T>C) n.455T>C | gnomAD v4 |
| 12 | g.102852962A= | CA2059446790 | PAH | c.707-12T= (n.707-12T=) c.692-12T= (n.692-12T=) n.454T= | |
| 12 | g.102852962A>C | CA242472258 | PAH | c.707-12T>G (n.707-12T>G) c.692-12T>G (n.692-12T>G) n.454T>G | dbSNP |
| 12 | g.102852962A>G | CA2697551516 | PAH | c.707-12T>C (n.707-12T>C) c.692-12T>C (n.692-12T>C) n.454T>C | ClinVar |
| 12 | g.102852964A= | CA2059446792 | PAH | c.707-14T= (n.707-14T=) c.692-14T= (n.692-14T=) n.452T= | |
| 12 | g.102852964A>G | CA2059446794 | PAH | c.707-14T>C (n.707-14T>C) c.692-14T>C (n.692-14T>C) n.452T>C | dbSNP gnomAD v4 |
| 12 | g.102852970_102852973del | CA2620515471 | PAH | c.707-17_707-14del (n.707-17_707-14del) c.692-17_692-14del (n.692-17_692-14del) n.449_452del | ClinVar gnomAD v4 |
| 12 | g.102852965A= | CA2059446795 | PAH | c.707-15T= (n.707-15T=) c.692-15T= (n.692-15T=) n.451T= | |
| 12 | g.102852965_102852966insTGAGGTTTG | CA6748851 | PAH | c.707-16_707-15insCAAACCTCA (n.707-16_707-15insCAAACCTCA) c.692-16_692-15insCAAACCTCA (n.692-16_692-15insCAAACCTCA) n.450_451insCAAACCTCA | dbSNP ExAC |
| 12 | g.102852966G>C | CA655151097 | PAH | c.707-16C>G (n.707-16C>G) c.692-16C>G (n.692-16C>G) n.450C>G | COSMIC |
| 12 | g.102852967A= | CA2059446797 | PAH | c.707-17T= (n.707-17T=) c.692-17T= (n.692-17T=) n.449T= | |
| 12 | g.102852967A>G | CA6748852 | PAH | c.707-17T>C (n.707-17T>C) c.692-17T>C (n.692-17T>C) n.449T>C | dbSNP ExAC gnomAD v2 |
| 12 | g.102852968A= | CA2059446799 | PAH | c.707-18T= (n.707-18T=) c.692-18T= (n.692-18T=) n.448T= | |
| 12 | g.102852968A>C | CA242472270 | PAH | c.707-18T>G (n.707-18T>G) c.692-18T>G (n.692-18T>G) n.448T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852968A>G | CA2059446800 | PAH | c.707-18T>C (n.707-18T>C) c.692-18T>C (n.692-18T>C) n.448T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852969A= | CA2059446801 | PAH | c.707-19T= (n.707-19T=) c.692-19T= (n.692-19T=) n.447T= | |
| 12 | g.102852969A>G | CA607154748 | PAH | c.707-19T>C (n.707-19T>C) c.692-19T>C (n.692-19T>C) n.447T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852970_102852971delinsGA | CA2059446803 | PAH | c.707-21_707-20delinsTC (n.707-21_707-20delinsTC) c.692-21_692-20delinsTC (n.692-21_692-20delinsTC) n.445_446delinsTC | |
| 12 | g.102852974del | CA607154749 | PAH | c.707-21del (n.707-21del) c.692-21del (n.692-21del) n.445del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852972A= | CA2059446808 | PAH | c.707-22T= (n.707-22T=) c.692-22T= (n.692-22T=) n.444T= | |
| 12 | g.102852972A>G | CA682805485 | PAH | c.707-22T>C (n.707-22T>C) c.692-22T>C (n.692-22T>C) n.444T>C | dbSNP |
| 12 | g.102852973A>G | CA2575266886 | PAH | c.707-23T>C (n.707-23T>C) c.692-23T>C (n.692-23T>C) n.443T>C | |
| 12 | g.102852974A= | CA2059446814 | PAH | c.707-24T= (n.707-24T=) c.692-24T= (n.692-24T=) n.442T= | |
| 12 | g.102852974A>C | CA607154751 | PAH | c.707-24T>G (n.707-24T>G) c.692-24T>G (n.692-24T>G) n.442T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852974A>G | CA607154750 | PAH | c.707-24T>C (n.707-24T>C) c.692-24T>C (n.692-24T>C) n.442T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852975C= | CA2059446819 | PAH | c.707-25G= (n.707-25G=) c.692-25G= (n.692-25G=) n.441G= | |
| 12 | g.102852975C>T | CA6748853 | PAH | c.707-25G>A (n.707-25G>A) c.692-25G>A (n.692-25G>A) n.441G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852976T>C | CA951235449 | PAH | c.707-26A>G (n.707-26A>G) c.692-26A>G (n.692-26A>G) n.440A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852976T>G | CA682805508 | PAH | c.707-26A>C (n.707-26A>C) c.692-26A>C (n.692-26A>C) n.440A>C | dbSNP gnomAD v4 |
| 12 | g.102852976T= | CA2059446823 | PAH | c.707-26A= (n.707-26A=) c.692-26A= (n.692-26A=) n.440A= | |
| 12 | g.102852978A= | CA2059446825 | PAH | c.707-28T= (n.707-28T=) c.692-28T= (n.692-28T=) n.438T= | |
| 12 | g.102852978A>C | CA6748854 | PAH | c.707-28T>G (n.707-28T>G) c.692-28T>G (n.692-28T>G) n.438T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852980A>T | CA2575266887 | PAH | c.707-30T>A (n.707-30T>A) c.692-30T>A (n.692-30T>A) n.436T>A | |
| 12 | g.102852982C= | CA2059446828 | PAH | c.707-32G= (n.707-32G=) c.692-32G= (n.692-32G=) n.434G= | |
| 12 | g.102852982C>G | CA2059446830 | PAH | c.707-32G>C (n.707-32G>C) c.692-32G>C (n.692-32G>C) n.434G>C | dbSNP |