| 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.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 |