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.102852785G>A | CA607154507 | PAH | c.842+30C>T (n.842+30C>T) c.827+30C>T (n.827+30C>T) n.601+30C>T c.3+30C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852785G= | CA2059445907 | PAH | c.842+30C= (n.842+30C=) c.827+30C= (n.827+30C=) n.601+30C= c.3+30C= | |
| 12 | g.102852785G>T | CA2059445910 | PAH | c.842+30C>A (n.842+30C>A) c.827+30C>A (n.827+30C>A) n.601+30C>A c.3+30C>A | dbSNP |
| 12 | g.102852787C>A | CA6748832 | PAH | c.842+28G>T (n.842+28G>T) c.827+28G>T (n.827+28G>T) n.601+28G>T c.3+28G>T | dbSNP ExAC gnomAD v2 |
| 12 | g.102852787C= | CA2059445911 | PAH | c.842+28G= (n.842+28G=) c.827+28G= (n.827+28G=) n.601+28G= c.3+28G= | |
| 12 | g.102852787C>G | CA2620514405 | PAH | c.842+28G>C (n.842+28G>C) c.827+28G>C (n.827+28G>C) n.601+28G>C c.3+28G>C | gnomAD v4 |
| 12 | g.102852789A= | CA2059445914 | PAH | c.842+26T= (n.842+26T=) c.827+26T= (n.827+26T=) n.601+26T= c.3+26T= | |
| 12 | g.102852789A>G | CA607154509 | PAH | c.842+26T>C (n.842+26T>C) c.827+26T>C (n.827+26T>C) n.601+26T>C c.3+26T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852790C>A | CA16020873 | PAH | c.842+25G>T (n.842+25G>T) c.827+25G>T (n.827+25G>T) n.601+25G>T c.3+25G>T | |
| 12 | g.102852791T>C | CA6748833 | PAH | c.842+24A>G (n.842+24A>G) c.827+24A>G (n.827+24A>G) n.601+24A>G c.3+24A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852791T= | CA2059445920 | PAH | c.842+24A= (n.842+24A=) c.827+24A= (n.827+24A=) n.601+24A= c.3+24A= | |
| 12 | g.102852792G>A | CA6748834 | PAH | c.842+23C>T (n.842+23C>T) c.827+23C>T (n.827+23C>T) n.601+23C>T c.3+23C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852792G= | CA2059445924 | PAH | c.842+23C= (n.842+23C=) c.827+23C= (n.827+23C=) n.601+23C= c.3+23C= | |
| 12 | g.102852793G>A | CA2620514422 | PAH | c.842+22C>T (n.842+22C>T) c.827+22C>T (n.827+22C>T) n.601+22C>T c.3+22C>T | gnomAD v4 |
| 12 | g.102852795A= | CA2059445928 | PAH | c.842+20T= (n.842+20T=) c.827+20T= (n.827+20T=) n.601+20T= c.3+20T= | |
| 12 | g.102852795A>C | CA951235173 | PAH | c.842+20T>G (n.842+20T>G) c.827+20T>G (n.827+20T>G) n.601+20T>G c.3+20T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852795A>G | CA951235185 | PAH | c.842+20T>C (n.842+20T>C) c.827+20T>C (n.827+20T>C) n.601+20T>C c.3+20T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852796G>A | CA2620514426 | PAH | c.842+19C>T (n.842+19C>T) c.827+19C>T (n.827+19C>T) n.601+19C>T c.3+19C>T | gnomAD v4 |
| 12 | g.102852796G= | CA2059445932 | PAH | c.842+19C= (n.842+19C=) c.827+19C= (n.827+19C=) n.601+19C= c.3+19C= | |
| 12 | g.102852796G>T | CA242471510 | PAH | c.842+19C>A (n.842+19C>A) c.827+19C>A (n.827+19C>A) n.601+19C>A c.3+19C>A | dbSNP |
| 12 | g.102852797C= | CA2059445934 | PAH | c.842+18G= (n.842+18G=) c.827+18G= (n.827+18G=) n.601+18G= c.3+18G= | |
| 12 | g.102852797C>G | CA2620514429 | PAH | c.842+18G>C (n.842+18G>C) c.827+18G>C (n.827+18G>C) n.601+18G>C c.3+18G>C | gnomAD v4 |
| 12 | g.102852797C>T | CA607154511 | PAH | c.842+18G>A (n.842+18G>A) c.827+18G>A (n.827+18G>A) n.601+18G>A c.3+18G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852798T>A | CA2620514432 | PAH | c.842+17A>T (n.842+17A>T) c.827+17A>T (n.827+17A>T) n.601+17A>T c.3+17A>T | gnomAD v4 |
| 12 | g.102852800G>A | CA2059445937 | PAH | c.842+15C>T (n.842+15C>T) c.827+15C>T (n.827+15C>T) n.601+15C>T c.3+15C>T | dbSNP gnomAD v4 |
| 12 | g.102852800G= | CA2059445938 | PAH | c.842+15C= (n.842+15C=) c.827+15C= (n.827+15C=) n.601+15C= c.3+15C= | |
| 12 | g.102852800G>T | CA2519279943 | PAH | c.842+15C>A (n.842+15C>A) c.827+15C>A (n.827+15C>A) n.601+15C>A c.3+15C>A | |
| 12 | g.102852802G>A | CA2575266883 | PAH | c.842+13C>T (n.842+13C>T) c.827+13C>T (n.827+13C>T) n.601+13C>T c.3+13C>T | |
| 12 | g.102852804A>G | CA2739277292 | PAH | c.842+11T>C (n.842+11T>C) c.827+11T>C (n.827+11T>C) n.601+11T>C c.3+11T>C | ClinVar |
| 12 | g.102852805C>G | CA2575266884 | PAH | c.842+10G>C (n.842+10G>C) c.827+10G>C (n.827+10G>C) n.601+10G>C c.3+10G>C | gnomAD v4 |
| 12 | g.102852806A= | CA2059445940 | PAH | c.842+9T= (n.842+9T=) c.827+9T= (n.827+9T=) n.601+9T= c.3+9T= | |
| 12 | g.102852806A>G | CA242471514 | PAH | c.842+9T>C (n.842+9T>C) c.827+9T>C (n.827+9T>C) n.601+9T>C c.3+9T>C | dbSNP gnomAD v4 |
| 12 | g.102852807G>A | CA6748835 | PAH | c.842+8C>T (n.842+8C>T) c.827+8C>T (n.827+8C>T) n.601+8C>T c.3+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852807G= | CA2059445945 | PAH | c.842+8C= (n.842+8C=) c.827+8C= (n.827+8C=) n.601+8C= c.3+8C= | |
| 12 | g.102852808_102852815dup | CA2620514447 | PAH | c.842+1_842+8dup c.827+1_827+8dup n.601+1_601+8dup c.3+1_3+8dup | gnomAD v4 |
| 12 | g.102852808T>A | CA2059445950 | PAH | c.842+7A>T (n.842+7A>T) c.827+7A>T (n.827+7A>T) n.601+7A>T c.3+7A>T | dbSNP |
| 12 | g.102852808T>C | CA951235190 | PAH | c.842+7A>G (n.842+7A>G) c.827+7A>G (n.827+7A>G) n.601+7A>G c.3+7A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852808T= | CA2059445948 | PAH | c.842+7A= (n.842+7A=) c.827+7A= (n.827+7A=) n.601+7A= c.3+7A= | |
| 12 | g.102852809A= | CA2059445956 | PAH | c.842+6T= (n.842+6T=) c.827+6T= (n.827+6T=) n.601+6T= c.3+6T= | |
| 12 | g.102852809A>T | CA16020872 | PAH | c.842+6T>A (n.842+6T>A) c.827+6T>A (n.827+6T>A) n.601+6T>A c.3+6T>A | ClinVar dbSNP |
| 12 | g.102852810C= | CA2059445970 | PAH | c.842+5G= (n.842+5G=) c.827+5G= (n.827+5G=) n.601+5G= c.3+5G= | |
| 12 | g.102852810C>T | CA229815 | PAH | c.842+5G>A (n.842+5G>A) c.827+5G>A (n.827+5G>A) n.601+5G>A c.3+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852811T>A | CA16020871 | PAH | c.842+4A>T (n.842+4A>T) c.827+4A>T (n.827+4A>T) n.601+4A>T c.3+4A>T | ClinVar dbSNP |
| 12 | g.102852811T>C | CA16020870 | PAH | c.842+4A>G (n.842+4A>G) c.827+4A>G (n.827+4A>G) n.601+4A>G c.3+4A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852811T= | CA2059445981 | PAH | c.842+4A= (n.842+4A=) c.827+4A= (n.827+4A=) n.601+4A= c.3+4A= | |
| 12 | g.102852811_102852819delinsTCACGGTTC | CA2059445979 | PAH | c.838_842+4delinsGAACCGTGA c.823_827+4delinsGAACCGTGA n.597_601+4delinsGAACCGTGA | |
| 12 | g.102852812C= | CA2059445993 | PAH | c.842+3G= (n.842+3G=) c.827+3G= (n.827+3G=) n.601+3G= c.3+3G= | |
| 12 | g.102852812C>G | CA229814 | PAH | c.842+3G>C (n.842+3G>C) c.827+3G>C (n.827+3G>C) n.601+3G>C c.3+3G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852812_102852819del | CA229807 | PAH | c.838_842+3del c.823_827+3del n.597_601+3del | ClinVar dbSNP |
| 12 | g.102852813A= | CA2059446006 | PAH | c.842+2T= (n.842+2T=) c.827+2T= (n.827+2T=) n.601+2T= c.3+2T= | |
| 12 | g.102852813A>C | CA386294524 | PAH | c.842+2T>G (n.842+2T>G) c.827+2T>G (n.827+2T>G) n.601+2T>G c.3+2T>G | |
| 12 | g.102852813A>G | CA386294525 | PAH | c.842+2T>C (n.842+2T>C) c.827+2T>C (n.827+2T>C) n.601+2T>C c.3+2T>C | |
| 12 | g.102852813A>T | CA229813 | PAH | c.842+2T>A (n.842+2T>A) c.827+2T>A (n.827+2T>A) n.601+2T>A c.3+2T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852814C>A | CA229812 | PAH | c.842+1G>T (n.842+1G>T) c.827+1G>T (n.827+1G>T) n.601+1G>T c.3+1G>T | ClinVar dbSNP |
| 12 | g.102852814C= | CA2059446010 | PAH | c.842+1G= (n.842+1G=) c.827+1G= (n.827+1G=) n.601+1G= c.3+1G= | |
| 12 | g.102852814C>G | CA386294526 | PAH | c.842+1G>C (n.842+1G>C) c.827+1G>C (n.827+1G>C) n.601+1G>C c.3+1G>C | |
| 12 | g.102852814C>T | CA229811 | PAH | c.842+1G>A (n.842+1G>A) c.827+1G>A (n.827+1G>A) n.601+1G>A c.3+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852814_102852816del | CA16020869 | PAH | c.841_842+1del c.826_827+1del n.600_601+1del c.2_3+1del | |
| 12 | g.102852815G>A | CA220589 | PAH | c.842C>T (p.Pro281Leu) c.827C>T (p.Pro276Leu) n.601C>T c.3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852815G>C | CA16020868 | PAH | c.842C>G (p.Pro281Arg) c.827C>G (p.Pro276Arg) n.601C>G c.3C>G | ClinVar dbSNP |
| 12 | g.102852815G= | CA2059446018 | PAH | c.842C= (p.Pro281=) c.827C= (p.Pro276=) n.601C= c.3C= | |
| 12 | g.102852815G>T | CA386294527 | PAH | c.842C>A (p.Pro281His) c.827C>A (p.Pro276His) n.601C>A c.3C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852816G>A | CA220587 | PAH | c.841C>T (p.Pro281Ser) c.826C>T (p.Pro276Ser) n.600C>T c.2C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852816G>C | CA267678 | PAH | c.841C>G (p.Pro281Ala) c.826C>G (p.Pro276Ala) n.600C>G c.2C>G | ClinVar dbSNP |
| 12 | g.102852816G= | CA2059446029 | PAH | c.841C= (p.Pro281=) c.826C= (p.Pro276=) n.600C= c.2C= | |
| 12 | g.102852816G>T | CA386294528 | PAH | c.841C>A (p.Pro281Thr) c.826C>A (p.Pro276Thr) n.600C>A c.2C>A | dbSNP gnomAD v4 |
| 12 | g.102852817T>A | CA386294529 | PAH | c.840A>T (p.Glu280Asp) c.825A>T (p.Glu275Asp) n.599A>T c.1A>T | |
| 12 | g.102852817T>C | CA481331326 | PAH | c.840A>G (p.Glu280=) c.825A>G (p.Glu275=) n.599A>G c.1A>G | |
| 12 | g.102852817T>G | CA386294530 | PAH | c.840A>C (p.Glu280Asp) c.825A>C (p.Glu275Asp) n.599A>C c.1A>C | |
| 12 | g.102852817T= | CA2059446043 | PAH | c.840A= (p.Glu280=) c.825A= (p.Glu275=) n.599A= c.1A= | |
| 12 | g.102852817_102852818insA | CA229810 | PAH | c.839_840insT (p.Glu280AspfsTer3) c.824_825insT (p.Glu275AspfsTer3) n.598_599insT | ClinVar dbSNP |
| 12 | g.102852818T>A | CA386294531 | PAH | c.839A>T (p.Glu280Val) c.824A>T (p.Glu275Val) n.598A>T | |
| 12 | g.102852818T>C | CA229808 | PAH | c.839A>G (p.Glu280Gly) c.824A>G (p.Glu275Gly) n.598A>G | ClinVar dbSNP |
| 12 | g.102852818T>G | CA16020696 | PAH | c.839A>C (p.Glu280Ala) c.824A>C (p.Glu275Ala) n.598A>C | ClinVar |
| 12 | g.102852818T= | CA2059446054 | PAH | c.839A= (p.Glu280=) c.824A= (p.Glu275=) n.598A= | |
| 12 | g.102852819C>A | CA386294532 | PAH | c.838G>T (p.Glu280Ter) c.823G>T (p.Glu275Ter) n.597G>T | |
| 12 | g.102852819C= | CA2059446068 | PAH | c.838G= (p.Glu280=) c.823G= (p.Glu275=) n.597G= | |
| 12 | g.102852819C>G | CA229805 | PAH | c.838G>C (p.Glu280Gln) c.823G>C (p.Glu275Gln) n.597G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852819C>T | CA251525 | PAH | c.838G>A (p.Glu280Lys) c.823G>A (p.Glu275Lys) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852819_102852820delinsCG | CA2059446077 | PAH | c.837_838delinsCG (p.Pro279=) c.822_823delinsCG (p.Pro274=) n.596_597delinsCG | |
| 12 | g.102852820G>A | CA6748836 | PAH | c.837C>T (p.Pro279=) c.822C>T (p.Pro274=) n.596C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852820G>C | CA481331327 | PAH | c.837C>G (p.Pro279=) c.822C>G (p.Pro274=) n.596C>G | gnomAD v4 |
| 12 | g.102852820G= | CA2059446090 | PAH | c.837C= (p.Pro279=) c.822C= (p.Pro274=) n.596C= | |
| 12 | g.102852820G>T | CA481331328 | PAH | c.837C>A (p.Pro279=) c.822C>A (p.Pro274=) n.596C>A | |
| 12 | g.102852820_102852821delinsAA | CA645584082 | PAH | c.836_837delinsTT (p.Pro279Leu) c.821_822delinsTT (p.Pro274Leu) n.595_596delinsTT | COSMIC |
| 12 | g.102852824dup | CA2580085691 | PAH | c.837dup (p.Glu280ArgfsTer3) c.822dup (p.Glu275ArgfsTer3) n.596dup | ClinVar |
| 12 | g.102852824del | CA267677 | PAH | c.837del (p.Glu280AsnfsTer?) c.822del (p.Glu275AsnfsTer?) n.596del | ClinVar dbSNP |
| 12 | g.102852821G>A | CA275939 | PAH | c.836C>T (p.Pro279Leu) c.821C>T (p.Pro274Leu) n.595C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852821G>C | CA386294534 | PAH | c.836C>G (p.Pro279Arg) c.821C>G (p.Pro274Arg) n.595C>G | |
| 12 | g.102852821G= | CA2059446099 | PAH | c.836C= (p.Pro279=) c.821C= (p.Pro274=) n.595C= | |
| 12 | g.102852821G>T | CA386294533 | PAH | c.836C>A (p.Pro279His) c.821C>A (p.Pro274His) n.595C>A | |
| 12 | g.102852821_102852822delinsCA | CA645372267 | PAH | c.835_836delinsTG (p.Pro279Cys) c.820_821delinsTG (p.Pro274Cys) n.594_595delinsTG | ClinVar dbSNP |
| 12 | g.102852822G>A | CA386294535 | PAH | c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) n.594C>T | |
| 12 | g.102852822G>C | CA386294536 | PAH | c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) n.594C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852822G= | CA2059446103 | PAH | c.835C= (p.Pro279=) c.820C= (p.Pro274=) n.594C= | |
| 12 | g.102852822G>T | CA386294537 | PAH | c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) n.594C>A | ClinVar gnomAD v4 |
| 12 | g.102852823G>A | CA481331331 | PAH | c.834C>T (p.Thr278=) c.819C>T (p.Thr273=) n.593C>T | gnomAD v4 |
| 12 | g.102852823G>C | CA481331329 | PAH | c.834C>G (p.Thr278=) c.819C>G (p.Thr273=) n.593C>G | |
| 12 | g.102852823G>T | CA481331330 | PAH | c.834C>A (p.Thr278=) c.819C>A (p.Thr273=) n.593C>A | |
| 12 | g.102852824G>A | CA229803 | PAH | c.833C>T (p.Thr278Ile) c.818C>T (p.Thr273Ile) n.592C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824G>C | CA16020867 | PAH | c.833C>G (p.Thr278Ser) c.818C>G (p.Thr273Ser) n.592C>G | ClinVar dbSNP |
| 12 | g.102852824G= | CA2059446110 | PAH | c.833C= (p.Thr278=) c.818C= (p.Thr273=) n.592C= | |
| 12 | g.102852824G>T | CA229802 | PAH | c.833C>A (p.Thr278Asn) c.818C>A (p.Thr273Asn) n.592C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824_102852835delinsGTATACATGGGC | CA2059446119 | PAH | c.822_833delinsGCCCATGTATAC (p.Lys274=) c.807_818delinsGCCCATGTATAC (p.Lys269=) n.581_592delinsGCCCATGTATAC | |
| 12 | g.102852825T>A | CA386294538 | PAH | c.832A>T (p.Thr278Ser) c.817A>T (p.Thr273Ser) n.591A>T | |
| 12 | g.102852825T>C | CA229801 | PAH | c.832A>G (p.Thr278Ala) c.817A>G (p.Thr273Ala) n.591A>G | ClinVar dbSNP |
| 12 | g.102852825T>G | CA386294539 | PAH | c.832A>C (p.Thr278Pro) c.817A>C (p.Thr273Pro) n.591A>C | dbSNP |
| 12 | g.102852825T= | CA2059446129 | PAH | c.832A= (p.Thr278=) c.817A= (p.Thr273=) n.591A= | |
| 12 | g.102852826_102852836del | CA229788 | PAH | c.822_832del (p.Lys274AsnfsTer5) c.807_817del (p.Lys269AsnfsTer5) n.581_591del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852826A= | CA2059446140 | PAH | c.831T= (p.Tyr277=) c.816T= (p.Tyr272=) n.590T= | |
| 12 | g.102852826A>C | CA386294540 | PAH | c.831T>G (p.Tyr277Ter) c.816T>G (p.Tyr272Ter) n.590T>G | |
| 12 | g.102852826A>G | CA242471595 | PAH | c.831T>C (p.Tyr277=) c.816T>C (p.Tyr272=) n.590T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852826A>T | CA386294541 | PAH | c.831T>A (p.Tyr277Ter) c.816T>A (p.Tyr272Ter) n.590T>A | |
| 12 | g.102852826_102852827insG | CA2499221400 | PAH | c.830_831insC (p.Thr278TyrfsTer5) c.815_816insC (p.Thr273TyrfsTer5) n.589_590insC | ClinVar dbSNP |
| 12 | g.102852827T>A | CA386294543 | PAH | c.830A>T (p.Tyr277Phe) c.815A>T (p.Tyr272Phe) n.589A>T | |
| 12 | g.102852827T>C | CA229800 | PAH | c.830A>G (p.Tyr277Cys) c.815A>G (p.Tyr272Cys) n.589A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852827T>G | CA386294542 | PAH | c.830A>C (p.Tyr277Ser) c.815A>C (p.Tyr272Ser) n.589A>C | |
| 12 | g.102852827T= | CA2059446146 | PAH | c.830A= (p.Tyr277=) c.815A= (p.Tyr272=) n.589A= | |
| 12 | g.102852828A= | CA2059446150 | PAH | c.829T= (p.Tyr277=) c.814T= (p.Tyr272=) n.588T= | |
| 12 | g.102852828A>C | CA251534 | PAH | c.829T>G (p.Tyr277Asp) c.814T>G (p.Tyr272Asp) n.588T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852828A>G | CA386294544 | PAH | c.829T>C (p.Tyr277His) c.814T>C (p.Tyr272His) n.588T>C | gnomAD v4 |
| 12 | g.102852828A>T | CA386294545 | PAH | c.829T>A (p.Tyr277Asn) c.814T>A (p.Tyr272Asn) n.588T>A | |
| 12 | g.102852829C>A | CA229799 | PAH | c.828G>T (p.Met276Ile) c.813G>T (p.Met271Ile) n.587G>T | ClinVar dbSNP |
| 12 | g.102852829C= | CA2059446164 | PAH | c.828G= (p.Met276=) c.813G= (p.Met271=) n.587G= | |
| 12 | g.102852829C>G | CA386294546 | PAH | c.828G>C (p.Met276Ile) c.813G>C (p.Met271Ile) n.587G>C | |
| 12 | g.102852829C>T | CA386294547 | PAH | c.828G>A (p.Met276Ile) c.813G>A (p.Met271Ile) n.587G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852830A= | CA2059446174 | PAH | c.827T= (p.Met276=) c.812T= (p.Met271=) n.586T= | |
| 12 | g.102852830A>C | CA229797 | PAH | c.827T>G (p.Met276Arg) c.812T>G (p.Met271Arg) n.586T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852830A>G | CA6748837 | PAH | c.827T>C (p.Met276Thr) c.812T>C (p.Met271Thr) n.586T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852830A>T | CA229795 | PAH | c.827T>A (p.Met276Lys) c.812T>A (p.Met271Lys) n.586T>A | ClinVar dbSNP |
| 12 | g.102852831T>A | CA6748838 | PAH | c.826A>T (p.Met276Leu) c.811A>T (p.Met271Leu) n.585A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852831T>C | CA229794 | PAH | c.826A>G (p.Met276Val) c.811A>G (p.Met271Val) n.585A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852831T>G | CA386294548 | PAH | c.826A>C (p.Met276Leu) c.811A>C (p.Met271Leu) n.585A>C | |
| 12 | g.102852831T= | CA2059446187 | PAH | c.826A= (p.Met276=) c.811A= (p.Met271=) n.585A= | |
| 12 | g.102852832G>A | CA481331332 | PAH | c.825C>T (p.Pro275=) c.810C>T (p.Pro270=) n.584C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852832G>C | CA481331333 | PAH | c.825C>G (p.Pro275=) c.810C>G (p.Pro270=) n.584C>G | |
| 12 | g.102852832G= | CA2059446191 | PAH | c.825C= (p.Pro275=) c.810C= (p.Pro270=) n.584C= | |
| 12 | g.102852832G>T | CA481331334 | PAH | c.825C>A (p.Pro275=) c.810C>A (p.Pro270=) n.584C>A | |
| 12 | g.102852833_102852834dup | CA2620514696 | PAH | c.824_825dup (p.Met276ProfsTer?) c.809_810dup (p.Met271ProfsTer?) n.583_584dup | gnomAD v4 |
| 12 | g.102852833G>A | CA229793 | PAH | c.824C>T (p.Pro275Leu) c.809C>T (p.Pro270Leu) n.583C>T | ClinVar dbSNP |
| 12 | g.102852833G>C | CA229791 | PAH | c.824C>G (p.Pro275Arg) c.809C>G (p.Pro270Arg) n.583C>G | ClinVar dbSNP |
| 12 | g.102852833G= | CA2059446195 | PAH | c.824C= (p.Pro275=) c.809C= (p.Pro270=) n.583C= | |
| 12 | g.102852833G>T | CA386294549 | PAH | c.824C>A (p.Pro275His) c.809C>A (p.Pro270His) n.583C>A | |
| 12 | g.102852834G>A | CA229789 | PAH | c.823C>T (p.Pro275Ser) c.808C>T (p.Pro270Ser) n.582C>T | ClinVar dbSNP |
| 12 | g.102852834G>C | CA10602334 | PAH | c.823C>G (p.Pro275Ala) c.808C>G (p.Pro270Ala) n.582C>G | |
| 12 | g.102852834G= | CA2059446201 | PAH | c.823C= (p.Pro275=) c.808C= (p.Pro270=) n.582C= | |
| 12 | g.102852834G>T | CA386294550 | PAH | c.823C>A (p.Pro275Thr) c.808C>A (p.Pro270Thr) n.582C>A | |
| 12 | g.102852835C>A | CA386294551 | PAH | c.822G>T (p.Lys274Asn) c.807G>T (p.Lys269Asn) n.581G>T | |
| 12 | g.102852835C= | CA2059446205 | PAH | c.822G= (p.Lys274=) c.807G= (p.Lys269=) n.581G= | |
| 12 | g.102852835C>G | CA386294552 | PAH | c.822G>C (p.Lys274Asn) c.807G>C (p.Lys269Asn) n.581G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852835C>T | CA481331335 | PAH | c.822G>A (p.Lys274=) c.807G>A (p.Lys269=) n.581G>A | |
| 12 | g.102852836T>A | CA386294553 | PAH | c.821A>T (p.Lys274Met) c.806A>T (p.Lys269Met) n.580A>T | COSMIC |
| 12 | g.102852836T>C | CA386294555 | PAH | c.821A>G (p.Lys274Arg) c.806A>G (p.Lys269Arg) n.580A>G | ClinVar dbSNP |
| 12 | g.102852836T>G | CA386294554 | PAH | c.821A>C (p.Lys274Thr) c.806A>C (p.Lys269Thr) n.580A>C | gnomAD v4 |
| 12 | g.102852836T= | CA2059446213 | PAH | c.821A= (p.Lys274=) c.806A= (p.Lys269=) n.580A= | |
| 12 | g.102852837dup | CA645584083 | PAH | c.821dup (p.Pro275AlafsTer8) c.806dup (p.Pro270AlafsTer8) n.580dup | COSMIC |
| 12 | g.102852837T>A | CA386294556 | PAH | c.820A>T (p.Lys274Ter) c.805A>T (p.Lys269Ter) n.579A>T | |
| 12 | g.102852837T>C | CA229786 | PAH | c.820A>G (p.Lys274Glu) c.805A>G (p.Lys269Glu) n.579A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852837T>G | CA386294557 | PAH | c.820A>C (p.Lys274Gln) c.805A>C (p.Lys269Gln) n.579A>C | |
| 12 | g.102852837T= | CA2059446216 | PAH | c.820A= (p.Lys274=) c.805A= (p.Lys269=) n.579A= | |
| 12 | g.102852839_102852850del | CA2697551513 | PAH | c.809_820del (p.Arg270_Ser273del) c.794_805del (p.Arg265_Ser268del) n.568_579del | ClinVar |
| 12 | g.102852838G>A | CA481331338 | PAH | c.819C>T (p.Ser273=) c.804C>T (p.Ser268=) n.578C>T | gnomAD v4 |
| 12 | g.102852838G>C | CA481331337 | PAH | c.819C>G (p.Ser273=) c.804C>G (p.Ser268=) n.578C>G | |
| 12 | g.102852838G>T | CA481331336 | PAH | c.819C>A (p.Ser273=) c.804C>A (p.Ser268=) n.578C>A | |
| 12 | g.102852839G>A | CA229785 | PAH | c.818C>T (p.Ser273Phe) c.803C>T (p.Ser268Phe) n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852839G>C | CA386294558 | PAH | c.818C>G (p.Ser273Cys) c.803C>G (p.Ser268Cys) n.577C>G | |
| 12 | g.102852839G= | CA2059446220 | PAH | c.818C= (p.Ser273=) c.803C= (p.Ser268=) n.577C= | |
| 12 | g.102852839G>T | CA386294559 | PAH | c.818C>A (p.Ser273Tyr) c.803C>A (p.Ser268Tyr) n.577C>A | |
| 12 | g.102852840A= | CA2059446226 | PAH | c.817T= (p.Ser273=) c.802T= (p.Ser268=) n.576T= | |
| 12 | g.102852840A>C | CA386294560 | PAH | c.817T>G (p.Ser273Ala) c.802T>G (p.Ser268Ala) n.576T>G | |
| 12 | g.102852840A>G | CA16020866 | PAH | c.817T>C (p.Ser273Pro) c.802T>C (p.Ser268Pro) n.576T>C | ClinVar dbSNP |
| 12 | g.102852840A>T | CA386294561 | PAH | c.817T>A (p.Ser273Thr) c.802T>A (p.Ser268Thr) n.576T>A | gnomAD v4 |
| 12 | g.102852841T>A | CA481331339 | PAH | c.816A>T (p.Gly272=) c.801A>T (p.Gly267=) n.575A>T | gnomAD v4 |
| 12 | g.102852841T>C | CA481331340 | PAH | c.816A>G (p.Gly272=) c.801A>G (p.Gly267=) n.575A>G | ClinVar gnomAD v4 |
| 12 | g.102852841T>G | CA481331341 | PAH | c.816A>C (p.Gly272=) c.801A>C (p.Gly267=) n.575A>C | |
| 12 | g.102852842C>A | CA386294562 | PAH | c.815G>T (p.Gly272Val) c.800G>T (p.Gly267Val) n.574G>T | |
| 12 | g.102852842C>G | CA386294563 | PAH | c.815G>C (p.Gly272Ala) c.800G>C (p.Gly267Ala) n.574G>C | |
| 12 | g.102852842C>T | CA386294564 | PAH | c.815G>A (p.Gly272Glu) c.800G>A (p.Gly267Glu) n.574G>A | COSMIC |
| 12 | g.102852842_102852847delinsCCATGT | CA2059446231 | PAH | c.810_815delinsACATGG (p.Arg270=) c.795_800delinsACATGG (p.Arg265=) n.569_574delinsACATGG | |
| 12 | g.102852843C>A | CA251532 | PAH | c.814G>T (p.Gly272Ter) c.799G>T (p.Gly267Ter) n.573G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852843C= | CA2059446239 | PAH | c.814G= (p.Gly272=) c.799G= (p.Gly267=) n.573G= | |
| 12 | g.102852843C>G | CA386294566 | PAH | c.814G>C (p.Gly272Arg) c.799G>C (p.Gly267Arg) n.573G>C | |
| 12 | g.102852843C>T | CA386294565 | PAH | c.814G>A (p.Gly272Arg) c.799G>A (p.Gly267Arg) n.573G>A | |
| 12 | g.102852844_102852848del | CA229783 | PAH | c.810_814del (p.His271IlefsTer10) c.795_799del (p.His266IlefsTer10) n.569_573del | ClinVar dbSNP |
| 12 | g.102852844A= | CA2059446251 | PAH | c.813T= (p.His271=) c.798T= (p.His266=) n.572T= | |
| 12 | g.102852844A>C | CA16020865 | PAH | c.813T>G (p.His271Gln) c.798T>G (p.His266Gln) n.572T>G | ClinVar dbSNP |
| 12 | g.102852844A>G | CA481331342 | PAH | c.813T>C (p.His271=) c.798T>C (p.His266=) n.572T>C | |
| 12 | g.102852844A>T | CA386294567 | PAH | c.813T>A (p.His271Gln) c.798T>A (p.His266Gln) n.572T>A | |
| 12 | g.102852845T>A | CA267675 | PAH | c.812A>T (p.His271Leu) c.797A>T (p.His266Leu) n.571A>T | ClinVar dbSNP |
| 12 | g.102852845T>C | CA286508 | PAH | c.812A>G (p.His271Arg) c.797A>G (p.His266Arg) n.571A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852845T>G | CA386294568 | PAH | c.812A>C (p.His271Pro) c.797A>C (p.His266Pro) n.571A>C | |
| 12 | g.102852845T= | CA2059446256 | PAH | c.812A= (p.His271=) c.797A= (p.His266=) n.571A= | |
| 12 | g.102852846G>A | CA229784 | PAH | c.811C>T (p.His271Tyr) c.796C>T (p.His266Tyr) n.570C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102852846G>C | CA386294569 | PAH | c.811C>G (p.His271Asp) c.796C>G (p.His266Asp) n.570C>G | |
| 12 | g.102852846G= | CA2059446267 | PAH | c.811C= (p.His271=) c.796C= (p.His266=) n.570C= | |
| 12 | g.102852846G>T | CA386294570 | PAH | c.811C>A (p.His271Asn) c.796C>A (p.His266Asn) n.570C>A | ClinVar |
| 12 | g.102852847T>A | CA229782 | PAH | c.810A>T (p.Arg270Ser) c.795A>T (p.Arg265Ser) n.569A>T | ClinVar dbSNP |
| 12 | g.102852847T>C | CA481331343 | PAH | c.810A>G (p.Arg270=) c.795A>G (p.Arg265=) n.569A>G | |
| 12 | g.102852847T>G | CA386294571 | PAH | c.810A>C (p.Arg270Ser) c.795A>C (p.Arg265Ser) n.569A>C | |
| 12 | g.102852847T= | CA2059446273 | PAH | c.810A= (p.Arg270=) c.795A= (p.Arg265=) n.569A= | |
| 12 | g.102852848C>A | CA16020864 | PAH | c.809G>T (p.Arg270Ile) c.794G>T (p.Arg265Ile) n.568G>T | |
| 12 | g.102852848C= | CA2059446280 | PAH | c.809G= (p.Arg270=) c.794G= (p.Arg265=) n.568G= | |
| 12 | g.102852848C>G | CA386295222 | PAH | c.809G>C (p.Arg270Thr) c.794G>C (p.Arg265Thr) n.568G>C | |
| 12 | g.102852848C>T | CA229781 | PAH | c.809G>A (p.Arg270Lys) c.794G>A (p.Arg265Lys) n.568G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852849T>A | CA386295229 | PAH | c.808A>T (p.Arg270Ter) c.793A>T (p.Arg265Ter) n.567A>T | |
| 12 | g.102852849T>C | CA229779 | PAH | c.808A>G (p.Arg270Gly) c.793A>G (p.Arg265Gly) n.567A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852849T>G | CA481331447 | PAH | c.808A>C (p.Arg270=) c.793A>C (p.Arg265=) n.567A>C | |
| 12 | g.102852849T= | CA2059446287 | PAH | c.808A= (p.Arg270=) c.793A= (p.Arg265=) n.567A= | |
| 12 | g.102852850G>A | CA481331448 | PAH | c.807C>T (p.Ile269=) c.792C>T (p.Ile264=) n.566C>T | |
| 12 | g.102852850G>C | CA386295235 | PAH | c.807C>G (p.Ile269Met) c.792C>G (p.Ile264Met) n.566C>G | gnomAD v4 |
| 12 | g.102852850G>T | CA481331449 | PAH | c.807C>A (p.Ile269=) c.792C>A (p.Ile264=) n.566C>A | ClinVar |
| 12 | g.102852850_102852851delinsGA | CA2059446293 | PAH | c.806_807delinsTC (p.Ile269=) c.791_792delinsTC (p.Ile264=) n.565_566delinsTC | |
| 12 | g.102852851del | CA229778 | PAH | c.806del (p.Ile269ThrfsTer?) c.791del (p.Ile264ThrfsTer?) n.565del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852851A= | CA2059446302 | PAH | c.806T= (p.Ile269=) c.791T= (p.Ile264=) n.565T= | |
| 12 | g.102852851A>C | CA386295241 | PAH | c.806T>G (p.Ile269Ser) c.791T>G (p.Ile264Ser) n.565T>G | |
| 12 | g.102852851A>G | CA386295244 | PAH | c.806T>C (p.Ile269Thr) c.791T>C (p.Ile264Thr) n.565T>C | |
| 12 | g.102852851A>T | CA229776 | PAH | c.806T>A (p.Ile269Asn) c.791T>A (p.Ile264Asn) n.565T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852852T>A | CA386295253 | PAH | c.805A>T (p.Ile269Phe) c.790A>T (p.Ile264Phe) n.564A>T | |
| 12 | g.102852852T>C | CA6748839 | PAH | c.805A>G (p.Ile269Val) c.790A>G (p.Ile264Val) n.564A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852852T>G | CA229775 | PAH | c.805A>C (p.Ile269Leu) c.790A>C (p.Ile264Leu) n.564A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852852T= | CA2059446311 | PAH | c.805A= (p.Ile269=) c.790A= (p.Ile264=) n.564A= | |
| 12 | g.102852853G>A | CA6748840 | PAH | c.804C>T (p.Tyr268=) c.789C>T (p.Tyr263=) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852853G>C | CA386295268 | PAH | c.804C>G (p.Tyr268Ter) c.789C>G (p.Tyr263Ter) n.563C>G | |
| 12 | g.102852853G= | CA2059446317 | PAH | c.804C= (p.Tyr268=) c.789C= (p.Tyr263=) n.563C= | |
| 12 | g.102852853G>T | CA386295265 | PAH | c.804C>A (p.Tyr268Ter) c.789C>A (p.Tyr263Ter) n.563C>A | ClinVar dbSNP |
| 12 | g.102852854T>A | CA386295273 | PAH | c.803A>T (p.Tyr268Phe) c.788A>T (p.Tyr263Phe) n.562A>T | |
| 12 | g.102852854T>C | CA16020863 | PAH | c.803A>G (p.Tyr268Cys) c.788A>G (p.Tyr263Cys) n.562A>G | ClinVar dbSNP |
| 12 | g.102852854T>G | CA386295276 | PAH | c.803A>C (p.Tyr268Ser) c.788A>C (p.Tyr263Ser) n.562A>C | |
| 12 | g.102852854T= | CA2059446325 | PAH | c.803A= (p.Tyr268=) c.788A= (p.Tyr263=) n.562A= | |
| 12 | g.102852855A= | CA2059446335 | PAH | c.802T= (p.Tyr268=) c.787T= (p.Tyr263=) n.561T= | |
| 12 | g.102852855A>C | CA386295281 | PAH | c.802T>G (p.Tyr268Asp) c.787T>G (p.Tyr263Asp) n.561T>G | |
| 12 | g.102852855A>G | CA229773 | PAH | c.802T>C (p.Tyr268His) c.787T>C (p.Tyr263His) n.561T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852855A>T | CA386295285 | PAH | c.802T>A (p.Tyr268Asn) c.787T>A (p.Tyr263Asn) n.561T>A | |
| 12 | g.102852855_102852856delinsAC | CA2059446333 | PAH | c.801_802delinsGT (p.Gln267=) c.786_787delinsGT (p.Gln262=) n.560_561delinsGT | |
| 12 | g.102852856del | CA1139660757 | PAH | c.801del (p.Gln267HisfsTer?) c.786del (p.Gln262HisfsTer?) n.560del | ClinVar dbSNP |
| 12 | g.102852856C>A | CA6748841 | PAH | c.801G>T (p.Gln267His) c.786G>T (p.Gln262His) n.560G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852856C= | CA2059446343 | PAH | c.801G= (p.Gln267=) c.786G= (p.Gln262=) n.560G= | |
| 12 | g.102852856C>G | CA229771 | PAH | c.801G>C (p.Gln267His) c.786G>C (p.Gln262His) n.560G>C | ClinVar dbSNP |
| 12 | g.102852856C>T | CA481331455 | PAH | c.801G>A (p.Gln267=) c.786G>A (p.Gln262=) n.560G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102852857T>A | CA354145 | PAH | c.800A>T (p.Gln267Leu) c.785A>T (p.Gln262Leu) n.559A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852857T>C | CA16020862 | PAH | c.800A>G (p.Gln267Arg) c.785A>G (p.Gln262Arg) n.559A>G | ClinVar dbSNP |
| 12 | g.102852857T>G | CA386295300 | PAH | c.800A>C (p.Gln267Pro) c.785A>C (p.Gln262Pro) n.559A>C | |
| 12 | g.102852857T= | CA2059446354 | PAH | c.800A= (p.Gln267=) c.785A= (p.Gln262=) n.559A= | |
| 12 | g.102852858G>A | CA16020861 | PAH | c.799C>T (p.Gln267Ter) c.784C>T (p.Gln262Ter) n.558C>T | ClinVar dbSNP COSMIC |
| 12 | g.102852858G>C | CA229769 | PAH | c.799C>G (p.Gln267Glu) c.784C>G (p.Gln262Glu) n.558C>G | ClinVar dbSNP |
| 12 | g.102852858G= | CA2059446362 | PAH | c.799C= (p.Gln267=) c.784C= (p.Gln262=) n.558C= | |
| 12 | g.102852858G>T | CA386295303 | PAH | c.799C>A (p.Gln267Lys) c.784C>A (p.Gln262Lys) n.558C>A | |
| 12 | g.102852859T>A | CA481331458 | PAH | c.798A>T (p.Thr266=) c.783A>T (p.Thr261=) n.557A>T | |
| 12 | g.102852859T>C | CA481331459 | PAH | c.798A>G (p.Thr266=) c.783A>G (p.Thr261=) n.557A>G | |
| 12 | g.102852859T>G | CA481331460 | PAH | c.798A>C (p.Thr266=) c.783A>C (p.Thr261=) n.557A>C | |
| 12 | g.102852860G>A | CA386295316 | PAH | c.797C>T (p.Thr266Ile) c.782C>T (p.Thr261Ile) n.556C>T | ClinVar |
| 12 | g.102852860G>C | CA386295311 | PAH | c.797C>G (p.Thr266Arg) c.782C>G (p.Thr261Arg) n.556C>G | |
| 12 | g.102852860G= | CA2059446371 | PAH | c.797C= (p.Thr266=) c.782C= (p.Thr261=) n.556C= | |
| 12 | g.102852860G>T | CA229767 | PAH | c.797C>A (p.Thr266Lys) c.782C>A (p.Thr261Lys) n.556C>A | ClinVar dbSNP |
| 12 | g.102852860_102852861delinsTC | CA16020860 | PAH | c.796_797delinsGA (p.Thr266Glu) c.781_782delinsGA (p.Thr261Glu) n.555_556delinsGA | |
| 12 | g.102852861T>A | CA386295320 | PAH | c.796A>T (p.Thr266Ser) c.781A>T (p.Thr261Ser) n.555A>T | |
| 12 | g.102852861T>C | CA229765 | PAH | c.796A>G (p.Thr266Ala) c.781A>G (p.Thr261Ala) n.555A>G | ClinVar dbSNP |
| 12 | g.102852861T>G | CA267673 | PAH | c.796A>C (p.Thr266Pro) c.781A>C (p.Thr261Pro) n.555A>C | ClinVar dbSNP |
| 12 | g.102852861T= | CA2059446380 | PAH | c.796A= (p.Thr266=) c.781A= (p.Thr261=) n.555A= | |
| 12 | g.102852862G>A | CA481331464 | PAH | c.795C>T (p.Cys265=) c.780C>T (p.Cys260=) n.554C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852862G>C | CA386295328 | PAH | c.795C>G (p.Cys265Trp) c.780C>G (p.Cys260Trp) n.554C>G | |
| 12 | g.102852862G= | CA2059446389 | PAH | c.795C= (p.Cys265=) c.780C= (p.Cys260=) n.554C= | |
| 12 | g.102852862G>T | CA16020859 | PAH | c.795C>A (p.Cys265Ter) c.780C>A (p.Cys260Ter) n.554C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852863C>A | CA386295335 | PAH | c.794G>T (p.Cys265Phe) c.779G>T (p.Cys260Phe) n.553G>T | COSMIC |
| 12 | g.102852863C= | CA2059446393 | PAH | c.794G= (p.Cys265=) c.779G= (p.Cys260=) n.553G= | |
| 12 | g.102852863C>G | CA386295338 | PAH | c.794G>C (p.Cys265Ser) c.779G>C (p.Cys260Ser) n.553G>C | |
| 12 | g.102852863C>T | CA229763 | PAH | c.794G>A (p.Cys265Tyr) c.779G>A (p.Cys260Tyr) n.553G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852864A= | CA2059446398 | PAH | c.793T= (p.Cys265=) c.778T= (p.Cys260=) n.552T= | |
| 12 | g.102852864A>C | CA229762 | PAH | c.793T>G (p.Cys265Gly) c.778T>G (p.Cys260Gly) n.552T>G | ClinVar dbSNP |
| 12 | g.102852864A>G | CA16020858 | PAH | c.793T>C (p.Cys265Arg) c.778T>C (p.Cys260Arg) n.552T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852864A>T | CA386295349 | PAH | c.793T>A (p.Cys265Ser) c.778T>A (p.Cys260Ser) n.552T>A | |
| 12 | g.102852865del | CA2695199166 | PAH | c.792del (p.Cys265AlafsTer?) c.777del (p.Cys260AlafsTer?) n.551del | ClinVar |
| 12 | g.102852865G>A | CA242471830 | PAH | c.792C>T (p.His264=) c.777C>T (p.His259=) n.551C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852865G>C | CA386295358 | PAH | c.792C>G (p.His264Gln) c.777C>G (p.His259Gln) n.551C>G | gnomAD v4 |
| 12 | g.102852865G= | CA2059446403 | PAH | c.792C= (p.His264=) c.777C= (p.His259=) n.551C= | |
| 12 | g.102852865G>T | CA386295354 | PAH | c.792C>A (p.His264Gln) c.777C>A (p.His259Gln) n.551C>A | gnomAD v4 |
| 12 | g.102852866T>A | CA229761 | PAH | c.791A>T (p.His264Leu) c.776A>T (p.His259Leu) n.550A>T | ClinVar dbSNP |
| 12 | g.102852866T>C | CA386295372 | PAH | c.791A>G (p.His264Arg) c.776A>G (p.His259Arg) n.550A>G | ClinVar dbSNP |
| 12 | g.102852866T>G | CA386295376 | PAH | c.791A>C (p.His264Pro) c.776A>C (p.His259Pro) n.550A>C | |
| 12 | g.102852866T= | CA2059446410 | PAH | c.791A= (p.His264=) c.776A= (p.His259=) n.550A= | |
| 12 | g.102852866_102852867delinsTG | CA2059446406 | PAH | c.790_791delinsCA (p.His264=) c.775_776delinsCA (p.His259=) n.549_550delinsCA | |
| 12 | g.102852867G>A | CA6748842 | PAH | c.790C>T (p.His264Tyr) c.775C>T (p.His259Tyr) n.549C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852867G>C | CA386295383 | PAH | c.790C>G (p.His264Asp) c.775C>G (p.His259Asp) n.549C>G | |
| 12 | g.102852867G= | CA2059446412 | PAH | c.790C= (p.His264=) c.775C= (p.His259=) n.549C= | |
| 12 | g.102852867G>T | CA386295386 | PAH | c.790C>A (p.His264Asn) c.775C>A (p.His259Asn) n.549C>A | |
| 12 | g.102852868del | CA16041559 | PAH | c.790del (p.His264ThrfsTer?) c.775del (p.His259ThrfsTer?) n.549del | ClinVar dbSNP |
| 12 | g.102852868G>A | CA481331472 | PAH | c.789C>T (p.Phe263=) c.774C>T (p.Phe258=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852868G>C | CA229760 | PAH | c.789C>G (p.Phe263Leu) c.774C>G (p.Phe258Leu) n.548C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852868G= | CA2059446416 | PAH | c.789C= (p.Phe263=) c.774C= (p.Phe258=) n.548C= | |
| 12 | g.102852868G>T | CA386295393 | PAH | c.789C>A (p.Phe263Leu) c.774C>A (p.Phe258Leu) n.548C>A | ClinVar dbSNP |
| 12 | g.102852869A= | CA2059446426 | PAH | c.788T= (p.Phe263=) c.773T= (p.Phe258=) n.547T= | |
| 12 | g.102852869A>C | CA386295396 | PAH | c.788T>G (p.Phe263Cys) c.773T>G (p.Phe258Cys) n.547T>G | |
| 12 | g.102852869A>G | CA16020857 | PAH | c.788T>C (p.Phe263Ser) c.773T>C (p.Phe258Ser) n.547T>C | ClinVar dbSNP |
| 12 | g.102852869A>T | CA386295401 | PAH | c.788T>A (p.Phe263Tyr) c.773T>A (p.Phe258Tyr) n.547T>A | |
| 12 | g.102852870A>C | CA386295411 | PAH | c.787T>G (p.Phe263Val) c.772T>G (p.Phe258Val) n.546T>G | |
| 12 | g.102852870A>G | CA386295406 | PAH | c.787T>C (p.Phe263Leu) c.772T>C (p.Phe258Leu) n.546T>C | |
| 12 | g.102852870A>T | CA386295404 | PAH | c.787T>A (p.Phe263Ile) c.772T>A (p.Phe258Ile) n.546T>A | |
| 12 | g.102852871G>A | CA242471869 | PAH | c.786C>T (p.Val262=) c.771C>T (p.Val257=) n.545C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852871G>C | CA481331475 | PAH | c.786C>G (p.Val262=) c.771C>G (p.Val257=) n.545C>G | |
| 12 | g.102852871G= | CA2059446431 | PAH | c.786C= (p.Val262=) c.771C= (p.Val257=) n.545C= | |
| 12 | g.102852871G>T | CA481331474 | PAH | c.786C>A (p.Val262=) c.771C>A (p.Val257=) n.545C>A | |
| 12 | g.102852872A= | CA2059446437 | PAH | c.785T= (p.Val262=) c.770T= (p.Val257=) n.544T= | |
| 12 | g.102852872A>C | CA267671 | PAH | c.785T>G (p.Val262Gly) c.770T>G (p.Val257Gly) n.544T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852872A>G | CA386295423 | PAH | c.785T>C (p.Val262Ala) c.770T>C (p.Val257Ala) n.544T>C | |
| 12 | g.102852872A>T | CA386295428 | PAH | c.785T>A (p.Val262Asp) c.770T>A (p.Val257Asp) n.544T>A | |
| 12 | g.102852873C>A | CA386295432 | PAH | c.784G>T (p.Val262Phe) c.769G>T (p.Val257Phe) n.543G>T | |
| 12 | g.102852873C>G | CA386295436 | PAH | c.784G>C (p.Val262Leu) c.769G>C (p.Val257Leu) n.543G>C | |
| 12 | g.102852873C>T | CA386295439 | PAH | c.784G>A (p.Val262Ile) c.769G>A (p.Val257Ile) n.543G>A | |
| 12 | g.102852874T>A | CA481331477 | PAH | c.783A>T (p.Arg261=) c.768A>T (p.Arg256=) n.542A>T | |
| 12 | g.102852874T>C | CA481331478 | PAH | c.783A>G (p.Arg261=) c.768A>G (p.Arg256=) n.542A>G | ClinVar dbSNP |
| 12 | g.102852874T>G | CA481331481 | PAH | c.783A>C (p.Arg261=) c.768A>C (p.Arg256=) n.542A>C | |
| 12 | g.102852875C>A | CA386295444 | PAH | c.782G>T (p.Arg261Leu) c.767G>T (p.Arg256Leu) n.541G>T | ClinVar dbSNP |
| 12 | g.102852875C= | CA2059446444 | PAH | c.782G= (p.Arg261=) c.767G= (p.Arg256=) n.541G= | |
| 12 | g.102852875C>G | CA229759 | PAH | c.782G>C (p.Arg261Pro) c.767G>C (p.Arg256Pro) n.541G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852875C>T | CA251528 | PAH | c.782G>A (p.Arg261Gln) c.767G>A (p.Arg256Gln) n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852875_102852876delinsGA | CA2695217155 | PAH | c.781_782delinsTC (p.Arg261Ser) c.766_767delinsTC (p.Arg256Ser) n.540_541delinsTC | |
| 12 | g.102852876G>A | CA229757 | PAH | c.781C>T (p.Arg261Ter) c.766C>T (p.Arg256Ter) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852876G>C | CA269921 | PAH | c.781C>G (p.Arg261Gly) c.766C>G (p.Arg256Gly) n.540C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852876G= | CA2059446456 | PAH | c.781C= (p.Arg261=) c.766C= (p.Arg256=) n.540C= | |
| 12 | g.102852876G>T | CA481331483 | PAH | c.781C>A (p.Arg261=) c.766C>A (p.Arg256=) n.540C>A | |
| 12 | g.102852877G>A | CA481331484 | PAH | c.780C>T (p.Phe260=) c.765C>T (p.Phe255=) n.539C>T | |
| 12 | g.102852877G>C | CA386295463 | PAH | c.780C>G (p.Phe260Leu) c.765C>G (p.Phe255Leu) n.539C>G | ClinVar |
| 12 | g.102852877G>T | CA386295468 | PAH | c.780C>A (p.Phe260Leu) c.765C>A (p.Phe255Leu) n.539C>A | |
| 12 | g.102852878A>C | CA386295474 | PAH | c.779T>G (p.Phe260Cys) c.764T>G (p.Phe255Cys) n.538T>G | |
| 12 | g.102852878A>G | CA386295480 | PAH | c.779T>C (p.Phe260Ser) c.764T>C (p.Phe255Ser) n.538T>C | |
| 12 | g.102852878A>T | CA386295477 | PAH | c.779T>A (p.Phe260Tyr) c.764T>A (p.Phe255Tyr) n.538T>A | |
| 12 | g.102852879A>C | CA386295487 | PAH | c.778T>G (p.Phe260Val) c.763T>G (p.Phe255Val) n.537T>G | |
| 12 | g.102852879A>G | CA386295490 | PAH | c.778T>C (p.Phe260Leu) c.763T>C (p.Phe255Leu) n.537T>C | |
| 12 | g.102852879A>T | CA16020856 | PAH | c.778T>A (p.Phe260Ile) c.763T>A (p.Phe255Ile) n.537T>A | |
| 12 | g.102852880G>A | CA481331490 | PAH | c.777C>T (p.Ala259=) c.762C>T (p.Ala254=) n.536C>T | gnomAD v4 COSMIC |
| 12 | g.102852880G>C | CA481331489 | PAH | c.777C>G (p.Ala259=) c.762C>G (p.Ala254=) n.536C>G | |
| 12 | g.102852880G>T | CA481331488 | PAH | c.777C>A (p.Ala259=) c.762C>A (p.Ala254=) n.536C>A | |
| 12 | g.102852881G>A | CA229756 | PAH | c.776C>T (p.Ala259Val) c.761C>T (p.Ala254Val) n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852881G>C | CA386295500 | PAH | c.776C>G (p.Ala259Gly) c.761C>G (p.Ala254Gly) n.535C>G | ClinVar |
| 12 | g.102852881G= | CA2059446459 | PAH | c.776C= (p.Ala259=) c.761C= (p.Ala254=) n.535C= | |
| 12 | g.102852881G>T | CA386295503 | PAH | c.776C>A (p.Ala259Asp) c.761C>A (p.Ala254Asp) n.535C>A | |
| 12 | g.102852882C>A | CA386295507 | PAH | c.775G>T (p.Ala259Ser) c.760G>T (p.Ala254Ser) n.534G>T | |
| 12 | g.102852882C= | CA2059446464 | PAH | c.775G= (p.Ala259=) c.760G= (p.Ala254=) n.534G= | |
| 12 | g.102852882C>G | CA386295510 | PAH | c.775G>C (p.Ala259Pro) c.760G>C (p.Ala254Pro) n.534G>C | |
| 12 | g.102852882C>T | CA229755 | PAH | c.775G>A (p.Ala259Thr) c.760G>A (p.Ala254Thr) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |