| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102877501_102877505delinsCTGAT | CA2059462479 | PAH | c.398_402delinsATCAG (p.Asn133=) c.383_387delinsATCAG (p.Asn128=) n.494_498delinsATCAG c.382_386delinsATCAG n.487_491delinsATCAG | |
| 12 | g.102877504_102877507del | CA229531 | PAH | c.398_401del (p.Asn133ArgfsTer?) c.383_386del (p.Asn128ArgfsTer?) n.494_497del c.382_385del n.487_490del | ClinVar dbSNP |
| 12 | g.102877504A= | CA2059462481 | PAH | c.399T= (p.Asn133=) c.384T= (p.Asn128=) n.495T= c.383T= n.488T= | |
| 12 | g.102877504A>C | CA386302185 | PAH | c.399T>G (p.Asn133Lys) c.384T>G (p.Asn128Lys) n.495T>G c.383T>G n.488T>G | |
| 12 | g.102877504A>G | CA6748962 | PAH | c.399T>C (p.Asn133=) c.384T>C (p.Asn128=) n.495T>C c.383T>C n.488T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877504A>T | CA386302186 | PAH | c.399T>A (p.Asn133Lys) c.384T>A (p.Asn128Lys) n.495T>A c.383T>A n.488T>A | |
| 12 | g.102877505T>A | CA386302189 | PAH | c.398A>T (p.Asn133Ile) c.383A>T (p.Asn128Ile) n.494A>T c.382A>T n.487A>T | |
| 12 | g.102877505T>C | CA386302187 | PAH | c.398A>G (p.Asn133Ser) c.383A>G (p.Asn128Ser) n.494A>G c.382A>G n.487A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877505T>G | CA386302188 | PAH | c.398A>C (p.Asn133Thr) c.383A>C (p.Asn128Thr) n.494A>C c.382A>C n.487A>C | |
| 12 | g.102877505T= | CA2059462482 | PAH | c.398A= (p.Asn133=) c.383A= (p.Asn128=) n.494A= c.382A= n.487A= | |
| 12 | g.102877506T>A | CA386302190 | PAH | c.397A>T (p.Asn133Tyr) c.382A>T (p.Asn128Tyr) n.493A>T c.381A>T n.486A>T | |
| 12 | g.102877506T>C | CA386302191 | PAH | c.397A>G (p.Asn133Asp) c.382A>G (p.Asn128Asp) n.493A>G c.381A>G n.486A>G | |
| 12 | g.102877506T>G | CA386302192 | PAH | c.397A>C (p.Asn133His) c.382A>C (p.Asn128His) n.493A>C c.381A>C n.486A>C | dbSNP gnomAD v4 |
| 12 | g.102877506T= | CA2059462483 | PAH | c.397A= (p.Asn133=) c.382A= (p.Asn128=) n.493A= c.381A= n.486A= | |
| 12 | g.102877507G>A | CA481332689 | PAH | c.396C>T (p.Ala132=) c.381C>T (p.Ala127=) n.492C>T c.380C>T n.485C>T | |
| 12 | g.102877507G>C | CA481332688 | PAH | c.396C>G (p.Ala132=) c.381C>G (p.Ala127=) n.492C>G c.380C>G n.485C>G | |
| 12 | g.102877507G>T | CA481332687 | PAH | c.396C>A (p.Ala132=) c.381C>A (p.Ala127=) n.492C>A c.380C>A n.485C>A | COSMIC |
| 12 | g.102877508G>A | CA16020783 | PAH | c.395C>T (p.Ala132Val) c.380C>T (p.Ala127Val) n.491C>T c.379C>T n.484C>T | dbSNP gnomAD v4 |
| 12 | g.102877508G>C | CA242493261 | PAH | c.395C>G (p.Ala132Gly) c.380C>G (p.Ala127Gly) n.491C>G c.379C>G n.484C>G | dbSNP |
| 12 | g.102877508G= | CA2059462484 | PAH | c.395C= (p.Ala132=) c.380C= (p.Ala127=) n.491C= c.379C= n.484C= | |
| 12 | g.102877508G>T | CA386302193 | PAH | c.395C>A (p.Ala132Asp) c.380C>A (p.Ala127Asp) n.491C>A c.379C>A n.484C>A | |
| 12 | g.102877509C>A | CA386302194 | PAH | c.394G>T (p.Ala132Ser) c.379G>T (p.Ala127Ser) n.490G>T c.378G>T n.483G>T | |
| 12 | g.102877509C= | CA2059462485 | PAH | c.394G= (p.Ala132=) c.379G= (p.Ala127=) n.490G= c.378G= n.483G= | |
| 12 | g.102877509C>G | CA386302195 | PAH | c.394G>C (p.Ala132Pro) c.379G>C (p.Ala127Pro) n.490G>C c.378G>C n.483G>C | gnomAD v4 |
| 12 | g.102877509C>T | CA242493266 | PAH | c.394G>A (p.Ala132Thr) c.379G>A (p.Ala127Thr) n.490G>A c.378G>A n.483G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102877510A>C | CA386302196 | PAH | c.393T>G (p.Phe131Leu) c.378T>G (p.Phe126Leu) n.489T>G c.377T>G n.482T>G | |
| 12 | g.102877510A>G | CA481332690 | PAH | c.393T>C (p.Phe131=) c.378T>C (p.Phe126=) n.489T>C c.377T>C n.482T>C | |
| 12 | g.102877510A>T | CA386302197 | PAH | c.393T>A (p.Phe131Leu) c.378T>A (p.Phe126Leu) n.489T>A c.377T>A n.482T>A | |
| 12 | g.102877511A= | CA2059462486 | PAH | c.392T= (p.Phe131=) c.377T= (p.Phe126=) n.488T= c.376T= n.481T= | |
| 12 | g.102877511A>C | CA386302200 | PAH | c.392T>G (p.Phe131Cys) c.377T>G (p.Phe126Cys) n.488T>G c.376T>G n.481T>G | |
| 12 | g.102877511A>G | CA386302199 | PAH | c.392T>C (p.Phe131Ser) c.377T>C (p.Phe126Ser) n.488T>C c.376T>C n.481T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102877511A>T | CA386302198 | PAH | c.392T>A (p.Phe131Tyr) c.377T>A (p.Phe126Tyr) n.488T>A c.376T>A n.481T>A | |
| 12 | g.102877512A>C | CA386302201 | PAH | c.391T>G (p.Phe131Val) c.376T>G (p.Phe126Val) n.487T>G c.375T>G n.480T>G | |
| 12 | g.102877512A>G | CA386302203 | PAH | c.391T>C (p.Phe131Leu) c.376T>C (p.Phe126Leu) n.487T>C c.375T>C n.480T>C | |
| 12 | g.102877512A>T | CA386302202 | PAH | c.391T>A (p.Phe131Ile) c.376T>A (p.Phe126Ile) n.487T>A c.375T>A n.480T>A | |
| 12 | g.102877513T>A | CA386302204 | PAH | c.390A>T (p.Arg130Ser) c.375A>T (p.Arg125Ser) n.486A>T c.374A>T n.479A>T | |
| 12 | g.102877513T>C | CA481332691 | PAH | c.390A>G (p.Arg130=) c.375A>G (p.Arg125=) n.486A>G c.374A>G n.479A>G | |
| 12 | g.102877513T>G | CA386302205 | PAH | c.390A>C (p.Arg130Ser) c.375A>C (p.Arg125Ser) n.486A>C c.374A>C n.479A>C | |
| 12 | g.102877514C>A | CA386302206 | PAH | c.389G>T (p.Arg130Ile) c.374G>T (p.Arg125Ile) n.485G>T c.373G>T n.478G>T | |
| 12 | g.102877514C>G | CA386302207 | PAH | c.389G>C (p.Arg130Thr) c.374G>C (p.Arg125Thr) n.485G>C c.373G>C n.478G>C | |
| 12 | g.102877514C>T | CA386302208 | PAH | c.389G>A (p.Arg130Lys) c.374G>A (p.Arg125Lys) n.485G>A c.373G>A n.478G>A | gnomAD v4 COSMIC |
| 12 | g.102877515T>A | CA386302209 | PAH | c.388A>T (p.Arg130Ter) c.373A>T (p.Arg125Ter) n.484A>T c.372A>T n.477A>T | |
| 12 | g.102877515T>C | CA386302210 | PAH | c.388A>G (p.Arg130Gly) c.373A>G (p.Arg125Gly) n.484A>G c.372A>G n.477A>G | |
| 12 | g.102877515T>G | CA481332692 | PAH | c.388A>C (p.Arg130=) c.373A>C (p.Arg125=) n.484A>C c.372A>C n.477A>C | |
| 12 | g.102877516G>A | CA481332693 | PAH | c.387C>T (p.Asp129=) c.372C>T (p.Asp124=) n.483C>T c.371C>T n.476C>T | gnomAD v4 |
| 12 | g.102877516G>C | CA386302211 | PAH | c.387C>G (p.Asp129Glu) c.372C>G (p.Asp124Glu) n.483C>G c.371C>G n.476C>G | |
| 12 | g.102877516G>T | CA386302212 | PAH | c.387C>A (p.Asp129Glu) c.372C>A (p.Asp124Glu) n.483C>A c.371C>A n.476C>A | COSMIC |
| 12 | g.102877517T>A | CA229529 | PAH | c.386A>T (p.Asp129Val) c.371A>T (p.Asp124Val) n.482A>T c.370A>T n.475A>T | ClinVar dbSNP |
| 12 | g.102877517T>C | CA229527 | PAH | c.386A>G (p.Asp129Gly) c.371A>G (p.Asp124Gly) n.482A>G c.370A>G n.475A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102877517T>G | CA386302213 | PAH | c.386A>C (p.Asp129Ala) c.371A>C (p.Asp124Ala) n.482A>C c.370A>C n.475A>C |