OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110618331T>A | CA357983561 | PITX2 | c.*17A>T (n.*17A>T) c.667A>T (p.Ser223Cys) n.735A>T n.739A>T c.748A>T (p.Ser250Cys) n.811A>T c.769A>T (p.Ser257Cys) n.700A>T c.610A>T (p.Ser204Cys) n.496A>T c.415A>T (p.Ser139Cys) | |
| 4 | g.110618331T>C | CA357983562 | PITX2 | c.*17A>G (n.*17A>G) c.667A>G (p.Ser223Gly) n.735A>G n.739A>G c.748A>G (p.Ser250Gly) n.811A>G c.769A>G (p.Ser257Gly) n.700A>G c.610A>G (p.Ser204Gly) n.496A>G c.415A>G (p.Ser139Gly) | |
| 4 | g.110618331T>G | CA357983563 | PITX2 | c.*17A>C (n.*17A>C) c.667A>C (p.Ser223Arg) n.735A>C n.739A>C c.748A>C (p.Ser250Arg) n.811A>C c.769A>C (p.Ser257Arg) n.700A>C c.610A>C (p.Ser204Arg) n.496A>C c.415A>C (p.Ser139Arg) | |
| 4 | g.110618332A>C | CA357983564 | PITX2 | c.*16T>G (n.*16T>G) c.666T>G (p.Ser222Arg) n.734T>G n.738T>G c.747T>G (p.Ser249Arg) n.810T>G c.768T>G (p.Ser256Arg) n.699T>G c.609T>G (p.Ser203Arg) n.495T>G c.414T>G (p.Ser138Arg) | gnomAD v4 |
| 4 | g.110618332A>G | CA440822289 | PITX2 | c.*16T>C (n.*16T>C) c.666T>C (p.Ser222=) n.734T>C n.738T>C c.747T>C (p.Ser249=) n.810T>C c.768T>C (p.Ser256=) n.699T>C c.609T>C (p.Ser203=) n.495T>C c.414T>C (p.Ser138=) | gnomAD v3 gnomAD v4 |
| 4 | g.110618332A>T | CA357983565 | PITX2 | c.*16T>A (n.*16T>A) c.666T>A (p.Ser222Arg) n.734T>A n.738T>A c.747T>A (p.Ser249Arg) n.810T>A c.768T>A (p.Ser256Arg) n.699T>A c.609T>A (p.Ser203Arg) n.495T>A c.414T>A (p.Ser138Arg) | |
| 4 | g.110618333C>A | CA357983567 | PITX2 | c.*15G>T (n.*15G>T) c.665G>T (p.Ser222Ile) n.733G>T n.737G>T c.746G>T (p.Ser249Ile) n.809G>T c.767G>T (p.Ser256Ile) n.698G>T c.608G>T (p.Ser203Ile) n.494G>T c.413G>T (p.Ser138Ile) | |
| 4 | g.110618333C= | CA1485137330 | PITX2 | c.*15G= (n.*15G=) c.665G= (p.Ser222=) n.733G= n.737G= c.746G= (p.Ser249=) n.809G= c.767G= (p.Ser256=) n.698G= c.608G= (p.Ser203=) n.494G= c.413G= (p.Ser138=) | |
| 4 | g.110618333C>G | CA357983568 | PITX2 | c.*15G>C (n.*15G>C) c.665G>C (p.Ser222Thr) n.733G>C n.737G>C c.746G>C (p.Ser249Thr) n.809G>C c.767G>C (p.Ser256Thr) n.698G>C c.608G>C (p.Ser203Thr) n.494G>C c.413G>C (p.Ser138Thr) | |
| 4 | g.110618333C>T | CA357983566 | PITX2 | c.*15G>A (n.*15G>A) c.665G>A (p.Ser222Asn) n.733G>A n.737G>A c.746G>A (p.Ser249Asn) n.809G>A c.767G>A (p.Ser256Asn) n.698G>A c.608G>A (p.Ser203Asn) n.494G>A c.413G>A (p.Ser138Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618334T>A | CA357983571 | PITX2 | c.*14A>T (n.*14A>T) c.664A>T (p.Ser222Cys) n.732A>T n.736A>T c.745A>T (p.Ser249Cys) n.808A>T c.766A>T (p.Ser256Cys) n.697A>T c.607A>T (p.Ser203Cys) n.493A>T c.412A>T (p.Ser138Cys) | |
| 4 | g.110618334T>C | CA357983569 | PITX2 | c.*14A>G (n.*14A>G) c.664A>G (p.Ser222Gly) n.732A>G n.736A>G c.745A>G (p.Ser249Gly) n.808A>G c.766A>G (p.Ser256Gly) n.697A>G c.607A>G (p.Ser203Gly) n.493A>G c.412A>G (p.Ser138Gly) | |
| 4 | g.110618334T>G | CA357983570 | PITX2 | c.*14A>C (n.*14A>C) c.664A>C (p.Ser222Arg) n.732A>C n.736A>C c.745A>C (p.Ser249Arg) n.808A>C c.766A>C (p.Ser256Arg) n.697A>C c.607A>C (p.Ser203Arg) n.493A>C c.412A>C (p.Ser138Arg) | COSMIC |
| 4 | g.110618335C>A | CA440822290 | PITX2 | c.*13G>T (n.*13G>T) c.663G>T (p.Leu221=) n.731G>T n.735G>T c.744G>T (p.Leu248=) n.807G>T c.765G>T (p.Leu255=) n.696G>T c.606G>T (p.Leu202=) n.492G>T c.411G>T (p.Leu137=) | |
| 4 | g.110618335C= | CA1485137331 | PITX2 | c.*13G= (n.*13G=) c.663G= (p.Leu221=) n.731G= n.735G= c.744G= (p.Leu248=) n.807G= c.765G= (p.Leu255=) n.696G= c.606G= (p.Leu202=) n.492G= c.411G= (p.Leu137=) | |
| 4 | g.110618335C>G | CA440822291 | PITX2 | c.*13G>C (n.*13G>C) c.663G>C (p.Leu221=) n.731G>C n.735G>C c.744G>C (p.Leu248=) n.807G>C c.765G>C (p.Leu255=) n.696G>C c.606G>C (p.Leu202=) n.492G>C c.411G>C (p.Leu137=) | |
| 4 | g.110618335C>T | CA104044354 | PITX2 | c.*13G>A (n.*13G>A) c.663G>A (p.Leu221=) n.731G>A n.735G>A c.744G>A (p.Leu248=) n.807G>A c.765G>A (p.Leu255=) n.696G>A c.606G>A (p.Leu202=) n.492G>A c.411G>A (p.Leu137=) | dbSNP gnomAD v4 |
| 4 | g.110618336A>C | CA357983572 | PITX2 | c.*12T>G (n.*12T>G) c.662T>G (p.Leu221Arg) n.730T>G n.734T>G c.743T>G (p.Leu248Arg) n.806T>G c.764T>G (p.Leu255Arg) n.695T>G c.605T>G (p.Leu202Arg) n.491T>G c.410T>G (p.Leu137Arg) | |
| 4 | g.110618336A>G | CA357983573 | PITX2 | c.*12T>C (n.*12T>C) c.662T>C (p.Leu221Pro) n.730T>C n.734T>C c.743T>C (p.Leu248Pro) n.806T>C c.764T>C (p.Leu255Pro) n.695T>C c.605T>C (p.Leu202Pro) n.491T>C c.410T>C (p.Leu137Pro) | |
| 4 | g.110618336A>T | CA357983574 | PITX2 | c.*12T>A (n.*12T>A) c.662T>A (p.Leu221Gln) n.730T>A n.734T>A c.743T>A (p.Leu248Gln) n.806T>A c.764T>A (p.Leu255Gln) n.695T>A c.605T>A (p.Leu202Gln) n.491T>A c.410T>A (p.Leu137Gln) | |
| 4 | g.110618337G>A | CA440822292 | PITX2 | c.*11C>T (n.*11C>T) c.661C>T (p.Leu221=) n.729C>T n.733C>T c.742C>T (p.Leu248=) n.805C>T c.763C>T (p.Leu255=) n.694C>T c.604C>T (p.Leu202=) n.490C>T c.409C>T (p.Leu137=) | dbSNP |
| 4 | g.110618337G>C | CA357983575 | PITX2 | c.*11C>G (n.*11C>G) c.661C>G (p.Leu221Val) n.729C>G n.733C>G c.742C>G (p.Leu248Val) n.805C>G c.763C>G (p.Leu255Val) n.694C>G c.604C>G (p.Leu202Val) n.490C>G c.409C>G (p.Leu137Val) | |
| 4 | g.110618337G= | CA1485137332 | PITX2 | c.*11C= (n.*11C=) c.661C= (p.Leu221=) n.729C= n.733C= c.742C= (p.Leu248=) n.805C= c.763C= (p.Leu255=) n.694C= c.604C= (p.Leu202=) n.490C= c.409C= (p.Leu137=) | |
| 4 | g.110618337G>T | CA357983576 | PITX2 | c.*11C>A (n.*11C>A) c.661C>A (p.Leu221Met) n.729C>A n.733C>A c.742C>A (p.Leu248Met) n.805C>A c.763C>A (p.Leu255Met) n.694C>A c.604C>A (p.Leu202Met) n.490C>A c.409C>A (p.Leu137Met) | dbSNP |
| 4 | g.110618338G>A | CA440822293 | PITX2 | c.*10C>T (n.*10C>T) c.660C>T (p.Asn220=) n.728C>T n.732C>T c.741C>T (p.Asn247=) n.804C>T c.762C>T (p.Asn254=) n.693C>T c.603C>T (p.Asn201=) n.489C>T c.408C>T (p.Asn136=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618338G>C | CA357983577 | PITX2 | c.*10C>G (n.*10C>G) c.660C>G (p.Asn220Lys) n.728C>G n.732C>G c.741C>G (p.Asn247Lys) n.804C>G c.762C>G (p.Asn254Lys) n.693C>G c.603C>G (p.Asn201Lys) n.489C>G c.408C>G (p.Asn136Lys) | |
| 4 | g.110618338G= | CA1485137333 | PITX2 | c.*10C= (n.*10C=) c.660C= (p.Asn220=) n.728C= n.732C= c.741C= (p.Asn247=) n.804C= c.762C= (p.Asn254=) n.693C= c.603C= (p.Asn201=) n.489C= c.408C= (p.Asn136=) | |
| 4 | g.110618338G>T | CA357983578 | PITX2 | c.*10C>A (n.*10C>A) c.660C>A (p.Asn220Lys) n.728C>A n.732C>A c.741C>A (p.Asn247Lys) n.804C>A c.762C>A (p.Asn254Lys) n.693C>A c.603C>A (p.Asn201Lys) n.489C>A c.408C>A (p.Asn136Lys) | |
| 4 | g.110618341_110618343del | CA2671769380 | PITX2 | c.*8_*10del (n.*8_*10del) c.658_660del (p.Asn220del) n.726_728del n.730_732del c.739_741del (p.Asn247del) n.802_804del c.760_762del (p.Asn254del) n.691_693del c.601_603del (p.Asn201del) n.487_489del c.406_408del (p.Asn136del) | gnomAD v4 |
| 4 | g.110618339T>A | CA357983579 | PITX2 | c.*9A>T (n.*9A>T) c.659A>T (p.Asn220Ile) n.727A>T n.731A>T c.740A>T (p.Asn247Ile) n.803A>T c.761A>T (p.Asn254Ile) n.692A>T c.602A>T (p.Asn201Ile) n.488A>T c.407A>T (p.Asn136Ile) | |
| 4 | g.110618339T>C | CA357983580 | PITX2 | c.*9A>G (n.*9A>G) c.659A>G (p.Asn220Ser) n.727A>G n.731A>G c.740A>G (p.Asn247Ser) n.803A>G c.761A>G (p.Asn254Ser) n.692A>G c.602A>G (p.Asn201Ser) n.488A>G c.407A>G (p.Asn136Ser) | |
| 4 | g.110618339T>G | CA357983581 | PITX2 | c.*9A>C (n.*9A>C) c.659A>C (p.Asn220Thr) n.727A>C n.731A>C c.740A>C (p.Asn247Thr) n.803A>C c.761A>C (p.Asn254Thr) n.692A>C c.602A>C (p.Asn201Thr) n.488A>C c.407A>C (p.Asn136Thr) | dbSNP |
| 4 | g.110618339T= | CA1485137334 | PITX2 | c.*9A= (n.*9A=) c.659A= (p.Asn220=) n.727A= n.731A= c.740A= (p.Asn247=) n.803A= c.761A= (p.Asn254=) n.692A= c.602A= (p.Asn201=) n.488A= c.407A= (p.Asn136=) | |
| 4 | g.110618340T>A | CA357983584 | PITX2 | c.*8A>T (n.*8A>T) c.658A>T (p.Asn220Tyr) n.726A>T n.730A>T c.739A>T (p.Asn247Tyr) n.802A>T c.760A>T (p.Asn254Tyr) n.691A>T c.601A>T (p.Asn201Tyr) n.487A>T c.406A>T (p.Asn136Tyr) | |
| 4 | g.110618340T>C | CA357983583 | PITX2 | c.*8A>G (n.*8A>G) c.658A>G (p.Asn220Asp) n.726A>G n.730A>G c.739A>G (p.Asn247Asp) n.802A>G c.760A>G (p.Asn254Asp) n.691A>G c.601A>G (p.Asn201Asp) n.487A>G c.406A>G (p.Asn136Asp) | |
| 4 | g.110618340T>G | CA357983582 | PITX2 | c.*8A>C (n.*8A>C) c.658A>C (p.Asn220His) n.726A>C n.730A>C c.739A>C (p.Asn247His) n.802A>C c.760A>C (p.Asn254His) n.691A>C c.601A>C (p.Asn201His) n.487A>C c.406A>C (p.Asn136His) | |
| 4 | g.110618341G>A | CA440822294 | PITX2 | c.*7C>T (n.*7C>T) c.657C>T (p.Asn219=) n.725C>T n.729C>T c.738C>T (p.Asn246=) n.801C>T c.759C>T (p.Asn253=) n.690C>T c.600C>T (p.Asn200=) n.486C>T c.405C>T (p.Asn135=) | |
| 4 | g.110618341G>C | CA357983585 | PITX2 | c.*7C>G (n.*7C>G) c.657C>G (p.Asn219Lys) n.725C>G n.729C>G c.738C>G (p.Asn246Lys) n.801C>G c.759C>G (p.Asn253Lys) n.690C>G c.600C>G (p.Asn200Lys) n.486C>G c.405C>G (p.Asn135Lys) | |
| 4 | g.110618341G>T | CA357983586 | PITX2 | c.*7C>A (n.*7C>A) c.657C>A (p.Asn219Lys) n.725C>A n.729C>A c.738C>A (p.Asn246Lys) n.801C>A c.759C>A (p.Asn253Lys) n.690C>A c.600C>A (p.Asn200Lys) n.486C>A c.405C>A (p.Asn135Lys) | |
| 4 | g.110618342T>A | CA357983587 | PITX2 | c.*6A>T (n.*6A>T) c.656A>T (p.Asn219Ile) n.724A>T n.728A>T c.737A>T (p.Asn246Ile) n.800A>T c.758A>T (p.Asn253Ile) n.689A>T c.599A>T (p.Asn200Ile) n.485A>T c.404A>T (p.Asn135Ile) | |
| 4 | g.110618342T>C | CA357983588 | PITX2 | c.*6A>G (n.*6A>G) c.656A>G (p.Asn219Ser) n.724A>G n.728A>G c.737A>G (p.Asn246Ser) n.800A>G c.758A>G (p.Asn253Ser) n.689A>G c.599A>G (p.Asn200Ser) n.485A>G c.404A>G (p.Asn135Ser) | |
| 4 | g.110618342T>G | CA357983589 | PITX2 | c.*6A>C (n.*6A>C) c.656A>C (p.Asn219Thr) n.724A>C n.728A>C c.737A>C (p.Asn246Thr) n.800A>C c.758A>C (p.Asn253Thr) n.689A>C c.599A>C (p.Asn200Thr) n.485A>C c.404A>C (p.Asn135Thr) | |
| 4 | g.110618346_110618354del | CA2671769381 | PITX2 | c.523_*6del (n.[c.523_*6del;Ter175GlnextTer4]) c.648_656del (p.Asn217_Asn219del) n.716_724del n.720_728del c.729_737del (p.Asn244_Asn246del) n.792_800del c.750_758del (p.Asn251_Asn253del) n.681_689del c.591_599del (p.Asn198_Asn200del) n.477_485del c.396_404del (p.Asn133_Asn135del) | gnomAD v4 |
| 4 | g.110618343T>A | CA357983590 | PITX2 | c.*5A>T (n.*5A>T) c.655A>T (p.Asn219Tyr) n.723A>T n.727A>T c.736A>T (p.Asn246Tyr) n.799A>T c.757A>T (p.Asn253Tyr) n.688A>T c.598A>T (p.Asn200Tyr) n.484A>T c.403A>T (p.Asn135Tyr) | |
| 4 | g.110618343T>C | CA357983591 | PITX2 | c.*5A>G (n.*5A>G) c.655A>G (p.Asn219Asp) n.723A>G n.727A>G c.736A>G (p.Asn246Asp) n.799A>G c.757A>G (p.Asn253Asp) n.688A>G c.598A>G (p.Asn200Asp) n.484A>G c.403A>G (p.Asn135Asp) | |
| 4 | g.110618343T>G | CA357983592 | PITX2 | c.*5A>C (n.*5A>C) c.655A>C (p.Asn219His) n.723A>C n.727A>C c.736A>C (p.Asn246His) n.799A>C c.757A>C (p.Asn253His) n.688A>C c.598A>C (p.Asn200His) n.484A>C c.403A>C (p.Asn135His) | |
| 4 | g.110618344C>A | CA357983593 | PITX2 | c.*4G>T (n.*4G>T) c.654G>T (p.Leu218Phe) n.722G>T n.726G>T c.735G>T (p.Leu245Phe) n.798G>T c.756G>T (p.Leu252Phe) n.687G>T c.597G>T (p.Leu199Phe) n.483G>T c.402G>T (p.Leu134Phe) | |
| 4 | g.110618344C= | CA1485137335 | PITX2 | c.*4G= (n.*4G=) c.654G= (p.Leu218=) n.722G= n.726G= c.735G= (p.Leu245=) n.798G= c.756G= (p.Leu252=) n.687G= c.597G= (p.Leu199=) n.483G= c.402G= (p.Leu134=) | |
| 4 | g.110618344C>G | CA357983594 | PITX2 | c.*4G>C (n.*4G>C) c.654G>C (p.Leu218Phe) n.722G>C n.726G>C c.735G>C (p.Leu245Phe) n.798G>C c.756G>C (p.Leu252Phe) n.687G>C c.597G>C (p.Leu199Phe) n.483G>C c.402G>C (p.Leu134Phe) | |
| 4 | g.110618344C>T | CA440822295 | PITX2 | c.*4G>A (n.*4G>A) c.654G>A (p.Leu218=) n.722G>A n.726G>A c.735G>A (p.Leu245=) n.798G>A c.756G>A (p.Leu252=) n.687G>A c.597G>A (p.Leu199=) n.483G>A c.402G>A (p.Leu134=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618345A= | CA1485137336 | PITX2 | c.*3T= (n.*3T=) c.653T= (p.Leu218=) n.721T= n.725T= c.734T= (p.Leu245=) n.797T= c.755T= (p.Leu252=) n.686T= c.596T= (p.Leu199=) n.482T= c.401T= (p.Leu134=) | |
| 4 | g.110618345A>C | CA3045433 | PITX2 | c.*3T>G (n.*3T>G) c.653T>G (p.Leu218Trp) n.721T>G n.725T>G c.734T>G (p.Leu245Trp) n.797T>G c.755T>G (p.Leu252Trp) n.686T>G c.596T>G (p.Leu199Trp) n.482T>G c.401T>G (p.Leu134Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618345A>G | CA357983595 | PITX2 | c.*3T>C (n.*3T>C) c.653T>C (p.Leu218Ser) n.721T>C n.725T>C c.734T>C (p.Leu245Ser) n.797T>C c.755T>C (p.Leu252Ser) n.686T>C c.596T>C (p.Leu199Ser) n.482T>C c.401T>C (p.Leu134Ser) | |
| 4 | g.110618345A>T | CA357983596 | PITX2 | c.*3T>A (n.*3T>A) c.653T>A (p.Leu218Ter) n.721T>A n.725T>A c.734T>A (p.Leu245Ter) n.797T>A c.755T>A (p.Leu252Ter) n.686T>A c.596T>A (p.Leu199Ter) n.482T>A c.401T>A (p.Leu134Ter) | |
| 4 | g.110618346A>C | CA357983598 | PITX2 | c.*2T>G (n.*2T>G) c.652T>G (p.Leu218Val) n.720T>G n.724T>G c.733T>G (p.Leu245Val) n.796T>G c.754T>G (p.Leu252Val) n.685T>G c.595T>G (p.Leu199Val) n.481T>G c.400T>G (p.Leu134Val) | |
| 4 | g.110618346A>G | CA440822296 | PITX2 | c.*2T>C (n.*2T>C) c.652T>C (p.Leu218=) n.720T>C n.724T>C c.733T>C (p.Leu245=) n.796T>C c.754T>C (p.Leu252=) n.685T>C c.595T>C (p.Leu199=) n.481T>C c.400T>C (p.Leu134=) | |
| 4 | g.110618346A>T | CA357983597 | PITX2 | c.*2T>A (n.*2T>A) c.652T>A (p.Leu218Met) n.720T>A n.724T>A c.733T>A (p.Leu245Met) n.796T>A c.754T>A (p.Leu252Met) n.685T>A c.595T>A (p.Leu199Met) n.481T>A c.400T>A (p.Leu134Met) | |
| 4 | g.110618347G>A | CA440822297 | PITX2 | c.*1C>T (n.*1C>T) c.651C>T (p.Asn217=) n.719C>T n.723C>T c.732C>T (p.Asn244=) n.795C>T c.753C>T (p.Asn251=) n.684C>T c.594C>T (p.Asn198=) n.480C>T c.399C>T (p.Asn133=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618347G>C | CA357983599 | PITX2 | c.*1C>G (n.*1C>G) c.651C>G (p.Asn217Lys) n.719C>G n.723C>G c.732C>G (p.Asn244Lys) n.795C>G c.753C>G (p.Asn251Lys) n.684C>G c.594C>G (p.Asn198Lys) n.480C>G c.399C>G (p.Asn133Lys) | gnomAD v4 |
| 4 | g.110618347G= | CA1485137337 | PITX2 | c.*1C= (n.*1C=) c.651C= (p.Asn217=) n.719C= n.723C= c.732C= (p.Asn244=) n.795C= c.753C= (p.Asn251=) n.684C= c.594C= (p.Asn198=) n.480C= c.399C= (p.Asn133=) | |
| 4 | g.110618347G>T | CA357983600 | PITX2 | c.*1C>A (n.*1C>A) c.651C>A (p.Asn217Lys) n.719C>A n.723C>A c.732C>A (p.Asn244Lys) n.795C>A c.753C>A (p.Asn251Lys) n.684C>A c.594C>A (p.Asn198Lys) n.480C>A c.399C>A (p.Asn133Lys) | |
| 4 | g.110618348T>A | CA357983601 | PITX2 | c.525A>T (p.Ter175Tyr) c.650A>T (p.Asn217Ile) n.718A>T n.722A>T c.731A>T (p.Asn244Ile) n.794A>T c.752A>T (p.Asn251Ile) n.683A>T c.593A>T (p.Asn198Ile) n.479A>T c.398A>T (p.Asn133Ile) | |
| 4 | g.110618348T>C | CA357983602 | PITX2 | c.525A>G (p.Ter175=) c.650A>G (p.Asn217Ser) n.718A>G n.722A>G c.731A>G (p.Asn244Ser) n.794A>G c.752A>G (p.Asn251Ser) n.683A>G c.593A>G (p.Asn198Ser) n.479A>G c.398A>G (p.Asn133Ser) | |
| 4 | g.110618348T>G | CA357983603 | PITX2 | c.525A>C (p.Ter175Tyr) c.650A>C (p.Asn217Thr) n.718A>C n.722A>C c.731A>C (p.Asn244Thr) n.794A>C c.752A>C (p.Asn251Thr) n.683A>C c.593A>C (p.Asn198Thr) n.479A>C c.398A>C (p.Asn133Thr) | |
| 4 | g.110618349T>A | CA357983604 | PITX2 | c.524A>T (p.Ter175Leu) c.649A>T (p.Asn217Tyr) n.717A>T n.721A>T c.730A>T (p.Asn244Tyr) n.793A>T c.751A>T (p.Asn251Tyr) n.682A>T c.592A>T (p.Asn198Tyr) n.478A>T c.397A>T (p.Asn133Tyr) | |
| 4 | g.110618349T>C | CA357983605 | PITX2 | c.524A>G (p.Ter175=) c.649A>G (p.Asn217Asp) n.717A>G n.721A>G c.730A>G (p.Asn244Asp) n.793A>G c.751A>G (p.Asn251Asp) n.682A>G c.592A>G (p.Asn198Asp) n.478A>G c.397A>G (p.Asn133Asp) | |
| 4 | g.110618349T>G | CA357983606 | PITX2 | c.524A>C (p.Ter175Ser) c.649A>C (p.Asn217His) n.717A>C n.721A>C c.730A>C (p.Asn244His) n.793A>C c.751A>C (p.Asn251His) n.682A>C c.592A>C (p.Asn198His) n.478A>C c.397A>C (p.Asn133His) | |
| 4 | g.110618350A>C | CA357983607 | PITX2 | c.523T>G (p.Ter175Glu) c.648T>G (p.Asn216Lys) n.716T>G n.720T>G c.729T>G (p.Asn243Lys) n.792T>G c.750T>G (p.Asn250Lys) n.681T>G c.591T>G (p.Asn197Lys) n.477T>G c.396T>G (p.Asn132Lys) | |
| 4 | g.110618350A>G | CA357983608 | PITX2 | c.523T>C (p.Ter175Gln) c.648T>C (p.Asn216=) n.716T>C n.720T>C c.729T>C (p.Asn243=) n.792T>C c.750T>C (p.Asn250=) n.681T>C c.591T>C (p.Asn197=) n.477T>C c.396T>C (p.Asn132=) | |
| 4 | g.110618350A>T | CA357983609 | PITX2 | c.523T>A (p.Ter175Lys) c.648T>A (p.Asn216Lys) n.716T>A n.720T>A c.729T>A (p.Asn243Lys) n.792T>A c.750T>A (p.Asn250Lys) n.681T>A c.591T>A (p.Asn197Lys) n.477T>A c.396T>A (p.Asn132Lys) | COSMIC COSMIC |
| 4 | g.110618351T>A | CA357983610 | PITX2 | c.522A>T (p.Glu174Asp) c.647A>T (p.Asn216Ile) n.715A>T n.719A>T c.728A>T (p.Asn243Ile) n.791A>T c.749A>T (p.Asn250Ile) n.680A>T c.590A>T (p.Asn197Ile) n.476A>T c.395A>T (p.Asn132Ile) | |
| 4 | g.110618351T>C | CA357983611 | PITX2 | c.522A>G (p.Glu174=) c.647A>G (p.Asn216Ser) n.715A>G n.719A>G c.728A>G (p.Asn243Ser) n.791A>G c.749A>G (p.Asn250Ser) n.680A>G c.590A>G (p.Asn197Ser) n.476A>G c.395A>G (p.Asn132Ser) | gnomAD v4 |
| 4 | g.110618351T>G | CA357983612 | PITX2 | c.522A>C (p.Glu174Asp) c.647A>C (p.Asn216Thr) n.715A>C n.719A>C c.728A>C (p.Asn243Thr) n.791A>C c.749A>C (p.Asn250Thr) n.680A>C c.590A>C (p.Asn197Thr) n.476A>C c.395A>C (p.Asn132Thr) | |
| 4 | g.110618352T>A | CA357983615 | PITX2 | c.521A>T (p.Glu174Val) c.646A>T (p.Asn216Tyr) n.714A>T n.718A>T c.727A>T (p.Asn243Tyr) n.790A>T c.748A>T (p.Asn250Tyr) n.679A>T c.589A>T (p.Asn197Tyr) n.475A>T c.394A>T (p.Asn132Tyr) | |
| 4 | g.110618352T>C | CA357983614 | PITX2 | c.521A>G (p.Glu174Gly) c.646A>G (p.Asn216Asp) n.714A>G n.718A>G c.727A>G (p.Asn243Asp) n.790A>G c.748A>G (p.Asn250Asp) n.679A>G c.589A>G (p.Asn197Asp) n.475A>G c.394A>G (p.Asn132Asp) | |
| 4 | g.110618352T>G | CA357983613 | PITX2 | c.521A>C (p.Glu174Ala) c.646A>C (p.Asn216His) n.714A>C n.718A>C c.727A>C (p.Asn243His) n.790A>C c.748A>C (p.Asn250His) n.679A>C c.589A>C (p.Asn197His) n.475A>C c.394A>C (p.Asn132His) | |
| 4 | g.110618353C>A | CA357983616 | PITX2 | c.520G>T (p.Glu174Ter) c.645G>T (p.Leu215=) n.713G>T n.717G>T c.726G>T (p.Leu242=) n.789G>T c.747G>T (p.Leu249=) n.678G>T c.588G>T (p.Leu196=) n.474G>T c.393G>T (p.Leu131=) | |
| 4 | g.110618353C>G | CA357983617 | PITX2 | c.520G>C (p.Glu174Gln) c.645G>C (p.Leu215=) n.713G>C n.717G>C c.726G>C (p.Leu242=) n.789G>C c.747G>C (p.Leu249=) n.678G>C c.588G>C (p.Leu196=) n.474G>C c.393G>C (p.Leu131=) | |
| 4 | g.110618353C>T | CA357983618 | PITX2 | c.520G>A (p.Glu174Lys) c.645G>A (p.Leu215=) n.713G>A n.717G>A c.726G>A (p.Leu242=) n.789G>A c.747G>A (p.Leu249=) n.678G>A c.588G>A (p.Leu196=) n.474G>A c.393G>A (p.Leu131=) | |
| 4 | g.110618354A>C | CA357983619 | PITX2 | c.519T>G (p.Pro173=) c.644T>G (p.Leu215Arg) n.712T>G n.716T>G c.725T>G (p.Leu242Arg) n.788T>G c.746T>G (p.Leu249Arg) n.677T>G c.587T>G (p.Leu196Arg) n.473T>G c.392T>G (p.Leu131Arg) | gnomAD v4 |
| 4 | g.110618354A>G | CA357983620 | PITX2 | c.519T>C (p.Pro173=) c.644T>C (p.Leu215Pro) n.712T>C n.716T>C c.725T>C (p.Leu242Pro) n.788T>C c.746T>C (p.Leu249Pro) n.677T>C c.587T>C (p.Leu196Pro) n.473T>C c.392T>C (p.Leu131Pro) | |
| 4 | g.110618354A>T | CA357983621 | PITX2 | c.519T>A (p.Pro173=) c.644T>A (p.Leu215Gln) n.712T>A n.716T>A c.725T>A (p.Leu242Gln) n.788T>A c.746T>A (p.Leu249Gln) n.677T>A c.587T>A (p.Leu196Gln) n.473T>A c.392T>A (p.Leu131Gln) | |
| 4 | g.110618355G>A | CA357983622 | PITX2 | c.518C>T (p.Pro173Leu) c.643C>T (p.Leu215=) n.711C>T n.715C>T c.724C>T (p.Leu242=) n.787C>T c.745C>T (p.Leu249=) n.676C>T c.586C>T (p.Leu196=) n.472C>T c.391C>T (p.Leu131=) | |
| 4 | g.110618355G>C | CA357983623 | PITX2 | c.518C>G (p.Pro173Arg) c.643C>G (p.Leu215Val) n.711C>G n.715C>G c.724C>G (p.Leu242Val) n.787C>G c.745C>G (p.Leu249Val) n.676C>G c.586C>G (p.Leu196Val) n.472C>G c.391C>G (p.Leu131Val) | |
| 4 | g.110618355G>T | CA357983624 | PITX2 | c.518C>A (p.Pro173His) c.643C>A (p.Leu215Met) n.711C>A n.715C>A c.724C>A (p.Leu242Met) n.787C>A c.745C>A (p.Leu249Met) n.676C>A c.586C>A (p.Leu196Met) n.472C>A c.391C>A (p.Leu131Met) | |
| 4 | g.110618356G>A | CA357983625 | PITX2 | c.517C>T (p.Pro173Ser) c.642C>T (p.Ser214=) n.710C>T n.714C>T c.723C>T (p.Ser241=) n.786C>T c.744C>T (p.Ser248=) n.675C>T c.585C>T (p.Ser195=) n.471C>T c.390C>T (p.Ser130=) | dbSNP |
| 4 | g.110618356G>C | CA357983626 | PITX2 | c.517C>G (p.Pro173Ala) c.642C>G (p.Ser214Arg) n.710C>G n.714C>G c.723C>G (p.Ser241Arg) n.786C>G c.744C>G (p.Ser248Arg) n.675C>G c.585C>G (p.Ser195Arg) n.471C>G c.390C>G (p.Ser130Arg) | |
| 4 | g.110618356G= | CA1485097764 | PITX2 | c.517C= (p.Pro173=) c.642C= (p.Ser214=) n.710C= n.714C= c.723C= (p.Ser241=) n.786C= c.744C= (p.Ser248=) n.675C= c.585C= (p.Ser195=) n.471C= c.390C= (p.Ser130=) | |
| 4 | g.110618356G>T | CA357983627 | PITX2 | c.517C>A (p.Pro173Thr) c.642C>A (p.Ser214Arg) n.710C>A n.714C>A c.723C>A (p.Ser241Arg) n.786C>A c.744C>A (p.Ser248Arg) n.675C>A c.585C>A (p.Ser195Arg) n.471C>A c.390C>A (p.Ser130Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618357C>A | CA357983630 | PITX2 | c.516G>T (p.Gln172His) c.641G>T (p.Ser214Ile) n.709G>T n.713G>T c.722G>T (p.Ser241Ile) n.785G>T c.743G>T (p.Ser248Ile) n.674G>T c.584G>T (p.Ser195Ile) n.470G>T c.389G>T (p.Ser130Ile) | COSMIC COSMIC |
| 4 | g.110618357C>G | CA357983629 | PITX2 | c.516G>C (p.Gln172His) c.641G>C (p.Ser214Thr) n.709G>C n.713G>C c.722G>C (p.Ser241Thr) n.785G>C c.743G>C (p.Ser248Thr) n.674G>C c.584G>C (p.Ser195Thr) n.470G>C c.389G>C (p.Ser130Thr) | gnomAD v4 |
| 4 | g.110618357C>T | CA357983628 | PITX2 | c.516G>A (p.Gln172=) c.641G>A (p.Ser214Asn) n.709G>A n.713G>A c.722G>A (p.Ser241Asn) n.785G>A c.743G>A (p.Ser248Asn) n.674G>A c.584G>A (p.Ser195Asn) n.470G>A c.389G>A (p.Ser130Asn) | |
| 4 | g.110618358T>A | CA104044357 | PITX2 | c.515A>T (p.Gln172Leu) c.640A>T (p.Ser214Cys) n.708A>T n.712A>T c.721A>T (p.Ser241Cys) n.784A>T c.742A>T (p.Ser248Cys) n.673A>T c.583A>T (p.Ser195Cys) n.469A>T c.388A>T (p.Ser130Cys) | dbSNP |
| 4 | g.110618358T>C | CA357983632 | PITX2 | c.515A>G (p.Gln172Arg) c.640A>G (p.Ser214Gly) n.708A>G n.712A>G c.721A>G (p.Ser241Gly) n.784A>G c.742A>G (p.Ser248Gly) n.673A>G c.583A>G (p.Ser195Gly) n.469A>G c.388A>G (p.Ser130Gly) | |
| 4 | g.110618358T>G | CA357983631 | PITX2 | c.515A>C (p.Gln172Pro) c.640A>C (p.Ser214Arg) n.708A>C n.712A>C c.721A>C (p.Ser241Arg) n.784A>C c.742A>C (p.Ser248Arg) n.673A>C c.583A>C (p.Ser195Arg) n.469A>C c.388A>C (p.Ser130Arg) | |
| 4 | g.110618358T= | CA1485097773 | PITX2 | c.515A= (p.Gln172=) c.640A= (p.Ser214=) n.708A= n.712A= c.721A= (p.Ser241=) n.784A= c.742A= (p.Ser248=) n.673A= c.583A= (p.Ser195=) n.469A= c.388A= (p.Ser130=) | |
| 4 | g.110618359G>A | CA357983633 | PITX2 | c.514C>T (p.Gln172Ter) c.639C>T (p.Asn213=) n.707C>T n.711C>T c.720C>T (p.Asn240=) n.783C>T c.741C>T (p.Asn247=) n.672C>T c.582C>T (p.Asn194=) n.468C>T c.387C>T (p.Asn129=) | dbSNP gnomAD v4 |
| 4 | g.110618359G>C | CA357983635 | PITX2 | c.514C>G (p.Gln172Glu) c.639C>G (p.Asn213Lys) n.707C>G n.711C>G c.720C>G (p.Asn240Lys) n.783C>G c.741C>G (p.Asn247Lys) n.672C>G c.582C>G (p.Asn194Lys) n.468C>G c.387C>G (p.Asn129Lys) | |
| 4 | g.110618359G= | CA1485097777 | PITX2 | c.514C= (p.Gln172=) c.639C= (p.Asn213=) n.707C= n.711C= c.720C= (p.Asn240=) n.783C= c.741C= (p.Asn247=) n.672C= c.582C= (p.Asn194=) n.468C= c.387C= (p.Asn129=) | |
| 4 | g.110618359G>T | CA357983634 | PITX2 | c.514C>A (p.Gln172Lys) c.639C>A (p.Asn213Lys) n.707C>A n.711C>A c.720C>A (p.Asn240Lys) n.783C>A c.741C>A (p.Asn247Lys) n.672C>A c.582C>A (p.Asn194Lys) n.468C>A c.387C>A (p.Asn129Lys) | |
| 4 | g.110618360T>A | CA357983636 | PITX2 | c.513A>T (p.Gln171His) c.638A>T (p.Asn213Ile) n.706A>T n.710A>T c.719A>T (p.Asn240Ile) n.782A>T c.740A>T (p.Asn247Ile) n.671A>T c.581A>T (p.Asn194Ile) n.467A>T c.386A>T (p.Asn129Ile) | |
| 4 | g.110618360T>C | CA357983637 | PITX2 | c.513A>G (p.Gln171=) c.638A>G (p.Asn213Ser) n.706A>G n.710A>G c.719A>G (p.Asn240Ser) n.782A>G c.740A>G (p.Asn247Ser) n.671A>G c.581A>G (p.Asn194Ser) n.467A>G c.386A>G (p.Asn129Ser) | gnomAD v4 COSMIC COSMIC |
| 4 | g.110618360T>G | CA357983638 | PITX2 | c.513A>C (p.Gln171His) c.638A>C (p.Asn213Thr) n.706A>C n.710A>C c.719A>C (p.Asn240Thr) n.782A>C c.740A>C (p.Asn247Thr) n.671A>C c.581A>C (p.Asn194Thr) n.467A>C c.386A>C (p.Asn129Thr) | |
| 4 | g.110618361T>A | CA357983639 | PITX2 | c.512A>T (p.Gln171Leu) c.637A>T (p.Asn213Tyr) n.705A>T n.709A>T c.718A>T (p.Asn240Tyr) n.781A>T c.739A>T (p.Asn247Tyr) n.670A>T c.580A>T (p.Asn194Tyr) n.466A>T c.385A>T (p.Asn129Tyr) | |
| 4 | g.110618361T>C | CA357983640 | PITX2 | c.512A>G (p.Gln171Arg) c.637A>G (p.Asn213Asp) n.705A>G n.709A>G c.718A>G (p.Asn240Asp) n.781A>G c.739A>G (p.Asn247Asp) n.670A>G c.580A>G (p.Asn194Asp) n.466A>G c.385A>G (p.Asn129Asp) | |
| 4 | g.110618361T>G | CA357983641 | PITX2 | c.512A>C (p.Gln171Pro) c.637A>C (p.Asn213His) n.705A>C n.709A>C c.718A>C (p.Asn240His) n.781A>C c.739A>C (p.Asn247His) n.670A>C c.580A>C (p.Asn194His) n.466A>C c.385A>C (p.Asn129His) | |
| 4 | g.110618362G>A | CA357983642 | PITX2 | c.511C>T (p.Gln171Ter) c.636C>T (p.Leu212=) n.704C>T n.708C>T c.717C>T (p.Leu239=) n.780C>T c.738C>T (p.Leu246=) n.669C>T c.579C>T (p.Leu193=) n.465C>T c.384C>T (p.Leu128=) | COSMIC COSMIC |
| 4 | g.110618362G>C | CA3045434 | PITX2 | c.511C>G (p.Gln171Glu) c.636C>G (p.Leu212=) n.704C>G n.708C>G c.717C>G (p.Leu239=) n.780C>G c.738C>G (p.Leu246=) n.669C>G c.579C>G (p.Leu193=) n.465C>G c.384C>G (p.Leu128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618362G= | CA1485097781 | PITX2 | c.511C= (p.Gln171=) c.636C= (p.Leu212=) n.704C= n.708C= c.717C= (p.Leu239=) n.780C= c.738C= (p.Leu246=) n.669C= c.579C= (p.Leu193=) n.465C= c.384C= (p.Leu128=) | |
| 4 | g.110618362G>T | CA357983643 | PITX2 | c.511C>A (p.Gln171Lys) c.636C>A (p.Leu212=) n.704C>A n.708C>A c.717C>A (p.Leu239=) n.780C>A c.738C>A (p.Leu246=) n.669C>A c.579C>A (p.Leu193=) n.465C>A c.384C>A (p.Leu128=) | |
| 4 | g.110618363A>C | CA357983644 | PITX2 | c.510T>G (p.Ser170=) c.635T>G (p.Leu212Arg) n.703T>G n.707T>G c.716T>G (p.Leu239Arg) n.779T>G c.737T>G (p.Leu246Arg) n.668T>G c.578T>G (p.Leu193Arg) n.464T>G c.383T>G (p.Leu128Arg) | |
| 4 | g.110618363A>G | CA357983645 | PITX2 | c.510T>C (p.Ser170=) c.635T>C (p.Leu212Pro) n.703T>C n.707T>C c.716T>C (p.Leu239Pro) n.779T>C c.737T>C (p.Leu246Pro) n.668T>C c.578T>C (p.Leu193Pro) n.464T>C c.383T>C (p.Leu128Pro) | |
| 4 | g.110618363A>T | CA357983646 | PITX2 | c.510T>A (p.Ser170=) c.635T>A (p.Leu212His) n.703T>A n.707T>A c.716T>A (p.Leu239His) n.779T>A c.737T>A (p.Leu246His) n.668T>A c.578T>A (p.Leu193His) n.464T>A c.383T>A (p.Leu128His) | |
| 4 | g.110618364G>A | CA357983649 | PITX2 | c.509C>T (p.Ser170Phe) c.634C>T (p.Leu212Phe) n.702C>T n.706C>T c.715C>T (p.Leu239Phe) n.778C>T c.736C>T (p.Leu246Phe) n.667C>T c.577C>T (p.Leu193Phe) n.463C>T c.382C>T (p.Leu128Phe) | |
| 4 | g.110618364G>C | CA357983647 | PITX2 | c.509C>G (p.Ser170Cys) c.634C>G (p.Leu212Val) n.702C>G n.706C>G c.715C>G (p.Leu239Val) n.778C>G c.736C>G (p.Leu246Val) n.667C>G c.577C>G (p.Leu193Val) n.463C>G c.382C>G (p.Leu128Val) | |
| 4 | g.110618364G>T | CA357983648 | PITX2 | c.509C>A (p.Ser170Tyr) c.634C>A (p.Leu212Ile) n.702C>A n.706C>A c.715C>A (p.Leu239Ile) n.778C>A c.736C>A (p.Leu246Ile) n.667C>A c.577C>A (p.Leu193Ile) n.463C>A c.382C>A (p.Leu128Ile) | |
| 4 | g.110618364_110618386delinsGACTGGAGCCCGGGACGCCTGTC | CA1485097785 | PITX2 | c.487_509delinsGACAGGCGTCCCGGGCTCCAGTC (p.Asp163=) c.612_634delinsGACAGGCGTCCCGGGCTCCAGTC (p.Val204=) n.680_702delinsGACAGGCGTCCCGGGCTCCAGTC n.684_706delinsGACAGGCGTCCCGGGCTCCAGTC c.693_715delinsGACAGGCGTCCCGGGCTCCAGTC (p.Val231=) n.756_778delinsGACAGGCGTCCCGGGCTCCAGTC c.714_736delinsGACAGGCGTCCCGGGCTCCAGTC (p.Val238=) n.645_667delinsGACAGGCGTCCCGGGCTCCAGTC c.555_577delinsGACAGGCGTCCCGGGCTCCAGTC (p.Val185=) n.441_463delinsGACAGGCGTCCCGGGCTCCAGTC c.360_382delinsGACAGGCGTCCCGGGCTCCAGTC (p.Val120=) | |
| 4 | g.110618365A= | CA1485097796 | PITX2 | c.508T= (p.Ser170=) c.633T= (p.Ser211=) n.701T= n.705T= c.714T= (p.Ser238=) n.777T= c.735T= (p.Ser245=) n.666T= c.576T= (p.Ser192=) n.462T= c.381T= (p.Ser127=) | |
| 4 | g.110618365A>C | CA357983650 | PITX2 | c.508T>G (p.Ser170Ala) c.633T>G (p.Ser211Arg) n.701T>G n.705T>G c.714T>G (p.Ser238Arg) n.777T>G c.735T>G (p.Ser245Arg) n.666T>G c.576T>G (p.Ser192Arg) n.462T>G c.381T>G (p.Ser127Arg) | |
| 4 | g.110618365A>G | CA104044360 | PITX2 | c.508T>C (p.Ser170Pro) c.633T>C (p.Ser211=) n.701T>C n.705T>C c.714T>C (p.Ser238=) n.777T>C c.735T>C (p.Ser245=) n.666T>C c.576T>C (p.Ser192=) n.462T>C c.381T>C (p.Ser127=) | dbSNP |
| 4 | g.110618365A>T | CA357983651 | PITX2 | c.508T>A (p.Ser170Thr) c.633T>A (p.Ser211Arg) n.701T>A n.705T>A c.714T>A (p.Ser238Arg) n.777T>A c.735T>A (p.Ser245Arg) n.666T>A c.576T>A (p.Ser192Arg) n.462T>A c.381T>A (p.Ser127Arg) | |
| 4 | g.110618369_110618390del | CA16044254 | PITX2 | c.487_508del (p.Asp163LeufsTer?) c.612_633del (p.Thr205SerfsTer4) n.680_701del n.684_705del c.693_714del (p.Thr232SerfsTer4) n.756_777del c.714_735del (p.Thr239SerfsTer4) n.645_666del c.555_576del (p.Thr186SerfsTer4) n.441_462del c.360_381del (p.Thr121SerfsTer4) | ClinVar dbSNP |
| 4 | g.110618366C>A | CA357983652 | PITX2 | c.507G>T (p.Gln169His) c.632G>T (p.Ser211Ile) n.700G>T n.704G>T c.713G>T (p.Ser238Ile) n.776G>T c.734G>T (p.Ser245Ile) n.665G>T c.575G>T (p.Ser192Ile) n.461G>T c.380G>T (p.Ser127Ile) | |
| 4 | g.110618366C>G | CA357983653 | PITX2 | c.507G>C (p.Gln169His) c.632G>C (p.Ser211Thr) n.700G>C n.704G>C c.713G>C (p.Ser238Thr) n.776G>C c.734G>C (p.Ser245Thr) n.665G>C c.575G>C (p.Ser192Thr) n.461G>C c.380G>C (p.Ser127Thr) | |
| 4 | g.110618366C>T | CA357983654 | PITX2 | c.507G>A (p.Gln169=) c.632G>A (p.Ser211Asn) n.700G>A n.704G>A c.713G>A (p.Ser238Asn) n.776G>A c.734G>A (p.Ser245Asn) n.665G>A c.575G>A (p.Ser192Asn) n.461G>A c.380G>A (p.Ser127Asn) | |
| 4 | g.110618367T>A | CA357983655 | PITX2 | c.506A>T (p.Gln169Leu) c.631A>T (p.Ser211Cys) n.699A>T n.703A>T c.712A>T (p.Ser238Cys) n.775A>T c.733A>T (p.Ser245Cys) n.664A>T c.574A>T (p.Ser192Cys) n.460A>T c.379A>T (p.Ser127Cys) | |
| 4 | g.110618367T>C | CA357983656 | PITX2 | c.506A>G (p.Gln169Arg) c.631A>G (p.Ser211Gly) n.699A>G n.703A>G c.712A>G (p.Ser238Gly) n.775A>G c.733A>G (p.Ser245Gly) n.664A>G c.574A>G (p.Ser192Gly) n.460A>G c.379A>G (p.Ser127Gly) | |
| 4 | g.110618367T>G | CA357983657 | PITX2 | c.506A>C (p.Gln169Pro) c.631A>C (p.Ser211Arg) n.699A>C n.703A>C c.712A>C (p.Ser238Arg) n.775A>C c.733A>C (p.Ser245Arg) n.664A>C c.574A>C (p.Ser192Arg) n.460A>C c.379A>C (p.Ser127Arg) | |
| 4 | g.110618367_110618368del | CA2695203765 | PITX2 | c.505_506del (p.Gln169ValfsTer5) c.630_631del (p.Leu212GlnfsTer5) n.698_699del n.702_703del c.711_712del (p.Leu239GlnfsTer5) n.774_775del c.732_733del (p.Leu246GlnfsTer5) n.663_664del c.573_574del (p.Leu193GlnfsTer5) n.459_460del c.378_379del (p.Leu128GlnfsTer5) | |
| 4 | g.110618368G>A | CA357983660 | PITX2 | c.505C>T (p.Gln169Ter) c.630C>T (p.Ser210=) n.698C>T n.702C>T c.711C>T (p.Ser237=) n.774C>T c.732C>T (p.Ser244=) n.663C>T c.573C>T (p.Ser191=) n.459C>T c.378C>T (p.Ser126=) | |
| 4 | g.110618368G>C | CA357983659 | PITX2 | c.505C>G (p.Gln169Glu) c.630C>G (p.Ser210=) n.698C>G n.702C>G c.711C>G (p.Ser237=) n.774C>G c.732C>G (p.Ser244=) n.663C>G c.573C>G (p.Ser191=) n.459C>G c.378C>G (p.Ser126=) | |
| 4 | g.110618368G>T | CA357983658 | PITX2 | c.505C>A (p.Gln169Lys) c.630C>A (p.Ser210=) n.698C>A n.702C>A c.711C>A (p.Ser237=) n.774C>A c.732C>A (p.Ser244=) n.663C>A c.573C>A (p.Ser191=) n.459C>A c.378C>A (p.Ser126=) | COSMIC COSMIC |
| 4 | g.110618369G>A | CA357983661 | PITX2 | c.504C>T (p.Leu168=) c.629C>T (p.Ser210Phe) n.697C>T n.701C>T c.710C>T (p.Ser237Phe) n.773C>T c.731C>T (p.Ser244Phe) n.662C>T c.572C>T (p.Ser191Phe) n.458C>T c.377C>T (p.Ser126Phe) | |
| 4 | g.110618369G>C | CA357983662 | PITX2 | c.504C>G (p.Leu168=) c.629C>G (p.Ser210Cys) n.697C>G n.701C>G c.710C>G (p.Ser237Cys) n.773C>G c.731C>G (p.Ser244Cys) n.662C>G c.572C>G (p.Ser191Cys) n.458C>G c.377C>G (p.Ser126Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618369G= | CA1485097800 | PITX2 | c.504C= (p.Leu168=) c.629C= (p.Ser210=) n.697C= n.701C= c.710C= (p.Ser237=) n.773C= c.731C= (p.Ser244=) n.662C= c.572C= (p.Ser191=) n.458C= c.377C= (p.Ser126=) | |
| 4 | g.110618369G>T | CA357983663 | PITX2 | c.504C>A (p.Leu168=) c.629C>A (p.Ser210Tyr) n.697C>A n.701C>A c.710C>A (p.Ser237Tyr) n.773C>A c.731C>A (p.Ser244Tyr) n.662C>A c.572C>A (p.Ser191Tyr) n.458C>A c.377C>A (p.Ser126Tyr) | |
| 4 | g.110618370A>C | CA357983664 | PITX2 | c.503T>G (p.Leu168Arg) c.628T>G (p.Ser210Ala) n.696T>G n.700T>G c.709T>G (p.Ser237Ala) n.772T>G c.730T>G (p.Ser244Ala) n.661T>G c.571T>G (p.Ser191Ala) n.457T>G c.376T>G (p.Ser126Ala) | |
| 4 | g.110618370A>G | CA357983665 | PITX2 | c.503T>C (p.Leu168Pro) c.628T>C (p.Ser210Pro) n.696T>C n.700T>C c.709T>C (p.Ser237Pro) n.772T>C c.730T>C (p.Ser244Pro) n.661T>C c.571T>C (p.Ser191Pro) n.457T>C c.376T>C (p.Ser126Pro) | |
| 4 | g.110618370A>T | CA357983666 | PITX2 | c.503T>A (p.Leu168His) c.628T>A (p.Ser210Thr) n.696T>A n.700T>A c.709T>A (p.Ser237Thr) n.772T>A c.730T>A (p.Ser244Thr) n.661T>A c.571T>A (p.Ser191Thr) n.457T>A c.376T>A (p.Ser126Thr) | |
| 4 | g.110618371G>A | CA3045435 | PITX2 | c.502C>T (p.Leu168Phe) c.627C>T (p.Gly209=) n.695C>T n.699C>T c.708C>T (p.Gly236=) n.771C>T c.729C>T (p.Gly243=) n.660C>T c.570C>T (p.Gly190=) n.456C>T c.375C>T (p.Gly125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618371G>C | CA357983667 | PITX2 | c.502C>G (p.Leu168Val) c.627C>G (p.Gly209=) n.695C>G n.699C>G c.708C>G (p.Gly236=) n.771C>G c.729C>G (p.Gly243=) n.660C>G c.570C>G (p.Gly190=) n.456C>G c.375C>G (p.Gly125=) | |
| 4 | g.110618371G= | CA1485097804 | PITX2 | c.502C= (p.Leu168=) c.627C= (p.Gly209=) n.695C= n.699C= c.708C= (p.Gly236=) n.771C= c.729C= (p.Gly243=) n.660C= c.570C= (p.Gly190=) n.456C= c.375C= (p.Gly125=) | |
| 4 | g.110618371G>T | CA357983668 | PITX2 | c.502C>A (p.Leu168Ile) c.627C>A (p.Gly209=) n.695C>A n.699C>A c.708C>A (p.Gly236=) n.771C>A c.729C>A (p.Gly243=) n.660C>A c.570C>A (p.Gly190=) n.456C>A c.375C>A (p.Gly125=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618372C>A | CA357983669 | PITX2 | c.501G>T (p.Gly167=) c.626G>T (p.Gly209Val) n.694G>T n.698G>T c.707G>T (p.Gly236Val) n.770G>T c.728G>T (p.Gly243Val) n.659G>T c.569G>T (p.Gly190Val) n.455G>T c.374G>T (p.Gly125Val) | |
| 4 | g.110618372C= | CA1485097807 | PITX2 | c.501G= (p.Gly167=) c.626G= (p.Gly209=) n.694G= n.698G= c.707G= (p.Gly236=) n.770G= c.728G= (p.Gly243=) n.659G= c.569G= (p.Gly190=) n.455G= c.374G= (p.Gly125=) | |
| 4 | g.110618372C>G | CA357983670 | PITX2 | c.501G>C (p.Gly167=) c.626G>C (p.Gly209Ala) n.694G>C n.698G>C c.707G>C (p.Gly236Ala) n.770G>C c.728G>C (p.Gly243Ala) n.659G>C c.569G>C (p.Gly190Ala) n.455G>C c.374G>C (p.Gly125Ala) | |
| 4 | g.110618372C>T | CA3045436 | PITX2 | c.501G>A (p.Gly167=) c.626G>A (p.Gly209Asp) n.694G>A n.698G>A c.707G>A (p.Gly236Asp) n.770G>A c.728G>A (p.Gly243Asp) n.659G>A c.569G>A (p.Gly190Asp) n.455G>A c.374G>A (p.Gly125Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618373C>A | CA357983673 | PITX2 | c.500G>T (p.Gly167Val) c.625G>T (p.Gly209Cys) n.693G>T n.697G>T c.706G>T (p.Gly236Cys) n.769G>T c.727G>T (p.Gly243Cys) n.658G>T c.568G>T (p.Gly190Cys) n.454G>T c.373G>T (p.Gly125Cys) | |
| 4 | g.110618373C>G | CA357983672 | PITX2 | c.500G>C (p.Gly167Ala) c.625G>C (p.Gly209Arg) n.693G>C n.697G>C c.706G>C (p.Gly236Arg) n.769G>C c.727G>C (p.Gly243Arg) n.658G>C c.568G>C (p.Gly190Arg) n.454G>C c.373G>C (p.Gly125Arg) | |
| 4 | g.110618373C>T | CA357983671 | PITX2 | c.500G>A (p.Gly167Glu) c.625G>A (p.Gly209Ser) n.693G>A n.697G>A c.706G>A (p.Gly236Ser) n.769G>A c.727G>A (p.Gly243Ser) n.658G>A c.568G>A (p.Gly190Ser) n.454G>A c.373G>A (p.Gly125Ser) | |
| 4 | g.110618374C>A | CA357983674 | PITX2 | c.499G>T (p.Gly167Trp) c.624G>T (p.Pro208=) n.692G>T n.696G>T c.705G>T (p.Pro235=) n.768G>T c.726G>T (p.Pro242=) n.657G>T c.567G>T (p.Pro189=) n.453G>T c.372G>T (p.Pro124=) | |
| 4 | g.110618374C= | CA1485097809 | PITX2 | c.499G= (p.Gly167=) c.624G= (p.Pro208=) n.692G= n.696G= c.705G= (p.Pro235=) n.768G= c.726G= (p.Pro242=) n.657G= c.567G= (p.Pro189=) n.453G= c.372G= (p.Pro124=) | |
| 4 | g.110618374C>G | CA357983675 | PITX2 | c.499G>C (p.Gly167Arg) c.624G>C (p.Pro208=) n.692G>C n.696G>C c.705G>C (p.Pro235=) n.768G>C c.726G>C (p.Pro242=) n.657G>C c.567G>C (p.Pro189=) n.453G>C c.372G>C (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618374C>T | CA357983676 | PITX2 | c.499G>A (p.Gly167Arg) c.624G>A (p.Pro208=) n.692G>A n.696G>A c.705G>A (p.Pro235=) n.768G>A c.726G>A (p.Pro242=) n.657G>A c.567G>A (p.Pro189=) n.453G>A c.372G>A (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618375G>A | CA357983677 | PITX2 | c.498C>T (p.Pro166=) c.623C>T (p.Pro208Leu) n.691C>T n.695C>T c.704C>T (p.Pro235Leu) n.767C>T c.725C>T (p.Pro242Leu) n.656C>T c.566C>T (p.Pro189Leu) n.452C>T c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618375G>C | CA357983678 | PITX2 | c.498C>G (p.Pro166=) c.623C>G (p.Pro208Arg) n.691C>G n.695C>G c.704C>G (p.Pro235Arg) n.767C>G c.725C>G (p.Pro242Arg) n.656C>G c.566C>G (p.Pro189Arg) n.452C>G c.371C>G (p.Pro124Arg) | |
| 4 | g.110618375G= | CA1485097813 | PITX2 | c.498C= (p.Pro166=) c.623C= (p.Pro208=) n.691C= n.695C= c.704C= (p.Pro235=) n.767C= c.725C= (p.Pro242=) n.656C= c.566C= (p.Pro189=) n.452C= c.371C= (p.Pro124=) | |
| 4 | g.110618375G>T | CA357983679 | PITX2 | c.498C>A (p.Pro166=) c.623C>A (p.Pro208Gln) n.691C>A n.695C>A c.704C>A (p.Pro235Gln) n.767C>A c.725C>A (p.Pro242Gln) n.656C>A c.566C>A (p.Pro189Gln) n.452C>A c.371C>A (p.Pro124Gln) | |
| 4 | g.110618376_110618377del | CA2706792168 | PITX2 | c.497_498del (p.Pro166ArgfsTer8) c.622_623del (p.Pro208GlyfsTer9) n.690_691del n.694_695del c.703_704del (p.Pro235GlyfsTer9) n.766_767del c.724_725del (p.Pro242GlyfsTer9) n.655_656del c.565_566del (p.Pro189GlyfsTer9) n.451_452del c.370_371del (p.Pro124GlyfsTer9) | dbSNP |
| 4 | g.110618376G>A | CA357983680 | PITX2 | c.497C>T (p.Pro166Leu) c.622C>T (p.Pro208Ser) n.690C>T n.694C>T c.703C>T (p.Pro235Ser) n.766C>T c.724C>T (p.Pro242Ser) n.655C>T c.565C>T (p.Pro189Ser) n.451C>T c.370C>T (p.Pro124Ser) | |
| 4 | g.110618376G>C | CA357983681 | PITX2 | c.497C>G (p.Pro166Arg) c.622C>G (p.Pro208Ala) n.690C>G n.694C>G c.703C>G (p.Pro235Ala) n.766C>G c.724C>G (p.Pro242Ala) n.655C>G c.565C>G (p.Pro189Ala) n.451C>G c.370C>G (p.Pro124Ala) | |
| 4 | g.110618376G= | CA1485097817 | PITX2 | c.497C= (p.Pro166=) c.622C= (p.Pro208=) n.690C= n.694C= c.703C= (p.Pro235=) n.766C= c.724C= (p.Pro242=) n.655C= c.565C= (p.Pro189=) n.451C= c.370C= (p.Pro124=) | |
| 4 | g.110618376G>T | CA357983682 | PITX2 | c.497C>A (p.Pro166His) c.622C>A (p.Pro208Thr) n.690C>A n.694C>A c.703C>A (p.Pro235Thr) n.766C>A c.724C>A (p.Pro242Thr) n.655C>A c.565C>A (p.Pro189Thr) n.451C>A c.370C>A (p.Pro124Thr) | dbSNP |
| 4 | g.110618377G>A | CA357983683 | PITX2 | c.496C>T (p.Pro166Ser) c.621C>T (p.Val207=) n.689C>T n.693C>T c.702C>T (p.Val234=) n.765C>T c.723C>T (p.Val241=) n.654C>T c.564C>T (p.Val188=) n.450C>T c.369C>T (p.Val123=) | |
| 4 | g.110618377G>C | CA357983684 | PITX2 | c.496C>G (p.Pro166Ala) c.621C>G (p.Val207=) n.689C>G n.693C>G c.702C>G (p.Val234=) n.765C>G c.723C>G (p.Val241=) n.654C>G c.564C>G (p.Val188=) n.450C>G c.369C>G (p.Val123=) | |
| 4 | g.110618377G>T | CA357983685 | PITX2 | c.496C>A (p.Pro166Thr) c.621C>A (p.Val207=) n.689C>A n.693C>A c.702C>A (p.Val234=) n.765C>A c.723C>A (p.Val241=) n.654C>A c.564C>A (p.Val188=) n.450C>A c.369C>A (p.Val123=) | |
| 4 | g.110618378A>C | CA357983688 | PITX2 | c.495T>G (p.Arg165=) c.620T>G (p.Val207Gly) n.688T>G n.692T>G c.701T>G (p.Val234Gly) n.764T>G c.722T>G (p.Val241Gly) n.653T>G c.563T>G (p.Val188Gly) n.449T>G c.368T>G (p.Val123Gly) | |
| 4 | g.110618378A>G | CA357983687 | PITX2 | c.495T>C (p.Arg165=) c.620T>C (p.Val207Ala) n.688T>C n.692T>C c.701T>C (p.Val234Ala) n.764T>C c.722T>C (p.Val241Ala) n.653T>C c.563T>C (p.Val188Ala) n.449T>C c.368T>C (p.Val123Ala) | |
| 4 | g.110618378A>T | CA357983686 | PITX2 | c.495T>A (p.Arg165=) c.620T>A (p.Val207Asp) n.688T>A n.692T>A c.701T>A (p.Val234Asp) n.764T>A c.722T>A (p.Val241Asp) n.653T>A c.563T>A (p.Val188Asp) n.449T>A c.368T>A (p.Val123Asp) | |
| 4 | g.110618379C>A | CA357983689 | PITX2 | c.494G>T (p.Arg165Leu) c.619G>T (p.Val207Phe) n.687G>T n.691G>T c.700G>T (p.Val234Phe) n.763G>T c.721G>T (p.Val241Phe) n.652G>T c.562G>T (p.Val188Phe) n.448G>T c.367G>T (p.Val123Phe) | |
| 4 | g.110618379C= | CA1485097820 | PITX2 | c.494G= (p.Arg165=) c.619G= (p.Val207=) n.687G= n.691G= c.700G= (p.Val234=) n.763G= c.721G= (p.Val241=) n.652G= c.562G= (p.Val188=) n.448G= c.367G= (p.Val123=) | |
| 4 | g.110618379C>G | CA357983690 | PITX2 | c.494G>C (p.Arg165Pro) c.619G>C (p.Val207Leu) n.687G>C n.691G>C c.700G>C (p.Val234Leu) n.763G>C c.721G>C (p.Val241Leu) n.652G>C c.562G>C (p.Val188Leu) n.448G>C c.367G>C (p.Val123Leu) | |
| 4 | g.110618379C>T | CA3045437 | PITX2 | c.494G>A (p.Arg165His) c.619G>A (p.Val207Ile) n.687G>A n.691G>A c.700G>A (p.Val234Ile) n.763G>A c.721G>A (p.Val241Ile) n.652G>A c.562G>A (p.Val188Ile) n.448G>A c.367G>A (p.Val123Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618380G>A | CA3045438 | PITX2 | c.493C>T (p.Arg165Cys) c.618C>T (p.Gly206=) n.686C>T n.690C>T c.699C>T (p.Gly233=) n.762C>T c.720C>T (p.Gly240=) n.651C>T c.561C>T (p.Gly187=) n.447C>T c.366C>T (p.Gly122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618380G>C | CA357983691 | PITX2 | c.493C>G (p.Arg165Gly) c.618C>G (p.Gly206=) n.686C>G n.690C>G c.699C>G (p.Gly233=) n.762C>G c.720C>G (p.Gly240=) n.651C>G c.561C>G (p.Gly187=) n.447C>G c.366C>G (p.Gly122=) | |
| 4 | g.110618380G= | CA1485097823 | PITX2 | c.493C= (p.Arg165=) c.618C= (p.Gly206=) n.686C= n.690C= c.699C= (p.Gly233=) n.762C= c.720C= (p.Gly240=) n.651C= c.561C= (p.Gly187=) n.447C= c.366C= (p.Gly122=) | |
| 4 | g.110618380G>T | CA357983692 | PITX2 | c.493C>A (p.Arg165Ser) c.618C>A (p.Gly206=) n.686C>A n.690C>A c.699C>A (p.Gly233=) n.762C>A c.720C>A (p.Gly240=) n.651C>A c.561C>A (p.Gly187=) n.447C>A c.366C>A (p.Gly122=) | gnomAD v4 |
| 4 | g.110618381C>A | CA357983693 | PITX2 | c.492G>T (p.Arg164Ser) c.617G>T (p.Gly206Val) n.685G>T n.689G>T c.698G>T (p.Gly233Val) n.761G>T c.719G>T (p.Gly240Val) n.650G>T c.560G>T (p.Gly187Val) n.446G>T c.365G>T (p.Gly122Val) | |
| 4 | g.110618381C>G | CA357983694 | PITX2 | c.492G>C (p.Arg164Ser) c.617G>C (p.Gly206Ala) n.685G>C n.689G>C c.698G>C (p.Gly233Ala) n.761G>C c.719G>C (p.Gly240Ala) n.650G>C c.560G>C (p.Gly187Ala) n.446G>C c.365G>C (p.Gly122Ala) | |
| 4 | g.110618381C>T | CA357983695 | PITX2 | c.492G>A (p.Arg164=) c.617G>A (p.Gly206Asp) n.685G>A n.689G>A c.698G>A (p.Gly233Asp) n.761G>A c.719G>A (p.Gly240Asp) n.650G>A c.560G>A (p.Gly187Asp) n.446G>A c.365G>A (p.Gly122Asp) | |
| 4 | g.110618382C>A | CA357983696 | PITX2 | c.491G>T (p.Arg164Met) c.616G>T (p.Gly206Cys) n.684G>T n.688G>T c.697G>T (p.Gly233Cys) n.760G>T c.718G>T (p.Gly240Cys) n.649G>T c.559G>T (p.Gly187Cys) n.445G>T c.364G>T (p.Gly122Cys) | |
| 4 | g.110618382C>G | CA357983697 | PITX2 | c.491G>C (p.Arg164Thr) c.616G>C (p.Gly206Arg) n.684G>C n.688G>C c.697G>C (p.Gly233Arg) n.760G>C c.718G>C (p.Gly240Arg) n.649G>C c.559G>C (p.Gly187Arg) n.445G>C c.364G>C (p.Gly122Arg) | |
| 4 | g.110618382C>T | CA357983698 | PITX2 | c.491G>A (p.Arg164Lys) c.616G>A (p.Gly206Ser) n.684G>A n.688G>A c.697G>A (p.Gly233Ser) n.760G>A c.718G>A (p.Gly240Ser) n.649G>A c.559G>A (p.Gly187Ser) n.445G>A c.364G>A (p.Gly122Ser) | |
| 4 | g.110618383T>A | CA357983699 | PITX2 | c.490A>T (p.Arg164Trp) c.615A>T (p.Thr205=) n.683A>T n.687A>T c.696A>T (p.Thr232=) n.759A>T c.717A>T (p.Thr239=) n.648A>T c.558A>T (p.Thr186=) n.444A>T c.363A>T (p.Thr121=) | |
| 4 | g.110618383T>C | CA104044365 | PITX2 | c.490A>G (p.Arg164Gly) c.615A>G (p.Thr205=) n.683A>G n.687A>G c.696A>G (p.Thr232=) n.759A>G c.717A>G (p.Thr239=) n.648A>G c.558A>G (p.Thr186=) n.444A>G c.363A>G (p.Thr121=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618383T>G | CA440822299 | PITX2 | c.490A>C (p.Arg164=) c.615A>C (p.Thr205=) n.683A>C n.687A>C c.696A>C (p.Thr232=) n.759A>C c.717A>C (p.Thr239=) n.648A>C c.558A>C (p.Thr186=) n.444A>C c.363A>C (p.Thr121=) | |
| 4 | g.110618383T= | CA1485097827 | PITX2 | c.490A= (p.Arg164=) c.615A= (p.Thr205=) n.683A= n.687A= c.696A= (p.Thr232=) n.759A= c.717A= (p.Thr239=) n.648A= c.558A= (p.Thr186=) n.444A= c.363A= (p.Thr121=) | |
| 4 | g.110618384G>A | CA357983702 | PITX2 | c.489C>T (p.Asp163=) c.614C>T (p.Thr205Ile) n.682C>T n.686C>T c.695C>T (p.Thr232Ile) n.758C>T c.716C>T (p.Thr239Ile) n.647C>T c.557C>T (p.Thr186Ile) n.443C>T c.362C>T (p.Thr121Ile) | |
| 4 | g.110618384G>C | CA357983701 | PITX2 | c.489C>G (p.Asp163Glu) c.614C>G (p.Thr205Arg) n.682C>G n.686C>G c.695C>G (p.Thr232Arg) n.758C>G c.716C>G (p.Thr239Arg) n.647C>G c.557C>G (p.Thr186Arg) n.443C>G c.362C>G (p.Thr121Arg) | |
| 4 | g.110618384G>T | CA357983700 | PITX2 | c.489C>A (p.Asp163Glu) c.614C>A (p.Thr205Lys) n.682C>A n.686C>A c.695C>A (p.Thr232Lys) n.758C>A c.716C>A (p.Thr239Lys) n.647C>A c.557C>A (p.Thr186Lys) n.443C>A c.362C>A (p.Thr121Lys) | |
| 4 | g.110618384_110618400dup | CA2573138004 | PITX2 | c.473_489dup (p.Arg164ValfsTer?) c.598_614dup (p.Gly206CysfsTer5) n.666_682dup n.670_686dup c.679_695dup (p.Gly233CysfsTer5) n.742_758dup c.700_716dup (p.Gly240CysfsTer5) n.631_647dup c.541_557dup (p.Gly187CysfsTer5) n.427_443dup c.346_362dup (p.Gly122CysfsTer5) | ClinVar dbSNP |
| 4 | g.110618385T>A | CA357983703 | PITX2 | c.488A>T (p.Asp163Val) c.613A>T (p.Thr205Ser) n.681A>T n.685A>T c.694A>T (p.Thr232Ser) n.757A>T c.715A>T (p.Thr239Ser) n.646A>T c.556A>T (p.Thr186Ser) n.442A>T c.361A>T (p.Thr121Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618385T>C | CA357983704 | PITX2 | c.488A>G (p.Asp163Gly) c.613A>G (p.Thr205Ala) n.681A>G n.685A>G c.694A>G (p.Thr232Ala) n.757A>G c.715A>G (p.Thr239Ala) n.646A>G c.556A>G (p.Thr186Ala) n.442A>G c.361A>G (p.Thr121Ala) | |
| 4 | g.110618385T>G | CA357983705 | PITX2 | c.488A>C (p.Asp163Ala) c.613A>C (p.Thr205Pro) n.681A>C n.685A>C c.694A>C (p.Thr232Pro) n.757A>C c.715A>C (p.Thr239Pro) n.646A>C c.556A>C (p.Thr186Pro) n.442A>C c.361A>C (p.Thr121Pro) | |
| 4 | g.110618385T= | CA1485097830 | PITX2 | c.488A= (p.Asp163=) c.613A= (p.Thr205=) n.681A= n.685A= c.694A= (p.Thr232=) n.757A= c.715A= (p.Thr239=) n.646A= c.556A= (p.Thr186=) n.442A= c.361A= (p.Thr121=) | |
| 4 | g.110618386C>A | CA357983706 | PITX2 | c.487G>T (p.Asp163Tyr) c.612G>T (p.Val204=) n.680G>T n.684G>T c.693G>T (p.Val231=) n.756G>T c.714G>T (p.Val238=) n.645G>T c.555G>T (p.Val185=) n.441G>T c.360G>T (p.Val120=) | |
| 4 | g.110618386C>G | CA357983707 | PITX2 | c.487G>C (p.Asp163His) c.612G>C (p.Val204=) n.680G>C n.684G>C c.693G>C (p.Val231=) n.756G>C c.714G>C (p.Val238=) n.645G>C c.555G>C (p.Val185=) n.441G>C c.360G>C (p.Val120=) | |
| 4 | g.110618386C>T | CA357983708 | PITX2 | c.487G>A (p.Asp163Asn) c.612G>A (p.Val204=) n.680G>A n.684G>A c.693G>A (p.Val231=) n.756G>A c.714G>A (p.Val238=) n.645G>A c.555G>A (p.Val185=) n.441G>A c.360G>A (p.Val120=) | |
| 4 | g.110618387A>C | CA357983709 | PITX2 | c.486T>G (p.Ser162Arg) c.611T>G (p.Val204Gly) n.679T>G n.683T>G c.692T>G (p.Val231Gly) n.755T>G c.713T>G (p.Val238Gly) n.644T>G c.554T>G (p.Val185Gly) n.440T>G c.359T>G (p.Val120Gly) | |
| 4 | g.110618387A>G | CA357983710 | PITX2 | c.486T>C (p.Ser162=) c.611T>C (p.Val204Ala) n.679T>C n.683T>C c.692T>C (p.Val231Ala) n.755T>C c.713T>C (p.Val238Ala) n.644T>C c.554T>C (p.Val185Ala) n.440T>C c.359T>C (p.Val120Ala) | |
| 4 | g.110618387A>T | CA357983711 | PITX2 | c.486T>A (p.Ser162Arg) c.611T>A (p.Val204Glu) n.679T>A n.683T>A c.692T>A (p.Val231Glu) n.755T>A c.713T>A (p.Val238Glu) n.644T>A c.554T>A (p.Val185Glu) n.440T>A c.359T>A (p.Val120Glu) | |
| 4 | g.110618388C>A | CA357983712 | PITX2 | c.485G>T (p.Ser162Ile) c.610G>T (p.Val204Leu) n.678G>T n.682G>T c.691G>T (p.Val231Leu) n.754G>T c.712G>T (p.Val238Leu) n.643G>T c.553G>T (p.Val185Leu) n.439G>T c.358G>T (p.Val120Leu) | |
| 4 | g.110618388C>G | CA357983713 | PITX2 | c.485G>C (p.Ser162Thr) c.610G>C (p.Val204Leu) n.678G>C n.682G>C c.691G>C (p.Val231Leu) n.754G>C c.712G>C (p.Val238Leu) n.643G>C c.553G>C (p.Val185Leu) n.439G>C c.358G>C (p.Val120Leu) | |
| 4 | g.110618388C>T | CA357983714 | PITX2 | c.485G>A (p.Ser162Asn) c.610G>A (p.Val204Met) n.678G>A n.682G>A c.691G>A (p.Val231Met) n.754G>A c.712G>A (p.Val238Met) n.643G>A c.553G>A (p.Val185Met) n.439G>A c.358G>A (p.Val120Met) | gnomAD v4 |
| 4 | g.110618389T>A | CA357983717 | PITX2 | c.484A>T (p.Ser162Cys) c.609A>T (p.Ala203=) n.677A>T n.681A>T c.690A>T (p.Ala230=) n.753A>T c.711A>T (p.Ala237=) n.642A>T c.552A>T (p.Ala184=) n.438A>T c.357A>T (p.Ala119=) | |
| 4 | g.110618389T>C | CA357983716 | PITX2 | c.484A>G (p.Ser162Gly) c.609A>G (p.Ala203=) n.677A>G n.681A>G c.690A>G (p.Ala230=) n.753A>G c.711A>G (p.Ala237=) n.642A>G c.552A>G (p.Ala184=) n.438A>G c.357A>G (p.Ala119=) | |
| 4 | g.110618389T>G | CA357983715 | PITX2 | c.484A>C (p.Ser162Arg) c.609A>C (p.Ala203=) n.677A>C n.681A>C c.690A>C (p.Ala230=) n.753A>C c.711A>C (p.Ala237=) n.642A>C c.552A>C (p.Ala184=) n.438A>C c.357A>C (p.Ala119=) | |
| 4 | g.110618390G>A | CA357983718 | PITX2 | c.483C>T (p.Ser161=) c.608C>T (p.Ala203Val) n.676C>T n.680C>T c.689C>T (p.Ala230Val) n.752C>T c.710C>T (p.Ala237Val) n.641C>T c.551C>T (p.Ala184Val) n.437C>T c.356C>T (p.Ala119Val) | |
| 4 | g.110618390G>C | CA357983719 | PITX2 | c.483C>G (p.Ser161Arg) c.608C>G (p.Ala203Gly) n.676C>G n.680C>G c.689C>G (p.Ala230Gly) n.752C>G c.710C>G (p.Ala237Gly) n.641C>G c.551C>G (p.Ala184Gly) n.437C>G c.356C>G (p.Ala119Gly) | |
| 4 | g.110618390G>T | CA357983720 | PITX2 | c.483C>A (p.Ser161Arg) c.608C>A (p.Ala203Glu) n.676C>A n.680C>A c.689C>A (p.Ala230Glu) n.752C>A c.710C>A (p.Ala237Glu) n.641C>A c.551C>A (p.Ala184Glu) n.437C>A c.356C>A (p.Ala119Glu) | |
| 4 | g.110618390_110618402del | CA2695203766 | PITX2 | c.471_483del (p.His157GlnfsTer?) c.596_608del (p.Met199LysfsTer2) n.664_676del n.668_680del c.677_689del (p.Met226LysfsTer2) n.740_752del c.698_710del (p.Met233LysfsTer2) n.629_641del c.539_551del (p.Met180LysfsTer2) n.425_437del c.344_356del (p.Met115LysfsTer2) | |
| 4 | g.110618391C>A | CA357983721 | PITX2 | c.482G>T (p.Ser161Ile) c.607G>T (p.Ala203Ser) n.675G>T n.679G>T c.688G>T (p.Ala230Ser) n.751G>T c.709G>T (p.Ala237Ser) n.640G>T c.550G>T (p.Ala184Ser) n.436G>T c.355G>T (p.Ala119Ser) | |
| 4 | g.110618391C>G | CA357983722 | PITX2 | c.482G>C (p.Ser161Thr) c.607G>C (p.Ala203Pro) n.675G>C n.679G>C c.688G>C (p.Ala230Pro) n.751G>C c.709G>C (p.Ala237Pro) n.640G>C c.550G>C (p.Ala184Pro) n.436G>C c.355G>C (p.Ala119Pro) | |
| 4 | g.110618391C>T | CA357983723 | PITX2 | c.482G>A (p.Ser161Asn) c.607G>A (p.Ala203Thr) n.675G>A n.679G>A c.688G>A (p.Ala230Thr) n.751G>A c.709G>A (p.Ala237Thr) n.640G>A c.550G>A (p.Ala184Thr) n.436G>A c.355G>A (p.Ala119Thr) | |
| 4 | g.110618392T>A | CA357983724 | PITX2 | c.481A>T (p.Ser161Cys) c.606A>T (p.Ser202=) n.674A>T n.678A>T c.687A>T (p.Ser229=) n.750A>T c.708A>T (p.Ser236=) n.639A>T c.549A>T (p.Ser183=) n.435A>T c.354A>T (p.Ser118=) | |
| 4 | g.110618392T>C | CA357983725 | PITX2 | c.481A>G (p.Ser161Gly) c.606A>G (p.Ser202=) n.674A>G n.678A>G c.687A>G (p.Ser229=) n.750A>G c.708A>G (p.Ser236=) n.639A>G c.549A>G (p.Ser183=) n.435A>G c.354A>G (p.Ser118=) | |
| 4 | g.110618392T>G | CA357983726 | PITX2 | c.481A>C (p.Ser161Arg) c.606A>C (p.Ser202=) n.674A>C n.678A>C c.687A>C (p.Ser229=) n.750A>C c.708A>C (p.Ser236=) n.639A>C c.549A>C (p.Ser183=) n.435A>C c.354A>C (p.Ser118=) | |
| 4 | g.110618393G>A | CA357983727 | PITX2 | c.480C>T (p.Leu160=) c.605C>T (p.Ser202Leu) n.673C>T n.677C>T c.686C>T (p.Ser229Leu) n.749C>T c.707C>T (p.Ser236Leu) n.638C>T c.548C>T (p.Ser183Leu) n.434C>T c.353C>T (p.Ser118Leu) | |
| 4 | g.110618393G>C | CA357983728 | PITX2 | c.480C>G (p.Leu160=) c.605C>G (p.Ser202Ter) n.673C>G n.677C>G c.686C>G (p.Ser229Ter) n.749C>G c.707C>G (p.Ser236Ter) n.638C>G c.548C>G (p.Ser183Ter) n.434C>G c.353C>G (p.Ser118Ter) | |
| 4 | g.110618393G>T | CA357983729 | PITX2 | c.480C>A (p.Leu160=) c.605C>A (p.Ser202Ter) n.673C>A n.677C>A c.686C>A (p.Ser229Ter) n.749C>A c.707C>A (p.Ser236Ter) n.638C>A c.548C>A (p.Ser183Ter) n.434C>A c.353C>A (p.Ser118Ter) | |
| 4 | g.110618394A>C | CA357983732 | PITX2 | c.479T>G (p.Leu160Arg) c.604T>G (p.Ser202Ala) n.672T>G n.676T>G c.685T>G (p.Ser229Ala) n.748T>G c.706T>G (p.Ser236Ala) n.637T>G c.547T>G (p.Ser183Ala) n.433T>G c.352T>G (p.Ser118Ala) | |
| 4 | g.110618394A>G | CA357983731 | PITX2 | c.479T>C (p.Leu160Pro) c.604T>C (p.Ser202Pro) n.672T>C n.676T>C c.685T>C (p.Ser229Pro) n.748T>C c.706T>C (p.Ser236Pro) n.637T>C c.547T>C (p.Ser183Pro) n.433T>C c.352T>C (p.Ser118Pro) | |
| 4 | g.110618394A>T | CA357983730 | PITX2 | c.479T>A (p.Leu160His) c.604T>A (p.Ser202Thr) n.672T>A n.676T>A c.685T>A (p.Ser229Thr) n.748T>A c.706T>A (p.Ser236Thr) n.637T>A c.547T>A (p.Ser183Thr) n.433T>A c.352T>A (p.Ser118Thr) | |
| 4 | g.110618395G>A | CA357983733 | PITX2 | c.478C>T (p.Leu160Phe) c.603C>T (p.Pro201=) n.671C>T n.675C>T c.684C>T (p.Pro228=) n.747C>T c.705C>T (p.Pro235=) n.636C>T c.546C>T (p.Pro182=) n.432C>T c.351C>T (p.Pro117=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618395G>C | CA357983734 | PITX2 | c.478C>G (p.Leu160Val) c.603C>G (p.Pro201=) n.671C>G n.675C>G c.684C>G (p.Pro228=) n.747C>G c.705C>G (p.Pro235=) n.636C>G c.546C>G (p.Pro182=) n.432C>G c.351C>G (p.Pro117=) | |
| 4 | g.110618395G= | CA1485097832 | PITX2 | c.478C= (p.Leu160=) c.603C= (p.Pro201=) n.671C= n.675C= c.684C= (p.Pro228=) n.747C= c.705C= (p.Pro235=) n.636C= c.546C= (p.Pro182=) n.432C= c.351C= (p.Pro117=) | |
| 4 | g.110618395G>T | CA357983735 | PITX2 | c.478C>A (p.Leu160Ile) c.603C>A (p.Pro201=) n.671C>A n.675C>A c.684C>A (p.Pro228=) n.747C>A c.705C>A (p.Pro235=) n.636C>A c.546C>A (p.Pro182=) n.432C>A c.351C>A (p.Pro117=) | |
| 4 | g.110618396G>A | CA357983736 | PITX2 | c.477C>T (p.Ala159=) c.602C>T (p.Pro201Leu) n.670C>T n.674C>T c.683C>T (p.Pro228Leu) n.746C>T c.704C>T (p.Pro235Leu) n.635C>T c.545C>T (p.Pro182Leu) n.431C>T c.350C>T (p.Pro117Leu) | |
| 4 | g.110618396G>C | CA357983737 | PITX2 | c.477C>G (p.Ala159=) c.602C>G (p.Pro201Arg) n.670C>G n.674C>G c.683C>G (p.Pro228Arg) n.746C>G c.704C>G (p.Pro235Arg) n.635C>G c.545C>G (p.Pro182Arg) n.431C>G c.350C>G (p.Pro117Arg) | |
| 4 | g.110618396G>T | CA357983738 | PITX2 | c.477C>A (p.Ala159=) c.602C>A (p.Pro201His) n.670C>A n.674C>A c.683C>A (p.Pro228His) n.746C>A c.704C>A (p.Pro235His) n.635C>A c.545C>A (p.Pro182His) n.431C>A c.350C>A (p.Pro117His) | |
| 4 | g.110618397G>A | CA357983739 | PITX2 | c.476C>T (p.Ala159Val) c.601C>T (p.Pro201Ser) n.669C>T n.673C>T c.682C>T (p.Pro228Ser) n.745C>T c.703C>T (p.Pro235Ser) n.634C>T c.544C>T (p.Pro182Ser) n.430C>T c.349C>T (p.Pro117Ser) | |
| 4 | g.110618397G>C | CA357983740 | PITX2 | c.476C>G (p.Ala159Gly) c.601C>G (p.Pro201Ala) n.669C>G n.673C>G c.682C>G (p.Pro228Ala) n.745C>G c.703C>G (p.Pro235Ala) n.634C>G c.544C>G (p.Pro182Ala) n.430C>G c.349C>G (p.Pro117Ala) | |
| 4 | g.110618397G>T | CA357983741 | PITX2 | c.476C>A (p.Ala159Asp) c.601C>A (p.Pro201Thr) n.669C>A n.673C>A c.682C>A (p.Pro228Thr) n.745C>A c.703C>A (p.Pro235Thr) n.634C>A c.544C>A (p.Pro182Thr) n.430C>A c.349C>A (p.Pro117Thr) | |
| 4 | g.110618398C>A | CA357983742 | PITX2 | c.475G>T (p.Ala159Ser) c.600G>T (p.Val200=) n.668G>T n.672G>T c.681G>T (p.Val227=) n.744G>T c.702G>T (p.Val234=) n.633G>T c.543G>T (p.Val181=) n.429G>T c.348G>T (p.Val116=) | |
| 4 | g.110618398C= | CA1485097836 | PITX2 | c.475G= (p.Ala159=) c.600G= (p.Val200=) n.668G= n.672G= c.681G= (p.Val227=) n.744G= c.702G= (p.Val234=) n.633G= c.543G= (p.Val181=) n.429G= c.348G= (p.Val116=) | |
| 4 | g.110618398C>G | CA357983743 | PITX2 | c.475G>C (p.Ala159Pro) c.600G>C (p.Val200=) n.668G>C n.672G>C c.681G>C (p.Val227=) n.744G>C c.702G>C (p.Val234=) n.633G>C c.543G>C (p.Val181=) n.429G>C c.348G>C (p.Val116=) | |
| 4 | g.110618398C>T | CA357983744 | PITX2 | c.475G>A (p.Ala159Thr) c.600G>A (p.Val200=) n.668G>A n.672G>A c.681G>A (p.Val227=) n.744G>A c.702G>A (p.Val234=) n.633G>A c.543G>A (p.Val181=) n.429G>A c.348G>A (p.Val116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618399A>C | CA357983747 | PITX2 | c.474T>G (p.Gly158=) c.599T>G (p.Val200Gly) n.667T>G n.671T>G c.680T>G (p.Val227Gly) n.743T>G c.701T>G (p.Val234Gly) n.632T>G c.542T>G (p.Val181Gly) n.428T>G c.347T>G (p.Val116Gly) | |
| 4 | g.110618399A>G | CA357983746 | PITX2 | c.474T>C (p.Gly158=) c.599T>C (p.Val200Ala) n.667T>C n.671T>C c.680T>C (p.Val227Ala) n.743T>C c.701T>C (p.Val234Ala) n.632T>C c.542T>C (p.Val181Ala) n.428T>C c.347T>C (p.Val116Ala) | |
| 4 | g.110618399A>T | CA357983745 | PITX2 | c.474T>A (p.Gly158=) c.599T>A (p.Val200Glu) n.667T>A n.671T>A c.680T>A (p.Val227Glu) n.743T>A c.701T>A (p.Val234Glu) n.632T>A c.542T>A (p.Val181Glu) n.428T>A c.347T>A (p.Val116Glu) | |
| 4 | g.110618400C>A | CA357983748 | PITX2 | c.473G>T (p.Gly158Val) c.598G>T (p.Val200Leu) n.666G>T n.670G>T c.679G>T (p.Val227Leu) n.742G>T c.700G>T (p.Val234Leu) n.631G>T c.541G>T (p.Val181Leu) n.427G>T c.346G>T (p.Val116Leu) | |
| 4 | g.110618400C= | CA1485097838 | PITX2 | c.473G= (p.Gly158=) c.598G= (p.Val200=) n.666G= n.670G= c.679G= (p.Val227=) n.742G= c.700G= (p.Val234=) n.631G= c.541G= (p.Val181=) n.427G= c.346G= (p.Val116=) | |
| 4 | g.110618400C>G | CA357983750 | PITX2 | c.473G>C (p.Gly158Ala) c.598G>C (p.Val200Leu) n.666G>C n.670G>C c.679G>C (p.Val227Leu) n.742G>C c.700G>C (p.Val234Leu) n.631G>C c.541G>C (p.Val181Leu) n.427G>C c.346G>C (p.Val116Leu) | |
| 4 | g.110618400C>T | CA357983749 | PITX2 | c.473G>A (p.Gly158Asp) c.598G>A (p.Val200Met) n.666G>A n.670G>A c.679G>A (p.Val227Met) n.742G>A c.700G>A (p.Val234Met) n.631G>A c.541G>A (p.Val181Met) n.427G>A c.346G>A (p.Val116Met) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618401C>A | CA357983751 | PITX2 | c.472G>T (p.Gly158Cys) c.597G>T (p.Met199Ile) n.665G>T n.669G>T c.678G>T (p.Met226Ile) n.741G>T c.699G>T (p.Met233Ile) n.630G>T c.540G>T (p.Met180Ile) n.426G>T c.345G>T (p.Met115Ile) | dbSNP gnomAD v4 |
| 4 | g.110618401C= | CA1485097842 | PITX2 | c.472G= (p.Gly158=) c.597G= (p.Met199=) n.665G= n.669G= c.678G= (p.Met226=) n.741G= c.699G= (p.Met233=) n.630G= c.540G= (p.Met180=) n.426G= c.345G= (p.Met115=) | |
| 4 | g.110618401C>G | CA357983752 | PITX2 | c.472G>C (p.Gly158Arg) c.597G>C (p.Met199Ile) n.665G>C n.669G>C c.678G>C (p.Met226Ile) n.741G>C c.699G>C (p.Met233Ile) n.630G>C c.540G>C (p.Met180Ile) n.426G>C c.345G>C (p.Met115Ile) | |
| 4 | g.110618401C>T | CA357983753 | PITX2 | c.472G>A (p.Gly158Ser) c.597G>A (p.Met199Ile) n.665G>A n.669G>A c.678G>A (p.Met226Ile) n.741G>A c.699G>A (p.Met233Ile) n.630G>A c.540G>A (p.Met180Ile) n.426G>A c.345G>A (p.Met115Ile) | |
| 4 | g.110618402A>C | CA357983754 | PITX2 | c.471T>G (p.His157Gln) c.596T>G (p.Met199Arg) n.664T>G n.668T>G c.677T>G (p.Met226Arg) n.740T>G c.698T>G (p.Met233Arg) n.629T>G c.539T>G (p.Met180Arg) n.425T>G c.344T>G (p.Met115Arg) | |
| 4 | g.110618402A>G | CA357983755 | PITX2 | c.471T>C (p.His157=) c.596T>C (p.Met199Thr) n.664T>C n.668T>C c.677T>C (p.Met226Thr) n.740T>C c.698T>C (p.Met233Thr) n.629T>C c.539T>C (p.Met180Thr) n.425T>C c.344T>C (p.Met115Thr) | gnomAD v4 |
| 4 | g.110618402A>T | CA357983756 | PITX2 | c.471T>A (p.His157Gln) c.596T>A (p.Met199Lys) n.664T>A n.668T>A c.677T>A (p.Met226Lys) n.740T>A c.698T>A (p.Met233Lys) n.629T>A c.539T>A (p.Met180Lys) n.425T>A c.344T>A (p.Met115Lys) | |
| 4 | g.110618403T>A | CA357983757 | PITX2 | c.470A>T (p.His157Leu) c.595A>T (p.Met199Leu) n.663A>T n.667A>T c.676A>T (p.Met226Leu) n.739A>T c.697A>T (p.Met233Leu) n.628A>T c.538A>T (p.Met180Leu) n.424A>T c.343A>T (p.Met115Leu) | |
| 4 | g.110618403T>C | CA357983758 | PITX2 | c.470A>G (p.His157Arg) c.595A>G (p.Met199Val) n.663A>G n.667A>G c.676A>G (p.Met226Val) n.739A>G c.697A>G (p.Met233Val) n.628A>G c.538A>G (p.Met180Val) n.424A>G c.343A>G (p.Met115Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618403T>G | CA357983759 | PITX2 | c.470A>C (p.His157Pro) c.595A>C (p.Met199Leu) n.663A>C n.667A>C c.676A>C (p.Met226Leu) n.739A>C c.697A>C (p.Met233Leu) n.628A>C c.538A>C (p.Met180Leu) n.424A>C c.343A>C (p.Met115Leu) | |
| 4 | g.110618403T= | CA1485097844 | PITX2 | c.470A= (p.His157=) c.595A= (p.Met199=) n.663A= n.667A= c.676A= (p.Met226=) n.739A= c.697A= (p.Met233=) n.628A= c.538A= (p.Met180=) n.424A= c.343A= (p.Met115=) | |
| 4 | g.110618404G>A | CA357983760 | PITX2 | c.469C>T (p.His157Tyr) c.594C>T (p.Ser198=) n.662C>T n.666C>T c.675C>T (p.Ser225=) n.738C>T c.696C>T (p.Ser232=) n.627C>T c.537C>T (p.Ser179=) n.423C>T c.342C>T (p.Ser114=) | gnomAD v4 |
| 4 | g.110618404G>C | CA357983761 | PITX2 | c.469C>G (p.His157Asp) c.594C>G (p.Ser198Arg) n.662C>G n.666C>G c.675C>G (p.Ser225Arg) n.738C>G c.696C>G (p.Ser232Arg) n.627C>G c.537C>G (p.Ser179Arg) n.423C>G c.342C>G (p.Ser114Arg) | |
| 4 | g.110618404G>T | CA357983762 | PITX2 | c.469C>A (p.His157Asn) c.594C>A (p.Ser198Arg) n.662C>A n.666C>A c.675C>A (p.Ser225Arg) n.738C>A c.696C>A (p.Ser232Arg) n.627C>A c.537C>A (p.Ser179Arg) n.423C>A c.342C>A (p.Ser114Arg) | |
| 4 | g.110618405C>A | CA357983764 | PITX2 | c.468G>T (p.Gln156His) c.593G>T (p.Ser198Ile) n.661G>T n.665G>T c.674G>T (p.Ser225Ile) n.737G>T c.695G>T (p.Ser232Ile) n.626G>T c.536G>T (p.Ser179Ile) n.422G>T c.341G>T (p.Ser114Ile) | |
| 4 | g.110618405C= | CA1485097847 | PITX2 | c.468G= (p.Gln156=) c.593G= (p.Ser198=) n.661G= n.665G= c.674G= (p.Ser225=) n.737G= c.695G= (p.Ser232=) n.626G= c.536G= (p.Ser179=) n.422G= c.341G= (p.Ser114=) | |
| 4 | g.110618405C>G | CA357983763 | PITX2 | c.468G>C (p.Gln156His) c.593G>C (p.Ser198Thr) n.661G>C n.665G>C c.674G>C (p.Ser225Thr) n.737G>C c.695G>C (p.Ser232Thr) n.626G>C c.536G>C (p.Ser179Thr) n.422G>C c.341G>C (p.Ser114Thr) | |
| 4 | g.110618405C>T | CA3045439 | PITX2 | c.468G>A (p.Gln156=) c.593G>A (p.Ser198Asn) n.661G>A n.665G>A c.674G>A (p.Ser225Asn) n.737G>A c.695G>A (p.Ser232Asn) n.626G>A c.536G>A (p.Ser179Asn) n.422G>A c.341G>A (p.Ser114Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618406T>A | CA357983765 | PITX2 | c.467A>T (p.Gln156Leu) c.592A>T (p.Ser198Cys) n.660A>T n.664A>T c.673A>T (p.Ser225Cys) n.736A>T c.694A>T (p.Ser232Cys) n.625A>T c.535A>T (p.Ser179Cys) n.421A>T c.340A>T (p.Ser114Cys) | |
| 4 | g.110618406T>C | CA357983766 | PITX2 | c.467A>G (p.Gln156Arg) c.592A>G (p.Ser198Gly) n.660A>G n.664A>G c.673A>G (p.Ser225Gly) n.736A>G c.694A>G (p.Ser232Gly) n.625A>G c.535A>G (p.Ser179Gly) n.421A>G c.340A>G (p.Ser114Gly) | |
| 4 | g.110618406T>G | CA357983767 | PITX2 | c.467A>C (p.Gln156Pro) c.592A>C (p.Ser198Arg) n.660A>C n.664A>C c.673A>C (p.Ser225Arg) n.736A>C c.694A>C (p.Ser232Arg) n.625A>C c.535A>C (p.Ser179Arg) n.421A>C c.340A>C (p.Ser114Arg) | |
| 4 | g.110618407G>A | CA357983768 | PITX2 | c.466C>T (p.Gln156Ter) c.591C>T (p.Ser197=) n.659C>T n.663C>T c.672C>T (p.Ser224=) n.735C>T c.693C>T (p.Ser231=) n.624C>T c.534C>T (p.Ser178=) n.420C>T c.339C>T (p.Ser113=) | |
| 4 | g.110618407G>C | CA357983769 | PITX2 | c.466C>G (p.Gln156Glu) c.591C>G (p.Ser197=) n.659C>G n.663C>G c.672C>G (p.Ser224=) n.735C>G c.693C>G (p.Ser231=) n.624C>G c.534C>G (p.Ser178=) n.420C>G c.339C>G (p.Ser113=) | |
| 4 | g.110618407G>T | CA357983770 | PITX2 | c.466C>A (p.Gln156Lys) c.591C>A (p.Ser197=) n.659C>A n.663C>A c.672C>A (p.Ser224=) n.735C>A c.693C>A (p.Ser231=) n.624C>A c.534C>A (p.Ser178=) n.420C>A c.339C>A (p.Ser113=) | |
| 4 | g.110618408G>A | CA357983771 | PITX2 | c.465C>T (p.Val155=) c.590C>T (p.Ser197Phe) n.658C>T n.662C>T c.671C>T (p.Ser224Phe) n.734C>T c.692C>T (p.Ser231Phe) n.623C>T c.533C>T (p.Ser178Phe) n.419C>T c.338C>T (p.Ser113Phe) | |
| 4 | g.110618408G>C | CA357983772 | PITX2 | c.465C>G (p.Val155=) c.590C>G (p.Ser197Cys) n.658C>G n.662C>G c.671C>G (p.Ser224Cys) n.734C>G c.692C>G (p.Ser231Cys) n.623C>G c.533C>G (p.Ser178Cys) n.419C>G c.338C>G (p.Ser113Cys) | |
| 4 | g.110618408G>T | CA357983773 | PITX2 | c.465C>A (p.Val155=) c.590C>A (p.Ser197Tyr) n.658C>A n.662C>A c.671C>A (p.Ser224Tyr) n.734C>A c.692C>A (p.Ser231Tyr) n.623C>A c.533C>A (p.Ser178Tyr) n.419C>A c.338C>A (p.Ser113Tyr) | |
| 4 | g.110618409A>C | CA357983774 | PITX2 | c.464T>G (p.Val155Gly) c.589T>G (p.Ser197Ala) n.657T>G n.661T>G c.670T>G (p.Ser224Ala) n.733T>G c.691T>G (p.Ser231Ala) n.622T>G c.532T>G (p.Ser178Ala) n.418T>G c.337T>G (p.Ser113Ala) | |
| 4 | g.110618409A>G | CA357983775 | PITX2 | c.464T>C (p.Val155Ala) c.589T>C (p.Ser197Pro) n.657T>C n.661T>C c.670T>C (p.Ser224Pro) n.733T>C c.691T>C (p.Ser231Pro) n.622T>C c.532T>C (p.Ser178Pro) n.418T>C c.337T>C (p.Ser113Pro) | |
| 4 | g.110618409A>T | CA357983776 | PITX2 | c.464T>A (p.Val155Asp) c.589T>A (p.Ser197Thr) n.657T>A n.661T>A c.670T>A (p.Ser224Thr) n.733T>A c.691T>A (p.Ser231Thr) n.622T>A c.532T>A (p.Ser178Thr) n.418T>A c.337T>A (p.Ser113Thr) | gnomAD v4 |
| 4 | g.110618410C>A | CA357983779 | PITX2 | c.463G>T (p.Val155Phe) c.588G>T (p.Ser196=) n.656G>T n.660G>T c.669G>T (p.Ser223=) n.732G>T c.690G>T (p.Ser230=) n.621G>T c.531G>T (p.Ser177=) n.417G>T c.336G>T (p.Ser112=) | dbSNP |
| 4 | g.110618410C= | CA1485097855 | PITX2 | c.463G= (p.Val155=) c.588G= (p.Ser196=) n.656G= n.660G= c.669G= (p.Ser223=) n.732G= c.690G= (p.Ser230=) n.621G= c.531G= (p.Ser177=) n.417G= c.336G= (p.Ser112=) | |
| 4 | g.110618410C>G | CA357983778 | PITX2 | c.463G>C (p.Val155Leu) c.588G>C (p.Ser196=) n.656G>C n.660G>C c.669G>C (p.Ser223=) n.732G>C c.690G>C (p.Ser230=) n.621G>C c.531G>C (p.Ser177=) n.417G>C c.336G>C (p.Ser112=) | |
| 4 | g.110618410C>T | CA357983777 | PITX2 | c.463G>A (p.Val155Ile) c.588G>A (p.Ser196=) n.656G>A n.660G>A c.669G>A (p.Ser223=) n.732G>A c.690G>A (p.Ser230=) n.621G>A c.531G>A (p.Ser177=) n.417G>A c.336G>A (p.Ser112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.110618411G>A | CA357983782 | PITX2 | c.462C>T (p.Val154=) c.587C>T (p.Ser196Leu) n.655C>T n.659C>T c.668C>T (p.Ser223Leu) n.731C>T c.689C>T (p.Ser230Leu) n.620C>T c.530C>T (p.Ser177Leu) n.416C>T c.335C>T (p.Ser112Leu) | COSMIC COSMIC |
| 4 | g.110618411G>C | CA357983780 | PITX2 | c.462C>G (p.Val154=) c.587C>G (p.Ser196Trp) n.655C>G n.659C>G c.668C>G (p.Ser223Trp) n.731C>G c.689C>G (p.Ser230Trp) n.620C>G c.530C>G (p.Ser177Trp) n.416C>G c.335C>G (p.Ser112Trp) | COSMIC COSMIC |
| 4 | g.110618411G>T | CA357983781 | PITX2 | c.462C>A (p.Val154=) c.587C>A (p.Ser196Ter) n.655C>A n.659C>A c.668C>A (p.Ser223Ter) n.731C>A c.689C>A (p.Ser230Ter) n.620C>A c.530C>A (p.Ser177Ter) n.416C>A c.335C>A (p.Ser112Ter) | gnomAD v4 |
| 4 | g.110618412A= | CA1485097858 | PITX2 | c.461T= (p.Val154=) c.586T= (p.Ser196=) n.654T= n.658T= c.667T= (p.Ser223=) n.730T= c.688T= (p.Ser230=) n.619T= c.529T= (p.Ser177=) n.415T= c.334T= (p.Ser112=) | |
| 4 | g.110618412A>C | CA357983783 | PITX2 | c.461T>G (p.Val154Gly) c.586T>G (p.Ser196Ala) n.654T>G n.658T>G c.667T>G (p.Ser223Ala) n.730T>G c.688T>G (p.Ser230Ala) n.619T>G c.529T>G (p.Ser177Ala) n.415T>G c.334T>G (p.Ser112Ala) | |
| 4 | g.110618412A>G | CA357983784 | PITX2 | c.461T>C (p.Val154Ala) c.586T>C (p.Ser196Pro) n.654T>C n.658T>C c.667T>C (p.Ser223Pro) n.730T>C c.688T>C (p.Ser230Pro) n.619T>C c.529T>C (p.Ser177Pro) n.415T>C c.334T>C (p.Ser112Pro) | dbSNP |
| 4 | g.110618412A>T | CA357983785 | PITX2 | c.461T>A (p.Val154Asp) c.586T>A (p.Ser196Thr) n.654T>A n.658T>A c.667T>A (p.Ser223Thr) n.730T>A c.688T>A (p.Ser230Thr) n.619T>A c.529T>A (p.Ser177Thr) n.415T>A c.334T>A (p.Ser112Thr) | |
| 4 | g.110618413C>A | CA357983788 | PITX2 | c.460G>T (p.Val154Phe) c.585G>T (p.Met195Ile) n.653G>T n.657G>T c.666G>T (p.Met222Ile) n.729G>T c.687G>T (p.Met229Ile) n.618G>T c.528G>T (p.Met176Ile) n.414G>T c.333G>T (p.Met111Ile) | |
| 4 | g.110618413C>G | CA357983787 | PITX2 | c.460G>C (p.Val154Leu) c.585G>C (p.Met195Ile) n.653G>C n.657G>C c.666G>C (p.Met222Ile) n.729G>C c.687G>C (p.Met229Ile) n.618G>C c.528G>C (p.Met176Ile) n.414G>C c.333G>C (p.Met111Ile) | |
| 4 | g.110618413C>T | CA357983786 | PITX2 | c.460G>A (p.Val154Ile) c.585G>A (p.Met195Ile) n.653G>A n.657G>A c.666G>A (p.Met222Ile) n.729G>A c.687G>A (p.Met229Ile) n.618G>A c.528G>A (p.Met176Ile) n.414G>A c.333G>A (p.Met111Ile) | gnomAD v4 |
| 4 | g.110618414A>C | CA357983789 | PITX2 | c.459T>G (p.His153Gln) c.584T>G (p.Met195Arg) n.652T>G n.656T>G c.665T>G (p.Met222Arg) n.728T>G c.686T>G (p.Met229Arg) n.617T>G c.527T>G (p.Met176Arg) n.413T>G c.332T>G (p.Met111Arg) | dbSNP |
| 4 | g.110618414A>G | CA357983790 | PITX2 | c.459T>C (p.His153=) c.584T>C (p.Met195Thr) n.652T>C n.656T>C c.665T>C (p.Met222Thr) n.728T>C c.686T>C (p.Met229Thr) n.617T>C c.527T>C (p.Met176Thr) n.413T>C c.332T>C (p.Met111Thr) | |
| 4 | g.110618414A>T | CA357983791 | PITX2 | c.459T>A (p.His153Gln) c.584T>A (p.Met195Lys) n.652T>A n.656T>A c.665T>A (p.Met222Lys) n.728T>A c.686T>A (p.Met229Lys) n.617T>A c.527T>A (p.Met176Lys) n.413T>A c.332T>A (p.Met111Lys) | |
| 4 | g.110618415T>A | CA357983792 | PITX2 | c.458A>T (p.His153Leu) c.583A>T (p.Met195Leu) n.651A>T n.655A>T c.664A>T (p.Met222Leu) n.727A>T c.685A>T (p.Met229Leu) n.616A>T c.526A>T (p.Met176Leu) n.412A>T c.331A>T (p.Met111Leu) | |
| 4 | g.110618415T>C | CA3045440 | PITX2 | c.458A>G (p.His153Arg) c.583A>G (p.Met195Val) n.651A>G n.655A>G c.664A>G (p.Met222Val) n.727A>G c.685A>G (p.Met229Val) n.616A>G c.526A>G (p.Met176Val) n.412A>G c.331A>G (p.Met111Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618415T>G | CA357983793 | PITX2 | c.458A>C (p.His153Pro) c.583A>C (p.Met195Leu) n.651A>C n.655A>C c.664A>C (p.Met222Leu) n.727A>C c.685A>C (p.Met229Leu) n.616A>C c.526A>C (p.Met176Leu) n.412A>C c.331A>C (p.Met111Leu) | gnomAD v4 |
| 4 | g.110618415T= | CA1485097861 | PITX2 | c.458A= (p.His153=) c.583A= (p.Met195=) n.651A= n.655A= c.664A= (p.Met222=) n.727A= c.685A= (p.Met229=) n.616A= c.526A= (p.Met176=) n.412A= c.331A= (p.Met111=) | |
| 4 | g.110618416G>A | CA3045441 | PITX2 | c.457C>T (p.His153Tyr) c.582C>T (p.Ser194=) n.650C>T n.654C>T c.663C>T (p.Ser221=) n.726C>T c.684C>T (p.Ser228=) n.615C>T c.525C>T (p.Ser175=) n.411C>T c.330C>T (p.Ser110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618416G>C | CA357983795 | PITX2 | c.457C>G (p.His153Asp) c.582C>G (p.Ser194Arg) n.650C>G n.654C>G c.663C>G (p.Ser221Arg) n.726C>G c.684C>G (p.Ser228Arg) n.615C>G c.525C>G (p.Ser175Arg) n.411C>G c.330C>G (p.Ser110Arg) | gnomAD v4 |
| 4 | g.110618416G= | CA1485097867 | PITX2 | c.457C= (p.His153=) c.582C= (p.Ser194=) n.650C= n.654C= c.663C= (p.Ser221=) n.726C= c.684C= (p.Ser228=) n.615C= c.525C= (p.Ser175=) n.411C= c.330C= (p.Ser110=) | |
| 4 | g.110618416G>T | CA357983794 | PITX2 | c.457C>A (p.His153Asn) c.582C>A (p.Ser194Arg) n.650C>A n.654C>A c.663C>A (p.Ser221Arg) n.726C>A c.684C>A (p.Ser228Arg) n.615C>A c.525C>A (p.Ser175Arg) n.411C>A c.330C>A (p.Ser110Arg) | |
| 4 | g.110618417C>A | CA357983796 | PITX2 | c.456G>T (p.Glu152Asp) c.581G>T (p.Ser194Ile) n.649G>T n.653G>T c.662G>T (p.Ser221Ile) n.725G>T c.683G>T (p.Ser228Ile) n.614G>T c.524G>T (p.Ser175Ile) n.410G>T c.329G>T (p.Ser110Ile) | |
| 4 | g.110618417C>G | CA357983797 | PITX2 | c.456G>C (p.Glu152Asp) c.581G>C (p.Ser194Thr) n.649G>C n.653G>C c.662G>C (p.Ser221Thr) n.725G>C c.683G>C (p.Ser228Thr) n.614G>C c.524G>C (p.Ser175Thr) n.410G>C c.329G>C (p.Ser110Thr) | |
| 4 | g.110618417C>T | CA357983798 | PITX2 | c.456G>A (p.Glu152=) c.581G>A (p.Ser194Asn) n.649G>A n.653G>A c.662G>A (p.Ser221Asn) n.725G>A c.683G>A (p.Ser228Asn) n.614G>A c.524G>A (p.Ser175Asn) n.410G>A c.329G>A (p.Ser110Asn) | gnomAD v4 |
| 4 | g.110618418T>A | CA357983799 | PITX2 | c.455A>T (p.Glu152Val) c.580A>T (p.Ser194Cys) n.648A>T n.652A>T c.661A>T (p.Ser221Cys) n.724A>T c.682A>T (p.Ser228Cys) n.613A>T c.523A>T (p.Ser175Cys) n.409A>T c.328A>T (p.Ser110Cys) | |
| 4 | g.110618418T>C | CA357983800 | PITX2 | c.455A>G (p.Glu152Gly) c.580A>G (p.Ser194Gly) n.648A>G n.652A>G c.661A>G (p.Ser221Gly) n.724A>G c.682A>G (p.Ser228Gly) n.613A>G c.523A>G (p.Ser175Gly) n.409A>G c.328A>G (p.Ser110Gly) | |
| 4 | g.110618418T>G | CA357983801 | PITX2 | c.455A>C (p.Glu152Ala) c.580A>C (p.Ser194Arg) n.648A>C n.652A>C c.661A>C (p.Ser221Arg) n.724A>C c.682A>C (p.Ser228Arg) n.613A>C c.523A>C (p.Ser175Arg) n.409A>C c.328A>C (p.Ser110Arg) | gnomAD v3 gnomAD v4 |
| 4 | g.110618419C>A | CA357983802 | PITX2 | c.454G>T (p.Glu152Ter) c.579G>T (p.Met193Ile) n.647G>T n.651G>T c.660G>T (p.Met220Ile) n.723G>T c.681G>T (p.Met227Ile) n.612G>T c.522G>T (p.Met174Ile) n.408G>T c.327G>T (p.Met109Ile) | |
| 4 | g.110618419C= | CA1485097870 | PITX2 | c.454G= (p.Glu152=) c.579G= (p.Met193=) n.647G= n.651G= c.660G= (p.Met220=) n.723G= c.681G= (p.Met227=) n.612G= c.522G= (p.Met174=) n.408G= c.327G= (p.Met109=) | |
| 4 | g.110618419C>G | CA357983803 | PITX2 | c.454G>C (p.Glu152Gln) c.579G>C (p.Met193Ile) n.647G>C n.651G>C c.660G>C (p.Met220Ile) n.723G>C c.681G>C (p.Met227Ile) n.612G>C c.522G>C (p.Met174Ile) n.408G>C c.327G>C (p.Met109Ile) | |
| 4 | g.110618419C>T | CA3045442 | PITX2 | c.454G>A (p.Glu152Lys) c.579G>A (p.Met193Ile) n.647G>A n.651G>A c.660G>A (p.Met220Ile) n.723G>A c.681G>A (p.Met227Ile) n.612G>A c.522G>A (p.Met174Ile) n.408G>A c.327G>A (p.Met109Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618420A>C | CA357983804 | PITX2 | c.453T>G (p.His151Gln) c.578T>G (p.Met193Arg) n.646T>G n.650T>G c.659T>G (p.Met220Arg) n.722T>G c.680T>G (p.Met227Arg) n.611T>G c.521T>G (p.Met174Arg) n.407T>G c.326T>G (p.Met109Arg) | |
| 4 | g.110618420A>G | CA357983805 | PITX2 | c.453T>C (p.His151=) c.578T>C (p.Met193Thr) n.646T>C n.650T>C c.659T>C (p.Met220Thr) n.722T>C c.680T>C (p.Met227Thr) n.611T>C c.521T>C (p.Met174Thr) n.407T>C c.326T>C (p.Met109Thr) | |
| 4 | g.110618420A>T | CA357983806 | PITX2 | c.453T>A (p.His151Gln) c.578T>A (p.Met193Lys) n.646T>A n.650T>A c.659T>A (p.Met220Lys) n.722T>A c.680T>A (p.Met227Lys) n.611T>A c.521T>A (p.Met174Lys) n.407T>A c.326T>A (p.Met109Lys) | |
| 4 | g.110618421T>A | CA357983808 | PITX2 | c.452A>T (p.His151Leu) c.577A>T (p.Met193Leu) n.645A>T n.649A>T c.658A>T (p.Met220Leu) n.721A>T c.679A>T (p.Met227Leu) n.610A>T c.520A>T (p.Met174Leu) n.406A>T c.325A>T (p.Met109Leu) | |
| 4 | g.110618421T>C | CA357983809 | PITX2 | c.452A>G (p.His151Arg) c.577A>G (p.Met193Val) n.645A>G n.649A>G c.658A>G (p.Met220Val) n.721A>G c.679A>G (p.Met227Val) n.610A>G c.520A>G (p.Met174Val) n.406A>G c.325A>G (p.Met109Val) | gnomAD v4 |
| 4 | g.110618421T>G | CA357983807 | PITX2 | c.452A>C (p.His151Pro) c.577A>C (p.Met193Leu) n.645A>C n.649A>C c.658A>C (p.Met220Leu) n.721A>C c.679A>C (p.Met227Leu) n.610A>C c.520A>C (p.Met174Leu) n.406A>C c.325A>C (p.Met109Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618421T= | CA1485097873 | PITX2 | c.452A= (p.His151=) c.577A= (p.Met193=) n.645A= n.649A= c.658A= (p.Met220=) n.721A= c.679A= (p.Met227=) n.610A= c.520A= (p.Met174=) n.406A= c.325A= (p.Met109=) | |
| 4 | g.110618422G>A | CA3045443 | PITX2 | c.451C>T (p.His151Tyr) c.576C>T (p.Ser192=) n.644C>T n.648C>T c.657C>T (p.Ser219=) n.720C>T c.678C>T (p.Ser226=) n.609C>T c.519C>T (p.Ser173=) n.405C>T c.324C>T (p.Ser108=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618422G>C | CA357983810 | PITX2 | c.451C>G (p.His151Asp) c.576C>G (p.Ser192=) n.644C>G n.648C>G c.657C>G (p.Ser219=) n.720C>G c.678C>G (p.Ser226=) n.609C>G c.519C>G (p.Ser173=) n.405C>G c.324C>G (p.Ser108=) | dbSNP |
| 4 | g.110618422G= | CA1485097876 | PITX2 | c.451C= (p.His151=) c.576C= (p.Ser192=) n.644C= n.648C= c.657C= (p.Ser219=) n.720C= c.678C= (p.Ser226=) n.609C= c.519C= (p.Ser173=) n.405C= c.324C= (p.Ser108=) | |
| 4 | g.110618422G>T | CA357983811 | PITX2 | c.451C>A (p.His151Asn) c.576C>A (p.Ser192=) n.644C>A n.648C>A c.657C>A (p.Ser219=) n.720C>A c.678C>A (p.Ser226=) n.609C>A c.519C>A (p.Ser173=) n.405C>A c.324C>A (p.Ser108=) | |
| 4 | g.110618423G>A | CA357983812 | PITX2 | c.450C>T (p.Val150=) c.575C>T (p.Ser192Phe) n.643C>T n.647C>T c.656C>T (p.Ser219Phe) n.719C>T c.677C>T (p.Ser226Phe) n.608C>T c.518C>T (p.Ser173Phe) n.404C>T c.323C>T (p.Ser108Phe) | gnomAD v4 |
| 4 | g.110618423G>C | CA357983813 | PITX2 | c.450C>G (p.Val150=) c.575C>G (p.Ser192Cys) n.643C>G n.647C>G c.656C>G (p.Ser219Cys) n.719C>G c.677C>G (p.Ser226Cys) n.608C>G c.518C>G (p.Ser173Cys) n.404C>G c.323C>G (p.Ser108Cys) | |
| 4 | g.110618423G>T | CA357983814 | PITX2 | c.450C>A (p.Val150=) c.575C>A (p.Ser192Tyr) n.643C>A n.647C>A c.656C>A (p.Ser219Tyr) n.719C>A c.677C>A (p.Ser226Tyr) n.608C>A c.518C>A (p.Ser173Tyr) n.404C>A c.323C>A (p.Ser108Tyr) | |
| 4 | g.110618424A>C | CA357983817 | PITX2 | c.449T>G (p.Val150Gly) c.574T>G (p.Ser192Ala) n.642T>G n.646T>G c.655T>G (p.Ser219Ala) n.718T>G c.676T>G (p.Ser226Ala) n.607T>G c.517T>G (p.Ser173Ala) n.403T>G c.322T>G (p.Ser108Ala) | |
| 4 | g.110618424A>G | CA357983816 | PITX2 | c.449T>C (p.Val150Ala) c.574T>C (p.Ser192Pro) n.642T>C n.646T>C c.655T>C (p.Ser219Pro) n.718T>C c.676T>C (p.Ser226Pro) n.607T>C c.517T>C (p.Ser173Pro) n.403T>C c.322T>C (p.Ser108Pro) | |
| 4 | g.110618424A>T | CA357983815 | PITX2 | c.449T>A (p.Val150Asp) c.574T>A (p.Ser192Thr) n.642T>A n.646T>A c.655T>A (p.Ser219Thr) n.718T>A c.676T>A (p.Ser226Thr) n.607T>A c.517T>A (p.Ser173Thr) n.403T>A c.322T>A (p.Ser108Thr) | |
| 4 | g.110618425C>A | CA357983818 | PITX2 | c.448G>T (p.Val150Phe) c.573G>T (p.Ser191=) n.641G>T n.645G>T c.654G>T (p.Ser218=) n.717G>T c.675G>T (p.Ser225=) n.606G>T c.516G>T (p.Ser172=) n.402G>T c.321G>T (p.Ser107=) | |
| 4 | g.110618425C= | CA1485097879 | PITX2 | c.448G= (p.Val150=) c.573G= (p.Ser191=) n.641G= n.645G= c.654G= (p.Ser218=) n.717G= c.675G= (p.Ser225=) n.606G= c.516G= (p.Ser172=) n.402G= c.321G= (p.Ser107=) | |
| 4 | g.110618425C>G | CA357983819 | PITX2 | c.448G>C (p.Val150Leu) c.573G>C (p.Ser191=) n.641G>C n.645G>C c.654G>C (p.Ser218=) n.717G>C c.675G>C (p.Ser225=) n.606G>C c.516G>C (p.Ser172=) n.402G>C c.321G>C (p.Ser107=) | |
| 4 | g.110618425C>T | CA3045444 | PITX2 | c.448G>A (p.Val150Ile) c.573G>A (p.Ser191=) n.641G>A n.645G>A c.654G>A (p.Ser218=) n.717G>A c.675G>A (p.Ser225=) n.606G>A c.516G>A (p.Ser172=) n.402G>A c.321G>A (p.Ser107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618426G>A | CA357983820 | PITX2 | c.447C>T (p.Leu149=) c.572C>T (p.Ser191Leu) n.640C>T n.644C>T c.653C>T (p.Ser218Leu) n.716C>T c.674C>T (p.Ser225Leu) n.605C>T c.515C>T (p.Ser172Leu) n.401C>T c.320C>T (p.Ser107Leu) | |
| 4 | g.110618426G>C | CA357983821 | PITX2 | c.447C>G (p.Leu149=) c.572C>G (p.Ser191Trp) n.640C>G n.644C>G c.653C>G (p.Ser218Trp) n.716C>G c.674C>G (p.Ser225Trp) n.605C>G c.515C>G (p.Ser172Trp) n.401C>G c.320C>G (p.Ser107Trp) | |
| 4 | g.110618426G>T | CA357983822 | PITX2 | c.447C>A (p.Leu149=) c.572C>A (p.Ser191Ter) n.640C>A n.644C>A c.653C>A (p.Ser218Ter) n.716C>A c.674C>A (p.Ser225Ter) n.605C>A c.515C>A (p.Ser172Ter) n.401C>A c.320C>A (p.Ser107Ter) | |
| 4 | g.110618427A= | CA1485097882 | PITX2 | c.446T= (p.Leu149=) c.571T= (p.Ser191=) n.639T= n.643T= c.652T= (p.Ser218=) n.715T= c.673T= (p.Ser225=) n.604T= c.514T= (p.Ser172=) n.400T= c.319T= (p.Ser107=) | |
| 4 | g.110618427A>C | CA357983823 | PITX2 | c.446T>G (p.Leu149Arg) c.571T>G (p.Ser191Ala) n.639T>G n.643T>G c.652T>G (p.Ser218Ala) n.715T>G c.673T>G (p.Ser225Ala) n.604T>G c.514T>G (p.Ser172Ala) n.400T>G c.319T>G (p.Ser107Ala) | |
| 4 | g.110618427A>G | CA3045445 | PITX2 | c.446T>C (p.Leu149Pro) c.571T>C (p.Ser191Pro) n.639T>C n.643T>C c.652T>C (p.Ser218Pro) n.715T>C c.673T>C (p.Ser225Pro) n.604T>C c.514T>C (p.Ser172Pro) n.400T>C c.319T>C (p.Ser107Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618427A>T | CA357983824 | PITX2 | c.446T>A (p.Leu149His) c.571T>A (p.Ser191Thr) n.639T>A n.643T>A c.652T>A (p.Ser218Thr) n.715T>A c.673T>A (p.Ser225Thr) n.604T>A c.514T>A (p.Ser172Thr) n.400T>A c.319T>A (p.Ser107Thr) | |
| 4 | g.110618428G>A | CA357983825 | PITX2 | c.445C>T (p.Leu149Phe) c.570C>T (p.Ile190=) n.638C>T n.642C>T c.651C>T (p.Ile217=) n.714C>T c.672C>T (p.Ile224=) n.603C>T c.513C>T (p.Ile171=) n.399C>T c.318C>T (p.Ile106=) | |
| 4 | g.110618428G>C | CA357983826 | PITX2 | c.445C>G (p.Leu149Val) c.570C>G (p.Ile190Met) n.638C>G n.642C>G c.651C>G (p.Ile217Met) n.714C>G c.672C>G (p.Ile224Met) n.603C>G c.513C>G (p.Ile171Met) n.399C>G c.318C>G (p.Ile106Met) | |
| 4 | g.110618428G>T | CA357983827 | PITX2 | c.445C>A (p.Leu149Ile) c.570C>A (p.Ile190=) n.638C>A n.642C>A c.651C>A (p.Ile217=) n.714C>A c.672C>A (p.Ile224=) n.603C>A c.513C>A (p.Ile171=) n.399C>A c.318C>A (p.Ile106=) | gnomAD v4 COSMIC COSMIC |
| 4 | g.110618429A= | CA1485097884 | PITX2 | c.444T= (p.Tyr148=) c.569T= (p.Ile190=) n.637T= n.641T= c.650T= (p.Ile217=) n.713T= c.671T= (p.Ile224=) n.602T= c.512T= (p.Ile171=) n.398T= c.317T= (p.Ile106=) | |
| 4 | g.110618429A>C | CA3045446 | PITX2 | c.444T>G (p.Tyr148Ter) c.569T>G (p.Ile190Ser) n.637T>G n.641T>G c.650T>G (p.Ile217Ser) n.713T>G c.671T>G (p.Ile224Ser) n.602T>G c.512T>G (p.Ile171Ser) n.398T>G c.317T>G (p.Ile106Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618429A>G | CA357983828 | PITX2 | c.444T>C (p.Tyr148=) c.569T>C (p.Ile190Thr) n.637T>C n.641T>C c.650T>C (p.Ile217Thr) n.713T>C c.671T>C (p.Ile224Thr) n.602T>C c.512T>C (p.Ile171Thr) n.398T>C c.317T>C (p.Ile106Thr) | |
| 4 | g.110618429A>T | CA357983829 | PITX2 | c.444T>A (p.Tyr148Ter) c.569T>A (p.Ile190Asn) n.637T>A n.641T>A c.650T>A (p.Ile217Asn) n.713T>A c.671T>A (p.Ile224Asn) n.602T>A c.512T>A (p.Ile171Asn) n.398T>A c.317T>A (p.Ile106Asn) | |
| 4 | g.110618430T>A | CA357983830 | PITX2 | c.443A>T (p.Tyr148Phe) c.568A>T (p.Ile190Phe) n.636A>T n.640A>T c.649A>T (p.Ile217Phe) n.712A>T c.670A>T (p.Ile224Phe) n.601A>T c.511A>T (p.Ile171Phe) n.397A>T c.316A>T (p.Ile106Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618430T>C | CA3045447 | PITX2 | c.443A>G (p.Tyr148Cys) c.568A>G (p.Ile190Val) n.636A>G n.640A>G c.649A>G (p.Ile217Val) n.712A>G c.670A>G (p.Ile224Val) n.601A>G c.511A>G (p.Ile171Val) n.397A>G c.316A>G (p.Ile106Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618430T>G | CA357983831 | PITX2 | c.443A>C (p.Tyr148Ser) c.568A>C (p.Ile190Leu) n.636A>C n.640A>C c.649A>C (p.Ile217Leu) n.712A>C c.670A>C (p.Ile224Leu) n.601A>C c.511A>C (p.Ile171Leu) n.397A>C c.316A>C (p.Ile106Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618430T= | CA1485097888 | PITX2 | c.443A= (p.Tyr148=) c.568A= (p.Ile190=) n.636A= n.640A= c.649A= (p.Ile217=) n.712A= c.670A= (p.Ile224=) n.601A= c.511A= (p.Ile171=) n.397A= c.316A= (p.Ile106=) | |
| 4 | g.110618431A>C | CA357983832 | PITX2 | c.442T>G (p.Tyr148Asp) c.567T>G (p.Ser189=) n.635T>G n.639T>G c.648T>G (p.Ser216=) n.711T>G c.669T>G (p.Ser223=) n.600T>G c.510T>G (p.Ser170=) n.396T>G c.315T>G (p.Ser105=) | |
| 4 | g.110618431A>G | CA357983833 | PITX2 | c.442T>C (p.Tyr148His) c.567T>C (p.Ser189=) n.635T>C n.639T>C c.648T>C (p.Ser216=) n.711T>C c.669T>C (p.Ser223=) n.600T>C c.510T>C (p.Ser170=) n.396T>C c.315T>C (p.Ser105=) | |
| 4 | g.110618431A>T | CA357983834 | PITX2 | c.442T>A (p.Tyr148Asn) c.567T>A (p.Ser189=) n.635T>A n.639T>A c.648T>A (p.Ser216=) n.711T>A c.669T>A (p.Ser223=) n.600T>A c.510T>A (p.Ser170=) n.396T>A c.315T>A (p.Ser105=) |