| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40078638C>A | CA339846892 | PPT1 | c.645G>T (p.Lys215Asn) c.648G>T (p.Lys216Asn) c.339G>T (p.Lys113Asn) c.417G>T (p.Lys139Asn) c.-10G>T (n.-10G>T) c.*271G>T (n.*271G>T) c.626G>T n.885G>T c.149-1725G>T c.735G>T (p.Lys245Asn) c.*500G>T (n.*500G>T) c.*77G>T (n.*77G>T) n.45G>T c.333G>T (p.Lys111Asn) c.423G>T (p.Lys141Asn) | |
| 1 | g.40078638C= | CA1164245540 | PPT1 | c.645G= (p.Lys215=) c.648G= (p.Lys216=) c.339G= (p.Lys113=) c.417G= (p.Lys139=) c.-10G= (n.-10G=) c.*271G= (n.*271G=) c.626G= n.885G= c.149-1725G= c.735G= (p.Lys245=) c.*500G= (n.*500G=) c.*77G= (n.*77G=) n.45G= c.333G= (p.Lys111=) c.423G= (p.Lys141=) | |
| 1 | g.40078638C>G | CA789592 | PPT1 | c.645G>C (p.Lys215Asn) c.648G>C (p.Lys216Asn) c.339G>C (p.Lys113Asn) c.417G>C (p.Lys139Asn) c.-10G>C (n.-10G>C) c.*271G>C (n.*271G>C) c.626G>C n.885G>C c.149-1725G>C c.735G>C (p.Lys245Asn) c.*500G>C (n.*500G>C) c.*77G>C (n.*77G>C) n.45G>C c.333G>C (p.Lys111Asn) c.423G>C (p.Lys141Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40078638C>T | CA417322234 | PPT1 | c.645G>A (p.Lys215=) c.648G>A (p.Lys216=) c.339G>A (p.Lys113=) c.417G>A (p.Lys139=) c.-10G>A (n.-10G>A) c.*271G>A (n.*271G>A) c.626G>A n.885G>A c.149-1725G>A c.735G>A (p.Lys245=) c.*500G>A (n.*500G>A) c.*77G>A (n.*77G>A) n.45G>A c.333G>A (p.Lys111=) c.423G>A (p.Lys141=) | |
| 1 | g.40078639T>A | CA339846896 | PPT1 | c.644A>T (p.Lys215Met) c.647A>T (p.Lys216Met) c.338A>T (p.Lys113Met) c.416A>T (p.Lys139Met) c.-11A>T (n.-11A>T) c.*270A>T (n.*270A>T) c.625A>T n.884A>T c.149-1726A>T c.734A>T (p.Lys245Met) c.*499A>T (n.*499A>T) c.*76A>T (n.*76A>T) n.44A>T c.332A>T (p.Lys111Met) c.422A>T (p.Lys141Met) | gnomAD v4 |
| 1 | g.40078639T>C | CA339846898 | PPT1 | c.644A>G (p.Lys215Arg) c.647A>G (p.Lys216Arg) c.338A>G (p.Lys113Arg) c.416A>G (p.Lys139Arg) c.-11A>G (n.-11A>G) c.*270A>G (n.*270A>G) c.625A>G n.884A>G c.149-1726A>G c.734A>G (p.Lys245Arg) c.*499A>G (n.*499A>G) c.*76A>G (n.*76A>G) n.44A>G c.332A>G (p.Lys111Arg) c.422A>G (p.Lys141Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40078639T>G | CA339846900 | PPT1 | c.644A>C (p.Lys215Thr) c.647A>C (p.Lys216Thr) c.338A>C (p.Lys113Thr) c.416A>C (p.Lys139Thr) c.-11A>C (n.-11A>C) c.*270A>C (n.*270A>C) c.625A>C n.884A>C c.149-1726A>C c.734A>C (p.Lys245Thr) c.*499A>C (n.*499A>C) c.*76A>C (n.*76A>C) n.44A>C c.332A>C (p.Lys111Thr) c.422A>C (p.Lys141Thr) | |
| 1 | g.40078639T= | CA1164245541 | PPT1 | c.644A= (p.Lys215=) c.647A= (p.Lys216=) c.338A= (p.Lys113=) c.416A= (p.Lys139=) c.-11A= (n.-11A=) c.*270A= (n.*270A=) c.625A= n.884A= c.149-1726A= c.734A= (p.Lys245=) c.*499A= (n.*499A=) c.*76A= (n.*76A=) n.44A= c.332A= (p.Lys111=) c.422A= (p.Lys141=) | |
| 1 | g.40078640T>A | CA339846902 | PPT1 | c.643A>T (p.Lys215Ter) c.646A>T (p.Lys216Ter) c.337A>T (p.Lys113Ter) c.415A>T (p.Lys139Ter) c.-12A>T (n.-12A>T) c.*269A>T (n.*269A>T) c.624A>T n.883A>T c.149-1727A>T c.733A>T (p.Lys245Ter) c.*498A>T (n.*498A>T) c.*75A>T (n.*75A>T) n.43A>T c.331A>T (p.Lys111Ter) c.421A>T (p.Lys141Ter) | |
| 1 | g.40078640T>C | CA789593 | PPT1 | c.643A>G (p.Lys215Glu) c.646A>G (p.Lys216Glu) c.337A>G (p.Lys113Glu) c.415A>G (p.Lys139Glu) c.-12A>G (n.-12A>G) c.*269A>G (n.*269A>G) c.624A>G n.883A>G c.149-1727A>G c.733A>G (p.Lys245Glu) c.*498A>G (n.*498A>G) c.*75A>G (n.*75A>G) n.43A>G c.331A>G (p.Lys111Glu) c.421A>G (p.Lys141Glu) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.40078640T>G | CA339846904 | PPT1 | c.643A>C (p.Lys215Gln) c.646A>C (p.Lys216Gln) c.337A>C (p.Lys113Gln) c.415A>C (p.Lys139Gln) c.-12A>C (n.-12A>C) c.*269A>C (n.*269A>C) c.624A>C n.883A>C c.149-1727A>C c.733A>C (p.Lys245Gln) c.*498A>C (n.*498A>C) c.*75A>C (n.*75A>C) n.43A>C c.331A>C (p.Lys111Gln) c.421A>C (p.Lys141Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40078640T= | CA1164245542 | PPT1 | c.643A= (p.Lys215=) c.646A= (p.Lys216=) c.337A= (p.Lys113=) c.415A= (p.Lys139=) c.-12A= (n.-12A=) c.*269A= (n.*269A=) c.624A= n.883A= c.149-1727A= c.733A= (p.Lys245=) c.*498A= (n.*498A=) c.*75A= (n.*75A=) n.43A= c.331A= (p.Lys111=) c.421A= (p.Lys141=) | |
| 1 | g.40078641G>A | CA21005856 | PPT1 | c.642C>T (p.Tyr214=) c.645C>T (p.Tyr215=) c.336C>T (p.Tyr112=) c.414C>T (p.Tyr138=) c.-13C>T (n.-13C>T) c.*268C>T (n.*268C>T) c.623C>T n.882C>T c.149-1728C>T c.732C>T (p.Tyr244=) c.*497C>T (n.*497C>T) c.*74C>T (n.*74C>T) n.42C>T c.330C>T (p.Tyr110=) c.420C>T (p.Tyr140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.40078641G>C | CA339846905 | PPT1 | c.642C>G (p.Tyr214Ter) c.645C>G (p.Tyr215Ter) c.336C>G (p.Tyr112Ter) c.414C>G (p.Tyr138Ter) c.-13C>G (n.-13C>G) c.*268C>G (n.*268C>G) c.623C>G n.882C>G c.149-1728C>G c.732C>G (p.Tyr244Ter) c.*497C>G (n.*497C>G) c.*74C>G (n.*74C>G) n.42C>G c.330C>G (p.Tyr110Ter) c.420C>G (p.Tyr140Ter) | |
| 1 | g.40078641G= | CA1164245544 | PPT1 | c.642C= (p.Tyr214=) c.645C= (p.Tyr215=) c.336C= (p.Tyr112=) c.414C= (p.Tyr138=) c.-13C= (n.-13C=) c.*268C= (n.*268C=) c.623C= n.882C= c.149-1728C= c.732C= (p.Tyr244=) c.*497C= (n.*497C=) c.*74C= (n.*74C=) n.42C= c.330C= (p.Tyr110=) c.420C= (p.Tyr140=) | |
| 1 | g.40078641G>T | CA339846907 | PPT1 | c.642C>A (p.Tyr214Ter) c.645C>A (p.Tyr215Ter) c.336C>A (p.Tyr112Ter) c.414C>A (p.Tyr138Ter) c.-13C>A (n.-13C>A) c.*268C>A (n.*268C>A) c.623C>A n.882C>A c.149-1728C>A c.732C>A (p.Tyr244Ter) c.*497C>A (n.*497C>A) c.*74C>A (n.*74C>A) n.42C>A c.330C>A (p.Tyr110Ter) c.420C>A (p.Tyr140Ter) | |
| 1 | g.40078641_40078642delinsGT | CA1164245543 | PPT1 | c.641_642delinsAC (p.Tyr214=) c.644_645delinsAC (p.Tyr215=) c.335_336delinsAC (p.Tyr112=) c.413_414delinsAC (p.Tyr138=) c.-14_-13delinsAC (n.-14_-13delinsAC) c.*267_*268delinsAC (n.*267_*268delinsAC) c.622_623delinsAC n.881_882delinsAC c.149-1729_149-1728delinsAC c.731_732delinsAC (p.Tyr244=) c.*496_*497delinsAC (n.*496_*497delinsAC) c.*73_*74delinsAC (n.*73_*74delinsAC) n.41_42delinsAC c.329_330delinsAC (p.Tyr110=) c.419_420delinsAC (p.Tyr140=) | |
| 1 | g.40078642del | CA263537 | PPT1 | c.641del (p.Tyr214SerfsTer5) c.644del (p.Tyr215SerfsTer5) c.335del (p.Tyr112SerfsTer5) c.413del (p.Tyr138SerfsTer5) c.-14del (n.-14del) c.*267del (n.*267del) c.622del n.881del c.149-1729del c.731del (p.Tyr244SerfsTer5) c.*496del (n.*496del) c.*73del (n.*73del) n.41del c.329del (p.Tyr110SerfsTer5) c.419del (p.Tyr140SerfsTer5) | ClinVar dbSNP |
| 1 | g.40078642T>A | CA339846910 | PPT1 | c.641A>T (p.Tyr214Phe) c.644A>T (p.Tyr215Phe) c.335A>T (p.Tyr112Phe) c.413A>T (p.Tyr138Phe) c.-14A>T (n.-14A>T) c.*267A>T (n.*267A>T) c.622A>T n.881A>T c.149-1729A>T c.731A>T (p.Tyr244Phe) c.*496A>T (n.*496A>T) c.*73A>T (n.*73A>T) n.41A>T c.329A>T (p.Tyr110Phe) c.419A>T (p.Tyr140Phe) | |
| 1 | g.40078642T>C | CA339846912 | PPT1 | c.641A>G (p.Tyr214Cys) c.644A>G (p.Tyr215Cys) c.335A>G (p.Tyr112Cys) c.413A>G (p.Tyr138Cys) c.-14A>G (n.-14A>G) c.*267A>G (n.*267A>G) c.622A>G n.881A>G c.149-1729A>G c.731A>G (p.Tyr244Cys) c.*496A>G (n.*496A>G) c.*73A>G (n.*73A>G) n.41A>G c.329A>G (p.Tyr110Cys) c.419A>G (p.Tyr140Cys) | ClinVar dbSNP |
| 1 | g.40078642T>G | CA339846914 | PPT1 | c.641A>C (p.Tyr214Ser) c.644A>C (p.Tyr215Ser) c.335A>C (p.Tyr112Ser) c.413A>C (p.Tyr138Ser) c.-14A>C (n.-14A>C) c.*267A>C (n.*267A>C) c.622A>C n.881A>C c.149-1729A>C c.731A>C (p.Tyr244Ser) c.*496A>C (n.*496A>C) c.*73A>C (n.*73A>C) n.41A>C c.329A>C (p.Tyr110Ser) c.419A>C (p.Tyr140Ser) | |
| 1 | g.40078642T= | CA1144228759 | PPT1 | c.641A= (p.Tyr214=) c.644A= (p.Tyr215=) c.335A= (p.Tyr112=) c.413A= (p.Tyr138=) c.-14A= (n.-14A=) c.*267A= (n.*267A=) c.622A= n.881A= c.149-1729A= c.731A= (p.Tyr244=) c.*496A= (n.*496A=) c.*73A= (n.*73A=) n.41A= c.329A= (p.Tyr110=) c.419A= (p.Tyr140=) | |
| 1 | g.40078643A>C | CA339846918 | PPT1 | c.640T>G (p.Tyr214Asp) c.643T>G (p.Tyr215Asp) c.334T>G (p.Tyr112Asp) c.412T>G (p.Tyr138Asp) c.-15T>G (n.-15T>G) c.*266T>G (n.*266T>G) c.621T>G n.880T>G c.149-1730T>G c.730T>G (p.Tyr244Asp) c.*495T>G (n.*495T>G) c.*72T>G (n.*72T>G) n.40T>G c.328T>G (p.Tyr110Asp) c.418T>G (p.Tyr140Asp) | |
| 1 | g.40078643A>G | CA339846919 | PPT1 | c.640T>C (p.Tyr214His) c.643T>C (p.Tyr215His) c.334T>C (p.Tyr112His) c.412T>C (p.Tyr138His) c.-15T>C (n.-15T>C) c.*266T>C (n.*266T>C) c.621T>C n.880T>C c.149-1730T>C c.730T>C (p.Tyr244His) c.*495T>C (n.*495T>C) c.*72T>C (n.*72T>C) n.40T>C c.328T>C (p.Tyr110His) c.418T>C (p.Tyr140His) | |
| 1 | g.40078643A>T | CA339846920 | PPT1 | c.640T>A (p.Tyr214Asn) c.643T>A (p.Tyr215Asn) c.334T>A (p.Tyr112Asn) c.412T>A (p.Tyr138Asn) c.-15T>A (n.-15T>A) c.*266T>A (n.*266T>A) c.621T>A n.880T>A c.149-1730T>A c.730T>A (p.Tyr244Asn) c.*495T>A (n.*495T>A) c.*72T>A (n.*72T>A) n.40T>A c.328T>A (p.Tyr110Asn) c.418T>A (p.Tyr140Asn) | |
| 1 | g.40078644G>A | CA417322236 | PPT1 | c.639C>T (p.Ser213=) c.642C>T (p.Ser214=) c.333C>T (p.Ser111=) c.411C>T (p.Ser137=) c.-16C>T (n.-16C>T) c.*265C>T (n.*265C>T) c.620C>T n.879C>T c.149-1731C>T c.729C>T (p.Ser243=) c.*494C>T (n.*494C>T) c.*71C>T (n.*71C>T) n.39C>T c.327C>T (p.Ser109=) c.417C>T (p.Ser139=) | gnomAD v4 |
| 1 | g.40078644G>C | CA417322237 | PPT1 | c.639C>G (p.Ser213=) c.642C>G (p.Ser214=) c.333C>G (p.Ser111=) c.411C>G (p.Ser137=) c.-16C>G (n.-16C>G) c.*265C>G (n.*265C>G) c.620C>G n.879C>G c.149-1731C>G c.729C>G (p.Ser243=) c.*494C>G (n.*494C>G) c.*71C>G (n.*71C>G) n.39C>G c.327C>G (p.Ser109=) c.417C>G (p.Ser139=) | |
| 1 | g.40078644G>T | CA417322235 | PPT1 | c.639C>A (p.Ser213=) c.642C>A (p.Ser214=) c.333C>A (p.Ser111=) c.411C>A (p.Ser137=) c.-16C>A (n.-16C>A) c.*265C>A (n.*265C>A) c.620C>A n.879C>A c.149-1731C>A c.729C>A (p.Ser243=) c.*494C>A (n.*494C>A) c.*71C>A (n.*71C>A) n.39C>A c.327C>A (p.Ser109=) c.417C>A (p.Ser139=) | |
| 1 | g.40078645del | CA2645091484 | PPT1 | c.639del (p.Tyr214ThrfsTer5) c.642del (p.Tyr215ThrfsTer5) c.333del (p.Tyr112ThrfsTer5) c.411del (p.Tyr138ThrfsTer5) c.-16del (n.-16del) c.*265del (n.*265del) c.620del n.879del c.149-1731del c.729del (p.Tyr244ThrfsTer5) c.*494del (n.*494del) c.*71del (n.*71del) n.39del c.327del (p.Tyr110ThrfsTer5) c.417del (p.Tyr140ThrfsTer5) | gnomAD v4 |
| 1 | g.40078645_40078661del | CA2739272470 | PPT1 | c.625-2_639del c.628-2_642del c.319-2_333del c.397-2_411del c.-30-2_-16del c.*251-2_*265del c.606-2_620del n.865-2_879del c.149-1747_149-1731del c.715-2_729del c.*480-2_*494del c.*57-2_*71del n.25-2_39del c.313-2_327del c.403-2_417del | ClinVar |
| 1 | g.40078645G>A | CA339846923 | PPT1 | c.638C>T (p.Ser213Phe) c.641C>T (p.Ser214Phe) c.332C>T (p.Ser111Phe) c.410C>T (p.Ser137Phe) c.-17C>T (n.-17C>T) c.*264C>T (n.*264C>T) c.619C>T n.878C>T c.149-1732C>T c.728C>T (p.Ser243Phe) c.*493C>T (n.*493C>T) c.*70C>T (n.*70C>T) n.38C>T c.326C>T (p.Ser109Phe) c.416C>T (p.Ser139Phe) | |
| 1 | g.40078645G>C | CA339846925 | PPT1 | c.638C>G (p.Ser213Cys) c.641C>G (p.Ser214Cys) c.332C>G (p.Ser111Cys) c.410C>G (p.Ser137Cys) c.-17C>G (n.-17C>G) c.*264C>G (n.*264C>G) c.619C>G n.878C>G c.149-1732C>G c.728C>G (p.Ser243Cys) c.*493C>G (n.*493C>G) c.*70C>G (n.*70C>G) n.38C>G c.326C>G (p.Ser109Cys) c.416C>G (p.Ser139Cys) | |
| 1 | g.40078645G>T | CA339846926 | PPT1 | c.638C>A (p.Ser213Tyr) c.641C>A (p.Ser214Tyr) c.332C>A (p.Ser111Tyr) c.410C>A (p.Ser137Tyr) c.-17C>A (n.-17C>A) c.*264C>A (n.*264C>A) c.619C>A n.878C>A c.149-1732C>A c.728C>A (p.Ser243Tyr) c.*493C>A (n.*493C>A) c.*70C>A (n.*70C>A) n.38C>A c.326C>A (p.Ser109Tyr) c.416C>A (p.Ser139Tyr) | |
| 1 | g.40078646A= | CA1164245545 | PPT1 | c.637T= (p.Ser213=) c.640T= (p.Ser214=) c.331T= (p.Ser111=) c.409T= (p.Ser137=) c.-18T= (n.-18T=) c.*263T= (n.*263T=) c.618T= n.877T= c.149-1733T= c.727T= (p.Ser243=) c.*492T= (n.*492T=) c.*69T= (n.*69T=) n.37T= c.325T= (p.Ser109=) c.415T= (p.Ser139=) | |
| 1 | g.40078646A>C | CA339846929 | PPT1 | c.637T>G (p.Ser213Ala) c.640T>G (p.Ser214Ala) c.331T>G (p.Ser111Ala) c.409T>G (p.Ser137Ala) c.-18T>G (n.-18T>G) c.*263T>G (n.*263T>G) c.618T>G n.877T>G c.149-1733T>G c.727T>G (p.Ser243Ala) c.*492T>G (n.*492T>G) c.*69T>G (n.*69T>G) n.37T>G c.325T>G (p.Ser109Ala) c.415T>G (p.Ser139Ala) | dbSNP |
| 1 | g.40078646A>G | CA339846930 | PPT1 | c.637T>C (p.Ser213Pro) c.640T>C (p.Ser214Pro) c.331T>C (p.Ser111Pro) c.409T>C (p.Ser137Pro) c.-18T>C (n.-18T>C) c.*263T>C (n.*263T>C) c.618T>C n.877T>C c.149-1733T>C c.727T>C (p.Ser243Pro) c.*492T>C (n.*492T>C) c.*69T>C (n.*69T>C) n.37T>C c.325T>C (p.Ser109Pro) c.415T>C (p.Ser139Pro) | |
| 1 | g.40078646A>T | CA339846931 | PPT1 | c.637T>A (p.Ser213Thr) c.640T>A (p.Ser214Thr) c.331T>A (p.Ser111Thr) c.409T>A (p.Ser137Thr) c.-18T>A (n.-18T>A) c.*263T>A (n.*263T>A) c.618T>A n.877T>A c.149-1733T>A c.727T>A (p.Ser243Thr) c.*492T>A (n.*492T>A) c.*69T>A (n.*69T>A) n.37T>A c.325T>A (p.Ser109Thr) c.415T>A (p.Ser139Thr) | |
| 1 | g.40078647C>A | CA339846935 | PPT1 | c.636G>T (p.Glu212Asp) c.639G>T (p.Glu213Asp) c.330G>T (p.Glu110Asp) c.408G>T (p.Glu136Asp) c.-19G>T (n.-19G>T) c.*262G>T (n.*262G>T) c.617G>T n.876G>T c.149-1734G>T c.726G>T (p.Glu242Asp) c.*491G>T (n.*491G>T) c.*68G>T (n.*68G>T) n.36G>T c.324G>T (p.Glu108Asp) c.414G>T (p.Glu138Asp) | |
| 1 | g.40078647C= | CA1164245546 | PPT1 | c.636G= (p.Glu212=) c.639G= (p.Glu213=) c.330G= (p.Glu110=) c.408G= (p.Glu136=) c.-19G= (n.-19G=) c.*262G= (n.*262G=) c.617G= n.876G= c.149-1734G= c.726G= (p.Glu242=) c.*491G= (n.*491G=) c.*68G= (n.*68G=) n.36G= c.324G= (p.Glu108=) c.414G= (p.Glu138=) | |
| 1 | g.40078647C>G | CA339846937 | PPT1 | c.636G>C (p.Glu212Asp) c.639G>C (p.Glu213Asp) c.330G>C (p.Glu110Asp) c.408G>C (p.Glu136Asp) c.-19G>C (n.-19G>C) c.*262G>C (n.*262G>C) c.617G>C n.876G>C c.149-1734G>C c.726G>C (p.Glu242Asp) c.*491G>C (n.*491G>C) c.*68G>C (n.*68G>C) n.36G>C c.324G>C (p.Glu108Asp) c.414G>C (p.Glu138Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40078647C>T | CA789594 | PPT1 | c.636G>A (p.Glu212=) c.639G>A (p.Glu213=) c.330G>A (p.Glu110=) c.408G>A (p.Glu136=) c.-19G>A (n.-19G>A) c.*262G>A (n.*262G>A) c.617G>A n.876G>A c.149-1734G>A c.726G>A (p.Glu242=) c.*491G>A (n.*491G>A) c.*68G>A (n.*68G>A) n.36G>A c.324G>A (p.Glu108=) c.414G>A (p.Glu138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40078648T>A | CA339846940 | PPT1 | c.635A>T (p.Glu212Val) c.638A>T (p.Glu213Val) c.329A>T (p.Glu110Val) c.407A>T (p.Glu136Val) c.-20A>T (n.-20A>T) c.*261A>T (n.*261A>T) c.616A>T n.875A>T c.149-1735A>T c.725A>T (p.Glu242Val) c.*490A>T (n.*490A>T) c.*67A>T (n.*67A>T) n.35A>T c.323A>T (p.Glu108Val) c.413A>T (p.Glu138Val) | |
| 1 | g.40078648T>C | CA339846944 | PPT1 | c.635A>G (p.Glu212Gly) c.638A>G (p.Glu213Gly) c.329A>G (p.Glu110Gly) c.407A>G (p.Glu136Gly) c.-20A>G (n.-20A>G) c.*261A>G (n.*261A>G) c.616A>G n.875A>G c.149-1735A>G c.725A>G (p.Glu242Gly) c.*490A>G (n.*490A>G) c.*67A>G (n.*67A>G) n.35A>G c.323A>G (p.Glu108Gly) c.413A>G (p.Glu138Gly) | |
| 1 | g.40078648T>G | CA339846942 | PPT1 | c.635A>C (p.Glu212Ala) c.638A>C (p.Glu213Ala) c.329A>C (p.Glu110Ala) c.407A>C (p.Glu136Ala) c.-20A>C (n.-20A>C) c.*261A>C (n.*261A>C) c.616A>C n.875A>C c.149-1735A>C c.725A>C (p.Glu242Ala) c.*490A>C (n.*490A>C) c.*67A>C (n.*67A>C) n.35A>C c.323A>C (p.Glu108Ala) c.413A>C (p.Glu138Ala) | |
| 1 | g.40078649C>A | CA339846946 | PPT1 | c.634G>T (p.Glu212Ter) c.637G>T (p.Glu213Ter) c.328G>T (p.Glu110Ter) c.406G>T (p.Glu136Ter) c.-21G>T (n.-21G>T) c.*260G>T (n.*260G>T) c.615G>T n.874G>T c.149-1736G>T c.724G>T (p.Glu242Ter) c.*489G>T (n.*489G>T) c.*66G>T (n.*66G>T) n.34G>T c.322G>T (p.Glu108Ter) c.412G>T (p.Glu138Ter) | ClinVar |
| 1 | g.40078649C= | CA1164245547 | PPT1 | c.634G= (p.Glu212=) c.637G= (p.Glu213=) c.328G= (p.Glu110=) c.406G= (p.Glu136=) c.-21G= (n.-21G=) c.*260G= (n.*260G=) c.615G= n.874G= c.149-1736G= c.724G= (p.Glu242=) c.*489G= (n.*489G=) c.*66G= (n.*66G=) n.34G= c.322G= (p.Glu108=) c.412G= (p.Glu138=) | |
| 1 | g.40078649C>G | CA339846950 | PPT1 | c.634G>C (p.Glu212Gln) c.637G>C (p.Glu213Gln) c.328G>C (p.Glu110Gln) c.406G>C (p.Glu136Gln) c.-21G>C (n.-21G>C) c.*260G>C (n.*260G>C) c.615G>C n.874G>C c.149-1736G>C c.724G>C (p.Glu242Gln) c.*489G>C (n.*489G>C) c.*66G>C (n.*66G>C) n.34G>C c.322G>C (p.Glu108Gln) c.412G>C (p.Glu138Gln) | |
| 1 | g.40078649C>T | CA339846948 | PPT1 | c.634G>A (p.Glu212Lys) c.637G>A (p.Glu213Lys) c.328G>A (p.Glu110Lys) c.406G>A (p.Glu136Lys) c.-21G>A (n.-21G>A) c.*260G>A (n.*260G>A) c.615G>A n.874G>A c.149-1736G>A c.724G>A (p.Glu242Lys) c.*489G>A (n.*489G>A) c.*66G>A (n.*66G>A) n.34G>A c.322G>A (p.Glu108Lys) c.412G>A (p.Glu138Lys) | |
| 1 | g.40078650A>C | CA339846953 | PPT1 | c.633T>G (p.Asn211Lys) c.636T>G (p.Asn212Lys) c.327T>G (p.Asn109Lys) c.405T>G (p.Asn135Lys) c.-22T>G (n.-22T>G) c.*259T>G (n.*259T>G) c.614T>G n.873T>G c.149-1737T>G c.723T>G (p.Asn241Lys) c.*488T>G (n.*488T>G) c.*65T>G (n.*65T>G) n.33T>G c.321T>G (p.Asn107Lys) c.411T>G (p.Asn137Lys) | gnomAD v4 |
| 1 | g.40078650A>G | CA417322238 | PPT1 | c.633T>C (p.Asn211=) c.636T>C (p.Asn212=) c.327T>C (p.Asn109=) c.405T>C (p.Asn135=) c.-22T>C (n.-22T>C) c.*259T>C (n.*259T>C) c.614T>C n.873T>C c.149-1737T>C c.723T>C (p.Asn241=) c.*488T>C (n.*488T>C) c.*65T>C (n.*65T>C) n.33T>C c.321T>C (p.Asn107=) c.411T>C (p.Asn137=) | gnomAD v4 COSMIC |