Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294580C>A | CA421245594 | PKLR | c.867G>T (p.Arg289=) c.774G>T (p.Arg258=) c.1026G>T (p.Arg342=) c.675G>T (p.Arg225=) | |
1 | g.155294580C>G | CA421245596 | PKLR | c.867G>C (p.Arg289=) c.774G>C (p.Arg258=) c.1026G>C (p.Arg342=) c.675G>C (p.Arg225=) | |
1 | g.155294580C>T | CA421245598 | PKLR | c.867G>A (p.Arg289=) c.774G>A (p.Arg258=) c.1026G>A (p.Arg342=) c.675G>A (p.Arg225=) | |
1 | g.155294581C>A | CA342754103 | PKLR | c.866G>T (p.Arg289Leu) c.773G>T (p.Arg258Leu) c.1025G>T (p.Arg342Leu) c.674G>T (p.Arg225Leu) | COSMIC |
1 | g.155294581C= | CA1149134989 | PKLR | c.866G= (p.Arg289=) c.773G= (p.Arg258=) c.1025G= (p.Arg342=) c.674G= (p.Arg225=) | |
1 | g.155294581C>G | CA342754105 | PKLR | c.866G>C (p.Arg289Pro) c.773G>C (p.Arg258Pro) c.1025G>C (p.Arg342Pro) c.674G>C (p.Arg225Pro) | |
1 | g.155294581C>T | CA1144191 | PKLR | c.866G>A (p.Arg289Gln) c.773G>A (p.Arg258Gln) c.1025G>A (p.Arg342Gln) c.674G>A (p.Arg225Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294582G>A | CA342754107 | PKLR | c.865C>T (p.Arg289Trp) c.772C>T (p.Arg258Trp) c.1024C>T (p.Arg342Trp) c.673C>T (p.Arg225Trp) | |
1 | g.155294582G>C | CA342754109 | PKLR | c.865C>G (p.Arg289Gly) c.772C>G (p.Arg258Gly) c.1024C>G (p.Arg342Gly) c.673C>G (p.Arg225Gly) | |
1 | g.155294582G>T | CA421245601 | PKLR | c.865C>A (p.Arg289=) c.772C>A (p.Arg258=) c.1024C>A (p.Arg342=) c.673C>A (p.Arg225=) | dbSNP gnomAD v4 |
1 | g.155294583C>A | CA421245602 | PKLR | c.864G>T (p.Val288=) c.771G>T (p.Val257=) c.1023G>T (p.Val341=) c.672G>T (p.Val224=) | |
1 | g.155294583C>G | CA421245603 | PKLR | c.864G>C (p.Val288=) c.771G>C (p.Val257=) c.1023G>C (p.Val341=) c.672G>C (p.Val224=) | |
1 | g.155294583C>T | CA421245604 | PKLR | c.864G>A (p.Val288=) c.771G>A (p.Val257=) c.1023G>A (p.Val341=) c.672G>A (p.Val224=) | |
1 | g.155294584A>C | CA342754112 | PKLR | c.863T>G (p.Val288Gly) c.770T>G (p.Val257Gly) c.1022T>G (p.Val341Gly) c.671T>G (p.Val224Gly) | |
1 | g.155294584A>G | CA342754115 | PKLR | c.863T>C (p.Val288Ala) c.770T>C (p.Val257Ala) c.1022T>C (p.Val341Ala) c.671T>C (p.Val224Ala) | gnomAD v4 |
1 | g.155294584A>T | CA342754113 | PKLR | c.863T>A (p.Val288Glu) c.770T>A (p.Val257Glu) c.1022T>A (p.Val341Glu) c.671T>A (p.Val224Glu) | |
1 | g.155294585C>A | CA342754118 | PKLR | c.862G>T (p.Val288Leu) c.769G>T (p.Val257Leu) c.1021G>T (p.Val341Leu) c.670G>T (p.Val224Leu) | gnomAD v4 |
1 | g.155294585C>G | CA342754120 | PKLR | c.862G>C (p.Val288Leu) c.769G>C (p.Val257Leu) c.1021G>C (p.Val341Leu) c.670G>C (p.Val224Leu) | |
1 | g.155294585C>T | CA342754122 | PKLR | c.862G>A (p.Val288Met) c.769G>A (p.Val257Met) c.1021G>A (p.Val341Met) c.670G>A (p.Val224Met) | gnomAD v4 |
1 | g.155294586A>C | CA342754124 | PKLR | c.861T>G (p.Phe287Leu) c.768T>G (p.Phe256Leu) c.1020T>G (p.Phe340Leu) c.669T>G (p.Phe223Leu) | |
1 | g.155294586A>G | CA421245607 | PKLR | c.861T>C (p.Phe287=) c.768T>C (p.Phe256=) c.1020T>C (p.Phe340=) c.669T>C (p.Phe223=) | |
1 | g.155294586A>T | CA342754126 | PKLR | c.861T>A (p.Phe287Leu) c.768T>A (p.Phe256Leu) c.1020T>A (p.Phe340Leu) c.669T>A (p.Phe223Leu) | |
1 | g.155294587A>C | CA342754128 | PKLR | c.860T>G (p.Phe287Cys) c.767T>G (p.Phe256Cys) c.1019T>G (p.Phe340Cys) c.668T>G (p.Phe223Cys) | |
1 | g.155294587A>G | CA342754130 | PKLR | c.860T>C (p.Phe287Ser) c.767T>C (p.Phe256Ser) c.1019T>C (p.Phe340Ser) c.668T>C (p.Phe223Ser) | |
1 | g.155294587A>T | CA342754132 | PKLR | c.860T>A (p.Phe287Tyr) c.767T>A (p.Phe256Tyr) c.1019T>A (p.Phe340Tyr) c.668T>A (p.Phe223Tyr) | |
1 | g.155294588A>C | CA342754134 | PKLR | c.859T>G (p.Phe287Val) c.766T>G (p.Phe256Val) c.1018T>G (p.Phe340Val) c.667T>G (p.Phe223Val) | |
1 | g.155294588A>G | CA342754137 | PKLR | c.859T>C (p.Phe287Leu) c.766T>C (p.Phe256Leu) c.1018T>C (p.Phe340Leu) c.667T>C (p.Phe223Leu) | |
1 | g.155294588A>T | CA342754138 | PKLR | c.859T>A (p.Phe287Ile) c.766T>A (p.Phe256Ile) c.1018T>A (p.Phe340Ile) c.667T>A (p.Phe223Ile) | |
1 | g.155294589G>A | CA421245609 | PKLR | c.858C>T (p.Ser286=) c.765C>T (p.Ser255=) c.1017C>T (p.Ser339=) c.666C>T (p.Ser222=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294589G>C | CA421245610 | PKLR | c.858C>G (p.Ser286=) c.765C>G (p.Ser255=) c.1017C>G (p.Ser339=) c.666C>G (p.Ser222=) | |
1 | g.155294589G= | CA1142370442 | PKLR | c.858C= (p.Ser286=) c.765C= (p.Ser255=) c.1017C= (p.Ser339=) c.666C= (p.Ser222=) | |
1 | g.155294589G>T | CA1144192 | PKLR | c.858C>A (p.Ser286=) c.765C>A (p.Ser255=) c.1017C>A (p.Ser339=) c.666C>A (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294590G>A | CA342754144 | PKLR | c.857C>T (p.Ser286Phe) c.764C>T (p.Ser255Phe) c.1016C>T (p.Ser339Phe) c.665C>T (p.Ser222Phe) | |
1 | g.155294590G>C | CA342754141 | PKLR | c.857C>G (p.Ser286Cys) c.764C>G (p.Ser255Cys) c.1016C>G (p.Ser339Cys) c.665C>G (p.Ser222Cys) | gnomAD v4 |
1 | g.155294590G>T | CA342754143 | PKLR | c.857C>A (p.Ser286Tyr) c.764C>A (p.Ser255Tyr) c.1016C>A (p.Ser339Tyr) c.665C>A (p.Ser222Tyr) | |
1 | g.155294591A>C | CA342754147 | PKLR | c.856T>G (p.Ser286Ala) c.763T>G (p.Ser255Ala) c.1015T>G (p.Ser339Ala) c.664T>G (p.Ser222Ala) | |
1 | g.155294591A>G | CA342754148 | PKLR | c.856T>C (p.Ser286Pro) c.763T>C (p.Ser255Pro) c.1015T>C (p.Ser339Pro) c.664T>C (p.Ser222Pro) | gnomAD v4 |
1 | g.155294591A>T | CA342754150 | PKLR | c.856T>A (p.Ser286Thr) c.763T>A (p.Ser255Thr) c.1015T>A (p.Ser339Thr) c.664T>A (p.Ser222Thr) | |
1 | g.155294592G>A | CA421245617 | PKLR | c.855C>T (p.Ala285=) c.762C>T (p.Ala254=) c.1014C>T (p.Ala338=) c.663C>T (p.Ala221=) | |
1 | g.155294592G>C | CA421245618 | PKLR | c.855C>G (p.Ala285=) c.762C>G (p.Ala254=) c.1014C>G (p.Ala338=) c.663C>G (p.Ala221=) | |
1 | g.155294592G>T | CA421245619 | PKLR | c.855C>A (p.Ala285=) c.762C>A (p.Ala254=) c.1014C>A (p.Ala338=) c.663C>A (p.Ala221=) | |
1 | g.155294593G>A | CA342754152 | PKLR | c.854C>T (p.Ala285Val) c.761C>T (p.Ala254Val) c.1013C>T (p.Ala338Val) c.662C>T (p.Ala221Val) | |
1 | g.155294593G>C | CA342754154 | PKLR | c.854C>G (p.Ala285Gly) c.761C>G (p.Ala254Gly) c.1013C>G (p.Ala338Gly) c.662C>G (p.Ala221Gly) | |
1 | g.155294593G>T | CA342754156 | PKLR | c.854C>A (p.Ala285Asp) c.761C>A (p.Ala254Asp) c.1013C>A (p.Ala338Asp) c.662C>A (p.Ala221Asp) | |
1 | g.155294594C>A | CA342754158 | PKLR | c.853G>T (p.Ala285Ser) c.760G>T (p.Ala254Ser) c.1012G>T (p.Ala338Ser) c.661G>T (p.Ala221Ser) | |
1 | g.155294594C>G | CA342754160 | PKLR | c.853G>C (p.Ala285Pro) c.760G>C (p.Ala254Pro) c.1012G>C (p.Ala338Pro) c.661G>C (p.Ala221Pro) | |
1 | g.155294594C>T | CA342754162 | PKLR | c.853G>A (p.Ala285Thr) c.760G>A (p.Ala254Thr) c.1012G>A (p.Ala338Thr) c.661G>A (p.Ala221Thr) | |
1 | g.155294595A>C | CA342754164 | PKLR | c.852T>G (p.Phe284Leu) c.759T>G (p.Phe253Leu) c.1011T>G (p.Phe337Leu) c.660T>G (p.Phe220Leu) | |
1 | g.155294595A>G | CA421245624 | PKLR | c.852T>C (p.Phe284=) c.759T>C (p.Phe253=) c.1011T>C (p.Phe337=) c.660T>C (p.Phe220=) | gnomAD v4 |
1 | g.155294595A>T | CA342754166 | PKLR | c.852T>A (p.Phe284Leu) c.759T>A (p.Phe253Leu) c.1011T>A (p.Phe337Leu) c.660T>A (p.Phe220Leu) | |
1 | g.155294596A>C | CA342754173 | PKLR | c.851T>G (p.Phe284Cys) c.758T>G (p.Phe253Cys) c.1010T>G (p.Phe337Cys) c.659T>G (p.Phe220Cys) | |
1 | g.155294596A>G | CA342754171 | PKLR | c.851T>C (p.Phe284Ser) c.758T>C (p.Phe253Ser) c.1010T>C (p.Phe337Ser) c.659T>C (p.Phe220Ser) | |
1 | g.155294596A>T | CA342754169 | PKLR | c.851T>A (p.Phe284Tyr) c.758T>A (p.Phe253Tyr) c.1010T>A (p.Phe337Tyr) c.659T>A (p.Phe220Tyr) | |
1 | g.155294597A>C | CA342754176 | PKLR | c.850T>G (p.Phe284Val) c.757T>G (p.Phe253Val) c.1009T>G (p.Phe337Val) c.658T>G (p.Phe220Val) | |
1 | g.155294597A>G | CA342754178 | PKLR | c.850T>C (p.Phe284Leu) c.757T>C (p.Phe253Leu) c.1009T>C (p.Phe337Leu) c.658T>C (p.Phe220Leu) | |
1 | g.155294597A>T | CA342754179 | PKLR | c.850T>A (p.Phe284Ile) c.757T>A (p.Phe253Ile) c.1009T>A (p.Phe337Ile) c.658T>A (p.Phe220Ile) | |
1 | g.155294598G>A | CA421245627 | PKLR | c.849C>T (p.Val283=) c.756C>T (p.Val252=) c.1008C>T (p.Val336=) c.657C>T (p.Val219=) | |
1 | g.155294598G>C | CA421245626 | PKLR | c.849C>G (p.Val283=) c.756C>G (p.Val252=) c.1008C>G (p.Val336=) c.657C>G (p.Val219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294598G= | CA1200112216 | PKLR | c.849C= (p.Val283=) c.756C= (p.Val252=) c.1008C= (p.Val336=) c.657C= (p.Val219=) | |
1 | g.155294598G>T | CA421245625 | PKLR | c.849C>A (p.Val283=) c.756C>A (p.Val252=) c.1008C>A (p.Val336=) c.657C>A (p.Val219=) | |
1 | g.155294599A= | CA1200112217 | PKLR | c.848T= (p.Val283=) c.755T= (p.Val252=) c.1007T= (p.Val336=) c.656T= (p.Val219=) | |
1 | g.155294599A>C | CA342754182 | PKLR | c.848T>G (p.Val283Gly) c.755T>G (p.Val252Gly) c.1007T>G (p.Val336Gly) c.656T>G (p.Val219Gly) | gnomAD v4 |
1 | g.155294599A>G | CA342754184 | PKLR | c.848T>C (p.Val283Ala) c.755T>C (p.Val252Ala) c.1007T>C (p.Val336Ala) c.656T>C (p.Val219Ala) | gnomAD v4 |
1 | g.155294599A>T | CA342754186 | PKLR | c.848T>A (p.Val283Asp) c.755T>A (p.Val252Asp) c.1007T>A (p.Val336Asp) c.656T>A (p.Val219Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294600C>A | CA342754192 | PKLR | c.847G>T (p.Val283Phe) c.754G>T (p.Val252Phe) c.1006G>T (p.Val336Phe) c.655G>T (p.Val219Phe) | |
1 | g.155294600C= | CA1200112218 | PKLR | c.847G= (p.Val283=) c.754G= (p.Val252=) c.1006G= (p.Val336=) c.655G= (p.Val219=) | |
1 | g.155294600C>G | CA342754188 | PKLR | c.847G>C (p.Val283Leu) c.754G>C (p.Val252Leu) c.1006G>C (p.Val336Leu) c.655G>C (p.Val219Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294600C>T | CA342754190 | PKLR | c.847G>A (p.Val283Ile) c.754G>A (p.Val252Ile) c.1006G>A (p.Val336Ile) c.655G>A (p.Val219Ile) | gnomAD v4 |
1 | g.155294600_155294601delinsCG | CA1200112219 | PKLR | c.846_847delinsCG (p.Ile282=) c.753_754delinsCG (p.Ile251=) c.1005_1006delinsCG (p.Ile335=) c.654_655delinsCG (p.Ile218=) | |
1 | g.155294601del | CA1144193 | PKLR | c.846del (p.Ile282MetfsTer?) c.753del (p.Ile251MetfsTer?) c.1005del (p.Ile335MetfsTer?) c.654del (p.Ile218MetfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294601G>A | CA421245630 | PKLR | c.846C>T (p.Ile282=) c.753C>T (p.Ile251=) c.1005C>T (p.Ile335=) c.654C>T (p.Ile218=) | |
1 | g.155294601G>C | CA30903276 | PKLR | c.846C>G (p.Ile282Met) c.753C>G (p.Ile251Met) c.1005C>G (p.Ile335Met) c.654C>G (p.Ile218Met) | dbSNP gnomAD v4 |
1 | g.155294601G= | CA1200112220 | PKLR | c.846C= (p.Ile282=) c.753C= (p.Ile251=) c.1005C= (p.Ile335=) c.654C= (p.Ile218=) | |
1 | g.155294601G>T | CA421245629 | PKLR | c.846C>A (p.Ile282=) c.753C>A (p.Ile251=) c.1005C>A (p.Ile335=) c.654C>A (p.Ile218=) | |
1 | g.155294602A>C | CA342754197 | PKLR | c.845T>G (p.Ile282Ser) c.752T>G (p.Ile251Ser) c.1004T>G (p.Ile335Ser) c.653T>G (p.Ile218Ser) | |
1 | g.155294602A>G | CA342754199 | PKLR | c.845T>C (p.Ile282Thr) c.752T>C (p.Ile251Thr) c.1004T>C (p.Ile335Thr) c.653T>C (p.Ile218Thr) | gnomAD v4 |
1 | g.155294602A>T | CA342754200 | PKLR | c.845T>A (p.Ile282Asn) c.752T>A (p.Ile251Asn) c.1004T>A (p.Ile335Asn) c.653T>A (p.Ile218Asn) | |
1 | g.155294603T>A | CA342754203 | PKLR | c.844A>T (p.Ile282Phe) c.751A>T (p.Ile251Phe) c.1003A>T (p.Ile335Phe) c.652A>T (p.Ile218Phe) | ClinVar |
1 | g.155294603T>C | CA342754206 | PKLR | c.844A>G (p.Ile282Val) c.751A>G (p.Ile251Val) c.1003A>G (p.Ile335Val) c.652A>G (p.Ile218Val) | gnomAD v4 |
1 | g.155294603T>G | CA342754205 | PKLR | c.844A>C (p.Ile282Leu) c.751A>C (p.Ile251Leu) c.1003A>C (p.Ile335Leu) c.652A>C (p.Ile218Leu) | |
1 | g.155294604G>A | CA421245634 | PKLR | c.843C>T (p.Asp281=) c.750C>T (p.Asp250=) c.1002C>T (p.Asp334=) c.651C>T (p.Asp217=) | gnomAD v4 |
1 | g.155294604G>C | CA342754209 | PKLR | c.843C>G (p.Asp281Glu) c.750C>G (p.Asp250Glu) c.1002C>G (p.Asp334Glu) c.651C>G (p.Asp217Glu) | |
1 | g.155294604G>T | CA342754210 | PKLR | c.843C>A (p.Asp281Glu) c.750C>A (p.Asp250Glu) c.1002C>A (p.Asp334Glu) c.651C>A (p.Asp217Glu) | gnomAD v4 |
1 | g.155294605T>A | CA342754212 | PKLR | c.842A>T (p.Asp281Val) c.749A>T (p.Asp250Val) c.1001A>T (p.Asp334Val) c.650A>T (p.Asp217Val) | |
1 | g.155294605T>C | CA342754214 | PKLR | c.842A>G (p.Asp281Gly) c.749A>G (p.Asp250Gly) c.1001A>G (p.Asp334Gly) c.650A>G (p.Asp217Gly) | |
1 | g.155294605T>G | CA342754216 | PKLR | c.842A>C (p.Asp281Ala) c.749A>C (p.Asp250Ala) c.1001A>C (p.Asp334Ala) c.650A>C (p.Asp217Ala) | |
1 | g.155294613_155294624del | CA2746213714 | PKLR | c.831_842del (p.Glu277_Val280del) c.738_749del (p.Glu246_Val249del) c.990_1001del (p.Glu330_Val333del) c.639_650del (p.Glu213_Val216del) | |
1 | g.155294606C>A | CA342754218 | PKLR | c.841G>T (p.Asp281Tyr) c.748G>T (p.Asp250Tyr) c.1000G>T (p.Asp334Tyr) c.649G>T (p.Asp217Tyr) | |
1 | g.155294606C= | CA1200112221 | PKLR | c.841G= (p.Asp281=) c.748G= (p.Asp250=) c.1000G= (p.Asp334=) c.649G= (p.Asp217=) | |
1 | g.155294606C>G | CA342754220 | PKLR | c.841G>C (p.Asp281His) c.748G>C (p.Asp250His) c.1000G>C (p.Asp334His) c.649G>C (p.Asp217His) | |
1 | g.155294606C>T | CA342754222 | PKLR | c.841G>A (p.Asp281Asn) c.748G>A (p.Asp250Asn) c.1000G>A (p.Asp334Asn) c.649G>A (p.Asp217Asn) | dbSNP gnomAD v4 COSMIC |
1 | g.155294607C>A | CA421245638 | PKLR | c.840G>T (p.Val280=) c.747G>T (p.Val249=) c.999G>T (p.Val333=) c.648G>T (p.Val216=) | |
1 | g.155294607C>G | CA421245639 | PKLR | c.840G>C (p.Val280=) c.747G>C (p.Val249=) c.999G>C (p.Val333=) c.648G>C (p.Val216=) | |
1 | g.155294607C>T | CA421245640 | PKLR | c.840G>A (p.Val280=) c.747G>A (p.Val249=) c.999G>A (p.Val333=) c.648G>A (p.Val216=) | |
1 | g.155294608A= | CA1200112222 | PKLR | c.839T= (p.Val280=) c.746T= (p.Val249=) c.998T= (p.Val333=) c.647T= (p.Val216=) | |
1 | g.155294608A>C | CA342754224 | PKLR | c.839T>G (p.Val280Gly) c.746T>G (p.Val249Gly) c.998T>G (p.Val333Gly) c.647T>G (p.Val216Gly) | dbSNP |
1 | g.155294608A>G | CA342754225 | PKLR | c.839T>C (p.Val280Ala) c.746T>C (p.Val249Ala) c.998T>C (p.Val333Ala) c.647T>C (p.Val216Ala) | |
1 | g.155294608A>T | CA342754227 | PKLR | c.839T>A (p.Val280Glu) c.746T>A (p.Val249Glu) c.998T>A (p.Val333Glu) c.647T>A (p.Val216Glu) | |
1 | g.155294609C>A | CA342754233 | PKLR | c.838G>T (p.Val280Leu) c.745G>T (p.Val249Leu) c.997G>T (p.Val333Leu) c.646G>T (p.Val216Leu) | |
1 | g.155294609C= | CA1200112223 | PKLR | c.838G= (p.Val280=) c.745G= (p.Val249=) c.997G= (p.Val333=) c.646G= (p.Val216=) | |
1 | g.155294609C>G | CA342754232 | PKLR | c.838G>C (p.Val280Leu) c.745G>C (p.Val249Leu) c.997G>C (p.Val333Leu) c.646G>C (p.Val216Leu) | |
1 | g.155294609C>T | CA342754230 | PKLR | c.838G>A (p.Val280Met) c.745G>A (p.Val249Met) c.997G>A (p.Val333Met) c.646G>A (p.Val216Met) | dbSNP gnomAD v4 |
1 | g.155294610C>A | CA421245647 | PKLR | c.837G>T (p.Gly279=) c.744G>T (p.Gly248=) c.996G>T (p.Gly332=) c.645G>T (p.Gly215=) | |
1 | g.155294610C= | CA1200112224 | PKLR | c.837G= (p.Gly279=) c.744G= (p.Gly248=) c.996G= (p.Gly332=) c.645G= (p.Gly215=) | |
1 | g.155294610C>G | CA1144194 | PKLR | c.837G>C (p.Gly279=) c.744G>C (p.Gly248=) c.996G>C (p.Gly332=) c.645G>C (p.Gly215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294610C>T | CA421245648 | PKLR | c.837G>A (p.Gly279=) c.744G>A (p.Gly248=) c.996G>A (p.Gly332=) c.645G>A (p.Gly215=) | dbSNP gnomAD v4 |
1 | g.155294611C>A | CA30903282 | PKLR | c.836G>T (p.Gly279Val) c.743G>T (p.Gly248Val) c.995G>T (p.Gly332Val) c.644G>T (p.Gly215Val) | dbSNP |
1 | g.155294611C= | CA1200112225 | PKLR | c.836G= (p.Gly279=) c.743G= (p.Gly248=) c.995G= (p.Gly332=) c.644G= (p.Gly215=) | |
1 | g.155294611C>G | CA342754239 | PKLR | c.836G>C (p.Gly279Ala) c.743G>C (p.Gly248Ala) c.995G>C (p.Gly332Ala) c.644G>C (p.Gly215Ala) | |
1 | g.155294611C>T | CA1144195 | PKLR | c.836G>A (p.Gly279Glu) c.743G>A (p.Gly248Glu) c.995G>A (p.Gly332Glu) c.644G>A (p.Gly215Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294612C>A | CA342754242 | PKLR | c.835G>T (p.Gly279Trp) c.742G>T (p.Gly248Trp) c.994G>T (p.Gly332Trp) c.643G>T (p.Gly215Trp) | |
1 | g.155294612C= | CA1200112226 | PKLR | c.835G= (p.Gly279=) c.742G= (p.Gly248=) c.994G= (p.Gly332=) c.643G= (p.Gly215=) | |
1 | g.155294612C>G | CA342754244 | PKLR | c.835G>C (p.Gly279Arg) c.742G>C (p.Gly248Arg) c.994G>C (p.Gly332Arg) c.643G>C (p.Gly215Arg) | |
1 | g.155294612C>T | CA342754243 | PKLR | c.835G>A (p.Gly279Arg) c.742G>A (p.Gly248Arg) c.994G>A (p.Gly332Arg) c.643G>A (p.Gly215Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294613A= | CA1200112227 | PKLR | c.834T= (p.His278=) c.741T= (p.His247=) c.993T= (p.His331=) c.642T= (p.His214=) | |
1 | g.155294613A>C | CA342754246 | PKLR | c.834T>G (p.His278Gln) c.741T>G (p.His247Gln) c.993T>G (p.His331Gln) c.642T>G (p.His214Gln) | |
1 | g.155294613A>G | CA1144196 | PKLR | c.834T>C (p.His278=) c.741T>C (p.His247=) c.993T>C (p.His331=) c.642T>C (p.His214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294613A>T | CA342754248 | PKLR | c.834T>A (p.His278Gln) c.741T>A (p.His247Gln) c.993T>A (p.His331Gln) c.642T>A (p.His214Gln) | |
1 | g.155294614T>A | CA342754251 | PKLR | c.833A>T (p.His278Leu) c.740A>T (p.His247Leu) c.992A>T (p.His331Leu) c.641A>T (p.His214Leu) | gnomAD v4 |
1 | g.155294614T>C | CA342754253 | PKLR | c.833A>G (p.His278Arg) c.740A>G (p.His247Arg) c.992A>G (p.His331Arg) c.641A>G (p.His214Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294614T>G | CA342754255 | PKLR | c.833A>C (p.His278Pro) c.740A>C (p.His247Pro) c.992A>C (p.His331Pro) c.641A>C (p.His214Pro) | |
1 | g.155294614T= | CA1200112228 | PKLR | c.833A= (p.His278=) c.740A= (p.His247=) c.992A= (p.His331=) c.641A= (p.His214=) | |
1 | g.155294615G>A | CA342754257 | PKLR | c.832C>T (p.His278Tyr) c.739C>T (p.His247Tyr) c.991C>T (p.His331Tyr) c.640C>T (p.His214Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294615G>C | CA342754260 | PKLR | c.832C>G (p.His278Asp) c.739C>G (p.His247Asp) c.991C>G (p.His331Asp) c.640C>G (p.His214Asp) | |
1 | g.155294615G= | CA1200112229 | PKLR | c.832C= (p.His278=) c.739C= (p.His247=) c.991C= (p.His331=) c.640C= (p.His214=) | |
1 | g.155294615G>T | CA342754261 | PKLR | c.832C>A (p.His278Asn) c.739C>A (p.His247Asn) c.991C>A (p.His331Asn) c.640C>A (p.His214Asn) | |
1 | g.155294616C>A | CA342754263 | PKLR | c.831G>T (p.Glu277Asp) c.738G>T (p.Glu246Asp) c.990G>T (p.Glu330Asp) c.639G>T (p.Glu213Asp) | |
1 | g.155294616C>G | CA342754264 | PKLR | c.831G>C (p.Glu277Asp) c.738G>C (p.Glu246Asp) c.990G>C (p.Glu330Asp) c.639G>C (p.Glu213Asp) | |
1 | g.155294616C>T | CA421245653 | PKLR | c.831G>A (p.Glu277=) c.738G>A (p.Glu246=) c.990G>A (p.Glu330=) c.639G>A (p.Glu213=) | gnomAD v4 |
1 | g.155294617T>A | CA342754265 | PKLR | c.830A>T (p.Glu277Val) c.737A>T (p.Glu246Val) c.989A>T (p.Glu330Val) c.638A>T (p.Glu213Val) | |
1 | g.155294617T>C | CA342754266 | PKLR | c.830A>G (p.Glu277Gly) c.737A>G (p.Glu246Gly) c.989A>G (p.Glu330Gly) c.638A>G (p.Glu213Gly) | |
1 | g.155294617T>G | CA342754267 | PKLR | c.830A>C (p.Glu277Ala) c.737A>C (p.Glu246Ala) c.989A>C (p.Glu330Ala) c.638A>C (p.Glu213Ala) | |
1 | g.155294618C>A | CA342754269 | PKLR | c.829G>T (p.Glu277Ter) c.736G>T (p.Glu246Ter) c.988G>T (p.Glu330Ter) c.637G>T (p.Glu213Ter) | ClinVar |
1 | g.155294618C= | CA1142193689 | PKLR | c.829G= (p.Glu277=) c.736G= (p.Glu246=) c.988G= (p.Glu330=) c.637G= (p.Glu213=) | |
1 | g.155294618C>G | CA342754268 | PKLR | c.829G>C (p.Glu277Gln) c.736G>C (p.Glu246Gln) c.988G>C (p.Glu330Gln) c.637G>C (p.Glu213Gln) | |
1 | g.155294618C>T | CA1144197 | PKLR | c.829G>A (p.Glu277Lys) c.736G>A (p.Glu246Lys) c.988G>A (p.Glu330Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294619C>A | CA421245658 | PKLR | c.828G>T (p.Val276=) c.735G>T (p.Val245=) c.987G>T (p.Val329=) c.636G>T (p.Val212=) | |
1 | g.155294619C= | CA1200112230 | PKLR | c.828G= (p.Val276=) c.735G= (p.Val245=) c.987G= (p.Val329=) c.636G= (p.Val212=) | |
1 | g.155294619C>G | CA421245659 | PKLR | c.828G>C (p.Val276=) c.735G>C (p.Val245=) c.987G>C (p.Val329=) c.636G>C (p.Val212=) | |
1 | g.155294619C>T | CA421245660 | PKLR | c.828G>A (p.Val276=) c.735G>A (p.Val245=) c.987G>A (p.Val329=) c.636G>A (p.Val212=) | dbSNP |
1 | g.155294620A= | CA1200112232 | PKLR | c.827T= (p.Val276=) c.734T= (p.Val245=) c.986T= (p.Val329=) c.635T= (p.Val212=) | |
1 | g.155294620A>C | CA342754270 | PKLR | c.827T>G (p.Val276Gly) c.734T>G (p.Val245Gly) c.986T>G (p.Val329Gly) c.635T>G (p.Val212Gly) | |
1 | g.155294620A>G | CA342754271 | PKLR | c.827T>C (p.Val276Ala) c.734T>C (p.Val245Ala) c.986T>C (p.Val329Ala) c.635T>C (p.Val212Ala) | gnomAD v4 |
1 | g.155294620A>T | CA342754272 | PKLR | c.827T>A (p.Val276Glu) c.734T>A (p.Val245Glu) c.986T>A (p.Val329Glu) c.635T>A (p.Val212Glu) | dbSNP |
1 | g.155294620_155294621delinsAC | CA1200112231 | PKLR | c.826_827delinsGT (p.Val276=) c.733_734delinsGT (p.Val245=) c.985_986delinsGT (p.Val329=) c.634_635delinsGT (p.Val212=) | |
1 | g.155294621C>A | CA342754273 | PKLR | c.826G>T (p.Val276Leu) c.733G>T (p.Val245Leu) c.985G>T (p.Val329Leu) c.634G>T (p.Val212Leu) | |
1 | g.155294621C= | CA1200112233 | PKLR | c.826G= (p.Val276=) c.733G= (p.Val245=) c.985G= (p.Val329=) c.634G= (p.Val212=) | |
1 | g.155294621C>G | CA342754274 | PKLR | c.826G>C (p.Val276Leu) c.733G>C (p.Val245Leu) c.985G>C (p.Val329Leu) c.634G>C (p.Val212Leu) | |
1 | g.155294621C>T | CA1144199 | PKLR | c.826G>A (p.Val276Met) c.733G>A (p.Val245Met) c.985G>A (p.Val329Met) c.634G>A (p.Val212Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294624_155294625insATGCTCCTCCCC | CA2586967537 | PKLR | c.826_827insAGGAGCATGGGG (p.Gly275_Val276insGluGluHisGly) c.733_734insAGGAGCATGGGG (p.Gly244_Val245insGluGluHisGly) c.985_986insAGGAGCATGGGG (p.Gly328_Val329insGluGluHisGly) c.634_635insAGGAGCATGGGG (p.Gly211_Val212insGluGluHisGly) | gnomAD v4 |
1 | g.155294624del | CA1144198 | PKLR | c.826del (p.Val276TrpfsTer?) c.733del (p.Val245TrpfsTer?) c.985del (p.Val329TrpfsTer?) c.634del (p.Val212TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294622C>A | CA421245667 | PKLR | c.825G>T (p.Gly275=) c.732G>T (p.Gly244=) c.984G>T (p.Gly328=) c.633G>T (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>G | CA421245664 | PKLR | c.825G>C (p.Gly275=) c.732G>C (p.Gly244=) c.984G>C (p.Gly328=) c.633G>C (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>T | CA421245666 | PKLR | c.825G>A (p.Gly275=) c.732G>A (p.Gly244=) c.984G>A (p.Gly328=) c.633G>A (p.Gly211=) | |
1 | g.155294623C>A | CA342754275 | PKLR | c.824G>T (p.Gly275Val) c.731G>T (p.Gly244Val) c.983G>T (p.Gly328Val) c.632G>T (p.Gly211Val) | |
1 | g.155294623C>G | CA342754276 | PKLR | c.824G>C (p.Gly275Ala) c.731G>C (p.Gly244Ala) c.983G>C (p.Gly328Ala) c.632G>C (p.Gly211Ala) | COSMIC |
1 | g.155294623C>T | CA342754277 | PKLR | c.824G>A (p.Gly275Glu) c.731G>A (p.Gly244Glu) c.983G>A (p.Gly328Glu) c.632G>A (p.Gly211Glu) | |
1 | g.155294624C>A | CA342754278 | PKLR | c.823G>T (p.Gly275Trp) c.730G>T (p.Gly244Trp) c.982G>T (p.Gly328Trp) c.631G>T (p.Gly211Trp) | |
1 | g.155294624C= | CA1148471349 | PKLR | c.823G= (p.Gly275=) c.730G= (p.Gly244=) c.982G= (p.Gly328=) c.631G= (p.Gly211=) | |
1 | g.155294624C>G | CA1144200 | PKLR | c.823G>C (p.Gly275Arg) c.730G>C (p.Gly244Arg) c.982G>C (p.Gly328Arg) c.631G>C (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294624C>T | CA1144201 | PKLR | c.823G>A (p.Gly275Arg) c.730G>A (p.Gly244Arg) c.982G>A (p.Gly328Arg) c.631G>A (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294625G>A | CA421245670 | PKLR | c.822C>T (p.Phe274=) c.729C>T (p.Phe243=) c.981C>T (p.Phe327=) c.630C>T (p.Phe210=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294625G>C | CA342754279 | PKLR | c.822C>G (p.Phe274Leu) c.729C>G (p.Phe243Leu) c.981C>G (p.Phe327Leu) c.630C>G (p.Phe210Leu) | |
1 | g.155294625G= | CA1200112234 | PKLR | c.822C= (p.Phe274=) c.729C= (p.Phe243=) c.981C= (p.Phe327=) c.630C= (p.Phe210=) | |
1 | g.155294625G>T | CA342754280 | PKLR | c.822C>A (p.Phe274Leu) c.729C>A (p.Phe243Leu) c.981C>A (p.Phe327Leu) c.630C>A (p.Phe210Leu) | |
1 | g.155294626A>C | CA342754281 | PKLR | c.821T>G (p.Phe274Cys) c.728T>G (p.Phe243Cys) c.980T>G (p.Phe327Cys) c.629T>G (p.Phe210Cys) | |
1 | g.155294626A>G | CA342754282 | PKLR | c.821T>C (p.Phe274Ser) c.728T>C (p.Phe243Ser) c.980T>C (p.Phe327Ser) c.629T>C (p.Phe210Ser) | |
1 | g.155294626A>T | CA342754283 | PKLR | c.821T>A (p.Phe274Tyr) c.728T>A (p.Phe243Tyr) c.980T>A (p.Phe327Tyr) c.629T>A (p.Phe210Tyr) | |
1 | g.155294627A>C | CA342754284 | PKLR | c.820T>G (p.Phe274Val) c.727T>G (p.Phe243Val) c.979T>G (p.Phe327Val) c.628T>G (p.Phe210Val) | |
1 | g.155294627A>G | CA342754285 | PKLR | c.820T>C (p.Phe274Leu) c.727T>C (p.Phe243Leu) c.979T>C (p.Phe327Leu) c.628T>C (p.Phe210Leu) | |
1 | g.155294627A>T | CA342754286 | PKLR | c.820T>A (p.Phe274Ile) c.727T>A (p.Phe243Ile) c.979T>A (p.Phe327Ile) c.628T>A (p.Phe210Ile) | |
1 | g.155294628G>A | CA421245674 | PKLR | c.819C>T (p.Arg273=) c.726C>T (p.Arg242=) c.978C>T (p.Arg326=) c.627C>T (p.Arg209=) | |
1 | g.155294628G>C | CA421245675 | PKLR | c.819C>G (p.Arg273=) c.726C>G (p.Arg242=) c.978C>G (p.Arg326=) c.627C>G (p.Arg209=) | |
1 | g.155294628G>T | CA421245676 | PKLR | c.819C>A (p.Arg273=) c.726C>A (p.Arg242=) c.978C>A (p.Arg326=) c.627C>A (p.Arg209=) | |
1 | g.155294629C>A | CA342754290 | PKLR | c.818G>T (p.Arg273Leu) c.725G>T (p.Arg242Leu) c.977G>T (p.Arg326Leu) c.626G>T (p.Arg209Leu) | |
1 | g.155294629C= | CA1141802474 | PKLR | c.818G= (p.Arg273=) c.725G= (p.Arg242=) c.977G= (p.Arg326=) c.626G= (p.Arg209=) | |
1 | g.155294629C>G | CA342754291 | PKLR | c.818G>C (p.Arg273Pro) c.725G>C (p.Arg242Pro) c.977G>C (p.Arg326Pro) c.626G>C (p.Arg209Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294629C>T | CA1144202 | PKLR | c.818G>A (p.Arg273His) c.725G>A (p.Arg242His) c.977G>A (p.Arg326His) c.626G>A (p.Arg209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294630G>A | CA1144203 | PKLR | c.817C>T (p.Arg273Cys) c.724C>T (p.Arg242Cys) c.976C>T (p.Arg326Cys) c.625C>T (p.Arg209Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294630G>C | CA342754298 | PKLR | c.817C>G (p.Arg273Gly) c.724C>G (p.Arg242Gly) c.976C>G (p.Arg326Gly) c.625C>G (p.Arg209Gly) | |
1 | g.155294630G= | CA1148560049 | PKLR | c.817C= (p.Arg273=) c.724C= (p.Arg242=) c.976C= (p.Arg326=) c.625C= (p.Arg209=) | |
1 | g.155294630G>T | CA342754295 | PKLR | c.817C>A (p.Arg273Ser) c.724C>A (p.Arg242Ser) c.976C>A (p.Arg326Ser) c.625C>A (p.Arg209Ser) | gnomAD v4 |
1 | g.155294631C>A | CA421245681 | PKLR | c.816G>T (p.Leu272=) c.723G>T (p.Leu241=) c.975G>T (p.Leu325=) c.624G>T (p.Leu208=) | |
1 | g.155294631C>G | CA421245679 | PKLR | c.816G>C (p.Leu272=) c.723G>C (p.Leu241=) c.975G>C (p.Leu325=) c.624G>C (p.Leu208=) | |
1 | g.155294631C>T | CA421245680 | PKLR | c.816G>A (p.Leu272=) c.723G>A (p.Leu241=) c.975G>A (p.Leu325=) c.624G>A (p.Leu208=) | |
1 | g.155294632A= | CA1200112235 | PKLR | c.815T= (p.Leu272=) c.722T= (p.Leu241=) c.974T= (p.Leu325=) c.623T= (p.Leu208=) | |
1 | g.155294632A>C | CA342754301 | PKLR | c.815T>G (p.Leu272Arg) c.722T>G (p.Leu241Arg) c.974T>G (p.Leu325Arg) c.623T>G (p.Leu208Arg) | |
1 | g.155294632A>G | CA342754303 | PKLR | c.815T>C (p.Leu272Pro) c.722T>C (p.Leu241Pro) c.974T>C (p.Leu325Pro) c.623T>C (p.Leu208Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294632A>T | CA342754305 | PKLR | c.815T>A (p.Leu272Gln) c.722T>A (p.Leu241Gln) c.974T>A (p.Leu325Gln) c.623T>A (p.Leu208Gln) | |
1 | g.155294633G>A | CA421245682 | PKLR | c.814C>T (p.Leu272=) c.721C>T (p.Leu241=) c.973C>T (p.Leu325=) c.622C>T (p.Leu208=) | |
1 | g.155294633G>C | CA1144204 | PKLR | c.814C>G (p.Leu272Val) c.721C>G (p.Leu241Val) c.973C>G (p.Leu325Val) c.622C>G (p.Leu208Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294633G= | CA1142192953 | PKLR | c.814C= (p.Leu272=) c.721C= (p.Leu241=) c.973C= (p.Leu325=) c.622C= (p.Leu208=) | |
1 | g.155294633G>T | CA342754308 | PKLR | c.814C>A (p.Leu272Met) c.721C>A (p.Leu241Met) c.973C>A (p.Leu325Met) c.622C>A (p.Leu208Met) | |
1 | g.155294634G>A | CA421245685 | PKLR | c.813C>T (p.Asp271=) c.720C>T (p.Asp240=) c.972C>T (p.Asp324=) c.621C>T (p.Asp207=) | |
1 | g.155294634G>C | CA342754312 | PKLR | c.813C>G (p.Asp271Glu) c.720C>G (p.Asp240Glu) c.972C>G (p.Asp324Glu) c.621C>G (p.Asp207Glu) | |
1 | g.155294634G>T | CA342754311 | PKLR | c.813C>A (p.Asp271Glu) c.720C>A (p.Asp240Glu) c.972C>A (p.Asp324Glu) c.621C>A (p.Asp207Glu) | gnomAD v4 |
1 | g.155294635T>A | CA342754316 | PKLR | c.812A>T (p.Asp271Val) c.719A>T (p.Asp240Val) c.971A>T (p.Asp324Val) c.620A>T (p.Asp207Val) | |
1 | g.155294635T>C | CA342754317 | PKLR | c.812A>G (p.Asp271Gly) c.719A>G (p.Asp240Gly) c.971A>G (p.Asp324Gly) c.620A>G (p.Asp207Gly) | |
1 | g.155294635T>G | CA342754319 | PKLR | c.812A>C (p.Asp271Ala) c.719A>C (p.Asp240Ala) c.971A>C (p.Asp324Ala) c.620A>C (p.Asp207Ala) | |
1 | g.155294636C>A | CA342754321 | PKLR | c.811G>T (p.Asp271Tyr) c.718G>T (p.Asp240Tyr) c.970G>T (p.Asp324Tyr) c.619G>T (p.Asp207Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294636C= | CA1200112236 | PKLR | c.811G= (p.Asp271=) c.718G= (p.Asp240=) c.970G= (p.Asp324=) c.619G= (p.Asp207=) | |
1 | g.155294636C>G | CA342754323 | PKLR | c.811G>C (p.Asp271His) c.718G>C (p.Asp240His) c.970G>C (p.Asp324His) c.619G>C (p.Asp207His) | |
1 | g.155294636C>T | CA342754325 | PKLR | c.811G>A (p.Asp271Asn) c.718G>A (p.Asp240Asn) c.970G>A (p.Asp324Asn) c.619G>A (p.Asp207Asn) | |
1 | g.155294637T>A | CA421245695 | PKLR | c.810A>T (p.Arg270=) c.717A>T (p.Arg239=) c.969A>T (p.Arg323=) c.618A>T (p.Arg206=) | |
1 | g.155294637T>C | CA421245690 | PKLR | c.810A>G (p.Arg270=) c.717A>G (p.Arg239=) c.969A>G (p.Arg323=) c.618A>G (p.Arg206=) | |
1 | g.155294637T>G | CA421245692 | PKLR | c.810A>C (p.Arg270=) c.717A>C (p.Arg239=) c.969A>C (p.Arg323=) c.618A>C (p.Arg206=) | gnomAD v4 |
1 | g.155294638C>A | CA342754332 | PKLR | c.809G>T (p.Arg270Leu) c.716G>T (p.Arg239Leu) c.968G>T (p.Arg323Leu) c.617G>T (p.Arg206Leu) | dbSNP gnomAD v4 |
1 | g.155294638C= | CA1200112237 | PKLR | c.809G= (p.Arg270=) c.716G= (p.Arg239=) c.968G= (p.Arg323=) c.617G= (p.Arg206=) | |
1 | g.155294638C>G | CA342754330 | PKLR | c.809G>C (p.Arg270Pro) c.716G>C (p.Arg239Pro) c.968G>C (p.Arg323Pro) c.617G>C (p.Arg206Pro) | gnomAD v4 |
1 | g.155294638C>T | CA342754327 | PKLR | c.809G>A (p.Arg270Gln) c.716G>A (p.Arg239Gln) c.968G>A (p.Arg323Gln) c.617G>A (p.Arg206Gln) | gnomAD v4 |
1 | g.155294639G>A | CA342754334 | PKLR | c.808C>T (p.Arg270Ter) c.715C>T (p.Arg239Ter) c.967C>T (p.Arg323Ter) c.616C>T (p.Arg206Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294639G>C | CA1144206 | PKLR | c.808C>G (p.Arg270Gly) c.715C>G (p.Arg239Gly) c.967C>G (p.Arg323Gly) c.616C>G (p.Arg206Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294639G= | CA1200112238 | PKLR | c.808C= (p.Arg270=) c.715C= (p.Arg239=) c.967C= (p.Arg323=) c.616C= (p.Arg206=) | |
1 | g.155294639G>T | CA1144205 | PKLR | c.808C>A (p.Arg270=) c.715C>A (p.Arg239=) c.967C>A (p.Arg323=) c.616C>A (p.Arg206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294640G>A | CA421245696 | PKLR | c.807C>T (p.Val269=) c.714C>T (p.Val238=) c.966C>T (p.Val322=) c.615C>T (p.Val205=) | |
1 | g.155294640G>C | CA421245697 | PKLR | c.807C>G (p.Val269=) c.714C>G (p.Val238=) c.966C>G (p.Val322=) c.615C>G (p.Val205=) | |
1 | g.155294640G>T | CA421245698 | PKLR | c.807C>A (p.Val269=) c.714C>A (p.Val238=) c.966C>A (p.Val322=) c.615C>A (p.Val205=) | |
1 | g.155294641A= | CA1200112239 | PKLR | c.806T= (p.Val269=) c.713T= (p.Val238=) c.965T= (p.Val322=) c.614T= (p.Val205=) | |
1 | g.155294641A>C | CA342754339 | PKLR | c.806T>G (p.Val269Gly) c.713T>G (p.Val238Gly) c.965T>G (p.Val322Gly) c.614T>G (p.Val205Gly) | |
1 | g.155294641A>G | CA1144207 | PKLR | c.806T>C (p.Val269Ala) c.713T>C (p.Val238Ala) c.965T>C (p.Val322Ala) c.614T>C (p.Val205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294641A>T | CA342754342 | PKLR | c.806T>A (p.Val269Asp) c.713T>A (p.Val238Asp) c.965T>A (p.Val322Asp) c.614T>A (p.Val205Asp) | dbSNP gnomAD v4 |
1 | g.155294641_155294650delinsACGTCCTGCT | CA1200112240 | PKLR | c.797_806delinsAGCAGGACGT (p.Glu266=) c.704_713delinsAGCAGGACGT (p.Glu235=) c.956_965delinsAGCAGGACGT (p.Glu319=) c.605_614delinsAGCAGGACGT (p.Glu202=) | |
1 | g.155294642C>A | CA1144208 | PKLR | c.805G>T (p.Val269Phe) c.712G>T (p.Val238Phe) c.964G>T (p.Val322Phe) c.613G>T (p.Val205Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294642C= | CA1143434322 | PKLR | c.805G= (p.Val269=) c.712G= (p.Val238=) c.964G= (p.Val322=) c.613G= (p.Val205=) | |
1 | g.155294642C>G | CA342754345 | PKLR | c.805G>C (p.Val269Leu) c.712G>C (p.Val238Leu) c.964G>C (p.Val322Leu) c.613G>C (p.Val205Leu) | |
1 | g.155294642C>T | CA342754346 | PKLR | c.805G>A (p.Val269Ile) c.712G>A (p.Val238Ile) c.964G>A (p.Val322Ile) c.613G>A (p.Val205Ile) | gnomAD v4 COSMIC |
1 | g.155294644_155294652del | CA1007987022 | PKLR | c.797_805del (p.Glu266_Asp268del) c.704_712del (p.Glu235_Asp237del) c.956_964del (p.Glu319_Asp321del) c.605_613del (p.Glu202_Asp204del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294643G>A | CA1144209 | PKLR | c.804C>T (p.Asp268=) c.711C>T (p.Asp237=) c.963C>T (p.Asp321=) c.612C>T (p.Asp204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294643G>C | CA342754350 | PKLR | c.804C>G (p.Asp268Glu) c.711C>G (p.Asp237Glu) c.963C>G (p.Asp321Glu) c.612C>G (p.Asp204Glu) | |
1 | g.155294643G= | CA1148006379 | PKLR | c.804C= (p.Asp268=) c.711C= (p.Asp237=) c.963C= (p.Asp321=) c.612C= (p.Asp204=) | |
1 | g.155294643G>T | CA342754352 | PKLR | c.804C>A (p.Asp268Glu) c.711C>A (p.Asp237Glu) c.963C>A (p.Asp321Glu) c.612C>A (p.Asp204Glu) | dbSNP gnomAD v4 |
1 | g.155294644T>A | CA342754353 | PKLR | c.803A>T (p.Asp268Val) c.710A>T (p.Asp237Val) c.962A>T (p.Asp321Val) c.611A>T (p.Asp204Val) | |
1 | g.155294644T>C | CA342754355 | PKLR | c.803A>G (p.Asp268Gly) c.710A>G (p.Asp237Gly) c.962A>G (p.Asp321Gly) c.611A>G (p.Asp204Gly) | |
1 | g.155294644T>G | CA342754357 | PKLR | c.803A>C (p.Asp268Ala) c.710A>C (p.Asp237Ala) c.962A>C (p.Asp321Ala) c.611A>C (p.Asp204Ala) | |
1 | g.155294645C>A | CA342754363 | PKLR | c.802G>T (p.Asp268Tyr) c.709G>T (p.Asp237Tyr) c.961G>T (p.Asp321Tyr) c.610G>T (p.Asp204Tyr) | |
1 | g.155294645C>G | CA342754360 | PKLR | c.802G>C (p.Asp268His) c.709G>C (p.Asp237His) c.961G>C (p.Asp321His) c.610G>C (p.Asp204His) | |
1 | g.155294645C>T | CA342754362 | PKLR | c.802G>A (p.Asp268Asn) c.709G>A (p.Asp237Asn) c.961G>A (p.Asp321Asn) c.610G>A (p.Asp204Asn) | |
1 | g.155294645_155294646insT | CA2586967538 | PKLR | c.801_802insA (p.Asp268ArgfsTer?) c.708_709insA (p.Asp237ArgfsTer?) c.960_961insA (p.Asp321ArgfsTer?) c.609_610insA (p.Asp204ArgfsTer?) | |
1 | g.155294646C>A | CA342754366 | PKLR | c.801G>T (p.Gln267His) c.708G>T (p.Gln236His) c.960G>T (p.Gln320His) c.609G>T (p.Gln203His) | |
1 | g.155294646C>G | CA342754368 | PKLR | c.801G>C (p.Gln267His) c.708G>C (p.Gln236His) c.960G>C (p.Gln320His) c.609G>C (p.Gln203His) | |
1 | g.155294646C>T | CA421245702 | PKLR | c.801G>A (p.Gln267=) c.708G>A (p.Gln236=) c.960G>A (p.Gln320=) c.609G>A (p.Gln203=) | |
1 | g.155294647T>A | CA342754370 | PKLR | c.800A>T (p.Gln267Leu) c.707A>T (p.Gln236Leu) c.959A>T (p.Gln320Leu) c.608A>T (p.Gln203Leu) | |
1 | g.155294647T>C | CA342754372 | PKLR | c.800A>G (p.Gln267Arg) c.707A>G (p.Gln236Arg) c.959A>G (p.Gln320Arg) c.608A>G (p.Gln203Arg) | |
1 | g.155294647T>G | CA342754374 | PKLR | c.800A>C (p.Gln267Pro) c.707A>C (p.Gln236Pro) c.959A>C (p.Gln320Pro) c.608A>C (p.Gln203Pro) | |
1 | g.155294648G>A | CA342754375 | PKLR | c.799C>T (p.Gln267Ter) c.706C>T (p.Gln236Ter) c.958C>T (p.Gln320Ter) c.607C>T (p.Gln203Ter) | ClinVar dbSNP |
1 | g.155294648G>C | CA342754377 | PKLR | c.799C>G (p.Gln267Glu) c.706C>G (p.Gln236Glu) c.958C>G (p.Gln320Glu) c.607C>G (p.Gln203Glu) | |
1 | g.155294648G= | CA1200112241 | PKLR | c.799C= (p.Gln267=) c.706C= (p.Gln236=) c.958C= (p.Gln320=) c.607C= (p.Gln203=) | |
1 | g.155294648G>T | CA1144210 | PKLR | c.799C>A (p.Gln267Lys) c.706C>A (p.Gln236Lys) c.958C>A (p.Gln320Lys) c.607C>A (p.Gln203Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294649_155294661dup | CA2648269429 | PKLR | c.787_799dup (p.Gln267ArgfsTer?) c.694_706dup (p.Gln236ArgfsTer?) c.946_958dup (p.Gln320ArgfsTer?) c.595_607dup (p.Gln203ArgfsTer?) | gnomAD v4 |
1 | g.155294649C>A | CA342754380 | PKLR | c.798G>T (p.Glu266Asp) c.705G>T (p.Glu235Asp) c.957G>T (p.Glu319Asp) c.606G>T (p.Glu202Asp) | |
1 | g.155294649C>G | CA342754382 | PKLR | c.798G>C (p.Glu266Asp) c.705G>C (p.Glu235Asp) c.957G>C (p.Glu319Asp) c.606G>C (p.Glu202Asp) | |
1 | g.155294649C>T | CA421245706 | PKLR | c.798G>A (p.Glu266=) c.705G>A (p.Glu235=) c.957G>A (p.Glu319=) c.606G>A (p.Glu202=) | gnomAD v4 |
1 | g.155294650T>A | CA342754386 | PKLR | c.797A>T (p.Glu266Val) c.704A>T (p.Glu235Val) c.956A>T (p.Glu319Val) c.605A>T (p.Glu202Val) | gnomAD v4 |
1 | g.155294650T>C | CA342754385 | PKLR | c.797A>G (p.Glu266Gly) c.704A>G (p.Glu235Gly) c.956A>G (p.Glu319Gly) c.605A>G (p.Glu202Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294650T>G | CA342754384 | PKLR | c.797A>C (p.Glu266Ala) c.704A>C (p.Glu235Ala) c.956A>C (p.Glu319Ala) c.605A>C (p.Glu202Ala) | |
1 | g.155294650T= | CA1200112242 | PKLR | c.797A= (p.Glu266=) c.704A= (p.Glu235=) c.956A= (p.Glu319=) c.605A= (p.Glu202=) | |
1 | g.155294651C>A | CA342754387 | PKLR | c.796G>T (p.Glu266Ter) c.703G>T (p.Glu235Ter) c.955G>T (p.Glu319Ter) c.604G>T (p.Glu202Ter) | |
1 | g.155294651C= | CA1200112243 | PKLR | c.796G= (p.Glu266=) c.703G= (p.Glu235=) c.955G= (p.Glu319=) c.604G= (p.Glu202=) | |
1 | g.155294651C>G | CA342754388 | PKLR | c.796G>C (p.Glu266Gln) c.703G>C (p.Glu235Gln) c.955G>C (p.Glu319Gln) c.604G>C (p.Glu202Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294651C>T | CA342754390 | PKLR | c.796G>A (p.Glu266Lys) c.703G>A (p.Glu235Lys) c.955G>A (p.Glu319Lys) c.604G>A (p.Glu202Lys) | gnomAD v4 |
1 | g.155294652G>A | CA421245709 | PKLR | c.795C>T (p.Ser265=) c.702C>T (p.Ser234=) c.954C>T (p.Ser318=) c.603C>T (p.Ser201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294652G>C | CA421245710 | PKLR | c.795C>G (p.Ser265=) c.702C>G (p.Ser234=) c.954C>G (p.Ser318=) c.603C>G (p.Ser201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294652G= | CA1200112244 | PKLR | c.795C= (p.Ser265=) c.702C= (p.Ser234=) c.954C= (p.Ser318=) c.603C= (p.Ser201=) | |
1 | g.155294652G>T | CA421245711 | PKLR | c.795C>A (p.Ser265=) c.702C>A (p.Ser234=) c.954C>A (p.Ser318=) c.603C>A (p.Ser201=) | gnomAD v4 |
1 | g.155294653G>A | CA342754393 | PKLR | c.794C>T (p.Ser265Phe) c.701C>T (p.Ser234Phe) c.953C>T (p.Ser318Phe) c.602C>T (p.Ser201Phe) | |
1 | g.155294653G>C | CA30903364 | PKLR | c.794C>G (p.Ser265Cys) c.701C>G (p.Ser234Cys) c.953C>G (p.Ser318Cys) c.602C>G (p.Ser201Cys) | dbSNP |
1 | g.155294653G= | CA1200112245 | PKLR | c.794C= (p.Ser265=) c.701C= (p.Ser234=) c.953C= (p.Ser318=) c.602C= (p.Ser201=) | |
1 | g.155294653G>T | CA342754395 | PKLR | c.794C>A (p.Ser265Tyr) c.701C>A (p.Ser234Tyr) c.953C>A (p.Ser318Tyr) c.602C>A (p.Ser201Tyr) | |
1 | g.155294654A>C | CA342754397 | PKLR | c.793T>G (p.Ser265Ala) c.700T>G (p.Ser234Ala) c.952T>G (p.Ser318Ala) c.601T>G (p.Ser201Ala) | |
1 | g.155294654A>G | CA342754398 | PKLR | c.793T>C (p.Ser265Pro) c.700T>C (p.Ser234Pro) c.952T>C (p.Ser318Pro) c.601T>C (p.Ser201Pro) | |
1 | g.155294654A>T | CA342754401 | PKLR | c.793T>A (p.Ser265Thr) c.700T>A (p.Ser234Thr) c.952T>A (p.Ser318Thr) c.601T>A (p.Ser201Thr) | |
1 | g.155294655C>A | CA421245712 | PKLR | c.792G>T (p.Leu264=) c.699G>T (p.Leu233=) c.951G>T (p.Leu317=) c.600G>T (p.Leu200=) | |
1 | g.155294655C= | CA1200112246 | PKLR | c.792G= (p.Leu264=) c.699G= (p.Leu233=) c.951G= (p.Leu317=) c.600G= (p.Leu200=) | |
1 | g.155294655C>G | CA421245713 | PKLR | c.792G>C (p.Leu264=) c.699G>C (p.Leu233=) c.951G>C (p.Leu317=) c.600G>C (p.Leu200=) | dbSNP gnomAD v4 |
1 | g.155294655C>T | CA421245714 | PKLR | c.792G>A (p.Leu264=) c.699G>A (p.Leu233=) c.951G>A (p.Leu317=) c.600G>A (p.Leu200=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294656_155294660del | CA2586967539 | PKLR | c.788_792del (p.Gly263ValfsTer?) c.695_699del (p.Gly232ValfsTer?) c.947_951del (p.Gly316ValfsTer?) c.596_600del (p.Gly199ValfsTer?) | |
1 | g.155294656A>C | CA342754403 | PKLR | c.791T>G (p.Leu264Arg) c.698T>G (p.Leu233Arg) c.950T>G (p.Leu317Arg) c.599T>G (p.Leu200Arg) | |
1 | g.155294656A>G | CA342754405 | PKLR | c.791T>C (p.Leu264Pro) c.698T>C (p.Leu233Pro) c.950T>C (p.Leu317Pro) c.599T>C (p.Leu200Pro) | gnomAD v4 |
1 | g.155294656A>T | CA342754412 | PKLR | c.791T>A (p.Leu264Gln) c.698T>A (p.Leu233Gln) c.950T>A (p.Leu317Gln) c.599T>A (p.Leu200Gln) | |
1 | g.155294657G>A | CA1144211 | PKLR | c.790C>T (p.Leu264=) c.697C>T (p.Leu233=) c.949C>T (p.Leu317=) c.598C>T (p.Leu200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294657G>C | CA342754418 | PKLR | c.790C>G (p.Leu264Val) c.697C>G (p.Leu233Val) c.949C>G (p.Leu317Val) c.598C>G (p.Leu200Val) | |
1 | g.155294657G= | CA1143386169 | PKLR | c.790C= (p.Leu264=) c.697C= (p.Leu233=) c.949C= (p.Leu317=) c.598C= (p.Leu200=) | |
1 | g.155294657G>T | CA342754415 | PKLR | c.790C>A (p.Leu264Met) c.697C>A (p.Leu233Met) c.949C>A (p.Leu317Met) c.598C>A (p.Leu200Met) | |
1 | g.155294658C>A | CA421245716 | PKLR | c.789G>T (p.Gly263=) c.696G>T (p.Gly232=) c.948G>T (p.Gly316=) c.597G>T (p.Gly199=) | dbSNP gnomAD v4 |
1 | g.155294658C= | CA1200112247 | PKLR | c.789G= (p.Gly263=) c.696G= (p.Gly232=) c.948G= (p.Gly316=) c.597G= (p.Gly199=) | |
1 | g.155294658C>G | CA421245715 | PKLR | c.789G>C (p.Gly263=) c.696G>C (p.Gly232=) c.948G>C (p.Gly316=) c.597G>C (p.Gly199=) | |
1 | g.155294658C>T | CA421245717 | PKLR | c.789G>A (p.Gly263=) c.696G>A (p.Gly232=) c.948G>A (p.Gly316=) c.597G>A (p.Gly199=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294659C>A | CA342754422 | PKLR | c.788G>T (p.Gly263Val) c.695G>T (p.Gly232Val) c.947G>T (p.Gly316Val) c.596G>T (p.Gly199Val) | |
1 | g.155294659C= | CA1200112248 | PKLR | c.788G= (p.Gly263=) c.695G= (p.Gly232=) c.947G= (p.Gly316=) c.596G= (p.Gly199=) | |
1 | g.155294659C>G | CA342754425 | PKLR | c.788G>C (p.Gly263Ala) c.695G>C (p.Gly232Ala) c.947G>C (p.Gly316Ala) c.596G>C (p.Gly199Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294659C>T | CA30903386 | PKLR | c.788G>A (p.Gly263Glu) c.695G>A (p.Gly232Glu) c.947G>A (p.Gly316Glu) c.596G>A (p.Gly199Glu) | dbSNP COSMIC |
1 | g.155294660C>A | CA342754428 | PKLR | c.787G>T (p.Gly263Trp) c.694G>T (p.Gly232Trp) c.946G>T (p.Gly316Trp) c.595G>T (p.Gly199Trp) | |
1 | g.155294660C= | CA1200112249 | PKLR | c.787G= (p.Gly263=) c.694G= (p.Gly232=) c.946G= (p.Gly316=) c.595G= (p.Gly199=) | |
1 | g.155294660C>G | CA342754430 | PKLR | c.787G>C (p.Gly263Arg) c.694G>C (p.Gly232Arg) c.946G>C (p.Gly316Arg) c.595G>C (p.Gly199Arg) | gnomAD v4 |
1 | g.155294660C>T | CA342754432 | PKLR | c.787G>A (p.Gly263Arg) c.694G>A (p.Gly232Arg) c.946G>A (p.Gly316Arg) c.595G>A (p.Gly199Arg) | dbSNP gnomAD v4 COSMIC |
1 | g.155294661G>A | CA30903392 | PKLR | c.786C>T (p.Pro262=) c.693C>T (p.Pro231=) c.945C>T (p.Pro315=) c.594C>T (p.Pro198=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294661G>C | CA421245718 | PKLR | c.786C>G (p.Pro262=) c.693C>G (p.Pro231=) c.945C>G (p.Pro315=) c.594C>G (p.Pro198=) | COSMIC |
1 | g.155294661G= | CA1142233589 | PKLR | c.786C= (p.Pro262=) c.693C= (p.Pro231=) c.945C= (p.Pro315=) c.594C= (p.Pro198=) | |
1 | g.155294661G>T | CA421245719 | PKLR | c.786C>A (p.Pro262=) c.693C>A (p.Pro231=) c.945C>A (p.Pro315=) c.594C>A (p.Pro198=) | |
1 | g.155294662G>A | CA342754436 | PKLR | c.785C>T (p.Pro262Leu) c.692C>T (p.Pro231Leu) c.944C>T (p.Pro315Leu) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294662G>C | CA342754438 | PKLR | c.785C>G (p.Pro262Arg) c.692C>G (p.Pro231Arg) c.944C>G (p.Pro315Arg) c.593C>G (p.Pro198Arg) | |
1 | g.155294662G= | CA1200112250 | PKLR | c.785C= (p.Pro262=) c.692C= (p.Pro231=) c.944C= (p.Pro315=) c.593C= (p.Pro198=) | |
1 | g.155294662G>T | CA342754439 | PKLR | c.785C>A (p.Pro262His) c.692C>A (p.Pro231His) c.944C>A (p.Pro315His) c.593C>A (p.Pro198His) | |
1 | g.155294663G>A | CA342754442 | PKLR | c.784C>T (p.Pro262Ser) c.691C>T (p.Pro231Ser) c.943C>T (p.Pro315Ser) c.592C>T (p.Pro198Ser) | |
1 | g.155294663G>C | CA342754443 | PKLR | c.784C>G (p.Pro262Ala) c.691C>G (p.Pro231Ala) c.943C>G (p.Pro315Ala) c.592C>G (p.Pro198Ala) | |
1 | g.155294663G>T | CA342754445 | PKLR | c.784C>A (p.Pro262Thr) c.691C>A (p.Pro231Thr) c.943C>A (p.Pro315Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
1 | g.155294664C>A | CA1144212 | PKLR | c.783G>T (p.Leu261Phe) c.690G>T (p.Leu230Phe) c.942G>T (p.Leu314Phe) c.591G>T (p.Leu197Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294664C= | CA1200112251 | PKLR | c.783G= (p.Leu261=) c.690G= (p.Leu230=) c.942G= (p.Leu314=) c.591G= (p.Leu197=) | |
1 | g.155294664C>G | CA342754448 | PKLR | c.783G>C (p.Leu261Phe) c.690G>C (p.Leu230Phe) c.942G>C (p.Leu314Phe) c.591G>C (p.Leu197Phe) | gnomAD v4 |
1 | g.155294664C>T | CA421245720 | PKLR | c.783G>A (p.Leu261=) c.690G>A (p.Leu230=) c.942G>A (p.Leu314=) c.591G>A (p.Leu197=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294665A= | CA1200112252 | PKLR | c.782T= (p.Leu261=) c.689T= (p.Leu230=) c.941T= (p.Leu314=) c.590T= (p.Leu197=) | |
1 | g.155294665A>C | CA342754452 | PKLR | c.782T>G (p.Leu261Trp) c.689T>G (p.Leu230Trp) c.941T>G (p.Leu314Trp) c.590T>G (p.Leu197Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294665A>G | CA342754456 | PKLR | c.782T>C (p.Leu261Ser) c.689T>C (p.Leu230Ser) c.941T>C (p.Leu314Ser) c.590T>C (p.Leu197Ser) | |
1 | g.155294665A>T | CA342754454 | PKLR | c.782T>A (p.Leu261Ter) c.689T>A (p.Leu230Ter) c.941T>A (p.Leu314Ter) c.590T>A (p.Leu197Ter) | |
1 | g.155294666A>C | CA342754458 | PKLR | c.781T>G (p.Leu261Val) c.688T>G (p.Leu230Val) c.940T>G (p.Leu314Val) c.589T>G (p.Leu197Val) | |
1 | g.155294666A>G | CA421245722 | PKLR | c.781T>C (p.Leu261=) c.688T>C (p.Leu230=) c.940T>C (p.Leu314=) c.589T>C (p.Leu197=) | |
1 | g.155294666A>T | CA342754463 | PKLR | c.781T>A (p.Leu261Met) c.688T>A (p.Leu230Met) c.940T>A (p.Leu314Met) c.589T>A (p.Leu197Met) | |
1 | g.155294667G>A | CA421245723 | PKLR | c.780C>T (p.Asp260=) c.687C>T (p.Asp229=) c.939C>T (p.Asp313=) c.588C>T (p.Asp196=) | gnomAD v4 |
1 | g.155294667G>C | CA342754465 | PKLR | c.780C>G (p.Asp260Glu) c.687C>G (p.Asp229Glu) c.939C>G (p.Asp313Glu) c.588C>G (p.Asp196Glu) | |
1 | g.155294667G= | CA1200112253 | PKLR | c.780C= (p.Asp260=) c.687C= (p.Asp229=) c.939C= (p.Asp313=) c.588C= (p.Asp196=) | |
1 | g.155294667G>T | CA1144213 | PKLR | c.780C>A (p.Asp260Glu) c.687C>A (p.Asp229Glu) c.939C>A (p.Asp313Glu) c.588C>A (p.Asp196Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294668T>A | CA342754469 | PKLR | c.779A>T (p.Asp260Val) c.686A>T (p.Asp229Val) c.938A>T (p.Asp313Val) c.587A>T (p.Asp196Val) | |
1 | g.155294668T>C | CA342754470 | PKLR | c.779A>G (p.Asp260Gly) c.686A>G (p.Asp229Gly) c.938A>G (p.Asp313Gly) c.587A>G (p.Asp196Gly) | |
1 | g.155294668T>G | CA342754472 | PKLR | c.779A>C (p.Asp260Ala) c.686A>C (p.Asp229Ala) c.938A>C (p.Asp313Ala) c.587A>C (p.Asp196Ala) | |
1 | g.155294669C>A | CA342754475 | PKLR | c.778G>T (p.Asp260Tyr) c.685G>T (p.Asp229Tyr) c.937G>T (p.Asp313Tyr) c.586G>T (p.Asp196Tyr) | |
1 | g.155294669C= | CA1141751819 | PKLR | c.778G= (p.Asp260=) c.685G= (p.Asp229=) c.937G= (p.Asp313=) c.586G= (p.Asp196=) | |
1 | g.155294669C>G | CA1144214 | PKLR | c.778G>C (p.Asp260His) c.685G>C (p.Asp229His) c.937G>C (p.Asp313His) c.586G>C (p.Asp196His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294669C>T | CA1144215 | PKLR | c.778G>A (p.Asp260Asn) c.685G>A (p.Asp229Asn) c.937G>A (p.Asp313Asn) c.586G>A (p.Asp196Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294670C>A | CA421245727 | PKLR | c.777G>T (p.Val259=) c.684G>T (p.Val228=) c.936G>T (p.Val312=) c.585G>T (p.Val195=) | |
1 | g.155294670C>G | CA421245728 | PKLR | c.777G>C (p.Val259=) c.684G>C (p.Val228=) c.936G>C (p.Val312=) c.585G>C (p.Val195=) | |
1 | g.155294670C>T | CA421245729 | PKLR | c.777G>A (p.Val259=) c.684G>A (p.Val228=) c.936G>A (p.Val312=) c.585G>A (p.Val195=) | |
1 | g.155294671A>C | CA342754479 | PKLR | c.776T>G (p.Val259Gly) c.683T>G (p.Val228Gly) c.935T>G (p.Val312Gly) c.584T>G (p.Val195Gly) | |
1 | g.155294671A>G | CA342754481 | PKLR | c.776T>C (p.Val259Ala) c.683T>C (p.Val228Ala) c.935T>C (p.Val312Ala) c.584T>C (p.Val195Ala) | |
1 | g.155294671A>T | CA342754482 | PKLR | c.776T>A (p.Val259Glu) c.683T>A (p.Val228Glu) c.935T>A (p.Val312Glu) c.584T>A (p.Val195Glu) | |
1 | g.155294672C>A | CA342754484 | PKLR | c.775G>T (p.Val259Leu) c.682G>T (p.Val228Leu) c.934G>T (p.Val312Leu) c.583G>T (p.Val195Leu) | dbSNP gnomAD v2 |
1 | g.155294672C= | CA1200112254 | PKLR | c.775G= (p.Val259=) c.682G= (p.Val228=) c.934G= (p.Val312=) c.583G= (p.Val195=) | |
1 | g.155294672C>G | CA342754487 | PKLR | c.775G>C (p.Val259Leu) c.682G>C (p.Val228Leu) c.934G>C (p.Val312Leu) c.583G>C (p.Val195Leu) | |
1 | g.155294672C>T | CA30903403 | PKLR | c.775G>A (p.Val259Met) c.682G>A (p.Val228Met) c.934G>A (p.Val312Met) c.583G>A (p.Val195Met) | dbSNP |
1 | g.155294673C>A | CA342754490 | PKLR | c.774G>T (p.Gln258His) c.681G>T (p.Gln227His) c.933G>T (p.Gln311His) c.582G>T (p.Gln194His) | |
1 | g.155294673C>G | CA342754491 | PKLR | c.774G>C (p.Gln258His) c.681G>C (p.Gln227His) c.933G>C (p.Gln311His) c.582G>C (p.Gln194His) | |
1 | g.155294673C>T | CA421245732 | PKLR | c.774G>A (p.Gln258=) c.681G>A (p.Gln227=) c.933G>A (p.Gln311=) c.582G>A (p.Gln194=) | gnomAD v4 |
1 | g.155294674T>A | CA342754495 | PKLR | c.773A>T (p.Gln258Leu) c.680A>T (p.Gln227Leu) c.932A>T (p.Gln311Leu) c.581A>T (p.Gln194Leu) | |
1 | g.155294674T>C | CA342754496 | PKLR | c.773A>G (p.Gln258Arg) c.680A>G (p.Gln227Arg) c.932A>G (p.Gln311Arg) c.581A>G (p.Gln194Arg) | |
1 | g.155294674T>G | CA342754498 | PKLR | c.773A>C (p.Gln258Pro) c.680A>C (p.Gln227Pro) c.932A>C (p.Gln311Pro) c.581A>C (p.Gln194Pro) | |
1 | g.155294675G>A | CA342754501 | PKLR | c.772C>T (p.Gln258Ter) c.679C>T (p.Gln227Ter) c.931C>T (p.Gln311Ter) c.580C>T (p.Gln194Ter) | |
1 | g.155294675G>C | CA342754502 | PKLR | c.772C>G (p.Gln258Glu) c.679C>G (p.Gln227Glu) c.931C>G (p.Gln311Glu) c.580C>G (p.Gln194Glu) | |
1 | g.155294675G>T | CA342754503 | PKLR | c.772C>A (p.Gln258Lys) c.679C>A (p.Gln227Lys) c.931C>A (p.Gln311Lys) c.580C>A (p.Gln194Lys) | |
1 | g.155294676G>A | CA421245734 | PKLR | c.771C>T (p.Ala257=) c.678C>T (p.Ala226=) c.930C>T (p.Ala310=) c.579C>T (p.Ala193=) | gnomAD v4 |
1 | g.155294676G>C | CA421245735 | PKLR | c.771C>G (p.Ala257=) c.678C>G (p.Ala226=) c.930C>G (p.Ala310=) c.579C>G (p.Ala193=) | |
1 | g.155294676G= | CA1200112255 | PKLR | c.771C= (p.Ala257=) c.678C= (p.Ala226=) c.930C= (p.Ala310=) c.579C= (p.Ala193=) | |
1 | g.155294676G>T | CA421245736 | PKLR | c.771C>A (p.Ala257=) c.678C>A (p.Ala226=) c.930C>A (p.Ala310=) c.579C>A (p.Ala193=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294677G>A | CA1144216 | PKLR | c.770C>T (p.Ala257Val) c.677C>T (p.Ala226Val) c.929C>T (p.Ala310Val) c.578C>T (p.Ala193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294677G>C | CA342754507 | PKLR | c.770C>G (p.Ala257Gly) c.677C>G (p.Ala226Gly) c.929C>G (p.Ala310Gly) c.578C>G (p.Ala193Gly) | |
1 | g.155294677G= | CA1200112256 | PKLR | c.770C= (p.Ala257=) c.677C= (p.Ala226=) c.929C= (p.Ala310=) c.578C= (p.Ala193=) | |
1 | g.155294677G>T | CA342754509 | PKLR | c.770C>A (p.Ala257Asp) c.677C>A (p.Ala226Asp) c.929C>A (p.Ala310Asp) c.578C>A (p.Ala193Asp) | |
1 | g.155294678C>A | CA342754515 | PKLR | c.769G>T (p.Ala257Ser) c.676G>T (p.Ala226Ser) c.928G>T (p.Ala310Ser) c.577G>T (p.Ala193Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294678C= | CA1200112257 | PKLR | c.769G= (p.Ala257=) c.676G= (p.Ala226=) c.928G= (p.Ala310=) c.577G= (p.Ala193=) | |
1 | g.155294678C>G | CA342754513 | PKLR | c.769G>C (p.Ala257Pro) c.676G>C (p.Ala226Pro) c.928G>C (p.Ala310Pro) c.577G>C (p.Ala193Pro) | |
1 | g.155294678C>T | CA1144217 | PKLR | c.769G>A (p.Ala257Thr) c.676G>A (p.Ala226Thr) c.928G>A (p.Ala310Thr) c.577G>A (p.Ala193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294679C>A | CA421245745 | PKLR | c.768G>T (p.Gly256=) c.675G>T (p.Gly225=) c.927G>T (p.Gly309=) c.576G>T (p.Gly192=) | |
1 | g.155294679C>G | CA421245743 | PKLR | c.768G>C (p.Gly256=) c.675G>C (p.Gly225=) c.927G>C (p.Gly309=) c.576G>C (p.Gly192=) | |
1 | g.155294679C>T | CA421245744 | PKLR | c.768G>A (p.Gly256=) c.675G>A (p.Gly225=) c.927G>A (p.Gly309=) c.576G>A (p.Gly192=) | |
1 | g.155294680C>A | CA342754520 | PKLR | c.767G>T (p.Gly256Val) c.674G>T (p.Gly225Val) c.926G>T (p.Gly309Val) c.575G>T (p.Gly192Val) | |
1 | g.155294680C= | CA1200112258 | PKLR | c.767G= (p.Gly256=) c.674G= (p.Gly225=) c.926G= (p.Gly309=) c.575G= (p.Gly192=) | |
1 | g.155294680C>G | CA342754517 | PKLR | c.767G>C (p.Gly256Ala) c.674G>C (p.Gly225Ala) c.926G>C (p.Gly309Ala) c.575G>C (p.Gly192Ala) | |
1 | g.155294680C>T | CA342754519 | PKLR | c.767G>A (p.Gly256Glu) c.674G>A (p.Gly225Glu) c.926G>A (p.Gly309Glu) c.575G>A (p.Gly192Glu) | ClinVar dbSNP gnomAD v4 |