| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.91220822_91220823del | CA5119728 | AUH | c.830_831del (p.Glu277ValfsTer17) c.743_744del (p.Glu248ValfsTer17) n.102_103del c.860_861del (p.Glu287ValfsTer17) c.860_861del (p.Glu287ValfsTer?) c.368_369del (p.Glu123ValfsTer17) c.773_774del (p.Glu258ValfsTer17) c.506_507del (p.Glu169ValfsTer17) c.503_504del (p.Glu168ValfsTer17) n.1055_1056del n.1007_1008del | dbSNP ExAC gnomAD v2 |
| 9 | g.91220820_91220823del | CA2690635626 | AUH | c.828_831del (p.Arg276SerfsTer10) c.741_744del (p.Arg247SerfsTer10) n.100_103del c.858_861del (p.Arg286SerfsTer10) c.858_861del (p.Arg286SerfsTer9) c.366_369del (p.Arg122SerfsTer10) c.771_774del (p.Arg257SerfsTer10) c.504_507del (p.Arg168SerfsTer10) c.501_504del (p.Arg167SerfsTer10) n.1053_1056del n.1005_1008del | gnomAD v4 |
| 9 | g.91220823C>A | CA466225515 | AUH | c.825G>T (p.Ala275=) c.738G>T (p.Ala246=) n.97G>T c.855G>T (p.Ala285=) c.363G>T (p.Ala121=) c.768G>T (p.Ala256=) c.501G>T (p.Ala167=) c.498G>T (p.Ala166=) n.1050G>T n.1002G>T | |
| 9 | g.91220823C= | CA1863688886 | AUH | c.825G= (p.Ala275=) c.738G= (p.Ala246=) n.97G= c.855G= (p.Ala285=) c.363G= (p.Ala121=) c.768G= (p.Ala256=) c.501G= (p.Ala167=) c.498G= (p.Ala166=) n.1050G= n.1002G= | |
| 9 | g.91220823C>G | CA466225516 | AUH | c.825G>C (p.Ala275=) c.738G>C (p.Ala246=) n.97G>C c.855G>C (p.Ala285=) c.363G>C (p.Ala121=) c.768G>C (p.Ala256=) c.501G>C (p.Ala167=) c.498G>C (p.Ala166=) n.1050G>C n.1002G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220823C>T | CA5119730 | AUH | c.825G>A (p.Ala275=) c.738G>A (p.Ala246=) n.97G>A c.855G>A (p.Ala285=) c.363G>A (p.Ala121=) c.768G>A (p.Ala256=) c.501G>A (p.Ala167=) c.498G>A (p.Ala166=) n.1050G>A n.1002G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220824G>A | CA320900 | AUH | c.824C>T (p.Ala275Val) c.737C>T (p.Ala246Val) n.96C>T c.854C>T (p.Ala285Val) c.362C>T (p.Ala121Val) c.767C>T (p.Ala256Val) c.500C>T (p.Ala167Val) c.497C>T (p.Ala166Val) n.1049C>T n.1001C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220824G>C | CA373835029 | AUH | c.824C>G (p.Ala275Gly) c.737C>G (p.Ala246Gly) n.96C>G c.854C>G (p.Ala285Gly) c.362C>G (p.Ala121Gly) c.767C>G (p.Ala256Gly) c.500C>G (p.Ala167Gly) c.497C>G (p.Ala166Gly) n.1049C>G n.1001C>G | |
| 9 | g.91220824G= | CA1863688889 | AUH | c.824C= (p.Ala275=) c.737C= (p.Ala246=) n.96C= c.854C= (p.Ala285=) c.362C= (p.Ala121=) c.767C= (p.Ala256=) c.500C= (p.Ala167=) c.497C= (p.Ala166=) n.1049C= n.1001C= | |
| 9 | g.91220824G>T | CA373835030 | AUH | c.824C>A (p.Ala275Glu) c.737C>A (p.Ala246Glu) n.96C>A c.854C>A (p.Ala285Glu) c.362C>A (p.Ala121Glu) c.767C>A (p.Ala256Glu) c.500C>A (p.Ala167Glu) c.497C>A (p.Ala166Glu) n.1049C>A n.1001C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220825C>A | CA373835031 | AUH | c.823G>T (p.Ala275Ser) c.736G>T (p.Ala246Ser) n.95G>T c.853G>T (p.Ala285Ser) c.361G>T (p.Ala121Ser) c.766G>T (p.Ala256Ser) c.499G>T (p.Ala167Ser) c.496G>T (p.Ala166Ser) n.1048G>T n.1000G>T | |
| 9 | g.91220825C= | CA1863688891 | AUH | c.823G= (p.Ala275=) c.736G= (p.Ala246=) n.95G= c.853G= (p.Ala285=) c.361G= (p.Ala121=) c.766G= (p.Ala256=) c.499G= (p.Ala167=) c.496G= (p.Ala166=) n.1048G= n.1000G= | |
| 9 | g.91220825C>G | CA373835032 | AUH | c.823G>C (p.Ala275Pro) c.736G>C (p.Ala246Pro) n.95G>C c.853G>C (p.Ala285Pro) c.361G>C (p.Ala121Pro) c.766G>C (p.Ala256Pro) c.499G>C (p.Ala167Pro) c.496G>C (p.Ala166Pro) n.1048G>C n.1000G>C | |
| 9 | g.91220825C>T | CA373835033 | AUH | c.823G>A (p.Ala275Thr) c.736G>A (p.Ala246Thr) n.95G>A c.853G>A (p.Ala285Thr) c.361G>A (p.Ala121Thr) c.766G>A (p.Ala256Thr) c.499G>A (p.Ala167Thr) c.496G>A (p.Ala166Thr) n.1048G>A n.1000G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220826C>A | CA466225525 | AUH | c.822G>T (p.Leu274=) c.735G>T (p.Leu245=) n.94G>T c.852G>T (p.Leu284=) c.360G>T (p.Leu120=) c.765G>T (p.Leu255=) c.498G>T (p.Leu166=) c.495G>T (p.Leu165=) n.1047G>T n.999G>T | |
| 9 | g.91220826C>G | CA466225527 | AUH | c.822G>C (p.Leu274=) c.735G>C (p.Leu245=) n.94G>C c.852G>C (p.Leu284=) c.360G>C (p.Leu120=) c.765G>C (p.Leu255=) c.498G>C (p.Leu166=) c.495G>C (p.Leu165=) n.1047G>C n.999G>C | |
| 9 | g.91220826C>T | CA466225528 | AUH | c.822G>A (p.Leu274=) c.735G>A (p.Leu245=) n.94G>A c.852G>A (p.Leu284=) c.360G>A (p.Leu120=) c.765G>A (p.Leu255=) c.498G>A (p.Leu166=) c.495G>A (p.Leu165=) n.1047G>A n.999G>A | |
| 9 | g.91220827A>C | CA373835034 | AUH | c.821T>G (p.Leu274Arg) c.734T>G (p.Leu245Arg) n.93T>G c.851T>G (p.Leu284Arg) c.359T>G (p.Leu120Arg) c.764T>G (p.Leu255Arg) c.497T>G (p.Leu166Arg) c.494T>G (p.Leu165Arg) n.1046T>G n.998T>G | |
| 9 | g.91220827A>G | CA373835035 | AUH | c.821T>C (p.Leu274Pro) c.734T>C (p.Leu245Pro) n.93T>C c.851T>C (p.Leu284Pro) c.359T>C (p.Leu120Pro) c.764T>C (p.Leu255Pro) c.497T>C (p.Leu166Pro) c.494T>C (p.Leu165Pro) n.1046T>C n.998T>C | |
| 9 | g.91220827A>T | CA373835036 | AUH | c.821T>A (p.Leu274Gln) c.734T>A (p.Leu245Gln) n.93T>A c.851T>A (p.Leu284Gln) c.359T>A (p.Leu120Gln) c.764T>A (p.Leu255Gln) c.497T>A (p.Leu166Gln) c.494T>A (p.Leu165Gln) n.1046T>A n.998T>A | |
| 9 | g.91220828G>A | CA466225532 | AUH | c.820C>T (p.Leu274=) c.733C>T (p.Leu245=) n.92C>T c.850C>T (p.Leu284=) c.358C>T (p.Leu120=) c.763C>T (p.Leu255=) c.496C>T (p.Leu166=) c.493C>T (p.Leu165=) n.1045C>T n.997C>T | gnomAD v4 |
| 9 | g.91220828G>C | CA373835037 | AUH | c.820C>G (p.Leu274Val) c.733C>G (p.Leu245Val) n.92C>G c.850C>G (p.Leu284Val) c.358C>G (p.Leu120Val) c.763C>G (p.Leu255Val) c.496C>G (p.Leu166Val) c.493C>G (p.Leu165Val) n.1045C>G n.997C>G | |
| 9 | g.91220828G>T | CA373835038 | AUH | c.820C>A (p.Leu274Met) c.733C>A (p.Leu245Met) n.92C>A c.850C>A (p.Leu284Met) c.358C>A (p.Leu120Met) c.763C>A (p.Leu255Met) c.496C>A (p.Leu166Met) c.493C>A (p.Leu165Met) n.1045C>A n.997C>A | |
| 9 | g.91220829G>A | CA466225536 | AUH | c.819C>T (p.Asp273=) c.732C>T (p.Asp244=) n.91C>T c.849C>T (p.Asp283=) c.357C>T (p.Asp119=) c.762C>T (p.Asp254=) c.495C>T (p.Asp165=) c.492C>T (p.Asp164=) n.1044C>T n.996C>T | |
| 9 | g.91220829G>C | CA373835039 | AUH | c.819C>G (p.Asp273Glu) c.732C>G (p.Asp244Glu) n.91C>G c.849C>G (p.Asp283Glu) c.357C>G (p.Asp119Glu) c.762C>G (p.Asp254Glu) c.495C>G (p.Asp165Glu) c.492C>G (p.Asp164Glu) n.1044C>G n.996C>G | |
| 9 | g.91220829G>T | CA373835040 | AUH | c.819C>A (p.Asp273Glu) c.732C>A (p.Asp244Glu) n.91C>A c.849C>A (p.Asp283Glu) c.357C>A (p.Asp119Glu) c.762C>A (p.Asp254Glu) c.495C>A (p.Asp165Glu) c.492C>A (p.Asp164Glu) n.1044C>A n.996C>A | |
| 9 | g.91220830T>A | CA373835042 | AUH | c.818A>T (p.Asp273Val) c.731A>T (p.Asp244Val) n.90A>T c.848A>T (p.Asp283Val) c.356A>T (p.Asp119Val) c.761A>T (p.Asp254Val) c.494A>T (p.Asp165Val) c.491A>T (p.Asp164Val) n.1043A>T n.995A>T | |
| 9 | g.91220830T>C | CA373835043 | AUH | c.818A>G (p.Asp273Gly) c.731A>G (p.Asp244Gly) n.90A>G c.848A>G (p.Asp283Gly) c.356A>G (p.Asp119Gly) c.761A>G (p.Asp254Gly) c.494A>G (p.Asp165Gly) c.491A>G (p.Asp164Gly) n.1043A>G n.995A>G | |
| 9 | g.91220830T>G | CA373835041 | AUH | c.818A>C (p.Asp273Ala) c.731A>C (p.Asp244Ala) n.90A>C c.848A>C (p.Asp283Ala) c.356A>C (p.Asp119Ala) c.761A>C (p.Asp254Ala) c.494A>C (p.Asp165Ala) c.491A>C (p.Asp164Ala) n.1043A>C n.995A>C | |
| 9 | g.91220831C>A | CA373835045 | AUH | c.817G>T (p.Asp273Tyr) c.730G>T (p.Asp244Tyr) n.89G>T c.847G>T (p.Asp283Tyr) c.355G>T (p.Asp119Tyr) c.760G>T (p.Asp254Tyr) c.493G>T (p.Asp165Tyr) c.490G>T (p.Asp164Tyr) n.1042G>T n.994G>T | |
| 9 | g.91220831C= | CA1863688893 | AUH | c.817G= (p.Asp273=) c.730G= (p.Asp244=) n.89G= c.847G= (p.Asp283=) c.355G= (p.Asp119=) c.760G= (p.Asp254=) c.493G= (p.Asp165=) c.490G= (p.Asp164=) n.1042G= n.994G= | |
| 9 | g.91220831C>G | CA373835044 | AUH | c.817G>C (p.Asp273His) c.730G>C (p.Asp244His) n.89G>C c.847G>C (p.Asp283His) c.355G>C (p.Asp119His) c.760G>C (p.Asp254His) c.493G>C (p.Asp165His) c.490G>C (p.Asp164His) n.1042G>C n.994G>C | |
| 9 | g.91220831C>T | CA5119731 | AUH | c.817G>A (p.Asp273Asn) c.730G>A (p.Asp244Asn) n.89G>A c.847G>A (p.Asp283Asn) c.355G>A (p.Asp119Asn) c.760G>A (p.Asp254Asn) c.493G>A (p.Asp165Asn) c.490G>A (p.Asp164Asn) n.1042G>A n.994G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220832C>A | CA373835046 | AUH | c.816G>T (p.Leu272Phe) c.729G>T (p.Leu243Phe) n.88G>T c.846G>T (p.Leu282Phe) c.354G>T (p.Leu118Phe) c.759G>T (p.Leu253Phe) c.492G>T (p.Leu164Phe) c.489G>T (p.Leu163Phe) n.1041G>T n.993G>T | |
| 9 | g.91220832C= | CA1863688896 | AUH | c.816G= (p.Leu272=) c.729G= (p.Leu243=) n.88G= c.846G= (p.Leu282=) c.354G= (p.Leu118=) c.759G= (p.Leu253=) c.492G= (p.Leu164=) c.489G= (p.Leu163=) n.1041G= n.993G= | |
| 9 | g.91220832C>G | CA373835047 | AUH | c.816G>C (p.Leu272Phe) c.729G>C (p.Leu243Phe) n.88G>C c.846G>C (p.Leu282Phe) c.354G>C (p.Leu118Phe) c.759G>C (p.Leu253Phe) c.492G>C (p.Leu164Phe) c.489G>C (p.Leu163Phe) n.1041G>C n.993G>C | |
| 9 | g.91220832C>T | CA466225544 | AUH | c.816G>A (p.Leu272=) c.729G>A (p.Leu243=) n.88G>A c.846G>A (p.Leu282=) c.354G>A (p.Leu118=) c.759G>A (p.Leu253=) c.492G>A (p.Leu164=) c.489G>A (p.Leu163=) n.1041G>A n.993G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220833A>C | CA373835048 | AUH | c.815T>G (p.Leu272Trp) c.728T>G (p.Leu243Trp) n.87T>G c.845T>G (p.Leu282Trp) c.353T>G (p.Leu118Trp) c.758T>G (p.Leu253Trp) c.491T>G (p.Leu164Trp) c.488T>G (p.Leu163Trp) n.1040T>G n.992T>G | |
| 9 | g.91220833A>G | CA373835050 | AUH | c.815T>C (p.Leu272Ser) c.728T>C (p.Leu243Ser) n.87T>C c.845T>C (p.Leu282Ser) c.353T>C (p.Leu118Ser) c.758T>C (p.Leu253Ser) c.491T>C (p.Leu164Ser) c.488T>C (p.Leu163Ser) n.1040T>C n.992T>C | |
| 9 | g.91220833A>T | CA373835049 | AUH | c.815T>A (p.Leu272Ter) c.728T>A (p.Leu243Ter) n.87T>A c.845T>A (p.Leu282Ter) c.353T>A (p.Leu118Ter) c.758T>A (p.Leu253Ter) c.491T>A (p.Leu164Ter) c.488T>A (p.Leu163Ter) n.1040T>A n.992T>A | |
| 9 | g.91220834A>C | CA373835051 | AUH | c.814T>G (p.Leu272Val) c.727T>G (p.Leu243Val) n.86T>G c.844T>G (p.Leu282Val) c.352T>G (p.Leu118Val) c.757T>G (p.Leu253Val) c.490T>G (p.Leu164Val) c.487T>G (p.Leu163Val) n.1039T>G n.991T>G | |
| 9 | g.91220834A>G | CA466225550 | AUH | c.814T>C (p.Leu272=) c.727T>C (p.Leu243=) n.86T>C c.844T>C (p.Leu282=) c.352T>C (p.Leu118=) c.757T>C (p.Leu253=) c.490T>C (p.Leu164=) c.487T>C (p.Leu163=) n.1039T>C n.991T>C | |
| 9 | g.91220834A>T | CA373835052 | AUH | c.814T>A (p.Leu272Met) c.727T>A (p.Leu243Met) n.86T>A c.844T>A (p.Leu282Met) c.352T>A (p.Leu118Met) c.757T>A (p.Leu253Met) c.490T>A (p.Leu164Met) c.487T>A (p.Leu163Met) n.1039T>A n.991T>A | |
| 9 | g.91220835G>A | CA466225556 | AUH | c.813C>T (p.Ala271=) c.726C>T (p.Ala242=) n.85C>T c.843C>T (p.Ala281=) c.351C>T (p.Ala117=) c.756C>T (p.Ala252=) c.489C>T (p.Ala163=) c.486C>T (p.Ala162=) n.1038C>T n.990C>T | |
| 9 | g.91220835G>C | CA466225555 | AUH | c.813C>G (p.Ala271=) c.726C>G (p.Ala242=) n.85C>G c.843C>G (p.Ala281=) c.351C>G (p.Ala117=) c.756C>G (p.Ala252=) c.489C>G (p.Ala163=) c.486C>G (p.Ala162=) n.1038C>G n.990C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220835G= | CA1863688899 | AUH | c.813C= (p.Ala271=) c.726C= (p.Ala242=) n.85C= c.843C= (p.Ala281=) c.351C= (p.Ala117=) c.756C= (p.Ala252=) c.489C= (p.Ala163=) c.486C= (p.Ala162=) n.1038C= n.990C= | |
| 9 | g.91220835G>T | CA466225554 | AUH | c.813C>A (p.Ala271=) c.726C>A (p.Ala242=) n.85C>A c.843C>A (p.Ala281=) c.351C>A (p.Ala117=) c.756C>A (p.Ala252=) c.489C>A (p.Ala163=) c.486C>A (p.Ala162=) n.1038C>A n.990C>A | |
| 9 | g.91220836G>A | CA373835053 | AUH | c.812C>T (p.Ala271Val) c.725C>T (p.Ala242Val) n.84C>T c.842C>T (p.Ala281Val) c.350C>T (p.Ala117Val) c.755C>T (p.Ala252Val) c.488C>T (p.Ala163Val) c.485C>T (p.Ala162Val) n.1037C>T n.989C>T | |
| 9 | g.91220836G>C | CA373835054 | AUH | c.812C>G (p.Ala271Gly) c.725C>G (p.Ala242Gly) n.84C>G c.842C>G (p.Ala281Gly) c.350C>G (p.Ala117Gly) c.755C>G (p.Ala252Gly) c.488C>G (p.Ala163Gly) c.485C>G (p.Ala162Gly) n.1037C>G n.989C>G | |
| 9 | g.91220836G>T | CA373835055 | AUH | c.812C>A (p.Ala271Asp) c.725C>A (p.Ala242Asp) n.84C>A c.842C>A (p.Ala281Asp) c.350C>A (p.Ala117Asp) c.755C>A (p.Ala252Asp) c.488C>A (p.Ala163Asp) c.485C>A (p.Ala162Asp) n.1037C>A n.989C>A | |
| 9 | g.91220837C>A | CA373835056 | AUH | c.811G>T (p.Ala271Ser) c.724G>T (p.Ala242Ser) n.83G>T c.841G>T (p.Ala281Ser) c.349G>T (p.Ala117Ser) c.754G>T (p.Ala252Ser) c.487G>T (p.Ala163Ser) c.484G>T (p.Ala162Ser) n.1036G>T n.988G>T | |
| 9 | g.91220837C= | CA1863688902 | AUH | c.811G= (p.Ala271=) c.724G= (p.Ala242=) n.83G= c.841G= (p.Ala281=) c.349G= (p.Ala117=) c.754G= (p.Ala252=) c.487G= (p.Ala163=) c.484G= (p.Ala162=) n.1036G= n.988G= | |
| 9 | g.91220837C>G | CA5119732 | AUH | c.811G>C (p.Ala271Pro) c.724G>C (p.Ala242Pro) n.83G>C c.841G>C (p.Ala281Pro) c.349G>C (p.Ala117Pro) c.754G>C (p.Ala252Pro) c.487G>C (p.Ala163Pro) c.484G>C (p.Ala162Pro) n.1036G>C n.988G>C | dbSNP ExAC gnomAD v2 |
| 9 | g.91220837C>T | CA195893122 | AUH | c.811G>A (p.Ala271Thr) c.724G>A (p.Ala242Thr) n.83G>A c.841G>A (p.Ala281Thr) c.349G>A (p.Ala117Thr) c.754G>A (p.Ala252Thr) c.487G>A (p.Ala163Thr) c.484G>A (p.Ala162Thr) n.1036G>A n.988G>A | dbSNP |
| 9 | g.91220838C>A | CA373835057 | AUH | c.810G>T (p.Lys270Asn) c.723G>T (p.Lys241Asn) n.82G>T c.840G>T (p.Lys280Asn) c.348G>T (p.Lys116Asn) c.753G>T (p.Lys251Asn) c.486G>T (p.Lys162Asn) c.483G>T (p.Lys161Asn) n.1035G>T n.987G>T | |
| 9 | g.91220838C= | CA1863688907 | AUH | c.810G= (p.Lys270=) c.723G= (p.Lys241=) n.82G= c.840G= (p.Lys280=) c.348G= (p.Lys116=) c.753G= (p.Lys251=) c.486G= (p.Lys162=) c.483G= (p.Lys161=) n.1035G= n.987G= | |
| 9 | g.91220838C>G | CA373835058 | AUH | c.810G>C (p.Lys270Asn) c.723G>C (p.Lys241Asn) n.82G>C c.840G>C (p.Lys280Asn) c.348G>C (p.Lys116Asn) c.753G>C (p.Lys251Asn) c.486G>C (p.Lys162Asn) c.483G>C (p.Lys161Asn) n.1035G>C n.987G>C | |
| 9 | g.91220838C>T | CA466225564 | AUH | c.810G>A (p.Lys270=) c.723G>A (p.Lys241=) n.82G>A c.840G>A (p.Lys280=) c.348G>A (p.Lys116=) c.753G>A (p.Lys251=) c.486G>A (p.Lys162=) c.483G>A (p.Lys161=) n.1035G>A n.987G>A | dbSNP |
| 9 | g.91220839T>A | CA373835059 | AUH | c.809A>T (p.Lys270Met) c.722A>T (p.Lys241Met) n.81A>T c.839A>T (p.Lys280Met) c.347A>T (p.Lys116Met) c.752A>T (p.Lys251Met) c.485A>T (p.Lys162Met) c.482A>T (p.Lys161Met) n.1034A>T n.986A>T | |
| 9 | g.91220839T>C | CA5119733 | AUH | c.809A>G (p.Lys270Arg) c.722A>G (p.Lys241Arg) n.81A>G c.839A>G (p.Lys280Arg) c.347A>G (p.Lys116Arg) c.752A>G (p.Lys251Arg) c.485A>G (p.Lys162Arg) c.482A>G (p.Lys161Arg) n.1034A>G n.986A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220839T>G | CA373835060 | AUH | c.809A>C (p.Lys270Thr) c.722A>C (p.Lys241Thr) n.81A>C c.839A>C (p.Lys280Thr) c.347A>C (p.Lys116Thr) c.752A>C (p.Lys251Thr) c.485A>C (p.Lys162Thr) c.482A>C (p.Lys161Thr) n.1034A>C n.986A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220839T= | CA1863688911 | AUH | c.809A= (p.Lys270=) c.722A= (p.Lys241=) n.81A= c.839A= (p.Lys280=) c.347A= (p.Lys116=) c.752A= (p.Lys251=) c.485A= (p.Lys162=) c.482A= (p.Lys161=) n.1034A= n.986A= | |
| 9 | g.91220840T>A | CA373835063 | AUH | c.808A>T (p.Lys270Ter) c.721A>T (p.Lys241Ter) n.80A>T c.838A>T (p.Lys280Ter) c.346A>T (p.Lys116Ter) c.751A>T (p.Lys251Ter) c.484A>T (p.Lys162Ter) c.481A>T (p.Lys161Ter) n.1033A>T n.985A>T | |
| 9 | g.91220840T>C | CA373835061 | AUH | c.808A>G (p.Lys270Glu) c.721A>G (p.Lys241Glu) n.80A>G c.838A>G (p.Lys280Glu) c.346A>G (p.Lys116Glu) c.751A>G (p.Lys251Glu) c.484A>G (p.Lys162Glu) c.481A>G (p.Lys161Glu) n.1033A>G n.985A>G | |
| 9 | g.91220840T>G | CA373835062 | AUH | c.808A>C (p.Lys270Gln) c.721A>C (p.Lys241Gln) n.80A>C c.838A>C (p.Lys280Gln) c.346A>C (p.Lys116Gln) c.751A>C (p.Lys251Gln) c.484A>C (p.Lys162Gln) c.481A>C (p.Lys161Gln) n.1033A>C n.985A>C | |
| 9 | g.91220841C>A | CA373835064 | AUH | c.807G>T (p.Arg269Ser) c.720G>T (p.Arg240Ser) n.79G>T c.837G>T (p.Arg279Ser) c.345G>T (p.Arg115Ser) c.750G>T (p.Arg250Ser) c.483G>T (p.Arg161Ser) c.480G>T (p.Arg160Ser) n.1032G>T n.984G>T | |
| 9 | g.91220841C= | CA1863688916 | AUH | c.807G= (p.Arg269=) c.720G= (p.Arg240=) n.79G= c.837G= (p.Arg279=) c.345G= (p.Arg115=) c.750G= (p.Arg250=) c.483G= (p.Arg161=) c.480G= (p.Arg160=) n.1032G= n.984G= | |
| 9 | g.91220841C>G | CA373835065 | AUH | c.807G>C (p.Arg269Ser) c.720G>C (p.Arg240Ser) n.79G>C c.837G>C (p.Arg279Ser) c.345G>C (p.Arg115Ser) c.750G>C (p.Arg250Ser) c.483G>C (p.Arg161Ser) c.480G>C (p.Arg160Ser) n.1032G>C n.984G>C | |
| 9 | g.91220841C>T | CA5119734 | AUH | c.807G>A (p.Arg269=) c.720G>A (p.Arg240=) n.79G>A c.837G>A (p.Arg279=) c.345G>A (p.Arg115=) c.750G>A (p.Arg250=) c.483G>A (p.Arg161=) c.480G>A (p.Arg160=) n.1032G>A n.984G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220842C>A | CA373835066 | AUH | c.806G>T (p.Arg269Met) c.719G>T (p.Arg240Met) n.78G>T c.836G>T (p.Arg279Met) c.344G>T (p.Arg115Met) c.749G>T (p.Arg250Met) c.482G>T (p.Arg161Met) c.479G>T (p.Arg160Met) n.1031G>T n.983G>T | |
| 9 | g.91220842C= | CA1863688920 | AUH | c.806G= (p.Arg269=) c.719G= (p.Arg240=) n.78G= c.836G= (p.Arg279=) c.344G= (p.Arg115=) c.749G= (p.Arg250=) c.482G= (p.Arg161=) c.479G= (p.Arg160=) n.1031G= n.983G= | |
| 9 | g.91220842C>G | CA373835067 | AUH | c.806G>C (p.Arg269Thr) c.719G>C (p.Arg240Thr) n.78G>C c.836G>C (p.Arg279Thr) c.344G>C (p.Arg115Thr) c.749G>C (p.Arg250Thr) c.482G>C (p.Arg161Thr) c.479G>C (p.Arg160Thr) n.1031G>C n.983G>C | |
| 9 | g.91220842C>T | CA195893125 | AUH | c.806G>A (p.Arg269Lys) c.719G>A (p.Arg240Lys) n.78G>A c.836G>A (p.Arg279Lys) c.344G>A (p.Arg115Lys) c.749G>A (p.Arg250Lys) c.482G>A (p.Arg161Lys) c.479G>A (p.Arg160Lys) n.1031G>A n.983G>A | dbSNP |
| 9 | g.91220843T>A | CA373835068 | AUH | c.805A>T (p.Arg269Trp) c.718A>T (p.Arg240Trp) n.77A>T c.835A>T (p.Arg279Trp) c.343A>T (p.Arg115Trp) c.748A>T (p.Arg250Trp) c.481A>T (p.Arg161Trp) c.478A>T (p.Arg160Trp) n.1030A>T n.982A>T | |
| 9 | g.91220843T>C | CA373835069 | AUH | c.805A>G (p.Arg269Gly) c.718A>G (p.Arg240Gly) n.77A>G c.835A>G (p.Arg279Gly) c.343A>G (p.Arg115Gly) c.748A>G (p.Arg250Gly) c.481A>G (p.Arg161Gly) c.478A>G (p.Arg160Gly) n.1030A>G n.982A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220843T>G | CA466225580 | AUH | c.805A>C (p.Arg269=) c.718A>C (p.Arg240=) n.77A>C c.835A>C (p.Arg279=) c.343A>C (p.Arg115=) c.748A>C (p.Arg250=) c.481A>C (p.Arg161=) c.478A>C (p.Arg160=) n.1030A>C n.982A>C | |
| 9 | g.91220843T= | CA1863688924 | AUH | c.805A= (p.Arg269=) c.718A= (p.Arg240=) n.77A= c.835A= (p.Arg279=) c.343A= (p.Arg115=) c.748A= (p.Arg250=) c.481A= (p.Arg161=) c.478A= (p.Arg160=) n.1030A= n.982A= | |
| 9 | g.91220844G>A | CA5119735 | AUH | c.804C>T (p.Tyr268=) c.717C>T (p.Tyr239=) n.76C>T c.834C>T (p.Tyr278=) c.342C>T (p.Tyr114=) c.747C>T (p.Tyr249=) c.480C>T (p.Tyr160=) c.477C>T (p.Tyr159=) n.1029C>T n.981C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220844G>C | CA373835070 | AUH | c.804C>G (p.Tyr268Ter) c.717C>G (p.Tyr239Ter) n.76C>G c.834C>G (p.Tyr278Ter) c.342C>G (p.Tyr114Ter) c.747C>G (p.Tyr249Ter) c.480C>G (p.Tyr160Ter) c.477C>G (p.Tyr159Ter) n.1029C>G n.981C>G | |
| 9 | g.91220844G= | CA1863688927 | AUH | c.804C= (p.Tyr268=) c.717C= (p.Tyr239=) n.76C= c.834C= (p.Tyr278=) c.342C= (p.Tyr114=) c.747C= (p.Tyr249=) c.480C= (p.Tyr160=) c.477C= (p.Tyr159=) n.1029C= n.981C= | |
| 9 | g.91220844G>T | CA373835071 | AUH | c.804C>A (p.Tyr268Ter) c.717C>A (p.Tyr239Ter) n.76C>A c.834C>A (p.Tyr278Ter) c.342C>A (p.Tyr114Ter) c.747C>A (p.Tyr249Ter) c.480C>A (p.Tyr160Ter) c.477C>A (p.Tyr159Ter) n.1029C>A n.981C>A | |
| 9 | g.91220845T>A | CA373835072 | AUH | c.803A>T (p.Tyr268Phe) c.716A>T (p.Tyr239Phe) n.75A>T c.833A>T (p.Tyr278Phe) c.341A>T (p.Tyr114Phe) c.746A>T (p.Tyr249Phe) c.479A>T (p.Tyr160Phe) c.476A>T (p.Tyr159Phe) n.1028A>T n.980A>T | |
| 9 | g.91220845T>C | CA373835074 | AUH | c.803A>G (p.Tyr268Cys) c.716A>G (p.Tyr239Cys) n.75A>G c.833A>G (p.Tyr278Cys) c.341A>G (p.Tyr114Cys) c.746A>G (p.Tyr249Cys) c.479A>G (p.Tyr160Cys) c.476A>G (p.Tyr159Cys) n.1028A>G n.980A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220845T>G | CA373835073 | AUH | c.803A>C (p.Tyr268Ser) c.716A>C (p.Tyr239Ser) n.75A>C c.833A>C (p.Tyr278Ser) c.341A>C (p.Tyr114Ser) c.746A>C (p.Tyr249Ser) c.479A>C (p.Tyr160Ser) c.476A>C (p.Tyr159Ser) n.1028A>C n.980A>C | |
| 9 | g.91220845T= | CA1863688929 | AUH | c.803A= (p.Tyr268=) c.716A= (p.Tyr239=) n.75A= c.833A= (p.Tyr278=) c.341A= (p.Tyr114=) c.746A= (p.Tyr249=) c.479A= (p.Tyr160=) c.476A= (p.Tyr159=) n.1028A= n.980A= | |
| 9 | g.91220846A>C | CA373835075 | AUH | c.802T>G (p.Tyr268Asp) c.715T>G (p.Tyr239Asp) n.74T>G c.832T>G (p.Tyr278Asp) c.340T>G (p.Tyr114Asp) c.745T>G (p.Tyr249Asp) c.478T>G (p.Tyr160Asp) c.475T>G (p.Tyr159Asp) n.1027T>G n.979T>G | |
| 9 | g.91220846A>G | CA373835076 | AUH | c.802T>C (p.Tyr268His) c.715T>C (p.Tyr239His) n.74T>C c.832T>C (p.Tyr278His) c.340T>C (p.Tyr114His) c.745T>C (p.Tyr249His) c.478T>C (p.Tyr160His) c.475T>C (p.Tyr159His) n.1027T>C n.979T>C | |
| 9 | g.91220846A>T | CA373835077 | AUH | c.802T>A (p.Tyr268Asn) c.715T>A (p.Tyr239Asn) n.74T>A c.832T>A (p.Tyr278Asn) c.340T>A (p.Tyr114Asn) c.745T>A (p.Tyr249Asn) c.478T>A (p.Tyr160Asn) c.475T>A (p.Tyr159Asn) n.1027T>A n.979T>A | |
| 9 | g.91220847G>A | CA466225590 | AUH | c.801C>T (p.Ala267=) c.714C>T (p.Ala238=) n.73C>T c.831C>T (p.Ala277=) c.339C>T (p.Ala113=) c.744C>T (p.Ala248=) c.477C>T (p.Ala159=) c.474C>T (p.Ala158=) n.1026C>T n.978C>T | gnomAD v4 |
| 9 | g.91220847G>C | CA466225592 | AUH | c.801C>G (p.Ala267=) c.714C>G (p.Ala238=) n.73C>G c.831C>G (p.Ala277=) c.339C>G (p.Ala113=) c.744C>G (p.Ala248=) c.477C>G (p.Ala159=) c.474C>G (p.Ala158=) n.1026C>G n.978C>G | |
| 9 | g.91220847G>T | CA466225594 | AUH | c.801C>A (p.Ala267=) c.714C>A (p.Ala238=) n.73C>A c.831C>A (p.Ala277=) c.339C>A (p.Ala113=) c.744C>A (p.Ala248=) c.477C>A (p.Ala159=) c.474C>A (p.Ala158=) n.1026C>A n.978C>A | gnomAD v4 |
| 9 | g.91220848G>A | CA373835078 | AUH | c.800C>T (p.Ala267Val) c.713C>T (p.Ala238Val) n.72C>T c.830C>T (p.Ala277Val) c.338C>T (p.Ala113Val) c.743C>T (p.Ala248Val) c.476C>T (p.Ala159Val) c.473C>T (p.Ala158Val) n.1025C>T n.977C>T | gnomAD v4 |
| 9 | g.91220848G>C | CA373835079 | AUH | c.800C>G (p.Ala267Gly) c.713C>G (p.Ala238Gly) n.72C>G c.830C>G (p.Ala277Gly) c.338C>G (p.Ala113Gly) c.743C>G (p.Ala248Gly) c.476C>G (p.Ala159Gly) c.473C>G (p.Ala158Gly) n.1025C>G n.977C>G | gnomAD v4 |
| 9 | g.91220848G>T | CA373835080 | AUH | c.800C>A (p.Ala267Asp) c.713C>A (p.Ala238Asp) n.72C>A c.830C>A (p.Ala277Asp) c.338C>A (p.Ala113Asp) c.743C>A (p.Ala248Asp) c.476C>A (p.Ala159Asp) c.473C>A (p.Ala158Asp) n.1025C>A n.977C>A | |
| 9 | g.91220849C>A | CA373835081 | AUH | c.799G>T (p.Ala267Ser) c.712G>T (p.Ala238Ser) n.71G>T c.829G>T (p.Ala277Ser) c.337G>T (p.Ala113Ser) c.742G>T (p.Ala248Ser) c.475G>T (p.Ala159Ser) c.472G>T (p.Ala158Ser) n.1024G>T n.976G>T | |
| 9 | g.91220849C>G | CA373835082 | AUH | c.799G>C (p.Ala267Pro) c.712G>C (p.Ala238Pro) n.71G>C c.829G>C (p.Ala277Pro) c.337G>C (p.Ala113Pro) c.742G>C (p.Ala248Pro) c.475G>C (p.Ala159Pro) c.472G>C (p.Ala158Pro) n.1024G>C n.976G>C | |
| 9 | g.91220849C>T | CA373835083 | AUH | c.799G>A (p.Ala267Thr) c.712G>A (p.Ala238Thr) n.71G>A c.829G>A (p.Ala277Thr) c.337G>A (p.Ala113Thr) c.742G>A (p.Ala248Thr) c.475G>A (p.Ala159Thr) c.472G>A (p.Ala158Thr) n.1024G>A n.976G>A | |
| 9 | g.91220850C>A | CA466225601 | AUH | c.798G>T (p.Ala266=) c.711G>T (p.Ala237=) n.70G>T c.828G>T (p.Ala276=) c.336G>T (p.Ala112=) c.741G>T (p.Ala247=) c.474G>T (p.Ala158=) c.471G>T (p.Ala157=) n.1023G>T n.975G>T | |
| 9 | g.91220850C= | CA1863688934 | AUH | c.798G= (p.Ala266=) c.711G= (p.Ala237=) n.70G= c.828G= (p.Ala276=) c.336G= (p.Ala112=) c.741G= (p.Ala247=) c.474G= (p.Ala158=) c.471G= (p.Ala157=) n.1023G= n.975G= | |
| 9 | g.91220850C>G | CA466225602 | AUH | c.798G>C (p.Ala266=) c.711G>C (p.Ala237=) n.70G>C c.828G>C (p.Ala276=) c.336G>C (p.Ala112=) c.741G>C (p.Ala247=) c.474G>C (p.Ala158=) c.471G>C (p.Ala157=) n.1023G>C n.975G>C | |
| 9 | g.91220850C>T | CA320459 | AUH | c.798G>A (p.Ala266=) c.711G>A (p.Ala237=) n.70G>A c.828G>A (p.Ala276=) c.336G>A (p.Ala112=) c.741G>A (p.Ala247=) c.474G>A (p.Ala158=) c.471G>A (p.Ala157=) n.1023G>A n.975G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220851G>A | CA5119736 | AUH | c.797C>T (p.Ala266Val) c.710C>T (p.Ala237Val) n.69C>T c.827C>T (p.Ala276Val) c.335C>T (p.Ala112Val) c.740C>T (p.Ala247Val) c.473C>T (p.Ala158Val) c.470C>T (p.Ala157Val) n.1022C>T n.974C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220851G>C | CA373835085 | AUH | c.797C>G (p.Ala266Gly) c.710C>G (p.Ala237Gly) n.69C>G c.827C>G (p.Ala276Gly) c.335C>G (p.Ala112Gly) c.740C>G (p.Ala247Gly) c.473C>G (p.Ala158Gly) c.470C>G (p.Ala157Gly) n.1022C>G n.974C>G | |
| 9 | g.91220851G= | CA1863688939 | AUH | c.797C= (p.Ala266=) c.710C= (p.Ala237=) n.69C= c.827C= (p.Ala276=) c.335C= (p.Ala112=) c.740C= (p.Ala247=) c.473C= (p.Ala158=) c.470C= (p.Ala157=) n.1022C= n.974C= | |
| 9 | g.91220851G>T | CA373835084 | AUH | c.797C>A (p.Ala266Glu) c.710C>A (p.Ala237Glu) n.69C>A c.827C>A (p.Ala276Glu) c.335C>A (p.Ala112Glu) c.740C>A (p.Ala247Glu) c.473C>A (p.Ala158Glu) c.470C>A (p.Ala157Glu) n.1022C>A n.974C>A | |
| 9 | g.91220852C>A | CA373835086 | AUH | c.796G>T (p.Ala266Ser) c.709G>T (p.Ala237Ser) n.68G>T c.826G>T (p.Ala276Ser) c.334G>T (p.Ala112Ser) c.739G>T (p.Ala247Ser) c.472G>T (p.Ala158Ser) c.469G>T (p.Ala157Ser) n.1021G>T n.973G>T | |
| 9 | g.91220852C= | CA1863688942 | AUH | c.796G= (p.Ala266=) c.709G= (p.Ala237=) n.68G= c.826G= (p.Ala276=) c.334G= (p.Ala112=) c.739G= (p.Ala247=) c.472G= (p.Ala158=) c.469G= (p.Ala157=) n.1021G= n.973G= | |
| 9 | g.91220852C>G | CA373835087 | AUH | c.796G>C (p.Ala266Pro) c.709G>C (p.Ala237Pro) n.68G>C c.826G>C (p.Ala276Pro) c.334G>C (p.Ala112Pro) c.739G>C (p.Ala247Pro) c.472G>C (p.Ala158Pro) c.469G>C (p.Ala157Pro) n.1021G>C n.973G>C | |
| 9 | g.91220852C>T | CA5119737 | AUH | c.796G>A (p.Ala266Thr) c.709G>A (p.Ala237Thr) n.68G>A c.826G>A (p.Ala276Thr) c.334G>A (p.Ala112Thr) c.739G>A (p.Ala247Thr) c.472G>A (p.Ala158Thr) c.469G>A (p.Ala157Thr) n.1021G>A n.973G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220853G>A | CA5119738 | AUH | c.795C>T (p.Asp265=) c.708C>T (p.Asp236=) n.67C>T c.825C>T (p.Asp275=) c.333C>T (p.Asp111=) c.738C>T (p.Asp246=) c.471C>T (p.Asp157=) c.468C>T (p.Asp156=) n.1020C>T n.972C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220853G>C | CA373835088 | AUH | c.795C>G (p.Asp265Glu) c.708C>G (p.Asp236Glu) n.67C>G c.825C>G (p.Asp275Glu) c.333C>G (p.Asp111Glu) c.738C>G (p.Asp246Glu) c.471C>G (p.Asp157Glu) c.468C>G (p.Asp156Glu) n.1020C>G n.972C>G | |
| 9 | g.91220853G= | CA1863688945 | AUH | c.795C= (p.Asp265=) c.708C= (p.Asp236=) n.67C= c.825C= (p.Asp275=) c.333C= (p.Asp111=) c.738C= (p.Asp246=) c.471C= (p.Asp157=) c.468C= (p.Asp156=) n.1020C= n.972C= | |
| 9 | g.91220853G>T | CA373835089 | AUH | c.795C>A (p.Asp265Glu) c.708C>A (p.Asp236Glu) n.67C>A c.825C>A (p.Asp275Glu) c.333C>A (p.Asp111Glu) c.738C>A (p.Asp246Glu) c.471C>A (p.Asp157Glu) c.468C>A (p.Asp156Glu) n.1020C>A n.972C>A | |
| 9 | g.91220854T>A | CA373835090 | AUH | c.794A>T (p.Asp265Val) c.707A>T (p.Asp236Val) n.66A>T c.824A>T (p.Asp275Val) c.332A>T (p.Asp111Val) c.737A>T (p.Asp246Val) c.470A>T (p.Asp157Val) c.467A>T (p.Asp156Val) n.1019A>T n.971A>T | |
| 9 | g.91220854T>C | CA373835091 | AUH | c.794A>G (p.Asp265Gly) c.707A>G (p.Asp236Gly) n.66A>G c.824A>G (p.Asp275Gly) c.332A>G (p.Asp111Gly) c.737A>G (p.Asp246Gly) c.470A>G (p.Asp157Gly) c.467A>G (p.Asp156Gly) n.1019A>G n.971A>G | |
| 9 | g.91220854T>G | CA373835092 | AUH | c.794A>C (p.Asp265Ala) c.707A>C (p.Asp236Ala) n.66A>C c.824A>C (p.Asp275Ala) c.332A>C (p.Asp111Ala) c.737A>C (p.Asp246Ala) c.470A>C (p.Asp157Ala) c.467A>C (p.Asp156Ala) n.1019A>C n.971A>C | |
| 9 | g.91220855C>A | CA373835093 | AUH | c.793G>T (p.Asp265Tyr) c.706G>T (p.Asp236Tyr) n.65G>T c.823G>T (p.Asp275Tyr) c.331G>T (p.Asp111Tyr) c.736G>T (p.Asp246Tyr) c.469G>T (p.Asp157Tyr) c.466G>T (p.Asp156Tyr) n.1018G>T n.970G>T | gnomAD v4 |
| 9 | g.91220855C= | CA1863688949 | AUH | c.793G= (p.Asp265=) c.706G= (p.Asp236=) n.65G= c.823G= (p.Asp275=) c.331G= (p.Asp111=) c.736G= (p.Asp246=) c.469G= (p.Asp157=) c.466G= (p.Asp156=) n.1018G= n.970G= | |
| 9 | g.91220855C>G | CA373835094 | AUH | c.793G>C (p.Asp265His) c.706G>C (p.Asp236His) n.65G>C c.823G>C (p.Asp275His) c.331G>C (p.Asp111His) c.736G>C (p.Asp246His) c.469G>C (p.Asp157His) c.466G>C (p.Asp156His) n.1018G>C n.970G>C | gnomAD v4 |
| 9 | g.91220855C>T | CA373835095 | AUH | c.793G>A (p.Asp265Asn) c.706G>A (p.Asp236Asn) n.65G>A c.823G>A (p.Asp275Asn) c.331G>A (p.Asp111Asn) c.736G>A (p.Asp246Asn) c.469G>A (p.Asp157Asn) c.466G>A (p.Asp156Asn) n.1018G>A n.970G>A | dbSNP gnomAD v4 |
| 9 | g.91220856T>A | CA466225614 | AUH | c.792A>T (p.Gly264=) c.705A>T (p.Gly235=) n.64A>T c.822A>T (p.Gly274=) c.330A>T (p.Gly110=) c.735A>T (p.Gly245=) c.468A>T (p.Gly156=) c.465A>T (p.Gly155=) n.1017A>T n.969A>T | |
| 9 | g.91220856T>C | CA466225615 | AUH | c.792A>G (p.Gly264=) c.705A>G (p.Gly235=) n.64A>G c.822A>G (p.Gly274=) c.330A>G (p.Gly110=) c.735A>G (p.Gly245=) c.468A>G (p.Gly156=) c.465A>G (p.Gly155=) n.1017A>G n.969A>G | |
| 9 | g.91220856T>G | CA466225617 | AUH | c.792A>C (p.Gly264=) c.705A>C (p.Gly235=) n.64A>C c.822A>C (p.Gly274=) c.330A>C (p.Gly110=) c.735A>C (p.Gly245=) c.468A>C (p.Gly156=) c.465A>C (p.Gly155=) n.1017A>C n.969A>C | |
| 9 | g.91220857C>A | CA373835096 | AUH | c.791G>T (p.Gly264Val) c.704G>T (p.Gly235Val) n.63G>T c.821G>T (p.Gly274Val) c.329G>T (p.Gly110Val) c.734G>T (p.Gly245Val) c.467G>T (p.Gly156Val) c.464G>T (p.Gly155Val) n.1016G>T n.968G>T | |
| 9 | g.91220857C= | CA1863688952 | AUH | c.791G= (p.Gly264=) c.704G= (p.Gly235=) n.63G= c.821G= (p.Gly274=) c.329G= (p.Gly110=) c.734G= (p.Gly245=) c.467G= (p.Gly156=) c.464G= (p.Gly155=) n.1016G= n.968G= | |
| 9 | g.91220857C>G | CA195893132 | AUH | c.791G>C (p.Gly264Ala) c.704G>C (p.Gly235Ala) n.63G>C c.821G>C (p.Gly274Ala) c.329G>C (p.Gly110Ala) c.734G>C (p.Gly245Ala) c.467G>C (p.Gly156Ala) c.464G>C (p.Gly155Ala) n.1016G>C n.968G>C | dbSNP |
| 9 | g.91220857C>T | CA324627 | AUH | c.791G>A (p.Gly264Glu) c.704G>A (p.Gly235Glu) n.63G>A c.821G>A (p.Gly274Glu) c.329G>A (p.Gly110Glu) c.734G>A (p.Gly245Glu) c.467G>A (p.Gly156Glu) c.464G>A (p.Gly155Glu) n.1016G>A n.968G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220858C>A | CA373835097 | AUH | c.790G>T (p.Gly264Ter) c.703G>T (p.Gly235Ter) n.62G>T c.820G>T (p.Gly274Ter) c.328G>T (p.Gly110Ter) c.733G>T (p.Gly245Ter) c.466G>T (p.Gly156Ter) c.463G>T (p.Gly155Ter) n.1015G>T n.967G>T | COSMIC |
| 9 | g.91220858C= | CA1863688955 | AUH | c.790G= (p.Gly264=) c.703G= (p.Gly235=) n.62G= c.820G= (p.Gly274=) c.328G= (p.Gly110=) c.733G= (p.Gly245=) c.466G= (p.Gly156=) c.463G= (p.Gly155=) n.1015G= n.967G= | |
| 9 | g.91220858C>G | CA373835098 | AUH | c.790G>C (p.Gly264Arg) c.703G>C (p.Gly235Arg) n.62G>C c.820G>C (p.Gly274Arg) c.328G>C (p.Gly110Arg) c.733G>C (p.Gly245Arg) c.466G>C (p.Gly156Arg) c.463G>C (p.Gly155Arg) n.1015G>C n.967G>C | |
| 9 | g.91220858C>T | CA373835099 | AUH | c.790G>A (p.Gly264Arg) c.703G>A (p.Gly235Arg) n.62G>A c.820G>A (p.Gly274Arg) c.328G>A (p.Gly110Arg) c.733G>A (p.Gly245Arg) c.466G>A (p.Gly156Arg) c.463G>A (p.Gly155Arg) n.1015G>A n.967G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220859C>A | CA373835100 | AUH | c.789G>T (p.Glu263Asp) c.702G>T (p.Glu234Asp) n.61G>T c.819G>T (p.Glu273Asp) c.327G>T (p.Glu109Asp) c.732G>T (p.Glu244Asp) c.465G>T (p.Glu155Asp) c.462G>T (p.Glu154Asp) n.1014G>T n.966G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220859C= | CA1863688958 | AUH | c.789G= (p.Glu263=) c.702G= (p.Glu234=) n.61G= c.819G= (p.Glu273=) c.327G= (p.Glu109=) c.732G= (p.Glu244=) c.465G= (p.Glu155=) c.462G= (p.Glu154=) n.1014G= n.966G= | |
| 9 | g.91220859C>G | CA373835101 | AUH | c.789G>C (p.Glu263Asp) c.702G>C (p.Glu234Asp) n.61G>C c.819G>C (p.Glu273Asp) c.327G>C (p.Glu109Asp) c.732G>C (p.Glu244Asp) c.465G>C (p.Glu155Asp) c.462G>C (p.Glu154Asp) n.1014G>C n.966G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220859C>T | CA466225623 | AUH | c.789G>A (p.Glu263=) c.702G>A (p.Glu234=) n.61G>A c.819G>A (p.Glu273=) c.327G>A (p.Glu109=) c.732G>A (p.Glu244=) c.465G>A (p.Glu155=) c.462G>A (p.Glu154=) n.1014G>A n.966G>A | |
| 9 | g.91220860T>A | CA373835104 | AUH | c.788A>T (p.Glu263Val) c.701A>T (p.Glu234Val) n.60A>T c.818A>T (p.Glu273Val) c.326A>T (p.Glu109Val) c.731A>T (p.Glu244Val) c.464A>T (p.Glu155Val) c.461A>T (p.Glu154Val) n.1013A>T n.965A>T | |
| 9 | g.91220860T>C | CA373835102 | AUH | c.788A>G (p.Glu263Gly) c.701A>G (p.Glu234Gly) n.60A>G c.818A>G (p.Glu273Gly) c.326A>G (p.Glu109Gly) c.731A>G (p.Glu244Gly) c.464A>G (p.Glu155Gly) c.461A>G (p.Glu154Gly) n.1013A>G n.965A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220860T>G | CA373835103 | AUH | c.788A>C (p.Glu263Ala) c.701A>C (p.Glu234Ala) n.60A>C c.818A>C (p.Glu273Ala) c.326A>C (p.Glu109Ala) c.731A>C (p.Glu244Ala) c.464A>C (p.Glu155Ala) c.461A>C (p.Glu154Ala) n.1013A>C n.965A>C | |
| 9 | g.91220860T= | CA1863688959 | AUH | c.788A= (p.Glu263=) c.701A= (p.Glu234=) n.60A= c.818A= (p.Glu273=) c.326A= (p.Glu109=) c.731A= (p.Glu244=) c.464A= (p.Glu155=) c.461A= (p.Glu154=) n.1013A= n.965A= | |
| 9 | g.91220861C>A | CA373835105 | AUH | c.787G>T (p.Glu263Ter) c.700G>T (p.Glu234Ter) n.59G>T c.817G>T (p.Glu273Ter) c.325G>T (p.Glu109Ter) c.730G>T (p.Glu244Ter) c.463G>T (p.Glu155Ter) c.460G>T (p.Glu154Ter) n.1012G>T n.964G>T | |
| 9 | g.91220861C= | CA1863688963 | AUH | c.787G= (p.Glu263=) c.700G= (p.Glu234=) n.59G= c.817G= (p.Glu273=) c.325G= (p.Glu109=) c.730G= (p.Glu244=) c.463G= (p.Glu155=) c.460G= (p.Glu154=) n.1012G= n.964G= | |
| 9 | g.91220861C>G | CA373835106 | AUH | c.787G>C (p.Glu263Gln) c.700G>C (p.Glu234Gln) n.59G>C c.817G>C (p.Glu273Gln) c.325G>C (p.Glu109Gln) c.730G>C (p.Glu244Gln) c.463G>C (p.Glu155Gln) c.460G>C (p.Glu154Gln) n.1012G>C n.964G>C | dbSNP gnomAD v4 |
| 9 | g.91220861C>T | CA373835107 | AUH | c.787G>A (p.Glu263Lys) c.700G>A (p.Glu234Lys) n.59G>A c.817G>A (p.Glu273Lys) c.325G>A (p.Glu109Lys) c.730G>A (p.Glu244Lys) c.463G>A (p.Glu155Lys) c.460G>A (p.Glu154Lys) n.1012G>A n.964G>A | |
| 9 | g.91220862C>A | CA373835108 | AUH | c.786G>T (p.Gln262His) c.699G>T (p.Gln233His) n.58G>T c.816G>T (p.Gln272His) c.324G>T (p.Gln108His) c.729G>T (p.Gln243His) c.462G>T (p.Gln154His) c.459G>T (p.Gln153His) n.1011G>T n.963G>T | |
| 9 | g.91220862C>G | CA373835109 | AUH | c.786G>C (p.Gln262His) c.699G>C (p.Gln233His) n.58G>C c.816G>C (p.Gln272His) c.324G>C (p.Gln108His) c.729G>C (p.Gln243His) c.462G>C (p.Gln154His) c.459G>C (p.Gln153His) n.1011G>C n.963G>C | |
| 9 | g.91220862C>T | CA466225630 | AUH | c.786G>A (p.Gln262=) c.699G>A (p.Gln233=) n.58G>A c.816G>A (p.Gln272=) c.324G>A (p.Gln108=) c.729G>A (p.Gln243=) c.462G>A (p.Gln154=) c.459G>A (p.Gln153=) n.1011G>A n.963G>A | |
| 9 | g.91220863T>A | CA373835112 | AUH | c.785A>T (p.Gln262Leu) c.698A>T (p.Gln233Leu) n.57A>T c.815A>T (p.Gln272Leu) c.323A>T (p.Gln108Leu) c.728A>T (p.Gln243Leu) c.461A>T (p.Gln154Leu) c.458A>T (p.Gln153Leu) n.1010A>T n.962A>T | |
| 9 | g.91220863T>C | CA373835110 | AUH | c.785A>G (p.Gln262Arg) c.698A>G (p.Gln233Arg) n.57A>G c.815A>G (p.Gln272Arg) c.323A>G (p.Gln108Arg) c.728A>G (p.Gln243Arg) c.461A>G (p.Gln154Arg) c.458A>G (p.Gln153Arg) n.1010A>G n.962A>G | gnomAD v4 |
| 9 | g.91220863T>G | CA373835111 | AUH | c.785A>C (p.Gln262Pro) c.698A>C (p.Gln233Pro) n.57A>C c.815A>C (p.Gln272Pro) c.323A>C (p.Gln108Pro) c.728A>C (p.Gln243Pro) c.461A>C (p.Gln154Pro) c.458A>C (p.Gln153Pro) n.1010A>C n.962A>C | |
| 9 | g.91220864G>A | CA373835113 | AUH | c.784C>T (p.Gln262Ter) c.697C>T (p.Gln233Ter) n.56C>T c.814C>T (p.Gln272Ter) c.322C>T (p.Gln108Ter) c.727C>T (p.Gln243Ter) c.460C>T (p.Gln154Ter) c.457C>T (p.Gln153Ter) n.1009C>T n.961C>T | |
| 9 | g.91220864G>C | CA373835114 | AUH | c.784C>G (p.Gln262Glu) c.697C>G (p.Gln233Glu) n.56C>G c.814C>G (p.Gln272Glu) c.322C>G (p.Gln108Glu) c.727C>G (p.Gln243Glu) c.460C>G (p.Gln154Glu) c.457C>G (p.Gln153Glu) n.1009C>G n.961C>G | |
| 9 | g.91220864G>T | CA373835115 | AUH | c.784C>A (p.Gln262Lys) c.697C>A (p.Gln233Lys) n.56C>A c.814C>A (p.Gln272Lys) c.322C>A (p.Gln108Lys) c.727C>A (p.Gln243Lys) c.460C>A (p.Gln154Lys) c.457C>A (p.Gln153Lys) n.1009C>A n.961C>A | |
| 9 | g.91220865G>A | CA466225634 | AUH | c.783C>T (p.Asn261=) c.696C>T (p.Asn232=) n.55C>T c.813C>T (p.Asn271=) c.321C>T (p.Asn107=) c.726C>T (p.Asn242=) c.459C>T (p.Asn153=) c.456C>T (p.Asn152=) n.1008C>T n.960C>T | |
| 9 | g.91220865G>C | CA373835116 | AUH | c.783C>G (p.Asn261Lys) c.696C>G (p.Asn232Lys) n.55C>G c.813C>G (p.Asn271Lys) c.321C>G (p.Asn107Lys) c.726C>G (p.Asn242Lys) c.459C>G (p.Asn153Lys) c.456C>G (p.Asn152Lys) n.1008C>G n.960C>G | |
| 9 | g.91220865G>T | CA373835117 | AUH | c.783C>A (p.Asn261Lys) c.696C>A (p.Asn232Lys) n.55C>A c.813C>A (p.Asn271Lys) c.321C>A (p.Asn107Lys) c.726C>A (p.Asn242Lys) c.459C>A (p.Asn153Lys) c.456C>A (p.Asn152Lys) n.1008C>A n.960C>A | |
| 9 | g.91220866T>A | CA373835118 | AUH | c.782A>T (p.Asn261Ile) c.695A>T (p.Asn232Ile) n.54A>T c.812A>T (p.Asn271Ile) c.320A>T (p.Asn107Ile) c.725A>T (p.Asn242Ile) c.458A>T (p.Asn153Ile) c.455A>T (p.Asn152Ile) n.1007A>T n.959A>T | |
| 9 | g.91220866T>C | CA373835119 | AUH | c.782A>G (p.Asn261Ser) c.695A>G (p.Asn232Ser) n.54A>G c.812A>G (p.Asn271Ser) c.320A>G (p.Asn107Ser) c.725A>G (p.Asn242Ser) c.458A>G (p.Asn153Ser) c.455A>G (p.Asn152Ser) n.1007A>G n.959A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220866T>G | CA373835120 | AUH | c.782A>C (p.Asn261Thr) c.695A>C (p.Asn232Thr) n.54A>C c.812A>C (p.Asn271Thr) c.320A>C (p.Asn107Thr) c.725A>C (p.Asn242Thr) c.458A>C (p.Asn153Thr) c.455A>C (p.Asn152Thr) n.1007A>C n.959A>C | |
| 9 | g.91220866T= | CA1863688966 | AUH | c.782A= (p.Asn261=) c.695A= (p.Asn232=) n.54A= c.812A= (p.Asn271=) c.320A= (p.Asn107=) c.725A= (p.Asn242=) c.458A= (p.Asn153=) c.455A= (p.Asn152=) n.1007A= n.959A= | |
| 9 | g.91220867T>A | CA373835121 | AUH | c.781A>T (p.Asn261Tyr) c.694A>T (p.Asn232Tyr) n.53A>T c.811A>T (p.Asn271Tyr) c.319A>T (p.Asn107Tyr) c.724A>T (p.Asn242Tyr) c.457A>T (p.Asn153Tyr) c.454A>T (p.Asn152Tyr) n.1006A>T n.958A>T | |
| 9 | g.91220867T>C | CA373835122 | AUH | c.781A>G (p.Asn261Asp) c.694A>G (p.Asn232Asp) n.53A>G c.811A>G (p.Asn271Asp) c.319A>G (p.Asn107Asp) c.724A>G (p.Asn242Asp) c.457A>G (p.Asn153Asp) c.454A>G (p.Asn152Asp) n.1006A>G n.958A>G | |
| 9 | g.91220867T>G | CA373835123 | AUH | c.781A>C (p.Asn261His) c.694A>C (p.Asn232His) n.53A>C c.811A>C (p.Asn271His) c.319A>C (p.Asn107His) c.724A>C (p.Asn242His) c.457A>C (p.Asn153His) c.454A>C (p.Asn152His) n.1006A>C n.958A>C | |
| 9 | g.91220868C>A | CA373835124 | AUH | c.780G>T (p.Gln260His) c.693G>T (p.Gln231His) n.52G>T c.810G>T (p.Gln270His) c.318G>T (p.Gln106His) c.723G>T (p.Gln241His) c.456G>T (p.Gln152His) c.453G>T (p.Gln151His) n.1005G>T n.957G>T | |
| 9 | g.91220868C= | CA1863688969 | AUH | c.780G= (p.Gln260=) c.693G= (p.Gln231=) n.52G= c.810G= (p.Gln270=) c.318G= (p.Gln106=) c.723G= (p.Gln241=) c.456G= (p.Gln152=) c.453G= (p.Gln151=) n.1005G= n.957G= | |
| 9 | g.91220868C>G | CA195893135 | AUH | c.780G>C (p.Gln260His) c.693G>C (p.Gln231His) n.52G>C c.810G>C (p.Gln270His) c.318G>C (p.Gln106His) c.723G>C (p.Gln241His) c.456G>C (p.Gln152His) c.453G>C (p.Gln151His) n.1005G>C n.957G>C | ClinVar dbSNP |
| 9 | g.91220868C>T | CA466225642 | AUH | c.780G>A (p.Gln260=) c.693G>A (p.Gln231=) n.52G>A c.810G>A (p.Gln270=) c.318G>A (p.Gln106=) c.723G>A (p.Gln241=) c.456G>A (p.Gln152=) c.453G>A (p.Gln151=) n.1005G>A n.957G>A | |
| 9 | g.91220869T>A | CA373835125 | AUH | c.779A>T (p.Gln260Leu) c.692A>T (p.Gln231Leu) n.51A>T c.809A>T (p.Gln270Leu) c.317A>T (p.Gln106Leu) c.722A>T (p.Gln241Leu) c.455A>T (p.Gln152Leu) c.452A>T (p.Gln151Leu) n.1004A>T n.956A>T | |
| 9 | g.91220869T>C | CA373835127 | AUH | c.779A>G (p.Gln260Arg) c.692A>G (p.Gln231Arg) n.51A>G c.809A>G (p.Gln270Arg) c.317A>G (p.Gln106Arg) c.722A>G (p.Gln241Arg) c.455A>G (p.Gln152Arg) c.452A>G (p.Gln151Arg) n.1004A>G n.956A>G | gnomAD v4 |
| 9 | g.91220869T>G | CA373835126 | AUH | c.779A>C (p.Gln260Pro) c.692A>C (p.Gln231Pro) n.51A>C c.809A>C (p.Gln270Pro) c.317A>C (p.Gln106Pro) c.722A>C (p.Gln241Pro) c.455A>C (p.Gln152Pro) c.452A>C (p.Gln151Pro) n.1004A>C n.956A>C | |
| 9 | g.91220870G>A | CA373835128 | AUH | c.778C>T (p.Gln260Ter) c.691C>T (p.Gln231Ter) n.50C>T c.808C>T (p.Gln270Ter) c.316C>T (p.Gln106Ter) c.721C>T (p.Gln241Ter) c.454C>T (p.Gln152Ter) c.451C>T (p.Gln151Ter) n.1003C>T n.955C>T | gnomAD v4 |
| 9 | g.91220870G>C | CA373835129 | AUH | c.778C>G (p.Gln260Glu) c.691C>G (p.Gln231Glu) n.50C>G c.808C>G (p.Gln270Glu) c.316C>G (p.Gln106Glu) c.721C>G (p.Gln241Glu) c.454C>G (p.Gln152Glu) c.451C>G (p.Gln151Glu) n.1003C>G n.955C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220870G= | CA1863688974 | AUH | c.778C= (p.Gln260=) c.691C= (p.Gln231=) n.50C= c.808C= (p.Gln270=) c.316C= (p.Gln106=) c.721C= (p.Gln241=) c.454C= (p.Gln152=) c.451C= (p.Gln151=) n.1003C= n.955C= | |
| 9 | g.91220870G>T | CA373835130 | AUH | c.778C>A (p.Gln260Lys) c.691C>A (p.Gln231Lys) n.50C>A c.808C>A (p.Gln270Lys) c.316C>A (p.Gln106Lys) c.721C>A (p.Gln241Lys) c.454C>A (p.Gln152Lys) c.451C>A (p.Gln151Lys) n.1003C>A n.955C>A | |
| 9 | g.91220871T>A | CA373835131 | AUH | c.777A>T (p.Glu259Asp) c.690A>T (p.Glu230Asp) n.49A>T c.807A>T (p.Glu269Asp) c.315A>T (p.Glu105Asp) c.720A>T (p.Glu240Asp) c.453A>T (p.Glu151Asp) c.450A>T (p.Glu150Asp) n.1002A>T n.954A>T | |
| 9 | g.91220871T>C | CA466225648 | AUH | c.777A>G (p.Glu259=) c.690A>G (p.Glu230=) n.49A>G c.807A>G (p.Glu269=) c.315A>G (p.Glu105=) c.720A>G (p.Glu240=) c.453A>G (p.Glu151=) c.450A>G (p.Glu150=) n.1002A>G n.954A>G | dbSNP |
| 9 | g.91220871T>G | CA373835132 | AUH | c.777A>C (p.Glu259Asp) c.690A>C (p.Glu230Asp) n.49A>C c.807A>C (p.Glu269Asp) c.315A>C (p.Glu105Asp) c.720A>C (p.Glu240Asp) c.453A>C (p.Glu151Asp) c.450A>C (p.Glu150Asp) n.1002A>C n.954A>C | |
| 9 | g.91220871T= | CA1863688977 | AUH | c.777A= (p.Glu259=) c.690A= (p.Glu230=) n.49A= c.807A= (p.Glu269=) c.315A= (p.Glu105=) c.720A= (p.Glu240=) c.453A= (p.Glu151=) c.450A= (p.Glu150=) n.1002A= n.954A= | |
| 9 | g.91220872T>A | CA373835133 | AUH | c.776A>T (p.Glu259Val) c.689A>T (p.Glu230Val) n.48A>T c.806A>T (p.Glu269Val) c.314A>T (p.Glu105Val) c.719A>T (p.Glu240Val) c.452A>T (p.Glu151Val) c.449A>T (p.Glu150Val) n.1001A>T n.953A>T | |
| 9 | g.91220872T>C | CA373835134 | AUH | c.776A>G (p.Glu259Gly) c.689A>G (p.Glu230Gly) n.48A>G c.806A>G (p.Glu269Gly) c.314A>G (p.Glu105Gly) c.719A>G (p.Glu240Gly) c.452A>G (p.Glu151Gly) c.449A>G (p.Glu150Gly) n.1001A>G n.953A>G | |
| 9 | g.91220872T>G | CA373835135 | AUH | c.776A>C (p.Glu259Ala) c.689A>C (p.Glu230Ala) n.48A>C c.806A>C (p.Glu269Ala) c.314A>C (p.Glu105Ala) c.719A>C (p.Glu240Ala) c.452A>C (p.Glu151Ala) c.449A>C (p.Glu150Ala) n.1001A>C n.953A>C | |
| 9 | g.91220873C>A | CA373835136 | AUH | c.775G>T (p.Glu259Ter) c.688G>T (p.Glu230Ter) n.47G>T c.805G>T (p.Glu269Ter) c.313G>T (p.Glu105Ter) c.718G>T (p.Glu240Ter) c.451G>T (p.Glu151Ter) c.448G>T (p.Glu150Ter) n.1000G>T n.952G>T | |
| 9 | g.91220873C>G | CA373835137 | AUH | c.775G>C (p.Glu259Gln) c.688G>C (p.Glu230Gln) n.47G>C c.805G>C (p.Glu269Gln) c.313G>C (p.Glu105Gln) c.718G>C (p.Glu240Gln) c.451G>C (p.Glu151Gln) c.448G>C (p.Glu150Gln) n.1000G>C n.952G>C | |
| 9 | g.91220873C>T | CA373835138 | AUH | c.775G>A (p.Glu259Lys) c.688G>A (p.Glu230Lys) n.47G>A c.805G>A (p.Glu269Lys) c.313G>A (p.Glu105Lys) c.718G>A (p.Glu240Lys) c.451G>A (p.Glu151Lys) c.448G>A (p.Glu150Lys) n.1000G>A n.952G>A | gnomAD v4 |
| 9 | g.91220874C>A | CA466225656 | AUH | c.774G>T (p.Leu258=) c.687G>T (p.Leu229=) n.46G>T c.804G>T (p.Leu268=) c.312G>T (p.Leu104=) c.717G>T (p.Leu239=) c.450G>T (p.Leu150=) c.447G>T (p.Leu149=) n.999G>T n.951G>T | |
| 9 | g.91220874C>G | CA466225658 | AUH | c.774G>C (p.Leu258=) c.687G>C (p.Leu229=) n.46G>C c.804G>C (p.Leu268=) c.312G>C (p.Leu104=) c.717G>C (p.Leu239=) c.450G>C (p.Leu150=) c.447G>C (p.Leu149=) n.999G>C n.951G>C | |
| 9 | g.91220874C>T | CA466225659 | AUH | c.774G>A (p.Leu258=) c.687G>A (p.Leu229=) n.46G>A c.804G>A (p.Leu268=) c.312G>A (p.Leu104=) c.717G>A (p.Leu239=) c.450G>A (p.Leu150=) c.447G>A (p.Leu149=) n.999G>A n.951G>A | |
| 9 | g.91220875A>C | CA373835139 | AUH | c.773T>G (p.Leu258Arg) c.686T>G (p.Leu229Arg) n.45T>G c.803T>G (p.Leu268Arg) c.311T>G (p.Leu104Arg) c.716T>G (p.Leu239Arg) c.449T>G (p.Leu150Arg) c.446T>G (p.Leu149Arg) n.998T>G n.950T>G | |
| 9 | g.91220875A>G | CA373835140 | AUH | c.773T>C (p.Leu258Pro) c.686T>C (p.Leu229Pro) n.45T>C c.803T>C (p.Leu268Pro) c.311T>C (p.Leu104Pro) c.716T>C (p.Leu239Pro) c.449T>C (p.Leu150Pro) c.446T>C (p.Leu149Pro) n.998T>C n.950T>C | |
| 9 | g.91220875A>T | CA373835141 | AUH | c.773T>A (p.Leu258Gln) c.686T>A (p.Leu229Gln) n.45T>A c.803T>A (p.Leu268Gln) c.311T>A (p.Leu104Gln) c.716T>A (p.Leu239Gln) c.449T>A (p.Leu150Gln) c.446T>A (p.Leu149Gln) n.998T>A n.950T>A | |
| 9 | g.91220876G>A | CA466225664 | AUH | c.772C>T (p.Leu258=) c.685C>T (p.Leu229=) n.44C>T c.802C>T (p.Leu268=) c.310C>T (p.Leu104=) c.715C>T (p.Leu239=) c.448C>T (p.Leu150=) c.445C>T (p.Leu149=) n.997C>T n.949C>T | |
| 9 | g.91220876G>C | CA373835142 | AUH | c.772C>G (p.Leu258Val) c.685C>G (p.Leu229Val) n.44C>G c.802C>G (p.Leu268Val) c.310C>G (p.Leu104Val) c.715C>G (p.Leu239Val) c.448C>G (p.Leu150Val) c.445C>G (p.Leu149Val) n.997C>G n.949C>G | |
| 9 | g.91220876G>T | CA373835143 | AUH | c.772C>A (p.Leu258Met) c.685C>A (p.Leu229Met) n.44C>A c.802C>A (p.Leu268Met) c.310C>A (p.Leu104Met) c.715C>A (p.Leu239Met) c.448C>A (p.Leu150Met) c.445C>A (p.Leu149Met) n.997C>A n.949C>A | |
| 9 | g.91220877A>C | CA466225667 | AUH | c.771T>G (p.Val257=) c.684T>G (p.Val228=) n.43T>G c.801T>G (p.Val267=) c.309T>G (p.Val103=) c.714T>G (p.Val238=) c.447T>G (p.Val149=) c.444T>G (p.Val148=) n.996T>G n.948T>G | |
| 9 | g.91220877A>G | CA466225668 | AUH | c.771T>C (p.Val257=) c.684T>C (p.Val228=) n.43T>C c.801T>C (p.Val267=) c.309T>C (p.Val103=) c.714T>C (p.Val238=) c.447T>C (p.Val149=) c.444T>C (p.Val148=) n.996T>C n.948T>C | |
| 9 | g.91220877A>T | CA466225670 | AUH | c.771T>A (p.Val257=) c.684T>A (p.Val228=) n.43T>A c.801T>A (p.Val267=) c.309T>A (p.Val103=) c.714T>A (p.Val238=) c.447T>A (p.Val149=) c.444T>A (p.Val148=) n.996T>A n.948T>A | |
| 9 | g.91220878A>C | CA373835144 | AUH | c.770T>G (p.Val257Gly) c.683T>G (p.Val228Gly) n.42T>G c.800T>G (p.Val267Gly) c.308T>G (p.Val103Gly) c.713T>G (p.Val238Gly) c.446T>G (p.Val149Gly) c.443T>G (p.Val148Gly) n.995T>G n.947T>G | |
| 9 | g.91220878A>G | CA373835145 | AUH | c.770T>C (p.Val257Ala) c.683T>C (p.Val228Ala) n.42T>C c.800T>C (p.Val267Ala) c.308T>C (p.Val103Ala) c.713T>C (p.Val238Ala) c.446T>C (p.Val149Ala) c.443T>C (p.Val148Ala) n.995T>C n.947T>C | |
| 9 | g.91220878A>T | CA373835146 | AUH | c.770T>A (p.Val257Asp) c.683T>A (p.Val228Asp) n.42T>A c.800T>A (p.Val267Asp) c.308T>A (p.Val103Asp) c.713T>A (p.Val238Asp) c.446T>A (p.Val149Asp) c.443T>A (p.Val148Asp) n.995T>A n.947T>A | |
| 9 | g.91220879C>A | CA373835147 | AUH | c.769G>T (p.Val257Phe) c.682G>T (p.Val228Phe) n.41G>T c.799G>T (p.Val267Phe) c.307G>T (p.Val103Phe) c.712G>T (p.Val238Phe) c.445G>T (p.Val149Phe) c.442G>T (p.Val148Phe) n.994G>T n.946G>T | dbSNP |
| 9 | g.91220879C= | CA1863688979 | AUH | c.769G= (p.Val257=) c.682G= (p.Val228=) n.41G= c.799G= (p.Val267=) c.307G= (p.Val103=) c.712G= (p.Val238=) c.445G= (p.Val149=) c.442G= (p.Val148=) n.994G= n.946G= | |
| 9 | g.91220879C>G | CA373835148 | AUH | c.769G>C (p.Val257Leu) c.682G>C (p.Val228Leu) n.41G>C c.799G>C (p.Val267Leu) c.307G>C (p.Val103Leu) c.712G>C (p.Val238Leu) c.445G>C (p.Val149Leu) c.442G>C (p.Val148Leu) n.994G>C n.946G>C | |
| 9 | g.91220879C>T | CA5119739 | AUH | c.769G>A (p.Val257Ile) c.682G>A (p.Val228Ile) n.41G>A c.799G>A (p.Val267Ile) c.307G>A (p.Val103Ile) c.712G>A (p.Val238Ile) c.445G>A (p.Val149Ile) c.442G>A (p.Val148Ile) n.994G>A n.946G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220880G>A | CA5119740 | AUH | c.768C>T (p.His256=) c.681C>T (p.His227=) n.40C>T c.798C>T (p.His266=) c.306C>T (p.His102=) c.711C>T (p.His237=) c.444C>T (p.His148=) c.441C>T (p.His147=) n.993C>T n.945C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220880G>C | CA373835149 | AUH | c.768C>G (p.His256Gln) c.681C>G (p.His227Gln) n.40C>G c.798C>G (p.His266Gln) c.306C>G (p.His102Gln) c.711C>G (p.His237Gln) c.444C>G (p.His148Gln) c.441C>G (p.His147Gln) n.993C>G n.945C>G | |
| 9 | g.91220880G= | CA1863688983 | AUH | c.768C= (p.His256=) c.681C= (p.His227=) n.40C= c.798C= (p.His266=) c.306C= (p.His102=) c.711C= (p.His237=) c.444C= (p.His148=) c.441C= (p.His147=) n.993C= n.945C= | |
| 9 | g.91220880G>T | CA373835150 | AUH | c.768C>A (p.His256Gln) c.681C>A (p.His227Gln) n.40C>A c.798C>A (p.His266Gln) c.306C>A (p.His102Gln) c.711C>A (p.His237Gln) c.444C>A (p.His148Gln) c.441C>A (p.His147Gln) n.993C>A n.945C>A | |
| 9 | g.91220881T>A | CA373835151 | AUH | c.767A>T (p.His256Leu) c.680A>T (p.His227Leu) n.39A>T c.797A>T (p.His266Leu) c.305A>T (p.His102Leu) c.710A>T (p.His237Leu) c.443A>T (p.His148Leu) c.440A>T (p.His147Leu) n.992A>T n.944A>T | |
| 9 | g.91220881T>C | CA373835152 | AUH | c.767A>G (p.His256Arg) c.680A>G (p.His227Arg) n.39A>G c.797A>G (p.His266Arg) c.305A>G (p.His102Arg) c.710A>G (p.His237Arg) c.443A>G (p.His148Arg) c.440A>G (p.His147Arg) n.992A>G n.944A>G | |
| 9 | g.91220881T>G | CA373835153 | AUH | c.767A>C (p.His256Pro) c.680A>C (p.His227Pro) n.39A>C c.797A>C (p.His266Pro) c.305A>C (p.His102Pro) c.710A>C (p.His237Pro) c.443A>C (p.His148Pro) c.440A>C (p.His147Pro) n.992A>C n.944A>C | |
| 9 | g.91220882G>A | CA195893138 | AUH | c.766C>T (p.His256Tyr) c.679C>T (p.His227Tyr) n.38C>T c.796C>T (p.His266Tyr) c.304C>T (p.His102Tyr) c.709C>T (p.His237Tyr) c.442C>T (p.His148Tyr) c.439C>T (p.His147Tyr) n.991C>T n.943C>T | ClinVar dbSNP |
| 9 | g.91220882G>C | CA373835155 | AUH | c.766C>G (p.His256Asp) c.679C>G (p.His227Asp) n.38C>G c.796C>G (p.His266Asp) c.304C>G (p.His102Asp) c.709C>G (p.His237Asp) c.442C>G (p.His148Asp) c.439C>G (p.His147Asp) n.991C>G n.943C>G | |
| 9 | g.91220882G= | CA1863688988 | AUH | c.766C= (p.His256=) c.679C= (p.His227=) n.38C= c.796C= (p.His266=) c.304C= (p.His102=) c.709C= (p.His237=) c.442C= (p.His148=) c.439C= (p.His147=) n.991C= n.943C= | |
| 9 | g.91220882G>T | CA373835154 | AUH | c.766C>A (p.His256Asn) c.679C>A (p.His227Asn) n.38C>A c.796C>A (p.His266Asn) c.304C>A (p.His102Asn) c.709C>A (p.His237Asn) c.442C>A (p.His148Asn) c.439C>A (p.His147Asn) n.991C>A n.943C>A | |
| 9 | g.91220883G>A | CA466225684 | AUH | c.765C>T (p.Ser255=) c.678C>T (p.Ser226=) n.37C>T c.795C>T (p.Ser265=) c.303C>T (p.Ser101=) c.708C>T (p.Ser236=) c.441C>T (p.Ser147=) c.438C>T (p.Ser146=) n.990C>T n.942C>T | |
| 9 | g.91220883G>C | CA373835157 | AUH | c.765C>G (p.Ser255Arg) c.678C>G (p.Ser226Arg) n.37C>G c.795C>G (p.Ser265Arg) c.303C>G (p.Ser101Arg) c.708C>G (p.Ser236Arg) c.441C>G (p.Ser147Arg) c.438C>G (p.Ser146Arg) n.990C>G n.942C>G | |
| 9 | g.91220883G>T | CA373835156 | AUH | c.765C>A (p.Ser255Arg) c.678C>A (p.Ser226Arg) n.37C>A c.795C>A (p.Ser265Arg) c.303C>A (p.Ser101Arg) c.708C>A (p.Ser236Arg) c.441C>A (p.Ser147Arg) c.438C>A (p.Ser146Arg) n.990C>A n.942C>A | |
| 9 | g.91220884C>A | CA373835160 | AUH | c.764G>T (p.Ser255Ile) c.677G>T (p.Ser226Ile) n.36G>T c.794G>T (p.Ser265Ile) c.302G>T (p.Ser101Ile) c.707G>T (p.Ser236Ile) c.440G>T (p.Ser147Ile) c.437G>T (p.Ser146Ile) n.989G>T n.941G>T | |
| 9 | g.91220884C>G | CA373835158 | AUH | c.764G>C (p.Ser255Thr) c.677G>C (p.Ser226Thr) n.36G>C c.794G>C (p.Ser265Thr) c.302G>C (p.Ser101Thr) c.707G>C (p.Ser236Thr) c.440G>C (p.Ser147Thr) c.437G>C (p.Ser146Thr) n.989G>C n.941G>C | |
| 9 | g.91220884C>T | CA373835159 | AUH | c.764G>A (p.Ser255Asn) c.677G>A (p.Ser226Asn) n.36G>A c.794G>A (p.Ser265Asn) c.302G>A (p.Ser101Asn) c.707G>A (p.Ser236Asn) c.440G>A (p.Ser147Asn) c.437G>A (p.Ser146Asn) n.989G>A n.941G>A | |
| 9 | g.91220885T>A | CA373835161 | AUH | c.763A>T (p.Ser255Cys) c.676A>T (p.Ser226Cys) n.35A>T c.793A>T (p.Ser265Cys) c.301A>T (p.Ser101Cys) c.706A>T (p.Ser236Cys) c.439A>T (p.Ser147Cys) c.436A>T (p.Ser146Cys) n.988A>T n.940A>T | |
| 9 | g.91220885T>C | CA373835162 | AUH | c.763A>G (p.Ser255Gly) c.676A>G (p.Ser226Gly) n.35A>G c.793A>G (p.Ser265Gly) c.301A>G (p.Ser101Gly) c.706A>G (p.Ser236Gly) c.439A>G (p.Ser147Gly) c.436A>G (p.Ser146Gly) n.988A>G n.940A>G | |
| 9 | g.91220885T>G | CA373835163 | AUH | c.763A>C (p.Ser255Arg) c.676A>C (p.Ser226Arg) n.35A>C c.793A>C (p.Ser265Arg) c.301A>C (p.Ser101Arg) c.706A>C (p.Ser236Arg) c.439A>C (p.Ser147Arg) c.436A>C (p.Ser146Arg) n.988A>C n.940A>C | |
| 9 | g.91220886G>A | CA466225694 | AUH | c.762C>T (p.Ile254=) c.675C>T (p.Ile225=) n.34C>T c.792C>T (p.Ile264=) c.300C>T (p.Ile100=) c.705C>T (p.Ile235=) c.438C>T (p.Ile146=) c.435C>T (p.Ile145=) n.987C>T n.939C>T | gnomAD v4 |
| 9 | g.91220886G>C | CA5119741 | AUH | c.762C>G (p.Ile254Met) c.675C>G (p.Ile225Met) n.34C>G c.792C>G (p.Ile264Met) c.300C>G (p.Ile100Met) c.705C>G (p.Ile235Met) c.438C>G (p.Ile146Met) c.435C>G (p.Ile145Met) n.987C>G n.939C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220886G= | CA1863688993 | AUH | c.762C= (p.Ile254=) c.675C= (p.Ile225=) n.34C= c.792C= (p.Ile264=) c.300C= (p.Ile100=) c.705C= (p.Ile235=) c.438C= (p.Ile146=) c.435C= (p.Ile145=) n.987C= n.939C= | |
| 9 | g.91220886G>T | CA466225692 | AUH | c.762C>A (p.Ile254=) c.675C>A (p.Ile225=) n.34C>A c.792C>A (p.Ile264=) c.300C>A (p.Ile100=) c.705C>A (p.Ile235=) c.438C>A (p.Ile146=) c.435C>A (p.Ile145=) n.987C>A n.939C>A | |
| 9 | g.91220887A>C | CA373835164 | AUH | c.761T>G (p.Ile254Ser) c.674T>G (p.Ile225Ser) n.33T>G c.791T>G (p.Ile264Ser) c.299T>G (p.Ile100Ser) c.704T>G (p.Ile235Ser) c.437T>G (p.Ile146Ser) c.434T>G (p.Ile145Ser) n.986T>G n.938T>G | |
| 9 | g.91220887A>G | CA373835165 | AUH | c.761T>C (p.Ile254Thr) c.674T>C (p.Ile225Thr) n.33T>C c.791T>C (p.Ile264Thr) c.299T>C (p.Ile100Thr) c.704T>C (p.Ile235Thr) c.437T>C (p.Ile146Thr) c.434T>C (p.Ile145Thr) n.986T>C n.938T>C | |
| 9 | g.91220887A>T | CA373835166 | AUH | c.761T>A (p.Ile254Asn) c.674T>A (p.Ile225Asn) n.33T>A c.791T>A (p.Ile264Asn) c.299T>A (p.Ile100Asn) c.704T>A (p.Ile235Asn) c.437T>A (p.Ile146Asn) c.434T>A (p.Ile145Asn) n.986T>A n.938T>A | |
| 9 | g.91220888T>A | CA373835167 | AUH | c.760A>T (p.Ile254Phe) c.673A>T (p.Ile225Phe) n.32A>T c.790A>T (p.Ile264Phe) c.298A>T (p.Ile100Phe) c.703A>T (p.Ile235Phe) c.436A>T (p.Ile146Phe) c.433A>T (p.Ile145Phe) n.985A>T n.937A>T | |
| 9 | g.91220888T>C | CA373835168 | AUH | c.760A>G (p.Ile254Val) c.673A>G (p.Ile225Val) n.32A>G c.790A>G (p.Ile264Val) c.298A>G (p.Ile100Val) c.703A>G (p.Ile235Val) c.436A>G (p.Ile146Val) c.433A>G (p.Ile145Val) n.985A>G n.937A>G | |
| 9 | g.91220888T>G | CA373835169 | AUH | c.760A>C (p.Ile254Leu) c.673A>C (p.Ile225Leu) n.32A>C c.790A>C (p.Ile264Leu) c.298A>C (p.Ile100Leu) c.703A>C (p.Ile235Leu) c.436A>C (p.Ile146Leu) c.433A>C (p.Ile145Leu) n.985A>C n.937A>C | |
| 9 | g.91220889T>A | CA373835171 | AUH | c.759A>T (p.Leu253Phe) c.672A>T (p.Leu224Phe) n.31A>T c.789A>T (p.Leu263Phe) c.297A>T (p.Leu99Phe) c.702A>T (p.Leu234Phe) c.435A>T (p.Leu145Phe) c.432A>T (p.Leu144Phe) n.984A>T n.936A>T | |
| 9 | g.91220889T>C | CA466225700 | AUH | c.759A>G (p.Leu253=) c.672A>G (p.Leu224=) n.31A>G c.789A>G (p.Leu263=) c.297A>G (p.Leu99=) c.702A>G (p.Leu234=) c.435A>G (p.Leu145=) c.432A>G (p.Leu144=) n.984A>G n.936A>G | |
| 9 | g.91220889T>G | CA373835170 | AUH | c.759A>C (p.Leu253Phe) c.672A>C (p.Leu224Phe) n.31A>C c.789A>C (p.Leu263Phe) c.297A>C (p.Leu99Phe) c.702A>C (p.Leu234Phe) c.435A>C (p.Leu145Phe) c.432A>C (p.Leu144Phe) n.984A>C n.936A>C | gnomAD v4 |
| 9 | g.91220890A>C | CA373835172 | AUH | c.758T>G (p.Leu253Ter) c.671T>G (p.Leu224Ter) n.30T>G c.788T>G (p.Leu263Ter) c.296T>G (p.Leu99Ter) c.701T>G (p.Leu234Ter) c.434T>G (p.Leu145Ter) c.431T>G (p.Leu144Ter) n.983T>G n.935T>G | |
| 9 | g.91220890A>G | CA373835173 | AUH | c.758T>C (p.Leu253Ser) c.671T>C (p.Leu224Ser) n.30T>C c.788T>C (p.Leu263Ser) c.296T>C (p.Leu99Ser) c.701T>C (p.Leu234Ser) c.434T>C (p.Leu145Ser) c.431T>C (p.Leu144Ser) n.983T>C n.935T>C | gnomAD v4 |
| 9 | g.91220890A>T | CA373835174 | AUH | c.758T>A (p.Leu253Ter) c.671T>A (p.Leu224Ter) n.30T>A c.788T>A (p.Leu263Ter) c.296T>A (p.Leu99Ter) c.701T>A (p.Leu234Ter) c.434T>A (p.Leu145Ter) c.431T>A (p.Leu144Ter) n.983T>A n.935T>A | |
| 9 | g.91220891A>C | CA373835175 | AUH | c.757T>G (p.Leu253Val) c.670T>G (p.Leu224Val) n.29T>G c.787T>G (p.Leu263Val) c.295T>G (p.Leu99Val) c.700T>G (p.Leu234Val) c.433T>G (p.Leu145Val) c.430T>G (p.Leu144Val) n.982T>G n.934T>G | |
| 9 | g.91220891A>G | CA466225706 | AUH | c.757T>C (p.Leu253=) c.670T>C (p.Leu224=) n.29T>C c.787T>C (p.Leu263=) c.295T>C (p.Leu99=) c.700T>C (p.Leu234=) c.433T>C (p.Leu145=) c.430T>C (p.Leu144=) n.982T>C n.934T>C | gnomAD v4 |
| 9 | g.91220891A>T | CA373835176 | AUH | c.757T>A (p.Leu253Ile) c.670T>A (p.Leu224Ile) n.29T>A c.787T>A (p.Leu263Ile) c.295T>A (p.Leu99Ile) c.700T>A (p.Leu234Ile) c.433T>A (p.Leu145Ile) c.430T>A (p.Leu144Ile) n.982T>A n.934T>A | |
| 9 | g.91220892G>A | CA466225712 | AUH | c.756C>T (p.Gly252=) c.669C>T (p.Gly223=) n.28C>T c.786C>T (p.Gly262=) c.294C>T (p.Gly98=) c.699C>T (p.Gly233=) c.432C>T (p.Gly144=) c.429C>T (p.Gly143=) n.981C>T n.933C>T | |
| 9 | g.91220892G>C | CA466225709 | AUH | c.756C>G (p.Gly252=) c.669C>G (p.Gly223=) n.28C>G c.786C>G (p.Gly262=) c.294C>G (p.Gly98=) c.699C>G (p.Gly233=) c.432C>G (p.Gly144=) c.429C>G (p.Gly143=) n.981C>G n.933C>G | |
| 9 | g.91220892G>T | CA466225711 | AUH | c.756C>A (p.Gly252=) c.669C>A (p.Gly223=) n.28C>A c.786C>A (p.Gly262=) c.294C>A (p.Gly98=) c.699C>A (p.Gly233=) c.432C>A (p.Gly144=) c.429C>A (p.Gly143=) n.981C>A n.933C>A | |
| 9 | g.91220893C>A | CA373835177 | AUH | c.755G>T (p.Gly252Val) c.668G>T (p.Gly223Val) n.27G>T c.785G>T (p.Gly262Val) c.293G>T (p.Gly98Val) c.698G>T (p.Gly233Val) c.431G>T (p.Gly144Val) c.428G>T (p.Gly143Val) n.980G>T n.932G>T | gnomAD v4 |
| 9 | g.91220893C>G | CA373835178 | AUH | c.755G>C (p.Gly252Ala) c.668G>C (p.Gly223Ala) n.27G>C c.785G>C (p.Gly262Ala) c.293G>C (p.Gly98Ala) c.698G>C (p.Gly233Ala) c.431G>C (p.Gly144Ala) c.428G>C (p.Gly143Ala) n.980G>C n.932G>C | |
| 9 | g.91220893C>T | CA373835179 | AUH | c.755G>A (p.Gly252Asp) c.668G>A (p.Gly223Asp) n.27G>A c.785G>A (p.Gly262Asp) c.293G>A (p.Gly98Asp) c.698G>A (p.Gly233Asp) c.431G>A (p.Gly144Asp) c.428G>A (p.Gly143Asp) n.980G>A n.932G>A | |
| 9 | g.91220894C>A | CA373835180 | AUH | c.754G>T (p.Gly252Cys) c.667G>T (p.Gly223Cys) n.26G>T c.784G>T (p.Gly262Cys) c.292G>T (p.Gly98Cys) c.697G>T (p.Gly233Cys) c.430G>T (p.Gly144Cys) c.427G>T (p.Gly143Cys) n.979G>T n.931G>T | |
| 9 | g.91220894C= | CA1863688995 | AUH | c.754G= (p.Gly252=) c.667G= (p.Gly223=) n.26G= c.784G= (p.Gly262=) c.292G= (p.Gly98=) c.697G= (p.Gly233=) c.430G= (p.Gly144=) c.427G= (p.Gly143=) n.979G= n.931G= | |
| 9 | g.91220894C>G | CA373835181 | AUH | c.754G>C (p.Gly252Arg) c.667G>C (p.Gly223Arg) n.26G>C c.784G>C (p.Gly262Arg) c.292G>C (p.Gly98Arg) c.697G>C (p.Gly233Arg) c.430G>C (p.Gly144Arg) c.427G>C (p.Gly143Arg) n.979G>C n.931G>C | |
| 9 | g.91220894C>T | CA373835182 | AUH | c.754G>A (p.Gly252Ser) c.667G>A (p.Gly223Ser) n.26G>A c.784G>A (p.Gly262Ser) c.292G>A (p.Gly98Ser) c.697G>A (p.Gly233Ser) c.430G>A (p.Gly144Ser) c.427G>A (p.Gly143Ser) n.979G>A n.931G>A | gnomAD v4 |
| 9 | g.91220895C>A | CA466225721 | AUH | c.753G>T (p.Val251=) c.666G>T (p.Val222=) n.25G>T c.783G>T (p.Val261=) c.291G>T (p.Val97=) c.696G>T (p.Val232=) c.429G>T (p.Val143=) c.426G>T (p.Val142=) n.978G>T n.930G>T | |
| 9 | g.91220895C>G | CA466225723 | AUH | c.753G>C (p.Val251=) c.666G>C (p.Val222=) n.25G>C c.783G>C (p.Val261=) c.291G>C (p.Val97=) c.696G>C (p.Val232=) c.429G>C (p.Val143=) c.426G>C (p.Val142=) n.978G>C n.930G>C | |
| 9 | g.91220895C>T | CA466225724 | AUH | c.753G>A (p.Val251=) c.666G>A (p.Val222=) n.25G>A c.783G>A (p.Val261=) c.291G>A (p.Val97=) c.696G>A (p.Val232=) c.429G>A (p.Val143=) c.426G>A (p.Val142=) n.978G>A n.930G>A | |
| 9 | g.91220896_91220900dup | CA5119742 | AUH | c.749_753dup (p.Gly252GlnfsTer4) c.662_666dup (p.Gly223GlnfsTer4) n.21_25dup c.779_783dup (p.Gly262GlnfsTer4) c.287_291dup (p.Gly98GlnfsTer4) c.692_696dup (p.Gly233GlnfsTer4) c.425_429dup (p.Gly144GlnfsTer4) c.422_426dup (p.Gly143GlnfsTer4) n.974_978dup n.926_930dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220896A>C | CA373835184 | AUH | c.752T>G (p.Val251Gly) c.665T>G (p.Val222Gly) n.24T>G c.782T>G (p.Val261Gly) c.290T>G (p.Val97Gly) c.695T>G (p.Val232Gly) c.428T>G (p.Val143Gly) c.425T>G (p.Val142Gly) n.977T>G n.929T>G | |
| 9 | g.91220896A>G | CA373835185 | AUH | c.752T>C (p.Val251Ala) c.665T>C (p.Val222Ala) n.24T>C c.782T>C (p.Val261Ala) c.290T>C (p.Val97Ala) c.695T>C (p.Val232Ala) c.428T>C (p.Val143Ala) c.425T>C (p.Val142Ala) n.977T>C n.929T>C | |
| 9 | g.91220896A>T | CA373835183 | AUH | c.752T>A (p.Val251Glu) c.665T>A (p.Val222Glu) n.24T>A c.782T>A (p.Val261Glu) c.290T>A (p.Val97Glu) c.695T>A (p.Val232Glu) c.428T>A (p.Val143Glu) c.425T>A (p.Val142Glu) n.977T>A n.929T>A | |
| 9 | g.91220897del | CA2690635627 | AUH | c.751del (p.Val251TrpfsTer3) c.664del (p.Val222TrpfsTer3) n.23del c.781del (p.Val261TrpfsTer3) c.289del (p.Val97TrpfsTer3) c.694del (p.Val232TrpfsTer3) c.427del (p.Val143TrpfsTer3) c.424del (p.Val142TrpfsTer3) n.976del n.928del | gnomAD v4 |
| 9 | g.91220897C>A | CA373835186 | AUH | c.751G>T (p.Val251Leu) c.664G>T (p.Val222Leu) n.23G>T c.781G>T (p.Val261Leu) c.289G>T (p.Val97Leu) c.694G>T (p.Val232Leu) c.427G>T (p.Val143Leu) c.424G>T (p.Val142Leu) n.976G>T n.928G>T | |
| 9 | g.91220897C>G | CA373835187 | AUH | c.751G>C (p.Val251Leu) c.664G>C (p.Val222Leu) n.23G>C c.781G>C (p.Val261Leu) c.289G>C (p.Val97Leu) c.694G>C (p.Val232Leu) c.427G>C (p.Val143Leu) c.424G>C (p.Val142Leu) n.976G>C n.928G>C | |
| 9 | g.91220897C>T | CA373835188 | AUH | c.751G>A (p.Val251Met) c.664G>A (p.Val222Met) n.23G>A c.781G>A (p.Val261Met) c.289G>A (p.Val97Met) c.694G>A (p.Val232Met) c.427G>A (p.Val143Met) c.424G>A (p.Val142Met) n.976G>A n.928G>A | |
| 9 | g.91220898T>A | CA466225731 | AUH | c.750A>T (p.Ala250=) c.663A>T (p.Ala221=) n.22A>T c.780A>T (p.Ala260=) c.288A>T (p.Ala96=) c.693A>T (p.Ala231=) c.426A>T (p.Ala142=) c.423A>T (p.Ala141=) n.975A>T n.927A>T | |
| 9 | g.91220898T>C | CA466225732 | AUH | c.750A>G (p.Ala250=) c.663A>G (p.Ala221=) n.22A>G c.780A>G (p.Ala260=) c.288A>G (p.Ala96=) c.693A>G (p.Ala231=) c.426A>G (p.Ala142=) c.423A>G (p.Ala141=) n.975A>G n.927A>G | |
| 9 | g.91220898T>G | CA466225734 | AUH | c.750A>C (p.Ala250=) c.663A>C (p.Ala221=) n.22A>C c.780A>C (p.Ala260=) c.288A>C (p.Ala96=) c.693A>C (p.Ala231=) c.426A>C (p.Ala142=) c.423A>C (p.Ala141=) n.975A>C n.927A>C | |
| 9 | g.91220899G>A | CA373835189 | AUH | c.749C>T (p.Ala250Val) c.662C>T (p.Ala221Val) n.21C>T c.779C>T (p.Ala260Val) c.287C>T (p.Ala96Val) c.692C>T (p.Ala231Val) c.425C>T (p.Ala142Val) c.422C>T (p.Ala141Val) n.974C>T n.926C>T | |
| 9 | g.91220899G>C | CA373835190 | AUH | c.749C>G (p.Ala250Gly) c.662C>G (p.Ala221Gly) n.21C>G c.779C>G (p.Ala260Gly) c.287C>G (p.Ala96Gly) c.692C>G (p.Ala231Gly) c.425C>G (p.Ala142Gly) c.422C>G (p.Ala141Gly) n.974C>G n.926C>G | |
| 9 | g.91220899G>T | CA373835191 | AUH | c.749C>A (p.Ala250Glu) c.662C>A (p.Ala221Glu) n.21C>A c.779C>A (p.Ala260Glu) c.287C>A (p.Ala96Glu) c.692C>A (p.Ala231Glu) c.425C>A (p.Ala142Glu) c.422C>A (p.Ala141Glu) n.974C>A n.926C>A | |
| 9 | g.91220900C>A | CA373835194 | AUH | c.748G>T (p.Ala250Ser) c.661G>T (p.Ala221Ser) n.20G>T c.778G>T (p.Ala260Ser) c.286G>T (p.Ala96Ser) c.691G>T (p.Ala231Ser) c.424G>T (p.Ala142Ser) c.421G>T (p.Ala141Ser) n.973G>T n.925G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220900C= | CA1863688999 | AUH | c.748G= (p.Ala250=) c.661G= (p.Ala221=) n.20G= c.778G= (p.Ala260=) c.286G= (p.Ala96=) c.691G= (p.Ala231=) c.424G= (p.Ala142=) c.421G= (p.Ala141=) n.973G= n.925G= | |
| 9 | g.91220900C>G | CA373835192 | AUH | c.748G>C (p.Ala250Pro) c.661G>C (p.Ala221Pro) n.20G>C c.778G>C (p.Ala260Pro) c.286G>C (p.Ala96Pro) c.691G>C (p.Ala231Pro) c.424G>C (p.Ala142Pro) c.421G>C (p.Ala141Pro) n.973G>C n.925G>C | |
| 9 | g.91220900C>T | CA373835193 | AUH | c.748G>A (p.Ala250Thr) c.661G>A (p.Ala221Thr) n.20G>A c.778G>A (p.Ala260Thr) c.286G>A (p.Ala96Thr) c.691G>A (p.Ala231Thr) c.424G>A (p.Ala142Thr) c.421G>A (p.Ala141Thr) n.973G>A n.925G>A | gnomAD v4 |
| 9 | g.91220901T>A | CA373835195 | AUH | c.747A>T (p.Lys249Asn) c.660A>T (p.Lys220Asn) n.19A>T c.777A>T (p.Lys259Asn) c.285A>T (p.Lys95Asn) c.690A>T (p.Lys230Asn) c.423A>T (p.Lys141Asn) c.420A>T (p.Lys140Asn) n.972A>T n.924A>T | |
| 9 | g.91220901T>C | CA466225740 | AUH | c.747A>G (p.Lys249=) c.660A>G (p.Lys220=) n.19A>G c.777A>G (p.Lys259=) c.285A>G (p.Lys95=) c.690A>G (p.Lys230=) c.423A>G (p.Lys141=) c.420A>G (p.Lys140=) n.972A>G n.924A>G | |
| 9 | g.91220901T>G | CA373835196 | AUH | c.747A>C (p.Lys249Asn) c.660A>C (p.Lys220Asn) n.19A>C c.777A>C (p.Lys259Asn) c.285A>C (p.Lys95Asn) c.690A>C (p.Lys230Asn) c.423A>C (p.Lys141Asn) c.420A>C (p.Lys140Asn) n.972A>C n.924A>C | |
| 9 | g.91220902T>A | CA373835197 | AUH | c.746A>T (p.Lys249Ile) c.659A>T (p.Lys220Ile) n.18A>T c.776A>T (p.Lys259Ile) c.284A>T (p.Lys95Ile) c.689A>T (p.Lys230Ile) c.422A>T (p.Lys141Ile) c.419A>T (p.Lys140Ile) n.971A>T n.923A>T | |
| 9 | g.91220902T>C | CA5119743 | AUH | c.746A>G (p.Lys249Arg) c.659A>G (p.Lys220Arg) n.18A>G c.776A>G (p.Lys259Arg) c.284A>G (p.Lys95Arg) c.689A>G (p.Lys230Arg) c.422A>G (p.Lys141Arg) c.419A>G (p.Lys140Arg) n.971A>G n.923A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220902T>G | CA373835198 | AUH | c.746A>C (p.Lys249Thr) c.659A>C (p.Lys220Thr) n.18A>C c.776A>C (p.Lys259Thr) c.284A>C (p.Lys95Thr) c.689A>C (p.Lys230Thr) c.422A>C (p.Lys141Thr) c.419A>C (p.Lys140Thr) n.971A>C n.923A>C | |
| 9 | g.91220902T= | CA1863689002 | AUH | c.746A= (p.Lys249=) c.659A= (p.Lys220=) n.18A= c.776A= (p.Lys259=) c.284A= (p.Lys95=) c.689A= (p.Lys230=) c.422A= (p.Lys141=) c.419A= (p.Lys140=) n.971A= n.923A= | |
| 9 | g.91220903T>A | CA373835199 | AUH | c.745A>T (p.Lys249Ter) c.658A>T (p.Lys220Ter) n.17A>T c.775A>T (p.Lys259Ter) c.283A>T (p.Lys95Ter) c.688A>T (p.Lys230Ter) c.421A>T (p.Lys141Ter) c.418A>T (p.Lys140Ter) n.970A>T n.922A>T | |
| 9 | g.91220903T>C | CA373835200 | AUH | c.745A>G (p.Lys249Glu) c.658A>G (p.Lys220Glu) n.17A>G c.775A>G (p.Lys259Glu) c.283A>G (p.Lys95Glu) c.688A>G (p.Lys230Glu) c.421A>G (p.Lys141Glu) c.418A>G (p.Lys140Glu) n.970A>G n.922A>G | |
| 9 | g.91220903T>G | CA195893142 | AUH | c.745A>C (p.Lys249Gln) c.658A>C (p.Lys220Gln) n.17A>C c.775A>C (p.Lys259Gln) c.283A>C (p.Lys95Gln) c.688A>C (p.Lys230Gln) c.421A>C (p.Lys141Gln) c.418A>C (p.Lys140Gln) n.970A>C n.922A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220903T= | CA1863689003 | AUH | c.745A= (p.Lys249=) c.658A= (p.Lys220=) n.17A= c.775A= (p.Lys259=) c.283A= (p.Lys95=) c.688A= (p.Lys230=) c.421A= (p.Lys141=) c.418A= (p.Lys140=) n.970A= n.922A= | |
| 9 | g.91220904G>A | CA466225752 | AUH | c.744C>T (p.Ala248=) c.657C>T (p.Ala219=) n.16C>T c.774C>T (p.Ala258=) c.282C>T (p.Ala94=) c.687C>T (p.Ala229=) c.420C>T (p.Ala140=) c.417C>T (p.Ala139=) n.969C>T n.921C>T | COSMIC |
| 9 | g.91220904G>C | CA466225753 | AUH | c.744C>G (p.Ala248=) c.657C>G (p.Ala219=) n.16C>G c.774C>G (p.Ala258=) c.282C>G (p.Ala94=) c.687C>G (p.Ala229=) c.420C>G (p.Ala140=) c.417C>G (p.Ala139=) n.969C>G n.921C>G | |
| 9 | g.91220904G>T | CA466225755 | AUH | c.744C>A (p.Ala248=) c.657C>A (p.Ala219=) n.16C>A c.774C>A (p.Ala258=) c.282C>A (p.Ala94=) c.687C>A (p.Ala229=) c.420C>A (p.Ala140=) c.417C>A (p.Ala139=) n.969C>A n.921C>A | |
| 9 | g.91220905G>A | CA373835201 | AUH | c.743C>T (p.Ala248Val) c.656C>T (p.Ala219Val) n.15C>T c.773C>T (p.Ala258Val) c.281C>T (p.Ala94Val) c.686C>T (p.Ala229Val) c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) n.968C>T n.920C>T | |
| 9 | g.91220905G>C | CA373835202 | AUH | c.743C>G (p.Ala248Gly) c.656C>G (p.Ala219Gly) n.15C>G c.773C>G (p.Ala258Gly) c.281C>G (p.Ala94Gly) c.686C>G (p.Ala229Gly) c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) n.968C>G n.920C>G | |
| 9 | g.91220905G>T | CA373835203 | AUH | c.743C>A (p.Ala248Asp) c.656C>A (p.Ala219Asp) n.15C>A c.773C>A (p.Ala258Asp) c.281C>A (p.Ala94Asp) c.686C>A (p.Ala229Asp) c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) n.968C>A n.920C>A | |
| 9 | g.91220906C>A | CA373835204 | AUH | c.742G>T (p.Ala248Ser) c.655G>T (p.Ala219Ser) n.14G>T c.772G>T (p.Ala258Ser) c.280G>T (p.Ala94Ser) c.685G>T (p.Ala229Ser) c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) n.967G>T n.919G>T | |
| 9 | g.91220906C= | CA1863689007 | AUH | c.742G= (p.Ala248=) c.655G= (p.Ala219=) n.14G= c.772G= (p.Ala258=) c.280G= (p.Ala94=) c.685G= (p.Ala229=) c.418G= (p.Ala140=) c.415G= (p.Ala139=) n.967G= n.919G= | |
| 9 | g.91220906C>G | CA373835205 | AUH | c.742G>C (p.Ala248Pro) c.655G>C (p.Ala219Pro) n.14G>C c.772G>C (p.Ala258Pro) c.280G>C (p.Ala94Pro) c.685G>C (p.Ala229Pro) c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) n.967G>C n.919G>C | |
| 9 | g.91220906C>T | CA322021 | AUH | c.742G>A (p.Ala248Thr) c.655G>A (p.Ala219Thr) n.14G>A c.772G>A (p.Ala258Thr) c.280G>A (p.Ala94Thr) c.685G>A (p.Ala229Thr) c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) n.967G>A n.919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220909_91220911del | CA2690635628 | AUH | c.740_742del (p.Glu247del) c.653_655del (p.Glu218del) n.12_14del c.770_772del (p.Glu257del) c.278_280del (p.Glu93del) c.683_685del (p.Glu228del) c.416_418del (p.Glu139del) c.413_415del (p.Glu138del) n.965_967del n.917_919del | gnomAD v4 |
| 9 | g.91220907T>A | CA373835206 | AUH | c.741A>T (p.Glu247Asp) c.654A>T (p.Glu218Asp) n.13A>T c.771A>T (p.Glu257Asp) c.279A>T (p.Glu93Asp) c.684A>T (p.Glu228Asp) c.417A>T (p.Glu139Asp) c.414A>T (p.Glu138Asp) n.966A>T n.918A>T | gnomAD v4 |
| 9 | g.91220907T>C | CA466225763 | AUH | c.741A>G (p.Glu247=) c.654A>G (p.Glu218=) n.13A>G c.771A>G (p.Glu257=) c.279A>G (p.Glu93=) c.684A>G (p.Glu228=) c.417A>G (p.Glu139=) c.414A>G (p.Glu138=) n.966A>G n.918A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220907T>G | CA373835207 | AUH | c.741A>C (p.Glu247Asp) c.654A>C (p.Glu218Asp) n.13A>C c.771A>C (p.Glu257Asp) c.279A>C (p.Glu93Asp) c.684A>C (p.Glu228Asp) c.417A>C (p.Glu139Asp) c.414A>C (p.Glu138Asp) n.966A>C n.918A>C | |
| 9 | g.91220907T= | CA1863689012 | AUH | c.741A= (p.Glu247=) c.654A= (p.Glu218=) n.13A= c.771A= (p.Glu257=) c.279A= (p.Glu93=) c.684A= (p.Glu228=) c.417A= (p.Glu139=) c.414A= (p.Glu138=) n.966A= n.918A= | |
| 9 | g.91220908T>A | CA373835208 | AUH | c.740A>T (p.Glu247Val) c.653A>T (p.Glu218Val) n.12A>T c.770A>T (p.Glu257Val) c.278A>T (p.Glu93Val) c.683A>T (p.Glu228Val) c.416A>T (p.Glu139Val) c.413A>T (p.Glu138Val) n.965A>T n.917A>T | |
| 9 | g.91220908T>C | CA373835209 | AUH | c.740A>G (p.Glu247Gly) c.653A>G (p.Glu218Gly) n.12A>G c.770A>G (p.Glu257Gly) c.278A>G (p.Glu93Gly) c.683A>G (p.Glu228Gly) c.416A>G (p.Glu139Gly) c.413A>G (p.Glu138Gly) n.965A>G n.917A>G | gnomAD v4 |
| 9 | g.91220908T>G | CA373835210 | AUH | c.740A>C (p.Glu247Ala) c.653A>C (p.Glu218Ala) n.12A>C c.770A>C (p.Glu257Ala) c.278A>C (p.Glu93Ala) c.683A>C (p.Glu228Ala) c.416A>C (p.Glu139Ala) c.413A>C (p.Glu138Ala) n.965A>C n.917A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.91220908T= | CA1863689015 | AUH | c.740A= (p.Glu247=) c.653A= (p.Glu218=) n.12A= c.770A= (p.Glu257=) c.278A= (p.Glu93=) c.683A= (p.Glu228=) c.416A= (p.Glu139=) c.413A= (p.Glu138=) n.965A= n.917A= | |
| 9 | g.91220909C>A | CA373835213 | AUH | c.739G>T (p.Glu247Ter) c.652G>T (p.Glu218Ter) n.11G>T c.769G>T (p.Glu257Ter) c.277G>T (p.Glu93Ter) c.682G>T (p.Glu228Ter) c.415G>T (p.Glu139Ter) c.412G>T (p.Glu138Ter) n.964G>T n.916G>T | |
| 9 | g.91220909C>G | CA373835212 | AUH | c.739G>C (p.Glu247Gln) c.652G>C (p.Glu218Gln) n.11G>C c.769G>C (p.Glu257Gln) c.277G>C (p.Glu93Gln) c.682G>C (p.Glu228Gln) c.415G>C (p.Glu139Gln) c.412G>C (p.Glu138Gln) n.964G>C n.916G>C | |
| 9 | g.91220909C>T | CA373835211 | AUH | c.739G>A (p.Glu247Lys) c.652G>A (p.Glu218Lys) n.11G>A c.769G>A (p.Glu257Lys) c.277G>A (p.Glu93Lys) c.682G>A (p.Glu228Lys) c.415G>A (p.Glu139Lys) c.412G>A (p.Glu138Lys) n.964G>A n.916G>A | |
| 9 | g.91220910T>A | CA373835214 | AUH | c.738A>T (p.Lys246Asn) c.651A>T (p.Lys217Asn) n.10A>T c.768A>T (p.Lys256Asn) c.276A>T (p.Lys92Asn) c.681A>T (p.Lys227Asn) c.414A>T (p.Lys138Asn) c.411A>T (p.Lys137Asn) n.963A>T n.915A>T | |
| 9 | g.91220910T>C | CA5119744 | AUH | c.738A>G (p.Lys246=) c.651A>G (p.Lys217=) n.10A>G c.768A>G (p.Lys256=) c.276A>G (p.Lys92=) c.681A>G (p.Lys227=) c.414A>G (p.Lys138=) c.411A>G (p.Lys137=) n.963A>G n.915A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220910T>G | CA373835215 | AUH | c.738A>C (p.Lys246Asn) c.651A>C (p.Lys217Asn) n.10A>C c.768A>C (p.Lys256Asn) c.276A>C (p.Lys92Asn) c.681A>C (p.Lys227Asn) c.414A>C (p.Lys138Asn) c.411A>C (p.Lys137Asn) n.963A>C n.915A>C | |
| 9 | g.91220910T= | CA1863689017 | AUH | c.738A= (p.Lys246=) c.651A= (p.Lys217=) n.10A= c.768A= (p.Lys256=) c.276A= (p.Lys92=) c.681A= (p.Lys227=) c.414A= (p.Lys138=) c.411A= (p.Lys137=) n.963A= n.915A= | |
| 9 | g.91220911T>A | CA373835216 | AUH | c.737A>T (p.Lys246Ile) c.650A>T (p.Lys217Ile) n.9A>T c.767A>T (p.Lys256Ile) c.275A>T (p.Lys92Ile) c.680A>T (p.Lys227Ile) c.413A>T (p.Lys138Ile) c.410A>T (p.Lys137Ile) n.962A>T n.914A>T | |
| 9 | g.91220911T>C | CA373835217 | AUH | c.737A>G (p.Lys246Arg) c.650A>G (p.Lys217Arg) n.9A>G c.767A>G (p.Lys256Arg) c.275A>G (p.Lys92Arg) c.680A>G (p.Lys227Arg) c.413A>G (p.Lys138Arg) c.410A>G (p.Lys137Arg) n.962A>G n.914A>G | dbSNP gnomAD v4 |
| 9 | g.91220911T>G | CA373835218 | AUH | c.737A>C (p.Lys246Thr) c.650A>C (p.Lys217Thr) n.9A>C c.767A>C (p.Lys256Thr) c.275A>C (p.Lys92Thr) c.680A>C (p.Lys227Thr) c.413A>C (p.Lys138Thr) c.410A>C (p.Lys137Thr) n.962A>C n.914A>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220911T= | CA1863689020 | AUH | c.737A= (p.Lys246=) c.650A= (p.Lys217=) n.9A= c.767A= (p.Lys256=) c.275A= (p.Lys92=) c.680A= (p.Lys227=) c.413A= (p.Lys138=) c.410A= (p.Lys137=) n.962A= n.914A= | |
| 9 | g.91220912T>A | CA373835219 | AUH | c.736A>T (p.Lys246Ter) c.649A>T (p.Lys217Ter) n.8A>T c.766A>T (p.Lys256Ter) c.274A>T (p.Lys92Ter) c.679A>T (p.Lys227Ter) c.412A>T (p.Lys138Ter) c.409A>T (p.Lys137Ter) n.961A>T n.913A>T | |
| 9 | g.91220912T>C | CA373835220 | AUH | c.736A>G (p.Lys246Glu) c.649A>G (p.Lys217Glu) n.8A>G c.766A>G (p.Lys256Glu) c.274A>G (p.Lys92Glu) c.679A>G (p.Lys227Glu) c.412A>G (p.Lys138Glu) c.409A>G (p.Lys137Glu) n.961A>G n.913A>G | ClinVar dbSNP |
| 9 | g.91220912T>G | CA373835221 | AUH | c.736A>C (p.Lys246Gln) c.649A>C (p.Lys217Gln) n.8A>C c.766A>C (p.Lys256Gln) c.274A>C (p.Lys92Gln) c.679A>C (p.Lys227Gln) c.412A>C (p.Lys138Gln) c.409A>C (p.Lys137Gln) n.961A>C n.913A>C | dbSNP |
| 9 | g.91220913G>A | CA466225777 | AUH | c.735C>T (p.Gly245=) c.648C>T (p.Gly216=) n.7C>T c.765C>T (p.Gly255=) c.273C>T (p.Gly91=) c.678C>T (p.Gly226=) c.411C>T (p.Gly137=) c.408C>T (p.Gly136=) n.960C>T n.912C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.91220913G>C | CA466225780 | AUH | c.735C>G (p.Gly245=) c.648C>G (p.Gly216=) n.7C>G c.765C>G (p.Gly255=) c.273C>G (p.Gly91=) c.678C>G (p.Gly226=) c.411C>G (p.Gly137=) c.408C>G (p.Gly136=) n.960C>G n.912C>G | |
| 9 | g.91220913G= | CA1863689024 | AUH | c.735C= (p.Gly245=) c.648C= (p.Gly216=) n.7C= c.765C= (p.Gly255=) c.273C= (p.Gly91=) c.678C= (p.Gly226=) c.411C= (p.Gly137=) c.408C= (p.Gly136=) n.960C= n.912C= | |
| 9 | g.91220913G>T | CA466225778 | AUH | c.735C>A (p.Gly245=) c.648C>A (p.Gly216=) n.7C>A c.765C>A (p.Gly255=) c.273C>A (p.Gly91=) c.678C>A (p.Gly226=) c.411C>A (p.Gly137=) c.408C>A (p.Gly136=) n.960C>A n.912C>A | |
| 9 | g.91220914C>A | CA373835222 | AUH | c.734G>T (p.Gly245Val) c.647G>T (p.Gly216Val) n.6G>T c.764G>T (p.Gly255Val) c.272G>T (p.Gly91Val) c.677G>T (p.Gly226Val) c.410G>T (p.Gly137Val) c.407G>T (p.Gly136Val) n.959G>T n.911G>T | |
| 9 | g.91220914C>G | CA373835223 | AUH | c.734G>C (p.Gly245Ala) c.647G>C (p.Gly216Ala) n.6G>C c.764G>C (p.Gly255Ala) c.272G>C (p.Gly91Ala) c.677G>C (p.Gly226Ala) c.410G>C (p.Gly137Ala) c.407G>C (p.Gly136Ala) n.959G>C n.911G>C | |
| 9 | g.91220914C>T | CA373835224 | AUH | c.734G>A (p.Gly245Asp) c.647G>A (p.Gly216Asp) n.6G>A c.764G>A (p.Gly255Asp) c.272G>A (p.Gly91Asp) c.677G>A (p.Gly226Asp) c.410G>A (p.Gly137Asp) c.407G>A (p.Gly136Asp) n.959G>A n.911G>A | COSMIC |
| 9 | g.91220915C>A | CA373835225 | AUH | c.733G>T (p.Gly245Cys) c.646G>T (p.Gly216Cys) n.5G>T c.763G>T (p.Gly255Cys) c.271G>T (p.Gly91Cys) c.676G>T (p.Gly226Cys) c.409G>T (p.Gly137Cys) c.406G>T (p.Gly136Cys) n.958G>T n.910G>T | |
| 9 | g.91220915C= | CA1863689026 | AUH | c.733G= (p.Gly245=) c.646G= (p.Gly216=) n.5G= c.763G= (p.Gly255=) c.271G= (p.Gly91=) c.676G= (p.Gly226=) c.409G= (p.Gly137=) c.406G= (p.Gly136=) n.958G= n.910G= | |
| 9 | g.91220915C>G | CA373835226 | AUH | c.733G>C (p.Gly245Arg) c.646G>C (p.Gly216Arg) n.5G>C c.763G>C (p.Gly255Arg) c.271G>C (p.Gly91Arg) c.676G>C (p.Gly226Arg) c.409G>C (p.Gly137Arg) c.406G>C (p.Gly136Arg) n.958G>C n.910G>C | |
| 9 | g.91220915C>T | CA373835227 | AUH | c.733G>A (p.Gly245Ser) c.646G>A (p.Gly216Ser) n.5G>A c.763G>A (p.Gly255Ser) c.271G>A (p.Gly91Ser) c.676G>A (p.Gly226Ser) c.409G>A (p.Gly137Ser) c.406G>A (p.Gly136Ser) n.958G>A n.910G>A | dbSNP |
| 9 | g.91220916A>C | CA373835229 | AUH | c.732T>G (p.Asp244Glu) c.645T>G (p.Asp215Glu) n.4T>G c.762T>G (p.Asp254Glu) c.270T>G (p.Asp90Glu) c.675T>G (p.Asp225Glu) c.408T>G (p.Asp136Glu) c.405T>G (p.Asp135Glu) n.957T>G n.909T>G | COSMIC |
| 9 | g.91220916A>G | CA466225788 | AUH | c.732T>C (p.Asp244=) c.645T>C (p.Asp215=) n.4T>C c.762T>C (p.Asp254=) c.270T>C (p.Asp90=) c.675T>C (p.Asp225=) c.408T>C (p.Asp136=) c.405T>C (p.Asp135=) n.957T>C n.909T>C | |
| 9 | g.91220916A>T | CA373835228 | AUH | c.732T>A (p.Asp244Glu) c.645T>A (p.Asp215Glu) n.4T>A c.762T>A (p.Asp254Glu) c.270T>A (p.Asp90Glu) c.675T>A (p.Asp225Glu) c.408T>A (p.Asp136Glu) c.405T>A (p.Asp135Glu) n.957T>A n.909T>A | |
| 9 | g.91220917T>A | CA373835230 | AUH | c.731A>T (p.Asp244Val) c.644A>T (p.Asp215Val) n.3A>T c.761A>T (p.Asp254Val) c.269A>T (p.Asp90Val) c.674A>T (p.Asp225Val) c.407A>T (p.Asp136Val) c.404A>T (p.Asp135Val) n.956A>T n.908A>T | |
| 9 | g.91220917T>C | CA373835231 | AUH | c.731A>G (p.Asp244Gly) c.644A>G (p.Asp215Gly) n.3A>G c.761A>G (p.Asp254Gly) c.269A>G (p.Asp90Gly) c.674A>G (p.Asp225Gly) c.407A>G (p.Asp136Gly) c.404A>G (p.Asp135Gly) n.956A>G n.908A>G | gnomAD v4 |
| 9 | g.91220917T>G | CA373835232 | AUH | c.731A>C (p.Asp244Ala) c.644A>C (p.Asp215Ala) n.3A>C c.761A>C (p.Asp254Ala) c.269A>C (p.Asp90Ala) c.674A>C (p.Asp225Ala) c.407A>C (p.Asp136Ala) c.404A>C (p.Asp135Ala) n.956A>C n.908A>C | |
| 9 | g.91220918C>A | CA373835233 | AUH | c.730G>T (p.Asp244Tyr) c.643G>T (p.Asp215Tyr) n.2G>T c.760G>T (p.Asp254Tyr) c.268G>T (p.Asp90Tyr) c.673G>T (p.Asp225Tyr) c.406G>T (p.Asp136Tyr) c.403G>T (p.Asp135Tyr) n.955G>T n.907G>T | |
| 9 | g.91220918C= | CA1863689031 | AUH | c.730G= (p.Asp244=) c.643G= (p.Asp215=) n.2G= c.760G= (p.Asp254=) c.268G= (p.Asp90=) c.673G= (p.Asp225=) c.406G= (p.Asp136=) c.403G= (p.Asp135=) n.955G= n.907G= | |
| 9 | g.91220918C>G | CA373835234 | AUH | c.730G>C (p.Asp244His) c.643G>C (p.Asp215His) n.2G>C c.760G>C (p.Asp254His) c.268G>C (p.Asp90His) c.673G>C (p.Asp225His) c.406G>C (p.Asp136His) c.403G>C (p.Asp135His) n.955G>C n.907G>C | |
| 9 | g.91220918C>T | CA320067 | AUH | c.730G>A (p.Asp244Asn) c.643G>A (p.Asp215Asn) n.2G>A c.760G>A (p.Asp254Asn) c.268G>A (p.Asp90Asn) c.673G>A (p.Asp225Asn) c.406G>A (p.Asp136Asn) c.403G>A (p.Asp135Asn) n.955G>A n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220919G>A | CA5119745 | AUH | c.729C>T (p.Leu243=) c.642C>T (p.Leu214=) n.1C>T c.759C>T (p.Leu253=) c.267C>T (p.Leu89=) c.672C>T (p.Leu224=) c.405C>T (p.Leu135=) c.402C>T (p.Leu134=) n.954C>T n.906C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.91220919G>C | CA5119746 | AUH | c.729C>G (p.Leu243=) c.642C>G (p.Leu214=) n.1C>G c.759C>G (p.Leu253=) c.267C>G (p.Leu89=) c.672C>G (p.Leu224=) c.405C>G (p.Leu135=) c.402C>G (p.Leu134=) n.954C>G n.906C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220919G= | CA1863689035 | AUH | c.729C= (p.Leu243=) c.642C= (p.Leu214=) n.1C= c.759C= (p.Leu253=) c.267C= (p.Leu89=) c.672C= (p.Leu224=) c.405C= (p.Leu135=) c.402C= (p.Leu134=) n.954C= n.906C= | |
| 9 | g.91220919G>T | CA5119747 | AUH | c.729C>A (p.Leu243=) c.642C>A (p.Leu214=) n.1C>A c.759C>A (p.Leu253=) c.267C>A (p.Leu89=) c.672C>A (p.Leu224=) c.405C>A (p.Leu135=) c.402C>A (p.Leu134=) n.954C>A n.906C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.91220920A>C | CA373835235 | AUH | c.728T>G (p.Leu243Arg) c.641T>G (p.Leu214Arg) c.758T>G (p.Leu253Arg) c.266T>G (p.Leu89Arg) c.671T>G (p.Leu224Arg) c.404T>G (p.Leu135Arg) c.401T>G (p.Leu134Arg) n.953T>G n.905T>G | |
| 9 | g.91220920A>G | CA373835236 | AUH | c.728T>C (p.Leu243Pro) c.641T>C (p.Leu214Pro) c.758T>C (p.Leu253Pro) c.266T>C (p.Leu89Pro) c.671T>C (p.Leu224Pro) c.404T>C (p.Leu135Pro) c.401T>C (p.Leu134Pro) n.953T>C n.905T>C | |
| 9 | g.91220920A>T | CA373835237 | AUH | c.728T>A (p.Leu243His) c.641T>A (p.Leu214His) c.758T>A (p.Leu253His) c.266T>A (p.Leu89His) c.671T>A (p.Leu224His) c.404T>A (p.Leu135His) c.401T>A (p.Leu134His) n.953T>A n.905T>A | |
| 9 | g.91220921G>A | CA373835240 | AUH | c.727C>T (p.Leu243Phe) c.640C>T (p.Leu214Phe) c.757C>T (p.Leu253Phe) c.265C>T (p.Leu89Phe) c.670C>T (p.Leu224Phe) c.403C>T (p.Leu135Phe) c.400C>T (p.Leu134Phe) n.952C>T n.904C>T | |
| 9 | g.91220921G>C | CA373835239 | AUH | c.727C>G (p.Leu243Val) c.640C>G (p.Leu214Val) c.757C>G (p.Leu253Val) c.265C>G (p.Leu89Val) c.670C>G (p.Leu224Val) c.403C>G (p.Leu135Val) c.400C>G (p.Leu134Val) n.952C>G n.904C>G | gnomAD v4 |
| 9 | g.91220921G>T | CA373835238 | AUH | c.727C>A (p.Leu243Ile) c.640C>A (p.Leu214Ile) c.757C>A (p.Leu253Ile) c.265C>A (p.Leu89Ile) c.670C>A (p.Leu224Ile) c.403C>A (p.Leu135Ile) c.400C>A (p.Leu134Ile) n.952C>A n.904C>A | COSMIC |
| 9 | g.91220922G>A | CA466225808 | AUH | c.726C>T (p.Val242=) c.639C>T (p.Val213=) c.756C>T (p.Val252=) c.264C>T (p.Val88=) c.669C>T (p.Val223=) c.402C>T (p.Val134=) c.399C>T (p.Val133=) n.951C>T n.903C>T | gnomAD v4 |
| 9 | g.91220922G>C | CA466225804 | AUH | c.726C>G (p.Val242=) c.639C>G (p.Val213=) c.756C>G (p.Val252=) c.264C>G (p.Val88=) c.669C>G (p.Val223=) c.402C>G (p.Val134=) c.399C>G (p.Val133=) n.951C>G n.903C>G | |
| 9 | g.91220922G>T | CA466225806 | AUH | c.726C>A (p.Val242=) c.639C>A (p.Val213=) c.756C>A (p.Val252=) c.264C>A (p.Val88=) c.669C>A (p.Val223=) c.402C>A (p.Val134=) c.399C>A (p.Val133=) n.951C>A n.903C>A | gnomAD v4 |
| 9 | g.91220923A>C | CA373835241 | AUH | c.725T>G (p.Val242Gly) c.638T>G (p.Val213Gly) c.755T>G (p.Val252Gly) c.263T>G (p.Val88Gly) c.668T>G (p.Val223Gly) c.401T>G (p.Val134Gly) c.398T>G (p.Val133Gly) n.950T>G n.902T>G | |
| 9 | g.91220923A>G | CA373835242 | AUH | c.725T>C (p.Val242Ala) c.638T>C (p.Val213Ala) c.755T>C (p.Val252Ala) c.263T>C (p.Val88Ala) c.668T>C (p.Val223Ala) c.401T>C (p.Val134Ala) c.398T>C (p.Val133Ala) n.950T>C n.902T>C | |
| 9 | g.91220923A>T | CA373835243 | AUH | c.725T>A (p.Val242Asp) c.638T>A (p.Val213Asp) c.755T>A (p.Val252Asp) c.263T>A (p.Val88Asp) c.668T>A (p.Val223Asp) c.401T>A (p.Val134Asp) c.398T>A (p.Val133Asp) n.950T>A n.902T>A |