| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 9 | g.91220924C>A | CA373835244 | AUH | c.724G>T (p.Val242Phe) c.637G>T (p.Val213Phe) c.754G>T (p.Val252Phe) c.262G>T (p.Val88Phe) c.667G>T (p.Val223Phe) c.400G>T (p.Val134Phe) c.397G>T (p.Val133Phe) n.949G>T n.901G>T | |
| 9 | g.91220924C>G | CA373835245 | AUH | c.724G>C (p.Val242Leu) c.637G>C (p.Val213Leu) c.754G>C (p.Val252Leu) c.262G>C (p.Val88Leu) c.667G>C (p.Val223Leu) c.400G>C (p.Val134Leu) c.397G>C (p.Val133Leu) n.949G>C n.901G>C | |
| 9 | g.91220924C>T | CA373835246 | AUH | c.724G>A (p.Val242Ile) c.637G>A (p.Val213Ile) c.754G>A (p.Val252Ile) c.262G>A (p.Val88Ile) c.667G>A (p.Val223Ile) c.400G>A (p.Val134Ile) c.397G>A (p.Val133Ile) n.949G>A n.901G>A | gnomAD v4 |
| 9 | g.91220925T>A | CA466225813 | AUH | c.723A>T (p.Arg241=) c.636A>T (p.Arg212=) c.753A>T (p.Arg251=) c.261A>T (p.Arg87=) c.666A>T (p.Arg222=) c.399A>T (p.Arg133=) c.396A>T (p.Arg132=) n.948A>T n.900A>T | |
| 9 | g.91220925T>C | CA466225815 | AUH | c.723A>G (p.Arg241=) c.636A>G (p.Arg212=) c.753A>G (p.Arg251=) c.261A>G (p.Arg87=) c.666A>G (p.Arg222=) c.399A>G (p.Arg133=) c.396A>G (p.Arg132=) n.948A>G n.900A>G | gnomAD v4 |
| 9 | g.91220925T>G | CA466225816 | AUH | c.723A>C (p.Arg241=) c.636A>C (p.Arg212=) c.753A>C (p.Arg251=) c.261A>C (p.Arg87=) c.666A>C (p.Arg222=) c.399A>C (p.Arg133=) c.396A>C (p.Arg132=) n.948A>C n.900A>C | gnomAD v4 |
| 9 | g.91220926C>A | CA373835247 | AUH | c.722G>T (p.Arg241Leu) c.635G>T (p.Arg212Leu) c.752G>T (p.Arg251Leu) c.260G>T (p.Arg87Leu) c.665G>T (p.Arg222Leu) c.398G>T (p.Arg133Leu) c.395G>T (p.Arg132Leu) n.947G>T n.899G>T | gnomAD v4 |
| 9 | g.91220926C= | CA1863689039 | AUH | c.722G= (p.Arg241=) c.635G= (p.Arg212=) c.752G= (p.Arg251=) c.260G= (p.Arg87=) c.665G= (p.Arg222=) c.398G= (p.Arg133=) c.395G= (p.Arg132=) n.947G= n.899G= | |
| 9 | g.91220926C>G | CA373835248 | AUH | c.722G>C (p.Arg241Pro) c.635G>C (p.Arg212Pro) c.752G>C (p.Arg251Pro) c.260G>C (p.Arg87Pro) c.665G>C (p.Arg222Pro) c.398G>C (p.Arg133Pro) c.395G>C (p.Arg132Pro) n.947G>C n.899G>C | |
| 9 | g.91220926C>T | CA373835249 | AUH | c.722G>A (p.Arg241Gln) c.635G>A (p.Arg212Gln) c.752G>A (p.Arg251Gln) c.260G>A (p.Arg87Gln) c.665G>A (p.Arg222Gln) c.398G>A (p.Arg133Gln) c.395G>A (p.Arg132Gln) n.947G>A n.899G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220927G>A | CA5119748 | AUH | c.721C>T (p.Arg241Ter) c.634C>T (p.Arg212Ter) c.751C>T (p.Arg251Ter) c.259C>T (p.Arg87Ter) c.664C>T (p.Arg222Ter) c.397C>T (p.Arg133Ter) c.394C>T (p.Arg132Ter) n.946C>T n.898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220927G>C | CA373835250 | AUH | c.721C>G (p.Arg241Gly) c.634C>G (p.Arg212Gly) c.751C>G (p.Arg251Gly) c.259C>G (p.Arg87Gly) c.664C>G (p.Arg222Gly) c.397C>G (p.Arg133Gly) c.394C>G (p.Arg132Gly) n.946C>G n.898C>G | |
| 9 | g.91220927G= | CA1863689042 | AUH | c.721C= (p.Arg241=) c.634C= (p.Arg212=) c.751C= (p.Arg251=) c.259C= (p.Arg87=) c.664C= (p.Arg222=) c.397C= (p.Arg133=) c.394C= (p.Arg132=) n.946C= n.898C= | |
| 9 | g.91220927G>T | CA466225820 | AUH | c.721C>A (p.Arg241=) c.634C>A (p.Arg212=) c.751C>A (p.Arg251=) c.259C>A (p.Arg87=) c.664C>A (p.Arg222=) c.397C>A (p.Arg133=) c.394C>A (p.Arg132=) n.946C>A n.898C>A | |
| 9 | g.91220928C>A | CA466225824 | AUH | c.720G>T (p.Ala240=) c.633G>T (p.Ala211=) c.750G>T (p.Ala250=) c.258G>T (p.Ala86=) c.663G>T (p.Ala221=) c.396G>T (p.Ala132=) c.393G>T (p.Ala131=) n.945G>T n.897G>T | |
| 9 | g.91220928C= | CA1863689045 | AUH | c.720G= (p.Ala240=) c.633G= (p.Ala211=) c.750G= (p.Ala250=) c.258G= (p.Ala86=) c.663G= (p.Ala221=) c.396G= (p.Ala132=) c.393G= (p.Ala131=) n.945G= n.897G= | |
| 9 | g.91220928C>G | CA466225826 | AUH | c.720G>C (p.Ala240=) c.633G>C (p.Ala211=) c.750G>C (p.Ala250=) c.258G>C (p.Ala86=) c.663G>C (p.Ala221=) c.396G>C (p.Ala132=) c.393G>C (p.Ala131=) n.945G>C n.897G>C | |
| 9 | g.91220928C>T | CA5119749 | AUH | c.720G>A (p.Ala240=) c.633G>A (p.Ala211=) c.750G>A (p.Ala250=) c.258G>A (p.Ala86=) c.663G>A (p.Ala221=) c.396G>A (p.Ala132=) c.393G>A (p.Ala131=) n.945G>A n.897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220929G>A | CA5119750 | AUH | c.719C>T (p.Ala240Val) c.632C>T (p.Ala211Val) c.749C>T (p.Ala250Val) c.257C>T (p.Ala86Val) c.662C>T (p.Ala221Val) c.395C>T (p.Ala132Val) c.392C>T (p.Ala131Val) n.944C>T n.896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.91220929G>C | CA373835252 | AUH | c.719C>G (p.Ala240Gly) c.632C>G (p.Ala211Gly) c.749C>G (p.Ala250Gly) c.257C>G (p.Ala86Gly) c.662C>G (p.Ala221Gly) c.395C>G (p.Ala132Gly) c.392C>G (p.Ala131Gly) n.944C>G n.896C>G | |
| 9 | g.91220929G= | CA1863689048 | AUH | c.719C= (p.Ala240=) c.632C= (p.Ala211=) c.749C= (p.Ala250=) c.257C= (p.Ala86=) c.662C= (p.Ala221=) c.395C= (p.Ala132=) c.392C= (p.Ala131=) n.944C= n.896C= | |
| 9 | g.91220929G>T | CA373835251 | AUH | c.719C>A (p.Ala240Glu) c.632C>A (p.Ala211Glu) c.749C>A (p.Ala250Glu) c.257C>A (p.Ala86Glu) c.662C>A (p.Ala221Glu) c.395C>A (p.Ala132Glu) c.392C>A (p.Ala131Glu) n.944C>A n.896C>A | |
| 9 | g.91220930C>A | CA373835253 | AUH | c.718G>T (p.Ala240Ser) c.631G>T (p.Ala211Ser) c.748G>T (p.Ala250Ser) c.256G>T (p.Ala86Ser) c.661G>T (p.Ala221Ser) c.394G>T (p.Ala132Ser) c.391G>T (p.Ala131Ser) n.943G>T n.895G>T | |
| 9 | g.91220930C>G | CA373835254 | AUH | c.718G>C (p.Ala240Pro) c.631G>C (p.Ala211Pro) c.748G>C (p.Ala250Pro) c.256G>C (p.Ala86Pro) c.661G>C (p.Ala221Pro) c.394G>C (p.Ala132Pro) c.391G>C (p.Ala131Pro) n.943G>C n.895G>C | |
| 9 | g.91220930C>T | CA373835255 | AUH | c.718G>A (p.Ala240Thr) c.631G>A (p.Ala211Thr) c.748G>A (p.Ala250Thr) c.256G>A (p.Ala86Thr) c.661G>A (p.Ala221Thr) c.394G>A (p.Ala132Thr) c.391G>A (p.Ala131Thr) n.943G>A n.895G>A | |
| 9 | g.91220931A>C | CA466225834 | AUH | c.717T>G (p.Ser239=) c.630T>G (p.Ser210=) c.747T>G (p.Ser249=) c.255T>G (p.Ser85=) c.660T>G (p.Ser220=) c.393T>G (p.Ser131=) c.390T>G (p.Ser130=) n.942T>G n.894T>G | |
| 9 | g.91220931A>G | CA466225836 | AUH | c.717T>C (p.Ser239=) c.630T>C (p.Ser210=) c.747T>C (p.Ser249=) c.255T>C (p.Ser85=) c.660T>C (p.Ser220=) c.393T>C (p.Ser131=) c.390T>C (p.Ser130=) n.942T>C n.894T>C | |
| 9 | g.91220931A>T | CA466225837 | AUH | c.717T>A (p.Ser239=) c.630T>A (p.Ser210=) c.747T>A (p.Ser249=) c.255T>A (p.Ser85=) c.660T>A (p.Ser220=) c.393T>A (p.Ser131=) c.390T>A (p.Ser130=) n.942T>A n.894T>A | |
| 9 | g.91220932G>A | CA373835256 | AUH | c.716C>T (p.Ser239Phe) c.629C>T (p.Ser210Phe) c.746C>T (p.Ser249Phe) c.254C>T (p.Ser85Phe) c.659C>T (p.Ser220Phe) c.392C>T (p.Ser131Phe) c.389C>T (p.Ser130Phe) n.941C>T n.893C>T | gnomAD v4 |
| 9 | g.91220932G>C | CA373835257 | AUH | c.716C>G (p.Ser239Cys) c.629C>G (p.Ser210Cys) c.746C>G (p.Ser249Cys) c.254C>G (p.Ser85Cys) c.659C>G (p.Ser220Cys) c.392C>G (p.Ser131Cys) c.389C>G (p.Ser130Cys) n.941C>G n.893C>G | |
| 9 | g.91220932G= | CA1863689053 | AUH | c.716C= (p.Ser239=) c.629C= (p.Ser210=) c.746C= (p.Ser249=) c.254C= (p.Ser85=) c.659C= (p.Ser220=) c.392C= (p.Ser131=) c.389C= (p.Ser130=) n.941C= n.893C= | |
| 9 | g.91220932G>T | CA5119751 | AUH | c.716C>A (p.Ser239Tyr) c.629C>A (p.Ser210Tyr) c.746C>A (p.Ser249Tyr) c.254C>A (p.Ser85Tyr) c.659C>A (p.Ser220Tyr) c.392C>A (p.Ser131Tyr) c.389C>A (p.Ser130Tyr) n.941C>A n.893C>A | dbSNP ExAC gnomAD v2 |
| 9 | g.91220933A>C | CA373835258 | AUH | c.715T>G (p.Ser239Ala) c.628T>G (p.Ser210Ala) c.745T>G (p.Ser249Ala) c.253T>G (p.Ser85Ala) c.658T>G (p.Ser220Ala) c.391T>G (p.Ser131Ala) c.388T>G (p.Ser130Ala) n.940T>G n.892T>G | |
| 9 | g.91220933A>G | CA373835260 | AUH | c.715T>C (p.Ser239Pro) c.628T>C (p.Ser210Pro) c.745T>C (p.Ser249Pro) c.253T>C (p.Ser85Pro) c.658T>C (p.Ser220Pro) c.391T>C (p.Ser131Pro) c.388T>C (p.Ser130Pro) n.940T>C n.892T>C | |
| 9 | g.91220933A>T | CA373835259 | AUH | c.715T>A (p.Ser239Thr) c.628T>A (p.Ser210Thr) c.745T>A (p.Ser249Thr) c.253T>A (p.Ser85Thr) c.658T>A (p.Ser220Thr) c.391T>A (p.Ser131Thr) c.388T>A (p.Ser130Thr) n.940T>A n.892T>A | |
| 9 | g.91220934G>A | CA466225844 | AUH | c.714C>T (p.Phe238=) c.627C>T (p.Phe209=) c.744C>T (p.Phe248=) c.252C>T (p.Phe84=) c.657C>T (p.Phe219=) c.390C>T (p.Phe130=) c.387C>T (p.Phe129=) n.939C>T n.891C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220934G>C | CA373835261 | AUH | c.714C>G (p.Phe238Leu) c.627C>G (p.Phe209Leu) c.744C>G (p.Phe248Leu) c.252C>G (p.Phe84Leu) c.657C>G (p.Phe219Leu) c.390C>G (p.Phe130Leu) c.387C>G (p.Phe129Leu) n.939C>G n.891C>G | |
| 9 | g.91220934G= | CA1863689055 | AUH | c.714C= (p.Phe238=) c.627C= (p.Phe209=) c.744C= (p.Phe248=) c.252C= (p.Phe84=) c.657C= (p.Phe219=) c.390C= (p.Phe130=) c.387C= (p.Phe129=) n.939C= n.891C= | |
| 9 | g.91220934G>T | CA373835262 | AUH | c.714C>A (p.Phe238Leu) c.627C>A (p.Phe209Leu) c.744C>A (p.Phe248Leu) c.252C>A (p.Phe84Leu) c.657C>A (p.Phe219Leu) c.390C>A (p.Phe130Leu) c.387C>A (p.Phe129Leu) n.939C>A n.891C>A | gnomAD v4 COSMIC |
| 9 | g.91220935A= | CA1863689060 | AUH | c.713T= (p.Phe238=) c.626T= (p.Phe209=) c.743T= (p.Phe248=) c.251T= (p.Phe84=) c.656T= (p.Phe219=) c.389T= (p.Phe130=) c.386T= (p.Phe129=) n.938T= n.890T= | |
| 9 | g.91220935A>C | CA373835263 | AUH | c.713T>G (p.Phe238Cys) c.626T>G (p.Phe209Cys) c.743T>G (p.Phe248Cys) c.251T>G (p.Phe84Cys) c.656T>G (p.Phe219Cys) c.389T>G (p.Phe130Cys) c.386T>G (p.Phe129Cys) n.938T>G n.890T>G | |
| 9 | g.91220935A>G | CA373835264 | AUH | c.713T>C (p.Phe238Ser) c.626T>C (p.Phe209Ser) c.743T>C (p.Phe248Ser) c.251T>C (p.Phe84Ser) c.656T>C (p.Phe219Ser) c.389T>C (p.Phe130Ser) c.386T>C (p.Phe129Ser) n.938T>C n.890T>C | ClinVar dbSNP |
| 9 | g.91220935A>T | CA373835265 | AUH | c.713T>A (p.Phe238Tyr) c.626T>A (p.Phe209Tyr) c.743T>A (p.Phe248Tyr) c.251T>A (p.Phe84Tyr) c.656T>A (p.Phe219Tyr) c.389T>A (p.Phe130Tyr) c.386T>A (p.Phe129Tyr) n.938T>A n.890T>A | |
| 9 | g.91220936A= | CA1863689065 | AUH | c.712T= (p.Phe238=) c.625T= (p.Phe209=) c.742T= (p.Phe248=) c.250T= (p.Phe84=) c.655T= (p.Phe219=) c.388T= (p.Phe130=) c.385T= (p.Phe129=) n.937T= n.889T= | |
| 9 | g.91220936A>C | CA373835267 | AUH | c.712T>G (p.Phe238Val) c.625T>G (p.Phe209Val) c.742T>G (p.Phe248Val) c.250T>G (p.Phe84Val) c.655T>G (p.Phe219Val) c.388T>G (p.Phe130Val) c.385T>G (p.Phe129Val) n.937T>G n.889T>G | |
| 9 | g.91220936A>G | CA195893154 | AUH | c.712T>C (p.Phe238Leu) c.625T>C (p.Phe209Leu) c.742T>C (p.Phe248Leu) c.250T>C (p.Phe84Leu) c.655T>C (p.Phe219Leu) c.388T>C (p.Phe130Leu) c.385T>C (p.Phe129Leu) n.937T>C n.889T>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.91220936A>T | CA373835266 | AUH | c.712T>A (p.Phe238Ile) c.625T>A (p.Phe209Ile) c.742T>A (p.Phe248Ile) c.250T>A (p.Phe84Ile) c.655T>A (p.Phe219Ile) c.388T>A (p.Phe130Ile) c.385T>A (p.Phe129Ile) n.937T>A n.889T>A | |
| 9 | g.91220937T>A | CA466225851 | AUH | c.711A>T (p.Ile237=) c.624A>T (p.Ile208=) c.741A>T (p.Ile247=) c.249A>T (p.Ile83=) c.654A>T (p.Ile218=) c.387A>T (p.Ile129=) c.384A>T (p.Ile128=) n.936A>T n.888A>T | |
| 9 | g.91220937T>C | CA373835268 | AUH | c.711A>G (p.Ile237Met) c.624A>G (p.Ile208Met) c.741A>G (p.Ile247Met) c.249A>G (p.Ile83Met) c.654A>G (p.Ile218Met) c.387A>G (p.Ile129Met) c.384A>G (p.Ile128Met) n.936A>G n.888A>G | |
| 9 | g.91220937T>G | CA466225854 | AUH | c.711A>C (p.Ile237=) c.624A>C (p.Ile208=) c.741A>C (p.Ile247=) c.249A>C (p.Ile83=) c.654A>C (p.Ile218=) c.387A>C (p.Ile129=) c.384A>C (p.Ile128=) n.936A>C n.888A>C | |
| 9 | g.91220938A>C | CA373835269 | AUH | c.710T>G (p.Ile237Arg) c.623T>G (p.Ile208Arg) c.740T>G (p.Ile247Arg) c.248T>G (p.Ile83Arg) c.653T>G (p.Ile218Arg) c.386T>G (p.Ile129Arg) c.383T>G (p.Ile128Arg) n.935T>G n.887T>G | |
| 9 | g.91220938A>G | CA373835271 | AUH | c.710T>C (p.Ile237Thr) c.623T>C (p.Ile208Thr) c.740T>C (p.Ile247Thr) c.248T>C (p.Ile83Thr) c.653T>C (p.Ile218Thr) c.386T>C (p.Ile129Thr) c.383T>C (p.Ile128Thr) n.935T>C n.887T>C | |
| 9 | g.91220938A>T | CA373835270 | AUH | c.710T>A (p.Ile237Lys) c.623T>A (p.Ile208Lys) c.740T>A (p.Ile247Lys) c.248T>A (p.Ile83Lys) c.653T>A (p.Ile218Lys) c.386T>A (p.Ile129Lys) c.383T>A (p.Ile128Lys) n.935T>A n.887T>A | |
| 9 | g.91220939T>A | CA373835272 | AUH | c.709A>T (p.Ile237Leu) c.622A>T (p.Ile208Leu) c.739A>T (p.Ile247Leu) c.247A>T (p.Ile83Leu) c.652A>T (p.Ile218Leu) c.385A>T (p.Ile129Leu) c.382A>T (p.Ile128Leu) n.934A>T n.886A>T | |
| 9 | g.91220939T>C | CA5119752 | AUH | c.709A>G (p.Ile237Val) c.622A>G (p.Ile208Val) c.739A>G (p.Ile247Val) c.247A>G (p.Ile83Val) c.652A>G (p.Ile218Val) c.385A>G (p.Ile129Val) c.382A>G (p.Ile128Val) n.934A>G n.886A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220939T>G | CA373835273 | AUH | c.709A>C (p.Ile237Leu) c.622A>C (p.Ile208Leu) c.739A>C (p.Ile247Leu) c.247A>C (p.Ile83Leu) c.652A>C (p.Ile218Leu) c.385A>C (p.Ile129Leu) c.382A>C (p.Ile128Leu) n.934A>C n.886A>C | |
| 9 | g.91220939T= | CA1863689069 | AUH | c.709A= (p.Ile237=) c.622A= (p.Ile208=) c.739A= (p.Ile247=) c.247A= (p.Ile83=) c.652A= (p.Ile218=) c.385A= (p.Ile129=) c.382A= (p.Ile128=) n.934A= n.886A= | |
| 9 | g.91220940G>A | CA466225861 | AUH | c.708C>T (p.Leu236=) c.621C>T (p.Leu207=) c.738C>T (p.Leu246=) c.246C>T (p.Leu82=) c.651C>T (p.Leu217=) c.384C>T (p.Leu128=) c.381C>T (p.Leu127=) n.933C>T n.885C>T | |
| 9 | g.91220940G>C | CA466225862 | AUH | c.708C>G (p.Leu236=) c.621C>G (p.Leu207=) c.738C>G (p.Leu246=) c.246C>G (p.Leu82=) c.651C>G (p.Leu217=) c.384C>G (p.Leu128=) c.381C>G (p.Leu127=) n.933C>G n.885C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91220940G= | CA1863689071 | AUH | c.708C= (p.Leu236=) c.621C= (p.Leu207=) c.738C= (p.Leu246=) c.246C= (p.Leu82=) c.651C= (p.Leu217=) c.384C= (p.Leu128=) c.381C= (p.Leu127=) n.933C= n.885C= | |
| 9 | g.91220940G>T | CA466225864 | AUH | c.708C>A (p.Leu236=) c.621C>A (p.Leu207=) c.738C>A (p.Leu246=) c.246C>A (p.Leu82=) c.651C>A (p.Leu217=) c.384C>A (p.Leu128=) c.381C>A (p.Leu127=) n.933C>A n.885C>A | |
| 9 | g.91220941A>C | CA373835274 | AUH | c.707T>G (p.Leu236Arg) c.620T>G (p.Leu207Arg) c.737T>G (p.Leu246Arg) c.245T>G (p.Leu82Arg) c.650T>G (p.Leu217Arg) c.383T>G (p.Leu128Arg) c.380T>G (p.Leu127Arg) n.932T>G n.884T>G | |
| 9 | g.91220941A>G | CA373835275 | AUH | c.707T>C (p.Leu236Pro) c.620T>C (p.Leu207Pro) c.737T>C (p.Leu246Pro) c.245T>C (p.Leu82Pro) c.650T>C (p.Leu217Pro) c.383T>C (p.Leu128Pro) c.380T>C (p.Leu127Pro) n.932T>C n.884T>C | |
| 9 | g.91220941A>T | CA373835276 | AUH | c.707T>A (p.Leu236His) c.620T>A (p.Leu207His) c.737T>A (p.Leu246His) c.245T>A (p.Leu82His) c.650T>A (p.Leu217His) c.383T>A (p.Leu128His) c.380T>A (p.Leu127His) n.932T>A n.884T>A | |
| 9 | g.91220942G>A | CA373835277 | AUH | c.706C>T (p.Leu236Phe) c.619C>T (p.Leu207Phe) c.736C>T (p.Leu246Phe) c.244C>T (p.Leu82Phe) c.649C>T (p.Leu217Phe) c.382C>T (p.Leu128Phe) c.379C>T (p.Leu127Phe) n.931C>T n.883C>T | |
| 9 | g.91220942G>C | CA373835278 | AUH | c.706C>G (p.Leu236Val) c.619C>G (p.Leu207Val) c.736C>G (p.Leu246Val) c.244C>G (p.Leu82Val) c.649C>G (p.Leu217Val) c.382C>G (p.Leu128Val) c.379C>G (p.Leu127Val) n.931C>G n.883C>G | |
| 9 | g.91220942G>T | CA373835279 | AUH | c.706C>A (p.Leu236Ile) c.619C>A (p.Leu207Ile) c.736C>A (p.Leu246Ile) c.244C>A (p.Leu82Ile) c.649C>A (p.Leu217Ile) c.382C>A (p.Leu128Ile) c.379C>A (p.Leu127Ile) n.931C>A n.883C>A | |
| 9 | g.91220943C>A | CA373835280 | AUH | c.705G>T (p.Glu235Asp) c.618G>T (p.Glu206Asp) c.735G>T (p.Glu245Asp) c.243G>T (p.Glu81Asp) c.648G>T (p.Glu216Asp) c.381G>T (p.Glu127Asp) c.378G>T (p.Glu126Asp) n.930G>T n.882G>T | |
| 9 | g.91220943C>G | CA373835281 | AUH | c.705G>C (p.Glu235Asp) c.618G>C (p.Glu206Asp) c.735G>C (p.Glu245Asp) c.243G>C (p.Glu81Asp) c.648G>C (p.Glu216Asp) c.381G>C (p.Glu127Asp) c.378G>C (p.Glu126Asp) n.930G>C n.882G>C | |
| 9 | g.91220943C>T | CA466225871 | AUH | c.705G>A (p.Glu235=) c.618G>A (p.Glu206=) c.735G>A (p.Glu245=) c.243G>A (p.Glu81=) c.648G>A (p.Glu216=) c.381G>A (p.Glu127=) c.378G>A (p.Glu126=) n.930G>A n.882G>A | gnomAD v4 |
| 9 | g.91220944T>A | CA373835282 | AUH | c.704A>T (p.Glu235Val) c.617A>T (p.Glu206Val) c.734A>T (p.Glu245Val) c.242A>T (p.Glu81Val) c.647A>T (p.Glu216Val) c.380A>T (p.Glu127Val) c.377A>T (p.Glu126Val) n.929A>T n.881A>T | |
| 9 | g.91220944T>C | CA373835283 | AUH | c.704A>G (p.Glu235Gly) c.617A>G (p.Glu206Gly) c.734A>G (p.Glu245Gly) c.242A>G (p.Glu81Gly) c.647A>G (p.Glu216Gly) c.380A>G (p.Glu127Gly) c.377A>G (p.Glu126Gly) n.929A>G n.881A>G | |
| 9 | g.91220944T>G | CA373835284 | AUH | c.704A>C (p.Glu235Ala) c.617A>C (p.Glu206Ala) c.734A>C (p.Glu245Ala) c.242A>C (p.Glu81Ala) c.647A>C (p.Glu216Ala) c.380A>C (p.Glu127Ala) c.377A>C (p.Glu126Ala) n.929A>C n.881A>C | |
| 9 | g.91220945C>A | CA373835287 | AUH | c.703G>T (p.Glu235Ter) c.616G>T (p.Glu206Ter) c.733G>T (p.Glu245Ter) c.241G>T (p.Glu81Ter) c.646G>T (p.Glu216Ter) c.379G>T (p.Glu127Ter) c.376G>T (p.Glu126Ter) n.928G>T n.880G>T | |
| 9 | g.91220945C= | CA1863689074 | AUH | c.703G= (p.Glu235=) c.616G= (p.Glu206=) c.733G= (p.Glu245=) c.241G= (p.Glu81=) c.646G= (p.Glu216=) c.379G= (p.Glu127=) c.376G= (p.Glu126=) n.928G= n.880G= | |
| 9 | g.91220945C>G | CA373835286 | AUH | c.703G>C (p.Glu235Gln) c.616G>C (p.Glu206Gln) c.733G>C (p.Glu245Gln) c.241G>C (p.Glu81Gln) c.646G>C (p.Glu216Gln) c.379G>C (p.Glu127Gln) c.376G>C (p.Glu126Gln) n.928G>C n.880G>C | |
| 9 | g.91220945C>T | CA373835285 | AUH | c.703G>A (p.Glu235Lys) c.616G>A (p.Glu206Lys) c.733G>A (p.Glu245Lys) c.241G>A (p.Glu81Lys) c.646G>A (p.Glu216Lys) c.379G>A (p.Glu127Lys) c.376G>A (p.Glu126Lys) n.928G>A n.880G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91220946C>A | CA373835288 | AUH | c.702G>T (p.Lys234Asn) c.615G>T (p.Lys205Asn) c.732G>T (p.Lys244Asn) c.240G>T (p.Lys80Asn) c.645G>T (p.Lys215Asn) c.378G>T (p.Lys126Asn) c.375G>T (p.Lys125Asn) n.927G>T n.879G>T | |
| 9 | g.91220946C>G | CA373835289 | AUH | c.702G>C (p.Lys234Asn) c.615G>C (p.Lys205Asn) c.732G>C (p.Lys244Asn) c.240G>C (p.Lys80Asn) c.645G>C (p.Lys215Asn) c.378G>C (p.Lys126Asn) c.375G>C (p.Lys125Asn) n.927G>C n.879G>C | |
| 9 | g.91220946C>T | CA466225881 | AUH | c.702G>A (p.Lys234=) c.615G>A (p.Lys205=) c.732G>A (p.Lys244=) c.240G>A (p.Lys80=) c.645G>A (p.Lys215=) c.378G>A (p.Lys126=) c.375G>A (p.Lys125=) n.927G>A n.879G>A |