Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184372726G>A | CA355461497 | EIF2B5,THPO | c.1269C>T (p.Ser423=) c.849C>T (p.Ser283=) c.832C>T (p.Pro278Ser) c.733C>T (p.Pro245Ser) c.2106+228019G>A (n.2106+228019G>A) c.837C>T (p.Ser279=) c.1141C>T (p.Pro381Ser) | |
3 | g.184372726G>C | CA355461498 | EIF2B5,THPO | c.1269C>G (p.Ser423=) c.849C>G (p.Ser283=) c.832C>G (p.Pro278Ala) c.733C>G (p.Pro245Ala) c.2106+228019G>C (n.2106+228019G>C) c.837C>G (p.Ser279=) c.1141C>G (p.Pro381Ala) | |
3 | g.184372726G>T | CA355461499 | EIF2B5,THPO | c.1269C>A (p.Ser423=) c.849C>A (p.Ser283=) c.832C>A (p.Pro278Thr) c.733C>A (p.Pro245Thr) c.2106+228019G>T (n.2106+228019G>T) c.837C>A (p.Ser279=) c.1141C>A (p.Pro381Thr) | |
3 | g.184372727G>A | CA2734857 | EIF2B5,THPO | c.1268C>T (p.Ser423Phe) c.848C>T (p.Ser283Phe) c.831C>T (p.Leu277=) c.732C>T (p.Leu244=) c.2106+228020G>A (n.2106+228020G>A) c.836C>T (p.Ser279Phe) c.1140C>T (p.Leu380=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184372727G>C | CA355461500 | EIF2B5,THPO | c.1268C>G (p.Ser423Cys) c.848C>G (p.Ser283Cys) c.831C>G (p.Leu277=) c.732C>G (p.Leu244=) c.2106+228020G>C (n.2106+228020G>C) c.836C>G (p.Ser279Cys) c.1140C>G (p.Leu380=) | |
3 | g.184372727G= | CA1425997794 | EIF2B5,THPO | c.1268C= (p.Ser423=) c.848C= (p.Ser283=) c.831C= (p.Leu277=) c.732C= (p.Leu244=) c.2106+228020G= (n.2106+228020G=) c.836C= (p.Ser279=) c.1140C= (p.Leu380=) | |
3 | g.184372727G>T | CA355461501 | EIF2B5,THPO | c.1268C>A (p.Ser423Tyr) c.848C>A (p.Ser283Tyr) c.831C>A (p.Leu277=) c.732C>A (p.Leu244=) c.2106+228020G>T (n.2106+228020G>T) c.836C>A (p.Ser279Tyr) c.1140C>A (p.Leu380=) | |
3 | g.184372728A= | CA1425997795 | EIF2B5,THPO | c.1267T= (p.Ser423=) c.847T= (p.Ser283=) c.830T= (p.Leu277=) c.731T= (p.Leu244=) c.2106+228021A= (n.2106+228021A=) c.835T= (p.Ser279=) c.1139T= (p.Leu380=) | |
3 | g.184372728A>C | CA355461502 | EIF2B5,THPO | c.1267T>G (p.Ser423Ala) c.847T>G (p.Ser283Ala) c.830T>G (p.Leu277Arg) c.731T>G (p.Leu244Arg) c.2106+228021A>C (n.2106+228021A>C) c.835T>G (p.Ser279Ala) c.1139T>G (p.Leu380Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372728A>G | CA355461503 | EIF2B5,THPO | c.1267T>C (p.Ser423Pro) c.847T>C (p.Ser283Pro) c.830T>C (p.Leu277Pro) c.731T>C (p.Leu244Pro) c.2106+228021A>G (n.2106+228021A>G) c.835T>C (p.Ser279Pro) c.1139T>C (p.Leu380Pro) | |
3 | g.184372728A>T | CA355461504 | EIF2B5,THPO | c.1267T>A (p.Ser423Thr) c.847T>A (p.Ser283Thr) c.830T>A (p.Leu277His) c.731T>A (p.Leu244His) c.2106+228021A>T (n.2106+228021A>T) c.835T>A (p.Ser279Thr) c.1139T>A (p.Leu380His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184372729G>A | CA355461505 | EIF2B5,THPO | c.1266C>T (p.Gly422=) c.846C>T (p.Gly282=) c.829C>T (p.Leu277Phe) c.730C>T (p.Leu244Phe) c.2106+228022G>A (n.2106+228022G>A) c.834C>T (p.Gly278=) c.1138C>T (p.Leu380Phe) | |
3 | g.184372729G>C | CA2734858 | EIF2B5,THPO | c.1266C>G (p.Gly422=) c.846C>G (p.Gly282=) c.829C>G (p.Leu277Val) c.730C>G (p.Leu244Val) c.2106+228022G>C (n.2106+228022G>C) c.834C>G (p.Gly278=) c.1138C>G (p.Leu380Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372729G= | CA1425997796 | EIF2B5,THPO | c.1266C= (p.Gly422=) c.846C= (p.Gly282=) c.829C= (p.Leu277=) c.730C= (p.Leu244=) c.2106+228022G= (n.2106+228022G=) c.834C= (p.Gly278=) c.1138C= (p.Leu380=) | |
3 | g.184372729G>T | CA355461506 | EIF2B5,THPO | c.1266C>A (p.Gly422=) c.846C>A (p.Gly282=) c.829C>A (p.Leu277Ile) c.730C>A (p.Leu244Ile) c.2106+228022G>T (n.2106+228022G>T) c.834C>A (p.Gly278=) c.1138C>A (p.Leu380Ile) | |
3 | g.184372730C>A | CA355461509 | EIF2B5,THPO | c.1265G>T (p.Gly422Val) c.845G>T (p.Gly282Val) c.828G>T (p.Arg276Ser) c.729G>T (p.Arg243Ser) c.2106+228023C>A (n.2106+228023C>A) c.833G>T (p.Gly278Val) c.1137G>T (p.Arg379Ser) | |
3 | g.184372730C>G | CA355461508 | EIF2B5,THPO | c.1265G>C (p.Gly422Ala) c.845G>C (p.Gly282Ala) c.828G>C (p.Arg276Ser) c.729G>C (p.Arg243Ser) c.2106+228023C>G (n.2106+228023C>G) c.833G>C (p.Gly278Ala) c.1137G>C (p.Arg379Ser) | |
3 | g.184372730C>T | CA355461507 | EIF2B5,THPO | c.1265G>A (p.Gly422Asp) c.845G>A (p.Gly282Asp) c.828G>A (p.Arg276=) c.729G>A (p.Arg243=) c.2106+228023C>T (n.2106+228023C>T) c.833G>A (p.Gly278Asp) c.1137G>A (p.Arg379=) | COSMIC |
3 | g.184372730_184372731insACTCTTAGTAGATCAGCTCTTCTGCCCTTGAGCTCCCTGGAAGAGCCCTTCTTCCCTCAGGTCTTCTAGTGGGA | CA2668832915 | EIF2B5,THPO | c.1264_1265insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Gly422ValfsTer21) c.844_845insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Gly282ValfsTer21) c.827_828insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Arg276SerfsTer24) c.728_729insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Arg243SerfsTer24) c.2106+228023_2106+228024insACTCTTAGTAGATCAGCTCTTCTGCCCTTGAGCTCCCTGGAAGAGCCCTTCTTCCCTCAGGTCTTCTAGTGGGA (n.2106+228023_2106+228024insACTCTTAGTAGATCAGCTCTTCTGCCCTTGAGCTCCCTGGAAGAGCCCTTCTTCCCTCAGGTCTTCTAGTGGGA) c.832_833insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Gly278ValfsTer21) c.1136_1137insTCCCACTAGAAGACCTGAGGGAAGAAGGGCTCTTCCAGGGAGCTCAAGGGCAGAAGAGCTGATCTACTAAGAGT (p.Arg379SerfsTer24) | gnomAD v4 |
3 | g.184372731C>A | CA355461510 | EIF2B5,THPO | c.1264G>T (p.Gly422Cys) c.844G>T (p.Gly282Cys) c.827G>T (p.Arg276Met) c.728G>T (p.Arg243Met) c.2106+228024C>A (n.2106+228024C>A) c.832G>T (p.Gly278Cys) c.1136G>T (p.Arg379Met) | |
3 | g.184372731C>G | CA355461512 | EIF2B5,THPO | c.1264G>C (p.Gly422Arg) c.844G>C (p.Gly282Arg) c.827G>C (p.Arg276Thr) c.728G>C (p.Arg243Thr) c.2106+228024C>G (n.2106+228024C>G) c.832G>C (p.Gly278Arg) c.1136G>C (p.Arg379Thr) | |
3 | g.184372731C>T | CA355461511 | EIF2B5,THPO | c.1264G>A (p.Gly422Ser) c.844G>A (p.Gly282Ser) c.827G>A (p.Arg276Lys) c.728G>A (p.Arg243Lys) c.2106+228024C>T (n.2106+228024C>T) c.832G>A (p.Gly278Ser) c.1136G>A (p.Arg379Lys) | COSMIC |
3 | g.184372732T>A | CA355461513 | EIF2B5,THPO | c.1263A>T (p.Thr421=) c.843A>T (p.Thr281=) c.826A>T (p.Arg276Trp) c.727A>T (p.Arg243Trp) c.2106+228025T>A (n.2106+228025T>A) c.831A>T (p.Thr277=) c.1135A>T (p.Arg379Trp) | |
3 | g.184372732T>C | CA355461514 | EIF2B5,THPO | c.1263A>G (p.Thr421=) c.843A>G (p.Thr281=) c.826A>G (p.Arg276Gly) c.727A>G (p.Arg243Gly) c.2106+228025T>C (n.2106+228025T>C) c.831A>G (p.Thr277=) c.1135A>G (p.Arg379Gly) | gnomAD v4 COSMIC |
3 | g.184372732T>G | CA437332289 | EIF2B5,THPO | c.1263A>C (p.Thr421=) c.843A>C (p.Thr281=) c.826A>C (p.Arg276=) c.727A>C (p.Arg243=) c.2106+228025T>G (n.2106+228025T>G) c.831A>C (p.Thr277=) c.1135A>C (p.Arg379=) | |
3 | g.184372733G>A | CA355461515 | EIF2B5,THPO | c.1262C>T (p.Thr421Ile) c.842C>T (p.Thr281Ile) c.825C>T (p.His275=) c.726C>T (p.His242=) c.2106+228026G>A (n.2106+228026G>A) c.830C>T (p.Thr277Ile) c.1134C>T (p.His378=) | dbSNP COSMIC |
3 | g.184372733G>C | CA355461516 | EIF2B5,THPO | c.1262C>G (p.Thr421Arg) c.842C>G (p.Thr281Arg) c.825C>G (p.His275Gln) c.726C>G (p.His242Gln) c.2106+228026G>C (n.2106+228026G>C) c.830C>G (p.Thr277Arg) c.1134C>G (p.His378Gln) | |
3 | g.184372733G>T | CA355461517 | EIF2B5,THPO | c.1262C>A (p.Thr421Lys) c.842C>A (p.Thr281Lys) c.825C>A (p.His275Gln) c.726C>A (p.His242Gln) c.2106+228026G>T (n.2106+228026G>T) c.830C>A (p.Thr277Lys) c.1134C>A (p.His378Gln) | |
3 | g.184372734T>A | CA355461518 | EIF2B5,THPO | c.1261A>T (p.Thr421Ser) c.841A>T (p.Thr281Ser) c.824A>T (p.His275Leu) c.725A>T (p.His242Leu) c.2106+228027T>A (n.2106+228027T>A) c.829A>T (p.Thr277Ser) c.1133A>T (p.His378Leu) | |
3 | g.184372734T>C | CA2734859 | EIF2B5,THPO | c.1261A>G (p.Thr421Ala) c.841A>G (p.Thr281Ala) c.824A>G (p.His275Arg) c.725A>G (p.His242Arg) c.2106+228027T>C (n.2106+228027T>C) c.829A>G (p.Thr277Ala) c.1133A>G (p.His378Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372734T>G | CA355461519 | EIF2B5,THPO | c.1261A>C (p.Thr421Pro) c.841A>C (p.Thr281Pro) c.824A>C (p.His275Pro) c.725A>C (p.His242Pro) c.2106+228027T>G (n.2106+228027T>G) c.829A>C (p.Thr277Pro) c.1133A>C (p.His378Pro) | |
3 | g.184372734T= | CA1425997797 | EIF2B5,THPO | c.1261A= (p.Thr421=) c.841A= (p.Thr281=) c.824A= (p.His275=) c.725A= (p.His242=) c.2106+228027T= (n.2106+228027T=) c.829A= (p.Thr277=) c.1133A= (p.His378=) | |
3 | g.184372735G>A | CA355461520 | EIF2B5,THPO | c.1260C>T (p.Asp420=) c.840C>T (p.Asp280=) c.823C>T (p.His275Tyr) c.724C>T (p.His242Tyr) c.2106+228028G>A (n.2106+228028G>A) c.828C>T (p.Asp276=) c.1132C>T (p.His378Tyr) | |
3 | g.184372735G>C | CA355461521 | EIF2B5,THPO | c.1260C>G (p.Asp420Glu) c.840C>G (p.Asp280Glu) c.823C>G (p.His275Asp) c.724C>G (p.His242Asp) c.2106+228028G>C (n.2106+228028G>C) c.828C>G (p.Asp276Glu) c.1132C>G (p.His378Asp) | |
3 | g.184372735G>T | CA355461522 | EIF2B5,THPO | c.1260C>A (p.Asp420Glu) c.840C>A (p.Asp280Glu) c.823C>A (p.His275Asn) c.724C>A (p.His242Asn) c.2106+228028G>T (n.2106+228028G>T) c.828C>A (p.Asp276Glu) c.1132C>A (p.His378Asn) | |
3 | g.184372736T>A | CA355461523 | EIF2B5,THPO | c.1259A>T (p.Asp420Val) c.839A>T (p.Asp280Val) c.822A>T (p.Arg274Ser) c.723A>T (p.Arg241Ser) c.2106+228029T>A (n.2106+228029T>A) c.827A>T (p.Asp276Val) c.1131A>T (p.Arg377Ser) | |
3 | g.184372736T>C | CA355461524 | EIF2B5,THPO | c.1259A>G (p.Asp420Gly) c.839A>G (p.Asp280Gly) c.822A>G (p.Arg274=) c.723A>G (p.Arg241=) c.2106+228029T>C (n.2106+228029T>C) c.827A>G (p.Asp276Gly) c.1131A>G (p.Arg377=) | |
3 | g.184372736T>G | CA355461525 | EIF2B5,THPO | c.1259A>C (p.Asp420Ala) c.839A>C (p.Asp280Ala) c.822A>C (p.Arg274Ser) c.723A>C (p.Arg241Ser) c.2106+228029T>G (n.2106+228029T>G) c.827A>C (p.Asp276Ala) c.1131A>C (p.Arg377Ser) | |
3 | g.184372737C>A | CA355461528 | EIF2B5,THPO | c.1258G>T (p.Asp420Tyr) c.838G>T (p.Asp280Tyr) c.821G>T (p.Arg274Ile) c.722G>T (p.Arg241Ile) c.2106+228030C>A (n.2106+228030C>A) c.826G>T (p.Asp276Tyr) c.1130G>T (p.Arg377Ile) | |
3 | g.184372737C= | CA1425997798 | EIF2B5,THPO | c.1258G= (p.Asp420=) c.838G= (p.Asp280=) c.821G= (p.Arg274=) c.722G= (p.Arg241=) c.2106+228030C= (n.2106+228030C=) c.826G= (p.Asp276=) c.1130G= (p.Arg377=) | |
3 | g.184372737C>G | CA355461526 | EIF2B5,THPO | c.1258G>C (p.Asp420His) c.838G>C (p.Asp280His) c.821G>C (p.Arg274Thr) c.722G>C (p.Arg241Thr) c.2106+228030C>G (n.2106+228030C>G) c.826G>C (p.Asp276His) c.1130G>C (p.Arg377Thr) | |
3 | g.184372737C>T | CA355461527 | EIF2B5,THPO | c.1258G>A (p.Asp420Asn) c.838G>A (p.Asp280Asn) c.821G>A (p.Arg274Lys) c.722G>A (p.Arg241Lys) c.2106+228030C>T (n.2106+228030C>T) c.826G>A (p.Asp276Asn) c.1130G>A (p.Arg377Lys) | dbSNP gnomAD v4 |
3 | g.184372738T>A | CA355461529 | EIF2B5,THPO | c.1257A>T (p.Ser419=) c.837A>T (p.Ser279=) c.820A>T (p.Arg274Ter) c.721A>T (p.Arg241Ter) c.2106+228031T>A (n.2106+228031T>A) c.825A>T (p.Ser275=) c.1129A>T (p.Arg377Ter) | |
3 | g.184372738T>C | CA355461530 | EIF2B5,THPO | c.1257A>G (p.Ser419=) c.837A>G (p.Ser279=) c.820A>G (p.Arg274Gly) c.721A>G (p.Arg241Gly) c.2106+228031T>C (n.2106+228031T>C) c.825A>G (p.Ser275=) c.1129A>G (p.Arg377Gly) | |
3 | g.184372738T>G | CA437332299 | EIF2B5,THPO | c.1257A>C (p.Ser419=) c.837A>C (p.Ser279=) c.820A>C (p.Arg274=) c.721A>C (p.Arg241=) c.2106+228031T>G (n.2106+228031T>G) c.825A>C (p.Ser275=) c.1129A>C (p.Arg377=) | |
3 | g.184372739G>A | CA355461531 | EIF2B5,THPO | c.1256C>T (p.Ser419Leu) c.836C>T (p.Ser279Leu) c.819C>T (p.Ile273=) c.720C>T (p.Ile240=) c.2106+228032G>A (n.2106+228032G>A) c.824C>T (p.Ser275Leu) c.1128C>T (p.Ile376=) | |
3 | g.184372739G>C | CA355461532 | EIF2B5,THPO | c.1256C>G (p.Ser419Ter) c.836C>G (p.Ser279Ter) c.819C>G (p.Ile273Met) c.720C>G (p.Ile240Met) c.2106+228032G>C (n.2106+228032G>C) c.824C>G (p.Ser275Ter) c.1128C>G (p.Ile376Met) | |
3 | g.184372739G>T | CA355461533 | EIF2B5,THPO | c.1256C>A (p.Ser419Ter) c.836C>A (p.Ser279Ter) c.819C>A (p.Ile273=) c.720C>A (p.Ile240=) c.2106+228032G>T (n.2106+228032G>T) c.824C>A (p.Ser275Ter) c.1128C>A (p.Ile376=) | |
3 | g.184372740A>C | CA355461534 | EIF2B5,THPO | c.1255T>G (p.Ser419Ala) c.835T>G (p.Ser279Ala) c.818T>G (p.Ile273Ser) c.719T>G (p.Ile240Ser) c.2106+228033A>C (n.2106+228033A>C) c.823T>G (p.Ser275Ala) c.1127T>G (p.Ile376Ser) | |
3 | g.184372740A>G | CA355461535 | EIF2B5,THPO | c.1255T>C (p.Ser419Pro) c.835T>C (p.Ser279Pro) c.818T>C (p.Ile273Thr) c.719T>C (p.Ile240Thr) c.2106+228033A>G (n.2106+228033A>G) c.823T>C (p.Ser275Pro) c.1127T>C (p.Ile376Thr) | |
3 | g.184372740A>T | CA355461536 | EIF2B5,THPO | c.1255T>A (p.Ser419Thr) c.835T>A (p.Ser279Thr) c.818T>A (p.Ile273Asn) c.719T>A (p.Ile240Asn) c.2106+228033A>T (n.2106+228033A>T) c.823T>A (p.Ser275Thr) c.1127T>A (p.Ile376Asn) | |
3 | g.184372741T>A | CA355461537 | EIF2B5,THPO | c.1254A>T (p.Thr418=) c.834A>T (p.Thr278=) c.817A>T (p.Ile273Phe) c.718A>T (p.Ile240Phe) c.2106+228034T>A (n.2106+228034T>A) c.822A>T (p.Thr274=) c.1126A>T (p.Ile376Phe) | |
3 | g.184372741T>C | CA355461538 | EIF2B5,THPO | c.1254A>G (p.Thr418=) c.834A>G (p.Thr278=) c.817A>G (p.Ile273Val) c.718A>G (p.Ile240Val) c.2106+228034T>C (n.2106+228034T>C) c.822A>G (p.Thr274=) c.1126A>G (p.Ile376Val) | |
3 | g.184372741T>G | CA355461539 | EIF2B5,THPO | c.1254A>C (p.Thr418=) c.834A>C (p.Thr278=) c.817A>C (p.Ile273Leu) c.718A>C (p.Ile240Leu) c.2106+228034T>G (n.2106+228034T>G) c.822A>C (p.Thr274=) c.1126A>C (p.Ile376Leu) | |
3 | g.184372742G>A | CA355461542 | EIF2B5,THPO | c.1253C>T (p.Thr418Ile) c.833C>T (p.Thr278Ile) c.816C>T (p.Asn272=) c.717C>T (p.Asn239=) c.2106+228035G>A (n.2106+228035G>A) c.821C>T (p.Thr274Ile) c.1125C>T (p.Asn375=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372742G>C | CA355461541 | EIF2B5,THPO | c.1253C>G (p.Thr418Arg) c.833C>G (p.Thr278Arg) c.816C>G (p.Asn272Lys) c.717C>G (p.Asn239Lys) c.2106+228035G>C (n.2106+228035G>C) c.821C>G (p.Thr274Arg) c.1125C>G (p.Asn375Lys) | |
3 | g.184372742G= | CA1425997799 | EIF2B5,THPO | c.1253C= (p.Thr418=) c.833C= (p.Thr278=) c.816C= (p.Asn272=) c.717C= (p.Asn239=) c.2106+228035G= (n.2106+228035G=) c.821C= (p.Thr274=) c.1125C= (p.Asn375=) | |
3 | g.184372742G>T | CA355461540 | EIF2B5,THPO | c.1253C>A (p.Thr418Lys) c.833C>A (p.Thr278Lys) c.816C>A (p.Asn272Lys) c.717C>A (p.Asn239Lys) c.2106+228035G>T (n.2106+228035G>T) c.821C>A (p.Thr274Lys) c.1125C>A (p.Asn375Lys) | |
3 | g.184372743T>A | CA355461543 | EIF2B5,THPO | c.1252A>T (p.Thr418Ser) c.832A>T (p.Thr278Ser) c.815A>T (p.Asn272Ile) c.716A>T (p.Asn239Ile) c.2106+228036T>A (n.2106+228036T>A) c.820A>T (p.Thr274Ser) c.1124A>T (p.Asn375Ile) | |
3 | g.184372743T>C | CA355461544 | EIF2B5,THPO | c.1252A>G (p.Thr418Ala) c.832A>G (p.Thr278Ala) c.815A>G (p.Asn272Ser) c.716A>G (p.Asn239Ser) c.2106+228036T>C (n.2106+228036T>C) c.820A>G (p.Thr274Ala) c.1124A>G (p.Asn375Ser) | ClinVar dbSNP |
3 | g.184372743T>G | CA355461545 | EIF2B5,THPO | c.1252A>C (p.Thr418Pro) c.832A>C (p.Thr278Pro) c.815A>C (p.Asn272Thr) c.716A>C (p.Asn239Thr) c.2106+228036T>G (n.2106+228036T>G) c.820A>C (p.Thr274Pro) c.1124A>C (p.Asn375Thr) | |
3 | g.184372744T>A | CA355461546 | EIF2B5,THPO | c.1251A>T (p.Gly417=) c.831A>T (p.Gly277=) c.814A>T (p.Asn272Tyr) c.715A>T (p.Asn239Tyr) c.2106+228037T>A (n.2106+228037T>A) c.819A>T (p.Gly273=) c.1123A>T (p.Asn375Tyr) | |
3 | g.184372744T>C | CA355461547 | EIF2B5,THPO | c.1251A>G (p.Gly417=) c.831A>G (p.Gly277=) c.814A>G (p.Asn272Asp) c.715A>G (p.Asn239Asp) c.2106+228037T>C (n.2106+228037T>C) c.819A>G (p.Gly273=) c.1123A>G (p.Asn375Asp) | dbSNP gnomAD v4 |
3 | g.184372744T>G | CA355461548 | EIF2B5,THPO | c.1251A>C (p.Gly417=) c.831A>C (p.Gly277=) c.814A>C (p.Asn272His) c.715A>C (p.Asn239His) c.2106+228037T>G (n.2106+228037T>G) c.819A>C (p.Gly273=) c.1123A>C (p.Asn375His) | |
3 | g.184372744T= | CA1425997800 | EIF2B5,THPO | c.1251A= (p.Gly417=) c.831A= (p.Gly277=) c.814A= (p.Asn272=) c.715A= (p.Asn239=) c.2106+228037T= (n.2106+228037T=) c.819A= (p.Gly273=) c.1123A= (p.Asn375=) | |
3 | g.184372745C>A | CA355461549 | EIF2B5,THPO | c.1250G>T (p.Gly417Val) c.830G>T (p.Gly277Val) c.813G>T (p.Arg271Ser) c.714G>T (p.Arg238Ser) c.2106+228038C>A (n.2106+228038C>A) c.818G>T (p.Gly273Val) c.1122G>T (p.Arg374Ser) | dbSNP |
3 | g.184372745C= | CA1425997801 | EIF2B5,THPO | c.1250G= (p.Gly417=) c.830G= (p.Gly277=) c.813G= (p.Arg271=) c.714G= (p.Arg238=) c.2106+228038C= (n.2106+228038C=) c.818G= (p.Gly273=) c.1122G= (p.Arg374=) | |
3 | g.184372745C>G | CA355461550 | EIF2B5,THPO | c.1250G>C (p.Gly417Ala) c.830G>C (p.Gly277Ala) c.813G>C (p.Arg271Ser) c.714G>C (p.Arg238Ser) c.2106+228038C>G (n.2106+228038C>G) c.818G>C (p.Gly273Ala) c.1122G>C (p.Arg374Ser) | |
3 | g.184372745C>T | CA355461551 | EIF2B5,THPO | c.1250G>A (p.Gly417Glu) c.830G>A (p.Gly277Glu) c.813G>A (p.Arg271=) c.714G>A (p.Arg238=) c.2106+228038C>T (n.2106+228038C>T) c.818G>A (p.Gly273Glu) c.1122G>A (p.Arg374=) | |
3 | g.184372746C>A | CA355461552 | EIF2B5,THPO | c.1249G>T (p.Gly417Ter) c.829G>T (p.Gly277Ter) c.812G>T (p.Arg271Met) c.713G>T (p.Arg238Met) c.2106+228039C>A (n.2106+228039C>A) c.817G>T (p.Gly273Ter) c.1121G>T (p.Arg374Met) | |
3 | g.184372746C>G | CA355461553 | EIF2B5,THPO | c.1249G>C (p.Gly417Arg) c.829G>C (p.Gly277Arg) c.812G>C (p.Arg271Thr) c.713G>C (p.Arg238Thr) c.2106+228039C>G (n.2106+228039C>G) c.817G>C (p.Gly273Arg) c.1121G>C (p.Arg374Thr) | |
3 | g.184372746C>T | CA355461554 | EIF2B5,THPO | c.1249G>A (p.Gly417Arg) c.829G>A (p.Gly277Arg) c.812G>A (p.Arg271Lys) c.713G>A (p.Arg238Lys) c.2106+228039C>T (n.2106+228039C>T) c.817G>A (p.Gly273Arg) c.1121G>A (p.Arg374Lys) | |
3 | g.184372747T>A | CA355461556 | EIF2B5,THPO | c.1248A>T (p.Ser416=) c.828A>T (p.Ser276=) c.811A>T (p.Arg271Trp) c.712A>T (p.Arg238Trp) c.2106+228040T>A (n.2106+228040T>A) c.816A>T (p.Ser272=) c.1120A>T (p.Arg374Trp) | |
3 | g.184372747T>C | CA355461555 | EIF2B5,THPO | c.1248A>G (p.Ser416=) c.828A>G (p.Ser276=) c.811A>G (p.Arg271Gly) c.712A>G (p.Arg238Gly) c.2106+228040T>C (n.2106+228040T>C) c.816A>G (p.Ser272=) c.1120A>G (p.Arg374Gly) | gnomAD v4 |
3 | g.184372747T>G | CA437332533 | EIF2B5,THPO | c.1248A>C (p.Ser416=) c.828A>C (p.Ser276=) c.811A>C (p.Arg271=) c.712A>C (p.Arg238=) c.2106+228040T>G (n.2106+228040T>G) c.816A>C (p.Ser272=) c.1120A>C (p.Arg374=) | |
3 | g.184372748G>A | CA355461557 | EIF2B5,THPO | c.1247C>T (p.Ser416Leu) c.827C>T (p.Ser276Leu) c.810C>T (p.Leu270=) c.711C>T (p.Leu237=) c.2106+228041G>A (n.2106+228041G>A) c.815C>T (p.Ser272Leu) c.1119C>T (p.Leu373=) | COSMIC |
3 | g.184372748G>C | CA355461558 | EIF2B5,THPO | c.1247C>G (p.Ser416Ter) c.827C>G (p.Ser276Ter) c.810C>G (p.Leu270=) c.711C>G (p.Leu237=) c.2106+228041G>C (n.2106+228041G>C) c.815C>G (p.Ser272Ter) c.1119C>G (p.Leu373=) | |
3 | g.184372748G>T | CA355461559 | EIF2B5,THPO | c.1247C>A (p.Ser416Ter) c.827C>A (p.Ser276Ter) c.810C>A (p.Leu270=) c.711C>A (p.Leu237=) c.2106+228041G>T (n.2106+228041G>T) c.815C>A (p.Ser272Ter) c.1119C>A (p.Leu373=) | |
3 | g.184372749A= | CA1425997802 | EIF2B5,THPO | c.1246T= (p.Ser416=) c.826T= (p.Ser276=) c.809T= (p.Leu270=) c.710T= (p.Leu237=) c.2106+228042A= (n.2106+228042A=) c.814T= (p.Ser272=) c.1118T= (p.Leu373=) | |
3 | g.184372749A>C | CA355461560 | EIF2B5,THPO | c.1246T>G (p.Ser416Ala) c.826T>G (p.Ser276Ala) c.809T>G (p.Leu270Arg) c.710T>G (p.Leu237Arg) c.2106+228042A>C (n.2106+228042A>C) c.814T>G (p.Ser272Ala) c.1118T>G (p.Leu373Arg) | |
3 | g.184372749A>G | CA355461561 | EIF2B5,THPO | c.1246T>C (p.Ser416Pro) c.826T>C (p.Ser276Pro) c.809T>C (p.Leu270Pro) c.710T>C (p.Leu237Pro) c.2106+228042A>G (n.2106+228042A>G) c.814T>C (p.Ser272Pro) c.1118T>C (p.Leu373Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372749A>T | CA355461562 | EIF2B5,THPO | c.1246T>A (p.Ser416Thr) c.826T>A (p.Ser276Thr) c.809T>A (p.Leu270His) c.710T>A (p.Leu237His) c.2106+228042A>T (n.2106+228042A>T) c.814T>A (p.Ser272Thr) c.1118T>A (p.Leu373His) | |
3 | g.184372750G>A | CA355461563 | EIF2B5,THPO | c.1245C>T (p.Ser415=) c.825C>T (p.Ser275=) c.808C>T (p.Leu270Phe) c.709C>T (p.Leu237Phe) c.2106+228043G>A (n.2106+228043G>A) c.813C>T (p.Ser271=) c.1117C>T (p.Leu373Phe) | gnomAD v4 |
3 | g.184372750G>C | CA355461564 | EIF2B5,THPO | c.1245C>G (p.Ser415=) c.825C>G (p.Ser275=) c.808C>G (p.Leu270Val) c.709C>G (p.Leu237Val) c.2106+228043G>C (n.2106+228043G>C) c.813C>G (p.Ser271=) c.1117C>G (p.Leu373Val) | |
3 | g.184372750G>T | CA355461565 | EIF2B5,THPO | c.1245C>A (p.Ser415=) c.825C>A (p.Ser275=) c.808C>A (p.Leu270Ile) c.709C>A (p.Leu237Ile) c.2106+228043G>T (n.2106+228043G>T) c.813C>A (p.Ser271=) c.1117C>A (p.Leu373Ile) | |
3 | g.184372751del | CA2573136814 | EIF2B5,THPO | c.1245del (p.Ser416GlnfsTer?) c.825del (p.Ser276GlnfsTer?) c.808del (p.Leu270SerfsTer?) c.709del (p.Leu237SerfsTer?) c.2106+228044del (n.2106+228044del) c.813del (p.Ser272GlnfsTer?) c.1117del (p.Leu373SerfsTer?) | ClinVar dbSNP |
3 | g.184372751G>A | CA355461566 | EIF2B5,THPO | c.1244C>T (p.Ser415Phe) c.824C>T (p.Ser275Phe) c.807C>T (p.Phe269=) c.708C>T (p.Phe236=) c.2106+228044G>A (n.2106+228044G>A) c.812C>T (p.Ser271Phe) c.1116C>T (p.Phe372=) | |
3 | g.184372751G>C | CA355461567 | EIF2B5,THPO | c.1244C>G (p.Ser415Cys) c.824C>G (p.Ser275Cys) c.807C>G (p.Phe269Leu) c.708C>G (p.Phe236Leu) c.2106+228044G>C (n.2106+228044G>C) c.812C>G (p.Ser271Cys) c.1116C>G (p.Phe372Leu) | |
3 | g.184372751G>T | CA355461568 | EIF2B5,THPO | c.1244C>A (p.Ser415Tyr) c.824C>A (p.Ser275Tyr) c.807C>A (p.Phe269Leu) c.708C>A (p.Phe236Leu) c.2106+228044G>T (n.2106+228044G>T) c.812C>A (p.Ser271Tyr) c.1116C>A (p.Phe372Leu) | gnomAD v2 gnomAD v4 |
3 | g.184372752A>C | CA355461571 | EIF2B5,THPO | c.1243T>G (p.Ser415Ala) c.823T>G (p.Ser275Ala) c.806T>G (p.Phe269Cys) c.707T>G (p.Phe236Cys) c.2106+228045A>C (n.2106+228045A>C) c.811T>G (p.Ser271Ala) c.1115T>G (p.Phe372Cys) | |
3 | g.184372752A>G | CA355461570 | EIF2B5,THPO | c.1243T>C (p.Ser415Pro) c.823T>C (p.Ser275Pro) c.806T>C (p.Phe269Ser) c.707T>C (p.Phe236Ser) c.2106+228045A>G (n.2106+228045A>G) c.811T>C (p.Ser271Pro) c.1115T>C (p.Phe372Ser) | |
3 | g.184372752A>T | CA355461569 | EIF2B5,THPO | c.1243T>A (p.Ser415Thr) c.823T>A (p.Ser275Thr) c.806T>A (p.Phe269Tyr) c.707T>A (p.Phe236Tyr) c.2106+228045A>T (n.2106+228045A>T) c.811T>A (p.Ser271Thr) c.1115T>A (p.Phe372Tyr) | |
3 | g.184372753A>C | CA355461572 | EIF2B5,THPO | c.1242T>G (p.Ile414Met) c.822T>G (p.Ile274Met) c.805T>G (p.Phe269Val) c.706T>G (p.Phe236Val) c.2106+228046A>C (n.2106+228046A>C) c.810T>G (p.Ile270Met) c.1114T>G (p.Phe372Val) | |
3 | g.184372753A>G | CA355461573 | EIF2B5,THPO | c.1242T>C (p.Ile414=) c.822T>C (p.Ile274=) c.805T>C (p.Phe269Leu) c.706T>C (p.Phe236Leu) c.2106+228046A>G (n.2106+228046A>G) c.810T>C (p.Ile270=) c.1114T>C (p.Phe372Leu) | |
3 | g.184372753A>T | CA355461574 | EIF2B5,THPO | c.1242T>A (p.Ile414=) c.822T>A (p.Ile274=) c.805T>A (p.Phe269Ile) c.706T>A (p.Phe236Ile) c.2106+228046A>T (n.2106+228046A>T) c.810T>A (p.Ile270=) c.1114T>A (p.Phe372Ile) | |
3 | g.184372754A>C | CA355461575 | EIF2B5,THPO | c.1241T>G (p.Ile414Ser) c.821T>G (p.Ile274Ser) c.804T>G (p.His268Gln) c.705T>G (p.His235Gln) c.2106+228047A>C (n.2106+228047A>C) c.809T>G (p.Ile270Ser) c.1113T>G (p.His371Gln) | |
3 | g.184372754A>G | CA355461576 | EIF2B5,THPO | c.1241T>C (p.Ile414Thr) c.821T>C (p.Ile274Thr) c.804T>C (p.His268=) c.705T>C (p.His235=) c.2106+228047A>G (n.2106+228047A>G) c.809T>C (p.Ile270Thr) c.1113T>C (p.His371=) | |
3 | g.184372754A>T | CA355461577 | EIF2B5,THPO | c.1241T>A (p.Ile414Asn) c.821T>A (p.Ile274Asn) c.804T>A (p.His268Gln) c.705T>A (p.His235Gln) c.2106+228047A>T (n.2106+228047A>T) c.809T>A (p.Ile270Asn) c.1113T>A (p.His371Gln) | |
3 | g.184372755T>A | CA355461580 | EIF2B5,THPO | c.1240A>T (p.Ile414Phe) c.820A>T (p.Ile274Phe) c.803A>T (p.His268Leu) c.704A>T (p.His235Leu) c.2106+228048T>A (n.2106+228048T>A) c.808A>T (p.Ile270Phe) c.1112A>T (p.His371Leu) | gnomAD v4 |
3 | g.184372755T>C | CA355461579 | EIF2B5,THPO | c.1240A>G (p.Ile414Val) c.820A>G (p.Ile274Val) c.803A>G (p.His268Arg) c.704A>G (p.His235Arg) c.2106+228048T>C (n.2106+228048T>C) c.808A>G (p.Ile270Val) c.1112A>G (p.His371Arg) | COSMIC |
3 | g.184372755T>G | CA355461578 | EIF2B5,THPO | c.1240A>C (p.Ile414Leu) c.820A>C (p.Ile274Leu) c.803A>C (p.His268Pro) c.704A>C (p.His235Pro) c.2106+228048T>G (n.2106+228048T>G) c.808A>C (p.Ile270Leu) c.1112A>C (p.His371Pro) | |
3 | g.184372756G>A | CA355461581 | EIF2B5,THPO | c.1239C>T (p.Asp413=) c.819C>T (p.Asp273=) c.802C>T (p.His268Tyr) c.703C>T (p.His235Tyr) c.2106+228049G>A (n.2106+228049G>A) c.807C>T (p.Asp269=) c.1111C>T (p.His371Tyr) | dbSNP |
3 | g.184372756G>C | CA355461582 | EIF2B5,THPO | c.1239C>G (p.Asp413Glu) c.819C>G (p.Asp273Glu) c.802C>G (p.His268Asp) c.703C>G (p.His235Asp) c.2106+228049G>C (n.2106+228049G>C) c.807C>G (p.Asp269Glu) c.1111C>G (p.His371Asp) | |
3 | g.184372756G= | CA1425997803 | EIF2B5,THPO | c.1239C= (p.Asp413=) c.819C= (p.Asp273=) c.802C= (p.His268=) c.703C= (p.His235=) c.2106+228049G= (n.2106+228049G=) c.807C= (p.Asp269=) c.1111C= (p.His371=) | |
3 | g.184372756G>T | CA2734860 | EIF2B5,THPO | c.1239C>A (p.Asp413Glu) c.819C>A (p.Asp273Glu) c.802C>A (p.His268Asn) c.703C>A (p.His235Asn) c.2106+228049G>T (n.2106+228049G>T) c.807C>A (p.Asp269Glu) c.1111C>A (p.His371Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372757T>A | CA355461583 | EIF2B5,THPO | c.1238A>T (p.Asp413Val) c.818A>T (p.Asp273Val) c.801A>T (p.Gly267=) c.702A>T (p.Gly234=) c.2106+228050T>A (n.2106+228050T>A) c.806A>T (p.Asp269Val) c.1110A>T (p.Gly370=) | |
3 | g.184372757T>C | CA88912202 | EIF2B5,THPO | c.1238A>G (p.Asp413Gly) c.818A>G (p.Asp273Gly) c.801A>G (p.Gly267=) c.702A>G (p.Gly234=) c.2106+228050T>C (n.2106+228050T>C) c.806A>G (p.Asp269Gly) c.1110A>G (p.Gly370=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372757T>G | CA355461584 | EIF2B5,THPO | c.1238A>C (p.Asp413Ala) c.818A>C (p.Asp273Ala) c.801A>C (p.Gly267=) c.702A>C (p.Gly234=) c.2106+228050T>G (n.2106+228050T>G) c.806A>C (p.Asp269Ala) c.1110A>C (p.Gly370=) | |
3 | g.184372757T= | CA1425997804 | EIF2B5,THPO | c.1238A= (p.Asp413=) c.818A= (p.Asp273=) c.801A= (p.Gly267=) c.702A= (p.Gly234=) c.2106+228050T= (n.2106+228050T=) c.806A= (p.Asp269=) c.1110A= (p.Gly370=) | |
3 | g.184372758C>A | CA355461585 | EIF2B5,THPO | c.1237G>T (p.Asp413Tyr) c.817G>T (p.Asp273Tyr) c.800G>T (p.Gly267Val) c.701G>T (p.Gly234Val) c.2106+228051C>A (n.2106+228051C>A) c.805G>T (p.Asp269Tyr) c.1109G>T (p.Gly370Val) | |
3 | g.184372758C>G | CA355461587 | EIF2B5,THPO | c.1237G>C (p.Asp413His) c.817G>C (p.Asp273His) c.800G>C (p.Gly267Ala) c.701G>C (p.Gly234Ala) c.2106+228051C>G (n.2106+228051C>G) c.805G>C (p.Asp269His) c.1109G>C (p.Gly370Ala) | gnomAD v4 |
3 | g.184372758C>T | CA355461586 | EIF2B5,THPO | c.1237G>A (p.Asp413Asn) c.817G>A (p.Asp273Asn) c.800G>A (p.Gly267Glu) c.701G>A (p.Gly234Glu) c.2106+228051C>T (n.2106+228051C>T) c.805G>A (p.Asp269Asn) c.1109G>A (p.Gly370Glu) | gnomAD v4 |
3 | g.184372759C>A | CA355461588 | EIF2B5,THPO | c.1236G>T (p.Pro412=) c.816G>T (p.Pro272=) c.799G>T (p.Gly267Ter) c.700G>T (p.Gly234Ter) c.2106+228052C>A (n.2106+228052C>A) c.804G>T (p.Pro268=) c.1108G>T (p.Gly370Ter) | COSMIC |
3 | g.184372759C= | CA1425997805 | EIF2B5,THPO | c.1236G= (p.Pro412=) c.816G= (p.Pro272=) c.799G= (p.Gly267=) c.700G= (p.Gly234=) c.2106+228052C= (n.2106+228052C=) c.804G= (p.Pro268=) c.1108G= (p.Gly370=) | |
3 | g.184372759C>G | CA355461589 | EIF2B5,THPO | c.1236G>C (p.Pro412=) c.816G>C (p.Pro272=) c.799G>C (p.Gly267Arg) c.700G>C (p.Gly234Arg) c.2106+228052C>G (n.2106+228052C>G) c.804G>C (p.Pro268=) c.1108G>C (p.Gly370Arg) | gnomAD v4 |
3 | g.184372759C>T | CA2734861 | EIF2B5,THPO | c.1236G>A (p.Pro412=) c.816G>A (p.Pro272=) c.799G>A (p.Gly267Arg) c.700G>A (p.Gly234Arg) c.2106+228052C>T (n.2106+228052C>T) c.804G>A (p.Pro268=) c.1108G>A (p.Gly370Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372760G>A | CA2734862 | EIF2B5,THPO | c.1235C>T (p.Pro412Leu) c.815C>T (p.Pro272Leu) c.798C>T (p.Pro266=) c.699C>T (p.Pro233=) c.2106+228053G>A (n.2106+228053G>A) c.803C>T (p.Pro268Leu) c.1107C>T (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372760G>C | CA355461590 | EIF2B5,THPO | c.1235C>G (p.Pro412Arg) c.815C>G (p.Pro272Arg) c.798C>G (p.Pro266=) c.699C>G (p.Pro233=) c.2106+228053G>C (n.2106+228053G>C) c.803C>G (p.Pro268Arg) c.1107C>G (p.Pro369=) | |
3 | g.184372760G= | CA1425997806 | EIF2B5,THPO | c.1235C= (p.Pro412=) c.815C= (p.Pro272=) c.798C= (p.Pro266=) c.699C= (p.Pro233=) c.2106+228053G= (n.2106+228053G=) c.803C= (p.Pro268=) c.1107C= (p.Pro369=) | |
3 | g.184372760G>T | CA355461591 | EIF2B5,THPO | c.1235C>A (p.Pro412Gln) c.815C>A (p.Pro272Gln) c.798C>A (p.Pro266=) c.699C>A (p.Pro233=) c.2106+228053G>T (n.2106+228053G>T) c.803C>A (p.Pro268Gln) c.1107C>A (p.Pro369=) | |
3 | g.184372761G>A | CA355461592 | EIF2B5,THPO | c.1234C>T (p.Pro412Ser) c.814C>T (p.Pro272Ser) c.797C>T (p.Pro266Leu) c.698C>T (p.Pro233Leu) c.2106+228054G>A (n.2106+228054G>A) c.802C>T (p.Pro268Ser) c.1106C>T (p.Pro369Leu) | |
3 | g.184372761G>C | CA355461593 | EIF2B5,THPO | c.1234C>G (p.Pro412Ala) c.814C>G (p.Pro272Ala) c.797C>G (p.Pro266Arg) c.698C>G (p.Pro233Arg) c.2106+228054G>C (n.2106+228054G>C) c.802C>G (p.Pro268Ala) c.1106C>G (p.Pro369Arg) | |
3 | g.184372761G>T | CA355461594 | EIF2B5,THPO | c.1234C>A (p.Pro412Thr) c.814C>A (p.Pro272Thr) c.797C>A (p.Pro266His) c.698C>A (p.Pro233His) c.2106+228054G>T (n.2106+228054G>T) c.802C>A (p.Pro268Thr) c.1106C>A (p.Pro369His) | |
3 | g.184372762G>A | CA2734863 | EIF2B5,THPO | c.1233C>T (p.Ala411=) c.813C>T (p.Ala271=) c.796C>T (p.Pro266Ser) c.697C>T (p.Pro233Ser) c.2106+228055G>A (n.2106+228055G>A) c.801C>T (p.Ala267=) c.1105C>T (p.Pro369Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372762G>C | CA355461595 | EIF2B5,THPO | c.1233C>G (p.Ala411=) c.813C>G (p.Ala271=) c.796C>G (p.Pro266Ala) c.697C>G (p.Pro233Ala) c.2106+228055G>C (n.2106+228055G>C) c.801C>G (p.Ala267=) c.1105C>G (p.Pro369Ala) | |
3 | g.184372762G= | CA1425997807 | EIF2B5,THPO | c.1233C= (p.Ala411=) c.813C= (p.Ala271=) c.796C= (p.Pro266=) c.697C= (p.Pro233=) c.2106+228055G= (n.2106+228055G=) c.801C= (p.Ala267=) c.1105C= (p.Pro369=) | |
3 | g.184372762G>T | CA355461596 | EIF2B5,THPO | c.1233C>A (p.Ala411=) c.813C>A (p.Ala271=) c.796C>A (p.Pro266Thr) c.697C>A (p.Pro233Thr) c.2106+228055G>T (n.2106+228055G>T) c.801C>A (p.Ala267=) c.1105C>A (p.Pro369Thr) | |
3 | g.184372763G>A | CA355461597 | EIF2B5,THPO | c.1232C>T (p.Ala411Val) c.812C>T (p.Ala271Val) c.795C>T (p.Ser265=) c.696C>T (p.Ser232=) c.2106+228056G>A (n.2106+228056G>A) c.800C>T (p.Ala267Val) c.1104C>T (p.Ser368=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372763G>C | CA355461599 | EIF2B5,THPO | c.1232C>G (p.Ala411Gly) c.812C>G (p.Ala271Gly) c.795C>G (p.Ser265Arg) c.696C>G (p.Ser232Arg) c.2106+228056G>C (n.2106+228056G>C) c.800C>G (p.Ala267Gly) c.1104C>G (p.Ser368Arg) | |
3 | g.184372763G= | CA1425997808 | EIF2B5,THPO | c.1232C= (p.Ala411=) c.812C= (p.Ala271=) c.795C= (p.Ser265=) c.696C= (p.Ser232=) c.2106+228056G= (n.2106+228056G=) c.800C= (p.Ala267=) c.1104C= (p.Ser368=) | |
3 | g.184372763G>T | CA355461598 | EIF2B5,THPO | c.1232C>A (p.Ala411Asp) c.812C>A (p.Ala271Asp) c.795C>A (p.Ser265Arg) c.696C>A (p.Ser232Arg) c.2106+228056G>T (n.2106+228056G>T) c.800C>A (p.Ala267Asp) c.1104C>A (p.Ser368Arg) | gnomAD v4 |
3 | g.184372764C>A | CA355461600 | EIF2B5,THPO | c.1231G>T (p.Ala411Ser) c.811G>T (p.Ala271Ser) c.794G>T (p.Ser265Ile) c.695G>T (p.Ser232Ile) c.2106+228057C>A (n.2106+228057C>A) c.799G>T (p.Ala267Ser) c.1103G>T (p.Ser368Ile) | gnomAD v4 |
3 | g.184372764C= | CA1425997809 | EIF2B5,THPO | c.1231G= (p.Ala411=) c.811G= (p.Ala271=) c.794G= (p.Ser265=) c.695G= (p.Ser232=) c.2106+228057C= (n.2106+228057C=) c.799G= (p.Ala267=) c.1103G= (p.Ser368=) | |
3 | g.184372764C>G | CA355461601 | EIF2B5,THPO | c.1231G>C (p.Ala411Pro) c.811G>C (p.Ala271Pro) c.794G>C (p.Ser265Thr) c.695G>C (p.Ser232Thr) c.2106+228057C>G (n.2106+228057C>G) c.799G>C (p.Ala267Pro) c.1103G>C (p.Ser368Thr) | |
3 | g.184372764C>T | CA2734864 | EIF2B5,THPO | c.1231G>A (p.Ala411Thr) c.811G>A (p.Ala271Thr) c.794G>A (p.Ser265Asn) c.695G>A (p.Ser232Asn) c.2106+228057C>T (n.2106+228057C>T) c.799G>A (p.Ala267Thr) c.1103G>A (p.Ser368Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372765_184372766dup | CA2668832988 | EIF2B5,THPO | c.1230_1231dup (p.Ala411GlufsTer?) c.810_811dup (p.Ala271GlufsTer?) c.793_794dup (p.Ser265ArgfsTer?) c.694_695dup (p.Ser232ArgfsTer?) c.2106+228058_2106+228059dup (n.2106+228058_2106+228059dup) c.798_799dup (p.Ala267GlufsTer?) c.1102_1103dup (p.Ser368ArgfsTer?) | gnomAD v4 |
3 | g.184372765_184372766del | CA2668832991 | EIF2B5,THPO | c.1230_1231del (p.Ala411ProfsTer?) c.810_811del (p.Ala271ProfsTer?) c.793_794del (p.Ser265ProfsTer?) c.694_695del (p.Ser232ProfsTer?) c.2106+228058_2106+228059del (n.2106+228058_2106+228059del) c.798_799del (p.Ala267ProfsTer?) c.1102_1103del (p.Ser368ProfsTer?) | gnomAD v4 |
3 | g.184372765T>A | CA355461602 | EIF2B5,THPO | c.1230A>T (p.Gly410=) c.810A>T (p.Gly270=) c.793A>T (p.Ser265Cys) c.694A>T (p.Ser232Cys) c.2106+228058T>A (n.2106+228058T>A) c.798A>T (p.Gly266=) c.1102A>T (p.Ser368Cys) | |
3 | g.184372765T>C | CA355461603 | EIF2B5,THPO | c.1230A>G (p.Gly410=) c.810A>G (p.Gly270=) c.793A>G (p.Ser265Gly) c.694A>G (p.Ser232Gly) c.2106+228058T>C (n.2106+228058T>C) c.798A>G (p.Gly266=) c.1102A>G (p.Ser368Gly) | |
3 | g.184372765T>G | CA355461604 | EIF2B5,THPO | c.1230A>C (p.Gly410=) c.810A>C (p.Gly270=) c.793A>C (p.Ser265Arg) c.694A>C (p.Ser232Arg) c.2106+228058T>G (n.2106+228058T>G) c.798A>C (p.Gly266=) c.1102A>C (p.Ser368Arg) | |
3 | g.184372766C>A | CA355461605 | EIF2B5,THPO | c.1229G>T (p.Gly410Val) c.809G>T (p.Gly270Val) c.792G>T (p.Arg264Ser) c.693G>T (p.Arg231Ser) c.2106+228059C>A (n.2106+228059C>A) c.797G>T (p.Gly266Val) c.1101G>T (p.Arg367Ser) | |
3 | g.184372766C>G | CA355461606 | EIF2B5,THPO | c.1229G>C (p.Gly410Ala) c.809G>C (p.Gly270Ala) c.792G>C (p.Arg264Ser) c.693G>C (p.Arg231Ser) c.2106+228059C>G (n.2106+228059C>G) c.797G>C (p.Gly266Ala) c.1101G>C (p.Arg367Ser) | gnomAD v4 |
3 | g.184372766C>T | CA355461607 | EIF2B5,THPO | c.1229G>A (p.Gly410Glu) c.809G>A (p.Gly270Glu) c.792G>A (p.Arg264=) c.693G>A (p.Arg231=) c.2106+228059C>T (n.2106+228059C>T) c.797G>A (p.Gly266Glu) c.1101G>A (p.Arg367=) | |
3 | g.184372767C>A | CA355461608 | EIF2B5,THPO | c.1228G>T (p.Gly410Ter) c.808G>T (p.Gly270Ter) c.791G>T (p.Arg264Met) c.692G>T (p.Arg231Met) c.2106+228060C>A (n.2106+228060C>A) c.796G>T (p.Gly266Ter) c.1100G>T (p.Arg367Met) | |
3 | g.184372767C= | CA1425997810 | EIF2B5,THPO | c.1228G= (p.Gly410=) c.808G= (p.Gly270=) c.791G= (p.Arg264=) c.692G= (p.Arg231=) c.2106+228060C= (n.2106+228060C=) c.796G= (p.Gly266=) c.1100G= (p.Arg367=) | |
3 | g.184372767C>G | CA355461609 | EIF2B5,THPO | c.1228G>C (p.Gly410Arg) c.808G>C (p.Gly270Arg) c.791G>C (p.Arg264Thr) c.692G>C (p.Arg231Thr) c.2106+228060C>G (n.2106+228060C>G) c.796G>C (p.Gly266Arg) c.1100G>C (p.Arg367Thr) | |
3 | g.184372767C>T | CA2734865 | EIF2B5,THPO | c.1228G>A (p.Gly410Arg) c.808G>A (p.Gly270Arg) c.791G>A (p.Arg264Lys) c.692G>A (p.Arg231Lys) c.2106+228060C>T (n.2106+228060C>T) c.796G>A (p.Gly266Arg) c.1100G>A (p.Arg367Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372768T>A | CA355461611 | EIF2B5,THPO | c.1227A>T (p.Leu409=) c.807A>T (p.Leu269=) c.790A>T (p.Arg264Trp) c.691A>T (p.Arg231Trp) c.2106+228061T>A (n.2106+228061T>A) c.795A>T (p.Leu265=) c.1099A>T (p.Arg367Trp) | |
3 | g.184372768T>C | CA355461610 | EIF2B5,THPO | c.1227A>G (p.Leu409=) c.807A>G (p.Leu269=) c.790A>G (p.Arg264Gly) c.691A>G (p.Arg231Gly) c.2106+228061T>C (n.2106+228061T>C) c.795A>G (p.Leu265=) c.1099A>G (p.Arg367Gly) | |
3 | g.184372768T>G | CA437332626 | EIF2B5,THPO | c.1227A>C (p.Leu409=) c.807A>C (p.Leu269=) c.790A>C (p.Arg264=) c.691A>C (p.Arg231=) c.2106+228061T>G (n.2106+228061T>G) c.795A>C (p.Leu265=) c.1099A>C (p.Arg367=) | |
3 | g.184372769A= | CA1425997811 | EIF2B5,THPO | c.1226T= (p.Leu409=) c.806T= (p.Leu269=) c.789T= (p.Pro263=) c.690T= (p.Pro230=) c.2106+228062A= (n.2106+228062A=) c.794T= (p.Leu265=) c.1098T= (p.Pro366=) | |
3 | g.184372769A>C | CA355461612 | EIF2B5,THPO | c.1226T>G (p.Leu409Arg) c.806T>G (p.Leu269Arg) c.789T>G (p.Pro263=) c.690T>G (p.Pro230=) c.2106+228062A>C (n.2106+228062A>C) c.794T>G (p.Leu265Arg) c.1098T>G (p.Pro366=) | |
3 | g.184372769A>G | CA355461613 | EIF2B5,THPO | c.1226T>C (p.Leu409Pro) c.806T>C (p.Leu269Pro) c.789T>C (p.Pro263=) c.690T>C (p.Pro230=) c.2106+228062A>G (n.2106+228062A>G) c.794T>C (p.Leu265Pro) c.1098T>C (p.Pro366=) | gnomAD v4 |
3 | g.184372769A>T | CA355461614 | EIF2B5,THPO | c.1226T>A (p.Leu409Gln) c.806T>A (p.Leu269Gln) c.789T>A (p.Pro263=) c.690T>A (p.Pro230=) c.2106+228062A>T (n.2106+228062A>T) c.794T>A (p.Leu265Gln) c.1098T>A (p.Pro366=) | |
3 | g.184372770G>A | CA355461615 | EIF2B5,THPO | c.1225C>T (p.Leu409=) c.805C>T (p.Leu269=) c.788C>T (p.Pro263Leu) c.689C>T (p.Pro230Leu) c.2106+228063G>A (n.2106+228063G>A) c.793C>T (p.Leu265=) c.1097C>T (p.Pro366Leu) | |
3 | g.184372770G>C | CA355461616 | EIF2B5,THPO | c.1225C>G (p.Leu409Val) c.805C>G (p.Leu269Val) c.788C>G (p.Pro263Arg) c.689C>G (p.Pro230Arg) c.2106+228063G>C (n.2106+228063G>C) c.793C>G (p.Leu265Val) c.1097C>G (p.Pro366Arg) | dbSNP |
3 | g.184372770G= | CA1425997812 | EIF2B5,THPO | c.1225C= (p.Leu409=) c.805C= (p.Leu269=) c.788C= (p.Pro263=) c.689C= (p.Pro230=) c.2106+228063G= (n.2106+228063G=) c.793C= (p.Leu265=) c.1097C= (p.Pro366=) | |
3 | g.184372770G>T | CA355461617 | EIF2B5,THPO | c.1225C>A (p.Leu409Ile) c.805C>A (p.Leu269Ile) c.788C>A (p.Pro263His) c.689C>A (p.Pro230His) c.2106+228063G>T (n.2106+228063G>T) c.793C>A (p.Leu265Ile) c.1097C>A (p.Pro366His) | |
3 | g.184372772dup | CA915942963 | EIF2B5,THPO | c.1225dup (p.Leu409ProfsTer?) c.805dup (p.Leu269ProfsTer?) c.788dup (p.Arg264Ter) c.689dup (p.Arg231Ter) c.2106+228065dup (n.2106+228065dup) c.793dup (p.Leu265ProfsTer?) c.1097dup (p.Arg367Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.184372771G>A | CA355461618 | EIF2B5,THPO | c.1224C>T (p.Thr408=) c.804C>T (p.Thr268=) c.787C>T (p.Pro263Ser) c.688C>T (p.Pro230Ser) c.2106+228064G>A (n.2106+228064G>A) c.792C>T (p.Thr264=) c.1096C>T (p.Pro366Ser) | |
3 | g.184372771G>C | CA2734867 | EIF2B5,THPO | c.1224C>G (p.Thr408=) c.804C>G (p.Thr268=) c.787C>G (p.Pro263Ala) c.688C>G (p.Pro230Ala) c.2106+228064G>C (n.2106+228064G>C) c.792C>G (p.Thr264=) c.1096C>G (p.Pro366Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372771G= | CA1425997813 | EIF2B5,THPO | c.1224C= (p.Thr408=) c.804C= (p.Thr268=) c.787C= (p.Pro263=) c.688C= (p.Pro230=) c.2106+228064G= (n.2106+228064G=) c.792C= (p.Thr264=) c.1096C= (p.Pro366=) | |
3 | g.184372771G>T | CA2734866 | EIF2B5,THPO | c.1224C>A (p.Thr408=) c.804C>A (p.Thr268=) c.787C>A (p.Pro263Thr) c.688C>A (p.Pro230Thr) c.2106+228064G>T (n.2106+228064G>T) c.792C>A (p.Thr264=) c.1096C>A (p.Pro366Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372772G>A | CA355461619 | EIF2B5,THPO | c.1223C>T (p.Thr408Ile) c.803C>T (p.Thr268Ile) c.786C>T (p.Asp262=) c.687C>T (p.Asp229=) c.2106+228065G>A (n.2106+228065G>A) c.791C>T (p.Thr264Ile) c.1095C>T (p.Asp365=) | COSMIC |
3 | g.184372772G>C | CA355461620 | EIF2B5,THPO | c.1223C>G (p.Thr408Ser) c.803C>G (p.Thr268Ser) c.786C>G (p.Asp262Glu) c.687C>G (p.Asp229Glu) c.2106+228065G>C (n.2106+228065G>C) c.791C>G (p.Thr264Ser) c.1095C>G (p.Asp365Glu) | |
3 | g.184372772G>T | CA355461621 | EIF2B5,THPO | c.1223C>A (p.Thr408Asn) c.803C>A (p.Thr268Asn) c.786C>A (p.Asp262Glu) c.687C>A (p.Asp229Glu) c.2106+228065G>T (n.2106+228065G>T) c.791C>A (p.Thr264Asn) c.1095C>A (p.Asp365Glu) | |
3 | g.184372773T>A | CA355461624 | EIF2B5,THPO | c.1222A>T (p.Thr408Ser) c.802A>T (p.Thr268Ser) c.785A>T (p.Asp262Val) c.686A>T (p.Asp229Val) c.2106+228066T>A (n.2106+228066T>A) c.790A>T (p.Thr264Ser) c.1094A>T (p.Asp365Val) | |
3 | g.184372773T>C | CA355461623 | EIF2B5,THPO | c.1222A>G (p.Thr408Ala) c.802A>G (p.Thr268Ala) c.785A>G (p.Asp262Gly) c.686A>G (p.Asp229Gly) c.2106+228066T>C (n.2106+228066T>C) c.790A>G (p.Thr264Ala) c.1094A>G (p.Asp365Gly) | |
3 | g.184372773T>G | CA355461622 | EIF2B5,THPO | c.1222A>C (p.Thr408Pro) c.802A>C (p.Thr268Pro) c.785A>C (p.Asp262Ala) c.686A>C (p.Asp229Ala) c.2106+228066T>G (n.2106+228066T>G) c.790A>C (p.Thr264Pro) c.1094A>C (p.Asp365Ala) | |
3 | g.184372774C>A | CA355461625 | EIF2B5,THPO | c.1221G>T (p.Arg407Ser) c.801G>T (p.Arg267Ser) c.784G>T (p.Asp262Tyr) c.685G>T (p.Asp229Tyr) c.2106+228067C>A (n.2106+228067C>A) c.789G>T (p.Arg263Ser) c.1093G>T (p.Asp365Tyr) | |
3 | g.184372774C>G | CA355461627 | EIF2B5,THPO | c.1221G>C (p.Arg407Ser) c.801G>C (p.Arg267Ser) c.784G>C (p.Asp262His) c.685G>C (p.Asp229His) c.2106+228067C>G (n.2106+228067C>G) c.789G>C (p.Arg263Ser) c.1093G>C (p.Asp365His) | |
3 | g.184372774C>T | CA355461626 | EIF2B5,THPO | c.1221G>A (p.Arg407=) c.801G>A (p.Arg267=) c.784G>A (p.Asp262Asn) c.685G>A (p.Asp229Asn) c.2106+228067C>T (n.2106+228067C>T) c.789G>A (p.Arg263=) c.1093G>A (p.Asp365Asn) | |
3 | g.184372775C>A | CA355461628 | EIF2B5,THPO | c.1220G>T (p.Arg407Met) c.800G>T (p.Arg267Met) c.783G>T (p.Gln261His) c.684G>T (p.Gln228His) c.2106+228068C>A (n.2106+228068C>A) c.788G>T (p.Arg263Met) c.1092G>T (p.Gln364His) | |
3 | g.184372775C>G | CA355461630 | EIF2B5,THPO | c.1220G>C (p.Arg407Thr) c.800G>C (p.Arg267Thr) c.783G>C (p.Gln261His) c.684G>C (p.Gln228His) c.2106+228068C>G (n.2106+228068C>G) c.788G>C (p.Arg263Thr) c.1092G>C (p.Gln364His) | |
3 | g.184372775C>T | CA355461629 | EIF2B5,THPO | c.1220G>A (p.Arg407Lys) c.800G>A (p.Arg267Lys) c.783G>A (p.Gln261=) c.684G>A (p.Gln228=) c.2106+228068C>T (n.2106+228068C>T) c.788G>A (p.Arg263Lys) c.1092G>A (p.Gln364=) | |
3 | g.184372776T>A | CA355461631 | EIF2B5,THPO | c.1219A>T (p.Arg407Trp) c.799A>T (p.Arg267Trp) c.782A>T (p.Gln261Leu) c.683A>T (p.Gln228Leu) c.2106+228069T>A (n.2106+228069T>A) c.787A>T (p.Arg263Trp) c.1091A>T (p.Gln364Leu) | |
3 | g.184372776T>C | CA355461633 | EIF2B5,THPO | c.1219A>G (p.Arg407Gly) c.799A>G (p.Arg267Gly) c.782A>G (p.Gln261Arg) c.683A>G (p.Gln228Arg) c.2106+228069T>C (n.2106+228069T>C) c.787A>G (p.Arg263Gly) c.1091A>G (p.Gln364Arg) | |
3 | g.184372776T>G | CA355461632 | EIF2B5,THPO | c.1219A>C (p.Arg407=) c.799A>C (p.Arg267=) c.782A>C (p.Gln261Pro) c.683A>C (p.Gln228Pro) c.2106+228069T>G (n.2106+228069T>G) c.787A>C (p.Arg263=) c.1091A>C (p.Gln364Pro) | |
3 | g.184372777G>A | CA355461634 | EIF2B5,THPO | c.1218C>T (p.Arg406=) c.798C>T (p.Arg266=) c.781C>T (p.Gln261Ter) c.682C>T (p.Gln228Ter) c.2106+228070G>A (n.2106+228070G>A) c.786C>T (p.Arg262=) c.1090C>T (p.Gln364Ter) | |
3 | g.184372777G>C | CA355461635 | EIF2B5,THPO | c.1218C>G (p.Arg406=) c.798C>G (p.Arg266=) c.781C>G (p.Gln261Glu) c.682C>G (p.Gln228Glu) c.2106+228070G>C (n.2106+228070G>C) c.786C>G (p.Arg262=) c.1090C>G (p.Gln364Glu) | |
3 | g.184372777G>T | CA355461636 | EIF2B5,THPO | c.1218C>A (p.Arg406=) c.798C>A (p.Arg266=) c.781C>A (p.Gln261Lys) c.682C>A (p.Gln228Lys) c.2106+228070G>T (n.2106+228070G>T) c.786C>A (p.Arg262=) c.1090C>A (p.Gln364Lys) | |
3 | g.184372778C>A | CA355461637 | EIF2B5,THPO | c.1217G>T (p.Arg406Leu) c.797G>T (p.Arg266Leu) c.780G>T (p.Thr260=) c.681G>T (p.Thr227=) c.2106+228071C>A (n.2106+228071C>A) c.785G>T (p.Arg262Leu) c.1089G>T (p.Thr363=) | |
3 | g.184372778C= | CA1425997814 | EIF2B5,THPO | c.1217G= (p.Arg406=) c.797G= (p.Arg266=) c.780G= (p.Thr260=) c.681G= (p.Thr227=) c.2106+228071C= (n.2106+228071C=) c.785G= (p.Arg262=) c.1089G= (p.Thr363=) | |
3 | g.184372778C>G | CA355461638 | EIF2B5,THPO | c.1217G>C (p.Arg406Pro) c.797G>C (p.Arg266Pro) c.780G>C (p.Thr260=) c.681G>C (p.Thr227=) c.2106+228071C>G (n.2106+228071C>G) c.785G>C (p.Arg262Pro) c.1089G>C (p.Thr363=) | |
3 | g.184372778C>T | CA2734868 | EIF2B5,THPO | c.1217G>A (p.Arg406His) c.797G>A (p.Arg266His) c.780G>A (p.Thr260=) c.681G>A (p.Thr227=) c.2106+228071C>T (n.2106+228071C>T) c.785G>A (p.Arg262His) c.1089G>A (p.Thr363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184372779G>A | CA2734869 | EIF2B5,THPO | c.1216C>T (p.Arg406Cys) c.796C>T (p.Arg266Cys) c.779C>T (p.Thr260Met) c.680C>T (p.Thr227Met) c.2106+228072G>A (n.2106+228072G>A) c.784C>T (p.Arg262Cys) c.1088C>T (p.Thr363Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372779G>C | CA355461639 | EIF2B5,THPO | c.1216C>G (p.Arg406Gly) c.796C>G (p.Arg266Gly) c.779C>G (p.Thr260Arg) c.680C>G (p.Thr227Arg) c.2106+228072G>C (n.2106+228072G>C) c.784C>G (p.Arg262Gly) c.1088C>G (p.Thr363Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184372779G= | CA1425997815 | EIF2B5,THPO | c.1216C= (p.Arg406=) c.796C= (p.Arg266=) c.779C= (p.Thr260=) c.680C= (p.Thr227=) c.2106+228072G= (n.2106+228072G=) c.784C= (p.Arg262=) c.1088C= (p.Thr363=) | |
3 | g.184372779G>T | CA355461640 | EIF2B5,THPO | c.1216C>A (p.Arg406Ser) c.796C>A (p.Arg266Ser) c.779C>A (p.Thr260Lys) c.680C>A (p.Thr227Lys) c.2106+228072G>T (n.2106+228072G>T) c.784C>A (p.Arg262Ser) c.1088C>A (p.Thr363Lys) | dbSNP gnomAD v2 |
3 | g.184372780T>A | CA355461643 | EIF2B5,THPO | c.1215A>T (p.Ser405=) c.795A>T (p.Ser265=) c.778A>T (p.Thr260Ser) c.679A>T (p.Thr227Ser) c.2106+228073T>A (n.2106+228073T>A) c.783A>T (p.Ser261=) c.1087A>T (p.Thr363Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372780T>C | CA355461642 | EIF2B5,THPO | c.1215A>G (p.Ser405=) c.795A>G (p.Ser265=) c.778A>G (p.Thr260Ala) c.679A>G (p.Thr227Ala) c.2106+228073T>C (n.2106+228073T>C) c.783A>G (p.Ser261=) c.1087A>G (p.Thr363Ala) | dbSNP |
3 | g.184372780T>G | CA355461641 | EIF2B5,THPO | c.1215A>C (p.Ser405=) c.795A>C (p.Ser265=) c.778A>C (p.Thr260Pro) c.679A>C (p.Thr227Pro) c.2106+228073T>G (n.2106+228073T>G) c.783A>C (p.Ser261=) c.1087A>C (p.Thr363Pro) | |
3 | g.184372780T= | CA1425997817 | EIF2B5,THPO | c.1215A= (p.Ser405=) c.795A= (p.Ser265=) c.778A= (p.Thr260=) c.679A= (p.Thr227=) c.2106+228073T= (n.2106+228073T=) c.783A= (p.Ser261=) c.1087A= (p.Thr363=) | |
3 | g.184372780_184372784delinsTGAGG | CA1425997816 | EIF2B5,THPO | c.1211_1215delinsCCTCA (p.Pro404=) c.791_795delinsCCTCA (p.Pro264=) c.774_778delinsCCTCA (p.Thr258=) c.675_679delinsCCTCA (p.Thr225=) c.2106+228073_2106+228077delinsTGAGG (n.2106+228073_2106+228077delinsTGAGG) c.779_783delinsCCTCA (p.Pro260=) c.1083_1087delinsCCTCA (p.Thr361=) | |
3 | g.184372781G>A | CA355461644 | EIF2B5,THPO | c.1214C>T (p.Ser405Leu) c.794C>T (p.Ser265Leu) c.777C>T (p.Leu259=) c.678C>T (p.Leu226=) c.2106+228074G>A (n.2106+228074G>A) c.782C>T (p.Ser261Leu) c.1086C>T (p.Leu362=) | COSMIC |
3 | g.184372781G>C | CA355461645 | EIF2B5,THPO | c.1214C>G (p.Ser405Ter) c.794C>G (p.Ser265Ter) c.777C>G (p.Leu259=) c.678C>G (p.Leu226=) c.2106+228074G>C (n.2106+228074G>C) c.782C>G (p.Ser261Ter) c.1086C>G (p.Leu362=) | |
3 | g.184372781G>T | CA355461646 | EIF2B5,THPO | c.1214C>A (p.Ser405Ter) c.794C>A (p.Ser265Ter) c.777C>A (p.Leu259=) c.678C>A (p.Leu226=) c.2106+228074G>T (n.2106+228074G>T) c.782C>A (p.Ser261Ter) c.1086C>A (p.Leu362=) | |
3 | g.184372782_184372785del | CA2734870 | EIF2B5,THPO | c.1211_1214del (p.Pro404HisfsTer5) c.791_794del (p.Pro264HisfsTer5) c.774_777del (p.Leu259ArgfsTer?) c.675_678del (p.Leu226ArgfsTer?) c.2106+228075_2106+228078del (n.2106+228075_2106+228078del) c.779_782del (p.Pro260HisfsTer5) c.1083_1086del (p.Leu362ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372782A>C | CA355461647 | EIF2B5,THPO | c.1213T>G (p.Ser405Ala) c.793T>G (p.Ser265Ala) c.776T>G (p.Leu259Arg) c.677T>G (p.Leu226Arg) c.2106+228075A>C (n.2106+228075A>C) c.781T>G (p.Ser261Ala) c.1085T>G (p.Leu362Arg) | |
3 | g.184372782A>G | CA355461648 | EIF2B5,THPO | c.1213T>C (p.Ser405Pro) c.793T>C (p.Ser265Pro) c.776T>C (p.Leu259Pro) c.677T>C (p.Leu226Pro) c.2106+228075A>G (n.2106+228075A>G) c.781T>C (p.Ser261Pro) c.1085T>C (p.Leu362Pro) | |
3 | g.184372782A>T | CA355461649 | EIF2B5,THPO | c.1213T>A (p.Ser405Thr) c.793T>A (p.Ser265Thr) c.776T>A (p.Leu259His) c.677T>A (p.Leu226His) c.2106+228075A>T (n.2106+228075A>T) c.781T>A (p.Ser261Thr) c.1085T>A (p.Leu362His) | |
3 | g.184372782_184372783delinsAG | CA1425997818 | EIF2B5,THPO | c.1212_1213delinsCT (p.Pro404=) c.792_793delinsCT (p.Pro264=) c.775_776delinsCT (p.Leu259=) c.676_677delinsCT (p.Leu226=) c.2106+228075_2106+228076delinsAG (n.2106+228075_2106+228076delinsAG) c.780_781delinsCT (p.Pro260=) c.1084_1085delinsCT (p.Leu362=) | |
3 | g.184372783G>A | CA355461650 | EIF2B5,THPO | c.1212C>T (p.Pro404=) c.792C>T (p.Pro264=) c.775C>T (p.Leu259Phe) c.676C>T (p.Leu226Phe) c.2106+228076G>A (n.2106+228076G>A) c.780C>T (p.Pro260=) c.1084C>T (p.Leu362Phe) | |
3 | g.184372783G>C | CA355461651 | EIF2B5,THPO | c.1212C>G (p.Pro404=) c.792C>G (p.Pro264=) c.775C>G (p.Leu259Val) c.676C>G (p.Leu226Val) c.2106+228076G>C (n.2106+228076G>C) c.780C>G (p.Pro260=) c.1084C>G (p.Leu362Val) | |
3 | g.184372783G>T | CA355461652 | EIF2B5,THPO | c.1212C>A (p.Pro404=) c.792C>A (p.Pro264=) c.775C>A (p.Leu259Ile) c.676C>A (p.Leu226Ile) c.2106+228076G>T (n.2106+228076G>T) c.780C>A (p.Pro260=) c.1084C>A (p.Leu362Ile) | |
3 | g.184372785del | CA548795850 | EIF2B5,THPO | c.1212del (p.Ser405HisfsTer5) c.792del (p.Ser265HisfsTer5) c.775del (p.Leu259SerfsTer?) c.676del (p.Leu226SerfsTer?) c.2106+228078del (n.2106+228078del) c.780del (p.Ser261HisfsTer5) c.1084del (p.Leu362SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372784G>A | CA355461654 | EIF2B5,THPO | c.1211C>T (p.Pro404Leu) c.791C>T (p.Pro264Leu) c.774C>T (p.Thr258=) c.675C>T (p.Thr225=) c.2106+228077G>A (n.2106+228077G>A) c.779C>T (p.Pro260Leu) c.1083C>T (p.Thr361=) | dbSNP COSMIC |
3 | g.184372784G>C | CA355461655 | EIF2B5,THPO | c.1211C>G (p.Pro404Arg) c.791C>G (p.Pro264Arg) c.774C>G (p.Thr258=) c.675C>G (p.Thr225=) c.2106+228077G>C (n.2106+228077G>C) c.779C>G (p.Pro260Arg) c.1083C>G (p.Thr361=) | |
3 | g.184372784G= | CA1425997819 | EIF2B5,THPO | c.1211C= (p.Pro404=) c.791C= (p.Pro264=) c.774C= (p.Thr258=) c.675C= (p.Thr225=) c.2106+228077G= (n.2106+228077G=) c.779C= (p.Pro260=) c.1083C= (p.Thr361=) | |
3 | g.184372784G>T | CA355461653 | EIF2B5,THPO | c.1211C>A (p.Pro404His) c.791C>A (p.Pro264His) c.774C>A (p.Thr258=) c.675C>A (p.Thr225=) c.2106+228077G>T (n.2106+228077G>T) c.779C>A (p.Pro260His) c.1083C>A (p.Thr361=) | |
3 | g.184372785G>A | CA355461656 | EIF2B5,THPO | c.1210C>T (p.Pro404Ser) c.790C>T (p.Pro264Ser) c.773C>T (p.Thr258Ile) c.674C>T (p.Thr225Ile) c.2106+228078G>A (n.2106+228078G>A) c.778C>T (p.Pro260Ser) c.1082C>T (p.Thr361Ile) | |
3 | g.184372785G>C | CA355461657 | EIF2B5,THPO | c.1210C>G (p.Pro404Ala) c.790C>G (p.Pro264Ala) c.773C>G (p.Thr258Ser) c.674C>G (p.Thr225Ser) c.2106+228078G>C (n.2106+228078G>C) c.778C>G (p.Pro260Ala) c.1082C>G (p.Thr361Ser) | |
3 | g.184372785G>T | CA355461658 | EIF2B5,THPO | c.1210C>A (p.Pro404Thr) c.790C>A (p.Pro264Thr) c.773C>A (p.Thr258Asn) c.674C>A (p.Thr225Asn) c.2106+228078G>T (n.2106+228078G>T) c.778C>A (p.Pro260Thr) c.1082C>A (p.Thr361Asn) | |
3 | g.184372786T>A | CA355461659 | EIF2B5,THPO | c.1209A>T (p.Gly403=) c.789A>T (p.Gly263=) c.772A>T (p.Thr258Ser) c.673A>T (p.Thr225Ser) c.2106+228079T>A (n.2106+228079T>A) c.777A>T (p.Gly259=) c.1081A>T (p.Thr361Ser) | COSMIC |
3 | g.184372786T>C | CA355461660 | EIF2B5,THPO | c.1209A>G (p.Gly403=) c.789A>G (p.Gly263=) c.772A>G (p.Thr258Ala) c.673A>G (p.Thr225Ala) c.2106+228079T>C (n.2106+228079T>C) c.777A>G (p.Gly259=) c.1081A>G (p.Thr361Ala) | gnomAD v4 |
3 | g.184372786T>G | CA355461661 | EIF2B5,THPO | c.1209A>C (p.Gly403=) c.789A>C (p.Gly263=) c.772A>C (p.Thr258Pro) c.673A>C (p.Thr225Pro) c.2106+228079T>G (n.2106+228079T>G) c.777A>C (p.Gly259=) c.1081A>C (p.Thr361Pro) | |
3 | g.184372787C>A | CA355461662 | EIF2B5,THPO | c.1208G>T (p.Gly403Val) c.788G>T (p.Gly263Val) c.771G>T (p.Trp257Cys) c.672G>T (p.Trp224Cys) c.2106+228080C>A (n.2106+228080C>A) c.776G>T (p.Gly259Val) c.1080G>T (p.Trp360Cys) | |
3 | g.184372787C= | CA1425997820 | EIF2B5,THPO | c.1208G= (p.Gly403=) c.788G= (p.Gly263=) c.771G= (p.Trp257=) c.672G= (p.Trp224=) c.2106+228080C= (n.2106+228080C=) c.776G= (p.Gly259=) c.1080G= (p.Trp360=) | |
3 | g.184372787C>G | CA355461663 | EIF2B5,THPO | c.1208G>C (p.Gly403Ala) c.788G>C (p.Gly263Ala) c.771G>C (p.Trp257Cys) c.672G>C (p.Trp224Cys) c.2106+228080C>G (n.2106+228080C>G) c.776G>C (p.Gly259Ala) c.1080G>C (p.Trp360Cys) | |
3 | g.184372787C>T | CA355461664 | EIF2B5,THPO | c.1208G>A (p.Gly403Glu) c.788G>A (p.Gly263Glu) c.771G>A (p.Trp257Ter) c.672G>A (p.Trp224Ter) c.2106+228080C>T (n.2106+228080C>T) c.776G>A (p.Gly259Glu) c.1080G>A (p.Trp360Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372788C>A | CA355461665 | EIF2B5,THPO | c.1207G>T (p.Gly403Ter) c.787G>T (p.Gly263Ter) c.770G>T (p.Trp257Leu) c.671G>T (p.Trp224Leu) c.2106+228081C>A (n.2106+228081C>A) c.775G>T (p.Gly259Ter) c.1079G>T (p.Trp360Leu) | |
3 | g.184372788C>G | CA355461666 | EIF2B5,THPO | c.1207G>C (p.Gly403Arg) c.787G>C (p.Gly263Arg) c.770G>C (p.Trp257Ser) c.671G>C (p.Trp224Ser) c.2106+228081C>G (n.2106+228081C>G) c.775G>C (p.Gly259Arg) c.1079G>C (p.Trp360Ser) | |
3 | g.184372788C>T | CA355461667 | EIF2B5,THPO | c.1207G>A (p.Gly403Arg) c.787G>A (p.Gly263Arg) c.770G>A (p.Trp257Ter) c.671G>A (p.Trp224Ter) c.2106+228081C>T (n.2106+228081C>T) c.775G>A (p.Gly259Arg) c.1079G>A (p.Trp360Ter) | |
3 | g.184372789A= | CA1425997821 | EIF2B5,THPO | c.1206T= (p.Pro402=) c.786T= (p.Pro262=) c.769T= (p.Trp257=) c.670T= (p.Trp224=) c.2106+228082A= (n.2106+228082A=) c.774T= (p.Pro258=) c.1078T= (p.Trp360=) | |
3 | g.184372789A>C | CA355461669 | EIF2B5,THPO | c.1206T>G (p.Pro402=) c.786T>G (p.Pro262=) c.769T>G (p.Trp257Gly) c.670T>G (p.Trp224Gly) c.2106+228082A>C (n.2106+228082A>C) c.774T>G (p.Pro258=) c.1078T>G (p.Trp360Gly) | |
3 | g.184372789A>G | CA2734871 | EIF2B5,THPO | c.1206T>C (p.Pro402=) c.786T>C (p.Pro262=) c.769T>C (p.Trp257Arg) c.670T>C (p.Trp224Arg) c.2106+228082A>G (n.2106+228082A>G) c.774T>C (p.Pro258=) c.1078T>C (p.Trp360Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372789A>T | CA355461668 | EIF2B5,THPO | c.1206T>A (p.Pro402=) c.786T>A (p.Pro262=) c.769T>A (p.Trp257Arg) c.670T>A (p.Trp224Arg) c.2106+228082A>T (n.2106+228082A>T) c.774T>A (p.Pro258=) c.1078T>A (p.Trp360Arg) | gnomAD v4 |
3 | g.184372790G>A | CA355461670 | EIF2B5,THPO | c.1205C>T (p.Pro402Leu) c.785C>T (p.Pro262Leu) c.768C>T (p.Ser256=) c.669C>T (p.Ser223=) c.2106+228083G>A (n.2106+228083G>A) c.773C>T (p.Pro258Leu) c.1077C>T (p.Ser359=) | |
3 | g.184372790G>C | CA355461671 | EIF2B5,THPO | c.1205C>G (p.Pro402Arg) c.785C>G (p.Pro262Arg) c.768C>G (p.Ser256=) c.669C>G (p.Ser223=) c.2106+228083G>C (n.2106+228083G>C) c.773C>G (p.Pro258Arg) c.1077C>G (p.Ser359=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184372790G= | CA1425997822 | EIF2B5,THPO | c.1205C= (p.Pro402=) c.785C= (p.Pro262=) c.768C= (p.Ser256=) c.669C= (p.Ser223=) c.2106+228083G= (n.2106+228083G=) c.773C= (p.Pro258=) c.1077C= (p.Ser359=) | |
3 | g.184372790G>T | CA355461672 | EIF2B5,THPO | c.1205C>A (p.Pro402His) c.785C>A (p.Pro262His) c.768C>A (p.Ser256=) c.669C>A (p.Ser223=) c.2106+228083G>T (n.2106+228083G>T) c.773C>A (p.Pro258His) c.1077C>A (p.Ser359=) | gnomAD v4 |
3 | g.184372791G>A | CA355461673 | EIF2B5,THPO | c.1204C>T (p.Pro402Ser) c.784C>T (p.Pro262Ser) c.767C>T (p.Ser256Phe) c.668C>T (p.Ser223Phe) c.2106+228084G>A (n.2106+228084G>A) c.772C>T (p.Pro258Ser) c.1076C>T (p.Ser359Phe) | gnomAD v4 |
3 | g.184372791G>C | CA355461674 | EIF2B5,THPO | c.1204C>G (p.Pro402Ala) c.784C>G (p.Pro262Ala) c.767C>G (p.Ser256Cys) c.668C>G (p.Ser223Cys) c.2106+228084G>C (n.2106+228084G>C) c.772C>G (p.Pro258Ala) c.1076C>G (p.Ser359Cys) | |
3 | g.184372791G>T | CA355461675 | EIF2B5,THPO | c.1204C>A (p.Pro402Thr) c.784C>A (p.Pro262Thr) c.767C>A (p.Ser256Tyr) c.668C>A (p.Ser223Tyr) c.2106+228084G>T (n.2106+228084G>T) c.772C>A (p.Pro258Thr) c.1076C>A (p.Ser359Tyr) | |
3 | g.184372792A>C | CA355461676 | EIF2B5,THPO | c.1203T>G (p.Phe401Leu) c.783T>G (p.Phe261Leu) c.766T>G (p.Ser256Ala) c.667T>G (p.Ser223Ala) c.2106+228085A>C (n.2106+228085A>C) c.771T>G (p.Phe257Leu) c.1075T>G (p.Ser359Ala) | |
3 | g.184372792A>G | CA355461677 | EIF2B5,THPO | c.1203T>C (p.Phe401=) c.783T>C (p.Phe261=) c.766T>C (p.Ser256Pro) c.667T>C (p.Ser223Pro) c.2106+228085A>G (n.2106+228085A>G) c.771T>C (p.Phe257=) c.1075T>C (p.Ser359Pro) | gnomAD v4 |
3 | g.184372792A>T | CA355461678 | EIF2B5,THPO | c.1203T>A (p.Phe401Leu) c.783T>A (p.Phe261Leu) c.766T>A (p.Ser256Thr) c.667T>A (p.Ser223Thr) c.2106+228085A>T (n.2106+228085A>T) c.771T>A (p.Phe257Leu) c.1075T>A (p.Ser359Thr) | |
3 | g.184372793A>C | CA355461679 | EIF2B5,THPO | c.1202T>G (p.Phe401Cys) c.782T>G (p.Phe261Cys) c.765T>G (p.Leu255=) c.666T>G (p.Leu222=) c.2106+228086A>C (n.2106+228086A>C) c.770T>G (p.Phe257Cys) c.1074T>G (p.Leu358=) | |
3 | g.184372793A>G | CA355461680 | EIF2B5,THPO | c.1202T>C (p.Phe401Ser) c.782T>C (p.Phe261Ser) c.765T>C (p.Leu255=) c.666T>C (p.Leu222=) c.2106+228086A>G (n.2106+228086A>G) c.770T>C (p.Phe257Ser) c.1074T>C (p.Leu358=) | |
3 | g.184372793A>T | CA355461681 | EIF2B5,THPO | c.1202T>A (p.Phe401Tyr) c.782T>A (p.Phe261Tyr) c.765T>A (p.Leu255=) c.666T>A (p.Leu222=) c.2106+228086A>T (n.2106+228086A>T) c.770T>A (p.Phe257Tyr) c.1074T>A (p.Leu358=) | |
3 | g.184372794A>C | CA355461683 | EIF2B5,THPO | c.1201T>G (p.Phe401Val) c.781T>G (p.Phe261Val) c.764T>G (p.Leu255Arg) c.665T>G (p.Leu222Arg) c.2106+228087A>C (n.2106+228087A>C) c.769T>G (p.Phe257Val) c.1073T>G (p.Leu358Arg) | |
3 | g.184372794A>G | CA355461684 | EIF2B5,THPO | c.1201T>C (p.Phe401Leu) c.781T>C (p.Phe261Leu) c.764T>C (p.Leu255Pro) c.665T>C (p.Leu222Pro) c.2106+228087A>G (n.2106+228087A>G) c.769T>C (p.Phe257Leu) c.1073T>C (p.Leu358Pro) | |
3 | g.184372794A>T | CA355461682 | EIF2B5,THPO | c.1201T>A (p.Phe401Ile) c.781T>A (p.Phe261Ile) c.764T>A (p.Leu255His) c.665T>A (p.Leu222His) c.2106+228087A>T (n.2106+228087A>T) c.769T>A (p.Phe257Ile) c.1073T>A (p.Leu358His) | |
3 | g.184372795G>A | CA355461687 | EIF2B5,THPO | c.1200C>T (p.Leu400=) c.780C>T (p.Leu260=) c.763C>T (p.Leu255Phe) c.664C>T (p.Leu222Phe) c.2106+228088G>A (n.2106+228088G>A) c.768C>T (p.Leu256=) c.1072C>T (p.Leu358Phe) | |
3 | g.184372795G>C | CA355461685 | EIF2B5,THPO | c.1200C>G (p.Leu400=) c.780C>G (p.Leu260=) c.763C>G (p.Leu255Val) c.664C>G (p.Leu222Val) c.2106+228088G>C (n.2106+228088G>C) c.768C>G (p.Leu256=) c.1072C>G (p.Leu358Val) | |
3 | g.184372795G>T | CA355461686 | EIF2B5,THPO | c.1200C>A (p.Leu400=) c.780C>A (p.Leu260=) c.763C>A (p.Leu255Ile) c.664C>A (p.Leu222Ile) c.2106+228088G>T (n.2106+228088G>T) c.768C>A (p.Leu256=) c.1072C>A (p.Leu358Ile) | |
3 | g.184372796A>C | CA355461688 | EIF2B5,THPO | c.1199T>G (p.Leu400Arg) c.779T>G (p.Leu260Arg) c.762T>G (p.Thr254=) c.663T>G (p.Thr221=) c.2106+228089A>C (n.2106+228089A>C) c.767T>G (p.Leu256Arg) c.1071T>G (p.Thr357=) | |
3 | g.184372796A>G | CA355461689 | EIF2B5,THPO | c.1199T>C (p.Leu400Pro) c.779T>C (p.Leu260Pro) c.762T>C (p.Thr254=) c.663T>C (p.Thr221=) c.2106+228089A>G (n.2106+228089A>G) c.767T>C (p.Leu256Pro) c.1071T>C (p.Thr357=) | |
3 | g.184372796A>T | CA355461690 | EIF2B5,THPO | c.1199T>A (p.Leu400His) c.779T>A (p.Leu260His) c.762T>A (p.Thr254=) c.663T>A (p.Thr221=) c.2106+228089A>T (n.2106+228089A>T) c.767T>A (p.Leu256His) c.1071T>A (p.Thr357=) | |
3 | g.184372797G>A | CA355461691 | EIF2B5,THPO | c.1198C>T (p.Leu400Phe) c.778C>T (p.Leu260Phe) c.761C>T (p.Thr254Ile) c.662C>T (p.Thr221Ile) c.2106+228090G>A (n.2106+228090G>A) c.766C>T (p.Leu256Phe) c.1070C>T (p.Thr357Ile) | |
3 | g.184372797G>C | CA355461692 | EIF2B5,THPO | c.1198C>G (p.Leu400Val) c.778C>G (p.Leu260Val) c.761C>G (p.Thr254Ser) c.662C>G (p.Thr221Ser) c.2106+228090G>C (n.2106+228090G>C) c.766C>G (p.Leu256Val) c.1070C>G (p.Thr357Ser) | gnomAD v4 |
3 | g.184372797G>T | CA355461693 | EIF2B5,THPO | c.1198C>A (p.Leu400Ile) c.778C>A (p.Leu260Ile) c.761C>A (p.Thr254Asn) c.662C>A (p.Thr221Asn) c.2106+228090G>T (n.2106+228090G>T) c.766C>A (p.Leu256Ile) c.1070C>A (p.Thr357Asn) | |
3 | g.184372798T>A | CA355461694 | EIF2B5,THPO | c.1197A>T (p.Gly399=) c.777A>T (p.Gly259=) c.760A>T (p.Thr254Ser) c.661A>T (p.Thr221Ser) c.2106+228091T>A (n.2106+228091T>A) c.765A>T (p.Gly255=) c.1069A>T (p.Thr357Ser) | |
3 | g.184372798T>C | CA355461695 | EIF2B5,THPO | c.1197A>G (p.Gly399=) c.777A>G (p.Gly259=) c.760A>G (p.Thr254Ala) c.661A>G (p.Thr221Ala) c.2106+228091T>C (n.2106+228091T>C) c.765A>G (p.Gly255=) c.1069A>G (p.Thr357Ala) | |
3 | g.184372798T>G | CA355461696 | EIF2B5,THPO | c.1197A>C (p.Gly399=) c.777A>C (p.Gly259=) c.760A>C (p.Thr254Pro) c.661A>C (p.Thr221Pro) c.2106+228091T>G (n.2106+228091T>G) c.765A>C (p.Gly255=) c.1069A>C (p.Thr357Pro) | |
3 | g.184372799C>A | CA355461699 | EIF2B5,THPO | c.1196G>T (p.Gly399Val) c.776G>T (p.Gly259Val) c.759G>T (p.Trp253Cys) c.660G>T (p.Trp220Cys) c.2106+228092C>A (n.2106+228092C>A) c.764G>T (p.Gly255Val) c.1068G>T (p.Trp356Cys) | |
3 | g.184372799C>G | CA355461698 | EIF2B5,THPO | c.1196G>C (p.Gly399Ala) c.776G>C (p.Gly259Ala) c.759G>C (p.Trp253Cys) c.660G>C (p.Trp220Cys) c.2106+228092C>G (n.2106+228092C>G) c.764G>C (p.Gly255Ala) c.1068G>C (p.Trp356Cys) | |
3 | g.184372799C>T | CA355461697 | EIF2B5,THPO | c.1196G>A (p.Gly399Glu) c.776G>A (p.Gly259Glu) c.759G>A (p.Trp253Ter) c.660G>A (p.Trp220Ter) c.2106+228092C>T (n.2106+228092C>T) c.764G>A (p.Gly255Glu) c.1068G>A (p.Trp356Ter) | COSMIC |
3 | g.184372800C>A | CA355461700 | EIF2B5,THPO | c.1195G>T (p.Gly399Ter) c.775G>T (p.Gly259Ter) c.758G>T (p.Trp253Leu) c.659G>T (p.Trp220Leu) c.2106+228093C>A (n.2106+228093C>A) c.763G>T (p.Gly255Ter) c.1067G>T (p.Trp356Leu) | |
3 | g.184372800C>G | CA355461701 | EIF2B5,THPO | c.1195G>C (p.Gly399Arg) c.775G>C (p.Gly259Arg) c.758G>C (p.Trp253Ser) c.659G>C (p.Trp220Ser) c.2106+228093C>G (n.2106+228093C>G) c.763G>C (p.Gly255Arg) c.1067G>C (p.Trp356Ser) | |
3 | g.184372800C>T | CA355461702 | EIF2B5,THPO | c.1195G>A (p.Gly399Arg) c.775G>A (p.Gly259Arg) c.758G>A (p.Trp253Ter) c.659G>A (p.Trp220Ter) c.2106+228093C>T (n.2106+228093C>T) c.763G>A (p.Gly255Arg) c.1067G>A (p.Trp356Ter) | |
3 | g.184372801A= | CA1425997823 | EIF2B5,THPO | c.1194T= (p.Arg398=) c.774T= (p.Arg258=) c.757T= (p.Trp253=) c.658T= (p.Trp220=) c.2106+228094A= (n.2106+228094A=) c.762T= (p.Arg254=) c.1066T= (p.Trp356=) | |
3 | g.184372801A>C | CA355461703 | EIF2B5,THPO | c.1194T>G (p.Arg398=) c.774T>G (p.Arg258=) c.757T>G (p.Trp253Gly) c.658T>G (p.Trp220Gly) c.2106+228094A>C (n.2106+228094A>C) c.762T>G (p.Arg254=) c.1066T>G (p.Trp356Gly) | |
3 | g.184372801A>G | CA355461704 | EIF2B5,THPO | c.1194T>C (p.Arg398=) c.774T>C (p.Arg258=) c.757T>C (p.Trp253Arg) c.658T>C (p.Trp220Arg) c.2106+228094A>G (n.2106+228094A>G) c.762T>C (p.Arg254=) c.1066T>C (p.Trp356Arg) | |
3 | g.184372801A>T | CA2734872 | EIF2B5,THPO | c.1194T>A (p.Arg398=) c.774T>A (p.Arg258=) c.757T>A (p.Trp253Arg) c.658T>A (p.Trp220Arg) c.2106+228094A>T (n.2106+228094A>T) c.762T>A (p.Arg254=) c.1066T>A (p.Trp356Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372802C>A | CA355461705 | EIF2B5,THPO | c.1193G>T (p.Arg398Leu) c.773G>T (p.Arg258Leu) c.756G>T (p.Ser252=) c.657G>T (p.Ser219=) c.2106+228095C>A (n.2106+228095C>A) c.761G>T (p.Arg254Leu) c.1065G>T (p.Ser355=) | |
3 | g.184372802C= | CA1425997824 | EIF2B5,THPO | c.1193G= (p.Arg398=) c.773G= (p.Arg258=) c.756G= (p.Ser252=) c.657G= (p.Ser219=) c.2106+228095C= (n.2106+228095C=) c.761G= (p.Arg254=) c.1065G= (p.Ser355=) | |
3 | g.184372802C>G | CA355461706 | EIF2B5,THPO | c.1193G>C (p.Arg398Pro) c.773G>C (p.Arg258Pro) c.756G>C (p.Ser252=) c.657G>C (p.Ser219=) c.2106+228095C>G (n.2106+228095C>G) c.761G>C (p.Arg254Pro) c.1065G>C (p.Ser355=) | |
3 | g.184372802C>T | CA2734873 | EIF2B5,THPO | c.1193G>A (p.Arg398His) c.773G>A (p.Arg258His) c.756G>A (p.Ser252=) c.657G>A (p.Ser219=) c.2106+228095C>T (n.2106+228095C>T) c.761G>A (p.Arg254His) c.1065G>A (p.Ser355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372803G>A | CA2734874 | EIF2B5,THPO | c.1192C>T (p.Arg398Cys) c.772C>T (p.Arg258Cys) c.755C>T (p.Ser252Leu) c.656C>T (p.Ser219Leu) c.2106+228096G>A (n.2106+228096G>A) c.760C>T (p.Arg254Cys) c.1064C>T (p.Ser355Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372803G>C | CA355461707 | EIF2B5,THPO | c.1192C>G (p.Arg398Gly) c.772C>G (p.Arg258Gly) c.755C>G (p.Ser252Trp) c.656C>G (p.Ser219Trp) c.2106+228096G>C (n.2106+228096G>C) c.760C>G (p.Arg254Gly) c.1064C>G (p.Ser355Trp) | |
3 | g.184372803G= | CA1425997825 | EIF2B5,THPO | c.1192C= (p.Arg398=) c.772C= (p.Arg258=) c.755C= (p.Ser252=) c.656C= (p.Ser219=) c.2106+228096G= (n.2106+228096G=) c.760C= (p.Arg254=) c.1064C= (p.Ser355=) | |
3 | g.184372803G>T | CA355461708 | EIF2B5,THPO | c.1192C>A (p.Arg398Ser) c.772C>A (p.Arg258Ser) c.755C>A (p.Ser252Ter) c.656C>A (p.Ser219Ter) c.2106+228096G>T (n.2106+228096G>T) c.760C>A (p.Arg254Ser) c.1064C>A (p.Ser355Ter) | gnomAD v4 |
3 | g.184372804A>C | CA355461710 | EIF2B5,THPO | c.1191T>G (p.Thr397=) c.771T>G (p.Thr257=) c.754T>G (p.Ser252Ala) c.655T>G (p.Ser219Ala) c.2106+228097A>C (n.2106+228097A>C) c.759T>G (p.Thr253=) c.1063T>G (p.Ser355Ala) | |
3 | g.184372804A>G | CA355461711 | EIF2B5,THPO | c.1191T>C (p.Thr397=) c.771T>C (p.Thr257=) c.754T>C (p.Ser252Pro) c.655T>C (p.Ser219Pro) c.2106+228097A>G (n.2106+228097A>G) c.759T>C (p.Thr253=) c.1063T>C (p.Ser355Pro) | |
3 | g.184372804A>T | CA355461709 | EIF2B5,THPO | c.1191T>A (p.Thr397=) c.771T>A (p.Thr257=) c.754T>A (p.Ser252Thr) c.655T>A (p.Ser219Thr) c.2106+228097A>T (n.2106+228097A>T) c.759T>A (p.Thr253=) c.1063T>A (p.Ser355Thr) | |
3 | g.184372805G>A | CA355461712 | EIF2B5,THPO | c.1190C>T (p.Thr397Ile) c.770C>T (p.Thr257Ile) c.753C>T (p.Asn251=) c.654C>T (p.Asn218=) c.2106+228098G>A (n.2106+228098G>A) c.758C>T (p.Thr253Ile) c.1062C>T (p.Asn354=) | dbSNP gnomAD v4 |
3 | g.184372805G>C | CA355461713 | EIF2B5,THPO | c.1190C>G (p.Thr397Ser) c.770C>G (p.Thr257Ser) c.753C>G (p.Asn251Lys) c.654C>G (p.Asn218Lys) c.2106+228098G>C (n.2106+228098G>C) c.758C>G (p.Thr253Ser) c.1062C>G (p.Asn354Lys) | |
3 | g.184372805G>T | CA355461714 | EIF2B5,THPO | c.1190C>A (p.Thr397Asn) c.770C>A (p.Thr257Asn) c.753C>A (p.Asn251Lys) c.654C>A (p.Asn218Lys) c.2106+228098G>T (n.2106+228098G>T) c.758C>A (p.Thr253Asn) c.1062C>A (p.Asn354Lys) | |
3 | g.184372806T>A | CA355461715 | EIF2B5,THPO | c.1189A>T (p.Thr397Ser) c.769A>T (p.Thr257Ser) c.752A>T (p.Asn251Ile) c.653A>T (p.Asn218Ile) c.2106+228099T>A (n.2106+228099T>A) c.757A>T (p.Thr253Ser) c.1061A>T (p.Asn354Ile) | gnomAD v4 |
3 | g.184372806T>C | CA355461716 | EIF2B5,THPO | c.1189A>G (p.Thr397Ala) c.769A>G (p.Thr257Ala) c.752A>G (p.Asn251Ser) c.653A>G (p.Asn218Ser) c.2106+228099T>C (n.2106+228099T>C) c.757A>G (p.Thr253Ala) c.1061A>G (p.Asn354Ser) | COSMIC |
3 | g.184372806T>G | CA355461717 | EIF2B5,THPO | c.1189A>C (p.Thr397Pro) c.769A>C (p.Thr257Pro) c.752A>C (p.Asn251Thr) c.653A>C (p.Asn218Thr) c.2106+228099T>G (n.2106+228099T>G) c.757A>C (p.Thr253Pro) c.1061A>C (p.Asn354Thr) | |
3 | g.184372807T>A | CA355461718 | EIF2B5,THPO | c.1188A>T (p.Gly396=) c.768A>T (p.Gly256=) c.751A>T (p.Asn251Tyr) c.652A>T (p.Asn218Tyr) c.2106+228100T>A (n.2106+228100T>A) c.756A>T (p.Gly252=) c.1060A>T (p.Asn354Tyr) | dbSNP gnomAD v4 |
3 | g.184372807T>C | CA355461719 | EIF2B5,THPO | c.1188A>G (p.Gly396=) c.768A>G (p.Gly256=) c.751A>G (p.Asn251Asp) c.652A>G (p.Asn218Asp) c.2106+228100T>C (n.2106+228100T>C) c.756A>G (p.Gly252=) c.1060A>G (p.Asn354Asp) | |
3 | g.184372807T>G | CA355461720 | EIF2B5,THPO | c.1188A>C (p.Gly396=) c.768A>C (p.Gly256=) c.751A>C (p.Asn251His) c.652A>C (p.Asn218His) c.2106+228100T>G (n.2106+228100T>G) c.756A>C (p.Gly252=) c.1060A>C (p.Asn354His) | gnomAD v4 |
3 | g.184372808C>A | CA355461721 | EIF2B5,THPO | c.1187G>T (p.Gly396Val) c.767G>T (p.Gly256Val) c.750G>T (p.Trp250Cys) c.651G>T (p.Trp217Cys) c.2106+228101C>A (n.2106+228101C>A) c.755G>T (p.Gly252Val) c.1059G>T (p.Trp353Cys) | COSMIC |
3 | g.184372808C= | CA1425997826 | EIF2B5,THPO | c.1187G= (p.Gly396=) c.767G= (p.Gly256=) c.750G= (p.Trp250=) c.651G= (p.Trp217=) c.2106+228101C= (n.2106+228101C=) c.755G= (p.Gly252=) c.1059G= (p.Trp353=) | |
3 | g.184372808C>G | CA355461722 | EIF2B5,THPO | c.1187G>C (p.Gly396Ala) c.767G>C (p.Gly256Ala) c.750G>C (p.Trp250Cys) c.651G>C (p.Trp217Cys) c.2106+228101C>G (n.2106+228101C>G) c.755G>C (p.Gly252Ala) c.1059G>C (p.Trp353Cys) | dbSNP |
3 | g.184372808C>T | CA355461723 | EIF2B5,THPO | c.1187G>A (p.Gly396Glu) c.767G>A (p.Gly256Glu) c.750G>A (p.Trp250Ter) c.651G>A (p.Trp217Ter) c.2106+228101C>T (n.2106+228101C>T) c.755G>A (p.Gly252Glu) c.1059G>A (p.Trp353Ter) | COSMIC |
3 | g.184372809C>A | CA355461725 | EIF2B5,THPO | c.1186G>T (p.Gly396Ter) c.766G>T (p.Gly256Ter) c.749G>T (p.Trp250Leu) c.650G>T (p.Trp217Leu) c.2106+228102C>A (n.2106+228102C>A) c.754G>T (p.Gly252Ter) c.1058G>T (p.Trp353Leu) | |
3 | g.184372809C= | CA1425997827 | EIF2B5,THPO | c.1186G= (p.Gly396=) c.766G= (p.Gly256=) c.749G= (p.Trp250=) c.650G= (p.Trp217=) c.2106+228102C= (n.2106+228102C=) c.754G= (p.Gly252=) c.1058G= (p.Trp353=) | |
3 | g.184372809C>G | CA355461726 | EIF2B5,THPO | c.1186G>C (p.Gly396Arg) c.766G>C (p.Gly256Arg) c.749G>C (p.Trp250Ser) c.650G>C (p.Trp217Ser) c.2106+228102C>G (n.2106+228102C>G) c.754G>C (p.Gly252Arg) c.1058G>C (p.Trp353Ser) | |
3 | g.184372809C>T | CA355461724 | EIF2B5,THPO | c.1186G>A (p.Gly396Arg) c.766G>A (p.Gly256Arg) c.749G>A (p.Trp250Ter) c.650G>A (p.Trp217Ter) c.2106+228102C>T (n.2106+228102C>T) c.754G>A (p.Gly252Arg) c.1058G>A (p.Trp353Ter) | dbSNP |
3 | g.184372810A= | CA1425997828 | EIF2B5,THPO | c.1185T= (p.Asn395=) c.765T= (p.Asn255=) c.748T= (p.Trp250=) c.649T= (p.Trp217=) c.2106+228103A= (n.2106+228103A=) c.753T= (p.Asn251=) c.1057T= (p.Trp353=) | |
3 | g.184372810A>C | CA355461727 | EIF2B5,THPO | c.1185T>G (p.Asn395Lys) c.765T>G (p.Asn255Lys) c.748T>G (p.Trp250Gly) c.649T>G (p.Trp217Gly) c.2106+228103A>C (n.2106+228103A>C) c.753T>G (p.Asn251Lys) c.1057T>G (p.Trp353Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184372810A>G | CA355461728 | EIF2B5,THPO | c.1185T>C (p.Asn395=) c.765T>C (p.Asn255=) c.748T>C (p.Trp250Arg) c.649T>C (p.Trp217Arg) c.2106+228103A>G (n.2106+228103A>G) c.753T>C (p.Asn251=) c.1057T>C (p.Trp353Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.184372810A>T | CA355461729 | EIF2B5,THPO | c.1185T>A (p.Asn395Lys) c.765T>A (p.Asn255Lys) c.748T>A (p.Trp250Arg) c.649T>A (p.Trp217Arg) c.2106+228103A>T (n.2106+228103A>T) c.753T>A (p.Asn251Lys) c.1057T>A (p.Trp353Arg) | |
3 | g.184372811T>A | CA355461730 | EIF2B5,THPO | c.1184A>T (p.Asn395Ile) c.764A>T (p.Asn255Ile) c.747A>T (p.Glu249Asp) c.648A>T (p.Glu216Asp) c.2106+228104T>A (n.2106+228104T>A) c.752A>T (p.Asn251Ile) c.1056A>T (p.Glu352Asp) | |
3 | g.184372811T>C | CA355461731 | EIF2B5,THPO | c.1184A>G (p.Asn395Ser) c.764A>G (p.Asn255Ser) c.747A>G (p.Glu249=) c.648A>G (p.Glu216=) c.2106+228104T>C (n.2106+228104T>C) c.752A>G (p.Asn251Ser) c.1056A>G (p.Glu352=) | |
3 | g.184372811T>G | CA355461732 | EIF2B5,THPO | c.1184A>C (p.Asn395Thr) c.764A>C (p.Asn255Thr) c.747A>C (p.Glu249Asp) c.648A>C (p.Glu216Asp) c.2106+228104T>G (n.2106+228104T>G) c.752A>C (p.Asn251Thr) c.1056A>C (p.Glu352Asp) | |
3 | g.184372812T>A | CA355461735 | EIF2B5,THPO | c.1183A>T (p.Asn395Tyr) c.763A>T (p.Asn255Tyr) c.746A>T (p.Glu249Val) c.647A>T (p.Glu216Val) c.2106+228105T>A (n.2106+228105T>A) c.751A>T (p.Asn251Tyr) c.1055A>T (p.Glu352Val) | |
3 | g.184372812T>C | CA355461733 | EIF2B5,THPO | c.1183A>G (p.Asn395Asp) c.763A>G (p.Asn255Asp) c.746A>G (p.Glu249Gly) c.647A>G (p.Glu216Gly) c.2106+228105T>C (n.2106+228105T>C) c.751A>G (p.Asn251Asp) c.1055A>G (p.Glu352Gly) | |
3 | g.184372812T>G | CA355461734 | EIF2B5,THPO | c.1183A>C (p.Asn395His) c.763A>C (p.Asn255His) c.746A>C (p.Glu249Ala) c.647A>C (p.Glu216Ala) c.2106+228105T>G (n.2106+228105T>G) c.751A>C (p.Asn251His) c.1055A>C (p.Glu352Ala) | |
3 | g.184372813C>A | CA355461736 | EIF2B5,THPO | c.1182G>T (p.Leu394Phe) c.762G>T (p.Leu254Phe) c.745G>T (p.Glu249Ter) c.646G>T (p.Glu216Ter) c.2106+228106C>A (n.2106+228106C>A) c.750G>T (p.Leu250Phe) c.1054G>T (p.Glu352Ter) | |
3 | g.184372813C>G | CA355461737 | EIF2B5,THPO | c.1182G>C (p.Leu394Phe) c.762G>C (p.Leu254Phe) c.745G>C (p.Glu249Gln) c.646G>C (p.Glu216Gln) c.2106+228106C>G (n.2106+228106C>G) c.750G>C (p.Leu250Phe) c.1054G>C (p.Glu352Gln) | |
3 | g.184372813C>T | CA355461738 | EIF2B5,THPO | c.1182G>A (p.Leu394=) c.762G>A (p.Leu254=) c.745G>A (p.Glu249Lys) c.646G>A (p.Glu216Lys) c.2106+228106C>T (n.2106+228106C>T) c.750G>A (p.Leu250=) c.1054G>A (p.Glu352Lys) | |
3 | g.184372814A= | CA1425997829 | EIF2B5,THPO | c.1181T= (p.Leu394=) c.761T= (p.Leu254=) c.744T= (p.Leu248=) c.645T= (p.Leu215=) c.2106+228107A= (n.2106+228107A=) c.749T= (p.Leu250=) c.1053T= (p.Leu351=) | |
3 | g.184372814A>C | CA355461739 | EIF2B5,THPO | c.1181T>G (p.Leu394Trp) c.761T>G (p.Leu254Trp) c.744T>G (p.Leu248=) c.645T>G (p.Leu215=) c.2106+228107A>C (n.2106+228107A>C) c.749T>G (p.Leu250Trp) c.1053T>G (p.Leu351=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184372814A>G | CA355461740 | EIF2B5,THPO | c.1181T>C (p.Leu394Ser) c.761T>C (p.Leu254Ser) c.744T>C (p.Leu248=) c.645T>C (p.Leu215=) c.2106+228107A>G (n.2106+228107A>G) c.749T>C (p.Leu250Ser) c.1053T>C (p.Leu351=) | |
3 | g.184372814A>T | CA355461741 | EIF2B5,THPO | c.1181T>A (p.Leu394Ter) c.761T>A (p.Leu254Ter) c.744T>A (p.Leu248=) c.645T>A (p.Leu215=) c.2106+228107A>T (n.2106+228107A>T) c.749T>A (p.Leu250Ter) c.1053T>A (p.Leu351=) | |
3 | g.184372815A>C | CA355461744 | EIF2B5,THPO | c.1180T>G (p.Leu394Val) c.760T>G (p.Leu254Val) c.743T>G (p.Leu248Arg) c.644T>G (p.Leu215Arg) c.2106+228108A>C (n.2106+228108A>C) c.748T>G (p.Leu250Val) c.1052T>G (p.Leu351Arg) | |
3 | g.184372815A>G | CA355461743 | EIF2B5,THPO | c.1180T>C (p.Leu394=) c.760T>C (p.Leu254=) c.743T>C (p.Leu248Pro) c.644T>C (p.Leu215Pro) c.2106+228108A>G (n.2106+228108A>G) c.748T>C (p.Leu250=) c.1052T>C (p.Leu351Pro) | |
3 | g.184372815A>T | CA355461742 | EIF2B5,THPO | c.1180T>A (p.Leu394Met) c.760T>A (p.Leu254Met) c.743T>A (p.Leu248His) c.644T>A (p.Leu215His) c.2106+228108A>T (n.2106+228108A>T) c.748T>A (p.Leu250Met) c.1052T>A (p.Leu351His) | |
3 | g.184372816G>A | CA355461746 | EIF2B5,THPO | c.1179C>T (p.Leu393=) c.759C>T (p.Leu253=) c.742C>T (p.Leu248Phe) c.643C>T (p.Leu215Phe) c.2106+228109G>A (n.2106+228109G>A) c.747C>T (p.Leu249=) c.1051C>T (p.Leu351Phe) | |
3 | g.184372816G>C | CA355461745 | EIF2B5,THPO | c.1179C>G (p.Leu393=) c.759C>G (p.Leu253=) c.742C>G (p.Leu248Val) c.643C>G (p.Leu215Val) c.2106+228109G>C (n.2106+228109G>C) c.747C>G (p.Leu249=) c.1051C>G (p.Leu351Val) | |
3 | g.184372816G>T | CA355461747 | EIF2B5,THPO | c.1179C>A (p.Leu393=) c.759C>A (p.Leu253=) c.742C>A (p.Leu248Ile) c.643C>A (p.Leu215Ile) c.2106+228109G>T (n.2106+228109G>T) c.747C>A (p.Leu249=) c.1051C>A (p.Leu351Ile) | |
3 | g.184372817A= | CA1425997830 | EIF2B5,THPO | c.1178T= (p.Leu393=) c.758T= (p.Leu253=) c.741T= (p.Thr247=) c.642T= (p.Thr214=) c.2106+228110A= (n.2106+228110A=) c.746T= (p.Leu249=) c.1050T= (p.Thr350=) | |
3 | g.184372817A>C | CA355461748 | EIF2B5,THPO | c.1178T>G (p.Leu393Arg) c.758T>G (p.Leu253Arg) c.741T>G (p.Thr247=) c.642T>G (p.Thr214=) c.2106+228110A>C (n.2106+228110A>C) c.746T>G (p.Leu249Arg) c.1050T>G (p.Thr350=) | |
3 | g.184372817A>G | CA355461749 | EIF2B5,THPO | c.1178T>C (p.Leu393Pro) c.758T>C (p.Leu253Pro) c.741T>C (p.Thr247=) c.642T>C (p.Thr214=) c.2106+228110A>G (n.2106+228110A>G) c.746T>C (p.Leu249Pro) c.1050T>C (p.Thr350=) | |
3 | g.184372817A>T | CA88912269 | EIF2B5,THPO | c.1178T>A (p.Leu393His) c.758T>A (p.Leu253His) c.741T>A (p.Thr247=) c.642T>A (p.Thr214=) c.2106+228110A>T (n.2106+228110A>T) c.746T>A (p.Leu249His) c.1050T>A (p.Thr350=) | dbSNP |
3 | g.184372818G>A | CA355461750 | EIF2B5,THPO | c.1177C>T (p.Leu393Phe) c.757C>T (p.Leu253Phe) c.740C>T (p.Thr247Ile) c.641C>T (p.Thr214Ile) c.2106+228111G>A (n.2106+228111G>A) c.745C>T (p.Leu249Phe) c.1049C>T (p.Thr350Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184372818G>C | CA355461751 | EIF2B5,THPO | c.1177C>G (p.Leu393Val) c.757C>G (p.Leu253Val) c.740C>G (p.Thr247Ser) c.641C>G (p.Thr214Ser) c.2106+228111G>C (n.2106+228111G>C) c.745C>G (p.Leu249Val) c.1049C>G (p.Thr350Ser) | |
3 | g.184372818G= | CA1425997831 | EIF2B5,THPO | c.1177C= (p.Leu393=) c.757C= (p.Leu253=) c.740C= (p.Thr247=) c.641C= (p.Thr214=) c.2106+228111G= (n.2106+228111G=) c.745C= (p.Leu249=) c.1049C= (p.Thr350=) | |
3 | g.184372818G>T | CA355461752 | EIF2B5,THPO | c.1177C>A (p.Leu393Ile) c.757C>A (p.Leu253Ile) c.740C>A (p.Thr247Asn) c.641C>A (p.Thr214Asn) c.2106+228111G>T (n.2106+228111G>T) c.745C>A (p.Leu249Ile) c.1049C>A (p.Thr350Asn) | |
3 | g.184372819T>A | CA2734875 | EIF2B5,THPO | c.1176A>T (p.Glu392Asp) c.756A>T (p.Glu252Asp) c.739A>T (p.Thr247Ser) c.640A>T (p.Thr214Ser) c.2106+228112T>A (n.2106+228112T>A) c.744A>T (p.Glu248Asp) c.1048A>T (p.Thr350Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372819T>C | CA355461753 | EIF2B5,THPO | c.1176A>G (p.Glu392=) c.756A>G (p.Glu252=) c.739A>G (p.Thr247Ala) c.640A>G (p.Thr214Ala) c.2106+228112T>C (n.2106+228112T>C) c.744A>G (p.Glu248=) c.1048A>G (p.Thr350Ala) | |
3 | g.184372819T>G | CA355461754 | EIF2B5,THPO | c.1176A>C (p.Glu392Asp) c.756A>C (p.Glu252Asp) c.739A>C (p.Thr247Pro) c.640A>C (p.Thr214Pro) c.2106+228112T>G (n.2106+228112T>G) c.744A>C (p.Glu248Asp) c.1048A>C (p.Thr350Pro) | |
3 | g.184372819T= | CA1425997832 | EIF2B5,THPO | c.1176A= (p.Glu392=) c.756A= (p.Glu252=) c.739A= (p.Thr247=) c.640A= (p.Thr214=) c.2106+228112T= (n.2106+228112T=) c.744A= (p.Glu248=) c.1048A= (p.Thr350=) | |
3 | g.184372820T>A | CA355461755 | EIF2B5,THPO | c.1175A>T (p.Glu392Val) c.755A>T (p.Glu252Val) c.738A>T (p.Arg246=) c.639A>T (p.Arg213=) c.2106+228113T>A (n.2106+228113T>A) c.743A>T (p.Glu248Val) c.1047A>T (p.Arg349=) | |
3 | g.184372820T>C | CA355461756 | EIF2B5,THPO | c.1175A>G (p.Glu392Gly) c.755A>G (p.Glu252Gly) c.738A>G (p.Arg246=) c.639A>G (p.Arg213=) c.2106+228113T>C (n.2106+228113T>C) c.743A>G (p.Glu248Gly) c.1047A>G (p.Arg349=) | COSMIC |
3 | g.184372820T>G | CA355461757 | EIF2B5,THPO | c.1175A>C (p.Glu392Ala) c.755A>C (p.Glu252Ala) c.738A>C (p.Arg246=) c.639A>C (p.Arg213=) c.2106+228113T>G (n.2106+228113T>G) c.743A>C (p.Glu248Ala) c.1047A>C (p.Arg349=) | gnomAD v4 |
3 | g.184372821C>A | CA355461759 | EIF2B5,THPO | c.1174G>T (p.Glu392Ter) c.754G>T (p.Glu252Ter) c.737G>T (p.Arg246Leu) c.638G>T (p.Arg213Leu) c.2106+228114C>A (n.2106+228114C>A) c.742G>T (p.Glu248Ter) c.1046G>T (p.Arg349Leu) | |
3 | g.184372821C= | CA1425997833 | EIF2B5,THPO | c.1174G= (p.Glu392=) c.754G= (p.Glu252=) c.737G= (p.Arg246=) c.638G= (p.Arg213=) c.2106+228114C= (n.2106+228114C=) c.742G= (p.Glu248=) c.1046G= (p.Arg349=) | |
3 | g.184372821C>G | CA355461758 | EIF2B5,THPO | c.1174G>C (p.Glu392Gln) c.754G>C (p.Glu252Gln) c.737G>C (p.Arg246Pro) c.638G>C (p.Arg213Pro) c.2106+228114C>G (n.2106+228114C>G) c.742G>C (p.Glu248Gln) c.1046G>C (p.Arg349Pro) | |
3 | g.184372821C>T | CA2734876 | EIF2B5,THPO | c.1174G>A (p.Glu392Lys) c.754G>A (p.Glu252Lys) c.737G>A (p.Arg246Gln) c.638G>A (p.Arg213Gln) c.2106+228114C>T (n.2106+228114C>T) c.742G>A (p.Glu248Lys) c.1046G>A (p.Arg349Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184372822G>A | CA2734877 | EIF2B5,THPO | c.1173C>T (p.His391=) c.753C>T (p.His251=) c.736C>T (p.Arg246Ter) c.637C>T (p.Arg213Ter) c.2106+228115G>A (n.2106+228115G>A) c.741C>T (p.His247=) c.1045C>T (p.Arg349Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372822G>C | CA2734878 | EIF2B5,THPO | c.1173C>G (p.His391Gln) c.753C>G (p.His251Gln) c.736C>G (p.Arg246Gly) c.637C>G (p.Arg213Gly) c.2106+228115G>C (n.2106+228115G>C) c.741C>G (p.His247Gln) c.1045C>G (p.Arg349Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372822G= | CA1425997834 | EIF2B5,THPO | c.1173C= (p.His391=) c.753C= (p.His251=) c.736C= (p.Arg246=) c.637C= (p.Arg213=) c.2106+228115G= (n.2106+228115G=) c.741C= (p.His247=) c.1045C= (p.Arg349=) | |
3 | g.184372822G>T | CA2734879 | EIF2B5,THPO | c.1173C>A (p.His391Gln) c.753C>A (p.His251Gln) c.736C>A (p.Arg246=) c.637C>A (p.Arg213=) c.2106+228115G>T (n.2106+228115G>T) c.741C>A (p.His247Gln) c.1045C>A (p.Arg349=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372823T>A | CA355461760 | EIF2B5,THPO | c.1172A>T (p.His391Leu) c.752A>T (p.His251Leu) c.735A>T (p.Thr245=) c.636A>T (p.Thr212=) c.2106+228116T>A (n.2106+228116T>A) c.740A>T (p.His247Leu) c.1044A>T (p.Thr348=) | |
3 | g.184372823T>C | CA355461761 | EIF2B5,THPO | c.1172A>G (p.His391Arg) c.752A>G (p.His251Arg) c.735A>G (p.Thr245=) c.636A>G (p.Thr212=) c.2106+228116T>C (n.2106+228116T>C) c.740A>G (p.His247Arg) c.1044A>G (p.Thr348=) | |
3 | g.184372823T>G | CA355461762 | EIF2B5,THPO | c.1172A>C (p.His391Pro) c.752A>C (p.His251Pro) c.735A>C (p.Thr245=) c.636A>C (p.Thr212=) c.2106+228116T>G (n.2106+228116T>G) c.740A>C (p.His247Pro) c.1044A>C (p.Thr348=) | |
3 | g.184372824G>A | CA355461763 | EIF2B5,THPO | c.1171C>T (p.His391Tyr) c.751C>T (p.His251Tyr) c.734C>T (p.Thr245Ile) c.635C>T (p.Thr212Ile) c.2106+228117G>A (n.2106+228117G>A) c.739C>T (p.His247Tyr) c.1043C>T (p.Thr348Ile) | |
3 | g.184372824G>C | CA355461764 | EIF2B5,THPO | c.1171C>G (p.His391Asp) c.751C>G (p.His251Asp) c.734C>G (p.Thr245Arg) c.635C>G (p.Thr212Arg) c.2106+228117G>C (n.2106+228117G>C) c.739C>G (p.His247Asp) c.1043C>G (p.Thr348Arg) | |
3 | g.184372824G>T | CA355461765 | EIF2B5,THPO | c.1171C>A (p.His391Asn) c.751C>A (p.His251Asn) c.734C>A (p.Thr245Lys) c.635C>A (p.Thr212Lys) c.2106+228117G>T (n.2106+228117G>T) c.739C>A (p.His247Asn) c.1043C>A (p.Thr348Lys) | |
3 | g.184372825T>A | CA355461766 | EIF2B5,THPO | c.1170A>T (p.Ile390=) c.750A>T (p.Ile250=) c.733A>T (p.Thr245Ser) c.634A>T (p.Thr212Ser) c.2106+228118T>A (n.2106+228118T>A) c.738A>T (p.Ile246=) c.1042A>T (p.Thr348Ser) | |
3 | g.184372825T>C | CA355461767 | EIF2B5,THPO | c.1170A>G (p.Ile390Met) c.750A>G (p.Ile250Met) c.733A>G (p.Thr245Ala) c.634A>G (p.Thr212Ala) c.2106+228118T>C (n.2106+228118T>C) c.738A>G (p.Ile246Met) c.1042A>G (p.Thr348Ala) | |
3 | g.184372825T>G | CA355461768 | EIF2B5,THPO | c.1170A>C (p.Ile390=) c.750A>C (p.Ile250=) c.733A>C (p.Thr245Pro) c.634A>C (p.Thr212Pro) c.2106+228118T>G (n.2106+228118T>G) c.738A>C (p.Ile246=) c.1042A>C (p.Thr348Pro) | |
3 | g.184372826A>C | CA355461771 | EIF2B5,THPO | c.1169T>G (p.Ile390Arg) c.749T>G (p.Ile250Arg) c.732T>G (p.Asp244Glu) c.633T>G (p.Asp211Glu) c.2106+228119A>C (n.2106+228119A>C) c.737T>G (p.Ile246Arg) c.1041T>G (p.Asp347Glu) | |
3 | g.184372826A>G | CA355461770 | EIF2B5,THPO | c.1169T>C (p.Ile390Thr) c.749T>C (p.Ile250Thr) c.732T>C (p.Asp244=) c.633T>C (p.Asp211=) c.2106+228119A>G (n.2106+228119A>G) c.737T>C (p.Ile246Thr) c.1041T>C (p.Asp347=) | |
3 | g.184372826A>T | CA355461769 | EIF2B5,THPO | c.1169T>A (p.Ile390Lys) c.749T>A (p.Ile250Lys) c.732T>A (p.Asp244Glu) c.633T>A (p.Asp211Glu) c.2106+228119A>T (n.2106+228119A>T) c.737T>A (p.Ile246Lys) c.1041T>A (p.Asp347Glu) |