UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45476500_45476508del | CA1047458894 | LARS2 | c.891_899del (p.Ala298_Thr300del) c.*759_*767del (n.*759_*767del) c.762_770del (p.Ala255_Thr257del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476501_45476514delinsGCCTATACGGCCAC | CA1361691366 | LARS2 | c.892_905delinsGCCTATACGGCCAC (p.Ala298=) c.*760_*773delinsGCCTATACGGCCAC (n.*760_*773delinsGCCTATACGGCCAC) c.763_776delinsGCCTATACGGCCAC (p.Ala255=) | |
| 3 | g.45476504_45476516del | CA1361691367 | LARS2 | c.895_907del (p.Tyr299LeufsTer25) c.*763_*775del (n.*763_*775del) c.766_778del (p.Tyr256LeufsTer25) | dbSNP |
| 3 | g.45476508C>A | CA352423622 | LARS2 | c.899C>A (p.Thr300Lys) c.*767C>A (n.*767C>A) c.770C>A (p.Thr257Lys) | gnomAD v4 |
| 3 | g.45476508C= | CA1361691371 | LARS2 | c.899C= (p.Thr300=) c.*767C= (n.*767C=) c.770C= (p.Thr257=) | |
| 3 | g.45476508C>G | CA352423624 | LARS2 | c.899C>G (p.Thr300Arg) c.*767C>G (n.*767C>G) c.770C>G (p.Thr257Arg) | dbSNP |
| 3 | g.45476508C>T | CA278778 | LARS2 | c.899C>T (p.Thr300Met) c.*767C>T (n.*767C>T) c.770C>T (p.Thr257Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45476509G>A | CA73581327 | LARS2 | c.900G>A (p.Thr300=) c.*768G>A (n.*768G>A) c.771G>A (p.Thr257=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45476509G>C | CA433433018 | LARS2 | c.900G>C (p.Thr300=) c.*768G>C (n.*768G>C) c.771G>C (p.Thr257=) | |
| 3 | g.45476509G= | CA1361691372 | LARS2 | c.900G= (p.Thr300=) c.*768G= (n.*768G=) c.771G= (p.Thr257=) | |
| 3 | g.45476509G>T | CA433433019 | LARS2 | c.900G>T (p.Thr300=) c.*768G>T (n.*768G>T) c.771G>T (p.Thr257=) | |
| 3 | g.45476510G>A | CA352423627 | LARS2 | c.901G>A (p.Ala301Thr) c.*769G>A (n.*769G>A) c.772G>A (p.Ala258Thr) | ClinVar gnomAD v4 |
| 3 | g.45476510G>C | CA352423629 | LARS2 | c.901G>C (p.Ala301Pro) c.*769G>C (n.*769G>C) c.772G>C (p.Ala258Pro) | |
| 3 | g.45476510G>T | CA352423630 | LARS2 | c.901G>T (p.Ala301Ser) c.*769G>T (n.*769G>T) c.772G>T (p.Ala258Ser) | COSMIC |
| 3 | g.45476510_45476514delinsGCCAC | CA1361691373 | LARS2 | c.901_905delinsGCCAC (p.Ala301=) c.*769_*773delinsGCCAC (n.*769_*773delinsGCCAC) c.772_776delinsGCCAC (p.Ala258=) | |
| 3 | g.45476511C>A | CA352423632 | LARS2 | c.902C>A (p.Ala301Asp) c.*770C>A (n.*770C>A) c.773C>A (p.Ala258Asp) | |
| 3 | g.45476511C>G | CA352423634 | LARS2 | c.902C>G (p.Ala301Gly) c.*770C>G (n.*770C>G) c.773C>G (p.Ala258Gly) | |
| 3 | g.45476511C>T | CA352423636 | LARS2 | c.902C>T (p.Ala301Val) c.*770C>T (n.*770C>T) c.773C>T (p.Ala258Val) | |
| 3 | g.45476513_45476516del | CA1047458916 | LARS2 | c.904_907del (p.Thr302LeufsTer25) c.*772_*775del (n.*772_*775del) c.775_778del (p.Thr259LeufsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476512C>A | CA433433020 | LARS2 | c.903C>A (p.Ala301=) c.*771C>A (n.*771C>A) c.774C>A (p.Ala258=) | |
| 3 | g.45476512C= | CA1361691374 | LARS2 | c.903C= (p.Ala301=) c.*771C= (n.*771C=) c.774C= (p.Ala258=) | |
| 3 | g.45476512C>G | CA433433021 | LARS2 | c.903C>G (p.Ala301=) c.*771C>G (n.*771C>G) c.774C>G (p.Ala258=) | |
| 3 | g.45476512C>T | CA2349447 | LARS2 | c.903C>T (p.Ala301=) c.*771C>T (n.*771C>T) c.774C>T (p.Ala258=) | dbSNP ExAC gnomAD v2 |
| 3 | g.45476513A>C | CA352423639 | LARS2 | c.904A>C (p.Thr302Pro) c.*772A>C (n.*772A>C) c.775A>C (p.Thr259Pro) | |
| 3 | g.45476513A>G | CA352423640 | LARS2 | c.904A>G (p.Thr302Ala) c.*772A>G (n.*772A>G) c.775A>G (p.Thr259Ala) | |
| 3 | g.45476513A>T | CA352423641 | LARS2 | c.904A>T (p.Thr302Ser) c.*772A>T (n.*772A>T) c.775A>T (p.Thr259Ser) | |
| 3 | g.45476513_45476514delinsAC | CA1361691375 | LARS2 | c.904_905delinsAC (p.Thr302=) c.*772_*773delinsAC (n.*772_*773delinsAC) c.775_776delinsAC (p.Thr259=) | |
| 3 | g.45476514C>A | CA352423645 | LARS2 | c.905C>A (p.Thr302Asn) c.*773C>A (n.*773C>A) c.776C>A (p.Thr259Asn) | |
| 3 | g.45476514C= | CA1361691376 | LARS2 | c.905C= (p.Thr302=) c.*773C= (n.*773C=) c.776C= (p.Thr259=) | |
| 3 | g.45476514C>G | CA352423647 | LARS2 | c.905C>G (p.Thr302Ser) c.*773C>G (n.*773C>G) c.776C>G (p.Thr259Ser) | |
| 3 | g.45476514C>T | CA2349449 | LARS2 | c.905C>T (p.Thr302Ile) c.*773C>T (n.*773C>T) c.776C>T (p.Thr259Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45476517del | CA2349448 | LARS2 | c.908del (p.Pro303LeufsTer25) c.*776del (n.*776del) c.779del (p.Pro260LeufsTer25) | dbSNP ExAC gnomAD v2 |
| 3 | g.45476515C>A | CA433433022 | LARS2 | c.906C>A (p.Thr302=) c.*774C>A (n.*774C>A) c.777C>A (p.Thr259=) | |
| 3 | g.45476515C= | CA1361691377 | LARS2 | c.906C= (p.Thr302=) c.*774C= (n.*774C=) c.777C= (p.Thr259=) | |
| 3 | g.45476515C>G | CA2349450 | LARS2 | c.906C>G (p.Thr302=) c.*774C>G (n.*774C>G) c.777C>G (p.Thr259=) | dbSNP ExAC gnomAD v2 |
| 3 | g.45476515C>T | CA433433023 | LARS2 | c.906C>T (p.Thr302=) c.*774C>T (n.*774C>T) c.777C>T (p.Thr259=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476516C>A | CA352423652 | LARS2 | c.907C>A (p.Pro303Thr) c.*775C>A (n.*775C>A) c.778C>A (p.Pro260Thr) | |
| 3 | g.45476516C>G | CA352423654 | LARS2 | c.907C>G (p.Pro303Ala) c.*775C>G (n.*775C>G) c.778C>G (p.Pro260Ala) | |
| 3 | g.45476516C>T | CA352423655 | LARS2 | c.907C>T (p.Pro303Ser) c.*775C>T (n.*775C>T) c.778C>T (p.Pro260Ser) | |
| 3 | g.45476517C>A | CA352423658 | LARS2 | c.908C>A (p.Pro303His) c.*776C>A (n.*776C>A) c.779C>A (p.Pro260His) | |
| 3 | g.45476517C>G | CA352423661 | LARS2 | c.908C>G (p.Pro303Arg) c.*776C>G (n.*776C>G) c.779C>G (p.Pro260Arg) | |
| 3 | g.45476517C>T | CA352423659 | LARS2 | c.908C>T (p.Pro303Leu) c.*776C>T (n.*776C>T) c.779C>T (p.Pro260Leu) | gnomAD v4 |
| 3 | g.45476517_45476518delinsCT | CA1361691378 | LARS2 | c.908_909delinsCT (p.Pro303=) c.*776_*777delinsCT (n.*776_*777delinsCT) c.779_780delinsCT (p.Pro260=) | |
| 3 | g.45476518del | CA543040663 | LARS2 | c.909del (p.Glu304LysfsTer24) c.*777del (n.*777del) c.780del (p.Glu261LysfsTer24) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45476518T>A | CA433433024 | LARS2 | c.909T>A (p.Pro303=) c.*777T>A (n.*777T>A) c.780T>A (p.Pro260=) | |
| 3 | g.45476518T>C | CA433433025 | LARS2 | c.909T>C (p.Pro303=) c.*777T>C (n.*777T>C) c.780T>C (p.Pro260=) | |
| 3 | g.45476518T>G | CA433433026 | LARS2 | c.909T>G (p.Pro303=) c.*777T>G (n.*777T>G) c.780T>G (p.Pro260=) | |
| 3 | g.45476519G>A | CA352423663 | LARS2 | c.910G>A (p.Glu304Lys) c.*778G>A (n.*778G>A) c.781G>A (p.Glu261Lys) | |
| 3 | g.45476519G>C | CA352423665 | LARS2 | c.910G>C (p.Glu304Gln) c.*778G>C (n.*778G>C) c.781G>C (p.Glu261Gln) | |
| 3 | g.45476519G>T | CA352423666 | LARS2 | c.910G>T (p.Glu304Ter) c.*778G>T (n.*778G>T) c.781G>T (p.Glu261Ter) | |
| 3 | g.45476520A>C | CA352423668 | LARS2 | c.911A>C (p.Glu304Ala) c.*779A>C (n.*779A>C) c.782A>C (p.Glu261Ala) | |
| 3 | g.45476520A>G | CA352423669 | LARS2 | c.911A>G (p.Glu304Gly) c.*779A>G (n.*779A>G) c.782A>G (p.Glu261Gly) | |
| 3 | g.45476520A>T | CA352423670 | LARS2 | c.911A>T (p.Glu304Val) c.*779A>T (n.*779A>T) c.782A>T (p.Glu261Val) | |
| 3 | g.45476521A>C | CA352423672 | LARS2 | c.912A>C (p.Glu304Asp) c.*780A>C (n.*780A>C) c.783A>C (p.Glu261Asp) | |
| 3 | g.45476521A>G | CA433433027 | LARS2 | c.912A>G (p.Glu304=) c.*780A>G (n.*780A>G) c.783A>G (p.Glu261=) | |
| 3 | g.45476521A>T | CA352423673 | LARS2 | c.912A>T (p.Glu304Asp) c.*780A>T (n.*780A>T) c.783A>T (p.Glu261Asp) | |
| 3 | g.45476522G>A | CA352423674 | LARS2 | c.913G>A (p.Ala305Thr) c.*781G>A (n.*781G>A) c.784G>A (p.Ala262Thr) | |
| 3 | g.45476522G>C | CA352423675 | LARS2 | c.913G>C (p.Ala305Pro) c.*781G>C (n.*781G>C) c.784G>C (p.Ala262Pro) | |
| 3 | g.45476522G>T | CA352423677 | LARS2 | c.913G>T (p.Ala305Ser) c.*781G>T (n.*781G>T) c.784G>T (p.Ala262Ser) | |
| 3 | g.45476523C>A | CA352423682 | LARS2 | c.914C>A (p.Ala305Asp) c.*782C>A (n.*782C>A) c.785C>A (p.Ala262Asp) | |
| 3 | g.45476523C>G | CA352423679 | LARS2 | c.914C>G (p.Ala305Gly) c.*782C>G (n.*782C>G) c.785C>G (p.Ala262Gly) | |
| 3 | g.45476523C>T | CA352423681 | LARS2 | c.914C>T (p.Ala305Val) c.*782C>T (n.*782C>T) c.785C>T (p.Ala262Val) | gnomAD v4 |
| 3 | g.45476524C>A | CA433433028 | LARS2 | c.915C>A (p.Ala305=) c.*783C>A (n.*783C>A) c.786C>A (p.Ala262=) | |
| 3 | g.45476524C= | CA1361691379 | LARS2 | c.915C= (p.Ala305=) c.*783C= (n.*783C=) c.786C= (p.Ala262=) | |
| 3 | g.45476524C>G | CA433433029 | LARS2 | c.915C>G (p.Ala305=) c.*783C>G (n.*783C>G) c.786C>G (p.Ala262=) | |
| 3 | g.45476524C>T | CA2349451 | LARS2 | c.915C>T (p.Ala305=) c.*783C>T (n.*783C>T) c.786C>T (p.Ala262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476528_45476529insTCATTT | CA2665386317 | LARS2 | c.919_920insTCATTT (p.Ile306_Tyr307insPheIle) c.*787_*788insTCATTT (n.*787_*788insTCATTT) c.790_791insTCATTT (p.Ile263_Tyr264insPheIle) | gnomAD v4 |
| 3 | g.45476524_45476525insTTATATCCTTGAAGAAA | CA2665386318 | LARS2 | c.915_916insTTATATCCTTGAAGAAA (p.Ile306LeufsTer4) c.*783_*784insTTATATCCTTGAAGAAA (n.*783_*784insTTATATCCTTGAAGAAA) c.786_787insTTATATCCTTGAAGAAA (p.Ile263LeufsTer4) | gnomAD v4 |
| 3 | g.45476525A>C | CA352423685 | LARS2 | c.916A>C (p.Ile306Leu) c.*784A>C (n.*784A>C) c.787A>C (p.Ile263Leu) | |
| 3 | g.45476525A>G | CA352423686 | LARS2 | c.916A>G (p.Ile306Val) c.*784A>G (n.*784A>G) c.787A>G (p.Ile263Val) | |
| 3 | g.45476525A>T | CA352423687 | LARS2 | c.916A>T (p.Ile306Phe) c.*784A>T (n.*784A>T) c.787A>T (p.Ile263Phe) | |
| 3 | g.45476526T>A | CA352423689 | LARS2 | c.917T>A (p.Ile306Asn) c.*785T>A (n.*785T>A) c.788T>A (p.Ile263Asn) | |
| 3 | g.45476526T>C | CA73581373 | LARS2 | c.917T>C (p.Ile306Thr) c.*785T>C (n.*785T>C) c.788T>C (p.Ile263Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476526T>G | CA352423691 | LARS2 | c.917T>G (p.Ile306Ser) c.*785T>G (n.*785T>G) c.788T>G (p.Ile263Ser) | |
| 3 | g.45476526T= | CA1361691380 | LARS2 | c.917T= (p.Ile306=) c.*785T= (n.*785T=) c.788T= (p.Ile263=) | |
| 3 | g.45476527T>A | CA433433030 | LARS2 | c.918T>A (p.Ile306=) c.*786T>A (n.*786T>A) c.789T>A (p.Ile263=) | gnomAD v4 |
| 3 | g.45476527T>C | CA433433031 | LARS2 | c.918T>C (p.Ile306=) c.*786T>C (n.*786T>C) c.789T>C (p.Ile263=) | |
| 3 | g.45476527T>G | CA2349452 | LARS2 | c.918T>G (p.Ile306Met) c.*786T>G (n.*786T>G) c.789T>G (p.Ile263Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.45476527T= | CA1361691381 | LARS2 | c.918T= (p.Ile306=) c.*786T= (n.*786T=) c.789T= (p.Ile263=) | |
| 3 | g.45476528T>A | CA352423694 | LARS2 | c.919T>A (p.Tyr307Asn) c.*787T>A (n.*787T>A) c.790T>A (p.Tyr264Asn) | ClinVar dbSNP |
| 3 | g.45476528T>C | CA352423696 | LARS2 | c.919T>C (p.Tyr307His) c.*787T>C (n.*787T>C) c.790T>C (p.Tyr264His) | gnomAD v4 |
| 3 | g.45476528T>G | CA352423697 | LARS2 | c.919T>G (p.Tyr307Asp) c.*787T>G (n.*787T>G) c.790T>G (p.Tyr264Asp) | |
| 3 | g.45476529A= | CA1361691382 | LARS2 | c.920A= (p.Tyr307=) c.*788A= (n.*788A=) c.791A= (p.Tyr264=) | |
| 3 | g.45476529A>C | CA352423701 | LARS2 | c.920A>C (p.Tyr307Ser) c.*788A>C (n.*788A>C) c.791A>C (p.Tyr264Ser) | |
| 3 | g.45476529A>G | CA352423702 | LARS2 | c.920A>G (p.Tyr307Cys) c.*788A>G (n.*788A>G) c.791A>G (p.Tyr264Cys) | dbSNP gnomAD v4 |
| 3 | g.45476529A>T | CA352423699 | LARS2 | c.920A>T (p.Tyr307Phe) c.*788A>T (n.*788A>T) c.791A>T (p.Tyr264Phe) | |
| 3 | g.45476529_45476530insGCTTCTTTCTCAGAACACAAACACTATAACAC | CA2665386319 | LARS2 | c.920_921insGCTTCTTTCTCAGAACACAAACACTATAACAC (p.Tyr307Ter) c.*788_*789insGCTTCTTTCTCAGAACACAAACACTATAACAC (n.*788_*789insGCTTCTTTCTCAGAACACAAACACTATAACAC) c.791_792insGCTTCTTTCTCAGAACACAAACACTATAACAC (p.Tyr264Ter) | gnomAD v4 |
| 3 | g.45476530T>A | CA2349453 | LARS2 | c.921T>A (p.Tyr307Ter) c.*789T>A (n.*789T>A) c.792T>A (p.Tyr264Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476530T>C | CA433433032 | LARS2 | c.921T>C (p.Tyr307=) c.*789T>C (n.*789T>C) c.792T>C (p.Tyr264=) | |
| 3 | g.45476530T>G | CA352423703 | LARS2 | c.921T>G (p.Tyr307Ter) c.*789T>G (n.*789T>G) c.792T>G (p.Tyr264Ter) | |
| 3 | g.45476530T= | CA1361691383 | LARS2 | c.921T= (p.Tyr307=) c.*789T= (n.*789T=) c.792T= (p.Tyr264=) | |
| 3 | g.45476531G>A | CA352423705 | LARS2 | c.922G>A (p.Gly308Ser) c.*790G>A (n.*790G>A) c.793G>A (p.Gly265Ser) | |
| 3 | g.45476531G>C | CA352423707 | LARS2 | c.922G>C (p.Gly308Arg) c.*790G>C (n.*790G>C) c.793G>C (p.Gly265Arg) | |
| 3 | g.45476531G>T | CA352423709 | LARS2 | c.922G>T (p.Gly308Cys) c.*790G>T (n.*790G>T) c.793G>T (p.Gly265Cys) | |
| 3 | g.45476532G>A | CA352423713 | LARS2 | c.923G>A (p.Gly308Asp) c.*791G>A (n.*791G>A) c.794G>A (p.Gly265Asp) | dbSNP |
| 3 | g.45476532G>C | CA352423711 | LARS2 | c.923G>C (p.Gly308Ala) c.*791G>C (n.*791G>C) c.794G>C (p.Gly265Ala) | |
| 3 | g.45476532G= | CA1361691384 | LARS2 | c.923G= (p.Gly308=) c.*791G= (n.*791G=) c.794G= (p.Gly265=) | |
| 3 | g.45476532G>T | CA352423710 | LARS2 | c.923G>T (p.Gly308Val) c.*791G>T (n.*791G>T) c.794G>T (p.Gly265Val) | |
| 3 | g.45476533C>A | CA433433033 | LARS2 | c.924C>A (p.Gly308=) c.*792C>A (n.*792C>A) c.795C>A (p.Gly265=) | dbSNP |
| 3 | g.45476533C= | CA1361691385 | LARS2 | c.924C= (p.Gly308=) c.*792C= (n.*792C=) c.795C= (p.Gly265=) | |
| 3 | g.45476533C>G | CA433433034 | LARS2 | c.924C>G (p.Gly308=) c.*792C>G (n.*792C>G) c.795C>G (p.Gly265=) | |
| 3 | g.45476533C>T | CA433433035 | LARS2 | c.924C>T (p.Gly308=) c.*792C>T (n.*792C>T) c.795C>T (p.Gly265=) | gnomAD v4 |
| 3 | g.45476534A>C | CA352423715 | LARS2 | c.925A>C (p.Thr309Pro) c.*793A>C (n.*793A>C) c.796A>C (p.Thr266Pro) | |
| 3 | g.45476534A>G | CA352423717 | LARS2 | c.925A>G (p.Thr309Ala) c.*793A>G (n.*793A>G) c.796A>G (p.Thr266Ala) | |
| 3 | g.45476534A>T | CA352423718 | LARS2 | c.925A>T (p.Thr309Ser) c.*793A>T (n.*793A>T) c.796A>T (p.Thr266Ser) | |
| 3 | g.45476535C>A | CA352423720 | LARS2 | c.926C>A (p.Thr309Asn) c.*794C>A (n.*794C>A) c.797C>A (p.Thr266Asn) | |
| 3 | g.45476535C>G | CA352423722 | LARS2 | c.926C>G (p.Thr309Ser) c.*794C>G (n.*794C>G) c.797C>G (p.Thr266Ser) | |
| 3 | g.45476535C>T | CA352423724 | LARS2 | c.926C>T (p.Thr309Ile) c.*794C>T (n.*794C>T) c.797C>T (p.Thr266Ile) | dbSNP |
| 3 | g.45476536C>A | CA433433036 | LARS2 | c.927C>A (p.Thr309=) c.*795C>A (n.*795C>A) c.798C>A (p.Thr266=) | |
| 3 | g.45476536C>G | CA433433037 | LARS2 | c.927C>G (p.Thr309=) c.*795C>G (n.*795C>G) c.798C>G (p.Thr266=) | gnomAD v4 |
| 3 | g.45476536C>T | CA433433038 | LARS2 | c.927C>T (p.Thr309=) c.*795C>T (n.*795C>T) c.798C>T (p.Thr266=) | |
| 3 | g.45476537T>A | CA352423726 | LARS2 | c.928T>A (p.Ser310Thr) c.*796T>A (n.*796T>A) c.799T>A (p.Ser267Thr) | |
| 3 | g.45476537T>C | CA352423729 | LARS2 | c.928T>C (p.Ser310Pro) c.*796T>C (n.*796T>C) c.799T>C (p.Ser267Pro) | |
| 3 | g.45476537T>G | CA352423727 | LARS2 | c.928T>G (p.Ser310Ala) c.*796T>G (n.*796T>G) c.799T>G (p.Ser267Ala) | |
| 3 | g.45476538C>A | CA352423731 | LARS2 | c.929C>A (p.Ser310Tyr) c.*797C>A (n.*797C>A) c.800C>A (p.Ser267Tyr) | |
| 3 | g.45476538C= | CA1361691386 | LARS2 | c.929C= (p.Ser310=) c.*797C= (n.*797C=) c.800C= (p.Ser267=) | |
| 3 | g.45476538C>G | CA73581400 | LARS2 | c.929C>G (p.Ser310Cys) c.*797C>G (n.*797C>G) c.800C>G (p.Ser267Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476538C>T | CA352423733 | LARS2 | c.929C>T (p.Ser310Phe) c.*797C>T (n.*797C>T) c.800C>T (p.Ser267Phe) | gnomAD v4 |
| 3 | g.45476539C>A | CA433433039 | LARS2 | c.930C>A (p.Ser310=) c.*798C>A (n.*798C>A) c.801C>A (p.Ser267=) | |
| 3 | g.45476539C>G | CA433433041 | LARS2 | c.930C>G (p.Ser310=) c.*798C>G (n.*798C>G) c.801C>G (p.Ser267=) | |
| 3 | g.45476539C>T | CA433433040 | LARS2 | c.930C>T (p.Ser310=) c.*798C>T (n.*798C>T) c.801C>T (p.Ser267=) | |
| 3 | g.45476540C>A | CA352423735 | LARS2 | c.931C>A (p.His311Asn) c.*799C>A (n.*799C>A) c.802C>A (p.His268Asn) | gnomAD v4 |
| 3 | g.45476540C= | CA1361691387 | LARS2 | c.931C= (p.His311=) c.*799C= (n.*799C=) c.802C= (p.His268=) | |
| 3 | g.45476540C>G | CA352423737 | LARS2 | c.931C>G (p.His311Asp) c.*799C>G (n.*799C>G) c.802C>G (p.His268Asp) | |
| 3 | g.45476540C>T | CA352423738 | LARS2 | c.931C>T (p.His311Tyr) c.*799C>T (n.*799C>T) c.802C>T (p.His268Tyr) | dbSNP COSMIC |
| 3 | g.45476541A>C | CA352423740 | LARS2 | c.932A>C (p.His311Pro) c.*800A>C (n.*800A>C) c.803A>C (p.His268Pro) | |
| 3 | g.45476541A>G | CA352423742 | LARS2 | c.932A>G (p.His311Arg) c.*800A>G (n.*800A>G) c.803A>G (p.His268Arg) | |
| 3 | g.45476541A>T | CA352423743 | LARS2 | c.932A>T (p.His311Leu) c.*800A>T (n.*800A>T) c.803A>T (p.His268Leu) | gnomAD v4 |
| 3 | g.45476542C>A | CA352423744 | LARS2 | c.933C>A (p.His311Gln) c.*801C>A (n.*801C>A) c.804C>A (p.His268Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45476542C= | CA1361691388 | LARS2 | c.933C= (p.His311=) c.*801C= (n.*801C=) c.804C= (p.His268=) | |
| 3 | g.45476542C>G | CA352423746 | LARS2 | c.933C>G (p.His311Gln) c.*801C>G (n.*801C>G) c.804C>G (p.His268Gln) | |
| 3 | g.45476542C>T | CA2349454 | LARS2 | c.933C>T (p.His311=) c.*801C>T (n.*801C>T) c.804C>T (p.His268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.45476543G>A | CA2349455 | LARS2 | c.934G>A (p.Val312Met) c.*802G>A (n.*802G>A) c.805G>A (p.Val269Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476543G>C | CA73581414 | LARS2 | c.934G>C (p.Val312Leu) c.*802G>C (n.*802G>C) c.805G>C (p.Val269Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476543G= | CA1361691389 | LARS2 | c.934G= (p.Val312=) c.*802G= (n.*802G=) c.805G= (p.Val269=) | |
| 3 | g.45476543G>T | CA352423749 | LARS2 | c.934G>T (p.Val312Leu) c.*802G>T (n.*802G>T) c.805G>T (p.Val269Leu) | dbSNP gnomAD v2 |
| 3 | g.45476544T>A | CA352423752 | LARS2 | c.935T>A (p.Val312Glu) c.*803T>A (n.*803T>A) c.806T>A (p.Val269Glu) | |
| 3 | g.45476544T>C | CA352423753 | LARS2 | c.935T>C (p.Val312Ala) c.*803T>C (n.*803T>C) c.806T>C (p.Val269Ala) | |
| 3 | g.45476544T>G | CA352423755 | LARS2 | c.935T>G (p.Val312Gly) c.*803T>G (n.*803T>G) c.806T>G (p.Val269Gly) | |
| 3 | g.45476545G>A | CA433433042 | LARS2 | c.936G>A (p.Val312=) c.*804G>A (n.*804G>A) c.807G>A (p.Val269=) | |
| 3 | g.45476545G>C | CA433433044 | LARS2 | c.936G>C (p.Val312=) c.*804G>C (n.*804G>C) c.807G>C (p.Val269=) | |
| 3 | g.45476545G>T | CA433433043 | LARS2 | c.936G>T (p.Val312=) c.*804G>T (n.*804G>T) c.807G>T (p.Val269=) | |
| 3 | g.45476546G>A | CA352423757 | LARS2 | c.937G>A (p.Ala313Thr) c.*805G>A (n.*805G>A) c.808G>A (p.Ala270Thr) | |
| 3 | g.45476546G>C | CA352423758 | LARS2 | c.937G>C (p.Ala313Pro) c.*805G>C (n.*805G>C) c.808G>C (p.Ala270Pro) | |
| 3 | g.45476546G>T | CA352423760 | LARS2 | c.937G>T (p.Ala313Ser) c.*805G>T (n.*805G>T) c.808G>T (p.Ala270Ser) | |
| 3 | g.45476547C>A | CA352423762 | LARS2 | c.938C>A (p.Ala313Asp) c.*806C>A (n.*806C>A) c.809C>A (p.Ala270Asp) | |
| 3 | g.45476547C>G | CA352423764 | LARS2 | c.938C>G (p.Ala313Gly) c.*806C>G (n.*806C>G) c.809C>G (p.Ala270Gly) | |
| 3 | g.45476547C>T | CA352423765 | LARS2 | c.938C>T (p.Ala313Val) c.*806C>T (n.*806C>T) c.809C>T (p.Ala270Val) | |
| 3 | g.45476548C>A | CA433433045 | LARS2 | c.939C>A (p.Ala313=) c.*807C>A (n.*807C>A) c.810C>A (p.Ala270=) | |
| 3 | g.45476548C>G | CA433433046 | LARS2 | c.939C>G (p.Ala313=) c.*807C>G (n.*807C>G) c.810C>G (p.Ala270=) | |
| 3 | g.45476548C>T | CA433433047 | LARS2 | c.939C>T (p.Ala313=) c.*807C>T (n.*807C>T) c.810C>T (p.Ala270=) | |
| 3 | g.45476549A>C | CA352423767 | LARS2 | c.940A>C (p.Ile314Leu) c.*808A>C (n.*808A>C) c.811A>C (p.Ile271Leu) | gnomAD v4 |
| 3 | g.45476549A>G | CA352423768 | LARS2 | c.940A>G (p.Ile314Val) c.*808A>G (n.*808A>G) c.811A>G (p.Ile271Val) | |
| 3 | g.45476549A>T | CA352423769 | LARS2 | c.940A>T (p.Ile314Phe) c.*808A>T (n.*808A>T) c.811A>T (p.Ile271Phe) | gnomAD v4 |
| 3 | g.45476550T>A | CA352423774 | LARS2 | c.941T>A (p.Ile314Asn) c.*809T>A (n.*809T>A) c.812T>A (p.Ile271Asn) | |
| 3 | g.45476550T>C | CA352423772 | LARS2 | c.941T>C (p.Ile314Thr) c.*809T>C (n.*809T>C) c.812T>C (p.Ile271Thr) | |
| 3 | g.45476550T>G | CA352423773 | LARS2 | c.941T>G (p.Ile314Ser) c.*809T>G (n.*809T>G) c.812T>G (p.Ile271Ser) | |
| 3 | g.45476551C>A | CA433433048 | LARS2 | c.942C>A (p.Ile314=) c.*810C>A (n.*810C>A) c.813C>A (p.Ile271=) | |
| 3 | g.45476551C>G | CA352423776 | LARS2 | c.942C>G (p.Ile314Met) c.*810C>G (n.*810C>G) c.813C>G (p.Ile271Met) | gnomAD v4 |
| 3 | g.45476551C>T | CA433433049 | LARS2 | c.942C>T (p.Ile314=) c.*810C>T (n.*810C>T) c.813C>T (p.Ile271=) | COSMIC |
| 3 | g.45476552T>A | CA352423778 | LARS2 | c.943T>A (p.Ser315Thr) c.*811T>A (n.*811T>A) c.814T>A (p.Ser272Thr) | |
| 3 | g.45476552T>C | CA2349456 | LARS2 | c.943T>C (p.Ser315Pro) c.*811T>C (n.*811T>C) c.814T>C (p.Ser272Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476552T>G | CA352423779 | LARS2 | c.943T>G (p.Ser315Ala) c.*811T>G (n.*811T>G) c.814T>G (p.Ser272Ala) | |
| 3 | g.45476552T= | CA1361691390 | LARS2 | c.943T= (p.Ser315=) c.*811T= (n.*811T=) c.814T= (p.Ser272=) | |
| 3 | g.45476553C>A | CA352423781 | LARS2 | c.944C>A (p.Ser315Ter) c.*812C>A (n.*812C>A) c.815C>A (p.Ser272Ter) | |
| 3 | g.45476553C= | CA1361691391 | LARS2 | c.944C= (p.Ser315=) c.*812C= (n.*812C=) c.815C= (p.Ser272=) | |
| 3 | g.45476553C>G | CA352423783 | LARS2 | c.944C>G (p.Ser315Trp) c.*812C>G (n.*812C>G) c.815C>G (p.Ser272Trp) | |
| 3 | g.45476553C>T | CA2349457 | LARS2 | c.944C>T (p.Ser315Leu) c.*812C>T (n.*812C>T) c.815C>T (p.Ser272Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45476554G>A | CA2349459 | LARS2 | c.945G>A (p.Ser315=) c.*813G>A (n.*813G>A) c.816G>A (p.Ser272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476554G>C | CA2349458 | LARS2 | c.945G>C (p.Ser315=) c.*813G>C (n.*813G>C) c.816G>C (p.Ser272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476554G= | CA1361691392 | LARS2 | c.945G= (p.Ser315=) c.*813G= (n.*813G=) c.816G= (p.Ser272=) | |
| 3 | g.45476554G>T | CA433433050 | LARS2 | c.945G>T (p.Ser315=) c.*813G>T (n.*813G>T) c.816G>T (p.Ser272=) | dbSNP gnomAD v2 |
| 3 | g.45476555C>A | CA352423787 | LARS2 | c.946C>A (p.Pro316Thr) c.*814C>A (n.*814C>A) c.817C>A (p.Pro273Thr) | |
| 3 | g.45476555C>G | CA352423788 | LARS2 | c.946C>G (p.Pro316Ala) c.*814C>G (n.*814C>G) c.817C>G (p.Pro273Ala) | |
| 3 | g.45476555C>T | CA352423789 | LARS2 | c.946C>T (p.Pro316Ser) c.*814C>T (n.*814C>T) c.817C>T (p.Pro273Ser) | |
| 3 | g.45476556C>A | CA352423791 | LARS2 | c.947C>A (p.Pro316His) c.*815C>A (n.*815C>A) c.818C>A (p.Pro273His) | |
| 3 | g.45476556C= | CA1361691393 | LARS2 | c.947C= (p.Pro316=) c.*815C= (n.*815C=) c.818C= (p.Pro273=) | |
| 3 | g.45476556C>G | CA352423793 | LARS2 | c.947C>G (p.Pro316Arg) c.*815C>G (n.*815C>G) c.818C>G (p.Pro273Arg) | |
| 3 | g.45476556C>T | CA352423790 | LARS2 | c.947C>T (p.Pro316Leu) c.*815C>T (n.*815C>T) c.818C>T (p.Pro273Leu) | dbSNP |
| 3 | g.45476557C>A | CA433433051 | LARS2 | c.948C>A (p.Pro316=) c.*816C>A (n.*816C>A) c.819C>A (p.Pro273=) | |
| 3 | g.45476557C= | CA1361691394 | LARS2 | c.948C= (p.Pro316=) c.*816C= (n.*816C=) c.819C= (p.Pro273=) | |
| 3 | g.45476557C>G | CA433433052 | LARS2 | c.948C>G (p.Pro316=) c.*816C>G (n.*816C>G) c.819C>G (p.Pro273=) | |
| 3 | g.45476557C>T | CA433433053 | LARS2 | c.948C>T (p.Pro316=) c.*816C>T (n.*816C>T) c.819C>T (p.Pro273=) | dbSNP gnomAD v4 |
| 3 | g.45476558A>C | CA352423797 | LARS2 | c.949A>C (p.Ser317Arg) c.*817A>C (n.*817A>C) c.820A>C (p.Ser274Arg) | |
| 3 | g.45476558A>G | CA352423795 | LARS2 | c.949A>G (p.Ser317Gly) c.*817A>G (n.*817A>G) c.820A>G (p.Ser274Gly) | |
| 3 | g.45476558A>T | CA352423798 | LARS2 | c.949A>T (p.Ser317Cys) c.*817A>T (n.*817A>T) c.820A>T (p.Ser274Cys) | |
| 3 | g.45476559G>A | CA352423800 | LARS2 | c.950G>A (p.Ser317Asn) c.*818G>A (n.*818G>A) c.821G>A (p.Ser274Asn) | dbSNP |
| 3 | g.45476559G>C | CA352423801 | LARS2 | c.950G>C (p.Ser317Thr) c.*818G>C (n.*818G>C) c.821G>C (p.Ser274Thr) | |
| 3 | g.45476559G= | CA1361691395 | LARS2 | c.950G= (p.Ser317=) c.*818G= (n.*818G=) c.821G= (p.Ser274=) | |
| 3 | g.45476559G>T | CA352423803 | LARS2 | c.950G>T (p.Ser317Ile) c.*818G>T (n.*818G>T) c.821G>T (p.Ser274Ile) | |
| 3 | g.45476560C>A | CA352423805 | LARS2 | c.951C>A (p.Ser317Arg) c.*819C>A (n.*819C>A) c.822C>A (p.Ser274Arg) | |
| 3 | g.45476560C>G | CA352423806 | LARS2 | c.951C>G (p.Ser317Arg) c.*819C>G (n.*819C>G) c.822C>G (p.Ser274Arg) | |
| 3 | g.45476560C>T | CA433433054 | LARS2 | c.951C>T (p.Ser317=) c.*819C>T (n.*819C>T) c.822C>T (p.Ser274=) | |
| 3 | g.45476561C>A | CA352423808 | LARS2 | c.952C>A (p.His318Asn) c.*820C>A (n.*820C>A) c.823C>A (p.His275Asn) | |
| 3 | g.45476561C>G | CA352423810 | LARS2 | c.952C>G (p.His318Asp) c.*820C>G (n.*820C>G) c.823C>G (p.His275Asp) | |
| 3 | g.45476561C>T | CA352423812 | LARS2 | c.952C>T (p.His318Tyr) c.*820C>T (n.*820C>T) c.823C>T (p.His275Tyr) | |
| 3 | g.45476562A= | CA1361691396 | LARS2 | c.953A= (p.His318=) c.*821A= (n.*821A=) c.824A= (p.His275=) | |
| 3 | g.45476562A>C | CA352423813 | LARS2 | c.953A>C (p.His318Pro) c.*821A>C (n.*821A>C) c.824A>C (p.His275Pro) | |
| 3 | g.45476562A>G | CA2349460 | LARS2 | c.953A>G (p.His318Arg) c.*821A>G (n.*821A>G) c.824A>G (p.His275Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476562A>T | CA352423816 | LARS2 | c.953A>T (p.His318Leu) c.*821A>T (n.*821A>T) c.824A>T (p.His275Leu) | |
| 3 | g.45476563C>A | CA352423817 | LARS2 | c.954C>A (p.His318Gln) c.*822C>A (n.*822C>A) c.825C>A (p.His275Gln) | |
| 3 | g.45476563C>G | CA352423818 | LARS2 | c.954C>G (p.His318Gln) c.*822C>G (n.*822C>G) c.825C>G (p.His275Gln) | |
| 3 | g.45476563C>T | CA433433055 | LARS2 | c.954C>T (p.His318=) c.*822C>T (n.*822C>T) c.825C>T (p.His275=) | |
| 3 | g.45476564A>C | CA433433056 | LARS2 | c.955A>C (p.Arg319=) c.*823A>C (n.*823A>C) c.826A>C (p.Arg276=) | |
| 3 | g.45476564A>G | CA352423819 | LARS2 | c.955A>G (p.Arg319Gly) c.*823A>G (n.*823A>G) c.826A>G (p.Arg276Gly) | |
| 3 | g.45476564A>T | CA352423821 | LARS2 | c.955A>T (p.Arg319Ter) c.*823A>T (n.*823A>T) c.826A>T (p.Arg276Ter) | |
| 3 | g.45476565G>A | CA352423822 | LARS2 | c.956G>A (p.Arg319Lys) c.*824G>A (n.*824G>A) c.827G>A (p.Arg276Lys) | |
| 3 | g.45476565G>C | CA352423824 | LARS2 | c.956G>C (p.Arg319Thr) c.*824G>C (n.*824G>C) c.827G>C (p.Arg276Thr) | |
| 3 | g.45476565G>T | CA352423825 | LARS2 | c.956G>T (p.Arg319Ile) c.*824G>T (n.*824G>T) c.827G>T (p.Arg276Ile) | |
| 3 | g.45476566A>C | CA352423826 | LARS2 | c.957A>C (p.Arg319Ser) c.*825A>C (n.*825A>C) c.828A>C (p.Arg276Ser) | gnomAD v4 |
| 3 | g.45476566A>G | CA433433057 | LARS2 | c.957A>G (p.Arg319=) c.*825A>G (n.*825A>G) c.828A>G (p.Arg276=) | |
| 3 | g.45476566A>T | CA352423828 | LARS2 | c.957A>T (p.Arg319Ser) c.*825A>T (n.*825A>T) c.828A>T (p.Arg276Ser) | |
| 3 | g.45476567C>A | CA352423830 | LARS2 | c.958C>A (p.Leu320Ile) c.*826C>A (n.*826C>A) c.829C>A (p.Leu277Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476567C>G | CA352423832 | LARS2 | c.958C>G (p.Leu320Val) c.*826C>G (n.*826C>G) c.829C>G (p.Leu277Val) | |
| 3 | g.45476567C>T | CA352423833 | LARS2 | c.958C>T (p.Leu320Phe) c.*826C>T (n.*826C>T) c.829C>T (p.Leu277Phe) | |
| 3 | g.45476568T>A | CA352423835 | LARS2 | c.959T>A (p.Leu320His) c.*827T>A (n.*827T>A) c.830T>A (p.Leu277His) | |
| 3 | g.45476568T>C | CA352423837 | LARS2 | c.959T>C (p.Leu320Pro) c.*827T>C (n.*827T>C) c.830T>C (p.Leu277Pro) | |
| 3 | g.45476568T>G | CA352423839 | LARS2 | c.959T>G (p.Leu320Arg) c.*827T>G (n.*827T>G) c.830T>G (p.Leu277Arg) | |
| 3 | g.45476568T= | CA1361691397 | LARS2 | c.959T= (p.Leu320=) c.*827T= (n.*827T=) c.830T= (p.Leu277=) | |
| 3 | g.45476568_45476569insGGGCCATCTCGCCCAGC | CA1361691398 | LARS2 | c.959_960insGGGCCATCTCGCCCAGC (p.Leu321GlyfsTer13) c.*827_*828insGGGCCATCTCGCCCAGC (n.*827_*828insGGGCCATCTCGCCCAGC) c.830_831insGGGCCATCTCGCCCAGC (p.Leu278GlyfsTer13) | dbSNP gnomAD v4 |
| 3 | g.45476569C>A | CA433433058 | LARS2 | c.960C>A (p.Leu320=) c.*828C>A (n.*828C>A) c.831C>A (p.Leu277=) | |
| 3 | g.45476569C= | CA1361691399 | LARS2 | c.960C= (p.Leu320=) c.*828C= (n.*828C=) c.831C= (p.Leu277=) | |
| 3 | g.45476569C>G | CA433433059 | LARS2 | c.960C>G (p.Leu320=) c.*828C>G (n.*828C>G) c.831C>G (p.Leu277=) | |
| 3 | g.45476569C>T | CA2349461 | LARS2 | c.960C>T (p.Leu320=) c.*828C>T (n.*828C>T) c.831C>T (p.Leu277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476570C>A | CA352423842 | LARS2 | c.961C>A (p.Leu321Ile) c.*829C>A (n.*829C>A) c.832C>A (p.Leu278Ile) | |
| 3 | g.45476570C>G | CA352423841 | LARS2 | c.961C>G (p.Leu321Val) c.*829C>G (n.*829C>G) c.832C>G (p.Leu278Val) | |
| 3 | g.45476570C>T | CA433433060 | LARS2 | c.961C>T (p.Leu321=) c.*829C>T (n.*829C>T) c.832C>T (p.Leu278=) | |
| 3 | g.45476571T>A | CA352423844 | LARS2 | c.962T>A (p.Leu321Gln) c.*830T>A (n.*830T>A) c.833T>A (p.Leu278Gln) | |
| 3 | g.45476571T>C | CA352423846 | LARS2 | c.962T>C (p.Leu321Pro) c.*830T>C (n.*830T>C) c.833T>C (p.Leu278Pro) | gnomAD v4 |
| 3 | g.45476571T>G | CA352423847 | LARS2 | c.962T>G (p.Leu321Arg) c.*830T>G (n.*830T>G) c.833T>G (p.Leu278Arg) | |
| 3 | g.45476572A>C | CA433433061 | LARS2 | c.963A>C (p.Leu321=) c.*831A>C (n.*831A>C) c.834A>C (p.Leu278=) | gnomAD v4 |
| 3 | g.45476572A>G | CA433433062 | LARS2 | c.963A>G (p.Leu321=) c.*831A>G (n.*831A>G) c.834A>G (p.Leu278=) | gnomAD v4 |
| 3 | g.45476572A>T | CA433433063 | LARS2 | c.963A>T (p.Leu321=) c.*831A>T (n.*831A>T) c.834A>T (p.Leu278=) | |
| 3 | g.45476573C>A | CA352423849 | LARS2 | c.964C>A (p.His322Asn) c.*832C>A (n.*832C>A) c.835C>A (p.His279Asn) | |
| 3 | g.45476573C>G | CA352423850 | LARS2 | c.964C>G (p.His322Asp) c.*832C>G (n.*832C>G) c.835C>G (p.His279Asp) | |
| 3 | g.45476573C>T | CA352423852 | LARS2 | c.964C>T (p.His322Tyr) c.*832C>T (n.*832C>T) c.835C>T (p.His279Tyr) | gnomAD v4 |
| 3 | g.45476574A= | CA1361691400 | LARS2 | c.965A= (p.His322=) c.*833A= (n.*833A=) c.836A= (p.His279=) | |
| 3 | g.45476574A>C | CA352423856 | LARS2 | c.965A>C (p.His322Pro) c.*833A>C (n.*833A>C) c.836A>C (p.His279Pro) | |
| 3 | g.45476574A>G | CA2349462 | LARS2 | c.965A>G (p.His322Arg) c.*833A>G (n.*833A>G) c.836A>G (p.His279Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476574A>T | CA352423854 | LARS2 | c.965A>T (p.His322Leu) c.*833A>T (n.*833A>T) c.836A>T (p.His279Leu) | |
| 3 | g.45476575T>A | CA352423858 | LARS2 | c.966T>A (p.His322Gln) c.*834T>A (n.*834T>A) c.837T>A (p.His279Gln) | |
| 3 | g.45476575T>C | CA2349463 | LARS2 | c.966T>C (p.His322=) c.*834T>C (n.*834T>C) c.837T>C (p.His279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476575T>G | CA352423860 | LARS2 | c.966T>G (p.His322Gln) c.*834T>G (n.*834T>G) c.837T>G (p.His279Gln) | |
| 3 | g.45476575T= | CA1361691401 | LARS2 | c.966T= (p.His322=) c.*834T= (n.*834T=) c.837T= (p.His279=) | |
| 3 | g.45476576G>A | CA352423862 | LARS2 | c.967G>A (p.Gly323Arg) c.*835G>A (n.*835G>A) c.838G>A (p.Gly280Arg) | dbSNP gnomAD v4 |
| 3 | g.45476576G>C | CA352423863 | LARS2 | c.967G>C (p.Gly323Arg) c.*835G>C (n.*835G>C) c.838G>C (p.Gly280Arg) | |
| 3 | g.45476576G= | CA1361691402 | LARS2 | c.967G= (p.Gly323=) c.*835G= (n.*835G=) c.838G= (p.Gly280=) | |
| 3 | g.45476576G>T | CA352423865 | LARS2 | c.967G>T (p.Gly323Trp) c.*835G>T (n.*835G>T) c.838G>T (p.Gly280Trp) | |
| 3 | g.45476577G>A | CA352423867 | LARS2 | c.968G>A (p.Gly323Glu) c.*836G>A (n.*836G>A) c.839G>A (p.Gly280Glu) | |
| 3 | g.45476577G>C | CA352423870 | LARS2 | c.968G>C (p.Gly323Ala) c.*836G>C (n.*836G>C) c.839G>C (p.Gly280Ala) | |
| 3 | g.45476577G>T | CA352423868 | LARS2 | c.968G>T (p.Gly323Val) c.*836G>T (n.*836G>T) c.839G>T (p.Gly280Val) | |
| 3 | g.45476578G>A | CA433433064 | LARS2 | c.969G>A (p.Gly323=) c.*837G>A (n.*837G>A) c.840G>A (p.Gly280=) | gnomAD v4 |
| 3 | g.45476578G>C | CA433433065 | LARS2 | c.969G>C (p.Gly323=) c.*837G>C (n.*837G>C) c.840G>C (p.Gly280=) | gnomAD v4 |
| 3 | g.45476578G>T | CA433433066 | LARS2 | c.969G>T (p.Gly323=) c.*837G>T (n.*837G>T) c.840G>T (p.Gly280=) | |
| 3 | g.45476579C>A | CA352423872 | LARS2 | c.970C>A (p.His324Asn) c.*838C>A (n.*838C>A) c.841C>A (p.His281Asn) | |
| 3 | g.45476579C>G | CA352423874 | LARS2 | c.970C>G (p.His324Asp) c.*838C>G (n.*838C>G) c.841C>G (p.His281Asp) | |
| 3 | g.45476579C>T | CA352423875 | LARS2 | c.970C>T (p.His324Tyr) c.*838C>T (n.*838C>T) c.841C>T (p.His281Tyr) | |
| 3 | g.45476580A>C | CA352423877 | LARS2 | c.971A>C (p.His324Pro) c.*839A>C (n.*839A>C) c.842A>C (p.His281Pro) | |
| 3 | g.45476580A>G | CA352423879 | LARS2 | c.971A>G (p.His324Arg) c.*839A>G (n.*839A>G) c.842A>G (p.His281Arg) | |
| 3 | g.45476580A>T | CA352423880 | LARS2 | c.971A>T (p.His324Leu) c.*839A>T (n.*839A>T) c.842A>T (p.His281Leu) | |
| 3 | g.45476581C>A | CA2349464 | LARS2 | c.972C>A (p.His324Gln) c.*840C>A (n.*840C>A) c.843C>A (p.His281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476581C= | CA1361691403 | LARS2 | c.972C= (p.His324=) c.*840C= (n.*840C=) c.843C= (p.His281=) | |
| 3 | g.45476581C>G | CA352423882 | LARS2 | c.972C>G (p.His324Gln) c.*840C>G (n.*840C>G) c.843C>G (p.His281Gln) | |
| 3 | g.45476581C>T | CA433433067 | LARS2 | c.972C>T (p.His324=) c.*840C>T (n.*840C>T) c.843C>T (p.His281=) | dbSNP gnomAD v4 |
| 3 | g.45476582del | CA2665386320 | LARS2 | c.973del (p.Ser325AlafsTer3) c.*841del (n.*841del) c.844del (p.Ser282AlafsTer3) | gnomAD v4 |
| 3 | g.45476582A>C | CA352423884 | LARS2 | c.973A>C (p.Ser325Arg) c.*841A>C (n.*841A>C) c.844A>C (p.Ser282Arg) | |
| 3 | g.45476582A>G | CA352423886 | LARS2 | c.973A>G (p.Ser325Gly) c.*841A>G (n.*841A>G) c.844A>G (p.Ser282Gly) | ClinVar |
| 3 | g.45476582A>T | CA352423887 | LARS2 | c.973A>T (p.Ser325Cys) c.*841A>T (n.*841A>T) c.844A>T (p.Ser282Cys) | |
| 3 | g.45476583G>A | CA352423891 | LARS2 | c.974G>A (p.Ser325Asn) c.*842G>A (n.*842G>A) c.845G>A (p.Ser282Asn) | gnomAD v4 |
| 3 | g.45476583G>C | CA352423889 | LARS2 | c.974G>C (p.Ser325Thr) c.*842G>C (n.*842G>C) c.845G>C (p.Ser282Thr) | gnomAD v4 |
| 3 | g.45476583G= | CA1361691404 | LARS2 | c.974G= (p.Ser325=) c.*842G= (n.*842G=) c.845G= (p.Ser282=) | |
| 3 | g.45476583G>T | CA73581478 | LARS2 | c.974G>T (p.Ser325Ile) c.*842G>T (n.*842G>T) c.845G>T (p.Ser282Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476584C>A | CA352423893 | LARS2 | c.975C>A (p.Ser325Arg) c.*843C>A (n.*843C>A) c.846C>A (p.Ser282Arg) | |
| 3 | g.45476584C= | CA1361691405 | LARS2 | c.975C= (p.Ser325=) c.*843C= (n.*843C=) c.846C= (p.Ser282=) | |
| 3 | g.45476584C>G | CA352423895 | LARS2 | c.975C>G (p.Ser325Arg) c.*843C>G (n.*843C>G) c.846C>G (p.Ser282Arg) | |
| 3 | g.45476584C>T | CA73581480 | LARS2 | c.975C>T (p.Ser325=) c.*843C>T (n.*843C>T) c.846C>T (p.Ser282=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45476585T>A | CA352423896 | LARS2 | c.976T>A (p.Ser326Thr) c.*844T>A (n.*844T>A) c.847T>A (p.Ser283Thr) | |
| 3 | g.45476585T>C | CA352423898 | LARS2 | c.976T>C (p.Ser326Pro) c.*844T>C (n.*844T>C) c.847T>C (p.Ser283Pro) | |
| 3 | g.45476585T>G | CA352423900 | LARS2 | c.976T>G (p.Ser326Ala) c.*844T>G (n.*844T>G) c.847T>G (p.Ser283Ala) | |
| 3 | g.45476586C>A | CA2349465 | LARS2 | c.977C>A (p.Ser326Tyr) c.*845C>A (n.*845C>A) c.848C>A (p.Ser283Tyr) | dbSNP ExAC gnomAD v2 |
| 3 | g.45476586C= | CA1361691406 | LARS2 | c.977C= (p.Ser326=) c.*845C= (n.*845C=) c.848C= (p.Ser283=) | |
| 3 | g.45476586C>G | CA352423901 | LARS2 | c.977C>G (p.Ser326Cys) c.*845C>G (n.*845C>G) c.848C>G (p.Ser283Cys) | |
| 3 | g.45476586C>T | CA2349466 | LARS2 | c.977C>T (p.Ser326Phe) c.*845C>T (n.*845C>T) c.848C>T (p.Ser283Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476587T>A | CA433433068 | LARS2 | c.978T>A (p.Ser326=) c.*846T>A (n.*846T>A) c.849T>A (p.Ser283=) | dbSNP |
| 3 | g.45476587T>C | CA433433069 | LARS2 | c.978T>C (p.Ser326=) c.*846T>C (n.*846T>C) c.849T>C (p.Ser283=) | |
| 3 | g.45476587T>G | CA433433070 | LARS2 | c.978T>G (p.Ser326=) c.*846T>G (n.*846T>G) c.849T>G (p.Ser283=) | |
| 3 | g.45476587T= | CA1361691407 | LARS2 | c.978T= (p.Ser326=) c.*846T= (n.*846T=) c.849T= (p.Ser283=) | |
| 3 | g.45476588C>A | CA352423904 | LARS2 | c.979C>A (p.Leu327Met) c.*847C>A (n.*847C>A) c.850C>A (p.Leu284Met) | |
| 3 | g.45476588C>G | CA352423906 | LARS2 | c.979C>G (p.Leu327Val) c.*847C>G (n.*847C>G) c.850C>G (p.Leu284Val) | |
| 3 | g.45476588C>T | CA433433071 | LARS2 | c.979C>T (p.Leu327=) c.*847C>T (n.*847C>T) c.850C>T (p.Leu284=) | gnomAD v4 |
| 3 | g.45476589del | CA2665386321 | LARS2 | c.980del (p.Leu327ArgfsTer5) c.*848del (n.*848del) c.851del (p.Leu284ArgfsTer5) | gnomAD v4 |
| 3 | g.45476589T>A | CA352423908 | LARS2 | c.980T>A (p.Leu327Gln) c.*848T>A (n.*848T>A) c.851T>A (p.Leu284Gln) | |
| 3 | g.45476589T>C | CA352423909 | LARS2 | c.980T>C (p.Leu327Pro) c.*848T>C (n.*848T>C) c.851T>C (p.Leu284Pro) | |
| 3 | g.45476589T>G | CA352423911 | LARS2 | c.980T>G (p.Leu327Arg) c.*848T>G (n.*848T>G) c.851T>G (p.Leu284Arg) | |
| 3 | g.45476590G>A | CA433433072 | LARS2 | c.981G>A (p.Leu327=) c.*849G>A (n.*849G>A) c.852G>A (p.Leu284=) | |
| 3 | g.45476590G>C | CA433433073 | LARS2 | c.981G>C (p.Leu327=) c.*849G>C (n.*849G>C) c.852G>C (p.Leu284=) | |
| 3 | g.45476590G>T | CA433433074 | LARS2 | c.981G>T (p.Leu327=) c.*849G>T (n.*849G>T) c.852G>T (p.Leu284=) | |
| 3 | g.45476591A= | CA1361691408 | LARS2 | c.982A= (p.Lys328=) c.*850A= (n.*850A=) c.853A= (p.Lys285=) | |
| 3 | g.45476591A>C | CA352423915 | LARS2 | c.982A>C (p.Lys328Gln) c.*850A>C (n.*850A>C) c.853A>C (p.Lys285Gln) | |
| 3 | g.45476591A>G | CA73581494 | LARS2 | c.982A>G (p.Lys328Glu) c.*850A>G (n.*850A>G) c.853A>G (p.Lys285Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476591A>T | CA352423914 | LARS2 | c.982A>T (p.Lys328Ter) c.*850A>T (n.*850A>T) c.853A>T (p.Lys285Ter) | |
| 3 | g.45476592A>C | CA352423917 | LARS2 | c.983A>C (p.Lys328Thr) c.*851A>C (n.*851A>C) c.854A>C (p.Lys285Thr) | |
| 3 | g.45476592A>G | CA352423919 | LARS2 | c.983A>G (p.Lys328Arg) c.*851A>G (n.*851A>G) c.854A>G (p.Lys285Arg) | |
| 3 | g.45476592A>T | CA352423921 | LARS2 | c.983A>T (p.Lys328Met) c.*851A>T (n.*851A>T) c.854A>T (p.Lys285Met) | |
| 3 | g.45476593G>A | CA73581499 | LARS2 | c.984G>A (p.Lys328=) c.*852G>A (n.*852G>A) c.855G>A (p.Lys285=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45476593G>C | CA352423922 | LARS2 | c.984G>C (p.Lys328Asn) c.*852G>C (n.*852G>C) c.855G>C (p.Lys285Asn) | |
| 3 | g.45476593G= | CA1361691409 | LARS2 | c.984G= (p.Lys328=) c.*852G= (n.*852G=) c.855G= (p.Lys285=) | |
| 3 | g.45476593G>T | CA352423923 | LARS2 | c.984G>T (p.Lys328Asn) c.*852G>T (n.*852G>T) c.855G>T (p.Lys285Asn) | |
| 3 | g.45476594G>A | CA352423925 | LARS2 | c.985G>A (p.Glu329Lys) c.*853G>A (n.*853G>A) c.856G>A (p.Glu286Lys) | |
| 3 | g.45476594G>C | CA352423927 | LARS2 | c.985G>C (p.Glu329Gln) c.*853G>C (n.*853G>C) c.856G>C (p.Glu286Gln) | |
| 3 | g.45476594G>T | CA352423929 | LARS2 | c.985G>T (p.Glu329Ter) c.*853G>T (n.*853G>T) c.856G>T (p.Glu286Ter) | |
| 3 | g.45476595A>C | CA352423931 | LARS2 | c.986A>C (p.Glu329Ala) c.*854A>C (n.*854A>C) c.857A>C (p.Glu286Ala) | gnomAD v4 |
| 3 | g.45476595A>G | CA352423932 | LARS2 | c.986A>G (p.Glu329Gly) c.*854A>G (n.*854A>G) c.857A>G (p.Glu286Gly) | ClinVar |
| 3 | g.45476595A>T | CA352423934 | LARS2 | c.986A>T (p.Glu329Val) c.*854A>T (n.*854A>T) c.857A>T (p.Glu286Val) | |
| 3 | g.45476596A>C | CA352423936 | LARS2 | c.987A>C (p.Glu329Asp) c.*855A>C (n.*855A>C) c.858A>C (p.Glu286Asp) | |
| 3 | g.45476596A>G | CA433433075 | LARS2 | c.987A>G (p.Glu329=) c.*855A>G (n.*855A>G) c.858A>G (p.Glu286=) | |
| 3 | g.45476596A>T | CA352423937 | LARS2 | c.987A>T (p.Glu329Asp) c.*855A>T (n.*855A>T) c.858A>T (p.Glu286Asp) | |
| 3 | g.45476597G>A | CA352423938 | LARS2 | c.988G>A (p.Ala330Thr) c.*856G>A (n.*856G>A) c.859G>A (p.Ala287Thr) | |
| 3 | g.45476597G>C | CA352423941 | LARS2 | c.988G>C (p.Ala330Pro) c.*856G>C (n.*856G>C) c.859G>C (p.Ala287Pro) | |
| 3 | g.45476597G>T | CA352423940 | LARS2 | c.988G>T (p.Ala330Ser) c.*856G>T (n.*856G>T) c.859G>T (p.Ala287Ser) | |
| 3 | g.45476598C>A | CA352423943 | LARS2 | c.989C>A (p.Ala330Asp) c.*857C>A (n.*857C>A) c.860C>A (p.Ala287Asp) | |
| 3 | g.45476598C= | CA1361691410 | LARS2 | c.989C= (p.Ala330=) c.*857C= (n.*857C=) c.860C= (p.Ala287=) | |
| 3 | g.45476598C>G | CA352423944 | LARS2 | c.989C>G (p.Ala330Gly) c.*857C>G (n.*857C>G) c.860C>G (p.Ala287Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45476598C>T | CA352423946 | LARS2 | c.989C>T (p.Ala330Val) c.*857C>T (n.*857C>T) c.860C>T (p.Ala287Val) | |
| 3 | g.45476599C>A | CA433433076 | LARS2 | c.990C>A (p.Ala330=) c.*858C>A (n.*858C>A) c.861C>A (p.Ala287=) | |
| 3 | g.45476599C>G | CA433433077 | LARS2 | c.990C>G (p.Ala330=) c.*858C>G (n.*858C>G) c.861C>G (p.Ala287=) | |
| 3 | g.45476599C>T | CA433433078 | LARS2 | c.990C>T (p.Ala330=) c.*858C>T (n.*858C>T) c.861C>T (p.Ala287=) | |
| 3 | g.45476600T>A | CA352423948 | LARS2 | c.991T>A (p.Leu331Met) c.*859T>A (n.*859T>A) c.862T>A (p.Leu288Met) | |
| 3 | g.45476600T>C | CA433433079 | LARS2 | c.991T>C (p.Leu331=) c.*859T>C (n.*859T>C) c.862T>C (p.Leu288=) | |
| 3 | g.45476600T>G | CA352423950 | LARS2 | c.991T>G (p.Leu331Val) c.*859T>G (n.*859T>G) c.862T>G (p.Leu288Val) | |
| 3 | g.45476601T>A | CA352423951 | LARS2 | c.992T>A (p.Leu331Ter) c.*860T>A (n.*860T>A) c.863T>A (p.Leu288Ter) | |
| 3 | g.45476601T>C | CA352423952 | LARS2 | c.992T>C (p.Leu331Ser) c.*860T>C (n.*860T>C) c.863T>C (p.Leu288Ser) | |
| 3 | g.45476601T>G | CA352423953 | LARS2 | c.992T>G (p.Leu331Trp) c.*860T>G (n.*860T>G) c.863T>G (p.Leu288Trp) | |
| 3 | g.45476602G>A | CA2349467 | LARS2 | c.993G>A (p.Leu331=) c.*861G>A (n.*861G>A) c.864G>A (p.Leu288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476602G>C | CA352423955 | LARS2 | c.993G>C (p.Leu331Phe) c.*861G>C (n.*861G>C) c.864G>C (p.Leu288Phe) | |
| 3 | g.45476602G= | CA1361691411 | LARS2 | c.993G= (p.Leu331=) c.*861G= (n.*861G=) c.864G= (p.Leu288=) | |
| 3 | g.45476602G>T | CA352423957 | LARS2 | c.993G>T (p.Leu331Phe) c.*861G>T (n.*861G>T) c.864G>T (p.Leu288Phe) | dbSNP |
| 3 | g.45476604_45476606del | CA2665386322 | LARS2 | c.995_997del (p.Arg332del) c.*863_*865del (n.*863_*865del) c.866_868del (p.Arg289del) | gnomAD v4 |
| 3 | g.45476603A= | CA1361691412 | LARS2 | c.994A= (p.Arg332=) c.*862A= (n.*862A=) c.865A= (p.Arg289=) | |
| 3 | g.45476603A>C | CA433433080 | LARS2 | c.994A>C (p.Arg332=) c.*862A>C (n.*862A>C) c.865A>C (p.Arg289=) | |
| 3 | g.45476603A>G | CA352423959 | LARS2 | c.994A>G (p.Arg332Gly) c.*862A>G (n.*862A>G) c.865A>G (p.Arg289Gly) | |
| 3 | g.45476603A>T | CA352423960 | LARS2 | c.994A>T (p.Arg332Trp) c.*862A>T (n.*862A>T) c.865A>T (p.Arg289Trp) | |
| 3 | g.45476604G>A | CA352423965 | LARS2 | c.995G>A (p.Arg332Lys) c.*863G>A (n.*863G>A) c.866G>A (p.Arg289Lys) | |
| 3 | g.45476604G>C | CA352423961 | LARS2 | c.995G>C (p.Arg332Thr) c.*863G>C (n.*863G>C) c.866G>C (p.Arg289Thr) | |
| 3 | g.45476604G>T | CA352423963 | LARS2 | c.995G>T (p.Arg332Met) c.*863G>T (n.*863G>T) c.866G>T (p.Arg289Met) | |
| 3 | g.45476606_45476609dup | CA1361691413 | LARS2 | c.997_1000dup (p.Ala334AspfsTer?) c.*865_*868dup (n.*865_*868dup) c.868_871dup (p.Ala291AspfsTer?) | dbSNP |
| 3 | g.45476605G>A | CA433433081 | LARS2 | c.996G>A (p.Arg332=) c.*864G>A (n.*864G>A) c.867G>A (p.Arg289=) | |
| 3 | g.45476605G>C | CA352423966 | LARS2 | c.996G>C (p.Arg332Ser) c.*864G>C (n.*864G>C) c.867G>C (p.Arg289Ser) | |
| 3 | g.45476605G>T | CA352423968 | LARS2 | c.996G>T (p.Arg332Ser) c.*864G>T (n.*864G>T) c.867G>T (p.Arg289Ser) | COSMIC |
| 3 | g.45476606A= | CA1361691414 | LARS2 | c.997A= (p.Met333=) c.*865A= (n.*865A=) c.868A= (p.Met290=) | |
| 3 | g.45476606A>C | CA352423969 | LARS2 | c.997A>C (p.Met333Leu) c.*865A>C (n.*865A>C) c.868A>C (p.Met290Leu) | |
| 3 | g.45476606A>G | CA2349468 | LARS2 | c.997A>G (p.Met333Val) c.*865A>G (n.*865A>G) c.868A>G (p.Met290Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45476606A>T | CA352423970 | LARS2 | c.997A>T (p.Met333Leu) c.*865A>T (n.*865A>T) c.868A>T (p.Met290Leu) | |
| 3 | g.45476607T>A | CA352423971 | LARS2 | c.998T>A (p.Met333Lys) c.*866T>A (n.*866T>A) c.869T>A (p.Met290Lys) | |
| 3 | g.45476607T>C | CA352423973 | LARS2 | c.998T>C (p.Met333Thr) c.*866T>C (n.*866T>C) c.869T>C (p.Met290Thr) | |
| 3 | g.45476607T>G | CA352423975 | LARS2 | c.998T>G (p.Met333Arg) c.*866T>G (n.*866T>G) c.869T>G (p.Met290Arg) | |
| 3 | g.45476608G>A | CA352423977 | LARS2 | c.999G>A (p.Met333Ile) c.*867G>A (n.*867G>A) c.870G>A (p.Met290Ile) | |
| 3 | g.45476608G>C | CA352423978 | LARS2 | c.999G>C (p.Met333Ile) c.*867G>C (n.*867G>C) c.870G>C (p.Met290Ile) | gnomAD v4 |
| 3 | g.45476608G>T | CA352423979 | LARS2 | c.999G>T (p.Met333Ile) c.*867G>T (n.*867G>T) c.870G>T (p.Met290Ile) |