Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.45496239A>G | CA2665387288 | LARS2,LARS2-AS1 | c.1524-36A>G (n.1524-36A>G) c.*1392-36A>G (n.*1392-36A>G) c.1395-36A>G (n.1395-36A>G) n.261-739T>C | gnomAD v4 |
3 | g.45496241A>G | CA2577571171 | LARS2,LARS2-AS1 | c.1524-34A>G (n.1524-34A>G) c.*1392-34A>G (n.*1392-34A>G) c.1395-34A>G (n.1395-34A>G) n.261-741T>C | |
3 | g.45496242G= | CA1361699529 | LARS2,LARS2-AS1 | c.1524-33G= (n.1524-33G=) c.*1392-33G= (n.*1392-33G=) c.1395-33G= (n.1395-33G=) n.261-742C= | |
3 | g.45496242G>T | CA1361699530 | LARS2,LARS2-AS1 | c.1524-33G>T (n.1524-33G>T) c.*1392-33G>T (n.*1392-33G>T) c.1395-33G>T (n.1395-33G>T) n.261-742C>A | dbSNP |
3 | g.45496245A>T | CA2665387289 | LARS2,LARS2-AS1 | c.1524-30A>T (n.1524-30A>T) c.*1392-30A>T (n.*1392-30A>T) c.1395-30A>T (n.1395-30A>T) n.261-745T>A | gnomAD v4 |
3 | g.45496246C>A | CA2665387290 | LARS2,LARS2-AS1 | c.1524-29C>A (n.1524-29C>A) c.*1392-29C>A (n.*1392-29C>A) c.1395-29C>A (n.1395-29C>A) n.261-746G>T | gnomAD v4 |
3 | g.45496247C>A | CA2577571172 | LARS2,LARS2-AS1 | c.1524-28C>A (n.1524-28C>A) c.*1392-28C>A (n.*1392-28C>A) c.1395-28C>A (n.1395-28C>A) n.261-747G>T | gnomAD v4 |
3 | g.45496247C>T | CA2577571173 | LARS2,LARS2-AS1 | c.1524-28C>T (n.1524-28C>T) c.*1392-28C>T (n.*1392-28C>T) c.1395-28C>T (n.1395-28C>T) n.261-747G>A | gnomAD v4 |
3 | g.45496248A= | CA1361699531 | LARS2,LARS2-AS1 | c.1524-27A= (n.1524-27A=) c.*1392-27A= (n.*1392-27A=) c.1395-27A= (n.1395-27A=) n.261-748T= | |
3 | g.45496248A>G | CA907491146 | LARS2,LARS2-AS1 | c.1524-27A>G (n.1524-27A>G) c.*1392-27A>G (n.*1392-27A>G) c.1395-27A>G (n.1395-27A>G) n.261-748T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45496249A= | CA1361699532 | LARS2,LARS2-AS1 | c.1524-26A= (n.1524-26A=) c.*1392-26A= (n.*1392-26A=) c.1395-26A= (n.1395-26A=) n.261-749T= | |
3 | g.45496249A>G | CA2349628 | LARS2,LARS2-AS1 | c.1524-26A>G (n.1524-26A>G) c.*1392-26A>G (n.*1392-26A>G) c.1395-26A>G (n.1395-26A>G) n.261-749T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496250T>C | CA2349629 | LARS2,LARS2-AS1 | c.1524-25T>C (n.1524-25T>C) c.*1392-25T>C (n.*1392-25T>C) c.1395-25T>C (n.1395-25T>C) n.261-750A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496250T= | CA1361699533 | LARS2,LARS2-AS1 | c.1524-25T= (n.1524-25T=) c.*1392-25T= (n.*1392-25T=) c.1395-25T= (n.1395-25T=) n.261-750A= | |
3 | g.45496251T>A | CA542687696 | LARS2,LARS2-AS1 | c.1524-24T>A (n.1524-24T>A) c.*1392-24T>A (n.*1392-24T>A) c.1395-24T>A (n.1395-24T>A) n.261-751A>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45496251T= | CA1361699534 | LARS2,LARS2-AS1 | c.1524-24T= (n.1524-24T=) c.*1392-24T= (n.*1392-24T=) c.1395-24T= (n.1395-24T=) n.261-751A= | |
3 | g.45496255G>A | CA647871194 | LARS2,LARS2-AS1 | c.1524-20G>A (n.1524-20G>A) c.*1392-20G>A (n.*1392-20G>A) c.1395-20G>A (n.1395-20G>A) n.261-755C>T | COSMIC |
3 | g.45496256A= | CA1361699535 | LARS2,LARS2-AS1 | c.1524-19A= (n.1524-19A=) c.*1392-19A= (n.*1392-19A=) c.1395-19A= (n.1395-19A=) n.261-756T= | |
3 | g.45496256A>G | CA2349630 | LARS2,LARS2-AS1 | c.1524-19A>G (n.1524-19A>G) c.*1392-19A>G (n.*1392-19A>G) c.1395-19A>G (n.1395-19A>G) n.261-756T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496257A>C | CA2577571174 | LARS2,LARS2-AS1 | c.1524-18A>C (n.1524-18A>C) c.*1392-18A>C (n.*1392-18A>C) c.1395-18A>C (n.1395-18A>C) n.261-757T>G | |
3 | g.45496258T>C | CA2665387291 | LARS2,LARS2-AS1 | c.1524-17T>C (n.1524-17T>C) c.*1392-17T>C (n.*1392-17T>C) c.1395-17T>C (n.1395-17T>C) n.261-758A>G | gnomAD v4 |
3 | g.45496259T>C | CA2665387292 | LARS2,LARS2-AS1 | c.1524-16T>C (n.1524-16T>C) c.*1392-16T>C (n.*1392-16T>C) c.1395-16T>C (n.1395-16T>C) n.261-759A>G | gnomAD v4 |
3 | g.45496261C>A | CA1047471133 | LARS2,LARS2-AS1 | c.1524-14C>A (n.1524-14C>A) c.*1392-14C>A (n.*1392-14C>A) c.1395-14C>A (n.1395-14C>A) n.261-761G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45496261C= | CA1361699536 | LARS2,LARS2-AS1 | c.1524-14C= (n.1524-14C=) c.*1392-14C= (n.*1392-14C=) c.1395-14C= (n.1395-14C=) n.261-761G= | |
3 | g.45496262A= | CA1361699537 | LARS2,LARS2-AS1 | c.1524-13A= (n.1524-13A=) c.*1392-13A= (n.*1392-13A=) c.1395-13A= (n.1395-13A=) n.261-762T= | |
3 | g.45496262A>G | CA542687697 | LARS2,LARS2-AS1 | c.1524-13A>G (n.1524-13A>G) c.*1392-13A>G (n.*1392-13A>G) c.1395-13A>G (n.1395-13A>G) n.261-762T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496269_45496272del | CA2665387293 | LARS2,LARS2-AS1 | c.1524-6_1524-3del (n.1524-6_1524-3del) c.*1392-6_*1392-3del (n.*1392-6_*1392-3del) c.1395-6_1395-3del (n.1395-6_1395-3del) n.261-766_261-763del | gnomAD v4 |
3 | g.45496265T>G | CA2665387294 | LARS2,LARS2-AS1 | c.1524-10T>G (n.1524-10T>G) c.*1392-10T>G (n.*1392-10T>G) c.1395-10T>G (n.1395-10T>G) n.261-765A>C | gnomAD v4 |
3 | g.45496266C>A | CA2665387295 | LARS2,LARS2-AS1 | c.1524-9C>A (n.1524-9C>A) c.*1392-9C>A (n.*1392-9C>A) c.1395-9C>A (n.1395-9C>A) n.261-766G>T | gnomAD v4 |
3 | g.45496266C= | CA1361699538 | LARS2,LARS2-AS1 | c.1524-9C= (n.1524-9C=) c.*1392-9C= (n.*1392-9C=) c.1395-9C= (n.1395-9C=) n.261-766G= | |
3 | g.45496266C>T | CA2665387296 | LARS2,LARS2-AS1 | c.1524-9C>T (n.1524-9C>T) c.*1392-9C>T (n.*1392-9C>T) c.1395-9C>T (n.1395-9C>T) n.261-766G>A | gnomAD v4 |
3 | g.45496267T>C | CA2740090904 | LARS2,LARS2-AS1 | c.1524-8T>C (n.1524-8T>C) c.*1392-8T>C (n.*1392-8T>C) c.1395-8T>C (n.1395-8T>C) n.261-767A>G | ClinVar |
3 | g.45496269dup | CA2349631 | LARS2,LARS2-AS1 | c.1524-6dup (n.1524-6dup) c.*1392-6dup (n.*1392-6dup) c.1395-6dup (n.1395-6dup) n.261-767dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45496268T>G | CA1361699540 | LARS2,LARS2-AS1 | c.1524-7T>G (n.1524-7T>G) c.*1392-7T>G (n.*1392-7T>G) c.1395-7T>G (n.1395-7T>G) n.261-768A>C | dbSNP gnomAD v4 |
3 | g.45496268T= | CA1361699539 | LARS2,LARS2-AS1 | c.1524-7T= (n.1524-7T=) c.*1392-7T= (n.*1392-7T=) c.1395-7T= (n.1395-7T=) n.261-768A= | |
3 | g.45496269T>C | CA1361699542 | LARS2,LARS2-AS1 | c.1524-6T>C (n.1524-6T>C) c.*1392-6T>C (n.*1392-6T>C) c.1395-6T>C (n.1395-6T>C) n.261-769A>G | dbSNP gnomAD v4 |
3 | g.45496269T= | CA1361699541 | LARS2,LARS2-AS1 | c.1524-6T= (n.1524-6T=) c.*1392-6T= (n.*1392-6T=) c.1395-6T= (n.1395-6T=) n.261-769A= | |
3 | g.45496273A>C | CA352426634 | LARS2,LARS2-AS1 | c.1524-2A>C (n.1524-2A>C) c.*1392-2A>C (n.*1392-2A>C) c.1395-2A>C (n.1395-2A>C) n.261-773T>G | |
3 | g.45496273A>G | CA352426635 | LARS2,LARS2-AS1 | c.1524-2A>G (n.1524-2A>G) c.*1392-2A>G (n.*1392-2A>G) c.1395-2A>G (n.1395-2A>G) n.261-773T>C | |
3 | g.45496273A>T | CA352426636 | LARS2,LARS2-AS1 | c.1524-2A>T (n.1524-2A>T) c.*1392-2A>T (n.*1392-2A>T) c.1395-2A>T (n.1395-2A>T) n.261-773T>A | |
3 | g.45496274G>A | CA352426637 | LARS2,LARS2-AS1 | c.1524-1G>A (n.1524-1G>A) c.*1392-1G>A (n.*1392-1G>A) c.1395-1G>A (n.1395-1G>A) n.261-774C>T | |
3 | g.45496274G>C | CA352426638 | LARS2,LARS2-AS1 | c.1524-1G>C (n.1524-1G>C) c.*1392-1G>C (n.*1392-1G>C) c.1395-1G>C (n.1395-1G>C) n.261-774C>G | |
3 | g.45496274G= | CA1361699543 | LARS2,LARS2-AS1 | c.1524-1G= (n.1524-1G=) c.*1392-1G= (n.*1392-1G=) c.1395-1G= (n.1395-1G=) n.261-774C= | |
3 | g.45496274G>T | CA352426639 | LARS2,LARS2-AS1 | c.1524-1G>T (n.1524-1G>T) c.*1392-1G>T (n.*1392-1G>T) c.1395-1G>T (n.1395-1G>T) n.261-774C>A | ClinVar dbSNP gnomAD v4 |
3 | g.45496275G>A | CA433434469 | LARS2,LARS2-AS1 | c.1524G>A (p.Arg508=) c.*1392G>A (n.*1392G>A) c.1395G>A (p.Arg465=) n.261-775C>T | gnomAD v4 |
3 | g.45496275G>C | CA352426640 | LARS2,LARS2-AS1 | c.1524G>C (p.Arg508Ser) c.*1392G>C (n.*1392G>C) c.1395G>C (p.Arg465Ser) n.261-775C>G | |
3 | g.45496275G>T | CA352426641 | LARS2,LARS2-AS1 | c.1524G>T (p.Arg508Ser) c.*1392G>T (n.*1392G>T) c.1395G>T (p.Arg465Ser) n.261-775C>A | |
3 | g.45496276T>A | CA352426642 | LARS2,LARS2-AS1 | c.1525T>A (p.Cys509Ser) c.*1393T>A (n.*1393T>A) c.1396T>A (p.Cys466Ser) n.261-776A>T | |
3 | g.45496276T>C | CA352426643 | LARS2,LARS2-AS1 | c.1525T>C (p.Cys509Arg) c.*1393T>C (n.*1393T>C) c.1396T>C (p.Cys466Arg) n.261-776A>G | |
3 | g.45496276T>G | CA352426644 | LARS2,LARS2-AS1 | c.1525T>G (p.Cys509Gly) c.*1393T>G (n.*1393T>G) c.1396T>G (p.Cys466Gly) n.261-776A>C | |
3 | g.45496277G>A | CA73595193 | LARS2,LARS2-AS1 | c.1526G>A (p.Cys509Tyr) c.*1394G>A (n.*1394G>A) c.1397G>A (p.Cys466Tyr) n.261-777C>T | dbSNP gnomAD v4 |
3 | g.45496277G>C | CA352426646 | LARS2,LARS2-AS1 | c.1526G>C (p.Cys509Ser) c.*1394G>C (n.*1394G>C) c.1397G>C (p.Cys466Ser) n.261-777C>G | |
3 | g.45496277G= | CA1361699544 | LARS2,LARS2-AS1 | c.1526G= (p.Cys509=) c.*1394G= (n.*1394G=) c.1397G= (p.Cys466=) n.261-777C= | |
3 | g.45496277G>T | CA352426645 | LARS2,LARS2-AS1 | c.1526G>T (p.Cys509Phe) c.*1394G>T (n.*1394G>T) c.1397G>T (p.Cys466Phe) n.261-777C>A | |
3 | g.45496278C>A | CA352426647 | LARS2,LARS2-AS1 | c.1527C>A (p.Cys509Ter) c.*1395C>A (n.*1395C>A) c.1398C>A (p.Cys466Ter) n.261-778G>T | |
3 | g.45496278C>G | CA352426648 | LARS2,LARS2-AS1 | c.1527C>G (p.Cys509Trp) c.*1395C>G (n.*1395C>G) c.1398C>G (p.Cys466Trp) n.261-778G>C | |
3 | g.45496278C>T | CA433434470 | LARS2,LARS2-AS1 | c.1527C>T (p.Cys509=) c.*1395C>T (n.*1395C>T) c.1398C>T (p.Cys466=) n.261-778G>A | gnomAD v4 |
3 | g.45496279A>C | CA352426649 | LARS2,LARS2-AS1 | c.1528A>C (p.Lys510Gln) c.*1396A>C (n.*1396A>C) c.1399A>C (p.Lys467Gln) n.261-779T>G | |
3 | g.45496279A>G | CA352426650 | LARS2,LARS2-AS1 | c.1528A>G (p.Lys510Glu) c.*1396A>G (n.*1396A>G) c.1399A>G (p.Lys467Glu) n.261-779T>C | |
3 | g.45496279A>T | CA352426651 | LARS2,LARS2-AS1 | c.1528A>T (p.Lys510Ter) c.*1396A>T (n.*1396A>T) c.1399A>T (p.Lys467Ter) n.261-779T>A | |
3 | g.45496280A>C | CA352426652 | LARS2,LARS2-AS1 | c.1529A>C (p.Lys510Thr) c.*1397A>C (n.*1397A>C) c.1400A>C (p.Lys467Thr) n.261-780T>G | |
3 | g.45496280A>G | CA352426653 | LARS2,LARS2-AS1 | c.1529A>G (p.Lys510Arg) c.*1397A>G (n.*1397A>G) c.1400A>G (p.Lys467Arg) n.261-780T>C | |
3 | g.45496280A>T | CA352426654 | LARS2,LARS2-AS1 | c.1529A>T (p.Lys510Met) c.*1397A>T (n.*1397A>T) c.1400A>T (p.Lys467Met) n.261-780T>A | |
3 | g.45496281G>A | CA2349632 | LARS2,LARS2-AS1 | c.1530G>A (p.Lys510=) c.*1398G>A (n.*1398G>A) c.1401G>A (p.Lys467=) n.261-781C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496281G>C | CA352426655 | LARS2,LARS2-AS1 | c.1530G>C (p.Lys510Asn) c.*1398G>C (n.*1398G>C) c.1401G>C (p.Lys467Asn) n.261-781C>G | |
3 | g.45496281G= | CA1361699545 | LARS2,LARS2-AS1 | c.1530G= (p.Lys510=) c.*1398G= (n.*1398G=) c.1401G= (p.Lys467=) n.261-781C= | |
3 | g.45496281G>T | CA352426656 | LARS2,LARS2-AS1 | c.1530G>T (p.Lys510Asn) c.*1398G>T (n.*1398G>T) c.1401G>T (p.Lys467Asn) n.261-781C>A | |
3 | g.45496282G>A | CA352426658 | LARS2,LARS2-AS1 | c.1531G>A (p.Gly511Arg) c.*1399G>A (n.*1399G>A) c.1402G>A (p.Gly468Arg) n.261-782C>T | |
3 | g.45496282G>C | CA352426659 | LARS2,LARS2-AS1 | c.1531G>C (p.Gly511Arg) c.*1399G>C (n.*1399G>C) c.1402G>C (p.Gly468Arg) n.261-782C>G | |
3 | g.45496282G>T | CA352426657 | LARS2,LARS2-AS1 | c.1531G>T (p.Gly511Ter) c.*1399G>T (n.*1399G>T) c.1402G>T (p.Gly468Ter) n.261-782C>A | |
3 | g.45496283G>A | CA352426662 | LARS2,LARS2-AS1 | c.1532G>A (p.Gly511Glu) c.*1400G>A (n.*1400G>A) c.1403G>A (p.Gly468Glu) n.261-783C>T | dbSNP |
3 | g.45496283G>C | CA352426660 | LARS2,LARS2-AS1 | c.1532G>C (p.Gly511Ala) c.*1400G>C (n.*1400G>C) c.1403G>C (p.Gly468Ala) n.261-783C>G | |
3 | g.45496283G= | CA1361699546 | LARS2,LARS2-AS1 | c.1532G= (p.Gly511=) c.*1400G= (n.*1400G=) c.1403G= (p.Gly468=) n.261-783C= | |
3 | g.45496283G>T | CA352426661 | LARS2,LARS2-AS1 | c.1532G>T (p.Gly511Val) c.*1400G>T (n.*1400G>T) c.1403G>T (p.Gly468Val) n.261-783C>A | |
3 | g.45496284A>C | CA433434471 | LARS2,LARS2-AS1 | c.1533A>C (p.Gly511=) c.*1401A>C (n.*1401A>C) c.1404A>C (p.Gly468=) n.261-784T>G | |
3 | g.45496284A>G | CA433434472 | LARS2,LARS2-AS1 | c.1533A>G (p.Gly511=) c.*1401A>G (n.*1401A>G) c.1404A>G (p.Gly468=) n.261-784T>C | |
3 | g.45496284A>T | CA433434473 | LARS2,LARS2-AS1 | c.1533A>T (p.Gly511=) c.*1401A>T (n.*1401A>T) c.1404A>T (p.Gly468=) n.261-784T>A | |
3 | g.45496285G>A | CA352426663 | LARS2,LARS2-AS1 | c.1534G>A (p.Ala512Thr) c.*1402G>A (n.*1402G>A) c.1405G>A (p.Ala469Thr) n.261-785C>T | dbSNP gnomAD v4 |
3 | g.45496285G>C | CA352426664 | LARS2,LARS2-AS1 | c.1534G>C (p.Ala512Pro) c.*1402G>C (n.*1402G>C) c.1405G>C (p.Ala469Pro) n.261-785C>G | |
3 | g.45496285G= | CA1361699547 | LARS2,LARS2-AS1 | c.1534G= (p.Ala512=) c.*1402G= (n.*1402G=) c.1405G= (p.Ala469=) n.261-785C= | |
3 | g.45496285G>T | CA352426665 | LARS2,LARS2-AS1 | c.1534G>T (p.Ala512Ser) c.*1402G>T (n.*1402G>T) c.1405G>T (p.Ala469Ser) n.261-785C>A | |
3 | g.45496286C>A | CA352426666 | LARS2,LARS2-AS1 | c.1535C>A (p.Ala512Glu) c.*1403C>A (n.*1403C>A) c.1406C>A (p.Ala469Glu) n.261-786G>T | |
3 | g.45496286C>G | CA352426667 | LARS2,LARS2-AS1 | c.1535C>G (p.Ala512Gly) c.*1403C>G (n.*1403C>G) c.1406C>G (p.Ala469Gly) n.261-786G>C | |
3 | g.45496286C>T | CA352426668 | LARS2,LARS2-AS1 | c.1535C>T (p.Ala512Val) c.*1403C>T (n.*1403C>T) c.1406C>T (p.Ala469Val) n.261-786G>A | gnomAD v4 |
3 | g.45496287del | CA2665387297 | LARS2,LARS2-AS1 | c.1536del (p.Ala513ProfsTer?) c.*1404del (n.*1404del) c.1407del (p.Ala470ProfsTer?) n.261-787del | gnomAD v4 |
3 | g.45496287A= | CA1361699548 | LARS2,LARS2-AS1 | c.1536A= (p.Ala512=) c.*1404A= (n.*1404A=) c.1407A= (p.Ala469=) n.261-787T= | |
3 | g.45496287A>C | CA433434474 | LARS2,LARS2-AS1 | c.1536A>C (p.Ala512=) c.*1404A>C (n.*1404A>C) c.1407A>C (p.Ala469=) n.261-787T>G | |
3 | g.45496287A>G | CA2349633 | LARS2,LARS2-AS1 | c.1536A>G (p.Ala512=) c.*1404A>G (n.*1404A>G) c.1407A>G (p.Ala469=) n.261-787T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496287A>T | CA433434475 | LARS2,LARS2-AS1 | c.1536A>T (p.Ala512=) c.*1404A>T (n.*1404A>T) c.1407A>T (p.Ala469=) n.261-787T>A | |
3 | g.45496288G>A | CA352426669 | LARS2,LARS2-AS1 | c.1537G>A (p.Ala513Thr) c.*1405G>A (n.*1405G>A) c.1408G>A (p.Ala470Thr) n.261-788C>T | |
3 | g.45496288G>C | CA352426670 | LARS2,LARS2-AS1 | c.1537G>C (p.Ala513Pro) c.*1405G>C (n.*1405G>C) c.1408G>C (p.Ala470Pro) n.261-788C>G | |
3 | g.45496288G= | CA1361699549 | LARS2,LARS2-AS1 | c.1537G= (p.Ala513=) c.*1405G= (n.*1405G=) c.1408G= (p.Ala470=) n.261-788C= | |
3 | g.45496288G>T | CA352426671 | LARS2,LARS2-AS1 | c.1537G>T (p.Ala513Ser) c.*1405G>T (n.*1405G>T) c.1408G>T (p.Ala470Ser) n.261-788C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45496289C>A | CA352426673 | LARS2,LARS2-AS1 | c.1538C>A (p.Ala513Asp) c.*1406C>A (n.*1406C>A) c.1409C>A (p.Ala470Asp) n.261-789G>T | |
3 | g.45496289C>G | CA352426674 | LARS2,LARS2-AS1 | c.1538C>G (p.Ala513Gly) c.*1406C>G (n.*1406C>G) c.1409C>G (p.Ala470Gly) n.261-789G>C | |
3 | g.45496289C>T | CA352426672 | LARS2,LARS2-AS1 | c.1538C>T (p.Ala513Val) c.*1406C>T (n.*1406C>T) c.1409C>T (p.Ala470Val) n.261-789G>A | |
3 | g.45496290C>A | CA433434476 | LARS2,LARS2-AS1 | c.1539C>A (p.Ala513=) c.*1407C>A (n.*1407C>A) c.1410C>A (p.Ala470=) n.261-790G>T | |
3 | g.45496290C>G | CA433434477 | LARS2,LARS2-AS1 | c.1539C>G (p.Ala513=) c.*1407C>G (n.*1407C>G) c.1410C>G (p.Ala470=) n.261-790G>C | |
3 | g.45496290C>T | CA433434478 | LARS2,LARS2-AS1 | c.1539C>T (p.Ala513=) c.*1407C>T (n.*1407C>T) c.1410C>T (p.Ala470=) n.261-790G>A | gnomAD v4 |
3 | g.45496290_45496292delinsCAA | CA1361699550 | LARS2,LARS2-AS1 | c.1539_1541delinsCAA (p.Ala513=) c.*1407_*1409delinsCAA (n.*1407_*1409delinsCAA) c.1410_1412delinsCAA (p.Ala470=) n.261-792_261-790delinsTTG | |
3 | g.45496291A= | CA1361699552 | LARS2,LARS2-AS1 | c.1540A= (p.Lys514=) c.*1408A= (n.*1408A=) c.1411A= (p.Lys471=) n.261-791T= | |
3 | g.45496291A>C | CA352426675 | LARS2,LARS2-AS1 | c.1540A>C (p.Lys514Gln) c.*1408A>C (n.*1408A>C) c.1411A>C (p.Lys471Gln) n.261-791T>G | |
3 | g.45496291A>G | CA352426676 | LARS2,LARS2-AS1 | c.1540A>G (p.Lys514Glu) c.*1408A>G (n.*1408A>G) c.1411A>G (p.Lys471Glu) n.261-791T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45496291A>T | CA352426677 | LARS2,LARS2-AS1 | c.1540A>T (p.Lys514Ter) c.*1408A>T (n.*1408A>T) c.1411A>T (p.Lys471Ter) n.261-791T>A | |
3 | g.45496291_45496292del | CA2349634 | LARS2,LARS2-AS1 | c.1540_1541del (p.Lys514GlufsTer11) c.*1408_*1409del (n.*1408_*1409del) c.1411_1412del (p.Lys471GlufsTer11) n.261-792_261-791del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45496291_45496293delinsAAG | CA1361699551 | LARS2,LARS2-AS1 | c.1540_1542delinsAAG (p.Lys514=) c.*1408_*1410delinsAAG (n.*1408_*1410delinsAAG) c.1411_1413delinsAAG (p.Lys471=) n.261-793_261-791delinsCTT | |
3 | g.45496291_45496294del | CA2665387298 | LARS2,LARS2-AS1 | c.1540_1543del (p.Lys514GlufsTer?) c.*1408_*1411del (n.*1408_*1411del) c.1411_1414del (p.Lys471GlufsTer?) n.261-794_261-791del | gnomAD v4 |
3 | g.45496292A>C | CA352426680 | LARS2,LARS2-AS1 | c.1541A>C (p.Lys514Thr) c.*1409A>C (n.*1409A>C) c.1412A>C (p.Lys471Thr) n.261-792T>G | |
3 | g.45496292A>G | CA352426679 | LARS2,LARS2-AS1 | c.1541A>G (p.Lys514Arg) c.*1409A>G (n.*1409A>G) c.1412A>G (p.Lys471Arg) n.261-792T>C | |
3 | g.45496292A>T | CA352426678 | LARS2,LARS2-AS1 | c.1541A>T (p.Lys514Met) c.*1409A>T (n.*1409A>T) c.1412A>T (p.Lys471Met) n.261-792T>A | |
3 | g.45496299_45496300del | CA907491212 | LARS2,LARS2-AS1 | c.1548_1549del (p.Glu516AspfsTer9) c.*1416_*1417del (n.*1416_*1417del) c.1419_1420del (p.Glu473AspfsTer9) n.261-793_261-792del | dbSNP gnomAD v4 |
3 | g.45496297_45496300del | CA2665387299 | LARS2,LARS2-AS1 | c.1546_1549del (p.Glu516GlnfsTer?) c.*1414_*1417del (n.*1414_*1417del) c.1417_1420del (p.Glu473GlnfsTer?) n.261-795_261-792del | gnomAD v4 |
3 | g.45496292_45496293insAG | CA645514799 | LARS2,LARS2-AS1 | c.1541_1542insAG (p.Arg515GlyfsTer?) c.*1409_*1410insAG (n.*1409_*1410insAG) c.1412_1413insAG (p.Arg472GlyfsTer?) n.261-793_261-792insCT | COSMIC |
3 | g.45496293G>A | CA433434479 | LARS2,LARS2-AS1 | c.1542G>A (p.Lys514=) c.*1410G>A (n.*1410G>A) c.1413G>A (p.Lys471=) n.261-793C>T | |
3 | g.45496293G>C | CA352426681 | LARS2,LARS2-AS1 | c.1542G>C (p.Lys514Asn) c.*1410G>C (n.*1410G>C) c.1413G>C (p.Lys471Asn) n.261-793C>G | |
3 | g.45496293G>T | CA352426682 | LARS2,LARS2-AS1 | c.1542G>T (p.Lys514Asn) c.*1410G>T (n.*1410G>T) c.1413G>T (p.Lys471Asn) n.261-793C>A | |
3 | g.45496294A>C | CA433434480 | LARS2,LARS2-AS1 | c.1543A>C (p.Arg515=) c.*1411A>C (n.*1411A>C) c.1414A>C (p.Arg472=) n.261-794T>G | |
3 | g.45496294A>G | CA352426683 | LARS2,LARS2-AS1 | c.1543A>G (p.Arg515Gly) c.*1411A>G (n.*1411A>G) c.1414A>G (p.Arg472Gly) n.261-794T>C | |
3 | g.45496294A>T | CA352426684 | LARS2,LARS2-AS1 | c.1543A>T (p.Arg515Ter) c.*1411A>T (n.*1411A>T) c.1414A>T (p.Arg472Ter) n.261-794T>A | |
3 | g.45496295G>A | CA2349635 | LARS2,LARS2-AS1 | c.1544G>A (p.Arg515Lys) c.*1412G>A (n.*1412G>A) c.1415G>A (p.Arg472Lys) n.261-795C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45496295G>C | CA352426685 | LARS2,LARS2-AS1 | c.1544G>C (p.Arg515Thr) c.*1412G>C (n.*1412G>C) c.1415G>C (p.Arg472Thr) n.261-795C>G | |
3 | g.45496295G= | CA1361699553 | LARS2,LARS2-AS1 | c.1544G= (p.Arg515=) c.*1412G= (n.*1412G=) c.1415G= (p.Arg472=) n.261-795C= | |
3 | g.45496295G>T | CA352426686 | LARS2,LARS2-AS1 | c.1544G>T (p.Arg515Ile) c.*1412G>T (n.*1412G>T) c.1415G>T (p.Arg472Ile) n.261-795C>A | |
3 | g.45496296A= | CA1361699554 | LARS2,LARS2-AS1 | c.1545A= (p.Arg515=) c.*1413A= (n.*1413A=) c.1416A= (p.Arg472=) n.261-796T= | |
3 | g.45496296A>C | CA352426687 | LARS2,LARS2-AS1 | c.1545A>C (p.Arg515Ser) c.*1413A>C (n.*1413A>C) c.1416A>C (p.Arg472Ser) n.261-796T>G | |
3 | g.45496296A>G | CA433434481 | LARS2,LARS2-AS1 | c.1545A>G (p.Arg515=) c.*1413A>G (n.*1413A>G) c.1416A>G (p.Arg472=) n.261-796T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.45496296A>T | CA352426688 | LARS2,LARS2-AS1 | c.1545A>T (p.Arg515Ser) c.*1413A>T (n.*1413A>T) c.1416A>T (p.Arg472Ser) n.261-796T>A | |
3 | g.45496297G>A | CA352426689 | LARS2,LARS2-AS1 | c.1546G>A (p.Glu516Lys) c.*1414G>A (n.*1414G>A) c.1417G>A (p.Glu473Lys) n.261-797C>T | |
3 | g.45496297G>C | CA352426691 | LARS2,LARS2-AS1 | c.1546G>C (p.Glu516Gln) c.*1414G>C (n.*1414G>C) c.1417G>C (p.Glu473Gln) n.261-797C>G | gnomAD v4 |
3 | g.45496297G>T | CA352426690 | LARS2,LARS2-AS1 | c.1546G>T (p.Glu516Ter) c.*1414G>T (n.*1414G>T) c.1417G>T (p.Glu473Ter) n.261-797C>A | |
3 | g.45496298A>C | CA352426692 | LARS2,LARS2-AS1 | c.1547A>C (p.Glu516Ala) c.*1415A>C (n.*1415A>C) c.1418A>C (p.Glu473Ala) n.261-798T>G | |
3 | g.45496298A>G | CA352426693 | LARS2,LARS2-AS1 | c.1547A>G (p.Glu516Gly) c.*1415A>G (n.*1415A>G) c.1418A>G (p.Glu473Gly) n.261-798T>C | |
3 | g.45496298A>T | CA352426694 | LARS2,LARS2-AS1 | c.1547A>T (p.Glu516Val) c.*1415A>T (n.*1415A>T) c.1418A>T (p.Glu473Val) n.261-798T>A | |
3 | g.45496299G>A | CA433434482 | LARS2,LARS2-AS1 | c.1548G>A (p.Glu516=) c.*1416G>A (n.*1416G>A) c.1419G>A (p.Glu473=) n.261-799C>T | |
3 | g.45496299G>C | CA352426695 | LARS2,LARS2-AS1 | c.1548G>C (p.Glu516Asp) c.*1416G>C (n.*1416G>C) c.1419G>C (p.Glu473Asp) n.261-799C>G | |
3 | g.45496299G>T | CA352426696 | LARS2,LARS2-AS1 | c.1548G>T (p.Glu516Asp) c.*1416G>T (n.*1416G>T) c.1419G>T (p.Glu473Asp) n.261-799C>A | |
3 | g.45496300A>C | CA352426697 | LARS2,LARS2-AS1 | c.1549A>C (p.Thr517Pro) c.*1417A>C (n.*1417A>C) c.1420A>C (p.Thr474Pro) n.261-800T>G | |
3 | g.45496300A>G | CA352426698 | LARS2,LARS2-AS1 | c.1549A>G (p.Thr517Ala) c.*1417A>G (n.*1417A>G) c.1420A>G (p.Thr474Ala) n.261-800T>C | |
3 | g.45496300A>T | CA352426699 | LARS2,LARS2-AS1 | c.1549A>T (p.Thr517Ser) c.*1417A>T (n.*1417A>T) c.1420A>T (p.Thr474Ser) n.261-800T>A | gnomAD v4 |
3 | g.45496301C>A | CA352426700 | LARS2,LARS2-AS1 | c.1550C>A (p.Thr517Lys) c.*1418C>A (n.*1418C>A) c.1421C>A (p.Thr474Lys) n.261-801G>T | |
3 | g.45496301C= | CA1361699555 | LARS2,LARS2-AS1 | c.1550C= (p.Thr517=) c.*1418C= (n.*1418C=) c.1421C= (p.Thr474=) n.261-801G= | |
3 | g.45496301C>G | CA352426701 | LARS2,LARS2-AS1 | c.1550C>G (p.Thr517Arg) c.*1418C>G (n.*1418C>G) c.1421C>G (p.Thr474Arg) n.261-801G>C | dbSNP |
3 | g.45496301C>T | CA2349636 | LARS2,LARS2-AS1 | c.1550C>T (p.Thr517Ile) c.*1418C>T (n.*1418C>T) c.1421C>T (p.Thr474Ile) n.261-801G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496302A>C | CA433434483 | LARS2,LARS2-AS1 | c.1551A>C (p.Thr517=) c.*1419A>C (n.*1419A>C) c.1422A>C (p.Thr474=) n.261-802T>G | |
3 | g.45496302A>G | CA433434484 | LARS2,LARS2-AS1 | c.1551A>G (p.Thr517=) c.*1419A>G (n.*1419A>G) c.1422A>G (p.Thr474=) n.261-802T>C | gnomAD v4 |
3 | g.45496302A>T | CA433434485 | LARS2,LARS2-AS1 | c.1551A>T (p.Thr517=) c.*1419A>T (n.*1419A>T) c.1422A>T (p.Thr474=) n.261-802T>A | |
3 | g.45496303G>A | CA2349637 | LARS2,LARS2-AS1 | c.1552G>A (p.Asp518Asn) c.*1420G>A (n.*1420G>A) c.1423G>A (p.Asp475Asn) n.261-803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496303G>C | CA352426703 | LARS2,LARS2-AS1 | c.1552G>C (p.Asp518His) c.*1420G>C (n.*1420G>C) c.1423G>C (p.Asp475His) n.261-803C>G | |
3 | g.45496303G= | CA1361699556 | LARS2,LARS2-AS1 | c.1552G= (p.Asp518=) c.*1420G= (n.*1420G=) c.1423G= (p.Asp475=) n.261-803C= | |
3 | g.45496303G>T | CA352426702 | LARS2,LARS2-AS1 | c.1552G>T (p.Asp518Tyr) c.*1420G>T (n.*1420G>T) c.1423G>T (p.Asp475Tyr) n.261-803C>A | gnomAD v4 |
3 | g.45496304A>C | CA352426704 | LARS2,LARS2-AS1 | c.1553A>C (p.Asp518Ala) c.*1421A>C (n.*1421A>C) c.1424A>C (p.Asp475Ala) n.261-804T>G | |
3 | g.45496304A>G | CA352426705 | LARS2,LARS2-AS1 | c.1553A>G (p.Asp518Gly) c.*1421A>G (n.*1421A>G) c.1424A>G (p.Asp475Gly) n.261-804T>C | |
3 | g.45496304A>T | CA352426706 | LARS2,LARS2-AS1 | c.1553A>T (p.Asp518Val) c.*1421A>T (n.*1421A>T) c.1424A>T (p.Asp475Val) n.261-804T>A | |
3 | g.45496305C>A | CA352426707 | LARS2,LARS2-AS1 | c.1554C>A (p.Asp518Glu) c.*1422C>A (n.*1422C>A) c.1425C>A (p.Asp475Glu) n.261-805G>T | |
3 | g.45496305C>G | CA352426708 | LARS2,LARS2-AS1 | c.1554C>G (p.Asp518Glu) c.*1422C>G (n.*1422C>G) c.1425C>G (p.Asp475Glu) n.261-805G>C | |
3 | g.45496305C>T | CA433434486 | LARS2,LARS2-AS1 | c.1554C>T (p.Asp518=) c.*1422C>T (n.*1422C>T) c.1425C>T (p.Asp475=) n.261-805G>A | ClinVar gnomAD v4 |
3 | g.45496306A>C | CA352426709 | LARS2,LARS2-AS1 | c.1555A>C (p.Thr519Pro) c.*1423A>C (n.*1423A>C) c.1426A>C (p.Thr476Pro) n.261-806T>G | |
3 | g.45496306A>G | CA352426710 | LARS2,LARS2-AS1 | c.1555A>G (p.Thr519Ala) c.*1423A>G (n.*1423A>G) c.1426A>G (p.Thr476Ala) n.261-806T>C | |
3 | g.45496306A>T | CA352426711 | LARS2,LARS2-AS1 | c.1555A>T (p.Thr519Ser) c.*1423A>T (n.*1423A>T) c.1426A>T (p.Thr476Ser) n.261-806T>A | |
3 | g.45496307C>A | CA352426712 | LARS2,LARS2-AS1 | c.1556C>A (p.Thr519Lys) c.*1424C>A (n.*1424C>A) c.1427C>A (p.Thr476Lys) n.261-807G>T | |
3 | g.45496307C= | CA1361699557 | LARS2,LARS2-AS1 | c.1556C= (p.Thr519=) c.*1424C= (n.*1424C=) c.1427C= (p.Thr476=) n.261-807G= | |
3 | g.45496307C>G | CA352426713 | LARS2,LARS2-AS1 | c.1556C>G (p.Thr519Arg) c.*1424C>G (n.*1424C>G) c.1427C>G (p.Thr476Arg) n.261-807G>C | |
3 | g.45496307C>T | CA2349638 | LARS2,LARS2-AS1 | c.1556C>T (p.Thr519Met) c.*1424C>T (n.*1424C>T) c.1427C>T (p.Thr476Met) n.261-807G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496308G>A | CA2349639 | LARS2,LARS2-AS1 | c.1557G>A (p.Thr519=) c.*1425G>A (n.*1425G>A) c.1428G>A (p.Thr476=) n.261-808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.45496308G>C | CA433434487 | LARS2,LARS2-AS1 | c.1557G>C (p.Thr519=) c.*1425G>C (n.*1425G>C) c.1428G>C (p.Thr476=) n.261-808C>G | gnomAD v4 COSMIC |
3 | g.45496308G= | CA1361699558 | LARS2,LARS2-AS1 | c.1557G= (p.Thr519=) c.*1425G= (n.*1425G=) c.1428G= (p.Thr476=) n.261-808C= | |
3 | g.45496308G>T | CA433434488 | LARS2,LARS2-AS1 | c.1557G>T (p.Thr519=) c.*1425G>T (n.*1425G>T) c.1428G>T (p.Thr476=) n.261-808C>A | gnomAD v4 |
3 | g.45496309A= | CA1361699559 | LARS2,LARS2-AS1 | c.1558A= (p.Met520=) c.*1426A= (n.*1426A=) c.1429A= (p.Met477=) n.261-809T= | |
3 | g.45496309A>C | CA352426714 | LARS2,LARS2-AS1 | c.1558A>C (p.Met520Leu) c.*1426A>C (n.*1426A>C) c.1429A>C (p.Met477Leu) n.261-809T>G | |
3 | g.45496309A>G | CA352426716 | LARS2,LARS2-AS1 | c.1558A>G (p.Met520Val) c.*1426A>G (n.*1426A>G) c.1429A>G (p.Met477Val) n.261-809T>C | |
3 | g.45496309A>T | CA352426715 | LARS2,LARS2-AS1 | c.1558A>T (p.Met520Leu) c.*1426A>T (n.*1426A>T) c.1429A>T (p.Met477Leu) n.261-809T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496310T>A | CA352426717 | LARS2,LARS2-AS1 | c.1559T>A (p.Met520Lys) c.*1427T>A (n.*1427T>A) c.1430T>A (p.Met477Lys) n.261-810A>T | |
3 | g.45496310T>C | CA352426719 | LARS2,LARS2-AS1 | c.1559T>C (p.Met520Thr) c.*1427T>C (n.*1427T>C) c.1430T>C (p.Met477Thr) n.261-810A>G | dbSNP gnomAD v4 |
3 | g.45496310T>G | CA352426718 | LARS2,LARS2-AS1 | c.1559T>G (p.Met520Arg) c.*1427T>G (n.*1427T>G) c.1430T>G (p.Met477Arg) n.261-810A>C | |
3 | g.45496310T= | CA1361699560 | LARS2,LARS2-AS1 | c.1559T= (p.Met520=) c.*1427T= (n.*1427T=) c.1430T= (p.Met477=) n.261-810A= | |
3 | g.45496311G>A | CA352426720 | LARS2,LARS2-AS1 | c.1560G>A (p.Met520Ile) c.*1428G>A (n.*1428G>A) c.1431G>A (p.Met477Ile) n.261-811C>T | |
3 | g.45496311G>C | CA352426722 | LARS2,LARS2-AS1 | c.1560G>C (p.Met520Ile) c.*1428G>C (n.*1428G>C) c.1431G>C (p.Met477Ile) n.261-811C>G | |
3 | g.45496311G>T | CA352426721 | LARS2,LARS2-AS1 | c.1560G>T (p.Met520Ile) c.*1428G>T (n.*1428G>T) c.1431G>T (p.Met477Ile) n.261-811C>A | gnomAD v4 |
3 | g.45496312G>A | CA352426723 | LARS2,LARS2-AS1 | c.1561G>A (p.Asp521Asn) c.*1429G>A (n.*1429G>A) c.1432G>A (p.Asp478Asn) n.261-812C>T | |
3 | g.45496312G>C | CA352426725 | LARS2,LARS2-AS1 | c.1561G>C (p.Asp521His) c.*1429G>C (n.*1429G>C) c.1432G>C (p.Asp478His) n.261-812C>G | gnomAD v4 |
3 | g.45496312G>T | CA352426724 | LARS2,LARS2-AS1 | c.1561G>T (p.Asp521Tyr) c.*1429G>T (n.*1429G>T) c.1432G>T (p.Asp478Tyr) n.261-812C>A | |
3 | g.45496313A>C | CA352426726 | LARS2,LARS2-AS1 | c.1562A>C (p.Asp521Ala) c.*1430A>C (n.*1430A>C) c.1433A>C (p.Asp478Ala) n.261-813T>G | |
3 | g.45496313A>G | CA352426728 | LARS2,LARS2-AS1 | c.1562A>G (p.Asp521Gly) c.*1430A>G (n.*1430A>G) c.1433A>G (p.Asp478Gly) n.261-813T>C | |
3 | g.45496313A>T | CA352426727 | LARS2,LARS2-AS1 | c.1562A>T (p.Asp521Val) c.*1430A>T (n.*1430A>T) c.1433A>T (p.Asp478Val) n.261-813T>A | |
3 | g.45496314T>A | CA352426729 | LARS2,LARS2-AS1 | c.1563T>A (p.Asp521Glu) c.*1431T>A (n.*1431T>A) c.1434T>A (p.Asp478Glu) n.261-814A>T | |
3 | g.45496314T>C | CA433434489 | LARS2,LARS2-AS1 | c.1563T>C (p.Asp521=) c.*1431T>C (n.*1431T>C) c.1434T>C (p.Asp478=) n.261-814A>G | |
3 | g.45496314T>G | CA352426730 | LARS2,LARS2-AS1 | c.1563T>G (p.Asp521Glu) c.*1431T>G (n.*1431T>G) c.1434T>G (p.Asp478Glu) n.261-814A>C | |
3 | g.45496315A= | CA1361699561 | LARS2,LARS2-AS1 | c.1564A= (p.Thr522=) c.*1432A= (n.*1432A=) c.1435A= (p.Thr479=) n.261-815T= | |
3 | g.45496315A>C | CA352426731 | LARS2,LARS2-AS1 | c.1564A>C (p.Thr522Pro) c.*1432A>C (n.*1432A>C) c.1435A>C (p.Thr479Pro) n.261-815T>G | |
3 | g.45496315A>G | CA352426732 | LARS2,LARS2-AS1 | c.1564A>G (p.Thr522Ala) c.*1432A>G (n.*1432A>G) c.1435A>G (p.Thr479Ala) n.261-815T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.45496315A>T | CA352426733 | LARS2,LARS2-AS1 | c.1564A>T (p.Thr522Ser) c.*1432A>T (n.*1432A>T) c.1435A>T (p.Thr479Ser) n.261-815T>A | |
3 | g.45496316C>A | CA143979 | LARS2,LARS2-AS1 | c.1565C>A (p.Thr522Asn) c.*1433C>A (n.*1433C>A) c.1436C>A (p.Thr479Asn) n.261-816G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496316C= | CA1361699562 | LARS2,LARS2-AS1 | c.1565C= (p.Thr522=) c.*1433C= (n.*1433C=) c.1436C= (p.Thr479=) n.261-816G= | |
3 | g.45496316C>G | CA352426734 | LARS2,LARS2-AS1 | c.1565C>G (p.Thr522Ser) c.*1433C>G (n.*1433C>G) c.1436C>G (p.Thr479Ser) n.261-816G>C | |
3 | g.45496316C>T | CA352426735 | LARS2,LARS2-AS1 | c.1565C>T (p.Thr522Ile) c.*1433C>T (n.*1433C>T) c.1436C>T (p.Thr479Ile) n.261-816G>A | |
3 | g.45496317C>A | CA433434492 | LARS2,LARS2-AS1 | c.1566C>A (p.Thr522=) c.*1434C>A (n.*1434C>A) c.1437C>A (p.Thr479=) n.261-817G>T | |
3 | g.45496317C= | CA1361699563 | LARS2,LARS2-AS1 | c.1566C= (p.Thr522=) c.*1434C= (n.*1434C=) c.1437C= (p.Thr479=) n.261-817G= | |
3 | g.45496317C>G | CA433434491 | LARS2,LARS2-AS1 | c.1566C>G (p.Thr522=) c.*1434C>G (n.*1434C>G) c.1437C>G (p.Thr479=) n.261-817G>C | |
3 | g.45496317C>T | CA433434490 | LARS2,LARS2-AS1 | c.1566C>T (p.Thr522=) c.*1434C>T (n.*1434C>T) c.1437C>T (p.Thr479=) n.261-817G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45496318T>A | CA352426736 | LARS2,LARS2-AS1 | c.1567T>A (p.Phe523Ile) c.*1435T>A (n.*1435T>A) c.1438T>A (p.Phe480Ile) n.261-818A>T | |
3 | g.45496318T>C | CA352426737 | LARS2,LARS2-AS1 | c.1567T>C (p.Phe523Leu) c.*1435T>C (n.*1435T>C) c.1438T>C (p.Phe480Leu) n.261-818A>G | |
3 | g.45496318T>G | CA352426738 | LARS2,LARS2-AS1 | c.1567T>G (p.Phe523Val) c.*1435T>G (n.*1435T>G) c.1438T>G (p.Phe480Val) n.261-818A>C | |
3 | g.45496319T>A | CA352426741 | LARS2,LARS2-AS1 | c.1568T>A (p.Phe523Tyr) c.*1436T>A (n.*1436T>A) c.1439T>A (p.Phe480Tyr) n.261-819A>T | |
3 | g.45496319T>C | CA352426740 | LARS2,LARS2-AS1 | c.1568T>C (p.Phe523Ser) c.*1436T>C (n.*1436T>C) c.1439T>C (p.Phe480Ser) n.261-819A>G | |
3 | g.45496319T>G | CA352426739 | LARS2,LARS2-AS1 | c.1568T>G (p.Phe523Cys) c.*1436T>G (n.*1436T>G) c.1439T>G (p.Phe480Cys) n.261-819A>C | |
3 | g.45496320T>A | CA352426742 | LARS2,LARS2-AS1 | c.1569T>A (p.Phe523Leu) c.*1437T>A (n.*1437T>A) c.1440T>A (p.Phe480Leu) n.261-820A>T | |
3 | g.45496320T>C | CA433434493 | LARS2,LARS2-AS1 | c.1569T>C (p.Phe523=) c.*1437T>C (n.*1437T>C) c.1440T>C (p.Phe480=) n.261-820A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496320T>G | CA352426743 | LARS2,LARS2-AS1 | c.1569T>G (p.Phe523Leu) c.*1437T>G (n.*1437T>G) c.1440T>G (p.Phe480Leu) n.261-820A>C | |
3 | g.45496320T= | CA1361699564 | LARS2,LARS2-AS1 | c.1569T= (p.Phe523=) c.*1437T= (n.*1437T=) c.1440T= (p.Phe480=) n.261-820A= | |
3 | g.45496321G>A | CA352426744 | LARS2,LARS2-AS1 | c.1570G>A (p.Val524Ile) c.*1438G>A (n.*1438G>A) c.1441G>A (p.Val481Ile) n.261-821C>T | |
3 | g.45496321G>C | CA352426745 | LARS2,LARS2-AS1 | c.1570G>C (p.Val524Leu) c.*1438G>C (n.*1438G>C) c.1441G>C (p.Val481Leu) n.261-821C>G | |
3 | g.45496321G>T | CA352426746 | LARS2,LARS2-AS1 | c.1570G>T (p.Val524Phe) c.*1438G>T (n.*1438G>T) c.1441G>T (p.Val481Phe) n.261-821C>A | |
3 | g.45496322T>A | CA352426747 | LARS2,LARS2-AS1 | c.1571T>A (p.Val524Asp) c.*1439T>A (n.*1439T>A) c.1442T>A (p.Val481Asp) n.261-822A>T | |
3 | g.45496322T>C | CA352426748 | LARS2,LARS2-AS1 | c.1571T>C (p.Val524Ala) c.*1439T>C (n.*1439T>C) c.1442T>C (p.Val481Ala) n.261-822A>G | |
3 | g.45496322T>G | CA352426749 | LARS2,LARS2-AS1 | c.1571T>G (p.Val524Gly) c.*1439T>G (n.*1439T>G) c.1442T>G (p.Val481Gly) n.261-822A>C | |
3 | g.45496323T>A | CA433434494 | LARS2,LARS2-AS1 | c.1572T>A (p.Val524=) c.*1440T>A (n.*1440T>A) c.1443T>A (p.Val481=) n.261-823A>T | |
3 | g.45496323T>C | CA433434496 | LARS2,LARS2-AS1 | c.1572T>C (p.Val524=) c.*1440T>C (n.*1440T>C) c.1443T>C (p.Val481=) n.261-823A>G | gnomAD v4 |
3 | g.45496323T>G | CA433434495 | LARS2,LARS2-AS1 | c.1572T>G (p.Val524=) c.*1440T>G (n.*1440T>G) c.1443T>G (p.Val481=) n.261-823A>C | |
3 | g.45496324G>A | CA352426750 | LARS2,LARS2-AS1 | c.1573G>A (p.Asp525Asn) c.*1441G>A (n.*1441G>A) c.1444G>A (p.Asp482Asn) n.261-824C>T | |
3 | g.45496324G>C | CA352426751 | LARS2,LARS2-AS1 | c.1573G>C (p.Asp525His) c.*1441G>C (n.*1441G>C) c.1444G>C (p.Asp482His) n.261-824C>G | |
3 | g.45496324G>T | CA352426752 | LARS2,LARS2-AS1 | c.1573G>T (p.Asp525Tyr) c.*1441G>T (n.*1441G>T) c.1444G>T (p.Asp482Tyr) n.261-824C>A | |
3 | g.45496325A>C | CA352426755 | LARS2,LARS2-AS1 | c.1574A>C (p.Asp525Ala) c.*1442A>C (n.*1442A>C) c.1445A>C (p.Asp482Ala) n.261-825T>G | |
3 | g.45496325A>G | CA352426754 | LARS2,LARS2-AS1 | c.1574A>G (p.Asp525Gly) c.*1442A>G (n.*1442A>G) c.1445A>G (p.Asp482Gly) n.261-825T>C | |
3 | g.45496325A>T | CA352426753 | LARS2,LARS2-AS1 | c.1574A>T (p.Asp525Val) c.*1442A>T (n.*1442A>T) c.1445A>T (p.Asp482Val) n.261-825T>A | |
3 | g.45496326T>A | CA352426756 | LARS2,LARS2-AS1 | c.1575T>A (p.Asp525Glu) c.*1443T>A (n.*1443T>A) c.1446T>A (p.Asp482Glu) n.261-826A>T | |
3 | g.45496326T>C | CA433434497 | LARS2,LARS2-AS1 | c.1575T>C (p.Asp525=) c.*1443T>C (n.*1443T>C) c.1446T>C (p.Asp482=) n.261-826A>G | |
3 | g.45496326T>G | CA352426757 | LARS2,LARS2-AS1 | c.1575T>G (p.Asp525Glu) c.*1443T>G (n.*1443T>G) c.1446T>G (p.Asp482Glu) n.261-826A>C | |
3 | g.45496327T>A | CA352426758 | LARS2,LARS2-AS1 | c.1576T>A (p.Ser526Thr) c.*1444T>A (n.*1444T>A) c.1447T>A (p.Ser483Thr) n.261-827A>T | |
3 | g.45496327T>C | CA352426759 | LARS2,LARS2-AS1 | c.1576T>C (p.Ser526Pro) c.*1444T>C (n.*1444T>C) c.1447T>C (p.Ser483Pro) n.261-827A>G | |
3 | g.45496327T>G | CA352426760 | LARS2,LARS2-AS1 | c.1576T>G (p.Ser526Ala) c.*1444T>G (n.*1444T>G) c.1447T>G (p.Ser483Ala) n.261-827A>C | |
3 | g.45496328C>A | CA352426761 | LARS2,LARS2-AS1 | c.1577C>A (p.Ser526Tyr) c.*1445C>A (n.*1445C>A) c.1448C>A (p.Ser483Tyr) n.261-828G>T | |
3 | g.45496328C>G | CA352426762 | LARS2,LARS2-AS1 | c.1577C>G (p.Ser526Cys) c.*1445C>G (n.*1445C>G) c.1448C>G (p.Ser483Cys) n.261-828G>C | |
3 | g.45496328C>T | CA352426763 | LARS2,LARS2-AS1 | c.1577C>T (p.Ser526Phe) c.*1445C>T (n.*1445C>T) c.1448C>T (p.Ser483Phe) n.261-828G>A | |
3 | g.45496329T>A | CA433434498 | LARS2,LARS2-AS1 | c.1578T>A (p.Ser526=) c.*1446T>A (n.*1446T>A) c.1449T>A (p.Ser483=) n.261-829A>T | |
3 | g.45496329T>C | CA433434499 | LARS2,LARS2-AS1 | c.1578T>C (p.Ser526=) c.*1446T>C (n.*1446T>C) c.1449T>C (p.Ser483=) n.261-829A>G | |
3 | g.45496329T>G | CA433434500 | LARS2,LARS2-AS1 | c.1578T>G (p.Ser526=) c.*1446T>G (n.*1446T>G) c.1449T>G (p.Ser483=) n.261-829A>C | |
3 | g.45496330G>A | CA352426764 | LARS2,LARS2-AS1 | c.1579G>A (p.Ala527Thr) c.*1447G>A (n.*1447G>A) c.1450G>A (p.Ala484Thr) n.261-830C>T | |
3 | g.45496330G>C | CA352426765 | LARS2,LARS2-AS1 | c.1579G>C (p.Ala527Pro) c.*1447G>C (n.*1447G>C) c.1450G>C (p.Ala484Pro) n.261-830C>G | |
3 | g.45496330G>T | CA352426766 | LARS2,LARS2-AS1 | c.1579G>T (p.Ala527Ser) c.*1447G>T (n.*1447G>T) c.1450G>T (p.Ala484Ser) n.261-830C>A | |
3 | g.45496330_45496340delinsGCTTGGTACTA | CA1361699565 | LARS2,LARS2-AS1 | c.1579_1589delinsGCTTGGTACTA (p.Ala527=) c.*1447_*1457delinsGCTTGGTACTA (n.*1447_*1457delinsGCTTGGTACTA) c.1450_1460delinsGCTTGGTACTA (p.Ala484=) n.261-840_261-830delinsTAGTACCAAGC | |
3 | g.45496331C>A | CA352426769 | LARS2,LARS2-AS1 | c.1580C>A (p.Ala527Asp) c.*1448C>A (n.*1448C>A) c.1451C>A (p.Ala484Asp) n.261-831G>T | |
3 | g.45496331C>G | CA352426768 | LARS2,LARS2-AS1 | c.1580C>G (p.Ala527Gly) c.*1448C>G (n.*1448C>G) c.1451C>G (p.Ala484Gly) n.261-831G>C | |
3 | g.45496331C>T | CA352426767 | LARS2,LARS2-AS1 | c.1580C>T (p.Ala527Val) c.*1448C>T (n.*1448C>T) c.1451C>T (p.Ala484Val) n.261-831G>A | gnomAD v4 |
3 | g.45496334_45496343del | CA542687698 | LARS2,LARS2-AS1 | c.1583_1592del (p.Trp528SerfsTer?) c.*1451_*1460del (n.*1451_*1460del) c.1454_1463del (p.Trp485SerfsTer?) n.261-840_261-831del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.45496332T>A | CA433434501 | LARS2,LARS2-AS1 | c.1581T>A (p.Ala527=) c.*1449T>A (n.*1449T>A) c.1452T>A (p.Ala484=) n.261-832A>T | |
3 | g.45496332T>C | CA433434502 | LARS2,LARS2-AS1 | c.1581T>C (p.Ala527=) c.*1449T>C (n.*1449T>C) c.1452T>C (p.Ala484=) n.261-832A>G | |
3 | g.45496332T>G | CA433434503 | LARS2,LARS2-AS1 | c.1581T>G (p.Ala527=) c.*1449T>G (n.*1449T>G) c.1452T>G (p.Ala484=) n.261-832A>C | |
3 | g.45496333T>A | CA352426770 | LARS2,LARS2-AS1 | c.1582T>A (p.Trp528Arg) c.*1450T>A (n.*1450T>A) c.1453T>A (p.Trp485Arg) n.261-833A>T | |
3 | g.45496333T>C | CA352426771 | LARS2,LARS2-AS1 | c.1582T>C (p.Trp528Arg) c.*1450T>C (n.*1450T>C) c.1453T>C (p.Trp485Arg) n.261-833A>G | |
3 | g.45496333T>G | CA352426772 | LARS2,LARS2-AS1 | c.1582T>G (p.Trp528Gly) c.*1450T>G (n.*1450T>G) c.1453T>G (p.Trp485Gly) n.261-833A>C | |
3 | g.45496334G>A | CA352426773 | LARS2,LARS2-AS1 | c.1583G>A (p.Trp528Ter) c.*1451G>A (n.*1451G>A) c.1454G>A (p.Trp485Ter) n.261-834C>T | |
3 | g.45496334G>C | CA352426774 | LARS2,LARS2-AS1 | c.1583G>C (p.Trp528Ser) c.*1451G>C (n.*1451G>C) c.1454G>C (p.Trp485Ser) n.261-834C>G | |
3 | g.45496334G>T | CA352426775 | LARS2,LARS2-AS1 | c.1583G>T (p.Trp528Leu) c.*1451G>T (n.*1451G>T) c.1454G>T (p.Trp485Leu) n.261-834C>A | |
3 | g.45496335G>A | CA352426776 | LARS2,LARS2-AS1 | c.1584G>A (p.Trp528Ter) c.*1452G>A (n.*1452G>A) c.1455G>A (p.Trp485Ter) n.261-835C>T | |
3 | g.45496335G>C | CA229150 | LARS2,LARS2-AS1 | c.1584G>C (p.Trp528Cys) c.*1452G>C (n.*1452G>C) c.1455G>C (p.Trp485Cys) n.261-835C>G | ClinVar dbSNP COSMIC |
3 | g.45496335G= | CA1361699566 | LARS2,LARS2-AS1 | c.1584G= (p.Trp528=) c.*1452G= (n.*1452G=) c.1455G= (p.Trp485=) n.261-835C= | |
3 | g.45496335G>T | CA2349640 | LARS2,LARS2-AS1 | c.1584G>T (p.Trp528Cys) c.*1452G>T (n.*1452G>T) c.1455G>T (p.Trp485Cys) n.261-835C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.45496336T>A | CA352426777 | LARS2,LARS2-AS1 | c.1585T>A (p.Tyr529Asn) c.*1453T>A (n.*1453T>A) c.1456T>A (p.Tyr486Asn) n.261-836A>T | |
3 | g.45496336T>C | CA352426778 | LARS2,LARS2-AS1 | c.1585T>C (p.Tyr529His) c.*1453T>C (n.*1453T>C) c.1456T>C (p.Tyr486His) n.261-836A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.45496336T>G | CA352426779 | LARS2,LARS2-AS1 | c.1585T>G (p.Tyr529Asp) c.*1453T>G (n.*1453T>G) c.1456T>G (p.Tyr486Asp) n.261-836A>C | |
3 | g.45496336T= | CA1361699567 | LARS2,LARS2-AS1 | c.1585T= (p.Tyr529=) c.*1453T= (n.*1453T=) c.1456T= (p.Tyr486=) n.261-836A= | |
3 | g.45496337A>C | CA352426782 | LARS2,LARS2-AS1 | c.1586A>C (p.Tyr529Ser) c.*1454A>C (n.*1454A>C) c.1457A>C (p.Tyr486Ser) n.261-837T>G | |
3 | g.45496337A>G | CA352426781 | LARS2,LARS2-AS1 | c.1586A>G (p.Tyr529Cys) c.*1454A>G (n.*1454A>G) c.1457A>G (p.Tyr486Cys) n.261-837T>C | |
3 | g.45496337A>T | CA352426780 | LARS2,LARS2-AS1 | c.1586A>T (p.Tyr529Phe) c.*1454A>T (n.*1454A>T) c.1457A>T (p.Tyr486Phe) n.261-837T>A | dbSNP |
3 | g.45496338C>A | CA352426783 | LARS2,LARS2-AS1 | c.1587C>A (p.Tyr529Ter) c.*1455C>A (n.*1455C>A) c.1458C>A (p.Tyr486Ter) n.261-838G>T | |
3 | g.45496338C= | CA1361699568 | LARS2,LARS2-AS1 | c.1587C= (p.Tyr529=) c.*1455C= (n.*1455C=) c.1458C= (p.Tyr486=) n.261-838G= | |
3 | g.45496338C>G | CA352426784 | LARS2,LARS2-AS1 | c.1587C>G (p.Tyr529Ter) c.*1455C>G (n.*1455C>G) c.1458C>G (p.Tyr486Ter) n.261-838G>C | gnomAD v4 |
3 | g.45496338C>T | CA433434506 | LARS2,LARS2-AS1 | c.1587C>T (p.Tyr529=) c.*1455C>T (n.*1455C>T) c.1458C>T (p.Tyr486=) n.261-838G>A | dbSNP |
3 | g.45496339T>A | CA352426785 | LARS2,LARS2-AS1 | c.1588T>A (p.Tyr530Asn) c.*1456T>A (n.*1456T>A) c.1459T>A (p.Tyr487Asn) n.261-839A>T | gnomAD v4 |
3 | g.45496339T>C | CA352426786 | LARS2,LARS2-AS1 | c.1588T>C (p.Tyr530His) c.*1456T>C (n.*1456T>C) c.1459T>C (p.Tyr487His) n.261-839A>G | |
3 | g.45496339T>G | CA352426787 | LARS2,LARS2-AS1 | c.1588T>G (p.Tyr530Asp) c.*1456T>G (n.*1456T>G) c.1459T>G (p.Tyr487Asp) n.261-839A>C |