Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.45476408G>ACA2665386298LARS2c.859-60G>A (n.859-60G>A)
c.*727-60G>A (n.*727-60G>A)
c.730-60G>A (n.730-60G>A)
 gnomAD v4
3g.45476409A=CA1361691318LARS2c.859-59A= (n.859-59A=)
c.*727-59A= (n.*727-59A=)
c.730-59A= (n.730-59A=)
3g.45476409A>GCA1361691319LARS2c.859-59A>G (n.859-59A>G)
c.*727-59A>G (n.*727-59A>G)
c.730-59A>G (n.730-59A>G)
 dbSNP gnomAD v4
3g.45476410G>ACA2665386299LARS2c.859-58G>A (n.859-58G>A)
c.*727-58G>A (n.*727-58G>A)
c.730-58G>A (n.730-58G>A)
 gnomAD v4
3g.45476410_45476411delinsGCCA1361691320LARS2c.859-58_859-57delinsGC (n.859-58_859-57delinsGC)
c.*727-58_*727-57delinsGC (n.*727-58_*727-57delinsGC)
c.730-58_730-57delinsGC (n.730-58_730-57delinsGC)
3g.45476411delCA907481082LARS2c.859-57del (n.859-57del)
c.*727-57del (n.*727-57del)
c.730-57del (n.730-57del)
 dbSNP gnomAD v3 gnomAD v4
3g.45476411C>TCA2665386300LARS2c.859-57C>T (n.859-57C>T)
c.*727-57C>T (n.*727-57C>T)
c.730-57C>T (n.730-57C>T)
 gnomAD v4
3g.45476414C>ACA2665386301LARS2c.859-54C>A (n.859-54C>A)
c.*727-54C>A (n.*727-54C>A)
c.730-54C>A (n.730-54C>A)
 gnomAD v4
3g.45476414C=CA1361691321LARS2c.859-54C= (n.859-54C=)
c.*727-54C= (n.*727-54C=)
c.730-54C= (n.730-54C=)
3g.45476414C>GCA2665386302LARS2c.859-54C>G (n.859-54C>G)
c.*727-54C>G (n.*727-54C>G)
c.730-54C>G (n.730-54C>G)
 gnomAD v4
3g.45476414C>TCA907481095LARS2c.859-54C>T (n.859-54C>T)
c.*727-54C>T (n.*727-54C>T)
c.730-54C>T (n.730-54C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.45476415A>TCA2577571002LARS2c.859-53A>T (n.859-53A>T)
c.*727-53A>T (n.*727-53A>T)
c.730-53A>T (n.730-53A>T)
3g.45476416C>ACA2577571003LARS2c.859-52C>A (n.859-52C>A)
c.*727-52C>A (n.*727-52C>A)
c.730-52C>A (n.730-52C>A)
 gnomAD v4
3g.45476416C=CA1361691322LARS2c.859-52C= (n.859-52C=)
c.*727-52C= (n.*727-52C=)
c.730-52C= (n.730-52C=)
3g.45476416C>TCA1361691323LARS2c.859-52C>T (n.859-52C>T)
c.*727-52C>T (n.*727-52C>T)
c.730-52C>T (n.730-52C>T)
 dbSNP
3g.45476418G>ACA2665386303LARS2c.859-50G>A (n.859-50G>A)
c.*727-50G>A (n.*727-50G>A)
c.730-50G>A (n.730-50G>A)
 gnomAD v4
3g.45476418G>TCA2665386304LARS2c.859-50G>T (n.859-50G>T)
c.*727-50G>T (n.*727-50G>T)
c.730-50G>T (n.730-50G>T)
 gnomAD v4
3g.45476419C>ACA2665386305LARS2c.859-49C>A (n.859-49C>A)
c.*727-49C>A (n.*727-49C>A)
c.730-49C>A (n.730-49C>A)
 gnomAD v4
3g.45476420C>ACA2665386306LARS2c.859-48C>A (n.859-48C>A)
c.*727-48C>A (n.*727-48C>A)
c.730-48C>A (n.730-48C>A)
 gnomAD v4
3g.45476423A>GCA2665386307LARS2c.859-45A>G (n.859-45A>G)
c.*727-45A>G (n.*727-45A>G)
c.730-45A>G (n.730-45A>G)
 gnomAD v4
3g.45476424A=CA1361691324LARS2c.859-44A= (n.859-44A=)
c.*727-44A= (n.*727-44A=)
c.730-44A= (n.730-44A=)
3g.45476424A>GCA2349430LARS2c.859-44A>G (n.859-44A>G)
c.*727-44A>G (n.*727-44A>G)
c.730-44A>G (n.730-44A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476428A=CA1361691325LARS2c.859-40A= (n.859-40A=)
c.*727-40A= (n.*727-40A=)
c.730-40A= (n.730-40A=)
3g.45476428A>GCA1047458868LARS2c.859-40A>G (n.859-40A>G)
c.*727-40A>G (n.*727-40A>G)
c.730-40A>G (n.730-40A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.45476429G>ACA1361691327LARS2c.859-39G>A (n.859-39G>A)
c.*727-39G>A (n.*727-39G>A)
c.730-39G>A (n.730-39G>A)
 dbSNP
3g.45476429G=CA1361691326LARS2c.859-39G= (n.859-39G=)
c.*727-39G= (n.*727-39G=)
c.730-39G= (n.730-39G=)
3g.45476429G>TCA2577571004LARS2c.859-39G>T (n.859-39G>T)
c.*727-39G>T (n.*727-39G>T)
c.730-39G>T (n.730-39G>T)
3g.45476432C>ACA2665386308LARS2c.859-36C>A (n.859-36C>A)
c.*727-36C>A (n.*727-36C>A)
c.730-36C>A (n.730-36C>A)
 gnomAD v4
3g.45476432C>GCA2702782412LARS2c.859-36C>G (n.859-36C>G)
c.*727-36C>G (n.*727-36C>G)
c.730-36C>G (n.730-36C>G)
 dbSNP
3g.45476432C>TCA2665386309LARS2c.859-36C>T (n.859-36C>T)
c.*727-36C>T (n.*727-36C>T)
c.730-36C>T (n.730-36C>T)
 gnomAD v4
3g.45476434G>TCA2546203300LARS2c.859-34G>T (n.859-34G>T)
c.*727-34G>T (n.*727-34G>T)
c.730-34G>T (n.730-34G>T)
3g.45476435A=CA1361691328LARS2c.859-33A= (n.859-33A=)
c.*727-33A= (n.*727-33A=)
c.730-33A= (n.730-33A=)
3g.45476435A>GCA73581209LARS2c.859-33A>G (n.859-33A>G)
c.*727-33A>G (n.*727-33A>G)
c.730-33A>G (n.730-33A>G)
 dbSNP gnomAD v4
3g.45476436G=CA1361691330LARS2c.859-32G= (n.859-32G=)
c.*727-32G= (n.*727-32G=)
c.730-32G= (n.730-32G=)
3g.45476436G>TCA1361691329LARS2c.859-32G>T (n.859-32G>T)
c.*727-32G>T (n.*727-32G>T)
c.730-32G>T (n.730-32G>T)
 dbSNP
3g.45476436_45476438delinsGAACA1361691331LARS2c.859-32_859-30delinsGAA (n.859-32_859-30delinsGAA)
c.*727-32_*727-30delinsGAA (n.*727-32_*727-30delinsGAA)
c.730-32_730-30delinsGAA (n.730-32_730-30delinsGAA)
3g.45476438_45476439delCA2349431LARS2c.859-30_859-29del (n.859-30_859-29del)
c.*727-30_*727-29del (n.*727-30_*727-29del)
c.730-30_730-29del (n.730-30_730-29del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476441G>ACA2665386310LARS2c.859-27G>A (n.859-27G>A)
c.*727-27G>A (n.*727-27G>A)
c.730-27G>A (n.730-27G>A)
 gnomAD v4
3g.45476441G=CA1361691332LARS2c.859-27G= (n.859-27G=)
c.*727-27G= (n.*727-27G=)
c.730-27G= (n.730-27G=)
3g.45476441G>TCA543040645LARS2c.859-27G>T (n.859-27G>T)
c.*727-27G>T (n.*727-27G>T)
c.730-27G>T (n.730-27G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.45476443C=CA1361691333LARS2c.859-25C= (n.859-25C=)
c.*727-25C= (n.*727-25C=)
c.730-25C= (n.730-25C=)
3g.45476443C>TCA907481109LARS2c.859-25C>T (n.859-25C>T)
c.*727-25C>T (n.*727-25C>T)
c.730-25C>T (n.730-25C>T)
 dbSNP gnomAD v4
3g.45476444A=CA1361691334LARS2c.859-24A= (n.859-24A=)
c.*727-24A= (n.*727-24A=)
c.730-24A= (n.730-24A=)
3g.45476444A>GCA907481111LARS2c.859-24A>G (n.859-24A>G)
c.*727-24A>G (n.*727-24A>G)
c.730-24A>G (n.730-24A>G)
 dbSNP gnomAD v4
3g.45476445T>ACA2665386311LARS2c.859-23T>A (n.859-23T>A)
c.*727-23T>A (n.*727-23T>A)
c.730-23T>A (n.730-23T>A)
 gnomAD v4
3g.45476445T>CCA2349432LARS2c.859-23T>C (n.859-23T>C)
c.*727-23T>C (n.*727-23T>C)
c.730-23T>C (n.730-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476445T=CA1361691335LARS2c.859-23T= (n.859-23T=)
c.*727-23T= (n.*727-23T=)
c.730-23T= (n.730-23T=)
3g.45476446C=CA1361691336LARS2c.859-22C= (n.859-22C=)
c.*727-22C= (n.*727-22C=)
c.730-22C= (n.730-22C=)
3g.45476446C>GCA1361691337LARS2c.859-22C>G (n.859-22C>G)
c.*727-22C>G (n.*727-22C>G)
c.730-22C>G (n.730-22C>G)
 dbSNP
3g.45476446C>TCA543040646LARS2c.859-22C>T (n.859-22C>T)
c.*727-22C>T (n.*727-22C>T)
c.730-22C>T (n.730-22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.45476447A=CA1361691338LARS2c.859-21A= (n.859-21A=)
c.*727-21A= (n.*727-21A=)
c.730-21A= (n.730-21A=)
3g.45476447A>CCA1361691339LARS2c.859-21A>C (n.859-21A>C)
c.*727-21A>C (n.*727-21A>C)
c.730-21A>C (n.730-21A>C)
 dbSNP
3g.45476447A>GCA2665386312LARS2c.859-21A>G (n.859-21A>G)
c.*727-21A>G (n.*727-21A>G)
c.730-21A>G (n.730-21A>G)
 gnomAD v4
3g.45476448C=CA1361691340LARS2c.859-20C= (n.859-20C=)
c.*727-20C= (n.*727-20C=)
c.730-20C= (n.730-20C=)
3g.45476448C>TCA543040647LARS2c.859-20C>T (n.859-20C>T)
c.*727-20C>T (n.*727-20C>T)
c.730-20C>T (n.730-20C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.45476450C>ACA2349433LARS2c.859-18C>A (n.859-18C>A)
c.*727-18C>A (n.*727-18C>A)
c.730-18C>A (n.730-18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476450C=CA1361691341LARS2c.859-18C= (n.859-18C=)
c.*727-18C= (n.*727-18C=)
c.730-18C= (n.730-18C=)
3g.45476453C>TCA2665386313LARS2c.859-15C>T (n.859-15C>T)
c.*727-15C>T (n.*727-15C>T)
c.730-15C>T (n.730-15C>T)
 gnomAD v4
3g.45476454T>CCA2349434LARS2c.859-14T>C (n.859-14T>C)
c.*727-14T>C (n.*727-14T>C)
c.730-14T>C (n.730-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476454T=CA1361691342LARS2c.859-14T= (n.859-14T=)
c.*727-14T= (n.*727-14T=)
c.730-14T= (n.730-14T=)
3g.45476455T>CCA1361691344LARS2c.859-13T>C (n.859-13T>C)
c.*727-13T>C (n.*727-13T>C)
c.730-13T>C (n.730-13T>C)
 dbSNP gnomAD v4
3g.45476455T>GCA2665386314LARS2c.859-13T>G (n.859-13T>G)
c.*727-13T>G (n.*727-13T>G)
c.730-13T>G (n.730-13T>G)
 gnomAD v4
3g.45476455T=CA1361691343LARS2c.859-13T= (n.859-13T=)
c.*727-13T= (n.*727-13T=)
c.730-13T= (n.730-13T=)
3g.45476456T>ACA2577571005LARS2c.859-12T>A (n.859-12T>A)
c.*727-12T>A (n.*727-12T>A)
c.730-12T>A (n.730-12T>A)
3g.45476456T>CCA1361691346LARS2c.859-12T>C (n.859-12T>C)
c.*727-12T>C (n.*727-12T>C)
c.730-12T>C (n.730-12T>C)
 dbSNP
3g.45476456T=CA1361691345LARS2c.859-12T= (n.859-12T=)
c.*727-12T= (n.*727-12T=)
c.730-12T= (n.730-12T=)
3g.45476458C=CA1361691347LARS2c.859-10C= (n.859-10C=)
c.*727-10C= (n.*727-10C=)
c.730-10C= (n.730-10C=)
3g.45476458C>TCA2349435LARS2c.859-10C>T (n.859-10C>T)
c.*727-10C>T (n.*727-10C>T)
c.730-10C>T (n.730-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476460A=CA1361691348LARS2c.859-8A= (n.859-8A=)
c.*727-8A= (n.*727-8A=)
c.730-8A= (n.730-8A=)
3g.45476460A>GCA543040648LARS2c.859-8A>G (n.859-8A>G)
c.*727-8A>G (n.*727-8A>G)
c.730-8A>G (n.730-8A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.45476460A>TCA2349436LARS2c.859-8A>T (n.859-8A>T)
c.*727-8A>T (n.*727-8A>T)
c.730-8A>T (n.730-8A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476461T>CCA2702782459LARS2c.859-7T>C (n.859-7T>C)
c.*727-7T>C (n.*727-7T>C)
c.730-7T>C (n.730-7T>C)
 dbSNP
3g.45476489_45476490insCTCACCAGGTTCATGGGCAAGCCACGGGCGCA2665386315LARS2c.880_881insCTCACCAGGTTCATGGGCAAGCCACGGGCG
c.*748_*749insCTCACCAGGTTCATGGGCAAGCCACGGGCG
c.751_752insCTCACCAGGTTCATGGGCAAGCCACGGGCG
 gnomAD v4
3g.45476463A=CA1361691349LARS2c.859-5A= (n.859-5A=)
c.*727-5A= (n.*727-5A=)
c.730-5A= (n.730-5A=)
3g.45476463A>CCA1361691350LARS2c.859-5A>C (n.859-5A>C)
c.*727-5A>C (n.*727-5A>C)
c.730-5A>C (n.730-5A>C)
 dbSNP
3g.45476463A>GCA907481145LARS2c.859-5A>G (n.859-5A>G)
c.*727-5A>G (n.*727-5A>G)
c.730-5A>G (n.730-5A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.45476465C=CA1361691351LARS2c.859-3C= (n.859-3C=)
c.*727-3C= (n.*727-3C=)
c.730-3C= (n.730-3C=)
3g.45476465C>TCA1047458877LARS2c.859-3C>T (n.859-3C>T)
c.*727-3C>T (n.*727-3C>T)
c.730-3C>T (n.730-3C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.45476466A>CCA352423474LARS2c.859-2A>C (n.859-2A>C)
c.*727-2A>C (n.*727-2A>C)
c.730-2A>C (n.730-2A>C)
3g.45476466A>GCA352423476LARS2c.859-2A>G (n.859-2A>G)
c.*727-2A>G (n.*727-2A>G)
c.730-2A>G (n.730-2A>G)
 gnomAD v4
3g.45476466A>TCA352423478LARS2c.859-2A>T (n.859-2A>T)
c.*727-2A>T (n.*727-2A>T)
c.730-2A>T (n.730-2A>T)
3g.45476467G>ACA352423483LARS2c.859-1G>A (n.859-1G>A)
c.*727-1G>A (n.*727-1G>A)
c.730-1G>A (n.730-1G>A)
3g.45476467G>CCA352423481LARS2c.859-1G>C (n.859-1G>C)
c.*727-1G>C (n.*727-1G>C)
c.730-1G>C (n.730-1G>C)
3g.45476467G>TCA352423480LARS2c.859-1G>T (n.859-1G>T)
c.*727-1G>T (n.*727-1G>T)
c.730-1G>T (n.730-1G>T)
3g.45476468G>ACA73581250LARS2c.859G>A (p.Val287Ile)
c.*727G>A (n.*727G>A)
c.730G>A (p.Val244Ile)
 dbSNP gnomAD v4
3g.45476468G>CCA352423485LARS2c.859G>C (p.Val287Leu)
c.*727G>C (n.*727G>C)
c.730G>C (p.Val244Leu)
3g.45476468G=CA1361691352LARS2c.859G= (p.Val287=)
c.*727G= (n.*727G=)
c.730G= (p.Val244=)
3g.45476468G>TCA352423487LARS2c.859G>T (p.Val287Phe)
c.*727G>T (n.*727G>T)
c.730G>T (p.Val244Phe)
3g.45476469T>ACA352423489LARS2c.860T>A (p.Val287Asp)
c.*728T>A (n.*728T>A)
c.731T>A (p.Val244Asp)
3g.45476469T>CCA352423490LARS2c.860T>C (p.Val287Ala)
c.*728T>C (n.*728T>C)
c.731T>C (p.Val244Ala)
3g.45476469T>GCA352423491LARS2c.860T>G (p.Val287Gly)
c.*728T>G (n.*728T>G)
c.731T>G (p.Val244Gly)
3g.45476470T>ACA433432992LARS2c.861T>A (p.Val287=)
c.*729T>A (n.*729T>A)
c.732T>A (p.Val244=)
3g.45476470T>CCA433432993LARS2c.861T>C (p.Val287=)
c.*729T>C (n.*729T>C)
c.732T>C (p.Val244=)
3g.45476470T>GCA433432994LARS2c.861T>G (p.Val287=)
c.*729T>G (n.*729T>G)
c.732T>G (p.Val244=)
3g.45476471C>ACA352423493LARS2c.862C>A (p.His288Asn)
c.*730C>A (n.*730C>A)
c.733C>A (p.His245Asn)
3g.45476471C=CA1361691353LARS2c.862C= (p.His288=)
c.*730C= (n.*730C=)
c.733C= (p.His245=)
3g.45476471C>GCA2349437LARS2c.862C>G (p.His288Asp)
c.*730C>G (n.*730C>G)
c.733C>G (p.His245Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476471C>TCA352423496LARS2c.862C>T (p.His288Tyr)
c.*730C>T (n.*730C>T)
c.733C>T (p.His245Tyr)
3g.45476472A=CA1361691354LARS2c.863A= (p.His288=)
c.*731A= (n.*731A=)
c.734A= (p.His245=)
3g.45476472A>CCA352423497LARS2c.863A>C (p.His288Pro)
c.*731A>C (n.*731A>C)
c.734A>C (p.His245Pro)
3g.45476472A>GCA2349439LARS2c.863A>G (p.His288Arg)
c.*731A>G (n.*731A>G)
c.734A>G (p.His245Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476472A>TCA2349438LARS2c.863A>T (p.His288Leu)
c.*731A>T (n.*731A>T)
c.734A>T (p.His245Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476473T>ACA352423501LARS2c.864T>A (p.His288Gln)
c.*732T>A (n.*732T>A)
c.735T>A (p.His245Gln)
3g.45476473T>CCA2349440LARS2c.864T>C (p.His288=)
c.*732T>C (n.*732T>C)
c.735T>C (p.His245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.45476473T>GCA352423502LARS2c.864T>G (p.His288Gln)
c.*732T>G (n.*732T>G)
c.735T>G (p.His245Gln)
 dbSNP
3g.45476473T=CA1361691355LARS2c.864T= (p.His288=)
c.*732T= (n.*732T=)
c.735T= (p.His245=)
3g.45476474G>ACA352423504LARS2c.865G>A (p.Gly289Arg)
c.*733G>A (n.*733G>A)
c.736G>A (p.Gly246Arg)
3g.45476474G>CCA352423507LARS2c.865G>C (p.Gly289Arg)
c.*733G>C (n.*733G>C)
c.736G>C (p.Gly246Arg)
3g.45476474G>TCA352423505LARS2c.865G>T (p.Gly289Trp)
c.*733G>T (n.*733G>T)
c.736G>T (p.Gly246Trp)
3g.45476475G>ACA352423509LARS2c.866G>A (p.Gly289Glu)
c.*734G>A (n.*734G>A)
c.737G>A (p.Gly246Glu)
 dbSNP
3g.45476475G>CCA352423511LARS2c.866G>C (p.Gly289Ala)
c.*734G>C (n.*734G>C)
c.737G>C (p.Gly246Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.45476475G=CA1361691356LARS2c.866G= (p.Gly289=)
c.*734G= (n.*734G=)
c.737G= (p.Gly246=)
3g.45476475G>TCA352423512LARS2c.866G>T (p.Gly289Val)
c.*734G>T (n.*734G>T)
c.737G>T (p.Gly246Val)
3g.45476476G>ACA433432995LARS2c.867G>A (p.Gly289=)
c.*735G>A (n.*735G>A)
c.738G>A (p.Gly246=)
3g.45476476G>CCA433432996LARS2c.867G>C (p.Gly289=)
c.*735G>C (n.*735G>C)
c.738G>C (p.Gly246=)
3g.45476476G>TCA433432997LARS2c.867G>T (p.Gly289=)
c.*735G>T (n.*735G>T)
c.738G>T (p.Gly246=)
3g.45476477C>ACA352423514LARS2c.868C>A (p.Gln290Lys)
c.*736C>A (n.*736C>A)
c.739C>A (p.Gln247Lys)
3g.45476477C=CA1361691357LARS2c.868C= (p.Gln290=)
c.*736C= (n.*736C=)
c.739C= (p.Gln247=)
3g.45476477C>GCA352423516LARS2c.868C>G (p.Gln290Glu)
c.*736C>G (n.*736C>G)
c.739C>G (p.Gln247Glu)
3g.45476477C>TCA73581280LARS2c.868C>T (p.Gln290Ter)
c.*736C>T (n.*736C>T)
c.739C>T (p.Gln247Ter)
 dbSNP
3g.45476478A>CCA352423518LARS2c.869A>C (p.Gln290Pro)
c.*737A>C (n.*737A>C)
c.740A>C (p.Gln247Pro)
3g.45476478A>GCA352423520LARS2c.869A>G (p.Gln290Arg)
c.*737A>G (n.*737A>G)
c.740A>G (p.Gln247Arg)
3g.45476478A>TCA352423522LARS2c.869A>T (p.Gln290Leu)
c.*737A>T (n.*737A>T)
c.740A>T (p.Gln247Leu)
3g.45476479A>CCA352423523LARS2c.870A>C (p.Gln290His)
c.*738A>C (n.*738A>C)
c.741A>C (p.Gln247His)
3g.45476479A>GCA433432998LARS2c.870A>G (p.Gln290=)
c.*738A>G (n.*738A>G)
c.741A>G (p.Gln247=)
3g.45476479A>TCA352423525LARS2c.870A>T (p.Gln290His)
c.*738A>T (n.*738A>T)
c.741A>T (p.Gln247His)
3g.45476480G>ACA352423530LARS2c.871G>A (p.Ala291Thr)
c.*739G>A (n.*739G>A)
c.742G>A (p.Ala248Thr)
3g.45476480G>CCA352423527LARS2c.871G>C (p.Ala291Pro)
c.*739G>C (n.*739G>C)
c.742G>C (p.Ala248Pro)
3g.45476480G>TCA352423529LARS2c.871G>T (p.Ala291Ser)
c.*739G>T (n.*739G>T)
c.742G>T (p.Ala248Ser)
3g.45476481C>ACA352423532LARS2c.872C>A (p.Ala291Asp)
c.*740C>A (n.*740C>A)
c.743C>A (p.Ala248Asp)
3g.45476481C>GCA352423533LARS2c.872C>G (p.Ala291Gly)
c.*740C>G (n.*740C>G)
c.743C>G (p.Ala248Gly)
3g.45476481C>TCA352423535LARS2c.872C>T (p.Ala291Val)
c.*740C>T (n.*740C>T)
c.743C>T (p.Ala248Val)
3g.45476482C>ACA433432999LARS2c.873C>A (p.Ala291=)
c.*741C>A (n.*741C>A)
c.744C>A (p.Ala248=)
3g.45476482C>GCA433433000LARS2c.873C>G (p.Ala291=)
c.*741C>G (n.*741C>G)
c.744C>G (p.Ala248=)
3g.45476482C>TCA433433001LARS2c.873C>T (p.Ala291=)
c.*741C>T (n.*741C>T)
c.744C>T (p.Ala248=)
3g.45476483A>CCA352423537LARS2c.874A>C (p.Thr292Pro)
c.*742A>C (n.*742A>C)
c.745A>C (p.Thr249Pro)
3g.45476483A>GCA352423538LARS2c.874A>G (p.Thr292Ala)
c.*742A>G (n.*742A>G)
c.745A>G (p.Thr249Ala)
 gnomAD v4
3g.45476483A>TCA352423540LARS2c.874A>T (p.Thr292Ser)
c.*742A>T (n.*742A>T)
c.745A>T (p.Thr249Ser)
3g.45476484C>ACA352423542LARS2c.875C>A (p.Thr292Lys)
c.*743C>A (n.*743C>A)
c.746C>A (p.Thr249Lys)
3g.45476484C=CA1361691358LARS2c.875C= (p.Thr292=)
c.*743C= (n.*743C=)
c.746C= (p.Thr249=)
3g.45476484C>GCA352423544LARS2c.875C>G (p.Thr292Arg)
c.*743C>G (n.*743C>G)
c.746C>G (p.Thr249Arg)
3g.45476484C>TCA352423545LARS2c.875C>T (p.Thr292Met)
c.*743C>T (n.*743C>T)
c.746C>T (p.Thr249Met)
 dbSNP gnomAD v4
3g.45476485G>ACA2349441LARS2c.876G>A (p.Thr292=)
c.*744G>A (n.*744G>A)
c.747G>A (p.Thr249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476485G>CCA433433002LARS2c.876G>C (p.Thr292=)
c.*744G>C (n.*744G>C)
c.747G>C (p.Thr249=)
3g.45476485G=CA1361691359LARS2c.876G= (p.Thr292=)
c.*744G= (n.*744G=)
c.747G= (p.Thr249=)
3g.45476485G>TCA433433003LARS2c.876G>T (p.Thr292=)
c.*744G>T (n.*744G>T)
c.747G>T (p.Thr249=)
 COSMIC
3g.45476486G>ACA352423550LARS2c.877G>A (p.Gly293Ser)
c.*745G>A (n.*745G>A)
c.748G>A (p.Gly250Ser)
3g.45476486G>CCA352423551LARS2c.877G>C (p.Gly293Arg)
c.*745G>C (n.*745G>C)
c.748G>C (p.Gly250Arg)
3g.45476486G>TCA352423548LARS2c.877G>T (p.Gly293Cys)
c.*745G>T (n.*745G>T)
c.748G>T (p.Gly250Cys)
3g.45476487G>ACA352423552LARS2c.878G>A (p.Gly293Asp)
c.*746G>A (n.*746G>A)
c.749G>A (p.Gly250Asp)
3g.45476487G>CCA352423554LARS2c.878G>C (p.Gly293Ala)
c.*746G>C (n.*746G>C)
c.749G>C (p.Gly250Ala)
3g.45476487G>TCA352423555LARS2c.878G>T (p.Gly293Val)
c.*746G>T (n.*746G>T)
c.749G>T (p.Gly250Val)
3g.45476488C>ACA2349442LARS2c.879C>A (p.Gly293=)
c.*747C>A (n.*747C>A)
c.750C>A (p.Gly250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476488C=CA1361691360LARS2c.879C= (p.Gly293=)
c.*747C= (n.*747C=)
c.750C= (p.Gly250=)
3g.45476488C>GCA433433004LARS2c.879C>G (p.Gly293=)
c.*747C>G (n.*747C>G)
c.750C>G (p.Gly250=)
3g.45476488C>TCA2349443LARS2c.879C>T (p.Gly293=)
c.*747C>T (n.*747C>T)
c.750C>T (p.Gly250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476489G>ACA2349444LARS2c.880G>A (p.Glu294Lys)
c.*748G>A (n.*748G>A)
c.751G>A (p.Glu251Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476489G>CCA352423558LARS2c.880G>C (p.Glu294Gln)
c.*748G>C (n.*748G>C)
c.751G>C (p.Glu251Gln)
3g.45476489G=CA1361691361LARS2c.880G= (p.Glu294=)
c.*748G= (n.*748G=)
c.751G= (p.Glu251=)
3g.45476489G>TCA352423560LARS2c.880G>T (p.Glu294Ter)
c.*748G>T (n.*748G>T)
c.751G>T (p.Glu251Ter)
3g.45476490A>CCA352423561LARS2c.881A>C (p.Glu294Ala)
c.*749A>C (n.*749A>C)
c.752A>C (p.Glu251Ala)
3g.45476490A>GCA352423563LARS2c.881A>G (p.Glu294Gly)
c.*749A>G (n.*749A>G)
c.752A>G (p.Glu251Gly)
3g.45476490A>TCA352423564LARS2c.881A>T (p.Glu294Val)
c.*749A>T (n.*749A>T)
c.752A>T (p.Glu251Val)
3g.45476493delCA2665386316LARS2c.884del (p.Lys295SerfsTer2)
c.*752del (n.*752del)
c.755del (p.Lys252SerfsTer2)
 gnomAD v4
3g.45476491A>CCA352423566LARS2c.882A>C (p.Glu294Asp)
c.*750A>C (n.*750A>C)
c.753A>C (p.Glu251Asp)
3g.45476491A>GCA433433005LARS2c.882A>G (p.Glu294=)
c.*750A>G (n.*750A>G)
c.753A>G (p.Glu251=)
3g.45476491A>TCA352423568LARS2c.882A>T (p.Glu294Asp)
c.*750A>T (n.*750A>T)
c.753A>T (p.Glu251Asp)
3g.45476492A>CCA352423571LARS2c.883A>C (p.Lys295Gln)
c.*751A>C (n.*751A>C)
c.754A>C (p.Lys252Gln)
3g.45476492A>GCA352423570LARS2c.883A>G (p.Lys295Glu)
c.*751A>G (n.*751A>G)
c.754A>G (p.Lys252Glu)
3g.45476492A>TCA352423569LARS2c.883A>T (p.Lys295Ter)
c.*751A>T (n.*751A>T)
c.754A>T (p.Lys252Ter)
3g.45476493A>CCA352423573LARS2c.884A>C (p.Lys295Thr)
c.*752A>C (n.*752A>C)
c.755A>C (p.Lys252Thr)
 gnomAD v4
3g.45476493A>GCA352423574LARS2c.884A>G (p.Lys295Arg)
c.*752A>G (n.*752A>G)
c.755A>G (p.Lys252Arg)
3g.45476493A>TCA352423575LARS2c.884A>T (p.Lys295Met)
c.*752A>T (n.*752A>T)
c.755A>T (p.Lys252Met)
3g.45476494G>ACA433433006LARS2c.885G>A (p.Lys295=)
c.*753G>A (n.*753G>A)
c.756G>A (p.Lys252=)
3g.45476494G>CCA352423576LARS2c.885G>C (p.Lys295Asn)
c.*753G>C (n.*753G>C)
c.756G>C (p.Lys252Asn)
3g.45476494G>TCA352423578LARS2c.885G>T (p.Lys295Asn)
c.*753G>T (n.*753G>T)
c.756G>T (p.Lys252Asn)
3g.45476495C>ACA352423580LARS2c.886C>A (p.Leu296Met)
c.*754C>A (n.*754C>A)
c.757C>A (p.Leu253Met)
3g.45476495C>GCA352423582LARS2c.886C>G (p.Leu296Val)
c.*754C>G (n.*754C>G)
c.757C>G (p.Leu253Val)
 gnomAD v4
3g.45476495C>TCA433433007LARS2c.886C>T (p.Leu296=)
c.*754C>T (n.*754C>T)
c.757C>T (p.Leu253=)
3g.45476496T>ACA352423584LARS2c.887T>A (p.Leu296Gln)
c.*755T>A (n.*755T>A)
c.758T>A (p.Leu253Gln)
3g.45476496T>CCA352423585LARS2c.887T>C (p.Leu296Pro)
c.*755T>C (n.*755T>C)
c.758T>C (p.Leu253Pro)
3g.45476496T>GCA352423587LARS2c.887T>G (p.Leu296Arg)
c.*755T>G (n.*755T>G)
c.758T>G (p.Leu253Arg)
3g.45476497G>ACA433433008LARS2c.888G>A (p.Leu296=)
c.*756G>A (n.*756G>A)
c.759G>A (p.Leu253=)
3g.45476497G>CCA433433009LARS2c.888G>C (p.Leu296=)
c.*756G>C (n.*756G>C)
c.759G>C (p.Leu253=)
3g.45476497G>TCA433433010LARS2c.888G>T (p.Leu296=)
c.*756G>T (n.*756G>T)
c.759G>T (p.Leu253=)
3g.45476497_45476506delinsGACTGCCTATCA1361691362LARS2c.888_897delinsGACTGCCTAT (p.Leu296=)
c.*756_*765delinsGACTGCCTAT (n.*756_*765delinsGACTGCCTAT)
c.759_768delinsGACTGCCTAT (p.Leu253=)
3g.45476498A=CA1361691363LARS2c.889A= (p.Thr297=)
c.*757A= (n.*757A=)
c.760A= (p.Thr254=)
3g.45476498A>CCA352423589LARS2c.889A>C (p.Thr297Pro)
c.*757A>C (n.*757A>C)
c.760A>C (p.Thr254Pro)
3g.45476498A>GCA352423590LARS2c.889A>G (p.Thr297Ala)
c.*757A>G (n.*757A>G)
c.760A>G (p.Thr254Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.45476498A>TCA352423592LARS2c.889A>T (p.Thr297Ser)
c.*757A>T (n.*757A>T)
c.760A>T (p.Thr254Ser)
3g.45476500_45476508delCA1047458894LARS2c.891_899del (p.Ala298_Thr300del)
c.*759_*767del (n.*759_*767del)
c.762_770del (p.Ala255_Thr257del)
 dbSNP gnomAD v3 gnomAD v4
3g.45476499C>ACA352423595LARS2c.890C>A (p.Thr297Asn)
c.*758C>A (n.*758C>A)
c.761C>A (p.Thr254Asn)
3g.45476499C=CA1361691364LARS2c.890C= (p.Thr297=)
c.*758C= (n.*758C=)
c.761C= (p.Thr254=)
3g.45476499C>GCA352423596LARS2c.890C>G (p.Thr297Ser)
c.*758C>G (n.*758C>G)
c.761C>G (p.Thr254Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.45476499C>TCA352423593LARS2c.890C>T (p.Thr297Ile)
c.*758C>T (n.*758C>T)
c.761C>T (p.Thr254Ile)
3g.45476500T>ACA433433011LARS2c.891T>A (p.Thr297=)
c.*759T>A (n.*759T>A)
c.762T>A (p.Thr254=)
3g.45476500T>CCA433433012LARS2c.891T>C (p.Thr297=)
c.*759T>C (n.*759T>C)
c.762T>C (p.Thr254=)
3g.45476500T>GCA433433013LARS2c.891T>G (p.Thr297=)
c.*759T>G (n.*759T>G)
c.762T>G (p.Thr254=)
 dbSNP
3g.45476500T=CA1361691365LARS2c.891T= (p.Thr297=)
c.*759T= (n.*759T=)
c.762T= (p.Thr254=)
3g.45476501G>ACA352423598LARS2c.892G>A (p.Ala298Thr)
c.*760G>A (n.*760G>A)
c.763G>A (p.Ala255Thr)
3g.45476501G>CCA352423597LARS2c.892G>C (p.Ala298Pro)
c.*760G>C (n.*760G>C)
c.763G>C (p.Ala255Pro)
3g.45476501G>TCA352423600LARS2c.892G>T (p.Ala298Ser)
c.*760G>T (n.*760G>T)
c.763G>T (p.Ala255Ser)
3g.45476501_45476514delinsGCCTATACGGCCACCA1361691366LARS2c.892_905delinsGCCTATACGGCCAC (p.Ala298=)
c.*760_*773delinsGCCTATACGGCCAC (n.*760_*773delinsGCCTATACGGCCAC)
c.763_776delinsGCCTATACGGCCAC (p.Ala255=)
3g.45476502C>ACA352423601LARS2c.893C>A (p.Ala298Asp)
c.*761C>A (n.*761C>A)
c.764C>A (p.Ala255Asp)
3g.45476502C=CA1361691368LARS2c.893C= (p.Ala298=)
c.*761C= (n.*761C=)
c.764C= (p.Ala255=)
3g.45476502C>GCA352423605LARS2c.893C>G (p.Ala298Gly)
c.*761C>G (n.*761C>G)
c.764C>G (p.Ala255Gly)
3g.45476502C>TCA352423603LARS2c.893C>T (p.Ala298Val)
c.*761C>T (n.*761C>T)
c.764C>T (p.Ala255Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.45476504_45476516delCA1361691367LARS2c.895_907del (p.Tyr299LeufsTer25)
c.*763_*775del (n.*763_*775del)
c.766_778del (p.Tyr256LeufsTer25)
 dbSNP
3g.45476503C>ACA433433014LARS2c.894C>A (p.Ala298=)
c.*762C>A (n.*762C>A)
c.765C>A (p.Ala255=)
3g.45476503C>GCA433433015LARS2c.894C>G (p.Ala298=)
c.*762C>G (n.*762C>G)
c.765C>G (p.Ala255=)
3g.45476503C>TCA433433016LARS2c.894C>T (p.Ala298=)
c.*762C>T (n.*762C>T)
c.765C>T (p.Ala255=)
3g.45476504T>ACA352423606LARS2c.895T>A (p.Tyr299Asn)
c.*763T>A (n.*763T>A)
c.766T>A (p.Tyr256Asn)
3g.45476504T>CCA2349445LARS2c.895T>C (p.Tyr299His)
c.*763T>C (n.*763T>C)
c.766T>C (p.Tyr256His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.45476504T>GCA352423607LARS2c.895T>G (p.Tyr299Asp)
c.*763T>G (n.*763T>G)
c.766T>G (p.Tyr256Asp)
3g.45476504T=CA1361691369LARS2c.895T= (p.Tyr299=)
c.*763T= (n.*763T=)
c.766T= (p.Tyr256=)
3g.45476505A=CA1361691370LARS2c.896A= (p.Tyr299=)
c.*764A= (n.*764A=)
c.767A= (p.Tyr256=)
3g.45476505A>CCA352423609LARS2c.896A>C (p.Tyr299Ser)
c.*764A>C (n.*764A>C)
c.767A>C (p.Tyr256Ser)
3g.45476505A>GCA2349446LARS2c.896A>G (p.Tyr299Cys)
c.*764A>G (n.*764A>G)
c.767A>G (p.Tyr256Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.45476505A>TCA352423611LARS2c.896A>T (p.Tyr299Phe)
c.*764A>T (n.*764A>T)
c.767A>T (p.Tyr256Phe)
3g.45476506T>ACA352423613LARS2c.897T>A (p.Tyr299Ter)
c.*765T>A (n.*765T>A)
c.768T>A (p.Tyr256Ter)
3g.45476506T>CCA433433017LARS2c.897T>C (p.Tyr299=)
c.*765T>C (n.*765T>C)
c.768T>C (p.Tyr256=)
3g.45476506T>GCA352423615LARS2c.897T>G (p.Tyr299Ter)
c.*765T>G (n.*765T>G)
c.768T>G (p.Tyr256Ter)
3g.45476507A>CCA352423617LARS2c.898A>C (p.Thr300Pro)
c.*766A>C (n.*766A>C)
c.769A>C (p.Thr257Pro)
 gnomAD v4
3g.45476507A>GCA352423619LARS2c.898A>G (p.Thr300Ala)
c.*766A>G (n.*766A>G)
c.769A>G (p.Thr257Ala)
3g.45476507A>TCA352423620LARS2c.898A>T (p.Thr300Ser)
c.*766A>T (n.*766A>T)
c.769A>T (p.Thr257Ser)
3g.45476508C>ACA352423622LARS2c.899C>A (p.Thr300Lys)
c.*767C>A (n.*767C>A)
c.770C>A (p.Thr257Lys)
 gnomAD v4
3g.45476508C=CA1361691371LARS2c.899C= (p.Thr300=)
c.*767C= (n.*767C=)
c.770C= (p.Thr257=)
3g.45476508C>GCA352423624LARS2c.899C>G (p.Thr300Arg)
c.*767C>G (n.*767C>G)
c.770C>G (p.Thr257Arg)
 dbSNP
3g.45476508C>TCA278778LARS2c.899C>T (p.Thr300Met)
c.*767C>T (n.*767C>T)
c.770C>T (p.Thr257Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched