Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101753417_101753418delCA275054GNPTABc.3560_3561del (p.Glu1187ValfsTer10)
c.458_459del (n.458_459del)
c.3479_3480del (p.Glu1160ValfsTer10)
c.3344_3345del (p.Glu1115ValfsTer10)
c.2333_2334del (p.Glu778ValfsTer10)
 ClinVar dbSNP ExAC gnomAD v4
12g.101753415C>ACA386292266GNPTABc.3559G>T (p.Glu1187Ter)
c.457G>T (n.457G>T)
c.3478G>T (p.Glu1160Ter)
c.3343G>T (p.Glu1115Ter)
c.2332G>T (p.Glu778Ter)
12g.101753415C>GCA386292267GNPTABc.3559G>C (p.Glu1187Gln)
c.457G>C (n.457G>C)
c.3478G>C (p.Glu1160Gln)
c.3343G>C (p.Glu1115Gln)
c.2332G>C (p.Glu778Gln)
12g.101753415C>TCA386292269GNPTABc.3559G>A (p.Glu1187Lys)
c.457G>A (n.457G>A)
c.3478G>A (p.Glu1160Lys)
c.3343G>A (p.Glu1115Lys)
c.2332G>A (p.Glu778Lys)
12g.101753416T>ACA386292271GNPTABc.3558A>T (p.Arg1186Ser)
c.456A>T (n.456A>T)
c.3477A>T (p.Arg1159Ser)
c.3342A>T (p.Arg1114Ser)
c.2331A>T (p.Arg777Ser)
12g.101753416T>CCA481317562GNPTABc.3558A>G (p.Arg1186=)
c.456A>G (n.456A>G)
c.3477A>G (p.Arg1159=)
c.3342A>G (p.Arg1114=)
c.2331A>G (p.Arg777=)
 ClinVar dbSNP
12g.101753416T>GCA386292273GNPTABc.3558A>C (p.Arg1186Ser)
c.456A>C (n.456A>C)
c.3477A>C (p.Arg1159Ser)
c.3342A>C (p.Arg1114Ser)
c.2331A>C (p.Arg777Ser)
12g.101753417C>ACA386292276GNPTABc.3557G>T (p.Arg1186Ile)
c.455G>T (n.455G>T)
c.3476G>T (p.Arg1159Ile)
c.3341G>T (p.Arg1114Ile)
c.2330G>T (p.Arg777Ile)
12g.101753417C>GCA386292278GNPTABc.3557G>C (p.Arg1186Thr)
c.455G>C (n.455G>C)
c.3476G>C (p.Arg1159Thr)
c.3341G>C (p.Arg1114Thr)
c.2330G>C (p.Arg777Thr)
12g.101753417C>TCA386292279GNPTABc.3557G>A (p.Arg1186Lys)
c.455G>A (n.455G>A)
c.3476G>A (p.Arg1159Lys)
c.3341G>A (p.Arg1114Lys)
c.2330G>A (p.Arg777Lys)
12g.101753418T>ACA386292280GNPTABc.3556A>T (p.Arg1186Ter)
c.454A>T (n.454A>T)
c.3475A>T (p.Arg1159Ter)
c.3340A>T (p.Arg1114Ter)
c.2329A>T (p.Arg777Ter)
12g.101753418T>CCA386292281GNPTABc.3556A>G (p.Arg1186Gly)
c.454A>G (n.454A>G)
c.3475A>G (p.Arg1159Gly)
c.3340A>G (p.Arg1114Gly)
c.2329A>G (p.Arg777Gly)
12g.101753418T>GCA481317566GNPTABc.3556A>C (p.Arg1186=)
c.454A>C (n.454A>C)
c.3475A>C (p.Arg1159=)
c.3340A>C (p.Arg1114=)
c.2329A>C (p.Arg777=)
12g.101753419T>ACA481317567GNPTABc.3555A>T (p.Pro1185=)
c.453A>T (n.453A>T)
c.3474A>T (p.Pro1158=)
c.3339A>T (p.Pro1113=)
c.2328A>T (p.Pro776=)
12g.101753419T>CCA6746119GNPTABc.3555A>G (p.Pro1185=)
c.453A>G (n.453A>G)
c.3474A>G (p.Pro1158=)
c.3339A>G (p.Pro1113=)
c.2328A>G (p.Pro776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753419T>GCA481317569GNPTABc.3555A>C (p.Pro1185=)
c.453A>C (n.453A>C)
c.3474A>C (p.Pro1158=)
c.3339A>C (p.Pro1113=)
c.2328A>C (p.Pro776=)
12g.101753419T=CA2058950551GNPTABc.3555A= (p.Pro1185=)
c.453A= (n.453A=)
c.3474A= (p.Pro1158=)
c.3339A= (p.Pro1113=)
c.2328A= (p.Pro776=)
12g.101753420G>ACA386292291GNPTABc.3554C>T (p.Pro1185Leu)
c.452C>T (n.452C>T)
c.3473C>T (p.Pro1158Leu)
c.3338C>T (p.Pro1113Leu)
c.2327C>T (p.Pro776Leu)
 dbSNP gnomAD v4
12g.101753420G>CCA386292284GNPTABc.3554C>G (p.Pro1185Arg)
c.452C>G (n.452C>G)
c.3473C>G (p.Pro1158Arg)
c.3338C>G (p.Pro1113Arg)
c.2327C>G (p.Pro776Arg)
12g.101753420G=CA2058950552GNPTABc.3554C= (p.Pro1185=)
c.452C= (n.452C=)
c.3473C= (p.Pro1158=)
c.3338C= (p.Pro1113=)
c.2327C= (p.Pro776=)
12g.101753420G>TCA386292286GNPTABc.3554C>A (p.Pro1185Gln)
c.452C>A (n.452C>A)
c.3473C>A (p.Pro1158Gln)
c.3338C>A (p.Pro1113Gln)
c.2327C>A (p.Pro776Gln)
12g.101753421G>ACA386292294GNPTABc.3553C>T (p.Pro1185Ser)
c.451C>T (n.451C>T)
c.3472C>T (p.Pro1158Ser)
c.3337C>T (p.Pro1113Ser)
c.2326C>T (p.Pro776Ser)
12g.101753421G>CCA386292296GNPTABc.3553C>G (p.Pro1185Ala)
c.451C>G (n.451C>G)
c.3472C>G (p.Pro1158Ala)
c.3337C>G (p.Pro1113Ala)
c.2326C>G (p.Pro776Ala)
12g.101753421G>TCA386292298GNPTABc.3553C>A (p.Pro1185Thr)
c.451C>A (n.451C>A)
c.3472C>A (p.Pro1158Thr)
c.3337C>A (p.Pro1113Thr)
c.2326C>A (p.Pro776Thr)
 gnomAD v4
12g.101753422delCA2620426039GNPTABc.3552del (p.Pro1185GlnfsTer24)
c.450del (n.450del)
c.3471del (p.Pro1158GlnfsTer24)
c.3336del (p.Pro1113GlnfsTer24)
c.2325del (p.Pro776GlnfsTer24)
 ClinVar gnomAD v4
12g.101753422C>ACA481317571GNPTABc.3552G>T (p.Leu1184=)
c.450G>T (n.450G>T)
c.3471G>T (p.Leu1157=)
c.3336G>T (p.Leu1112=)
c.2325G>T (p.Leu775=)
12g.101753422C=CA2058950553GNPTABc.3552G= (p.Leu1184=)
c.450G= (n.450G=)
c.3471G= (p.Leu1157=)
c.3336G= (p.Leu1112=)
c.2325G= (p.Leu775=)
12g.101753422C>GCA481317572GNPTABc.3552G>C (p.Leu1184=)
c.450G>C (n.450G>C)
c.3471G>C (p.Leu1157=)
c.3336G>C (p.Leu1112=)
c.2325G>C (p.Leu775=)
 dbSNP
12g.101753422C>TCA6746120GNPTABc.3552G>A (p.Leu1184=)
c.450G>A (n.450G>A)
c.3471G>A (p.Leu1157=)
c.3336G>A (p.Leu1112=)
c.2325G>A (p.Leu775=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753423A>CCA386292301GNPTABc.3551T>G (p.Leu1184Arg)
c.449T>G (n.449T>G)
c.3470T>G (p.Leu1157Arg)
c.3335T>G (p.Leu1112Arg)
c.2324T>G (p.Leu775Arg)
12g.101753423A>GCA386292304GNPTABc.3551T>C (p.Leu1184Pro)
c.449T>C (n.449T>C)
c.3470T>C (p.Leu1157Pro)
c.3335T>C (p.Leu1112Pro)
c.2324T>C (p.Leu775Pro)
12g.101753423A>TCA386292305GNPTABc.3551T>A (p.Leu1184Gln)
c.449T>A (n.449T>A)
c.3470T>A (p.Leu1157Gln)
c.3335T>A (p.Leu1112Gln)
c.2324T>A (p.Leu775Gln)
12g.101753424G>ACA481317575GNPTABc.3550C>T (p.Leu1184=)
c.448C>T (n.448C>T)
c.3469C>T (p.Leu1157=)
c.3334C>T (p.Leu1112=)
c.2323C>T (p.Leu775=)
12g.101753424G>CCA386292307GNPTABc.3550C>G (p.Leu1184Val)
c.448C>G (n.448C>G)
c.3469C>G (p.Leu1157Val)
c.3334C>G (p.Leu1112Val)
c.2323C>G (p.Leu775Val)
12g.101753424G>TCA386292309GNPTABc.3550C>A (p.Leu1184Met)
c.448C>A (n.448C>A)
c.3469C>A (p.Leu1157Met)
c.3334C>A (p.Leu1112Met)
c.2323C>A (p.Leu775Met)
12g.101753425T>ACA386292311GNPTABc.3549A>T (p.Glu1183Asp)
c.447A>T (n.447A>T)
c.3468A>T (p.Glu1156Asp)
c.3333A>T (p.Glu1111Asp)
c.2322A>T (p.Glu774Asp)
12g.101753425T>CCA481317579GNPTABc.3549A>G (p.Glu1183=)
c.447A>G (n.447A>G)
c.3468A>G (p.Glu1156=)
c.3333A>G (p.Glu1111=)
c.2322A>G (p.Glu774=)
 dbSNP
12g.101753425T>GCA386292313GNPTABc.3549A>C (p.Glu1183Asp)
c.447A>C (n.447A>C)
c.3468A>C (p.Glu1156Asp)
c.3333A>C (p.Glu1111Asp)
c.2322A>C (p.Glu774Asp)
12g.101753426T>ACA386292315GNPTABc.3548A>T (p.Glu1183Val)
c.446A>T (n.446A>T)
c.3467A>T (p.Glu1156Val)
c.3332A>T (p.Glu1111Val)
c.2321A>T (p.Glu774Val)
12g.101753426T>CCA386292320GNPTABc.3548A>G (p.Glu1183Gly)
c.446A>G (n.446A>G)
c.3467A>G (p.Glu1156Gly)
c.3332A>G (p.Glu1111Gly)
c.2321A>G (p.Glu774Gly)
12g.101753426T>GCA386292318GNPTABc.3548A>C (p.Glu1183Ala)
c.446A>C (n.446A>C)
c.3467A>C (p.Glu1156Ala)
c.3332A>C (p.Glu1111Ala)
c.2321A>C (p.Glu774Ala)
12g.101753427C>ACA386292322GNPTABc.3547G>T (p.Glu1183Ter)
c.445G>T (n.445G>T)
c.3466G>T (p.Glu1156Ter)
c.3331G>T (p.Glu1111Ter)
c.2320G>T (p.Glu774Ter)
12g.101753427C>GCA386292324GNPTABc.3547G>C (p.Glu1183Gln)
c.445G>C (n.445G>C)
c.3466G>C (p.Glu1156Gln)
c.3331G>C (p.Glu1111Gln)
c.2320G>C (p.Glu774Gln)
12g.101753427C>TCA386292326GNPTABc.3547G>A (p.Glu1183Lys)
c.445G>A (n.445G>A)
c.3466G>A (p.Glu1156Lys)
c.3331G>A (p.Glu1111Lys)
c.2320G>A (p.Glu774Lys)
12g.101753428A>CCA386292329GNPTABc.3546T>G (p.Phe1182Leu)
c.444T>G (n.444T>G)
c.3465T>G (p.Phe1155Leu)
c.3330T>G (p.Phe1110Leu)
c.2319T>G (p.Phe773Leu)
12g.101753428A>GCA481317582GNPTABc.3546T>C (p.Phe1182=)
c.444T>C (n.444T>C)
c.3465T>C (p.Phe1155=)
c.3330T>C (p.Phe1110=)
c.2319T>C (p.Phe773=)
12g.101753428A>TCA386292330GNPTABc.3546T>A (p.Phe1182Leu)
c.444T>A (n.444T>A)
c.3465T>A (p.Phe1155Leu)
c.3330T>A (p.Phe1110Leu)
c.2319T>A (p.Phe773Leu)
12g.101753429A>CCA386292331GNPTABc.3545T>G (p.Phe1182Cys)
c.443T>G (n.443T>G)
c.3464T>G (p.Phe1155Cys)
c.3329T>G (p.Phe1110Cys)
c.2318T>G (p.Phe773Cys)
12g.101753429A>GCA386292333GNPTABc.3545T>C (p.Phe1182Ser)
c.443T>C (n.443T>C)
c.3464T>C (p.Phe1155Ser)
c.3329T>C (p.Phe1110Ser)
c.2318T>C (p.Phe773Ser)
12g.101753429A>TCA386292335GNPTABc.3545T>A (p.Phe1182Tyr)
c.443T>A (n.443T>A)
c.3464T>A (p.Phe1155Tyr)
c.3329T>A (p.Phe1110Tyr)
c.2318T>A (p.Phe773Tyr)
12g.101753430A>CCA386292337GNPTABc.3544T>G (p.Phe1182Val)
c.442T>G (n.442T>G)
c.3463T>G (p.Phe1155Val)
c.3328T>G (p.Phe1110Val)
c.2317T>G (p.Phe773Val)
12g.101753430A>GCA386292339GNPTABc.3544T>C (p.Phe1182Leu)
c.442T>C (n.442T>C)
c.3463T>C (p.Phe1155Leu)
c.3328T>C (p.Phe1110Leu)
c.2317T>C (p.Phe773Leu)
12g.101753430A>TCA386292341GNPTABc.3544T>A (p.Phe1182Ile)
c.442T>A (n.442T>A)
c.3463T>A (p.Phe1155Ile)
c.3328T>A (p.Phe1110Ile)
c.2317T>A (p.Phe773Ile)
12g.101753430_101753431delinsATCA2058950554GNPTABc.3543_3544delinsAT (p.Gln1181=)
c.441_442delinsAT (n.441_442delinsAT)
c.3462_3463delinsAT (p.Gln1154=)
c.3327_3328delinsAT (p.Gln1109=)
c.2316_2317delinsAT (p.Gln772=)
12g.101753431T>ACA386292345GNPTABc.3543A>T (p.Gln1181His)
c.441A>T (n.441A>T)
c.3462A>T (p.Gln1154His)
c.3327A>T (p.Gln1109His)
c.2316A>T (p.Gln772His)
12g.101753431T>CCA481317589GNPTABc.3543A>G (p.Gln1181=)
c.441A>G (n.441A>G)
c.3462A>G (p.Gln1154=)
c.3327A>G (p.Gln1109=)
c.2316A>G (p.Gln772=)
 dbSNP
12g.101753431T>GCA386292343GNPTABc.3543A>C (p.Gln1181His)
c.441A>C (n.441A>C)
c.3462A>C (p.Gln1154His)
c.3327A>C (p.Gln1109His)
c.2316A>C (p.Gln772His)
12g.101753431T=CA2058950556GNPTABc.3543A= (p.Gln1181=)
c.441A= (n.441A=)
c.3462A= (p.Gln1154=)
c.3327A= (p.Gln1109=)
c.2316A= (p.Gln772=)
12g.101753432delCA2058950555GNPTABc.3543del (p.Gln1181HisfsTer28)
c.441del (n.441del)
c.3462del (p.Gln1154HisfsTer28)
c.3327del (p.Gln1109HisfsTer28)
c.2316del (p.Gln772HisfsTer28)
 dbSNP
12g.101753432T>ACA386292348GNPTABc.3542A>T (p.Gln1181Leu)
c.440A>T (n.440A>T)
c.3461A>T (p.Gln1154Leu)
c.3326A>T (p.Gln1109Leu)
c.2315A>T (p.Gln772Leu)
12g.101753432T>CCA386292349GNPTABc.3542A>G (p.Gln1181Arg)
c.440A>G (n.440A>G)
c.3461A>G (p.Gln1154Arg)
c.3326A>G (p.Gln1109Arg)
c.2315A>G (p.Gln772Arg)
12g.101753432T>GCA386292351GNPTABc.3542A>C (p.Gln1181Pro)
c.440A>C (n.440A>C)
c.3461A>C (p.Gln1154Pro)
c.3326A>C (p.Gln1109Pro)
c.2315A>C (p.Gln772Pro)
12g.101753433G>ACA386292354GNPTABc.3541C>T (p.Gln1181Ter)
c.439C>T (n.439C>T)
c.3460C>T (p.Gln1154Ter)
c.3325C>T (p.Gln1109Ter)
c.2314C>T (p.Gln772Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753433G>CCA386292355GNPTABc.3541C>G (p.Gln1181Glu)
c.439C>G (n.439C>G)
c.3460C>G (p.Gln1154Glu)
c.3325C>G (p.Gln1109Glu)
c.2314C>G (p.Gln772Glu)
12g.101753433G=CA2058950557GNPTABc.3541C= (p.Gln1181=)
c.439C= (n.439C=)
c.3460C= (p.Gln1154=)
c.3325C= (p.Gln1109=)
c.2314C= (p.Gln772=)
12g.101753433G>TCA386292357GNPTABc.3541C>A (p.Gln1181Lys)
c.439C>A (n.439C>A)
c.3460C>A (p.Gln1154Lys)
c.3325C>A (p.Gln1109Lys)
c.2314C>A (p.Gln772Lys)
12g.101753434G>ACA481317592GNPTABc.3540C>T (p.Ser1180=)
c.438C>T (n.438C>T)
c.3459C>T (p.Ser1153=)
c.3324C>T (p.Ser1108=)
c.2313C>T (p.Ser771=)
 ClinVar dbSNP gnomAD v4
12g.101753434G>CCA6746121GNPTABc.3540C>G (p.Ser1180=)
c.438C>G (n.438C>G)
c.3459C>G (p.Ser1153=)
c.3324C>G (p.Ser1108=)
c.2313C>G (p.Ser771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753434G=CA2058950558GNPTABc.3540C= (p.Ser1180=)
c.438C= (n.438C=)
c.3459C= (p.Ser1153=)
c.3324C= (p.Ser1108=)
c.2313C= (p.Ser771=)
12g.101753434G>TCA481317594GNPTABc.3540C>A (p.Ser1180=)
c.438C>A (n.438C>A)
c.3459C>A (p.Ser1153=)
c.3324C>A (p.Ser1108=)
c.2313C>A (p.Ser771=)
12g.101753435G>ACA16609423GNPTABc.3539C>T (p.Ser1180Phe)
c.437C>T (n.437C>T)
c.3458C>T (p.Ser1153Phe)
c.3323C>T (p.Ser1108Phe)
c.2312C>T (p.Ser771Phe)
 ClinVar dbSNP
12g.101753435G>CCA386292361GNPTABc.3539C>G (p.Ser1180Cys)
c.437C>G (n.437C>G)
c.3458C>G (p.Ser1153Cys)
c.3323C>G (p.Ser1108Cys)
c.2312C>G (p.Ser771Cys)
12g.101753435G=CA2058950559GNPTABc.3539C= (p.Ser1180=)
c.437C= (n.437C=)
c.3458C= (p.Ser1153=)
c.3323C= (p.Ser1108=)
c.2312C= (p.Ser771=)
12g.101753435G>TCA386292362GNPTABc.3539C>A (p.Ser1180Tyr)
c.437C>A (n.437C>A)
c.3458C>A (p.Ser1153Tyr)
c.3323C>A (p.Ser1108Tyr)
c.2312C>A (p.Ser771Tyr)
12g.101753436A>CCA386292364GNPTABc.3538T>G (p.Ser1180Ala)
c.436T>G (n.436T>G)
c.3457T>G (p.Ser1153Ala)
c.3322T>G (p.Ser1108Ala)
c.2311T>G (p.Ser771Ala)
12g.101753436A>GCA386292366GNPTABc.3538T>C (p.Ser1180Pro)
c.436T>C (n.436T>C)
c.3457T>C (p.Ser1153Pro)
c.3322T>C (p.Ser1108Pro)
c.2311T>C (p.Ser771Pro)
12g.101753436A>TCA386292368GNPTABc.3538T>A (p.Ser1180Thr)
c.436T>A (n.436T>A)
c.3457T>A (p.Ser1153Thr)
c.3322T>A (p.Ser1108Thr)
c.2311T>A (p.Ser771Thr)
12g.101753437A>CCA481317598GNPTABc.3537T>G (p.Pro1179=)
c.435T>G (n.435T>G)
c.3456T>G (p.Pro1152=)
c.3321T>G (p.Pro1107=)
c.2310T>G (p.Pro770=)
12g.101753437A>GCA481317600GNPTABc.3537T>C (p.Pro1179=)
c.435T>C (n.435T>C)
c.3456T>C (p.Pro1152=)
c.3321T>C (p.Pro1107=)
c.2310T>C (p.Pro770=)
12g.101753437A>TCA481317601GNPTABc.3537T>A (p.Pro1179=)
c.435T>A (n.435T>A)
c.3456T>A (p.Pro1152=)
c.3321T>A (p.Pro1107=)
c.2310T>A (p.Pro770=)
12g.101753438G>ACA386292373GNPTABc.3536C>T (p.Pro1179Leu)
c.434C>T (n.434C>T)
c.3455C>T (p.Pro1152Leu)
c.3320C>T (p.Pro1107Leu)
c.2309C>T (p.Pro770Leu)
12g.101753438G>CCA386292375GNPTABc.3536C>G (p.Pro1179Arg)
c.434C>G (n.434C>G)
c.3455C>G (p.Pro1152Arg)
c.3320C>G (p.Pro1107Arg)
c.2309C>G (p.Pro770Arg)
12g.101753438G>TCA386292371GNPTABc.3536C>A (p.Pro1179His)
c.434C>A (n.434C>A)
c.3455C>A (p.Pro1152His)
c.3320C>A (p.Pro1107His)
c.2309C>A (p.Pro770His)
12g.101753439G>ACA386292377GNPTABc.3535C>T (p.Pro1179Ser)
c.433C>T (n.433C>T)
c.3454C>T (p.Pro1152Ser)
c.3319C>T (p.Pro1107Ser)
c.2308C>T (p.Pro770Ser)
12g.101753439G>CCA386292379GNPTABc.3535C>G (p.Pro1179Ala)
c.433C>G (n.433C>G)
c.3454C>G (p.Pro1152Ala)
c.3319C>G (p.Pro1107Ala)
c.2308C>G (p.Pro770Ala)
12g.101753439G>TCA386292381GNPTABc.3535C>A (p.Pro1179Thr)
c.433C>A (n.433C>A)
c.3454C>A (p.Pro1152Thr)
c.3319C>A (p.Pro1107Thr)
c.2308C>A (p.Pro770Thr)
 gnomAD v4
12g.101753440T>ACA481317607GNPTABc.3534A>T (p.Ile1178=)
c.432A>T (n.432A>T)
c.3453A>T (p.Ile1151=)
c.3318A>T (p.Ile1106=)
c.2307A>T (p.Ile769=)
12g.101753440T>CCA6746122GNPTABc.3534A>G (p.Ile1178Met)
c.432A>G (n.432A>G)
c.3453A>G (p.Ile1151Met)
c.3318A>G (p.Ile1106Met)
c.2307A>G (p.Ile769Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753440T>GCA481317608GNPTABc.3534A>C (p.Ile1178=)
c.432A>C (n.432A>C)
c.3453A>C (p.Ile1151=)
c.3318A>C (p.Ile1106=)
c.2307A>C (p.Ile769=)
12g.101753440T=CA2058950560GNPTABc.3534A= (p.Ile1178=)
c.432A= (n.432A=)
c.3453A= (p.Ile1151=)
c.3318A= (p.Ile1106=)
c.2307A= (p.Ile769=)
12g.101753441A>CCA386292389GNPTABc.3533T>G (p.Ile1178Arg)
c.431T>G (n.431T>G)
c.3452T>G (p.Ile1151Arg)
c.3317T>G (p.Ile1106Arg)
c.2306T>G (p.Ile769Arg)
12g.101753441A>GCA386292387GNPTABc.3533T>C (p.Ile1178Thr)
c.431T>C (n.431T>C)
c.3452T>C (p.Ile1151Thr)
c.3317T>C (p.Ile1106Thr)
c.2306T>C (p.Ile769Thr)
 gnomAD v4
12g.101753441A>TCA386292385GNPTABc.3533T>A (p.Ile1178Lys)
c.431T>A (n.431T>A)
c.3452T>A (p.Ile1151Lys)
c.3317T>A (p.Ile1106Lys)
c.2306T>A (p.Ile769Lys)
12g.101753442delCA2575264832GNPTABc.3532del (p.Ile1178TyrfsTer?)
c.430del (n.430del)
c.3451del (p.Ile1151TyrfsTer?)
c.3316del (p.Ile1106TyrfsTer?)
c.2305del (p.Ile769TyrfsTer?)
 gnomAD v4
12g.101753442T>ACA386292391GNPTABc.3532A>T (p.Ile1178Leu)
c.430A>T (n.430A>T)
c.3451A>T (p.Ile1151Leu)
c.3316A>T (p.Ile1106Leu)
c.2305A>T (p.Ile769Leu)
12g.101753442T>CCA386292392GNPTABc.3532A>G (p.Ile1178Val)
c.430A>G (n.430A>G)
c.3451A>G (p.Ile1151Val)
c.3316A>G (p.Ile1106Val)
c.2305A>G (p.Ile769Val)
 gnomAD v4
12g.101753442T>GCA6746123GNPTABc.3532A>C (p.Ile1178Leu)
c.430A>C (n.430A>C)
c.3451A>C (p.Ile1151Leu)
c.3316A>C (p.Ile1106Leu)
c.2305A>C (p.Ile769Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753442T=CA2058950561GNPTABc.3532A= (p.Ile1178=)
c.430A= (n.430A=)
c.3451A= (p.Ile1151=)
c.3316A= (p.Ile1106=)
c.2305A= (p.Ile769=)
12g.101753443G>ACA481317612GNPTABc.3531C>T (p.Pro1177=)
c.429C>T (n.429C>T)
c.3450C>T (p.Pro1150=)
c.3315C>T (p.Pro1105=)
c.2304C>T (p.Pro768=)
 dbSNP gnomAD v2 gnomAD v4
12g.101753443G>CCA481317614GNPTABc.3531C>G (p.Pro1177=)
c.429C>G (n.429C>G)
c.3450C>G (p.Pro1150=)
c.3315C>G (p.Pro1105=)
c.2304C>G (p.Pro768=)
 ClinVar
12g.101753443G=CA2058950562GNPTABc.3531C= (p.Pro1177=)
c.429C= (n.429C=)
c.3450C= (p.Pro1150=)
c.3315C= (p.Pro1105=)
c.2304C= (p.Pro768=)
12g.101753443G>TCA481317615GNPTABc.3531C>A (p.Pro1177=)
c.429C>A (n.429C>A)
c.3450C>A (p.Pro1150=)
c.3315C>A (p.Pro1105=)
c.2304C>A (p.Pro768=)
12g.101753444G>ACA386292396GNPTABc.3530C>T (p.Pro1177Leu)
c.428C>T (n.428C>T)
c.3449C>T (p.Pro1150Leu)
c.3314C>T (p.Pro1105Leu)
c.2303C>T (p.Pro768Leu)
 gnomAD v4
12g.101753444G>CCA386292398GNPTABc.3530C>G (p.Pro1177Arg)
c.428C>G (n.428C>G)
c.3449C>G (p.Pro1150Arg)
c.3314C>G (p.Pro1105Arg)
c.2303C>G (p.Pro768Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753444G=CA2058950564GNPTABc.3530C= (p.Pro1177=)
c.428C= (n.428C=)
c.3449C= (p.Pro1150=)
c.3314C= (p.Pro1105=)
c.2303C= (p.Pro768=)
12g.101753444G>TCA386292400GNPTABc.3530C>A (p.Pro1177His)
c.428C>A (n.428C>A)
c.3449C>A (p.Pro1150His)
c.3314C>A (p.Pro1105His)
c.2303C>A (p.Pro768His)
12g.101753444_101753451delinsGGGAACATCA2058950563GNPTABc.3523_3530delinsATGTTCCC (p.Met1175=)
c.421_428delinsATGTTCCC (n.421_428delinsATGTTCCC)
c.3442_3449delinsATGTTCCC (p.Met1148=)
c.3307_3314delinsATGTTCCC (p.Met1103=)
c.2296_2303delinsATGTTCCC (p.Met766=)
12g.101753445G>ACA386292406GNPTABc.3529C>T (p.Pro1177Ser)
c.427C>T (n.427C>T)
c.3448C>T (p.Pro1150Ser)
c.3313C>T (p.Pro1105Ser)
c.2302C>T (p.Pro768Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753445G>CCA386292404GNPTABc.3529C>G (p.Pro1177Ala)
c.427C>G (n.427C>G)
c.3448C>G (p.Pro1150Ala)
c.3313C>G (p.Pro1105Ala)
c.2302C>G (p.Pro768Ala)
12g.101753445G=CA2058950565GNPTABc.3529C= (p.Pro1177=)
c.427C= (n.427C=)
c.3448C= (p.Pro1150=)
c.3313C= (p.Pro1105=)
c.2302C= (p.Pro768=)
12g.101753445G>TCA242447726GNPTABc.3529C>A (p.Pro1177Thr)
c.427C>A (n.427C>A)
c.3448C>A (p.Pro1150Thr)
c.3313C>A (p.Pro1105Thr)
c.2302C>A (p.Pro768Thr)
 dbSNP gnomAD v2
12g.101753448_101753454delCA343404GNPTABc.3523_3529del (p.Met1175ProfsTer?)
c.421_427del (n.421_427del)
c.3442_3448del (p.Met1148ProfsTer?)
c.3307_3313del (p.Met1103ProfsTer?)
c.2296_2302del (p.Met766ProfsTer?)
 ClinVar dbSNP
12g.101753446G>ACA481317620GNPTABc.3528C>T (p.Phe1176=)
c.426C>T (n.426C>T)
c.3447C>T (p.Phe1149=)
c.3312C>T (p.Phe1104=)
c.2301C>T (p.Phe767=)
 gnomAD v4
12g.101753446G>CCA6746125GNPTABc.3528C>G (p.Phe1176Leu)
c.426C>G (n.426C>G)
c.3447C>G (p.Phe1149Leu)
c.3312C>G (p.Phe1104Leu)
c.2301C>G (p.Phe767Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753446G=CA2058950566GNPTABc.3528C= (p.Phe1176=)
c.426C= (n.426C=)
c.3447C= (p.Phe1149=)
c.3312C= (p.Phe1104=)
c.2301C= (p.Phe767=)
12g.101753446G>TCA6746124GNPTABc.3528C>A (p.Phe1176Leu)
c.426C>A (n.426C>A)
c.3447C>A (p.Phe1149Leu)
c.3312C>A (p.Phe1104Leu)
c.2301C>A (p.Phe767Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753447A>CCA386292412GNPTABc.3527T>G (p.Phe1176Cys)
c.425T>G (n.425T>G)
c.3446T>G (p.Phe1149Cys)
c.3311T>G (p.Phe1104Cys)
c.2300T>G (p.Phe767Cys)
12g.101753447A>GCA386292414GNPTABc.3527T>C (p.Phe1176Ser)
c.425T>C (n.425T>C)
c.3446T>C (p.Phe1149Ser)
c.3311T>C (p.Phe1104Ser)
c.2300T>C (p.Phe767Ser)
12g.101753447A>TCA386292416GNPTABc.3527T>A (p.Phe1176Tyr)
c.425T>A (n.425T>A)
c.3446T>A (p.Phe1149Tyr)
c.3311T>A (p.Phe1104Tyr)
c.2300T>A (p.Phe767Tyr)
12g.101753448A>CCA386292419GNPTABc.3526T>G (p.Phe1176Val)
c.424T>G (n.424T>G)
c.3445T>G (p.Phe1149Val)
c.3310T>G (p.Phe1104Val)
c.2299T>G (p.Phe767Val)
12g.101753448A>GCA386292421GNPTABc.3526T>C (p.Phe1176Leu)
c.424T>C (n.424T>C)
c.3445T>C (p.Phe1149Leu)
c.3310T>C (p.Phe1104Leu)
c.2299T>C (p.Phe767Leu)
12g.101753448A>TCA386292423GNPTABc.3526T>A (p.Phe1176Ile)
c.424T>A (n.424T>A)
c.3445T>A (p.Phe1149Ile)
c.3310T>A (p.Phe1104Ile)
c.2299T>A (p.Phe767Ile)
12g.101753449C>ACA6746126GNPTABc.3525G>T (p.Met1175Ile)
c.423G>T (n.423G>T)
c.3444G>T (p.Met1148Ile)
c.3309G>T (p.Met1103Ile)
c.2298G>T (p.Met766Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753449C=CA2058950567GNPTABc.3525G= (p.Met1175=)
c.423G= (n.423G=)
c.3444G= (p.Met1148=)
c.3309G= (p.Met1103=)
c.2298G= (p.Met766=)
12g.101753449C>GCA386292426GNPTABc.3525G>C (p.Met1175Ile)
c.423G>C (n.423G>C)
c.3444G>C (p.Met1148Ile)
c.3309G>C (p.Met1103Ile)
c.2298G>C (p.Met766Ile)
12g.101753449C>TCA386292428GNPTABc.3525G>A (p.Met1175Ile)
c.423G>A (n.423G>A)
c.3444G>A (p.Met1148Ile)
c.3309G>A (p.Met1103Ile)
c.2298G>A (p.Met766Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.101753450A=CA2058950568GNPTABc.3524T= (p.Met1175=)
c.422T= (n.422T=)
c.3443T= (p.Met1148=)
c.3308T= (p.Met1103=)
c.2297T= (p.Met766=)
12g.101753450A>CCA6746128GNPTABc.3524T>G (p.Met1175Arg)
c.422T>G (n.422T>G)
c.3443T>G (p.Met1148Arg)
c.3308T>G (p.Met1103Arg)
c.2297T>G (p.Met766Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753450A>GCA6746127GNPTABc.3524T>C (p.Met1175Thr)
c.422T>C (n.422T>C)
c.3443T>C (p.Met1148Thr)
c.3308T>C (p.Met1103Thr)
c.2297T>C (p.Met766Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753450A>TCA386292432GNPTABc.3524T>A (p.Met1175Lys)
c.422T>A (n.422T>A)
c.3443T>A (p.Met1148Lys)
c.3308T>A (p.Met1103Lys)
c.2297T>A (p.Met766Lys)
12g.101753451T>ACA386292438GNPTABc.3523A>T (p.Met1175Leu)
c.421A>T (n.421A>T)
c.3442A>T (p.Met1148Leu)
c.3307A>T (p.Met1103Leu)
c.2296A>T (p.Met766Leu)
12g.101753451T>CCA386292436GNPTABc.3523A>G (p.Met1175Val)
c.421A>G (n.421A>G)
c.3442A>G (p.Met1148Val)
c.3307A>G (p.Met1103Val)
c.2296A>G (p.Met766Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753451T>GCA386292433GNPTABc.3523A>C (p.Met1175Leu)
c.421A>C (n.421A>C)
c.3442A>C (p.Met1148Leu)
c.3307A>C (p.Met1103Leu)
c.2296A>C (p.Met766Leu)
12g.101753451T=CA2058950569GNPTABc.3523A= (p.Met1175=)
c.421A= (n.421A=)
c.3442A= (p.Met1148=)
c.3307A= (p.Met1103=)
c.2296A= (p.Met766=)
12g.101753452G>ACA481317626GNPTABc.3522C>T (p.Ser1174=)
c.420C>T (n.420C>T)
c.3441C>T (p.Ser1147=)
c.3306C>T (p.Ser1102=)
c.2295C>T (p.Ser765=)
12g.101753452G>CCA481317627GNPTABc.3522C>G (p.Ser1174=)
c.420C>G (n.420C>G)
c.3441C>G (p.Ser1147=)
c.3306C>G (p.Ser1102=)
c.2295C>G (p.Ser765=)
12g.101753452G>TCA481317628GNPTABc.3522C>A (p.Ser1174=)
c.420C>A (n.420C>A)
c.3441C>A (p.Ser1147=)
c.3306C>A (p.Ser1102=)
c.2295C>A (p.Ser765=)
12g.101753453G>ACA386292440GNPTABc.3521C>T (p.Ser1174Phe)
c.419C>T (n.419C>T)
c.3440C>T (p.Ser1147Phe)
c.3305C>T (p.Ser1102Phe)
c.2294C>T (p.Ser765Phe)
12g.101753453G>CCA386292441GNPTABc.3521C>G (p.Ser1174Cys)
c.419C>G (n.419C>G)
c.3440C>G (p.Ser1147Cys)
c.3305C>G (p.Ser1102Cys)
c.2294C>G (p.Ser765Cys)
12g.101753453G>TCA386292443GNPTABc.3521C>A (p.Ser1174Tyr)
c.419C>A (n.419C>A)
c.3440C>A (p.Ser1147Tyr)
c.3305C>A (p.Ser1102Tyr)
c.2294C>A (p.Ser765Tyr)
12g.101753454A>CCA386292445GNPTABc.3520T>G (p.Ser1174Ala)
c.418T>G (n.418T>G)
c.3439T>G (p.Ser1147Ala)
c.3304T>G (p.Ser1102Ala)
c.2293T>G (p.Ser765Ala)
12g.101753454A>GCA386292447GNPTABc.3520T>C (p.Ser1174Pro)
c.418T>C (n.418T>C)
c.3439T>C (p.Ser1147Pro)
c.3304T>C (p.Ser1102Pro)
c.2293T>C (p.Ser765Pro)
12g.101753454A>TCA386292450GNPTABc.3520T>A (p.Ser1174Thr)
c.418T>A (n.418T>A)
c.3439T>A (p.Ser1147Thr)
c.3304T>A (p.Ser1102Thr)
c.2293T>A (p.Ser765Thr)
12g.101753455T>ACA386292452GNPTABc.3519A>T (p.Glu1173Asp)
c.417A>T (n.417A>T)
c.3438A>T (p.Glu1146Asp)
c.3303A>T (p.Glu1101Asp)
c.2292A>T (p.Glu764Asp)
12g.101753455T>CCA481317637GNPTABc.3519A>G (p.Glu1173=)
c.417A>G (n.417A>G)
c.3438A>G (p.Glu1146=)
c.3303A>G (p.Glu1101=)
c.2292A>G (p.Glu764=)
12g.101753455T>GCA386292454GNPTABc.3519A>C (p.Glu1173Asp)
c.417A>C (n.417A>C)
c.3438A>C (p.Glu1146Asp)
c.3303A>C (p.Glu1101Asp)
c.2292A>C (p.Glu764Asp)
12g.101753456T>ACA386292456GNPTABc.3518A>T (p.Glu1173Val)
c.416A>T (n.416A>T)
c.3437A>T (p.Glu1146Val)
c.3302A>T (p.Glu1101Val)
c.2291A>T (p.Glu764Val)
12g.101753456T>CCA6746129GNPTABc.3518A>G (p.Glu1173Gly)
c.416A>G (n.416A>G)
c.3437A>G (p.Glu1146Gly)
c.3302A>G (p.Glu1101Gly)
c.2291A>G (p.Glu764Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753456T>GCA386292462GNPTABc.3518A>C (p.Glu1173Ala)
c.416A>C (n.416A>C)
c.3437A>C (p.Glu1146Ala)
c.3302A>C (p.Glu1101Ala)
c.2291A>C (p.Glu764Ala)
12g.101753456T=CA2058950570GNPTABc.3518A= (p.Glu1173=)
c.416A= (n.416A=)
c.3437A= (p.Glu1146=)
c.3302A= (p.Glu1101=)
c.2291A= (p.Glu764=)
12g.101753457C>ACA386292464GNPTABc.3517G>T (p.Glu1173Ter)
c.415G>T (n.415G>T)
c.3436G>T (p.Glu1146Ter)
c.3301G>T (p.Glu1101Ter)
c.2290G>T (p.Glu764Ter)
12g.101753457C>GCA386292467GNPTABc.3517G>C (p.Glu1173Gln)
c.415G>C (n.415G>C)
c.3436G>C (p.Glu1146Gln)
c.3301G>C (p.Glu1101Gln)
c.2290G>C (p.Glu764Gln)
12g.101753457C>TCA386292468GNPTABc.3517G>A (p.Glu1173Lys)
c.415G>A (n.415G>A)
c.3436G>A (p.Glu1146Lys)
c.3301G>A (p.Glu1101Lys)
c.2290G>A (p.Glu764Lys)
12g.101753458A=CA2058950571GNPTABc.3516T= (p.Tyr1172=)
c.414T= (n.414T=)
c.3435T= (p.Tyr1145=)
c.3300T= (p.Tyr1100=)
c.2289T= (p.Tyr763=)
12g.101753458A>CCA386292473GNPTABc.3516T>G (p.Tyr1172Ter)
c.414T>G (n.414T>G)
c.3435T>G (p.Tyr1145Ter)
c.3300T>G (p.Tyr1100Ter)
c.2289T>G (p.Tyr763Ter)
12g.101753458A>GCA6746130GNPTABc.3516T>C (p.Tyr1172=)
c.414T>C (n.414T>C)
c.3435T>C (p.Tyr1145=)
c.3300T>C (p.Tyr1100=)
c.2289T>C (p.Tyr763=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753458A>TCA386292472GNPTABc.3516T>A (p.Tyr1172Ter)
c.414T>A (n.414T>A)
c.3435T>A (p.Tyr1145Ter)
c.3300T>A (p.Tyr1100Ter)
c.2289T>A (p.Tyr763Ter)
12g.101753459T>ACA6746132GNPTABc.3515A>T (p.Tyr1172Phe)
c.413A>T (n.413A>T)
c.3434A>T (p.Tyr1145Phe)
c.3299A>T (p.Tyr1100Phe)
c.2288A>T (p.Tyr763Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753459T>CCA6746131GNPTABc.3515A>G (p.Tyr1172Cys)
c.413A>G (n.413A>G)
c.3434A>G (p.Tyr1145Cys)
c.3299A>G (p.Tyr1100Cys)
c.2288A>G (p.Tyr763Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753459T>GCA386292479GNPTABc.3515A>C (p.Tyr1172Ser)
c.413A>C (n.413A>C)
c.3434A>C (p.Tyr1145Ser)
c.3299A>C (p.Tyr1100Ser)
c.2288A>C (p.Tyr763Ser)
12g.101753459T=CA2058950572GNPTABc.3515A= (p.Tyr1172=)
c.413A= (n.413A=)
c.3434A= (p.Tyr1145=)
c.3299A= (p.Tyr1100=)
c.2288A= (p.Tyr763=)
12g.101753460A=CA2058950573GNPTABc.3514T= (p.Tyr1172=)
c.412T= (n.412T=)
c.3433T= (p.Tyr1145=)
c.3298T= (p.Tyr1100=)
c.2287T= (p.Tyr763=)
12g.101753460A>CCA386292480GNPTABc.3514T>G (p.Tyr1172Asp)
c.412T>G (n.412T>G)
c.3433T>G (p.Tyr1145Asp)
c.3298T>G (p.Tyr1100Asp)
c.2287T>G (p.Tyr763Asp)
12g.101753460A>GCA386292482GNPTABc.3514T>C (p.Tyr1172His)
c.412T>C (n.412T>C)
c.3433T>C (p.Tyr1145His)
c.3298T>C (p.Tyr1100His)
c.2287T>C (p.Tyr763His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101753460A>TCA386292483GNPTABc.3514T>A (p.Tyr1172Asn)
c.412T>A (n.412T>A)
c.3433T>A (p.Tyr1145Asn)
c.3298T>A (p.Tyr1100Asn)
c.2287T>A (p.Tyr763Asn)
12g.101753461G>ACA481317645GNPTABc.3513C>T (p.Phe1171=)
c.411C>T (n.411C>T)
c.3432C>T (p.Phe1144=)
c.3297C>T (p.Phe1099=)
c.2286C>T (p.Phe762=)
12g.101753461G>CCA386292485GNPTABc.3513C>G (p.Phe1171Leu)
c.411C>G (n.411C>G)
c.3432C>G (p.Phe1144Leu)
c.3297C>G (p.Phe1099Leu)
c.2286C>G (p.Phe762Leu)
12g.101753461G>TCA386292484GNPTABc.3513C>A (p.Phe1171Leu)
c.411C>A (n.411C>A)
c.3432C>A (p.Phe1144Leu)
c.3297C>A (p.Phe1099Leu)
c.2286C>A (p.Phe762Leu)
12g.101753462A=CA2058950574GNPTABc.3512T= (p.Phe1171=)
c.410T= (n.410T=)
c.3431T= (p.Phe1144=)
c.3296T= (p.Phe1099=)
c.2285T= (p.Phe762=)
12g.101753462A>CCA386292488GNPTABc.3512T>G (p.Phe1171Cys)
c.410T>G (n.410T>G)
c.3431T>G (p.Phe1144Cys)
c.3296T>G (p.Phe1099Cys)
c.2285T>G (p.Phe762Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.101753462A>GCA386292490GNPTABc.3512T>C (p.Phe1171Ser)
c.410T>C (n.410T>C)
c.3431T>C (p.Phe1144Ser)
c.3296T>C (p.Phe1099Ser)
c.2285T>C (p.Phe762Ser)
12g.101753462A>TCA386292492GNPTABc.3512T>A (p.Phe1171Tyr)
c.410T>A (n.410T>A)
c.3431T>A (p.Phe1144Tyr)
c.3296T>A (p.Phe1099Tyr)
c.2285T>A (p.Phe762Tyr)
12g.101753463A=CA2058950575GNPTABc.3511T= (p.Phe1171=)
c.409T= (n.409T=)
c.3430T= (p.Phe1144=)
c.3295T= (p.Phe1099=)
c.2284T= (p.Phe762=)
12g.101753463A>CCA242447786GNPTABc.3511T>G (p.Phe1171Val)
c.409T>G (n.409T>G)
c.3430T>G (p.Phe1144Val)
c.3295T>G (p.Phe1099Val)
c.2284T>G (p.Phe762Val)
 dbSNP gnomAD v4
12g.101753463A>GCA6746133GNPTABc.3511T>C (p.Phe1171Leu)
c.409T>C (n.409T>C)
c.3430T>C (p.Phe1144Leu)
c.3295T>C (p.Phe1099Leu)
c.2284T>C (p.Phe762Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753463A>TCA386292496GNPTABc.3511T>A (p.Phe1171Ile)
c.409T>A (n.409T>A)
c.3430T>A (p.Phe1144Ile)
c.3295T>A (p.Phe1099Ile)
c.2284T>A (p.Phe762Ile)
12g.101753464G>ACA6746134GNPTABc.3510C>T (p.Asp1170=)
c.408C>T (n.408C>T)
c.3429C>T (p.Asp1143=)
c.3294C>T (p.Asp1098=)
c.2283C>T (p.Asp761=)
 ClinVar dbSNP ExAC gnomAD v2
12g.101753464G>CCA386292502GNPTABc.3510C>G (p.Asp1170Glu)
c.408C>G (n.408C>G)
c.3429C>G (p.Asp1143Glu)
c.3294C>G (p.Asp1098Glu)
c.2283C>G (p.Asp761Glu)
12g.101753464G=CA2058950576GNPTABc.3510C= (p.Asp1170=)
c.408C= (n.408C=)
c.3429C= (p.Asp1143=)
c.3294C= (p.Asp1098=)
c.2283C= (p.Asp761=)
12g.101753464G>TCA386292499GNPTABc.3510C>A (p.Asp1170Glu)
c.408C>A (n.408C>A)
c.3429C>A (p.Asp1143Glu)
c.3294C>A (p.Asp1098Glu)
c.2283C>A (p.Asp761Glu)
12g.101753465T>ACA386292504GNPTABc.3509A>T (p.Asp1170Val)
c.407A>T (n.407A>T)
c.3428A>T (p.Asp1143Val)
c.3293A>T (p.Asp1098Val)
c.2282A>T (p.Asp761Val)
12g.101753465T>CCA386292506GNPTABc.3509A>G (p.Asp1170Gly)
c.407A>G (n.407A>G)
c.3428A>G (p.Asp1143Gly)
c.3293A>G (p.Asp1098Gly)
c.2282A>G (p.Asp761Gly)
12g.101753465T>GCA386292508GNPTABc.3509A>C (p.Asp1170Ala)
c.407A>C (n.407A>C)
c.3428A>C (p.Asp1143Ala)
c.3293A>C (p.Asp1098Ala)
c.2282A>C (p.Asp761Ala)
12g.101753466C>ACA386292511GNPTABc.3508G>T (p.Asp1170Tyr)
c.406G>T (n.406G>T)
c.3427G>T (p.Asp1143Tyr)
c.3292G>T (p.Asp1098Tyr)
c.2281G>T (p.Asp761Tyr)
12g.101753466C>GCA386292512GNPTABc.3508G>C (p.Asp1170His)
c.406G>C (n.406G>C)
c.3427G>C (p.Asp1143His)
c.3292G>C (p.Asp1098His)
c.2281G>C (p.Asp761His)
12g.101753466C>TCA386292515GNPTABc.3508G>A (p.Asp1170Asn)
c.406G>A (n.406G>A)
c.3427G>A (p.Asp1143Asn)
c.3292G>A (p.Asp1098Asn)
c.2281G>A (p.Asp761Asn)
12g.101753467C>ACA386292517GNPTABc.3507G>T (p.Arg1169Ser)
c.405G>T (n.405G>T)
c.3426G>T (p.Arg1142Ser)
c.3291G>T (p.Arg1097Ser)
c.2280G>T (p.Arg760Ser)
12g.101753467C=CA2058950577GNPTABc.3507G= (p.Arg1169=)
c.405G= (n.405G=)
c.3426G= (p.Arg1142=)
c.3291G= (p.Arg1097=)
c.2280G= (p.Arg760=)
12g.101753467C>GCA386292520GNPTABc.3507G>C (p.Arg1169Ser)
c.405G>C (n.405G>C)
c.3426G>C (p.Arg1142Ser)
c.3291G>C (p.Arg1097Ser)
c.2280G>C (p.Arg760Ser)
12g.101753467C>TCA481317656GNPTABc.3507G>A (p.Arg1169=)
c.405G>A (n.405G>A)
c.3426G>A (p.Arg1142=)
c.3291G>A (p.Arg1097=)
c.2280G>A (p.Arg760=)
 ClinVar dbSNP gnomAD v4
12g.101753468C>ACA386292522GNPTABc.3506G>T (p.Arg1169Met)
c.404G>T (n.404G>T)
c.3425G>T (p.Arg1142Met)
c.3290G>T (p.Arg1097Met)
c.2279G>T (p.Arg760Met)
 COSMIC
12g.101753468C>GCA386292524GNPTABc.3506G>C (p.Arg1169Thr)
c.404G>C (n.404G>C)
c.3425G>C (p.Arg1142Thr)
c.3290G>C (p.Arg1097Thr)
c.2279G>C (p.Arg760Thr)
12g.101753468C>TCA386292526GNPTABc.3506G>A (p.Arg1169Lys)
c.404G>A (n.404G>A)
c.3425G>A (p.Arg1142Lys)
c.3290G>A (p.Arg1097Lys)
c.2279G>A (p.Arg760Lys)
12g.101753469T>ACA386292528GNPTABc.3505A>T (p.Arg1169Trp)
c.403A>T (n.403A>T)
c.3424A>T (p.Arg1142Trp)
c.3289A>T (p.Arg1097Trp)
c.2278A>T (p.Arg760Trp)
12g.101753469T>CCA386292530GNPTABc.3505A>G (p.Arg1169Gly)
c.403A>G (n.403A>G)
c.3424A>G (p.Arg1142Gly)
c.3289A>G (p.Arg1097Gly)
c.2278A>G (p.Arg760Gly)
 gnomAD v4
12g.101753469T>GCA481317659GNPTABc.3505A>C (p.Arg1169=)
c.403A>C (n.403A>C)
c.3424A>C (p.Arg1142=)
c.3289A>C (p.Arg1097=)
c.2278A>C (p.Arg760=)
 gnomAD v4
12g.101753469_101753471delinsTGACA2058950578GNPTABc.3503_3505delinsTCA (p.Leu1168=)
c.401_403delinsTCA (n.401_403delinsTCA)
c.3422_3424delinsTCA (p.Leu1141=)
c.3287_3289delinsTCA (p.Leu1096=)
c.2276_2278delinsTCA (p.Leu759=)
12g.101753470G>ACA481317662GNPTABc.3504C>T (p.Leu1168=)
c.402C>T (n.402C>T)
c.3423C>T (p.Leu1141=)
c.3288C>T (p.Leu1096=)
c.2277C>T (p.Leu759=)
12g.101753470G>CCA481317661GNPTABc.3504C>G (p.Leu1168=)
c.402C>G (n.402C>G)
c.3423C>G (p.Leu1141=)
c.3288C>G (p.Leu1096=)
c.2277C>G (p.Leu759=)
12g.101753470G>TCA481317660GNPTABc.3504C>A (p.Leu1168=)
c.402C>A (n.402C>A)
c.3423C>A (p.Leu1141=)
c.3288C>A (p.Leu1096=)
c.2277C>A (p.Leu759=)
12g.101753472_101753473delCA223755GNPTABc.3503_3504del (p.Leu1168GlnfsTer5)
c.401_402del (n.401_402del)
c.3422_3423del (p.Leu1141GlnfsTer5)
c.3287_3288del (p.Leu1096GlnfsTer5)
c.2276_2277del (p.Leu759GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101753471A>CCA386292537GNPTABc.3503T>G (p.Leu1168Arg)
c.401T>G (n.401T>G)
c.3422T>G (p.Leu1141Arg)
c.3287T>G (p.Leu1096Arg)
c.2276T>G (p.Leu759Arg)
 gnomAD v4
12g.101753471A>GCA386292539GNPTABc.3503T>C (p.Leu1168Pro)
c.401T>C (n.401T>C)
c.3422T>C (p.Leu1141Pro)
c.3287T>C (p.Leu1096Pro)
c.2276T>C (p.Leu759Pro)
12g.101753471A>TCA386292541GNPTABc.3503T>A (p.Leu1168His)
c.401T>A (n.401T>A)
c.3422T>A (p.Leu1141His)
c.3287T>A (p.Leu1096His)
c.2276T>A (p.Leu759His)
12g.101753472G>ACA386292543GNPTABc.3502C>T (p.Leu1168Phe)
c.400C>T (n.400C>T)
c.3421C>T (p.Leu1141Phe)
c.3286C>T (p.Leu1096Phe)
c.2275C>T (p.Leu759Phe)
 gnomAD v4
12g.101753472G>CCA386292546GNPTABc.3502C>G (p.Leu1168Val)
c.400C>G (n.400C>G)
c.3421C>G (p.Leu1141Val)
c.3286C>G (p.Leu1096Val)
c.2275C>G (p.Leu759Val)
12g.101753472G>TCA386292548GNPTABc.3502C>A (p.Leu1168Ile)
c.400C>A (n.400C>A)
c.3421C>A (p.Leu1141Ile)
c.3286C>A (p.Leu1096Ile)
c.2275C>A (p.Leu759Ile)
12g.101753473A>CCA481317669GNPTABc.3501T>G (p.Val1167=)
c.399T>G (n.399T>G)
c.3420T>G (p.Val1140=)
c.3285T>G (p.Val1095=)
c.2274T>G (p.Val758=)
 gnomAD v4
12g.101753473A>GCA481317667GNPTABc.3501T>C (p.Val1167=)
c.399T>C (n.399T>C)
c.3420T>C (p.Val1140=)
c.3285T>C (p.Val1095=)
c.2274T>C (p.Val758=)
 ClinVar dbSNP
12g.101753473A>TCA481317668GNPTABc.3501T>A (p.Val1167=)
c.399T>A (n.399T>A)
c.3420T>A (p.Val1140=)
c.3285T>A (p.Val1095=)
c.2274T>A (p.Val758=)
12g.101753474A>CCA386292550GNPTABc.3500T>G (p.Val1167Gly)
c.398T>G (n.398T>G)
c.3419T>G (p.Val1140Gly)
c.3284T>G (p.Val1095Gly)
c.2273T>G (p.Val758Gly)
12g.101753474A>GCA386292553GNPTABc.3500T>C (p.Val1167Ala)
c.398T>C (n.398T>C)
c.3419T>C (p.Val1140Ala)
c.3284T>C (p.Val1095Ala)
c.2273T>C (p.Val758Ala)
12g.101753474A>TCA386292555GNPTABc.3500T>A (p.Val1167Asp)
c.398T>A (n.398T>A)
c.3419T>A (p.Val1140Asp)
c.3284T>A (p.Val1095Asp)
c.2273T>A (p.Val758Asp)
12g.101753475C>ACA386292558GNPTABc.3499G>T (p.Val1167Phe)
c.397G>T (n.397G>T)
c.3418G>T (p.Val1140Phe)
c.3283G>T (p.Val1095Phe)
c.2272G>T (p.Val758Phe)
12g.101753475C=CA2058950579GNPTABc.3499G= (p.Val1167=)
c.397G= (n.397G=)
c.3418G= (p.Val1140=)
c.3283G= (p.Val1095=)
c.2272G= (p.Val758=)
12g.101753475C>GCA386292560GNPTABc.3499G>C (p.Val1167Leu)
c.397G>C (n.397G>C)
c.3418G>C (p.Val1140Leu)
c.3283G>C (p.Val1095Leu)
c.2272G>C (p.Val758Leu)
12g.101753475C>TCA386292562GNPTABc.3499G>A (p.Val1167Ile)
c.397G>A (n.397G>A)
c.3418G>A (p.Val1140Ile)
c.3283G>A (p.Val1095Ile)
c.2272G>A (p.Val758Ile)
 gnomAD v4
12g.101753476A>CCA481317672GNPTABc.3498T>G (p.Ala1166=)
c.396T>G (n.396T>G)
c.3417T>G (p.Ala1139=)
c.3282T>G (p.Ala1094=)
c.2271T>G (p.Ala757=)
12g.101753476A>GCA481317673GNPTABc.3498T>C (p.Ala1166=)
c.396T>C (n.396T>C)
c.3417T>C (p.Ala1139=)
c.3282T>C (p.Ala1094=)
c.2271T>C (p.Ala757=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101753476A>TCA481317674GNPTABc.3498T>A (p.Ala1166=)
c.396T>A (n.396T>A)
c.3417T>A (p.Ala1139=)
c.3282T>A (p.Ala1094=)
c.2271T>A (p.Ala757=)
12g.101753476_101753477insTCTTTATGACA915946675GNPTABc.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp)
c.396_397insCATAAAGAT (n.396_397insCATAAAGAT)
c.3417_3418insCATAAAGAT (p.Ala1139_Val1140insHisLysAsp)
c.3282_3283insCATAAAGAT (p.Ala1094_Val1095insHisLysAsp)
c.2271_2272insCATAAAGAT (p.Ala757_Val758insHisLysAsp)
 ClinVar dbSNP
12g.101753477G>ACA386292569GNPTABc.3497C>T (p.Ala1166Val)
c.395C>T (n.395C>T)
c.3416C>T (p.Ala1139Val)
c.3281C>T (p.Ala1094Val)
c.2270C>T (p.Ala757Val)
12g.101753477G>CCA386292568GNPTABc.3497C>G (p.Ala1166Gly)
c.395C>G (n.395C>G)
c.3416C>G (p.Ala1139Gly)
c.3281C>G (p.Ala1094Gly)
c.2270C>G (p.Ala757Gly)
12g.101753477G>TCA386292565GNPTABc.3497C>A (p.Ala1166Asp)
c.395C>A (n.395C>A)
c.3416C>A (p.Ala1139Asp)
c.3281C>A (p.Ala1094Asp)
c.2270C>A (p.Ala757Asp)
12g.101753478C>ACA386292572GNPTABc.3496G>T (p.Ala1166Ser)
c.394G>T (n.394G>T)
c.3415G>T (p.Ala1139Ser)
c.3280G>T (p.Ala1094Ser)
c.2269G>T (p.Ala757Ser)
12g.101753478C=CA2058950580GNPTABc.3496G= (p.Ala1166=)
c.394G= (n.394G=)
c.3415G= (p.Ala1139=)
c.3280G= (p.Ala1094=)
c.2269G= (p.Ala757=)
12g.101753478C>GCA6746135GNPTABc.3496G>C (p.Ala1166Pro)
c.394G>C (n.394G>C)
c.3415G>C (p.Ala1139Pro)
c.3280G>C (p.Ala1094Pro)
c.2269G>C (p.Ala757Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753478C>TCA386292574GNPTABc.3496G>A (p.Ala1166Thr)
c.394G>A (n.394G>A)
c.3415G>A (p.Ala1139Thr)
c.3280G>A (p.Ala1094Thr)
c.2269G>A (p.Ala757Thr)
12g.101753479C>ACA386292577GNPTABc.3495G>T (p.Lys1165Asn)
c.393G>T (n.393G>T)
c.3414G>T (p.Lys1138Asn)
c.3279G>T (p.Lys1093Asn)
c.2268G>T (p.Lys756Asn)
12g.101753479C>GCA386292579GNPTABc.3495G>C (p.Lys1165Asn)
c.393G>C (n.393G>C)
c.3414G>C (p.Lys1138Asn)
c.3279G>C (p.Lys1093Asn)
c.2268G>C (p.Lys756Asn)
12g.101753479C>TCA481317677GNPTABc.3495G>A (p.Lys1165=)
c.393G>A (n.393G>A)
c.3414G>A (p.Lys1138=)
c.3279G>A (p.Lys1093=)
c.2268G>A (p.Lys756=)
 gnomAD v4
12g.101753480T>ACA386292581GNPTABc.3494A>T (p.Lys1165Met)
c.392A>T (n.392A>T)
c.3413A>T (p.Lys1138Met)
c.3278A>T (p.Lys1093Met)
c.2267A>T (p.Lys756Met)
12g.101753480T>CCA386292584GNPTABc.3494A>G (p.Lys1165Arg)
c.392A>G (n.392A>G)
c.3413A>G (p.Lys1138Arg)
c.3278A>G (p.Lys1093Arg)
c.2267A>G (p.Lys756Arg)
 gnomAD v4
12g.101753480T>GCA386292585GNPTABc.3494A>C (p.Lys1165Thr)
c.392A>C (n.392A>C)
c.3413A>C (p.Lys1138Thr)
c.3278A>C (p.Lys1093Thr)
c.2267A>C (p.Lys756Thr)
12g.101753481T>ACA386292588GNPTABc.3493A>T (p.Lys1165Ter)
c.391A>T (n.391A>T)
c.3412A>T (p.Lys1138Ter)
c.3277A>T (p.Lys1093Ter)
c.2266A>T (p.Lys756Ter)
12g.101753481T>CCA386292589GNPTABc.3493A>G (p.Lys1165Glu)
c.391A>G (n.391A>G)
c.3412A>G (p.Lys1138Glu)
c.3277A>G (p.Lys1093Glu)
c.2266A>G (p.Lys756Glu)
12g.101753481T>GCA386292590GNPTABc.3493A>C (p.Lys1165Gln)
c.391A>C (n.391A>C)
c.3412A>C (p.Lys1138Gln)
c.3277A>C (p.Lys1093Gln)
c.2266A>C (p.Lys756Gln)
12g.101753482C>ACA481317683GNPTABc.3492G>T (p.Val1164=)
c.390G>T (n.390G>T)
c.3411G>T (p.Val1137=)
c.3276G>T (p.Val1092=)
c.2265G>T (p.Val755=)
12g.101753482C>GCA481317684GNPTABc.3492G>C (p.Val1164=)
c.390G>C (n.390G>C)
c.3411G>C (p.Val1137=)
c.3276G>C (p.Val1092=)
c.2265G>C (p.Val755=)
12g.101753482C>TCA481317685GNPTABc.3492G>A (p.Val1164=)
c.390G>A (n.390G>A)
c.3411G>A (p.Val1137=)
c.3276G>A (p.Val1092=)
c.2265G>A (p.Val755=)
12g.101753483A=CA2058950581GNPTABc.3491T= (p.Val1164=)
c.389T= (n.389T=)
c.3410T= (p.Val1137=)
c.3275T= (p.Val1092=)
c.2264T= (p.Val755=)
12g.101753483A>CCA386292592GNPTABc.3491T>G (p.Val1164Gly)
c.389T>G (n.389T>G)
c.3410T>G (p.Val1137Gly)
c.3275T>G (p.Val1092Gly)
c.2264T>G (p.Val755Gly)
12g.101753483A>GCA386292594GNPTABc.3491T>C (p.Val1164Ala)
c.389T>C (n.389T>C)
c.3410T>C (p.Val1137Ala)
c.3275T>C (p.Val1092Ala)
c.2264T>C (p.Val755Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.101753483A>TCA386292596GNPTABc.3491T>A (p.Val1164Glu)
c.389T>A (n.389T>A)
c.3410T>A (p.Val1137Glu)
c.3275T>A (p.Val1092Glu)
c.2264T>A (p.Val755Glu)
12g.101753483_101753487delinsACTGTCA2058950582GNPTABc.3487_3491delinsACAGT (p.Thr1163=)
c.385_389delinsACAGT (n.385_389delinsACAGT)
c.3406_3410delinsACAGT (p.Thr1136=)
c.3271_3275delinsACAGT (p.Thr1091=)
c.2260_2264delinsACAGT (p.Thr754=)
12g.101753484C>ACA386292601GNPTABc.3490G>T (p.Val1164Leu)
c.388G>T (n.388G>T)
c.3409G>T (p.Val1137Leu)
c.3274G>T (p.Val1092Leu)
c.2263G>T (p.Val755Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.101753484C=CA2058950583GNPTABc.3490G= (p.Val1164=)
c.388G= (n.388G=)
c.3409G= (p.Val1137=)
c.3274G= (p.Val1092=)
c.2263G= (p.Val755=)
12g.101753484C>GCA386292603GNPTABc.3490G>C (p.Val1164Leu)
c.388G>C (n.388G>C)
c.3409G>C (p.Val1137Leu)
c.3274G>C (p.Val1092Leu)
c.2263G>C (p.Val755Leu)
12g.101753484C>TCA386292605GNPTABc.3490G>A (p.Val1164Met)
c.388G>A (n.388G>A)
c.3409G>A (p.Val1137Met)
c.3274G>A (p.Val1092Met)
c.2263G>A (p.Val755Met)
12g.101753487_101753490delCA343403GNPTABc.3487_3490del (p.Thr1163Ter)
c.385_388del (n.385_388del)
c.3406_3409del (p.Thr1136Ter)
c.3271_3274del (p.Thr1091Ter)
c.2260_2263del (p.Thr754Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753485T>ACA481317695GNPTABc.3489A>T (p.Thr1163=)
c.387A>T (n.387A>T)
c.3408A>T (p.Thr1136=)
c.3273A>T (p.Thr1091=)
c.2262A>T (p.Thr754=)
 gnomAD v4
12g.101753485T>CCA481317697GNPTABc.3489A>G (p.Thr1163=)
c.387A>G (n.387A>G)
c.3408A>G (p.Thr1136=)
c.3273A>G (p.Thr1091=)
c.2262A>G (p.Thr754=)
 ClinVar gnomAD v4
12g.101753485T>GCA6746136GNPTABc.3489A>C (p.Thr1163=)
c.387A>C (n.387A>C)
c.3408A>C (p.Thr1136=)
c.3273A>C (p.Thr1091=)
c.2262A>C (p.Thr754=)
 dbSNP ExAC gnomAD v2
12g.101753485T=CA2058950584GNPTABc.3489A= (p.Thr1163=)
c.387A= (n.387A=)
c.3408A= (p.Thr1136=)
c.3273A= (p.Thr1091=)
c.2262A= (p.Thr754=)
12g.101753485_101753486delinsTGCA2058950585GNPTABc.3488_3489delinsCA (p.Thr1163=)
c.386_387delinsCA (n.386_387delinsCA)
c.3407_3408delinsCA (p.Thr1136=)
c.3272_3273delinsCA (p.Thr1091=)
c.2261_2262delinsCA (p.Thr754=)
12g.101753486delCA913191212GNPTABc.3488del (p.Thr1163LysfsTer2)
c.386del (n.386del)
c.3407del (p.Thr1136LysfsTer2)
c.3272del (p.Thr1091LysfsTer2)
c.2261del (p.Thr754LysfsTer2)
 ClinVar dbSNP
12g.101753486G>ACA386292610GNPTABc.3488C>T (p.Thr1163Ile)
c.386C>T (n.386C>T)
c.3407C>T (p.Thr1136Ile)
c.3272C>T (p.Thr1091Ile)
c.2261C>T (p.Thr754Ile)
12g.101753486G>CCA386292612GNPTABc.3488C>G (p.Thr1163Arg)
c.386C>G (n.386C>G)
c.3407C>G (p.Thr1136Arg)
c.3272C>G (p.Thr1091Arg)
c.2261C>G (p.Thr754Arg)
12g.101753486G=CA2058950586GNPTABc.3488C= (p.Thr1163=)
c.386C= (n.386C=)
c.3407C= (p.Thr1136=)
c.3272C= (p.Thr1091=)
c.2261C= (p.Thr754=)
12g.101753486G>TCA386292614GNPTABc.3488C>A (p.Thr1163Lys)
c.386C>A (n.386C>A)
c.3407C>A (p.Thr1136Lys)
c.3272C>A (p.Thr1091Lys)
c.2261C>A (p.Thr754Lys)
 dbSNP gnomAD v4
12g.101753487T>ACA386292617GNPTABc.3487A>T (p.Thr1163Ser)
c.385A>T (n.385A>T)
c.3406A>T (p.Thr1136Ser)
c.3271A>T (p.Thr1091Ser)
c.2260A>T (p.Thr754Ser)
12g.101753487T>CCA386292620GNPTABc.3487A>G (p.Thr1163Ala)
c.385A>G (n.385A>G)
c.3406A>G (p.Thr1136Ala)
c.3271A>G (p.Thr1091Ala)
c.2260A>G (p.Thr754Ala)
12g.101753487T>GCA386292622GNPTABc.3487A>C (p.Thr1163Pro)
c.385A>C (n.385A>C)
c.3406A>C (p.Thr1136Pro)
c.3271A>C (p.Thr1091Pro)
c.2260A>C (p.Thr754Pro)
12g.101753488_101753489dupCA2695217190GNPTABc.3486_3487dup (p.Thr1163ArgfsTer3)
c.384_385dup (n.384_385dup)
c.3405_3406dup (p.Thr1136ArgfsTer3)
c.3270_3271dup (p.Thr1091ArgfsTer3)
c.2259_2260dup (p.Thr754ArgfsTer3)
12g.101753488C>ACA386292625GNPTABc.3486G>T (p.Gln1162His)
c.384G>T (n.384G>T)
c.3405G>T (p.Gln1135His)
c.3270G>T (p.Gln1090His)
c.2259G>T (p.Gln753His)
 gnomAD v4
12g.101753488C>GCA386292627GNPTABc.3486G>C (p.Gln1162His)
c.384G>C (n.384G>C)
c.3405G>C (p.Gln1135His)
c.3270G>C (p.Gln1090His)
c.2259G>C (p.Gln753His)
12g.101753488C>TCA481317700GNPTABc.3486G>A (p.Gln1162=)
c.384G>A (n.384G>A)
c.3405G>A (p.Gln1135=)
c.3270G>A (p.Gln1090=)
c.2259G>A (p.Gln753=)
 ClinVar
12g.101753489T>ACA386292635GNPTABc.3485A>T (p.Gln1162Leu)
c.383A>T (n.383A>T)
c.3404A>T (p.Gln1135Leu)
c.3269A>T (p.Gln1090Leu)
c.2258A>T (p.Gln753Leu)
12g.101753489T>CCA386292638GNPTABc.3485A>G (p.Gln1162Arg)
c.383A>G (n.383A>G)
c.3404A>G (p.Gln1135Arg)
c.3269A>G (p.Gln1090Arg)
c.2258A>G (p.Gln753Arg)
12g.101753489T>GCA386292641GNPTABc.3485A>C (p.Gln1162Pro)
c.383A>C (n.383A>C)
c.3404A>C (p.Gln1135Pro)
c.3269A>C (p.Gln1090Pro)
c.2258A>C (p.Gln753Pro)
12g.101753490G>ACA386292649GNPTABc.3484C>T (p.Gln1162Ter)
c.382C>T (n.382C>T)
c.3403C>T (p.Gln1135Ter)
c.3268C>T (p.Gln1090Ter)
c.2257C>T (p.Gln753Ter)
12g.101753490G>CCA386292644GNPTABc.3484C>G (p.Gln1162Glu)
c.382C>G (n.382C>G)
c.3403C>G (p.Gln1135Glu)
c.3268C>G (p.Gln1090Glu)
c.2257C>G (p.Gln753Glu)
12g.101753490G>TCA386292647GNPTABc.3484C>A (p.Gln1162Lys)
c.382C>A (n.382C>A)
c.3403C>A (p.Gln1135Lys)
c.3268C>A (p.Gln1090Lys)
c.2257C>A (p.Gln753Lys)
12g.101753491A>CCA481317704GNPTABc.3483T>G (p.Ala1161=)
c.381T>G (n.381T>G)
c.3402T>G (p.Ala1134=)
c.3267T>G (p.Ala1089=)
c.2256T>G (p.Ala752=)
12g.101753491A>GCA481317706GNPTABc.3483T>C (p.Ala1161=)
c.381T>C (n.381T>C)
c.3402T>C (p.Ala1134=)
c.3267T>C (p.Ala1089=)
c.2256T>C (p.Ala752=)
12g.101753491A>TCA481317707GNPTABc.3483T>A (p.Ala1161=)
c.381T>A (n.381T>A)
c.3402T>A (p.Ala1134=)
c.3267T>A (p.Ala1089=)
c.2256T>A (p.Ala752=)
12g.101753492G>ACA386292651GNPTABc.3482C>T (p.Ala1161Val)
c.380C>T (n.380C>T)
c.3401C>T (p.Ala1134Val)
c.3266C>T (p.Ala1089Val)
c.2255C>T (p.Ala752Val)
12g.101753492G>CCA386292655GNPTABc.3482C>G (p.Ala1161Gly)
c.380C>G (n.380C>G)
c.3401C>G (p.Ala1134Gly)
c.3266C>G (p.Ala1089Gly)
c.2255C>G (p.Ala752Gly)
 dbSNP
12g.101753492G=CA2058950587GNPTABc.3482C= (p.Ala1161=)
c.380C= (n.380C=)
c.3401C= (p.Ala1134=)
c.3266C= (p.Ala1089=)
c.2255C= (p.Ala752=)
12g.101753492G>TCA386292658GNPTABc.3482C>A (p.Ala1161Asp)
c.380C>A (n.380C>A)
c.3401C>A (p.Ala1134Asp)
c.3266C>A (p.Ala1089Asp)
c.2255C>A (p.Ala752Asp)
12g.101753493C>ACA6746137GNPTABc.3481G>T (p.Ala1161Ser)
c.379G>T (n.379G>T)
c.3400G>T (p.Ala1134Ser)
c.3265G>T (p.Ala1089Ser)
c.2254G>T (p.Ala752Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753493C=CA2058950588GNPTABc.3481G= (p.Ala1161=)
c.379G= (n.379G=)
c.3400G= (p.Ala1134=)
c.3265G= (p.Ala1089=)
c.2254G= (p.Ala752=)
12g.101753493C>GCA386292663GNPTABc.3481G>C (p.Ala1161Pro)
c.379G>C (n.379G>C)
c.3400G>C (p.Ala1134Pro)
c.3265G>C (p.Ala1089Pro)
c.2254G>C (p.Ala752Pro)
12g.101753493C>TCA386292665GNPTABc.3481G>A (p.Ala1161Thr)
c.379G>A (n.379G>A)
c.3400G>A (p.Ala1134Thr)
c.3265G>A (p.Ala1089Thr)
c.2254G>A (p.Ala752Thr)
12g.101753494A=CA2058950589GNPTABc.3480T= (p.Asp1160=)
c.378T= (n.378T=)
c.3399T= (p.Asp1133=)
c.3264T= (p.Asp1088=)
c.2253T= (p.Asp751=)
12g.101753494A>CCA386292670GNPTABc.3480T>G (p.Asp1160Glu)
c.378T>G (n.378T>G)
c.3399T>G (p.Asp1133Glu)
c.3264T>G (p.Asp1088Glu)
c.2253T>G (p.Asp751Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.101753494A>GCA481317712GNPTABc.3480T>C (p.Asp1160=)
c.378T>C (n.378T>C)
c.3399T>C (p.Asp1133=)
c.3264T>C (p.Asp1088=)
c.2253T>C (p.Asp751=)
12g.101753494A>TCA386292671GNPTABc.3480T>A (p.Asp1160Glu)
c.378T>A (n.378T>A)
c.3399T>A (p.Asp1133Glu)
c.3264T>A (p.Asp1088Glu)
c.2253T>A (p.Asp751Glu)
12g.101753495T>ACA386292676GNPTABc.3479A>T (p.Asp1160Val)
c.377A>T (n.377A>T)
c.3398A>T (p.Asp1133Val)
c.3263A>T (p.Asp1088Val)
c.2252A>T (p.Asp751Val)
12g.101753495T>CCA386292679GNPTABc.3479A>G (p.Asp1160Gly)
c.377A>G (n.377A>G)
c.3398A>G (p.Asp1133Gly)
c.3263A>G (p.Asp1088Gly)
c.2252A>G (p.Asp751Gly)
12g.101753495T>GCA386292682GNPTABc.3479A>C (p.Asp1160Ala)
c.377A>C (n.377A>C)
c.3398A>C (p.Asp1133Ala)
c.3263A>C (p.Asp1088Ala)
c.2252A>C (p.Asp751Ala)
12g.101753496C>ACA386292683GNPTABc.3478G>T (p.Asp1160Tyr)
c.376G>T (n.376G>T)
c.3397G>T (p.Asp1133Tyr)
c.3262G>T (p.Asp1088Tyr)
c.2251G>T (p.Asp751Tyr)
12g.101753496C>GCA386292687GNPTABc.3478G>C (p.Asp1160His)
c.376G>C (n.376G>C)
c.3397G>C (p.Asp1133His)
c.3262G>C (p.Asp1088His)
c.2251G>C (p.Asp751His)
12g.101753496C>TCA386292686GNPTABc.3478G>A (p.Asp1160Asn)
c.376G>A (n.376G>A)
c.3397G>A (p.Asp1133Asn)
c.3262G>A (p.Asp1088Asn)
c.2251G>A (p.Asp751Asn)
12g.101753497T>ACA386292689GNPTABc.3477A>T (p.Lys1159Asn)
c.375A>T (n.375A>T)
c.3396A>T (p.Lys1132Asn)
c.3261A>T (p.Lys1087Asn)
c.2250A>T (p.Lys750Asn)
12g.101753497T>CCA481317713GNPTABc.3477A>G (p.Lys1159=)
c.375A>G (n.375A>G)
c.3396A>G (p.Lys1132=)
c.3261A>G (p.Lys1087=)
c.2250A>G (p.Lys750=)
12g.101753497T>GCA386292690GNPTABc.3477A>C (p.Lys1159Asn)
c.375A>C (n.375A>C)
c.3396A>C (p.Lys1132Asn)
c.3261A>C (p.Lys1087Asn)
c.2250A>C (p.Lys750Asn)
12g.101753498T>ACA386292692GNPTABc.3476A>T (p.Lys1159Ile)
c.374A>T (n.374A>T)
c.3395A>T (p.Lys1132Ile)
c.3260A>T (p.Lys1087Ile)
c.2249A>T (p.Lys750Ile)
12g.101753498T>CCA6746138GNPTABc.3476A>G (p.Lys1159Arg)
c.374A>G (n.374A>G)
c.3395A>G (p.Lys1132Arg)
c.3260A>G (p.Lys1087Arg)
c.2249A>G (p.Lys750Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101753498T>GCA386292695GNPTABc.3476A>C (p.Lys1159Thr)
c.374A>C (n.374A>C)
c.3395A>C (p.Lys1132Thr)
c.3260A>C (p.Lys1087Thr)
c.2249A>C (p.Lys750Thr)
12g.101753498T=CA2058950590GNPTABc.3476A= (p.Lys1159=)
c.374A= (n.374A=)
c.3395A= (p.Lys1132=)
c.3260A= (p.Lys1087=)
c.2249A= (p.Lys750=)
12g.101753498_101753500delinsTTACA2058950591GNPTABc.3474_3476delinsTAA (p.His1158=)
c.372_374delinsTAA (n.372_374delinsTAA)
c.3393_3395delinsTAA (p.His1131=)
c.3258_3260delinsTAA (p.His1086=)
c.2247_2249delinsTAA (p.His749=)
12g.101753499T>ACA386292696GNPTABc.3475A>T (p.Lys1159Ter)
c.373A>T (n.373A>T)
c.3394A>T (p.Lys1132Ter)
c.3259A>T (p.Lys1087Ter)
c.2248A>T (p.Lys750Ter)
12g.101753499T>CCA386292698GNPTABc.3475A>G (p.Lys1159Glu)
c.373A>G (n.373A>G)
c.3394A>G (p.Lys1132Glu)
c.3259A>G (p.Lys1087Glu)
c.2248A>G (p.Lys750Glu)
 gnomAD v4
12g.101753499T>GCA386292699GNPTABc.3475A>C (p.Lys1159Gln)
c.373A>C (n.373A>C)
c.3394A>C (p.Lys1132Gln)
c.3259A>C (p.Lys1087Gln)
c.2248A>C (p.Lys750Gln)
12g.101753500_101753501delCA340013GNPTABc.3474_3475del (p.His1158GlnfsTer15)
c.372_373del (n.372_373del)
c.3393_3394del (p.His1131GlnfsTer15)
c.3258_3259del (p.His1086GlnfsTer15)
c.2247_2248del (p.His749GlnfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753500A>CCA386292700GNPTABc.3474T>G (p.His1158Gln)
c.372T>G (n.372T>G)
c.3393T>G (p.His1131Gln)
c.3258T>G (p.His1086Gln)
c.2247T>G (p.His749Gln)
12g.101753500A>GCA481317716GNPTABc.3474T>C (p.His1158=)
c.372T>C (n.372T>C)
c.3393T>C (p.His1131=)
c.3258T>C (p.His1086=)
c.2247T>C (p.His749=)
12g.101753500A>TCA386292701GNPTABc.3474T>A (p.His1158Gln)
c.372T>A (n.372T>A)
c.3393T>A (p.His1131Gln)
c.3258T>A (p.His1086Gln)
c.2247T>A (p.His749Gln)
12g.101753501T>ACA386292704GNPTABc.3473A>T (p.His1158Leu)
c.371A>T (n.371A>T)
c.3392A>T (p.His1131Leu)
c.3257A>T (p.His1086Leu)
c.2246A>T (p.His749Leu)
12g.101753501T>CCA386292705GNPTABc.3473A>G (p.His1158Arg)
c.371A>G (n.371A>G)
c.3392A>G (p.His1131Arg)
c.3257A>G (p.His1086Arg)
c.2246A>G (p.His749Arg)
12g.101753501T>GCA386292706GNPTABc.3473A>C (p.His1158Pro)
c.371A>C (n.371A>C)
c.3392A>C (p.His1131Pro)
c.3257A>C (p.His1086Pro)
c.2246A>C (p.His749Pro)
 gnomAD v4
12g.101753502G>ACA386292712GNPTABc.3472C>T (p.His1158Tyr)
c.370C>T (n.370C>T)
c.3391C>T (p.His1131Tyr)
c.3256C>T (p.His1086Tyr)
c.2245C>T (p.His749Tyr)
12g.101753502G>CCA386292710GNPTABc.3472C>G (p.His1158Asp)
c.370C>G (n.370C>G)
c.3391C>G (p.His1131Asp)
c.3256C>G (p.His1086Asp)
c.2245C>G (p.His749Asp)
12g.101753502G>TCA386292709GNPTABc.3472C>A (p.His1158Asn)
c.370C>A (n.370C>A)
c.3391C>A (p.His1131Asn)
c.3256C>A (p.His1086Asn)
c.2245C>A (p.His749Asn)
12g.101753503A>CCA386292713GNPTABc.3471T>G (p.Asn1157Lys)
c.369T>G (n.369T>G)
c.3390T>G (p.Asn1130Lys)
c.3255T>G (p.Asn1085Lys)
c.2244T>G (p.Asn748Lys)
12g.101753503A>GCA481317718GNPTABc.3471T>C (p.Asn1157=)
c.369T>C (n.369T>C)
c.3390T>C (p.Asn1130=)
c.3255T>C (p.Asn1085=)
c.2244T>C (p.Asn748=)
 gnomAD v4
12g.101753503A>TCA386292715GNPTABc.3471T>A (p.Asn1157Lys)
c.369T>A (n.369T>A)
c.3390T>A (p.Asn1130Lys)
c.3255T>A (p.Asn1085Lys)
c.2244T>A (p.Asn748Lys)
12g.101753504T>ACA242447925GNPTABc.3470A>T (p.Asn1157Ile)
c.368A>T (n.368A>T)
c.3389A>T (p.Asn1130Ile)
c.3254A>T (p.Asn1085Ile)
c.2243A>T (p.Asn748Ile)
 dbSNP gnomAD v4
12g.101753504T>CCA386292717GNPTABc.3470A>G (p.Asn1157Ser)
c.368A>G (n.368A>G)
c.3389A>G (p.Asn1130Ser)
c.3254A>G (p.Asn1085Ser)
c.2243A>G (p.Asn748Ser)
 gnomAD v4
12g.101753504T>GCA386292718GNPTABc.3470A>C (p.Asn1157Thr)
c.368A>C (n.368A>C)
c.3389A>C (p.Asn1130Thr)
c.3254A>C (p.Asn1085Thr)
c.2243A>C (p.Asn748Thr)
12g.101753504T=CA2058950592GNPTABc.3470A= (p.Asn1157=)
c.368A= (n.368A=)
c.3389A= (p.Asn1130=)
c.3254A= (p.Asn1085=)
c.2243A= (p.Asn748=)
12g.101753505T>ACA386292721GNPTABc.3469A>T (p.Asn1157Tyr)
c.367A>T (n.367A>T)
c.3388A>T (p.Asn1130Tyr)
c.3253A>T (p.Asn1085Tyr)
c.2242A>T (p.Asn748Tyr)
12g.101753505T>CCA386292722GNPTABc.3469A>G (p.Asn1157Asp)
c.367A>G (n.367A>G)
c.3388A>G (p.Asn1130Asp)
c.3253A>G (p.Asn1085Asp)
c.2242A>G (p.Asn748Asp)
12g.101753505T>GCA386292724GNPTABc.3469A>C (p.Asn1157His)
c.367A>C (n.367A>C)
c.3388A>C (p.Asn1130His)
c.3253A>C (p.Asn1085His)
c.2242A>C (p.Asn748His)
12g.101753506G>ACA481317726GNPTABc.3468C>T (p.His1156=)
c.366C>T (n.366C>T)
c.3387C>T (p.His1129=)
c.3252C>T (p.His1084=)
c.2241C>T (p.His747=)
12g.101753506G>CCA386292725GNPTABc.3468C>G (p.His1156Gln)
c.366C>G (n.366C>G)
c.3387C>G (p.His1129Gln)
c.3252C>G (p.His1084Gln)
c.2241C>G (p.His747Gln)
12g.101753506G>TCA386292726GNPTABc.3468C>A (p.His1156Gln)
c.366C>A (n.366C>A)
c.3387C>A (p.His1129Gln)
c.3252C>A (p.His1084Gln)
c.2241C>A (p.His747Gln)
12g.101753507T>ACA386292728GNPTABc.3467A>T (p.His1156Leu)
c.365A>T (n.365A>T)
c.3386A>T (p.His1129Leu)
c.3251A>T (p.His1084Leu)
c.2240A>T (p.His747Leu)
12g.101753507T>CCA386292730GNPTABc.3467A>G (p.His1156Arg)
c.365A>G (n.365A>G)
c.3386A>G (p.His1129Arg)
c.3251A>G (p.His1084Arg)
c.2240A>G (p.His747Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.101753507T>GCA386292731GNPTABc.3467A>C (p.His1156Pro)
c.365A>C (n.365A>C)
c.3386A>C (p.His1129Pro)
c.3251A>C (p.His1084Pro)
c.2240A>C (p.His747Pro)
12g.101753507T=CA2058950593GNPTABc.3467A= (p.His1156=)
c.365A= (n.365A=)
c.3386A= (p.His1129=)
c.3251A= (p.His1084=)
c.2240A= (p.His747=)
12g.101753508G>ACA386292735GNPTABc.3466C>T (p.His1156Tyr)
c.364C>T (n.364C>T)
c.3385C>T (p.His1129Tyr)
c.3250C>T (p.His1084Tyr)
c.2239C>T (p.His747Tyr)
 gnomAD v4
12g.101753508G>CCA386292737GNPTABc.3466C>G (p.His1156Asp)
c.364C>G (n.364C>G)
c.3385C>G (p.His1129Asp)
c.3250C>G (p.His1084Asp)
c.2239C>G (p.His747Asp)
 gnomAD v4
12g.101753508G>TCA386292733GNPTABc.3466C>A (p.His1156Asn)
c.364C>A (n.364C>A)
c.3385C>A (p.His1129Asn)
c.3250C>A (p.His1084Asn)
c.2239C>A (p.His747Asn)
12g.101753509G>ACA481317731GNPTABc.3465C>T (p.Asp1155=)
c.363C>T (n.363C>T)
c.3384C>T (p.Asp1128=)
c.3249C>T (p.Asp1083=)
c.2238C>T (p.Asp746=)
 gnomAD v4
12g.101753509G>CCA386292738GNPTABc.3465C>G (p.Asp1155Glu)
c.363C>G (n.363C>G)
c.3384C>G (p.Asp1128Glu)
c.3249C>G (p.Asp1083Glu)
c.2238C>G (p.Asp746Glu)
12g.101753509G>TCA386292740GNPTABc.3465C>A (p.Asp1155Glu)
c.363C>A (n.363C>A)
c.3384C>A (p.Asp1128Glu)
c.3249C>A (p.Asp1083Glu)
c.2238C>A (p.Asp746Glu)
12g.101753510T>ACA386292742GNPTABc.3464A>T (p.Asp1155Val)
c.362A>T (n.362A>T)
c.3383A>T (p.Asp1128Val)
c.3248A>T (p.Asp1083Val)
c.2237A>T (p.Asp746Val)
12g.101753510T>CCA386292744GNPTABc.3464A>G (p.Asp1155Gly)
c.362A>G (n.362A>G)
c.3383A>G (p.Asp1128Gly)
c.3248A>G (p.Asp1083Gly)
c.2237A>G (p.Asp746Gly)
12g.101753510T>GCA386292745GNPTABc.3464A>C (p.Asp1155Ala)
c.362A>C (n.362A>C)
c.3383A>C (p.Asp1128Ala)
c.3248A>C (p.Asp1083Ala)
c.2237A>C (p.Asp746Ala)
12g.101753511C>ACA386292747GNPTABc.3463G>T (p.Asp1155Tyr)
c.361G>T (n.361G>T)
c.3382G>T (p.Asp1128Tyr)
c.3247G>T (p.Asp1083Tyr)
c.2236G>T (p.Asp746Tyr)
12g.101753511C=CA2058950594GNPTABc.3463G= (p.Asp1155=)
c.361G= (n.361G=)
c.3382G= (p.Asp1128=)
c.3247G= (p.Asp1083=)
c.2236G= (p.Asp746=)
12g.101753511C>GCA386292749GNPTABc.3463G>C (p.Asp1155His)
c.361G>C (n.361G>C)
c.3382G>C (p.Asp1128His)
c.3247G>C (p.Asp1083His)
c.2236G>C (p.Asp746His)
 dbSNP
12g.101753511C>TCA386292750GNPTABc.3463G>A (p.Asp1155Asn)
c.361G>A (n.361G>A)
c.3382G>A (p.Asp1128Asn)
c.3247G>A (p.Asp1083Asn)
c.2236G>A (p.Asp746Asn)
12g.101753512A>CCA386292752GNPTABc.3462T>G (p.Ile1154Met)
c.360T>G (n.360T>G)
c.3381T>G (p.Ile1127Met)
c.3246T>G (p.Ile1082Met)
c.2235T>G (p.Ile745Met)
12g.101753512A>GCA481317732GNPTABc.3462T>C (p.Ile1154=)
c.360T>C (n.360T>C)
c.3381T>C (p.Ile1127=)
c.3246T>C (p.Ile1082=)
c.2235T>C (p.Ile745=)
12g.101753512A>TCA481317734GNPTABc.3462T>A (p.Ile1154=)
c.360T>A (n.360T>A)
c.3381T>A (p.Ile1127=)
c.3246T>A (p.Ile1082=)
c.2235T>A (p.Ile745=)
12g.101753513A>CCA386292755GNPTABc.3461T>G (p.Ile1154Ser)
c.359T>G (n.359T>G)
c.3380T>G (p.Ile1127Ser)
c.3245T>G (p.Ile1082Ser)
c.2234T>G (p.Ile745Ser)
12g.101753513A>GCA386292756GNPTABc.3461T>C (p.Ile1154Thr)
c.359T>C (n.359T>C)
c.3380T>C (p.Ile1127Thr)
c.3245T>C (p.Ile1082Thr)
c.2234T>C (p.Ile745Thr)
12g.101753513A>TCA386292758GNPTABc.3461T>A (p.Ile1154Asn)
c.359T>A (n.359T>A)
c.3380T>A (p.Ile1127Asn)
c.3245T>A (p.Ile1082Asn)
c.2234T>A (p.Ile745Asn)
12g.101753514T>ACA386292762GNPTABc.3460A>T (p.Ile1154Phe)
c.358A>T (n.358A>T)
c.3379A>T (p.Ile1127Phe)
c.3244A>T (p.Ile1082Phe)
c.2233A>T (p.Ile745Phe)
12g.101753514T>CCA386292759GNPTABc.3460A>G (p.Ile1154Val)
c.358A>G (n.358A>G)
c.3379A>G (p.Ile1127Val)
c.3244A>G (p.Ile1082Val)
c.2233A>G (p.Ile745Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101753514T>GCA386292760GNPTABc.3460A>C (p.Ile1154Leu)
c.358A>C (n.358A>C)
c.3379A>C (p.Ile1127Leu)
c.3244A>C (p.Ile1082Leu)
c.2233A>C (p.Ile745Leu)
12g.101753514T=CA2058950595GNPTABc.3460A= (p.Ile1154=)
c.358A= (n.358A=)
c.3379A= (p.Ile1127=)
c.3244A= (p.Ile1082=)
c.2233A= (p.Ile745=)
12g.101753517_101753519delCA2695217191GNPTABc.3458_3460del (p.Asn1153del)
c.356_358del (n.356_358del)
c.3377_3379del (p.Asn1126del)
c.3242_3244del (p.Asn1081del)
c.2231_2233del (p.Asn744del)
12g.101753515G>ACA242447930GNPTABc.3459C>T (p.Asn1153=)
c.357C>T (n.357C>T)
c.3378C>T (p.Asn1126=)
c.3243C>T (p.Asn1081=)
c.2232C>T (p.Asn744=)
 dbSNP gnomAD v4
12g.101753515G>CCA386292764GNPTABc.3459C>G (p.Asn1153Lys)
c.357C>G (n.357C>G)
c.3378C>G (p.Asn1126Lys)
c.3243C>G (p.Asn1081Lys)
c.2232C>G (p.Asn744Lys)
12g.101753515G=CA2058950596GNPTABc.3459C= (p.Asn1153=)
c.357C= (n.357C=)
c.3378C= (p.Asn1126=)
c.3243C= (p.Asn1081=)
c.2232C= (p.Asn744=)
12g.101753515G>TCA386292765GNPTABc.3459C>A (p.Asn1153Lys)
c.357C>A (n.357C>A)
c.3378C>A (p.Asn1126Lys)
c.3243C>A (p.Asn1081Lys)
c.2232C>A (p.Asn744Lys)
12g.101753515_101753518dupCA2573332443GNPTABc.3456_3459dup (p.Ile1154GlnfsTer3)
c.354_357dup (n.354_357dup)
c.3375_3378dup (p.Ile1127GlnfsTer3)
c.3240_3243dup (p.Ile1082GlnfsTer3)
c.2229_2232dup (p.Ile745GlnfsTer3)

Number of alleles fetched