Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178781199C>ACA349483419TTNc.3445G>T (p.Asp1149Tyr)
c.3307G>T (p.Asp1103Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3352G>T (p.Asp1118Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3448G>T (p.Asp1150Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178781199C=CA1310619521TTNc.3445G= (p.Asp1149=)
c.3307G= (p.Asp1103=)
c.3493G= (p.Asp1165=)
c.3352G= (p.Asp1118=)
c.3490G= (p.Asp1164=)
c.3448G= (p.Asp1150=)
2g.178781199C>GCA349483421TTNc.3445G>C (p.Asp1149His)
c.3307G>C (p.Asp1103His)
c.3493G>C (p.Asp1165His)
c.3352G>C (p.Asp1118His)
c.3490G>C (p.Asp1164His)
c.3448G>C (p.Asp1150His)
2g.178781199C>TCA179371TTNc.3445G>A (p.Asp1149Asn)
c.3307G>A (p.Asp1103Asn)
c.3493G>A (p.Asp1165Asn)
c.3352G>A (p.Asp1118Asn)
c.3490G>A (p.Asp1164Asn)
c.3448G>A (p.Asp1150Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178781200A>CCA430110630TTNc.3444T>G (p.Ala1148=)
c.3306T>G (p.Ala1102=)
c.3492T>G (p.Ala1164=)
c.3351T>G (p.Ala1117=)
c.3489T>G (p.Ala1163=)
c.3447T>G (p.Ala1149=)
2g.178781200A>GCA430110632TTNc.3444T>C (p.Ala1148=)
c.3306T>C (p.Ala1102=)
c.3492T>C (p.Ala1164=)
c.3351T>C (p.Ala1117=)
c.3489T>C (p.Ala1163=)
c.3447T>C (p.Ala1149=)
gnomAD v4
2g.178781200A>TCA430110634TTNc.3444T>A (p.Ala1148=)
c.3306T>A (p.Ala1102=)
c.3492T>A (p.Ala1164=)
c.3351T>A (p.Ala1117=)
c.3489T>A (p.Ala1163=)
c.3447T>A (p.Ala1149=)
2g.178781201G>ACA349483423TTNc.3443C>T (p.Ala1148Val)
c.3305C>T (p.Ala1102Val)
c.3491C>T (p.Ala1164Val)
c.3350C>T (p.Ala1117Val)
c.3488C>T (p.Ala1163Val)
c.3446C>T (p.Ala1149Val)
gnomAD v4
2g.178781201G>CCA349483425TTNc.3443C>G (p.Ala1148Gly)
c.3305C>G (p.Ala1102Gly)
c.3491C>G (p.Ala1164Gly)
c.3350C>G (p.Ala1117Gly)
c.3488C>G (p.Ala1163Gly)
c.3446C>G (p.Ala1149Gly)
2g.178781201G>TCA349483427TTNc.3443C>A (p.Ala1148Asp)
c.3305C>A (p.Ala1102Asp)
c.3491C>A (p.Ala1164Asp)
c.3350C>A (p.Ala1117Asp)
c.3488C>A (p.Ala1163Asp)
c.3446C>A (p.Ala1149Asp)
2g.178781202C>ACA349483428TTNc.3442G>T (p.Ala1148Ser)
c.3304G>T (p.Ala1102Ser)
c.3490G>T (p.Ala1164Ser)
c.3349G>T (p.Ala1117Ser)
c.3487G>T (p.Ala1163Ser)
c.3445G>T (p.Ala1149Ser)
2g.178781202C=CA1310619522TTNc.3442G= (p.Ala1148=)
c.3304G= (p.Ala1102=)
c.3490G= (p.Ala1164=)
c.3349G= (p.Ala1117=)
c.3487G= (p.Ala1163=)
c.3445G= (p.Ala1149=)
2g.178781202C>GCA349483429TTNc.3442G>C (p.Ala1148Pro)
c.3304G>C (p.Ala1102Pro)
c.3490G>C (p.Ala1164Pro)
c.3349G>C (p.Ala1117Pro)
c.3487G>C (p.Ala1163Pro)
c.3445G>C (p.Ala1149Pro)
2g.178781202C>TCA60980309TTNc.3442G>A (p.Ala1148Thr)
c.3304G>A (p.Ala1102Thr)
c.3490G>A (p.Ala1164Thr)
c.3349G>A (p.Ala1117Thr)
c.3487G>A (p.Ala1163Thr)
c.3445G>A (p.Ala1149Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178781203A=CA1310619523TTNc.3441T= (p.Phe1147=)
c.3303T= (p.Phe1101=)
c.3489T= (p.Phe1163=)
c.3348T= (p.Phe1116=)
c.3486T= (p.Phe1162=)
c.3444T= (p.Phe1148=)
2g.178781203A>CCA349483430TTNc.3441T>G (p.Phe1147Leu)
c.3303T>G (p.Phe1101Leu)
c.3489T>G (p.Phe1163Leu)
c.3348T>G (p.Phe1116Leu)
c.3486T>G (p.Phe1162Leu)
c.3444T>G (p.Phe1148Leu)
2g.178781203A>GCA430110645TTNc.3441T>C (p.Phe1147=)
c.3303T>C (p.Phe1101=)
c.3489T>C (p.Phe1163=)
c.3348T>C (p.Phe1116=)
c.3486T>C (p.Phe1162=)
c.3444T>C (p.Phe1148=)
dbSNP
2g.178781203A>TCA349483431TTNc.3441T>A (p.Phe1147Leu)
c.3303T>A (p.Phe1101Leu)
c.3489T>A (p.Phe1163Leu)
c.3348T>A (p.Phe1116Leu)
c.3486T>A (p.Phe1162Leu)
c.3444T>A (p.Phe1148Leu)
2g.178781204A>CCA349483433TTNc.3440T>G (p.Phe1147Cys)
c.3302T>G (p.Phe1101Cys)
c.3488T>G (p.Phe1163Cys)
c.3347T>G (p.Phe1116Cys)
c.3485T>G (p.Phe1162Cys)
c.3443T>G (p.Phe1148Cys)
2g.178781204A>GCA349483434TTNc.3440T>C (p.Phe1147Ser)
c.3302T>C (p.Phe1101Ser)
c.3488T>C (p.Phe1163Ser)
c.3347T>C (p.Phe1116Ser)
c.3485T>C (p.Phe1162Ser)
c.3443T>C (p.Phe1148Ser)
gnomAD v4
2g.178781204A>TCA349483436TTNc.3440T>A (p.Phe1147Tyr)
c.3302T>A (p.Phe1101Tyr)
c.3488T>A (p.Phe1163Tyr)
c.3347T>A (p.Phe1116Tyr)
c.3485T>A (p.Phe1162Tyr)
c.3443T>A (p.Phe1148Tyr)
2g.178781205A>CCA349483442TTNc.3439T>G (p.Phe1147Val)
c.3301T>G (p.Phe1101Val)
c.3487T>G (p.Phe1163Val)
c.3346T>G (p.Phe1116Val)
c.3484T>G (p.Phe1162Val)
c.3442T>G (p.Phe1148Val)
2g.178781205A>GCA349483440TTNc.3439T>C (p.Phe1147Leu)
c.3301T>C (p.Phe1101Leu)
c.3487T>C (p.Phe1163Leu)
c.3346T>C (p.Phe1116Leu)
c.3484T>C (p.Phe1162Leu)
c.3442T>C (p.Phe1148Leu)
2g.178781205A>TCA349483438TTNc.3439T>A (p.Phe1147Ile)
c.3301T>A (p.Phe1101Ile)
c.3487T>A (p.Phe1163Ile)
c.3346T>A (p.Phe1116Ile)
c.3484T>A (p.Phe1162Ile)
c.3442T>A (p.Phe1148Ile)
gnomAD v4
2g.178781206A>CCA430110659TTNc.3438T>G (p.Thr1146=)
c.3300T>G (p.Thr1100=)
c.3486T>G (p.Thr1162=)
c.3345T>G (p.Thr1115=)
c.3483T>G (p.Thr1161=)
c.3441T>G (p.Thr1147=)
2g.178781206A>GCA430110661TTNc.3438T>C (p.Thr1146=)
c.3300T>C (p.Thr1100=)
c.3486T>C (p.Thr1162=)
c.3345T>C (p.Thr1115=)
c.3483T>C (p.Thr1161=)
c.3441T>C (p.Thr1147=)
2g.178781206A>TCA430110663TTNc.3438T>A (p.Thr1146=)
c.3300T>A (p.Thr1100=)
c.3486T>A (p.Thr1162=)
c.3345T>A (p.Thr1115=)
c.3483T>A (p.Thr1161=)
c.3441T>A (p.Thr1147=)
2g.178781207G>ACA349483444TTNc.3437C>T (p.Thr1146Ile)
c.3299C>T (p.Thr1100Ile)
c.3485C>T (p.Thr1162Ile)
c.3344C>T (p.Thr1115Ile)
c.3482C>T (p.Thr1161Ile)
c.3440C>T (p.Thr1147Ile)
2g.178781207G>CCA349483446TTNc.3437C>G (p.Thr1146Ser)
c.3299C>G (p.Thr1100Ser)
c.3485C>G (p.Thr1162Ser)
c.3344C>G (p.Thr1115Ser)
c.3482C>G (p.Thr1161Ser)
c.3440C>G (p.Thr1147Ser)
2g.178781207G>TCA349483448TTNc.3437C>A (p.Thr1146Asn)
c.3299C>A (p.Thr1100Asn)
c.3485C>A (p.Thr1162Asn)
c.3344C>A (p.Thr1115Asn)
c.3482C>A (p.Thr1161Asn)
c.3440C>A (p.Thr1147Asn)
2g.178781208T>ACA349483450TTNc.3436A>T (p.Thr1146Ser)
c.3298A>T (p.Thr1100Ser)
c.3484A>T (p.Thr1162Ser)
c.3343A>T (p.Thr1115Ser)
c.3481A>T (p.Thr1161Ser)
c.3439A>T (p.Thr1147Ser)
2g.178781208T>CCA349483451TTNc.3436A>G (p.Thr1146Ala)
c.3298A>G (p.Thr1100Ala)
c.3484A>G (p.Thr1162Ala)
c.3343A>G (p.Thr1115Ala)
c.3481A>G (p.Thr1161Ala)
c.3439A>G (p.Thr1147Ala)
gnomAD v4
2g.178781208T>GCA349483453TTNc.3436A>C (p.Thr1146Pro)
c.3298A>C (p.Thr1100Pro)
c.3484A>C (p.Thr1162Pro)
c.3343A>C (p.Thr1115Pro)
c.3481A>C (p.Thr1161Pro)
c.3439A>C (p.Thr1147Pro)
2g.178781209C>ACA349483456TTNc.3435G>T (p.Met1145Ile)
c.3297G>T (p.Met1099Ile)
c.3483G>T (p.Met1161Ile)
c.3342G>T (p.Met1114Ile)
c.3480G>T (p.Met1160Ile)
c.3438G>T (p.Met1146Ile)
2g.178781209C>GCA349483460TTNc.3435G>C (p.Met1145Ile)
c.3297G>C (p.Met1099Ile)
c.3483G>C (p.Met1161Ile)
c.3342G>C (p.Met1114Ile)
c.3480G>C (p.Met1160Ile)
c.3438G>C (p.Met1146Ile)
2g.178781209C>TCA349483458TTNc.3435G>A (p.Met1145Ile)
c.3297G>A (p.Met1099Ile)
c.3483G>A (p.Met1161Ile)
c.3342G>A (p.Met1114Ile)
c.3480G>A (p.Met1160Ile)
c.3438G>A (p.Met1146Ile)
2g.178781210A=CA1310619524TTNc.3434T= (p.Met1145=)
c.3296T= (p.Met1099=)
c.3482T= (p.Met1161=)
c.3341T= (p.Met1114=)
c.3479T= (p.Met1160=)
c.3437T= (p.Met1146=)
2g.178781210A>CCA349483462TTNc.3434T>G (p.Met1145Arg)
c.3296T>G (p.Met1099Arg)
c.3482T>G (p.Met1161Arg)
c.3341T>G (p.Met1114Arg)
c.3479T>G (p.Met1160Arg)
c.3437T>G (p.Met1146Arg)
2g.178781210A>GCA60980310TTNc.3434T>C (p.Met1145Thr)
c.3296T>C (p.Met1099Thr)
c.3482T>C (p.Met1161Thr)
c.3341T>C (p.Met1114Thr)
c.3479T>C (p.Met1160Thr)
c.3437T>C (p.Met1146Thr)
dbSNP gnomAD v2 gnomAD v4
2g.178781210A>TCA349483464TTNc.3434T>A (p.Met1145Lys)
c.3296T>A (p.Met1099Lys)
c.3482T>A (p.Met1161Lys)
c.3341T>A (p.Met1114Lys)
c.3479T>A (p.Met1160Lys)
c.3437T>A (p.Met1146Lys)
2g.178781211T>ACA349483466TTNc.3433A>T (p.Met1145Leu)
c.3295A>T (p.Met1099Leu)
c.3481A>T (p.Met1161Leu)
c.3340A>T (p.Met1114Leu)
c.3478A>T (p.Met1160Leu)
c.3436A>T (p.Met1146Leu)
dbSNP
2g.178781211T>CCA349483468TTNc.3433A>G (p.Met1145Val)
c.3295A>G (p.Met1099Val)
c.3481A>G (p.Met1161Val)
c.3340A>G (p.Met1114Val)
c.3478A>G (p.Met1160Val)
c.3436A>G (p.Met1146Val)
dbSNP gnomAD v3 gnomAD v4
2g.178781211T>GCA349483470TTNc.3433A>C (p.Met1145Leu)
c.3295A>C (p.Met1099Leu)
c.3481A>C (p.Met1161Leu)
c.3340A>C (p.Met1114Leu)
c.3478A>C (p.Met1160Leu)
c.3436A>C (p.Met1146Leu)
2g.178781211T=CA1310619525TTNc.3433A= (p.Met1145=)
c.3295A= (p.Met1099=)
c.3481A= (p.Met1161=)
c.3340A= (p.Met1114=)
c.3478A= (p.Met1160=)
c.3436A= (p.Met1146=)
2g.178781212A=CA1310619526TTNc.3432T= (p.Ser1144=)
c.3294T= (p.Ser1098=)
c.3480T= (p.Ser1160=)
c.3339T= (p.Ser1113=)
c.3477T= (p.Ser1159=)
c.3435T= (p.Ser1145=)
2g.178781212A>CCA430110689TTNc.3432T>G (p.Ser1144=)
c.3294T>G (p.Ser1098=)
c.3480T>G (p.Ser1160=)
c.3339T>G (p.Ser1113=)
c.3477T>G (p.Ser1159=)
c.3435T>G (p.Ser1145=)
gnomAD v4
2g.178781212A>GCA430110690TTNc.3432T>C (p.Ser1144=)
c.3294T>C (p.Ser1098=)
c.3480T>C (p.Ser1160=)
c.3339T>C (p.Ser1113=)
c.3477T>C (p.Ser1159=)
c.3435T>C (p.Ser1145=)
ClinVar dbSNP gnomAD v4
2g.178781212A>TCA430110693TTNc.3432T>A (p.Ser1144=)
c.3294T>A (p.Ser1098=)
c.3480T>A (p.Ser1160=)
c.3339T>A (p.Ser1113=)
c.3477T>A (p.Ser1159=)
c.3435T>A (p.Ser1145=)
2g.178781213G>ACA349483472TTNc.3431C>T (p.Ser1144Phe)
c.3293C>T (p.Ser1098Phe)
c.3479C>T (p.Ser1160Phe)
c.3338C>T (p.Ser1113Phe)
c.3476C>T (p.Ser1159Phe)
c.3434C>T (p.Ser1145Phe)
2g.178781213G>CCA349483474TTNc.3431C>G (p.Ser1144Cys)
c.3293C>G (p.Ser1098Cys)
c.3479C>G (p.Ser1160Cys)
c.3338C>G (p.Ser1113Cys)
c.3476C>G (p.Ser1159Cys)
c.3434C>G (p.Ser1145Cys)

Number of alleles fetched