Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178781199C>A | CA349483419 | TTN | c.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 |
2 | g.178781199C= | CA1310619521 | TTN | c.3445G= (p.Asp1149=) c.3307G= (p.Asp1103=) c.3493G= (p.Asp1165=) c.3352G= (p.Asp1118=) c.3490G= (p.Asp1164=) c.3448G= (p.Asp1150=) | |
2 | g.178781199C>G | CA349483421 | TTN | c.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) | |
2 | g.178781199C>T | CA179371 | TTN | c.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 |
2 | g.178781200A>C | CA430110630 | TTN | c.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=) | |
2 | g.178781200A>G | CA430110632 | TTN | c.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 |
2 | g.178781200A>T | CA430110634 | TTN | c.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=) | |
2 | g.178781201G>A | CA349483423 | TTN | c.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 |
2 | g.178781201G>C | CA349483425 | TTN | c.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) | |
2 | g.178781201G>T | CA349483427 | TTN | c.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) | |
2 | g.178781202C>A | CA349483428 | TTN | c.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) | |
2 | g.178781202C= | CA1310619522 | TTN | c.3442G= (p.Ala1148=) c.3304G= (p.Ala1102=) c.3490G= (p.Ala1164=) c.3349G= (p.Ala1117=) c.3487G= (p.Ala1163=) c.3445G= (p.Ala1149=) | |
2 | g.178781202C>G | CA349483429 | TTN | c.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) | |
2 | g.178781202C>T | CA60980309 | TTN | c.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 |
2 | g.178781203A= | CA1310619523 | TTN | c.3441T= (p.Phe1147=) c.3303T= (p.Phe1101=) c.3489T= (p.Phe1163=) c.3348T= (p.Phe1116=) c.3486T= (p.Phe1162=) c.3444T= (p.Phe1148=) | |
2 | g.178781203A>C | CA349483430 | TTN | c.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) | |
2 | g.178781203A>G | CA430110645 | TTN | c.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 |
2 | g.178781203A>T | CA349483431 | TTN | c.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) | |
2 | g.178781204A>C | CA349483433 | TTN | c.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) | |
2 | g.178781204A>G | CA349483434 | TTN | c.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 |
2 | g.178781204A>T | CA349483436 | TTN | c.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) | |
2 | g.178781205A>C | CA349483442 | TTN | c.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) | |
2 | g.178781205A>G | CA349483440 | TTN | c.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) | |
2 | g.178781205A>T | CA349483438 | TTN | c.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 |
2 | g.178781206A>C | CA430110659 | TTN | c.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=) | |
2 | g.178781206A>G | CA430110661 | TTN | c.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=) | |
2 | g.178781206A>T | CA430110663 | TTN | c.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=) | |
2 | g.178781207G>A | CA349483444 | TTN | c.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) | |
2 | g.178781207G>C | CA349483446 | TTN | c.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) | |
2 | g.178781207G>T | CA349483448 | TTN | c.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) | |
2 | g.178781208T>A | CA349483450 | TTN | c.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) | |
2 | g.178781208T>C | CA349483451 | TTN | c.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 |
2 | g.178781208T>G | CA349483453 | TTN | c.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) | |
2 | g.178781209C>A | CA349483456 | TTN | c.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) | |
2 | g.178781209C>G | CA349483460 | TTN | c.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) | |
2 | g.178781209C>T | CA349483458 | TTN | c.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) | |
2 | g.178781210A= | CA1310619524 | TTN | c.3434T= (p.Met1145=) c.3296T= (p.Met1099=) c.3482T= (p.Met1161=) c.3341T= (p.Met1114=) c.3479T= (p.Met1160=) c.3437T= (p.Met1146=) | |
2 | g.178781210A>C | CA349483462 | TTN | c.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) | |
2 | g.178781210A>G | CA60980310 | TTN | c.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 |
2 | g.178781210A>T | CA349483464 | TTN | c.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) | |
2 | g.178781211T>A | CA349483466 | TTN | c.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 |
2 | g.178781211T>C | CA349483468 | TTN | c.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 |
2 | g.178781211T>G | CA349483470 | TTN | c.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) | |
2 | g.178781211T= | CA1310619525 | TTN | c.3433A= (p.Met1145=) c.3295A= (p.Met1099=) c.3481A= (p.Met1161=) c.3340A= (p.Met1114=) c.3478A= (p.Met1160=) c.3436A= (p.Met1146=) | |
2 | g.178781212A= | CA1310619526 | TTN | c.3432T= (p.Ser1144=) c.3294T= (p.Ser1098=) c.3480T= (p.Ser1160=) c.3339T= (p.Ser1113=) c.3477T= (p.Ser1159=) c.3435T= (p.Ser1145=) | |
2 | g.178781212A>C | CA430110689 | TTN | c.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 |
2 | g.178781212A>G | CA430110690 | TTN | c.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 |
2 | g.178781212A>T | CA430110693 | TTN | c.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=) | |
2 | g.178781213G>A | CA349483472 | TTN | c.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) | |
2 | g.178781213G>C | CA349483474 | TTN | c.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) |