Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178780110G>A | CA349482606 | TTN | c.3619C>T (p.Pro1207Ser) c.3481C>T (p.Pro1161Ser) c.3667C>T (p.Pro1223Ser) c.3526C>T (p.Pro1176Ser) c.3664C>T (p.Pro1222Ser) c.3622C>T (p.Pro1208Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780110G>C | CA349482607 | TTN | c.3619C>G (p.Pro1207Ala) c.3481C>G (p.Pro1161Ala) c.3667C>G (p.Pro1223Ala) c.3526C>G (p.Pro1176Ala) c.3664C>G (p.Pro1222Ala) c.3622C>G (p.Pro1208Ala) | |
2 | g.178780110G= | CA1310619047 | TTN | c.3619C= (p.Pro1207=) c.3481C= (p.Pro1161=) c.3667C= (p.Pro1223=) c.3526C= (p.Pro1176=) c.3664C= (p.Pro1222=) c.3622C= (p.Pro1208=) | |
2 | g.178780110G>T | CA311258 | TTN | c.3619C>A (p.Pro1207Thr) c.3481C>A (p.Pro1161Thr) c.3667C>A (p.Pro1223Thr) c.3526C>A (p.Pro1176Thr) c.3664C>A (p.Pro1222Thr) c.3622C>A (p.Pro1208Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780111T>A | CA430109737 | TTN | c.3618A>T (p.Ala1206=) c.3480A>T (p.Ala1160=) c.3666A>T (p.Ala1222=) c.3525A>T (p.Ala1175=) c.3663A>T (p.Ala1221=) c.3621A>T (p.Ala1207=) | |
2 | g.178780111T>C | CA430109738 | TTN | c.3618A>G (p.Ala1206=) c.3480A>G (p.Ala1160=) c.3666A>G (p.Ala1222=) c.3525A>G (p.Ala1175=) c.3663A>G (p.Ala1221=) c.3621A>G (p.Ala1207=) | |
2 | g.178780111T>G | CA430109741 | TTN | c.3618A>C (p.Ala1206=) c.3480A>C (p.Ala1160=) c.3666A>C (p.Ala1222=) c.3525A>C (p.Ala1175=) c.3663A>C (p.Ala1221=) c.3621A>C (p.Ala1207=) | |
2 | g.178780112G>A | CA349482609 | TTN | c.3617C>T (p.Ala1206Val) c.3479C>T (p.Ala1160Val) c.3665C>T (p.Ala1222Val) c.3524C>T (p.Ala1175Val) c.3662C>T (p.Ala1221Val) c.3620C>T (p.Ala1207Val) | gnomAD v4 |
2 | g.178780112G>C | CA2005514 | TTN | c.3617C>G (p.Ala1206Gly) c.3479C>G (p.Ala1160Gly) c.3665C>G (p.Ala1222Gly) c.3524C>G (p.Ala1175Gly) c.3662C>G (p.Ala1221Gly) c.3620C>G (p.Ala1207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780112G= | CA1310619048 | TTN | c.3617C= (p.Ala1206=) c.3479C= (p.Ala1160=) c.3665C= (p.Ala1222=) c.3524C= (p.Ala1175=) c.3662C= (p.Ala1221=) c.3620C= (p.Ala1207=) | |
2 | g.178780112G>T | CA349482612 | TTN | c.3617C>A (p.Ala1206Glu) c.3479C>A (p.Ala1160Glu) c.3665C>A (p.Ala1222Glu) c.3524C>A (p.Ala1175Glu) c.3662C>A (p.Ala1221Glu) c.3620C>A (p.Ala1207Glu) | |
2 | g.178780113C>A | CA238299 | TTN | c.3616G>T (p.Ala1206Ser) c.3478G>T (p.Ala1160Ser) c.3664G>T (p.Ala1222Ser) c.3523G>T (p.Ala1175Ser) c.3661G>T (p.Ala1221Ser) c.3619G>T (p.Ala1207Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780113C= | CA1310619049 | TTN | c.3616G= (p.Ala1206=) c.3478G= (p.Ala1160=) c.3664G= (p.Ala1222=) c.3523G= (p.Ala1175=) c.3661G= (p.Ala1221=) c.3619G= (p.Ala1207=) | |
2 | g.178780113C>G | CA349482615 | TTN | c.3616G>C (p.Ala1206Pro) c.3478G>C (p.Ala1160Pro) c.3664G>C (p.Ala1222Pro) c.3523G>C (p.Ala1175Pro) c.3661G>C (p.Ala1221Pro) c.3619G>C (p.Ala1207Pro) | |
2 | g.178780113C>T | CA349482617 | TTN | c.3616G>A (p.Ala1206Thr) c.3478G>A (p.Ala1160Thr) c.3664G>A (p.Ala1222Thr) c.3523G>A (p.Ala1175Thr) c.3661G>A (p.Ala1221Thr) c.3619G>A (p.Ala1207Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178780114T>A | CA430109757 | TTN | c.3615A>T (p.Thr1205=) c.3477A>T (p.Thr1159=) c.3663A>T (p.Thr1221=) c.3522A>T (p.Thr1174=) c.3660A>T (p.Thr1220=) c.3618A>T (p.Thr1206=) | |
2 | g.178780114T>C | CA430109753 | TTN | c.3615A>G (p.Thr1205=) c.3477A>G (p.Thr1159=) c.3663A>G (p.Thr1221=) c.3522A>G (p.Thr1174=) c.3660A>G (p.Thr1220=) c.3618A>G (p.Thr1206=) | |
2 | g.178780114T>G | CA430109754 | TTN | c.3615A>C (p.Thr1205=) c.3477A>C (p.Thr1159=) c.3663A>C (p.Thr1221=) c.3522A>C (p.Thr1174=) c.3660A>C (p.Thr1220=) c.3618A>C (p.Thr1206=) | |
2 | g.178780115G>A | CA349482619 | TTN | c.3614C>T (p.Thr1205Ile) c.3476C>T (p.Thr1159Ile) c.3662C>T (p.Thr1221Ile) c.3521C>T (p.Thr1174Ile) c.3659C>T (p.Thr1220Ile) c.3617C>T (p.Thr1206Ile) | gnomAD v4 |
2 | g.178780115G>C | CA349482623 | TTN | c.3614C>G (p.Thr1205Arg) c.3476C>G (p.Thr1159Arg) c.3662C>G (p.Thr1221Arg) c.3521C>G (p.Thr1174Arg) c.3659C>G (p.Thr1220Arg) c.3617C>G (p.Thr1206Arg) | |
2 | g.178780115G>T | CA349482621 | TTN | c.3614C>A (p.Thr1205Lys) c.3476C>A (p.Thr1159Lys) c.3662C>A (p.Thr1221Lys) c.3521C>A (p.Thr1174Lys) c.3659C>A (p.Thr1220Lys) c.3617C>A (p.Thr1206Lys) | gnomAD v4 |
2 | g.178780116T>A | CA349482626 | TTN | c.3613A>T (p.Thr1205Ser) c.3475A>T (p.Thr1159Ser) c.3661A>T (p.Thr1221Ser) c.3520A>T (p.Thr1174Ser) c.3658A>T (p.Thr1220Ser) c.3616A>T (p.Thr1206Ser) | |
2 | g.178780116T>C | CA2005515 | TTN | c.3613A>G (p.Thr1205Ala) c.3475A>G (p.Thr1159Ala) c.3661A>G (p.Thr1221Ala) c.3520A>G (p.Thr1174Ala) c.3658A>G (p.Thr1220Ala) c.3616A>G (p.Thr1206Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780116T>G | CA349482628 | TTN | c.3613A>C (p.Thr1205Pro) c.3475A>C (p.Thr1159Pro) c.3661A>C (p.Thr1221Pro) c.3520A>C (p.Thr1174Pro) c.3658A>C (p.Thr1220Pro) c.3616A>C (p.Thr1206Pro) | |
2 | g.178780116T= | CA1310619050 | TTN | c.3613A= (p.Thr1205=) c.3475A= (p.Thr1159=) c.3661A= (p.Thr1221=) c.3520A= (p.Thr1174=) c.3658A= (p.Thr1220=) c.3616A= (p.Thr1206=) | |
2 | g.178780117T>A | CA349482631 | TTN | c.3612A>T (p.Glu1204Asp) c.3474A>T (p.Glu1158Asp) c.3660A>T (p.Glu1220Asp) c.3519A>T (p.Glu1173Asp) c.3657A>T (p.Glu1219Asp) c.3615A>T (p.Glu1205Asp) | |
2 | g.178780117T>C | CA430109763 | TTN | c.3612A>G (p.Glu1204=) c.3474A>G (p.Glu1158=) c.3660A>G (p.Glu1220=) c.3519A>G (p.Glu1173=) c.3657A>G (p.Glu1219=) c.3615A>G (p.Glu1205=) | |
2 | g.178780117T>G | CA349482632 | TTN | c.3612A>C (p.Glu1204Asp) c.3474A>C (p.Glu1158Asp) c.3660A>C (p.Glu1220Asp) c.3519A>C (p.Glu1173Asp) c.3657A>C (p.Glu1219Asp) c.3615A>C (p.Glu1205Asp) | |
2 | g.178780118T>A | CA349482634 | TTN | c.3611A>T (p.Glu1204Val) c.3473A>T (p.Glu1158Val) c.3659A>T (p.Glu1220Val) c.3518A>T (p.Glu1173Val) c.3656A>T (p.Glu1219Val) c.3614A>T (p.Glu1205Val) | |
2 | g.178780118T>C | CA349482636 | TTN | c.3611A>G (p.Glu1204Gly) c.3473A>G (p.Glu1158Gly) c.3659A>G (p.Glu1220Gly) c.3518A>G (p.Glu1173Gly) c.3656A>G (p.Glu1219Gly) c.3614A>G (p.Glu1205Gly) | |
2 | g.178780118T>G | CA2005516 | TTN | c.3611A>C (p.Glu1204Ala) c.3473A>C (p.Glu1158Ala) c.3659A>C (p.Glu1220Ala) c.3518A>C (p.Glu1173Ala) c.3656A>C (p.Glu1219Ala) c.3614A>C (p.Glu1205Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178780118T= | CA1310619051 | TTN | c.3611A= (p.Glu1204=) c.3473A= (p.Glu1158=) c.3659A= (p.Glu1220=) c.3518A= (p.Glu1173=) c.3656A= (p.Glu1219=) c.3614A= (p.Glu1205=) | |
2 | g.178780120_178780121del | CA2972260457 | TTN | c.3610_3611del (p.Glu1204AsnfsTer9) c.3472_3473del (p.Glu1158AsnfsTer9) c.3658_3659del (p.Glu1220AsnfsTer9) c.3517_3518del (p.Glu1173AsnfsTer9) c.3655_3656del (p.Glu1219AsnfsTer9) c.3613_3614del (p.Glu1205AsnfsTer9) | |
2 | g.178780119C>A | CA349482638 | TTN | c.3610G>T (p.Glu1204Ter) c.3472G>T (p.Glu1158Ter) c.3658G>T (p.Glu1220Ter) c.3517G>T (p.Glu1173Ter) c.3655G>T (p.Glu1219Ter) c.3613G>T (p.Glu1205Ter) | |
2 | g.178780119C>G | CA349482642 | TTN | c.3610G>C (p.Glu1204Gln) c.3472G>C (p.Glu1158Gln) c.3658G>C (p.Glu1220Gln) c.3517G>C (p.Glu1173Gln) c.3655G>C (p.Glu1219Gln) c.3613G>C (p.Glu1205Gln) | |
2 | g.178780119C>T | CA349482640 | TTN | c.3610G>A (p.Glu1204Lys) c.3472G>A (p.Glu1158Lys) c.3658G>A (p.Glu1220Lys) c.3517G>A (p.Glu1173Lys) c.3655G>A (p.Glu1219Lys) c.3613G>A (p.Glu1205Lys) | |
2 | g.178780120T>A | CA430109780 | TTN | c.3609A>T (p.Gly1203=) c.3471A>T (p.Gly1157=) c.3657A>T (p.Gly1219=) c.3516A>T (p.Gly1172=) c.3654A>T (p.Gly1218=) c.3612A>T (p.Gly1204=) | |
2 | g.178780120T>C | CA430109776 | TTN | c.3609A>G (p.Gly1203=) c.3471A>G (p.Gly1157=) c.3657A>G (p.Gly1219=) c.3516A>G (p.Gly1172=) c.3654A>G (p.Gly1218=) c.3612A>G (p.Gly1204=) | ClinVar dbSNP |
2 | g.178780120T>G | CA430109778 | TTN | c.3609A>C (p.Gly1203=) c.3471A>C (p.Gly1157=) c.3657A>C (p.Gly1219=) c.3516A>C (p.Gly1172=) c.3654A>C (p.Gly1218=) c.3612A>C (p.Gly1204=) | |
2 | g.178780120T= | CA1310619052 | TTN | c.3609A= (p.Gly1203=) c.3471A= (p.Gly1157=) c.3657A= (p.Gly1219=) c.3516A= (p.Gly1172=) c.3654A= (p.Gly1218=) c.3612A= (p.Gly1204=) | |
2 | g.178780121C>A | CA349482644 | TTN | c.3608G>T (p.Gly1203Val) c.3470G>T (p.Gly1157Val) c.3656G>T (p.Gly1219Val) c.3515G>T (p.Gly1172Val) c.3653G>T (p.Gly1218Val) c.3611G>T (p.Gly1204Val) | |
2 | g.178780121C= | CA1310619053 | TTN | c.3608G= (p.Gly1203=) c.3470G= (p.Gly1157=) c.3656G= (p.Gly1219=) c.3515G= (p.Gly1172=) c.3653G= (p.Gly1218=) c.3611G= (p.Gly1204=) | |
2 | g.178780121C>G | CA2005517 | TTN | c.3608G>C (p.Gly1203Ala) c.3470G>C (p.Gly1157Ala) c.3656G>C (p.Gly1219Ala) c.3515G>C (p.Gly1172Ala) c.3653G>C (p.Gly1218Ala) c.3611G>C (p.Gly1204Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178780121C>T | CA349482645 | TTN | c.3608G>A (p.Gly1203Glu) c.3470G>A (p.Gly1157Glu) c.3656G>A (p.Gly1219Glu) c.3515G>A (p.Gly1172Glu) c.3653G>A (p.Gly1218Glu) c.3611G>A (p.Gly1204Glu) | |
2 | g.178780122C>A | CA349482648 | TTN | c.3607G>T (p.Gly1203Ter) c.3469G>T (p.Gly1157Ter) c.3655G>T (p.Gly1219Ter) c.3514G>T (p.Gly1172Ter) c.3652G>T (p.Gly1218Ter) c.3610G>T (p.Gly1204Ter) | |
2 | g.178780122C= | CA1310619054 | TTN | c.3607G= (p.Gly1203=) c.3469G= (p.Gly1157=) c.3655G= (p.Gly1219=) c.3514G= (p.Gly1172=) c.3652G= (p.Gly1218=) c.3610G= (p.Gly1204=) | |
2 | g.178780122C>G | CA349482650 | TTN | c.3607G>C (p.Gly1203Arg) c.3469G>C (p.Gly1157Arg) c.3655G>C (p.Gly1219Arg) c.3514G>C (p.Gly1172Arg) c.3652G>C (p.Gly1218Arg) c.3610G>C (p.Gly1204Arg) | |
2 | g.178780122C>T | CA2005518 | TTN | c.3607G>A (p.Gly1203Arg) c.3469G>A (p.Gly1157Arg) c.3655G>A (p.Gly1219Arg) c.3514G>A (p.Gly1172Arg) c.3652G>A (p.Gly1218Arg) c.3610G>A (p.Gly1204Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178780123A>C | CA430109788 | TTN | c.3606T>G (p.Val1202=) c.3468T>G (p.Val1156=) c.3654T>G (p.Val1218=) c.3513T>G (p.Val1171=) c.3651T>G (p.Val1217=) c.3609T>G (p.Val1203=) | |
2 | g.178780123A>G | CA430109790 | TTN | c.3606T>C (p.Val1202=) c.3468T>C (p.Val1156=) c.3654T>C (p.Val1218=) c.3513T>C (p.Val1171=) c.3651T>C (p.Val1217=) c.3609T>C (p.Val1203=) |