Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178780110G>ACA349482606TTNc.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
2g.178780110G>CCA349482607TTNc.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)
2g.178780110G=CA1310619047TTNc.3619C= (p.Pro1207=)
c.3481C= (p.Pro1161=)
c.3667C= (p.Pro1223=)
c.3526C= (p.Pro1176=)
c.3664C= (p.Pro1222=)
c.3622C= (p.Pro1208=)
2g.178780110G>TCA311258TTNc.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
2g.178780111T>ACA430109737TTNc.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=)
2g.178780111T>CCA430109738TTNc.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=)
2g.178780111T>GCA430109741TTNc.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=)
2g.178780112G>ACA349482609TTNc.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
2g.178780112G>CCA2005514TTNc.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
2g.178780112G=CA1310619048TTNc.3617C= (p.Ala1206=)
c.3479C= (p.Ala1160=)
c.3665C= (p.Ala1222=)
c.3524C= (p.Ala1175=)
c.3662C= (p.Ala1221=)
c.3620C= (p.Ala1207=)
2g.178780112G>TCA349482612TTNc.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)
2g.178780113C>ACA238299TTNc.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
2g.178780113C=CA1310619049TTNc.3616G= (p.Ala1206=)
c.3478G= (p.Ala1160=)
c.3664G= (p.Ala1222=)
c.3523G= (p.Ala1175=)
c.3661G= (p.Ala1221=)
c.3619G= (p.Ala1207=)
2g.178780113C>GCA349482615TTNc.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)
2g.178780113C>TCA349482617TTNc.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
2g.178780114T>ACA430109757TTNc.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=)
2g.178780114T>CCA430109753TTNc.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=)
2g.178780114T>GCA430109754TTNc.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=)
2g.178780115G>ACA349482619TTNc.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
2g.178780115G>CCA349482623TTNc.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)
2g.178780115G>TCA349482621TTNc.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
2g.178780116T>ACA349482626TTNc.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)
2g.178780116T>CCA2005515TTNc.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
2g.178780116T>GCA349482628TTNc.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)
2g.178780116T=CA1310619050TTNc.3613A= (p.Thr1205=)
c.3475A= (p.Thr1159=)
c.3661A= (p.Thr1221=)
c.3520A= (p.Thr1174=)
c.3658A= (p.Thr1220=)
c.3616A= (p.Thr1206=)
2g.178780117T>ACA349482631TTNc.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)
2g.178780117T>CCA430109763TTNc.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=)
2g.178780117T>GCA349482632TTNc.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)
2g.178780118T>ACA349482634TTNc.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)
2g.178780118T>CCA349482636TTNc.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)
2g.178780118T>GCA2005516TTNc.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
2g.178780118T=CA1310619051TTNc.3611A= (p.Glu1204=)
c.3473A= (p.Glu1158=)
c.3659A= (p.Glu1220=)
c.3518A= (p.Glu1173=)
c.3656A= (p.Glu1219=)
c.3614A= (p.Glu1205=)
2g.178780120_178780121delCA2972260457TTNc.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)
2g.178780119C>ACA349482638TTNc.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)
2g.178780119C>GCA349482642TTNc.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)
2g.178780119C>TCA349482640TTNc.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)
2g.178780120T>ACA430109780TTNc.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=)
2g.178780120T>CCA430109776TTNc.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
2g.178780120T>GCA430109778TTNc.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=)
2g.178780120T=CA1310619052TTNc.3609A= (p.Gly1203=)
c.3471A= (p.Gly1157=)
c.3657A= (p.Gly1219=)
c.3516A= (p.Gly1172=)
c.3654A= (p.Gly1218=)
c.3612A= (p.Gly1204=)
2g.178780121C>ACA349482644TTNc.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)
2g.178780121C=CA1310619053TTNc.3608G= (p.Gly1203=)
c.3470G= (p.Gly1157=)
c.3656G= (p.Gly1219=)
c.3515G= (p.Gly1172=)
c.3653G= (p.Gly1218=)
c.3611G= (p.Gly1204=)
2g.178780121C>GCA2005517TTNc.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
2g.178780121C>TCA349482645TTNc.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)
2g.178780122C>ACA349482648TTNc.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)
2g.178780122C=CA1310619054TTNc.3607G= (p.Gly1203=)
c.3469G= (p.Gly1157=)
c.3655G= (p.Gly1219=)
c.3514G= (p.Gly1172=)
c.3652G= (p.Gly1218=)
c.3610G= (p.Gly1204=)
2g.178780122C>GCA349482650TTNc.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)
2g.178780122C>TCA2005518TTNc.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
2g.178780123A>CCA430109788TTNc.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=)
2g.178780123A>GCA430109790TTNc.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=)

Number of alleles fetched