Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.99105272_99105283del | CA196864779 | TGFBR1 | c.-111+1166_-111+1177del (n.-111+1166_-111+1177del) c.-111+147_-111+158del (n.-111+147_-111+158del) c.67_78del (p.Ala23_Ala26del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105272_99105283dup | CA658797253 | TGFBR1 | c.-111+1166_-111+1177dup (n.-111+1166_-111+1177dup) c.-111+147_-111+158dup (n.-111+147_-111+158dup) c.67_78dup (p.Ala26_Leu27insAlaAlaAlaAla) | ClinVar dbSNP gnomAD v4 |
9 | g.99105275_99105283dup | CA16612907 | TGFBR1 | c.-111+1169_-111+1177dup (n.-111+1169_-111+1177dup) c.-111+150_-111+158dup (n.-111+150_-111+158dup) c.70_78dup (p.Ala26_Leu27insAlaAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105278_99105283dup | CA466433366 | TGFBR1 | c.-111+1172_-111+1177dup (n.-111+1172_-111+1177dup) c.-111+153_-111+158dup (n.-111+153_-111+158dup) c.73_78dup (p.Ala26_Leu27insAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99105266_99105283del | CA1127261657 | TGFBR1 | c.-111+1160_-111+1177del (n.-111+1160_-111+1177del) c.-111+141_-111+158del (n.-111+141_-111+158del) c.61_78del (p.Ala21_Ala26del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99105278_99105283del | CA10587676 | TGFBR1 | c.-111+1172_-111+1177del (n.-111+1172_-111+1177del) c.-111+153_-111+158del (n.-111+153_-111+158del) c.73_78del (p.Ala25_Ala26del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105269_99105283dup | CA1127261668 | TGFBR1 | c.-111+1163_-111+1177dup (n.-111+1163_-111+1177dup) c.-111+144_-111+158dup (n.-111+144_-111+158dup) c.64_78dup (p.Ala26_Leu27insAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99105269_99105283del | CA658683545 | TGFBR1 | c.-111+1163_-111+1177del (n.-111+1163_-111+1177del) c.-111+144_-111+158del (n.-111+144_-111+158del) c.64_78del (p.Ala22_Ala26del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99105281_99105283dup | CA320169 | TGFBR1 | c.-111+1175_-111+1177dup (n.-111+1175_-111+1177dup) c.-111+156_-111+158dup (n.-111+156_-111+158dup) c.76_78dup (p.Ala26_Leu27insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105275_99105283del | CA008849 | TGFBR1 | c.-111+1169_-111+1177del (n.-111+1169_-111+1177del) c.-111+150_-111+158del (n.-111+150_-111+158del) c.70_78del (p.Ala24_Ala26del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105281_99105283del | CA324275 | TGFBR1 | c.-111+1175_-111+1177del (n.-111+1175_-111+1177del) c.-111+156_-111+158del (n.-111+156_-111+158del) c.76_78del (p.Ala26del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99105266_99105283dup | CA1127261666 | TGFBR1 | c.-111+1160_-111+1177dup (n.-111+1160_-111+1177dup) c.-111+141_-111+158dup (n.-111+141_-111+158dup) c.61_78dup (p.Ala26_Leu27insAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |