Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26467044_26467046delinsTGG | CA1239817764 | OTOF | c.4362+53_4362+55delinsCCA (n.4362+53_4362+55delinsCCA) c.2061+53_2061+55delinsCCA (n.2061+53_2061+55delinsCCA) c.2121+53_2121+55delinsCCA (n.2121+53_2121+55delinsCCA) c.2292+53_2292+55delinsCCA (n.2292+53_2292+55delinsCCA) c.4347+53_4347+55delinsCCA (n.4347+53_4347+55delinsCCA) c.4407+53_4407+55delinsCCA (n.4407+53_4407+55delinsCCA) c.4302+53_4302+55delinsCCA (n.4302+53_4302+55delinsCCA) | |
2 | g.26467044_26467050delinsTGGGGGG | CA1239817765 | OTOF | c.4362+49_4362+55delinsCCCCCCA (n.4362+49_4362+55delinsCCCCCCA) c.2061+49_2061+55delinsCCCCCCA (n.2061+49_2061+55delinsCCCCCCA) c.2121+49_2121+55delinsCCCCCCA (n.2121+49_2121+55delinsCCCCCCA) c.2292+49_2292+55delinsCCCCCCA (n.2292+49_2292+55delinsCCCCCCA) c.4347+49_4347+55delinsCCCCCCA (n.4347+49_4347+55delinsCCCCCCA) c.4407+49_4407+55delinsCCCCCCA (n.4407+49_4407+55delinsCCCCCCA) c.4302+49_4302+55delinsCCCCCCA (n.4302+49_4302+55delinsCCCCCCA) | |
2 | g.26467045_26467046delinsA | CA44413449 | OTOF | c.4362+53_4362+54delinsT (n.4362+53_4362+54delinsT) c.2061+53_2061+54delinsT (n.2061+53_2061+54delinsT) c.2121+53_2121+54delinsT (n.2121+53_2121+54delinsT) c.2292+53_2292+54delinsT (n.2292+53_2292+54delinsT) c.4347+53_4347+54delinsT (n.4347+53_4347+54delinsT) c.4407+53_4407+54delinsT (n.4407+53_4407+54delinsT) c.4302+53_4302+54delinsT (n.4302+53_4302+54delinsT) | dbSNP |
2 | g.26467045_26467047delinsGGG | CA1239817769 | OTOF | c.4362+52_4362+54delinsCCC (n.4362+52_4362+54delinsCCC) c.2061+52_2061+54delinsCCC (n.2061+52_2061+54delinsCCC) c.2121+52_2121+54delinsCCC (n.2121+52_2121+54delinsCCC) c.2292+52_2292+54delinsCCC (n.2292+52_2292+54delinsCCC) c.4347+52_4347+54delinsCCC (n.4347+52_4347+54delinsCCC) c.4407+52_4407+54delinsCCC (n.4407+52_4407+54delinsCCC) c.4302+52_4302+54delinsCCC (n.4302+52_4302+54delinsCCC) | |
2 | g.26467051_26467052insACCCGGGGGGGGGG | CA2658234786 | OTOF | c.4362+54_4362+55insCCCGGGTCCCCCCC (n.4362+54_4362+55insCCCGGGTCCCCCCC) c.2061+54_2061+55insCCCGGGTCCCCCCC (n.2061+54_2061+55insCCCGGGTCCCCCCC) c.2121+54_2121+55insCCCGGGTCCCCCCC (n.2121+54_2121+55insCCCGGGTCCCCCCC) c.2292+54_2292+55insCCCGGGTCCCCCCC (n.2292+54_2292+55insCCCGGGTCCCCCCC) c.4347+54_4347+55insCCCGGGTCCCCCCC (n.4347+54_4347+55insCCCGGGTCCCCCCC) c.4407+54_4407+55insCCCGGGTCCCCCCC (n.4407+54_4407+55insCCCGGGTCCCCCCC) c.4302+54_4302+55insCCCGGGTCCCCCCC (n.4302+54_4302+55insCCCGGGTCCCCCCC) | gnomAD v4 |
2 | g.26467051_26467052insACCCTGGGGGGGGG | CA2658234785 | OTOF | c.4362+54_4362+55insCCAGGGTCCCCCCC (n.4362+54_4362+55insCCAGGGTCCCCCCC) c.2061+54_2061+55insCCAGGGTCCCCCCC (n.2061+54_2061+55insCCAGGGTCCCCCCC) c.2121+54_2121+55insCCAGGGTCCCCCCC (n.2121+54_2121+55insCCAGGGTCCCCCCC) c.2292+54_2292+55insCCAGGGTCCCCCCC (n.2292+54_2292+55insCCAGGGTCCCCCCC) c.4347+54_4347+55insCCAGGGTCCCCCCC (n.4347+54_4347+55insCCAGGGTCCCCCCC) c.4407+54_4407+55insCCAGGGTCCCCCCC (n.4407+54_4407+55insCCAGGGTCCCCCCC) c.4302+54_4302+55insCCAGGGTCCCCCCC (n.4302+54_4302+55insCCAGGGTCCCCCCC) | gnomAD v4 |
2 | g.26467052_26467053insGTGGGGGGGGGACCCTGGGGGGGGGG | CA2658234787 | OTOF | c.4362+54_4362+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.4362+54_4362+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.2061+54_2061+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.2061+54_2061+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.2121+54_2121+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.2121+54_2121+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.2292+54_2292+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.2292+54_2292+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.4347+54_4347+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.4347+54_4347+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.4407+54_4407+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.4407+54_4407+55insCCAGGGTCCCCCCCCCACCCCCCCCC) c.4302+54_4302+55insCCAGGGTCCCCCCCCCACCCCCCCCC (n.4302+54_4302+55insCCAGGGTCCCCCCCCCACCCCCCCCC) | gnomAD v4 |
2 | g.26467052dup | CA425359531 | OTOF | c.4362+54dup (n.4362+54dup) c.2061+54dup (n.2061+54dup) c.2121+54dup (n.2121+54dup) c.2292+54dup (n.2292+54dup) c.4347+54dup (n.4347+54dup) c.4407+54dup (n.4407+54dup) c.4302+54dup (n.4302+54dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467051_26467052dup | CA2542351042 | OTOF | c.4362+53_4362+54dup (n.4362+53_4362+54dup) c.2061+53_2061+54dup (n.2061+53_2061+54dup) c.2121+53_2121+54dup (n.2121+53_2121+54dup) c.2292+53_2292+54dup (n.2292+53_2292+54dup) c.4347+53_4347+54dup (n.4347+53_4347+54dup) c.4407+53_4407+54dup (n.4407+53_4407+54dup) c.4302+53_4302+54dup (n.4302+53_4302+54dup) | gnomAD v4 |
2 | g.26467052del | CA44413463 | OTOF | c.4362+54del (n.4362+54del) c.2061+54del (n.2061+54del) c.2121+54del (n.2121+54del) c.2292+54del (n.2292+54del) c.4347+54del (n.4347+54del) c.4407+54del (n.4407+54del) c.4302+54del (n.4302+54del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467051_26467052del | CA1239817772 | OTOF | c.4362+53_4362+54del (n.4362+53_4362+54del) c.2061+53_2061+54del (n.2061+53_2061+54del) c.2121+53_2121+54del (n.2121+53_2121+54del) c.2292+53_2292+54del (n.2292+53_2292+54del) c.4347+53_4347+54del (n.4347+53_4347+54del) c.4407+53_4407+54del (n.4407+53_4407+54del) c.4302+53_4302+54del (n.4302+53_4302+54del) | dbSNP gnomAD v4 |
2 | g.26467050_26467052del | CA2658234783 | OTOF | c.4362+52_4362+54del (n.4362+52_4362+54del) c.2061+52_2061+54del (n.2061+52_2061+54del) c.2121+52_2121+54del (n.2121+52_2121+54del) c.2292+52_2292+54del (n.2292+52_2292+54del) c.4347+52_4347+54del (n.4347+52_4347+54del) c.4407+52_4407+54del (n.4407+52_4407+54del) c.4302+52_4302+54del (n.4302+52_4302+54del) | gnomAD v4 |
2 | g.26467047_26467052del | CA1239817774 | OTOF | c.4362+49_4362+54del (n.4362+49_4362+54del) c.2061+49_2061+54del (n.2061+49_2061+54del) c.2121+49_2121+54del (n.2121+49_2121+54del) c.2292+49_2292+54del (n.2292+49_2292+54del) c.4347+49_4347+54del (n.4347+49_4347+54del) c.4407+49_4407+54del (n.4407+49_4407+54del) c.4302+49_4302+54del (n.4302+49_4302+54del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467046G>A | CA11223537 | OTOF | c.4362+53C>T (n.4362+53C>T) c.2061+53C>T (n.2061+53C>T) c.2121+53C>T (n.2121+53C>T) c.2292+53C>T (n.2292+53C>T) c.4347+53C>T (n.4347+53C>T) c.4407+53C>T (n.4407+53C>T) c.4302+53C>T (n.4302+53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467046G>C | CA44413472 | OTOF | c.4362+53C>G (n.4362+53C>G) c.2061+53C>G (n.2061+53C>G) c.2121+53C>G (n.2121+53C>G) c.2292+53C>G (n.2292+53C>G) c.4347+53C>G (n.4347+53C>G) c.4407+53C>G (n.4407+53C>G) c.4302+53C>G (n.4302+53C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467046G= | CA1239817776 | OTOF | c.4362+53C= (n.4362+53C=) c.2061+53C= (n.2061+53C=) c.2121+53C= (n.2121+53C=) c.2292+53C= (n.2292+53C=) c.4347+53C= (n.4347+53C=) c.4407+53C= (n.4407+53C=) c.4302+53C= (n.4302+53C=) | |
2 | g.26467046G>T | CA44413480 | OTOF | c.4362+53C>A (n.4362+53C>A) c.2061+53C>A (n.2061+53C>A) c.2121+53C>A (n.2121+53C>A) c.2292+53C>A (n.2292+53C>A) c.4347+53C>A (n.4347+53C>A) c.4407+53C>A (n.4407+53C>A) c.4302+53C>A (n.4302+53C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467046_26467047delinsA | CA916496006 | OTOF | c.4362+52_4362+53delinsT (n.4362+52_4362+53delinsT) c.2061+52_2061+53delinsT (n.2061+52_2061+53delinsT) c.2121+52_2121+53delinsT (n.2121+52_2121+53delinsT) c.2292+52_2292+53delinsT (n.2292+52_2292+53delinsT) c.4347+52_4347+53delinsT (n.4347+52_4347+53delinsT) c.4407+52_4407+53delinsT (n.4407+52_4407+53delinsT) c.4302+52_4302+53delinsT (n.4302+52_4302+53delinsT) | dbSNP |
2 | g.26467046_26467047insTA | CA1028607430 | OTOF | c.4362+52_4362+53insTA (n.4362+52_4362+53insTA) c.2061+52_2061+53insTA (n.2061+52_2061+53insTA) c.2121+52_2121+53insTA (n.2121+52_2121+53insTA) c.2292+52_2292+53insTA (n.2292+52_2292+53insTA) c.4347+52_4347+53insTA (n.4347+52_4347+53insTA) c.4407+52_4407+53insTA (n.4407+52_4407+53insTA) c.4302+52_4302+53insTA (n.4302+52_4302+53insTA) | gnomAD v3 gnomAD v4 |
2 | g.26467047G>A | CA44413485 | OTOF | c.4362+52C>T (n.4362+52C>T) c.2061+52C>T (n.2061+52C>T) c.2121+52C>T (n.2121+52C>T) c.2292+52C>T (n.2292+52C>T) c.4347+52C>T (n.4347+52C>T) c.4407+52C>T (n.4407+52C>T) c.4302+52C>T (n.4302+52C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467047G>C | CA531761710 | OTOF | c.4362+52C>G (n.4362+52C>G) c.2061+52C>G (n.2061+52C>G) c.2121+52C>G (n.2121+52C>G) c.2292+52C>G (n.2292+52C>G) c.4347+52C>G (n.4347+52C>G) c.4407+52C>G (n.4407+52C>G) c.4302+52C>G (n.4302+52C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467047G= | CA1239817780 | OTOF | c.4362+52C= (n.4362+52C=) c.2061+52C= (n.2061+52C=) c.2121+52C= (n.2121+52C=) c.2292+52C= (n.2292+52C=) c.4347+52C= (n.4347+52C=) c.4407+52C= (n.4407+52C=) c.4302+52C= (n.4302+52C=) | |
2 | g.26467047G>T | CA44413492 | OTOF | c.4362+52C>A (n.4362+52C>A) c.2061+52C>A (n.2061+52C>A) c.2121+52C>A (n.2121+52C>A) c.2292+52C>A (n.2292+52C>A) c.4347+52C>A (n.4347+52C>A) c.4407+52C>A (n.4407+52C>A) c.4302+52C>A (n.4302+52C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467048G>A | CA1563194 | OTOF | c.4362+51C>T (n.4362+51C>T) c.2061+51C>T (n.2061+51C>T) c.2121+51C>T (n.2121+51C>T) c.2292+51C>T (n.2292+51C>T) c.4347+51C>T (n.4347+51C>T) c.4407+51C>T (n.4407+51C>T) c.4302+51C>T (n.4302+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467048G>C | CA1563192 | OTOF | c.4362+51C>G (n.4362+51C>G) c.2061+51C>G (n.2061+51C>G) c.2121+51C>G (n.2121+51C>G) c.2292+51C>G (n.2292+51C>G) c.4347+51C>G (n.4347+51C>G) c.4407+51C>G (n.4407+51C>G) c.4302+51C>G (n.4302+51C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467048G= | CA1239817782 | OTOF | c.4362+51C= (n.4362+51C=) c.2061+51C= (n.2061+51C=) c.2121+51C= (n.2121+51C=) c.2292+51C= (n.2292+51C=) c.4347+51C= (n.4347+51C=) c.4407+51C= (n.4407+51C=) c.4302+51C= (n.4302+51C=) | |
2 | g.26467048G>T | CA1563193 | OTOF | c.4362+51C>A (n.4362+51C>A) c.2061+51C>A (n.2061+51C>A) c.2121+51C>A (n.2121+51C>A) c.2292+51C>A (n.2292+51C>A) c.4347+51C>A (n.4347+51C>A) c.4407+51C>A (n.4407+51C>A) c.4302+51C>A (n.4302+51C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467049G>A | CA1563195 | OTOF | c.4362+50C>T (n.4362+50C>T) c.2061+50C>T (n.2061+50C>T) c.2121+50C>T (n.2121+50C>T) c.2292+50C>T (n.2292+50C>T) c.4347+50C>T (n.4347+50C>T) c.4407+50C>T (n.4407+50C>T) c.4302+50C>T (n.4302+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467049G= | CA1239817784 | OTOF | c.4362+50C= (n.4362+50C=) c.2061+50C= (n.2061+50C=) c.2121+50C= (n.2121+50C=) c.2292+50C= (n.2292+50C=) c.4347+50C= (n.4347+50C=) c.4407+50C= (n.4407+50C=) c.4302+50C= (n.4302+50C=) | |
2 | g.26467049G>T | CA2658234788 | OTOF | c.4362+50C>A (n.4362+50C>A) c.2061+50C>A (n.2061+50C>A) c.2121+50C>A (n.2121+50C>A) c.2292+50C>A (n.2292+50C>A) c.4347+50C>A (n.4347+50C>A) c.4407+50C>A (n.4407+50C>A) c.4302+50C>A (n.4302+50C>A) | gnomAD v4 |
2 | g.26467050G>A | CA1563196 | OTOF | c.4362+49C>T (n.4362+49C>T) c.2061+49C>T (n.2061+49C>T) c.2121+49C>T (n.2121+49C>T) c.2292+49C>T (n.2292+49C>T) c.4347+49C>T (n.4347+49C>T) c.4407+49C>T (n.4407+49C>T) c.4302+49C>T (n.4302+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467050G>C | CA767269948 | OTOF | c.4362+49C>G (n.4362+49C>G) c.2061+49C>G (n.2061+49C>G) c.2121+49C>G (n.2121+49C>G) c.2292+49C>G (n.2292+49C>G) c.4347+49C>G (n.4347+49C>G) c.4407+49C>G (n.4407+49C>G) c.4302+49C>G (n.4302+49C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467050G= | CA1239817787 | OTOF | c.4362+49C= (n.4362+49C=) c.2061+49C= (n.2061+49C=) c.2121+49C= (n.2121+49C=) c.2292+49C= (n.2292+49C=) c.4347+49C= (n.4347+49C=) c.4407+49C= (n.4407+49C=) c.4302+49C= (n.4302+49C=) | |
2 | g.26467050G>T | CA531761711 | OTOF | c.4362+49C>A (n.4362+49C>A) c.2061+49C>A (n.2061+49C>A) c.2121+49C>A (n.2121+49C>A) c.2292+49C>A (n.2292+49C>A) c.4347+49C>A (n.4347+49C>A) c.4407+49C>A (n.4407+49C>A) c.4302+49C>A (n.4302+49C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467051G>A | CA2576699100 | OTOF | c.4362+48C>T (n.4362+48C>T) c.2061+48C>T (n.2061+48C>T) c.2121+48C>T (n.2121+48C>T) c.2292+48C>T (n.2292+48C>T) c.4347+48C>T (n.4347+48C>T) c.4407+48C>T (n.4407+48C>T) c.4302+48C>T (n.4302+48C>T) | dbSNP gnomAD v4 |
2 | g.26467051G>C | CA44413536 | OTOF | c.4362+48C>G (n.4362+48C>G) c.2061+48C>G (n.2061+48C>G) c.2121+48C>G (n.2121+48C>G) c.2292+48C>G (n.2292+48C>G) c.4347+48C>G (n.4347+48C>G) c.4407+48C>G (n.4407+48C>G) c.4302+48C>G (n.4302+48C>G) | dbSNP gnomAD v4 |
2 | g.26467051G= | CA1239817789 | OTOF | c.4362+48C= (n.4362+48C=) c.2061+48C= (n.2061+48C=) c.2121+48C= (n.2121+48C=) c.2292+48C= (n.2292+48C=) c.4347+48C= (n.4347+48C=) c.4407+48C= (n.4407+48C=) c.4302+48C= (n.4302+48C=) | |
2 | g.26467051G>T | CA2658234789 | OTOF | c.4362+48C>A (n.4362+48C>A) c.2061+48C>A (n.2061+48C>A) c.2121+48C>A (n.2121+48C>A) c.2292+48C>A (n.2292+48C>A) c.4347+48C>A (n.4347+48C>A) c.4407+48C>A (n.4407+48C>A) c.4302+48C>A (n.4302+48C>A) | gnomAD v4 |
2 | g.26467052G>A | CA1563197 | OTOF | c.4362+47C>T (n.4362+47C>T) c.2061+47C>T (n.2061+47C>T) c.2121+47C>T (n.2121+47C>T) c.2292+47C>T (n.2292+47C>T) c.4347+47C>T (n.4347+47C>T) c.4407+47C>T (n.4407+47C>T) c.4302+47C>T (n.4302+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467052G>C | CA531761712 | OTOF | c.4362+47C>G (n.4362+47C>G) c.2061+47C>G (n.2061+47C>G) c.2121+47C>G (n.2121+47C>G) c.2292+47C>G (n.2292+47C>G) c.4347+47C>G (n.4347+47C>G) c.4407+47C>G (n.4407+47C>G) c.4302+47C>G (n.4302+47C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467052G= | CA1239817790 | OTOF | c.4362+47C= (n.4362+47C=) c.2061+47C= (n.2061+47C=) c.2121+47C= (n.2121+47C=) c.2292+47C= (n.2292+47C=) c.4347+47C= (n.4347+47C=) c.4407+47C= (n.4407+47C=) c.4302+47C= (n.4302+47C=) | |
2 | g.26467052G>T | CA2658234790 | OTOF | c.4362+47C>A (n.4362+47C>A) c.2061+47C>A (n.2061+47C>A) c.2121+47C>A (n.2121+47C>A) c.2292+47C>A (n.2292+47C>A) c.4347+47C>A (n.4347+47C>A) c.4407+47C>A (n.4407+47C>A) c.4302+47C>A (n.4302+47C>A) | gnomAD v4 |
2 | g.26467052_26467053insGC | CA2658234792 | OTOF | c.4362+46_4362+47insGC (n.4362+46_4362+47insGC) c.2061+46_2061+47insGC (n.2061+46_2061+47insGC) c.2121+46_2121+47insGC (n.2121+46_2121+47insGC) c.2292+46_2292+47insGC (n.2292+46_2292+47insGC) c.4347+46_4347+47insGC (n.4347+46_4347+47insGC) c.4407+46_4407+47insGC (n.4407+46_4407+47insGC) c.4302+46_4302+47insGC (n.4302+46_4302+47insGC) | gnomAD v4 |
2 | g.26467053del | CA2658234793 | OTOF | c.4362+46del (n.4362+46del) c.2061+46del (n.2061+46del) c.2121+46del (n.2121+46del) c.2292+46del (n.2292+46del) c.4347+46del (n.4347+46del) c.4407+46del (n.4407+46del) c.4302+46del (n.4302+46del) | gnomAD v4 |
2 | g.26467053C= | CA1239817792 | OTOF | c.4362+46G= (n.4362+46G=) c.2061+46G= (n.2061+46G=) c.2121+46G= (n.2121+46G=) c.2292+46G= (n.2292+46G=) c.4347+46G= (n.4347+46G=) c.4407+46G= (n.4407+46G=) c.4302+46G= (n.4302+46G=) | |
2 | g.26467053C>T | CA531761714 | OTOF | c.4362+46G>A (n.4362+46G>A) c.2061+46G>A (n.2061+46G>A) c.2121+46G>A (n.2121+46G>A) c.2292+46G>A (n.2292+46G>A) c.4347+46G>A (n.4347+46G>A) c.4407+46G>A (n.4407+46G>A) c.4302+46G>A (n.4302+46G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467053_26467054insGGGGGGGACCCGGGGGGGGGGCC | CA2658234791 | OTOF | c.4362+46_4362+47insGCCCCCCCCCCGGGTCCCCCCCG (n.4362+46_4362+47insGCCCCCCCCCCGGGTCCCCCCCG) c.2061+46_2061+47insGCCCCCCCCCCGGGTCCCCCCCG (n.2061+46_2061+47insGCCCCCCCCCCGGGTCCCCCCCG) c.2121+46_2121+47insGCCCCCCCCCCGGGTCCCCCCCG (n.2121+46_2121+47insGCCCCCCCCCCGGGTCCCCCCCG) c.2292+46_2292+47insGCCCCCCCCCCGGGTCCCCCCCG (n.2292+46_2292+47insGCCCCCCCCCCGGGTCCCCCCCG) c.4347+46_4347+47insGCCCCCCCCCCGGGTCCCCCCCG (n.4347+46_4347+47insGCCCCCCCCCCGGGTCCCCCCCG) c.4407+46_4407+47insGCCCCCCCCCCGGGTCCCCCCCG (n.4407+46_4407+47insGCCCCCCCCCCGGGTCCCCCCCG) c.4302+46_4302+47insGCCCCCCCCCCGGGTCCCCCCCG (n.4302+46_4302+47insGCCCCCCCCCCGGGTCCCCCCCG) | gnomAD v4 |
2 | g.26467053dup | CA531761713 | OTOF | c.4362+46dup (n.4362+46dup) c.2061+46dup (n.2061+46dup) c.2121+46dup (n.2121+46dup) c.2292+46dup (n.2292+46dup) c.4347+46dup (n.4347+46dup) c.4407+46dup (n.4407+46dup) c.4302+46dup (n.4302+46dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467054A= | CA1239817794 | OTOF | c.4362+45T= (n.4362+45T=) c.2061+45T= (n.2061+45T=) c.2121+45T= (n.2121+45T=) c.2292+45T= (n.2292+45T=) c.4347+45T= (n.4347+45T=) c.4407+45T= (n.4407+45T=) c.4302+45T= (n.4302+45T=) | |
2 | g.26467054A>G | CA1563198 | OTOF | c.4362+45T>C (n.4362+45T>C) c.2061+45T>C (n.2061+45T>C) c.2121+45T>C (n.2121+45T>C) c.2292+45T>C (n.2292+45T>C) c.4347+45T>C (n.4347+45T>C) c.4407+45T>C (n.4407+45T>C) c.4302+45T>C (n.4302+45T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467055A= | CA1239817795 | OTOF | c.4362+44T= (n.4362+44T=) c.2061+44T= (n.2061+44T=) c.2121+44T= (n.2121+44T=) c.2292+44T= (n.2292+44T=) c.4347+44T= (n.4347+44T=) c.4407+44T= (n.4407+44T=) c.4302+44T= (n.4302+44T=) | |
2 | g.26467055A>C | CA2504001037 | OTOF | c.4362+44T>G (n.4362+44T>G) c.2061+44T>G (n.2061+44T>G) c.2121+44T>G (n.2121+44T>G) c.2292+44T>G (n.2292+44T>G) c.4347+44T>G (n.4347+44T>G) c.4407+44T>G (n.4407+44T>G) c.4302+44T>G (n.4302+44T>G) | gnomAD v4 |
2 | g.26467055A>G | CA1239817796 | OTOF | c.4362+44T>C (n.4362+44T>C) c.2061+44T>C (n.2061+44T>C) c.2121+44T>C (n.2121+44T>C) c.2292+44T>C (n.2292+44T>C) c.4347+44T>C (n.4347+44T>C) c.4407+44T>C (n.4407+44T>C) c.4302+44T>C (n.4302+44T>C) | dbSNP gnomAD v4 |
2 | g.26467056G>A | CA531761715 | OTOF | c.4362+43C>T (n.4362+43C>T) c.2061+43C>T (n.2061+43C>T) c.2121+43C>T (n.2121+43C>T) c.2292+43C>T (n.2292+43C>T) c.4347+43C>T (n.4347+43C>T) c.4407+43C>T (n.4407+43C>T) c.4302+43C>T (n.4302+43C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467056G= | CA1239817798 | OTOF | c.4362+43C= (n.4362+43C=) c.2061+43C= (n.2061+43C=) c.2121+43C= (n.2121+43C=) c.2292+43C= (n.2292+43C=) c.4347+43C= (n.4347+43C=) c.4407+43C= (n.4407+43C=) c.4302+43C= (n.4302+43C=) | |
2 | g.26467056G>T | CA2658234794 | OTOF | c.4362+43C>A (n.4362+43C>A) c.2061+43C>A (n.2061+43C>A) c.2121+43C>A (n.2121+43C>A) c.2292+43C>A (n.2292+43C>A) c.4347+43C>A (n.4347+43C>A) c.4407+43C>A (n.4407+43C>A) c.4302+43C>A (n.4302+43C>A) | gnomAD v4 |
2 | g.26467057G>T | CA2658234795 | OTOF | c.4362+42C>A (n.4362+42C>A) c.2061+42C>A (n.2061+42C>A) c.2121+42C>A (n.2121+42C>A) c.2292+42C>A (n.2292+42C>A) c.4347+42C>A (n.4347+42C>A) c.4407+42C>A (n.4407+42C>A) c.4302+42C>A (n.4302+42C>A) | gnomAD v4 |
2 | g.26467058G>A | CA2658234796 | OTOF | c.4362+41C>T (n.4362+41C>T) c.2061+41C>T (n.2061+41C>T) c.2121+41C>T (n.2121+41C>T) c.2292+41C>T (n.2292+41C>T) c.4347+41C>T (n.4347+41C>T) c.4407+41C>T (n.4407+41C>T) c.4302+41C>T (n.4302+41C>T) | gnomAD v4 |
2 | g.26467058G>C | CA531761716 | OTOF | c.4362+41C>G (n.4362+41C>G) c.2061+41C>G (n.2061+41C>G) c.2121+41C>G (n.2121+41C>G) c.2292+41C>G (n.2292+41C>G) c.4347+41C>G (n.4347+41C>G) c.4407+41C>G (n.4407+41C>G) c.4302+41C>G (n.4302+41C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467058G= | CA1239817799 | OTOF | c.4362+41C= (n.4362+41C=) c.2061+41C= (n.2061+41C=) c.2121+41C= (n.2121+41C=) c.2292+41C= (n.2292+41C=) c.4347+41C= (n.4347+41C=) c.4407+41C= (n.4407+41C=) c.4302+41C= (n.4302+41C=) | |
2 | g.26467059C= | CA1239817801 | OTOF | c.4362+40G= (n.4362+40G=) c.2061+40G= (n.2061+40G=) c.2121+40G= (n.2121+40G=) c.2292+40G= (n.2292+40G=) c.4347+40G= (n.4347+40G=) c.4407+40G= (n.4407+40G=) c.4302+40G= (n.4302+40G=) | |
2 | g.26467059C>T | CA1563199 | OTOF | c.4362+40G>A (n.4362+40G>A) c.2061+40G>A (n.2061+40G>A) c.2121+40G>A (n.2121+40G>A) c.2292+40G>A (n.2292+40G>A) c.4347+40G>A (n.4347+40G>A) c.4407+40G>A (n.4407+40G>A) c.4302+40G>A (n.4302+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467060T>G | CA2658234797 | OTOF | c.4362+39A>C (n.4362+39A>C) c.2061+39A>C (n.2061+39A>C) c.2121+39A>C (n.2121+39A>C) c.2292+39A>C (n.2292+39A>C) c.4347+39A>C (n.4347+39A>C) c.4407+39A>C (n.4407+39A>C) c.4302+39A>C (n.4302+39A>C) | gnomAD v4 |
2 | g.26467061G>A | CA44413552 | OTOF | c.4362+38C>T (n.4362+38C>T) c.2061+38C>T (n.2061+38C>T) c.2121+38C>T (n.2121+38C>T) c.2292+38C>T (n.2292+38C>T) c.4347+38C>T (n.4347+38C>T) c.4407+38C>T (n.4407+38C>T) c.4302+38C>T (n.4302+38C>T) | dbSNP |
2 | g.26467061G= | CA1239817802 | OTOF | c.4362+38C= (n.4362+38C=) c.2061+38C= (n.2061+38C=) c.2121+38C= (n.2121+38C=) c.2292+38C= (n.2292+38C=) c.4347+38C= (n.4347+38C=) c.4407+38C= (n.4407+38C=) c.4302+38C= (n.4302+38C=) | |
2 | g.26467062G>C | CA2658234798 | OTOF | c.4362+37C>G (n.4362+37C>G) c.2061+37C>G (n.2061+37C>G) c.2121+37C>G (n.2121+37C>G) c.2292+37C>G (n.2292+37C>G) c.4347+37C>G (n.4347+37C>G) c.4407+37C>G (n.4407+37C>G) c.4302+37C>G (n.4302+37C>G) | gnomAD v4 |
2 | g.26467062G>T | CA2658234799 | OTOF | c.4362+37C>A (n.4362+37C>A) c.2061+37C>A (n.2061+37C>A) c.2121+37C>A (n.2121+37C>A) c.2292+37C>A (n.2292+37C>A) c.4347+37C>A (n.4347+37C>A) c.4407+37C>A (n.4407+37C>A) c.4302+37C>A (n.4302+37C>A) | gnomAD v4 |
2 | g.26467063C>A | CA44413566 | OTOF | c.4362+36G>T (n.4362+36G>T) c.2061+36G>T (n.2061+36G>T) c.2121+36G>T (n.2121+36G>T) c.2292+36G>T (n.2292+36G>T) c.4347+36G>T (n.4347+36G>T) c.4407+36G>T (n.4407+36G>T) c.4302+36G>T (n.4302+36G>T) | dbSNP |
2 | g.26467063C= | CA1239817804 | OTOF | c.4362+36G= (n.4362+36G=) c.2061+36G= (n.2061+36G=) c.2121+36G= (n.2121+36G=) c.2292+36G= (n.2292+36G=) c.4347+36G= (n.4347+36G=) c.4407+36G= (n.4407+36G=) c.4302+36G= (n.4302+36G=) | |
2 | g.26467063C>T | CA1563200 | OTOF | c.4362+36G>A (n.4362+36G>A) c.2061+36G>A (n.2061+36G>A) c.2121+36G>A (n.2121+36G>A) c.2292+36G>A (n.2292+36G>A) c.4347+36G>A (n.4347+36G>A) c.4407+36G>A (n.4407+36G>A) c.4302+36G>A (n.4302+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467064G>A | CA1563201 | OTOF | c.4362+35C>T (n.4362+35C>T) c.2061+35C>T (n.2061+35C>T) c.2121+35C>T (n.2121+35C>T) c.2292+35C>T (n.2292+35C>T) c.4347+35C>T (n.4347+35C>T) c.4407+35C>T (n.4407+35C>T) c.4302+35C>T (n.4302+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467064G= | CA1239817806 | OTOF | c.4362+35C= (n.4362+35C=) c.2061+35C= (n.2061+35C=) c.2121+35C= (n.2121+35C=) c.2292+35C= (n.2292+35C=) c.4347+35C= (n.4347+35C=) c.4407+35C= (n.4407+35C=) c.4302+35C= (n.4302+35C=) | |
2 | g.26467064G>T | CA2658234800 | OTOF | c.4362+35C>A (n.4362+35C>A) c.2061+35C>A (n.2061+35C>A) c.2121+35C>A (n.2121+35C>A) c.2292+35C>A (n.2292+35C>A) c.4347+35C>A (n.4347+35C>A) c.4407+35C>A (n.4407+35C>A) c.4302+35C>A (n.4302+35C>A) | gnomAD v4 |
2 | g.26467065G>A | CA767269977 | OTOF | c.4362+34C>T (n.4362+34C>T) c.2061+34C>T (n.2061+34C>T) c.2121+34C>T (n.2121+34C>T) c.2292+34C>T (n.2292+34C>T) c.4347+34C>T (n.4347+34C>T) c.4407+34C>T (n.4407+34C>T) c.4302+34C>T (n.4302+34C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467065G= | CA1239817808 | OTOF | c.4362+34C= (n.4362+34C=) c.2061+34C= (n.2061+34C=) c.2121+34C= (n.2121+34C=) c.2292+34C= (n.2292+34C=) c.4347+34C= (n.4347+34C=) c.4407+34C= (n.4407+34C=) c.4302+34C= (n.4302+34C=) | |
2 | g.26467066G>A | CA1563202 | OTOF | c.4362+33C>T (n.4362+33C>T) c.2061+33C>T (n.2061+33C>T) c.2121+33C>T (n.2121+33C>T) c.2292+33C>T (n.2292+33C>T) c.4347+33C>T (n.4347+33C>T) c.4407+33C>T (n.4407+33C>T) c.4302+33C>T (n.4302+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467066G= | CA1239817809 | OTOF | c.4362+33C= (n.4362+33C=) c.2061+33C= (n.2061+33C=) c.2121+33C= (n.2121+33C=) c.2292+33C= (n.2292+33C=) c.4347+33C= (n.4347+33C=) c.4407+33C= (n.4407+33C=) c.4302+33C= (n.4302+33C=) | |
2 | g.26467066G>T | CA2658234801 | OTOF | c.4362+33C>A (n.4362+33C>A) c.2061+33C>A (n.2061+33C>A) c.2121+33C>A (n.2121+33C>A) c.2292+33C>A (n.2292+33C>A) c.4347+33C>A (n.4347+33C>A) c.4407+33C>A (n.4407+33C>A) c.4302+33C>A (n.4302+33C>A) | gnomAD v4 |
2 | g.26467067T>A | CA1563204 | OTOF | c.4362+32A>T (n.4362+32A>T) c.2061+32A>T (n.2061+32A>T) c.2121+32A>T (n.2121+32A>T) c.2292+32A>T (n.2292+32A>T) c.4347+32A>T (n.4347+32A>T) c.4407+32A>T (n.4407+32A>T) c.4302+32A>T (n.4302+32A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467067T>G | CA1563203 | OTOF | c.4362+32A>C (n.4362+32A>C) c.2061+32A>C (n.2061+32A>C) c.2121+32A>C (n.2121+32A>C) c.2292+32A>C (n.2292+32A>C) c.4347+32A>C (n.4347+32A>C) c.4407+32A>C (n.4407+32A>C) c.4302+32A>C (n.4302+32A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467067T= | CA1239817811 | OTOF | c.4362+32A= (n.4362+32A=) c.2061+32A= (n.2061+32A=) c.2121+32A= (n.2121+32A=) c.2292+32A= (n.2292+32A=) c.4347+32A= (n.4347+32A=) c.4407+32A= (n.4407+32A=) c.4302+32A= (n.4302+32A=) | |
2 | g.26467068G>A | CA2658234802 | OTOF | c.4362+31C>T (n.4362+31C>T) c.2061+31C>T (n.2061+31C>T) c.2121+31C>T (n.2121+31C>T) c.2292+31C>T (n.2292+31C>T) c.4347+31C>T (n.4347+31C>T) c.4407+31C>T (n.4407+31C>T) c.4302+31C>T (n.4302+31C>T) | gnomAD v4 |
2 | g.26467068G>T | CA2658234803 | OTOF | c.4362+31C>A (n.4362+31C>A) c.2061+31C>A (n.2061+31C>A) c.2121+31C>A (n.2121+31C>A) c.2292+31C>A (n.2292+31C>A) c.4347+31C>A (n.4347+31C>A) c.4407+31C>A (n.4407+31C>A) c.4302+31C>A (n.4302+31C>A) | gnomAD v4 |
2 | g.26467069C>T | CA2576699108 | OTOF | c.4362+30G>A (n.4362+30G>A) c.2061+30G>A (n.2061+30G>A) c.2121+30G>A (n.2121+30G>A) c.2292+30G>A (n.2292+30G>A) c.4347+30G>A (n.4347+30G>A) c.4407+30G>A (n.4407+30G>A) c.4302+30G>A (n.4302+30G>A) | |
2 | g.26467071C>G | CA2658234804 | OTOF | c.4362+28G>C (n.4362+28G>C) c.2061+28G>C (n.2061+28G>C) c.2121+28G>C (n.2121+28G>C) c.2292+28G>C (n.2292+28G>C) c.4347+28G>C (n.4347+28G>C) c.4407+28G>C (n.4407+28G>C) c.4302+28G>C (n.4302+28G>C) | gnomAD v4 |
2 | g.26467073G>A | CA531761718 | OTOF | c.4362+26C>T (n.4362+26C>T) c.2061+26C>T (n.2061+26C>T) c.2121+26C>T (n.2121+26C>T) c.2292+26C>T (n.2292+26C>T) c.4347+26C>T (n.4347+26C>T) c.4407+26C>T (n.4407+26C>T) c.4302+26C>T (n.4302+26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467073G= | CA1239817812 | OTOF | c.4362+26C= (n.4362+26C=) c.2061+26C= (n.2061+26C=) c.2121+26C= (n.2121+26C=) c.2292+26C= (n.2292+26C=) c.4347+26C= (n.4347+26C=) c.4407+26C= (n.4407+26C=) c.4302+26C= (n.4302+26C=) | |
2 | g.26467074_26467075insAGAT | CA2556433613 | OTOF | c.4362+24_4362+25insATCT (n.4362+24_4362+25insATCT) c.2061+24_2061+25insATCT (n.2061+24_2061+25insATCT) c.2121+24_2121+25insATCT (n.2121+24_2121+25insATCT) c.2292+24_2292+25insATCT (n.2292+24_2292+25insATCT) c.4347+24_4347+25insATCT (n.4347+24_4347+25insATCT) c.4407+24_4407+25insATCT (n.4407+24_4407+25insATCT) c.4302+24_4302+25insATCT (n.4302+24_4302+25insATCT) | |
2 | g.26467075C>T | CA2658234806 | OTOF | c.4362+24G>A (n.4362+24G>A) c.2061+24G>A (n.2061+24G>A) c.2121+24G>A (n.2121+24G>A) c.2292+24G>A (n.2292+24G>A) c.4347+24G>A (n.4347+24G>A) c.4407+24G>A (n.4407+24G>A) c.4302+24G>A (n.4302+24G>A) | gnomAD v4 |
2 | g.26467078_26467096dup | CA2658234805 | OTOF | c.4362+6_4362+24dup (n.4362+6_4362+24dup) c.2061+6_2061+24dup (n.2061+6_2061+24dup) c.2121+6_2121+24dup (n.2121+6_2121+24dup) c.2292+6_2292+24dup (n.2292+6_2292+24dup) c.4347+6_4347+24dup (n.4347+6_4347+24dup) c.4407+6_4407+24dup (n.4407+6_4407+24dup) c.4302+6_4302+24dup (n.4302+6_4302+24dup) | gnomAD v4 |
2 | g.26467075_26467076insGGAAGAGCG | CA2538749090 | OTOF | c.4362+23_4362+24insCGCTCTTCC (n.4362+23_4362+24insCGCTCTTCC) c.2061+23_2061+24insCGCTCTTCC (n.2061+23_2061+24insCGCTCTTCC) c.2121+23_2121+24insCGCTCTTCC (n.2121+23_2121+24insCGCTCTTCC) c.2292+23_2292+24insCGCTCTTCC (n.2292+23_2292+24insCGCTCTTCC) c.4347+23_4347+24insCGCTCTTCC (n.4347+23_4347+24insCGCTCTTCC) c.4407+23_4407+24insCGCTCTTCC (n.4407+23_4407+24insCGCTCTTCC) c.4302+23_4302+24insCGCTCTTCC (n.4302+23_4302+24insCGCTCTTCC) | |
2 | g.26467076T>C | CA44413599 | OTOF | c.4362+23A>G (n.4362+23A>G) c.2061+23A>G (n.2061+23A>G) c.2121+23A>G (n.2121+23A>G) c.2292+23A>G (n.2292+23A>G) c.4347+23A>G (n.4347+23A>G) c.4407+23A>G (n.4407+23A>G) c.4302+23A>G (n.4302+23A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467076T= | CA1239817814 | OTOF | c.4362+23A= (n.4362+23A=) c.2061+23A= (n.2061+23A=) c.2121+23A= (n.2121+23A=) c.2292+23A= (n.2292+23A=) c.4347+23A= (n.4347+23A=) c.4407+23A= (n.4407+23A=) c.4302+23A= (n.4302+23A=) | |
2 | g.26467076_26467077insCGTGTA | CA2513231203 | OTOF | c.4362+22_4362+23insTACACG (n.4362+22_4362+23insTACACG) c.2061+22_2061+23insTACACG (n.2061+22_2061+23insTACACG) c.2121+22_2121+23insTACACG (n.2121+22_2121+23insTACACG) c.2292+22_2292+23insTACACG (n.2292+22_2292+23insTACACG) c.4347+22_4347+23insTACACG (n.4347+22_4347+23insTACACG) c.4407+22_4407+23insTACACG (n.4407+22_4407+23insTACACG) c.4302+22_4302+23insTACACG (n.4302+22_4302+23insTACACG) | |
2 | g.26467078G>A | CA1028607458 | OTOF | c.4362+21C>T (n.4362+21C>T) c.2061+21C>T (n.2061+21C>T) c.2121+21C>T (n.2121+21C>T) c.2292+21C>T (n.2292+21C>T) c.4347+21C>T (n.4347+21C>T) c.4407+21C>T (n.4407+21C>T) c.4302+21C>T (n.4302+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467078G= | CA1239817815 | OTOF | c.4362+21C= (n.4362+21C=) c.2061+21C= (n.2061+21C=) c.2121+21C= (n.2121+21C=) c.2292+21C= (n.2292+21C=) c.4347+21C= (n.4347+21C=) c.4407+21C= (n.4407+21C=) c.4302+21C= (n.4302+21C=) | |
2 | g.26467079G>A | CA767269986 | OTOF | c.4362+20C>T (n.4362+20C>T) c.2061+20C>T (n.2061+20C>T) c.2121+20C>T (n.2121+20C>T) c.2292+20C>T (n.2292+20C>T) c.4347+20C>T (n.4347+20C>T) c.4407+20C>T (n.4407+20C>T) c.4302+20C>T (n.4302+20C>T) | dbSNP |
2 | g.26467079G= | CA1239817817 | OTOF | c.4362+20C= (n.4362+20C=) c.2061+20C= (n.2061+20C=) c.2121+20C= (n.2121+20C=) c.2292+20C= (n.2292+20C=) c.4347+20C= (n.4347+20C=) c.4407+20C= (n.4407+20C=) c.4302+20C= (n.4302+20C=) | |
2 | g.26467079G>T | CA2658234807 | OTOF | c.4362+20C>A (n.4362+20C>A) c.2061+20C>A (n.2061+20C>A) c.2121+20C>A (n.2121+20C>A) c.2292+20C>A (n.2292+20C>A) c.4347+20C>A (n.4347+20C>A) c.4407+20C>A (n.4407+20C>A) c.4302+20C>A (n.4302+20C>A) | gnomAD v4 |
2 | g.26467080C>T | CA2658234808 | OTOF | c.4362+19G>A (n.4362+19G>A) c.2061+19G>A (n.2061+19G>A) c.2121+19G>A (n.2121+19G>A) c.2292+19G>A (n.2292+19G>A) c.4347+19G>A (n.4347+19G>A) c.4407+19G>A (n.4407+19G>A) c.4302+19G>A (n.4302+19G>A) | gnomAD v4 |
2 | g.26467082del | CA2576699109 | OTOF | c.4362+19del (n.4362+19del) c.2061+19del (n.2061+19del) c.2121+19del (n.2121+19del) c.2292+19del (n.2292+19del) c.4347+19del (n.4347+19del) c.4407+19del (n.4407+19del) c.4302+19del (n.4302+19del) | |
2 | g.26467082C>A | CA2658234809 | OTOF | c.4362+17G>T (n.4362+17G>T) c.2061+17G>T (n.2061+17G>T) c.2121+17G>T (n.2121+17G>T) c.2292+17G>T (n.2292+17G>T) c.4347+17G>T (n.4347+17G>T) c.4407+17G>T (n.4407+17G>T) c.4302+17G>T (n.4302+17G>T) | gnomAD v4 |
2 | g.26467082C= | CA1239817818 | OTOF | c.4362+17G= (n.4362+17G=) c.2061+17G= (n.2061+17G=) c.2121+17G= (n.2121+17G=) c.2292+17G= (n.2292+17G=) c.4347+17G= (n.4347+17G=) c.4407+17G= (n.4407+17G=) c.4302+17G= (n.4302+17G=) | |
2 | g.26467082C>G | CA2576699110 | OTOF | c.4362+17G>C (n.4362+17G>C) c.2061+17G>C (n.2061+17G>C) c.2121+17G>C (n.2121+17G>C) c.2292+17G>C (n.2292+17G>C) c.4347+17G>C (n.4347+17G>C) c.4407+17G>C (n.4407+17G>C) c.4302+17G>C (n.4302+17G>C) | ClinVar gnomAD v4 |
2 | g.26467082C>T | CA1563205 | OTOF | c.4362+17G>A (n.4362+17G>A) c.2061+17G>A (n.2061+17G>A) c.2121+17G>A (n.2121+17G>A) c.2292+17G>A (n.2292+17G>A) c.4347+17G>A (n.4347+17G>A) c.4407+17G>A (n.4407+17G>A) c.4302+17G>A (n.4302+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467083G>A | CA1239817820 | OTOF | c.4362+16C>T (n.4362+16C>T) c.2061+16C>T (n.2061+16C>T) c.2121+16C>T (n.2121+16C>T) c.2292+16C>T (n.2292+16C>T) c.4347+16C>T (n.4347+16C>T) c.4407+16C>T (n.4407+16C>T) c.4302+16C>T (n.4302+16C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467083G= | CA1239817819 | OTOF | c.4362+16C= (n.4362+16C=) c.2061+16C= (n.2061+16C=) c.2121+16C= (n.2121+16C=) c.2292+16C= (n.2292+16C=) c.4347+16C= (n.4347+16C=) c.4407+16C= (n.4407+16C=) c.4302+16C= (n.4302+16C=) | |
2 | g.26467084T>C | CA2658234810 | OTOF | c.4362+15A>G (n.4362+15A>G) c.2061+15A>G (n.2061+15A>G) c.2121+15A>G (n.2121+15A>G) c.2292+15A>G (n.2292+15A>G) c.4347+15A>G (n.4347+15A>G) c.4407+15A>G (n.4407+15A>G) c.4302+15A>G (n.4302+15A>G) | gnomAD v4 |
2 | g.26467085G>A | CA2658234811 | OTOF | c.4362+14C>T (n.4362+14C>T) c.2061+14C>T (n.2061+14C>T) c.2121+14C>T (n.2121+14C>T) c.2292+14C>T (n.2292+14C>T) c.4347+14C>T (n.4347+14C>T) c.4407+14C>T (n.4407+14C>T) c.4302+14C>T (n.4302+14C>T) | gnomAD v4 |
2 | g.26467087T>A | CA1563206 | OTOF | c.4362+12A>T (n.4362+12A>T) c.2061+12A>T (n.2061+12A>T) c.2121+12A>T (n.2121+12A>T) c.2292+12A>T (n.2292+12A>T) c.4347+12A>T (n.4347+12A>T) c.4407+12A>T (n.4407+12A>T) c.4302+12A>T (n.4302+12A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467087T= | CA1239817822 | OTOF | c.4362+12A= (n.4362+12A=) c.2061+12A= (n.2061+12A=) c.2121+12A= (n.2121+12A=) c.2292+12A= (n.2292+12A=) c.4347+12A= (n.4347+12A=) c.4407+12A= (n.4407+12A=) c.4302+12A= (n.4302+12A=) | |
2 | g.26467089C= | CA1239817823 | OTOF | c.4362+10G= (n.4362+10G=) c.2061+10G= (n.2061+10G=) c.2121+10G= (n.2121+10G=) c.2292+10G= (n.2292+10G=) c.4347+10G= (n.4347+10G=) c.4407+10G= (n.4407+10G=) c.4302+10G= (n.4302+10G=) | |
2 | g.26467089C>T | CA44413600 | OTOF | c.4362+10G>A (n.4362+10G>A) c.2061+10G>A (n.2061+10G>A) c.2121+10G>A (n.2121+10G>A) c.2292+10G>A (n.2292+10G>A) c.4347+10G>A (n.4347+10G>A) c.4407+10G>A (n.4407+10G>A) c.4302+10G>A (n.4302+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467090T>C | CA2658234812 | OTOF | c.4362+9A>G (n.4362+9A>G) c.2061+9A>G (n.2061+9A>G) c.2121+9A>G (n.2121+9A>G) c.2292+9A>G (n.2292+9A>G) c.4347+9A>G (n.4347+9A>G) c.4407+9A>G (n.4407+9A>G) c.4302+9A>G (n.4302+9A>G) | gnomAD v4 |
2 | g.26467092G>A | CA531761719 | OTOF | c.4362+7C>T (n.4362+7C>T) c.2061+7C>T (n.2061+7C>T) c.2121+7C>T (n.2121+7C>T) c.2292+7C>T (n.2292+7C>T) c.4347+7C>T (n.4347+7C>T) c.4407+7C>T (n.4407+7C>T) c.4302+7C>T (n.4302+7C>T) | dbSNP gnomAD v2 |
2 | g.26467092G>C | CA2740092763 | OTOF | c.4362+7C>G (n.4362+7C>G) c.2061+7C>G (n.2061+7C>G) c.2121+7C>G (n.2121+7C>G) c.2292+7C>G (n.2292+7C>G) c.4347+7C>G (n.4347+7C>G) c.4407+7C>G (n.4407+7C>G) c.4302+7C>G (n.4302+7C>G) | ClinVar |
2 | g.26467092G= | CA1239817824 | OTOF | c.4362+7C= (n.4362+7C=) c.2061+7C= (n.2061+7C=) c.2121+7C= (n.2121+7C=) c.2292+7C= (n.2292+7C=) c.4347+7C= (n.4347+7C=) c.4407+7C= (n.4407+7C=) c.4302+7C= (n.4302+7C=) | |
2 | g.26467092G>T | CA2658234813 | OTOF | c.4362+7C>A (n.4362+7C>A) c.2061+7C>A (n.2061+7C>A) c.2121+7C>A (n.2121+7C>A) c.2292+7C>A (n.2292+7C>A) c.4347+7C>A (n.4347+7C>A) c.4407+7C>A (n.4407+7C>A) c.4302+7C>A (n.4302+7C>A) | gnomAD v4 |
2 | g.26467093C>A | CA2658234814 | OTOF | c.4362+6G>T (n.4362+6G>T) c.2061+6G>T (n.2061+6G>T) c.2121+6G>T (n.2121+6G>T) c.2292+6G>T (n.2292+6G>T) c.4347+6G>T (n.4347+6G>T) c.4407+6G>T (n.4407+6G>T) c.4302+6G>T (n.4302+6G>T) | gnomAD v4 |
2 | g.26467094C= | CA1239817826 | OTOF | c.4362+5G= (n.4362+5G=) c.2061+5G= (n.2061+5G=) c.2121+5G= (n.2121+5G=) c.2292+5G= (n.2292+5G=) c.4347+5G= (n.4347+5G=) c.4407+5G= (n.4407+5G=) c.4302+5G= (n.4302+5G=) | |
2 | g.26467094C>G | CA531761720 | OTOF | c.4362+5G>C (n.4362+5G>C) c.2061+5G>C (n.2061+5G>C) c.2121+5G>C (n.2121+5G>C) c.2292+5G>C (n.2292+5G>C) c.4347+5G>C (n.4347+5G>C) c.4407+5G>C (n.4407+5G>C) c.4302+5G>C (n.4302+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467096G>T | CA2658234815 | OTOF | c.4362+3C>A (n.4362+3C>A) c.2061+3C>A (n.2061+3C>A) c.2121+3C>A (n.2121+3C>A) c.2292+3C>A (n.2292+3C>A) c.4347+3C>A (n.4347+3C>A) c.4407+3C>A (n.4407+3C>A) c.4302+3C>A (n.4302+3C>A) | gnomAD v4 |
2 | g.26467097A>C | CA346136687 | OTOF | c.4362+2T>G (n.4362+2T>G) c.2061+2T>G (n.2061+2T>G) c.2121+2T>G (n.2121+2T>G) c.2292+2T>G (n.2292+2T>G) c.4347+2T>G (n.4347+2T>G) c.4407+2T>G (n.4407+2T>G) c.4302+2T>G (n.4302+2T>G) | |
2 | g.26467097A>G | CA346136689 | OTOF | c.4362+2T>C (n.4362+2T>C) c.2061+2T>C (n.2061+2T>C) c.2121+2T>C (n.2121+2T>C) c.2292+2T>C (n.2292+2T>C) c.4347+2T>C (n.4347+2T>C) c.4407+2T>C (n.4407+2T>C) c.4302+2T>C (n.4302+2T>C) | |
2 | g.26467097A>T | CA346136691 | OTOF | c.4362+2T>A (n.4362+2T>A) c.2061+2T>A (n.2061+2T>A) c.2121+2T>A (n.2121+2T>A) c.2292+2T>A (n.2292+2T>A) c.4347+2T>A (n.4347+2T>A) c.4407+2T>A (n.4407+2T>A) c.4302+2T>A (n.4302+2T>A) | |
2 | g.26467098C>A | CA346136694 | OTOF | c.4362+1G>T (n.4362+1G>T) c.2061+1G>T (n.2061+1G>T) c.2121+1G>T (n.2121+1G>T) c.2292+1G>T (n.2292+1G>T) c.4347+1G>T (n.4347+1G>T) c.4407+1G>T (n.4407+1G>T) c.4302+1G>T (n.4302+1G>T) | gnomAD v4 |
2 | g.26467098C= | CA1239817827 | OTOF | c.4362+1G= (n.4362+1G=) c.2061+1G= (n.2061+1G=) c.2121+1G= (n.2121+1G=) c.2292+1G= (n.2292+1G=) c.4347+1G= (n.4347+1G=) c.4407+1G= (n.4407+1G=) c.4302+1G= (n.4302+1G=) | |
2 | g.26467098C>G | CA346136695 | OTOF | c.4362+1G>C (n.4362+1G>C) c.2061+1G>C (n.2061+1G>C) c.2121+1G>C (n.2121+1G>C) c.2292+1G>C (n.2292+1G>C) c.4347+1G>C (n.4347+1G>C) c.4407+1G>C (n.4407+1G>C) c.4302+1G>C (n.4302+1G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.26467098C>T | CA346136692 | OTOF | c.4362+1G>A (n.4362+1G>A) c.2061+1G>A (n.2061+1G>A) c.2121+1G>A (n.2121+1G>A) c.2292+1G>A (n.2292+1G>A) c.4347+1G>A (n.4347+1G>A) c.4407+1G>A (n.4407+1G>A) c.4302+1G>A (n.4302+1G>A) | dbSNP gnomAD v4 |
2 | g.26467099C>A | CA346136697 | OTOF | c.4362G>T (p.Lys1454Asn) c.2061G>T (p.Lys687Asn) c.2121G>T (p.Lys707Asn) c.2292G>T (p.Lys764Asn) c.4347G>T (p.Lys1449Asn) c.4407G>T (p.Lys1469Asn) c.4302G>T (p.Lys1434Asn) | |
2 | g.26467099C>G | CA346136698 | OTOF | c.4362G>C (p.Lys1454Asn) c.2061G>C (p.Lys687Asn) c.2121G>C (p.Lys707Asn) c.2292G>C (p.Lys764Asn) c.4347G>C (p.Lys1449Asn) c.4407G>C (p.Lys1469Asn) c.4302G>C (p.Lys1434Asn) | gnomAD v4 |
2 | g.26467099C>T | CA425359546 | OTOF | c.4362G>A (p.Lys1454=) c.2061G>A (p.Lys687=) c.2121G>A (p.Lys707=) c.2292G>A (p.Lys764=) c.4347G>A (p.Lys1449=) c.4407G>A (p.Lys1469=) c.4302G>A (p.Lys1434=) | |
2 | g.26467100T>A | CA346136699 | OTOF | c.4361A>T (p.Lys1454Met) c.2060A>T (p.Lys687Met) c.2120A>T (p.Lys707Met) c.2291A>T (p.Lys764Met) c.4346A>T (p.Lys1449Met) c.4406A>T (p.Lys1469Met) c.4301A>T (p.Lys1434Met) | |
2 | g.26467100T>C | CA346136700 | OTOF | c.4361A>G (p.Lys1454Arg) c.2060A>G (p.Lys687Arg) c.2120A>G (p.Lys707Arg) c.2291A>G (p.Lys764Arg) c.4346A>G (p.Lys1449Arg) c.4406A>G (p.Lys1469Arg) c.4301A>G (p.Lys1434Arg) | gnomAD v4 |
2 | g.26467100T>G | CA346136702 | OTOF | c.4361A>C (p.Lys1454Thr) c.2060A>C (p.Lys687Thr) c.2120A>C (p.Lys707Thr) c.2291A>C (p.Lys764Thr) c.4346A>C (p.Lys1449Thr) c.4406A>C (p.Lys1469Thr) c.4301A>C (p.Lys1434Thr) | |
2 | g.26467101T>A | CA346136706 | OTOF | c.4360A>T (p.Lys1454Ter) c.2059A>T (p.Lys687Ter) c.2119A>T (p.Lys707Ter) c.2290A>T (p.Lys764Ter) c.4345A>T (p.Lys1449Ter) c.4405A>T (p.Lys1469Ter) c.4300A>T (p.Lys1434Ter) | |
2 | g.26467101T>C | CA346136703 | OTOF | c.4360A>G (p.Lys1454Glu) c.2059A>G (p.Lys687Glu) c.2119A>G (p.Lys707Glu) c.2290A>G (p.Lys764Glu) c.4345A>G (p.Lys1449Glu) c.4405A>G (p.Lys1469Glu) c.4300A>G (p.Lys1434Glu) | |
2 | g.26467101T>G | CA346136705 | OTOF | c.4360A>C (p.Lys1454Gln) c.2059A>C (p.Lys687Gln) c.2119A>C (p.Lys707Gln) c.2290A>C (p.Lys764Gln) c.4345A>C (p.Lys1449Gln) c.4405A>C (p.Lys1469Gln) c.4300A>C (p.Lys1434Gln) | |
2 | g.26467102G>A | CA425359548 | OTOF | c.4359C>T (p.Phe1453=) c.2058C>T (p.Phe686=) c.2118C>T (p.Phe706=) c.2289C>T (p.Phe763=) c.4344C>T (p.Phe1448=) c.4404C>T (p.Phe1468=) c.4299C>T (p.Phe1433=) | |
2 | g.26467102G>C | CA346136708 | OTOF | c.4359C>G (p.Phe1453Leu) c.2058C>G (p.Phe686Leu) c.2118C>G (p.Phe706Leu) c.2289C>G (p.Phe763Leu) c.4344C>G (p.Phe1448Leu) c.4404C>G (p.Phe1468Leu) c.4299C>G (p.Phe1433Leu) | |
2 | g.26467102G>T | CA346136709 | OTOF | c.4359C>A (p.Phe1453Leu) c.2058C>A (p.Phe686Leu) c.2118C>A (p.Phe706Leu) c.2289C>A (p.Phe763Leu) c.4344C>A (p.Phe1448Leu) c.4404C>A (p.Phe1468Leu) c.4299C>A (p.Phe1433Leu) | gnomAD v4 |
2 | g.26467103A>C | CA346136711 | OTOF | c.4358T>G (p.Phe1453Cys) c.2057T>G (p.Phe686Cys) c.2117T>G (p.Phe706Cys) c.2288T>G (p.Phe763Cys) c.4343T>G (p.Phe1448Cys) c.4403T>G (p.Phe1468Cys) c.4298T>G (p.Phe1433Cys) | |
2 | g.26467103A>G | CA346136712 | OTOF | c.4358T>C (p.Phe1453Ser) c.2057T>C (p.Phe686Ser) c.2117T>C (p.Phe706Ser) c.2288T>C (p.Phe763Ser) c.4343T>C (p.Phe1448Ser) c.4403T>C (p.Phe1468Ser) c.4298T>C (p.Phe1433Ser) | |
2 | g.26467103A>T | CA346136714 | OTOF | c.4358T>A (p.Phe1453Tyr) c.2057T>A (p.Phe686Tyr) c.2117T>A (p.Phe706Tyr) c.2288T>A (p.Phe763Tyr) c.4343T>A (p.Phe1448Tyr) c.4403T>A (p.Phe1468Tyr) c.4298T>A (p.Phe1433Tyr) | |
2 | g.26467104A= | CA1239817830 | OTOF | c.4357T= (p.Phe1453=) c.2056T= (p.Phe686=) c.2116T= (p.Phe706=) c.2287T= (p.Phe763=) c.4342T= (p.Phe1448=) c.4402T= (p.Phe1468=) c.4297T= (p.Phe1433=) | |
2 | g.26467104A>C | CA346136718 | OTOF | c.4357T>G (p.Phe1453Val) c.2056T>G (p.Phe686Val) c.2116T>G (p.Phe706Val) c.2287T>G (p.Phe763Val) c.4342T>G (p.Phe1448Val) c.4402T>G (p.Phe1468Val) c.4297T>G (p.Phe1433Val) | |
2 | g.26467104A>G | CA346136715 | OTOF | c.4357T>C (p.Phe1453Leu) c.2056T>C (p.Phe686Leu) c.2116T>C (p.Phe706Leu) c.2287T>C (p.Phe763Leu) c.4342T>C (p.Phe1448Leu) c.4402T>C (p.Phe1468Leu) c.4297T>C (p.Phe1433Leu) | dbSNP gnomAD v4 |
2 | g.26467104A>T | CA346136717 | OTOF | c.4357T>A (p.Phe1453Ile) c.2056T>A (p.Phe686Ile) c.2116T>A (p.Phe706Ile) c.2287T>A (p.Phe763Ile) c.4342T>A (p.Phe1448Ile) c.4402T>A (p.Phe1468Ile) c.4297T>A (p.Phe1433Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.26467105G>A | CA425359555 | OTOF | c.4356C>T (p.Arg1452=) c.2055C>T (p.Arg685=) c.2115C>T (p.Arg705=) c.2286C>T (p.Arg762=) c.4341C>T (p.Arg1447=) c.4401C>T (p.Arg1467=) c.4296C>T (p.Arg1432=) | |
2 | g.26467105G>C | CA425359556 | OTOF | c.4356C>G (p.Arg1452=) c.2055C>G (p.Arg685=) c.2115C>G (p.Arg705=) c.2286C>G (p.Arg762=) c.4341C>G (p.Arg1447=) c.4401C>G (p.Arg1467=) c.4296C>G (p.Arg1432=) | |
2 | g.26467105G>T | CA425359557 | OTOF | c.4356C>A (p.Arg1452=) c.2055C>A (p.Arg685=) c.2115C>A (p.Arg705=) c.2286C>A (p.Arg762=) c.4341C>A (p.Arg1447=) c.4401C>A (p.Arg1467=) c.4296C>A (p.Arg1432=) | |
2 | g.26467106C>A | CA346136720 | OTOF | c.4355G>T (p.Arg1452Leu) c.2054G>T (p.Arg685Leu) c.2114G>T (p.Arg705Leu) c.2285G>T (p.Arg762Leu) c.4340G>T (p.Arg1447Leu) c.4400G>T (p.Arg1467Leu) c.4295G>T (p.Arg1432Leu) | |
2 | g.26467106C= | CA1239817832 | OTOF | c.4355G= (p.Arg1452=) c.2054G= (p.Arg685=) c.2114G= (p.Arg705=) c.2285G= (p.Arg762=) c.4340G= (p.Arg1447=) c.4400G= (p.Arg1467=) c.4295G= (p.Arg1432=) | |
2 | g.26467106C>G | CA346136722 | OTOF | c.4355G>C (p.Arg1452Pro) c.2054G>C (p.Arg685Pro) c.2114G>C (p.Arg705Pro) c.2285G>C (p.Arg762Pro) c.4340G>C (p.Arg1447Pro) c.4400G>C (p.Arg1467Pro) c.4295G>C (p.Arg1432Pro) | |
2 | g.26467106C>T | CA1563207 | OTOF | c.4355G>A (p.Arg1452His) c.2054G>A (p.Arg685His) c.2114G>A (p.Arg705His) c.2285G>A (p.Arg762His) c.4340G>A (p.Arg1447His) c.4400G>A (p.Arg1467His) c.4295G>A (p.Arg1432His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467107G>A | CA1563208 | OTOF | c.4354C>T (p.Arg1452Cys) c.2053C>T (p.Arg685Cys) c.2113C>T (p.Arg705Cys) c.2284C>T (p.Arg762Cys) c.4339C>T (p.Arg1447Cys) c.4399C>T (p.Arg1467Cys) c.4294C>T (p.Arg1432Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26467107G>C | CA346136724 | OTOF | c.4354C>G (p.Arg1452Gly) c.2053C>G (p.Arg685Gly) c.2113C>G (p.Arg705Gly) c.2284C>G (p.Arg762Gly) c.4339C>G (p.Arg1447Gly) c.4399C>G (p.Arg1467Gly) c.4294C>G (p.Arg1432Gly) | |
2 | g.26467107G= | CA1239817835 | OTOF | c.4354C= (p.Arg1452=) c.2053C= (p.Arg685=) c.2113C= (p.Arg705=) c.2284C= (p.Arg762=) c.4339C= (p.Arg1447=) c.4399C= (p.Arg1467=) c.4294C= (p.Arg1432=) | |
2 | g.26467107G>T | CA44413612 | OTOF | c.4354C>A (p.Arg1452Ser) c.2053C>A (p.Arg685Ser) c.2113C>A (p.Arg705Ser) c.2284C>A (p.Arg762Ser) c.4339C>A (p.Arg1447Ser) c.4399C>A (p.Arg1467Ser) c.4294C>A (p.Arg1432Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467108T>A | CA425359563 | OTOF | c.4353A>T (p.Gly1451=) c.2052A>T (p.Gly684=) c.2112A>T (p.Gly704=) c.2283A>T (p.Gly761=) c.4338A>T (p.Gly1446=) c.4398A>T (p.Gly1466=) c.4293A>T (p.Gly1431=) | |
2 | g.26467108T>C | CA425359564 | OTOF | c.4353A>G (p.Gly1451=) c.2052A>G (p.Gly684=) c.2112A>G (p.Gly704=) c.2283A>G (p.Gly761=) c.4338A>G (p.Gly1446=) c.4398A>G (p.Gly1466=) c.4293A>G (p.Gly1431=) | |
2 | g.26467108T>G | CA425359565 | OTOF | c.4353A>C (p.Gly1451=) c.2052A>C (p.Gly684=) c.2112A>C (p.Gly704=) c.2283A>C (p.Gly761=) c.4338A>C (p.Gly1446=) c.4398A>C (p.Gly1466=) c.4293A>C (p.Gly1431=) | |
2 | g.26467109C>A | CA1563209 | OTOF | c.4352G>T (p.Gly1451Val) c.2051G>T (p.Gly684Val) c.2111G>T (p.Gly704Val) c.2282G>T (p.Gly761Val) c.4337G>T (p.Gly1446Val) c.4397G>T (p.Gly1466Val) c.4292G>T (p.Gly1431Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467109C= | CA1239817838 | OTOF | c.4352G= (p.Gly1451=) c.2051G= (p.Gly684=) c.2111G= (p.Gly704=) c.2282G= (p.Gly761=) c.4337G= (p.Gly1446=) c.4397G= (p.Gly1466=) c.4292G= (p.Gly1431=) | |
2 | g.26467109C>G | CA346136725 | OTOF | c.4352G>C (p.Gly1451Ala) c.2051G>C (p.Gly684Ala) c.2111G>C (p.Gly704Ala) c.2282G>C (p.Gly761Ala) c.4337G>C (p.Gly1446Ala) c.4397G>C (p.Gly1466Ala) c.4292G>C (p.Gly1431Ala) | |
2 | g.26467109C>T | CA346136727 | OTOF | c.4352G>A (p.Gly1451Glu) c.2051G>A (p.Gly684Glu) c.2111G>A (p.Gly704Glu) c.2282G>A (p.Gly761Glu) c.4337G>A (p.Gly1446Glu) c.4397G>A (p.Gly1466Glu) c.4292G>A (p.Gly1431Glu) | |
2 | g.26467110C>A | CA345123 | OTOF | c.4351G>T (p.Gly1451Ter) c.2050G>T (p.Gly684Ter) c.2110G>T (p.Gly704Ter) c.2281G>T (p.Gly761Ter) c.4336G>T (p.Gly1446Ter) c.4396G>T (p.Gly1466Ter) c.4291G>T (p.Gly1431Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.26467110C= | CA1239817843 | OTOF | c.4351G= (p.Gly1451=) c.2050G= (p.Gly684=) c.2110G= (p.Gly704=) c.2281G= (p.Gly761=) c.4336G= (p.Gly1446=) c.4396G= (p.Gly1466=) c.4291G= (p.Gly1431=) | |
2 | g.26467110C>G | CA346136729 | OTOF | c.4351G>C (p.Gly1451Arg) c.2050G>C (p.Gly684Arg) c.2110G>C (p.Gly704Arg) c.2281G>C (p.Gly761Arg) c.4336G>C (p.Gly1446Arg) c.4396G>C (p.Gly1466Arg) c.4291G>C (p.Gly1431Arg) | |
2 | g.26467110C>T | CA346136730 | OTOF | c.4351G>A (p.Gly1451Arg) c.2050G>A (p.Gly684Arg) c.2110G>A (p.Gly704Arg) c.2281G>A (p.Gly761Arg) c.4336G>A (p.Gly1446Arg) c.4396G>A (p.Gly1466Arg) c.4291G>A (p.Gly1431Arg) | gnomAD v4 |
2 | g.26467111C>A | CA425359577 | OTOF | c.4350G>T (p.Val1450=) c.2049G>T (p.Val683=) c.2109G>T (p.Val703=) c.2280G>T (p.Val760=) c.4335G>T (p.Val1445=) c.4395G>T (p.Val1465=) c.4290G>T (p.Val1430=) | |
2 | g.26467111C>G | CA425359576 | OTOF | c.4350G>C (p.Val1450=) c.2049G>C (p.Val683=) c.2109G>C (p.Val703=) c.2280G>C (p.Val760=) c.4335G>C (p.Val1445=) c.4395G>C (p.Val1465=) c.4290G>C (p.Val1430=) | |
2 | g.26467111C>T | CA425359574 | OTOF | c.4350G>A (p.Val1450=) c.2049G>A (p.Val683=) c.2109G>A (p.Val703=) c.2280G>A (p.Val760=) c.4335G>A (p.Val1445=) c.4395G>A (p.Val1465=) c.4290G>A (p.Val1430=) | |
2 | g.26467112A>C | CA346136732 | OTOF | c.4349T>G (p.Val1450Gly) c.2048T>G (p.Val683Gly) c.2108T>G (p.Val703Gly) c.2279T>G (p.Val760Gly) c.4334T>G (p.Val1445Gly) c.4394T>G (p.Val1465Gly) c.4289T>G (p.Val1430Gly) | |
2 | g.26467112A>G | CA346136734 | OTOF | c.4349T>C (p.Val1450Ala) c.2048T>C (p.Val683Ala) c.2108T>C (p.Val703Ala) c.2279T>C (p.Val760Ala) c.4334T>C (p.Val1445Ala) c.4394T>C (p.Val1465Ala) c.4289T>C (p.Val1430Ala) | |
2 | g.26467112A>T | CA346136735 | OTOF | c.4349T>A (p.Val1450Glu) c.2048T>A (p.Val683Glu) c.2108T>A (p.Val703Glu) c.2279T>A (p.Val760Glu) c.4334T>A (p.Val1445Glu) c.4394T>A (p.Val1465Glu) c.4289T>A (p.Val1430Glu) | |
2 | g.26467113C>A | CA346136736 | OTOF | c.4348G>T (p.Val1450Leu) c.2047G>T (p.Val683Leu) c.2107G>T (p.Val703Leu) c.2278G>T (p.Val760Leu) c.4333G>T (p.Val1445Leu) c.4393G>T (p.Val1465Leu) c.4288G>T (p.Val1430Leu) | |
2 | g.26467113C= | CA1239817847 | OTOF | c.4348G= (p.Val1450=) c.2047G= (p.Val683=) c.2107G= (p.Val703=) c.2278G= (p.Val760=) c.4333G= (p.Val1445=) c.4393G= (p.Val1465=) c.4288G= (p.Val1430=) | |
2 | g.26467113C>G | CA346136739 | OTOF | c.4348G>C (p.Val1450Leu) c.2047G>C (p.Val683Leu) c.2107G>C (p.Val703Leu) c.2278G>C (p.Val760Leu) c.4333G>C (p.Val1445Leu) c.4393G>C (p.Val1465Leu) c.4288G>C (p.Val1430Leu) | |
2 | g.26467113C>T | CA346136737 | OTOF | c.4348G>A (p.Val1450Met) c.2047G>A (p.Val683Met) c.2107G>A (p.Val703Met) c.2278G>A (p.Val760Met) c.4333G>A (p.Val1445Met) c.4393G>A (p.Val1465Met) c.4288G>A (p.Val1430Met) | dbSNP |
2 | g.26467114A= | CA1239817853 | OTOF | c.4347T= (p.Ile1449=) c.2046T= (p.Ile682=) c.2106T= (p.Ile702=) c.2277T= (p.Ile759=) c.4332T= (p.Ile1444=) c.4392T= (p.Ile1464=) c.4287T= (p.Ile1429=) | |
2 | g.26467114A>C | CA346136740 | OTOF | c.4347T>G (p.Ile1449Met) c.2046T>G (p.Ile682Met) c.2106T>G (p.Ile702Met) c.2277T>G (p.Ile759Met) c.4332T>G (p.Ile1444Met) c.4392T>G (p.Ile1464Met) c.4287T>G (p.Ile1429Met) | |
2 | g.26467114A>G | CA425359582 | OTOF | c.4347T>C (p.Ile1449=) c.2046T>C (p.Ile682=) c.2106T>C (p.Ile702=) c.2277T>C (p.Ile759=) c.4332T>C (p.Ile1444=) c.4392T>C (p.Ile1464=) c.4287T>C (p.Ile1429=) | |
2 | g.26467114A>T | CA425359583 | OTOF | c.4347T>A (p.Ile1449=) c.2046T>A (p.Ile682=) c.2106T>A (p.Ile702=) c.2277T>A (p.Ile759=) c.4332T>A (p.Ile1444=) c.4392T>A (p.Ile1464=) c.4287T>A (p.Ile1429=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467115A= | CA1239817859 | OTOF | c.4346T= (p.Ile1449=) c.2045T= (p.Ile682=) c.2105T= (p.Ile702=) c.2276T= (p.Ile759=) c.4331T= (p.Ile1444=) c.4391T= (p.Ile1464=) c.4286T= (p.Ile1429=) | |
2 | g.26467115A>C | CA346136742 | OTOF | c.4346T>G (p.Ile1449Ser) c.2045T>G (p.Ile682Ser) c.2105T>G (p.Ile702Ser) c.2276T>G (p.Ile759Ser) c.4331T>G (p.Ile1444Ser) c.4391T>G (p.Ile1464Ser) c.4286T>G (p.Ile1429Ser) | |
2 | g.26467115A>G | CA44413613 | OTOF | c.4346T>C (p.Ile1449Thr) c.2045T>C (p.Ile682Thr) c.2105T>C (p.Ile702Thr) c.2276T>C (p.Ile759Thr) c.4331T>C (p.Ile1444Thr) c.4391T>C (p.Ile1464Thr) c.4286T>C (p.Ile1429Thr) | dbSNP gnomAD v4 |
2 | g.26467115A>T | CA346136744 | OTOF | c.4346T>A (p.Ile1449Asn) c.2045T>A (p.Ile682Asn) c.2105T>A (p.Ile702Asn) c.2276T>A (p.Ile759Asn) c.4331T>A (p.Ile1444Asn) c.4391T>A (p.Ile1464Asn) c.4286T>A (p.Ile1429Asn) | |
2 | g.26467115_26467118dup | CA1239817857 | OTOF | c.4343_4346dup (p.Ile1449MetfsTer?) c.2042_2045dup (p.Ile682MetfsTer?) c.2102_2105dup (p.Ile702MetfsTer?) c.2273_2276dup (p.Ile759MetfsTer?) c.4328_4331dup (p.Ile1444MetfsTer?) c.4388_4391dup (p.Ile1464MetfsTer?) c.4283_4286dup (p.Ile1429MetfsTer?) | dbSNP |
2 | g.26467116T>A | CA346136746 | OTOF | c.4345A>T (p.Ile1449Phe) c.2044A>T (p.Ile682Phe) c.2104A>T (p.Ile702Phe) c.2275A>T (p.Ile759Phe) c.4330A>T (p.Ile1444Phe) c.4390A>T (p.Ile1464Phe) c.4285A>T (p.Ile1429Phe) | |
2 | g.26467116T>C | CA346136748 | OTOF | c.4345A>G (p.Ile1449Val) c.2044A>G (p.Ile682Val) c.2104A>G (p.Ile702Val) c.2275A>G (p.Ile759Val) c.4330A>G (p.Ile1444Val) c.4390A>G (p.Ile1464Val) c.4285A>G (p.Ile1429Val) | dbSNP gnomAD v4 |
2 | g.26467116T>G | CA346136749 | OTOF | c.4345A>C (p.Ile1449Leu) c.2044A>C (p.Ile682Leu) c.2104A>C (p.Ile702Leu) c.2275A>C (p.Ile759Leu) c.4330A>C (p.Ile1444Leu) c.4390A>C (p.Ile1464Leu) c.4285A>C (p.Ile1429Leu) | |
2 | g.26467116T= | CA1239817862 | OTOF | c.4345A= (p.Ile1449=) c.2044A= (p.Ile682=) c.2104A= (p.Ile702=) c.2275A= (p.Ile759=) c.4330A= (p.Ile1444=) c.4390A= (p.Ile1464=) c.4285A= (p.Ile1429=) | |
2 | g.26467117G>A | CA425359586 | OTOF | c.4344C>T (p.Arg1448=) c.2043C>T (p.Arg681=) c.2103C>T (p.Arg701=) c.2274C>T (p.Arg758=) c.4329C>T (p.Arg1443=) c.4389C>T (p.Arg1463=) c.4284C>T (p.Arg1428=) | |
2 | g.26467117G>C | CA425359587 | OTOF | c.4344C>G (p.Arg1448=) c.2043C>G (p.Arg681=) c.2103C>G (p.Arg701=) c.2274C>G (p.Arg758=) c.4329C>G (p.Arg1443=) c.4389C>G (p.Arg1463=) c.4284C>G (p.Arg1428=) | |
2 | g.26467117G>T | CA425359589 | OTOF | c.4344C>A (p.Arg1448=) c.2043C>A (p.Arg681=) c.2103C>A (p.Arg701=) c.2274C>A (p.Arg758=) c.4329C>A (p.Arg1443=) c.4389C>A (p.Arg1463=) c.4284C>A (p.Arg1428=) | |
2 | g.26467118C>A | CA346136750 | OTOF | c.4343G>T (p.Arg1448Leu) c.2042G>T (p.Arg681Leu) c.2102G>T (p.Arg701Leu) c.2273G>T (p.Arg758Leu) c.4328G>T (p.Arg1443Leu) c.4388G>T (p.Arg1463Leu) c.4283G>T (p.Arg1428Leu) | gnomAD v4 |
2 | g.26467118C= | CA1239817868 | OTOF | c.4343G= (p.Arg1448=) c.2042G= (p.Arg681=) c.2102G= (p.Arg701=) c.2273G= (p.Arg758=) c.4328G= (p.Arg1443=) c.4388G= (p.Arg1463=) c.4283G= (p.Arg1428=) | |
2 | g.26467118C>G | CA346136752 | OTOF | c.4343G>C (p.Arg1448Pro) c.2042G>C (p.Arg681Pro) c.2102G>C (p.Arg701Pro) c.2273G>C (p.Arg758Pro) c.4328G>C (p.Arg1443Pro) c.4388G>C (p.Arg1463Pro) c.4283G>C (p.Arg1428Pro) | |
2 | g.26467118C>T | CA1563210 | OTOF | c.4343G>A (p.Arg1448His) c.2042G>A (p.Arg681His) c.2102G>A (p.Arg701His) c.2273G>A (p.Arg758His) c.4328G>A (p.Arg1443His) c.4388G>A (p.Arg1463His) c.4283G>A (p.Arg1428His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467119G>A | CA177545 | OTOF | c.4342C>T (p.Arg1448Cys) c.2041C>T (p.Arg681Cys) c.2101C>T (p.Arg701Cys) c.2272C>T (p.Arg758Cys) c.4327C>T (p.Arg1443Cys) c.4387C>T (p.Arg1463Cys) c.4282C>T (p.Arg1428Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467119G>C | CA346136756 | OTOF | c.4342C>G (p.Arg1448Gly) c.2041C>G (p.Arg681Gly) c.2101C>G (p.Arg701Gly) c.2272C>G (p.Arg758Gly) c.4327C>G (p.Arg1443Gly) c.4387C>G (p.Arg1463Gly) c.4282C>G (p.Arg1428Gly) | |
2 | g.26467119G= | CA1239817873 | OTOF | c.4342C= (p.Arg1448=) c.2041C= (p.Arg681=) c.2101C= (p.Arg701=) c.2272C= (p.Arg758=) c.4327C= (p.Arg1443=) c.4387C= (p.Arg1463=) c.4282C= (p.Arg1428=) | |
2 | g.26467119G>T | CA346136754 | OTOF | c.4342C>A (p.Arg1448Ser) c.2041C>A (p.Arg681Ser) c.2101C>A (p.Arg701Ser) c.2272C>A (p.Arg758Ser) c.4327C>A (p.Arg1443Ser) c.4387C>A (p.Arg1463Ser) c.4282C>A (p.Arg1428Ser) | |
2 | g.26467120C>A | CA1563211 | OTOF | c.4341G>T (p.Glu1447Asp) c.2040G>T (p.Glu680Asp) c.2100G>T (p.Glu700Asp) c.2271G>T (p.Glu757Asp) c.4326G>T (p.Glu1442Asp) c.4386G>T (p.Glu1462Asp) c.4281G>T (p.Glu1427Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467120C= | CA1239817879 | OTOF | c.4341G= (p.Glu1447=) c.2040G= (p.Glu680=) c.2100G= (p.Glu700=) c.2271G= (p.Glu757=) c.4326G= (p.Glu1442=) c.4386G= (p.Glu1462=) c.4281G= (p.Glu1427=) | |
2 | g.26467120C>G | CA346136758 | OTOF | c.4341G>C (p.Glu1447Asp) c.2040G>C (p.Glu680Asp) c.2100G>C (p.Glu700Asp) c.2271G>C (p.Glu757Asp) c.4326G>C (p.Glu1442Asp) c.4386G>C (p.Glu1462Asp) c.4281G>C (p.Glu1427Asp) | |
2 | g.26467120C>T | CA142886 | OTOF | c.4341G>A (p.Glu1447=) c.2040G>A (p.Glu680=) c.2100G>A (p.Glu700=) c.2271G>A (p.Glu757=) c.4326G>A (p.Glu1442=) c.4386G>A (p.Glu1462=) c.4281G>A (p.Glu1427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467121T>A | CA346136763 | OTOF | c.4340A>T (p.Glu1447Val) c.2039A>T (p.Glu680Val) c.2099A>T (p.Glu700Val) c.2270A>T (p.Glu757Val) c.4325A>T (p.Glu1442Val) c.4385A>T (p.Glu1462Val) c.4280A>T (p.Glu1427Val) | |
2 | g.26467121T>C | CA346136765 | OTOF | c.4340A>G (p.Glu1447Gly) c.2039A>G (p.Glu680Gly) c.2099A>G (p.Glu700Gly) c.2270A>G (p.Glu757Gly) c.4325A>G (p.Glu1442Gly) c.4385A>G (p.Glu1462Gly) c.4280A>G (p.Glu1427Gly) | |
2 | g.26467121T>G | CA346136766 | OTOF | c.4340A>C (p.Glu1447Ala) c.2039A>C (p.Glu680Ala) c.2099A>C (p.Glu700Ala) c.2270A>C (p.Glu757Ala) c.4325A>C (p.Glu1442Ala) c.4385A>C (p.Glu1462Ala) c.4280A>C (p.Glu1427Ala) | |
2 | g.26467126_26467143del | CA2523588077 | OTOF | c.4323_4340del (p.Asp1441_Glu1446del) c.2022_2039del (p.Asp674_Glu679del) c.2082_2099del (p.Asp694_Glu699del) c.2253_2270del (p.Asp751_Glu756del) c.4308_4325del (p.Asp1436_Glu1441del) c.4368_4385del (p.Asp1456_Glu1461del) c.4263_4280del (p.Asp1421_Glu1426del) | gnomAD v4 |
2 | g.26467122C>A | CA346136771 | OTOF | c.4339G>T (p.Glu1447Ter) c.2038G>T (p.Glu680Ter) c.2098G>T (p.Glu700Ter) c.2269G>T (p.Glu757Ter) c.4324G>T (p.Glu1442Ter) c.4384G>T (p.Glu1462Ter) c.4279G>T (p.Glu1427Ter) | |
2 | g.26467122C= | CA1239817882 | OTOF | c.4339G= (p.Glu1447=) c.2038G= (p.Glu680=) c.2098G= (p.Glu700=) c.2269G= (p.Glu757=) c.4324G= (p.Glu1442=) c.4384G= (p.Glu1462=) c.4279G= (p.Glu1427=) | |
2 | g.26467122C>G | CA346136769 | OTOF | c.4339G>C (p.Glu1447Gln) c.2038G>C (p.Glu680Gln) c.2098G>C (p.Glu700Gln) c.2269G>C (p.Glu757Gln) c.4324G>C (p.Glu1442Gln) c.4384G>C (p.Glu1462Gln) c.4279G>C (p.Glu1427Gln) | |
2 | g.26467122C>T | CA1563212 | OTOF | c.4339G>A (p.Glu1447Lys) c.2038G>A (p.Glu680Lys) c.2098G>A (p.Glu700Lys) c.2269G>A (p.Glu757Lys) c.4324G>A (p.Glu1442Lys) c.4384G>A (p.Glu1462Lys) c.4279G>A (p.Glu1427Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467123C>A | CA346136772 | OTOF | c.4338G>T (p.Glu1446Asp) c.2037G>T (p.Glu679Asp) c.2097G>T (p.Glu699Asp) c.2268G>T (p.Glu756Asp) c.4323G>T (p.Glu1441Asp) c.4383G>T (p.Glu1461Asp) c.4278G>T (p.Glu1426Asp) | |
2 | g.26467123C= | CA1239817886 | OTOF | c.4338G= (p.Glu1446=) c.2037G= (p.Glu679=) c.2097G= (p.Glu699=) c.2268G= (p.Glu756=) c.4323G= (p.Glu1441=) c.4383G= (p.Glu1461=) c.4278G= (p.Glu1426=) | |
2 | g.26467123C>G | CA346136773 | OTOF | c.4338G>C (p.Glu1446Asp) c.2037G>C (p.Glu679Asp) c.2097G>C (p.Glu699Asp) c.2268G>C (p.Glu756Asp) c.4323G>C (p.Glu1441Asp) c.4383G>C (p.Glu1461Asp) c.4278G>C (p.Glu1426Asp) | gnomAD v4 |
2 | g.26467123C>T | CA1563213 | OTOF | c.4338G>A (p.Glu1446=) c.2037G>A (p.Glu679=) c.2097G>A (p.Glu699=) c.2268G>A (p.Glu756=) c.4323G>A (p.Glu1441=) c.4383G>A (p.Glu1461=) c.4278G>A (p.Glu1426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467124T>A | CA346136776 | OTOF | c.4337A>T (p.Glu1446Val) c.2036A>T (p.Glu679Val) c.2096A>T (p.Glu699Val) c.2267A>T (p.Glu756Val) c.4322A>T (p.Glu1441Val) c.4382A>T (p.Glu1461Val) c.4277A>T (p.Glu1426Val) | |
2 | g.26467124T>C | CA346136778 | OTOF | c.4337A>G (p.Glu1446Gly) c.2036A>G (p.Glu679Gly) c.2096A>G (p.Glu699Gly) c.2267A>G (p.Glu756Gly) c.4322A>G (p.Glu1441Gly) c.4382A>G (p.Glu1461Gly) c.4277A>G (p.Glu1426Gly) | |
2 | g.26467124T>G | CA346136779 | OTOF | c.4337A>C (p.Glu1446Ala) c.2036A>C (p.Glu679Ala) c.2096A>C (p.Glu699Ala) c.2267A>C (p.Glu756Ala) c.4322A>C (p.Glu1441Ala) c.4382A>C (p.Glu1461Ala) c.4277A>C (p.Glu1426Ala) | |
2 | g.26467125C>A | CA346136780 | OTOF | c.4336G>T (p.Glu1446Ter) c.2035G>T (p.Glu679Ter) c.2095G>T (p.Glu699Ter) c.2266G>T (p.Glu756Ter) c.4321G>T (p.Glu1441Ter) c.4381G>T (p.Glu1461Ter) c.4276G>T (p.Glu1426Ter) | COSMIC COSMIC COSMIC |
2 | g.26467125C>G | CA346136783 | OTOF | c.4336G>C (p.Glu1446Gln) c.2035G>C (p.Glu679Gln) c.2095G>C (p.Glu699Gln) c.2266G>C (p.Glu756Gln) c.4321G>C (p.Glu1441Gln) c.4381G>C (p.Glu1461Gln) c.4276G>C (p.Glu1426Gln) | |
2 | g.26467125C>T | CA346136781 | OTOF | c.4336G>A (p.Glu1446Lys) c.2035G>A (p.Glu679Lys) c.2095G>A (p.Glu699Lys) c.2266G>A (p.Glu756Lys) c.4321G>A (p.Glu1441Lys) c.4381G>A (p.Glu1461Lys) c.4276G>A (p.Glu1426Lys) | |
2 | g.26467126C>A | CA346136784 | OTOF | c.4335G>T (p.Glu1445Asp) c.2034G>T (p.Glu678Asp) c.2094G>T (p.Glu698Asp) c.2265G>T (p.Glu755Asp) c.4320G>T (p.Glu1440Asp) c.4380G>T (p.Glu1460Asp) c.4275G>T (p.Glu1425Asp) | |
2 | g.26467126C>G | CA346136785 | OTOF | c.4335G>C (p.Glu1445Asp) c.2034G>C (p.Glu678Asp) c.2094G>C (p.Glu698Asp) c.2265G>C (p.Glu755Asp) c.4320G>C (p.Glu1440Asp) c.4380G>C (p.Glu1460Asp) c.4275G>C (p.Glu1425Asp) | |
2 | g.26467126C>T | CA425359603 | OTOF | c.4335G>A (p.Glu1445=) c.2034G>A (p.Glu678=) c.2094G>A (p.Glu698=) c.2265G>A (p.Glu755=) c.4320G>A (p.Glu1440=) c.4380G>A (p.Glu1460=) c.4275G>A (p.Glu1425=) | gnomAD v4 |
2 | g.26467127T>A | CA346136788 | OTOF | c.4334A>T (p.Glu1445Val) c.2033A>T (p.Glu678Val) c.2093A>T (p.Glu698Val) c.2264A>T (p.Glu755Val) c.4319A>T (p.Glu1440Val) c.4379A>T (p.Glu1460Val) c.4274A>T (p.Glu1425Val) | |
2 | g.26467127T>C | CA346136789 | OTOF | c.4334A>G (p.Glu1445Gly) c.2033A>G (p.Glu678Gly) c.2093A>G (p.Glu698Gly) c.2264A>G (p.Glu755Gly) c.4319A>G (p.Glu1440Gly) c.4379A>G (p.Glu1460Gly) c.4274A>G (p.Glu1425Gly) | ClinVar dbSNP |
2 | g.26467127T>G | CA346136792 | OTOF | c.4334A>C (p.Glu1445Ala) c.2033A>C (p.Glu678Ala) c.2093A>C (p.Glu698Ala) c.2264A>C (p.Glu755Ala) c.4319A>C (p.Glu1440Ala) c.4379A>C (p.Glu1460Ala) c.4274A>C (p.Glu1425Ala) | |
2 | g.26467127T= | CA1239817892 | OTOF | c.4334A= (p.Glu1445=) c.2033A= (p.Glu678=) c.2093A= (p.Glu698=) c.2264A= (p.Glu755=) c.4319A= (p.Glu1440=) c.4379A= (p.Glu1460=) c.4274A= (p.Glu1425=) | |
2 | g.26467128C>A | CA346136794 | OTOF | c.4333G>T (p.Glu1445Ter) c.2032G>T (p.Glu678Ter) c.2092G>T (p.Glu698Ter) c.2263G>T (p.Glu755Ter) c.4318G>T (p.Glu1440Ter) c.4378G>T (p.Glu1460Ter) c.4273G>T (p.Glu1425Ter) | |
2 | g.26467128C= | CA1239817900 | OTOF | c.4333G= (p.Glu1445=) c.2032G= (p.Glu678=) c.2092G= (p.Glu698=) c.2263G= (p.Glu755=) c.4318G= (p.Glu1440=) c.4378G= (p.Glu1460=) c.4273G= (p.Glu1425=) | |
2 | g.26467128C>G | CA346136797 | OTOF | c.4333G>C (p.Glu1445Gln) c.2032G>C (p.Glu678Gln) c.2092G>C (p.Glu698Gln) c.2263G>C (p.Glu755Gln) c.4318G>C (p.Glu1440Gln) c.4378G>C (p.Glu1460Gln) c.4273G>C (p.Glu1425Gln) | |
2 | g.26467128C>T | CA1563214 | OTOF | c.4333G>A (p.Glu1445Lys) c.2032G>A (p.Glu678Lys) c.2092G>A (p.Glu698Lys) c.2263G>A (p.Glu755Lys) c.4318G>A (p.Glu1440Lys) c.4378G>A (p.Glu1460Lys) c.4273G>A (p.Glu1425Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467128_26467131delinsCGGT | CA1239817899 | OTOF | c.4330_4333delinsACCG (p.Thr1444=) c.2029_2032delinsACCG (p.Thr677=) c.2089_2092delinsACCG (p.Thr697=) c.2260_2263delinsACCG (p.Thr754=) c.4315_4318delinsACCG (p.Thr1439=) c.4375_4378delinsACCG (p.Thr1459=) c.4270_4273delinsACCG (p.Thr1424=) | |
2 | g.26467129G>A | CA142884 | OTOF | c.4332C>T (p.Thr1444=) c.2031C>T (p.Thr677=) c.2091C>T (p.Thr697=) c.2262C>T (p.Thr754=) c.4317C>T (p.Thr1439=) c.4377C>T (p.Thr1459=) c.4272C>T (p.Thr1424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467129G>C | CA425359610 | OTOF | c.4332C>G (p.Thr1444=) c.2031C>G (p.Thr677=) c.2091C>G (p.Thr697=) c.2262C>G (p.Thr754=) c.4317C>G (p.Thr1439=) c.4377C>G (p.Thr1459=) c.4272C>G (p.Thr1424=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467129G= | CA1239817907 | OTOF | c.4332C= (p.Thr1444=) c.2031C= (p.Thr677=) c.2091C= (p.Thr697=) c.2262C= (p.Thr754=) c.4317C= (p.Thr1439=) c.4377C= (p.Thr1459=) c.4272C= (p.Thr1424=) | |
2 | g.26467129G>T | CA1563216 | OTOF | c.4332C>A (p.Thr1444=) c.2031C>A (p.Thr677=) c.2091C>A (p.Thr697=) c.2262C>A (p.Thr754=) c.4317C>A (p.Thr1439=) c.4377C>A (p.Thr1459=) c.4272C>A (p.Thr1424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467131_26467133del | CA1563215 | OTOF | c.4330_4332del (p.Thr1444del) c.2029_2031del (p.Thr677del) c.2089_2091del (p.Thr697del) c.2260_2262del (p.Thr754del) c.4315_4317del (p.Thr1439del) c.4375_4377del (p.Thr1459del) c.4270_4272del (p.Thr1424del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26467130G>A | CA346136801 | OTOF | c.4331C>T (p.Thr1444Ile) c.2030C>T (p.Thr677Ile) c.2090C>T (p.Thr697Ile) c.2261C>T (p.Thr754Ile) c.4316C>T (p.Thr1439Ile) c.4376C>T (p.Thr1459Ile) c.4271C>T (p.Thr1424Ile) | dbSNP |
2 | g.26467130G>C | CA346136803 | OTOF | c.4331C>G (p.Thr1444Ser) c.2030C>G (p.Thr677Ser) c.2090C>G (p.Thr697Ser) c.2261C>G (p.Thr754Ser) c.4316C>G (p.Thr1439Ser) c.4376C>G (p.Thr1459Ser) c.4271C>G (p.Thr1424Ser) | |
2 | g.26467130G= | CA1239817911 | OTOF | c.4331C= (p.Thr1444=) c.2030C= (p.Thr677=) c.2090C= (p.Thr697=) c.2261C= (p.Thr754=) c.4316C= (p.Thr1439=) c.4376C= (p.Thr1459=) c.4271C= (p.Thr1424=) | |
2 | g.26467130G>T | CA346136800 | OTOF | c.4331C>A (p.Thr1444Asn) c.2030C>A (p.Thr677Asn) c.2090C>A (p.Thr697Asn) c.2261C>A (p.Thr754Asn) c.4316C>A (p.Thr1439Asn) c.4376C>A (p.Thr1459Asn) c.4271C>A (p.Thr1424Asn) | dbSNP |
2 | g.26467131T>A | CA346136805 | OTOF | c.4330A>T (p.Thr1444Ser) c.2029A>T (p.Thr677Ser) c.2089A>T (p.Thr697Ser) c.2260A>T (p.Thr754Ser) c.4315A>T (p.Thr1439Ser) c.4375A>T (p.Thr1459Ser) c.4270A>T (p.Thr1424Ser) | |
2 | g.26467131T>C | CA346136808 | OTOF | c.4330A>G (p.Thr1444Ala) c.2029A>G (p.Thr677Ala) c.2089A>G (p.Thr697Ala) c.2260A>G (p.Thr754Ala) c.4315A>G (p.Thr1439Ala) c.4375A>G (p.Thr1459Ala) c.4270A>G (p.Thr1424Ala) | |
2 | g.26467131T>G | CA346136807 | OTOF | c.4330A>C (p.Thr1444Pro) c.2029A>C (p.Thr677Pro) c.2089A>C (p.Thr697Pro) c.2260A>C (p.Thr754Pro) c.4315A>C (p.Thr1439Pro) c.4375A>C (p.Thr1459Pro) c.4270A>C (p.Thr1424Pro) | |
2 | g.26467132G>A | CA425359617 | OTOF | c.4329C>T (p.Ser1443=) c.2028C>T (p.Ser676=) c.2088C>T (p.Ser696=) c.2259C>T (p.Ser753=) c.4314C>T (p.Ser1438=) c.4374C>T (p.Ser1458=) c.4269C>T (p.Ser1423=) | |
2 | g.26467132G>C | CA425359614 | OTOF | c.4329C>G (p.Ser1443=) c.2028C>G (p.Ser676=) c.2088C>G (p.Ser696=) c.2259C>G (p.Ser753=) c.4314C>G (p.Ser1438=) c.4374C>G (p.Ser1458=) c.4269C>G (p.Ser1423=) | |
2 | g.26467132G>T | CA425359615 | OTOF | c.4329C>A (p.Ser1443=) c.2028C>A (p.Ser676=) c.2088C>A (p.Ser696=) c.2259C>A (p.Ser753=) c.4314C>A (p.Ser1438=) c.4374C>A (p.Ser1458=) c.4269C>A (p.Ser1423=) | |
2 | g.26467133G>A | CA1563217 | OTOF | c.4328C>T (p.Ser1443Phe) c.2027C>T (p.Ser676Phe) c.2087C>T (p.Ser696Phe) c.2258C>T (p.Ser753Phe) c.4313C>T (p.Ser1438Phe) c.4373C>T (p.Ser1458Phe) c.4268C>T (p.Ser1423Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467133G>C | CA346136812 | OTOF | c.4328C>G (p.Ser1443Cys) c.2027C>G (p.Ser676Cys) c.2087C>G (p.Ser696Cys) c.2258C>G (p.Ser753Cys) c.4313C>G (p.Ser1438Cys) c.4373C>G (p.Ser1458Cys) c.4268C>G (p.Ser1423Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467133G= | CA1239817916 | OTOF | c.4328C= (p.Ser1443=) c.2027C= (p.Ser676=) c.2087C= (p.Ser696=) c.2258C= (p.Ser753=) c.4313C= (p.Ser1438=) c.4373C= (p.Ser1458=) c.4268C= (p.Ser1423=) | |
2 | g.26467133G>T | CA346136810 | OTOF | c.4328C>A (p.Ser1443Tyr) c.2027C>A (p.Ser676Tyr) c.2087C>A (p.Ser696Tyr) c.2258C>A (p.Ser753Tyr) c.4313C>A (p.Ser1438Tyr) c.4373C>A (p.Ser1458Tyr) c.4268C>A (p.Ser1423Tyr) | |
2 | g.26467134A>C | CA346136813 | OTOF | c.4327T>G (p.Ser1443Ala) c.2026T>G (p.Ser676Ala) c.2086T>G (p.Ser696Ala) c.2257T>G (p.Ser753Ala) c.4312T>G (p.Ser1438Ala) c.4372T>G (p.Ser1458Ala) c.4267T>G (p.Ser1423Ala) | |
2 | g.26467134A>G | CA346136815 | OTOF | c.4327T>C (p.Ser1443Pro) c.2026T>C (p.Ser676Pro) c.2086T>C (p.Ser696Pro) c.2257T>C (p.Ser753Pro) c.4312T>C (p.Ser1438Pro) c.4372T>C (p.Ser1458Pro) c.4267T>C (p.Ser1423Pro) | |
2 | g.26467134A>T | CA346136816 | OTOF | c.4327T>A (p.Ser1443Thr) c.2026T>A (p.Ser676Thr) c.2086T>A (p.Ser696Thr) c.2257T>A (p.Ser753Thr) c.4312T>A (p.Ser1438Thr) c.4372T>A (p.Ser1458Thr) c.4267T>A (p.Ser1423Thr) | |
2 | g.26467135G>A | CA425359621 | OTOF | c.4326C>T (p.Gly1442=) c.2025C>T (p.Gly675=) c.2085C>T (p.Gly695=) c.2256C>T (p.Gly752=) c.4311C>T (p.Gly1437=) c.4371C>T (p.Gly1457=) c.4266C>T (p.Gly1422=) | |
2 | g.26467135G>C | CA425359622 | OTOF | c.4326C>G (p.Gly1442=) c.2025C>G (p.Gly675=) c.2085C>G (p.Gly695=) c.2256C>G (p.Gly752=) c.4311C>G (p.Gly1437=) c.4371C>G (p.Gly1457=) c.4266C>G (p.Gly1422=) | |
2 | g.26467135G>T | CA425359623 | OTOF | c.4326C>A (p.Gly1442=) c.2025C>A (p.Gly675=) c.2085C>A (p.Gly695=) c.2256C>A (p.Gly752=) c.4311C>A (p.Gly1437=) c.4371C>A (p.Gly1457=) c.4266C>A (p.Gly1422=) | gnomAD v4 |
2 | g.26467136C>A | CA346136817 | OTOF | c.4325G>T (p.Gly1442Val) c.2024G>T (p.Gly675Val) c.2084G>T (p.Gly695Val) c.2255G>T (p.Gly752Val) c.4310G>T (p.Gly1437Val) c.4370G>T (p.Gly1457Val) c.4265G>T (p.Gly1422Val) | gnomAD v4 |
2 | g.26467136C>G | CA346136819 | OTOF | c.4325G>C (p.Gly1442Ala) c.2024G>C (p.Gly675Ala) c.2084G>C (p.Gly695Ala) c.2255G>C (p.Gly752Ala) c.4310G>C (p.Gly1437Ala) c.4370G>C (p.Gly1457Ala) c.4265G>C (p.Gly1422Ala) | |
2 | g.26467136C>T | CA346136821 | OTOF | c.4325G>A (p.Gly1442Asp) c.2024G>A (p.Gly675Asp) c.2084G>A (p.Gly695Asp) c.2255G>A (p.Gly752Asp) c.4310G>A (p.Gly1437Asp) c.4370G>A (p.Gly1457Asp) c.4265G>A (p.Gly1422Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26467137C>A | CA346136822 | OTOF | c.4324G>T (p.Gly1442Cys) c.2023G>T (p.Gly675Cys) c.2083G>T (p.Gly695Cys) c.2254G>T (p.Gly752Cys) c.4309G>T (p.Gly1437Cys) c.4369G>T (p.Gly1457Cys) c.4264G>T (p.Gly1422Cys) | |
2 | g.26467137C= | CA1239817921 | OTOF | c.4324G= (p.Gly1442=) c.2023G= (p.Gly675=) c.2083G= (p.Gly695=) c.2254G= (p.Gly752=) c.4309G= (p.Gly1437=) c.4369G= (p.Gly1457=) c.4264G= (p.Gly1422=) | |
2 | g.26467137C>G | CA346136823 | OTOF | c.4324G>C (p.Gly1442Arg) c.2023G>C (p.Gly675Arg) c.2083G>C (p.Gly695Arg) c.2254G>C (p.Gly752Arg) c.4309G>C (p.Gly1437Arg) c.4369G>C (p.Gly1457Arg) c.4264G>C (p.Gly1422Arg) | |
2 | g.26467137C>T | CA1563218 | OTOF | c.4324G>A (p.Gly1442Ser) c.2023G>A (p.Gly675Ser) c.2083G>A (p.Gly695Ser) c.2254G>A (p.Gly752Ser) c.4309G>A (p.Gly1437Ser) c.4369G>A (p.Gly1457Ser) c.4264G>A (p.Gly1422Ser) | ClinVar dbSNP ExAC |
2 | g.26467137_26467144dup | CA2576699117 | OTOF | c.4317_4324dup (p.Gly1442ValfsTer?) c.2016_2023dup (p.Gly675ValfsTer?) c.2076_2083dup (p.Gly695ValfsTer?) c.2247_2254dup (p.Gly752ValfsTer?) c.4302_4309dup (p.Gly1437ValfsTer?) c.4362_4369dup (p.Gly1457ValfsTer?) c.4257_4264dup (p.Gly1422ValfsTer?) | |
2 | g.26467137_26467138insGCTGATGACGGCGTGGTATTCCTGCACGTCAGTTGATTCTGCCGCCATGAGTGCTTTGAGGGCGGCGCGGCGCTCTTCGAGGGTGCGCTCACCTGCGTTGTGCTCACCGGCGCTGCATTCGTTAGGGTT | CA2511824366 | OTOF | c.4323_4324insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1441_Gly1442insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2022_2023insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp674_Gly675insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2082_2083insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp694_Gly695insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.2253_2254insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp751_Gly752insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4308_4309insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1436_Gly1437insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4368_4369insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1456_Gly1457insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) c.4263_4264insAACCCTAACGAATGCAGCGCCGGTGAGCACAACGCAGGTGAGCGCACCCTCGAAGAGCGCCGCGCCGCCCTCAAAGCACTCATGGCGGCAGAATCAACTGACGTGCAGGAATACCACGCCGTCATCAGC (p.Asp1421_Gly1422insAsnProAsnGluCysSerAlaGlyGluHisAsnAlaGlyGluArgThrLeuGluGluArgArgAlaAlaLeuLysAlaLeuMetAlaAlaGluSerThrAspValGlnGluTyrHisAlaValIleSer) | |
2 | g.26467138A>C | CA346136825 | OTOF | c.4323T>G (p.Asp1441Glu) c.2022T>G (p.Asp674Glu) c.2082T>G (p.Asp694Glu) c.2253T>G (p.Asp751Glu) c.4308T>G (p.Asp1436Glu) c.4368T>G (p.Asp1456Glu) c.4263T>G (p.Asp1421Glu) | gnomAD v4 |
2 | g.26467138A>G | CA425359625 | OTOF | c.4323T>C (p.Asp1441=) c.2022T>C (p.Asp674=) c.2082T>C (p.Asp694=) c.2253T>C (p.Asp751=) c.4308T>C (p.Asp1436=) c.4368T>C (p.Asp1456=) c.4263T>C (p.Asp1421=) | |
2 | g.26467138A>T | CA346136827 | OTOF | c.4323T>A (p.Asp1441Glu) c.2022T>A (p.Asp674Glu) c.2082T>A (p.Asp694Glu) c.2253T>A (p.Asp751Glu) c.4308T>A (p.Asp1436Glu) c.4368T>A (p.Asp1456Glu) c.4263T>A (p.Asp1421Glu) | |
2 | g.26467139T>A | CA44413664 | OTOF | c.4322A>T (p.Asp1441Val) c.2021A>T (p.Asp674Val) c.2081A>T (p.Asp694Val) c.2252A>T (p.Asp751Val) c.4307A>T (p.Asp1436Val) c.4367A>T (p.Asp1456Val) c.4262A>T (p.Asp1421Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467139T>C | CA346136829 | OTOF | c.4322A>G (p.Asp1441Gly) c.2021A>G (p.Asp674Gly) c.2081A>G (p.Asp694Gly) c.2252A>G (p.Asp751Gly) c.4307A>G (p.Asp1436Gly) c.4367A>G (p.Asp1456Gly) c.4262A>G (p.Asp1421Gly) | gnomAD v4 |
2 | g.26467139T>G | CA346136830 | OTOF | c.4322A>C (p.Asp1441Ala) c.2021A>C (p.Asp674Ala) c.2081A>C (p.Asp694Ala) c.2252A>C (p.Asp751Ala) c.4307A>C (p.Asp1436Ala) c.4367A>C (p.Asp1456Ala) c.4262A>C (p.Asp1421Ala) | |
2 | g.26467139T= | CA1239817925 | OTOF | c.4322A= (p.Asp1441=) c.2021A= (p.Asp674=) c.2081A= (p.Asp694=) c.2252A= (p.Asp751=) c.4307A= (p.Asp1436=) c.4367A= (p.Asp1456=) c.4262A= (p.Asp1421=) | |
2 | g.26467140C>A | CA346136833 | OTOF | c.4321G>T (p.Asp1441Tyr) c.2020G>T (p.Asp674Tyr) c.2080G>T (p.Asp694Tyr) c.2251G>T (p.Asp751Tyr) c.4306G>T (p.Asp1436Tyr) c.4366G>T (p.Asp1456Tyr) c.4261G>T (p.Asp1421Tyr) | |
2 | g.26467140C= | CA1239817929 | OTOF | c.4321G= (p.Asp1441=) c.2020G= (p.Asp674=) c.2080G= (p.Asp694=) c.2251G= (p.Asp751=) c.4306G= (p.Asp1436=) c.4366G= (p.Asp1456=) c.4261G= (p.Asp1421=) | |
2 | g.26467140C>G | CA346136834 | OTOF | c.4321G>C (p.Asp1441His) c.2020G>C (p.Asp674His) c.2080G>C (p.Asp694His) c.2251G>C (p.Asp751His) c.4306G>C (p.Asp1436His) c.4366G>C (p.Asp1456His) c.4261G>C (p.Asp1421His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26467140C>T | CA346136835 | OTOF | c.4321G>A (p.Asp1441Asn) c.2020G>A (p.Asp674Asn) c.2080G>A (p.Asp694Asn) c.2251G>A (p.Asp751Asn) c.4306G>A (p.Asp1436Asn) c.4366G>A (p.Asp1456Asn) c.4261G>A (p.Asp1421Asn) | |
2 | g.26467141C>A | CA346136836 | OTOF | c.4320G>T (p.Glu1440Asp) c.2019G>T (p.Glu673Asp) c.2079G>T (p.Glu693Asp) c.2250G>T (p.Glu750Asp) c.4305G>T (p.Glu1435Asp) c.4365G>T (p.Glu1455Asp) c.4260G>T (p.Glu1420Asp) | |
2 | g.26467141C= | CA1239817933 | OTOF | c.4320G= (p.Glu1440=) c.2019G= (p.Glu673=) c.2079G= (p.Glu693=) c.2250G= (p.Glu750=) c.4305G= (p.Glu1435=) c.4365G= (p.Glu1455=) c.4260G= (p.Glu1420=) | |
2 | g.26467141C>G | CA44413668 | OTOF | c.4320G>C (p.Glu1440Asp) c.2019G>C (p.Glu673Asp) c.2079G>C (p.Glu693Asp) c.2250G>C (p.Glu750Asp) c.4305G>C (p.Glu1435Asp) c.4365G>C (p.Glu1455Asp) c.4260G>C (p.Glu1420Asp) | dbSNP gnomAD v4 |
2 | g.26467141C>T | CA425359631 | OTOF | c.4320G>A (p.Glu1440=) c.2019G>A (p.Glu673=) c.2079G>A (p.Glu693=) c.2250G>A (p.Glu750=) c.4305G>A (p.Glu1435=) c.4365G>A (p.Glu1455=) c.4260G>A (p.Glu1420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26467142T>A | CA346136837 | OTOF | c.4319A>T (p.Glu1440Val) c.2018A>T (p.Glu673Val) c.2078A>T (p.Glu693Val) c.2249A>T (p.Glu750Val) c.4304A>T (p.Glu1435Val) c.4364A>T (p.Glu1455Val) c.4259A>T (p.Glu1420Val) | |
2 | g.26467142T>C | CA346136838 | OTOF | c.4319A>G (p.Glu1440Gly) c.2018A>G (p.Glu673Gly) c.2078A>G (p.Glu693Gly) c.2249A>G (p.Glu750Gly) c.4304A>G (p.Glu1435Gly) c.4364A>G (p.Glu1455Gly) c.4259A>G (p.Glu1420Gly) | COSMIC COSMIC COSMIC |
2 | g.26467142T>G | CA346136839 | OTOF | c.4319A>C (p.Glu1440Ala) c.2018A>C (p.Glu673Ala) c.2078A>C (p.Glu693Ala) c.2249A>C (p.Glu750Ala) c.4304A>C (p.Glu1435Ala) c.4364A>C (p.Glu1455Ala) c.4259A>C (p.Glu1420Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26467142T= | CA1239817935 | OTOF | c.4319A= (p.Glu1440=) c.2018A= (p.Glu673=) c.2078A= (p.Glu693=) c.2249A= (p.Glu750=) c.4304A= (p.Glu1435=) c.4364A= (p.Glu1455=) c.4259A= (p.Glu1420=) | |
2 | g.26467143C>A | CA346136840 | OTOF | c.4318G>T (p.Glu1440Ter) c.2017G>T (p.Glu673Ter) c.2077G>T (p.Glu693Ter) c.2248G>T (p.Glu750Ter) c.4303G>T (p.Glu1435Ter) c.4363G>T (p.Glu1455Ter) c.4258G>T (p.Glu1420Ter) | |
2 | g.26467143C>G | CA346136841 | OTOF | c.4318G>C (p.Glu1440Gln) c.2017G>C (p.Glu673Gln) c.2077G>C (p.Glu693Gln) c.2248G>C (p.Glu750Gln) c.4303G>C (p.Glu1435Gln) c.4363G>C (p.Glu1455Gln) c.4258G>C (p.Glu1420Gln) | |
2 | g.26467143C>T | CA346136843 | OTOF | c.4318G>A (p.Glu1440Lys) c.2017G>A (p.Glu673Lys) c.2077G>A (p.Glu693Lys) c.2248G>A (p.Glu750Lys) c.4303G>A (p.Glu1435Lys) c.4363G>A (p.Glu1455Lys) c.4258G>A (p.Glu1420Lys) | gnomAD v4 |
2 | g.26467144A>C | CA346136846 | OTOF | c.4317T>G (p.Asp1439Glu) c.2016T>G (p.Asp672Glu) c.2076T>G (p.Asp692Glu) c.2247T>G (p.Asp749Glu) c.4302T>G (p.Asp1434Glu) c.4362T>G (p.Asp1454Glu) c.4257T>G (p.Asp1419Glu) | |
2 | g.26467144A>G | CA425359635 | OTOF | c.4317T>C (p.Asp1439=) c.2016T>C (p.Asp672=) c.2076T>C (p.Asp692=) c.2247T>C (p.Asp749=) c.4302T>C (p.Asp1434=) c.4362T>C (p.Asp1454=) c.4257T>C (p.Asp1419=) | |
2 | g.26467144A>T | CA346136845 | OTOF | c.4317T>A (p.Asp1439Glu) c.2016T>A (p.Asp672Glu) c.2076T>A (p.Asp692Glu) c.2247T>A (p.Asp749Glu) c.4302T>A (p.Asp1434Glu) c.4362T>A (p.Asp1454Glu) c.4257T>A (p.Asp1419Glu) | |
2 | g.26467145T>A | CA346136848 | OTOF | c.4316A>T (p.Asp1439Val) c.2015A>T (p.Asp672Val) c.2075A>T (p.Asp692Val) c.2246A>T (p.Asp749Val) c.4301A>T (p.Asp1434Val) c.4361A>T (p.Asp1454Val) c.4256A>T (p.Asp1419Val) | |
2 | g.26467145T>C | CA346136849 | OTOF | c.4316A>G (p.Asp1439Gly) c.2015A>G (p.Asp672Gly) c.2075A>G (p.Asp692Gly) c.2246A>G (p.Asp749Gly) c.4301A>G (p.Asp1434Gly) c.4361A>G (p.Asp1454Gly) c.4256A>G (p.Asp1419Gly) | |
2 | g.26467145T>G | CA346136850 | OTOF | c.4316A>C (p.Asp1439Ala) c.2015A>C (p.Asp672Ala) c.2075A>C (p.Asp692Ala) c.2246A>C (p.Asp749Ala) c.4301A>C (p.Asp1434Ala) c.4361A>C (p.Asp1454Ala) c.4256A>C (p.Asp1419Ala) | |
2 | g.26467146C>A | CA346136852 | OTOF | c.4315G>T (p.Asp1439Tyr) c.2014G>T (p.Asp672Tyr) c.2074G>T (p.Asp692Tyr) c.2245G>T (p.Asp749Tyr) c.4300G>T (p.Asp1434Tyr) c.4360G>T (p.Asp1454Tyr) c.4255G>T (p.Asp1419Tyr) | |
2 | g.26467146C>G | CA346136854 | OTOF | c.4315G>C (p.Asp1439His) c.2014G>C (p.Asp672His) c.2074G>C (p.Asp692His) c.2245G>C (p.Asp749His) c.4300G>C (p.Asp1434His) c.4360G>C (p.Asp1454His) c.4255G>C (p.Asp1419His) | |
2 | g.26467146C>T | CA346136856 | OTOF | c.4315G>A (p.Asp1439Asn) c.2014G>A (p.Asp672Asn) c.2074G>A (p.Asp692Asn) c.2245G>A (p.Asp749Asn) c.4300G>A (p.Asp1434Asn) c.4360G>A (p.Asp1454Asn) c.4255G>A (p.Asp1419Asn) |