Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26467044_26467050delinsTGGGGGGCA1239817765OTOFc.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)
2g.26467051_26467052insACCCGGGGGGGGGGCA2658234786OTOFc.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
2g.26467051_26467052insACCCTGGGGGGGGGCA2658234785OTOFc.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
2g.26467052_26467053insGTGGGGGGGGGACCCTGGGGGGGGGGCA2658234787OTOFc.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
2g.26467052dupCA425359531OTOFc.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
2g.26467051_26467052dupCA2542351042OTOFc.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
2g.26467052delCA44413463OTOFc.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
2g.26467051_26467052delCA1239817772OTOFc.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
2g.26467050_26467052delCA2658234783OTOFc.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
2g.26467047_26467052delCA1239817774OTOFc.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
2g.26467048G>ACA1563194OTOFc.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
2g.26467048G>CCA1563192OTOFc.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
2g.26467048G=CA1239817782OTOFc.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=)
2g.26467048G>TCA1563193OTOFc.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
2g.26467049G>ACA1563195OTOFc.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
2g.26467049G=CA1239817784OTOFc.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=)
2g.26467049G>TCA2658234788OTOFc.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
2g.26467050G>ACA1563196OTOFc.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
2g.26467050G>CCA767269948OTOFc.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
2g.26467050G=CA1239817787OTOFc.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=)
2g.26467050G>TCA531761711OTOFc.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
2g.26467051G>ACA2576699100OTOFc.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
2g.26467051G>CCA44413536OTOFc.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
2g.26467051G=CA1239817789OTOFc.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=)
2g.26467051G>TCA2658234789OTOFc.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
2g.26467052G>ACA1563197OTOFc.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
2g.26467052G>CCA531761712OTOFc.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
2g.26467052G=CA1239817790OTOFc.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=)
2g.26467052G>TCA2658234790OTOFc.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
2g.26467052_26467053insGCCA2658234792OTOFc.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
2g.26467053delCA2658234793OTOFc.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
2g.26467053C=CA1239817792OTOFc.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=)
2g.26467053C>TCA531761714OTOFc.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
2g.26467053_26467054insGGGGGGGACCCGGGGGGGGGGCCCA2658234791OTOFc.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
2g.26467053dupCA531761713OTOFc.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
2g.26467054A=CA1239817794OTOFc.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=)
2g.26467054A>GCA1563198OTOFc.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
2g.26467055A=CA1239817795OTOFc.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=)
2g.26467055A>CCA2504001037OTOFc.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
2g.26467055A>GCA1239817796OTOFc.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
2g.26467056G>ACA531761715OTOFc.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
2g.26467056G=CA1239817798OTOFc.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=)
2g.26467056G>TCA2658234794OTOFc.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
2g.26467057G>TCA2658234795OTOFc.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
2g.26467058G>ACA2658234796OTOFc.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
2g.26467058G>CCA531761716OTOFc.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
2g.26467058G=CA1239817799OTOFc.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=)
2g.26467059C=CA1239817801OTOFc.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=)
2g.26467059C>TCA1563199OTOFc.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
2g.26467060T>GCA2658234797OTOFc.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
2g.26467061G>ACA44413552OTOFc.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
2g.26467061G=CA1239817802OTOFc.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=)
2g.26467062G>CCA2658234798OTOFc.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
2g.26467062G>TCA2658234799OTOFc.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
2g.26467063C>ACA44413566OTOFc.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
2g.26467063C=CA1239817804OTOFc.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=)
2g.26467063C>TCA1563200OTOFc.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
2g.26467064G>ACA1563201OTOFc.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
2g.26467064G=CA1239817806OTOFc.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=)
2g.26467064G>TCA2658234800OTOFc.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
2g.26467065G>ACA767269977OTOFc.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
2g.26467065G=CA1239817808OTOFc.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=)
2g.26467066G>ACA1563202OTOFc.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
2g.26467066G=CA1239817809OTOFc.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=)
2g.26467066G>TCA2658234801OTOFc.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
2g.26467067T>ACA1563204OTOFc.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
2g.26467067T>GCA1563203OTOFc.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
2g.26467067T=CA1239817811OTOFc.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=)
2g.26467068G>ACA2658234802OTOFc.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
2g.26467068G>TCA2658234803OTOFc.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
2g.26467069C>TCA2576699108OTOFc.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)
2g.26467071C>GCA2658234804OTOFc.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
2g.26467073G>ACA531761718OTOFc.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
2g.26467073G=CA1239817812OTOFc.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=)
2g.26467074_26467075insAGATCA2556433613OTOFc.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)
2g.26467075C>TCA2658234806OTOFc.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
2g.26467078_26467096dupCA2658234805OTOFc.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
2g.26467075_26467076insGGAAGAGCGCA2538749090OTOFc.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)
2g.26467076T>CCA44413599OTOFc.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
2g.26467076T=CA1239817814OTOFc.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=)
2g.26467076_26467077insCGTGTACA2513231203OTOFc.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)
2g.26467078G>ACA1028607458OTOFc.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
2g.26467078G=CA1239817815OTOFc.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=)
2g.26467079G>ACA767269986OTOFc.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
2g.26467079G=CA1239817817OTOFc.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=)
2g.26467079G>TCA2658234807OTOFc.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
2g.26467080C>TCA2658234808OTOFc.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
2g.26467082delCA2576699109OTOFc.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)
2g.26467082C>ACA2658234809OTOFc.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
2g.26467082C=CA1239817818OTOFc.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=)
2g.26467082C>GCA2576699110OTOFc.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
2g.26467082C>TCA1563205OTOFc.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
2g.26467083G>ACA1239817820OTOFc.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
2g.26467083G=CA1239817819OTOFc.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=)
2g.26467084T>CCA2658234810OTOFc.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
2g.26467085G>ACA2658234811OTOFc.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
2g.26467087T>ACA1563206OTOFc.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
2g.26467087T=CA1239817822OTOFc.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=)
2g.26467089C=CA1239817823OTOFc.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=)
2g.26467089C>TCA44413600OTOFc.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
2g.26467090T>CCA2658234812OTOFc.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
2g.26467092G>ACA531761719OTOFc.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
2g.26467092G>CCA2740092763OTOFc.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
2g.26467092G=CA1239817824OTOFc.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=)
2g.26467092G>TCA2658234813OTOFc.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
2g.26467093C>ACA2658234814OTOFc.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
2g.26467094C=CA1239817826OTOFc.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=)
2g.26467094C>GCA531761720OTOFc.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
2g.26467096G>TCA2658234815OTOFc.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
2g.26467097A>CCA346136687OTOFc.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)
2g.26467097A>GCA346136689OTOFc.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)
2g.26467097A>TCA346136691OTOFc.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)
2g.26467098C>ACA346136694OTOFc.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
2g.26467098C=CA1239817827OTOFc.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=)
2g.26467098C>GCA346136695OTOFc.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
2g.26467098C>TCA346136692OTOFc.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
2g.26467099C>ACA346136697OTOFc.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)
2g.26467099C>GCA346136698OTOFc.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
2g.26467099C>TCA425359546OTOFc.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=)
2g.26467100T>ACA346136699OTOFc.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)
2g.26467100T>CCA346136700OTOFc.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
2g.26467100T>GCA346136702OTOFc.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)
2g.26467101T>ACA346136706OTOFc.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)
2g.26467101T>CCA346136703OTOFc.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)
2g.26467101T>GCA346136705OTOFc.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)
2g.26467102G>ACA425359548OTOFc.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=)
2g.26467102G>CCA346136708OTOFc.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)
2g.26467102G>TCA346136709OTOFc.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
2g.26467103A>CCA346136711OTOFc.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)
2g.26467103A>GCA346136712OTOFc.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)
2g.26467103A>TCA346136714OTOFc.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)
2g.26467104A=CA1239817830OTOFc.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=)
2g.26467104A>CCA346136718OTOFc.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)
2g.26467104A>GCA346136715OTOFc.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
2g.26467104A>TCA346136717OTOFc.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
2g.26467105G>ACA425359555OTOFc.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=)
2g.26467105G>CCA425359556OTOFc.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=)
2g.26467105G>TCA425359557OTOFc.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=)
2g.26467106C>ACA346136720OTOFc.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)
2g.26467106C=CA1239817832OTOFc.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=)
2g.26467106C>GCA346136722OTOFc.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)
2g.26467106C>TCA1563207OTOFc.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
2g.26467107G>ACA1563208OTOFc.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
2g.26467107G>CCA346136724OTOFc.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)
2g.26467107G=CA1239817835OTOFc.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=)
2g.26467107G>TCA44413612OTOFc.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
2g.26467108T>ACA425359563OTOFc.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=)
2g.26467108T>CCA425359564OTOFc.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=)
2g.26467108T>GCA425359565OTOFc.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=)
2g.26467109C>ACA1563209OTOFc.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
2g.26467109C=CA1239817838OTOFc.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=)
2g.26467109C>GCA346136725OTOFc.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)
2g.26467109C>TCA346136727OTOFc.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)
2g.26467110C>ACA345123OTOFc.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
2g.26467110C=CA1239817843OTOFc.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=)
2g.26467110C>GCA346136729OTOFc.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)
2g.26467110C>TCA346136730OTOFc.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
2g.26467111C>ACA425359577OTOFc.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=)
2g.26467111C>GCA425359576OTOFc.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=)
2g.26467111C>TCA425359574OTOFc.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=)
2g.26467112A>CCA346136732OTOFc.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)
2g.26467112A>GCA346136734OTOFc.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)
2g.26467112A>TCA346136735OTOFc.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)
2g.26467113C>ACA346136736OTOFc.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)
2g.26467113C=CA1239817847OTOFc.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=)
2g.26467113C>GCA346136739OTOFc.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)
2g.26467113C>TCA346136737OTOFc.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
2g.26467114A=CA1239817853OTOFc.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=)
2g.26467114A>CCA346136740OTOFc.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)
2g.26467114A>GCA425359582OTOFc.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=)
2g.26467114A>TCA425359583OTOFc.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
2g.26467115A=CA1239817859OTOFc.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=)
2g.26467115A>CCA346136742OTOFc.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)
2g.26467115A>GCA44413613OTOFc.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
2g.26467115A>TCA346136744OTOFc.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)
2g.26467115_26467118dupCA1239817857OTOFc.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
2g.26467116T>ACA346136746OTOFc.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)
2g.26467116T>CCA346136748OTOFc.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
2g.26467116T>GCA346136749OTOFc.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)
2g.26467116T=CA1239817862OTOFc.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=)
2g.26467117G>ACA425359586OTOFc.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=)
2g.26467117G>CCA425359587OTOFc.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=)
2g.26467117G>TCA425359589OTOFc.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=)
2g.26467118C>ACA346136750OTOFc.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
2g.26467118C=CA1239817868OTOFc.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=)
2g.26467118C>GCA346136752OTOFc.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)
2g.26467118C>TCA1563210OTOFc.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
2g.26467119G>ACA177545OTOFc.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
2g.26467119G>CCA346136756OTOFc.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)
2g.26467119G=CA1239817873OTOFc.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=)
2g.26467119G>TCA346136754OTOFc.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)
2g.26467120C>ACA1563211OTOFc.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
2g.26467120C=CA1239817879OTOFc.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=)
2g.26467120C>GCA346136758OTOFc.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)
2g.26467120C>TCA142886OTOFc.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
2g.26467121T>ACA346136763OTOFc.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)
2g.26467121T>CCA346136765OTOFc.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)
2g.26467121T>GCA346136766OTOFc.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)
2g.26467126_26467143delCA2523588077OTOFc.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
2g.26467122C>ACA346136771OTOFc.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)
2g.26467122C=CA1239817882OTOFc.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=)
2g.26467122C>GCA346136769OTOFc.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)
2g.26467122C>TCA1563212OTOFc.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
2g.26467123C>ACA346136772OTOFc.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)
2g.26467123C=CA1239817886OTOFc.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=)
2g.26467123C>GCA346136773OTOFc.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
2g.26467123C>TCA1563213OTOFc.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
2g.26467124T>ACA346136776OTOFc.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)
2g.26467124T>CCA346136778OTOFc.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)
2g.26467124T>GCA346136779OTOFc.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)
2g.26467125C>ACA346136780OTOFc.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
2g.26467125C>GCA346136783OTOFc.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)
2g.26467125C>TCA346136781OTOFc.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)
2g.26467126C>ACA346136784OTOFc.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)
2g.26467126C>GCA346136785OTOFc.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)
2g.26467126C>TCA425359603OTOFc.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
2g.26467127T>ACA346136788OTOFc.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)
2g.26467127T>CCA346136789OTOFc.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
2g.26467127T>GCA346136792OTOFc.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)
2g.26467127T=CA1239817892OTOFc.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=)
2g.26467128C>ACA346136794OTOFc.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)
2g.26467128C=CA1239817900OTOFc.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=)
2g.26467128C>GCA346136797OTOFc.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)
2g.26467128C>TCA1563214OTOFc.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
2g.26467128_26467131delinsCGGTCA1239817899OTOFc.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=)
2g.26467129G>ACA142884OTOFc.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
2g.26467129G>CCA425359610OTOFc.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
2g.26467129G=CA1239817907OTOFc.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=)
2g.26467129G>TCA1563216OTOFc.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
2g.26467131_26467133delCA1563215OTOFc.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
2g.26467130G>ACA346136801OTOFc.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
2g.26467130G>CCA346136803OTOFc.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)
2g.26467130G=CA1239817911OTOFc.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=)
2g.26467130G>TCA346136800OTOFc.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
2g.26467131T>ACA346136805OTOFc.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)
2g.26467131T>CCA346136808OTOFc.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)
2g.26467131T>GCA346136807OTOFc.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)
2g.26467132G>ACA425359617OTOFc.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=)
2g.26467132G>CCA425359614OTOFc.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=)
2g.26467132G>TCA425359615OTOFc.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=)
2g.26467133G>ACA1563217OTOFc.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
2g.26467133G>CCA346136812OTOFc.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
2g.26467133G=CA1239817916OTOFc.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=)
2g.26467133G>TCA346136810OTOFc.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)
2g.26467134A>CCA346136813OTOFc.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)
2g.26467134A>GCA346136815OTOFc.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)
2g.26467134A>TCA346136816OTOFc.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)
2g.26467135G>ACA425359621OTOFc.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=)
2g.26467135G>CCA425359622OTOFc.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=)
2g.26467135G>TCA425359623OTOFc.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
2g.26467136C>ACA346136817OTOFc.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
2g.26467136C>GCA346136819OTOFc.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)
2g.26467136C>TCA346136821OTOFc.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
2g.26467137C>ACA346136822OTOFc.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)
2g.26467137C=CA1239817921OTOFc.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=)
2g.26467137C>GCA346136823OTOFc.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)
2g.26467137C>TCA1563218OTOFc.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
2g.26467137_26467144dupCA2576699117OTOFc.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?)
2g.26467137_26467138insGCTGATGACGGCGTGGTATTCCTGCACGTCAGTTGATTCTGCCGCCATGAGTGCTTTGAGGGCGGCGCGGCGCTCTTCGAGGGTGCGCTCACCTGCGTTGTGCTCACCGGCGCTGCATTCGTTAGGGTTCA2511824366OTOFc.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)
2g.26467138A>CCA346136825OTOFc.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
2g.26467138A>GCA425359625OTOFc.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=)
2g.26467138A>TCA346136827OTOFc.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)
2g.26467139T>ACA44413664OTOFc.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
2g.26467139T>CCA346136829OTOFc.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
2g.26467139T>GCA346136830OTOFc.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)
2g.26467139T=CA1239817925OTOFc.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=)
2g.26467140C>ACA346136833OTOFc.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)
2g.26467140C=CA1239817929OTOFc.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=)
2g.26467140C>GCA346136834OTOFc.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
2g.26467140C>TCA346136835OTOFc.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)
2g.26467141C>ACA346136836OTOFc.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)
2g.26467141C=CA1239817933OTOFc.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=)
2g.26467141C>GCA44413668OTOFc.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
2g.26467141C>TCA425359631OTOFc.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
2g.26467142T>ACA346136837OTOFc.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)
2g.26467142T>CCA346136838OTOFc.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
2g.26467142T>GCA346136839OTOFc.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
2g.26467142T=CA1239817935OTOFc.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=)
2g.26467143C>ACA346136840OTOFc.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)
2g.26467143C>GCA346136841OTOFc.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)
2g.26467143C>TCA346136843OTOFc.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
2g.26467144A>CCA346136846OTOFc.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)
2g.26467144A>GCA425359635OTOFc.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=)
2g.26467144A>TCA346136845OTOFc.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)
2g.26467145T>ACA346136848OTOFc.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)
2g.26467145T>CCA346136849OTOFc.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)
2g.26467145T>GCA346136850OTOFc.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)
2g.26467146C>ACA346136852OTOFc.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)
2g.26467146C>GCA346136854OTOFc.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)
2g.26467146C>TCA346136856OTOFc.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)
2g.26467147A>CCA346136859OTOFc.4314T>G (p.Asp1438Glu)
c.2013T>G (p.Asp671Glu)
c.2073T>G (p.Asp691Glu)
c.2244T>G (p.Asp748Glu)
c.4299T>G (p.Asp1433Glu)
c.4359T>G (p.Asp1453Glu)
c.4254T>G (p.Asp1418Glu)
2g.26467147A>GCA425359638OTOFc.4314T>C (p.Asp1438=)
c.2013T>C (p.Asp671=)
c.2073T>C (p.Asp691=)
c.2244T>C (p.Asp748=)
c.4299T>C (p.Asp1433=)
c.4359T>C (p.Asp1453=)
c.4254T>C (p.Asp1418=)
2g.26467147A>TCA346136857OTOFc.4314T>A (p.Asp1438Glu)
c.2013T>A (p.Asp671Glu)
c.2073T>A (p.Asp691Glu)
c.2244T>A (p.Asp748Glu)
c.4299T>A (p.Asp1433Glu)
c.4359T>A (p.Asp1453Glu)
c.4254T>A (p.Asp1418Glu)
2g.26467148T>ACA1563219OTOFc.4313A>T (p.Asp1438Val)
c.2012A>T (p.Asp671Val)
c.2072A>T (p.Asp691Val)
c.2243A>T (p.Asp748Val)
c.4298A>T (p.Asp1433Val)
c.4358A>T (p.Asp1453Val)
c.4253A>T (p.Asp1418Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467148T>CCA346136861OTOFc.4313A>G (p.Asp1438Gly)
c.2012A>G (p.Asp671Gly)
c.2072A>G (p.Asp691Gly)
c.2243A>G (p.Asp748Gly)
c.4298A>G (p.Asp1433Gly)
c.4358A>G (p.Asp1453Gly)
c.4253A>G (p.Asp1418Gly)
2g.26467148T>GCA346136862OTOFc.4313A>C (p.Asp1438Ala)
c.2012A>C (p.Asp671Ala)
c.2072A>C (p.Asp691Ala)
c.2243A>C (p.Asp748Ala)
c.4298A>C (p.Asp1433Ala)
c.4358A>C (p.Asp1453Ala)
c.4253A>C (p.Asp1418Ala)
2g.26467148T=CA1239817938OTOFc.4313A= (p.Asp1438=)
c.2012A= (p.Asp671=)
c.2072A= (p.Asp691=)
c.2243A= (p.Asp748=)
c.4298A= (p.Asp1433=)
c.4358A= (p.Asp1453=)
c.4253A= (p.Asp1418=)

Number of alleles fetched