Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477356_26477366delinsGTGACACCTTC | CA1239829928 | OTOF | c.2406+50_2406+60delinsGAAGGTGTCAC (n.2406+50_2406+60delinsGAAGGTGTCAC) c.165+50_165+60delinsGAAGGTGTCAC (n.165+50_165+60delinsGAAGGTGTCAC) c.336+50_336+60delinsGAAGGTGTCAC (n.336+50_336+60delinsGAAGGTGTCAC) c.2451+50_2451+60delinsGAAGGTGTCAC (n.2451+50_2451+60delinsGAAGGTGTCAC) | |
2 | g.26477358_26477367del | CA1239829929 | OTOF | c.2406+50_2406+59del (n.2406+50_2406+59del) c.165+50_165+59del (n.165+50_165+59del) c.336+50_336+59del (n.336+50_336+59del) c.2451+50_2451+59del (n.2451+50_2451+59del) | dbSNP |
2 | g.26477362C>A | CA531761841 | OTOF | c.2406+54G>T (n.2406+54G>T) c.165+54G>T (n.165+54G>T) c.336+54G>T (n.336+54G>T) c.2451+54G>T (n.2451+54G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477362C= | CA1239829933 | OTOF | c.2406+54G= (n.2406+54G=) c.165+54G= (n.165+54G=) c.336+54G= (n.336+54G=) c.2451+54G= (n.2451+54G=) | |
2 | g.26477362C>G | CA767285126 | OTOF | c.2406+54G>C (n.2406+54G>C) c.165+54G>C (n.165+54G>C) c.336+54G>C (n.336+54G>C) c.2451+54G>C (n.2451+54G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477362C>T | CA44398408 | OTOF | c.2406+54G>A (n.2406+54G>A) c.165+54G>A (n.165+54G>A) c.336+54G>A (n.336+54G>A) c.2451+54G>A (n.2451+54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477363C>A | CA2658237919 | OTOF | c.2406+53G>T (n.2406+53G>T) c.165+53G>T (n.165+53G>T) c.336+53G>T (n.336+53G>T) c.2451+53G>T (n.2451+53G>T) | gnomAD v4 |
2 | g.26477363C= | CA1239829935 | OTOF | c.2406+53G= (n.2406+53G=) c.165+53G= (n.165+53G=) c.336+53G= (n.336+53G=) c.2451+53G= (n.2451+53G=) | |
2 | g.26477363C>G | CA2658237920 | OTOF | c.2406+53G>C (n.2406+53G>C) c.165+53G>C (n.165+53G>C) c.336+53G>C (n.336+53G>C) c.2451+53G>C (n.2451+53G>C) | gnomAD v4 |
2 | g.26477363C>T | CA44398412 | OTOF | c.2406+53G>A (n.2406+53G>A) c.165+53G>A (n.165+53G>A) c.336+53G>A (n.336+53G>A) c.2451+53G>A (n.2451+53G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477364T>C | CA2658237921 | OTOF | c.2406+52A>G (n.2406+52A>G) c.165+52A>G (n.165+52A>G) c.336+52A>G (n.336+52A>G) c.2451+52A>G (n.2451+52A>G) | gnomAD v4 |
2 | g.26477364T>G | CA2658237922 | OTOF | c.2406+52A>C (n.2406+52A>C) c.165+52A>C (n.165+52A>C) c.336+52A>C (n.336+52A>C) c.2451+52A>C (n.2451+52A>C) | gnomAD v4 |
2 | g.26477365T>C | CA2749240624 | OTOF | c.2406+51A>G (n.2406+51A>G) c.165+51A>G (n.165+51A>G) c.336+51A>G (n.336+51A>G) c.2451+51A>G (n.2451+51A>G) | |
2 | g.26477366C>G | CA2658237923 | OTOF | c.2406+50G>C (n.2406+50G>C) c.165+50G>C (n.165+50G>C) c.336+50G>C (n.336+50G>C) c.2451+50G>C (n.2451+50G>C) | gnomAD v4 |
2 | g.26477368C>A | CA2658237924 | OTOF | c.2406+48G>T (n.2406+48G>T) c.165+48G>T (n.165+48G>T) c.336+48G>T (n.336+48G>T) c.2451+48G>T (n.2451+48G>T) | gnomAD v4 |
2 | g.26477368C= | CA1239829939 | OTOF | c.2406+48G= (n.2406+48G=) c.165+48G= (n.165+48G=) c.336+48G= (n.336+48G=) c.2451+48G= (n.2451+48G=) | |
2 | g.26477368C>G | CA1239829940 | OTOF | c.2406+48G>C (n.2406+48G>C) c.165+48G>C (n.165+48G>C) c.336+48G>C (n.336+48G>C) c.2451+48G>C (n.2451+48G>C) | dbSNP |
2 | g.26477368C>T | CA1563920 | OTOF | c.2406+48G>A (n.2406+48G>A) c.165+48G>A (n.165+48G>A) c.336+48G>A (n.336+48G>A) c.2451+48G>A (n.2451+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477369_26477373del | CA2844987610 | OTOF | c.2406+44_2406+48del (n.2406+44_2406+48del) c.165+44_165+48del (n.165+44_165+48del) c.336+44_336+48del (n.336+44_336+48del) c.2451+44_2451+48del (n.2451+44_2451+48del) | |
2 | g.26477369A= | CA1239829943 | OTOF | c.2406+47T= (n.2406+47T=) c.165+47T= (n.165+47T=) c.336+47T= (n.336+47T=) c.2451+47T= (n.2451+47T=) | |
2 | g.26477369A>C | CA2658237925 | OTOF | c.2406+47T>G (n.2406+47T>G) c.165+47T>G (n.165+47T>G) c.336+47T>G (n.336+47T>G) c.2451+47T>G (n.2451+47T>G) | gnomAD v4 |
2 | g.26477369A>T | CA1563921 | OTOF | c.2406+47T>A (n.2406+47T>A) c.165+47T>A (n.165+47T>A) c.336+47T>A (n.336+47T>A) c.2451+47T>A (n.2451+47T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477370C>A | CA531761847 | OTOF | c.2406+46G>T (n.2406+46G>T) c.165+46G>T (n.165+46G>T) c.336+46G>T (n.336+46G>T) c.2451+46G>T (n.2451+46G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477370C= | CA1239829945 | OTOF | c.2406+46G= (n.2406+46G=) c.165+46G= (n.165+46G=) c.336+46G= (n.336+46G=) c.2451+46G= (n.2451+46G=) | |
2 | g.26477370C>T | CA531761845 | OTOF | c.2406+46G>A (n.2406+46G>A) c.165+46G>A (n.165+46G>A) c.336+46G>A (n.336+46G>A) c.2451+46G>A (n.2451+46G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477372A>G | CA2698921013 | OTOF | c.2406+44T>C (n.2406+44T>C) c.165+44T>C (n.165+44T>C) c.336+44T>C (n.336+44T>C) c.2451+44T>C (n.2451+44T>C) | dbSNP |
2 | g.26477373C>A | CA2658237926 | OTOF | c.2406+43G>T (n.2406+43G>T) c.165+43G>T (n.165+43G>T) c.336+43G>T (n.336+43G>T) c.2451+43G>T (n.2451+43G>T) | gnomAD v4 |
2 | g.26477373C= | CA1239829948 | OTOF | c.2406+43G= (n.2406+43G=) c.165+43G= (n.165+43G=) c.336+43G= (n.336+43G=) c.2451+43G= (n.2451+43G=) | |
2 | g.26477373C>G | CA1563922 | OTOF | c.2406+43G>C (n.2406+43G>C) c.165+43G>C (n.165+43G>C) c.336+43G>C (n.336+43G>C) c.2451+43G>C (n.2451+43G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477374dup | CA2842281666 | OTOF | c.2406+43dup (n.2406+43dup) c.165+43dup (n.165+43dup) c.336+43dup (n.336+43dup) c.2451+43dup (n.2451+43dup) | |
2 | g.26477374C>A | CA2658237927 | OTOF | c.2406+42G>T (n.2406+42G>T) c.165+42G>T (n.165+42G>T) c.336+42G>T (n.336+42G>T) c.2451+42G>T (n.2451+42G>T) | gnomAD v4 |
2 | g.26477374C= | CA1239829951 | OTOF | c.2406+42G= (n.2406+42G=) c.165+42G= (n.165+42G=) c.336+42G= (n.336+42G=) c.2451+42G= (n.2451+42G=) | |
2 | g.26477374C>G | CA1239829952 | OTOF | c.2406+42G>C (n.2406+42G>C) c.165+42G>C (n.165+42G>C) c.336+42G>C (n.336+42G>C) c.2451+42G>C (n.2451+42G>C) | dbSNP gnomAD v4 |
2 | g.26477374C>T | CA2658237928 | OTOF | c.2406+42G>A (n.2406+42G>A) c.165+42G>A (n.165+42G>A) c.336+42G>A (n.336+42G>A) c.2451+42G>A (n.2451+42G>A) | gnomAD v4 |
2 | g.26477376G>A | CA1563923 | OTOF | c.2406+40C>T (n.2406+40C>T) c.165+40C>T (n.165+40C>T) c.336+40C>T (n.336+40C>T) c.2451+40C>T (n.2451+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477376G= | CA1239829953 | OTOF | c.2406+40C= (n.2406+40C=) c.165+40C= (n.165+40C=) c.336+40C= (n.336+40C=) c.2451+40C= (n.2451+40C=) | |
2 | g.26477377G>C | CA2658237929 | OTOF | c.2406+39C>G (n.2406+39C>G) c.165+39C>G (n.165+39C>G) c.336+39C>G (n.336+39C>G) c.2451+39C>G (n.2451+39C>G) | gnomAD v4 |
2 | g.26477378C>A | CA2658237930 | OTOF | c.2406+38G>T (n.2406+38G>T) c.165+38G>T (n.165+38G>T) c.336+38G>T (n.336+38G>T) c.2451+38G>T (n.2451+38G>T) | gnomAD v4 |
2 | g.26477378C= | CA1239829985 | OTOF | c.2406+38G= (n.2406+38G=) c.165+38G= (n.165+38G=) c.336+38G= (n.336+38G=) c.2451+38G= (n.2451+38G=) | |
2 | g.26477378C>G | CA2698800449 | OTOF | c.2406+38G>C (n.2406+38G>C) c.165+38G>C (n.165+38G>C) c.336+38G>C (n.336+38G>C) c.2451+38G>C (n.2451+38G>C) | dbSNP |
2 | g.26477378C>T | CA531761851 | OTOF | c.2406+38G>A (n.2406+38G>A) c.165+38G>A (n.165+38G>A) c.336+38G>A (n.336+38G>A) c.2451+38G>A (n.2451+38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477379C= | CA1239829988 | OTOF | c.2406+37G= (n.2406+37G=) c.165+37G= (n.165+37G=) c.336+37G= (n.336+37G=) c.2451+37G= (n.2451+37G=) | |
2 | g.26477379C>G | CA531761853 | OTOF | c.2406+37G>C (n.2406+37G>C) c.165+37G>C (n.165+37G>C) c.336+37G>C (n.336+37G>C) c.2451+37G>C (n.2451+37G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477380C>A | CA2581758126 | OTOF | c.2406+36G>T (n.2406+36G>T) c.165+36G>T (n.165+36G>T) c.336+36G>T (n.336+36G>T) c.2451+36G>T (n.2451+36G>T) | |
2 | g.26477380C= | CA1239829992 | OTOF | c.2406+36G= (n.2406+36G=) c.165+36G= (n.165+36G=) c.336+36G= (n.336+36G=) c.2451+36G= (n.2451+36G=) | |
2 | g.26477380C>G | CA2576699506 | OTOF | c.2406+36G>C (n.2406+36G>C) c.165+36G>C (n.165+36G>C) c.336+36G>C (n.336+36G>C) c.2451+36G>C (n.2451+36G>C) | gnomAD v4 |
2 | g.26477380C>T | CA1563924 | OTOF | c.2406+36G>A (n.2406+36G>A) c.165+36G>A (n.165+36G>A) c.336+36G>A (n.336+36G>A) c.2451+36G>A (n.2451+36G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477384dup | CA2576699507 | OTOF | c.2406+34dup (n.2406+34dup) c.165+34dup (n.165+34dup) c.336+34dup (n.336+34dup) c.2451+34dup (n.2451+34dup) | |
2 | g.26477383C>A | CA2658237931 | OTOF | c.2406+33G>T (n.2406+33G>T) c.165+33G>T (n.165+33G>T) c.336+33G>T (n.336+33G>T) c.2451+33G>T (n.2451+33G>T) | gnomAD v4 |
2 | g.26477384C>A | CA2658237932 | OTOF | c.2406+32G>T (n.2406+32G>T) c.165+32G>T (n.165+32G>T) c.336+32G>T (n.336+32G>T) c.2451+32G>T (n.2451+32G>T) | gnomAD v4 |
2 | g.26477384C= | CA1239829996 | OTOF | c.2406+32G= (n.2406+32G=) c.165+32G= (n.165+32G=) c.336+32G= (n.336+32G=) c.2451+32G= (n.2451+32G=) | |
2 | g.26477384C>T | CA1028608286 | OTOF | c.2406+32G>A (n.2406+32G>A) c.165+32G>A (n.165+32G>A) c.336+32G>A (n.336+32G>A) c.2451+32G>A (n.2451+32G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477385dup | CA2838617200 | OTOF | c.2406+31dup (n.2406+31dup) c.165+31dup (n.165+31dup) c.336+31dup (n.336+31dup) c.2451+31dup (n.2451+31dup) | |
2 | g.26477387C= | CA1239829999 | OTOF | c.2406+29G= (n.2406+29G=) c.165+29G= (n.165+29G=) c.336+29G= (n.336+29G=) c.2451+29G= (n.2451+29G=) | |
2 | g.26477387C>T | CA1563925 | OTOF | c.2406+29G>A (n.2406+29G>A) c.165+29G>A (n.165+29G>A) c.336+29G>A (n.336+29G>A) c.2451+29G>A (n.2451+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477388del | CA2844987611 | OTOF | c.2406+28del (n.2406+28del) c.165+28del (n.165+28del) c.336+28del (n.336+28del) c.2451+28del (n.2451+28del) | |
2 | g.26477388A= | CA1239830002 | OTOF | c.2406+28T= (n.2406+28T=) c.165+28T= (n.165+28T=) c.336+28T= (n.336+28T=) c.2451+28T= (n.2451+28T=) | |
2 | g.26477388A>C | CA44398430 | OTOF | c.2406+28T>G (n.2406+28T>G) c.165+28T>G (n.165+28T>G) c.336+28T>G (n.336+28T>G) c.2451+28T>G (n.2451+28T>G) | dbSNP |
2 | g.26477388A>G | CA2658237933 | OTOF | c.2406+28T>C (n.2406+28T>C) c.165+28T>C (n.165+28T>C) c.336+28T>C (n.336+28T>C) c.2451+28T>C (n.2451+28T>C) | gnomAD v4 |
2 | g.26477389G>A | CA1563926 | OTOF | c.2406+27C>T (n.2406+27C>T) c.165+27C>T (n.165+27C>T) c.336+27C>T (n.336+27C>T) c.2451+27C>T (n.2451+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477389G= | CA1239830006 | OTOF | c.2406+27C= (n.2406+27C=) c.165+27C= (n.165+27C=) c.336+27C= (n.336+27C=) c.2451+27C= (n.2451+27C=) | |
2 | g.26477389G>T | CA2658237934 | OTOF | c.2406+27C>A (n.2406+27C>A) c.165+27C>A (n.165+27C>A) c.336+27C>A (n.336+27C>A) c.2451+27C>A (n.2451+27C>A) | gnomAD v4 |
2 | g.26477390C>A | CA2658237936 | OTOF | c.2406+26G>T (n.2406+26G>T) c.165+26G>T (n.165+26G>T) c.336+26G>T (n.336+26G>T) c.2451+26G>T (n.2451+26G>T) | gnomAD v4 |
2 | g.26477390C= | CA1239830007 | OTOF | c.2406+26G= (n.2406+26G=) c.165+26G= (n.165+26G=) c.336+26G= (n.336+26G=) c.2451+26G= (n.2451+26G=) | |
2 | g.26477390C>G | CA531761855 | OTOF | c.2406+26G>C (n.2406+26G>C) c.165+26G>C (n.165+26G>C) c.336+26G>C (n.336+26G>C) c.2451+26G>C (n.2451+26G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477390C>T | CA2562720205 | OTOF | c.2406+26G>A (n.2406+26G>A) c.165+26G>A (n.165+26G>A) c.336+26G>A (n.336+26G>A) c.2451+26G>A (n.2451+26G>A) | dbSNP gnomAD v4 |
2 | g.26477394del | CA2658237935 | OTOF | c.2406+26del (n.2406+26del) c.165+26del (n.165+26del) c.336+26del (n.336+26del) c.2451+26del (n.2451+26del) | gnomAD v4 |
2 | g.26477391C>A | CA2658237937 | OTOF | c.2406+25G>T (n.2406+25G>T) c.165+25G>T (n.165+25G>T) c.336+25G>T (n.336+25G>T) c.2451+25G>T (n.2451+25G>T) | gnomAD v4 |
2 | g.26477391C= | CA1239830009 | OTOF | c.2406+25G= (n.2406+25G=) c.165+25G= (n.165+25G=) c.336+25G= (n.336+25G=) c.2451+25G= (n.2451+25G=) | |
2 | g.26477391C>G | CA1563927 | OTOF | c.2406+25G>C (n.2406+25G>C) c.165+25G>C (n.165+25G>C) c.336+25G>C (n.336+25G>C) c.2451+25G>C (n.2451+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477392C>A | CA1563928 | OTOF | c.2406+24G>T (n.2406+24G>T) c.165+24G>T (n.165+24G>T) c.336+24G>T (n.336+24G>T) c.2451+24G>T (n.2451+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477392C= | CA1239830011 | OTOF | c.2406+24G= (n.2406+24G=) c.165+24G= (n.165+24G=) c.336+24G= (n.336+24G=) c.2451+24G= (n.2451+24G=) | |
2 | g.26477393C>A | CA2658237938 | OTOF | c.2406+23G>T (n.2406+23G>T) c.165+23G>T (n.165+23G>T) c.336+23G>T (n.336+23G>T) c.2451+23G>T (n.2451+23G>T) | gnomAD v4 |
2 | g.26477394C>A | CA2658237939 | OTOF | c.2406+22G>T (n.2406+22G>T) c.165+22G>T (n.165+22G>T) c.336+22G>T (n.336+22G>T) c.2451+22G>T (n.2451+22G>T) | gnomAD v4 |
2 | g.26477394C= | CA1239830013 | OTOF | c.2406+22G= (n.2406+22G=) c.165+22G= (n.165+22G=) c.336+22G= (n.336+22G=) c.2451+22G= (n.2451+22G=) | |
2 | g.26477394C>T | CA531761857 | OTOF | c.2406+22G>A (n.2406+22G>A) c.165+22G>A (n.165+22G>A) c.336+22G>A (n.336+22G>A) c.2451+22G>A (n.2451+22G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.26477395G>A | CA1563929 | OTOF | c.2406+21C>T (n.2406+21C>T) c.165+21C>T (n.165+21C>T) c.336+21C>T (n.336+21C>T) c.2451+21C>T (n.2451+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477395G= | CA1239830015 | OTOF | c.2406+21C= (n.2406+21C=) c.165+21C= (n.165+21C=) c.336+21C= (n.336+21C=) c.2451+21C= (n.2451+21C=) | |
2 | g.26477395G>T | CA2658237940 | OTOF | c.2406+21C>A (n.2406+21C>A) c.165+21C>A (n.165+21C>A) c.336+21C>A (n.336+21C>A) c.2451+21C>A (n.2451+21C>A) | gnomAD v4 |
2 | g.26477396C>A | CA2658237941 | OTOF | c.2406+20G>T (n.2406+20G>T) c.165+20G>T (n.165+20G>T) c.336+20G>T (n.336+20G>T) c.2451+20G>T (n.2451+20G>T) | gnomAD v4 |
2 | g.26477396C>T | CA2658237942 | OTOF | c.2406+20G>A (n.2406+20G>A) c.165+20G>A (n.165+20G>A) c.336+20G>A (n.336+20G>A) c.2451+20G>A (n.2451+20G>A) | gnomAD v4 |
2 | g.26477396_26477397del | CA2844987612 | OTOF | c.2406+19_2406+20del (n.2406+19_2406+20del) c.165+19_165+20del (n.165+19_165+20del) c.336+19_336+20del (n.336+19_336+20del) c.2451+19_2451+20del (n.2451+19_2451+20del) | |
2 | g.26477397dup | CA2838217096 | OTOF | c.2406+20dup (n.2406+20dup) c.165+20dup (n.165+20dup) c.336+20dup (n.336+20dup) c.2451+20dup (n.2451+20dup) | |
2 | g.26477397C>A | CA2658237943 | OTOF | c.2406+19G>T (n.2406+19G>T) c.165+19G>T (n.165+19G>T) c.336+19G>T (n.336+19G>T) c.2451+19G>T (n.2451+19G>T) | gnomAD v4 |
2 | g.26477397C= | CA1239830017 | OTOF | c.2406+19G= (n.2406+19G=) c.165+19G= (n.165+19G=) c.336+19G= (n.336+19G=) c.2451+19G= (n.2451+19G=) | |
2 | g.26477397C>T | CA1563930 | OTOF | c.2406+19G>A (n.2406+19G>A) c.165+19G>A (n.165+19G>A) c.336+19G>A (n.336+19G>A) c.2451+19G>A (n.2451+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477398G>A | CA1563931 | OTOF | c.2406+18C>T (n.2406+18C>T) c.165+18C>T (n.165+18C>T) c.336+18C>T (n.336+18C>T) c.2451+18C>T (n.2451+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477398G= | CA1239830018 | OTOF | c.2406+18C= (n.2406+18C=) c.165+18C= (n.165+18C=) c.336+18C= (n.336+18C=) c.2451+18C= (n.2451+18C=) | |
2 | g.26477398G>T | CA2658237944 | OTOF | c.2406+18C>A (n.2406+18C>A) c.165+18C>A (n.165+18C>A) c.336+18C>A (n.336+18C>A) c.2451+18C>A (n.2451+18C>A) | gnomAD v4 |
2 | g.26477399_26477400insGTGGT | CA2844987613 | OTOF | c.2406+18_2406+19insCACAC (n.2406+18_2406+19insCACAC) c.165+18_165+19insCACAC (n.165+18_165+19insCACAC) c.336+18_336+19insCACAC (n.336+18_336+19insCACAC) c.2451+18_2451+19insCACAC (n.2451+18_2451+19insCACAC) | |
2 | g.26477399T>A | CA2658237945 | OTOF | c.2406+17A>T (n.2406+17A>T) c.165+17A>T (n.165+17A>T) c.336+17A>T (n.336+17A>T) c.2451+17A>T (n.2451+17A>T) | gnomAD v4 |
2 | g.26477399T>C | CA2658237946 | OTOF | c.2406+17A>G (n.2406+17A>G) c.165+17A>G (n.165+17A>G) c.336+17A>G (n.336+17A>G) c.2451+17A>G (n.2451+17A>G) | gnomAD v4 |
2 | g.26477400C>A | CA2658237947 | OTOF | c.2406+16G>T (n.2406+16G>T) c.165+16G>T (n.165+16G>T) c.336+16G>T (n.336+16G>T) c.2451+16G>T (n.2451+16G>T) | gnomAD v4 |
2 | g.26477401C>A | CA2658237948 | OTOF | c.2406+15G>T (n.2406+15G>T) c.165+15G>T (n.165+15G>T) c.336+15G>T (n.336+15G>T) c.2451+15G>T (n.2451+15G>T) | gnomAD v4 |
2 | g.26477401C>T | CA2658237949 | OTOF | c.2406+15G>A (n.2406+15G>A) c.165+15G>A (n.165+15G>A) c.336+15G>A (n.336+15G>A) c.2451+15G>A (n.2451+15G>A) | gnomAD v4 |
2 | g.26477402A>G | CA2658237950 | OTOF | c.2406+14T>C (n.2406+14T>C) c.165+14T>C (n.165+14T>C) c.336+14T>C (n.336+14T>C) c.2451+14T>C (n.2451+14T>C) | gnomAD v4 |
2 | g.26477403G>C | CA1563932 | OTOF | c.2406+13C>G (n.2406+13C>G) c.165+13C>G (n.165+13C>G) c.336+13C>G (n.336+13C>G) c.2451+13C>G (n.2451+13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477403G= | CA1239830020 | OTOF | c.2406+13C= (n.2406+13C=) c.165+13C= (n.165+13C=) c.336+13C= (n.336+13C=) c.2451+13C= (n.2451+13C=) | |
2 | g.26477403G>T | CA2658237951 | OTOF | c.2406+13C>A (n.2406+13C>A) c.165+13C>A (n.165+13C>A) c.336+13C>A (n.336+13C>A) c.2451+13C>A (n.2451+13C>A) | gnomAD v4 |
2 | g.26477404T>C | CA2844987614 | OTOF | c.2406+12A>G (n.2406+12A>G) c.165+12A>G (n.165+12A>G) c.336+12A>G (n.336+12A>G) c.2451+12A>G (n.2451+12A>G) | |
2 | g.26477405T>C | CA2698921100 | OTOF | c.2406+11A>G (n.2406+11A>G) c.165+11A>G (n.165+11A>G) c.336+11A>G (n.336+11A>G) c.2451+11A>G (n.2451+11A>G) | dbSNP |
2 | g.26477406G>A | CA1563933 | OTOF | c.2406+10C>T (n.2406+10C>T) c.165+10C>T (n.165+10C>T) c.336+10C>T (n.336+10C>T) c.2451+10C>T (n.2451+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477406G= | CA1239830023 | OTOF | c.2406+10C= (n.2406+10C=) c.165+10C= (n.165+10C=) c.336+10C= (n.336+10C=) c.2451+10C= (n.2451+10C=) | |
2 | g.26477406G>T | CA2658237952 | OTOF | c.2406+10C>A (n.2406+10C>A) c.165+10C>A (n.165+10C>A) c.336+10C>A (n.336+10C>A) c.2451+10C>A (n.2451+10C>A) | gnomAD v4 |
2 | g.26477407C>A | CA1239830026 | OTOF | c.2406+9G>T (n.2406+9G>T) c.165+9G>T (n.165+9G>T) c.336+9G>T (n.336+9G>T) c.2451+9G>T (n.2451+9G>T) | dbSNP gnomAD v4 |
2 | g.26477407C= | CA1239830025 | OTOF | c.2406+9G= (n.2406+9G=) c.165+9G= (n.165+9G=) c.336+9G= (n.336+9G=) c.2451+9G= (n.2451+9G=) | |
2 | g.26477407C>T | CA142802 | OTOF | c.2406+9G>A (n.2406+9G>A) c.165+9G>A (n.165+9G>A) c.336+9G>A (n.336+9G>A) c.2451+9G>A (n.2451+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477408G>A | CA1563934 | OTOF | c.2406+8C>T (n.2406+8C>T) c.165+8C>T (n.165+8C>T) c.336+8C>T (n.336+8C>T) c.2451+8C>T (n.2451+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477408G= | CA1239830027 | OTOF | c.2406+8C= (n.2406+8C=) c.165+8C= (n.165+8C=) c.336+8C= (n.336+8C=) c.2451+8C= (n.2451+8C=) | |
2 | g.26477409T>C | CA531761863 | OTOF | c.2406+7A>G (n.2406+7A>G) c.165+7A>G (n.165+7A>G) c.336+7A>G (n.336+7A>G) c.2451+7A>G (n.2451+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477409T= | CA1239830033 | OTOF | c.2406+7A= (n.2406+7A=) c.165+7A= (n.165+7A=) c.336+7A= (n.336+7A=) c.2451+7A= (n.2451+7A=) | |
2 | g.26477410C>A | CA2658237953 | OTOF | c.2406+6G>T (n.2406+6G>T) c.165+6G>T (n.165+6G>T) c.336+6G>T (n.336+6G>T) c.2451+6G>T (n.2451+6G>T) | gnomAD v4 |
2 | g.26477410C>T | CA2658237954 | OTOF | c.2406+6G>A (n.2406+6G>A) c.165+6G>A (n.165+6G>A) c.336+6G>A (n.336+6G>A) c.2451+6G>A (n.2451+6G>A) | gnomAD v4 |
2 | g.26477411C>A | CA2749240626 | OTOF | c.2406+5G>T (n.2406+5G>T) c.165+5G>T (n.165+5G>T) c.336+5G>T (n.336+5G>T) c.2451+5G>T (n.2451+5G>T) | |
2 | g.26477412T>C | CA2573134381 | OTOF | c.2406+4A>G (n.2406+4A>G) c.165+4A>G (n.165+4A>G) c.336+4A>G (n.336+4A>G) c.2451+4A>G (n.2451+4A>G) | ClinVar dbSNP |
2 | g.26477413C>A | CA2658237955 | OTOF | c.2406+3G>T (n.2406+3G>T) c.165+3G>T (n.165+3G>T) c.336+3G>T (n.336+3G>T) c.2451+3G>T (n.2451+3G>T) | gnomAD v4 |
2 | g.26477413C= | CA1239830035 | OTOF | c.2406+3G= (n.2406+3G=) c.165+3G= (n.165+3G=) c.336+3G= (n.336+3G=) c.2451+3G= (n.2451+3G=) | |
2 | g.26477413C>T | CA531761864 | OTOF | c.2406+3G>A (n.2406+3G>A) c.165+3G>A (n.165+3G>A) c.336+3G>A (n.336+3G>A) c.2451+3G>A (n.2451+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477414A>C | CA346122903 | OTOF | c.2406+2T>G (n.2406+2T>G) c.165+2T>G (n.165+2T>G) c.336+2T>G (n.336+2T>G) c.2451+2T>G (n.2451+2T>G) | |
2 | g.26477414A>G | CA346122916 | OTOF | c.2406+2T>C (n.2406+2T>C) c.165+2T>C (n.165+2T>C) c.336+2T>C (n.336+2T>C) c.2451+2T>C (n.2451+2T>C) | ClinVar gnomAD v4 |
2 | g.26477414A>T | CA346122920 | OTOF | c.2406+2T>A (n.2406+2T>A) c.165+2T>A (n.165+2T>A) c.336+2T>A (n.336+2T>A) c.2451+2T>A (n.2451+2T>A) | gnomAD v4 |
2 | g.26477414dup | CA2573051914 | OTOF | c.2406+2dup (n.2406+2dup) c.165+2dup (n.165+2dup) c.336+2dup (n.336+2dup) c.2451+2dup (n.2451+2dup) | ClinVar dbSNP |
2 | g.26477415C>A | CA346122923 | OTOF | c.2406+1G>T (n.2406+1G>T) c.165+1G>T (n.165+1G>T) c.336+1G>T (n.336+1G>T) c.2451+1G>T (n.2451+1G>T) | |
2 | g.26477415C= | CA1239830037 | OTOF | c.2406+1G= (n.2406+1G=) c.165+1G= (n.165+1G=) c.336+1G= (n.336+1G=) c.2451+1G= (n.2451+1G=) | |
2 | g.26477415C>G | CA346122924 | OTOF | c.2406+1G>C (n.2406+1G>C) c.165+1G>C (n.165+1G>C) c.336+1G>C (n.336+1G>C) c.2451+1G>C (n.2451+1G>C) | |
2 | g.26477415C>T | CA44398460 | OTOF | c.2406+1G>A (n.2406+1G>A) c.165+1G>A (n.165+1G>A) c.336+1G>A (n.336+1G>A) c.2451+1G>A (n.2451+1G>A) | dbSNP |
2 | g.26477416C>A | CA425360020 | OTOF | c.2406G>T (p.Leu802=) c.165G>T (p.Leu55=) c.336G>T (p.Leu112=) c.2451G>T (p.Leu817=) | gnomAD v4 |
2 | g.26477416C>G | CA425360021 | OTOF | c.2406G>C (p.Leu802=) c.165G>C (p.Leu55=) c.336G>C (p.Leu112=) c.2451G>C (p.Leu817=) | |
2 | g.26477416C>T | CA425360022 | OTOF | c.2406G>A (p.Leu802=) c.165G>A (p.Leu55=) c.336G>A (p.Leu112=) c.2451G>A (p.Leu817=) | gnomAD v4 |
2 | g.26477417A>C | CA346122926 | OTOF | c.2405T>G (p.Leu802Arg) c.164T>G (p.Leu55Arg) c.335T>G (p.Leu112Arg) c.2450T>G (p.Leu817Arg) | |
2 | g.26477417A>G | CA346122932 | OTOF | c.2405T>C (p.Leu802Pro) c.164T>C (p.Leu55Pro) c.335T>C (p.Leu112Pro) c.2450T>C (p.Leu817Pro) | gnomAD v4 |
2 | g.26477417A>T | CA346122929 | OTOF | c.2405T>A (p.Leu802Gln) c.164T>A (p.Leu55Gln) c.335T>A (p.Leu112Gln) c.2450T>A (p.Leu817Gln) | |
2 | g.26477418G>A | CA425360027 | OTOF | c.2404C>T (p.Leu802=) c.163C>T (p.Leu55=) c.334C>T (p.Leu112=) c.2449C>T (p.Leu817=) | dbSNP gnomAD v4 |
2 | g.26477418G>C | CA346122935 | OTOF | c.2404C>G (p.Leu802Val) c.163C>G (p.Leu55Val) c.334C>G (p.Leu112Val) c.2449C>G (p.Leu817Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477418G= | CA1239830042 | OTOF | c.2404C= (p.Leu802=) c.163C= (p.Leu55=) c.334C= (p.Leu112=) c.2449C= (p.Leu817=) | |
2 | g.26477418G>T | CA346122937 | OTOF | c.2404C>A (p.Leu802Met) c.163C>A (p.Leu55Met) c.334C>A (p.Leu112Met) c.2449C>A (p.Leu817Met) | gnomAD v4 |
2 | g.26477419C>A | CA346122941 | OTOF | c.2403G>T (p.Glu801Asp) c.162G>T (p.Glu54Asp) c.333G>T (p.Glu111Asp) c.2448G>T (p.Glu816Asp) | gnomAD v4 |
2 | g.26477419C>G | CA346122945 | OTOF | c.2403G>C (p.Glu801Asp) c.162G>C (p.Glu54Asp) c.333G>C (p.Glu111Asp) c.2448G>C (p.Glu816Asp) | |
2 | g.26477419C>T | CA425360029 | OTOF | c.2403G>A (p.Glu801=) c.162G>A (p.Glu54=) c.333G>A (p.Glu111=) c.2448G>A (p.Glu816=) | |
2 | g.26477420T>A | CA1563935 | OTOF | c.2402A>T (p.Glu801Val) c.161A>T (p.Glu54Val) c.332A>T (p.Glu111Val) c.2447A>T (p.Glu816Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477420T>C | CA346122955 | OTOF | c.2402A>G (p.Glu801Gly) c.161A>G (p.Glu54Gly) c.332A>G (p.Glu111Gly) c.2447A>G (p.Glu816Gly) | |
2 | g.26477420T>G | CA346122959 | OTOF | c.2402A>C (p.Glu801Ala) c.161A>C (p.Glu54Ala) c.332A>C (p.Glu111Ala) c.2447A>C (p.Glu816Ala) | |
2 | g.26477420T= | CA1239830048 | OTOF | c.2402A= (p.Glu801=) c.161A= (p.Glu54=) c.332A= (p.Glu111=) c.2447A= (p.Glu816=) | |
2 | g.26477420_26477421delinsAA | CA142800 | OTOF | c.2401_2402delinsTT (p.Glu801Leu) c.160_161delinsTT (p.Glu54Leu) c.331_332delinsTT (p.Glu111Leu) c.2446_2447delinsTT (p.Glu816Leu) | ClinVar dbSNP |
2 | g.26477420_26477421delinsTC | CA1239830050 | OTOF | c.2401_2402delinsGA (p.Glu801=) c.160_161delinsGA (p.Glu54=) c.331_332delinsGA (p.Glu111=) c.2446_2447delinsGA (p.Glu816=) | |
2 | g.26477421C>A | CA1563936 | OTOF | c.2401G>T (p.Glu801Ter) c.160G>T (p.Glu54Ter) c.331G>T (p.Glu111Ter) c.2446G>T (p.Glu816Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477421C= | CA1239830055 | OTOF | c.2401G= (p.Glu801=) c.160G= (p.Glu54=) c.331G= (p.Glu111=) c.2446G= (p.Glu816=) | |
2 | g.26477421C>G | CA346122971 | OTOF | c.2401G>C (p.Glu801Gln) c.160G>C (p.Glu54Gln) c.331G>C (p.Glu111Gln) c.2446G>C (p.Glu816Gln) | |
2 | g.26477421C>T | CA346122973 | OTOF | c.2401G>A (p.Glu801Lys) c.160G>A (p.Glu54Lys) c.331G>A (p.Glu111Lys) c.2446G>A (p.Glu816Lys) | |
2 | g.26477422C>A | CA346122977 | OTOF | c.2400G>T (p.Arg800Ser) c.159G>T (p.Arg53Ser) c.330G>T (p.Arg110Ser) c.2445G>T (p.Arg815Ser) | |
2 | g.26477422C= | CA1239830059 | OTOF | c.2400G= (p.Arg800=) c.159G= (p.Arg53=) c.330G= (p.Arg110=) c.2445G= (p.Arg815=) | |
2 | g.26477422C>G | CA346122979 | OTOF | c.2400G>C (p.Arg800Ser) c.159G>C (p.Arg53Ser) c.330G>C (p.Arg110Ser) c.2445G>C (p.Arg815Ser) | gnomAD v4 |
2 | g.26477422C>T | CA425360033 | OTOF | c.2400G>A (p.Arg800=) c.159G>A (p.Arg53=) c.330G>A (p.Arg110=) c.2445G>A (p.Arg815=) | dbSNP |
2 | g.26477423C>A | CA346122982 | OTOF | c.2399G>T (p.Arg800Met) c.158G>T (p.Arg53Met) c.329G>T (p.Arg110Met) c.2444G>T (p.Arg815Met) | gnomAD v4 |
2 | g.26477423C= | CA1239830062 | OTOF | c.2399G= (p.Arg800=) c.158G= (p.Arg53=) c.329G= (p.Arg110=) c.2444G= (p.Arg815=) | |
2 | g.26477423C>G | CA346122984 | OTOF | c.2399G>C (p.Arg800Thr) c.158G>C (p.Arg53Thr) c.329G>C (p.Arg110Thr) c.2444G>C (p.Arg815Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477423C>T | CA346122985 | OTOF | c.2399G>A (p.Arg800Lys) c.158G>A (p.Arg53Lys) c.329G>A (p.Arg110Lys) c.2444G>A (p.Arg815Lys) | |
2 | g.26477424T>A | CA346122988 | OTOF | c.2398A>T (p.Arg800Trp) c.157A>T (p.Arg53Trp) c.328A>T (p.Arg110Trp) c.2443A>T (p.Arg815Trp) | |
2 | g.26477424T>C | CA346122989 | OTOF | c.2398A>G (p.Arg800Gly) c.157A>G (p.Arg53Gly) c.328A>G (p.Arg110Gly) c.2443A>G (p.Arg815Gly) | gnomAD v4 |
2 | g.26477424T>G | CA425360036 | OTOF | c.2398A>C (p.Arg800=) c.157A>C (p.Arg53=) c.328A>C (p.Arg110=) c.2443A>C (p.Arg815=) | |
2 | g.26477425C>A | CA346122991 | OTOF | c.2397G>T (p.Met799Ile) c.156G>T (p.Met52Ile) c.327G>T (p.Met109Ile) c.2442G>T (p.Met814Ile) | gnomAD v4 |
2 | g.26477425C>G | CA346122993 | OTOF | c.2397G>C (p.Met799Ile) c.156G>C (p.Met52Ile) c.327G>C (p.Met109Ile) c.2442G>C (p.Met814Ile) | |
2 | g.26477425C>T | CA346122995 | OTOF | c.2397G>A (p.Met799Ile) c.156G>A (p.Met52Ile) c.327G>A (p.Met109Ile) c.2442G>A (p.Met814Ile) | |
2 | g.26477426A>C | CA346122997 | OTOF | c.2396T>G (p.Met799Arg) c.155T>G (p.Met52Arg) c.326T>G (p.Met109Arg) c.2441T>G (p.Met814Arg) | |
2 | g.26477426A>G | CA346122998 | OTOF | c.2396T>C (p.Met799Thr) c.155T>C (p.Met52Thr) c.326T>C (p.Met109Thr) c.2441T>C (p.Met814Thr) | |
2 | g.26477426A>T | CA346122999 | OTOF | c.2396T>A (p.Met799Lys) c.155T>A (p.Met52Lys) c.326T>A (p.Met109Lys) c.2441T>A (p.Met814Lys) | gnomAD v4 |
2 | g.26477427T>A | CA346123003 | OTOF | c.2395A>T (p.Met799Leu) c.154A>T (p.Met52Leu) c.325A>T (p.Met109Leu) c.2440A>T (p.Met814Leu) | |
2 | g.26477427T>C | CA346123006 | OTOF | c.2395A>G (p.Met799Val) c.154A>G (p.Met52Val) c.325A>G (p.Met109Val) c.2440A>G (p.Met814Val) | gnomAD v4 |
2 | g.26477427T>G | CA346123010 | OTOF | c.2395A>C (p.Met799Leu) c.154A>C (p.Met52Leu) c.325A>C (p.Met109Leu) c.2440A>C (p.Met814Leu) | |
2 | g.26477428G>A | CA425360043 | OTOF | c.2394C>T (p.Cys798=) c.153C>T (p.Cys51=) c.324C>T (p.Cys108=) c.2439C>T (p.Cys813=) | gnomAD v4 |
2 | g.26477428G>C | CA346123024 | OTOF | c.2394C>G (p.Cys798Trp) c.153C>G (p.Cys51Trp) c.324C>G (p.Cys108Trp) c.2439C>G (p.Cys813Trp) | |
2 | g.26477428G>T | CA346123028 | OTOF | c.2394C>A (p.Cys798Ter) c.153C>A (p.Cys51Ter) c.324C>A (p.Cys108Ter) c.2439C>A (p.Cys813Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477429C>A | CA1563937 | OTOF | c.2393G>T (p.Cys798Phe) c.152G>T (p.Cys51Phe) c.323G>T (p.Cys108Phe) c.2438G>T (p.Cys813Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477429C= | CA1239830065 | OTOF | c.2393G= (p.Cys798=) c.152G= (p.Cys51=) c.323G= (p.Cys108=) c.2438G= (p.Cys813=) | |
2 | g.26477429C>G | CA346123039 | OTOF | c.2393G>C (p.Cys798Ser) c.152G>C (p.Cys51Ser) c.323G>C (p.Cys108Ser) c.2438G>C (p.Cys813Ser) | |
2 | g.26477429C>T | CA346123040 | OTOF | c.2393G>A (p.Cys798Tyr) c.152G>A (p.Cys51Tyr) c.323G>A (p.Cys108Tyr) c.2438G>A (p.Cys813Tyr) | gnomAD v4 |
2 | g.26477430A= | CA1239830067 | OTOF | c.2392T= (p.Cys798=) c.151T= (p.Cys51=) c.322T= (p.Cys108=) c.2437T= (p.Cys813=) | |
2 | g.26477430A>C | CA346123041 | OTOF | c.2392T>G (p.Cys798Gly) c.151T>G (p.Cys51Gly) c.322T>G (p.Cys108Gly) c.2437T>G (p.Cys813Gly) | |
2 | g.26477430A>G | CA44398468 | OTOF | c.2392T>C (p.Cys798Arg) c.151T>C (p.Cys51Arg) c.322T>C (p.Cys108Arg) c.2437T>C (p.Cys813Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.26477430A>T | CA346123051 | OTOF | c.2392T>A (p.Cys798Ser) c.151T>A (p.Cys51Ser) c.322T>A (p.Cys108Ser) c.2437T>A (p.Cys813Ser) | gnomAD v4 |
2 | g.26477431G>A | CA425360048 | OTOF | c.2391C>T (p.Ser797=) c.150C>T (p.Ser50=) c.321C>T (p.Ser107=) c.2436C>T (p.Ser812=) | gnomAD v4 |
2 | g.26477431G>C | CA425360050 | OTOF | c.2391C>G (p.Ser797=) c.150C>G (p.Ser50=) c.321C>G (p.Ser107=) c.2436C>G (p.Ser812=) | |
2 | g.26477431G>T | CA425360052 | OTOF | c.2391C>A (p.Ser797=) c.150C>A (p.Ser50=) c.321C>A (p.Ser107=) c.2436C>A (p.Ser812=) | gnomAD v4 |
2 | g.26477432G>A | CA346123063 | OTOF | c.2390C>T (p.Ser797Phe) c.149C>T (p.Ser50Phe) c.320C>T (p.Ser107Phe) c.2435C>T (p.Ser812Phe) | |
2 | g.26477432G>C | CA346123066 | OTOF | c.2390C>G (p.Ser797Cys) c.149C>G (p.Ser50Cys) c.320C>G (p.Ser107Cys) c.2435C>G (p.Ser812Cys) | |
2 | g.26477432G>T | CA346123069 | OTOF | c.2390C>A (p.Ser797Tyr) c.149C>A (p.Ser50Tyr) c.320C>A (p.Ser107Tyr) c.2435C>A (p.Ser812Tyr) | |
2 | g.26477433A>C | CA346123073 | OTOF | c.2389T>G (p.Ser797Ala) c.148T>G (p.Ser50Ala) c.319T>G (p.Ser107Ala) c.2434T>G (p.Ser812Ala) | |
2 | g.26477433A>G | CA346123074 | OTOF | c.2389T>C (p.Ser797Pro) c.148T>C (p.Ser50Pro) c.319T>C (p.Ser107Pro) c.2434T>C (p.Ser812Pro) | |
2 | g.26477433A>T | CA346123075 | OTOF | c.2389T>A (p.Ser797Thr) c.148T>A (p.Ser50Thr) c.319T>A (p.Ser107Thr) c.2434T>A (p.Ser812Thr) | |
2 | g.26477434C>A | CA346123085 | OTOF | c.2388G>T (p.Lys796Asn) c.147G>T (p.Lys49Asn) c.318G>T (p.Lys106Asn) c.2433G>T (p.Lys811Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477434C= | CA1239830069 | OTOF | c.2388G= (p.Lys796=) c.147G= (p.Lys49=) c.318G= (p.Lys106=) c.2433G= (p.Lys811=) | |
2 | g.26477434C>G | CA346123079 | OTOF | c.2388G>C (p.Lys796Asn) c.147G>C (p.Lys49Asn) c.318G>C (p.Lys106Asn) c.2433G>C (p.Lys811Asn) | |
2 | g.26477434C>T | CA425360055 | OTOF | c.2388G>A (p.Lys796=) c.147G>A (p.Lys49=) c.318G>A (p.Lys106=) c.2433G>A (p.Lys811=) | |
2 | g.26477435T>A | CA346123091 | OTOF | c.2387A>T (p.Lys796Met) c.146A>T (p.Lys49Met) c.317A>T (p.Lys106Met) c.2432A>T (p.Lys811Met) | |
2 | g.26477435T>C | CA346123101 | OTOF | c.2387A>G (p.Lys796Arg) c.146A>G (p.Lys49Arg) c.317A>G (p.Lys106Arg) c.2432A>G (p.Lys811Arg) | |
2 | g.26477435T>G | CA346123093 | OTOF | c.2387A>C (p.Lys796Thr) c.146A>C (p.Lys49Thr) c.317A>C (p.Lys106Thr) c.2432A>C (p.Lys811Thr) | |
2 | g.26477436T>A | CA346123104 | OTOF | c.2386A>T (p.Lys796Ter) c.145A>T (p.Lys49Ter) c.316A>T (p.Lys106Ter) c.2431A>T (p.Lys811Ter) | |
2 | g.26477436T>C | CA346123106 | OTOF | c.2386A>G (p.Lys796Glu) c.145A>G (p.Lys49Glu) c.316A>G (p.Lys106Glu) c.2431A>G (p.Lys811Glu) | gnomAD v4 |
2 | g.26477436T>G | CA346123108 | OTOF | c.2386A>C (p.Lys796Gln) c.145A>C (p.Lys49Gln) c.316A>C (p.Lys106Gln) c.2431A>C (p.Lys811Gln) | |
2 | g.26477437G>A | CA425360061 | OTOF | c.2385C>T (p.Leu795=) c.144C>T (p.Leu48=) c.315C>T (p.Leu105=) c.2430C>T (p.Leu810=) | gnomAD v4 |
2 | g.26477437G>C | CA425360062 | OTOF | c.2385C>G (p.Leu795=) c.144C>G (p.Leu48=) c.315C>G (p.Leu105=) c.2430C>G (p.Leu810=) | |
2 | g.26477437G>T | CA425360063 | OTOF | c.2385C>A (p.Leu795=) c.144C>A (p.Leu48=) c.315C>A (p.Leu105=) c.2430C>A (p.Leu810=) | gnomAD v4 |
2 | g.26477438_26477440del | CA2698921354 | OTOF | c.2383_2385del (p.Leu795del) c.142_144del (p.Leu48del) c.313_315del (p.Leu105del) c.2428_2430del (p.Leu810del) | dbSNP |
2 | g.26477438A>C | CA346123111 | OTOF | c.2384T>G (p.Leu795Arg) c.143T>G (p.Leu48Arg) c.314T>G (p.Leu105Arg) c.2429T>G (p.Leu810Arg) | |
2 | g.26477438A>G | CA346123115 | OTOF | c.2384T>C (p.Leu795Pro) c.143T>C (p.Leu48Pro) c.314T>C (p.Leu105Pro) c.2429T>C (p.Leu810Pro) | gnomAD v4 |
2 | g.26477438A>T | CA346123119 | OTOF | c.2384T>A (p.Leu795His) c.143T>A (p.Leu48His) c.314T>A (p.Leu105His) c.2429T>A (p.Leu810His) | gnomAD v4 |
2 | g.26477439G>A | CA346123123 | OTOF | c.2383C>T (p.Leu795Phe) c.142C>T (p.Leu48Phe) c.313C>T (p.Leu105Phe) c.2428C>T (p.Leu810Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.26477439G>C | CA346123126 | OTOF | c.2383C>G (p.Leu795Val) c.142C>G (p.Leu48Val) c.313C>G (p.Leu105Val) c.2428C>G (p.Leu810Val) | gnomAD v4 |
2 | g.26477439G>T | CA346123129 | OTOF | c.2383C>A (p.Leu795Ile) c.142C>A (p.Leu48Ile) c.313C>A (p.Leu105Ile) c.2428C>A (p.Leu810Ile) | |
2 | g.26477440del | CA2586968837 | OTOF | c.2383del (p.Leu795SerfsTer5) c.142del (p.Leu48SerfsTer5) c.313del (p.Leu105SerfsTer5) c.2428del (p.Leu810SerfsTer5) | |
2 | g.26477440G>A | CA425360069 | OTOF | c.2382C>T (p.Arg794=) c.141C>T (p.Arg47=) c.312C>T (p.Arg104=) c.2427C>T (p.Arg809=) | gnomAD v4 |
2 | g.26477440G>C | CA425360072 | OTOF | c.2382C>G (p.Arg794=) c.141C>G (p.Arg47=) c.312C>G (p.Arg104=) c.2427C>G (p.Arg809=) | |
2 | g.26477440G>T | CA425360068 | OTOF | c.2382C>A (p.Arg794=) c.141C>A (p.Arg47=) c.312C>A (p.Arg104=) c.2427C>A (p.Arg809=) | |
2 | g.26477441C>A | CA346123134 | OTOF | c.2381G>T (p.Arg794Leu) c.140G>T (p.Arg47Leu) c.311G>T (p.Arg104Leu) c.2426G>T (p.Arg809Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477441C= | CA1239830073 | OTOF | c.2381G= (p.Arg794=) c.140G= (p.Arg47=) c.311G= (p.Arg104=) c.2426G= (p.Arg809=) | |
2 | g.26477441C>G | CA346123137 | OTOF | c.2381G>C (p.Arg794Pro) c.140G>C (p.Arg47Pro) c.311G>C (p.Arg104Pro) c.2426G>C (p.Arg809Pro) | |
2 | g.26477441C>T | CA142799 | OTOF | c.2381G>A (p.Arg794His) c.140G>A (p.Arg47His) c.311G>A (p.Arg104His) c.2426G>A (p.Arg809His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477442G>A | CA1563938 | OTOF | c.2380C>T (p.Arg794Cys) c.139C>T (p.Arg47Cys) c.310C>T (p.Arg104Cys) c.2425C>T (p.Arg809Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477442G>C | CA346123143 | OTOF | c.2380C>G (p.Arg794Gly) c.139C>G (p.Arg47Gly) c.310C>G (p.Arg104Gly) c.2425C>G (p.Arg809Gly) | |
2 | g.26477442G= | CA1239830078 | OTOF | c.2380C= (p.Arg794=) c.139C= (p.Arg47=) c.310C= (p.Arg104=) c.2425C= (p.Arg809=) | |
2 | g.26477442G>T | CA346123145 | OTOF | c.2380C>A (p.Arg794Ser) c.139C>A (p.Arg47Ser) c.310C>A (p.Arg104Ser) c.2425C>A (p.Arg809Ser) | gnomAD v4 |
2 | g.26477443C>A | CA346123150 | OTOF | c.2379G>T (p.Glu793Asp) c.138G>T (p.Glu46Asp) c.309G>T (p.Glu103Asp) c.2424G>T (p.Glu808Asp) | |
2 | g.26477443C= | CA1239830080 | OTOF | c.2379G= (p.Glu793=) c.138G= (p.Glu46=) c.309G= (p.Glu103=) c.2424G= (p.Glu808=) | |
2 | g.26477443C>G | CA346123154 | OTOF | c.2379G>C (p.Glu793Asp) c.138G>C (p.Glu46Asp) c.309G>C (p.Glu103Asp) c.2424G>C (p.Glu808Asp) | |
2 | g.26477443C>T | CA425359969 | OTOF | c.2379G>A (p.Glu793=) c.138G>A (p.Glu46=) c.309G>A (p.Glu103=) c.2424G>A (p.Glu808=) | dbSNP gnomAD v2 |
2 | g.26477444T>A | CA346123159 | OTOF | c.2378A>T (p.Glu793Val) c.137A>T (p.Glu46Val) c.308A>T (p.Glu103Val) c.2423A>T (p.Glu808Val) | |
2 | g.26477444T>C | CA346123161 | OTOF | c.2378A>G (p.Glu793Gly) c.137A>G (p.Glu46Gly) c.308A>G (p.Glu103Gly) c.2423A>G (p.Glu808Gly) | gnomAD v4 |
2 | g.26477444T>G | CA346123163 | OTOF | c.2378A>C (p.Glu793Ala) c.137A>C (p.Glu46Ala) c.308A>C (p.Glu103Ala) c.2423A>C (p.Glu808Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477444T= | CA1239830082 | OTOF | c.2378A= (p.Glu793=) c.137A= (p.Glu46=) c.308A= (p.Glu103=) c.2423A= (p.Glu808=) | |
2 | g.26477445C>A | CA346123167 | OTOF | c.2377G>T (p.Glu793Ter) c.136G>T (p.Glu46Ter) c.307G>T (p.Glu103Ter) c.2422G>T (p.Glu808Ter) | ClinVar gnomAD v4 |
2 | g.26477445C= | CA1239830084 | OTOF | c.2377G= (p.Glu793=) c.136G= (p.Glu46=) c.307G= (p.Glu103=) c.2422G= (p.Glu808=) | |
2 | g.26477445C>G | CA346123169 | OTOF | c.2377G>C (p.Glu793Gln) c.136G>C (p.Glu46Gln) c.307G>C (p.Glu103Gln) c.2422G>C (p.Glu808Gln) | dbSNP |
2 | g.26477445C>T | CA346123171 | OTOF | c.2377G>A (p.Glu793Lys) c.136G>A (p.Glu46Lys) c.307G>A (p.Glu103Lys) c.2422G>A (p.Glu808Lys) | |
2 | g.26477447del | CA2658238000 | OTOF | c.2377del (p.Glu793SerfsTer7) c.136del (p.Glu46SerfsTer7) c.307del (p.Glu103SerfsTer7) c.2422del (p.Glu808SerfsTer7) | gnomAD v4 |
2 | g.26477446C>A | CA425359974 | OTOF | c.2376G>T (p.Arg792=) c.135G>T (p.Arg45=) c.306G>T (p.Arg102=) c.2421G>T (p.Arg807=) | gnomAD v4 |
2 | g.26477446C= | CA1239830088 | OTOF | c.2376G= (p.Arg792=) c.135G= (p.Arg45=) c.306G= (p.Arg102=) c.2421G= (p.Arg807=) | |
2 | g.26477446C>G | CA425359975 | OTOF | c.2376G>C (p.Arg792=) c.135G>C (p.Arg45=) c.306G>C (p.Arg102=) c.2421G>C (p.Arg807=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477446C>T | CA44398485 | OTOF | c.2376G>A (p.Arg792=) c.135G>A (p.Arg45=) c.306G>A (p.Arg102=) c.2421G>A (p.Arg807=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477447C>A | CA346123178 | OTOF | c.2375G>T (p.Arg792Leu) c.134G>T (p.Arg45Leu) c.305G>T (p.Arg102Leu) c.2420G>T (p.Arg807Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477447C= | CA1239830094 | OTOF | c.2375G= (p.Arg792=) c.134G= (p.Arg45=) c.305G= (p.Arg102=) c.2420G= (p.Arg807=) | |
2 | g.26477447C>G | CA1563939 | OTOF | c.2375G>C (p.Arg792Pro) c.134G>C (p.Arg45Pro) c.305G>C (p.Arg102Pro) c.2420G>C (p.Arg807Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477447C>T | CA142795 | OTOF | c.2375G>A (p.Arg792Gln) c.134G>A (p.Arg45Gln) c.305G>A (p.Arg102Gln) c.2420G>A (p.Arg807Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477448G>A | CA177552 | OTOF | c.2374C>T (p.Arg792Trp) c.133C>T (p.Arg45Trp) c.304C>T (p.Arg102Trp) c.2419C>T (p.Arg807Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477448G>C | CA346123196 | OTOF | c.2374C>G (p.Arg792Gly) c.133C>G (p.Arg45Gly) c.304C>G (p.Arg102Gly) c.2419C>G (p.Arg807Gly) | |
2 | g.26477448G= | CA1239830099 | OTOF | c.2374C= (p.Arg792=) c.133C= (p.Arg45=) c.304C= (p.Arg102=) c.2419C= (p.Arg807=) | |
2 | g.26477448G>T | CA425359976 | OTOF | c.2374C>A (p.Arg792=) c.133C>A (p.Arg45=) c.304C>A (p.Arg102=) c.2419C>A (p.Arg807=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477449G>A | CA425359977 | OTOF | c.2373C>T (p.Asp791=) c.132C>T (p.Asp44=) c.303C>T (p.Asp101=) c.2418C>T (p.Asp806=) | gnomAD v4 |
2 | g.26477449G>C | CA346123201 | OTOF | c.2373C>G (p.Asp791Glu) c.132C>G (p.Asp44Glu) c.303C>G (p.Asp101Glu) c.2418C>G (p.Asp806Glu) | |
2 | g.26477449G>T | CA346123203 | OTOF | c.2373C>A (p.Asp791Glu) c.132C>A (p.Asp44Glu) c.303C>A (p.Asp101Glu) c.2418C>A (p.Asp806Glu) | gnomAD v4 |
2 | g.26477450T>A | CA346123206 | OTOF | c.2372A>T (p.Asp791Val) c.131A>T (p.Asp44Val) c.302A>T (p.Asp101Val) c.2417A>T (p.Asp806Val) | |
2 | g.26477450T>C | CA346123207 | OTOF | c.2372A>G (p.Asp791Gly) c.131A>G (p.Asp44Gly) c.302A>G (p.Asp101Gly) c.2417A>G (p.Asp806Gly) | gnomAD v4 |
2 | g.26477450T>G | CA346123209 | OTOF | c.2372A>C (p.Asp791Ala) c.131A>C (p.Asp44Ala) c.302A>C (p.Asp101Ala) c.2417A>C (p.Asp806Ala) | |
2 | g.26477451C>A | CA346123212 | OTOF | c.2371G>T (p.Asp791Tyr) c.130G>T (p.Asp44Tyr) c.301G>T (p.Asp101Tyr) c.2416G>T (p.Asp806Tyr) | gnomAD v4 |
2 | g.26477451C= | CA1239830103 | OTOF | c.2371G= (p.Asp791=) c.130G= (p.Asp44=) c.301G= (p.Asp101=) c.2416G= (p.Asp806=) | |
2 | g.26477451C>G | CA346123214 | OTOF | c.2371G>C (p.Asp791His) c.130G>C (p.Asp44His) c.301G>C (p.Asp101His) c.2416G>C (p.Asp806His) | |
2 | g.26477451C>T | CA346123217 | OTOF | c.2371G>A (p.Asp791Asn) c.130G>A (p.Asp44Asn) c.301G>A (p.Asp101Asn) c.2416G>A (p.Asp806Asn) | gnomAD v4 |
2 | g.26477451_26477452insT | CA262044 | OTOF | c.2370_2371insA (p.Asp791ArgfsTer?) c.129_130insA (p.Asp44ArgfsTer?) c.300_301insA (p.Asp101ArgfsTer?) c.2415_2416insA (p.Asp806ArgfsTer?) | ClinVar dbSNP |
2 | g.26477452A>C | CA425359980 | OTOF | c.2370T>G (p.Leu790=) c.129T>G (p.Leu43=) c.300T>G (p.Leu100=) c.2415T>G (p.Leu805=) | |
2 | g.26477452A>G | CA425359981 | OTOF | c.2370T>C (p.Leu790=) c.129T>C (p.Leu43=) c.300T>C (p.Leu100=) c.2415T>C (p.Leu805=) | gnomAD v4 |
2 | g.26477452A>T | CA425359983 | OTOF | c.2370T>A (p.Leu790=) c.129T>A (p.Leu43=) c.300T>A (p.Leu100=) c.2415T>A (p.Leu805=) | ClinVar |
2 | g.26477453A>C | CA346123224 | OTOF | c.2369T>G (p.Leu790Arg) c.128T>G (p.Leu43Arg) c.299T>G (p.Leu100Arg) c.2414T>G (p.Leu805Arg) | gnomAD v4 |
2 | g.26477453A>G | CA346123226 | OTOF | c.2369T>C (p.Leu790Pro) c.128T>C (p.Leu43Pro) c.299T>C (p.Leu100Pro) c.2414T>C (p.Leu805Pro) | |
2 | g.26477453A>T | CA346123228 | OTOF | c.2369T>A (p.Leu790His) c.128T>A (p.Leu43His) c.299T>A (p.Leu100His) c.2414T>A (p.Leu805His) | |
2 | g.26477454G>A | CA346123232 | OTOF | c.2368C>T (p.Leu790Phe) c.127C>T (p.Leu43Phe) c.298C>T (p.Leu100Phe) c.2413C>T (p.Leu805Phe) | gnomAD v4 |
2 | g.26477454G>C | CA346123236 | OTOF | c.2368C>G (p.Leu790Val) c.127C>G (p.Leu43Val) c.298C>G (p.Leu100Val) c.2413C>G (p.Leu805Val) | |
2 | g.26477454G>T | CA346123238 | OTOF | c.2368C>A (p.Leu790Ile) c.127C>A (p.Leu43Ile) c.298C>A (p.Leu100Ile) c.2413C>A (p.Leu805Ile) | gnomAD v4 |
2 | g.26477455C>A | CA346123241 | OTOF | c.2367G>T (p.Arg789Ser) c.126G>T (p.Arg42Ser) c.297G>T (p.Arg99Ser) c.2412G>T (p.Arg804Ser) | gnomAD v4 |
2 | g.26477455C= | CA1239830110 | OTOF | c.2367G= (p.Arg789=) c.126G= (p.Arg42=) c.297G= (p.Arg99=) c.2412G= (p.Arg804=) | |
2 | g.26477455C>G | CA346123244 | OTOF | c.2367G>C (p.Arg789Ser) c.126G>C (p.Arg42Ser) c.297G>C (p.Arg99Ser) c.2412G>C (p.Arg804Ser) | |
2 | g.26477455C>T | CA44398499 | OTOF | c.2367G>A (p.Arg789=) c.126G>A (p.Arg42=) c.297G>A (p.Arg99=) c.2412G>A (p.Arg804=) | dbSNP gnomAD v4 |
2 | g.26477456C>A | CA346123247 | OTOF | c.2366G>T (p.Arg789Met) c.125G>T (p.Arg42Met) c.296G>T (p.Arg99Met) c.2411G>T (p.Arg804Met) | gnomAD v4 |
2 | g.26477456C>G | CA346123249 | OTOF | c.2366G>C (p.Arg789Thr) c.125G>C (p.Arg42Thr) c.296G>C (p.Arg99Thr) c.2411G>C (p.Arg804Thr) | |
2 | g.26477456C>T | CA346123251 | OTOF | c.2366G>A (p.Arg789Lys) c.125G>A (p.Arg42Lys) c.296G>A (p.Arg99Lys) c.2411G>A (p.Arg804Lys) | |
2 | g.26477457T>A | CA346123253 | OTOF | c.2365A>T (p.Arg789Trp) c.124A>T (p.Arg42Trp) c.295A>T (p.Arg99Trp) c.2410A>T (p.Arg804Trp) | gnomAD v4 |
2 | g.26477457T>C | CA346123256 | OTOF | c.2365A>G (p.Arg789Gly) c.124A>G (p.Arg42Gly) c.295A>G (p.Arg99Gly) c.2410A>G (p.Arg804Gly) | gnomAD v4 |
2 | g.26477457T>G | CA425359988 | OTOF | c.2365A>C (p.Arg789=) c.124A>C (p.Arg42=) c.295A>C (p.Arg99=) c.2410A>C (p.Arg804=) | |
2 | g.26477458G>A | CA1563940 | OTOF | c.2364C>T (p.Thr788=) c.123C>T (p.Thr41=) c.294C>T (p.Thr98=) c.2409C>T (p.Thr803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477458G>C | CA425359989 | OTOF | c.2364C>G (p.Thr788=) c.123C>G (p.Thr41=) c.294C>G (p.Thr98=) c.2409C>G (p.Thr803=) | |
2 | g.26477458G= | CA1239830113 | OTOF | c.2364C= (p.Thr788=) c.123C= (p.Thr41=) c.294C= (p.Thr98=) c.2409C= (p.Thr803=) | |
2 | g.26477458G>T | CA425359990 | OTOF | c.2364C>A (p.Thr788=) c.123C>A (p.Thr41=) c.294C>A (p.Thr98=) c.2409C>A (p.Thr803=) | gnomAD v4 |
2 | g.26477459G>A | CA346123259 | OTOF | c.2363C>T (p.Thr788Ile) c.122C>T (p.Thr41Ile) c.293C>T (p.Thr98Ile) c.2408C>T (p.Thr803Ile) | dbSNP |
2 | g.26477459G>C | CA346123260 | OTOF | c.2363C>G (p.Thr788Ser) c.122C>G (p.Thr41Ser) c.293C>G (p.Thr98Ser) c.2408C>G (p.Thr803Ser) | |
2 | g.26477459G= | CA1239830114 | OTOF | c.2363C= (p.Thr788=) c.122C= (p.Thr41=) c.293C= (p.Thr98=) c.2408C= (p.Thr803=) | |
2 | g.26477459G>T | CA346123261 | OTOF | c.2363C>A (p.Thr788Asn) c.122C>A (p.Thr41Asn) c.293C>A (p.Thr98Asn) c.2408C>A (p.Thr803Asn) | |
2 | g.26477460T>A | CA346123263 | OTOF | c.2362A>T (p.Thr788Ser) c.121A>T (p.Thr41Ser) c.292A>T (p.Thr98Ser) c.2407A>T (p.Thr803Ser) | |
2 | g.26477460T>C | CA346123267 | OTOF | c.2362A>G (p.Thr788Ala) c.121A>G (p.Thr41Ala) c.292A>G (p.Thr98Ala) c.2407A>G (p.Thr803Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477460T>G | CA346123269 | OTOF | c.2362A>C (p.Thr788Pro) c.121A>C (p.Thr41Pro) c.292A>C (p.Thr98Pro) c.2407A>C (p.Thr803Pro) | gnomAD v4 |
2 | g.26477460T= | CA1239830118 | OTOF | c.2362A= (p.Thr788=) c.121A= (p.Thr41=) c.292A= (p.Thr98=) c.2407A= (p.Thr803=) | |
2 | g.26477461G>A | CA1563941 | OTOF | c.2361C>T (p.Arg787=) c.120C>T (p.Arg40=) c.291C>T (p.Arg97=) c.2406C>T (p.Arg802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477461G>C | CA425359993 | OTOF | c.2361C>G (p.Arg787=) c.120C>G (p.Arg40=) c.291C>G (p.Arg97=) c.2406C>G (p.Arg802=) | |
2 | g.26477461G= | CA1239830120 | OTOF | c.2361C= (p.Arg787=) c.120C= (p.Arg40=) c.291C= (p.Arg97=) c.2406C= (p.Arg802=) | |
2 | g.26477461G>T | CA425359992 | OTOF | c.2361C>A (p.Arg787=) c.120C>A (p.Arg40=) c.291C>A (p.Arg97=) c.2406C>A (p.Arg802=) | gnomAD v4 |
2 | g.26477462C>A | CA346123274 | OTOF | c.2360G>T (p.Arg787Leu) c.119G>T (p.Arg40Leu) c.290G>T (p.Arg97Leu) c.2405G>T (p.Arg802Leu) | gnomAD v4 |
2 | g.26477462C= | CA1239830123 | OTOF | c.2360G= (p.Arg787=) c.119G= (p.Arg40=) c.290G= (p.Arg97=) c.2405G= (p.Arg802=) | |
2 | g.26477462C>G | CA346123279 | OTOF | c.2360G>C (p.Arg787Pro) c.119G>C (p.Arg40Pro) c.290G>C (p.Arg97Pro) c.2405G>C (p.Arg802Pro) | |
2 | g.26477462C>T | CA44398509 | OTOF | c.2360G>A (p.Arg787His) c.119G>A (p.Arg40His) c.290G>A (p.Arg97His) c.2405G>A (p.Arg802His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |