Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26477580_26477592del | CA2658238202 | OTOF | c.2315+57_2315+69del (n.2315+57_2315+69del) c.74+57_74+69del (n.74+57_74+69del) c.245+57_245+69del (n.245+57_245+69del) c.2360+57_2360+69del (n.2360+57_2360+69del) | gnomAD v4 |
2 | g.26477585G>A | CA2658238214 | OTOF | c.2315+64C>T (n.2315+64C>T) c.74+64C>T (n.74+64C>T) c.245+64C>T (n.245+64C>T) c.2360+64C>T (n.2360+64C>T) | gnomAD v4 |
2 | g.26477585G>C | CA2658238215 | OTOF | c.2315+64C>G (n.2315+64C>G) c.74+64C>G (n.74+64C>G) c.245+64C>G (n.245+64C>G) c.2360+64C>G (n.2360+64C>G) | gnomAD v4 |
2 | g.26477587C= | CA1239830333 | OTOF | c.2315+62G= (n.2315+62G=) c.74+62G= (n.74+62G=) c.245+62G= (n.245+62G=) c.2360+62G= (n.2360+62G=) | |
2 | g.26477587C>T | CA44398605 | OTOF | c.2315+62G>A (n.2315+62G>A) c.74+62G>A (n.74+62G>A) c.245+62G>A (n.245+62G>A) c.2360+62G>A (n.2360+62G>A) | dbSNP gnomAD v4 |
2 | g.26477588A>C | CA2658238217 | OTOF | c.2315+61T>G (n.2315+61T>G) c.74+61T>G (n.74+61T>G) c.245+61T>G (n.245+61T>G) c.2360+61T>G (n.2360+61T>G) | gnomAD v4 |
2 | g.26477588A>T | CA2749240630 | OTOF | c.2315+61T>A (n.2315+61T>A) c.74+61T>A (n.74+61T>A) c.245+61T>A (n.245+61T>A) c.2360+61T>A (n.2360+61T>A) | |
2 | g.26477589G>A | CA1239830335 | OTOF | c.2315+60C>T (n.2315+60C>T) c.74+60C>T (n.74+60C>T) c.245+60C>T (n.245+60C>T) c.2360+60C>T (n.2360+60C>T) | dbSNP |
2 | g.26477589G>C | CA1028608410 | OTOF | c.2315+60C>G (n.2315+60C>G) c.74+60C>G (n.74+60C>G) c.245+60C>G (n.245+60C>G) c.2360+60C>G (n.2360+60C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477589G= | CA1239830334 | OTOF | c.2315+60C= (n.2315+60C=) c.74+60C= (n.74+60C=) c.245+60C= (n.245+60C=) c.2360+60C= (n.2360+60C=) | |
2 | g.26477589G>T | CA2576699518 | OTOF | c.2315+60C>A (n.2315+60C>A) c.74+60C>A (n.74+60C>A) c.245+60C>A (n.245+60C>A) c.2360+60C>A (n.2360+60C>A) | gnomAD v4 |
2 | g.26477590G>T | CA2658238220 | OTOF | c.2315+59C>A (n.2315+59C>A) c.74+59C>A (n.74+59C>A) c.245+59C>A (n.245+59C>A) c.2360+59C>A (n.2360+59C>A) | gnomAD v4 |
2 | g.26477591G>A | CA767285573 | OTOF | c.2315+58C>T (n.2315+58C>T) c.74+58C>T (n.74+58C>T) c.245+58C>T (n.245+58C>T) c.2360+58C>T (n.2360+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477591G= | CA1239830337 | OTOF | c.2315+58C= (n.2315+58C=) c.74+58C= (n.74+58C=) c.245+58C= (n.245+58C=) c.2360+58C= (n.2360+58C=) | |
2 | g.26477591G>T | CA2658238222 | OTOF | c.2315+58C>A (n.2315+58C>A) c.74+58C>A (n.74+58C>A) c.245+58C>A (n.245+58C>A) c.2360+58C>A (n.2360+58C>A) | gnomAD v4 |
2 | g.26477592T>G | CA1239830340 | OTOF | c.2315+57A>C (n.2315+57A>C) c.74+57A>C (n.74+57A>C) c.245+57A>C (n.245+57A>C) c.2360+57A>C (n.2360+57A>C) | dbSNP |
2 | g.26477592T= | CA1239830339 | OTOF | c.2315+57A= (n.2315+57A=) c.74+57A= (n.74+57A=) c.245+57A= (n.245+57A=) c.2360+57A= (n.2360+57A=) | |
2 | g.26477592_26477595delinsTCCC | CA1239830338 | OTOF | c.2315+54_2315+57delinsGGGA (n.2315+54_2315+57delinsGGGA) c.74+54_74+57delinsGGGA (n.74+54_74+57delinsGGGA) c.245+54_245+57delinsGGGA (n.245+54_245+57delinsGGGA) c.2360+54_2360+57delinsGGGA (n.2360+54_2360+57delinsGGGA) | |
2 | g.26477596del | CA767285574 | OTOF | c.2315+56del (n.2315+56del) c.74+56del (n.74+56del) c.245+56del (n.245+56del) c.2360+56del (n.2360+56del) | dbSNP |
2 | g.26477594_26477596del | CA1239830341 | OTOF | c.2315+54_2315+56del (n.2315+54_2315+56del) c.74+54_74+56del (n.74+54_74+56del) c.245+54_245+56del (n.245+54_245+56del) c.2360+54_2360+56del (n.2360+54_2360+56del) | dbSNP |
2 | g.26477594C>A | CA2658238223 | OTOF | c.2315+55G>T (n.2315+55G>T) c.74+55G>T (n.74+55G>T) c.245+55G>T (n.245+55G>T) c.2360+55G>T (n.2360+55G>T) | gnomAD v4 |
2 | g.26477594C>T | CA2576699519 | OTOF | c.2315+55G>A (n.2315+55G>A) c.74+55G>A (n.74+55G>A) c.245+55G>A (n.245+55G>A) c.2360+55G>A (n.2360+55G>A) | gnomAD v4 |
2 | g.26477595C>T | CA2658238224 | OTOF | c.2315+54G>A (n.2315+54G>A) c.74+54G>A (n.74+54G>A) c.245+54G>A (n.245+54G>A) c.2360+54G>A (n.2360+54G>A) | gnomAD v4 |
2 | g.26477601T>C | CA2658238225 | OTOF | c.2315+48A>G (n.2315+48A>G) c.74+48A>G (n.74+48A>G) c.245+48A>G (n.245+48A>G) c.2360+48A>G (n.2360+48A>G) | gnomAD v4 |
2 | g.26477603C= | CA1239830342 | OTOF | c.2315+46G= (n.2315+46G=) c.74+46G= (n.74+46G=) c.245+46G= (n.245+46G=) c.2360+46G= (n.2360+46G=) | |
2 | g.26477603C>T | CA767285578 | OTOF | c.2315+46G>A (n.2315+46G>A) c.74+46G>A (n.74+46G>A) c.245+46G>A (n.245+46G>A) c.2360+46G>A (n.2360+46G>A) | dbSNP gnomAD v4 |
2 | g.26477604A>G | CA2658238228 | OTOF | c.2315+45T>C (n.2315+45T>C) c.74+45T>C (n.74+45T>C) c.245+45T>C (n.245+45T>C) c.2360+45T>C (n.2360+45T>C) | gnomAD v4 |
2 | g.26477605G>A | CA44398607 | OTOF | c.2315+44C>T (n.2315+44C>T) c.74+44C>T (n.74+44C>T) c.245+44C>T (n.245+44C>T) c.2360+44C>T (n.2360+44C>T) | dbSNP gnomAD v4 |
2 | g.26477605G>C | CA1028608412 | OTOF | c.2315+44C>G (n.2315+44C>G) c.74+44C>G (n.74+44C>G) c.245+44C>G (n.245+44C>G) c.2360+44C>G (n.2360+44C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477605G= | CA1239830343 | OTOF | c.2315+44C= (n.2315+44C=) c.74+44C= (n.74+44C=) c.245+44C= (n.245+44C=) c.2360+44C= (n.2360+44C=) | |
2 | g.26477609C>A | CA2658238229 | OTOF | c.2315+40G>T (n.2315+40G>T) c.74+40G>T (n.74+40G>T) c.245+40G>T (n.245+40G>T) c.2360+40G>T (n.2360+40G>T) | gnomAD v4 |
2 | g.26477609C= | CA1239830344 | OTOF | c.2315+40G= (n.2315+40G=) c.74+40G= (n.74+40G=) c.245+40G= (n.245+40G=) c.2360+40G= (n.2360+40G=) | |
2 | g.26477609C>G | CA1239830345 | OTOF | c.2315+40G>C (n.2315+40G>C) c.74+40G>C (n.74+40G>C) c.245+40G>C (n.245+40G>C) c.2360+40G>C (n.2360+40G>C) | dbSNP |
2 | g.26477609C>T | CA1563962 | OTOF | c.2315+40G>A (n.2315+40G>A) c.74+40G>A (n.74+40G>A) c.245+40G>A (n.245+40G>A) c.2360+40G>A (n.2360+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477610G>A | CA1563963 | OTOF | c.2315+39C>T (n.2315+39C>T) c.74+39C>T (n.74+39C>T) c.245+39C>T (n.245+39C>T) c.2360+39C>T (n.2360+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26477610G= | CA1239830346 | OTOF | c.2315+39C= (n.2315+39C=) c.74+39C= (n.74+39C=) c.245+39C= (n.245+39C=) c.2360+39C= (n.2360+39C=) | |
2 | g.26477612C>T | CA2576699520 | OTOF | c.2315+37G>A (n.2315+37G>A) c.74+37G>A (n.74+37G>A) c.245+37G>A (n.245+37G>A) c.2360+37G>A (n.2360+37G>A) | gnomAD v4 |
2 | g.26477615A= | CA1239830347 | OTOF | c.2315+34T= (n.2315+34T=) c.74+34T= (n.74+34T=) c.245+34T= (n.245+34T=) c.2360+34T= (n.2360+34T=) | |
2 | g.26477615A>C | CA767285601 | OTOF | c.2315+34T>G (n.2315+34T>G) c.74+34T>G (n.74+34T>G) c.245+34T>G (n.245+34T>G) c.2360+34T>G (n.2360+34T>G) | dbSNP gnomAD v4 |
2 | g.26477615A>G | CA2576699521 | OTOF | c.2315+34T>C (n.2315+34T>C) c.74+34T>C (n.74+34T>C) c.245+34T>C (n.245+34T>C) c.2360+34T>C (n.2360+34T>C) | gnomAD v4 |
2 | g.26477616T>C | CA2576699522 | OTOF | c.2315+33A>G (n.2315+33A>G) c.74+33A>G (n.74+33A>G) c.245+33A>G (n.245+33A>G) c.2360+33A>G (n.2360+33A>G) | |
2 | g.26477618C>A | CA2658238233 | OTOF | c.2315+31G>T (n.2315+31G>T) c.74+31G>T (n.74+31G>T) c.245+31G>T (n.245+31G>T) c.2360+31G>T (n.2360+31G>T) | gnomAD v4 |
2 | g.26477618C>T | CA2576699523 | OTOF | c.2315+31G>A (n.2315+31G>A) c.74+31G>A (n.74+31G>A) c.245+31G>A (n.245+31G>A) c.2360+31G>A (n.2360+31G>A) | |
2 | g.26477619_26477620delinsTC | CA1239830348 | OTOF | c.2315+29_2315+30delinsGA (n.2315+29_2315+30delinsGA) c.74+29_74+30delinsGA (n.74+29_74+30delinsGA) c.245+29_245+30delinsGA (n.245+29_245+30delinsGA) c.2360+29_2360+30delinsGA (n.2360+29_2360+30delinsGA) | |
2 | g.26477620C>A | CA531761911 | OTOF | c.2315+29G>T (n.2315+29G>T) c.74+29G>T (n.74+29G>T) c.245+29G>T (n.245+29G>T) c.2360+29G>T (n.2360+29G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477620C= | CA1239830349 | OTOF | c.2315+29G= (n.2315+29G=) c.74+29G= (n.74+29G=) c.245+29G= (n.245+29G=) c.2360+29G= (n.2360+29G=) | |
2 | g.26477620C>G | CA2658238236 | OTOF | c.2315+29G>C (n.2315+29G>C) c.74+29G>C (n.74+29G>C) c.245+29G>C (n.245+29G>C) c.2360+29G>C (n.2360+29G>C) | gnomAD v4 |
2 | g.26477620C>T | CA1563964 | OTOF | c.2315+29G>A (n.2315+29G>A) c.74+29G>A (n.74+29G>A) c.245+29G>A (n.245+29G>A) c.2360+29G>A (n.2360+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477625dup | CA531761910 | OTOF | c.2315+29dup (n.2315+29dup) c.74+29dup (n.74+29dup) c.245+29dup (n.245+29dup) c.2360+29dup (n.2360+29dup) | gnomAD v2 gnomAD v4 |
2 | g.26477625del | CA531761909 | OTOF | c.2315+29del (n.2315+29del) c.74+29del (n.74+29del) c.245+29del (n.245+29del) c.2360+29del (n.2360+29del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477621C= | CA1239830352 | OTOF | c.2315+28G= (n.2315+28G=) c.74+28G= (n.74+28G=) c.245+28G= (n.245+28G=) c.2360+28G= (n.2360+28G=) | |
2 | g.26477621C>T | CA1028608420 | OTOF | c.2315+28G>A (n.2315+28G>A) c.74+28G>A (n.74+28G>A) c.245+28G>A (n.245+28G>A) c.2360+28G>A (n.2360+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477622C= | CA1239830353 | OTOF | c.2315+27G= (n.2315+27G=) c.74+27G= (n.74+27G=) c.245+27G= (n.245+27G=) c.2360+27G= (n.2360+27G=) | |
2 | g.26477622C>T | CA531761912 | OTOF | c.2315+27G>A (n.2315+27G>A) c.74+27G>A (n.74+27G>A) c.245+27G>A (n.245+27G>A) c.2360+27G>A (n.2360+27G>A) | dbSNP gnomAD v2 |
2 | g.26477623C>A | CA531761913 | OTOF | c.2315+26G>T (n.2315+26G>T) c.74+26G>T (n.74+26G>T) c.245+26G>T (n.245+26G>T) c.2360+26G>T (n.2360+26G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477623C= | CA1239830354 | OTOF | c.2315+26G= (n.2315+26G=) c.74+26G= (n.74+26G=) c.245+26G= (n.245+26G=) c.2360+26G= (n.2360+26G=) | |
2 | g.26477623C>G | CA2658238239 | OTOF | c.2315+26G>C (n.2315+26G>C) c.74+26G>C (n.74+26G>C) c.245+26G>C (n.245+26G>C) c.2360+26G>C (n.2360+26G>C) | gnomAD v4 |
2 | g.26477623C>T | CA2658238238 | OTOF | c.2315+26G>A (n.2315+26G>A) c.74+26G>A (n.74+26G>A) c.245+26G>A (n.245+26G>A) c.2360+26G>A (n.2360+26G>A) | gnomAD v4 |
2 | g.26477624C>A | CA1563965 | OTOF | c.2315+25G>T (n.2315+25G>T) c.74+25G>T (n.74+25G>T) c.245+25G>T (n.245+25G>T) c.2360+25G>T (n.2360+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477624C= | CA1239830356 | OTOF | c.2315+25G= (n.2315+25G=) c.74+25G= (n.74+25G=) c.245+25G= (n.245+25G=) c.2360+25G= (n.2360+25G=) | |
2 | g.26477624C>G | CA44398622 | OTOF | c.2315+25G>C (n.2315+25G>C) c.74+25G>C (n.74+25G>C) c.245+25G>C (n.245+25G>C) c.2360+25G>C (n.2360+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477625C>A | CA1563968 | OTOF | c.2315+24G>T (n.2315+24G>T) c.74+24G>T (n.74+24G>T) c.245+24G>T (n.245+24G>T) c.2360+24G>T (n.2360+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477625C= | CA1239830358 | OTOF | c.2315+24G= (n.2315+24G=) c.74+24G= (n.74+24G=) c.245+24G= (n.245+24G=) c.2360+24G= (n.2360+24G=) | |
2 | g.26477625C>G | CA1563967 | OTOF | c.2315+24G>C (n.2315+24G>C) c.74+24G>C (n.74+24G>C) c.245+24G>C (n.245+24G>C) c.2360+24G>C (n.2360+24G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477625C>T | CA1563966 | OTOF | c.2315+24G>A (n.2315+24G>A) c.74+24G>A (n.74+24G>A) c.245+24G>A (n.245+24G>A) c.2360+24G>A (n.2360+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477626A= | CA1239830360 | OTOF | c.2315+23T= (n.2315+23T=) c.74+23T= (n.74+23T=) c.245+23T= (n.245+23T=) c.2360+23T= (n.2360+23T=) | |
2 | g.26477626A>C | CA1028608431 | OTOF | c.2315+23T>G (n.2315+23T>G) c.74+23T>G (n.74+23T>G) c.245+23T>G (n.245+23T>G) c.2360+23T>G (n.2360+23T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477626A>G | CA531761914 | OTOF | c.2315+23T>C (n.2315+23T>C) c.74+23T>C (n.74+23T>C) c.245+23T>C (n.245+23T>C) c.2360+23T>C (n.2360+23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477626_26477627delinsAC | CA1239830361 | OTOF | c.2315+22_2315+23delinsGT (n.2315+22_2315+23delinsGT) c.74+22_74+23delinsGT (n.74+22_74+23delinsGT) c.245+22_245+23delinsGT (n.245+22_245+23delinsGT) c.2360+22_2360+23delinsGT (n.2360+22_2360+23delinsGT) | |
2 | g.26477627C>A | CA2749240631 | OTOF | c.2315+22G>T (n.2315+22G>T) c.74+22G>T (n.74+22G>T) c.245+22G>T (n.245+22G>T) c.2360+22G>T (n.2360+22G>T) | |
2 | g.26477627C= | CA1239830362 | OTOF | c.2315+22G= (n.2315+22G=) c.74+22G= (n.74+22G=) c.245+22G= (n.245+22G=) c.2360+22G= (n.2360+22G=) | |
2 | g.26477627C>G | CA531761916 | OTOF | c.2315+22G>C (n.2315+22G>C) c.74+22G>C (n.74+22G>C) c.245+22G>C (n.245+22G>C) c.2360+22G>C (n.2360+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477627C>T | CA2658238246 | OTOF | c.2315+22G>A (n.2315+22G>A) c.74+22G>A (n.74+22G>A) c.245+22G>A (n.245+22G>A) c.2360+22G>A (n.2360+22G>A) | gnomAD v4 |
2 | g.26477628del | CA531761915 | OTOF | c.2315+22del (n.2315+22del) c.74+22del (n.74+22del) c.245+22del (n.245+22del) c.2360+22del (n.2360+22del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477629T>C | CA531761917 | OTOF | c.2315+20A>G (n.2315+20A>G) c.74+20A>G (n.74+20A>G) c.245+20A>G (n.245+20A>G) c.2360+20A>G (n.2360+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477629T= | CA1239830364 | OTOF | c.2315+20A= (n.2315+20A=) c.74+20A= (n.74+20A=) c.245+20A= (n.245+20A=) c.2360+20A= (n.2360+20A=) | |
2 | g.26477630G>A | CA1563969 | OTOF | c.2315+19C>T (n.2315+19C>T) c.74+19C>T (n.74+19C>T) c.245+19C>T (n.245+19C>T) c.2360+19C>T (n.2360+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477630G= | CA1239830366 | OTOF | c.2315+19C= (n.2315+19C=) c.74+19C= (n.74+19C=) c.245+19C= (n.245+19C=) c.2360+19C= (n.2360+19C=) | |
2 | g.26477633_26477635del | CA2658238248 | OTOF | c.2315+17_2315+19del (n.2315+17_2315+19del) c.74+17_74+19del (n.74+17_74+19del) c.245+17_245+19del (n.245+17_245+19del) c.2360+17_2360+19del (n.2360+17_2360+19del) | gnomAD v4 |
2 | g.26477631C>A | CA1563970 | OTOF | c.2315+18G>T (n.2315+18G>T) c.74+18G>T (n.74+18G>T) c.245+18G>T (n.245+18G>T) c.2360+18G>T (n.2360+18G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477631C= | CA1239830367 | OTOF | c.2315+18G= (n.2315+18G=) c.74+18G= (n.74+18G=) c.245+18G= (n.245+18G=) c.2360+18G= (n.2360+18G=) | |
2 | g.26477632C>A | CA531761918 | OTOF | c.2315+17G>T (n.2315+17G>T) c.74+17G>T (n.74+17G>T) c.245+17G>T (n.245+17G>T) c.2360+17G>T (n.2360+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477632C= | CA1239830369 | OTOF | c.2315+17G= (n.2315+17G=) c.74+17G= (n.74+17G=) c.245+17G= (n.245+17G=) c.2360+17G= (n.2360+17G=) | |
2 | g.26477632C>T | CA1563971 | OTOF | c.2315+17G>A (n.2315+17G>A) c.74+17G>A (n.74+17G>A) c.245+17G>A (n.245+17G>A) c.2360+17G>A (n.2360+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477633G>A | CA1563972 | OTOF | c.2315+16C>T (n.2315+16C>T) c.74+16C>T (n.74+16C>T) c.245+16C>T (n.245+16C>T) c.2360+16C>T (n.2360+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477633G>C | CA1028608438 | OTOF | c.2315+16C>G (n.2315+16C>G) c.74+16C>G (n.74+16C>G) c.245+16C>G (n.245+16C>G) c.2360+16C>G (n.2360+16C>G) | gnomAD v3 gnomAD v4 |
2 | g.26477633G= | CA1239830371 | OTOF | c.2315+16C= (n.2315+16C=) c.74+16C= (n.74+16C=) c.245+16C= (n.245+16C=) c.2360+16C= (n.2360+16C=) | |
2 | g.26477633G>T | CA531761919 | OTOF | c.2315+16C>A (n.2315+16C>A) c.74+16C>A (n.74+16C>A) c.245+16C>A (n.245+16C>A) c.2360+16C>A (n.2360+16C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477634C>G | CA2576699524 | OTOF | c.2315+15G>C (n.2315+15G>C) c.74+15G>C (n.74+15G>C) c.245+15G>C (n.245+15G>C) c.2360+15G>C (n.2360+15G>C) | |
2 | g.26477634C>T | CA2658238252 | OTOF | c.2315+15G>A (n.2315+15G>A) c.74+15G>A (n.74+15G>A) c.245+15G>A (n.245+15G>A) c.2360+15G>A (n.2360+15G>A) | gnomAD v4 |
2 | g.26477635C>T | CA2550145963 | OTOF | c.2315+14G>A (n.2315+14G>A) c.74+14G>A (n.74+14G>A) c.245+14G>A (n.245+14G>A) c.2360+14G>A (n.2360+14G>A) | |
2 | g.26477638T>C | CA2576699525 | OTOF | c.2315+11A>G (n.2315+11A>G) c.74+11A>G (n.74+11A>G) c.245+11A>G (n.245+11A>G) c.2360+11A>G (n.2360+11A>G) | |
2 | g.26477638T>G | CA2698921592 | OTOF | c.2315+11A>C (n.2315+11A>C) c.74+11A>C (n.74+11A>C) c.245+11A>C (n.245+11A>C) c.2360+11A>C (n.2360+11A>C) | dbSNP |
2 | g.26477639C>T | CA2658238253 | OTOF | c.2315+10G>A (n.2315+10G>A) c.74+10G>A (n.74+10G>A) c.245+10G>A (n.245+10G>A) c.2360+10G>A (n.2360+10G>A) | gnomAD v4 |
2 | g.26477640C>T | CA2658238254 | OTOF | c.2315+9G>A (n.2315+9G>A) c.74+9G>A (n.74+9G>A) c.245+9G>A (n.245+9G>A) c.2360+9G>A (n.2360+9G>A) | ClinVar gnomAD v4 |
2 | g.26477641C>T | CA2658238255 | OTOF | c.2315+8G>A (n.2315+8G>A) c.74+8G>A (n.74+8G>A) c.245+8G>A (n.245+8G>A) c.2360+8G>A (n.2360+8G>A) | gnomAD v4 |
2 | g.26477644C= | CA1239830373 | OTOF | c.2315+5G= (n.2315+5G=) c.74+5G= (n.74+5G=) c.245+5G= (n.245+5G=) c.2360+5G= (n.2360+5G=) | |
2 | g.26477644C>T | CA44398644 | OTOF | c.2315+5G>A (n.2315+5G>A) c.74+5G>A (n.74+5G>A) c.245+5G>A (n.245+5G>A) c.2360+5G>A (n.2360+5G>A) | dbSNP gnomAD v4 |
2 | g.26477646C>T | CA2594511719 | OTOF | c.2315+3G>A (n.2315+3G>A) c.74+3G>A (n.74+3G>A) c.245+3G>A (n.245+3G>A) c.2360+3G>A (n.2360+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477647A>C | CA346123462 | OTOF | c.2315+2T>G (n.2315+2T>G) c.74+2T>G (n.74+2T>G) c.245+2T>G (n.245+2T>G) c.2360+2T>G (n.2360+2T>G) | |
2 | g.26477647A>G | CA346123470 | OTOF | c.2315+2T>C (n.2315+2T>C) c.74+2T>C (n.74+2T>C) c.245+2T>C (n.245+2T>C) c.2360+2T>C (n.2360+2T>C) | |
2 | g.26477647A>T | CA346123471 | OTOF | c.2315+2T>A (n.2315+2T>A) c.74+2T>A (n.74+2T>A) c.245+2T>A (n.245+2T>A) c.2360+2T>A (n.2360+2T>A) | |
2 | g.26477648C>A | CA44398647 | OTOF | c.2315+1G>T (n.2315+1G>T) c.74+1G>T (n.74+1G>T) c.245+1G>T (n.245+1G>T) c.2360+1G>T (n.2360+1G>T) | dbSNP |
2 | g.26477648C= | CA1239830375 | OTOF | c.2315+1G= (n.2315+1G=) c.74+1G= (n.74+1G=) c.245+1G= (n.245+1G=) c.2360+1G= (n.2360+1G=) | |
2 | g.26477648C>G | CA346123474 | OTOF | c.2315+1G>C (n.2315+1G>C) c.74+1G>C (n.74+1G>C) c.245+1G>C (n.245+1G>C) c.2360+1G>C (n.2360+1G>C) | |
2 | g.26477648C>T | CA346123477 | OTOF | c.2315+1G>A (n.2315+1G>A) c.74+1G>A (n.74+1G>A) c.245+1G>A (n.245+1G>A) c.2360+1G>A (n.2360+1G>A) | |
2 | g.26477649C>A | CA346123485 | OTOF | c.2315G>T (p.Cys772Phe) c.74G>T (p.Cys25Phe) c.245G>T (p.Cys82Phe) c.2360G>T (p.Cys787Phe) | |
2 | g.26477649C>G | CA346123509 | OTOF | c.2315G>C (p.Cys772Ser) c.74G>C (p.Cys25Ser) c.245G>C (p.Cys82Ser) c.2360G>C (p.Cys787Ser) | |
2 | g.26477649C>T | CA346123512 | OTOF | c.2315G>A (p.Cys772Tyr) c.74G>A (p.Cys25Tyr) c.245G>A (p.Cys82Tyr) c.2360G>A (p.Cys787Tyr) | |
2 | g.26477650A= | CA1239830377 | OTOF | c.2314T= (p.Cys772=) c.73T= (p.Cys25=) c.244T= (p.Cys82=) c.2359T= (p.Cys787=) | |
2 | g.26477650A>C | CA346123517 | OTOF | c.2314T>G (p.Cys772Gly) c.73T>G (p.Cys25Gly) c.244T>G (p.Cys82Gly) c.2359T>G (p.Cys787Gly) | |
2 | g.26477650A>G | CA1563973 | OTOF | c.2314T>C (p.Cys772Arg) c.73T>C (p.Cys25Arg) c.244T>C (p.Cys82Arg) c.2359T>C (p.Cys787Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477650A>T | CA346123522 | OTOF | c.2314T>A (p.Cys772Ser) c.73T>A (p.Cys25Ser) c.244T>A (p.Cys82Ser) c.2359T>A (p.Cys787Ser) | |
2 | g.26477651G>A | CA425360086 | OTOF | c.2313C>T (p.Cys771=) c.72C>T (p.Cys24=) c.243C>T (p.Cys81=) c.2358C>T (p.Cys786=) | |
2 | g.26477651G>C | CA346123533 | OTOF | c.2313C>G (p.Cys771Trp) c.72C>G (p.Cys24Trp) c.243C>G (p.Cys81Trp) c.2358C>G (p.Cys786Trp) | |
2 | g.26477651G>T | CA346123536 | OTOF | c.2313C>A (p.Cys771Ter) c.72C>A (p.Cys24Ter) c.243C>A (p.Cys81Ter) c.2358C>A (p.Cys786Ter) | |
2 | g.26477652C>A | CA346123546 | OTOF | c.2312G>T (p.Cys771Phe) c.71G>T (p.Cys24Phe) c.242G>T (p.Cys81Phe) c.2357G>T (p.Cys786Phe) | dbSNP COSMIC COSMIC COSMIC |
2 | g.26477652C= | CA1239830379 | OTOF | c.2312G= (p.Cys771=) c.71G= (p.Cys24=) c.242G= (p.Cys81=) c.2357G= (p.Cys786=) | |
2 | g.26477652C>G | CA346123549 | OTOF | c.2312G>C (p.Cys771Ser) c.71G>C (p.Cys24Ser) c.242G>C (p.Cys81Ser) c.2357G>C (p.Cys786Ser) | |
2 | g.26477652C>T | CA346123552 | OTOF | c.2312G>A (p.Cys771Tyr) c.71G>A (p.Cys24Tyr) c.242G>A (p.Cys81Tyr) c.2357G>A (p.Cys786Tyr) | |
2 | g.26477653A>C | CA346123556 | OTOF | c.2311T>G (p.Cys771Gly) c.70T>G (p.Cys24Gly) c.241T>G (p.Cys81Gly) c.2356T>G (p.Cys786Gly) | |
2 | g.26477653A>G | CA346123557 | OTOF | c.2311T>C (p.Cys771Arg) c.70T>C (p.Cys24Arg) c.241T>C (p.Cys81Arg) c.2356T>C (p.Cys786Arg) | |
2 | g.26477653A>T | CA346123554 | OTOF | c.2311T>A (p.Cys771Ser) c.70T>A (p.Cys24Ser) c.241T>A (p.Cys81Ser) c.2356T>A (p.Cys786Ser) | |
2 | g.26477654G>A | CA425360091 | OTOF | c.2310C>T (p.Gly770=) c.69C>T (p.Gly23=) c.240C>T (p.Gly80=) c.2355C>T (p.Gly785=) | gnomAD v4 |
2 | g.26477654G>C | CA425360092 | OTOF | c.2310C>G (p.Gly770=) c.69C>G (p.Gly23=) c.240C>G (p.Gly80=) c.2355C>G (p.Gly785=) | gnomAD v4 |
2 | g.26477654G>T | CA425360090 | OTOF | c.2310C>A (p.Gly770=) c.69C>A (p.Gly23=) c.240C>A (p.Gly80=) c.2355C>A (p.Gly785=) | dbSNP |
2 | g.26477655C>A | CA346123558 | OTOF | c.2309G>T (p.Gly770Val) c.68G>T (p.Gly23Val) c.239G>T (p.Gly80Val) c.2354G>T (p.Gly785Val) | gnomAD v4 |
2 | g.26477655C= | CA1239830381 | OTOF | c.2309G= (p.Gly770=) c.68G= (p.Gly23=) c.239G= (p.Gly80=) c.2354G= (p.Gly785=) | |
2 | g.26477655C>G | CA346123559 | OTOF | c.2309G>C (p.Gly770Ala) c.68G>C (p.Gly23Ala) c.239G>C (p.Gly80Ala) c.2354G>C (p.Gly785Ala) | gnomAD v4 |
2 | g.26477655C>T | CA346123560 | OTOF | c.2309G>A (p.Gly770Asp) c.68G>A (p.Gly23Asp) c.239G>A (p.Gly80Asp) c.2354G>A (p.Gly785Asp) | dbSNP |
2 | g.26477656C>A | CA346123562 | OTOF | c.2308G>T (p.Gly770Cys) c.67G>T (p.Gly23Cys) c.238G>T (p.Gly80Cys) c.2353G>T (p.Gly785Cys) | |
2 | g.26477656C>G | CA346123563 | OTOF | c.2308G>C (p.Gly770Arg) c.67G>C (p.Gly23Arg) c.238G>C (p.Gly80Arg) c.2353G>C (p.Gly785Arg) | |
2 | g.26477656C>T | CA346123564 | OTOF | c.2308G>A (p.Gly770Ser) c.67G>A (p.Gly23Ser) c.238G>A (p.Gly80Ser) c.2353G>A (p.Gly785Ser) | |
2 | g.26477657A>C | CA346123566 | OTOF | c.2307T>G (p.Cys769Trp) c.66T>G (p.Cys22Trp) c.237T>G (p.Cys79Trp) c.2352T>G (p.Cys784Trp) | |
2 | g.26477657A>G | CA425360093 | OTOF | c.2307T>C (p.Cys769=) c.66T>C (p.Cys22=) c.237T>C (p.Cys79=) c.2352T>C (p.Cys784=) | |
2 | g.26477657A>T | CA346123567 | OTOF | c.2307T>A (p.Cys769Ter) c.66T>A (p.Cys22Ter) c.237T>A (p.Cys79Ter) c.2352T>A (p.Cys784Ter) | |
2 | g.26477658C>A | CA346123568 | OTOF | c.2306G>T (p.Cys769Phe) c.65G>T (p.Cys22Phe) c.236G>T (p.Cys79Phe) c.2351G>T (p.Cys784Phe) | |
2 | g.26477658C>G | CA346123569 | OTOF | c.2306G>C (p.Cys769Ser) c.65G>C (p.Cys22Ser) c.236G>C (p.Cys79Ser) c.2351G>C (p.Cys784Ser) | |
2 | g.26477658C>T | CA346123570 | OTOF | c.2306G>A (p.Cys769Tyr) c.65G>A (p.Cys22Tyr) c.236G>A (p.Cys79Tyr) c.2351G>A (p.Cys784Tyr) | gnomAD v4 |
2 | g.26477659A>C | CA346123573 | OTOF | c.2305T>G (p.Cys769Gly) c.64T>G (p.Cys22Gly) c.235T>G (p.Cys79Gly) c.2350T>G (p.Cys784Gly) | |
2 | g.26477659A>G | CA346123575 | OTOF | c.2305T>C (p.Cys769Arg) c.64T>C (p.Cys22Arg) c.235T>C (p.Cys79Arg) c.2350T>C (p.Cys784Arg) | |
2 | g.26477659A>T | CA346123571 | OTOF | c.2305T>A (p.Cys769Ser) c.64T>A (p.Cys22Ser) c.235T>A (p.Cys79Ser) c.2350T>A (p.Cys784Ser) | |
2 | g.26477660G>A | CA425360098 | OTOF | c.2304C>T (p.Ser768=) c.63C>T (p.Ser21=) c.234C>T (p.Ser78=) c.2349C>T (p.Ser783=) | |
2 | g.26477660G>C | CA346123577 | OTOF | c.2304C>G (p.Ser768Arg) c.63C>G (p.Ser21Arg) c.234C>G (p.Ser78Arg) c.2349C>G (p.Ser783Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26477660G= | CA1239830383 | OTOF | c.2304C= (p.Ser768=) c.63C= (p.Ser21=) c.234C= (p.Ser78=) c.2349C= (p.Ser783=) | |
2 | g.26477660G>T | CA346123580 | OTOF | c.2304C>A (p.Ser768Arg) c.63C>A (p.Ser21Arg) c.234C>A (p.Ser78Arg) c.2349C>A (p.Ser783Arg) | |
2 | g.26477661C>A | CA346123583 | OTOF | c.2303G>T (p.Ser768Ile) c.62G>T (p.Ser21Ile) c.233G>T (p.Ser78Ile) c.2348G>T (p.Ser783Ile) | |
2 | g.26477661C= | CA1239830384 | OTOF | c.2303G= (p.Ser768=) c.62G= (p.Ser21=) c.233G= (p.Ser78=) c.2348G= (p.Ser783=) | |
2 | g.26477661C>G | CA346123584 | OTOF | c.2303G>C (p.Ser768Thr) c.62G>C (p.Ser21Thr) c.233G>C (p.Ser78Thr) c.2348G>C (p.Ser783Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477661C>T | CA346123585 | OTOF | c.2303G>A (p.Ser768Asn) c.62G>A (p.Ser21Asn) c.233G>A (p.Ser78Asn) c.2348G>A (p.Ser783Asn) | |
2 | g.26477662T>A | CA346123588 | OTOF | c.2302A>T (p.Ser768Cys) c.61A>T (p.Ser21Cys) c.232A>T (p.Ser78Cys) c.2347A>T (p.Ser783Cys) | |
2 | g.26477662T>C | CA346123586 | OTOF | c.2302A>G (p.Ser768Gly) c.61A>G (p.Ser21Gly) c.232A>G (p.Ser78Gly) c.2347A>G (p.Ser783Gly) | |
2 | g.26477662T>G | CA346123587 | OTOF | c.2302A>C (p.Ser768Arg) c.61A>C (p.Ser21Arg) c.232A>C (p.Ser78Arg) c.2347A>C (p.Ser783Arg) | |
2 | g.26477662_26477664delinsTCA | CA1239830385 | OTOF | c.2300_2302delinsTGA (p.Leu767=) c.59_61delinsTGA (p.Leu20=) c.230_232delinsTGA (p.Leu77=) c.2345_2347delinsTGA (p.Leu782=) | |
2 | g.26477663C>A | CA425360100 | OTOF | c.2301G>T (p.Leu767=) c.60G>T (p.Leu20=) c.231G>T (p.Leu77=) c.2346G>T (p.Leu782=) | |
2 | g.26477663C>G | CA425360101 | OTOF | c.2301G>C (p.Leu767=) c.60G>C (p.Leu20=) c.231G>C (p.Leu77=) c.2346G>C (p.Leu782=) | COSMIC COSMIC COSMIC |
2 | g.26477663C>T | CA425360102 | OTOF | c.2301G>A (p.Leu767=) c.60G>A (p.Leu20=) c.231G>A (p.Leu77=) c.2346G>A (p.Leu782=) | |
2 | g.26477663_26477664del | CA1563974 | OTOF | c.2300_2301del (p.Leu767GlnfsTer12) c.59_60del (p.Leu20GlnfsTer12) c.230_231del (p.Leu77GlnfsTer12) c.2345_2346del (p.Leu782GlnfsTer12) | ClinVar dbSNP ExAC |
2 | g.26477664A>C | CA346123589 | OTOF | c.2300T>G (p.Leu767Arg) c.59T>G (p.Leu20Arg) c.230T>G (p.Leu77Arg) c.2345T>G (p.Leu782Arg) | |
2 | g.26477664A>G | CA346123590 | OTOF | c.2300T>C (p.Leu767Pro) c.59T>C (p.Leu20Pro) c.230T>C (p.Leu77Pro) c.2345T>C (p.Leu782Pro) | gnomAD v4 |
2 | g.26477664A>T | CA346123592 | OTOF | c.2300T>A (p.Leu767Gln) c.59T>A (p.Leu20Gln) c.230T>A (p.Leu77Gln) c.2345T>A (p.Leu782Gln) | |
2 | g.26477665G>A | CA425360103 | OTOF | c.2299C>T (p.Leu767=) c.58C>T (p.Leu20=) c.229C>T (p.Leu77=) c.2344C>T (p.Leu782=) | ClinVar gnomAD v4 |
2 | g.26477665G>C | CA346123594 | OTOF | c.2299C>G (p.Leu767Val) c.58C>G (p.Leu20Val) c.229C>G (p.Leu77Val) c.2344C>G (p.Leu782Val) | gnomAD v4 |
2 | g.26477665G>T | CA346123598 | OTOF | c.2299C>A (p.Leu767Met) c.58C>A (p.Leu20Met) c.229C>A (p.Leu77Met) c.2344C>A (p.Leu782Met) | |
2 | g.26477666C>A | CA346123601 | OTOF | c.2298G>T (p.Glu766Asp) c.57G>T (p.Glu19Asp) c.228G>T (p.Glu76Asp) c.2343G>T (p.Glu781Asp) | |
2 | g.26477666C>G | CA346123599 | OTOF | c.2298G>C (p.Glu766Asp) c.57G>C (p.Glu19Asp) c.228G>C (p.Glu76Asp) c.2343G>C (p.Glu781Asp) | |
2 | g.26477666C>T | CA425360104 | OTOF | c.2298G>A (p.Glu766=) c.57G>A (p.Glu19=) c.228G>A (p.Glu76=) c.2343G>A (p.Glu781=) | |
2 | g.26477670_26477672del | CA2586968839 | OTOF | c.2296_2298del (p.Glu766del) c.55_57del (p.Glu19del) c.226_228del (p.Glu76del) c.2341_2343del (p.Glu781del) | |
2 | g.26477667T>A | CA346123602 | OTOF | c.2297A>T (p.Glu766Val) c.56A>T (p.Glu19Val) c.227A>T (p.Glu76Val) c.2342A>T (p.Glu781Val) | |
2 | g.26477667T>C | CA346123606 | OTOF | c.2297A>G (p.Glu766Gly) c.56A>G (p.Glu19Gly) c.227A>G (p.Glu76Gly) c.2342A>G (p.Glu781Gly) | |
2 | g.26477667T>G | CA346123603 | OTOF | c.2297A>C (p.Glu766Ala) c.56A>C (p.Glu19Ala) c.227A>C (p.Glu76Ala) c.2342A>C (p.Glu781Ala) | |
2 | g.26477668C>A | CA346123607 | OTOF | c.2296G>T (p.Glu766Ter) c.55G>T (p.Glu19Ter) c.226G>T (p.Glu76Ter) c.2341G>T (p.Glu781Ter) | gnomAD v4 |
2 | g.26477668C>G | CA346123608 | OTOF | c.2296G>C (p.Glu766Gln) c.55G>C (p.Glu19Gln) c.226G>C (p.Glu76Gln) c.2341G>C (p.Glu781Gln) | |
2 | g.26477668C>T | CA346123612 | OTOF | c.2296G>A (p.Glu766Lys) c.55G>A (p.Glu19Lys) c.226G>A (p.Glu76Lys) c.2341G>A (p.Glu781Lys) | |
2 | g.26477669del | CA2658238257 | OTOF | c.2296del (p.Glu766SerfsTer2) c.55del (p.Glu19SerfsTer2) c.226del (p.Glu76SerfsTer2) c.2341del (p.Glu781SerfsTer2) | gnomAD v4 |
2 | g.26477669C>A | CA346123615 | OTOF | c.2295G>T (p.Glu765Asp) c.54G>T (p.Glu18Asp) c.225G>T (p.Glu75Asp) c.2340G>T (p.Glu780Asp) | |
2 | g.26477669C= | CA1239830388 | OTOF | c.2295G= (p.Glu765=) c.54G= (p.Glu18=) c.225G= (p.Glu75=) c.2340G= (p.Glu780=) | |
2 | g.26477669C>G | CA346123619 | OTOF | c.2295G>C (p.Glu765Asp) c.54G>C (p.Glu18Asp) c.225G>C (p.Glu75Asp) c.2340G>C (p.Glu780Asp) | |
2 | g.26477669C>T | CA1563975 | OTOF | c.2295G>A (p.Glu765=) c.54G>A (p.Glu18=) c.225G>A (p.Glu75=) c.2340G>A (p.Glu780=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477670T>A | CA346123620 | OTOF | c.2294A>T (p.Glu765Val) c.53A>T (p.Glu18Val) c.224A>T (p.Glu75Val) c.2339A>T (p.Glu780Val) | |
2 | g.26477670T>C | CA346123622 | OTOF | c.2294A>G (p.Glu765Gly) c.53A>G (p.Glu18Gly) c.224A>G (p.Glu75Gly) c.2339A>G (p.Glu780Gly) | |
2 | g.26477670T>G | CA346123623 | OTOF | c.2294A>C (p.Glu765Ala) c.53A>C (p.Glu18Ala) c.224A>C (p.Glu75Ala) c.2339A>C (p.Glu780Ala) | |
2 | g.26477671C>A | CA346123625 | OTOF | c.2293G>T (p.Glu765Ter) c.52G>T (p.Glu18Ter) c.223G>T (p.Glu75Ter) c.2338G>T (p.Glu780Ter) | |
2 | g.26477671C>G | CA346123627 | OTOF | c.2293G>C (p.Glu765Gln) c.52G>C (p.Glu18Gln) c.223G>C (p.Glu75Gln) c.2338G>C (p.Glu780Gln) | |
2 | g.26477671C>T | CA346123629 | OTOF | c.2293G>A (p.Glu765Lys) c.52G>A (p.Glu18Lys) c.223G>A (p.Glu75Lys) c.2338G>A (p.Glu780Lys) | gnomAD v4 |
2 | g.26477672C>A | CA425360106 | OTOF | c.2292G>T (p.Leu764=) c.51G>T (p.Leu17=) c.222G>T (p.Leu74=) c.2337G>T (p.Leu779=) | |
2 | g.26477672C= | CA1239830390 | OTOF | c.2292G= (p.Leu764=) c.51G= (p.Leu17=) c.222G= (p.Leu74=) c.2337G= (p.Leu779=) | |
2 | g.26477672C>G | CA425360107 | OTOF | c.2292G>C (p.Leu764=) c.51G>C (p.Leu17=) c.222G>C (p.Leu74=) c.2337G>C (p.Leu779=) | |
2 | g.26477672C>T | CA1563976 | OTOF | c.2292G>A (p.Leu764=) c.51G>A (p.Leu17=) c.222G>A (p.Leu74=) c.2337G>A (p.Leu779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477673A= | CA1239830393 | OTOF | c.2291T= (p.Leu764=) c.50T= (p.Leu17=) c.221T= (p.Leu74=) c.2336T= (p.Leu779=) | |
2 | g.26477673A>C | CA1563977 | OTOF | c.2291T>G (p.Leu764Arg) c.50T>G (p.Leu17Arg) c.221T>G (p.Leu74Arg) c.2336T>G (p.Leu779Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477673A>G | CA346123633 | OTOF | c.2291T>C (p.Leu764Pro) c.50T>C (p.Leu17Pro) c.221T>C (p.Leu74Pro) c.2336T>C (p.Leu779Pro) | |
2 | g.26477673A>T | CA346123632 | OTOF | c.2291T>A (p.Leu764Gln) c.50T>A (p.Leu17Gln) c.221T>A (p.Leu74Gln) c.2336T>A (p.Leu779Gln) | |
2 | g.26477674G>A | CA44398675 | OTOF | c.2290C>T (p.Leu764=) c.49C>T (p.Leu17=) c.220C>T (p.Leu74=) c.2335C>T (p.Leu779=) | dbSNP gnomAD v4 |
2 | g.26477674G>C | CA346123635 | OTOF | c.2290C>G (p.Leu764Val) c.49C>G (p.Leu17Val) c.220C>G (p.Leu74Val) c.2335C>G (p.Leu779Val) | |
2 | g.26477674G= | CA1239830395 | OTOF | c.2290C= (p.Leu764=) c.49C= (p.Leu17=) c.220C= (p.Leu74=) c.2335C= (p.Leu779=) | |
2 | g.26477674G>T | CA346123640 | OTOF | c.2290C>A (p.Leu764Met) c.49C>A (p.Leu17Met) c.220C>A (p.Leu74Met) c.2335C>A (p.Leu779Met) | |
2 | g.26477675G>A | CA425360109 | OTOF | c.2289C>T (p.Val763=) c.48C>T (p.Val16=) c.219C>T (p.Val73=) c.2334C>T (p.Val778=) | |
2 | g.26477675G>C | CA425360108 | OTOF | c.2289C>G (p.Val763=) c.48C>G (p.Val16=) c.219C>G (p.Val73=) c.2334C>G (p.Val778=) | |
2 | g.26477675G>T | CA425360110 | OTOF | c.2289C>A (p.Val763=) c.48C>A (p.Val16=) c.219C>A (p.Val73=) c.2334C>A (p.Val778=) | |
2 | g.26477676A= | CA1239830397 | OTOF | c.2288T= (p.Val763=) c.47T= (p.Val16=) c.218T= (p.Val73=) c.2333T= (p.Val778=) | |
2 | g.26477676A>C | CA346123643 | OTOF | c.2288T>G (p.Val763Gly) c.47T>G (p.Val16Gly) c.218T>G (p.Val73Gly) c.2333T>G (p.Val778Gly) | |
2 | g.26477676A>G | CA44398679 | OTOF | c.2288T>C (p.Val763Ala) c.47T>C (p.Val16Ala) c.218T>C (p.Val73Ala) c.2333T>C (p.Val778Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26477676A>T | CA346123644 | OTOF | c.2288T>A (p.Val763Asp) c.47T>A (p.Val16Asp) c.218T>A (p.Val73Asp) c.2333T>A (p.Val778Asp) | dbSNP gnomAD v4 |
2 | g.26477677del | CA2740257660 | OTOF | c.2287del (p.Val763SerfsTer5) c.46del (p.Val16SerfsTer5) c.217del (p.Val73SerfsTer5) c.2332del (p.Val778SerfsTer5) | |
2 | g.26477677C>A | CA1563979 | OTOF | c.2287G>T (p.Val763Phe) c.46G>T (p.Val16Phe) c.217G>T (p.Val73Phe) c.2332G>T (p.Val778Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477677C= | CA1239830399 | OTOF | c.2287G= (p.Val763=) c.46G= (p.Val16=) c.217G= (p.Val73=) c.2332G= (p.Val778=) | |
2 | g.26477677C>G | CA346123650 | OTOF | c.2287G>C (p.Val763Leu) c.46G>C (p.Val16Leu) c.217G>C (p.Val73Leu) c.2332G>C (p.Val778Leu) | |
2 | g.26477677C>T | CA1563978 | OTOF | c.2287G>A (p.Val763Ile) c.46G>A (p.Val16Ile) c.217G>A (p.Val73Ile) c.2332G>A (p.Val778Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477678G>A | CA1563981 | OTOF | c.2286C>T (p.Gly762=) c.45C>T (p.Gly15=) c.216C>T (p.Gly72=) c.2331C>T (p.Gly777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477678G>C | CA1563980 | OTOF | c.2286C>G (p.Gly762=) c.45C>G (p.Gly15=) c.216C>G (p.Gly72=) c.2331C>G (p.Gly777=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26477678G= | CA1239830403 | OTOF | c.2286C= (p.Gly762=) c.45C= (p.Gly15=) c.216C= (p.Gly72=) c.2331C= (p.Gly777=) | |
2 | g.26477678G>T | CA425360111 | OTOF | c.2286C>A (p.Gly762=) c.45C>A (p.Gly15=) c.216C>A (p.Gly72=) c.2331C>A (p.Gly777=) | |
2 | g.26477679C>A | CA346123672 | OTOF | c.2285G>T (p.Gly762Val) c.44G>T (p.Gly15Val) c.215G>T (p.Gly72Val) c.2330G>T (p.Gly777Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477679C= | CA1239830404 | OTOF | c.2285G= (p.Gly762=) c.44G= (p.Gly15=) c.215G= (p.Gly72=) c.2330G= (p.Gly777=) | |
2 | g.26477679C>G | CA346123669 | OTOF | c.2285G>C (p.Gly762Ala) c.44G>C (p.Gly15Ala) c.215G>C (p.Gly72Ala) c.2330G>C (p.Gly777Ala) | |
2 | g.26477679C>T | CA346123666 | OTOF | c.2285G>A (p.Gly762Asp) c.44G>A (p.Gly15Asp) c.215G>A (p.Gly72Asp) c.2330G>A (p.Gly777Asp) | gnomAD v4 |
2 | g.26477680C>A | CA346123676 | OTOF | c.2284G>T (p.Gly762Cys) c.43G>T (p.Gly15Cys) c.214G>T (p.Gly72Cys) c.2329G>T (p.Gly777Cys) | gnomAD v4 |
2 | g.26477680C>G | CA346123679 | OTOF | c.2284G>C (p.Gly762Arg) c.43G>C (p.Gly15Arg) c.214G>C (p.Gly72Arg) c.2329G>C (p.Gly777Arg) | |
2 | g.26477680C>T | CA346123684 | OTOF | c.2284G>A (p.Gly762Ser) c.43G>A (p.Gly15Ser) c.214G>A (p.Gly72Ser) c.2329G>A (p.Gly777Ser) | gnomAD v4 |
2 | g.26477681C>A | CA425360112 | OTOF | c.2283G>T (p.Arg761=) c.42G>T (p.Arg14=) c.213G>T (p.Arg71=) c.2328G>T (p.Arg776=) | gnomAD v4 |
2 | g.26477681C>G | CA425360113 | OTOF | c.2283G>C (p.Arg761=) c.42G>C (p.Arg14=) c.213G>C (p.Arg71=) c.2328G>C (p.Arg776=) | |
2 | g.26477681C>T | CA425360114 | OTOF | c.2283G>A (p.Arg761=) c.42G>A (p.Arg14=) c.213G>A (p.Arg71=) c.2328G>A (p.Arg776=) | |
2 | g.26477682C>A | CA346123686 | OTOF | c.2282G>T (p.Arg761Leu) c.41G>T (p.Arg14Leu) c.212G>T (p.Arg71Leu) c.2327G>T (p.Arg776Leu) | |
2 | g.26477682C= | CA1239830406 | OTOF | c.2282G= (p.Arg761=) c.41G= (p.Arg14=) c.212G= (p.Arg71=) c.2327G= (p.Arg776=) | |
2 | g.26477682C>G | CA346123687 | OTOF | c.2282G>C (p.Arg761Pro) c.41G>C (p.Arg14Pro) c.212G>C (p.Arg71Pro) c.2327G>C (p.Arg776Pro) | |
2 | g.26477682C>T | CA1563982 | OTOF | c.2282G>A (p.Arg761Gln) c.41G>A (p.Arg14Gln) c.212G>A (p.Arg71Gln) c.2327G>A (p.Arg776Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477683G>A | CA1563983 | OTOF | c.2281C>T (p.Arg761Trp) c.40C>T (p.Arg14Trp) c.211C>T (p.Arg71Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26477683G>C | CA346123691 | OTOF | c.2281C>G (p.Arg761Gly) c.40C>G (p.Arg14Gly) c.211C>G (p.Arg71Gly) c.2326C>G (p.Arg776Gly) | COSMIC COSMIC COSMIC |
2 | g.26477683G= | CA1239830408 | OTOF | c.2281C= (p.Arg761=) c.40C= (p.Arg14=) c.211C= (p.Arg71=) c.2326C= (p.Arg776=) | |
2 | g.26477683G>T | CA425360115 | OTOF | c.2281C>A (p.Arg761=) c.40C>A (p.Arg14=) c.211C>A (p.Arg71=) c.2326C>A (p.Arg776=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26477684C>A | CA425360116 | OTOF | c.2280G>T (p.Leu760=) c.39G>T (p.Leu13=) c.210G>T (p.Leu70=) c.2325G>T (p.Leu775=) | |
2 | g.26477684C>G | CA425360117 | OTOF | c.2280G>C (p.Leu760=) c.39G>C (p.Leu13=) c.210G>C (p.Leu70=) c.2325G>C (p.Leu775=) | |
2 | g.26477684C>T | CA425360119 | OTOF | c.2280G>A (p.Leu760=) c.39G>A (p.Leu13=) c.210G>A (p.Leu70=) c.2325G>A (p.Leu775=) | |
2 | g.26477685A>C | CA346123693 | OTOF | c.2279T>G (p.Leu760Arg) c.38T>G (p.Leu13Arg) c.209T>G (p.Leu70Arg) c.2324T>G (p.Leu775Arg) | |
2 | g.26477685A>G | CA346123694 | OTOF | c.2279T>C (p.Leu760Pro) c.38T>C (p.Leu13Pro) c.209T>C (p.Leu70Pro) c.2324T>C (p.Leu775Pro) | |
2 | g.26477685A>T | CA346123695 | OTOF | c.2279T>A (p.Leu760Gln) c.38T>A (p.Leu13Gln) c.209T>A (p.Leu70Gln) c.2324T>A (p.Leu775Gln) |