Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26519000dup | CA44437200 | OTOF | c.327+13dup (n.327+13dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26519000del | CA2658241339 | OTOF | c.327+13del (n.327+13del) | gnomAD v4 |
2 | g.26518999G>A | CA2658241343 | OTOF | c.327+11C>T (n.327+11C>T) | gnomAD v4 |
2 | g.26518999G>C | CA767283965 | OTOF | c.327+11C>G (n.327+11C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26518999G= | CA1239847714 | OTOF | c.327+11C= (n.327+11C=) | |
2 | g.26518999G>T | CA2658241344 | OTOF | c.327+11C>A (n.327+11C>A) | gnomAD v4 |
2 | g.26519000G>A | CA2658241345 | OTOF | c.327+10C>T (n.327+10C>T) | gnomAD v4 |
2 | g.26519000G= | CA1239847715 | OTOF | c.327+10C= (n.327+10C=) | |
2 | g.26519000G>T | CA1564717 | OTOF | c.327+10C>A (n.327+10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26519001C= | CA1239847716 | OTOF | c.327+9G= (n.327+9G=) | |
2 | g.26519001C>T | CA1564718 | OTOF | c.327+9G>A (n.327+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26519003T>C | CA531401007 | OTOF | c.327+7A>G (n.327+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26519003T= | CA1239847717 | OTOF | c.327+7A= (n.327+7A=) | |
2 | g.26519005C>A | CA1564719 | OTOF | c.327+5G>T (n.327+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26519005C= | CA1239847718 | OTOF | c.327+5G= (n.327+5G=) | |
2 | g.26519005C>T | CA2658241346 | OTOF | c.327+5G>A (n.327+5G>A) | gnomAD v4 |
2 | g.26519006C= | CA1239847719 | OTOF | c.327+4G= (n.327+4G=) | |
2 | g.26519006C>T | CA1564720 | OTOF | c.327+4G>A (n.327+4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26519007C= | CA1239847720 | OTOF | c.327+3G= (n.327+3G=) | |
2 | g.26519007C>G | CA10576594 | OTOF | c.327+3G>C (n.327+3G>C) | ClinVar dbSNP |
2 | g.26519007C>T | CA645529729 | OTOF | c.327+3G>A (n.327+3G>A) | COSMIC |
2 | g.26519008A= | CA1239847721 | OTOF | c.327+2T= (n.327+2T=) | |
2 | g.26519008A>C | CA1564721 | OTOF | c.327+2T>G (n.327+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26519008A>G | CA346139602 | OTOF | c.327+2T>C (n.327+2T>C) | |
2 | g.26519008A>T | CA346139603 | OTOF | c.327+2T>A (n.327+2T>A) | |
2 | g.26519009C>A | CA346139604 | OTOF | c.327+1G>T (n.327+1G>T) | |
2 | g.26519009C= | CA1239847722 | OTOF | c.327+1G= (n.327+1G=) | |
2 | g.26519009C>G | CA346139605 | OTOF | c.327+1G>C (n.327+1G>C) | |
2 | g.26519009C>T | CA346139606 | OTOF | c.327+1G>A (n.327+1G>A) | dbSNP gnomAD v4 |
2 | g.26519010C>A | CA346139607 | OTOF | c.327G>T (p.Lys109Asn) | gnomAD v4 |
2 | g.26519010C= | CA1239847723 | OTOF | c.327G= (p.Lys109=) | |
2 | g.26519010C>G | CA346139608 | OTOF | c.327G>C (p.Lys109Asn) | |
2 | g.26519010C>T | CA425209359 | OTOF | c.327G>A (p.Lys109=) | dbSNP |
2 | g.26519011T>A | CA1564722 | OTOF | c.326A>T (p.Lys109Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26519011T>C | CA346139610 | OTOF | c.326A>G (p.Lys109Arg) | |
2 | g.26519011T>G | CA346139609 | OTOF | c.326A>C (p.Lys109Thr) | |
2 | g.26519011T= | CA1239847724 | OTOF | c.326A= (p.Lys109=) | |
2 | g.26519012T>A | CA346139611 | OTOF | c.325A>T (p.Lys109Ter) | |
2 | g.26519012T>C | CA346139613 | OTOF | c.325A>G (p.Lys109Glu) | |
2 | g.26519012T>G | CA346139612 | OTOF | c.325A>C (p.Lys109Gln) | |
2 | g.26519016_26519018del | CA2749241675 | OTOF | c.323_325del (p.Ile108del) | |
2 | g.26519013G>A | CA425209360 | OTOF | c.324C>T (p.Ile108=) | |
2 | g.26519013G>C | CA346139614 | OTOF | c.324C>G (p.Ile108Met) | |
2 | g.26519013G>T | CA425209361 | OTOF | c.324C>A (p.Ile108=) | gnomAD v4 |
2 | g.26519014A>C | CA346139616 | OTOF | c.323T>G (p.Ile108Ser) | |
2 | g.26519014A>G | CA346139615 | OTOF | c.323T>C (p.Ile108Thr) | |
2 | g.26519014A>T | CA346139617 | OTOF | c.323T>A (p.Ile108Asn) | |
2 | g.26519015T>A | CA44437239 | OTOF | c.322A>T (p.Ile108Phe) | dbSNP |
2 | g.26519015T>C | CA185331 | OTOF | c.322A>G (p.Ile108Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26519015T>G | CA346139618 | OTOF | c.322A>C (p.Ile108Leu) | gnomAD v4 |