| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461897C>A | CA262047 | OTOF | c.5332G>T (p.Val1778Phe) c.3031G>T (p.Val1011Phe) c.3091G>T (p.Val1031Phe) c.3262G>T (p.Val1088Phe) c.5317G>T (p.Val1773Phe) c.5377G>T (p.Val1793Phe) c.5272G>T (p.Val1758Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461897C= | CA1239825483 | OTOF | c.5332G= (p.Val1778=) c.3031G= (p.Val1011=) c.3091G= (p.Val1031=) c.3262G= (p.Val1088=) c.5317G= (p.Val1773=) c.5377G= (p.Val1793=) c.5272G= (p.Val1758=) | |
| 2 | g.26461897C>G | CA346131721 | OTOF | c.5332G>C (p.Val1778Leu) c.3031G>C (p.Val1011Leu) c.3091G>C (p.Val1031Leu) c.3262G>C (p.Val1088Leu) c.5317G>C (p.Val1773Leu) c.5377G>C (p.Val1793Leu) c.5272G>C (p.Val1758Leu) | |
| 2 | g.26461897C>T | CA1562846 | OTOF | c.5332G>A (p.Val1778Ile) c.3031G>A (p.Val1011Ile) c.3091G>A (p.Val1031Ile) c.3262G>A (p.Val1088Ile) c.5317G>A (p.Val1773Ile) c.5377G>A (p.Val1793Ile) c.5272G>A (p.Val1758Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461898G>A | CA1562847 | OTOF | c.5331C>T (p.Asp1777=) c.3030C>T (p.Asp1010=) c.3090C>T (p.Asp1030=) c.3261C>T (p.Asp1087=) c.5316C>T (p.Asp1772=) c.5376C>T (p.Asp1792=) c.5271C>T (p.Asp1757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461898G>C | CA346131723 | OTOF | c.5331C>G (p.Asp1777Glu) c.3030C>G (p.Asp1010Glu) c.3090C>G (p.Asp1030Glu) c.3261C>G (p.Asp1087Glu) c.5316C>G (p.Asp1772Glu) c.5376C>G (p.Asp1792Glu) c.5271C>G (p.Asp1757Glu) | gnomAD v4 |
| 2 | g.26461898G= | CA1239825484 | OTOF | c.5331C= (p.Asp1777=) c.3030C= (p.Asp1010=) c.3090C= (p.Asp1030=) c.3261C= (p.Asp1087=) c.5316C= (p.Asp1772=) c.5376C= (p.Asp1792=) c.5271C= (p.Asp1757=) | |
| 2 | g.26461898G>T | CA346131724 | OTOF | c.5331C>A (p.Asp1777Glu) c.3030C>A (p.Asp1010Glu) c.3090C>A (p.Asp1030Glu) c.3261C>A (p.Asp1087Glu) c.5316C>A (p.Asp1772Glu) c.5376C>A (p.Asp1792Glu) c.5271C>A (p.Asp1757Glu) | gnomAD v4 |
| 2 | g.26461899T>A | CA346131726 | OTOF | c.5330A>T (p.Asp1777Val) c.3029A>T (p.Asp1010Val) c.3089A>T (p.Asp1030Val) c.3260A>T (p.Asp1087Val) c.5315A>T (p.Asp1772Val) c.5375A>T (p.Asp1792Val) c.5270A>T (p.Asp1757Val) | |
| 2 | g.26461899T>C | CA346131728 | OTOF | c.5330A>G (p.Asp1777Gly) c.3029A>G (p.Asp1010Gly) c.3089A>G (p.Asp1030Gly) c.3260A>G (p.Asp1087Gly) c.5315A>G (p.Asp1772Gly) c.5375A>G (p.Asp1792Gly) c.5270A>G (p.Asp1757Gly) | ClinVar |
| 2 | g.26461899T>G | CA346131732 | OTOF | c.5330A>C (p.Asp1777Ala) c.3029A>C (p.Asp1010Ala) c.3089A>C (p.Asp1030Ala) c.3260A>C (p.Asp1087Ala) c.5315A>C (p.Asp1772Ala) c.5375A>C (p.Asp1792Ala) c.5270A>C (p.Asp1757Ala) | |
| 2 | g.26461900C>A | CA346131733 | OTOF | c.5329G>T (p.Asp1777Tyr) c.3028G>T (p.Asp1010Tyr) c.3088G>T (p.Asp1030Tyr) c.3259G>T (p.Asp1087Tyr) c.5314G>T (p.Asp1772Tyr) c.5374G>T (p.Asp1792Tyr) c.5269G>T (p.Asp1757Tyr) | |
| 2 | g.26461900C>G | CA346131735 | OTOF | c.5329G>C (p.Asp1777His) c.3028G>C (p.Asp1010His) c.3088G>C (p.Asp1030His) c.3259G>C (p.Asp1087His) c.5314G>C (p.Asp1772His) c.5374G>C (p.Asp1792His) c.5269G>C (p.Asp1757His) | |
| 2 | g.26461900C>T | CA346131736 | OTOF | c.5329G>A (p.Asp1777Asn) c.3028G>A (p.Asp1010Asn) c.3088G>A (p.Asp1030Asn) c.3259G>A (p.Asp1087Asn) c.5314G>A (p.Asp1772Asn) c.5374G>A (p.Asp1792Asn) c.5269G>A (p.Asp1757Asn) | |
| 2 | g.26461901T>A | CA425359414 | OTOF | c.5328A>T (p.Thr1776=) c.3027A>T (p.Thr1009=) c.3087A>T (p.Thr1029=) c.3258A>T (p.Thr1086=) c.5313A>T (p.Thr1771=) c.5373A>T (p.Thr1791=) c.5268A>T (p.Thr1756=) | |
| 2 | g.26461901T>C | CA425359415 | OTOF | c.5328A>G (p.Thr1776=) c.3027A>G (p.Thr1009=) c.3087A>G (p.Thr1029=) c.3258A>G (p.Thr1086=) c.5313A>G (p.Thr1771=) c.5373A>G (p.Thr1791=) c.5268A>G (p.Thr1756=) | |
| 2 | g.26461901T>G | CA425359416 | OTOF | c.5328A>C (p.Thr1776=) c.3027A>C (p.Thr1009=) c.3087A>C (p.Thr1029=) c.3258A>C (p.Thr1086=) c.5313A>C (p.Thr1771=) c.5373A>C (p.Thr1791=) c.5268A>C (p.Thr1756=) | |
| 2 | g.26461902G>A | CA346131737 | OTOF | c.5327C>T (p.Thr1776Ile) c.3026C>T (p.Thr1009Ile) c.3086C>T (p.Thr1029Ile) c.3257C>T (p.Thr1086Ile) c.5312C>T (p.Thr1771Ile) c.5372C>T (p.Thr1791Ile) c.5267C>T (p.Thr1756Ile) | |
| 2 | g.26461902G>C | CA346131738 | OTOF | c.5327C>G (p.Thr1776Arg) c.3026C>G (p.Thr1009Arg) c.3086C>G (p.Thr1029Arg) c.3257C>G (p.Thr1086Arg) c.5312C>G (p.Thr1771Arg) c.5372C>G (p.Thr1791Arg) c.5267C>G (p.Thr1756Arg) | |
| 2 | g.26461902G>T | CA346131740 | OTOF | c.5327C>A (p.Thr1776Lys) c.3026C>A (p.Thr1009Lys) c.3086C>A (p.Thr1029Lys) c.3257C>A (p.Thr1086Lys) c.5312C>A (p.Thr1771Lys) c.5372C>A (p.Thr1791Lys) c.5267C>A (p.Thr1756Lys) | |
| 2 | g.26461903T>A | CA346131741 | OTOF | c.5326A>T (p.Thr1776Ser) c.3025A>T (p.Thr1009Ser) c.3085A>T (p.Thr1029Ser) c.3256A>T (p.Thr1086Ser) c.5311A>T (p.Thr1771Ser) c.5371A>T (p.Thr1791Ser) c.5266A>T (p.Thr1756Ser) | |
| 2 | g.26461903T>C | CA346131742 | OTOF | c.5326A>G (p.Thr1776Ala) c.3025A>G (p.Thr1009Ala) c.3085A>G (p.Thr1029Ala) c.3256A>G (p.Thr1086Ala) c.5311A>G (p.Thr1771Ala) c.5371A>G (p.Thr1791Ala) c.5266A>G (p.Thr1756Ala) | |
| 2 | g.26461903T>G | CA346131744 | OTOF | c.5326A>C (p.Thr1776Pro) c.3025A>C (p.Thr1009Pro) c.3085A>C (p.Thr1029Pro) c.3256A>C (p.Thr1086Pro) c.5311A>C (p.Thr1771Pro) c.5371A>C (p.Thr1791Pro) c.5266A>C (p.Thr1756Pro) | |
| 2 | g.26461904G>A | CA425359418 | OTOF | c.5325C>T (p.Asp1775=) c.3024C>T (p.Asp1008=) c.3084C>T (p.Asp1028=) c.3255C>T (p.Asp1085=) c.5310C>T (p.Asp1770=) c.5370C>T (p.Asp1790=) c.5265C>T (p.Asp1755=) | |
| 2 | g.26461904G>C | CA346131745 | OTOF | c.5325C>G (p.Asp1775Glu) c.3024C>G (p.Asp1008Glu) c.3084C>G (p.Asp1028Glu) c.3255C>G (p.Asp1085Glu) c.5310C>G (p.Asp1770Glu) c.5370C>G (p.Asp1790Glu) c.5265C>G (p.Asp1755Glu) | |
| 2 | g.26461904G>T | CA346131747 | OTOF | c.5325C>A (p.Asp1775Glu) c.3024C>A (p.Asp1008Glu) c.3084C>A (p.Asp1028Glu) c.3255C>A (p.Asp1085Glu) c.5310C>A (p.Asp1770Glu) c.5370C>A (p.Asp1790Glu) c.5265C>A (p.Asp1755Glu) | |
| 2 | g.26461905T>A | CA346131749 | OTOF | c.5324A>T (p.Asp1775Val) c.3023A>T (p.Asp1008Val) c.3083A>T (p.Asp1028Val) c.3254A>T (p.Asp1085Val) c.5309A>T (p.Asp1770Val) c.5369A>T (p.Asp1790Val) c.5264A>T (p.Asp1755Val) | |
| 2 | g.26461905T>C | CA346131750 | OTOF | c.5324A>G (p.Asp1775Gly) c.3023A>G (p.Asp1008Gly) c.3083A>G (p.Asp1028Gly) c.3254A>G (p.Asp1085Gly) c.5309A>G (p.Asp1770Gly) c.5369A>G (p.Asp1790Gly) c.5264A>G (p.Asp1755Gly) | |
| 2 | g.26461905T>G | CA346131751 | OTOF | c.5324A>C (p.Asp1775Ala) c.3023A>C (p.Asp1008Ala) c.3083A>C (p.Asp1028Ala) c.3254A>C (p.Asp1085Ala) c.5309A>C (p.Asp1770Ala) c.5369A>C (p.Asp1790Ala) c.5264A>C (p.Asp1755Ala) | |
| 2 | g.26461906C>A | CA346131752 | OTOF | c.5323G>T (p.Asp1775Tyr) c.3022G>T (p.Asp1008Tyr) c.3082G>T (p.Asp1028Tyr) c.3253G>T (p.Asp1085Tyr) c.5308G>T (p.Asp1770Tyr) c.5368G>T (p.Asp1790Tyr) c.5263G>T (p.Asp1755Tyr) | |
| 2 | g.26461906C= | CA1239825485 | OTOF | c.5323G= (p.Asp1775=) c.3022G= (p.Asp1008=) c.3082G= (p.Asp1028=) c.3253G= (p.Asp1085=) c.5308G= (p.Asp1770=) c.5368G= (p.Asp1790=) c.5263G= (p.Asp1755=) | |
| 2 | g.26461906C>G | CA1562848 | OTOF | c.5323G>C (p.Asp1775His) c.3022G>C (p.Asp1008His) c.3082G>C (p.Asp1028His) c.3253G>C (p.Asp1085His) c.5308G>C (p.Asp1770His) c.5368G>C (p.Asp1790His) c.5263G>C (p.Asp1755His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461906C>T | CA346131755 | OTOF | c.5323G>A (p.Asp1775Asn) c.3022G>A (p.Asp1008Asn) c.3082G>A (p.Asp1028Asn) c.3253G>A (p.Asp1085Asn) c.5308G>A (p.Asp1770Asn) c.5368G>A (p.Asp1790Asn) c.5263G>A (p.Asp1755Asn) | |
| 2 | g.26461907C>A | CA346131756 | OTOF | c.5322G>T (p.Gln1774His) c.3021G>T (p.Gln1007His) c.3081G>T (p.Gln1027His) c.3252G>T (p.Gln1084His) c.5307G>T (p.Gln1769His) c.5367G>T (p.Gln1789His) c.5262G>T (p.Gln1754His) | |
| 2 | g.26461907C= | CA1239825486 | OTOF | c.5322G= (p.Gln1774=) c.3021G= (p.Gln1007=) c.3081G= (p.Gln1027=) c.3252G= (p.Gln1084=) c.5307G= (p.Gln1769=) c.5367G= (p.Gln1789=) c.5262G= (p.Gln1754=) | |
| 2 | g.26461907C>G | CA346131758 | OTOF | c.5322G>C (p.Gln1774His) c.3021G>C (p.Gln1007His) c.3081G>C (p.Gln1027His) c.3252G>C (p.Gln1084His) c.5307G>C (p.Gln1769His) c.5367G>C (p.Gln1789His) c.5262G>C (p.Gln1754His) | |
| 2 | g.26461907C>T | CA1562849 | OTOF | c.5322G>A (p.Gln1774=) c.3021G>A (p.Gln1007=) c.3081G>A (p.Gln1027=) c.3252G>A (p.Gln1084=) c.5307G>A (p.Gln1769=) c.5367G>A (p.Gln1789=) c.5262G>A (p.Gln1754=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461908T>A | CA346131760 | OTOF | c.5321A>T (p.Gln1774Leu) c.3020A>T (p.Gln1007Leu) c.3080A>T (p.Gln1027Leu) c.3251A>T (p.Gln1084Leu) c.5306A>T (p.Gln1769Leu) c.5366A>T (p.Gln1789Leu) c.5261A>T (p.Gln1754Leu) | |
| 2 | g.26461908T>C | CA346131762 | OTOF | c.5321A>G (p.Gln1774Arg) c.3020A>G (p.Gln1007Arg) c.3080A>G (p.Gln1027Arg) c.3251A>G (p.Gln1084Arg) c.5306A>G (p.Gln1769Arg) c.5366A>G (p.Gln1789Arg) c.5261A>G (p.Gln1754Arg) | |
| 2 | g.26461908T>G | CA346131763 | OTOF | c.5321A>C (p.Gln1774Pro) c.3020A>C (p.Gln1007Pro) c.3080A>C (p.Gln1027Pro) c.3251A>C (p.Gln1084Pro) c.5306A>C (p.Gln1769Pro) c.5366A>C (p.Gln1789Pro) c.5261A>C (p.Gln1754Pro) | |
| 2 | g.26461909G>A | CA346131767 | OTOF | c.5320C>T (p.Gln1774Ter) c.3019C>T (p.Gln1007Ter) c.3079C>T (p.Gln1027Ter) c.3250C>T (p.Gln1084Ter) c.5305C>T (p.Gln1769Ter) c.5365C>T (p.Gln1789Ter) c.5260C>T (p.Gln1754Ter) | |
| 2 | g.26461909G>C | CA346131768 | OTOF | c.5320C>G (p.Gln1774Glu) c.3019C>G (p.Gln1007Glu) c.3079C>G (p.Gln1027Glu) c.3250C>G (p.Gln1084Glu) c.5305C>G (p.Gln1769Glu) c.5365C>G (p.Gln1789Glu) c.5260C>G (p.Gln1754Glu) | |
| 2 | g.26461909G>T | CA346131765 | OTOF | c.5320C>A (p.Gln1774Lys) c.3019C>A (p.Gln1007Lys) c.3079C>A (p.Gln1027Lys) c.3250C>A (p.Gln1084Lys) c.5305C>A (p.Gln1769Lys) c.5365C>A (p.Gln1789Lys) c.5260C>A (p.Gln1754Lys) | |
| 2 | g.26461910C>A | CA346131770 | OTOF | c.5319G>T (p.Lys1773Asn) c.3018G>T (p.Lys1006Asn) c.3078G>T (p.Lys1026Asn) c.3249G>T (p.Lys1083Asn) c.5304G>T (p.Lys1768Asn) c.5364G>T (p.Lys1788Asn) c.5259G>T (p.Lys1753Asn) | |
| 2 | g.26461910C= | CA1239825487 | OTOF | c.5319G= (p.Lys1773=) c.3018G= (p.Lys1006=) c.3078G= (p.Lys1026=) c.3249G= (p.Lys1083=) c.5304G= (p.Lys1768=) c.5364G= (p.Lys1788=) c.5259G= (p.Lys1753=) | |
| 2 | g.26461910C>G | CA346131771 | OTOF | c.5319G>C (p.Lys1773Asn) c.3018G>C (p.Lys1006Asn) c.3078G>C (p.Lys1026Asn) c.3249G>C (p.Lys1083Asn) c.5304G>C (p.Lys1768Asn) c.5364G>C (p.Lys1788Asn) c.5259G>C (p.Lys1753Asn) | |
| 2 | g.26461910C>T | CA425359422 | OTOF | c.5319G>A (p.Lys1773=) c.3018G>A (p.Lys1006=) c.3078G>A (p.Lys1026=) c.3249G>A (p.Lys1083=) c.5304G>A (p.Lys1768=) c.5364G>A (p.Lys1788=) c.5259G>A (p.Lys1753=) | ClinVar dbSNP |
| 2 | g.26461911T>A | CA346131772 | OTOF | c.5318A>T (p.Lys1773Met) c.3017A>T (p.Lys1006Met) c.3077A>T (p.Lys1026Met) c.3248A>T (p.Lys1083Met) c.5303A>T (p.Lys1768Met) c.5363A>T (p.Lys1788Met) c.5258A>T (p.Lys1753Met) | |
| 2 | g.26461911T>C | CA346131774 | OTOF | c.5318A>G (p.Lys1773Arg) c.3017A>G (p.Lys1006Arg) c.3077A>G (p.Lys1026Arg) c.3248A>G (p.Lys1083Arg) c.5303A>G (p.Lys1768Arg) c.5363A>G (p.Lys1788Arg) c.5258A>G (p.Lys1753Arg) | |
| 2 | g.26461911T>G | CA346131775 | OTOF | c.5318A>C (p.Lys1773Thr) c.3017A>C (p.Lys1006Thr) c.3077A>C (p.Lys1026Thr) c.3248A>C (p.Lys1083Thr) c.5303A>C (p.Lys1768Thr) c.5363A>C (p.Lys1788Thr) c.5258A>C (p.Lys1753Thr) |