UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 2 | g.26461912T>A | CA346131779 | OTOF | c.5317A>T (p.Lys1773Ter) c.3016A>T (p.Lys1006Ter) c.3076A>T (p.Lys1026Ter) c.3247A>T (p.Lys1083Ter) c.5302A>T (p.Lys1768Ter) c.5362A>T (p.Lys1788Ter) c.5257A>T (p.Lys1753Ter) | |
| 2 | g.26461912T>C | CA346131777 | OTOF | c.5317A>G (p.Lys1773Glu) c.3016A>G (p.Lys1006Glu) c.3076A>G (p.Lys1026Glu) c.3247A>G (p.Lys1083Glu) c.5302A>G (p.Lys1768Glu) c.5362A>G (p.Lys1788Glu) c.5257A>G (p.Lys1753Glu) | |
| 2 | g.26461912T>G | CA346131778 | OTOF | c.5317A>C (p.Lys1773Gln) c.3016A>C (p.Lys1006Gln) c.3076A>C (p.Lys1026Gln) c.3247A>C (p.Lys1083Gln) c.5302A>C (p.Lys1768Gln) c.5362A>C (p.Lys1788Gln) c.5257A>C (p.Lys1753Gln) | |
| 2 | g.26461913G>A | CA425359424 | OTOF | c.5316C>T (p.Asp1772=) c.3015C>T (p.Asp1005=) c.3075C>T (p.Asp1025=) c.3246C>T (p.Asp1082=) c.5301C>T (p.Asp1767=) c.5361C>T (p.Asp1787=) c.5256C>T (p.Asp1752=) | |
| 2 | g.26461913G>C | CA346131781 | OTOF | c.5316C>G (p.Asp1772Glu) c.3015C>G (p.Asp1005Glu) c.3075C>G (p.Asp1025Glu) c.3246C>G (p.Asp1082Glu) c.5301C>G (p.Asp1767Glu) c.5361C>G (p.Asp1787Glu) c.5256C>G (p.Asp1752Glu) | |
| 2 | g.26461913G>T | CA346131782 | OTOF | c.5316C>A (p.Asp1772Glu) c.3015C>A (p.Asp1005Glu) c.3075C>A (p.Asp1025Glu) c.3246C>A (p.Asp1082Glu) c.5301C>A (p.Asp1767Glu) c.5361C>A (p.Asp1787Glu) c.5256C>A (p.Asp1752Glu) | |
| 2 | g.26461913_26461916delinsGTCC | CA1239825488 | OTOF | c.5313_5316delinsGGAC (p.Glu1771=) c.3012_3015delinsGGAC (p.Glu1004=) c.3072_3075delinsGGAC (p.Glu1024=) c.3243_3246delinsGGAC (p.Glu1081=) c.5298_5301delinsGGAC (p.Glu1766=) c.5358_5361delinsGGAC (p.Glu1786=) c.5253_5256delinsGGAC (p.Glu1751=) | |
| 2 | g.26461914T>A | CA346131783 | OTOF | c.5315A>T (p.Asp1772Val) c.3014A>T (p.Asp1005Val) c.3074A>T (p.Asp1025Val) c.3245A>T (p.Asp1082Val) c.5300A>T (p.Asp1767Val) c.5360A>T (p.Asp1787Val) c.5255A>T (p.Asp1752Val) | |
| 2 | g.26461914T>C | CA346131785 | OTOF | c.5315A>G (p.Asp1772Gly) c.3014A>G (p.Asp1005Gly) c.3074A>G (p.Asp1025Gly) c.3245A>G (p.Asp1082Gly) c.5300A>G (p.Asp1767Gly) c.5360A>G (p.Asp1787Gly) c.5255A>G (p.Asp1752Gly) | |
| 2 | g.26461914T>G | CA346131787 | OTOF | c.5315A>C (p.Asp1772Ala) c.3014A>C (p.Asp1005Ala) c.3074A>C (p.Asp1025Ala) c.3245A>C (p.Asp1082Ala) c.5300A>C (p.Asp1767Ala) c.5360A>C (p.Asp1787Ala) c.5255A>C (p.Asp1752Ala) | |
| 2 | g.26461918_26461920del | CA1562850 | OTOF | c.5313_5315del (p.Glu1771del) c.3012_3014del (p.Glu1004del) c.3072_3074del (p.Glu1024del) c.3243_3245del (p.Glu1081del) c.5298_5300del (p.Glu1766del) c.5358_5360del (p.Glu1786del) c.5253_5255del (p.Glu1751del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461915C>A | CA346131788 | OTOF | c.5314G>T (p.Asp1772Tyr) c.3013G>T (p.Asp1005Tyr) c.3073G>T (p.Asp1025Tyr) c.3244G>T (p.Asp1082Tyr) c.5299G>T (p.Asp1767Tyr) c.5359G>T (p.Asp1787Tyr) c.5254G>T (p.Asp1752Tyr) | |
| 2 | g.26461915C= | CA1239825489 | OTOF | c.5314G= (p.Asp1772=) c.3013G= (p.Asp1005=) c.3073G= (p.Asp1025=) c.3244G= (p.Asp1082=) c.5299G= (p.Asp1767=) c.5359G= (p.Asp1787=) c.5254G= (p.Asp1752=) | |
| 2 | g.26461915C>G | CA346131790 | OTOF | c.5314G>C (p.Asp1772His) c.3013G>C (p.Asp1005His) c.3073G>C (p.Asp1025His) c.3244G>C (p.Asp1082His) c.5299G>C (p.Asp1767His) c.5359G>C (p.Asp1787His) c.5254G>C (p.Asp1752His) | |
| 2 | g.26461915C>T | CA44409256 | OTOF | c.5314G>A (p.Asp1772Asn) c.3013G>A (p.Asp1005Asn) c.3073G>A (p.Asp1025Asn) c.3244G>A (p.Asp1082Asn) c.5299G>A (p.Asp1767Asn) c.5359G>A (p.Asp1787Asn) c.5254G>A (p.Asp1752Asn) | dbSNP |
| 2 | g.26461916C>A | CA346131793 | OTOF | c.5313G>T (p.Glu1771Asp) c.3012G>T (p.Glu1004Asp) c.3072G>T (p.Glu1024Asp) c.3243G>T (p.Glu1081Asp) c.5298G>T (p.Glu1766Asp) c.5358G>T (p.Glu1786Asp) c.5253G>T (p.Glu1751Asp) | |
| 2 | g.26461916C= | CA1239825490 | OTOF | c.5313G= (p.Glu1771=) c.3012G= (p.Glu1004=) c.3072G= (p.Glu1024=) c.3243G= (p.Glu1081=) c.5298G= (p.Glu1766=) c.5358G= (p.Glu1786=) c.5253G= (p.Glu1751=) | |
| 2 | g.26461916C>G | CA346131791 | OTOF | c.5313G>C (p.Glu1771Asp) c.3012G>C (p.Glu1004Asp) c.3072G>C (p.Glu1024Asp) c.3243G>C (p.Glu1081Asp) c.5298G>C (p.Glu1766Asp) c.5358G>C (p.Glu1786Asp) c.5253G>C (p.Glu1751Asp) | |
| 2 | g.26461916C>T | CA1562851 | OTOF | c.5313G>A (p.Glu1771=) c.3012G>A (p.Glu1004=) c.3072G>A (p.Glu1024=) c.3243G>A (p.Glu1081=) c.5298G>A (p.Glu1766=) c.5358G>A (p.Glu1786=) c.5253G>A (p.Glu1751=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461917T>A | CA346131795 | OTOF | c.5312A>T (p.Glu1771Val) c.3011A>T (p.Glu1004Val) c.3071A>T (p.Glu1024Val) c.3242A>T (p.Glu1081Val) c.5297A>T (p.Glu1766Val) c.5357A>T (p.Glu1786Val) c.5252A>T (p.Glu1751Val) | |
| 2 | g.26461917T>C | CA346131797 | OTOF | c.5312A>G (p.Glu1771Gly) c.3011A>G (p.Glu1004Gly) c.3071A>G (p.Glu1024Gly) c.3242A>G (p.Glu1081Gly) c.5297A>G (p.Glu1766Gly) c.5357A>G (p.Glu1786Gly) c.5252A>G (p.Glu1751Gly) | |
| 2 | g.26461917T>G | CA346131799 | OTOF | c.5312A>C (p.Glu1771Ala) c.3011A>C (p.Glu1004Ala) c.3071A>C (p.Glu1024Ala) c.3242A>C (p.Glu1081Ala) c.5297A>C (p.Glu1766Ala) c.5357A>C (p.Glu1786Ala) c.5252A>C (p.Glu1751Ala) | |
| 2 | g.26461918C>A | CA346131800 | OTOF | c.5311G>T (p.Glu1771Ter) c.3010G>T (p.Glu1004Ter) c.3070G>T (p.Glu1024Ter) c.3241G>T (p.Glu1081Ter) c.5296G>T (p.Glu1766Ter) c.5356G>T (p.Glu1786Ter) c.5251G>T (p.Glu1751Ter) | |
| 2 | g.26461918C= | CA1239825491 | OTOF | c.5311G= (p.Glu1771=) c.3010G= (p.Glu1004=) c.3070G= (p.Glu1024=) c.3241G= (p.Glu1081=) c.5296G= (p.Glu1766=) c.5356G= (p.Glu1786=) c.5251G= (p.Glu1751=) | |
| 2 | g.26461918C>G | CA346131801 | OTOF | c.5311G>C (p.Glu1771Gln) c.3010G>C (p.Glu1004Gln) c.3070G>C (p.Glu1024Gln) c.3241G>C (p.Glu1081Gln) c.5296G>C (p.Glu1766Gln) c.5356G>C (p.Glu1786Gln) c.5251G>C (p.Glu1751Gln) | |
| 2 | g.26461918C>T | CA44409297 | OTOF | c.5311G>A (p.Glu1771Lys) c.3010G>A (p.Glu1004Lys) c.3070G>A (p.Glu1024Lys) c.3241G>A (p.Glu1081Lys) c.5296G>A (p.Glu1766Lys) c.5356G>A (p.Glu1786Lys) c.5251G>A (p.Glu1751Lys) | dbSNP |
| 2 | g.26461919C>A | CA346131803 | OTOF | c.5310G>T (p.Gln1770His) c.3009G>T (p.Gln1003His) c.3069G>T (p.Gln1023His) c.3240G>T (p.Gln1080His) c.5295G>T (p.Gln1765His) c.5355G>T (p.Gln1785His) c.5250G>T (p.Gln1750His) | |
| 2 | g.26461919C>G | CA346131804 | OTOF | c.5310G>C (p.Gln1770His) c.3009G>C (p.Gln1003His) c.3069G>C (p.Gln1023His) c.3240G>C (p.Gln1080His) c.5295G>C (p.Gln1765His) c.5355G>C (p.Gln1785His) c.5250G>C (p.Gln1750His) | |
| 2 | g.26461919C>T | CA425359430 | OTOF | c.5310G>A (p.Gln1770=) c.3009G>A (p.Gln1003=) c.3069G>A (p.Gln1023=) c.3240G>A (p.Gln1080=) c.5295G>A (p.Gln1765=) c.5355G>A (p.Gln1785=) c.5250G>A (p.Gln1750=) | |
| 2 | g.26461920T>A | CA346131806 | OTOF | c.5309A>T (p.Gln1770Leu) c.3008A>T (p.Gln1003Leu) c.3068A>T (p.Gln1023Leu) c.3239A>T (p.Gln1080Leu) c.5294A>T (p.Gln1765Leu) c.5354A>T (p.Gln1785Leu) c.5249A>T (p.Gln1750Leu) | |
| 2 | g.26461920T>C | CA346131807 | OTOF | c.5309A>G (p.Gln1770Arg) c.3008A>G (p.Gln1003Arg) c.3068A>G (p.Gln1023Arg) c.3239A>G (p.Gln1080Arg) c.5294A>G (p.Gln1765Arg) c.5354A>G (p.Gln1785Arg) c.5249A>G (p.Gln1750Arg) | |
| 2 | g.26461920T>G | CA346131809 | OTOF | c.5309A>C (p.Gln1770Pro) c.3008A>C (p.Gln1003Pro) c.3068A>C (p.Gln1023Pro) c.3239A>C (p.Gln1080Pro) c.5294A>C (p.Gln1765Pro) c.5354A>C (p.Gln1785Pro) c.5249A>C (p.Gln1750Pro) | |
| 2 | g.26461921G>A | CA346131810 | OTOF | c.5308C>T (p.Gln1770Ter) c.3007C>T (p.Gln1003Ter) c.3067C>T (p.Gln1023Ter) c.3238C>T (p.Gln1080Ter) c.5293C>T (p.Gln1765Ter) c.5353C>T (p.Gln1785Ter) c.5248C>T (p.Gln1750Ter) | ClinVar |
| 2 | g.26461921G>C | CA346131812 | OTOF | c.5308C>G (p.Gln1770Glu) c.3007C>G (p.Gln1003Glu) c.3067C>G (p.Gln1023Glu) c.3238C>G (p.Gln1080Glu) c.5293C>G (p.Gln1765Glu) c.5353C>G (p.Gln1785Glu) c.5248C>G (p.Gln1750Glu) | |
| 2 | g.26461921G>T | CA346131813 | OTOF | c.5308C>A (p.Gln1770Lys) c.3007C>A (p.Gln1003Lys) c.3067C>A (p.Gln1023Lys) c.3238C>A (p.Gln1080Lys) c.5293C>A (p.Gln1765Lys) c.5353C>A (p.Gln1785Lys) c.5248C>A (p.Gln1750Lys) | |
| 2 | g.26461922C>A | CA346131814 | OTOF | c.5307G>T (p.Gln1769His) c.3006G>T (p.Gln1002His) c.3066G>T (p.Gln1022His) c.3237G>T (p.Gln1079His) c.5292G>T (p.Gln1764His) c.5352G>T (p.Gln1784His) c.5247G>T (p.Gln1749His) | gnomAD v4 |
| 2 | g.26461922C>G | CA346131815 | OTOF | c.5307G>C (p.Gln1769His) c.3006G>C (p.Gln1002His) c.3066G>C (p.Gln1022His) c.3237G>C (p.Gln1079His) c.5292G>C (p.Gln1764His) c.5352G>C (p.Gln1784His) c.5247G>C (p.Gln1749His) | |
| 2 | g.26461922C>T | CA425359432 | OTOF | c.5307G>A (p.Gln1769=) c.3006G>A (p.Gln1002=) c.3066G>A (p.Gln1022=) c.3237G>A (p.Gln1079=) c.5292G>A (p.Gln1764=) c.5352G>A (p.Gln1784=) c.5247G>A (p.Gln1749=) | gnomAD v4 |
| 2 | g.26461923T>A | CA346131817 | OTOF | c.5306A>T (p.Gln1769Leu) c.3005A>T (p.Gln1002Leu) c.3065A>T (p.Gln1022Leu) c.3236A>T (p.Gln1079Leu) c.5291A>T (p.Gln1764Leu) c.5351A>T (p.Gln1784Leu) c.5246A>T (p.Gln1749Leu) | |
| 2 | g.26461923T>C | CA346131818 | OTOF | c.5306A>G (p.Gln1769Arg) c.3005A>G (p.Gln1002Arg) c.3065A>G (p.Gln1022Arg) c.3236A>G (p.Gln1079Arg) c.5291A>G (p.Gln1764Arg) c.5351A>G (p.Gln1784Arg) c.5246A>G (p.Gln1749Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461923T>G | CA346131820 | OTOF | c.5306A>C (p.Gln1769Pro) c.3005A>C (p.Gln1002Pro) c.3065A>C (p.Gln1022Pro) c.3236A>C (p.Gln1079Pro) c.5291A>C (p.Gln1764Pro) c.5351A>C (p.Gln1784Pro) c.5246A>C (p.Gln1749Pro) | |
| 2 | g.26461923T= | CA1239825492 | OTOF | c.5306A= (p.Gln1769=) c.3005A= (p.Gln1002=) c.3065A= (p.Gln1022=) c.3236A= (p.Gln1079=) c.5291A= (p.Gln1764=) c.5351A= (p.Gln1784=) c.5246A= (p.Gln1749=) | |
| 2 | g.26461924G>A | CA346131822 | OTOF | c.5305C>T (p.Gln1769Ter) c.3004C>T (p.Gln1002Ter) c.3064C>T (p.Gln1022Ter) c.3235C>T (p.Gln1079Ter) c.5290C>T (p.Gln1764Ter) c.5350C>T (p.Gln1784Ter) c.5245C>T (p.Gln1749Ter) | |
| 2 | g.26461924G>C | CA346131823 | OTOF | c.5305C>G (p.Gln1769Glu) c.3004C>G (p.Gln1002Glu) c.3064C>G (p.Gln1022Glu) c.3235C>G (p.Gln1079Glu) c.5290C>G (p.Gln1764Glu) c.5350C>G (p.Gln1784Glu) c.5245C>G (p.Gln1749Glu) | |
| 2 | g.26461924G>T | CA346131825 | OTOF | c.5305C>A (p.Gln1769Lys) c.3004C>A (p.Gln1002Lys) c.3064C>A (p.Gln1022Lys) c.3235C>A (p.Gln1079Lys) c.5290C>A (p.Gln1764Lys) c.5350C>A (p.Gln1784Lys) c.5245C>A (p.Gln1749Lys) | COSMIC COSMIC COSMIC |
| 2 | g.26461925G>A | CA425359434 | OTOF | c.5304C>T (p.Gly1768=) c.3003C>T (p.Gly1001=) c.3063C>T (p.Gly1021=) c.3234C>T (p.Gly1078=) c.5289C>T (p.Gly1763=) c.5349C>T (p.Gly1783=) c.5244C>T (p.Gly1748=) | |
| 2 | g.26461925G>C | CA425359436 | OTOF | c.5304C>G (p.Gly1768=) c.3003C>G (p.Gly1001=) c.3063C>G (p.Gly1021=) c.3234C>G (p.Gly1078=) c.5289C>G (p.Gly1763=) c.5349C>G (p.Gly1783=) c.5244C>G (p.Gly1748=) | dbSNP gnomAD v4 |
| 2 | g.26461925G= | CA1239825493 | OTOF | c.5304C= (p.Gly1768=) c.3003C= (p.Gly1001=) c.3063C= (p.Gly1021=) c.3234C= (p.Gly1078=) c.5289C= (p.Gly1763=) c.5349C= (p.Gly1783=) c.5244C= (p.Gly1748=) | |
| 2 | g.26461925G>T | CA425359435 | OTOF | c.5304C>A (p.Gly1768=) c.3003C>A (p.Gly1001=) c.3063C>A (p.Gly1021=) c.3234C>A (p.Gly1078=) c.5289C>A (p.Gly1763=) c.5349C>A (p.Gly1783=) c.5244C>A (p.Gly1748=) | |
| 2 | g.26461926C>A | CA346131826 | OTOF | c.5303G>T (p.Gly1768Val) c.3002G>T (p.Gly1001Val) c.3062G>T (p.Gly1021Val) c.3233G>T (p.Gly1078Val) c.5288G>T (p.Gly1763Val) c.5348G>T (p.Gly1783Val) c.5243G>T (p.Gly1748Val) | |
| 2 | g.26461926C>G | CA346131827 | OTOF | c.5303G>C (p.Gly1768Ala) c.3002G>C (p.Gly1001Ala) c.3062G>C (p.Gly1021Ala) c.3233G>C (p.Gly1078Ala) c.5288G>C (p.Gly1763Ala) c.5348G>C (p.Gly1783Ala) c.5243G>C (p.Gly1748Ala) | |
| 2 | g.26461926C>T | CA346131828 | OTOF | c.5303G>A (p.Gly1768Asp) c.3002G>A (p.Gly1001Asp) c.3062G>A (p.Gly1021Asp) c.3233G>A (p.Gly1078Asp) c.5288G>A (p.Gly1763Asp) c.5348G>A (p.Gly1783Asp) c.5243G>A (p.Gly1748Asp) | gnomAD v4 |
| 2 | g.26461927C>A | CA346131830 | OTOF | c.5302G>T (p.Gly1768Cys) c.3001G>T (p.Gly1001Cys) c.3061G>T (p.Gly1021Cys) c.3232G>T (p.Gly1078Cys) c.5287G>T (p.Gly1763Cys) c.5347G>T (p.Gly1783Cys) c.5242G>T (p.Gly1748Cys) | |
| 2 | g.26461927C= | CA1239825494 | OTOF | c.5302G= (p.Gly1768=) c.3001G= (p.Gly1001=) c.3061G= (p.Gly1021=) c.3232G= (p.Gly1078=) c.5287G= (p.Gly1763=) c.5347G= (p.Gly1783=) c.5242G= (p.Gly1748=) | |
| 2 | g.26461927C>G | CA346131831 | OTOF | c.5302G>C (p.Gly1768Arg) c.3001G>C (p.Gly1001Arg) c.3061G>C (p.Gly1021Arg) c.3232G>C (p.Gly1078Arg) c.5287G>C (p.Gly1763Arg) c.5347G>C (p.Gly1783Arg) c.5242G>C (p.Gly1748Arg) | |
| 2 | g.26461927C>T | CA1562852 | OTOF | c.5302G>A (p.Gly1768Ser) c.3001G>A (p.Gly1001Ser) c.3061G>A (p.Gly1021Ser) c.3232G>A (p.Gly1078Ser) c.5287G>A (p.Gly1763Ser) c.5347G>A (p.Gly1783Ser) c.5242G>A (p.Gly1748Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461928C>A | CA346131832 | OTOF | c.5301G>T (p.Lys1767Asn) c.3000G>T (p.Lys1000Asn) c.3060G>T (p.Lys1020Asn) c.3231G>T (p.Lys1077Asn) c.5286G>T (p.Lys1762Asn) c.5346G>T (p.Lys1782Asn) c.5241G>T (p.Lys1747Asn) | |
| 2 | g.26461928C>G | CA346131833 | OTOF | c.5301G>C (p.Lys1767Asn) c.3000G>C (p.Lys1000Asn) c.3060G>C (p.Lys1020Asn) c.3231G>C (p.Lys1077Asn) c.5286G>C (p.Lys1762Asn) c.5346G>C (p.Lys1782Asn) c.5241G>C (p.Lys1747Asn) | |
| 2 | g.26461928C>T | CA425359440 | OTOF | c.5301G>A (p.Lys1767=) c.3000G>A (p.Lys1000=) c.3060G>A (p.Lys1020=) c.3231G>A (p.Lys1077=) c.5286G>A (p.Lys1762=) c.5346G>A (p.Lys1782=) c.5241G>A (p.Lys1747=) | |
| 2 | g.26461929T>A | CA346131835 | OTOF | c.5300A>T (p.Lys1767Met) c.2999A>T (p.Lys1000Met) c.3059A>T (p.Lys1020Met) c.3230A>T (p.Lys1077Met) c.5285A>T (p.Lys1762Met) c.5345A>T (p.Lys1782Met) c.5240A>T (p.Lys1747Met) | |
| 2 | g.26461929T>C | CA346131837 | OTOF | c.5300A>G (p.Lys1767Arg) c.2999A>G (p.Lys1000Arg) c.3059A>G (p.Lys1020Arg) c.3230A>G (p.Lys1077Arg) c.5285A>G (p.Lys1762Arg) c.5345A>G (p.Lys1782Arg) c.5240A>G (p.Lys1747Arg) | |
| 2 | g.26461929T>G | CA346131838 | OTOF | c.5300A>C (p.Lys1767Thr) c.2999A>C (p.Lys1000Thr) c.3059A>C (p.Lys1020Thr) c.3230A>C (p.Lys1077Thr) c.5285A>C (p.Lys1762Thr) c.5345A>C (p.Lys1782Thr) c.5240A>C (p.Lys1747Thr) | |
| 2 | g.26461930T>A | CA346131839 | OTOF | c.5299A>T (p.Lys1767Ter) c.2998A>T (p.Lys1000Ter) c.3058A>T (p.Lys1020Ter) c.3229A>T (p.Lys1077Ter) c.5284A>T (p.Lys1762Ter) c.5344A>T (p.Lys1782Ter) c.5239A>T (p.Lys1747Ter) | |
| 2 | g.26461930T>C | CA346131841 | OTOF | c.5299A>G (p.Lys1767Glu) c.2998A>G (p.Lys1000Glu) c.3058A>G (p.Lys1020Glu) c.3229A>G (p.Lys1077Glu) c.5284A>G (p.Lys1762Glu) c.5344A>G (p.Lys1782Glu) c.5239A>G (p.Lys1747Glu) | |
| 2 | g.26461930T>G | CA346131842 | OTOF | c.5299A>C (p.Lys1767Gln) c.2998A>C (p.Lys1000Gln) c.3058A>C (p.Lys1020Gln) c.3229A>C (p.Lys1077Gln) c.5284A>C (p.Lys1762Gln) c.5344A>C (p.Lys1782Gln) c.5239A>C (p.Lys1747Gln) | |
| 2 | g.26461931C>A | CA425359442 | OTOF | c.5298G>T (p.Leu1766=) c.2997G>T (p.Leu999=) c.3057G>T (p.Leu1019=) c.3228G>T (p.Leu1076=) c.5283G>T (p.Leu1761=) c.5343G>T (p.Leu1781=) c.5238G>T (p.Leu1746=) | |
| 2 | g.26461931C>G | CA425359443 | OTOF | c.5298G>C (p.Leu1766=) c.2997G>C (p.Leu999=) c.3057G>C (p.Leu1019=) c.3228G>C (p.Leu1076=) c.5283G>C (p.Leu1761=) c.5343G>C (p.Leu1781=) c.5238G>C (p.Leu1746=) | |
| 2 | g.26461931C>T | CA425359444 | OTOF | c.5298G>A (p.Leu1766=) c.2997G>A (p.Leu999=) c.3057G>A (p.Leu1019=) c.3228G>A (p.Leu1076=) c.5283G>A (p.Leu1761=) c.5343G>A (p.Leu1781=) c.5238G>A (p.Leu1746=) | ClinVar |
| 2 | g.26461932A>C | CA346131847 | OTOF | c.5297T>G (p.Leu1766Arg) c.2996T>G (p.Leu999Arg) c.3056T>G (p.Leu1019Arg) c.3227T>G (p.Leu1076Arg) c.5282T>G (p.Leu1761Arg) c.5342T>G (p.Leu1781Arg) c.5237T>G (p.Leu1746Arg) | |
| 2 | g.26461932A>G | CA346131844 | OTOF | c.5297T>C (p.Leu1766Pro) c.2996T>C (p.Leu999Pro) c.3056T>C (p.Leu1019Pro) c.3227T>C (p.Leu1076Pro) c.5282T>C (p.Leu1761Pro) c.5342T>C (p.Leu1781Pro) c.5237T>C (p.Leu1746Pro) | |
| 2 | g.26461932A>T | CA346131846 | OTOF | c.5297T>A (p.Leu1766Gln) c.2996T>A (p.Leu999Gln) c.3056T>A (p.Leu1019Gln) c.3227T>A (p.Leu1076Gln) c.5282T>A (p.Leu1761Gln) c.5342T>A (p.Leu1781Gln) c.5237T>A (p.Leu1746Gln) | |
| 2 | g.26461933G>A | CA425359445 | OTOF | c.5296C>T (p.Leu1766=) c.2995C>T (p.Leu999=) c.3055C>T (p.Leu1019=) c.3226C>T (p.Leu1076=) c.5281C>T (p.Leu1761=) c.5341C>T (p.Leu1781=) c.5236C>T (p.Leu1746=) | |
| 2 | g.26461933G>C | CA346131849 | OTOF | c.5296C>G (p.Leu1766Val) c.2995C>G (p.Leu999Val) c.3055C>G (p.Leu1019Val) c.3226C>G (p.Leu1076Val) c.5281C>G (p.Leu1761Val) c.5341C>G (p.Leu1781Val) c.5236C>G (p.Leu1746Val) | |
| 2 | g.26461933G>T | CA346131851 | OTOF | c.5296C>A (p.Leu1766Met) c.2995C>A (p.Leu999Met) c.3055C>A (p.Leu1019Met) c.3226C>A (p.Leu1076Met) c.5281C>A (p.Leu1761Met) c.5341C>A (p.Leu1781Met) c.5236C>A (p.Leu1746Met) | |
| 2 | g.26461934C>A | CA346131852 | OTOF | c.5295G>T (p.Trp1765Cys) c.2994G>T (p.Trp998Cys) c.3054G>T (p.Trp1018Cys) c.3225G>T (p.Trp1075Cys) c.5280G>T (p.Trp1760Cys) c.5340G>T (p.Trp1780Cys) c.5235G>T (p.Trp1745Cys) | |
| 2 | g.26461934C>G | CA346131854 | OTOF | c.5295G>C (p.Trp1765Cys) c.2994G>C (p.Trp998Cys) c.3054G>C (p.Trp1018Cys) c.3225G>C (p.Trp1075Cys) c.5280G>C (p.Trp1760Cys) c.5340G>C (p.Trp1780Cys) c.5235G>C (p.Trp1745Cys) | |
| 2 | g.26461934C>T | CA346131855 | OTOF | c.5295G>A (p.Trp1765Ter) c.2994G>A (p.Trp998Ter) c.3054G>A (p.Trp1018Ter) c.3225G>A (p.Trp1075Ter) c.5280G>A (p.Trp1760Ter) c.5340G>A (p.Trp1780Ter) c.5235G>A (p.Trp1745Ter) | COSMIC COSMIC COSMIC |
| 2 | g.26461935C>A | CA346131856 | OTOF | c.5294G>T (p.Trp1765Leu) c.2993G>T (p.Trp998Leu) c.3053G>T (p.Trp1018Leu) c.3224G>T (p.Trp1075Leu) c.5279G>T (p.Trp1760Leu) c.5339G>T (p.Trp1780Leu) c.5234G>T (p.Trp1745Leu) | |
| 2 | g.26461935C>G | CA346131860 | OTOF | c.5294G>C (p.Trp1765Ser) c.2993G>C (p.Trp998Ser) c.3053G>C (p.Trp1018Ser) c.3224G>C (p.Trp1075Ser) c.5279G>C (p.Trp1760Ser) c.5339G>C (p.Trp1780Ser) c.5234G>C (p.Trp1745Ser) | |
| 2 | g.26461935C>T | CA346131858 | OTOF | c.5294G>A (p.Trp1765Ter) c.2993G>A (p.Trp998Ter) c.3053G>A (p.Trp1018Ter) c.3224G>A (p.Trp1075Ter) c.5279G>A (p.Trp1760Ter) c.5339G>A (p.Trp1780Ter) c.5234G>A (p.Trp1745Ter) | |
| 2 | g.26461936A= | CA1239825495 | OTOF | c.5293T= (p.Trp1765=) c.2992T= (p.Trp998=) c.3052T= (p.Trp1018=) c.3223T= (p.Trp1075=) c.5278T= (p.Trp1760=) c.5338T= (p.Trp1780=) c.5233T= (p.Trp1745=) | |
| 2 | g.26461936A>C | CA346131861 | OTOF | c.5293T>G (p.Trp1765Gly) c.2992T>G (p.Trp998Gly) c.3052T>G (p.Trp1018Gly) c.3223T>G (p.Trp1075Gly) c.5278T>G (p.Trp1760Gly) c.5338T>G (p.Trp1780Gly) c.5233T>G (p.Trp1745Gly) | dbSNP |
| 2 | g.26461936A>G | CA346131862 | OTOF | c.5293T>C (p.Trp1765Arg) c.2992T>C (p.Trp998Arg) c.3052T>C (p.Trp1018Arg) c.3223T>C (p.Trp1075Arg) c.5278T>C (p.Trp1760Arg) c.5338T>C (p.Trp1780Arg) c.5233T>C (p.Trp1745Arg) | |
| 2 | g.26461936A>T | CA346131864 | OTOF | c.5293T>A (p.Trp1765Arg) c.2992T>A (p.Trp998Arg) c.3052T>A (p.Trp1018Arg) c.3223T>A (p.Trp1075Arg) c.5278T>A (p.Trp1760Arg) c.5338T>A (p.Trp1780Arg) c.5233T>A (p.Trp1745Arg) | |
| 2 | g.26461937C>A | CA425359450 | OTOF | c.5292G>T (p.Gly1764=) c.2991G>T (p.Gly997=) c.3051G>T (p.Gly1017=) c.3222G>T (p.Gly1074=) c.5277G>T (p.Gly1759=) c.5337G>T (p.Gly1779=) c.5232G>T (p.Gly1744=) | |
| 2 | g.26461937C>G | CA425359451 | OTOF | c.5292G>C (p.Gly1764=) c.2991G>C (p.Gly997=) c.3051G>C (p.Gly1017=) c.3222G>C (p.Gly1074=) c.5277G>C (p.Gly1759=) c.5337G>C (p.Gly1779=) c.5232G>C (p.Gly1744=) | |
| 2 | g.26461937C>T | CA425359452 | OTOF | c.5292G>A (p.Gly1764=) c.2991G>A (p.Gly997=) c.3051G>A (p.Gly1017=) c.3222G>A (p.Gly1074=) c.5277G>A (p.Gly1759=) c.5337G>A (p.Gly1779=) c.5232G>A (p.Gly1744=) | |
| 2 | g.26461938C>A | CA346131865 | OTOF | c.5292-1G>T (n.5292-1G>T) c.2991-1G>T (n.2991-1G>T) c.3051-1G>T (n.3051-1G>T) c.3222-1G>T (n.3222-1G>T) c.5277-1G>T (n.5277-1G>T) c.5337-1G>T (n.5337-1G>T) c.5232-1G>T (n.5232-1G>T) | |
| 2 | g.26461938C>G | CA346131867 | OTOF | c.5292-1G>C (n.5292-1G>C) c.2991-1G>C (n.2991-1G>C) c.3051-1G>C (n.3051-1G>C) c.3222-1G>C (n.3222-1G>C) c.5277-1G>C (n.5277-1G>C) c.5337-1G>C (n.5337-1G>C) c.5232-1G>C (n.5232-1G>C) | |
| 2 | g.26461938C>T | CA346131869 | OTOF | c.5292-1G>A (n.5292-1G>A) c.2991-1G>A (n.2991-1G>A) c.3051-1G>A (n.3051-1G>A) c.3222-1G>A (n.3222-1G>A) c.5277-1G>A (n.5277-1G>A) c.5337-1G>A (n.5337-1G>A) c.5232-1G>A (n.5232-1G>A) | |
| 2 | g.26461939T>A | CA346131870 | OTOF | c.5292-2A>T (n.5292-2A>T) c.2991-2A>T (n.2991-2A>T) c.3051-2A>T (n.3051-2A>T) c.3222-2A>T (n.3222-2A>T) c.5277-2A>T (n.5277-2A>T) c.5337-2A>T (n.5337-2A>T) c.5232-2A>T (n.5232-2A>T) | |
| 2 | g.26461939T>C | CA346131871 | OTOF | c.5292-2A>G (n.5292-2A>G) c.2991-2A>G (n.2991-2A>G) c.3051-2A>G (n.3051-2A>G) c.3222-2A>G (n.3222-2A>G) c.5277-2A>G (n.5277-2A>G) c.5337-2A>G (n.5337-2A>G) c.5232-2A>G (n.5232-2A>G) | |
| 2 | g.26461939T>G | CA346131873 | OTOF | c.5292-2A>C (n.5292-2A>C) c.2991-2A>C (n.2991-2A>C) c.3051-2A>C (n.3051-2A>C) c.3222-2A>C (n.3222-2A>C) c.5277-2A>C (n.5277-2A>C) c.5337-2A>C (n.5337-2A>C) c.5232-2A>C (n.5232-2A>C) | gnomAD v4 |
| 2 | g.26461940G>A | CA44409310 | OTOF | c.5292-3C>T (n.5292-3C>T) c.2991-3C>T (n.2991-3C>T) c.3051-3C>T (n.3051-3C>T) c.3222-3C>T (n.3222-3C>T) c.5277-3C>T (n.5277-3C>T) c.5337-3C>T (n.5337-3C>T) c.5232-3C>T (n.5232-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461940G= | CA1239825496 | OTOF | c.5292-3C= (n.5292-3C=) c.2991-3C= (n.2991-3C=) c.3051-3C= (n.3051-3C=) c.3222-3C= (n.3222-3C=) c.5277-3C= (n.5277-3C=) c.5337-3C= (n.5337-3C=) c.5232-3C= (n.5232-3C=) | |
| 2 | g.26461940G>T | CA2658232663 | OTOF | c.5292-3C>A (n.5292-3C>A) c.2991-3C>A (n.2991-3C>A) c.3051-3C>A (n.3051-3C>A) c.3222-3C>A (n.3222-3C>A) c.5277-3C>A (n.5277-3C>A) c.5337-3C>A (n.5337-3C>A) c.5232-3C>A (n.5232-3C>A) | gnomAD v4 |
| 2 | g.26461941T>C | CA1239825498 | OTOF | c.5292-4A>G (n.5292-4A>G) c.2991-4A>G (n.2991-4A>G) c.3051-4A>G (n.3051-4A>G) c.3222-4A>G (n.3222-4A>G) c.5277-4A>G (n.5277-4A>G) c.5337-4A>G (n.5337-4A>G) c.5232-4A>G (n.5232-4A>G) | dbSNP |
| 2 | g.26461941T>G | CA1239825499 | OTOF | c.5292-4A>C (n.5292-4A>C) c.2991-4A>C (n.2991-4A>C) c.3051-4A>C (n.3051-4A>C) c.3222-4A>C (n.3222-4A>C) c.5277-4A>C (n.5277-4A>C) c.5337-4A>C (n.5337-4A>C) c.5232-4A>C (n.5232-4A>C) | ClinVar dbSNP |
| 2 | g.26461941T= | CA1239825497 | OTOF | c.5292-4A= (n.5292-4A=) c.2991-4A= (n.2991-4A=) c.3051-4A= (n.3051-4A=) c.3222-4A= (n.3222-4A=) c.5277-4A= (n.5277-4A=) c.5337-4A= (n.5337-4A=) c.5232-4A= (n.5232-4A=) | |
| 2 | g.26461942G>A | CA2658232664 | OTOF | c.5292-5C>T (n.5292-5C>T) c.2991-5C>T (n.2991-5C>T) c.3051-5C>T (n.3051-5C>T) c.3222-5C>T (n.3222-5C>T) c.5277-5C>T (n.5277-5C>T) c.5337-5C>T (n.5337-5C>T) c.5232-5C>T (n.5232-5C>T) | ClinVar gnomAD v4 |
| 2 | g.26461942G>T | CA2658232665 | OTOF | c.5292-5C>A (n.5292-5C>A) c.2991-5C>A (n.2991-5C>A) c.3051-5C>A (n.3051-5C>A) c.3222-5C>A (n.3222-5C>A) c.5277-5C>A (n.5277-5C>A) c.5337-5C>A (n.5337-5C>A) c.5232-5C>A (n.5232-5C>A) | gnomAD v4 |
| 2 | g.26461944G>C | CA2594511762 | OTOF | c.5292-7C>G (n.5292-7C>G) c.2991-7C>G (n.2991-7C>G) c.3051-7C>G (n.3051-7C>G) c.3222-7C>G (n.3222-7C>G) c.5277-7C>G (n.5277-7C>G) c.5337-7C>G (n.5337-7C>G) c.5232-7C>G (n.5232-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461944G= | CA1239825500 | OTOF | c.5292-7C= (n.5292-7C=) c.2991-7C= (n.2991-7C=) c.3051-7C= (n.3051-7C=) c.3222-7C= (n.3222-7C=) c.5277-7C= (n.5277-7C=) c.5337-7C= (n.5337-7C=) c.5232-7C= (n.5232-7C=) | |
| 2 | g.26461944G>T | CA44409315 | OTOF | c.5292-7C>A (n.5292-7C>A) c.2991-7C>A (n.2991-7C>A) c.3051-7C>A (n.3051-7C>A) c.3222-7C>A (n.3222-7C>A) c.5277-7C>A (n.5277-7C>A) c.5337-7C>A (n.5337-7C>A) c.5232-7C>A (n.5232-7C>A) | dbSNP gnomAD v4 |
| 2 | g.26461945C>A | CA2576698814 | OTOF | c.5292-8G>T (n.5292-8G>T) c.2991-8G>T (n.2991-8G>T) c.3051-8G>T (n.3051-8G>T) c.3222-8G>T (n.3222-8G>T) c.5277-8G>T (n.5277-8G>T) c.5337-8G>T (n.5337-8G>T) c.5232-8G>T (n.5232-8G>T) | |
| 2 | g.26461945C= | CA1239825501 | OTOF | c.5292-8G= (n.5292-8G=) c.2991-8G= (n.2991-8G=) c.3051-8G= (n.3051-8G=) c.3222-8G= (n.3222-8G=) c.5277-8G= (n.5277-8G=) c.5337-8G= (n.5337-8G=) c.5232-8G= (n.5232-8G=) | |
| 2 | g.26461945C>T | CA1562853 | OTOF | c.5292-8G>A (n.5292-8G>A) c.2991-8G>A (n.2991-8G>A) c.3051-8G>A (n.3051-8G>A) c.3222-8G>A (n.3222-8G>A) c.5277-8G>A (n.5277-8G>A) c.5337-8G>A (n.5337-8G>A) c.5232-8G>A (n.5232-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461946G>A | CA1562854 | OTOF | c.5292-9C>T (n.5292-9C>T) c.2991-9C>T (n.2991-9C>T) c.3051-9C>T (n.3051-9C>T) c.3222-9C>T (n.3222-9C>T) c.5277-9C>T (n.5277-9C>T) c.5337-9C>T (n.5337-9C>T) c.5232-9C>T (n.5232-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461946G= | CA1239825502 | OTOF | c.5292-9C= (n.5292-9C=) c.2991-9C= (n.2991-9C=) c.3051-9C= (n.3051-9C=) c.3222-9C= (n.3222-9C=) c.5277-9C= (n.5277-9C=) c.5337-9C= (n.5337-9C=) c.5232-9C= (n.5232-9C=) | |
| 2 | g.26461946G>T | CA645531689 | OTOF | c.5292-9C>A (n.5292-9C>A) c.2991-9C>A (n.2991-9C>A) c.3051-9C>A (n.3051-9C>A) c.3222-9C>A (n.3222-9C>A) c.5277-9C>A (n.5277-9C>A) c.5337-9C>A (n.5337-9C>A) c.5232-9C>A (n.5232-9C>A) | COSMIC COSMIC COSMIC |
| 2 | g.26461947C>A | CA1239825504 | OTOF | c.5292-10G>T (n.5292-10G>T) c.2991-10G>T (n.2991-10G>T) c.3051-10G>T (n.3051-10G>T) c.3222-10G>T (n.3222-10G>T) c.5277-10G>T (n.5277-10G>T) c.5337-10G>T (n.5337-10G>T) c.5232-10G>T (n.5232-10G>T) | dbSNP |
| 2 | g.26461947C= | CA1239825503 | OTOF | c.5292-10G= (n.5292-10G=) c.2991-10G= (n.2991-10G=) c.3051-10G= (n.3051-10G=) c.3222-10G= (n.3222-10G=) c.5277-10G= (n.5277-10G=) c.5337-10G= (n.5337-10G=) c.5232-10G= (n.5232-10G=) | |
| 2 | g.26461947C>T | CA1562855 | OTOF | c.5292-10G>A (n.5292-10G>A) c.2991-10G>A (n.2991-10G>A) c.3051-10G>A (n.3051-10G>A) c.3222-10G>A (n.3222-10G>A) c.5277-10G>A (n.5277-10G>A) c.5337-10G>A (n.5337-10G>A) c.5232-10G>A (n.5232-10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461948C>T | CA2658232666 | OTOF | c.5292-11G>A (n.5292-11G>A) c.2991-11G>A (n.2991-11G>A) c.3051-11G>A (n.3051-11G>A) c.3222-11G>A (n.3222-11G>A) c.5277-11G>A (n.5277-11G>A) c.5337-11G>A (n.5337-11G>A) c.5232-11G>A (n.5232-11G>A) | gnomAD v4 |
| 2 | g.26461949A= | CA1239825505 | OTOF | c.5292-12T= (n.5292-12T=) c.2991-12T= (n.2991-12T=) c.3051-12T= (n.3051-12T=) c.3222-12T= (n.3222-12T=) c.5277-12T= (n.5277-12T=) c.5337-12T= (n.5337-12T=) c.5232-12T= (n.5232-12T=) | |
| 2 | g.26461949A>G | CA531761632 | OTOF | c.5292-12T>C (n.5292-12T>C) c.2991-12T>C (n.2991-12T>C) c.3051-12T>C (n.3051-12T>C) c.3222-12T>C (n.3222-12T>C) c.5277-12T>C (n.5277-12T>C) c.5337-12T>C (n.5337-12T>C) c.5232-12T>C (n.5232-12T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461950C>A | CA767290766 | OTOF | c.5292-13G>T (n.5292-13G>T) c.2991-13G>T (n.2991-13G>T) c.3051-13G>T (n.3051-13G>T) c.3222-13G>T (n.3222-13G>T) c.5277-13G>T (n.5277-13G>T) c.5337-13G>T (n.5337-13G>T) c.5232-13G>T (n.5232-13G>T) | dbSNP |
| 2 | g.26461950C= | CA1239825506 | OTOF | c.5292-13G= (n.5292-13G=) c.2991-13G= (n.2991-13G=) c.3051-13G= (n.3051-13G=) c.3222-13G= (n.3222-13G=) c.5277-13G= (n.5277-13G=) c.5337-13G= (n.5337-13G=) c.5232-13G= (n.5232-13G=) | |
| 2 | g.26461950C>G | CA2658232667 | OTOF | c.5292-13G>C (n.5292-13G>C) c.2991-13G>C (n.2991-13G>C) c.3051-13G>C (n.3051-13G>C) c.3222-13G>C (n.3222-13G>C) c.5277-13G>C (n.5277-13G>C) c.5337-13G>C (n.5337-13G>C) c.5232-13G>C (n.5232-13G>C) | gnomAD v4 |
| 2 | g.26461951A= | CA1239825507 | OTOF | c.5292-14T= (n.5292-14T=) c.2991-14T= (n.2991-14T=) c.3051-14T= (n.3051-14T=) c.3222-14T= (n.3222-14T=) c.5277-14T= (n.5277-14T=) c.5337-14T= (n.5337-14T=) c.5232-14T= (n.5232-14T=) | |
| 2 | g.26461951A>C | CA2749240306 | OTOF | c.5292-14T>G (n.5292-14T>G) c.2991-14T>G (n.2991-14T>G) c.3051-14T>G (n.3051-14T>G) c.3222-14T>G (n.3222-14T>G) c.5277-14T>G (n.5277-14T>G) c.5337-14T>G (n.5337-14T>G) c.5232-14T>G (n.5232-14T>G) | |
| 2 | g.26461951A>G | CA767290768 | OTOF | c.5292-14T>C (n.5292-14T>C) c.2991-14T>C (n.2991-14T>C) c.3051-14T>C (n.3051-14T>C) c.3222-14T>C (n.3222-14T>C) c.5277-14T>C (n.5277-14T>C) c.5337-14T>C (n.5337-14T>C) c.5232-14T>C (n.5232-14T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461952T>A | CA2749240307 | OTOF | c.5292-15A>T (n.5292-15A>T) c.2991-15A>T (n.2991-15A>T) c.3051-15A>T (n.3051-15A>T) c.3222-15A>T (n.3222-15A>T) c.5277-15A>T (n.5277-15A>T) c.5337-15A>T (n.5337-15A>T) c.5232-15A>T (n.5232-15A>T) | |
| 2 | g.26461954_26461955dup | CA2658232668 | OTOF | c.5292-16_5292-15dup (n.5292-16_5292-15dup) c.2991-16_2991-15dup (n.2991-16_2991-15dup) c.3051-16_3051-15dup (n.3051-16_3051-15dup) c.3222-16_3222-15dup (n.3222-16_3222-15dup) c.5277-16_5277-15dup (n.5277-16_5277-15dup) c.5337-16_5337-15dup (n.5337-16_5337-15dup) c.5232-16_5232-15dup (n.5232-16_5232-15dup) | gnomAD v4 |
| 2 | g.26461954T>C | CA2749240308 | OTOF | c.5292-17A>G (n.5292-17A>G) c.2991-17A>G (n.2991-17A>G) c.3051-17A>G (n.3051-17A>G) c.3222-17A>G (n.3222-17A>G) c.5277-17A>G (n.5277-17A>G) c.5337-17A>G (n.5337-17A>G) c.5232-17A>G (n.5232-17A>G) | |
| 2 | g.26461955C= | CA1239825508 | OTOF | c.5292-18G= (n.5292-18G=) c.2991-18G= (n.2991-18G=) c.3051-18G= (n.3051-18G=) c.3222-18G= (n.3222-18G=) c.5277-18G= (n.5277-18G=) c.5337-18G= (n.5337-18G=) c.5232-18G= (n.5232-18G=) | |
| 2 | g.26461955C>G | CA2658232669 | OTOF | c.5292-18G>C (n.5292-18G>C) c.2991-18G>C (n.2991-18G>C) c.3051-18G>C (n.3051-18G>C) c.3222-18G>C (n.3222-18G>C) c.5277-18G>C (n.5277-18G>C) c.5337-18G>C (n.5337-18G>C) c.5232-18G>C (n.5232-18G>C) | gnomAD v4 |
| 2 | g.26461956_26461957insCCAAACACACCCAACAC | CA2749240309 | OTOF | c.5292-19_5292-18insTGTTGGGTGTGTTTGGG (n.5292-19_5292-18insTGTTGGGTGTGTTTGGG) c.2991-19_2991-18insTGTTGGGTGTGTTTGGG (n.2991-19_2991-18insTGTTGGGTGTGTTTGGG) c.3051-19_3051-18insTGTTGGGTGTGTTTGGG (n.3051-19_3051-18insTGTTGGGTGTGTTTGGG) c.3222-19_3222-18insTGTTGGGTGTGTTTGGG (n.3222-19_3222-18insTGTTGGGTGTGTTTGGG) c.5277-19_5277-18insTGTTGGGTGTGTTTGGG (n.5277-19_5277-18insTGTTGGGTGTGTTTGGG) c.5337-19_5337-18insTGTTGGGTGTGTTTGGG (n.5337-19_5337-18insTGTTGGGTGTGTTTGGG) c.5232-19_5232-18insTGTTGGGTGTGTTTGGG (n.5232-19_5232-18insTGTTGGGTGTGTTTGGG) | |
| 2 | g.26461957_26461967dup | CA531761633 | OTOF | c.5292-29_5292-19dup (n.5292-29_5292-19dup) c.2991-29_2991-19dup (n.2991-29_2991-19dup) c.3051-29_3051-19dup (n.3051-29_3051-19dup) c.3222-29_3222-19dup (n.3222-29_3222-19dup) c.5277-29_5277-19dup (n.5277-29_5277-19dup) c.5337-29_5337-19dup (n.5337-29_5337-19dup) c.5232-29_5232-19dup (n.5232-29_5232-19dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461957A>G | CA2697547849 | OTOF | c.5292-20T>C (n.5292-20T>C) c.2991-20T>C (n.2991-20T>C) c.3051-20T>C (n.3051-20T>C) c.3222-20T>C (n.3222-20T>C) c.5277-20T>C (n.5277-20T>C) c.5337-20T>C (n.5337-20T>C) c.5232-20T>C (n.5232-20T>C) | ClinVar |
| 2 | g.26461958G>A | CA44409323 | OTOF | c.5292-21C>T (n.5292-21C>T) c.2991-21C>T (n.2991-21C>T) c.3051-21C>T (n.3051-21C>T) c.3222-21C>T (n.3222-21C>T) c.5277-21C>T (n.5277-21C>T) c.5337-21C>T (n.5337-21C>T) c.5232-21C>T (n.5232-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461958G= | CA1239825509 | OTOF | c.5292-21C= (n.5292-21C=) c.2991-21C= (n.2991-21C=) c.3051-21C= (n.3051-21C=) c.3222-21C= (n.3222-21C=) c.5277-21C= (n.5277-21C=) c.5337-21C= (n.5337-21C=) c.5232-21C= (n.5232-21C=) | |
| 2 | g.26461958_26461987dup | CA2658232670 | OTOF | c.5292-50_5292-21dup (n.5292-50_5292-21dup) c.2991-50_2991-21dup (n.2991-50_2991-21dup) c.3051-50_3051-21dup (n.3051-50_3051-21dup) c.3222-50_3222-21dup (n.3222-50_3222-21dup) c.5277-50_5277-21dup (n.5277-50_5277-21dup) c.5337-50_5337-21dup (n.5337-50_5337-21dup) c.5232-50_5232-21dup (n.5232-50_5232-21dup) | gnomAD v4 |
| 2 | g.26461959A= | CA1239825510 | OTOF | c.5292-22T= (n.5292-22T=) c.2991-22T= (n.2991-22T=) c.3051-22T= (n.3051-22T=) c.3222-22T= (n.3222-22T=) c.5277-22T= (n.5277-22T=) c.5337-22T= (n.5337-22T=) c.5232-22T= (n.5232-22T=) | |
| 2 | g.26461959A>C | CA1239825511 | OTOF | c.5292-22T>G (n.5292-22T>G) c.2991-22T>G (n.2991-22T>G) c.3051-22T>G (n.3051-22T>G) c.3222-22T>G (n.3222-22T>G) c.5277-22T>G (n.5277-22T>G) c.5337-22T>G (n.5337-22T>G) c.5232-22T>G (n.5232-22T>G) | dbSNP |
| 2 | g.26461960C>T | CA2658232671 | OTOF | c.5292-23G>A (n.5292-23G>A) c.2991-23G>A (n.2991-23G>A) c.3051-23G>A (n.3051-23G>A) c.3222-23G>A (n.3222-23G>A) c.5277-23G>A (n.5277-23G>A) c.5337-23G>A (n.5337-23G>A) c.5232-23G>A (n.5232-23G>A) | gnomAD v4 |
| 2 | g.26461961C= | CA1239825512 | OTOF | c.5292-24G= (n.5292-24G=) c.2991-24G= (n.2991-24G=) c.3051-24G= (n.3051-24G=) c.3222-24G= (n.3222-24G=) c.5277-24G= (n.5277-24G=) c.5337-24G= (n.5337-24G=) c.5232-24G= (n.5232-24G=) | |
| 2 | g.26461961C>T | CA44409331 | OTOF | c.5292-24G>A (n.5292-24G>A) c.2991-24G>A (n.2991-24G>A) c.3051-24G>A (n.3051-24G>A) c.3222-24G>A (n.3222-24G>A) c.5277-24G>A (n.5277-24G>A) c.5337-24G>A (n.5337-24G>A) c.5232-24G>A (n.5232-24G>A) | dbSNP |
| 2 | g.26461962C>A | CA1562857 | OTOF | c.5292-25G>T (n.5292-25G>T) c.2991-25G>T (n.2991-25G>T) c.3051-25G>T (n.3051-25G>T) c.3222-25G>T (n.3222-25G>T) c.5277-25G>T (n.5277-25G>T) c.5337-25G>T (n.5337-25G>T) c.5232-25G>T (n.5232-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461962C= | CA1239825513 | OTOF | c.5292-25G= (n.5292-25G=) c.2991-25G= (n.2991-25G=) c.3051-25G= (n.3051-25G=) c.3222-25G= (n.3222-25G=) c.5277-25G= (n.5277-25G=) c.5337-25G= (n.5337-25G=) c.5232-25G= (n.5232-25G=) | |
| 2 | g.26461962C>T | CA1562856 | OTOF | c.5292-25G>A (n.5292-25G>A) c.2991-25G>A (n.2991-25G>A) c.3051-25G>A (n.3051-25G>A) c.3222-25G>A (n.3222-25G>A) c.5277-25G>A (n.5277-25G>A) c.5337-25G>A (n.5337-25G>A) c.5232-25G>A (n.5232-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461963G>A | CA531761634 | OTOF | c.5292-26C>T (n.5292-26C>T) c.2991-26C>T (n.2991-26C>T) c.3051-26C>T (n.3051-26C>T) c.3222-26C>T (n.3222-26C>T) c.5277-26C>T (n.5277-26C>T) c.5337-26C>T (n.5337-26C>T) c.5232-26C>T (n.5232-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461963G= | CA1239825514 | OTOF | c.5292-26C= (n.5292-26C=) c.2991-26C= (n.2991-26C=) c.3051-26C= (n.3051-26C=) c.3222-26C= (n.3222-26C=) c.5277-26C= (n.5277-26C=) c.5337-26C= (n.5337-26C=) c.5232-26C= (n.5232-26C=) | |
| 2 | g.26461964C>T | CA2658232672 | OTOF | c.5292-27G>A (n.5292-27G>A) c.2991-27G>A (n.2991-27G>A) c.3051-27G>A (n.3051-27G>A) c.3222-27G>A (n.3222-27G>A) c.5277-27G>A (n.5277-27G>A) c.5337-27G>A (n.5337-27G>A) c.5232-27G>A (n.5232-27G>A) | gnomAD v4 |
| 2 | g.26461965A>G | CA2658232673 | OTOF | c.5292-28T>C (n.5292-28T>C) c.2991-28T>C (n.2991-28T>C) c.3051-28T>C (n.3051-28T>C) c.3222-28T>C (n.3222-28T>C) c.5277-28T>C (n.5277-28T>C) c.5337-28T>C (n.5337-28T>C) c.5232-28T>C (n.5232-28T>C) | gnomAD v4 |
| 2 | g.26461966G>A | CA2658232674 | OTOF | c.5292-29C>T (n.5292-29C>T) c.2991-29C>T (n.2991-29C>T) c.3051-29C>T (n.3051-29C>T) c.3222-29C>T (n.3222-29C>T) c.5277-29C>T (n.5277-29C>T) c.5337-29C>T (n.5337-29C>T) c.5232-29C>T (n.5232-29C>T) | gnomAD v4 |
| 2 | g.26461967C>G | CA2658232675 | OTOF | c.5292-30G>C (n.5292-30G>C) c.2991-30G>C (n.2991-30G>C) c.3051-30G>C (n.3051-30G>C) c.3222-30G>C (n.3222-30G>C) c.5277-30G>C (n.5277-30G>C) c.5337-30G>C (n.5337-30G>C) c.5232-30G>C (n.5232-30G>C) | gnomAD v4 |
| 2 | g.26461968C>T | CA2658232676 | OTOF | c.5292-31G>A (n.5292-31G>A) c.2991-31G>A (n.2991-31G>A) c.3051-31G>A (n.3051-31G>A) c.3222-31G>A (n.3222-31G>A) c.5277-31G>A (n.5277-31G>A) c.5337-31G>A (n.5337-31G>A) c.5232-31G>A (n.5232-31G>A) | gnomAD v4 |
| 2 | g.26461969A>G | CA2576698815 | OTOF | c.5292-32T>C (n.5292-32T>C) c.2991-32T>C (n.2991-32T>C) c.3051-32T>C (n.3051-32T>C) c.3222-32T>C (n.3222-32T>C) c.5277-32T>C (n.5277-32T>C) c.5337-32T>C (n.5337-32T>C) c.5232-32T>C (n.5232-32T>C) | |
| 2 | g.26461970G>A | CA1562858 | OTOF | c.5292-33C>T (n.5292-33C>T) c.2991-33C>T (n.2991-33C>T) c.3051-33C>T (n.3051-33C>T) c.3222-33C>T (n.3222-33C>T) c.5277-33C>T (n.5277-33C>T) c.5337-33C>T (n.5337-33C>T) c.5232-33C>T (n.5232-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461970G= | CA1239825515 | OTOF | c.5292-33C= (n.5292-33C=) c.2991-33C= (n.2991-33C=) c.3051-33C= (n.3051-33C=) c.3222-33C= (n.3222-33C=) c.5277-33C= (n.5277-33C=) c.5337-33C= (n.5337-33C=) c.5232-33C= (n.5232-33C=) | |
| 2 | g.26461971G>A | CA1028605227 | OTOF | c.5292-34C>T (n.5292-34C>T) c.2991-34C>T (n.2991-34C>T) c.3051-34C>T (n.3051-34C>T) c.3222-34C>T (n.3222-34C>T) c.5277-34C>T (n.5277-34C>T) c.5337-34C>T (n.5337-34C>T) c.5232-34C>T (n.5232-34C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461971G>C | CA2658232677 | OTOF | c.5292-34C>G (n.5292-34C>G) c.2991-34C>G (n.2991-34C>G) c.3051-34C>G (n.3051-34C>G) c.3222-34C>G (n.3222-34C>G) c.5277-34C>G (n.5277-34C>G) c.5337-34C>G (n.5337-34C>G) c.5232-34C>G (n.5232-34C>G) | gnomAD v4 |
| 2 | g.26461971G= | CA1239825516 | OTOF | c.5292-34C= (n.5292-34C=) c.2991-34C= (n.2991-34C=) c.3051-34C= (n.3051-34C=) c.3222-34C= (n.3222-34C=) c.5277-34C= (n.5277-34C=) c.5337-34C= (n.5337-34C=) c.5232-34C= (n.5232-34C=) | |
| 2 | g.26461972C>T | CA2568706792 | OTOF | c.5292-35G>A (n.5292-35G>A) c.2991-35G>A (n.2991-35G>A) c.3051-35G>A (n.3051-35G>A) c.3222-35G>A (n.3222-35G>A) c.5277-35G>A (n.5277-35G>A) c.5337-35G>A (n.5337-35G>A) c.5232-35G>A (n.5232-35G>A) | |
| 2 | g.26461973T>C | CA2698920466 | OTOF | c.5292-36A>G (n.5292-36A>G) c.2991-36A>G (n.2991-36A>G) c.3051-36A>G (n.3051-36A>G) c.3222-36A>G (n.3222-36A>G) c.5277-36A>G (n.5277-36A>G) c.5337-36A>G (n.5337-36A>G) c.5232-36A>G (n.5232-36A>G) | dbSNP |
| 2 | g.26461974G>A | CA2658232678 | OTOF | c.5292-37C>T (n.5292-37C>T) c.2991-37C>T (n.2991-37C>T) c.3051-37C>T (n.3051-37C>T) c.3222-37C>T (n.3222-37C>T) c.5277-37C>T (n.5277-37C>T) c.5337-37C>T (n.5337-37C>T) c.5232-37C>T (n.5232-37C>T) | gnomAD v4 |
| 2 | g.26461974G>T | CA2658232679 | OTOF | c.5292-37C>A (n.5292-37C>A) c.2991-37C>A (n.2991-37C>A) c.3051-37C>A (n.3051-37C>A) c.3222-37C>A (n.3222-37C>A) c.5277-37C>A (n.5277-37C>A) c.5337-37C>A (n.5337-37C>A) c.5232-37C>A (n.5232-37C>A) | gnomAD v4 |
| 2 | g.26461975G>T | CA2658232680 | OTOF | c.5292-38C>A (n.5292-38C>A) c.2991-38C>A (n.2991-38C>A) c.3051-38C>A (n.3051-38C>A) c.3222-38C>A (n.3222-38C>A) c.5277-38C>A (n.5277-38C>A) c.5337-38C>A (n.5337-38C>A) c.5232-38C>A (n.5232-38C>A) | gnomAD v4 |
| 2 | g.26461975_26461976delinsGT | CA1239825517 | OTOF | c.5292-39_5292-38delinsAC (n.5292-39_5292-38delinsAC) c.2991-39_2991-38delinsAC (n.2991-39_2991-38delinsAC) c.3051-39_3051-38delinsAC (n.3051-39_3051-38delinsAC) c.3222-39_3222-38delinsAC (n.3222-39_3222-38delinsAC) c.5277-39_5277-38delinsAC (n.5277-39_5277-38delinsAC) c.5337-39_5337-38delinsAC (n.5337-39_5337-38delinsAC) c.5232-39_5232-38delinsAC (n.5232-39_5232-38delinsAC) | |
| 2 | g.26461976del | CA1562859 | OTOF | c.5292-39del (n.5292-39del) c.2991-39del (n.2991-39del) c.3051-39del (n.3051-39del) c.3222-39del (n.3222-39del) c.5277-39del (n.5277-39del) c.5337-39del (n.5337-39del) c.5232-39del (n.5232-39del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461976T>G | CA1239825518 | OTOF | c.5292-39A>C (n.5292-39A>C) c.2991-39A>C (n.2991-39A>C) c.3051-39A>C (n.3051-39A>C) c.3222-39A>C (n.3222-39A>C) c.5277-39A>C (n.5277-39A>C) c.5337-39A>C (n.5337-39A>C) c.5232-39A>C (n.5232-39A>C) | dbSNP gnomAD v4 |
| 2 | g.26461976T= | CA1239825519 | OTOF | c.5292-39A= (n.5292-39A=) c.2991-39A= (n.2991-39A=) c.3051-39A= (n.3051-39A=) c.3222-39A= (n.3222-39A=) c.5277-39A= (n.5277-39A=) c.5337-39A= (n.5337-39A=) c.5232-39A= (n.5232-39A=) | |
| 2 | g.26461978G>C | CA2658232681 | OTOF | c.5292-41C>G (n.5292-41C>G) c.2991-41C>G (n.2991-41C>G) c.3051-41C>G (n.3051-41C>G) c.3222-41C>G (n.3222-41C>G) c.5277-41C>G (n.5277-41C>G) c.5337-41C>G (n.5337-41C>G) c.5232-41C>G (n.5232-41C>G) | gnomAD v4 |
| 2 | g.26461978G>T | CA2658232682 | OTOF | c.5292-41C>A (n.5292-41C>A) c.2991-41C>A (n.2991-41C>A) c.3051-41C>A (n.3051-41C>A) c.3222-41C>A (n.3222-41C>A) c.5277-41C>A (n.5277-41C>A) c.5337-41C>A (n.5337-41C>A) c.5232-41C>A (n.5232-41C>A) | gnomAD v4 |
| 2 | g.26461979G>A | CA44409350 | OTOF | c.5292-42C>T (n.5292-42C>T) c.2991-42C>T (n.2991-42C>T) c.3051-42C>T (n.3051-42C>T) c.3222-42C>T (n.3222-42C>T) c.5277-42C>T (n.5277-42C>T) c.5337-42C>T (n.5337-42C>T) c.5232-42C>T (n.5232-42C>T) | dbSNP gnomAD v4 |
| 2 | g.26461979G= | CA1239825520 | OTOF | c.5292-42C= (n.5292-42C=) c.2991-42C= (n.2991-42C=) c.3051-42C= (n.3051-42C=) c.3222-42C= (n.3222-42C=) c.5277-42C= (n.5277-42C=) c.5337-42C= (n.5337-42C=) c.5232-42C= (n.5232-42C=) | |
| 2 | g.26461980G>A | CA2749240310 | OTOF | c.5292-43C>T (n.5292-43C>T) c.2991-43C>T (n.2991-43C>T) c.3051-43C>T (n.3051-43C>T) c.3222-43C>T (n.3222-43C>T) c.5277-43C>T (n.5277-43C>T) c.5337-43C>T (n.5337-43C>T) c.5232-43C>T (n.5232-43C>T) | |
| 2 | g.26461980G= | CA1239825521 | OTOF | c.5292-43C= (n.5292-43C=) c.2991-43C= (n.2991-43C=) c.3051-43C= (n.3051-43C=) c.3222-43C= (n.3222-43C=) c.5277-43C= (n.5277-43C=) c.5337-43C= (n.5337-43C=) c.5232-43C= (n.5232-43C=) | |
| 2 | g.26461980G>T | CA531761635 | OTOF | c.5292-43C>A (n.5292-43C>A) c.2991-43C>A (n.2991-43C>A) c.3051-43C>A (n.3051-43C>A) c.3222-43C>A (n.3222-43C>A) c.5277-43C>A (n.5277-43C>A) c.5337-43C>A (n.5337-43C>A) c.5232-43C>A (n.5232-43C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461981C>A | CA531761636 | OTOF | c.5292-44G>T (n.5292-44G>T) c.2991-44G>T (n.2991-44G>T) c.3051-44G>T (n.3051-44G>T) c.3222-44G>T (n.3222-44G>T) c.5277-44G>T (n.5277-44G>T) c.5337-44G>T (n.5337-44G>T) c.5232-44G>T (n.5232-44G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461981C= | CA1239825522 | OTOF | c.5292-44G= (n.5292-44G=) c.2991-44G= (n.2991-44G=) c.3051-44G= (n.3051-44G=) c.3222-44G= (n.3222-44G=) c.5277-44G= (n.5277-44G=) c.5337-44G= (n.5337-44G=) c.5232-44G= (n.5232-44G=) | |
| 2 | g.26461983T>C | CA1239825524 | OTOF | c.5292-46A>G (n.5292-46A>G) c.2991-46A>G (n.2991-46A>G) c.3051-46A>G (n.3051-46A>G) c.3222-46A>G (n.3222-46A>G) c.5277-46A>G (n.5277-46A>G) c.5337-46A>G (n.5337-46A>G) c.5232-46A>G (n.5232-46A>G) | dbSNP gnomAD v4 |
| 2 | g.26461983T= | CA1239825523 | OTOF | c.5292-46A= (n.5292-46A=) c.2991-46A= (n.2991-46A=) c.3051-46A= (n.3051-46A=) c.3222-46A= (n.3222-46A=) c.5277-46A= (n.5277-46A=) c.5337-46A= (n.5337-46A=) c.5232-46A= (n.5232-46A=) | |
| 2 | g.26461985T>C | CA1239825525 | OTOF | c.5292-48A>G (n.5292-48A>G) c.2991-48A>G (n.2991-48A>G) c.3051-48A>G (n.3051-48A>G) c.3222-48A>G (n.3222-48A>G) c.5277-48A>G (n.5277-48A>G) c.5337-48A>G (n.5337-48A>G) c.5232-48A>G (n.5232-48A>G) | dbSNP |
| 2 | g.26461985T= | CA1239825526 | OTOF | c.5292-48A= (n.5292-48A=) c.2991-48A= (n.2991-48A=) c.3051-48A= (n.3051-48A=) c.3222-48A= (n.3222-48A=) c.5277-48A= (n.5277-48A=) c.5337-48A= (n.5337-48A=) c.5232-48A= (n.5232-48A=) | |
| 2 | g.26461987C= | CA1239825527 | OTOF | c.5292-50G= (n.5292-50G=) c.2991-50G= (n.2991-50G=) c.3051-50G= (n.3051-50G=) c.3222-50G= (n.3222-50G=) c.5277-50G= (n.5277-50G=) c.5337-50G= (n.5337-50G=) c.5232-50G= (n.5232-50G=) | |
| 2 | g.26461987C>T | CA1562860 | OTOF | c.5292-50G>A (n.5292-50G>A) c.2991-50G>A (n.2991-50G>A) c.3051-50G>A (n.3051-50G>A) c.3222-50G>A (n.3222-50G>A) c.5277-50G>A (n.5277-50G>A) c.5337-50G>A (n.5337-50G>A) c.5232-50G>A (n.5232-50G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461987_26461988insTACCCACAAACCCAAACA | CA2749240311 | OTOF | c.5292-51_5292-50insTGTTTGGGTTTGTGGGTA (n.5292-51_5292-50insTGTTTGGGTTTGTGGGTA) c.2991-51_2991-50insTGTTTGGGTTTGTGGGTA (n.2991-51_2991-50insTGTTTGGGTTTGTGGGTA) c.3051-51_3051-50insTGTTTGGGTTTGTGGGTA (n.3051-51_3051-50insTGTTTGGGTTTGTGGGTA) c.3222-51_3222-50insTGTTTGGGTTTGTGGGTA (n.3222-51_3222-50insTGTTTGGGTTTGTGGGTA) c.5277-51_5277-50insTGTTTGGGTTTGTGGGTA (n.5277-51_5277-50insTGTTTGGGTTTGTGGGTA) c.5337-51_5337-50insTGTTTGGGTTTGTGGGTA (n.5337-51_5337-50insTGTTTGGGTTTGTGGGTA) c.5232-51_5232-50insTGTTTGGGTTTGTGGGTA (n.5232-51_5232-50insTGTTTGGGTTTGTGGGTA) | |
| 2 | g.26461988C>A | CA2576698816 | OTOF | c.5292-51G>T (n.5292-51G>T) c.2991-51G>T (n.2991-51G>T) c.3051-51G>T (n.3051-51G>T) c.3222-51G>T (n.3222-51G>T) c.5277-51G>T (n.5277-51G>T) c.5337-51G>T (n.5337-51G>T) c.5232-51G>T (n.5232-51G>T) | |
| 2 | g.26461991C>A | CA2658232683 | OTOF | c.5292-54G>T (n.5292-54G>T) c.2991-54G>T (n.2991-54G>T) c.3051-54G>T (n.3051-54G>T) c.3222-54G>T (n.3222-54G>T) c.5277-54G>T (n.5277-54G>T) c.5337-54G>T (n.5337-54G>T) c.5232-54G>T (n.5232-54G>T) | gnomAD v4 |
| 2 | g.26461992C>A | CA2658232684 | OTOF | c.5292-55G>T (n.5292-55G>T) c.2991-55G>T (n.2991-55G>T) c.3051-55G>T (n.3051-55G>T) c.3222-55G>T (n.3222-55G>T) c.5277-55G>T (n.5277-55G>T) c.5337-55G>T (n.5337-55G>T) c.5232-55G>T (n.5232-55G>T) | gnomAD v4 |
| 2 | g.26461993_26461994insACA | CA2749240312 | OTOF | c.5292-55_5292-54insTTG (n.5292-55_5292-54insTTG) c.2991-55_2991-54insTTG (n.2991-55_2991-54insTTG) c.3051-55_3051-54insTTG (n.3051-55_3051-54insTTG) c.3222-55_3222-54insTTG (n.3222-55_3222-54insTTG) c.5277-55_5277-54insTTG (n.5277-55_5277-54insTTG) c.5337-55_5337-54insTTG (n.5337-55_5337-54insTTG) c.5232-55_5232-54insTTG (n.5232-55_5232-54insTTG) | |
| 2 | g.26461994C= | CA1239825528 | OTOF | c.5292-57G= (n.5292-57G=) c.2991-57G= (n.2991-57G=) c.3051-57G= (n.3051-57G=) c.3222-57G= (n.3222-57G=) c.5277-57G= (n.5277-57G=) c.5337-57G= (n.5337-57G=) c.5232-57G= (n.5232-57G=) | |
| 2 | g.26461994C>G | CA2658232685 | OTOF | c.5292-57G>C (n.5292-57G>C) c.2991-57G>C (n.2991-57G>C) c.3051-57G>C (n.3051-57G>C) c.3222-57G>C (n.3222-57G>C) c.5277-57G>C (n.5277-57G>C) c.5337-57G>C (n.5337-57G>C) c.5232-57G>C (n.5232-57G>C) | gnomAD v4 |
| 2 | g.26461994C>T | CA1028605230 | OTOF | c.5292-57G>A (n.5292-57G>A) c.2991-57G>A (n.2991-57G>A) c.3051-57G>A (n.3051-57G>A) c.3222-57G>A (n.3222-57G>A) c.5277-57G>A (n.5277-57G>A) c.5337-57G>A (n.5337-57G>A) c.5232-57G>A (n.5232-57G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461995_26461996insC | CA2658232686 | OTOF | c.5292-59_5292-58insG (n.5292-59_5292-58insG) c.2991-59_2991-58insG (n.2991-59_2991-58insG) c.3051-59_3051-58insG (n.3051-59_3051-58insG) c.3222-59_3222-58insG (n.3222-59_3222-58insG) c.5277-59_5277-58insG (n.5277-59_5277-58insG) c.5337-59_5337-58insG (n.5337-59_5337-58insG) c.5232-59_5232-58insG (n.5232-59_5232-58insG) | gnomAD v4 |
| 2 | g.26461996G>C | CA2658232688 | OTOF | c.5292-59C>G (n.5292-59C>G) c.2991-59C>G (n.2991-59C>G) c.3051-59C>G (n.3051-59C>G) c.3222-59C>G (n.3222-59C>G) c.5277-59C>G (n.5277-59C>G) c.5337-59C>G (n.5337-59C>G) c.5232-59C>G (n.5232-59C>G) | gnomAD v4 |
| 2 | g.26461996G>T | CA2658232687 | OTOF | c.5292-59C>A (n.5292-59C>A) c.2991-59C>A (n.2991-59C>A) c.3051-59C>A (n.3051-59C>A) c.3222-59C>A (n.3222-59C>A) c.5277-59C>A (n.5277-59C>A) c.5337-59C>A (n.5337-59C>A) c.5232-59C>A (n.5232-59C>A) | gnomAD v4 |
| 2 | g.26461997C>A | CA2576698817 | OTOF | c.5292-60G>T (n.5292-60G>T) c.2991-60G>T (n.2991-60G>T) c.3051-60G>T (n.3051-60G>T) c.3222-60G>T (n.3222-60G>T) c.5277-60G>T (n.5277-60G>T) c.5337-60G>T (n.5337-60G>T) c.5232-60G>T (n.5232-60G>T) | |
| 2 | g.26461997C>G | CA2658232689 | OTOF | c.5292-60G>C (n.5292-60G>C) c.2991-60G>C (n.2991-60G>C) c.3051-60G>C (n.3051-60G>C) c.3222-60G>C (n.3222-60G>C) c.5277-60G>C (n.5277-60G>C) c.5337-60G>C (n.5337-60G>C) c.5232-60G>C (n.5232-60G>C) | gnomAD v4 |