| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461756G>A | CA346131372 | OTOF | c.5473C>T (p.Pro1825Ser) c.3172C>T (p.Pro1058Ser) c.3232C>T (p.Pro1078Ser) c.3403C>T (p.Pro1135Ser) c.5458C>T (p.Pro1820Ser) c.5518C>T (p.Pro1840Ser) c.5413C>T (p.Pro1805Ser) | gnomAD v4 |
| 2 | g.26461756G>C | CA340527 | OTOF | c.5473C>G (p.Pro1825Ala) c.3172C>G (p.Pro1058Ala) c.3232C>G (p.Pro1078Ala) c.3403C>G (p.Pro1135Ala) c.5458C>G (p.Pro1820Ala) c.5518C>G (p.Pro1840Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP |
| 2 | g.26461756G= | CA1239825412 | OTOF | c.5473C= (p.Pro1825=) c.3172C= (p.Pro1058=) c.3232C= (p.Pro1078=) c.3403C= (p.Pro1135=) c.5458C= (p.Pro1820=) c.5518C= (p.Pro1840=) c.5413C= (p.Pro1805=) | |
| 2 | g.26461756G>T | CA346131373 | OTOF | c.5473C>A (p.Pro1825Thr) c.3172C>A (p.Pro1058Thr) c.3232C>A (p.Pro1078Thr) c.3403C>A (p.Pro1135Thr) c.5458C>A (p.Pro1820Thr) c.5518C>A (p.Pro1840Thr) c.5413C>A (p.Pro1805Thr) | |
| 2 | g.26461757G>A | CA1562815 | OTOF | c.5472C>T (p.Ile1824=) c.3171C>T (p.Ile1057=) c.3231C>T (p.Ile1077=) c.3402C>T (p.Ile1134=) c.5457C>T (p.Ile1819=) c.5517C>T (p.Ile1839=) c.5412C>T (p.Ile1804=) | dbSNP ExAC gnomAD v4 |
| 2 | g.26461757G>C | CA346131374 | OTOF | c.5472C>G (p.Ile1824Met) c.3171C>G (p.Ile1057Met) c.3231C>G (p.Ile1077Met) c.3402C>G (p.Ile1134Met) c.5457C>G (p.Ile1819Met) c.5517C>G (p.Ile1839Met) c.5412C>G (p.Ile1804Met) | |
| 2 | g.26461757G= | CA1239825413 | OTOF | c.5472C= (p.Ile1824=) c.3171C= (p.Ile1057=) c.3231C= (p.Ile1077=) c.3402C= (p.Ile1134=) c.5457C= (p.Ile1819=) c.5517C= (p.Ile1839=) c.5412C= (p.Ile1804=) | |
| 2 | g.26461757G>T | CA425359307 | OTOF | c.5472C>A (p.Ile1824=) c.3171C>A (p.Ile1057=) c.3231C>A (p.Ile1077=) c.3402C>A (p.Ile1134=) c.5457C>A (p.Ile1819=) c.5517C>A (p.Ile1839=) c.5412C>A (p.Ile1804=) | gnomAD v4 |
| 2 | g.26461758A= | CA1239825414 | OTOF | c.5471T= (p.Ile1824=) c.3170T= (p.Ile1057=) c.3230T= (p.Ile1077=) c.3401T= (p.Ile1134=) c.5456T= (p.Ile1819=) c.5516T= (p.Ile1839=) c.5411T= (p.Ile1804=) | |
| 2 | g.26461758A>C | CA346131375 | OTOF | c.5471T>G (p.Ile1824Ser) c.3170T>G (p.Ile1057Ser) c.3230T>G (p.Ile1077Ser) c.3401T>G (p.Ile1134Ser) c.5456T>G (p.Ile1819Ser) c.5516T>G (p.Ile1839Ser) c.5411T>G (p.Ile1804Ser) | |
| 2 | g.26461758A>G | CA346131376 | OTOF | c.5471T>C (p.Ile1824Thr) c.3170T>C (p.Ile1057Thr) c.3230T>C (p.Ile1077Thr) c.3401T>C (p.Ile1134Thr) c.5456T>C (p.Ile1819Thr) c.5516T>C (p.Ile1839Thr) c.5411T>C (p.Ile1804Thr) | |
| 2 | g.26461758A>T | CA1562816 | OTOF | c.5471T>A (p.Ile1824Asn) c.3170T>A (p.Ile1057Asn) c.3230T>A (p.Ile1077Asn) c.3401T>A (p.Ile1134Asn) c.5456T>A (p.Ile1819Asn) c.5516T>A (p.Ile1839Asn) c.5411T>A (p.Ile1804Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461759T>A | CA346131377 | OTOF | c.5470A>T (p.Ile1824Phe) c.3169A>T (p.Ile1057Phe) c.3229A>T (p.Ile1077Phe) c.3400A>T (p.Ile1134Phe) c.5455A>T (p.Ile1819Phe) c.5515A>T (p.Ile1839Phe) c.5410A>T (p.Ile1804Phe) | |
| 2 | g.26461759T>C | CA346131378 | OTOF | c.5470A>G (p.Ile1824Val) c.3169A>G (p.Ile1057Val) c.3229A>G (p.Ile1077Val) c.3400A>G (p.Ile1134Val) c.5455A>G (p.Ile1819Val) c.5515A>G (p.Ile1839Val) c.5410A>G (p.Ile1804Val) | |
| 2 | g.26461759T>G | CA346131379 | OTOF | c.5470A>C (p.Ile1824Leu) c.3169A>C (p.Ile1057Leu) c.3229A>C (p.Ile1077Leu) c.3400A>C (p.Ile1134Leu) c.5455A>C (p.Ile1819Leu) c.5515A>C (p.Ile1839Leu) c.5410A>C (p.Ile1804Leu) | gnomAD v4 |
| 2 | g.26461760C>A | CA346131380 | OTOF | c.5469G>T (p.Lys1823Asn) c.3168G>T (p.Lys1056Asn) c.3228G>T (p.Lys1076Asn) c.3399G>T (p.Lys1133Asn) c.5454G>T (p.Lys1818Asn) c.5514G>T (p.Lys1838Asn) c.5409G>T (p.Lys1803Asn) | |
| 2 | g.26461760C>G | CA346131381 | OTOF | c.5469G>C (p.Lys1823Asn) c.3168G>C (p.Lys1056Asn) c.3228G>C (p.Lys1076Asn) c.3399G>C (p.Lys1133Asn) c.5454G>C (p.Lys1818Asn) c.5514G>C (p.Lys1838Asn) c.5409G>C (p.Lys1803Asn) | gnomAD v4 |
| 2 | g.26461760C>T | CA425359314 | OTOF | c.5469G>A (p.Lys1823=) c.3168G>A (p.Lys1056=) c.3228G>A (p.Lys1076=) c.3399G>A (p.Lys1133=) c.5454G>A (p.Lys1818=) c.5514G>A (p.Lys1838=) c.5409G>A (p.Lys1803=) | ClinVar |
| 2 | g.26461761T>A | CA346131383 | OTOF | c.5468A>T (p.Lys1823Met) c.3167A>T (p.Lys1056Met) c.3227A>T (p.Lys1076Met) c.3398A>T (p.Lys1133Met) c.5453A>T (p.Lys1818Met) c.5513A>T (p.Lys1838Met) c.5408A>T (p.Lys1803Met) | |
| 2 | g.26461761T>C | CA1562817 | OTOF | c.5468A>G (p.Lys1823Arg) c.3167A>G (p.Lys1056Arg) c.3227A>G (p.Lys1076Arg) c.3398A>G (p.Lys1133Arg) c.5453A>G (p.Lys1818Arg) c.5513A>G (p.Lys1838Arg) c.5408A>G (p.Lys1803Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461761T>G | CA346131382 | OTOF | c.5468A>C (p.Lys1823Thr) c.3167A>C (p.Lys1056Thr) c.3227A>C (p.Lys1076Thr) c.3398A>C (p.Lys1133Thr) c.5453A>C (p.Lys1818Thr) c.5513A>C (p.Lys1838Thr) c.5408A>C (p.Lys1803Thr) | |
| 2 | g.26461761T= | CA1239825415 | OTOF | c.5468A= (p.Lys1823=) c.3167A= (p.Lys1056=) c.3227A= (p.Lys1076=) c.3398A= (p.Lys1133=) c.5453A= (p.Lys1818=) c.5513A= (p.Lys1838=) c.5408A= (p.Lys1803=) | |
| 2 | g.26461762T>A | CA346131384 | OTOF | c.5467A>T (p.Lys1823Ter) c.3166A>T (p.Lys1056Ter) c.3226A>T (p.Lys1076Ter) c.3397A>T (p.Lys1133Ter) c.5452A>T (p.Lys1818Ter) c.5512A>T (p.Lys1838Ter) c.5407A>T (p.Lys1803Ter) | |
| 2 | g.26461762T>C | CA1562818 | OTOF | c.5467A>G (p.Lys1823Glu) c.3166A>G (p.Lys1056Glu) c.3226A>G (p.Lys1076Glu) c.3397A>G (p.Lys1133Glu) c.5452A>G (p.Lys1818Glu) c.5512A>G (p.Lys1838Glu) c.5407A>G (p.Lys1803Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461762T>G | CA346131385 | OTOF | c.5467A>C (p.Lys1823Gln) c.3166A>C (p.Lys1056Gln) c.3226A>C (p.Lys1076Gln) c.3397A>C (p.Lys1133Gln) c.5452A>C (p.Lys1818Gln) c.5512A>C (p.Lys1838Gln) c.5407A>C (p.Lys1803Gln) | |
| 2 | g.26461762T= | CA1239825416 | OTOF | c.5467A= (p.Lys1823=) c.3166A= (p.Lys1056=) c.3226A= (p.Lys1076=) c.3397A= (p.Lys1133=) c.5452A= (p.Lys1818=) c.5512A= (p.Lys1838=) c.5407A= (p.Lys1803=) | |
| 2 | g.26461763G>A | CA1562819 | OTOF | c.5466C>T (p.Tyr1822=) c.3165C>T (p.Tyr1055=) c.3225C>T (p.Tyr1075=) c.3396C>T (p.Tyr1132=) c.5451C>T (p.Tyr1817=) c.5511C>T (p.Tyr1837=) c.5406C>T (p.Tyr1802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461763G>C | CA346131386 | OTOF | c.5466C>G (p.Tyr1822Ter) c.3165C>G (p.Tyr1055Ter) c.3225C>G (p.Tyr1075Ter) c.3396C>G (p.Tyr1132Ter) c.5451C>G (p.Tyr1817Ter) c.5511C>G (p.Tyr1837Ter) c.5406C>G (p.Tyr1802Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26461763G= | CA1239825417 | OTOF | c.5466C= (p.Tyr1822=) c.3165C= (p.Tyr1055=) c.3225C= (p.Tyr1075=) c.3396C= (p.Tyr1132=) c.5451C= (p.Tyr1817=) c.5511C= (p.Tyr1837=) c.5406C= (p.Tyr1802=) | |
| 2 | g.26461763G>T | CA346131387 | OTOF | c.5466C>A (p.Tyr1822Ter) c.3165C>A (p.Tyr1055Ter) c.3225C>A (p.Tyr1075Ter) c.3396C>A (p.Tyr1132Ter) c.5451C>A (p.Tyr1817Ter) c.5511C>A (p.Tyr1837Ter) c.5406C>A (p.Tyr1802Ter) | |
| 2 | g.26461764T>A | CA346131388 | OTOF | c.5465A>T (p.Tyr1822Phe) c.3164A>T (p.Tyr1055Phe) c.3224A>T (p.Tyr1075Phe) c.3395A>T (p.Tyr1132Phe) c.5450A>T (p.Tyr1817Phe) c.5510A>T (p.Tyr1837Phe) c.5405A>T (p.Tyr1802Phe) | |
| 2 | g.26461764T>C | CA346131389 | OTOF | c.5465A>G (p.Tyr1822Cys) c.3164A>G (p.Tyr1055Cys) c.3224A>G (p.Tyr1075Cys) c.3395A>G (p.Tyr1132Cys) c.5450A>G (p.Tyr1817Cys) c.5510A>G (p.Tyr1837Cys) c.5405A>G (p.Tyr1802Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461764T>G | CA346131390 | OTOF | c.5465A>C (p.Tyr1822Ser) c.3164A>C (p.Tyr1055Ser) c.3224A>C (p.Tyr1075Ser) c.3395A>C (p.Tyr1132Ser) c.5450A>C (p.Tyr1817Ser) c.5510A>C (p.Tyr1837Ser) c.5405A>C (p.Tyr1802Ser) | |
| 2 | g.26461764T= | CA1239825418 | OTOF | c.5465A= (p.Tyr1822=) c.3164A= (p.Tyr1055=) c.3224A= (p.Tyr1075=) c.3395A= (p.Tyr1132=) c.5450A= (p.Tyr1817=) c.5510A= (p.Tyr1837=) c.5405A= (p.Tyr1802=) | |
| 2 | g.26461765A>C | CA346131391 | OTOF | c.5464T>G (p.Tyr1822Asp) c.3163T>G (p.Tyr1055Asp) c.3223T>G (p.Tyr1075Asp) c.3394T>G (p.Tyr1132Asp) c.5449T>G (p.Tyr1817Asp) c.5509T>G (p.Tyr1837Asp) c.5404T>G (p.Tyr1802Asp) | gnomAD v4 |
| 2 | g.26461765A>G | CA346131392 | OTOF | c.5464T>C (p.Tyr1822His) c.3163T>C (p.Tyr1055His) c.3223T>C (p.Tyr1075His) c.3394T>C (p.Tyr1132His) c.5449T>C (p.Tyr1817His) c.5509T>C (p.Tyr1837His) c.5404T>C (p.Tyr1802His) | |
| 2 | g.26461765A>T | CA346131393 | OTOF | c.5464T>A (p.Tyr1822Asn) c.3163T>A (p.Tyr1055Asn) c.3223T>A (p.Tyr1075Asn) c.3394T>A (p.Tyr1132Asn) c.5449T>A (p.Tyr1817Asn) c.5509T>A (p.Tyr1837Asn) c.5404T>A (p.Tyr1802Asn) | |
| 2 | g.26461766C>A | CA346131394 | OTOF | c.5463G>T (p.Glu1821Asp) c.3162G>T (p.Glu1054Asp) c.3222G>T (p.Glu1074Asp) c.3393G>T (p.Glu1131Asp) c.5448G>T (p.Glu1816Asp) c.5508G>T (p.Glu1836Asp) c.5403G>T (p.Glu1801Asp) | |
| 2 | g.26461766C= | CA1239825419 | OTOF | c.5463G= (p.Glu1821=) c.3162G= (p.Glu1054=) c.3222G= (p.Glu1074=) c.3393G= (p.Glu1131=) c.5448G= (p.Glu1816=) c.5508G= (p.Glu1836=) c.5403G= (p.Glu1801=) | |
| 2 | g.26461766C>G | CA346131395 | OTOF | c.5463G>C (p.Glu1821Asp) c.3162G>C (p.Glu1054Asp) c.3222G>C (p.Glu1074Asp) c.3393G>C (p.Glu1131Asp) c.5448G>C (p.Glu1816Asp) c.5508G>C (p.Glu1836Asp) c.5403G>C (p.Glu1801Asp) | gnomAD v4 |
| 2 | g.26461766C>T | CA425359322 | OTOF | c.5463G>A (p.Glu1821=) c.3162G>A (p.Glu1054=) c.3222G>A (p.Glu1074=) c.3393G>A (p.Glu1131=) c.5448G>A (p.Glu1816=) c.5508G>A (p.Glu1836=) c.5403G>A (p.Glu1801=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461767del | CA2658232620 | OTOF | c.5462del (p.Glu1821GlyfsTer?) c.3161del (p.Glu1054GlyfsTer?) c.3221del (p.Glu1074GlyfsTer?) c.3392del (p.Glu1131GlyfsTer?) c.5447del (p.Glu1816GlyfsTer?) c.5507del (p.Glu1836GlyfsTer?) c.5402del (p.Glu1801GlyfsTer?) | gnomAD v4 |
| 2 | g.26461767T>A | CA346131396 | OTOF | c.5462A>T (p.Glu1821Val) c.3161A>T (p.Glu1054Val) c.3221A>T (p.Glu1074Val) c.3392A>T (p.Glu1131Val) c.5447A>T (p.Glu1816Val) c.5507A>T (p.Glu1836Val) c.5402A>T (p.Glu1801Val) | |
| 2 | g.26461767T>C | CA346131398 | OTOF | c.5462A>G (p.Glu1821Gly) c.3161A>G (p.Glu1054Gly) c.3221A>G (p.Glu1074Gly) c.3392A>G (p.Glu1131Gly) c.5447A>G (p.Glu1816Gly) c.5507A>G (p.Glu1836Gly) c.5402A>G (p.Glu1801Gly) | |
| 2 | g.26461767T>G | CA346131397 | OTOF | c.5462A>C (p.Glu1821Ala) c.3161A>C (p.Glu1054Ala) c.3221A>C (p.Glu1074Ala) c.3392A>C (p.Glu1131Ala) c.5447A>C (p.Glu1816Ala) c.5507A>C (p.Glu1836Ala) c.5402A>C (p.Glu1801Ala) | |
| 2 | g.26461768C>A | CA346131399 | OTOF | c.5461G>T (p.Glu1821Ter) c.3160G>T (p.Glu1054Ter) c.3220G>T (p.Glu1074Ter) c.3391G>T (p.Glu1131Ter) c.5446G>T (p.Glu1816Ter) c.5506G>T (p.Glu1836Ter) c.5401G>T (p.Glu1801Ter) | |
| 2 | g.26461768C= | CA1239825420 | OTOF | c.5461G= (p.Glu1821=) c.3160G= (p.Glu1054=) c.3220G= (p.Glu1074=) c.3391G= (p.Glu1131=) c.5446G= (p.Glu1816=) c.5506G= (p.Glu1836=) c.5401G= (p.Glu1801=) | |
| 2 | g.26461768C>G | CA346131400 | OTOF | c.5461G>C (p.Glu1821Gln) c.3160G>C (p.Glu1054Gln) c.3220G>C (p.Glu1074Gln) c.3391G>C (p.Glu1131Gln) c.5446G>C (p.Glu1816Gln) c.5506G>C (p.Glu1836Gln) c.5401G>C (p.Glu1801Gln) | |
| 2 | g.26461768C>T | CA1562820 | OTOF | c.5461G>A (p.Glu1821Lys) c.3160G>A (p.Glu1054Lys) c.3220G>A (p.Glu1074Lys) c.3391G>A (p.Glu1131Lys) c.5446G>A (p.Glu1816Lys) c.5506G>A (p.Glu1836Lys) c.5401G>A (p.Glu1801Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461769G>A | CA1562821 | OTOF | c.5460C>T (p.Thr1820=) c.3159C>T (p.Thr1053=) c.3219C>T (p.Thr1073=) c.3390C>T (p.Thr1130=) c.5445C>T (p.Thr1815=) c.5505C>T (p.Thr1835=) c.5400C>T (p.Thr1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |