Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17612732C>A | CA473305800 | OTOG | c.6441C>A (p.Thr2147=) c.6405C>A (p.Thr2135=) c.3459C>A (p.Thr1153=) | gnomAD v4 |
11 | g.17612732C= | CA1955233102 | OTOG | c.6441C= (p.Thr2147=) c.6405C= (p.Thr2135=) c.3459C= (p.Thr1153=) | |
11 | g.17612732C>G | CA473305801 | OTOG | c.6441C>G (p.Thr2147=) c.6405C>G (p.Thr2135=) c.3459C>G (p.Thr1153=) | |
11 | g.17612732C>T | CA5906024 | OTOG | c.6441C>T (p.Thr2147=) c.6405C>T (p.Thr2135=) c.3459C>T (p.Thr1153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612733G>A | CA379804526 | OTOG | c.6442G>A (p.Val2148Ile) c.6406G>A (p.Val2136Ile) c.3460G>A (p.Val1154Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17612733G>C | CA379804528 | OTOG | c.6442G>C (p.Val2148Leu) c.6406G>C (p.Val2136Leu) c.3460G>C (p.Val1154Leu) | |
11 | g.17612733G= | CA1955233103 | OTOG | c.6442G= (p.Val2148=) c.6406G= (p.Val2136=) c.3460G= (p.Val1154=) | |
11 | g.17612733G>T | CA379804524 | OTOG | c.6442G>T (p.Val2148Phe) c.6406G>T (p.Val2136Phe) c.3460G>T (p.Val1154Phe) | gnomAD v3 gnomAD v4 |
11 | g.17612734T>A | CA379804530 | OTOG | c.6443T>A (p.Val2148Asp) c.6407T>A (p.Val2136Asp) c.3461T>A (p.Val1154Asp) | gnomAD v4 |
11 | g.17612734T>C | CA379804532 | OTOG | c.6443T>C (p.Val2148Ala) c.6407T>C (p.Val2136Ala) c.3461T>C (p.Val1154Ala) | dbSNP gnomAD v4 |
11 | g.17612734T>G | CA379804533 | OTOG | c.6443T>G (p.Val2148Gly) c.6407T>G (p.Val2136Gly) c.3461T>G (p.Val1154Gly) | |
11 | g.17612734T= | CA1955233104 | OTOG | c.6443T= (p.Val2148=) c.6407T= (p.Val2136=) c.3461T= (p.Val1154=) | |
11 | g.17612735C>A | CA218478920 | OTOG | c.6444C>A (p.Val2148=) c.6408C>A (p.Val2136=) c.3462C>A (p.Val1154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612735C= | CA1955233105 | OTOG | c.6444C= (p.Val2148=) c.6408C= (p.Val2136=) c.3462C= (p.Val1154=) | |
11 | g.17612735C>G | CA473305802 | OTOG | c.6444C>G (p.Val2148=) c.6408C>G (p.Val2136=) c.3462C>G (p.Val1154=) | |
11 | g.17612735C>T | CA473305803 | OTOG | c.6444C>T (p.Val2148=) c.6408C>T (p.Val2136=) c.3462C>T (p.Val1154=) | |
11 | g.17612736C>A | CA379804535 | OTOG | c.6445C>A (p.His2149Asn) c.6409C>A (p.His2137Asn) c.3463C>A (p.His1155Asn) | |
11 | g.17612736C= | CA1955233106 | OTOG | c.6445C= (p.His2149=) c.6409C= (p.His2137=) c.3463C= (p.His1155=) | |
11 | g.17612736C>G | CA379804536 | OTOG | c.6445C>G (p.His2149Asp) c.6409C>G (p.His2137Asp) c.3463C>G (p.His1155Asp) | |
11 | g.17612736C>T | CA379804538 | OTOG | c.6445C>T (p.His2149Tyr) c.6409C>T (p.His2137Tyr) c.3463C>T (p.His1155Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612737A>C | CA379804540 | OTOG | c.6446A>C (p.His2149Pro) c.6410A>C (p.His2137Pro) c.3464A>C (p.His1155Pro) | |
11 | g.17612737A>G | CA379804541 | OTOG | c.6446A>G (p.His2149Arg) c.6410A>G (p.His2137Arg) c.3464A>G (p.His1155Arg) | gnomAD v4 |
11 | g.17612737A>T | CA379804542 | OTOG | c.6446A>T (p.His2149Leu) c.6410A>T (p.His2137Leu) c.3464A>T (p.His1155Leu) | |
11 | g.17612738T>A | CA379804544 | OTOG | c.6447T>A (p.His2149Gln) c.6411T>A (p.His2137Gln) c.3465T>A (p.His1155Gln) | gnomAD v4 |
11 | g.17612738T>C | CA473305804 | OTOG | c.6447T>C (p.His2149=) c.6411T>C (p.His2137=) c.3465T>C (p.His1155=) | |
11 | g.17612738T>G | CA5906025 | OTOG | c.6447T>G (p.His2149Gln) c.6411T>G (p.His2137Gln) c.3465T>G (p.His1155Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612738T= | CA1955233107 | OTOG | c.6447T= (p.His2149=) c.6411T= (p.His2137=) c.3465T= (p.His1155=) | |
11 | g.17612739G>A | CA5906026 | OTOG | c.6448G>A (p.Val2150Ile) c.6412G>A (p.Val2138Ile) c.3466G>A (p.Val1156Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17612739G>C | CA379804550 | OTOG | c.6448G>C (p.Val2150Leu) c.6412G>C (p.Val2138Leu) c.3466G>C (p.Val1156Leu) | |
11 | g.17612739G= | CA1955233108 | OTOG | c.6448G= (p.Val2150=) c.6412G= (p.Val2138=) c.3466G= (p.Val1156=) | |
11 | g.17612739G>T | CA379804547 | OTOG | c.6448G>T (p.Val2150Leu) c.6412G>T (p.Val2138Leu) c.3466G>T (p.Val1156Leu) | |
11 | g.17612740T>A | CA379804551 | OTOG | c.6449T>A (p.Val2150Glu) c.6413T>A (p.Val2138Glu) c.3467T>A (p.Val1156Glu) | |
11 | g.17612740T>C | CA379804553 | OTOG | c.6449T>C (p.Val2150Ala) c.6413T>C (p.Val2138Ala) c.3467T>C (p.Val1156Ala) | gnomAD v4 |
11 | g.17612740T>G | CA379804554 | OTOG | c.6449T>G (p.Val2150Gly) c.6413T>G (p.Val2138Gly) c.3467T>G (p.Val1156Gly) | |
11 | g.17612741A>C | CA473305805 | OTOG | c.6450A>C (p.Val2150=) c.6414A>C (p.Val2138=) c.3468A>C (p.Val1156=) | |
11 | g.17612741A>G | CA473305806 | OTOG | c.6450A>G (p.Val2150=) c.6414A>G (p.Val2138=) c.3468A>G (p.Val1156=) | |
11 | g.17612741A>T | CA473305807 | OTOG | c.6450A>T (p.Val2150=) c.6414A>T (p.Val2138=) c.3468A>T (p.Val1156=) | |
11 | g.17612742C>A | CA379804555 | OTOG | c.6451C>A (p.Leu2151Met) c.6415C>A (p.Leu2139Met) c.3469C>A (p.Leu1157Met) | |
11 | g.17612742C>G | CA379804556 | OTOG | c.6451C>G (p.Leu2151Val) c.6415C>G (p.Leu2139Val) c.3469C>G (p.Leu1157Val) | |
11 | g.17612742C>T | CA473305808 | OTOG | c.6451C>T (p.Leu2151=) c.6415C>T (p.Leu2139=) c.3469C>T (p.Leu1157=) | |
11 | g.17612743T>A | CA379804560 | OTOG | c.6452T>A (p.Leu2151Gln) c.6416T>A (p.Leu2139Gln) c.3470T>A (p.Leu1157Gln) | |
11 | g.17612743T>C | CA379804557 | OTOG | c.6452T>C (p.Leu2151Pro) c.6416T>C (p.Leu2139Pro) c.3470T>C (p.Leu1157Pro) | gnomAD v4 |
11 | g.17612743T>G | CA379804558 | OTOG | c.6452T>G (p.Leu2151Arg) c.6416T>G (p.Leu2139Arg) c.3470T>G (p.Leu1157Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612743T= | CA1955233109 | OTOG | c.6452T= (p.Leu2151=) c.6416T= (p.Leu2139=) c.3470T= (p.Leu1157=) | |
11 | g.17612744G>A | CA473305809 | OTOG | c.6453G>A (p.Leu2151=) c.6417G>A (p.Leu2139=) c.3471G>A (p.Leu1157=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612744G>C | CA473305811 | OTOG | c.6453G>C (p.Leu2151=) c.6417G>C (p.Leu2139=) c.3471G>C (p.Leu1157=) | |
11 | g.17612744G= | CA1955233110 | OTOG | c.6453G= (p.Leu2151=) c.6417G= (p.Leu2139=) c.3471G= (p.Leu1157=) | |
11 | g.17612744G>T | CA473305810 | OTOG | c.6453G>T (p.Leu2151=) c.6417G>T (p.Leu2139=) c.3471G>T (p.Leu1157=) | |
11 | g.17612745G>A | CA379804561 | OTOG | c.6454G>A (p.Asp2152Asn) c.6418G>A (p.Asp2140Asn) c.3472G>A (p.Asp1158Asn) | |
11 | g.17612745G>C | CA379804563 | OTOG | c.6454G>C (p.Asp2152His) c.6418G>C (p.Asp2140His) c.3472G>C (p.Asp1158His) | |
11 | g.17612745G>T | CA379804564 | OTOG | c.6454G>T (p.Asp2152Tyr) c.6418G>T (p.Asp2140Tyr) c.3472G>T (p.Asp1158Tyr) | |
11 | g.17612746A= | CA1955233111 | OTOG | c.6455A= (p.Asp2152=) c.6419A= (p.Asp2140=) c.3473A= (p.Asp1158=) | |
11 | g.17612746A>C | CA218478953 | OTOG | c.6455A>C (p.Asp2152Ala) c.6419A>C (p.Asp2140Ala) c.3473A>C (p.Asp1158Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612746A>G | CA379804565 | OTOG | c.6455A>G (p.Asp2152Gly) c.6419A>G (p.Asp2140Gly) c.3473A>G (p.Asp1158Gly) | |
11 | g.17612746A>T | CA379804567 | OTOG | c.6455A>T (p.Asp2152Val) c.6419A>T (p.Asp2140Val) c.3473A>T (p.Asp1158Val) | |
11 | g.17612747C>A | CA379804570 | OTOG | c.6456C>A (p.Asp2152Glu) c.6420C>A (p.Asp2140Glu) c.3474C>A (p.Asp1158Glu) | |
11 | g.17612747C= | CA1955233112 | OTOG | c.6456C= (p.Asp2152=) c.6420C= (p.Asp2140=) c.3474C= (p.Asp1158=) | |
11 | g.17612747C>G | CA218478958 | OTOG | c.6456C>G (p.Asp2152Glu) c.6420C>G (p.Asp2140Glu) c.3474C>G (p.Asp1158Glu) | dbSNP gnomAD v4 |
11 | g.17612747C>T | CA473305812 | OTOG | c.6456C>T (p.Asp2152=) c.6420C>T (p.Asp2140=) c.3474C>T (p.Asp1158=) | |
11 | g.17612748T>A | CA379804572 | OTOG | c.6457T>A (p.Cys2153Ser) c.6421T>A (p.Cys2141Ser) c.3475T>A (p.Cys1159Ser) | gnomAD v4 |
11 | g.17612748T>C | CA379804575 | OTOG | c.6457T>C (p.Cys2153Arg) c.6421T>C (p.Cys2141Arg) c.3475T>C (p.Cys1159Arg) | gnomAD v4 |
11 | g.17612748T>G | CA379804573 | OTOG | c.6457T>G (p.Cys2153Gly) c.6421T>G (p.Cys2141Gly) c.3475T>G (p.Cys1159Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612748T= | CA1955233113 | OTOG | c.6457T= (p.Cys2153=) c.6421T= (p.Cys2141=) c.3475T= (p.Cys1159=) | |
11 | g.17612749G>A | CA379804576 | OTOG | c.6458G>A (p.Cys2153Tyr) c.6422G>A (p.Cys2141Tyr) c.3476G>A (p.Cys1159Tyr) | |
11 | g.17612749G>C | CA379804579 | OTOG | c.6458G>C (p.Cys2153Ser) c.6422G>C (p.Cys2141Ser) c.3476G>C (p.Cys1159Ser) | |
11 | g.17612749G>T | CA379804578 | OTOG | c.6458G>T (p.Cys2153Phe) c.6422G>T (p.Cys2141Phe) c.3476G>T (p.Cys1159Phe) | |
11 | g.17612750C>A | CA379804580 | OTOG | c.6459C>A (p.Cys2153Ter) c.6423C>A (p.Cys2141Ter) c.3477C>A (p.Cys1159Ter) | |
11 | g.17612750C>G | CA379804581 | OTOG | c.6459C>G (p.Cys2153Trp) c.6423C>G (p.Cys2141Trp) c.3477C>G (p.Cys1159Trp) | |
11 | g.17612750C>T | CA473305813 | OTOG | c.6459C>T (p.Cys2153=) c.6423C>T (p.Cys2141=) c.3477C>T (p.Cys1159=) | |
11 | g.17612751A>C | CA379804582 | OTOG | c.6460A>C (p.Lys2154Gln) c.6424A>C (p.Lys2142Gln) c.3478A>C (p.Lys1160Gln) | |
11 | g.17612751A>G | CA379804583 | OTOG | c.6460A>G (p.Lys2154Glu) c.6424A>G (p.Lys2142Glu) c.3478A>G (p.Lys1160Glu) | ClinVar |
11 | g.17612751A>T | CA379804584 | OTOG | c.6460A>T (p.Lys2154Ter) c.6424A>T (p.Lys2142Ter) c.3478A>T (p.Lys1160Ter) | |
11 | g.17612752A= | CA1955233114 | OTOG | c.6461A= (p.Lys2154=) c.6425A= (p.Lys2142=) c.3479A= (p.Lys1160=) | |
11 | g.17612752A>C | CA379804585 | OTOG | c.6461A>C (p.Lys2154Thr) c.6425A>C (p.Lys2142Thr) c.3479A>C (p.Lys1160Thr) | |
11 | g.17612752A>G | CA218478964 | OTOG | c.6461A>G (p.Lys2154Arg) c.6425A>G (p.Lys2142Arg) c.3479A>G (p.Lys1160Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612752A>T | CA379804586 | OTOG | c.6461A>T (p.Lys2154Ile) c.6425A>T (p.Lys2142Ile) c.3479A>T (p.Lys1160Ile) | |
11 | g.17612753A>C | CA379804589 | OTOG | c.6462A>C (p.Lys2154Asn) c.6426A>C (p.Lys2142Asn) c.3480A>C (p.Lys1160Asn) | |
11 | g.17612753A>G | CA473305814 | OTOG | c.6462A>G (p.Lys2154=) c.6426A>G (p.Lys2142=) c.3480A>G (p.Lys1160=) | |
11 | g.17612753A>T | CA379804590 | OTOG | c.6462A>T (p.Lys2154Asn) c.6426A>T (p.Lys2142Asn) c.3480A>T (p.Lys1160Asn) | |
11 | g.17612754A>C | CA379804592 | OTOG | c.6463A>C (p.Ser2155Arg) c.6427A>C (p.Ser2143Arg) c.3481A>C (p.Ser1161Arg) | |
11 | g.17612754A>G | CA379804593 | OTOG | c.6463A>G (p.Ser2155Gly) c.6427A>G (p.Ser2143Gly) c.3481A>G (p.Ser1161Gly) | |
11 | g.17612754A>T | CA379804595 | OTOG | c.6463A>T (p.Ser2155Cys) c.6427A>T (p.Ser2143Cys) c.3481A>T (p.Ser1161Cys) | |
11 | g.17612755del | CA2612686947 | OTOG | c.6464del (p.Ser2155MetfsTer7) c.6428del (p.Ser2143MetfsTer7) c.3482del (p.Ser1161MetfsTer7) | gnomAD v4 |
11 | g.17612755G>A | CA379804601 | OTOG | c.6464G>A (p.Ser2155Asn) c.6428G>A (p.Ser2143Asn) c.3482G>A (p.Ser1161Asn) | gnomAD v4 |
11 | g.17612755G>C | CA379804597 | OTOG | c.6464G>C (p.Ser2155Thr) c.6428G>C (p.Ser2143Thr) c.3482G>C (p.Ser1161Thr) | dbSNP gnomAD v4 |
11 | g.17612755G= | CA1955233115 | OTOG | c.6464G= (p.Ser2155=) c.6428G= (p.Ser2143=) c.3482G= (p.Ser1161=) | |
11 | g.17612755G>T | CA379804599 | OTOG | c.6464G>T (p.Ser2155Ile) c.6428G>T (p.Ser2143Ile) c.3482G>T (p.Ser1161Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612756T>A | CA379804602 | OTOG | c.6465T>A (p.Ser2155Arg) c.6429T>A (p.Ser2143Arg) c.3483T>A (p.Ser1161Arg) | |
11 | g.17612756T>C | CA473305815 | OTOG | c.6465T>C (p.Ser2155=) c.6429T>C (p.Ser2143=) c.3483T>C (p.Ser1161=) | |
11 | g.17612756T>G | CA379804603 | OTOG | c.6465T>G (p.Ser2155Arg) c.6429T>G (p.Ser2143Arg) c.3483T>G (p.Ser1161Arg) | gnomAD v4 |
11 | g.17612757G>A | CA379804605 | OTOG | c.6466G>A (p.Ala2156Thr) c.6430G>A (p.Ala2144Thr) c.3484G>A (p.Ala1162Thr) | |
11 | g.17612757G>C | CA379804607 | OTOG | c.6466G>C (p.Ala2156Pro) c.6430G>C (p.Ala2144Pro) c.3484G>C (p.Ala1162Pro) | |
11 | g.17612757G>T | CA379804609 | OTOG | c.6466G>T (p.Ala2156Ser) c.6430G>T (p.Ala2144Ser) c.3484G>T (p.Ala1162Ser) | |
11 | g.17612758C>A | CA379804610 | OTOG | c.6467C>A (p.Ala2156Asp) c.6431C>A (p.Ala2144Asp) c.3485C>A (p.Ala1162Asp) | |
11 | g.17612758C>G | CA379804612 | OTOG | c.6467C>G (p.Ala2156Gly) c.6431C>G (p.Ala2144Gly) c.3485C>G (p.Ala1162Gly) | |
11 | g.17612758C>T | CA379804613 | OTOG | c.6467C>T (p.Ala2156Val) c.6431C>T (p.Ala2144Val) c.3485C>T (p.Ala1162Val) | gnomAD v4 |
11 | g.17612759C>A | CA473305816 | OTOG | c.6468C>A (p.Ala2156=) c.6432C>A (p.Ala2144=) c.3486C>A (p.Ala1162=) | |
11 | g.17612759C>G | CA473305817 | OTOG | c.6468C>G (p.Ala2156=) c.6432C>G (p.Ala2144=) c.3486C>G (p.Ala1162=) | |
11 | g.17612759C>T | CA473305818 | OTOG | c.6468C>T (p.Ala2156=) c.6432C>T (p.Ala2144=) c.3486C>T (p.Ala1162=) | |
11 | g.17612760A>C | CA379804616 | OTOG | c.6469A>C (p.Asn2157His) c.6433A>C (p.Asn2145His) c.3487A>C (p.Asn1163His) | gnomAD v4 |
11 | g.17612760A>G | CA379804617 | OTOG | c.6469A>G (p.Asn2157Asp) c.6433A>G (p.Asn2145Asp) c.3487A>G (p.Asn1163Asp) | |
11 | g.17612760A>T | CA379804619 | OTOG | c.6469A>T (p.Asn2157Tyr) c.6433A>T (p.Asn2145Tyr) c.3487A>T (p.Asn1163Tyr) | |
11 | g.17612761A= | CA1955233116 | OTOG | c.6470A= (p.Asn2157=) c.6434A= (p.Asn2145=) c.3488A= (p.Asn1163=) | |
11 | g.17612761A>C | CA379804622 | OTOG | c.6470A>C (p.Asn2157Thr) c.6434A>C (p.Asn2145Thr) c.3488A>C (p.Asn1163Thr) | |
11 | g.17612761A>G | CA379804623 | OTOG | c.6470A>G (p.Asn2157Ser) c.6434A>G (p.Asn2145Ser) c.3488A>G (p.Asn1163Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612761A>T | CA379804621 | OTOG | c.6470A>T (p.Asn2157Ile) c.6434A>T (p.Asn2145Ile) c.3488A>T (p.Asn1163Ile) | |
11 | g.17612762C>A | CA379804625 | OTOG | c.6471C>A (p.Asn2157Lys) c.6435C>A (p.Asn2145Lys) c.3489C>A (p.Asn1163Lys) | |
11 | g.17612762C>G | CA379804627 | OTOG | c.6471C>G (p.Asn2157Lys) c.6435C>G (p.Asn2145Lys) c.3489C>G (p.Asn1163Lys) | |
11 | g.17612762C>T | CA473305819 | OTOG | c.6471C>T (p.Asn2157=) c.6435C>T (p.Asn2145=) c.3489C>T (p.Asn1163=) | |
11 | g.17612763C>A | CA379804629 | OTOG | c.6472C>A (p.Leu2158Met) c.6436C>A (p.Leu2146Met) c.3490C>A (p.Leu1164Met) | |
11 | g.17612763C= | CA1955233117 | OTOG | c.6472C= (p.Leu2158=) c.6436C= (p.Leu2146=) c.3490C= (p.Leu1164=) | |
11 | g.17612763C>G | CA379804630 | OTOG | c.6472C>G (p.Leu2158Val) c.6436C>G (p.Leu2146Val) c.3490C>G (p.Leu1164Val) | |
11 | g.17612763C>T | CA473305820 | OTOG | c.6472C>T (p.Leu2158=) c.6436C>T (p.Leu2146=) c.3490C>T (p.Leu1164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612764T>A | CA379804631 | OTOG | c.6473T>A (p.Leu2158Gln) c.6437T>A (p.Leu2146Gln) c.3491T>A (p.Leu1164Gln) | |
11 | g.17612764T>C | CA379804632 | OTOG | c.6473T>C (p.Leu2158Pro) c.6437T>C (p.Leu2146Pro) c.3491T>C (p.Leu1164Pro) | |
11 | g.17612764T>G | CA379804634 | OTOG | c.6473T>G (p.Leu2158Arg) c.6437T>G (p.Leu2146Arg) c.3491T>G (p.Leu1164Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612764T= | CA1955233118 | OTOG | c.6473T= (p.Leu2158=) c.6437T= (p.Leu2146=) c.3491T= (p.Leu1164=) | |
11 | g.17612765G>A | CA473305821 | OTOG | c.6474G>A (p.Leu2158=) c.6438G>A (p.Leu2146=) c.3492G>A (p.Leu1164=) | gnomAD v4 |
11 | g.17612765G>C | CA473305822 | OTOG | c.6474G>C (p.Leu2158=) c.6438G>C (p.Leu2146=) c.3492G>C (p.Leu1164=) | |
11 | g.17612765G>T | CA473305823 | OTOG | c.6474G>T (p.Leu2158=) c.6438G>T (p.Leu2146=) c.3492G>T (p.Leu1164=) | |
11 | g.17612766G>A | CA379804636 | OTOG | c.6474+1G>A (n.6474+1G>A) c.6438+1G>A (n.6438+1G>A) c.3492+1G>A (n.3492+1G>A) | dbSNP gnomAD v4 |
11 | g.17612766G>C | CA379804638 | OTOG | c.6474+1G>C (n.6474+1G>C) c.6438+1G>C (n.6438+1G>C) c.3492+1G>C (n.3492+1G>C) | |
11 | g.17612766G= | CA1955233119 | OTOG | c.6474+1G= (n.6474+1G=) c.6438+1G= (n.6438+1G=) c.3492+1G= (n.3492+1G=) | |
11 | g.17612766G>T | CA379804639 | OTOG | c.6474+1G>T (n.6474+1G>T) c.6438+1G>T (n.6438+1G>T) c.3492+1G>T (n.3492+1G>T) | |
11 | g.17612767T>A | CA379804641 | OTOG | c.6474+2T>A (n.6474+2T>A) c.6438+2T>A (n.6438+2T>A) c.3492+2T>A (n.3492+2T>A) | |
11 | g.17612767T>C | CA379804643 | OTOG | c.6474+2T>C (n.6474+2T>C) c.6438+2T>C (n.6438+2T>C) c.3492+2T>C (n.3492+2T>C) | |
11 | g.17612767T>G | CA379804644 | OTOG | c.6474+2T>G (n.6474+2T>G) c.6438+2T>G (n.6438+2T>G) c.3492+2T>G (n.3492+2T>G) | dbSNP gnomAD v4 |
11 | g.17612767T= | CA1955233120 | OTOG | c.6474+2T= (n.6474+2T=) c.6438+2T= (n.6438+2T=) c.3492+2T= (n.3492+2T=) | |
11 | g.17612768G>A | CA2612686984 | OTOG | c.6474+3G>A (n.6474+3G>A) c.6438+3G>A (n.6438+3G>A) c.3492+3G>A (n.3492+3G>A) | gnomAD v4 |
11 | g.17612768G= | CA1955233121 | OTOG | c.6474+3G= (n.6474+3G=) c.6438+3G= (n.6438+3G=) c.3492+3G= (n.3492+3G=) | |
11 | g.17612768G>T | CA218478971 | OTOG | c.6474+3G>T (n.6474+3G>T) c.6438+3G>T (n.6438+3G>T) c.3492+3G>T (n.3492+3G>T) | dbSNP gnomAD v4 |
11 | g.17612769C= | CA1955233122 | OTOG | c.6474+4C= (n.6474+4C=) c.6438+4C= (n.6438+4C=) c.3492+4C= (n.3492+4C=) | |
11 | g.17612769C>T | CA597672725 | OTOG | c.6474+4C>T (n.6474+4C>T) c.6438+4C>T (n.6438+4C>T) c.3492+4C>T (n.3492+4C>T) | dbSNP gnomAD v2 |
11 | g.17612770C= | CA1955233123 | OTOG | c.6474+5C= (n.6474+5C=) c.6438+5C= (n.6438+5C=) c.3492+5C= (n.3492+5C=) | |
11 | g.17612770C>T | CA935537515 | OTOG | c.6474+5C>T (n.6474+5C>T) c.6438+5C>T (n.6438+5C>T) c.3492+5C>T (n.3492+5C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612771T>C | CA2612686988 | OTOG | c.6474+6T>C (n.6474+6T>C) c.6438+6T>C (n.6438+6T>C) c.3492+6T>C (n.3492+6T>C) | gnomAD v4 |
11 | g.17612773C>A | CA935537522 | OTOG | c.6474+8C>A (n.6474+8C>A) c.6438+8C>A (n.6438+8C>A) c.3492+8C>A (n.3492+8C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612773C= | CA1955233124 | OTOG | c.6474+8C= (n.6474+8C=) c.6438+8C= (n.6438+8C=) c.3492+8C= (n.3492+8C=) | |
11 | g.17612773C>G | CA2612686990 | OTOG | c.6474+8C>G (n.6474+8C>G) c.6438+8C>G (n.6438+8C>G) c.3492+8C>G (n.3492+8C>G) | gnomAD v4 |
11 | g.17612773C>T | CA2612686991 | OTOG | c.6474+8C>T (n.6474+8C>T) c.6438+8C>T (n.6438+8C>T) c.3492+8C>T (n.3492+8C>T) | gnomAD v4 |
11 | g.17612774C>T | CA2574770899 | OTOG | c.6474+9C>T (n.6474+9C>T) c.6438+9C>T (n.6438+9C>T) c.3492+9C>T (n.3492+9C>T) | gnomAD v4 |
11 | g.17612775C>A | CA2790597885 | OTOG | c.6474+10C>A (n.6474+10C>A) c.6438+10C>A (n.6438+10C>A) c.3492+10C>A (n.3492+10C>A) | |
11 | g.17612775C= | CA1955233125 | OTOG | c.6474+10C= (n.6474+10C=) c.6438+10C= (n.6438+10C=) c.3492+10C= (n.3492+10C=) | |
11 | g.17612775C>G | CA674241574 | OTOG | c.6474+10C>G (n.6474+10C>G) c.6438+10C>G (n.6438+10C>G) c.3492+10C>G (n.3492+10C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612775C>T | CA597672728 | OTOG | c.6474+10C>T (n.6474+10C>T) c.6438+10C>T (n.6438+10C>T) c.3492+10C>T (n.3492+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612777A>G | CA2574770900 | OTOG | c.6474+12A>G (n.6474+12A>G) c.6438+12A>G (n.6438+12A>G) c.3492+12A>G (n.3492+12A>G) | gnomAD v4 |
11 | g.17612778T>A | CA2574770901 | OTOG | c.6474+13T>A (n.6474+13T>A) c.6438+13T>A (n.6438+13T>A) c.3492+13T>A (n.3492+13T>A) | |
11 | g.17612778T>C | CA1955233127 | OTOG | c.6474+13T>C (n.6474+13T>C) c.6438+13T>C (n.6438+13T>C) c.3492+13T>C (n.3492+13T>C) | dbSNP |
11 | g.17612778T= | CA1955233126 | OTOG | c.6474+13T= (n.6474+13T=) c.6438+13T= (n.6438+13T=) c.3492+13T= (n.3492+13T=) | |
11 | g.17612779A= | CA1955233128 | OTOG | c.6474+14A= (n.6474+14A=) c.6438+14A= (n.6438+14A=) c.3492+14A= (n.3492+14A=) | |
11 | g.17612779A>C | CA1955233129 | OTOG | c.6474+14A>C (n.6474+14A>C) c.6438+14A>C (n.6438+14A>C) c.3492+14A>C (n.3492+14A>C) | dbSNP |
11 | g.17612779A>G | CA2612687003 | OTOG | c.6474+14A>G (n.6474+14A>G) c.6438+14A>G (n.6438+14A>G) c.3492+14A>G (n.3492+14A>G) | gnomAD v4 |
11 | g.17612780C>A | CA597672729 | OTOG | c.6474+15C>A (n.6474+15C>A) c.6438+15C>A (n.6438+15C>A) c.3492+15C>A (n.3492+15C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612780C= | CA1955233130 | OTOG | c.6474+15C= (n.6474+15C=) c.6438+15C= (n.6438+15C=) c.3492+15C= (n.3492+15C=) | |
11 | g.17612780C>G | CA2574770902 | OTOG | c.6474+15C>G (n.6474+15C>G) c.6438+15C>G (n.6438+15C>G) c.3492+15C>G (n.3492+15C>G) | |
11 | g.17612780C>T | CA2573146180 | OTOG | c.6474+15C>T (n.6474+15C>T) c.6438+15C>T (n.6438+15C>T) c.3492+15C>T (n.3492+15C>T) | ClinVar dbSNP |
11 | g.17612781del | CA2612687008 | OTOG | c.6474+16del (n.6474+16del) c.6438+16del (n.6438+16del) c.3492+16del (n.3492+16del) | gnomAD v4 |
11 | g.17612781C= | CA1955233131 | OTOG | c.6474+16C= (n.6474+16C=) c.6438+16C= (n.6438+16C=) c.3492+16C= (n.3492+16C=) | |
11 | g.17612781C>T | CA674241583 | OTOG | c.6474+16C>T (n.6474+16C>T) c.6438+16C>T (n.6438+16C>T) c.3492+16C>T (n.3492+16C>T) | dbSNP gnomAD v4 |
11 | g.17612783C>A | CA218478984 | OTOG | c.6474+18C>A (n.6474+18C>A) c.6438+18C>A (n.6438+18C>A) c.3492+18C>A (n.3492+18C>A) | dbSNP |
11 | g.17612783C= | CA1955233132 | OTOG | c.6474+18C= (n.6474+18C=) c.6438+18C= (n.6438+18C=) c.3492+18C= (n.3492+18C=) | |
11 | g.17612783C>T | CA1955233133 | OTOG | c.6474+18C>T (n.6474+18C>T) c.6438+18C>T (n.6438+18C>T) c.3492+18C>T (n.3492+18C>T) | dbSNP |
11 | g.17612785C>A | CA2612687016 | OTOG | c.6474+20C>A (n.6474+20C>A) c.6438+20C>A (n.6438+20C>A) c.3492+20C>A (n.3492+20C>A) | gnomAD v4 |
11 | g.17612785C= | CA1955233135 | OTOG | c.6474+20C= (n.6474+20C=) c.6438+20C= (n.6438+20C=) c.3492+20C= (n.3492+20C=) | |
11 | g.17612785C>T | CA1955233134 | OTOG | c.6474+20C>T (n.6474+20C>T) c.6438+20C>T (n.6438+20C>T) c.3492+20C>T (n.3492+20C>T) | dbSNP gnomAD v4 |
11 | g.17612786T>A | CA2612687018 | OTOG | c.6474+21T>A (n.6474+21T>A) c.6438+21T>A (n.6438+21T>A) c.3492+21T>A (n.3492+21T>A) | gnomAD v4 |
11 | g.17612787C>A | CA2790597886 | OTOG | c.6474+22C>A (n.6474+22C>A) c.6438+22C>A (n.6438+22C>A) c.3492+22C>A (n.3492+22C>A) | |
11 | g.17612787C>G | CA2612687019 | OTOG | c.6474+22C>G (n.6474+22C>G) c.6438+22C>G (n.6438+22C>G) c.3492+22C>G (n.3492+22C>G) | gnomAD v4 |
11 | g.17612788C>A | CA597672730 | OTOG | c.6474+23C>A (n.6474+23C>A) c.6438+23C>A (n.6438+23C>A) c.3492+23C>A (n.3492+23C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612788C= | CA1955233136 | OTOG | c.6474+23C= (n.6474+23C=) c.6438+23C= (n.6438+23C=) c.3492+23C= (n.3492+23C=) | |
11 | g.17612788C>T | CA597672732 | OTOG | c.6474+23C>T (n.6474+23C>T) c.6438+23C>T (n.6438+23C>T) c.3492+23C>T (n.3492+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612789C= | CA1955233137 | OTOG | c.6474+24C= (n.6474+24C=) c.6438+24C= (n.6438+24C=) c.3492+24C= (n.3492+24C=) | |
11 | g.17612789C>T | CA674241597 | OTOG | c.6474+24C>T (n.6474+24C>T) c.6438+24C>T (n.6438+24C>T) c.3492+24C>T (n.3492+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612791G>A | CA5906027 | OTOG | c.6474+26G>A (n.6474+26G>A) c.6438+26G>A (n.6438+26G>A) c.3492+26G>A (n.3492+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612791G= | CA1955233138 | OTOG | c.6474+26G= (n.6474+26G=) c.6438+26G= (n.6438+26G=) c.3492+26G= (n.3492+26G=) | |
11 | g.17612794G>A | CA2790597887 | OTOG | c.6474+29G>A (n.6474+29G>A) c.6438+29G>A (n.6438+29G>A) c.3492+29G>A (n.3492+29G>A) | |
11 | g.17612795G>A | CA674241602 | OTOG | c.6474+30G>A (n.6474+30G>A) c.6438+30G>A (n.6438+30G>A) c.3492+30G>A (n.3492+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612795G>C | CA2612687025 | OTOG | c.6474+30G>C (n.6474+30G>C) c.6438+30G>C (n.6438+30G>C) c.3492+30G>C (n.3492+30G>C) | gnomAD v4 |
11 | g.17612795G= | CA1955233139 | OTOG | c.6474+30G= (n.6474+30G=) c.6438+30G= (n.6438+30G=) c.3492+30G= (n.3492+30G=) | |
11 | g.17612795G>T | CA1955233140 | OTOG | c.6474+30G>T (n.6474+30G>T) c.6438+30G>T (n.6438+30G>T) c.3492+30G>T (n.3492+30G>T) | dbSNP gnomAD v4 |
11 | g.17612805_17612816del | CA2574770903 | OTOG | c.6474+40_6474+51del (n.6474+40_6474+51del) c.6438+40_6438+51del (n.6438+40_6438+51del) c.3492+40_3492+51del (n.3492+40_3492+51del) | |
11 | g.17612796G>A | CA2612687029 | OTOG | c.6474+31G>A (n.6474+31G>A) c.6438+31G>A (n.6438+31G>A) c.3492+31G>A (n.3492+31G>A) | gnomAD v4 |
11 | g.17612796G>T | CA2612687032 | OTOG | c.6474+31G>T (n.6474+31G>T) c.6438+31G>T (n.6438+31G>T) c.3492+31G>T (n.3492+31G>T) | gnomAD v4 |
11 | g.17612797G>A | CA218478994 | OTOG | c.6474+32G>A (n.6474+32G>A) c.6438+32G>A (n.6438+32G>A) c.3492+32G>A (n.3492+32G>A) | dbSNP |
11 | g.17612797G= | CA1955233141 | OTOG | c.6474+32G= (n.6474+32G=) c.6438+32G= (n.6438+32G=) c.3492+32G= (n.3492+32G=) | |
11 | g.17612797G>T | CA2612687036 | OTOG | c.6474+32G>T (n.6474+32G>T) c.6438+32G>T (n.6438+32G>T) c.3492+32G>T (n.3492+32G>T) | gnomAD v4 |
11 | g.17612801A= | CA1955233142 | OTOG | c.6474+36A= (n.6474+36A=) c.6438+36A= (n.6438+36A=) c.3492+36A= (n.3492+36A=) | |
11 | g.17612801A>G | CA935537531 | OTOG | c.6474+36A>G (n.6474+36A>G) c.6438+36A>G (n.6438+36A>G) c.3492+36A>G (n.3492+36A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612802G>A | CA2612687038 | OTOG | c.6474+37G>A (n.6474+37G>A) c.6438+37G>A (n.6438+37G>A) c.3492+37G>A (n.3492+37G>A) | gnomAD v4 |
11 | g.17612802G>C | CA2612687037 | OTOG | c.6474+37G>C (n.6474+37G>C) c.6438+37G>C (n.6438+37G>C) c.3492+37G>C (n.3492+37G>C) | gnomAD v4 |
11 | g.17612803G= | CA1955233143 | OTOG | c.6474+38G= (n.6474+38G=) c.6438+38G= (n.6438+38G=) c.3492+38G= (n.3492+38G=) | |
11 | g.17612803G>T | CA674241604 | OTOG | c.6474+38G>T (n.6474+38G>T) c.6438+38G>T (n.6438+38G>T) c.3492+38G>T (n.3492+38G>T) | dbSNP |
11 | g.17612806T>C | CA1955233145 | OTOG | c.6474+41T>C (n.6474+41T>C) c.6438+41T>C (n.6438+41T>C) c.3492+41T>C (n.3492+41T>C) | dbSNP gnomAD v4 |
11 | g.17612806T= | CA1955233144 | OTOG | c.6474+41T= (n.6474+41T=) c.6438+41T= (n.6438+41T=) c.3492+41T= (n.3492+41T=) | |
11 | g.17612807G>A | CA218479000 | OTOG | c.6474+42G>A (n.6474+42G>A) c.6438+42G>A (n.6438+42G>A) c.3492+42G>A (n.3492+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17612807G= | CA1955233146 | OTOG | c.6474+42G= (n.6474+42G=) c.6438+42G= (n.6438+42G=) c.3492+42G= (n.3492+42G=) | |
11 | g.17612807G>T | CA2612687044 | OTOG | c.6474+42G>T (n.6474+42G>T) c.6438+42G>T (n.6438+42G>T) c.3492+42G>T (n.3492+42G>T) | gnomAD v4 |
11 | g.17612809G>T | CA2612687047 | OTOG | c.6474+44G>T (n.6474+44G>T) c.6438+44G>T (n.6438+44G>T) c.3492+44G>T (n.3492+44G>T) | gnomAD v4 |
11 | g.17612810A= | CA1955233147 | OTOG | c.6474+45A= (n.6474+45A=) c.6438+45A= (n.6438+45A=) c.3492+45A= (n.3492+45A=) | |
11 | g.17612810A>C | CA1955233148 | OTOG | c.6474+45A>C (n.6474+45A>C) c.6438+45A>C (n.6438+45A>C) c.3492+45A>C (n.3492+45A>C) | dbSNP |
11 | g.17612811C>A | CA2612687048 | OTOG | c.6474+46C>A (n.6474+46C>A) c.6438+46C>A (n.6438+46C>A) c.3492+46C>A (n.3492+46C>A) | gnomAD v4 |
11 | g.17612813A= | CA1955233149 | OTOG | c.6474+48A= (n.6474+48A=) c.6438+48A= (n.6438+48A=) c.3492+48A= (n.3492+48A=) | |
11 | g.17612813A>G | CA674241605 | OTOG | c.6474+48A>G (n.6474+48A>G) c.6438+48A>G (n.6438+48A>G) c.3492+48A>G (n.3492+48A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612814G>C | CA2612687049 | OTOG | c.6474+49G>C (n.6474+49G>C) c.6438+49G>C (n.6438+49G>C) c.3492+49G>C (n.3492+49G>C) | gnomAD v4 |
11 | g.17612814G>T | CA2612687050 | OTOG | c.6474+49G>T (n.6474+49G>T) c.6438+49G>T (n.6438+49G>T) c.3492+49G>T (n.3492+49G>T) | gnomAD v4 |
11 | g.17612815G>A | CA218479005 | OTOG | c.6474+50G>A (n.6474+50G>A) c.6438+50G>A (n.6438+50G>A) c.3492+50G>A (n.3492+50G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612815G>C | CA597672736 | OTOG | c.6474+50G>C (n.6474+50G>C) c.6438+50G>C (n.6438+50G>C) c.3492+50G>C (n.3492+50G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612815G= | CA1955233150 | OTOG | c.6474+50G= (n.6474+50G=) c.6438+50G= (n.6438+50G=) c.3492+50G= (n.3492+50G=) | |
11 | g.17612816A>G | CA2612687059 | OTOG | c.6474+51A>G (n.6474+51A>G) c.6438+51A>G (n.6438+51A>G) c.3492+51A>G (n.3492+51A>G) | gnomAD v4 |
11 | g.17612816A>T | CA2612687060 | OTOG | c.6474+51A>T (n.6474+51A>T) c.6438+51A>T (n.6438+51A>T) c.3492+51A>T (n.3492+51A>T) | gnomAD v4 |
11 | g.17612817T>A | CA218479008 | OTOG | c.6474+52T>A (n.6474+52T>A) c.6438+52T>A (n.6438+52T>A) c.3492+52T>A (n.3492+52T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612817T= | CA1955233151 | OTOG | c.6474+52T= (n.6474+52T=) c.6438+52T= (n.6438+52T=) c.3492+52T= (n.3492+52T=) | |
11 | g.17612818A>G | CA2612687065 | OTOG | c.6474+53A>G (n.6474+53A>G) c.6438+53A>G (n.6438+53A>G) c.3492+53A>G (n.3492+53A>G) | gnomAD v4 |
11 | g.17612819A= | CA1955233152 | OTOG | c.6474+54A= (n.6474+54A=) c.6438+54A= (n.6438+54A=) c.3492+54A= (n.3492+54A=) | |
11 | g.17612819A>G | CA2612687071 | OTOG | c.6474+54A>G (n.6474+54A>G) c.6438+54A>G (n.6438+54A>G) c.3492+54A>G (n.3492+54A>G) | gnomAD v4 |
11 | g.17612819A>T | CA1955233153 | OTOG | c.6474+54A>T (n.6474+54A>T) c.6438+54A>T (n.6438+54A>T) c.3492+54A>T (n.3492+54A>T) | dbSNP |
11 | g.17612821_17612822del | CA2574770904 | OTOG | c.6474+56_6474+57del (n.6474+56_6474+57del) c.6438+56_6438+57del (n.6438+56_6438+57del) c.3492+56_3492+57del (n.3492+56_3492+57del) | |
11 | g.17612822_17612828dup | CA2612687069 | OTOG | c.6474+57_6474+63dup (n.6474+57_6474+63dup) c.6438+57_6438+63dup (n.6438+57_6438+63dup) c.3492+57_3492+63dup (n.3492+57_3492+63dup) | gnomAD v4 |
11 | g.17612820G>A | CA2723299747 | OTOG | c.6474+55G>A (n.6474+55G>A) c.6438+55G>A (n.6438+55G>A) c.3492+55G>A (n.3492+55G>A) | dbSNP |
11 | g.17612820G>T | CA2612687073 | OTOG | c.6474+55G>T (n.6474+55G>T) c.6438+55G>T (n.6438+55G>T) c.3492+55G>T (n.3492+55G>T) | gnomAD v4 |
11 | g.17612822G>A | CA2612687074 | OTOG | c.6474+57G>A (n.6474+57G>A) c.6438+57G>A (n.6438+57G>A) c.3492+57G>A (n.3492+57G>A) | gnomAD v4 |
11 | g.17612822G>T | CA2612687076 | OTOG | c.6474+57G>T (n.6474+57G>T) c.6438+57G>T (n.6438+57G>T) c.3492+57G>T (n.3492+57G>T) | gnomAD v4 |
11 | g.17612823G>A | CA2612687077 | OTOG | c.6474+58G>A (n.6474+58G>A) c.6438+58G>A (n.6438+58G>A) c.3492+58G>A (n.3492+58G>A) | gnomAD v4 |
11 | g.17612824G>A | CA2612687078 | OTOG | c.6474+59G>A (n.6474+59G>A) c.6438+59G>A (n.6438+59G>A) c.3492+59G>A (n.3492+59G>A) | gnomAD v4 |
11 | g.17612824G>T | CA2612687079 | OTOG | c.6474+59G>T (n.6474+59G>T) c.6438+59G>T (n.6438+59G>T) c.3492+59G>T (n.3492+59G>T) | gnomAD v4 |
11 | g.17612825G>T | CA2612687080 | OTOG | c.6474+60G>T (n.6474+60G>T) c.6438+60G>T (n.6438+60G>T) c.3492+60G>T (n.3492+60G>T) | gnomAD v4 |
11 | g.17612827G>A | CA674241618 | OTOG | c.6474+62G>A (n.6474+62G>A) c.6438+62G>A (n.6438+62G>A) c.3492+62G>A (n.3492+62G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612827G= | CA1955233154 | OTOG | c.6474+62G= (n.6474+62G=) c.6438+62G= (n.6438+62G=) c.3492+62G= (n.3492+62G=) | |
11 | g.17612829C>A | CA2612687081 | OTOG | c.6474+64C>A (n.6474+64C>A) c.6438+64C>A (n.6438+64C>A) c.3492+64C>A (n.3492+64C>A) | gnomAD v4 |
11 | g.17612829C= | CA1955233155 | OTOG | c.6474+64C= (n.6474+64C=) c.6438+64C= (n.6438+64C=) c.3492+64C= (n.3492+64C=) | |
11 | g.17612829C>T | CA218479015 | OTOG | c.6474+64C>T (n.6474+64C>T) c.6438+64C>T (n.6438+64C>T) c.3492+64C>T (n.3492+64C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.17612830G>A | CA218479028 | OTOG | c.6474+65G>A (n.6474+65G>A) c.6438+65G>A (n.6438+65G>A) c.3492+65G>A (n.3492+65G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17612830G= | CA1955233156 | OTOG | c.6474+65G= (n.6474+65G=) c.6438+65G= (n.6438+65G=) c.3492+65G= (n.3492+65G=) | |
11 | g.17612830G>T | CA2574770905 | OTOG | c.6474+65G>T (n.6474+65G>T) c.6438+65G>T (n.6438+65G>T) c.3492+65G>T (n.3492+65G>T) | gnomAD v4 |
11 | g.17612831G>A | CA935537547 | OTOG | c.6474+66G>A (n.6474+66G>A) c.6438+66G>A (n.6438+66G>A) c.3492+66G>A (n.3492+66G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17612831G= | CA1955233157 | OTOG | c.6474+66G= (n.6474+66G=) c.6438+66G= (n.6438+66G=) c.3492+66G= (n.3492+66G=) | |
11 | g.17612831G>T | CA2612687088 | OTOG | c.6474+66G>T (n.6474+66G>T) c.6438+66G>T (n.6438+66G>T) c.3492+66G>T (n.3492+66G>T) | gnomAD v4 |
11 | g.17612832A>G | CA2574770906 | OTOG | c.6474+67A>G (n.6474+67A>G) c.6438+67A>G (n.6438+67A>G) c.3492+67A>G (n.3492+67A>G) | gnomAD v4 |