Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17594048G>A | CA379783512 | OTOG | c.3326G>A (p.Gly1109Asp) c.3290G>A (p.Gly1097Asp) c.371G>A (p.Gly124Asp) | gnomAD v4 |
11 | g.17594048G>C | CA379783513 | OTOG | c.3326G>C (p.Gly1109Ala) c.3290G>C (p.Gly1097Ala) c.371G>C (p.Gly124Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594048G= | CA1955217104 | OTOG | c.3326G= (p.Gly1109=) c.3290G= (p.Gly1097=) c.371G= (p.Gly124=) | |
11 | g.17594048G>T | CA379783516 | OTOG | c.3326G>T (p.Gly1109Val) c.3290G>T (p.Gly1097Val) c.371G>T (p.Gly124Val) | |
11 | g.17594049C>A | CA473302470 | OTOG | c.3327C>A (p.Gly1109=) c.3291C>A (p.Gly1097=) c.372C>A (p.Gly124=) | |
11 | g.17594049C>G | CA473302474 | OTOG | c.3327C>G (p.Gly1109=) c.3291C>G (p.Gly1097=) c.372C>G (p.Gly124=) | |
11 | g.17594049C>T | CA473302472 | OTOG | c.3327C>T (p.Gly1109=) c.3291C>T (p.Gly1097=) c.372C>T (p.Gly124=) | gnomAD v4 |
11 | g.17594050C>A | CA379783521 | OTOG | c.3328C>A (p.Gln1110Lys) c.3292C>A (p.Gln1098Lys) c.373C>A (p.Gln125Lys) | |
11 | g.17594050C= | CA1955217105 | OTOG | c.3328C= (p.Gln1110=) c.3292C= (p.Gln1098=) c.373C= (p.Gln125=) | |
11 | g.17594050C>G | CA379783523 | OTOG | c.3328C>G (p.Gln1110Glu) c.3292C>G (p.Gln1098Glu) c.373C>G (p.Gln125Glu) | |
11 | g.17594050C>T | CA5905723 | OTOG | c.3328C>T (p.Gln1110Ter) c.3292C>T (p.Gln1098Ter) c.373C>T (p.Gln125Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17594051A>C | CA379783525 | OTOG | c.3329A>C (p.Gln1110Pro) c.3293A>C (p.Gln1098Pro) c.374A>C (p.Gln125Pro) | |
11 | g.17594051A>G | CA379783526 | OTOG | c.3329A>G (p.Gln1110Arg) c.3293A>G (p.Gln1098Arg) c.374A>G (p.Gln125Arg) | |
11 | g.17594051A>T | CA379783528 | OTOG | c.3329A>T (p.Gln1110Leu) c.3293A>T (p.Gln1098Leu) c.374A>T (p.Gln125Leu) | |
11 | g.17594052G>A | CA473302479 | OTOG | c.3330G>A (p.Gln1110=) c.3294G>A (p.Gln1098=) c.375G>A (p.Gln125=) | dbSNP |
11 | g.17594052G>C | CA379783534 | OTOG | c.3330G>C (p.Gln1110His) c.3294G>C (p.Gln1098His) c.375G>C (p.Gln125His) | |
11 | g.17594052G= | CA1955217106 | OTOG | c.3330G= (p.Gln1110=) c.3294G= (p.Gln1098=) c.375G= (p.Gln125=) | |
11 | g.17594052G>T | CA379783538 | OTOG | c.3330G>T (p.Gln1110His) c.3294G>T (p.Gln1098His) c.375G>T (p.Gln125His) | |
11 | g.17594053C>A | CA379783541 | OTOG | c.3331C>A (p.Leu1111Met) c.3295C>A (p.Leu1099Met) c.376C>A (p.Leu126Met) | |
11 | g.17594053C>G | CA379783542 | OTOG | c.3331C>G (p.Leu1111Val) c.3295C>G (p.Leu1099Val) c.376C>G (p.Leu126Val) | |
11 | g.17594053C>T | CA473302482 | OTOG | c.3331C>T (p.Leu1111=) c.3295C>T (p.Leu1099=) c.376C>T (p.Leu126=) | |
11 | g.17594054T>A | CA379783547 | OTOG | c.3332T>A (p.Leu1111Gln) c.3296T>A (p.Leu1099Gln) c.377T>A (p.Leu126Gln) | |
11 | g.17594054T>C | CA379783545 | OTOG | c.3332T>C (p.Leu1111Pro) c.3296T>C (p.Leu1099Pro) c.377T>C (p.Leu126Pro) | |
11 | g.17594054T>G | CA379783543 | OTOG | c.3332T>G (p.Leu1111Arg) c.3296T>G (p.Leu1099Arg) c.377T>G (p.Leu126Arg) | dbSNP |
11 | g.17594054T= | CA1955217107 | OTOG | c.3332T= (p.Leu1111=) c.3296T= (p.Leu1099=) c.377T= (p.Leu126=) | |
11 | g.17594055G>A | CA473302489 | OTOG | c.3333G>A (p.Leu1111=) c.3297G>A (p.Leu1099=) c.378G>A (p.Leu126=) | |
11 | g.17594055G>C | CA473302490 | OTOG | c.3333G>C (p.Leu1111=) c.3297G>C (p.Leu1099=) c.378G>C (p.Leu126=) | |
11 | g.17594055G>T | CA473302491 | OTOG | c.3333G>T (p.Leu1111=) c.3297G>T (p.Leu1099=) c.378G>T (p.Leu126=) | |
11 | g.17594056G>A | CA379783550 | OTOG | c.3334G>A (p.Ala1112Thr) c.3298G>A (p.Ala1100Thr) c.379G>A (p.Ala127Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594056G>C | CA379783554 | OTOG | c.3334G>C (p.Ala1112Pro) c.3298G>C (p.Ala1100Pro) c.379G>C (p.Ala127Pro) | dbSNP |
11 | g.17594056G= | CA1955217108 | OTOG | c.3334G= (p.Ala1112=) c.3298G= (p.Ala1100=) c.379G= (p.Ala127=) | |
11 | g.17594056G>T | CA379783556 | OTOG | c.3334G>T (p.Ala1112Ser) c.3298G>T (p.Ala1100Ser) c.379G>T (p.Ala127Ser) | |
11 | g.17594057C>A | CA379783558 | OTOG | c.3335C>A (p.Ala1112Glu) c.3299C>A (p.Ala1100Glu) c.380C>A (p.Ala127Glu) | dbSNP |
11 | g.17594057C= | CA1955217109 | OTOG | c.3335C= (p.Ala1112=) c.3299C= (p.Ala1100=) c.380C= (p.Ala127=) | |
11 | g.17594057C>G | CA379783561 | OTOG | c.3335C>G (p.Ala1112Gly) c.3299C>G (p.Ala1100Gly) c.380C>G (p.Ala127Gly) | |
11 | g.17594057C>T | CA5905724 | OTOG | c.3335C>T (p.Ala1112Val) c.3299C>T (p.Ala1100Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594058G>A | CA218460448 | OTOG | c.3336G>A (p.Ala1112=) c.3300G>A (p.Ala1100=) c.381G>A (p.Ala127=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594058G>C | CA218460449 | OTOG | c.3336G>C (p.Ala1112=) c.3300G>C (p.Ala1100=) c.381G>C (p.Ala127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594058G= | CA1955217110 | OTOG | c.3336G= (p.Ala1112=) c.3300G= (p.Ala1100=) c.381G= (p.Ala127=) | |
11 | g.17594058G>T | CA473302494 | OTOG | c.3336G>T (p.Ala1112=) c.3300G>T (p.Ala1100=) c.381G>T (p.Ala127=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594059G>A | CA218460450 | OTOG | c.3337G>A (p.Gly1113Ser) c.3301G>A (p.Gly1101Ser) c.382G>A (p.Gly128Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.17594059G>C | CA379783569 | OTOG | c.3337G>C (p.Gly1113Arg) c.3301G>C (p.Gly1101Arg) c.382G>C (p.Gly128Arg) | |
11 | g.17594059G= | CA1955217111 | OTOG | c.3337G= (p.Gly1113=) c.3301G= (p.Gly1101=) c.382G= (p.Gly128=) | |
11 | g.17594059G>T | CA379783570 | OTOG | c.3337G>T (p.Gly1113Cys) c.3301G>T (p.Gly1101Cys) c.382G>T (p.Gly128Cys) | |
11 | g.17594060G>A | CA379783574 | OTOG | c.3338G>A (p.Gly1113Asp) c.3302G>A (p.Gly1101Asp) c.383G>A (p.Gly128Asp) | |
11 | g.17594060G>C | CA379783576 | OTOG | c.3338G>C (p.Gly1113Ala) c.3302G>C (p.Gly1101Ala) c.383G>C (p.Gly128Ala) | |
11 | g.17594060G>T | CA379783580 | OTOG | c.3338G>T (p.Gly1113Val) c.3302G>T (p.Gly1101Val) c.383G>T (p.Gly128Val) | |
11 | g.17594061C>A | CA473302495 | OTOG | c.3339C>A (p.Gly1113=) c.3303C>A (p.Gly1101=) c.384C>A (p.Gly128=) | |
11 | g.17594061C= | CA1955217112 | OTOG | c.3339C= (p.Gly1113=) c.3303C= (p.Gly1101=) c.384C= (p.Gly128=) | |
11 | g.17594061C>G | CA473302496 | OTOG | c.3339C>G (p.Gly1113=) c.3303C>G (p.Gly1101=) c.384C>G (p.Gly128=) | |
11 | g.17594061C>T | CA218460454 | OTOG | c.3339C>T (p.Gly1113=) c.3303C>T (p.Gly1101=) c.384C>T (p.Gly128=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594062C>A | CA379783598 | OTOG | c.3340C>A (p.Leu1114Ile) c.3304C>A (p.Leu1102Ile) c.385C>A (p.Leu129Ile) | |
11 | g.17594062C= | CA1955217113 | OTOG | c.3340C= (p.Leu1114=) c.3304C= (p.Leu1102=) c.385C= (p.Leu129=) | |
11 | g.17594062C>G | CA379783601 | OTOG | c.3340C>G (p.Leu1114Val) c.3304C>G (p.Leu1102Val) c.385C>G (p.Leu129Val) | |
11 | g.17594062C>T | CA379783586 | OTOG | c.3340C>T (p.Leu1114Phe) c.3304C>T (p.Leu1102Phe) c.385C>T (p.Leu129Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594063T>A | CA379783603 | OTOG | c.3341T>A (p.Leu1114His) c.3305T>A (p.Leu1102His) c.386T>A (p.Leu129His) | |
11 | g.17594063T>C | CA379783604 | OTOG | c.3341T>C (p.Leu1114Pro) c.3305T>C (p.Leu1102Pro) c.386T>C (p.Leu129Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594063T>G | CA379783606 | OTOG | c.3341T>G (p.Leu1114Arg) c.3305T>G (p.Leu1102Arg) c.386T>G (p.Leu129Arg) | |
11 | g.17594063T= | CA1955217114 | OTOG | c.3341T= (p.Leu1114=) c.3305T= (p.Leu1102=) c.386T= (p.Leu129=) | |
11 | g.17594064C>A | CA473302503 | OTOG | c.3342C>A (p.Leu1114=) c.3306C>A (p.Leu1102=) c.387C>A (p.Leu129=) | |
11 | g.17594064C= | CA1955217115 | OTOG | c.3342C= (p.Leu1114=) c.3306C= (p.Leu1102=) c.387C= (p.Leu129=) | |
11 | g.17594064C>G | CA473302504 | OTOG | c.3342C>G (p.Leu1114=) c.3306C>G (p.Leu1102=) c.387C>G (p.Leu129=) | |
11 | g.17594064C>T | CA218460459 | OTOG | c.3342C>T (p.Leu1114=) c.3306C>T (p.Leu1102=) c.387C>T (p.Leu129=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594065T>A | CA379783607 | OTOG | c.3343T>A (p.Cys1115Ser) c.3307T>A (p.Cys1103Ser) c.388T>A (p.Cys130Ser) | |
11 | g.17594065T>C | CA379783610 | OTOG | c.3343T>C (p.Cys1115Arg) c.3307T>C (p.Cys1103Arg) c.388T>C (p.Cys130Arg) | |
11 | g.17594065T>G | CA379783612 | OTOG | c.3343T>G (p.Cys1115Gly) c.3307T>G (p.Cys1103Gly) c.388T>G (p.Cys130Gly) | |
11 | g.17594066G>A | CA379783620 | OTOG | c.3344G>A (p.Cys1115Tyr) c.3308G>A (p.Cys1103Tyr) c.389G>A (p.Cys130Tyr) | |
11 | g.17594066G>C | CA379783613 | OTOG | c.3344G>C (p.Cys1115Ser) c.3308G>C (p.Cys1103Ser) c.389G>C (p.Cys130Ser) | |
11 | g.17594066G= | CA1955217116 | OTOG | c.3344G= (p.Cys1115=) c.3308G= (p.Cys1103=) c.389G= (p.Cys130=) | |
11 | g.17594066G>T | CA379783615 | OTOG | c.3344G>T (p.Cys1115Phe) c.3308G>T (p.Cys1103Phe) c.389G>T (p.Cys130Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594067T>A | CA379783623 | OTOG | c.3345T>A (p.Cys1115Ter) c.3309T>A (p.Cys1103Ter) c.390T>A (p.Cys130Ter) | gnomAD v4 |
11 | g.17594067T>C | CA473302509 | OTOG | c.3345T>C (p.Cys1115=) c.3309T>C (p.Cys1103=) c.390T>C (p.Cys130=) | dbSNP |
11 | g.17594067T>G | CA379783627 | OTOG | c.3345T>G (p.Cys1115Trp) c.3309T>G (p.Cys1103Trp) c.390T>G (p.Cys130Trp) | |
11 | g.17594067T= | CA1955217117 | OTOG | c.3345T= (p.Cys1115=) c.3309T= (p.Cys1103=) c.390T= (p.Cys130=) | |
11 | g.17594068G>A | CA379783630 | OTOG | c.3346G>A (p.Gly1116Arg) c.3310G>A (p.Gly1104Arg) c.391G>A (p.Gly131Arg) | |
11 | g.17594068G>C | CA379783637 | OTOG | c.3346G>C (p.Gly1116Arg) c.3310G>C (p.Gly1104Arg) c.391G>C (p.Gly131Arg) | |
11 | g.17594068G>T | CA379783638 | OTOG | c.3346G>T (p.Gly1116Trp) c.3310G>T (p.Gly1104Trp) c.391G>T (p.Gly131Trp) | |
11 | g.17594069G>A | CA218460461 | OTOG | c.3347G>A (p.Gly1116Glu) c.3311G>A (p.Gly1104Glu) c.392G>A (p.Gly131Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594069G>C | CA379783648 | OTOG | c.3347G>C (p.Gly1116Ala) c.3311G>C (p.Gly1104Ala) c.392G>C (p.Gly131Ala) | |
11 | g.17594069G= | CA1955217118 | OTOG | c.3347G= (p.Gly1116=) c.3311G= (p.Gly1104=) c.392G= (p.Gly131=) | |
11 | g.17594069G>T | CA379783646 | OTOG | c.3347G>T (p.Gly1116Val) c.3311G>T (p.Gly1104Val) c.392G>T (p.Gly131Val) | |
11 | g.17594070G>A | CA218460465 | OTOG | c.3348G>A (p.Gly1116=) c.3312G>A (p.Gly1104=) c.393G>A (p.Gly131=) | ClinVar dbSNP gnomAD v4 |
11 | g.17594070G>C | CA473302516 | OTOG | c.3348G>C (p.Gly1116=) c.3312G>C (p.Gly1104=) c.393G>C (p.Gly131=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594070G= | CA1955217119 | OTOG | c.3348G= (p.Gly1116=) c.3312G= (p.Gly1104=) c.393G= (p.Gly131=) | |
11 | g.17594070G>T | CA473302515 | OTOG | c.3348G>T (p.Gly1116=) c.3312G>T (p.Gly1104=) c.393G>T (p.Gly131=) | |
11 | g.17594071A>C | CA379783650 | OTOG | c.3349A>C (p.Asn1117His) c.3313A>C (p.Asn1105His) c.394A>C (p.Asn132His) | |
11 | g.17594071A>G | CA379783652 | OTOG | c.3349A>G (p.Asn1117Asp) c.3313A>G (p.Asn1105Asp) c.394A>G (p.Asn132Asp) | |
11 | g.17594071A>T | CA379783654 | OTOG | c.3349A>T (p.Asn1117Tyr) c.3313A>T (p.Asn1105Tyr) c.394A>T (p.Asn132Tyr) | |
11 | g.17594072A= | CA1955217120 | OTOG | c.3350A= (p.Asn1117=) c.3314A= (p.Asn1105=) c.395A= (p.Asn132=) | |
11 | g.17594072A>C | CA379783660 | OTOG | c.3350A>C (p.Asn1117Thr) c.3314A>C (p.Asn1105Thr) c.395A>C (p.Asn132Thr) | gnomAD v4 |
11 | g.17594072A>G | CA379783664 | OTOG | c.3350A>G (p.Asn1117Ser) c.3314A>G (p.Asn1105Ser) c.395A>G (p.Asn132Ser) | gnomAD v4 |
11 | g.17594072A>T | CA379783666 | OTOG | c.3350A>T (p.Asn1117Ile) c.3314A>T (p.Asn1105Ile) c.395A>T (p.Asn132Ile) | dbSNP gnomAD v4 |
11 | g.17594073C>A | CA379783669 | OTOG | c.3351C>A (p.Asn1117Lys) c.3315C>A (p.Asn1105Lys) c.396C>A (p.Asn132Lys) | |
11 | g.17594073C= | CA1955217121 | OTOG | c.3351C= (p.Asn1117=) c.3315C= (p.Asn1105=) c.396C= (p.Asn132=) | |
11 | g.17594073C>G | CA379783670 | OTOG | c.3351C>G (p.Asn1117Lys) c.3315C>G (p.Asn1105Lys) c.396C>G (p.Asn132Lys) | |
11 | g.17594073C>T | CA473302519 | OTOG | c.3351C>T (p.Asn1117=) c.3315C>T (p.Asn1105=) c.396C>T (p.Asn132=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594074T>A | CA379783674 | OTOG | c.3352T>A (p.Phe1118Ile) c.3316T>A (p.Phe1106Ile) c.397T>A (p.Phe133Ile) | |
11 | g.17594074T>C | CA379783677 | OTOG | c.3352T>C (p.Phe1118Leu) c.3316T>C (p.Phe1106Leu) c.397T>C (p.Phe133Leu) | |
11 | g.17594074T>G | CA379783682 | OTOG | c.3352T>G (p.Phe1118Val) c.3316T>G (p.Phe1106Val) c.397T>G (p.Phe133Val) | |
11 | g.17594075T>A | CA379783685 | OTOG | c.3353T>A (p.Phe1118Tyr) c.3317T>A (p.Phe1106Tyr) c.398T>A (p.Phe133Tyr) | |
11 | g.17594075T>C | CA379783686 | OTOG | c.3353T>C (p.Phe1118Ser) c.3317T>C (p.Phe1106Ser) c.398T>C (p.Phe133Ser) | |
11 | g.17594075T>G | CA379783683 | OTOG | c.3353T>G (p.Phe1118Cys) c.3317T>G (p.Phe1106Cys) c.398T>G (p.Phe133Cys) | |
11 | g.17594076T>A | CA379783690 | OTOG | c.3354T>A (p.Phe1118Leu) c.3318T>A (p.Phe1106Leu) c.399T>A (p.Phe133Leu) | |
11 | g.17594076T>C | CA473302522 | OTOG | c.3354T>C (p.Phe1118=) c.3318T>C (p.Phe1106=) c.399T>C (p.Phe133=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594076T>G | CA379783688 | OTOG | c.3354T>G (p.Phe1118Leu) c.3318T>G (p.Phe1106Leu) c.399T>G (p.Phe133Leu) | |
11 | g.17594076T= | CA1955217122 | OTOG | c.3354T= (p.Phe1118=) c.3318T= (p.Phe1106=) c.399T= (p.Phe133=) | |
11 | g.17594077G>A | CA379783699 | OTOG | c.3355G>A (p.Asp1119Asn) c.3319G>A (p.Asp1107Asn) c.400G>A (p.Asp134Asn) | |
11 | g.17594077G>C | CA379783694 | OTOG | c.3355G>C (p.Asp1119His) c.3319G>C (p.Asp1107His) c.400G>C (p.Asp134His) | |
11 | g.17594077G>T | CA379783701 | OTOG | c.3355G>T (p.Asp1119Tyr) c.3319G>T (p.Asp1107Tyr) c.400G>T (p.Asp134Tyr) | gnomAD v4 |
11 | g.17594078A>C | CA379783707 | OTOG | c.3356A>C (p.Asp1119Ala) c.3320A>C (p.Asp1107Ala) c.401A>C (p.Asp134Ala) | |
11 | g.17594078A>G | CA379783708 | OTOG | c.3356A>G (p.Asp1119Gly) c.3320A>G (p.Asp1107Gly) c.401A>G (p.Asp134Gly) | gnomAD v4 |
11 | g.17594078A>T | CA379783713 | OTOG | c.3356A>T (p.Asp1119Val) c.3320A>T (p.Asp1107Val) c.401A>T (p.Asp134Val) | |
11 | g.17594079C>A | CA379783716 | OTOG | c.3357C>A (p.Asp1119Glu) c.3321C>A (p.Asp1107Glu) c.402C>A (p.Asp134Glu) | |
11 | g.17594079C= | CA1955217123 | OTOG | c.3357C= (p.Asp1119=) c.3321C= (p.Asp1107=) c.402C= (p.Asp134=) | |
11 | g.17594079C>G | CA379783720 | OTOG | c.3357C>G (p.Asp1119Glu) c.3321C>G (p.Asp1107Glu) c.402C>G (p.Asp134Glu) | |
11 | g.17594079C>T | CA473302529 | OTOG | c.3357C>T (p.Asp1119=) c.3321C>T (p.Asp1107=) c.402C>T (p.Asp134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594080T>A | CA379783728 | OTOG | c.3358T>A (p.Leu1120Ile) c.3322T>A (p.Leu1108Ile) c.403T>A (p.Leu135Ile) | |
11 | g.17594080T>C | CA473302531 | OTOG | c.3358T>C (p.Leu1120=) c.3322T>C (p.Leu1108=) c.403T>C (p.Leu135=) | |
11 | g.17594080T>G | CA379783730 | OTOG | c.3358T>G (p.Leu1120Val) c.3322T>G (p.Leu1108Val) c.403T>G (p.Leu135Val) | |
11 | g.17594081T>A | CA379783732 | OTOG | c.3359T>A (p.Leu1120Ter) c.3323T>A (p.Leu1108Ter) c.404T>A (p.Leu135Ter) | gnomAD v4 |
11 | g.17594081T>C | CA379783734 | OTOG | c.3359T>C (p.Leu1120Ser) c.3323T>C (p.Leu1108Ser) c.404T>C (p.Leu135Ser) | |
11 | g.17594081T>G | CA379783737 | OTOG | c.3359T>G (p.Leu1120Ter) c.3323T>G (p.Leu1108Ter) c.404T>G (p.Leu135Ter) | gnomAD v4 |
11 | g.17594082A>C | CA379783740 | OTOG | c.3360A>C (p.Leu1120Phe) c.3324A>C (p.Leu1108Phe) c.405A>C (p.Leu135Phe) | |
11 | g.17594082A>G | CA473302536 | OTOG | c.3360A>G (p.Leu1120=) c.3324A>G (p.Leu1108=) c.405A>G (p.Leu135=) | |
11 | g.17594082A>T | CA379783741 | OTOG | c.3360A>T (p.Leu1120Phe) c.3324A>T (p.Leu1108Phe) c.405A>T (p.Leu135Phe) | dbSNP |
11 | g.17594083A>C | CA379783750 | OTOG | c.3361A>C (p.Lys1121Gln) c.3325A>C (p.Lys1109Gln) c.406A>C (p.Lys136Gln) | |
11 | g.17594083A>G | CA379783745 | OTOG | c.3361A>G (p.Lys1121Glu) c.3325A>G (p.Lys1109Glu) c.406A>G (p.Lys136Glu) | |
11 | g.17594083A>T | CA379783748 | OTOG | c.3361A>T (p.Lys1121Ter) c.3325A>T (p.Lys1109Ter) c.406A>T (p.Lys136Ter) | |
11 | g.17594084A>C | CA379783755 | OTOG | c.3362A>C (p.Lys1121Thr) c.3326A>C (p.Lys1109Thr) c.407A>C (p.Lys136Thr) | |
11 | g.17594084A>G | CA379783757 | OTOG | c.3362A>G (p.Lys1121Arg) c.3326A>G (p.Lys1109Arg) c.407A>G (p.Lys136Arg) | |
11 | g.17594084A>T | CA379783759 | OTOG | c.3362A>T (p.Lys1121Ile) c.3326A>T (p.Lys1109Ile) c.407A>T (p.Lys136Ile) | |
11 | g.17594085A>C | CA379783760 | OTOG | c.3363A>C (p.Lys1121Asn) c.3327A>C (p.Lys1109Asn) c.408A>C (p.Lys136Asn) | |
11 | g.17594085A>G | CA473302538 | OTOG | c.3363A>G (p.Lys1121=) c.3327A>G (p.Lys1109=) c.408A>G (p.Lys136=) | |
11 | g.17594085A>T | CA379783762 | OTOG | c.3363A>T (p.Lys1121Asn) c.3327A>T (p.Lys1109Asn) c.408A>T (p.Lys136Asn) | |
11 | g.17594086A= | CA1955217124 | OTOG | c.3364A= (p.Thr1122=) c.3328A= (p.Thr1110=) c.409A= (p.Thr137=) | |
11 | g.17594086A>C | CA379783763 | OTOG | c.3364A>C (p.Thr1122Pro) c.3328A>C (p.Thr1110Pro) c.409A>C (p.Thr137Pro) | |
11 | g.17594086A>G | CA379783766 | OTOG | c.3364A>G (p.Thr1122Ala) c.3328A>G (p.Thr1110Ala) c.409A>G (p.Thr137Ala) | gnomAD v4 COSMIC |
11 | g.17594086A>T | CA379783767 | OTOG | c.3364A>T (p.Thr1122Ser) c.3328A>T (p.Thr1110Ser) c.409A>T (p.Thr137Ser) | dbSNP gnomAD v4 |
11 | g.17594087C>A | CA379783769 | OTOG | c.3365C>A (p.Thr1122Asn) c.3329C>A (p.Thr1110Asn) c.410C>A (p.Thr137Asn) | |
11 | g.17594087C>G | CA379783774 | OTOG | c.3365C>G (p.Thr1122Ser) c.3329C>G (p.Thr1110Ser) c.410C>G (p.Thr137Ser) | |
11 | g.17594087C>T | CA379783779 | OTOG | c.3365C>T (p.Thr1122Ile) c.3329C>T (p.Thr1110Ile) c.410C>T (p.Thr137Ile) | |
11 | g.17594088C>A | CA473302542 | OTOG | c.3366C>A (p.Thr1122=) c.3330C>A (p.Thr1110=) c.411C>A (p.Thr137=) | |
11 | g.17594088C= | CA1955217125 | OTOG | c.3366C= (p.Thr1122=) c.3330C= (p.Thr1110=) c.411C= (p.Thr137=) | |
11 | g.17594088C>G | CA473302543 | OTOG | c.3366C>G (p.Thr1122=) c.3330C>G (p.Thr1110=) c.411C>G (p.Thr137=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594088C>T | CA473302544 | OTOG | c.3366C>T (p.Thr1122=) c.3330C>T (p.Thr1110=) c.411C>T (p.Thr137=) | |
11 | g.17594089A= | CA1955217126 | OTOG | c.3367A= (p.Ile1123=) c.3331A= (p.Ile1111=) c.412A= (p.Ile138=) | |
11 | g.17594089A>C | CA379783783 | OTOG | c.3367A>C (p.Ile1123Leu) c.3331A>C (p.Ile1111Leu) c.412A>C (p.Ile138Leu) | |
11 | g.17594089A>G | CA218460471 | OTOG | c.3367A>G (p.Ile1123Val) c.3331A>G (p.Ile1111Val) c.412A>G (p.Ile138Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594089A>T | CA379783782 | OTOG | c.3367A>T (p.Ile1123Phe) c.3331A>T (p.Ile1111Phe) c.412A>T (p.Ile138Phe) | gnomAD v4 |
11 | g.17594090T>A | CA379783787 | OTOG | c.3368T>A (p.Ile1123Asn) c.3332T>A (p.Ile1111Asn) c.413T>A (p.Ile138Asn) | |
11 | g.17594090T>C | CA379783797 | OTOG | c.3368T>C (p.Ile1123Thr) c.3332T>C (p.Ile1111Thr) c.413T>C (p.Ile138Thr) | gnomAD v4 |
11 | g.17594090T>G | CA379783802 | OTOG | c.3368T>G (p.Ile1123Ser) c.3332T>G (p.Ile1111Ser) c.413T>G (p.Ile138Ser) | |
11 | g.17594091C>A | CA473302551 | OTOG | c.3369C>A (p.Ile1123=) c.3333C>A (p.Ile1111=) c.414C>A (p.Ile138=) | |
11 | g.17594091C>G | CA379783806 | OTOG | c.3369C>G (p.Ile1123Met) c.3333C>G (p.Ile1111Met) c.414C>G (p.Ile138Met) | |
11 | g.17594091C>T | CA473302552 | OTOG | c.3369C>T (p.Ile1123=) c.3333C>T (p.Ile1111=) c.414C>T (p.Ile138=) | |
11 | g.17594092A>C | CA379783814 | OTOG | c.3370A>C (p.Asn1124His) c.3334A>C (p.Asn1112His) c.415A>C (p.Asn139His) | |
11 | g.17594092A>G | CA379783816 | OTOG | c.3370A>G (p.Asn1124Asp) c.3334A>G (p.Asn1112Asp) c.415A>G (p.Asn139Asp) | |
11 | g.17594092A>T | CA379783817 | OTOG | c.3370A>T (p.Asn1124Tyr) c.3334A>T (p.Asn1112Tyr) c.415A>T (p.Asn139Tyr) | |
11 | g.17594093A= | CA1955217127 | OTOG | c.3371A= (p.Asn1124=) c.3335A= (p.Asn1112=) c.416A= (p.Asn139=) | |
11 | g.17594093A>C | CA379783820 | OTOG | c.3371A>C (p.Asn1124Thr) c.3335A>C (p.Asn1112Thr) c.416A>C (p.Asn139Thr) | |
11 | g.17594093A>G | CA16619296 | OTOG | c.3371A>G (p.Asn1124Ser) c.3335A>G (p.Asn1112Ser) c.416A>G (p.Asn139Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594093A>T | CA379783823 | OTOG | c.3371A>T (p.Asn1124Ile) c.3335A>T (p.Asn1112Ile) c.416A>T (p.Asn139Ile) | |
11 | g.17594094T>A | CA379783825 | OTOG | c.3372T>A (p.Asn1124Lys) c.3336T>A (p.Asn1112Lys) c.417T>A (p.Asn139Lys) | |
11 | g.17594094T>C | CA473302553 | OTOG | c.3372T>C (p.Asn1124=) c.3336T>C (p.Asn1112=) c.417T>C (p.Asn139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594094T>G | CA379783830 | OTOG | c.3372T>G (p.Asn1124Lys) c.3336T>G (p.Asn1112Lys) c.417T>G (p.Asn139Lys) | gnomAD v4 |
11 | g.17594094T= | CA1955217128 | OTOG | c.3372T= (p.Asn1124=) c.3336T= (p.Asn1112=) c.417T= (p.Asn139=) | |
11 | g.17594095G>A | CA379783842 | OTOG | c.3373G>A (p.Glu1125Lys) c.3337G>A (p.Glu1113Lys) c.418G>A (p.Glu140Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594095G>C | CA379783846 | OTOG | c.3373G>C (p.Glu1125Gln) c.3337G>C (p.Glu1113Gln) c.418G>C (p.Glu140Gln) | |
11 | g.17594095G= | CA1955217129 | OTOG | c.3373G= (p.Glu1125=) c.3337G= (p.Glu1113=) c.418G= (p.Glu140=) | |
11 | g.17594095G>T | CA379783835 | OTOG | c.3373G>T (p.Glu1125Ter) c.3337G>T (p.Glu1113Ter) c.418G>T (p.Glu140Ter) | |
11 | g.17594096A>C | CA379783850 | OTOG | c.3374A>C (p.Glu1125Ala) c.3338A>C (p.Glu1113Ala) c.419A>C (p.Glu140Ala) | |
11 | g.17594096A>G | CA379783851 | OTOG | c.3374A>G (p.Glu1125Gly) c.3338A>G (p.Glu1113Gly) c.419A>G (p.Glu140Gly) | |
11 | g.17594096A>T | CA379783852 | OTOG | c.3374A>T (p.Glu1125Val) c.3338A>T (p.Glu1113Val) c.419A>T (p.Glu140Val) | |
11 | g.17594097G>A | CA473302554 | OTOG | c.3375G>A (p.Glu1125=) c.3339G>A (p.Glu1113=) c.420G>A (p.Glu140=) | |
11 | g.17594097G>C | CA379783853 | OTOG | c.3375G>C (p.Glu1125Asp) c.3339G>C (p.Glu1113Asp) c.420G>C (p.Glu140Asp) | gnomAD v4 |
11 | g.17594097G>T | CA379783855 | OTOG | c.3375G>T (p.Glu1125Asp) c.3339G>T (p.Glu1113Asp) c.420G>T (p.Glu140Asp) | |
11 | g.17594098A= | CA1955217130 | OTOG | c.3376A= (p.Met1126=) c.3340A= (p.Met1114=) c.421A= (p.Met141=) | |
11 | g.17594098A>C | CA379783862 | OTOG | c.3376A>C (p.Met1126Leu) c.3340A>C (p.Met1114Leu) c.421A>C (p.Met141Leu) | dbSNP |
11 | g.17594098A>G | CA379783858 | OTOG | c.3376A>G (p.Met1126Val) c.3340A>G (p.Met1114Val) c.421A>G (p.Met141Val) | |
11 | g.17594098A>T | CA379783861 | OTOG | c.3376A>T (p.Met1126Leu) c.3340A>T (p.Met1114Leu) c.421A>T (p.Met141Leu) | |
11 | g.17594099T>A | CA379783863 | OTOG | c.3377T>A (p.Met1126Lys) c.3341T>A (p.Met1114Lys) c.422T>A (p.Met141Lys) | |
11 | g.17594099T>C | CA379783864 | OTOG | c.3377T>C (p.Met1126Thr) c.3341T>C (p.Met1114Thr) c.422T>C (p.Met141Thr) | |
11 | g.17594099T>G | CA379783865 | OTOG | c.3377T>G (p.Met1126Arg) c.3341T>G (p.Met1114Arg) c.422T>G (p.Met141Arg) | |
11 | g.17594099T= | CA1955217132 | OTOG | c.3377T= (p.Met1126=) c.3341T= (p.Met1114=) c.422T= (p.Met141=) | |
11 | g.17594099_17594108delinsTGAGGACCCC | CA1955217131 | OTOG | c.3377_3386delinsTGAGGACCCC (p.Met1126=) c.3341_3350delinsTGAGGACCCC (p.Met1114=) c.422_431delinsTGAGGACCCC (p.Met141=) | |
11 | g.17594100G>A | CA379783868 | OTOG | c.3378G>A (p.Met1126Ile) c.3342G>A (p.Met1114Ile) c.423G>A (p.Met141Ile) | |
11 | g.17594100G>C | CA379783871 | OTOG | c.3378G>C (p.Met1126Ile) c.3342G>C (p.Met1114Ile) c.423G>C (p.Met141Ile) | |
11 | g.17594100G>T | CA379783879 | OTOG | c.3378G>T (p.Met1126Ile) c.3342G>T (p.Met1114Ile) c.423G>T (p.Met141Ile) | |
11 | g.17594101_17594109del | CA674245776 | OTOG | c.3379_3387del (p.Arg1127_Pro1129del) c.3343_3351del (p.Arg1115_Pro1117del) c.424_432del (p.Arg142_Pro144del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594103_17594112dup | CA218460480 | OTOG | c.3381_3390dup (p.Asn1131AspfsTer9) c.3345_3354dup (p.Asn1119AspfsTer9) c.426_435dup (p.Asn146AspfsTer9) | dbSNP |
11 | g.17594101A>C | CA473302555 | OTOG | c.3379A>C (p.Arg1127=) c.3343A>C (p.Arg1115=) c.424A>C (p.Arg142=) | |
11 | g.17594101A>G | CA379783883 | OTOG | c.3379A>G (p.Arg1127Gly) c.3343A>G (p.Arg1115Gly) c.424A>G (p.Arg142Gly) | |
11 | g.17594101A>T | CA379783882 | OTOG | c.3379A>T (p.Arg1127Trp) c.3343A>T (p.Arg1115Trp) c.424A>T (p.Arg142Trp) | |
11 | g.17594102G>A | CA379783884 | OTOG | c.3380G>A (p.Arg1127Lys) c.3344G>A (p.Arg1115Lys) c.425G>A (p.Arg142Lys) | dbSNP |
11 | g.17594102G>C | CA379783886 | OTOG | c.3380G>C (p.Arg1127Thr) c.3344G>C (p.Arg1115Thr) c.425G>C (p.Arg142Thr) | |
11 | g.17594102G= | CA1955217133 | OTOG | c.3380G= (p.Arg1127=) c.3344G= (p.Arg1115=) c.425G= (p.Arg142=) | |
11 | g.17594102G>T | CA379783885 | OTOG | c.3380G>T (p.Arg1127Met) c.3344G>T (p.Arg1115Met) c.425G>T (p.Arg142Met) | gnomAD v4 |
11 | g.17594103G>A | CA473302556 | OTOG | c.3381G>A (p.Arg1127=) c.3345G>A (p.Arg1115=) c.426G>A (p.Arg142=) | |
11 | g.17594103G>C | CA379783888 | OTOG | c.3381G>C (p.Arg1127Ser) c.3345G>C (p.Arg1115Ser) c.426G>C (p.Arg142Ser) | |
11 | g.17594103G>T | CA379783889 | OTOG | c.3381G>T (p.Arg1127Ser) c.3345G>T (p.Arg1115Ser) c.426G>T (p.Arg142Ser) | |
11 | g.17594104A>C | CA379783890 | OTOG | c.3382A>C (p.Thr1128Pro) c.3346A>C (p.Thr1116Pro) c.427A>C (p.Thr143Pro) | |
11 | g.17594104A>G | CA379783891 | OTOG | c.3382A>G (p.Thr1128Ala) c.3346A>G (p.Thr1116Ala) c.427A>G (p.Thr143Ala) | gnomAD v4 |
11 | g.17594104A>T | CA379783892 | OTOG | c.3382A>T (p.Thr1128Ser) c.3346A>T (p.Thr1116Ser) c.427A>T (p.Thr143Ser) | |
11 | g.17594105C>A | CA379783894 | OTOG | c.3383C>A (p.Thr1128Asn) c.3347C>A (p.Thr1116Asn) c.428C>A (p.Thr143Asn) | dbSNP |
11 | g.17594105C= | CA1955217134 | OTOG | c.3383C= (p.Thr1128=) c.3347C= (p.Thr1116=) c.428C= (p.Thr143=) | |
11 | g.17594105C>G | CA379783895 | OTOG | c.3383C>G (p.Thr1128Ser) c.3347C>G (p.Thr1116Ser) c.428C>G (p.Thr143Ser) | |
11 | g.17594105C>T | CA218460482 | OTOG | c.3383C>T (p.Thr1128Ile) c.3347C>T (p.Thr1116Ile) c.428C>T (p.Thr143Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594106C>A | CA473302560 | OTOG | c.3384C>A (p.Thr1128=) c.3348C>A (p.Thr1116=) c.429C>A (p.Thr143=) | dbSNP |
11 | g.17594106C= | CA1955217135 | OTOG | c.3384C= (p.Thr1128=) c.3348C= (p.Thr1116=) c.429C= (p.Thr143=) | |
11 | g.17594106C>G | CA473302561 | OTOG | c.3384C>G (p.Thr1128=) c.3348C>G (p.Thr1116=) c.429C>G (p.Thr143=) | |
11 | g.17594106C>T | CA473302562 | OTOG | c.3384C>T (p.Thr1128=) c.3348C>T (p.Thr1116=) c.429C>T (p.Thr143=) | |
11 | g.17594107C>A | CA379783899 | OTOG | c.3385C>A (p.Pro1129Thr) c.3349C>A (p.Pro1117Thr) c.430C>A (p.Pro144Thr) | |
11 | g.17594107C>G | CA379783901 | OTOG | c.3385C>G (p.Pro1129Ala) c.3349C>G (p.Pro1117Ala) c.430C>G (p.Pro144Ala) | |
11 | g.17594107C>T | CA379783905 | OTOG | c.3385C>T (p.Pro1129Ser) c.3349C>T (p.Pro1117Ser) c.430C>T (p.Pro144Ser) | gnomAD v4 |
11 | g.17594108C>A | CA379783909 | OTOG | c.3386C>A (p.Pro1129Gln) c.3350C>A (p.Pro1117Gln) c.431C>A (p.Pro144Gln) | |
11 | g.17594108C= | CA1955217136 | OTOG | c.3386C= (p.Pro1129=) c.3350C= (p.Pro1117=) c.431C= (p.Pro144=) | |
11 | g.17594108C>G | CA379783908 | OTOG | c.3386C>G (p.Pro1129Arg) c.3350C>G (p.Pro1117Arg) c.431C>G (p.Pro144Arg) | gnomAD v4 |
11 | g.17594108C>T | CA5905725 | OTOG | c.3386C>T (p.Pro1129Leu) c.3350C>T (p.Pro1117Leu) c.431C>T (p.Pro144Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594109G>A | CA5905726 | OTOG | c.3387G>A (p.Pro1129=) c.3351G>A (p.Pro1117=) c.432G>A (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594109G>C | CA473302570 | OTOG | c.3387G>C (p.Pro1129=) c.3351G>C (p.Pro1117=) c.432G>C (p.Pro144=) | |
11 | g.17594109G= | CA1955217137 | OTOG | c.3387G= (p.Pro1129=) c.3351G= (p.Pro1117=) c.432G= (p.Pro144=) | |
11 | g.17594109G>T | CA473302569 | OTOG | c.3387G>T (p.Pro1129=) c.3351G>T (p.Pro1117=) c.432G>T (p.Pro144=) | |
11 | g.17594110G>A | CA379783914 | OTOG | c.3388G>A (p.Glu1130Lys) c.3352G>A (p.Glu1118Lys) c.433G>A (p.Glu145Lys) | |
11 | g.17594110G>C | CA379783916 | OTOG | c.3388G>C (p.Glu1130Gln) c.3352G>C (p.Glu1118Gln) c.433G>C (p.Glu145Gln) | |
11 | g.17594110G>T | CA379783919 | OTOG | c.3388G>T (p.Glu1130Ter) c.3352G>T (p.Glu1118Ter) c.433G>T (p.Glu145Ter) | |
11 | g.17594111A>C | CA379783922 | OTOG | c.3389A>C (p.Glu1130Ala) c.3353A>C (p.Glu1118Ala) c.434A>C (p.Glu145Ala) | |
11 | g.17594111A>G | CA379783926 | OTOG | c.3389A>G (p.Glu1130Gly) c.3353A>G (p.Glu1118Gly) c.434A>G (p.Glu145Gly) | |
11 | g.17594111A>T | CA379783929 | OTOG | c.3389A>T (p.Glu1130Val) c.3353A>T (p.Glu1118Val) c.434A>T (p.Glu145Val) | |
11 | g.17594112G>A | CA473302574 | OTOG | c.3390G>A (p.Glu1130=) c.3354G>A (p.Glu1118=) c.435G>A (p.Glu145=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594112G>C | CA379783930 | OTOG | c.3390G>C (p.Glu1130Asp) c.3354G>C (p.Glu1118Asp) c.435G>C (p.Glu145Asp) | |
11 | g.17594112G= | CA1955217138 | OTOG | c.3390G= (p.Glu1130=) c.3354G= (p.Glu1118=) c.435G= (p.Glu145=) | |
11 | g.17594112G>T | CA379783932 | OTOG | c.3390G>T (p.Glu1130Asp) c.3354G>T (p.Glu1118Asp) c.435G>T (p.Glu145Asp) | |
11 | g.17594113A>C | CA379783937 | OTOG | c.3391A>C (p.Asn1131His) c.3355A>C (p.Asn1119His) c.436A>C (p.Asn146His) | |
11 | g.17594113A>G | CA379783939 | OTOG | c.3391A>G (p.Asn1131Asp) c.3355A>G (p.Asn1119Asp) c.436A>G (p.Asn146Asp) | |
11 | g.17594113A>T | CA379783941 | OTOG | c.3391A>T (p.Asn1131Tyr) c.3355A>T (p.Asn1119Tyr) c.436A>T (p.Asn146Tyr) | |
11 | g.17594114A>C | CA379783948 | OTOG | c.3392A>C (p.Asn1131Thr) c.3356A>C (p.Asn1119Thr) c.437A>C (p.Asn146Thr) | |
11 | g.17594114A>G | CA379783946 | OTOG | c.3392A>G (p.Asn1131Ser) c.3356A>G (p.Asn1119Ser) c.437A>G (p.Asn146Ser) | |
11 | g.17594114A>T | CA379783944 | OTOG | c.3392A>T (p.Asn1131Ile) c.3356A>T (p.Asn1119Ile) c.437A>T (p.Asn146Ile) | |
11 | g.17594115C>A | CA379783954 | OTOG | c.3393C>A (p.Asn1131Lys) c.3357C>A (p.Asn1119Lys) c.438C>A (p.Asn146Lys) | |
11 | g.17594115C= | CA1955217139 | OTOG | c.3393C= (p.Asn1131=) c.3357C= (p.Asn1119=) c.438C= (p.Asn146=) | |
11 | g.17594115C>G | CA379783952 | OTOG | c.3393C>G (p.Asn1131Lys) c.3357C>G (p.Asn1119Lys) c.438C>G (p.Asn146Lys) | |
11 | g.17594115C>T | CA473302577 | OTOG | c.3393C>T (p.Asn1131=) c.3357C>T (p.Asn1119=) c.438C>T (p.Asn146=) | dbSNP |
11 | g.17594116C>A | CA379783956 | OTOG | c.3394C>A (p.Leu1132Ile) c.3358C>A (p.Leu1120Ile) c.439C>A (p.Leu147Ile) | |
11 | g.17594116C>G | CA379783958 | OTOG | c.3394C>G (p.Leu1132Val) c.3358C>G (p.Leu1120Val) c.439C>G (p.Leu147Val) | gnomAD v4 |
11 | g.17594116C>T | CA473302578 | OTOG | c.3394C>T (p.Leu1132=) c.3358C>T (p.Leu1120=) c.439C>T (p.Leu147=) | |
11 | g.17594117T>A | CA379783961 | OTOG | c.3395T>A (p.Leu1132Gln) c.3359T>A (p.Leu1120Gln) c.440T>A (p.Leu147Gln) | |
11 | g.17594117T>C | CA5905727 | OTOG | c.3395T>C (p.Leu1132Pro) c.3359T>C (p.Leu1120Pro) c.440T>C (p.Leu147Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594117T>G | CA379783966 | OTOG | c.3395T>G (p.Leu1132Arg) c.3359T>G (p.Leu1120Arg) c.440T>G (p.Leu147Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594117T= | CA1955217140 | OTOG | c.3395T= (p.Leu1132=) c.3359T= (p.Leu1120=) c.440T= (p.Leu147=) | |
11 | g.17594118A= | CA1955217141 | OTOG | c.3396A= (p.Leu1132=) c.3360A= (p.Leu1120=) c.441A= (p.Leu147=) | |
11 | g.17594118A>C | CA473302584 | OTOG | c.3396A>C (p.Leu1132=) c.3360A>C (p.Leu1120=) c.441A>C (p.Leu147=) | gnomAD v4 |
11 | g.17594118A>G | CA5905728 | OTOG | c.3396A>G (p.Leu1132=) c.3360A>G (p.Leu1120=) c.441A>G (p.Leu147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594118A>T | CA473302582 | OTOG | c.3396A>T (p.Leu1132=) c.3360A>T (p.Leu1120=) c.441A>T (p.Leu147=) | |
11 | g.17594119G>A | CA379783970 | OTOG | c.3397G>A (p.Glu1133Lys) c.3361G>A (p.Glu1121Lys) c.442G>A (p.Glu148Lys) | ClinVar dbSNP |
11 | g.17594119G>C | CA379783972 | OTOG | c.3397G>C (p.Glu1133Gln) c.3361G>C (p.Glu1121Gln) c.442G>C (p.Glu148Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17594119G= | CA1955217142 | OTOG | c.3397G= (p.Glu1133=) c.3361G= (p.Glu1121=) c.442G= (p.Glu148=) | |
11 | g.17594119G>T | CA379783973 | OTOG | c.3397G>T (p.Glu1133Ter) c.3361G>T (p.Glu1121Ter) c.442G>T (p.Glu148Ter) | |
11 | g.17594120A>C | CA379783976 | OTOG | c.3398A>C (p.Glu1133Ala) c.3362A>C (p.Glu1121Ala) c.443A>C (p.Glu148Ala) | |
11 | g.17594120A>G | CA379783978 | OTOG | c.3398A>G (p.Glu1133Gly) c.3362A>G (p.Glu1121Gly) c.443A>G (p.Glu148Gly) | |
11 | g.17594120A>T | CA379783981 | OTOG | c.3398A>T (p.Glu1133Val) c.3362A>T (p.Glu1121Val) c.443A>T (p.Glu148Val) | |
11 | g.17594121G>A | CA473302585 | OTOG | c.3399G>A (p.Glu1133=) c.3363G>A (p.Glu1121=) c.444G>A (p.Glu148=) | |
11 | g.17594121G>C | CA379783986 | OTOG | c.3399G>C (p.Glu1133Asp) c.3363G>C (p.Glu1121Asp) c.444G>C (p.Glu148Asp) | |
11 | g.17594121G= | CA1955217143 | OTOG | c.3399G= (p.Glu1133=) c.3363G= (p.Glu1121=) c.444G= (p.Glu148=) | |
11 | g.17594121G>T | CA379783984 | OTOG | c.3399G>T (p.Glu1133Asp) c.3363G>T (p.Glu1121Asp) c.444G>T (p.Glu148Asp) | dbSNP |
11 | g.17594122C>A | CA379783987 | OTOG | c.3400C>A (p.Leu1134Ile) c.3364C>A (p.Leu1122Ile) c.445C>A (p.Leu149Ile) | gnomAD v4 |
11 | g.17594122C>G | CA379783990 | OTOG | c.3400C>G (p.Leu1134Val) c.3364C>G (p.Leu1122Val) c.445C>G (p.Leu149Val) | |
11 | g.17594122C>T | CA473302586 | OTOG | c.3400C>T (p.Leu1134=) c.3364C>T (p.Leu1122=) c.445C>T (p.Leu149=) | |
11 | g.17594123T>A | CA379783991 | OTOG | c.3401T>A (p.Leu1134Gln) c.3365T>A (p.Leu1122Gln) c.446T>A (p.Leu149Gln) | |
11 | g.17594123T>C | CA379783992 | OTOG | c.3401T>C (p.Leu1134Pro) c.3365T>C (p.Leu1122Pro) c.446T>C (p.Leu149Pro) | |
11 | g.17594123T>G | CA379783993 | OTOG | c.3401T>G (p.Leu1134Arg) c.3365T>G (p.Leu1122Arg) c.446T>G (p.Leu149Arg) | |
11 | g.17594124A= | CA1955217144 | OTOG | c.3402A= (p.Leu1134=) c.3366A= (p.Leu1122=) c.447A= (p.Leu149=) | |
11 | g.17594124A>C | CA473302590 | OTOG | c.3402A>C (p.Leu1134=) c.3366A>C (p.Leu1122=) c.447A>C (p.Leu149=) | |
11 | g.17594124A>G | CA473302591 | OTOG | c.3402A>G (p.Leu1134=) c.3366A>G (p.Leu1122=) c.447A>G (p.Leu149=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594124A>T | CA473302592 | OTOG | c.3402A>T (p.Leu1134=) c.3366A>T (p.Leu1122=) c.447A>T (p.Leu149=) | |
11 | g.17594125A>C | CA379783994 | OTOG | c.3403A>C (p.Thr1135Pro) c.3367A>C (p.Thr1123Pro) c.448A>C (p.Thr150Pro) | |
11 | g.17594125A>G | CA379783995 | OTOG | c.3403A>G (p.Thr1135Ala) c.3367A>G (p.Thr1123Ala) c.448A>G (p.Thr150Ala) | |
11 | g.17594125A>T | CA379783997 | OTOG | c.3403A>T (p.Thr1135Ser) c.3367A>T (p.Thr1123Ser) c.448A>T (p.Thr150Ser) | |
11 | g.17594126C>A | CA379783999 | OTOG | c.3404C>A (p.Thr1135Asn) c.3368C>A (p.Thr1123Asn) c.449C>A (p.Thr150Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594126C= | CA1955217145 | OTOG | c.3404C= (p.Thr1135=) c.3368C= (p.Thr1123=) c.449C= (p.Thr150=) | |
11 | g.17594126C>G | CA379784000 | OTOG | c.3404C>G (p.Thr1135Ser) c.3368C>G (p.Thr1123Ser) c.449C>G (p.Thr150Ser) | |
11 | g.17594126C>T | CA379784001 | OTOG | c.3404C>T (p.Thr1135Ile) c.3368C>T (p.Thr1123Ile) c.449C>T (p.Thr150Ile) | gnomAD v4 |
11 | g.17594127T>A | CA473302596 | OTOG | c.3405T>A (p.Thr1135=) c.3369T>A (p.Thr1123=) c.450T>A (p.Thr150=) | gnomAD v4 |
11 | g.17594127T>C | CA473302597 | OTOG | c.3405T>C (p.Thr1135=) c.3369T>C (p.Thr1123=) c.450T>C (p.Thr150=) | |
11 | g.17594127T>G | CA473302598 | OTOG | c.3405T>G (p.Thr1135=) c.3369T>G (p.Thr1123=) c.450T>G (p.Thr150=) | |
11 | g.17594128A>C | CA379784003 | OTOG | c.3406A>C (p.Asn1136His) c.3370A>C (p.Asn1124His) c.451A>C (p.Asn151His) | |
11 | g.17594128A>G | CA379784006 | OTOG | c.3406A>G (p.Asn1136Asp) c.3370A>G (p.Asn1124Asp) c.451A>G (p.Asn151Asp) | |
11 | g.17594128A>T | CA379784007 | OTOG | c.3406A>T (p.Asn1136Tyr) c.3370A>T (p.Asn1124Tyr) c.451A>T (p.Asn151Tyr) | |
11 | g.17594129A>C | CA379784013 | OTOG | c.3407A>C (p.Asn1136Thr) c.3371A>C (p.Asn1124Thr) c.452A>C (p.Asn151Thr) | |
11 | g.17594129A>G | CA379784015 | OTOG | c.3407A>G (p.Asn1136Ser) c.3371A>G (p.Asn1124Ser) c.452A>G (p.Asn151Ser) | gnomAD v4 |
11 | g.17594129A>T | CA379784010 | OTOG | c.3407A>T (p.Asn1136Ile) c.3371A>T (p.Asn1124Ile) c.452A>T (p.Asn151Ile) | |
11 | g.17594129_17594130delinsAC | CA1955217146 | OTOG | c.3407_3408delinsAC (p.Asn1136=) c.3371_3372delinsAC (p.Asn1124=) c.452_453delinsAC (p.Asn151=) | |
11 | g.17594130C>A | CA218460490 | OTOG | c.3408C>A (p.Asn1136Lys) c.3372C>A (p.Asn1124Lys) c.453C>A (p.Asn151Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594130C= | CA1955217147 | OTOG | c.3408C= (p.Asn1136=) c.3372C= (p.Asn1124=) c.453C= (p.Asn151=) | |
11 | g.17594130C>G | CA379784020 | OTOG | c.3408C>G (p.Asn1136Lys) c.3372C>G (p.Asn1124Lys) c.453C>G (p.Asn151Lys) | gnomAD v4 |
11 | g.17594130C>T | CA473302604 | OTOG | c.3408C>T (p.Asn1136=) c.3372C>T (p.Asn1124=) c.453C>T (p.Asn151=) | gnomAD v4 |
11 | g.17594134del | CA597670081 | OTOG | c.3412del (p.Gln1138ArgfsTer24) c.3376del (p.Gln1126ArgfsTer24) c.457del (p.Gln153ArgfsTer24) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594131C>A | CA379784026 | OTOG | c.3409C>A (p.Pro1137Thr) c.3373C>A (p.Pro1125Thr) c.454C>A (p.Pro152Thr) | |
11 | g.17594131C= | CA1955217148 | OTOG | c.3409C= (p.Pro1137=) c.3373C= (p.Pro1125=) c.454C= (p.Pro152=) | |
11 | g.17594131C>G | CA379784031 | OTOG | c.3409C>G (p.Pro1137Ala) c.3373C>G (p.Pro1125Ala) c.454C>G (p.Pro152Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594131C>T | CA379784029 | OTOG | c.3409C>T (p.Pro1137Ser) c.3373C>T (p.Pro1125Ser) c.454C>T (p.Pro152Ser) | |
11 | g.17594132C>A | CA379784034 | OTOG | c.3410C>A (p.Pro1137His) c.3374C>A (p.Pro1125His) c.455C>A (p.Pro152His) | dbSNP gnomAD v2 |
11 | g.17594132C= | CA1955217149 | OTOG | c.3410C= (p.Pro1137=) c.3374C= (p.Pro1125=) c.455C= (p.Pro152=) | |
11 | g.17594132C>G | CA379784037 | OTOG | c.3410C>G (p.Pro1137Arg) c.3374C>G (p.Pro1125Arg) c.455C>G (p.Pro152Arg) | |
11 | g.17594132C>T | CA379784039 | OTOG | c.3410C>T (p.Pro1137Leu) c.3374C>T (p.Pro1125Leu) c.455C>T (p.Pro152Leu) | |
11 | g.17594133C>A | CA473302608 | OTOG | c.3411C>A (p.Pro1137=) c.3375C>A (p.Pro1125=) c.456C>A (p.Pro152=) | |
11 | g.17594133C>G | CA473302609 | OTOG | c.3411C>G (p.Pro1137=) c.3375C>G (p.Pro1125=) c.456C>G (p.Pro152=) | |
11 | g.17594133C>T | CA473302610 | OTOG | c.3411C>T (p.Pro1137=) c.3375C>T (p.Pro1125=) c.456C>T (p.Pro152=) | |
11 | g.17594134C>A | CA379784042 | OTOG | c.3412C>A (p.Gln1138Lys) c.3376C>A (p.Gln1126Lys) c.457C>A (p.Gln153Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594134C= | CA1955217150 | OTOG | c.3412C= (p.Gln1138=) c.3376C= (p.Gln1126=) c.457C= (p.Gln153=) | |
11 | g.17594134C>G | CA379784045 | OTOG | c.3412C>G (p.Gln1138Glu) c.3376C>G (p.Gln1126Glu) c.457C>G (p.Gln153Glu) | |
11 | g.17594134C>T | CA379784048 | OTOG | c.3412C>T (p.Gln1138Ter) c.3376C>T (p.Gln1126Ter) c.457C>T (p.Gln153Ter) | |
11 | g.17594135A>C | CA379784051 | OTOG | c.3413A>C (p.Gln1138Pro) c.3377A>C (p.Gln1126Pro) c.458A>C (p.Gln153Pro) | |
11 | g.17594135A>G | CA379784054 | OTOG | c.3413A>G (p.Gln1138Arg) c.3377A>G (p.Gln1126Arg) c.458A>G (p.Gln153Arg) | |
11 | g.17594135A>T | CA379784055 | OTOG | c.3413A>T (p.Gln1138Leu) c.3377A>T (p.Gln1126Leu) c.458A>T (p.Gln153Leu) | |
11 | g.17594136G>A | CA473302614 | OTOG | c.3414G>A (p.Gln1138=) c.3378G>A (p.Gln1126=) c.459G>A (p.Gln153=) | dbSNP gnomAD v4 |
11 | g.17594136G>C | CA379784058 | OTOG | c.3414G>C (p.Gln1138His) c.3378G>C (p.Gln1126His) c.459G>C (p.Gln153His) | |
11 | g.17594136G= | CA1955217151 | OTOG | c.3414G= (p.Gln1138=) c.3378G= (p.Gln1126=) c.459G= (p.Gln153=) | |
11 | g.17594136G>T | CA379784060 | OTOG | c.3414G>T (p.Gln1138His) c.3378G>T (p.Gln1126His) c.459G>T (p.Gln153His) | |
11 | g.17594137G>A | CA379784072 | OTOG | c.3415G>A (p.Glu1139Lys) c.3379G>A (p.Glu1127Lys) c.460G>A (p.Glu154Lys) | gnomAD v4 COSMIC |
11 | g.17594137G>C | CA379784064 | OTOG | c.3415G>C (p.Glu1139Gln) c.3379G>C (p.Glu1127Gln) c.460G>C (p.Glu154Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594137G= | CA1955217152 | OTOG | c.3415G= (p.Glu1139=) c.3379G= (p.Glu1127=) c.460G= (p.Glu154=) | |
11 | g.17594137G>T | CA379784067 | OTOG | c.3415G>T (p.Glu1139Ter) c.3379G>T (p.Glu1127Ter) c.460G>T (p.Glu154Ter) | gnomAD v4 |
11 | g.17594138A>C | CA379784076 | OTOG | c.3416A>C (p.Glu1139Ala) c.3380A>C (p.Glu1127Ala) c.461A>C (p.Glu154Ala) | |
11 | g.17594138A>G | CA379784080 | OTOG | c.3416A>G (p.Glu1139Gly) c.3380A>G (p.Glu1127Gly) c.461A>G (p.Glu154Gly) | |
11 | g.17594138A>T | CA379784082 | OTOG | c.3416A>T (p.Glu1139Val) c.3380A>T (p.Glu1127Val) c.461A>T (p.Glu154Val) | |
11 | g.17594139G>A | CA473302619 | OTOG | c.3417G>A (p.Glu1139=) c.3381G>A (p.Glu1127=) c.462G>A (p.Glu154=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594139G>C | CA379784085 | OTOG | c.3417G>C (p.Glu1139Asp) c.3381G>C (p.Glu1127Asp) c.462G>C (p.Glu154Asp) | |
11 | g.17594139G= | CA1955217153 | OTOG | c.3417G= (p.Glu1139=) c.3381G= (p.Glu1127=) c.462G= (p.Glu154=) | |
11 | g.17594139G>T | CA379784089 | OTOG | c.3417G>T (p.Glu1139Asp) c.3381G>T (p.Glu1127Asp) c.462G>T (p.Glu154Asp) | |
11 | g.17594140T>A | CA379784093 | OTOG | c.3418T>A (p.Phe1140Ile) c.3382T>A (p.Phe1128Ile) c.463T>A (p.Phe155Ile) | |
11 | g.17594140T>C | CA379784095 | OTOG | c.3418T>C (p.Phe1140Leu) c.3382T>C (p.Phe1128Leu) c.463T>C (p.Phe155Leu) | gnomAD v4 |
11 | g.17594140T>G | CA379784097 | OTOG | c.3418T>G (p.Phe1140Val) c.3382T>G (p.Phe1128Val) c.463T>G (p.Phe155Val) | |
11 | g.17594141T>A | CA379784103 | OTOG | c.3419T>A (p.Phe1140Tyr) c.3383T>A (p.Phe1128Tyr) c.464T>A (p.Phe155Tyr) | |
11 | g.17594141T>C | CA379784105 | OTOG | c.3419T>C (p.Phe1140Ser) c.3383T>C (p.Phe1128Ser) c.464T>C (p.Phe155Ser) | gnomAD v4 |
11 | g.17594141T>G | CA379784107 | OTOG | c.3419T>G (p.Phe1140Cys) c.3383T>G (p.Phe1128Cys) c.464T>G (p.Phe155Cys) | dbSNP gnomAD v4 |
11 | g.17594141T= | CA1955217154 | OTOG | c.3419T= (p.Phe1140=) c.3383T= (p.Phe1128=) c.464T= (p.Phe155=) | |
11 | g.17594142T>A | CA379784111 | OTOG | c.3420T>A (p.Phe1140Leu) c.3384T>A (p.Phe1128Leu) c.465T>A (p.Phe155Leu) | gnomAD v4 |
11 | g.17594142T>C | CA473302621 | OTOG | c.3420T>C (p.Phe1140=) c.3384T>C (p.Phe1128=) c.465T>C (p.Phe155=) | |
11 | g.17594142T>G | CA379784109 | OTOG | c.3420T>G (p.Phe1140Leu) c.3384T>G (p.Phe1128Leu) c.465T>G (p.Phe155Leu) | |
11 | g.17594142_17594143delinsTG | CA1955217155 | OTOG | c.3420_3421delinsTG (p.Phe1140=) c.3384_3385delinsTG (p.Phe1128=) c.465_466delinsTG (p.Phe155=) | |
11 | g.17594143G>A | CA379784114 | OTOG | c.3421G>A (p.Gly1141Ser) c.3385G>A (p.Gly1129Ser) c.466G>A (p.Gly156Ser) | dbSNP gnomAD v2 |
11 | g.17594143G>C | CA379784117 | OTOG | c.3421G>C (p.Gly1141Arg) c.3385G>C (p.Gly1129Arg) c.466G>C (p.Gly156Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17594143G= | CA1955217156 | OTOG | c.3421G= (p.Gly1141=) c.3385G= (p.Gly1129=) c.466G= (p.Gly156=) | |
11 | g.17594143G>T | CA379784121 | OTOG | c.3421G>T (p.Gly1141Cys) c.3385G>T (p.Gly1129Cys) c.466G>T (p.Gly156Cys) | |
11 | g.17594144del | CA218460494 | OTOG | c.3422del (p.Gly1141AlafsTer21) c.3386del (p.Gly1129AlafsTer21) c.467del (p.Gly156AlafsTer21) | dbSNP |
11 | g.17594144G>A | CA379784124 | OTOG | c.3422G>A (p.Gly1141Asp) c.3386G>A (p.Gly1129Asp) c.467G>A (p.Gly156Asp) | |
11 | g.17594144G>C | CA379784125 | OTOG | c.3422G>C (p.Gly1141Ala) c.3386G>C (p.Gly1129Ala) c.467G>C (p.Gly156Ala) | |
11 | g.17594144G>T | CA379784127 | OTOG | c.3422G>T (p.Gly1141Val) c.3386G>T (p.Gly1129Val) c.467G>T (p.Gly156Val) | |
11 | g.17594145C>A | CA473302626 | OTOG | c.3423C>A (p.Gly1141=) c.3387C>A (p.Gly1129=) c.468C>A (p.Gly156=) | gnomAD v4 COSMIC |
11 | g.17594145C>G | CA473302628 | OTOG | c.3423C>G (p.Gly1141=) c.3387C>G (p.Gly1129=) c.468C>G (p.Gly156=) | |
11 | g.17594145C>T | CA473302627 | OTOG | c.3423C>T (p.Gly1141=) c.3387C>T (p.Gly1129=) c.468C>T (p.Gly156=) | |
11 | g.17594146A>C | CA379784136 | OTOG | c.3424A>C (p.Ser1142Arg) c.3388A>C (p.Ser1130Arg) c.469A>C (p.Ser157Arg) | |
11 | g.17594146A>G | CA379784131 | OTOG | c.3424A>G (p.Ser1142Gly) c.3388A>G (p.Ser1130Gly) c.469A>G (p.Ser157Gly) | |
11 | g.17594146A>T | CA379784133 | OTOG | c.3424A>T (p.Ser1142Cys) c.3388A>T (p.Ser1130Cys) c.469A>T (p.Ser157Cys) | COSMIC |
11 | g.17594147G>A | CA379784138 | OTOG | c.3425G>A (p.Ser1142Asn) c.3389G>A (p.Ser1130Asn) c.470G>A (p.Ser157Asn) | dbSNP |
11 | g.17594147G>C | CA379784139 | OTOG | c.3425G>C (p.Ser1142Thr) c.3389G>C (p.Ser1130Thr) c.470G>C (p.Ser157Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17594147G= | CA1955217157 | OTOG | c.3425G= (p.Ser1142=) c.3389G= (p.Ser1130=) c.470G= (p.Ser157=) | |
11 | g.17594147G>T | CA379784142 | OTOG | c.3425G>T (p.Ser1142Ile) c.3389G>T (p.Ser1130Ile) c.470G>T (p.Ser157Ile) | |
11 | g.17594148C>A | CA5905729 | OTOG | c.3426C>A (p.Ser1142Arg) c.3390C>A (p.Ser1130Arg) c.471C>A (p.Ser157Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17594148C= | CA1955217158 | OTOG | c.3426C= (p.Ser1142=) c.3390C= (p.Ser1130=) c.471C= (p.Ser157=) | |
11 | g.17594148C>G | CA379784148 | OTOG | c.3426C>G (p.Ser1142Arg) c.3390C>G (p.Ser1130Arg) c.471C>G (p.Ser157Arg) | |
11 | g.17594148C>T | CA473302632 | OTOG | c.3426C>T (p.Ser1142=) c.3390C>T (p.Ser1130=) c.471C>T (p.Ser157=) |