Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17594048G>ACA379783512OTOGc.3326G>A (p.Gly1109Asp)
c.3290G>A (p.Gly1097Asp)
c.371G>A (p.Gly124Asp)
gnomAD v4
11g.17594048G>CCA379783513OTOGc.3326G>C (p.Gly1109Ala)
c.3290G>C (p.Gly1097Ala)
c.371G>C (p.Gly124Ala)
dbSNP gnomAD v3 gnomAD v4
11g.17594048G=CA1955217104OTOGc.3326G= (p.Gly1109=)
c.3290G= (p.Gly1097=)
c.371G= (p.Gly124=)
11g.17594048G>TCA379783516OTOGc.3326G>T (p.Gly1109Val)
c.3290G>T (p.Gly1097Val)
c.371G>T (p.Gly124Val)
11g.17594049C>ACA473302470OTOGc.3327C>A (p.Gly1109=)
c.3291C>A (p.Gly1097=)
c.372C>A (p.Gly124=)
11g.17594049C>GCA473302474OTOGc.3327C>G (p.Gly1109=)
c.3291C>G (p.Gly1097=)
c.372C>G (p.Gly124=)
11g.17594049C>TCA473302472OTOGc.3327C>T (p.Gly1109=)
c.3291C>T (p.Gly1097=)
c.372C>T (p.Gly124=)
gnomAD v4
11g.17594050C>ACA379783521OTOGc.3328C>A (p.Gln1110Lys)
c.3292C>A (p.Gln1098Lys)
c.373C>A (p.Gln125Lys)
11g.17594050C=CA1955217105OTOGc.3328C= (p.Gln1110=)
c.3292C= (p.Gln1098=)
c.373C= (p.Gln125=)
11g.17594050C>GCA379783523OTOGc.3328C>G (p.Gln1110Glu)
c.3292C>G (p.Gln1098Glu)
c.373C>G (p.Gln125Glu)
11g.17594050C>TCA5905723OTOGc.3328C>T (p.Gln1110Ter)
c.3292C>T (p.Gln1098Ter)
c.373C>T (p.Gln125Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.17594051A>CCA379783525OTOGc.3329A>C (p.Gln1110Pro)
c.3293A>C (p.Gln1098Pro)
c.374A>C (p.Gln125Pro)
11g.17594051A>GCA379783526OTOGc.3329A>G (p.Gln1110Arg)
c.3293A>G (p.Gln1098Arg)
c.374A>G (p.Gln125Arg)
11g.17594051A>TCA379783528OTOGc.3329A>T (p.Gln1110Leu)
c.3293A>T (p.Gln1098Leu)
c.374A>T (p.Gln125Leu)
11g.17594052G>ACA473302479OTOGc.3330G>A (p.Gln1110=)
c.3294G>A (p.Gln1098=)
c.375G>A (p.Gln125=)
dbSNP
11g.17594052G>CCA379783534OTOGc.3330G>C (p.Gln1110His)
c.3294G>C (p.Gln1098His)
c.375G>C (p.Gln125His)
11g.17594052G=CA1955217106OTOGc.3330G= (p.Gln1110=)
c.3294G= (p.Gln1098=)
c.375G= (p.Gln125=)
11g.17594052G>TCA379783538OTOGc.3330G>T (p.Gln1110His)
c.3294G>T (p.Gln1098His)
c.375G>T (p.Gln125His)
11g.17594053C>ACA379783541OTOGc.3331C>A (p.Leu1111Met)
c.3295C>A (p.Leu1099Met)
c.376C>A (p.Leu126Met)
11g.17594053C>GCA379783542OTOGc.3331C>G (p.Leu1111Val)
c.3295C>G (p.Leu1099Val)
c.376C>G (p.Leu126Val)
11g.17594053C>TCA473302482OTOGc.3331C>T (p.Leu1111=)
c.3295C>T (p.Leu1099=)
c.376C>T (p.Leu126=)
11g.17594054T>ACA379783547OTOGc.3332T>A (p.Leu1111Gln)
c.3296T>A (p.Leu1099Gln)
c.377T>A (p.Leu126Gln)
11g.17594054T>CCA379783545OTOGc.3332T>C (p.Leu1111Pro)
c.3296T>C (p.Leu1099Pro)
c.377T>C (p.Leu126Pro)
11g.17594054T>GCA379783543OTOGc.3332T>G (p.Leu1111Arg)
c.3296T>G (p.Leu1099Arg)
c.377T>G (p.Leu126Arg)
dbSNP
11g.17594054T=CA1955217107OTOGc.3332T= (p.Leu1111=)
c.3296T= (p.Leu1099=)
c.377T= (p.Leu126=)
11g.17594055G>ACA473302489OTOGc.3333G>A (p.Leu1111=)
c.3297G>A (p.Leu1099=)
c.378G>A (p.Leu126=)
11g.17594055G>CCA473302490OTOGc.3333G>C (p.Leu1111=)
c.3297G>C (p.Leu1099=)
c.378G>C (p.Leu126=)
11g.17594055G>TCA473302491OTOGc.3333G>T (p.Leu1111=)
c.3297G>T (p.Leu1099=)
c.378G>T (p.Leu126=)
11g.17594056G>ACA379783550OTOGc.3334G>A (p.Ala1112Thr)
c.3298G>A (p.Ala1100Thr)
c.379G>A (p.Ala127Thr)
dbSNP gnomAD v2 gnomAD v4
11g.17594056G>CCA379783554OTOGc.3334G>C (p.Ala1112Pro)
c.3298G>C (p.Ala1100Pro)
c.379G>C (p.Ala127Pro)
dbSNP
11g.17594056G=CA1955217108OTOGc.3334G= (p.Ala1112=)
c.3298G= (p.Ala1100=)
c.379G= (p.Ala127=)
11g.17594056G>TCA379783556OTOGc.3334G>T (p.Ala1112Ser)
c.3298G>T (p.Ala1100Ser)
c.379G>T (p.Ala127Ser)
11g.17594057C>ACA379783558OTOGc.3335C>A (p.Ala1112Glu)
c.3299C>A (p.Ala1100Glu)
c.380C>A (p.Ala127Glu)
dbSNP
11g.17594057C=CA1955217109OTOGc.3335C= (p.Ala1112=)
c.3299C= (p.Ala1100=)
c.380C= (p.Ala127=)
11g.17594057C>GCA379783561OTOGc.3335C>G (p.Ala1112Gly)
c.3299C>G (p.Ala1100Gly)
c.380C>G (p.Ala127Gly)
11g.17594057C>TCA5905724OTOGc.3335C>T (p.Ala1112Val)
c.3299C>T (p.Ala1100Val)
c.380C>T (p.Ala127Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594058G>ACA218460448OTOGc.3336G>A (p.Ala1112=)
c.3300G>A (p.Ala1100=)
c.381G>A (p.Ala127=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594058G>CCA218460449OTOGc.3336G>C (p.Ala1112=)
c.3300G>C (p.Ala1100=)
c.381G>C (p.Ala127=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594058G=CA1955217110OTOGc.3336G= (p.Ala1112=)
c.3300G= (p.Ala1100=)
c.381G= (p.Ala127=)
11g.17594058G>TCA473302494OTOGc.3336G>T (p.Ala1112=)
c.3300G>T (p.Ala1100=)
c.381G>T (p.Ala127=)
dbSNP gnomAD v2 gnomAD v4
11g.17594059G>ACA218460450OTOGc.3337G>A (p.Gly1113Ser)
c.3301G>A (p.Gly1101Ser)
c.382G>A (p.Gly128Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.17594059G>CCA379783569OTOGc.3337G>C (p.Gly1113Arg)
c.3301G>C (p.Gly1101Arg)
c.382G>C (p.Gly128Arg)
11g.17594059G=CA1955217111OTOGc.3337G= (p.Gly1113=)
c.3301G= (p.Gly1101=)
c.382G= (p.Gly128=)
11g.17594059G>TCA379783570OTOGc.3337G>T (p.Gly1113Cys)
c.3301G>T (p.Gly1101Cys)
c.382G>T (p.Gly128Cys)
11g.17594060G>ACA379783574OTOGc.3338G>A (p.Gly1113Asp)
c.3302G>A (p.Gly1101Asp)
c.383G>A (p.Gly128Asp)
11g.17594060G>CCA379783576OTOGc.3338G>C (p.Gly1113Ala)
c.3302G>C (p.Gly1101Ala)
c.383G>C (p.Gly128Ala)
11g.17594060G>TCA379783580OTOGc.3338G>T (p.Gly1113Val)
c.3302G>T (p.Gly1101Val)
c.383G>T (p.Gly128Val)
11g.17594061C>ACA473302495OTOGc.3339C>A (p.Gly1113=)
c.3303C>A (p.Gly1101=)
c.384C>A (p.Gly128=)
11g.17594061C=CA1955217112OTOGc.3339C= (p.Gly1113=)
c.3303C= (p.Gly1101=)
c.384C= (p.Gly128=)
11g.17594061C>GCA473302496OTOGc.3339C>G (p.Gly1113=)
c.3303C>G (p.Gly1101=)
c.384C>G (p.Gly128=)
11g.17594061C>TCA218460454OTOGc.3339C>T (p.Gly1113=)
c.3303C>T (p.Gly1101=)
c.384C>T (p.Gly128=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594062C>ACA379783598OTOGc.3340C>A (p.Leu1114Ile)
c.3304C>A (p.Leu1102Ile)
c.385C>A (p.Leu129Ile)
11g.17594062C=CA1955217113OTOGc.3340C= (p.Leu1114=)
c.3304C= (p.Leu1102=)
c.385C= (p.Leu129=)
11g.17594062C>GCA379783601OTOGc.3340C>G (p.Leu1114Val)
c.3304C>G (p.Leu1102Val)
c.385C>G (p.Leu129Val)
11g.17594062C>TCA379783586OTOGc.3340C>T (p.Leu1114Phe)
c.3304C>T (p.Leu1102Phe)
c.385C>T (p.Leu129Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594063T>ACA379783603OTOGc.3341T>A (p.Leu1114His)
c.3305T>A (p.Leu1102His)
c.386T>A (p.Leu129His)
11g.17594063T>CCA379783604OTOGc.3341T>C (p.Leu1114Pro)
c.3305T>C (p.Leu1102Pro)
c.386T>C (p.Leu129Pro)
dbSNP gnomAD v3 gnomAD v4
11g.17594063T>GCA379783606OTOGc.3341T>G (p.Leu1114Arg)
c.3305T>G (p.Leu1102Arg)
c.386T>G (p.Leu129Arg)
11g.17594063T=CA1955217114OTOGc.3341T= (p.Leu1114=)
c.3305T= (p.Leu1102=)
c.386T= (p.Leu129=)
11g.17594064C>ACA473302503OTOGc.3342C>A (p.Leu1114=)
c.3306C>A (p.Leu1102=)
c.387C>A (p.Leu129=)
11g.17594064C=CA1955217115OTOGc.3342C= (p.Leu1114=)
c.3306C= (p.Leu1102=)
c.387C= (p.Leu129=)
11g.17594064C>GCA473302504OTOGc.3342C>G (p.Leu1114=)
c.3306C>G (p.Leu1102=)
c.387C>G (p.Leu129=)
11g.17594064C>TCA218460459OTOGc.3342C>T (p.Leu1114=)
c.3306C>T (p.Leu1102=)
c.387C>T (p.Leu129=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594065T>ACA379783607OTOGc.3343T>A (p.Cys1115Ser)
c.3307T>A (p.Cys1103Ser)
c.388T>A (p.Cys130Ser)
11g.17594065T>CCA379783610OTOGc.3343T>C (p.Cys1115Arg)
c.3307T>C (p.Cys1103Arg)
c.388T>C (p.Cys130Arg)
11g.17594065T>GCA379783612OTOGc.3343T>G (p.Cys1115Gly)
c.3307T>G (p.Cys1103Gly)
c.388T>G (p.Cys130Gly)
11g.17594066G>ACA379783620OTOGc.3344G>A (p.Cys1115Tyr)
c.3308G>A (p.Cys1103Tyr)
c.389G>A (p.Cys130Tyr)
11g.17594066G>CCA379783613OTOGc.3344G>C (p.Cys1115Ser)
c.3308G>C (p.Cys1103Ser)
c.389G>C (p.Cys130Ser)
11g.17594066G=CA1955217116OTOGc.3344G= (p.Cys1115=)
c.3308G= (p.Cys1103=)
c.389G= (p.Cys130=)
11g.17594066G>TCA379783615OTOGc.3344G>T (p.Cys1115Phe)
c.3308G>T (p.Cys1103Phe)
c.389G>T (p.Cys130Phe)
dbSNP gnomAD v2 gnomAD v4
11g.17594067T>ACA379783623OTOGc.3345T>A (p.Cys1115Ter)
c.3309T>A (p.Cys1103Ter)
c.390T>A (p.Cys130Ter)
gnomAD v4
11g.17594067T>CCA473302509OTOGc.3345T>C (p.Cys1115=)
c.3309T>C (p.Cys1103=)
c.390T>C (p.Cys130=)
dbSNP
11g.17594067T>GCA379783627OTOGc.3345T>G (p.Cys1115Trp)
c.3309T>G (p.Cys1103Trp)
c.390T>G (p.Cys130Trp)
11g.17594067T=CA1955217117OTOGc.3345T= (p.Cys1115=)
c.3309T= (p.Cys1103=)
c.390T= (p.Cys130=)
11g.17594068G>ACA379783630OTOGc.3346G>A (p.Gly1116Arg)
c.3310G>A (p.Gly1104Arg)
c.391G>A (p.Gly131Arg)
11g.17594068G>CCA379783637OTOGc.3346G>C (p.Gly1116Arg)
c.3310G>C (p.Gly1104Arg)
c.391G>C (p.Gly131Arg)
11g.17594068G>TCA379783638OTOGc.3346G>T (p.Gly1116Trp)
c.3310G>T (p.Gly1104Trp)
c.391G>T (p.Gly131Trp)
11g.17594069G>ACA218460461OTOGc.3347G>A (p.Gly1116Glu)
c.3311G>A (p.Gly1104Glu)
c.392G>A (p.Gly131Glu)
dbSNP gnomAD v3 gnomAD v4
11g.17594069G>CCA379783648OTOGc.3347G>C (p.Gly1116Ala)
c.3311G>C (p.Gly1104Ala)
c.392G>C (p.Gly131Ala)
11g.17594069G=CA1955217118OTOGc.3347G= (p.Gly1116=)
c.3311G= (p.Gly1104=)
c.392G= (p.Gly131=)
11g.17594069G>TCA379783646OTOGc.3347G>T (p.Gly1116Val)
c.3311G>T (p.Gly1104Val)
c.392G>T (p.Gly131Val)
11g.17594070G>ACA218460465OTOGc.3348G>A (p.Gly1116=)
c.3312G>A (p.Gly1104=)
c.393G>A (p.Gly131=)
ClinVar dbSNP gnomAD v4
11g.17594070G>CCA473302516OTOGc.3348G>C (p.Gly1116=)
c.3312G>C (p.Gly1104=)
c.393G>C (p.Gly131=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594070G=CA1955217119OTOGc.3348G= (p.Gly1116=)
c.3312G= (p.Gly1104=)
c.393G= (p.Gly131=)
11g.17594070G>TCA473302515OTOGc.3348G>T (p.Gly1116=)
c.3312G>T (p.Gly1104=)
c.393G>T (p.Gly131=)
11g.17594071A>CCA379783650OTOGc.3349A>C (p.Asn1117His)
c.3313A>C (p.Asn1105His)
c.394A>C (p.Asn132His)
11g.17594071A>GCA379783652OTOGc.3349A>G (p.Asn1117Asp)
c.3313A>G (p.Asn1105Asp)
c.394A>G (p.Asn132Asp)
11g.17594071A>TCA379783654OTOGc.3349A>T (p.Asn1117Tyr)
c.3313A>T (p.Asn1105Tyr)
c.394A>T (p.Asn132Tyr)
11g.17594072A=CA1955217120OTOGc.3350A= (p.Asn1117=)
c.3314A= (p.Asn1105=)
c.395A= (p.Asn132=)
11g.17594072A>CCA379783660OTOGc.3350A>C (p.Asn1117Thr)
c.3314A>C (p.Asn1105Thr)
c.395A>C (p.Asn132Thr)
gnomAD v4
11g.17594072A>GCA379783664OTOGc.3350A>G (p.Asn1117Ser)
c.3314A>G (p.Asn1105Ser)
c.395A>G (p.Asn132Ser)
gnomAD v4
11g.17594072A>TCA379783666OTOGc.3350A>T (p.Asn1117Ile)
c.3314A>T (p.Asn1105Ile)
c.395A>T (p.Asn132Ile)
dbSNP gnomAD v4
11g.17594073C>ACA379783669OTOGc.3351C>A (p.Asn1117Lys)
c.3315C>A (p.Asn1105Lys)
c.396C>A (p.Asn132Lys)
11g.17594073C=CA1955217121OTOGc.3351C= (p.Asn1117=)
c.3315C= (p.Asn1105=)
c.396C= (p.Asn132=)
11g.17594073C>GCA379783670OTOGc.3351C>G (p.Asn1117Lys)
c.3315C>G (p.Asn1105Lys)
c.396C>G (p.Asn132Lys)
11g.17594073C>TCA473302519OTOGc.3351C>T (p.Asn1117=)
c.3315C>T (p.Asn1105=)
c.396C>T (p.Asn132=)
dbSNP gnomAD v3 gnomAD v4
11g.17594074T>ACA379783674OTOGc.3352T>A (p.Phe1118Ile)
c.3316T>A (p.Phe1106Ile)
c.397T>A (p.Phe133Ile)
11g.17594074T>CCA379783677OTOGc.3352T>C (p.Phe1118Leu)
c.3316T>C (p.Phe1106Leu)
c.397T>C (p.Phe133Leu)
11g.17594074T>GCA379783682OTOGc.3352T>G (p.Phe1118Val)
c.3316T>G (p.Phe1106Val)
c.397T>G (p.Phe133Val)
11g.17594075T>ACA379783685OTOGc.3353T>A (p.Phe1118Tyr)
c.3317T>A (p.Phe1106Tyr)
c.398T>A (p.Phe133Tyr)
11g.17594075T>CCA379783686OTOGc.3353T>C (p.Phe1118Ser)
c.3317T>C (p.Phe1106Ser)
c.398T>C (p.Phe133Ser)
11g.17594075T>GCA379783683OTOGc.3353T>G (p.Phe1118Cys)
c.3317T>G (p.Phe1106Cys)
c.398T>G (p.Phe133Cys)
11g.17594076T>ACA379783690OTOGc.3354T>A (p.Phe1118Leu)
c.3318T>A (p.Phe1106Leu)
c.399T>A (p.Phe133Leu)
11g.17594076T>CCA473302522OTOGc.3354T>C (p.Phe1118=)
c.3318T>C (p.Phe1106=)
c.399T>C (p.Phe133=)
dbSNP gnomAD v3 gnomAD v4
11g.17594076T>GCA379783688OTOGc.3354T>G (p.Phe1118Leu)
c.3318T>G (p.Phe1106Leu)
c.399T>G (p.Phe133Leu)
11g.17594076T=CA1955217122OTOGc.3354T= (p.Phe1118=)
c.3318T= (p.Phe1106=)
c.399T= (p.Phe133=)
11g.17594077G>ACA379783699OTOGc.3355G>A (p.Asp1119Asn)
c.3319G>A (p.Asp1107Asn)
c.400G>A (p.Asp134Asn)
11g.17594077G>CCA379783694OTOGc.3355G>C (p.Asp1119His)
c.3319G>C (p.Asp1107His)
c.400G>C (p.Asp134His)
11g.17594077G>TCA379783701OTOGc.3355G>T (p.Asp1119Tyr)
c.3319G>T (p.Asp1107Tyr)
c.400G>T (p.Asp134Tyr)
gnomAD v4
11g.17594078A>CCA379783707OTOGc.3356A>C (p.Asp1119Ala)
c.3320A>C (p.Asp1107Ala)
c.401A>C (p.Asp134Ala)
11g.17594078A>GCA379783708OTOGc.3356A>G (p.Asp1119Gly)
c.3320A>G (p.Asp1107Gly)
c.401A>G (p.Asp134Gly)
gnomAD v4
11g.17594078A>TCA379783713OTOGc.3356A>T (p.Asp1119Val)
c.3320A>T (p.Asp1107Val)
c.401A>T (p.Asp134Val)
11g.17594079C>ACA379783716OTOGc.3357C>A (p.Asp1119Glu)
c.3321C>A (p.Asp1107Glu)
c.402C>A (p.Asp134Glu)
11g.17594079C=CA1955217123OTOGc.3357C= (p.Asp1119=)
c.3321C= (p.Asp1107=)
c.402C= (p.Asp134=)
11g.17594079C>GCA379783720OTOGc.3357C>G (p.Asp1119Glu)
c.3321C>G (p.Asp1107Glu)
c.402C>G (p.Asp134Glu)
11g.17594079C>TCA473302529OTOGc.3357C>T (p.Asp1119=)
c.3321C>T (p.Asp1107=)
c.402C>T (p.Asp134=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594080T>ACA379783728OTOGc.3358T>A (p.Leu1120Ile)
c.3322T>A (p.Leu1108Ile)
c.403T>A (p.Leu135Ile)
11g.17594080T>CCA473302531OTOGc.3358T>C (p.Leu1120=)
c.3322T>C (p.Leu1108=)
c.403T>C (p.Leu135=)
11g.17594080T>GCA379783730OTOGc.3358T>G (p.Leu1120Val)
c.3322T>G (p.Leu1108Val)
c.403T>G (p.Leu135Val)
11g.17594081T>ACA379783732OTOGc.3359T>A (p.Leu1120Ter)
c.3323T>A (p.Leu1108Ter)
c.404T>A (p.Leu135Ter)
gnomAD v4
11g.17594081T>CCA379783734OTOGc.3359T>C (p.Leu1120Ser)
c.3323T>C (p.Leu1108Ser)
c.404T>C (p.Leu135Ser)
11g.17594081T>GCA379783737OTOGc.3359T>G (p.Leu1120Ter)
c.3323T>G (p.Leu1108Ter)
c.404T>G (p.Leu135Ter)
gnomAD v4
11g.17594082A>CCA379783740OTOGc.3360A>C (p.Leu1120Phe)
c.3324A>C (p.Leu1108Phe)
c.405A>C (p.Leu135Phe)
11g.17594082A>GCA473302536OTOGc.3360A>G (p.Leu1120=)
c.3324A>G (p.Leu1108=)
c.405A>G (p.Leu135=)
11g.17594082A>TCA379783741OTOGc.3360A>T (p.Leu1120Phe)
c.3324A>T (p.Leu1108Phe)
c.405A>T (p.Leu135Phe)
dbSNP
11g.17594083A>CCA379783750OTOGc.3361A>C (p.Lys1121Gln)
c.3325A>C (p.Lys1109Gln)
c.406A>C (p.Lys136Gln)
11g.17594083A>GCA379783745OTOGc.3361A>G (p.Lys1121Glu)
c.3325A>G (p.Lys1109Glu)
c.406A>G (p.Lys136Glu)
11g.17594083A>TCA379783748OTOGc.3361A>T (p.Lys1121Ter)
c.3325A>T (p.Lys1109Ter)
c.406A>T (p.Lys136Ter)
11g.17594084A>CCA379783755OTOGc.3362A>C (p.Lys1121Thr)
c.3326A>C (p.Lys1109Thr)
c.407A>C (p.Lys136Thr)
11g.17594084A>GCA379783757OTOGc.3362A>G (p.Lys1121Arg)
c.3326A>G (p.Lys1109Arg)
c.407A>G (p.Lys136Arg)
11g.17594084A>TCA379783759OTOGc.3362A>T (p.Lys1121Ile)
c.3326A>T (p.Lys1109Ile)
c.407A>T (p.Lys136Ile)
11g.17594085A>CCA379783760OTOGc.3363A>C (p.Lys1121Asn)
c.3327A>C (p.Lys1109Asn)
c.408A>C (p.Lys136Asn)
11g.17594085A>GCA473302538OTOGc.3363A>G (p.Lys1121=)
c.3327A>G (p.Lys1109=)
c.408A>G (p.Lys136=)
11g.17594085A>TCA379783762OTOGc.3363A>T (p.Lys1121Asn)
c.3327A>T (p.Lys1109Asn)
c.408A>T (p.Lys136Asn)
11g.17594086A=CA1955217124OTOGc.3364A= (p.Thr1122=)
c.3328A= (p.Thr1110=)
c.409A= (p.Thr137=)
11g.17594086A>CCA379783763OTOGc.3364A>C (p.Thr1122Pro)
c.3328A>C (p.Thr1110Pro)
c.409A>C (p.Thr137Pro)
11g.17594086A>GCA379783766OTOGc.3364A>G (p.Thr1122Ala)
c.3328A>G (p.Thr1110Ala)
c.409A>G (p.Thr137Ala)
gnomAD v4 COSMIC
11g.17594086A>TCA379783767OTOGc.3364A>T (p.Thr1122Ser)
c.3328A>T (p.Thr1110Ser)
c.409A>T (p.Thr137Ser)
dbSNP gnomAD v4
11g.17594087C>ACA379783769OTOGc.3365C>A (p.Thr1122Asn)
c.3329C>A (p.Thr1110Asn)
c.410C>A (p.Thr137Asn)
11g.17594087C>GCA379783774OTOGc.3365C>G (p.Thr1122Ser)
c.3329C>G (p.Thr1110Ser)
c.410C>G (p.Thr137Ser)
11g.17594087C>TCA379783779OTOGc.3365C>T (p.Thr1122Ile)
c.3329C>T (p.Thr1110Ile)
c.410C>T (p.Thr137Ile)
11g.17594088C>ACA473302542OTOGc.3366C>A (p.Thr1122=)
c.3330C>A (p.Thr1110=)
c.411C>A (p.Thr137=)
11g.17594088C=CA1955217125OTOGc.3366C= (p.Thr1122=)
c.3330C= (p.Thr1110=)
c.411C= (p.Thr137=)
11g.17594088C>GCA473302543OTOGc.3366C>G (p.Thr1122=)
c.3330C>G (p.Thr1110=)
c.411C>G (p.Thr137=)
dbSNP gnomAD v3 gnomAD v4
11g.17594088C>TCA473302544OTOGc.3366C>T (p.Thr1122=)
c.3330C>T (p.Thr1110=)
c.411C>T (p.Thr137=)
11g.17594089A=CA1955217126OTOGc.3367A= (p.Ile1123=)
c.3331A= (p.Ile1111=)
c.412A= (p.Ile138=)
11g.17594089A>CCA379783783OTOGc.3367A>C (p.Ile1123Leu)
c.3331A>C (p.Ile1111Leu)
c.412A>C (p.Ile138Leu)
11g.17594089A>GCA218460471OTOGc.3367A>G (p.Ile1123Val)
c.3331A>G (p.Ile1111Val)
c.412A>G (p.Ile138Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594089A>TCA379783782OTOGc.3367A>T (p.Ile1123Phe)
c.3331A>T (p.Ile1111Phe)
c.412A>T (p.Ile138Phe)
gnomAD v4
11g.17594090T>ACA379783787OTOGc.3368T>A (p.Ile1123Asn)
c.3332T>A (p.Ile1111Asn)
c.413T>A (p.Ile138Asn)
11g.17594090T>CCA379783797OTOGc.3368T>C (p.Ile1123Thr)
c.3332T>C (p.Ile1111Thr)
c.413T>C (p.Ile138Thr)
gnomAD v4
11g.17594090T>GCA379783802OTOGc.3368T>G (p.Ile1123Ser)
c.3332T>G (p.Ile1111Ser)
c.413T>G (p.Ile138Ser)
11g.17594091C>ACA473302551OTOGc.3369C>A (p.Ile1123=)
c.3333C>A (p.Ile1111=)
c.414C>A (p.Ile138=)
11g.17594091C>GCA379783806OTOGc.3369C>G (p.Ile1123Met)
c.3333C>G (p.Ile1111Met)
c.414C>G (p.Ile138Met)
11g.17594091C>TCA473302552OTOGc.3369C>T (p.Ile1123=)
c.3333C>T (p.Ile1111=)
c.414C>T (p.Ile138=)
11g.17594092A>CCA379783814OTOGc.3370A>C (p.Asn1124His)
c.3334A>C (p.Asn1112His)
c.415A>C (p.Asn139His)
11g.17594092A>GCA379783816OTOGc.3370A>G (p.Asn1124Asp)
c.3334A>G (p.Asn1112Asp)
c.415A>G (p.Asn139Asp)
11g.17594092A>TCA379783817OTOGc.3370A>T (p.Asn1124Tyr)
c.3334A>T (p.Asn1112Tyr)
c.415A>T (p.Asn139Tyr)
11g.17594093A=CA1955217127OTOGc.3371A= (p.Asn1124=)
c.3335A= (p.Asn1112=)
c.416A= (p.Asn139=)
11g.17594093A>CCA379783820OTOGc.3371A>C (p.Asn1124Thr)
c.3335A>C (p.Asn1112Thr)
c.416A>C (p.Asn139Thr)
11g.17594093A>GCA16619296OTOGc.3371A>G (p.Asn1124Ser)
c.3335A>G (p.Asn1112Ser)
c.416A>G (p.Asn139Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594093A>TCA379783823OTOGc.3371A>T (p.Asn1124Ile)
c.3335A>T (p.Asn1112Ile)
c.416A>T (p.Asn139Ile)
11g.17594094T>ACA379783825OTOGc.3372T>A (p.Asn1124Lys)
c.3336T>A (p.Asn1112Lys)
c.417T>A (p.Asn139Lys)
11g.17594094T>CCA473302553OTOGc.3372T>C (p.Asn1124=)
c.3336T>C (p.Asn1112=)
c.417T>C (p.Asn139=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17594094T>GCA379783830OTOGc.3372T>G (p.Asn1124Lys)
c.3336T>G (p.Asn1112Lys)
c.417T>G (p.Asn139Lys)
gnomAD v4
11g.17594094T=CA1955217128OTOGc.3372T= (p.Asn1124=)
c.3336T= (p.Asn1112=)
c.417T= (p.Asn139=)
11g.17594095G>ACA379783842OTOGc.3373G>A (p.Glu1125Lys)
c.3337G>A (p.Glu1113Lys)
c.418G>A (p.Glu140Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594095G>CCA379783846OTOGc.3373G>C (p.Glu1125Gln)
c.3337G>C (p.Glu1113Gln)
c.418G>C (p.Glu140Gln)
11g.17594095G=CA1955217129OTOGc.3373G= (p.Glu1125=)
c.3337G= (p.Glu1113=)
c.418G= (p.Glu140=)
11g.17594095G>TCA379783835OTOGc.3373G>T (p.Glu1125Ter)
c.3337G>T (p.Glu1113Ter)
c.418G>T (p.Glu140Ter)
11g.17594096A>CCA379783850OTOGc.3374A>C (p.Glu1125Ala)
c.3338A>C (p.Glu1113Ala)
c.419A>C (p.Glu140Ala)
11g.17594096A>GCA379783851OTOGc.3374A>G (p.Glu1125Gly)
c.3338A>G (p.Glu1113Gly)
c.419A>G (p.Glu140Gly)
11g.17594096A>TCA379783852OTOGc.3374A>T (p.Glu1125Val)
c.3338A>T (p.Glu1113Val)
c.419A>T (p.Glu140Val)
11g.17594097G>ACA473302554OTOGc.3375G>A (p.Glu1125=)
c.3339G>A (p.Glu1113=)
c.420G>A (p.Glu140=)
11g.17594097G>CCA379783853OTOGc.3375G>C (p.Glu1125Asp)
c.3339G>C (p.Glu1113Asp)
c.420G>C (p.Glu140Asp)
gnomAD v4
11g.17594097G>TCA379783855OTOGc.3375G>T (p.Glu1125Asp)
c.3339G>T (p.Glu1113Asp)
c.420G>T (p.Glu140Asp)
11g.17594098A=CA1955217130OTOGc.3376A= (p.Met1126=)
c.3340A= (p.Met1114=)
c.421A= (p.Met141=)
11g.17594098A>CCA379783862OTOGc.3376A>C (p.Met1126Leu)
c.3340A>C (p.Met1114Leu)
c.421A>C (p.Met141Leu)
dbSNP
11g.17594098A>GCA379783858OTOGc.3376A>G (p.Met1126Val)
c.3340A>G (p.Met1114Val)
c.421A>G (p.Met141Val)
11g.17594098A>TCA379783861OTOGc.3376A>T (p.Met1126Leu)
c.3340A>T (p.Met1114Leu)
c.421A>T (p.Met141Leu)
11g.17594099T>ACA379783863OTOGc.3377T>A (p.Met1126Lys)
c.3341T>A (p.Met1114Lys)
c.422T>A (p.Met141Lys)
11g.17594099T>CCA379783864OTOGc.3377T>C (p.Met1126Thr)
c.3341T>C (p.Met1114Thr)
c.422T>C (p.Met141Thr)
11g.17594099T>GCA379783865OTOGc.3377T>G (p.Met1126Arg)
c.3341T>G (p.Met1114Arg)
c.422T>G (p.Met141Arg)
11g.17594099T=CA1955217132OTOGc.3377T= (p.Met1126=)
c.3341T= (p.Met1114=)
c.422T= (p.Met141=)
11g.17594099_17594108delinsTGAGGACCCCCA1955217131OTOGc.3377_3386delinsTGAGGACCCC (p.Met1126=)
c.3341_3350delinsTGAGGACCCC (p.Met1114=)
c.422_431delinsTGAGGACCCC (p.Met141=)
11g.17594100G>ACA379783868OTOGc.3378G>A (p.Met1126Ile)
c.3342G>A (p.Met1114Ile)
c.423G>A (p.Met141Ile)
11g.17594100G>CCA379783871OTOGc.3378G>C (p.Met1126Ile)
c.3342G>C (p.Met1114Ile)
c.423G>C (p.Met141Ile)
11g.17594100G>TCA379783879OTOGc.3378G>T (p.Met1126Ile)
c.3342G>T (p.Met1114Ile)
c.423G>T (p.Met141Ile)
11g.17594101_17594109delCA674245776OTOGc.3379_3387del (p.Arg1127_Pro1129del)
c.3343_3351del (p.Arg1115_Pro1117del)
c.424_432del (p.Arg142_Pro144del)
dbSNP gnomAD v3 gnomAD v4
11g.17594103_17594112dupCA218460480OTOGc.3381_3390dup (p.Asn1131AspfsTer9)
c.3345_3354dup (p.Asn1119AspfsTer9)
c.426_435dup (p.Asn146AspfsTer9)
dbSNP
11g.17594101A>CCA473302555OTOGc.3379A>C (p.Arg1127=)
c.3343A>C (p.Arg1115=)
c.424A>C (p.Arg142=)
11g.17594101A>GCA379783883OTOGc.3379A>G (p.Arg1127Gly)
c.3343A>G (p.Arg1115Gly)
c.424A>G (p.Arg142Gly)
11g.17594101A>TCA379783882OTOGc.3379A>T (p.Arg1127Trp)
c.3343A>T (p.Arg1115Trp)
c.424A>T (p.Arg142Trp)
11g.17594102G>ACA379783884OTOGc.3380G>A (p.Arg1127Lys)
c.3344G>A (p.Arg1115Lys)
c.425G>A (p.Arg142Lys)
dbSNP
11g.17594102G>CCA379783886OTOGc.3380G>C (p.Arg1127Thr)
c.3344G>C (p.Arg1115Thr)
c.425G>C (p.Arg142Thr)
11g.17594102G=CA1955217133OTOGc.3380G= (p.Arg1127=)
c.3344G= (p.Arg1115=)
c.425G= (p.Arg142=)
11g.17594102G>TCA379783885OTOGc.3380G>T (p.Arg1127Met)
c.3344G>T (p.Arg1115Met)
c.425G>T (p.Arg142Met)
gnomAD v4
11g.17594103G>ACA473302556OTOGc.3381G>A (p.Arg1127=)
c.3345G>A (p.Arg1115=)
c.426G>A (p.Arg142=)
11g.17594103G>CCA379783888OTOGc.3381G>C (p.Arg1127Ser)
c.3345G>C (p.Arg1115Ser)
c.426G>C (p.Arg142Ser)
11g.17594103G>TCA379783889OTOGc.3381G>T (p.Arg1127Ser)
c.3345G>T (p.Arg1115Ser)
c.426G>T (p.Arg142Ser)
11g.17594104A>CCA379783890OTOGc.3382A>C (p.Thr1128Pro)
c.3346A>C (p.Thr1116Pro)
c.427A>C (p.Thr143Pro)
11g.17594104A>GCA379783891OTOGc.3382A>G (p.Thr1128Ala)
c.3346A>G (p.Thr1116Ala)
c.427A>G (p.Thr143Ala)
gnomAD v4
11g.17594104A>TCA379783892OTOGc.3382A>T (p.Thr1128Ser)
c.3346A>T (p.Thr1116Ser)
c.427A>T (p.Thr143Ser)
11g.17594105C>ACA379783894OTOGc.3383C>A (p.Thr1128Asn)
c.3347C>A (p.Thr1116Asn)
c.428C>A (p.Thr143Asn)
dbSNP
11g.17594105C=CA1955217134OTOGc.3383C= (p.Thr1128=)
c.3347C= (p.Thr1116=)
c.428C= (p.Thr143=)
11g.17594105C>GCA379783895OTOGc.3383C>G (p.Thr1128Ser)
c.3347C>G (p.Thr1116Ser)
c.428C>G (p.Thr143Ser)
11g.17594105C>TCA218460482OTOGc.3383C>T (p.Thr1128Ile)
c.3347C>T (p.Thr1116Ile)
c.428C>T (p.Thr143Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594106C>ACA473302560OTOGc.3384C>A (p.Thr1128=)
c.3348C>A (p.Thr1116=)
c.429C>A (p.Thr143=)
dbSNP
11g.17594106C=CA1955217135OTOGc.3384C= (p.Thr1128=)
c.3348C= (p.Thr1116=)
c.429C= (p.Thr143=)
11g.17594106C>GCA473302561OTOGc.3384C>G (p.Thr1128=)
c.3348C>G (p.Thr1116=)
c.429C>G (p.Thr143=)
11g.17594106C>TCA473302562OTOGc.3384C>T (p.Thr1128=)
c.3348C>T (p.Thr1116=)
c.429C>T (p.Thr143=)
11g.17594107C>ACA379783899OTOGc.3385C>A (p.Pro1129Thr)
c.3349C>A (p.Pro1117Thr)
c.430C>A (p.Pro144Thr)
11g.17594107C>GCA379783901OTOGc.3385C>G (p.Pro1129Ala)
c.3349C>G (p.Pro1117Ala)
c.430C>G (p.Pro144Ala)
11g.17594107C>TCA379783905OTOGc.3385C>T (p.Pro1129Ser)
c.3349C>T (p.Pro1117Ser)
c.430C>T (p.Pro144Ser)
gnomAD v4
11g.17594108C>ACA379783909OTOGc.3386C>A (p.Pro1129Gln)
c.3350C>A (p.Pro1117Gln)
c.431C>A (p.Pro144Gln)
11g.17594108C=CA1955217136OTOGc.3386C= (p.Pro1129=)
c.3350C= (p.Pro1117=)
c.431C= (p.Pro144=)
11g.17594108C>GCA379783908OTOGc.3386C>G (p.Pro1129Arg)
c.3350C>G (p.Pro1117Arg)
c.431C>G (p.Pro144Arg)
gnomAD v4
11g.17594108C>TCA5905725OTOGc.3386C>T (p.Pro1129Leu)
c.3350C>T (p.Pro1117Leu)
c.431C>T (p.Pro144Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594109G>ACA5905726OTOGc.3387G>A (p.Pro1129=)
c.3351G>A (p.Pro1117=)
c.432G>A (p.Pro144=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594109G>CCA473302570OTOGc.3387G>C (p.Pro1129=)
c.3351G>C (p.Pro1117=)
c.432G>C (p.Pro144=)
11g.17594109G=CA1955217137OTOGc.3387G= (p.Pro1129=)
c.3351G= (p.Pro1117=)
c.432G= (p.Pro144=)
11g.17594109G>TCA473302569OTOGc.3387G>T (p.Pro1129=)
c.3351G>T (p.Pro1117=)
c.432G>T (p.Pro144=)
11g.17594110G>ACA379783914OTOGc.3388G>A (p.Glu1130Lys)
c.3352G>A (p.Glu1118Lys)
c.433G>A (p.Glu145Lys)
11g.17594110G>CCA379783916OTOGc.3388G>C (p.Glu1130Gln)
c.3352G>C (p.Glu1118Gln)
c.433G>C (p.Glu145Gln)
11g.17594110G>TCA379783919OTOGc.3388G>T (p.Glu1130Ter)
c.3352G>T (p.Glu1118Ter)
c.433G>T (p.Glu145Ter)
11g.17594111A>CCA379783922OTOGc.3389A>C (p.Glu1130Ala)
c.3353A>C (p.Glu1118Ala)
c.434A>C (p.Glu145Ala)
11g.17594111A>GCA379783926OTOGc.3389A>G (p.Glu1130Gly)
c.3353A>G (p.Glu1118Gly)
c.434A>G (p.Glu145Gly)
11g.17594111A>TCA379783929OTOGc.3389A>T (p.Glu1130Val)
c.3353A>T (p.Glu1118Val)
c.434A>T (p.Glu145Val)
11g.17594112G>ACA473302574OTOGc.3390G>A (p.Glu1130=)
c.3354G>A (p.Glu1118=)
c.435G>A (p.Glu145=)
dbSNP gnomAD v2 gnomAD v4
11g.17594112G>CCA379783930OTOGc.3390G>C (p.Glu1130Asp)
c.3354G>C (p.Glu1118Asp)
c.435G>C (p.Glu145Asp)
11g.17594112G=CA1955217138OTOGc.3390G= (p.Glu1130=)
c.3354G= (p.Glu1118=)
c.435G= (p.Glu145=)
11g.17594112G>TCA379783932OTOGc.3390G>T (p.Glu1130Asp)
c.3354G>T (p.Glu1118Asp)
c.435G>T (p.Glu145Asp)
11g.17594113A>CCA379783937OTOGc.3391A>C (p.Asn1131His)
c.3355A>C (p.Asn1119His)
c.436A>C (p.Asn146His)
11g.17594113A>GCA379783939OTOGc.3391A>G (p.Asn1131Asp)
c.3355A>G (p.Asn1119Asp)
c.436A>G (p.Asn146Asp)
11g.17594113A>TCA379783941OTOGc.3391A>T (p.Asn1131Tyr)
c.3355A>T (p.Asn1119Tyr)
c.436A>T (p.Asn146Tyr)
11g.17594114A>CCA379783948OTOGc.3392A>C (p.Asn1131Thr)
c.3356A>C (p.Asn1119Thr)
c.437A>C (p.Asn146Thr)
11g.17594114A>GCA379783946OTOGc.3392A>G (p.Asn1131Ser)
c.3356A>G (p.Asn1119Ser)
c.437A>G (p.Asn146Ser)
11g.17594114A>TCA379783944OTOGc.3392A>T (p.Asn1131Ile)
c.3356A>T (p.Asn1119Ile)
c.437A>T (p.Asn146Ile)
11g.17594115C>ACA379783954OTOGc.3393C>A (p.Asn1131Lys)
c.3357C>A (p.Asn1119Lys)
c.438C>A (p.Asn146Lys)
11g.17594115C=CA1955217139OTOGc.3393C= (p.Asn1131=)
c.3357C= (p.Asn1119=)
c.438C= (p.Asn146=)
11g.17594115C>GCA379783952OTOGc.3393C>G (p.Asn1131Lys)
c.3357C>G (p.Asn1119Lys)
c.438C>G (p.Asn146Lys)
11g.17594115C>TCA473302577OTOGc.3393C>T (p.Asn1131=)
c.3357C>T (p.Asn1119=)
c.438C>T (p.Asn146=)
dbSNP
11g.17594116C>ACA379783956OTOGc.3394C>A (p.Leu1132Ile)
c.3358C>A (p.Leu1120Ile)
c.439C>A (p.Leu147Ile)
11g.17594116C>GCA379783958OTOGc.3394C>G (p.Leu1132Val)
c.3358C>G (p.Leu1120Val)
c.439C>G (p.Leu147Val)
gnomAD v4
11g.17594116C>TCA473302578OTOGc.3394C>T (p.Leu1132=)
c.3358C>T (p.Leu1120=)
c.439C>T (p.Leu147=)
11g.17594117T>ACA379783961OTOGc.3395T>A (p.Leu1132Gln)
c.3359T>A (p.Leu1120Gln)
c.440T>A (p.Leu147Gln)
11g.17594117T>CCA5905727OTOGc.3395T>C (p.Leu1132Pro)
c.3359T>C (p.Leu1120Pro)
c.440T>C (p.Leu147Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594117T>GCA379783966OTOGc.3395T>G (p.Leu1132Arg)
c.3359T>G (p.Leu1120Arg)
c.440T>G (p.Leu147Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17594117T=CA1955217140OTOGc.3395T= (p.Leu1132=)
c.3359T= (p.Leu1120=)
c.440T= (p.Leu147=)
11g.17594118A=CA1955217141OTOGc.3396A= (p.Leu1132=)
c.3360A= (p.Leu1120=)
c.441A= (p.Leu147=)
11g.17594118A>CCA473302584OTOGc.3396A>C (p.Leu1132=)
c.3360A>C (p.Leu1120=)
c.441A>C (p.Leu147=)
gnomAD v4
11g.17594118A>GCA5905728OTOGc.3396A>G (p.Leu1132=)
c.3360A>G (p.Leu1120=)
c.441A>G (p.Leu147=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594118A>TCA473302582OTOGc.3396A>T (p.Leu1132=)
c.3360A>T (p.Leu1120=)
c.441A>T (p.Leu147=)
11g.17594119G>ACA379783970OTOGc.3397G>A (p.Glu1133Lys)
c.3361G>A (p.Glu1121Lys)
c.442G>A (p.Glu148Lys)
ClinVar dbSNP
11g.17594119G>CCA379783972OTOGc.3397G>C (p.Glu1133Gln)
c.3361G>C (p.Glu1121Gln)
c.442G>C (p.Glu148Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17594119G=CA1955217142OTOGc.3397G= (p.Glu1133=)
c.3361G= (p.Glu1121=)
c.442G= (p.Glu148=)
11g.17594119G>TCA379783973OTOGc.3397G>T (p.Glu1133Ter)
c.3361G>T (p.Glu1121Ter)
c.442G>T (p.Glu148Ter)
11g.17594120A>CCA379783976OTOGc.3398A>C (p.Glu1133Ala)
c.3362A>C (p.Glu1121Ala)
c.443A>C (p.Glu148Ala)
11g.17594120A>GCA379783978OTOGc.3398A>G (p.Glu1133Gly)
c.3362A>G (p.Glu1121Gly)
c.443A>G (p.Glu148Gly)
11g.17594120A>TCA379783981OTOGc.3398A>T (p.Glu1133Val)
c.3362A>T (p.Glu1121Val)
c.443A>T (p.Glu148Val)
11g.17594121G>ACA473302585OTOGc.3399G>A (p.Glu1133=)
c.3363G>A (p.Glu1121=)
c.444G>A (p.Glu148=)
11g.17594121G>CCA379783986OTOGc.3399G>C (p.Glu1133Asp)
c.3363G>C (p.Glu1121Asp)
c.444G>C (p.Glu148Asp)
11g.17594121G=CA1955217143OTOGc.3399G= (p.Glu1133=)
c.3363G= (p.Glu1121=)
c.444G= (p.Glu148=)
11g.17594121G>TCA379783984OTOGc.3399G>T (p.Glu1133Asp)
c.3363G>T (p.Glu1121Asp)
c.444G>T (p.Glu148Asp)
dbSNP
11g.17594122C>ACA379783987OTOGc.3400C>A (p.Leu1134Ile)
c.3364C>A (p.Leu1122Ile)
c.445C>A (p.Leu149Ile)
gnomAD v4
11g.17594122C>GCA379783990OTOGc.3400C>G (p.Leu1134Val)
c.3364C>G (p.Leu1122Val)
c.445C>G (p.Leu149Val)
11g.17594122C>TCA473302586OTOGc.3400C>T (p.Leu1134=)
c.3364C>T (p.Leu1122=)
c.445C>T (p.Leu149=)
11g.17594123T>ACA379783991OTOGc.3401T>A (p.Leu1134Gln)
c.3365T>A (p.Leu1122Gln)
c.446T>A (p.Leu149Gln)
11g.17594123T>CCA379783992OTOGc.3401T>C (p.Leu1134Pro)
c.3365T>C (p.Leu1122Pro)
c.446T>C (p.Leu149Pro)
11g.17594123T>GCA379783993OTOGc.3401T>G (p.Leu1134Arg)
c.3365T>G (p.Leu1122Arg)
c.446T>G (p.Leu149Arg)
11g.17594124A=CA1955217144OTOGc.3402A= (p.Leu1134=)
c.3366A= (p.Leu1122=)
c.447A= (p.Leu149=)
11g.17594124A>CCA473302590OTOGc.3402A>C (p.Leu1134=)
c.3366A>C (p.Leu1122=)
c.447A>C (p.Leu149=)
11g.17594124A>GCA473302591OTOGc.3402A>G (p.Leu1134=)
c.3366A>G (p.Leu1122=)
c.447A>G (p.Leu149=)
dbSNP gnomAD v2 gnomAD v4
11g.17594124A>TCA473302592OTOGc.3402A>T (p.Leu1134=)
c.3366A>T (p.Leu1122=)
c.447A>T (p.Leu149=)
11g.17594125A>CCA379783994OTOGc.3403A>C (p.Thr1135Pro)
c.3367A>C (p.Thr1123Pro)
c.448A>C (p.Thr150Pro)
11g.17594125A>GCA379783995OTOGc.3403A>G (p.Thr1135Ala)
c.3367A>G (p.Thr1123Ala)
c.448A>G (p.Thr150Ala)
11g.17594125A>TCA379783997OTOGc.3403A>T (p.Thr1135Ser)
c.3367A>T (p.Thr1123Ser)
c.448A>T (p.Thr150Ser)
11g.17594126C>ACA379783999OTOGc.3404C>A (p.Thr1135Asn)
c.3368C>A (p.Thr1123Asn)
c.449C>A (p.Thr150Asn)
dbSNP gnomAD v2 gnomAD v4
11g.17594126C=CA1955217145OTOGc.3404C= (p.Thr1135=)
c.3368C= (p.Thr1123=)
c.449C= (p.Thr150=)
11g.17594126C>GCA379784000OTOGc.3404C>G (p.Thr1135Ser)
c.3368C>G (p.Thr1123Ser)
c.449C>G (p.Thr150Ser)
11g.17594126C>TCA379784001OTOGc.3404C>T (p.Thr1135Ile)
c.3368C>T (p.Thr1123Ile)
c.449C>T (p.Thr150Ile)
gnomAD v4
11g.17594127T>ACA473302596OTOGc.3405T>A (p.Thr1135=)
c.3369T>A (p.Thr1123=)
c.450T>A (p.Thr150=)
gnomAD v4
11g.17594127T>CCA473302597OTOGc.3405T>C (p.Thr1135=)
c.3369T>C (p.Thr1123=)
c.450T>C (p.Thr150=)
11g.17594127T>GCA473302598OTOGc.3405T>G (p.Thr1135=)
c.3369T>G (p.Thr1123=)
c.450T>G (p.Thr150=)
11g.17594128A>CCA379784003OTOGc.3406A>C (p.Asn1136His)
c.3370A>C (p.Asn1124His)
c.451A>C (p.Asn151His)
11g.17594128A>GCA379784006OTOGc.3406A>G (p.Asn1136Asp)
c.3370A>G (p.Asn1124Asp)
c.451A>G (p.Asn151Asp)
11g.17594128A>TCA379784007OTOGc.3406A>T (p.Asn1136Tyr)
c.3370A>T (p.Asn1124Tyr)
c.451A>T (p.Asn151Tyr)
11g.17594129A>CCA379784013OTOGc.3407A>C (p.Asn1136Thr)
c.3371A>C (p.Asn1124Thr)
c.452A>C (p.Asn151Thr)
11g.17594129A>GCA379784015OTOGc.3407A>G (p.Asn1136Ser)
c.3371A>G (p.Asn1124Ser)
c.452A>G (p.Asn151Ser)
gnomAD v4
11g.17594129A>TCA379784010OTOGc.3407A>T (p.Asn1136Ile)
c.3371A>T (p.Asn1124Ile)
c.452A>T (p.Asn151Ile)
11g.17594129_17594130delinsACCA1955217146OTOGc.3407_3408delinsAC (p.Asn1136=)
c.3371_3372delinsAC (p.Asn1124=)
c.452_453delinsAC (p.Asn151=)
11g.17594130C>ACA218460490OTOGc.3408C>A (p.Asn1136Lys)
c.3372C>A (p.Asn1124Lys)
c.453C>A (p.Asn151Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17594130C=CA1955217147OTOGc.3408C= (p.Asn1136=)
c.3372C= (p.Asn1124=)
c.453C= (p.Asn151=)
11g.17594130C>GCA379784020OTOGc.3408C>G (p.Asn1136Lys)
c.3372C>G (p.Asn1124Lys)
c.453C>G (p.Asn151Lys)
gnomAD v4
11g.17594130C>TCA473302604OTOGc.3408C>T (p.Asn1136=)
c.3372C>T (p.Asn1124=)
c.453C>T (p.Asn151=)
gnomAD v4
11g.17594134delCA597670081OTOGc.3412del (p.Gln1138ArgfsTer24)
c.3376del (p.Gln1126ArgfsTer24)
c.457del (p.Gln153ArgfsTer24)
dbSNP gnomAD v2 gnomAD v4
11g.17594131C>ACA379784026OTOGc.3409C>A (p.Pro1137Thr)
c.3373C>A (p.Pro1125Thr)
c.454C>A (p.Pro152Thr)
11g.17594131C=CA1955217148OTOGc.3409C= (p.Pro1137=)
c.3373C= (p.Pro1125=)
c.454C= (p.Pro152=)
11g.17594131C>GCA379784031OTOGc.3409C>G (p.Pro1137Ala)
c.3373C>G (p.Pro1125Ala)
c.454C>G (p.Pro152Ala)
dbSNP gnomAD v2 gnomAD v4
11g.17594131C>TCA379784029OTOGc.3409C>T (p.Pro1137Ser)
c.3373C>T (p.Pro1125Ser)
c.454C>T (p.Pro152Ser)
11g.17594132C>ACA379784034OTOGc.3410C>A (p.Pro1137His)
c.3374C>A (p.Pro1125His)
c.455C>A (p.Pro152His)
dbSNP gnomAD v2
11g.17594132C=CA1955217149OTOGc.3410C= (p.Pro1137=)
c.3374C= (p.Pro1125=)
c.455C= (p.Pro152=)
11g.17594132C>GCA379784037OTOGc.3410C>G (p.Pro1137Arg)
c.3374C>G (p.Pro1125Arg)
c.455C>G (p.Pro152Arg)
11g.17594132C>TCA379784039OTOGc.3410C>T (p.Pro1137Leu)
c.3374C>T (p.Pro1125Leu)
c.455C>T (p.Pro152Leu)
11g.17594133C>ACA473302608OTOGc.3411C>A (p.Pro1137=)
c.3375C>A (p.Pro1125=)
c.456C>A (p.Pro152=)
11g.17594133C>GCA473302609OTOGc.3411C>G (p.Pro1137=)
c.3375C>G (p.Pro1125=)
c.456C>G (p.Pro152=)
11g.17594133C>TCA473302610OTOGc.3411C>T (p.Pro1137=)
c.3375C>T (p.Pro1125=)
c.456C>T (p.Pro152=)
11g.17594134C>ACA379784042OTOGc.3412C>A (p.Gln1138Lys)
c.3376C>A (p.Gln1126Lys)
c.457C>A (p.Gln153Lys)
dbSNP gnomAD v2 gnomAD v4
11g.17594134C=CA1955217150OTOGc.3412C= (p.Gln1138=)
c.3376C= (p.Gln1126=)
c.457C= (p.Gln153=)
11g.17594134C>GCA379784045OTOGc.3412C>G (p.Gln1138Glu)
c.3376C>G (p.Gln1126Glu)
c.457C>G (p.Gln153Glu)
11g.17594134C>TCA379784048OTOGc.3412C>T (p.Gln1138Ter)
c.3376C>T (p.Gln1126Ter)
c.457C>T (p.Gln153Ter)
11g.17594135A>CCA379784051OTOGc.3413A>C (p.Gln1138Pro)
c.3377A>C (p.Gln1126Pro)
c.458A>C (p.Gln153Pro)
11g.17594135A>GCA379784054OTOGc.3413A>G (p.Gln1138Arg)
c.3377A>G (p.Gln1126Arg)
c.458A>G (p.Gln153Arg)
11g.17594135A>TCA379784055OTOGc.3413A>T (p.Gln1138Leu)
c.3377A>T (p.Gln1126Leu)
c.458A>T (p.Gln153Leu)
11g.17594136G>ACA473302614OTOGc.3414G>A (p.Gln1138=)
c.3378G>A (p.Gln1126=)
c.459G>A (p.Gln153=)
dbSNP gnomAD v4
11g.17594136G>CCA379784058OTOGc.3414G>C (p.Gln1138His)
c.3378G>C (p.Gln1126His)
c.459G>C (p.Gln153His)
11g.17594136G=CA1955217151OTOGc.3414G= (p.Gln1138=)
c.3378G= (p.Gln1126=)
c.459G= (p.Gln153=)
11g.17594136G>TCA379784060OTOGc.3414G>T (p.Gln1138His)
c.3378G>T (p.Gln1126His)
c.459G>T (p.Gln153His)
11g.17594137G>ACA379784072OTOGc.3415G>A (p.Glu1139Lys)
c.3379G>A (p.Glu1127Lys)
c.460G>A (p.Glu154Lys)
gnomAD v4 COSMIC
11g.17594137G>CCA379784064OTOGc.3415G>C (p.Glu1139Gln)
c.3379G>C (p.Glu1127Gln)
c.460G>C (p.Glu154Gln)
dbSNP gnomAD v3 gnomAD v4
11g.17594137G=CA1955217152OTOGc.3415G= (p.Glu1139=)
c.3379G= (p.Glu1127=)
c.460G= (p.Glu154=)
11g.17594137G>TCA379784067OTOGc.3415G>T (p.Glu1139Ter)
c.3379G>T (p.Glu1127Ter)
c.460G>T (p.Glu154Ter)
gnomAD v4
11g.17594138A>CCA379784076OTOGc.3416A>C (p.Glu1139Ala)
c.3380A>C (p.Glu1127Ala)
c.461A>C (p.Glu154Ala)
11g.17594138A>GCA379784080OTOGc.3416A>G (p.Glu1139Gly)
c.3380A>G (p.Glu1127Gly)
c.461A>G (p.Glu154Gly)
11g.17594138A>TCA379784082OTOGc.3416A>T (p.Glu1139Val)
c.3380A>T (p.Glu1127Val)
c.461A>T (p.Glu154Val)
11g.17594139G>ACA473302619OTOGc.3417G>A (p.Glu1139=)
c.3381G>A (p.Glu1127=)
c.462G>A (p.Glu154=)
dbSNP gnomAD v3 gnomAD v4
11g.17594139G>CCA379784085OTOGc.3417G>C (p.Glu1139Asp)
c.3381G>C (p.Glu1127Asp)
c.462G>C (p.Glu154Asp)
11g.17594139G=CA1955217153OTOGc.3417G= (p.Glu1139=)
c.3381G= (p.Glu1127=)
c.462G= (p.Glu154=)
11g.17594139G>TCA379784089OTOGc.3417G>T (p.Glu1139Asp)
c.3381G>T (p.Glu1127Asp)
c.462G>T (p.Glu154Asp)
11g.17594140T>ACA379784093OTOGc.3418T>A (p.Phe1140Ile)
c.3382T>A (p.Phe1128Ile)
c.463T>A (p.Phe155Ile)
11g.17594140T>CCA379784095OTOGc.3418T>C (p.Phe1140Leu)
c.3382T>C (p.Phe1128Leu)
c.463T>C (p.Phe155Leu)
gnomAD v4
11g.17594140T>GCA379784097OTOGc.3418T>G (p.Phe1140Val)
c.3382T>G (p.Phe1128Val)
c.463T>G (p.Phe155Val)
11g.17594141T>ACA379784103OTOGc.3419T>A (p.Phe1140Tyr)
c.3383T>A (p.Phe1128Tyr)
c.464T>A (p.Phe155Tyr)
11g.17594141T>CCA379784105OTOGc.3419T>C (p.Phe1140Ser)
c.3383T>C (p.Phe1128Ser)
c.464T>C (p.Phe155Ser)
gnomAD v4
11g.17594141T>GCA379784107OTOGc.3419T>G (p.Phe1140Cys)
c.3383T>G (p.Phe1128Cys)
c.464T>G (p.Phe155Cys)
dbSNP gnomAD v4
11g.17594141T=CA1955217154OTOGc.3419T= (p.Phe1140=)
c.3383T= (p.Phe1128=)
c.464T= (p.Phe155=)
11g.17594142T>ACA379784111OTOGc.3420T>A (p.Phe1140Leu)
c.3384T>A (p.Phe1128Leu)
c.465T>A (p.Phe155Leu)
gnomAD v4
11g.17594142T>CCA473302621OTOGc.3420T>C (p.Phe1140=)
c.3384T>C (p.Phe1128=)
c.465T>C (p.Phe155=)
11g.17594142T>GCA379784109OTOGc.3420T>G (p.Phe1140Leu)
c.3384T>G (p.Phe1128Leu)
c.465T>G (p.Phe155Leu)
11g.17594142_17594143delinsTGCA1955217155OTOGc.3420_3421delinsTG (p.Phe1140=)
c.3384_3385delinsTG (p.Phe1128=)
c.465_466delinsTG (p.Phe155=)
11g.17594143G>ACA379784114OTOGc.3421G>A (p.Gly1141Ser)
c.3385G>A (p.Gly1129Ser)
c.466G>A (p.Gly156Ser)
dbSNP gnomAD v2
11g.17594143G>CCA379784117OTOGc.3421G>C (p.Gly1141Arg)
c.3385G>C (p.Gly1129Arg)
c.466G>C (p.Gly156Arg)
dbSNP gnomAD v2 gnomAD v4
11g.17594143G=CA1955217156OTOGc.3421G= (p.Gly1141=)
c.3385G= (p.Gly1129=)
c.466G= (p.Gly156=)
11g.17594143G>TCA379784121OTOGc.3421G>T (p.Gly1141Cys)
c.3385G>T (p.Gly1129Cys)
c.466G>T (p.Gly156Cys)
11g.17594144delCA218460494OTOGc.3422del (p.Gly1141AlafsTer21)
c.3386del (p.Gly1129AlafsTer21)
c.467del (p.Gly156AlafsTer21)
dbSNP
11g.17594144G>ACA379784124OTOGc.3422G>A (p.Gly1141Asp)
c.3386G>A (p.Gly1129Asp)
c.467G>A (p.Gly156Asp)
11g.17594144G>CCA379784125OTOGc.3422G>C (p.Gly1141Ala)
c.3386G>C (p.Gly1129Ala)
c.467G>C (p.Gly156Ala)
11g.17594144G>TCA379784127OTOGc.3422G>T (p.Gly1141Val)
c.3386G>T (p.Gly1129Val)
c.467G>T (p.Gly156Val)
11g.17594145C>ACA473302626OTOGc.3423C>A (p.Gly1141=)
c.3387C>A (p.Gly1129=)
c.468C>A (p.Gly156=)
gnomAD v4 COSMIC
11g.17594145C>GCA473302628OTOGc.3423C>G (p.Gly1141=)
c.3387C>G (p.Gly1129=)
c.468C>G (p.Gly156=)
11g.17594145C>TCA473302627OTOGc.3423C>T (p.Gly1141=)
c.3387C>T (p.Gly1129=)
c.468C>T (p.Gly156=)
11g.17594146A>CCA379784136OTOGc.3424A>C (p.Ser1142Arg)
c.3388A>C (p.Ser1130Arg)
c.469A>C (p.Ser157Arg)
11g.17594146A>GCA379784131OTOGc.3424A>G (p.Ser1142Gly)
c.3388A>G (p.Ser1130Gly)
c.469A>G (p.Ser157Gly)
11g.17594146A>TCA379784133OTOGc.3424A>T (p.Ser1142Cys)
c.3388A>T (p.Ser1130Cys)
c.469A>T (p.Ser157Cys)
COSMIC
11g.17594147G>ACA379784138OTOGc.3425G>A (p.Ser1142Asn)
c.3389G>A (p.Ser1130Asn)
c.470G>A (p.Ser157Asn)
dbSNP
11g.17594147G>CCA379784139OTOGc.3425G>C (p.Ser1142Thr)
c.3389G>C (p.Ser1130Thr)
c.470G>C (p.Ser157Thr)
dbSNP gnomAD v3 gnomAD v4
11g.17594147G=CA1955217157OTOGc.3425G= (p.Ser1142=)
c.3389G= (p.Ser1130=)
c.470G= (p.Ser157=)
11g.17594147G>TCA379784142OTOGc.3425G>T (p.Ser1142Ile)
c.3389G>T (p.Ser1130Ile)
c.470G>T (p.Ser157Ile)
11g.17594148C>ACA5905729OTOGc.3426C>A (p.Ser1142Arg)
c.3390C>A (p.Ser1130Arg)
c.471C>A (p.Ser157Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17594148C=CA1955217158OTOGc.3426C= (p.Ser1142=)
c.3390C= (p.Ser1130=)
c.471C= (p.Ser157=)
11g.17594148C>GCA379784148OTOGc.3426C>G (p.Ser1142Arg)
c.3390C>G (p.Ser1130Arg)
c.471C>G (p.Ser157Arg)
11g.17594148C>TCA473302632OTOGc.3426C>T (p.Ser1142=)
c.3390C>T (p.Ser1130=)
c.471C>T (p.Ser157=)

Number of alleles fetched