Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17638444C>ACA2612691266OTOGc.7832-7C>A (n.7832-7C>A)
c.7796-7C>A (n.7796-7C>A)
c.4424-7C>A (n.4424-7C>A)
 gnomAD v4
11g.17638444C=CA1955238515OTOGc.7832-7C= (n.7832-7C=)
c.7796-7C= (n.7796-7C=)
c.4424-7C= (n.4424-7C=)
11g.17638444C>TCA218454554OTOGc.7832-7C>T (n.7832-7C>T)
c.7796-7C>T (n.7796-7C>T)
c.4424-7C>T (n.4424-7C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.17638445C>ACA2612691270OTOGc.7832-6C>A (n.7832-6C>A)
c.7796-6C>A (n.7796-6C>A)
c.4424-6C>A (n.4424-6C>A)
 gnomAD v4
11g.17638445C>TCA2612691269OTOGc.7832-6C>T (n.7832-6C>T)
c.7796-6C>T (n.7796-6C>T)
c.4424-6C>T (n.4424-6C>T)
 gnomAD v4
11g.17638445_17638447delinsCCACA1955238516OTOGc.7832-6_7832-4delinsCCA (n.7832-6_7832-4delinsCCA)
c.7796-6_7796-4delinsCCA (n.7796-6_7796-4delinsCCA)
c.4424-6_4424-4delinsCCA (n.4424-6_4424-4delinsCCA)
11g.17638446C>ACA2612691271OTOGc.7832-5C>A (n.7832-5C>A)
c.7796-5C>A (n.7796-5C>A)
c.4424-5C>A (n.4424-5C>A)
 gnomAD v4
11g.17638448_17638449delCA218454563OTOGc.7832-3_7832-2del (n.7832-3_7832-2del)
c.7796-3_7796-2del (n.7796-3_7796-2del)
c.4424-3_4424-2del (n.4424-3_4424-2del)
 dbSNP
11g.17638447A>TCA2612691272OTOGc.7832-4A>T (n.7832-4A>T)
c.7796-4A>T (n.7796-4A>T)
c.4424-4A>T (n.4424-4A>T)
 gnomAD v4
11g.17638448C>ACA2612691274OTOGc.7832-3C>A (n.7832-3C>A)
c.7796-3C>A (n.7796-3C>A)
c.4424-3C>A (n.4424-3C>A)
 gnomAD v4
11g.17638448C>TCA2612691275OTOGc.7832-3C>T (n.7832-3C>T)
c.7796-3C>T (n.7796-3C>T)
c.4424-3C>T (n.4424-3C>T)
 gnomAD v4
11g.17638449A=CA1955238517OTOGc.7832-2A= (n.7832-2A=)
c.7796-2A= (n.7796-2A=)
c.4424-2A= (n.4424-2A=)
11g.17638449A>CCA379780488OTOGc.7832-2A>C (n.7832-2A>C)
c.7796-2A>C (n.7796-2A>C)
c.4424-2A>C (n.4424-2A>C)
11g.17638449A>GCA379780489OTOGc.7832-2A>G (n.7832-2A>G)
c.7796-2A>G (n.7796-2A>G)
c.4424-2A>G (n.4424-2A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.17638449A>TCA379780490OTOGc.7832-2A>T (n.7832-2A>T)
c.7796-2A>T (n.7796-2A>T)
c.4424-2A>T (n.4424-2A>T)
11g.17638450G>ACA379780492OTOGc.7832-1G>A (n.7832-1G>A)
c.7796-1G>A (n.7796-1G>A)
c.4424-1G>A (n.4424-1G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.17638450G>CCA379780496OTOGc.7832-1G>C (n.7832-1G>C)
c.7796-1G>C (n.7796-1G>C)
c.4424-1G>C (n.4424-1G>C)
11g.17638450G=CA1955238518OTOGc.7832-1G= (n.7832-1G=)
c.7796-1G= (n.7796-1G=)
c.4424-1G= (n.4424-1G=)
11g.17638450G>TCA379780500OTOGc.7832-1G>T (n.7832-1G>T)
c.7796-1G>T (n.7796-1G>T)
c.4424-1G>T (n.4424-1G>T)
 gnomAD v4
11g.17638451T>ACA379780513OTOGc.7832T>A (p.Val2611Glu)
c.7796T>A (p.Val2599Glu)
c.4424T>A (p.Val1475Glu)
 gnomAD v4
11g.17638451T>CCA379780520OTOGc.7832T>C (p.Val2611Ala)
c.7796T>C (p.Val2599Ala)
c.4424T>C (p.Val1475Ala)
 ClinVar dbSNP gnomAD v4
11g.17638451T>GCA379780519OTOGc.7832T>G (p.Val2611Gly)
c.7796T>G (p.Val2599Gly)
c.4424T>G (p.Val1475Gly)
 dbSNP gnomAD v4
11g.17638451T=CA1955238519OTOGc.7832T= (p.Val2611=)
c.7796T= (p.Val2599=)
c.4424T= (p.Val1475=)
11g.17638452G>ACA473298943OTOGc.7833G>A (p.Val2611=)
c.7797G>A (p.Val2599=)
c.4425G>A (p.Val1475=)
11g.17638452G>CCA473298942OTOGc.7833G>C (p.Val2611=)
c.7797G>C (p.Val2599=)
c.4425G>C (p.Val1475=)
11g.17638452G=CA1955238520OTOGc.7833G= (p.Val2611=)
c.7797G= (p.Val2599=)
c.4425G= (p.Val1475=)
11g.17638452G>TCA473298941OTOGc.7833G>T (p.Val2611=)
c.7797G>T (p.Val2599=)
c.4425G>T (p.Val1475=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638453T>ACA379780522OTOGc.7834T>A (p.Cys2612Ser)
c.7798T>A (p.Cys2600Ser)
c.4426T>A (p.Cys1476Ser)
11g.17638453T>CCA379780524OTOGc.7834T>C (p.Cys2612Arg)
c.7798T>C (p.Cys2600Arg)
c.4426T>C (p.Cys1476Arg)
11g.17638453T>GCA379780526OTOGc.7834T>G (p.Cys2612Gly)
c.7798T>G (p.Cys2600Gly)
c.4426T>G (p.Cys1476Gly)
11g.17638454G>ACA379780528OTOGc.7835G>A (p.Cys2612Tyr)
c.7799G>A (p.Cys2600Tyr)
c.4427G>A (p.Cys1476Tyr)
11g.17638454G>CCA379780544OTOGc.7835G>C (p.Cys2612Ser)
c.7799G>C (p.Cys2600Ser)
c.4427G>C (p.Cys1476Ser)
11g.17638454G=CA1955238521OTOGc.7835G= (p.Cys2612=)
c.7799G= (p.Cys2600=)
c.4427G= (p.Cys1476=)
11g.17638454G>TCA379780547OTOGc.7835G>T (p.Cys2612Phe)
c.7799G>T (p.Cys2600Phe)
c.4427G>T (p.Cys1476Phe)
 dbSNP gnomAD v2
11g.17638455T>ACA379780552OTOGc.7836T>A (p.Cys2612Ter)
c.7800T>A (p.Cys2600Ter)
c.4428T>A (p.Cys1476Ter)
11g.17638455T>CCA473298944OTOGc.7836T>C (p.Cys2612=)
c.7800T>C (p.Cys2600=)
c.4428T>C (p.Cys1476=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638455T>GCA379780558OTOGc.7836T>G (p.Cys2612Trp)
c.7800T>G (p.Cys2600Trp)
c.4428T>G (p.Cys1476Trp)
 gnomAD v4
11g.17638455T=CA1955238522OTOGc.7836T= (p.Cys2612=)
c.7800T= (p.Cys2600=)
c.4428T= (p.Cys1476=)
11g.17638456G>ACA379780560OTOGc.7837G>A (p.Glu2613Lys)
c.7801G>A (p.Glu2601Lys)
c.4429G>A (p.Glu1477Lys)
 gnomAD v4
11g.17638456G>CCA379780561OTOGc.7837G>C (p.Glu2613Gln)
c.7801G>C (p.Glu2601Gln)
c.4429G>C (p.Glu1477Gln)
11g.17638456G>TCA379780567OTOGc.7837G>T (p.Glu2613Ter)
c.7801G>T (p.Glu2601Ter)
c.4429G>T (p.Glu1477Ter)
 gnomAD v4
11g.17638457A>CCA379780574OTOGc.7838A>C (p.Glu2613Ala)
c.7802A>C (p.Glu2601Ala)
c.4430A>C (p.Glu1477Ala)
11g.17638457A>GCA379780578OTOGc.7838A>G (p.Glu2613Gly)
c.7802A>G (p.Glu2601Gly)
c.4430A>G (p.Glu1477Gly)
11g.17638457A>TCA379780576OTOGc.7838A>T (p.Glu2613Val)
c.7802A>T (p.Glu2601Val)
c.4430A>T (p.Glu1477Val)
11g.17638458G>ACA473298945OTOGc.7839G>A (p.Glu2613=)
c.7803G>A (p.Glu2601=)
c.4431G>A (p.Glu1477=)
11g.17638458G>CCA379780581OTOGc.7839G>C (p.Glu2613Asp)
c.7803G>C (p.Glu2601Asp)
c.4431G>C (p.Glu1477Asp)
11g.17638458G>TCA379780582OTOGc.7839G>T (p.Glu2613Asp)
c.7803G>T (p.Glu2601Asp)
c.4431G>T (p.Glu1477Asp)
 gnomAD v4
11g.17638459A>CCA379780588OTOGc.7840A>C (p.Asn2614His)
c.7804A>C (p.Asn2602His)
c.4432A>C (p.Asn1478His)
11g.17638459A>GCA379780594OTOGc.7840A>G (p.Asn2614Asp)
c.7804A>G (p.Asn2602Asp)
c.4432A>G (p.Asn1478Asp)
11g.17638459A>TCA379780601OTOGc.7840A>T (p.Asn2614Tyr)
c.7804A>T (p.Asn2602Tyr)
c.4432A>T (p.Asn1478Tyr)
11g.17638460A=CA1955238523OTOGc.7841A= (p.Asn2614=)
c.7805A= (p.Asn2602=)
c.4433A= (p.Asn1478=)
11g.17638460A>CCA379780611OTOGc.7841A>C (p.Asn2614Thr)
c.7805A>C (p.Asn2602Thr)
c.4433A>C (p.Asn1478Thr)
 dbSNP
11g.17638460A>GCA379780613OTOGc.7841A>G (p.Asn2614Ser)
c.7805A>G (p.Asn2602Ser)
c.4433A>G (p.Asn1478Ser)
11g.17638460A>TCA379780614OTOGc.7841A>T (p.Asn2614Ile)
c.7805A>T (p.Asn2602Ile)
c.4433A>T (p.Asn1478Ile)
 gnomAD v4
11g.17638461C>ACA379780617OTOGc.7842C>A (p.Asn2614Lys)
c.7806C>A (p.Asn2602Lys)
c.4434C>A (p.Asn1478Lys)
 dbSNP
11g.17638461C=CA1955238524OTOGc.7842C= (p.Asn2614=)
c.7806C= (p.Asn2602=)
c.4434C= (p.Asn1478=)
11g.17638461C>GCA379780619OTOGc.7842C>G (p.Asn2614Lys)
c.7806C>G (p.Asn2602Lys)
c.4434C>G (p.Asn1478Lys)
11g.17638461C>TCA473298946OTOGc.7842C>T (p.Asn2614=)
c.7806C>T (p.Asn2602=)
c.4434C>T (p.Asn1478=)
 dbSNP gnomAD v4
11g.17638462T>ACA379780620OTOGc.7843T>A (p.Phe2615Ile)
c.7807T>A (p.Phe2603Ile)
c.4435T>A (p.Phe1479Ile)
11g.17638462T>CCA379780621OTOGc.7843T>C (p.Phe2615Leu)
c.7807T>C (p.Phe2603Leu)
c.4435T>C (p.Phe1479Leu)
11g.17638462T>GCA379780623OTOGc.7843T>G (p.Phe2615Val)
c.7807T>G (p.Phe2603Val)
c.4435T>G (p.Phe1479Val)
11g.17638463T>ACA379780627OTOGc.7844T>A (p.Phe2615Tyr)
c.7808T>A (p.Phe2603Tyr)
c.4436T>A (p.Phe1479Tyr)
11g.17638463T>CCA379780636OTOGc.7844T>C (p.Phe2615Ser)
c.7808T>C (p.Phe2603Ser)
c.4436T>C (p.Phe1479Ser)
11g.17638463T>GCA379780631OTOGc.7844T>G (p.Phe2615Cys)
c.7808T>G (p.Phe2603Cys)
c.4436T>G (p.Phe1479Cys)
11g.17638464C>ACA379780639OTOGc.7845C>A (p.Phe2615Leu)
c.7809C>A (p.Phe2603Leu)
c.4437C>A (p.Phe1479Leu)
 gnomAD v4
11g.17638464C=CA1955238525OTOGc.7845C= (p.Phe2615=)
c.7809C= (p.Phe2603=)
c.4437C= (p.Phe1479=)
11g.17638464C>GCA379780642OTOGc.7845C>G (p.Phe2615Leu)
c.7809C>G (p.Phe2603Leu)
c.4437C>G (p.Phe1479Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17638464C>TCA473298947OTOGc.7845C>T (p.Phe2615=)
c.7809C>T (p.Phe2603=)
c.4437C>T (p.Phe1479=)
11g.17638465C>ACA379780647OTOGc.7846C>A (p.Arg2616Ser)
c.7810C>A (p.Arg2604Ser)
c.4438C>A (p.Arg1480Ser)
 gnomAD v4
11g.17638465C=CA1955238526OTOGc.7846C= (p.Arg2616=)
c.7810C= (p.Arg2604=)
c.4438C= (p.Arg1480=)
11g.17638465C>GCA379780653OTOGc.7846C>G (p.Arg2616Gly)
c.7810C>G (p.Arg2604Gly)
c.4438C>G (p.Arg1480Gly)
11g.17638465C>TCA10576874OTOGc.7846C>T (p.Arg2616Cys)
c.7810C>T (p.Arg2604Cys)
c.4438C>T (p.Arg1480Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17638466G>ACA218454572OTOGc.7847G>A (p.Arg2616His)
c.7811G>A (p.Arg2604His)
c.4439G>A (p.Arg1480His)
 dbSNP gnomAD v2 gnomAD v4
11g.17638466G>CCA379780680OTOGc.7847G>C (p.Arg2616Pro)
c.7811G>C (p.Arg2604Pro)
c.4439G>C (p.Arg1480Pro)
 gnomAD v4
11g.17638466G=CA1955238527OTOGc.7847G= (p.Arg2616=)
c.7811G= (p.Arg2604=)
c.4439G= (p.Arg1480=)
11g.17638466G>TCA379780681OTOGc.7847G>T (p.Arg2616Leu)
c.7811G>T (p.Arg2604Leu)
c.4439G>T (p.Arg1480Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638467C>ACA473298949OTOGc.7848C>A (p.Arg2616=)
c.7812C>A (p.Arg2604=)
c.4440C>A (p.Arg1480=)
 gnomAD v4
11g.17638467C=CA1955238528OTOGc.7848C= (p.Arg2616=)
c.7812C= (p.Arg2604=)
c.4440C= (p.Arg1480=)
11g.17638467C>GCA473298948OTOGc.7848C>G (p.Arg2616=)
c.7812C>G (p.Arg2604=)
c.4440C>G (p.Arg1480=)
 gnomAD v4
11g.17638467C>TCA218454582OTOGc.7848C>T (p.Arg2616=)
c.7812C>T (p.Arg2604=)
c.4440C>T (p.Arg1480=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638468T>ACA379780682OTOGc.7849T>A (p.Cys2617Ser)
c.7813T>A (p.Cys2605Ser)
c.4441T>A (p.Cys1481Ser)
11g.17638468T>CCA379780686OTOGc.7849T>C (p.Cys2617Arg)
c.7813T>C (p.Cys2605Arg)
c.4441T>C (p.Cys1481Arg)
11g.17638468T>GCA379780708OTOGc.7849T>G (p.Cys2617Gly)
c.7813T>G (p.Cys2605Gly)
c.4441T>G (p.Cys1481Gly)
11g.17638469G>ACA379780710OTOGc.7850G>A (p.Cys2617Tyr)
c.7814G>A (p.Cys2605Tyr)
c.4442G>A (p.Cys1481Tyr)
11g.17638469G>CCA379780714OTOGc.7850G>C (p.Cys2617Ser)
c.7814G>C (p.Cys2605Ser)
c.4442G>C (p.Cys1481Ser)
11g.17638469G>TCA379780709OTOGc.7850G>T (p.Cys2617Phe)
c.7814G>T (p.Cys2605Phe)
c.4442G>T (p.Cys1481Phe)
11g.17638470T>ACA379780722OTOGc.7851T>A (p.Cys2617Ter)
c.7815T>A (p.Cys2605Ter)
c.4443T>A (p.Cys1481Ter)
11g.17638470T>CCA473298950OTOGc.7851T>C (p.Cys2617=)
c.7815T>C (p.Cys2605=)
c.4443T>C (p.Cys1481=)
 gnomAD v4
11g.17638470T>GCA379780721OTOGc.7851T>G (p.Cys2617Trp)
c.7815T>G (p.Cys2605Trp)
c.4443T>G (p.Cys1481Trp)
11g.17638471C>ACA379780725OTOGc.7852C>A (p.Pro2618Thr)
c.7816C>A (p.Pro2606Thr)
c.4444C>A (p.Pro1482Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.17638471C=CA1955238529OTOGc.7852C= (p.Pro2618=)
c.7816C= (p.Pro2606=)
c.4444C= (p.Pro1482=)
11g.17638471C>GCA379780723OTOGc.7852C>G (p.Pro2618Ala)
c.7816C>G (p.Pro2606Ala)
c.4444C>G (p.Pro1482Ala)
11g.17638471C>TCA379780724OTOGc.7852C>T (p.Pro2618Ser)
c.7816C>T (p.Pro2606Ser)
c.4444C>T (p.Pro1482Ser)
11g.17638474delCA2840347304OTOGc.7855del (p.Gln2619LysfsTer?)
c.7819del (p.Gln2607LysfsTer?)
c.4447del (p.Gln1483LysfsTer?)
11g.17638472C>ACA379780729OTOGc.7853C>A (p.Pro2618His)
c.7817C>A (p.Pro2606His)
c.4445C>A (p.Pro1482His)
 dbSNP gnomAD v3 gnomAD v4
11g.17638472C=CA1955238530OTOGc.7853C= (p.Pro2618=)
c.7817C= (p.Pro2606=)
c.4445C= (p.Pro1482=)
11g.17638472C>GCA379780730OTOGc.7853C>G (p.Pro2618Arg)
c.7817C>G (p.Pro2606Arg)
c.4445C>G (p.Pro1482Arg)
11g.17638472C>TCA379780731OTOGc.7853C>T (p.Pro2618Leu)
c.7817C>T (p.Pro2606Leu)
c.4445C>T (p.Pro1482Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.17638473C>ACA473298951OTOGc.7854C>A (p.Pro2618=)
c.7818C>A (p.Pro2606=)
c.4446C>A (p.Pro1482=)
 gnomAD v4
11g.17638473C=CA1955238531OTOGc.7854C= (p.Pro2618=)
c.7818C= (p.Pro2606=)
c.4446C= (p.Pro1482=)
11g.17638473C>GCA473298953OTOGc.7854C>G (p.Pro2618=)
c.7818C>G (p.Pro2606=)
c.4446C>G (p.Pro1482=)
 dbSNP gnomAD v2 gnomAD v4
11g.17638473C>TCA473298952OTOGc.7854C>T (p.Pro2618=)
c.7818C>T (p.Pro2606=)
c.4446C>T (p.Pro1482=)
 gnomAD v4
11g.17638474C>ACA379780732OTOGc.7855C>A (p.Gln2619Lys)
c.7819C>A (p.Gln2607Lys)
c.4447C>A (p.Gln1483Lys)
11g.17638474C>GCA379780748OTOGc.7855C>G (p.Gln2619Glu)
c.7819C>G (p.Gln2607Glu)
c.4447C>G (p.Gln1483Glu)
11g.17638474C>TCA379780755OTOGc.7855C>T (p.Gln2619Ter)
c.7819C>T (p.Gln2607Ter)
c.4447C>T (p.Gln1483Ter)
11g.17638476_17638481delCA2612691345OTOGc.7857_7862del (p.Val2620_Gln2621del)
c.7821_7826del (p.Val2608_Gln2609del)
c.4449_4454del (p.Val1484_Gln1485del)
 gnomAD v4
11g.17638475A>CCA379780758OTOGc.7856A>C (p.Gln2619Pro)
c.7820A>C (p.Gln2607Pro)
c.4448A>C (p.Gln1483Pro)
11g.17638475A>GCA379780759OTOGc.7856A>G (p.Gln2619Arg)
c.7820A>G (p.Gln2607Arg)
c.4448A>G (p.Gln1483Arg)
11g.17638475A>TCA379780761OTOGc.7856A>T (p.Gln2619Leu)
c.7820A>T (p.Gln2607Leu)
c.4448A>T (p.Gln1483Leu)
11g.17638476A=CA1955238532OTOGc.7857A= (p.Gln2619=)
c.7821A= (p.Gln2607=)
c.4449A= (p.Gln1483=)
11g.17638476A>CCA379780769OTOGc.7857A>C (p.Gln2619His)
c.7821A>C (p.Gln2607His)
c.4449A>C (p.Gln1483His)
11g.17638476A>GCA473298954OTOGc.7857A>G (p.Gln2619=)
c.7821A>G (p.Gln2607=)
c.4449A>G (p.Gln1483=)
 dbSNP gnomAD v4
11g.17638476A>TCA379780771OTOGc.7857A>T (p.Gln2619His)
c.7821A>T (p.Gln2607His)
c.4449A>T (p.Gln1483His)
11g.17638477G>ACA379780790OTOGc.7858G>A (p.Val2620Met)
c.7822G>A (p.Val2608Met)
c.4450G>A (p.Val1484Met)
 gnomAD v4
11g.17638477G>CCA379780781OTOGc.7858G>C (p.Val2620Leu)
c.7822G>C (p.Val2608Leu)
c.4450G>C (p.Val1484Leu)
11g.17638477G>TCA379780786OTOGc.7858G>T (p.Val2620Leu)
c.7822G>T (p.Val2608Leu)
c.4450G>T (p.Val1484Leu)
 gnomAD v4
11g.17638478T>ACA379780795OTOGc.7859T>A (p.Val2620Glu)
c.7823T>A (p.Val2608Glu)
c.4451T>A (p.Val1484Glu)
11g.17638478T>CCA379780799OTOGc.7859T>C (p.Val2620Ala)
c.7823T>C (p.Val2608Ala)
c.4451T>C (p.Val1484Ala)
11g.17638478T>GCA379780804OTOGc.7859T>G (p.Val2620Gly)
c.7823T>G (p.Val2608Gly)
c.4451T>G (p.Val1484Gly)
11g.17638479G>ACA218454585OTOGc.7860G>A (p.Val2620=)
c.7824G>A (p.Val2608=)
c.4452G>A (p.Val1484=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638479G>CCA473298958OTOGc.7860G>C (p.Val2620=)
c.7824G>C (p.Val2608=)
c.4452G>C (p.Val1484=)
11g.17638479G=CA1955238533OTOGc.7860G= (p.Val2620=)
c.7824G= (p.Val2608=)
c.4452G= (p.Val1484=)
11g.17638479G>TCA473298959OTOGc.7860G>T (p.Val2620=)
c.7824G>T (p.Val2608=)
c.4452G>T (p.Val1484=)
11g.17638480C>ACA5906180OTOGc.7861C>A (p.Gln2621Lys)
c.7825C>A (p.Gln2609Lys)
c.4453C>A (p.Gln1485Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17638480C=CA1955238534OTOGc.7861C= (p.Gln2621=)
c.7825C= (p.Gln2609=)
c.4453C= (p.Gln1485=)
11g.17638480C>GCA379780819OTOGc.7861C>G (p.Gln2621Glu)
c.7825C>G (p.Gln2609Glu)
c.4453C>G (p.Gln1485Glu)
11g.17638480C>TCA379780821OTOGc.7861C>T (p.Gln2621Ter)
c.7825C>T (p.Gln2609Ter)
c.4453C>T (p.Gln1485Ter)
11g.17638481A=CA1955238535OTOGc.7862A= (p.Gln2621=)
c.7826A= (p.Gln2609=)
c.4454A= (p.Gln1485=)
11g.17638481A>CCA379780822OTOGc.7862A>C (p.Gln2621Pro)
c.7826A>C (p.Gln2609Pro)
c.4454A>C (p.Gln1485Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638481A>GCA379780823OTOGc.7862A>G (p.Gln2621Arg)
c.7826A>G (p.Gln2609Arg)
c.4454A>G (p.Gln1485Arg)
11g.17638481A>TCA218454606OTOGc.7862A>T (p.Gln2621Leu)
c.7826A>T (p.Gln2609Leu)
c.4454A>T (p.Gln1485Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638482G>ACA473298965OTOGc.7863G>A (p.Gln2621=)
c.7827G>A (p.Gln2609=)
c.4455G>A (p.Gln1485=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638482G>CCA379780827OTOGc.7863G>C (p.Gln2621His)
c.7827G>C (p.Gln2609His)
c.4455G>C (p.Gln1485His)
11g.17638482G=CA1955238536OTOGc.7863G= (p.Gln2621=)
c.7827G= (p.Gln2609=)
c.4455G= (p.Gln1485=)
11g.17638482G>TCA379780828OTOGc.7863G>T (p.Gln2621His)
c.7827G>T (p.Gln2609His)
c.4455G>T (p.Gln1485His)
 gnomAD v4
11g.17638483T>ACA379780834OTOGc.7864T>A (p.Cys2622Ser)
c.7828T>A (p.Cys2610Ser)
c.4456T>A (p.Cys1486Ser)
11g.17638483T>CCA379780831OTOGc.7864T>C (p.Cys2622Arg)
c.7828T>C (p.Cys2610Arg)
c.4456T>C (p.Cys1486Arg)
11g.17638483T>GCA379780829OTOGc.7864T>G (p.Cys2622Gly)
c.7828T>G (p.Cys2610Gly)
c.4456T>G (p.Cys1486Gly)
11g.17638484G>ACA379780835OTOGc.7865G>A (p.Cys2622Tyr)
c.7829G>A (p.Cys2610Tyr)
c.4457G>A (p.Cys1486Tyr)
11g.17638484G>CCA379780836OTOGc.7865G>C (p.Cys2622Ser)
c.7829G>C (p.Cys2610Ser)
c.4457G>C (p.Cys1486Ser)
11g.17638484G>TCA379780838OTOGc.7865G>T (p.Cys2622Phe)
c.7829G>T (p.Cys2610Phe)
c.4457G>T (p.Cys1486Phe)
11g.17638485T>ACA379780840OTOGc.7866T>A (p.Cys2622Ter)
c.7830T>A (p.Cys2610Ter)
c.4458T>A (p.Cys1486Ter)
11g.17638485T>CCA473298970OTOGc.7866T>C (p.Cys2622=)
c.7830T>C (p.Cys2610=)
c.4458T>C (p.Cys1486=)
11g.17638485T>GCA379780842OTOGc.7866T>G (p.Cys2622Trp)
c.7830T>G (p.Cys2610Trp)
c.4458T>G (p.Cys1486Trp)
11g.17638486G>ACA379780848OTOGc.7867G>A (p.Gly2623Ser)
c.7831G>A (p.Gly2611Ser)
c.4459G>A (p.Gly1487Ser)
11g.17638486G>CCA379780852OTOGc.7867G>C (p.Gly2623Arg)
c.7831G>C (p.Gly2611Arg)
c.4459G>C (p.Gly1487Arg)
11g.17638486G>TCA379780853OTOGc.7867G>T (p.Gly2623Cys)
c.7831G>T (p.Gly2611Cys)
c.4459G>T (p.Gly1487Cys)
11g.17638487G>ACA379780854OTOGc.7868G>A (p.Gly2623Asp)
c.7832G>A (p.Gly2611Asp)
c.4460G>A (p.Gly1487Asp)
 gnomAD v4
11g.17638487G>CCA379780857OTOGc.7868G>C (p.Gly2623Ala)
c.7832G>C (p.Gly2611Ala)
c.4460G>C (p.Gly1487Ala)
 dbSNP
11g.17638487G=CA1955238537OTOGc.7868G= (p.Gly2623=)
c.7832G= (p.Gly2611=)
c.4460G= (p.Gly1487=)
11g.17638487G>TCA379780860OTOGc.7868G>T (p.Gly2623Val)
c.7832G>T (p.Gly2611Val)
c.4460G>T (p.Gly1487Val)
 gnomAD v4
11g.17638488C>ACA473298973OTOGc.7869C>A (p.Gly2623=)
c.7833C>A (p.Gly2611=)
c.4461C>A (p.Gly1487=)
 gnomAD v4
11g.17638488C=CA1955238538OTOGc.7869C= (p.Gly2623=)
c.7833C= (p.Gly2611=)
c.4461C= (p.Gly1487=)
11g.17638488C>GCA473298975OTOGc.7869C>G (p.Gly2623=)
c.7833C>G (p.Gly2611=)
c.4461C>G (p.Gly1487=)
11g.17638488C>TCA473298972OTOGc.7869C>T (p.Gly2623=)
c.7833C>T (p.Gly2611=)
c.4461C>T (p.Gly1487=)
 dbSNP gnomAD v2 gnomAD v4
11g.17638489C>ACA379780867OTOGc.7870C>A (p.Leu2624Met)
c.7834C>A (p.Leu2612Met)
c.4462C>A (p.Leu1488Met)
11g.17638489C>GCA379780872OTOGc.7870C>G (p.Leu2624Val)
c.7834C>G (p.Leu2612Val)
c.4462C>G (p.Leu1488Val)
11g.17638489C>TCA473298976OTOGc.7870C>T (p.Leu2624=)
c.7834C>T (p.Leu2612=)
c.4462C>T (p.Leu1488=)
11g.17638490T>ACA379780886OTOGc.7871T>A (p.Leu2624Gln)
c.7835T>A (p.Leu2612Gln)
c.4463T>A (p.Leu1488Gln)
11g.17638490T>CCA379780879OTOGc.7871T>C (p.Leu2624Pro)
c.7835T>C (p.Leu2612Pro)
c.4463T>C (p.Leu1488Pro)
 dbSNP gnomAD v4
11g.17638490T>GCA379780884OTOGc.7871T>G (p.Leu2624Arg)
c.7835T>G (p.Leu2612Arg)
c.4463T>G (p.Leu1488Arg)
11g.17638490T=CA1955238539OTOGc.7871T= (p.Leu2624=)
c.7835T= (p.Leu2612=)
c.4463T= (p.Leu1488=)
11g.17638491G>ACA473298979OTOGc.7872G>A (p.Leu2624=)
c.7836G>A (p.Leu2612=)
c.4464G>A (p.Leu1488=)
11g.17638491G>CCA473298981OTOGc.7872G>C (p.Leu2624=)
c.7836G>C (p.Leu2612=)
c.4464G>C (p.Leu1488=)
11g.17638491G>TCA473298980OTOGc.7872G>T (p.Leu2624=)
c.7836G>T (p.Leu2612=)
c.4464G>T (p.Leu1488=)
11g.17638492G>ACA379780889OTOGc.7873G>A (p.Gly2625Ser)
c.7837G>A (p.Gly2613Ser)
c.4465G>A (p.Gly1489Ser)
11g.17638492G>CCA379780890OTOGc.7873G>C (p.Gly2625Arg)
c.7837G>C (p.Gly2613Arg)
c.4465G>C (p.Gly1489Arg)
11g.17638492G>TCA379780893OTOGc.7873G>T (p.Gly2625Cys)
c.7837G>T (p.Gly2613Cys)
c.4465G>T (p.Gly1489Cys)
11g.17638493G>ACA379780894OTOGc.7874G>A (p.Gly2625Asp)
c.7838G>A (p.Gly2613Asp)
c.4466G>A (p.Gly1489Asp)
 gnomAD v4
11g.17638493G>CCA379780898OTOGc.7874G>C (p.Gly2625Ala)
c.7838G>C (p.Gly2613Ala)
c.4466G>C (p.Gly1489Ala)
11g.17638493G>TCA379780900OTOGc.7874G>T (p.Gly2625Val)
c.7838G>T (p.Gly2613Val)
c.4466G>T (p.Gly1489Val)
11g.17638494C>ACA473298985OTOGc.7875C>A (p.Gly2625=)
c.7839C>A (p.Gly2613=)
c.4467C>A (p.Gly1489=)
11g.17638494C>GCA473298988OTOGc.7875C>G (p.Gly2625=)
c.7839C>G (p.Gly2613=)
c.4467C>G (p.Gly1489=)
11g.17638494C>TCA473298990OTOGc.7875C>T (p.Gly2625=)
c.7839C>T (p.Gly2613=)
c.4467C>T (p.Gly1489=)
11g.17638495A>CCA379780904OTOGc.7876A>C (p.Thr2626Pro)
c.7840A>C (p.Thr2614Pro)
c.4468A>C (p.Thr1490Pro)
11g.17638495A>GCA379780905OTOGc.7876A>G (p.Thr2626Ala)
c.7840A>G (p.Thr2614Ala)
c.4468A>G (p.Thr1490Ala)
11g.17638495A>TCA379780909OTOGc.7876A>T (p.Thr2626Ser)
c.7840A>T (p.Thr2614Ser)
c.4468A>T (p.Thr1490Ser)
11g.17638496C>ACA379780915OTOGc.7877C>A (p.Thr2626Asn)
c.7841C>A (p.Thr2614Asn)
c.4469C>A (p.Thr1490Asn)
11g.17638496C>GCA379780925OTOGc.7877C>G (p.Thr2626Ser)
c.7841C>G (p.Thr2614Ser)
c.4469C>G (p.Thr1490Ser)
11g.17638496C>TCA379780927OTOGc.7877C>T (p.Thr2626Ile)
c.7841C>T (p.Thr2614Ile)
c.4469C>T (p.Thr1490Ile)
11g.17638497T>ACA473298994OTOGc.7878T>A (p.Thr2626=)
c.7842T>A (p.Thr2614=)
c.4470T>A (p.Thr1490=)
11g.17638497T>CCA473298995OTOGc.7878T>C (p.Thr2626=)
c.7842T>C (p.Thr2614=)
c.4470T>C (p.Thr1490=)
 dbSNP gnomAD v3 gnomAD v4
11g.17638497T>GCA473298997OTOGc.7878T>G (p.Thr2626=)
c.7842T>G (p.Thr2614=)
c.4470T>G (p.Thr1490=)
11g.17638497T=CA1955238540OTOGc.7878T= (p.Thr2626=)
c.7842T= (p.Thr2614=)
c.4470T= (p.Thr1490=)
11g.17638498G>ACA379780948OTOGc.7879G>A (p.Ala2627Thr)
c.7843G>A (p.Ala2615Thr)
c.4471G>A (p.Ala1491Thr)
11g.17638498G>CCA379780945OTOGc.7879G>C (p.Ala2627Pro)
c.7843G>C (p.Ala2615Pro)
c.4471G>C (p.Ala1491Pro)
11g.17638498G>TCA379780939OTOGc.7879G>T (p.Ala2627Ser)
c.7843G>T (p.Ala2615Ser)
c.4471G>T (p.Ala1491Ser)
11g.17638499C>ACA379780949OTOGc.7880C>A (p.Ala2627Asp)
c.7844C>A (p.Ala2615Asp)
c.4472C>A (p.Ala1491Asp)
 gnomAD v4
11g.17638499C=CA1955238541OTOGc.7880C= (p.Ala2627=)
c.7844C= (p.Ala2615=)
c.4472C= (p.Ala1491=)
11g.17638499C>GCA379780952OTOGc.7880C>G (p.Ala2627Gly)
c.7844C>G (p.Ala2615Gly)
c.4472C>G (p.Ala1491Gly)
11g.17638499C>TCA379780950OTOGc.7880C>T (p.Ala2627Val)
c.7844C>T (p.Ala2615Val)
c.4472C>T (p.Ala1491Val)
 dbSNP gnomAD v4
11g.17638501dupCA2840347305OTOGc.7882dup (p.Leu2628ProfsTer17)
c.7846dup (p.Leu2616ProfsTer17)
c.4474dup (p.Leu1492ProfsTer?)
11g.17638500C>ACA473299002OTOGc.7881C>A (p.Ala2627=)
c.7845C>A (p.Ala2615=)
c.4473C>A (p.Ala1491=)
11g.17638500C>GCA473299001OTOGc.7881C>G (p.Ala2627=)
c.7845C>G (p.Ala2615=)
c.4473C>G (p.Ala1491=)
11g.17638500C>TCA473299000OTOGc.7881C>T (p.Ala2627=)
c.7845C>T (p.Ala2615=)
c.4473C>T (p.Ala1491=)
11g.17638501C>ACA379780956OTOGc.7882C>A (p.Leu2628Met)
c.7846C>A (p.Leu2616Met)
c.4474C>A (p.Leu1492Met)
 gnomAD v4
11g.17638501C=CA1955238542OTOGc.7882C= (p.Leu2628=)
c.7846C= (p.Leu2616=)
c.4474C= (p.Leu1492=)
11g.17638501C>GCA379780958OTOGc.7882C>G (p.Leu2628Val)
c.7846C>G (p.Leu2616Val)
c.4474C>G (p.Leu1492Val)
11g.17638501C>TCA10576875OTOGc.7882C>T (p.Leu2628=)
c.7846C>T (p.Leu2616=)
c.4474C>T (p.Leu1492=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638502T>ACA379780961OTOGc.7883T>A (p.Leu2628Gln)
c.7847T>A (p.Leu2616Gln)
c.4475T>A (p.Leu1492Gln)
11g.17638502T>CCA379780964OTOGc.7883T>C (p.Leu2628Pro)
c.7847T>C (p.Leu2616Pro)
c.4475T>C (p.Leu1492Pro)
 ClinVar dbSNP
11g.17638502T>GCA379780967OTOGc.7883T>G (p.Leu2628Arg)
c.7847T>G (p.Leu2616Arg)
c.4475T>G (p.Leu1492Arg)
11g.17638502T=CA1955238543OTOGc.7883T= (p.Leu2628=)
c.7847T= (p.Leu2616=)
c.4475T= (p.Leu1492=)
11g.17638503G>ACA218454621OTOGc.7884G>A (p.Leu2628=)
c.7848G>A (p.Leu2616=)
c.4476G>A (p.Leu1492=)
 dbSNP
11g.17638503G>CCA473299009OTOGc.7884G>C (p.Leu2628=)
c.7848G>C (p.Leu2616=)
c.4476G>C (p.Leu1492=)
11g.17638503G=CA1955238544OTOGc.7884G= (p.Leu2628=)
c.7848G= (p.Leu2616=)
c.4476G= (p.Leu1492=)
11g.17638503G>TCA218454619OTOGc.7884G>T (p.Leu2628=)
c.7848G>T (p.Leu2616=)
c.4476G>T (p.Leu1492=)
 dbSNP gnomAD v3 gnomAD v4
11g.17638504G>ACA379780972OTOGc.7885G>A (p.Val2629Met)
c.7849G>A (p.Val2617Met)
c.4477G>A (p.Val1493Met)
11g.17638504G>CCA379780975OTOGc.7885G>C (p.Val2629Leu)
c.7849G>C (p.Val2617Leu)
c.4477G>C (p.Val1493Leu)
11g.17638504G>TCA379780983OTOGc.7885G>T (p.Val2629Leu)
c.7849G>T (p.Val2617Leu)
c.4477G>T (p.Val1493Leu)
 gnomAD v4
11g.17638505T>ACA379780987OTOGc.7886T>A (p.Val2629Glu)
c.7850T>A (p.Val2617Glu)
c.4478T>A (p.Val1493Glu)
11g.17638505T>CCA379780989OTOGc.7886T>C (p.Val2629Ala)
c.7850T>C (p.Val2617Ala)
c.4478T>C (p.Val1493Ala)
11g.17638505T>GCA379780992OTOGc.7886T>G (p.Val2629Gly)
c.7850T>G (p.Val2617Gly)
c.4478T>G (p.Val1493Gly)
11g.17638506G>ACA473299011OTOGc.7887G>A (p.Val2629=)
c.7851G>A (p.Val2617=)
c.4479G>A (p.Val1493=)
11g.17638506G>CCA473299013OTOGc.7887G>C (p.Val2629=)
c.7851G>C (p.Val2617=)
c.4479G>C (p.Val1493=)
11g.17638506G>TCA473299014OTOGc.7887G>T (p.Val2629=)
c.7851G>T (p.Val2617=)
c.4479G>T (p.Val1493=)
11g.17638507delCA2790598557OTOGc.7888del (p.Glu2630ArgfsTer?)
c.7852del (p.Glu2618ArgfsTer?)
c.4480del (p.Glu1494ArgfsTer?)
11g.17638507G>ACA379781001OTOGc.7888G>A (p.Glu2630Lys)
c.7852G>A (p.Glu2618Lys)
c.4480G>A (p.Glu1494Lys)
 gnomAD v4
11g.17638507G>CCA379780997OTOGc.7888G>C (p.Glu2630Gln)
c.7852G>C (p.Glu2618Gln)
c.4480G>C (p.Glu1494Gln)
11g.17638507G>TCA379780999OTOGc.7888G>T (p.Glu2630Ter)
c.7852G>T (p.Glu2618Ter)
c.4480G>T (p.Glu1494Ter)
 gnomAD v4
11g.17638508A=CA1955238545OTOGc.7889A= (p.Glu2630=)
c.7853A= (p.Glu2618=)
c.4481A= (p.Glu1494=)
11g.17638508A>CCA379781003OTOGc.7889A>C (p.Glu2630Ala)
c.7853A>C (p.Glu2618Ala)
c.4481A>C (p.Glu1494Ala)
11g.17638508A>GCA379781006OTOGc.7889A>G (p.Glu2630Gly)
c.7853A>G (p.Glu2618Gly)
c.4481A>G (p.Glu1494Gly)
11g.17638508A>TCA379781008OTOGc.7889A>T (p.Glu2630Val)
c.7853A>T (p.Glu2618Val)
c.4481A>T (p.Glu1494Val)
 dbSNP gnomAD v3 gnomAD v4
11g.17638509G>ACA473299016OTOGc.7890G>A (p.Glu2630=)
c.7854G>A (p.Glu2618=)
c.4482G>A (p.Glu1494=)
 dbSNP gnomAD v2 gnomAD v4
11g.17638509G>CCA379781011OTOGc.7890G>C (p.Glu2630Asp)
c.7854G>C (p.Glu2618Asp)
c.4482G>C (p.Glu1494Asp)
11g.17638509G=CA1955238546OTOGc.7890G= (p.Glu2630=)
c.7854G= (p.Glu2618=)
c.4482G= (p.Glu1494=)
11g.17638509G>TCA379781013OTOGc.7890G>T (p.Glu2630Asp)
c.7854G>T (p.Glu2618Asp)
c.4482G>T (p.Glu1494Asp)
 dbSNP
11g.17638510G>ACA379781015OTOGc.7891G>A (p.Val2631Met)
c.7855G>A (p.Val2619Met)
c.4483G>A (p.Val1495Met)
11g.17638510G>CCA379781017OTOGc.7891G>C (p.Val2631Leu)
c.7855G>C (p.Val2619Leu)
c.4483G>C (p.Val1495Leu)
11g.17638510G=CA1955238547OTOGc.7891G= (p.Val2631=)
c.7855G= (p.Val2619=)
c.4483G= (p.Val1495=)
11g.17638510G>TCA379781022OTOGc.7891G>T (p.Val2631Leu)
c.7855G>T (p.Val2619Leu)
c.4483G>T (p.Val1495Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.17638511T>ACA379781027OTOGc.7892T>A (p.Val2631Glu)
c.7856T>A (p.Val2619Glu)
c.4484T>A (p.Val1495Glu)
11g.17638511T>CCA379781040OTOGc.7892T>C (p.Val2631Ala)
c.7856T>C (p.Val2619Ala)
c.4484T>C (p.Val1495Ala)
11g.17638511T>GCA379781053OTOGc.7892T>G (p.Val2631Gly)
c.7856T>G (p.Val2619Gly)
c.4484T>G (p.Val1495Gly)
11g.17638512G>ACA473299020OTOGc.7893G>A (p.Val2631=)
c.7857G>A (p.Val2619=)
c.4485G>A (p.Val1495=)
11g.17638512G>CCA473299021OTOGc.7893G>C (p.Val2631=)
c.7857G>C (p.Val2619=)
c.4485G>C (p.Val1495=)
11g.17638512G>TCA473299022OTOGc.7893G>T (p.Val2631=)
c.7857G>T (p.Val2619=)
c.4485G>T (p.Val1495=)
 gnomAD v4
11g.17638513T>ACA379781064OTOGc.7894T>A (p.Trp2632Arg)
c.7858T>A (p.Trp2620Arg)
c.4486T>A (p.Trp1496Arg)
11g.17638513T>CCA379781061OTOGc.7894T>C (p.Trp2632Arg)
c.7858T>C (p.Trp2620Arg)
c.4486T>C (p.Trp1496Arg)
11g.17638513T>GCA379781057OTOGc.7894T>G (p.Trp2632Gly)
c.7858T>G (p.Trp2620Gly)
c.4486T>G (p.Trp1496Gly)
11g.17638514G>ACA218454623OTOGc.7895G>A (p.Trp2632Ter)
c.7859G>A (p.Trp2620Ter)
c.4487G>A (p.Trp1496Ter)
 dbSNP
11g.17638514G>CCA379781077OTOGc.7895G>C (p.Trp2632Ser)
c.7859G>C (p.Trp2620Ser)
c.4487G>C (p.Trp1496Ser)
11g.17638514G=CA1955238548OTOGc.7895G= (p.Trp2632=)
c.7859G= (p.Trp2620=)
c.4487G= (p.Trp1496=)
11g.17638514G>TCA379781078OTOGc.7895G>T (p.Trp2632Leu)
c.7859G>T (p.Trp2620Leu)
c.4487G>T (p.Trp1496Leu)
11g.17638515G>ACA379781079OTOGc.7896G>A (p.Trp2632Ter)
c.7860G>A (p.Trp2620Ter)
c.4488G>A (p.Trp1496Ter)
 ClinVar dbSNP gnomAD v4
11g.17638515G>CCA379781080OTOGc.7896G>C (p.Trp2632Cys)
c.7860G>C (p.Trp2620Cys)
c.4488G>C (p.Trp1496Cys)
11g.17638515G=CA1955238549OTOGc.7896G= (p.Trp2632=)
c.7860G= (p.Trp2620=)
c.4488G= (p.Trp1496=)
11g.17638515G>TCA379781083OTOGc.7896G>T (p.Trp2632Cys)
c.7860G>T (p.Trp2620Cys)
c.4488G>T (p.Trp1496Cys)
 dbSNP
11g.17638516A>CCA379781104OTOGc.7897A>C (p.Ser2633Arg)
c.7861A>C (p.Ser2621Arg)
c.4489A>C (p.Ser1497Arg)
11g.17638516A>GCA379781086OTOGc.7897A>G (p.Ser2633Gly)
c.7861A>G (p.Ser2621Gly)
c.4489A>G (p.Ser1497Gly)
 gnomAD v4
11g.17638516A>TCA379781092OTOGc.7897A>T (p.Ser2633Cys)
c.7861A>T (p.Ser2621Cys)
c.4489A>T (p.Ser1497Cys)
11g.17638517G>ACA379781110OTOGc.7898G>A (p.Ser2633Asn)
c.7862G>A (p.Ser2621Asn)
c.4490G>A (p.Ser1497Asn)
 dbSNP gnomAD v2
11g.17638517G>CCA379781125OTOGc.7898G>C (p.Ser2633Thr)
c.7862G>C (p.Ser2621Thr)
c.4490G>C (p.Ser1497Thr)
 gnomAD v4
11g.17638517G=CA1955238550OTOGc.7898G= (p.Ser2633=)
c.7862G= (p.Ser2621=)
c.4490G= (p.Ser1497=)
11g.17638517G>TCA379781129OTOGc.7898G>T (p.Ser2633Ile)
c.7862G>T (p.Ser2621Ile)
c.4490G>T (p.Ser1497Ile)
 gnomAD v4
11g.17638518C>ACA379781141OTOGc.7899C>A (p.Ser2633Arg)
c.7863C>A (p.Ser2621Arg)
c.4491C>A (p.Ser1497Arg)
 gnomAD v4
11g.17638518C=CA1955238551OTOGc.7899C= (p.Ser2633=)
c.7863C= (p.Ser2621=)
c.4491C= (p.Ser1497=)
11g.17638518C>GCA379781146OTOGc.7899C>G (p.Ser2633Arg)
c.7863C>G (p.Ser2621Arg)
c.4491C>G (p.Ser1497Arg)
 gnomAD v4
11g.17638518C>TCA473299028OTOGc.7899C>T (p.Ser2633=)
c.7863C>T (p.Ser2621=)
c.4491C>T (p.Ser1497=)
 dbSNP gnomAD v2 gnomAD v4
11g.17638519C>ACA379781150OTOGc.7900C>A (p.Pro2634Thr)
c.7864C>A (p.Pro2622Thr)
c.4492C>A (p.Pro1498Thr)
11g.17638519C>GCA379781156OTOGc.7900C>G (p.Pro2634Ala)
c.7864C>G (p.Pro2622Ala)
c.4492C>G (p.Pro1498Ala)
11g.17638519C>TCA379781154OTOGc.7900C>T (p.Pro2634Ser)
c.7864C>T (p.Pro2622Ser)
c.4492C>T (p.Pro1498Ser)
 gnomAD v4
11g.17638520C>ACA379781162OTOGc.7901C>A (p.Pro2634His)
c.7865C>A (p.Pro2622His)
c.4493C>A (p.Pro1498His)
11g.17638520C>GCA379781165OTOGc.7901C>G (p.Pro2634Arg)
c.7865C>G (p.Pro2622Arg)
c.4493C>G (p.Pro1498Arg)
11g.17638520C>TCA379781167OTOGc.7901C>T (p.Pro2634Leu)
c.7865C>T (p.Pro2622Leu)
c.4493C>T (p.Pro1498Leu)
11g.17638521C>ACA473299031OTOGc.7902C>A (p.Pro2634=)
c.7866C>A (p.Pro2622=)
c.4494C>A (p.Pro1498=)
 dbSNP
11g.17638521C=CA1955238552OTOGc.7902C= (p.Pro2634=)
c.7866C= (p.Pro2622=)
c.4494C= (p.Pro1498=)
11g.17638521C>GCA473299034OTOGc.7902C>G (p.Pro2634=)
c.7866C>G (p.Pro2622=)
c.4494C>G (p.Pro1498=)
11g.17638521C>TCA5906181OTOGc.7902C>T (p.Pro2634=)
c.7866C>T (p.Pro2622=)
c.4494C>T (p.Pro1498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17638522G>ACA249343OTOGc.7903G>A (p.Asp2635Asn)
c.7867G>A (p.Asp2623Asn)
c.4495G>A (p.Asp1499Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17638522G>CCA379781187OTOGc.7903G>C (p.Asp2635His)
c.7867G>C (p.Asp2623His)
c.4495G>C (p.Asp1499His)
11g.17638522G=CA1955238553OTOGc.7903G= (p.Asp2635=)
c.7867G= (p.Asp2623=)
c.4495G= (p.Asp1499=)
11g.17638522G>TCA379781191OTOGc.7903G>T (p.Asp2635Tyr)
c.7867G>T (p.Asp2623Tyr)
c.4495G>T (p.Asp1499Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.17638523A=CA1955238554OTOGc.7904A= (p.Asp2635=)
c.7868A= (p.Asp2623=)
c.4496A= (p.Asp1499=)
11g.17638523A>CCA379781196OTOGc.7904A>C (p.Asp2635Ala)
c.7868A>C (p.Asp2623Ala)
c.4496A>C (p.Asp1499Ala)
 dbSNP
11g.17638523A>GCA379781205OTOGc.7904A>G (p.Asp2635Gly)
c.7868A>G (p.Asp2623Gly)
c.4496A>G (p.Asp1499Gly)
11g.17638523A>TCA379781208OTOGc.7904A>T (p.Asp2635Val)
c.7868A>T (p.Asp2623Val)
c.4496A>T (p.Asp1499Val)
11g.17638524C>ACA218454636OTOGc.7905C>A (p.Asp2635Glu)
c.7869C>A (p.Asp2623Glu)
c.4497C>A (p.Asp1499Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638524C=CA1955238555OTOGc.7905C= (p.Asp2635=)
c.7869C= (p.Asp2623=)
c.4497C= (p.Asp1499=)
11g.17638524C>GCA379781223OTOGc.7905C>G (p.Asp2635Glu)
c.7869C>G (p.Asp2623Glu)
c.4497C>G (p.Asp1499Glu)
11g.17638524C>TCA218454656OTOGc.7905C>T (p.Asp2635=)
c.7869C>T (p.Asp2623=)
c.4497C>T (p.Asp1499=)
 dbSNP gnomAD v4
11g.17638525C>ACA379781234OTOGc.7906C>A (p.Arg2636Ser)
c.7870C>A (p.Arg2624Ser)
c.4498C>A (p.Arg1500Ser)
11g.17638525C=CA1955238556OTOGc.7906C= (p.Arg2636=)
c.7870C= (p.Arg2624=)
c.4498C= (p.Arg1500=)
11g.17638525C>GCA379781239OTOGc.7906C>G (p.Arg2636Gly)
c.7870C>G (p.Arg2624Gly)
c.4498C>G (p.Arg1500Gly)
11g.17638525C>TCA379781230OTOGc.7906C>T (p.Arg2636Cys)
c.7870C>T (p.Arg2624Cys)
c.4498C>T (p.Arg1500Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638526G>ACA218454661OTOGc.7907G>A (p.Arg2636His)
c.7871G>A (p.Arg2624His)
c.4499G>A (p.Arg1500His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638526G>CCA379781251OTOGc.7907G>C (p.Arg2636Pro)
c.7871G>C (p.Arg2624Pro)
c.4499G>C (p.Arg1500Pro)
 ClinVar dbSNP gnomAD v4
11g.17638526G=CA1955238557OTOGc.7907G= (p.Arg2636=)
c.7871G= (p.Arg2624=)
c.4499G= (p.Arg1500=)
11g.17638526G>TCA379781246OTOGc.7907G>T (p.Arg2636Leu)
c.7871G>T (p.Arg2624Leu)
c.4499G>T (p.Arg1500Leu)
 gnomAD v4
11g.17638531_17638533delCA2612691544OTOGc.7912_7914del (p.Cys2638del)
c.7876_7878del (p.Cys2626del)
c.4504_4506del (p.Cys1502del)
 gnomAD v4
11g.17638527C>ACA473299037OTOGc.7908C>A (p.Arg2636=)
c.7872C>A (p.Arg2624=)
c.4500C>A (p.Arg1500=)
 gnomAD v4
11g.17638527C>GCA473299038OTOGc.7908C>G (p.Arg2636=)
c.7872C>G (p.Arg2624=)
c.4500C>G (p.Arg1500=)
11g.17638527C>TCA473299039OTOGc.7908C>T (p.Arg2636=)
c.7872C>T (p.Arg2624=)
c.4500C>T (p.Arg1500=)
11g.17638528T>ACA379781258OTOGc.7909T>A (p.Cys2637Ser)
c.7873T>A (p.Cys2625Ser)
c.4501T>A (p.Cys1501Ser)
 gnomAD v4
11g.17638528T>CCA379781274OTOGc.7909T>C (p.Cys2637Arg)
c.7873T>C (p.Cys2625Arg)
c.4501T>C (p.Cys1501Arg)
11g.17638528T>GCA379781263OTOGc.7909T>G (p.Cys2637Gly)
c.7873T>G (p.Cys2625Gly)
c.4501T>G (p.Cys1501Gly)
11g.17638529G>ACA379781278OTOGc.7910G>A (p.Cys2637Tyr)
c.7874G>A (p.Cys2625Tyr)
c.4502G>A (p.Cys1501Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.17638529G>CCA379781285OTOGc.7910G>C (p.Cys2637Ser)
c.7874G>C (p.Cys2625Ser)
c.4502G>C (p.Cys1501Ser)
11g.17638529G=CA1955238558OTOGc.7910G= (p.Cys2637=)
c.7874G= (p.Cys2625=)
c.4502G= (p.Cys1501=)
11g.17638529G>TCA379781280OTOGc.7910G>T (p.Cys2637Phe)
c.7874G>T (p.Cys2625Phe)
c.4502G>T (p.Cys1501Phe)
 dbSNP
11g.17638530C>ACA379781288OTOGc.7911C>A (p.Cys2637Ter)
c.7875C>A (p.Cys2625Ter)
c.4503C>A (p.Cys1501Ter)
11g.17638530C>GCA379781292OTOGc.7911C>G (p.Cys2637Trp)
c.7875C>G (p.Cys2625Trp)
c.4503C>G (p.Cys1501Trp)
11g.17638530C>TCA473299044OTOGc.7911C>T (p.Cys2637=)
c.7875C>T (p.Cys2625=)
c.4503C>T (p.Cys1501=)
 gnomAD v4
11g.17638531T>ACA379781298OTOGc.7912T>A (p.Cys2638Ser)
c.7876T>A (p.Cys2626Ser)
c.4504T>A (p.Cys1502Ser)
 gnomAD v4
11g.17638531T>CCA379781306OTOGc.7912T>C (p.Cys2638Arg)
c.7876T>C (p.Cys2626Arg)
c.4504T>C (p.Cys1502Arg)
11g.17638531T>GCA379781301OTOGc.7912T>G (p.Cys2638Gly)
c.7876T>G (p.Cys2626Gly)
c.4504T>G (p.Cys1502Gly)
11g.17638532G>ACA379781310OTOGc.7913G>A (p.Cys2638Tyr)
c.7877G>A (p.Cys2626Tyr)
c.4505G>A (p.Cys1502Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638532G>CCA379781315OTOGc.7913G>C (p.Cys2638Ser)
c.7877G>C (p.Cys2626Ser)
c.4505G>C (p.Cys1502Ser)
11g.17638532G=CA1955238559OTOGc.7913G= (p.Cys2638=)
c.7877G= (p.Cys2626=)
c.4505G= (p.Cys1502=)
11g.17638532G>TCA379781318OTOGc.7913G>T (p.Cys2638Phe)
c.7877G>T (p.Cys2626Phe)
c.4505G>T (p.Cys1502Phe)
 gnomAD v4
11g.17638533C>ACA379781322OTOGc.7914C>A (p.Cys2638Ter)
c.7878C>A (p.Cys2626Ter)
c.4506C>A (p.Cys1502Ter)
 gnomAD v4
11g.17638533C=CA1955238560OTOGc.7914C= (p.Cys2638=)
c.7878C= (p.Cys2626=)
c.4506C= (p.Cys1502=)
11g.17638533C>GCA5906182OTOGc.7914C>G (p.Cys2638Trp)
c.7878C>G (p.Cys2626Trp)
c.4506C>G (p.Cys1502Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17638533C>TCA473299049OTOGc.7914C>T (p.Cys2638=)
c.7878C>T (p.Cys2626=)
c.4506C>T (p.Cys1502=)
 dbSNP gnomAD v3 gnomAD v4
11g.17638536dupCA2574771256OTOGc.7917dup (p.Tyr2640LeufsTer5)
c.7881dup (p.Tyr2628LeufsTer5)
c.4509dup (p.Tyr1504LeufsTer?)
 gnomAD v4
11g.17638534C>ACA379781341OTOGc.7915C>A (p.Pro2639Thr)
c.7879C>A (p.Pro2627Thr)
c.4507C>A (p.Pro1503Thr)
11g.17638534C=CA1955238561OTOGc.7915C= (p.Pro2639=)
c.7879C= (p.Pro2627=)
c.4507C= (p.Pro1503=)
11g.17638534C>GCA379781344OTOGc.7915C>G (p.Pro2639Ala)
c.7879C>G (p.Pro2627Ala)
c.4507C>G (p.Pro1503Ala)
 dbSNP
11g.17638534C>TCA379781348OTOGc.7915C>T (p.Pro2639Ser)
c.7879C>T (p.Pro2627Ser)
c.4507C>T (p.Pro1503Ser)
11g.17638535C>ACA379781353OTOGc.7916C>A (p.Pro2639His)
c.7880C>A (p.Pro2627His)
c.4508C>A (p.Pro1503His)
 gnomAD v4
11g.17638535C=CA1955238562OTOGc.7916C= (p.Pro2639=)
c.7880C= (p.Pro2627=)
c.4508C= (p.Pro1503=)
11g.17638535C>GCA379781356OTOGc.7916C>G (p.Pro2639Arg)
c.7880C>G (p.Pro2627Arg)
c.4508C>G (p.Pro1503Arg)
11g.17638535C>TCA218454668OTOGc.7916C>T (p.Pro2639Leu)
c.7880C>T (p.Pro2627Leu)
c.4508C>T (p.Pro1503Leu)
 dbSNP gnomAD v4
11g.17638536C>ACA473299054OTOGc.7917C>A (p.Pro2639=)
c.7881C>A (p.Pro2627=)
c.4509C>A (p.Pro1503=)
 gnomAD v4
11g.17638536C>GCA473299056OTOGc.7917C>G (p.Pro2639=)
c.7881C>G (p.Pro2627=)
c.4509C>G (p.Pro1503=)
11g.17638536C>TCA473299058OTOGc.7917C>T (p.Pro2639=)
c.7881C>T (p.Pro2627=)
c.4509C>T (p.Pro1503=)
 gnomAD v4
11g.17638537T>ACA379781371OTOGc.7918T>A (p.Tyr2640Asn)
c.7882T>A (p.Tyr2628Asn)
c.4510T>A (p.Tyr1504Asn)
11g.17638537T>CCA379781370OTOGc.7918T>C (p.Tyr2640His)
c.7882T>C (p.Tyr2628His)
c.4510T>C (p.Tyr1504His)
 gnomAD v4
11g.17638537T>GCA379781364OTOGc.7918T>G (p.Tyr2640Asp)
c.7882T>G (p.Tyr2628Asp)
c.4510T>G (p.Tyr1504Asp)
11g.17638538A>CCA379781372OTOGc.7919A>C (p.Tyr2640Ser)
c.7883A>C (p.Tyr2628Ser)
c.4511A>C (p.Tyr1504Ser)
11g.17638538A>GCA379781373OTOGc.7919A>G (p.Tyr2640Cys)
c.7883A>G (p.Tyr2628Cys)
c.4511A>G (p.Tyr1504Cys)
 gnomAD v4
11g.17638538A>TCA379781375OTOGc.7919A>T (p.Tyr2640Phe)
c.7883A>T (p.Tyr2628Phe)
c.4511A>T (p.Tyr1504Phe)
11g.17638539C>ACA379781377OTOGc.7920C>A (p.Tyr2640Ter)
c.7884C>A (p.Tyr2628Ter)
c.4512C>A (p.Tyr1504Ter)
 gnomAD v4
11g.17638539C=CA1955238563OTOGc.7920C= (p.Tyr2640=)
c.7884C= (p.Tyr2628=)
c.4512C= (p.Tyr1504=)
11g.17638539C>GCA379781379OTOGc.7920C>G (p.Tyr2640Ter)
c.7884C>G (p.Tyr2628Ter)
c.4512C>G (p.Tyr1504Ter)
11g.17638539C>TCA218454674OTOGc.7920C>T (p.Tyr2640=)
c.7884C>T (p.Tyr2628=)
c.4512C>T (p.Tyr1504=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17638540A>CCA379781383OTOGc.7921A>C (p.Lys2641Gln)
c.7885A>C (p.Lys2629Gln)
c.4513A>C (p.Lys1505Gln)
11g.17638540A>GCA379781385OTOGc.7921A>G (p.Lys2641Glu)
c.7885A>G (p.Lys2629Glu)
c.4513A>G (p.Lys1505Glu)
11g.17638540A>TCA379781389OTOGc.7921A>T (p.Lys2641Ter)
c.7885A>T (p.Lys2629Ter)
c.4513A>T (p.Lys1505Ter)
11g.17638541A=CA1955238564OTOGc.7922A= (p.Lys2641=)
c.7886A= (p.Lys2629=)
c.4514A= (p.Lys1505=)
11g.17638541A>CCA379781392OTOGc.7922A>C (p.Lys2641Thr)
c.7886A>C (p.Lys2629Thr)
c.4514A>C (p.Lys1505Thr)
11g.17638541A>GCA379781394OTOGc.7922A>G (p.Lys2641Arg)
c.7886A>G (p.Lys2629Arg)
c.4514A>G (p.Lys1505Arg)
11g.17638541A>TCA379781397OTOGc.7922A>T (p.Lys2641Ile)
c.7886A>T (p.Lys2629Ile)
c.4514A>T (p.Lys1505Ile)
 dbSNP
11g.17638542A=CA1955238565OTOGc.7923A= (p.Lys2641=)
c.7887A= (p.Lys2629=)
c.4515A= (p.Lys1505=)
11g.17638542A>CCA379781400OTOGc.7923A>C (p.Lys2641Asn)
c.7887A>C (p.Lys2629Asn)
c.4515A>C (p.Lys1505Asn)
11g.17638542A>GCA473299065OTOGc.7923A>G (p.Lys2641=)
c.7887A>G (p.Lys2629=)
c.4515A>G (p.Lys1505=)
 dbSNP gnomAD v3 gnomAD v4
11g.17638542A>TCA379781401OTOGc.7923A>T (p.Lys2641Asn)
c.7887A>T (p.Lys2629Asn)
c.4515A>T (p.Lys1505Asn)
11g.17638543T>ACA379781403OTOGc.7924T>A (p.Ser2642Thr)
c.7888T>A (p.Ser2630Thr)
c.4516T>A (p.Ser1506Thr)
11g.17638543T>CCA379781405OTOGc.7924T>C (p.Ser2642Pro)
c.7888T>C (p.Ser2630Pro)
c.4516T>C (p.Ser1506Pro)
11g.17638543T>GCA379781408OTOGc.7924T>G (p.Ser2642Ala)
c.7888T>G (p.Ser2630Ala)
c.4516T>G (p.Ser1506Ala)
11g.17638544C>ACA379781413OTOGc.7925C>A (p.Ser2642Tyr)
c.7889C>A (p.Ser2630Tyr)
c.4517C>A (p.Ser1506Tyr)
 gnomAD v4
11g.17638544C>GCA379781415OTOGc.7925C>G (p.Ser2642Cys)
c.7889C>G (p.Ser2630Cys)
c.4517C>G (p.Ser1506Cys)
 gnomAD v4
11g.17638544C>TCA379781419OTOGc.7925C>T (p.Ser2642Phe)
c.7889C>T (p.Ser2630Phe)
c.4517C>T (p.Ser1506Phe)

Number of alleles fetched