Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56863765_56872392delCA1139664706 ClinVar
16g.56865459_56865473delCA2633368872SLC12A3c.224_238del (p.Gln75_Pro79del)
gnomAD v4
16g.56865460G>ACA495787845SLC12A3c.225G>A (p.Gln75=)
16g.56865460G>CCA395977448SLC12A3c.225G>C (p.Gln75His)
16g.56865460G>TCA395977447SLC12A3c.225G>T (p.Gln75His)
16g.56865461C>ACA395977449SLC12A3c.226C>A (p.Pro76Thr)
dbSNP
16g.56865461C=CA2224346992SLC12A3c.226C= (p.Pro76=)
16g.56865461C>GCA395977452SLC12A3c.226C>G (p.Pro76Ala)
16g.56865461C>TCA395977455SLC12A3c.226C>T (p.Pro76Ser)
16g.56865462C>ACA395977459SLC12A3c.227C>A (p.Pro76His)
16g.56865462C=CA2224346993SLC12A3c.227C= (p.Pro76=)
16g.56865462C>GCA395977462SLC12A3c.227C>G (p.Pro76Arg)
16g.56865462C>TCA395977465SLC12A3c.227C>T (p.Pro76Leu)
dbSNP gnomAD v4
16g.56865463T>ACA495787846SLC12A3c.228T>A (p.Pro76=)
16g.56865463T>CCA495787847SLC12A3c.228T>C (p.Pro76=)
16g.56865463T>GCA495787848SLC12A3c.228T>G (p.Pro76=)
16g.56865464G>ACA395977469SLC12A3c.229G>A (p.Gly77Ser)
dbSNP gnomAD v2
16g.56865464G>CCA395977472SLC12A3c.229G>C (p.Gly77Arg)
16g.56865464G=CA2224346994SLC12A3c.229G= (p.Gly77=)
16g.56865464G>TCA395977476SLC12A3c.229G>T (p.Gly77Cys)
16g.56865465G>ACA395977481SLC12A3c.230G>A (p.Gly77Asp)
gnomAD v4
16g.56865465G>CCA8068937SLC12A3c.230G>C (p.Gly77Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865465G=CA2224346995SLC12A3c.230G= (p.Gly77=)
16g.56865465G>TCA395977490SLC12A3c.230G>T (p.Gly77Val)
16g.56865466T>ACA495787849SLC12A3c.231T>A (p.Gly77=)
16g.56865466T>CCA495787850SLC12A3c.231T>C (p.Gly77=)
16g.56865466T>GCA495787851SLC12A3c.231T>G (p.Gly77=)
16g.56865467G>ACA395977499SLC12A3c.232G>A (p.Glu78Lys)
16g.56865467G>CCA395977502SLC12A3c.232G>C (p.Glu78Gln)
16g.56865467G>TCA395977494SLC12A3c.232G>T (p.Glu78Ter)
16g.56865468A>CCA395977517SLC12A3c.233A>C (p.Glu78Ala)
16g.56865468A>GCA395977520SLC12A3c.233A>G (p.Glu78Gly)
16g.56865468A>TCA395977524SLC12A3c.233A>T (p.Glu78Val)
16g.56865469delCA2695223510SLC12A3c.234del (p.Glu78AspfsTer?)
16g.56865469G>ACA495787852SLC12A3c.234G>A (p.Glu78=)
ClinVar dbSNP
16g.56865469G>CCA395977528SLC12A3c.234G>C (p.Glu78Asp)
16g.56865469G=CA2224346996SLC12A3c.234G= (p.Glu78=)
16g.56865469G>TCA395977534SLC12A3c.234G>T (p.Glu78Asp)
16g.56865470C>ACA395977546SLC12A3c.235C>A (p.Pro79Thr)
gnomAD v4
16g.56865470C>GCA395977539SLC12A3c.235C>G (p.Pro79Ala)
16g.56865470C>TCA395977542SLC12A3c.235C>T (p.Pro79Ser)
gnomAD v4
16g.56865472_56865473dupCA8068938SLC12A3c.237_238dup (p.Arg80ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865473delCA2695223511SLC12A3c.238del (p.Arg80GlyfsTer?)
16g.56865471C>ACA395977555SLC12A3c.236C>A (p.Pro79His)
16g.56865471C=CA2224346997SLC12A3c.236C= (p.Pro79=)
16g.56865471C>GCA395977558SLC12A3c.236C>G (p.Pro79Arg)
16g.56865471C>TCA8068939SLC12A3c.236C>T (p.Pro79Leu)
dbSNP ExAC gnomAD v2
16g.56865472C>ACA495787853SLC12A3c.237C>A (p.Pro79=)
16g.56865472C>GCA495787854SLC12A3c.237C>G (p.Pro79=)
16g.56865472C>TCA495787855SLC12A3c.237C>T (p.Pro79=)
ClinVar gnomAD v4
16g.56865473C>ACA495787856SLC12A3c.238C>A (p.Arg80=)
16g.56865473C=CA2224346998SLC12A3c.238C= (p.Arg80=)
16g.56865473C>GCA395977574SLC12A3c.238C>G (p.Arg80Gly)
16g.56865473C>TCA8068940SLC12A3c.238C>T (p.Arg80Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56865474G>ACA395977582SLC12A3c.239G>A (p.Arg80Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56865474G>CCA395977586SLC12A3c.239G>C (p.Arg80Pro)
16g.56865474G=CA2224346999SLC12A3c.239G= (p.Arg80=)
16g.56865474G>TCA395977584SLC12A3c.239G>T (p.Arg80Leu)
16g.56865475G>ACA495787857SLC12A3c.240G>A (p.Arg80=)
16g.56865475G>CCA495787858SLC12A3c.240G>C (p.Arg80=)
ClinVar dbSNP gnomAD v4
16g.56865475G>TCA495787859SLC12A3c.240G>T (p.Arg80=)
16g.56865476A>CCA395977589SLC12A3c.241A>C (p.Lys81Gln)
16g.56865476A>GCA395977593SLC12A3c.241A>G (p.Lys81Glu)
16g.56865476A>TCA395977597SLC12A3c.241A>T (p.Lys81Ter)
16g.56865477A>CCA395977602SLC12A3c.242A>C (p.Lys81Thr)
16g.56865477A>GCA395977604SLC12A3c.242A>G (p.Lys81Arg)
COSMIC
16g.56865477A>TCA395977608SLC12A3c.242A>T (p.Lys81Met)
16g.56865478G>ACA495787860SLC12A3c.243G>A (p.Lys81=)
COSMIC
16g.56865478G>CCA395977614SLC12A3c.243G>C (p.Lys81Asn)
16g.56865478G>TCA395977616SLC12A3c.243G>T (p.Lys81Asn)
16g.56865479G>ACA395977620SLC12A3c.244G>A (p.Val82Ile)
COSMIC
16g.56865479G>CCA395977621SLC12A3c.244G>C (p.Val82Leu)
16g.56865479G=CA2224347000SLC12A3c.244G= (p.Val82=)
16g.56865479G>TCA395977622SLC12A3c.244G>T (p.Val82Phe)
dbSNP gnomAD v3 gnomAD v4
16g.56865480T>ACA395977626SLC12A3c.245T>A (p.Val82Asp)
16g.56865480T>CCA395977634SLC12A3c.245T>C (p.Val82Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56865480T>GCA395977629SLC12A3c.245T>G (p.Val82Gly)
16g.56865480T=CA2224347001SLC12A3c.245T= (p.Val82=)
16g.56865481C>ACA281492381SLC12A3c.246C>A (p.Val82=)
dbSNP gnomAD v4
16g.56865481C=CA2224347002SLC12A3c.246C= (p.Val82=)
16g.56865481C>GCA495787861SLC12A3c.246C>G (p.Val82=)
16g.56865481C>TCA495787862SLC12A3c.246C>T (p.Val82=)
dbSNP gnomAD v4
16g.56865482C>ACA495787863SLC12A3c.247C>A (p.Arg83=)
gnomAD v4
16g.56865482C=CA2224347003SLC12A3c.247C= (p.Arg83=)
16g.56865482C>GCA395977639SLC12A3c.247C>G (p.Arg83Gly)
16g.56865482C>TCA8068941SLC12A3c.247C>T (p.Arg83Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865483G>ACA8068942SLC12A3c.248G>A (p.Arg83Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865483G>CCA395977658SLC12A3c.248G>C (p.Arg83Pro)
16g.56865483G=CA2224347004SLC12A3c.248G= (p.Arg83=)
16g.56865483G>TCA395977653SLC12A3c.248G>T (p.Arg83Leu)
16g.56865484G>ACA495787864SLC12A3c.249G>A (p.Arg83=)
dbSNP
16g.56865484G>CCA495787865SLC12A3c.249G>C (p.Arg83=)
16g.56865484G=CA2224347005SLC12A3c.249G= (p.Arg83=)
16g.56865484G>TCA8068943SLC12A3c.249G>T (p.Arg83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865485C>ACA395977670SLC12A3c.250C>A (p.Pro84Thr)
16g.56865485C=CA2224347006SLC12A3c.250C= (p.Pro84=)
16g.56865485C>GCA395977673SLC12A3c.250C>G (p.Pro84Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56865485C>TCA395977674SLC12A3c.250C>T (p.Pro84Ser)
16g.56865486C>ACA395977675SLC12A3c.251C>A (p.Pro84His)
16g.56865486C=CA2224347007SLC12A3c.251C= (p.Pro84=)
16g.56865486C>GCA395977676SLC12A3c.251C>G (p.Pro84Arg)
16g.56865486C>TCA395977679SLC12A3c.251C>T (p.Pro84Leu)
dbSNP gnomAD v2
16g.56865487C>ACA495787866SLC12A3c.252C>A (p.Pro84=)
dbSNP gnomAD v2
16g.56865487C=CA2224347008SLC12A3c.252C= (p.Pro84=)
16g.56865487C>GCA495787867SLC12A3c.252C>G (p.Pro84=)
16g.56865487C>TCA8068944SLC12A3c.252C>T (p.Pro84=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865488A>CCA395977702SLC12A3c.253A>C (p.Thr85Pro)
16g.56865488A>GCA395977705SLC12A3c.253A>G (p.Thr85Ala)
16g.56865488A>TCA395977707SLC12A3c.253A>T (p.Thr85Ser)
16g.56865489C>ACA395977721SLC12A3c.254C>A (p.Thr85Lys)
16g.56865489C>GCA395977717SLC12A3c.254C>G (p.Thr85Arg)
16g.56865489C>TCA395977712SLC12A3c.254C>T (p.Thr85Ile)
gnomAD v4
16g.56865490A=CA2224347009SLC12A3c.255A= (p.Thr85=)
16g.56865490A>CCA8068945SLC12A3c.255A>C (p.Thr85=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865490A>GCA495787869SLC12A3c.255A>G (p.Thr85=)
ClinVar dbSNP gnomAD v4
16g.56865490A>TCA495787868SLC12A3c.255A>T (p.Thr85=)
ClinVar
16g.56865491C>ACA395977730SLC12A3c.256C>A (p.Leu86Met)
dbSNP
16g.56865491C=CA2224347010SLC12A3c.256C= (p.Leu86=)
16g.56865491C>GCA8068946SLC12A3c.256C>G (p.Leu86Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865491C>TCA495787870SLC12A3c.256C>T (p.Leu86=)
gnomAD v4
16g.56865492T>ACA395977734SLC12A3c.257T>A (p.Leu86Gln)
16g.56865492T>CCA395977737SLC12A3c.257T>C (p.Leu86Pro)
16g.56865492T>GCA395977740SLC12A3c.257T>G (p.Leu86Arg)
16g.56865493G>ACA495787871SLC12A3c.258G>A (p.Leu86=)
16g.56865493G>CCA495787872SLC12A3c.258G>C (p.Leu86=)
16g.56865493G=CA2224347011SLC12A3c.258G= (p.Leu86=)
16g.56865493G>TCA495787873SLC12A3c.258G>T (p.Leu86=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865494G>ACA395977743SLC12A3c.259G>A (p.Ala87Thr)
dbSNP gnomAD v2 gnomAD v4
16g.56865494G>CCA395977746SLC12A3c.259G>C (p.Ala87Pro)
16g.56865494G=CA2224347012SLC12A3c.259G= (p.Ala87=)
16g.56865494G>TCA395977749SLC12A3c.259G>T (p.Ala87Ser)
gnomAD v4
16g.56865495C>ACA395977752SLC12A3c.260C>A (p.Ala87Asp)
16g.56865495C>GCA395977755SLC12A3c.260C>G (p.Ala87Gly)
16g.56865495C>TCA395977756SLC12A3c.260C>T (p.Ala87Val)
16g.56865496T>ACA495787874SLC12A3c.261T>A (p.Ala87=)
16g.56865496T>CCA495787876SLC12A3c.261T>C (p.Ala87=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865496T>GCA495787875SLC12A3c.261T>G (p.Ala87=)
16g.56865496T=CA2224347013SLC12A3c.261T= (p.Ala87=)
16g.56865497G>ACA395977763SLC12A3c.262G>A (p.Asp88Asn)
16g.56865497G>CCA395977760SLC12A3c.262G>C (p.Asp88His)
16g.56865497G>TCA395977757SLC12A3c.262G>T (p.Asp88Tyr)
16g.56865498A=CA2224347014SLC12A3c.263A= (p.Asp88=)
16g.56865498A>CCA395977772SLC12A3c.263A>C (p.Asp88Ala)
16g.56865498A>GCA395977767SLC12A3c.263A>G (p.Asp88Gly)
dbSNP gnomAD v3 gnomAD v4
16g.56865498A>TCA395977770SLC12A3c.263A>T (p.Asp88Val)
16g.56865499C>ACA395977775SLC12A3c.264C>A (p.Asp88Glu)
dbSNP gnomAD v3 gnomAD v4
16g.56865499C=CA2224347015SLC12A3c.264C= (p.Asp88=)
16g.56865499C>GCA395977777SLC12A3c.264C>G (p.Asp88Glu)
16g.56865499C>TCA495787877SLC12A3c.264C>T (p.Asp88=)
16g.56865500C>ACA395977781SLC12A3c.265C>A (p.Leu89Met)
16g.56865500C>GCA395977784SLC12A3c.265C>G (p.Leu89Val)
16g.56865500C>TCA495787878SLC12A3c.265C>T (p.Leu89=)
gnomAD v4
16g.56865501T>ACA395977787SLC12A3c.266T>A (p.Leu89Gln)
16g.56865501T>CCA395977788SLC12A3c.266T>C (p.Leu89Pro)
16g.56865501T>GCA395977790SLC12A3c.266T>G (p.Leu89Arg)
dbSNP gnomAD v2 gnomAD v4
16g.56865501T=CA2224347016SLC12A3c.266T= (p.Leu89=)
16g.56865502G>ACA495787879SLC12A3c.267G>A (p.Leu89=)
ClinVar dbSNP gnomAD v4
16g.56865502G>CCA495787880SLC12A3c.267G>C (p.Leu89=)
gnomAD v4
16g.56865502G>TCA495787881SLC12A3c.267G>T (p.Leu89=)
16g.56865503C>ACA395977793SLC12A3c.268C>A (p.His90Asn)
16g.56865503C=CA2224347017SLC12A3c.268C= (p.His90=)
16g.56865503C>GCA395977797SLC12A3c.268C>G (p.His90Asp)
16g.56865503C>TCA395977799SLC12A3c.268C>T (p.His90Tyr)
ClinVar dbSNP
16g.56865504A=CA2224347018SLC12A3c.269A= (p.His90=)
16g.56865504A>CCA395977806SLC12A3c.269A>C (p.His90Pro)
dbSNP gnomAD v4
16g.56865504A>GCA395977807SLC12A3c.269A>G (p.His90Arg)
gnomAD v4
16g.56865504A>TCA395977804SLC12A3c.269A>T (p.His90Leu)
16g.56865505C>ACA395977808SLC12A3c.270C>A (p.His90Gln)
16g.56865505C>GCA395977809SLC12A3c.270C>G (p.His90Gln)
16g.56865505C>TCA495787882SLC12A3c.270C>T (p.His90=)
ClinVar dbSNP gnomAD v4
16g.56865506T>ACA395977815SLC12A3c.271T>A (p.Ser91Thr)
16g.56865506T>CCA395977818SLC12A3c.271T>C (p.Ser91Pro)
ClinVar dbSNP
16g.56865506T>GCA395977823SLC12A3c.271T>G (p.Ser91Ala)
16g.56865506T=CA2224347019SLC12A3c.271T= (p.Ser91=)
16g.56865507C>ACA395977833SLC12A3c.272C>A (p.Ser91Tyr)
16g.56865507C=CA2224347020SLC12A3c.272C= (p.Ser91=)
16g.56865507C>GCA395977828SLC12A3c.272C>G (p.Ser91Cys)
dbSNP gnomAD v4
16g.56865507C>TCA395977830SLC12A3c.272C>T (p.Ser91Phe)
dbSNP gnomAD v2 gnomAD v4
16g.56865507_56865508delinsTTCA645573536SLC12A3c.272_273delinsTT (p.Ser91Phe)
COSMIC
16g.56865508C>ACA495787884SLC12A3c.273C>A (p.Ser91=)
16g.56865508C>GCA495787885SLC12A3c.273C>G (p.Ser91=)
16g.56865508C>TCA495787883SLC12A3c.273C>T (p.Ser91=)
gnomAD v4
16g.56865509T>ACA395977836SLC12A3c.274T>A (p.Phe92Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865509T>CCA395977839SLC12A3c.274T>C (p.Phe92Leu)
16g.56865509T>GCA395977842SLC12A3c.274T>G (p.Phe92Val)
16g.56865509T=CA2224347021SLC12A3c.274T= (p.Phe92=)
16g.56865510T>ACA395977851SLC12A3c.275T>A (p.Phe92Tyr)
16g.56865510T>CCA395977854SLC12A3c.275T>C (p.Phe92Ser)
16g.56865510T>GCA395977859SLC12A3c.275T>G (p.Phe92Cys)
16g.56865511C>ACA395977864SLC12A3c.276C>A (p.Phe92Leu)
16g.56865511C=CA2224347022SLC12A3c.276C= (p.Phe92=)
16g.56865511C>GCA395977866SLC12A3c.276C>G (p.Phe92Leu)
16g.56865511C>TCA281492393SLC12A3c.276C>T (p.Phe92=)
dbSNP gnomAD v4
16g.56865512C>ACA395977870SLC12A3c.277C>A (p.Leu93Ile)
16g.56865512C=CA2224347023SLC12A3c.277C= (p.Leu93=)
16g.56865512C>GCA395977876SLC12A3c.277C>G (p.Leu93Val)
16g.56865512C>TCA8068947SLC12A3c.277C>T (p.Leu93Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865513_56865514delCA2732474919SLC12A3c.278_279del (p.Leu93GlnfsTer13)
c.278_279del (p.Leu93GlnfsTer12)
dbSNP
16g.56865513T>ACA395977879SLC12A3c.278T>A (p.Leu93His)
16g.56865513T>CCA395977881SLC12A3c.278T>C (p.Leu93Pro)
16g.56865513T>GCA395977885SLC12A3c.278T>G (p.Leu93Arg)
16g.56865514C>ACA495787886SLC12A3c.279C>A (p.Leu93=)
16g.56865514C=CA2224347024SLC12A3c.279C= (p.Leu93=)
16g.56865514C>GCA495787887SLC12A3c.279C>G (p.Leu93=)
COSMIC
16g.56865514C>TCA281492397SLC12A3c.279C>T (p.Leu93=)
dbSNP
16g.56865515A>CCA395977890SLC12A3c.280A>C (p.Lys94Gln)
16g.56865515A>GCA395977892SLC12A3c.280A>G (p.Lys94Glu)
16g.56865515A>TCA395977895SLC12A3c.280A>T (p.Lys94Ter)
16g.56865516A>CCA395977899SLC12A3c.281A>C (p.Lys94Thr)
16g.56865516A>GCA395977902SLC12A3c.281A>G (p.Lys94Arg)
16g.56865516A>TCA395977912SLC12A3c.281A>T (p.Lys94Met)
16g.56865517G>ACA495787888SLC12A3c.282G>A (p.Lys94=)
dbSNP gnomAD v2 gnomAD v4
16g.56865517G>CCA395977916SLC12A3c.282G>C (p.Lys94Asn)
16g.56865517G=CA2224347025SLC12A3c.282G= (p.Lys94=)
16g.56865517G>TCA395977917SLC12A3c.282G>T (p.Lys94Asn)
16g.56865518G>ACA395977925SLC12A3c.282+1G>A (n.282+1G>A)
16g.56865518G>CCA395977921SLC12A3c.282+1G>C (n.282+1G>C)
16g.56865518G>TCA395977923SLC12A3c.282+1G>T (n.282+1G>T)
gnomAD v4
16g.56865519T>ACA395977928SLC12A3c.282+2T>A (n.282+2T>A)
gnomAD v4
16g.56865519T>CCA395977931SLC12A3c.282+2T>C (n.282+2T>C)
16g.56865519T>GCA395977933SLC12A3c.282+2T>G (n.282+2T>G)
16g.56865520A>GCA2807159559SLC12A3c.282+3A>G (n.282+3A>G)
16g.56865520_56865521insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCCCA2633369082SLC12A3c.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC (n.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC)
gnomAD v4
16g.56865521A>GCA2633369084SLC12A3c.282+4A>G (n.282+4A>G)
gnomAD v4
16g.56865524G>ACA2573152444SLC12A3c.282+7G>A (n.282+7G>A)
ClinVar dbSNP
16g.56865524G>CCA2633369087SLC12A3c.282+7G>C (n.282+7G>C)
gnomAD v4
16g.56865524G>TCA2633369089SLC12A3c.282+7G>T (n.282+7G>T)
gnomAD v4
16g.56865525C>TCA2633369092SLC12A3c.282+8C>T (n.282+8C>T)
gnomAD v4
16g.56865526T>CCA2633369096SLC12A3c.282+9T>C (n.282+9T>C)
gnomAD v4
16g.56865527G>ACA2633369100SLC12A3c.282+10G>A (n.282+10G>A)
gnomAD v4
16g.56865527G=CA2224347026SLC12A3c.282+10G= (n.282+10G=)
16g.56865527G>TCA8068948SLC12A3c.282+10G>T (n.282+10G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865531C>ACA2224347028SLC12A3c.282+14C>A (n.282+14C>A)
dbSNP
16g.56865531C=CA2224347027SLC12A3c.282+14C= (n.282+14C=)
16g.56865531C>TCA2633369109SLC12A3c.282+14C>T (n.282+14C>T)
gnomAD v4
16g.56865532A>CCA2576001572SLC12A3c.282+15A>C (n.282+15A>C)
16g.56865532A>GCA2633369113SLC12A3c.282+15A>G (n.282+15A>G)
gnomAD v4
16g.56865532A>TCA2633369114SLC12A3c.282+15A>T (n.282+15A>T)
gnomAD v4
16g.56865533G>ACA977635849SLC12A3c.282+16G>A (n.282+16G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865533G=CA2224347029SLC12A3c.282+16G= (n.282+16G=)
16g.56865533G>TCA2633369120SLC12A3c.282+16G>T (n.282+16G>T)
gnomAD v4
16g.56865536G>ACA622332142SLC12A3c.282+19G>A (n.282+19G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865536G=CA2224347030SLC12A3c.282+19G= (n.282+19G=)
16g.56865536G>TCA2633369124SLC12A3c.282+19G>T (n.282+19G>T)
gnomAD v4
16g.56865537A>TCA2739266764SLC12A3c.282+20A>T (n.282+20A>T)
ClinVar
16g.56865538C>ACA2633369130SLC12A3c.282+21C>A (n.282+21C>A)
gnomAD v4
16g.56865538C=CA2224347031SLC12A3c.282+21C= (n.282+21C=)
16g.56865538C>GCA2224347032SLC12A3c.282+21C>G (n.282+21C>G)
dbSNP
16g.56865539T>CCA722001550SLC12A3c.282+22T>C (n.282+22T>C)
dbSNP
16g.56865539T=CA2224347033SLC12A3c.282+22T= (n.282+22T=)
16g.56865540G>TCA2552570240SLC12A3c.282+23G>T (n.282+23G>T)
gnomAD v4
16g.56865541G>TCA2633369133SLC12A3c.282+24G>T (n.282+24G>T)
gnomAD v4
16g.56865542C>TCA2633369135SLC12A3c.282+25C>T (n.282+25C>T)
gnomAD v4
16g.56865543C=CA2224347034SLC12A3c.282+26C= (n.282+26C=)
16g.56865543C>TCA8068949SLC12A3c.282+26C>T (n.282+26C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865544A=CA2224347035SLC12A3c.282+27A= (n.282+27A=)
16g.56865544A>GCA8068950SLC12A3c.282+27A>G (n.282+27A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865545C=CA2224347036SLC12A3c.282+28C= (n.282+28C=)
16g.56865545C>TCA8068951SLC12A3c.282+28C>T (n.282+28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865546T>CCA622332143SLC12A3c.282+29T>C (n.282+29T>C)
dbSNP gnomAD v2 gnomAD v4
16g.56865546T=CA2224347037SLC12A3c.282+29T= (n.282+29T=)
16g.56865548C=CA2224347038SLC12A3c.282+31C= (n.282+31C=)
16g.56865548C>TCA8068952SLC12A3c.282+31C>T (n.282+31C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865549C=CA2224347039SLC12A3c.282+32C= (n.282+32C=)
16g.56865549C>TCA8068953SLC12A3c.282+32C>T (n.282+32C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865550C>ACA2633369160SLC12A3c.282+33C>A (n.282+33C>A)
gnomAD v4
16g.56865551T>CCA2633369165SLC12A3c.282+34T>C (n.282+34T>C)
gnomAD v4
16g.56865551T>GCA8068954SLC12A3c.282+34T>G (n.282+34T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865551T=CA2224347040SLC12A3c.282+34T= (n.282+34T=)
16g.56865552G>ACA281492409SLC12A3c.282+35G>A (n.282+35G>A)
dbSNP gnomAD v3 gnomAD v4
16g.56865552G=CA2224347041SLC12A3c.282+35G= (n.282+35G=)
16g.56865553C>ACA2633369177SLC12A3c.282+36C>A (n.282+36C>A)
gnomAD v4
16g.56865553C=CA2224347042SLC12A3c.282+36C= (n.282+36C=)
16g.56865553C>TCA8068955SLC12A3c.282+36C>T (n.282+36C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865554T>CCA622332144SLC12A3c.282+37T>C (n.282+37T>C)
dbSNP gnomAD v2 gnomAD v4
16g.56865554T=CA2224347043SLC12A3c.282+37T= (n.282+37T=)
16g.56865555G>ACA622332146SLC12A3c.282+38G>A (n.282+38G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56865555G>CCA281492415SLC12A3c.282+38G>C (n.282+38G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865555G=CA2224347044SLC12A3c.282+38G= (n.282+38G=)
16g.56865555G>TCA622332145SLC12A3c.282+38G>T (n.282+38G>T)
dbSNP gnomAD v2
16g.56865556T>CCA722001580SLC12A3c.282+39T>C (n.282+39T>C)
dbSNP
16g.56865556T>GCA2633369194SLC12A3c.282+39T>G (n.282+39T>G)
gnomAD v4
16g.56865556T=CA2224347045SLC12A3c.282+39T= (n.282+39T=)
16g.56865557G>CCA2633369198SLC12A3c.282+40G>C (n.282+40G>C)
gnomAD v4
16g.56865557G>TCA2633369199SLC12A3c.282+40G>T (n.282+40G>T)
gnomAD v4
16g.56865558_56865559insCGAGGTCACACAGCAGCA2633369200SLC12A3c.282+41_282+42insCGAGGTCACACAGCAG (n.282+41_282+42insCGAGGTCACACAGCAG)
gnomAD v4
16g.56865560_56865561delinsACCA2224347046SLC12A3c.282+43_282+44delinsAC (n.282+43_282+44delinsAC)

Number of alleles fetched