Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39665288delCA2576253820TCAPc.-72del (n.-72del)
gnomAD v4
17g.39665287A=CA2259200446TCAPc.-73A= (n.-73A=)
17g.39665287A>GCA625938784TCAPc.-73A>G (n.-73A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665287A>TCA771857739TCAPc.-73A>T (n.-73A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665289T>CCA2637632061TCAPc.-71T>C (n.-71T>C)
gnomAD v4
17g.39665291G>ACA2637632062TCAPc.-69G>A (n.-69G>A)
gnomAD v4
17g.39665292C>ACA2576253821TCAPc.-68C>A (n.-68C>A)
gnomAD v4
17g.39665293C>ACA290433580TCAPc.-67C>A (n.-67C>A)
dbSNP gnomAD v3 gnomAD v4
17g.39665293C=CA2259200447TCAPc.-67C= (n.-67C=)
17g.39665293C>TCA2637632063TCAPc.-67C>T (n.-67C>T)
gnomAD v4
17g.39665294C>GCA2637632064TCAPc.-66C>G (n.-66C>G)
gnomAD v4
17g.39665294C>TCA2637632065TCAPc.-66C>T (n.-66C>T)
gnomAD v4
17g.39665295C=CA2259200448TCAPc.-65C= (n.-65C=)
17g.39665295C>TCA2259200449TCAPc.-65C>T (n.-65C>T)
dbSNP
17g.39665295_39665296insCTCCTCCCCCTTCCA2637632066TCAPc.-65_-64insCTCCTCCCCCTTC (n.-65_-64insCTCCTCCCCCTTC)
gnomAD v4
17g.39665296T>CCA2637632067TCAPc.-64T>C (n.-64T>C)
gnomAD v4
17g.39665296T>GCA2576253822TCAPc.-64T>G (n.-64T>G)
17g.39665297G>CCA2637632068TCAPc.-63G>C (n.-63G>C)
gnomAD v4
17g.39665297G>TCA2576253823TCAPc.-63G>T (n.-63G>T)
gnomAD v4
17g.39665298G>ACA2637632078TCAPc.-62G>A (n.-62G>A)
gnomAD v4
17g.39665298G>CCA2637632079TCAPc.-62G>C (n.-62G>C)
gnomAD v4
17g.39665299A=CA2259200450TCAPc.-61A= (n.-61A=)
17g.39665299A>GCA2259200451TCAPc.-61A>G (n.-61A>G)
dbSNP
17g.39665301_39665313delCA2637632080TCAPc.-59_-47del (n.-59_-47del)
gnomAD v4
17g.39665301A>GCA2637632081TCAPc.-59A>G (n.-59A>G)
gnomAD v4
17g.39665302A>CCA2637632082TCAPc.-58A>C (n.-58A>C)
gnomAD v4
17g.39665303G>ACA983629061TCAPc.-57G>A (n.-57G>A)
dbSNP gnomAD v3 gnomAD v4
17g.39665303G>CCA2637632085TCAPc.-57G>C (n.-57G>C)
gnomAD v4
17g.39665303G=CA2259200452TCAPc.-57G= (n.-57G=)
17g.39665303G>TCA290433586TCAPc.-57G>T (n.-57G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665307dupCA2637632083TCAPc.-53dup (n.-53dup)
gnomAD v4
17g.39665304G>ACA2259200454TCAPc.-56G>A (n.-56G>A)
dbSNP gnomAD v4
17g.39665304G>CCA2637632090TCAPc.-56G>C (n.-56G>C)
gnomAD v4
17g.39665304G=CA2259200453TCAPc.-56G= (n.-56G=)
17g.39665304G>TCA2637632089TCAPc.-56G>T (n.-56G>T)
gnomAD v4
17g.39665305_39665349dupCA2637632087TCAPc.-55_-11dup (n.-55_-11dup)
gnomAD v4
17g.39665305G>CCA2576253824TCAPc.-55G>C (n.-55G>C)
17g.39665306G>ACA2259200456TCAPc.-54G>A (n.-54G>A)
dbSNP gnomAD v4
17g.39665306G=CA2259200455TCAPc.-54G= (n.-54G=)
17g.39665307G>ACA2637632092TCAPc.-53G>A (n.-53G>A)
gnomAD v4
17g.39665308A=CA2259200457TCAPc.-52A= (n.-52A=)
17g.39665308A>GCA2576253825TCAPc.-52A>G (n.-52A>G)
gnomAD v4
17g.39665309G>ACA2259200458TCAPc.-51G>A (n.-51G>A)
dbSNP gnomAD v4
17g.39665309G=CA2259200459TCAPc.-51G= (n.-51G=)
17g.39665309_39665317dupCA983629066TCAPc.-51_-43dup (n.-51_-43dup)
dbSNP gnomAD v3 gnomAD v4
17g.39665310G>ACA2637632094TCAPc.-50G>A (n.-50G>A)
gnomAD v4
17g.39665310G>CCA2259200460TCAPc.-50G>C (n.-50G>C)
dbSNP gnomAD v4
17g.39665310G=CA2259200461TCAPc.-50G= (n.-50G=)
17g.39665311A>GCA2637632095TCAPc.-49A>G (n.-49A>G)
gnomAD v4
17g.39665312G>TCA2637632096TCAPc.-48G>T (n.-48G>T)
gnomAD v4
17g.39665313G>ACA2809442559TCAPc.-47G>A (n.-47G>A)
17g.39665314G>ACA8532804TCAPc.-46G>A (n.-46G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665314G=CA2259200462TCAPc.-46G= (n.-46G=)
17g.39665314G>TCA2576253826TCAPc.-46G>T (n.-46G>T)
17g.39665315G>ACA8532805TCAPc.-45G>A (n.-45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665315G=CA2259200463TCAPc.-45G= (n.-45G=)
17g.39665316G>ACA2259200465TCAPc.-44G>A (n.-44G>A)
dbSNP gnomAD v4
17g.39665316G>CCA2637632098TCAPc.-44G>C (n.-44G>C)
gnomAD v4
17g.39665316G=CA2259200464TCAPc.-44G= (n.-44G=)
17g.39665317C=CA2259200466TCAPc.-43C= (n.-43C=)
17g.39665317C>TCA8532806TCAPc.-43C>T (n.-43C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665320_39665323delCA2637632101TCAPc.-40_-37del (n.-40_-37del)
gnomAD v4
17g.39665319A=CA2259200467TCAPc.-41A= (n.-41A=)
17g.39665319A>CCA2637632102TCAPc.-41A>C (n.-41A>C)
gnomAD v4
17g.39665319A>GCA2259200468TCAPc.-41A>G (n.-41A>G)
dbSNP gnomAD v4
17g.39665320T>GCA2637632103TCAPc.-40T>G (n.-40T>G)
gnomAD v4
17g.39665322T>ACA290433606TCAPc.-38T>A (n.-38T>A)
dbSNP
17g.39665322T=CA2259200469TCAPc.-38T= (n.-38T=)
17g.39665324A>GCA2637632104TCAPc.-36A>G (n.-36A>G)
gnomAD v4
17g.39665325A>GCA2637632106TCAPc.-35A>G (n.-35A>G)
gnomAD v4
17g.39665326G>ACA2637632107TCAPc.-34G>A (n.-34G>A)
gnomAD v4
17g.39665328G>ACA2637632110TCAPc.-32G>A (n.-32G>A)
gnomAD v4
17g.39665328G>CCA2637632111TCAPc.-32G>C (n.-32G>C)
gnomAD v4
17g.39665329C>ACA2637632112TCAPc.-31C>A (n.-31C>A)
gnomAD v4
17g.39665329C>TCA2576253827TCAPc.-31C>T (n.-31C>T)
gnomAD v4
17g.39665330C=CA2259200470TCAPc.-30C= (n.-30C=)
17g.39665330C>TCA290433609TCAPc.-30C>T (n.-30C>T)
dbSNP gnomAD v3 gnomAD v4
17g.39665331T>CCA983629071TCAPc.-29T>C (n.-29T>C)
dbSNP gnomAD v3 gnomAD v4
17g.39665331T=CA2259200471TCAPc.-29T= (n.-29T=)
17g.39665332G>ACA8532807TCAPc.-28G>A (n.-28G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665332G>CCA8532808TCAPc.-28G>C (n.-28G>C)
dbSNP ExAC gnomAD v2
17g.39665332G=CA2259200472TCAPc.-28G= (n.-28G=)
17g.39665334delCA2733572967TCAPc.-26del (n.-26del)
dbSNP
17g.39665333G>ACA2637632113TCAPc.-27G>A (n.-27G>A)
gnomAD v4
17g.39665334G>ACA8532809TCAPc.-26G>A (n.-26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665334G=CA2259200473TCAPc.-26G= (n.-26G=)
17g.39665334G>TCA2637632114TCAPc.-26G>T (n.-26G>T)
gnomAD v4
17g.39665335delCA2637632115TCAPc.-25del (n.-25del)
gnomAD v4
17g.39665335A=CA2259200474TCAPc.-25A= (n.-25A=)
17g.39665335A>CCA625938786TCAPc.-25A>C (n.-25A>C)
dbSNP gnomAD v2 gnomAD v4
17g.39665336G>ACA8532810TCAPc.-24G>A (n.-24G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665336G=CA2259200475TCAPc.-24G= (n.-24G=)
17g.39665336G>TCA625938787TCAPc.-24G>T (n.-24G>T)
dbSNP gnomAD v2 gnomAD v4
17g.39665337G>ACA8532811TCAPc.-23G>A (n.-23G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665337G=CA2259200476TCAPc.-23G= (n.-23G=)
17g.39665337G>TCA2637632118TCAPc.-23G>T (n.-23G>T)
gnomAD v4
17g.39665338G>ACA625938788TCAPc.-22G>A (n.-22G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665338G=CA2259200478TCAPc.-22G= (n.-22G=)
17g.39665338G>TCA2637632119TCAPc.-22G>T (n.-22G>T)
gnomAD v4
17g.39665338_39665340delinsGGACA2259200477TCAPc.-22_-20delinsGGA (n.-22_-20delinsGGA)
17g.39665339G>ACA2576253828TCAPc.-21G>A (n.-21G>A)
gnomAD v4
17g.39665345_39665346delCA771857750TCAPc.-15_-14del (n.-15_-14del)
dbSNP
17g.39665340A=CA2259200479TCAPc.-20A= (n.-20A=)
17g.39665340A>CCA625938790TCAPc.-20A>C (n.-20A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665340A>GCA8532812TCAPc.-20A>G (n.-20A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665341G>CCA2259200481TCAPc.-19G>C (n.-19G>C)
dbSNP
17g.39665341G=CA2259200480TCAPc.-19G= (n.-19G=)
17g.39665341G>TCA2259200482TCAPc.-19G>T (n.-19G>T)
dbSNP
17g.39665342A=CA2259200483TCAPc.-18A= (n.-18A=)
17g.39665342A>GCA8532813TCAPc.-18A>G (n.-18A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665343G>CCA8532814TCAPc.-17G>C (n.-17G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665343G=CA2259200484TCAPc.-17G= (n.-17G=)
17g.39665344A=CA2259200485TCAPc.-16A= (n.-16A=)
17g.39665344A>GCA2259200486TCAPc.-16A>G (n.-16A>G)
dbSNP
17g.39665345G>ACA2637632124TCAPc.-15G>A (n.-15G>A)
gnomAD v4
17g.39665345G>CCA983629096TCAPc.-15G>C (n.-15G>C)
dbSNP gnomAD v3 gnomAD v4
17g.39665345G=CA2259200487TCAPc.-15G= (n.-15G=)
17g.39665345G>TCA2637632125TCAPc.-15G>T (n.-15G>T)
gnomAD v4
17g.39665347A=CA2259200488TCAPc.-13A= (n.-13A=)
17g.39665347A>GCA308816TCAPc.-13A>G (n.-13A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665348T>ACA290433656TCAPc.-12T>A (n.-12T>A)
dbSNP
17g.39665348T>GCA290433659TCAPc.-12T>G (n.-12T>G)
dbSNP gnomAD v3 gnomAD v4
17g.39665348T=CA2259200489TCAPc.-12T= (n.-12T=)
17g.39665349G>ACA2809442560TCAPc.-11G>A (n.-11G>A)
17g.39665352G>TCA2637632131TCAPc.-8G>T (n.-8G>T)
gnomAD v4
17g.39665353A>CCA2637632132TCAPc.-7A>C (n.-7A>C)
gnomAD v4
17g.39665354G>CCA2809442561TCAPc.-6G>C (n.-6G>C)
17g.39665355T>ACA983629117TCAPc.-5T>A (n.-5T>A)
dbSNP gnomAD v3 gnomAD v4
17g.39665355T=CA2259200490TCAPc.-5T= (n.-5T=)
17g.39665356G>CCA983629118TCAPc.-4G>C (n.-4G>C)
dbSNP gnomAD v3 gnomAD v4
17g.39665356G=CA2259200491TCAPc.-4G= (n.-4G=)
17g.39665359delCA2637632133TCAPc.-1del (n.-1del)
gnomAD v4
17g.39665359C>GCA2637632134TCAPc.-1C>G (n.-1C>G)
gnomAD v4
17g.39665360A=CA2259200492TCAPc.1A= (p.Met1=)
17g.39665360A>CCA399302697TCAPc.1A>C (p.Met1Leu)
17g.39665360A>GCA399302695TCAPc.1A>G (p.Met1Val)
ClinVar dbSNP
17g.39665360A>TCA399302696TCAPc.1A>T (p.Met1Leu)
dbSNP gnomAD v4
17g.39665361T>ACA399302698TCAPc.2T>A (p.Met1Lys)
17g.39665361T>CCA399302699TCAPc.2T>C (p.Met1Thr)
17g.39665361T>GCA399302700TCAPc.2T>G (p.Met1Arg)
17g.39665362G>ACA399302701TCAPc.3G>A (p.Met1Ile)
17g.39665362G>CCA399302702TCAPc.3G>C (p.Met1Ile)
17g.39665362G>TCA399302703TCAPc.3G>T (p.Met1Ile)
17g.39665363G>ACA399302704TCAPc.4G>A (p.Ala2Thr)
gnomAD v4
17g.39665363G>CCA399302705TCAPc.4G>C (p.Ala2Pro)
17g.39665363G>TCA399302706TCAPc.4G>T (p.Ala2Ser)
17g.39665364C>ACA399302707TCAPc.5C>A (p.Ala2Asp)
17g.39665364C=CA2259200493TCAPc.5C= (p.Ala2=)
17g.39665364C>GCA399302708TCAPc.5C>G (p.Ala2Gly)
17g.39665364C>TCA8532815TCAPc.5C>T (p.Ala2Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665365T>ACA499670323TCAPc.6T>A (p.Ala2=)
COSMIC
17g.39665365T>CCA499670324TCAPc.6T>C (p.Ala2=)
17g.39665365T>GCA499670325TCAPc.6T>G (p.Ala2=)
17g.39665366A=CA2259200494TCAPc.7A= (p.Thr3=)
17g.39665366A>CCA399302709TCAPc.7A>C (p.Thr3Pro)
17g.39665366A>GCA399302711TCAPc.7A>G (p.Thr3Ala)
dbSNP
17g.39665366A>TCA399302710TCAPc.7A>T (p.Thr3Ser)
17g.39665367C>ACA8532816TCAPc.8C>A (p.Thr3Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665367C=CA2259200495TCAPc.8C= (p.Thr3=)
17g.39665367C>GCA399302712TCAPc.8C>G (p.Thr3Ser)
17g.39665367C>TCA399302713TCAPc.8C>T (p.Thr3Ile)
gnomAD v4
17g.39665368C>ACA499670326TCAPc.9C>A (p.Thr3=)
17g.39665368C>GCA499670327TCAPc.9C>G (p.Thr3=)
17g.39665368C>TCA499670328TCAPc.9C>T (p.Thr3=)
COSMIC
17g.39665369T>ACA399302714TCAPc.10T>A (p.Ser4Thr)
17g.39665369T>CCA399302715TCAPc.10T>C (p.Ser4Pro)
dbSNP
17g.39665369T>GCA399302716TCAPc.10T>G (p.Ser4Ala)
17g.39665369T=CA2259200496TCAPc.10T= (p.Ser4=)
17g.39665370C>ACA399302717TCAPc.11C>A (p.Ser4Ter)
17g.39665370C>GCA399302718TCAPc.11C>G (p.Ser4Ter)
gnomAD v4
17g.39665370C>TCA399302719TCAPc.11C>T (p.Ser4Leu)
gnomAD v4
17g.39665370_39665372delinsCAGCA2259200497TCAPc.11_13delinsCAG (p.Ser4=)
17g.39665371A>CCA499670329TCAPc.12A>C (p.Ser4=)
gnomAD v4
17g.39665371A>GCA499670330TCAPc.12A>G (p.Ser4=)
gnomAD v4
17g.39665371A>TCA499670331TCAPc.12A>T (p.Ser4=)
17g.39665373_39665374delCA8532817TCAPc.14_15del (p.Glu5AlafsTer11)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665372G>ACA399302720TCAPc.13G>A (p.Glu5Lys)
17g.39665372G>CCA399302721TCAPc.13G>C (p.Glu5Gln)
17g.39665372G>TCA399302722TCAPc.13G>T (p.Glu5Ter)
17g.39665373A>CCA399302723TCAPc.14A>C (p.Glu5Ala)
17g.39665373A>GCA399302725TCAPc.14A>G (p.Glu5Gly)
ClinVar gnomAD v4
17g.39665373A>TCA399302724TCAPc.14A>T (p.Glu5Val)
17g.39665374G>ACA499670332TCAPc.15G>A (p.Glu5=)
17g.39665374G>CCA399302726TCAPc.15G>C (p.Glu5Asp)
dbSNP gnomAD v4
17g.39665374G>TCA399302727TCAPc.15G>T (p.Glu5Asp)
17g.39665375C>ACA134917TCAPc.16C>A (p.Leu6Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665375C=CA2259200498TCAPc.16C= (p.Leu6=)
17g.39665375C>GCA399302728TCAPc.16C>G (p.Leu6Val)
17g.39665375C>TCA499670333TCAPc.16C>T (p.Leu6=)
gnomAD v4
17g.39665376T>ACA399302729TCAPc.17T>A (p.Leu6Gln)
17g.39665376T>CCA399302730TCAPc.17T>C (p.Leu6Pro)
17g.39665376T>GCA399302731TCAPc.17T>G (p.Leu6Arg)
gnomAD v4
17g.39665377G>ACA499670336TCAPc.18G>A (p.Leu6=)
17g.39665377G>CCA499670334TCAPc.18G>C (p.Leu6=)
17g.39665377G>TCA499670335TCAPc.18G>T (p.Leu6=)
17g.39665378A>CCA399302732TCAPc.19A>C (p.Ser7Arg)
17g.39665378A>GCA399302733TCAPc.19A>G (p.Ser7Gly)
ClinVar gnomAD v4
17g.39665378A>TCA399302734TCAPc.19A>T (p.Ser7Cys)
17g.39665379G>ACA399302737TCAPc.20G>A (p.Ser7Asn)
gnomAD v4
17g.39665379G>CCA399302736TCAPc.20G>C (p.Ser7Thr)
17g.39665379G>TCA399302735TCAPc.20G>T (p.Ser7Ile)
17g.39665380C>ACA399302738TCAPc.21C>A (p.Ser7Arg)
17g.39665380C>GCA399302739TCAPc.21C>G (p.Ser7Arg)
gnomAD v4
17g.39665380C>TCA499670337TCAPc.21C>T (p.Ser7=)
17g.39665381T>ACA399302740TCAPc.22T>A (p.Cys8Ser)
ClinVar dbSNP
17g.39665381T>CCA399302741TCAPc.22T>C (p.Cys8Arg)
ClinVar dbSNP
17g.39665381T>GCA399302742TCAPc.22T>G (p.Cys8Gly)
17g.39665381T=CA2259200499TCAPc.22T= (p.Cys8=)
17g.39665382G>ACA399302743TCAPc.23G>A (p.Cys8Tyr)
17g.39665382G>CCA399302744TCAPc.23G>C (p.Cys8Ser)
gnomAD v4
17g.39665382G=CA2259200500TCAPc.23G= (p.Cys8=)
17g.39665382G>TCA290433660TCAPc.23G>T (p.Cys8Phe)
ClinVar dbSNP gnomAD v4
17g.39665383C>ACA399302745TCAPc.24C>A (p.Cys8Ter)
17g.39665383C=CA2259200501TCAPc.24C= (p.Cys8=)
17g.39665383C>GCA399302746TCAPc.24C>G (p.Cys8Trp)
dbSNP gnomAD v2 gnomAD v4
17g.39665383C>TCA8532819TCAPc.24C>T (p.Cys8=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665385_39665392dupCA8532818TCAPc.26_33dup (p.Glu12ArgfsTer20)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665384G>ACA399302749TCAPc.25G>A (p.Glu9Lys)
dbSNP gnomAD v2 gnomAD v4
17g.39665384G>CCA399302748TCAPc.25G>C (p.Glu9Gln)
gnomAD v4
17g.39665384G=CA2259200502TCAPc.25G= (p.Glu9=)
17g.39665384G>TCA399302747TCAPc.25G>T (p.Glu9Ter)
ClinVar
17g.39665384_39665390dupCA278947TCAPc.25_31dup (p.Ser11Ter)
ClinVar dbSNP
17g.39665388_39665396delCA2576253829TCAPc.29_37del (p.Val10_Glu12del)
17g.39665385A>CCA399302750TCAPc.26A>C (p.Glu9Ala)
17g.39665385A>GCA399302751TCAPc.26A>G (p.Glu9Gly)
17g.39665385A>TCA399302752TCAPc.26A>T (p.Glu9Val)
17g.39665386G>ACA499670338TCAPc.27G>A (p.Glu9=)
17g.39665386G>CCA399302753TCAPc.27G>C (p.Glu9Asp)
17g.39665386G>TCA399302755TCAPc.27G>T (p.Glu9Asp)
17g.39665388_39665393dupCA2637632149TCAPc.29_34dup (p.Ser11_Glu12insValSer)
gnomAD v4
17g.39665387G>ACA399302758TCAPc.28G>A (p.Val10Met)
17g.39665387G>CCA399302759TCAPc.28G>C (p.Val10Leu)
17g.39665387G>TCA399302761TCAPc.28G>T (p.Val10Leu)
17g.39665387_39665401delinsGTGTCGGAGGAGAACCA2259200503TCAPc.28_42delinsGTGTCGGAGGAGAAC (p.Val10=)

Number of alleles fetched