Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39665725_39665745dupCA983629406TCAPc.120_140dup (p.Arg47_His48insHisGluGluAspThrGlnArg)
dbSNP gnomAD v3 gnomAD v4
17g.39665734_39665736delCA626209138TCAPc.129_131del (p.Glu43del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665733A>CCA399303517TCAPc.128A>C (p.Glu43Ala)
17g.39665733A>GCA399303522TCAPc.128A>G (p.Glu43Gly)
17g.39665733A>TCA399303519TCAPc.128A>T (p.Glu43Val)
17g.39665734G>ACA499888930TCAPc.129G>A (p.Glu43=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665734G>CCA399303525TCAPc.129G>C (p.Glu43Asp)
17g.39665734G=CA2259200604TCAPc.129G= (p.Glu43=)
17g.39665734G>TCA399303527TCAPc.129G>T (p.Glu43Asp)
17g.39665735G>ACA399303530TCAPc.130G>A (p.Asp44Asn)
ClinVar
17g.39665735G>CCA399303531TCAPc.130G>C (p.Asp44His)
17g.39665735G>TCA399303532TCAPc.130G>T (p.Asp44Tyr)
gnomAD v4
17g.39665736A>CCA399303533TCAPc.131A>C (p.Asp44Ala)
17g.39665736A>GCA399303536TCAPc.131A>G (p.Asp44Gly)
17g.39665736A>TCA399303538TCAPc.131A>T (p.Asp44Val)
17g.39665737C>ACA399303540TCAPc.132C>A (p.Asp44Glu)
17g.39665737C=CA2259200609TCAPc.132C= (p.Asp44=)
17g.39665737C>GCA399303541TCAPc.132C>G (p.Asp44Glu)
17g.39665737C>TCA134914TCAPc.132C>T (p.Asp44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665738A>CCA399303557TCAPc.133A>C (p.Thr45Pro)
17g.39665738A>GCA399303552TCAPc.133A>G (p.Thr45Ala)
17g.39665738A>TCA399303554TCAPc.133A>T (p.Thr45Ser)
17g.39665739C>ACA399303564TCAPc.134C>A (p.Thr45Asn)
17g.39665739C=CA2259200610TCAPc.134C= (p.Thr45=)
17g.39665739C>GCA399303567TCAPc.134C>G (p.Thr45Ser)
17g.39665739C>TCA399303570TCAPc.134C>T (p.Thr45Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665740C>ACA499888935TCAPc.135C>A (p.Thr45=)
dbSNP
17g.39665740C=CA2259200611TCAPc.135C= (p.Thr45=)
17g.39665740C>GCA499888936TCAPc.135C>G (p.Thr45=)
gnomAD v4
17g.39665740C>TCA499888937TCAPc.135C>T (p.Thr45=)
gnomAD v4
17g.39665740_39665742delinsCCACA2259200612TCAPc.135_137delinsCCA (p.Thr45=)
17g.39665741C>ACA399303574TCAPc.136C>A (p.Gln46Lys)
gnomAD v4
17g.39665741C=CA2259200613TCAPc.136C= (p.Gln46=)
17g.39665741C>GCA399303578TCAPc.136C>G (p.Gln46Glu)
dbSNP
17g.39665741C>TCA399303582TCAPc.136C>T (p.Gln46Ter)
17g.39665741_39665742delCA916080659TCAPc.136_137del (p.Gln46GlufsTer3)
ClinVar dbSNP
17g.39665742A=CA2259200614TCAPc.137A= (p.Gln46=)
17g.39665742A>CCA399303585TCAPc.137A>C (p.Gln46Pro)
17g.39665742A>GCA399303587TCAPc.137A>G (p.Gln46Arg)
ClinVar dbSNP gnomAD v4
17g.39665742A>TCA399303592TCAPc.137A>T (p.Gln46Leu)
17g.39665743G>ACA499888942TCAPc.138G>A (p.Gln46=)
17g.39665743G>CCA399303596TCAPc.138G>C (p.Gln46His)
17g.39665743G>TCA399303598TCAPc.138G>T (p.Gln46His)
17g.39665744A=CA2259200615TCAPc.139A= (p.Arg47=)
17g.39665744A>CCA8532861TCAPc.139A>C (p.Arg47=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665744A>GCA399303608TCAPc.139A>G (p.Arg47Gly)
17g.39665744A>TCA399303605TCAPc.139A>T (p.Arg47Ter)
17g.39665745G>ACA399303612TCAPc.140G>A (p.Arg47Lys)
COSMIC
17g.39665745G>CCA399303613TCAPc.140G>C (p.Arg47Thr)
17g.39665745G=CA2259200616TCAPc.140G= (p.Arg47=)
17g.39665745G>TCA399303614TCAPc.140G>T (p.Arg47Ile)
dbSNP
17g.39665746A=CA2259200617TCAPc.141A= (p.Arg47=)
17g.39665746A>CCA399303616TCAPc.141A>C (p.Arg47Ser)
17g.39665746A>GCA499888946TCAPc.141A>G (p.Arg47=)
dbSNP
17g.39665746A>TCA399303617TCAPc.141A>T (p.Arg47Ser)
17g.39665747C>ACA399303620TCAPc.142C>A (p.His48Asn)
17g.39665747C>GCA399303623TCAPc.142C>G (p.His48Asp)
17g.39665747C>TCA399303627TCAPc.142C>T (p.His48Tyr)
17g.39665748A=CA2259200618TCAPc.143A= (p.His48=)
17g.39665748A>CCA399303632TCAPc.143A>C (p.His48Pro)
17g.39665748A>GCA8532862TCAPc.143A>G (p.His48Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665748A>TCA399303637TCAPc.143A>T (p.His48Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665749T>ACA399303641TCAPc.144T>A (p.His48Gln)
gnomAD v4
17g.39665749T>CCA499888954TCAPc.144T>C (p.His48=)
dbSNP gnomAD v3 gnomAD v4
17g.39665749T>GCA399303647TCAPc.144T>G (p.His48Gln)
gnomAD v4
17g.39665749T=CA2259200620TCAPc.144T= (p.His48=)
17g.39665750G>ACA8532863TCAPc.145G>A (p.Glu49Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665750G>CCA399303657TCAPc.145G>C (p.Glu49Gln)
17g.39665750G=CA2259200623TCAPc.145G= (p.Glu49=)
17g.39665750G>TCA399303653TCAPc.145G>T (p.Glu49Ter)
COSMIC
17g.39665751A=CA2259200625TCAPc.146A= (p.Glu49=)
17g.39665751A>CCA399303672TCAPc.146A>C (p.Glu49Ala)
17g.39665751A>GCA290433983TCAPc.146A>G (p.Glu49Gly)
dbSNP
17g.39665751A>TCA399303677TCAPc.146A>T (p.Glu49Val)
17g.39665752G>ACA499888956TCAPc.147G>A (p.Glu49=)
17g.39665752G>CCA399303680TCAPc.147G>C (p.Glu49Asp)
17g.39665752G>TCA399303684TCAPc.147G>T (p.Glu49Asp)
17g.39665752_39665756delinsGACCTCA2259200626TCAPc.147_151delinsGACCT (p.Glu49=)
17g.39665753A=CA2259200627TCAPc.148A= (p.Thr50=)
17g.39665753A>CCA399303689TCAPc.148A>C (p.Thr50Pro)
17g.39665753A>GCA399303692TCAPc.148A>G (p.Thr50Ala)
ClinVar dbSNP gnomAD v4
17g.39665753A>TCA399303697TCAPc.148A>T (p.Thr50Ser)
17g.39665756_39665759delCA983629449TCAPc.151_154del (p.Tyr51ThrfsTer16)
c.151_154del (p.Tyr51ThrfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.39665754C>ACA399303701TCAPc.149C>A (p.Thr50Asn)
17g.39665754C=CA2259200628TCAPc.149C= (p.Thr50=)
17g.39665754C>GCA399303704TCAPc.149C>G (p.Thr50Ser)
17g.39665754C>TCA399303708TCAPc.149C>T (p.Thr50Ile)
dbSNP
17g.39665755C>ACA499888962TCAPc.150C>A (p.Thr50=)
gnomAD v4
17g.39665755C>GCA499888963TCAPc.150C>G (p.Thr50=)
17g.39665755C>TCA499888961TCAPc.150C>T (p.Thr50=)
17g.39665756T>ACA399303717TCAPc.151T>A (p.Tyr51Asn)
17g.39665756T>CCA8532864TCAPc.151T>C (p.Tyr51His)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665756T>GCA399303722TCAPc.151T>G (p.Tyr51Asp)
17g.39665756T=CA2259200630TCAPc.151T= (p.Tyr51=)
17g.39665757A=CA2259200633TCAPc.152A= (p.Tyr51=)
17g.39665757A>CCA399303736TCAPc.152A>C (p.Tyr51Ser)
dbSNP
17g.39665757A>GCA399303733TCAPc.152A>G (p.Tyr51Cys)
gnomAD v4
17g.39665757A>TCA8532865TCAPc.152A>T (p.Tyr51Phe)
dbSNP ExAC
17g.39665757_39665758insAACA2637632568TCAPc.152_153insAA (p.Tyr51Ter)
gnomAD v4
17g.39665758C>ACA8532866TCAPc.153C>A (p.Tyr51Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665758C=CA2259200636TCAPc.153C= (p.Tyr51=)
17g.39665758C>GCA399303739TCAPc.153C>G (p.Tyr51Ter)
17g.39665758C>TCA499889081TCAPc.153C>T (p.Tyr51=)
17g.39665759C>ACA399303751TCAPc.154C>A (p.His52Asn)
17g.39665759C=CA2259200638TCAPc.154C= (p.His52=)
17g.39665759C>GCA8532867TCAPc.154C>G (p.His52Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665759C>TCA399303759TCAPc.154C>T (p.His52Tyr)
17g.39665760A=CA2259200641TCAPc.155A= (p.His52=)
17g.39665760A>CCA399303763TCAPc.155A>C (p.His52Pro)
17g.39665760A>GCA399303768TCAPc.155A>G (p.His52Arg)
dbSNP gnomAD v2 gnomAD v4
17g.39665760A>TCA399303765TCAPc.155A>T (p.His52Leu)
17g.39665761C>ACA399303770TCAPc.156C>A (p.His52Gln)
gnomAD v4
17g.39665761C>GCA399303773TCAPc.156C>G (p.His52Gln)
17g.39665761C>TCA499889082TCAPc.156C>T (p.His52=)
gnomAD v4
17g.39665762C>ACA399303779TCAPc.157C>A (p.Gln53Lys)
gnomAD v4 COSMIC
17g.39665762C=CA2259200643TCAPc.157C= (p.Gln53=)
17g.39665762C>GCA399303781TCAPc.157C>G (p.Gln53Glu)
17g.39665762C>TCA117567TCAPc.157C>T (p.Gln53Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.39665763A=CA2259200645TCAPc.158A= (p.Gln53=)
17g.39665763A>CCA399303786TCAPc.158A>C (p.Gln53Pro)
17g.39665763A>GCA399303788TCAPc.158A>G (p.Gln53Arg)
dbSNP
17g.39665763A>TCA399303790TCAPc.158A>T (p.Gln53Leu)
17g.39665764G>ACA499889083TCAPc.159G>A (p.Gln53=)
17g.39665764G>CCA399303794TCAPc.159G>C (p.Gln53His)
17g.39665764G>TCA399303797TCAPc.159G>T (p.Gln53His)
gnomAD v4
17g.39665765C>ACA399303807TCAPc.160C>A (p.Gln54Lys)
gnomAD v4
17g.39665765C>GCA399303806TCAPc.160C>G (p.Gln54Glu)
17g.39665765C>TCA399303804TCAPc.160C>T (p.Gln54Ter)
17g.39665766A=CA2259200647TCAPc.161A= (p.Gln54=)
17g.39665766A>CCA399303808TCAPc.161A>C (p.Gln54Pro)
17g.39665766A>GCA399303809TCAPc.161A>G (p.Gln54Arg)
17g.39665766A>TCA399303810TCAPc.161A>T (p.Gln54Leu)
17g.39665767G>ACA499889084TCAPc.162G>A (p.Gln54=)
gnomAD v4
17g.39665767G>CCA399303813TCAPc.162G>C (p.Gln54His)
17g.39665767G>TCA399303818TCAPc.162G>T (p.Gln54His)
17g.39665770dupCA2259200650TCAPc.165dup (p.Gln56AlafsTer?)
c.165dup (p.Gln56AlafsTer28)
dbSNP
17g.39665769_39665786dupCA626209139TCAPc.164_181dup (p.Leu60_Val61insGlyGlnCysGlnValLeu)
c.164_174+7dup
dbSNP gnomAD v2 gnomAD v4
17g.39665768G>ACA399303820TCAPc.163G>A (p.Gly55Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665768G>CCA399303822TCAPc.163G>C (p.Gly55Arg)
gnomAD v4
17g.39665768G=CA2259200653TCAPc.163G= (p.Gly55=)
17g.39665768G>TCA399303832TCAPc.163G>T (p.Gly55Trp)
17g.39665769G>ACA399303835TCAPc.164G>A (p.Gly55Glu)
17g.39665769G>CCA399303837TCAPc.164G>C (p.Gly55Ala)
17g.39665769G>TCA399303839TCAPc.164G>T (p.Gly55Val)
gnomAD v4
17g.39665770G>ACA290433989TCAPc.165G>A (p.Gly55=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665770G>CCA499889085TCAPc.165G>C (p.Gly55=)
ClinVar dbSNP gnomAD v4
17g.39665770G=CA2259200654TCAPc.165G= (p.Gly55=)
17g.39665770G>TCA499889086TCAPc.165G>T (p.Gly55=)
17g.39665771C>ACA399303852TCAPc.166C>A (p.Gln56Lys)
17g.39665771C=CA2259200657TCAPc.166C= (p.Gln56=)
17g.39665771C>GCA399303850TCAPc.166C>G (p.Gln56Glu)
17g.39665771C>TCA399303846TCAPc.166C>T (p.Gln56Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665772A>CCA399303854TCAPc.167A>C (p.Gln56Pro)
gnomAD v4
17g.39665772A>GCA399303856TCAPc.167A>G (p.Gln56Arg)
gnomAD v4
17g.39665772A>TCA399303858TCAPc.167A>T (p.Gln56Leu)
17g.39665773G>ACA16615340TCAPc.168G>A (p.Gln56=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665773G>CCA399303860TCAPc.168G>C (p.Gln56His)
17g.39665773G=CA2259200660TCAPc.168G= (p.Gln56=)
17g.39665773G>TCA399303864TCAPc.168G>T (p.Gln56His)
17g.39665774T>ACA399303867TCAPc.169T>A (p.Cys57Ser)
17g.39665774T>CCA10604666TCAPc.169T>C (p.Cys57Arg)
ClinVar dbSNP gnomAD v4
17g.39665774T>GCA399303870TCAPc.169T>G (p.Cys57Gly)
17g.39665774T=CA2259200667TCAPc.169T= (p.Cys57=)
17g.39665775G>ACA8532868TCAPc.170G>A (p.Cys57Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665775G>CCA399303875TCAPc.170G>C (p.Cys57Ser)
17g.39665775G=CA2259200678TCAPc.170G= (p.Cys57=)
17g.39665775G>TCA399303878TCAPc.170G>T (p.Cys57Phe)
17g.39665776C>ACA290433996TCAPc.171C>A (p.Cys57Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665776C=CA2259200683TCAPc.171C= (p.Cys57=)
17g.39665776C>GCA8532869TCAPc.171C>G (p.Cys57Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665776C>TCA499889087TCAPc.171C>T (p.Cys57=)
dbSNP
17g.39665777C>ACA399303884TCAPc.172C>A (p.Gln58Lys)
gnomAD v4
17g.39665777C>GCA399303887TCAPc.172C>G (p.Gln58Glu)
ClinVar gnomAD v4
17g.39665777C>TCA399303885TCAPc.172C>T (p.Gln58Ter)
17g.39665778A=CA2259200687TCAPc.173A= (p.Gln58=)
17g.39665778A>CCA399303892TCAPc.173A>C (p.Gln58Pro)
17g.39665778A>GCA399303895TCAPc.173A>G (p.Gln58Arg)
dbSNP
17g.39665778A>TCA399303897TCAPc.173A>T (p.Gln58Leu)
17g.39665779G>ACA499889088TCAPc.174G>A (p.Gln58=)
17g.39665779G>CCA399303903TCAPc.174G>C (p.Gln58His)
17g.39665779G>TCA399303910TCAPc.174G>T (p.Gln58His)
17g.39665780G>ACA16620401TCAPc.175G>A (p.Val59Met)
c.174+1G>A (n.174+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665780G>CCA399303914TCAPc.175G>C (p.Val59Leu)
c.174+1G>C (n.174+1G>C)
17g.39665780G=CA2259200692TCAPc.175G= (p.Val59=)
c.174+1G= (n.174+1G=)
17g.39665780G>TCA399303915TCAPc.175G>T (p.Val59Leu)
c.174+1G>T (n.174+1G>T)
gnomAD v4
17g.39665781T>ACA399303917TCAPc.176T>A (p.Val59Glu)
c.174+2T>A (n.174+2T>A)
17g.39665781T>CCA399303919TCAPc.176T>C (p.Val59Ala)
c.174+2T>C (n.174+2T>C)
dbSNP COSMIC
17g.39665781T>GCA399303920TCAPc.176T>G (p.Val59Gly)
c.174+2T>G (n.174+2T>G)
17g.39665781T=CA2259200697TCAPc.176T= (p.Val59=)
c.174+2T= (n.174+2T=)
17g.39665782G>ACA499889089TCAPc.177G>A (p.Val59=)
c.174+3G>A (n.174+3G>A)
gnomAD v4
17g.39665782G>CCA499889090TCAPc.177G>C (p.Val59=)
c.174+3G>C (n.174+3G>C)
dbSNP
17g.39665782G=CA2259200700TCAPc.177G= (p.Val59=)
c.174+3G= (n.174+3G=)
17g.39665782G>TCA499889091TCAPc.177G>T (p.Val59=)
c.174+3G>T (n.174+3G>T)
17g.39665783C>ACA399303925TCAPc.178C>A (p.Leu60Met)
c.174+4C>A (n.174+4C>A)
gnomAD v4
17g.39665783C=CA2259200703TCAPc.178C= (p.Leu60=)
c.174+4C= (n.174+4C=)
17g.39665783C>GCA399303926TCAPc.178C>G (p.Leu60Val)
c.174+4C>G (n.174+4C>G)
ClinVar dbSNP gnomAD v4
17g.39665783C>TCA8532870TCAPc.178C>T (p.Leu60=)
c.174+4C>T (n.174+4C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665784T>ACA399303927TCAPc.179T>A (p.Leu60Gln)
c.174+5T>A (n.174+5T>A)
17g.39665784T>CCA399303928TCAPc.179T>C (p.Leu60Pro)
c.174+5T>C (n.174+5T>C)
17g.39665784T>GCA399303931TCAPc.179T>G (p.Leu60Arg)
c.174+5T>G (n.174+5T>G)
17g.39665785G>ACA499889093TCAPc.180G>A (p.Leu60=)
c.174+6G>A (n.174+6G>A)
17g.39665785G>CCA499889092TCAPc.180G>C (p.Leu60=)
c.174+6G>C (n.174+6G>C)
17g.39665785G>TCA499889094TCAPc.180G>T (p.Leu60=)
c.174+6G>T (n.174+6G>T)
gnomAD v4
17g.39665786G>ACA399303933TCAPc.181G>A (p.Val61Met)
c.174+7G>A (n.174+7G>A)
17g.39665786G>CCA399303937TCAPc.181G>C (p.Val61Leu)
c.174+7G>C (n.174+7G>C)
17g.39665786G>TCA399303941TCAPc.181G>T (p.Val61Leu)
c.174+7G>T (n.174+7G>T)
gnomAD v4
17g.39665787T>ACA399303944TCAPc.182T>A (p.Val61Glu)
c.174+8T>A (n.174+8T>A)
17g.39665787T>CCA399303947TCAPc.182T>C (p.Val61Ala)
c.174+8T>C (n.174+8T>C)
17g.39665787T>GCA399303948TCAPc.182T>G (p.Val61Gly)
c.174+8T>G (n.174+8T>G)
17g.39665788G>ACA499889095TCAPc.183G>A (p.Val61=)
c.174+9G>A (n.174+9G>A)
dbSNP
17g.39665788G>CCA499889096TCAPc.183G>C (p.Val61=)
c.174+9G>C (n.174+9G>C)
17g.39665788G=CA2259200706TCAPc.183G= (p.Val61=)
c.174+9G= (n.174+9G=)
17g.39665788G>TCA499889097TCAPc.183G>T (p.Val61=)
c.174+9G>T (n.174+9G>T)
17g.39665789C>ACA399303952TCAPc.184C>A (p.Gln62Lys)
c.174+10C>A (n.174+10C>A)
17g.39665789C>GCA399303956TCAPc.184C>G (p.Gln62Glu)
c.174+10C>G (n.174+10C>G)
17g.39665789C>TCA399303960TCAPc.184C>T (p.Gln62Ter)
c.174+10C>T (n.174+10C>T)
ClinVar gnomAD v4
17g.39665790A>CCA399303965TCAPc.185A>C (p.Gln62Pro)
c.174+11A>C (n.174+11A>C)
17g.39665790A>GCA399303968TCAPc.185A>G (p.Gln62Arg)
c.174+11A>G (n.174+11A>G)
gnomAD v4
17g.39665790A>TCA399303969TCAPc.185A>T (p.Gln62Leu)
c.174+11A>T (n.174+11A>T)
17g.39665791G>ACA499889098TCAPc.186G>A (p.Gln62=)
c.174+12G>A (n.174+12G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665791G>CCA399303970TCAPc.186G>C (p.Gln62His)
c.174+12G>C (n.174+12G>C)
17g.39665791G=CA2259200709TCAPc.186G= (p.Gln62=)
c.174+12G= (n.174+12G=)
17g.39665791G>TCA399303971TCAPc.186G>T (p.Gln62His)
c.174+12G>T (n.174+12G>T)
17g.39665792C>ACA399303972TCAPc.187C>A (p.Arg63Ser)
c.174+13C>A (n.174+13C>A)
gnomAD v4
17g.39665792C=CA2259200713TCAPc.187C= (p.Arg63=)
c.174+13C= (n.174+13C=)
17g.39665792C>GCA399303974TCAPc.187C>G (p.Arg63Gly)
c.174+13C>G (n.174+13C>G)
17g.39665792C>TCA8532871TCAPc.187C>T (p.Arg63Cys)
c.174+13C>T (n.174+13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665793G>ACA8532872TCAPc.188G>A (p.Arg63His)
c.174+14G>A (n.174+14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665793G>CCA399303989TCAPc.188G>C (p.Arg63Pro)
c.174+14G>C (n.174+14G>C)
17g.39665793G=CA2259200717TCAPc.188G= (p.Arg63=)
c.174+14G= (n.174+14G=)
17g.39665793G>TCA399303996TCAPc.188G>T (p.Arg63Leu)
c.174+14G>T (n.174+14G>T)
17g.39665794C>ACA499889099TCAPc.189C>A (p.Arg63=)
c.174+15C>A (n.174+15C>A)
17g.39665794C=CA2259200719TCAPc.189C= (p.Arg63=)
c.174+15C= (n.174+15C=)
17g.39665794C>GCA499889100TCAPc.189C>G (p.Arg63=)
c.174+15C>G (n.174+15C>G)
17g.39665794C>TCA499889101TCAPc.189C>T (p.Arg63=)
c.174+15C>T (n.174+15C>T)
dbSNP gnomAD v3 gnomAD v4
17g.39665795T>ACA399304001TCAPc.190T>A (p.Ser64Thr)
c.174+16T>A (n.174+16T>A)
gnomAD v4
17g.39665795T>CCA399304004TCAPc.190T>C (p.Ser64Pro)
c.174+16T>C (n.174+16T>C)
gnomAD v4
17g.39665795T>GCA399304008TCAPc.190T>G (p.Ser64Ala)
c.174+16T>G (n.174+16T>G)
17g.39665796C>ACA399304018TCAPc.191C>A (p.Ser64Ter)
c.174+17C>A (n.174+17C>A)
17g.39665796C=CA2259200722TCAPc.191C= (p.Ser64=)
c.174+17C= (n.174+17C=)
17g.39665796C>GCA399304021TCAPc.191C>G (p.Ser64Trp)
c.174+17C>G (n.174+17C>G)
17g.39665796C>TCA282448TCAPc.191C>T (p.Ser64Leu)
c.174+17C>T (n.174+17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665797G>ACA8532873TCAPc.192G>A (p.Ser64=)
c.174+18G>A (n.174+18G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665797G>CCA499889103TCAPc.192G>C (p.Ser64=)
c.174+18G>C (n.174+18G>C)
dbSNP
17g.39665797G=CA2259200730TCAPc.192G= (p.Ser64=)
c.174+18G= (n.174+18G=)
17g.39665797G>TCA499889102TCAPc.192G>T (p.Ser64=)
c.174+18G>T (n.174+18G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665798C>ACA399304029TCAPc.193C>A (p.Pro65Thr)
c.174+19C>A (n.174+19C>A)
17g.39665798C>GCA399304035TCAPc.193C>G (p.Pro65Ala)
c.174+19C>G (n.174+19C>G)
17g.39665798C>TCA399304031TCAPc.193C>T (p.Pro65Ser)
c.174+19C>T (n.174+19C>T)
17g.39665800delCA2637632657TCAPc.195del (p.Trp66GlyfsTer2)
c.174+21del (n.174+21del)
gnomAD v4
17g.39665799C>ACA399304040TCAPc.194C>A (p.Pro65His)
c.174+20C>A (n.174+20C>A)
17g.39665799C=CA2259200736TCAPc.194C= (p.Pro65=)
c.174+20C= (n.174+20C=)
17g.39665799C>GCA399304042TCAPc.194C>G (p.Pro65Arg)
c.174+20C>G (n.174+20C>G)
17g.39665799C>TCA399304044TCAPc.194C>T (p.Pro65Leu)
c.174+20C>T (n.174+20C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.39665800C>ACA499889104TCAPc.195C>A (p.Pro65=)
c.174+21C>A (n.174+21C>A)
dbSNP
17g.39665800C=CA2259200742TCAPc.195C= (p.Pro65=)
c.174+21C= (n.174+21C=)
17g.39665800C>GCA16608409TCAPc.195C>G (p.Pro65=)
c.174+21C>G (n.174+21C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665800C>TCA499889105TCAPc.195C>T (p.Pro65=)
c.174+21C>T (n.174+21C>T)
ClinVar gnomAD v4
17g.39665801delCA2637632663TCAPc.196del (p.Trp66GlyfsTer2)
c.174+22del (n.174+22del)
gnomAD v4
17g.39665801T>ACA399304048TCAPc.196T>A (p.Trp66Arg)
c.174+22T>A (n.174+22T>A)
17g.39665801T>CCA399304049TCAPc.196T>C (p.Trp66Arg)
c.174+22T>C (n.174+22T>C)
17g.39665801T>GCA399304050TCAPc.196T>G (p.Trp66Gly)
c.174+22T>G (n.174+22T>G)
17g.39665802G>ACA399304052TCAPc.197G>A (p.Trp66Ter)
c.174+23G>A (n.174+23G>A)
gnomAD v4
17g.39665802G>CCA399304053TCAPc.197G>C (p.Trp66Ser)
c.174+23G>C (n.174+23G>C)
17g.39665802G>TCA399304054TCAPc.197G>T (p.Trp66Leu)
c.174+23G>T (n.174+23G>T)
17g.39665803G>ACA399304056TCAPc.198G>A (p.Trp66Ter)
c.174+24G>A (n.174+24G>A)
gnomAD v4
17g.39665803G>CCA8532874TCAPc.198G>C (p.Trp66Cys)
c.174+24G>C (n.174+24G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665803G=CA2259200745TCAPc.198G= (p.Trp66=)
c.174+24G= (n.174+24G=)
17g.39665803G>TCA399304059TCAPc.198G>T (p.Trp66Cys)
c.174+24G>T (n.174+24G>T)
17g.39665804C>ACA399304105TCAPc.199C>A (p.Leu67Met)
c.174+25C>A (n.174+25C>A)
17g.39665804C=CA2259200749TCAPc.199C= (p.Leu67=)
c.174+25C= (n.174+25C=)
17g.39665804C>GCA399304098TCAPc.199C>G (p.Leu67Val)
c.174+25C>G (n.174+25C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665804C>TCA8532875TCAPc.199C>T (p.Leu67=)
c.174+25C>T (n.174+25C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665805T>ACA399304109TCAPc.200T>A (p.Leu67Gln)
c.174+26T>A (n.174+26T>A)
17g.39665805T>CCA399304111TCAPc.200T>C (p.Leu67Pro)
c.174+26T>C (n.174+26T>C)
17g.39665805T>GCA399304116TCAPc.200T>G (p.Leu67Arg)
c.174+26T>G (n.174+26T>G)
17g.39665810_39665812delCA2580613272TCAPc.205_207del (p.Met69del)
c.174+31_174+33del (n.174+31_174+33del)
ClinVar dbSNP
17g.39665806G>ACA499889108TCAPc.201G>A (p.Leu67=)
c.174+27G>A (n.174+27G>A)
ClinVar dbSNP
17g.39665806G>CCA499889106TCAPc.201G>C (p.Leu67=)
c.174+27G>C (n.174+27G>C)
COSMIC
17g.39665806G=CA2259200753TCAPc.201G= (p.Leu67=)
c.174+27G= (n.174+27G=)
17g.39665806G>TCA499889107TCAPc.201G>T (p.Leu67=)
c.174+27G>T (n.174+27G>T)
17g.39665807A=CA2259200757TCAPc.202A= (p.Met68=)
c.174+28A= (n.174+28A=)
17g.39665807A>CCA399304122TCAPc.202A>C (p.Met68Leu)
c.174+28A>C (n.174+28A>C)
17g.39665807A>GCA399304125TCAPc.202A>G (p.Met68Val)
c.174+28A>G (n.174+28A>G)
ClinVar dbSNP gnomAD v4
17g.39665807A>TCA8532876TCAPc.202A>T (p.Met68Leu)
c.174+28A>T (n.174+28A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665808T>ACA399304146TCAPc.203T>A (p.Met68Lys)
c.174+29T>A (n.174+29T>A)
17g.39665808T>CCA399304150TCAPc.203T>C (p.Met68Thr)
c.174+29T>C (n.174+29T>C)
dbSNP
17g.39665808T>GCA399304160TCAPc.203T>G (p.Met68Arg)
c.174+29T>G (n.174+29T>G)
17g.39665808T=CA2259200758TCAPc.203T= (p.Met68=)
c.174+29T= (n.174+29T=)
17g.39665808_39665814delinsTGATGCGCA2259200759TCAPc.203_209delinsTGATGCG (p.Met68=)
c.174+29_174+35delinsTGATGCG (n.174+29_174+35delinsTGATGCG)
17g.39665809G>ACA399304161TCAPc.204G>A (p.Met68Ile)
c.174+30G>A (n.174+30G>A)
ClinVar dbSNP gnomAD v2
17g.39665809G>CCA399304162TCAPc.204G>C (p.Met68Ile)
c.174+30G>C (n.174+30G>C)
17g.39665809G=CA2259200761TCAPc.204G= (p.Met68=)
c.174+30G= (n.174+30G=)
17g.39665809G>TCA399304163TCAPc.204G>T (p.Met68Ile)
c.174+30G>T (n.174+30G>T)
gnomAD v4
17g.39665813_39665818delCA2259200760TCAPc.208_213del (p.Arg70_Met71del)
c.174+34_175-34del (n.174+34_175-34del)
dbSNP
17g.39665810A>CCA399304182TCAPc.205A>C (p.Met69Leu)
c.174+31A>C (n.174+31A>C)
17g.39665810A>GCA399304170TCAPc.205A>G (p.Met69Val)
c.174+31A>G (n.174+31A>G)
17g.39665810A>TCA399304167TCAPc.205A>T (p.Met69Leu)
c.174+31A>T (n.174+31A>T)
17g.39665811T>ACA399304186TCAPc.206T>A (p.Met69Lys)
c.174+32T>A (n.174+32T>A)
17g.39665811T>CCA399304185TCAPc.206T>C (p.Met69Thr)
c.174+32T>C (n.174+32T>C)
17g.39665811T>GCA399304189TCAPc.206T>G (p.Met69Arg)
c.174+32T>G (n.174+32T>G)
17g.39665812G>ACA399304194TCAPc.207G>A (p.Met69Ile)
c.174+33G>A (n.174+33G>A)
gnomAD v4
17g.39665812G>CCA399304203TCAPc.207G>C (p.Met69Ile)
c.174+33G>C (n.174+33G>C)
17g.39665812G>TCA399304199TCAPc.207G>T (p.Met69Ile)
c.174+33G>T (n.174+33G>T)
17g.39665813C>ACA499889109TCAPc.208C>A (p.Arg70=)
c.174+34C>A (n.174+34C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665813C=CA2259200762TCAPc.208C= (p.Arg70=)
c.174+34C= (n.174+34C=)
17g.39665813C>GCA399304207TCAPc.208C>G (p.Arg70Gly)
c.174+34C>G (n.174+34C>G)
17g.39665813C>TCA249987TCAPc.208C>T (p.Arg70Trp)
c.174+34C>T (n.174+34C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665814G>ACA308840TCAPc.209G>A (p.Arg70Gln)
c.174+35G>A (n.174+35G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665814G>CCA399304237TCAPc.209G>C (p.Arg70Pro)
c.174+35G>C (n.174+35G>C)
17g.39665814G=CA2259200763TCAPc.209G= (p.Arg70=)
c.174+35G= (n.174+35G=)
17g.39665814G>TCA399304242TCAPc.209G>T (p.Arg70Leu)
c.174+35G>T (n.174+35G>T)
17g.39665815G>ACA499889112TCAPc.210G>A (p.Arg70=)
c.175-37G>A (n.175-37G>A)
17g.39665815G>CCA499889111TCAPc.210G>C (p.Arg70=)
c.175-37G>C (n.175-37G>C)
dbSNP
17g.39665815G=CA2259200764TCAPc.210G= (p.Arg70=)
c.175-37G= (n.175-37G=)
17g.39665815G>TCA499889110TCAPc.210G>T (p.Arg70=)
c.175-37G>T (n.175-37G>T)
dbSNP gnomAD v3 gnomAD v4
17g.39665816A=CA2259200765TCAPc.211A= (p.Met71=)
c.175-36A= (n.175-36A=)
17g.39665816A>CCA399304248TCAPc.211A>C (p.Met71Leu)
c.175-36A>C (n.175-36A>C)
dbSNP
17g.39665816A>GCA8532877TCAPc.211A>G (p.Met71Val)
c.175-36A>G (n.175-36A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665816A>TCA399304255TCAPc.211A>T (p.Met71Leu)
c.175-36A>T (n.175-36A>T)
17g.39665817T>ACA399304256TCAPc.212T>A (p.Met71Lys)
c.175-35T>A (n.175-35T>A)
17g.39665817T>CCA8532878TCAPc.212T>C (p.Met71Thr)
c.175-35T>C (n.175-35T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665817T>GCA399304260TCAPc.212T>G (p.Met71Arg)
c.175-35T>G (n.175-35T>G)
17g.39665817T=CA2259200766TCAPc.212T= (p.Met71=)
c.175-35T= (n.175-35T=)
17g.39665818G>ACA399304269TCAPc.213G>A (p.Met71Ile)
c.175-34G>A (n.175-34G>A)
gnomAD v4
17g.39665818G>CCA399304268TCAPc.213G>C (p.Met71Ile)
c.175-34G>C (n.175-34G>C)
17g.39665818G>TCA399304266TCAPc.213G>T (p.Met71Ile)
c.175-34G>T (n.175-34G>T)
gnomAD v4
17g.39665819G>ACA399304272TCAPc.214G>A (p.Gly72Ser)
c.175-33G>A (n.175-33G>A)
COSMIC
17g.39665819G>CCA399304274TCAPc.214G>C (p.Gly72Arg)
c.175-33G>C (n.175-33G>C)
17g.39665819G>TCA399304277TCAPc.214G>T (p.Gly72Cys)
c.175-33G>T (n.175-33G>T)
17g.39665820G>ACA290434031TCAPc.215G>A (p.Gly72Asp)
c.175-32G>A (n.175-32G>A)
dbSNP gnomAD v2 gnomAD v4
17g.39665820G>CCA399304279TCAPc.215G>C (p.Gly72Ala)
c.175-32G>C (n.175-32G>C)
17g.39665820G=CA2259200767TCAPc.215G= (p.Gly72=)
c.175-32G= (n.175-32G=)
17g.39665820G>TCA399304285TCAPc.215G>T (p.Gly72Val)
c.175-32G>T (n.175-32G>T)
17g.39665821C>ACA499889114TCAPc.216C>A (p.Gly72=)
c.175-31C>A (n.175-31C>A)
dbSNP
17g.39665821C=CA2259200768TCAPc.216C= (p.Gly72=)
c.175-31C= (n.175-31C=)
17g.39665821C>GCA499889115TCAPc.216C>G (p.Gly72=)
c.175-31C>G (n.175-31C>G)
17g.39665821C>TCA499889113TCAPc.216C>T (p.Gly72=)
c.175-31C>T (n.175-31C>T)
ClinVar dbSNP gnomAD v4
17g.39665822A>CCA399304292TCAPc.217A>C (p.Ile73Leu)
c.175-30A>C (n.175-30A>C)
17g.39665822A>GCA399304295TCAPc.217A>G (p.Ile73Val)
c.175-30A>G (n.175-30A>G)
ClinVar
17g.39665822A>TCA399304299TCAPc.217A>T (p.Ile73Phe)
c.175-30A>T (n.175-30A>T)
17g.39665823T>ACA399304307TCAPc.218T>A (p.Ile73Asn)
c.175-29T>A (n.175-29T>A)
17g.39665823T>CCA8532879TCAPc.218T>C (p.Ile73Thr)
c.175-29T>C (n.175-29T>C)
ClinVar dbSNP ExAC gnomAD v2
17g.39665823T>GCA399304311TCAPc.218T>G (p.Ile73Ser)
c.175-29T>G (n.175-29T>G)
17g.39665823T=CA2259200769TCAPc.218T= (p.Ile73=)
c.175-29T= (n.175-29T=)
17g.39665825_39665827delCA2637632691TCAPc.220_222del (p.Leu74del)
c.175-27_175-25del (n.175-27_175-25del)
gnomAD v4
17g.39665824C>ACA499889117TCAPc.219C>A (p.Ile73=)
c.175-28C>A (n.175-28C>A)
17g.39665824C>GCA399304316TCAPc.219C>G (p.Ile73Met)
c.175-28C>G (n.175-28C>G)
17g.39665824C>TCA499889116TCAPc.219C>T (p.Ile73=)
c.175-28C>T (n.175-28C>T)
17g.39665825C>ACA399304326TCAPc.220C>A (p.Leu74Ile)
c.175-27C>A (n.175-27C>A)
17g.39665825C>GCA399304321TCAPc.220C>G (p.Leu74Val)
c.175-27C>G (n.175-27C>G)
17g.39665825C>TCA399304323TCAPc.220C>T (p.Leu74Phe)
c.175-27C>T (n.175-27C>T)
gnomAD v4
17g.39665826T>ACA290434037TCAPc.221T>A (p.Leu74His)
c.175-26T>A (n.175-26T>A)
dbSNP
17g.39665826T>CCA399304335TCAPc.221T>C (p.Leu74Pro)
c.175-26T>C (n.175-26T>C)
17g.39665826T>GCA399304339TCAPc.221T>G (p.Leu74Arg)
c.175-26T>G (n.175-26T>G)
17g.39665826T=CA2259200770TCAPc.221T= (p.Leu74=)
c.175-26T= (n.175-26T=)
17g.39665827C>ACA499889118TCAPc.222C>A (p.Leu74=)
c.175-25C>A (n.175-25C>A)
17g.39665827C=CA2259200771TCAPc.222C= (p.Leu74=)
c.175-25C= (n.175-25C=)
17g.39665827C>GCA499889119TCAPc.222C>G (p.Leu74=)
c.175-25C>G (n.175-25C>G)
17g.39665827C>TCA8532880TCAPc.222C>T (p.Leu74=)
c.175-25C>T (n.175-25C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665828G>ACA308843TCAPc.223G>A (p.Gly75Ser)
c.175-24G>A (n.175-24G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665828G>CCA399304350TCAPc.223G>C (p.Gly75Arg)
c.175-24G>C (n.175-24G>C)
17g.39665828G=CA2259200772TCAPc.223G= (p.Gly75=)
c.175-24G= (n.175-24G=)
17g.39665828G>TCA399304355TCAPc.223G>T (p.Gly75Cys)
c.175-24G>T (n.175-24G>T)
ClinVar gnomAD v4
17g.39665829G>ACA399304360TCAPc.224G>A (p.Gly75Asp)
c.175-23G>A (n.175-23G>A)
17g.39665829G>CCA399304364TCAPc.224G>C (p.Gly75Ala)
c.175-23G>C (n.175-23G>C)
17g.39665829G>TCA399304368TCAPc.224G>T (p.Gly75Val)
c.175-23G>T (n.175-23G>T)
17g.39665830C>ACA499889120TCAPc.225C>A (p.Gly75=)
c.175-22C>A (n.175-22C>A)
ClinVar
17g.39665830C=CA2259200773TCAPc.225C= (p.Gly75=)
c.175-22C= (n.175-22C=)
17g.39665830C>GCA499889121TCAPc.225C>G (p.Gly75=)
c.175-22C>G (n.175-22C>G)
17g.39665830C>TCA8532881TCAPc.225C>T (p.Gly75=)
c.175-22C>T (n.175-22C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665831C>ACA399304378TCAPc.226C>A (p.Arg76Ser)
c.175-21C>A (n.175-21C>A)
gnomAD v4
17g.39665831C=CA2259200774TCAPc.226C= (p.Arg76=)
c.175-21C= (n.175-21C=)
17g.39665831C>GCA399304379TCAPc.226C>G (p.Arg76Gly)
c.175-21C>G (n.175-21C>G)
17g.39665831C>TCA308846TCAPc.226C>T (p.Arg76Cys)
c.175-21C>T (n.175-21C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665832G>ACA8532882TCAPc.227G>A (p.Arg76His)
c.175-20G>A (n.175-20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665832G>CCA399304383TCAPc.227G>C (p.Arg76Pro)
c.175-20G>C (n.175-20G>C)
17g.39665832G=CA2259200775TCAPc.227G= (p.Arg76=)
c.175-20G= (n.175-20G=)
17g.39665832G>TCA399304384TCAPc.227G>T (p.Arg76Leu)
c.175-20G>T (n.175-20G>T)
17g.39665833T>ACA499889122TCAPc.228T>A (p.Arg76=)
c.175-19T>A (n.175-19T>A)
17g.39665833T>CCA499889124TCAPc.228T>C (p.Arg76=)
c.175-19T>C (n.175-19T>C)
17g.39665833T>GCA499889123TCAPc.228T>G (p.Arg76=)
c.175-19T>G (n.175-19T>G)

Number of alleles fetched