Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41769335_41769381dupCA983789086JUPc.468+39_468+85dup (n.468+39_468+85dup)
c.519+39_519+85dup (n.519+39_519+85dup)
 dbSNP gnomAD v3 gnomAD v4
17g.41769361A=CA2260176091JUPc.468+57T= (n.468+57T=)
c.519+57T= (n.519+57T=)
17g.41769361A>CCA772070080JUPc.468+57T>G (n.468+57T>G)
c.519+57T>G (n.519+57T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.41769362C>ACA2637860019JUPc.468+56G>T (n.468+56G>T)
c.519+56G>T (n.519+56G>T)
 gnomAD v4
17g.41769363A=CA2260176092JUPc.468+55T= (n.468+55T=)
c.519+55T= (n.519+55T=)
17g.41769363A>CCA626215881JUPc.468+55T>G (n.468+55T>G)
c.519+55T>G (n.519+55T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769364T>GCA2733740352JUPc.468+54A>C (n.468+54A>C)
c.519+54A>C (n.519+54A>C)
 dbSNP
17g.41769365C>ACA2637860022JUPc.468+53G>T (n.468+53G>T)
c.519+53G>T (n.519+53G>T)
 dbSNP gnomAD v4
17g.41769365C=CA2260176093JUPc.468+53G= (n.468+53G=)
c.519+53G= (n.519+53G=)
17g.41769365C>TCA290700721JUPc.468+53G>A (n.468+53G>A)
c.519+53G>A (n.519+53G>A)
 dbSNP
17g.41769366T>ACA2637860026JUPc.468+52A>T (n.468+52A>T)
c.519+52A>T (n.519+52A>T)
 gnomAD v4
17g.41769366T>CCA2637860025JUPc.468+52A>G (n.468+52A>G)
c.519+52A>G (n.519+52A>G)
 dbSNP gnomAD v4
17g.41769367G>ACA2637860027JUPc.468+51C>T (n.468+51C>T)
c.519+51C>T (n.519+51C>T)
 gnomAD v4
17g.41769367G>TCA2637860028JUPc.468+51C>A (n.468+51C>A)
c.519+51C>A (n.519+51C>A)
 gnomAD v4
17g.41769368C>ACA290700724JUPc.468+50G>T (n.468+50G>T)
c.519+50G>T (n.519+50G>T)
 dbSNP gnomAD v4
17g.41769368C=CA2260176095JUPc.468+50G= (n.468+50G=)
c.519+50G= (n.519+50G=)
17g.41769368C>GCA2733652398JUPc.468+50G>C (n.468+50G>C)
c.519+50G>C (n.519+50G>C)
 dbSNP
17g.41769368C>TCA2260176096JUPc.468+50G>A (n.468+50G>A)
c.519+50G>A (n.519+50G>A)
 dbSNP
17g.41769368_41769371delinsCTCTCA2260176094JUPc.468+47_468+50delinsAGAG (n.468+47_468+50delinsAGAG)
c.519+47_519+50delinsAGAG (n.519+47_519+50delinsAGAG)
17g.41769369_41769371delCA8565480JUPc.468+47_468+49del (n.468+47_468+49del)
c.519+47_519+49del (n.519+47_519+49del)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.41769370C>ACA2637860032JUPc.468+48G>T (n.468+48G>T)
c.519+48G>T (n.519+48G>T)
 gnomAD v4
17g.41769370C>TCA2637860033JUPc.468+48G>A (n.468+48G>A)
c.519+48G>A (n.519+48G>A)
 gnomAD v4
17g.41769370_41769372delCA399504686JUPc.468+46_468+48del (n.468+46_468+48del)
c.519+46_519+48del (n.519+46_519+48del)
17g.41769372C>ACA2637860034JUPc.468+46G>T (n.468+46G>T)
c.519+46G>T (n.519+46G>T)
 gnomAD v4
17g.41769373T>CCA2637860035JUPc.468+45A>G (n.468+45A>G)
c.519+45A>G (n.519+45A>G)
 gnomAD v4
17g.41769374C>ACA2637860037JUPc.468+44G>T (n.468+44G>T)
c.519+44G>T (n.519+44G>T)
 gnomAD v4
17g.41769374C>TCA2733740355JUPc.468+44G>A (n.468+44G>A)
c.519+44G>A (n.519+44G>A)
 dbSNP
17g.41769377delCA2637860036JUPc.468+44del (n.468+44del)
c.519+44del (n.519+44del)
 gnomAD v4
17g.41769375C=CA2260176097JUPc.468+43G= (n.468+43G=)
c.519+43G= (n.519+43G=)
17g.41769375C>TCA626215882JUPc.468+43G>A (n.468+43G>A)
c.519+43G>A (n.519+43G>A)
 dbSNP gnomAD v2
17g.41769376C>ACA2637860038JUPc.468+42G>T (n.468+42G>T)
c.519+42G>T (n.519+42G>T)
 gnomAD v4
17g.41769376C=CA2260176098JUPc.468+42G= (n.468+42G=)
c.519+42G= (n.519+42G=)
17g.41769376C>TCA626215883JUPc.468+42G>A (n.468+42G>A)
c.519+42G>A (n.519+42G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.41769377C>ACA2637860043JUPc.468+41G>T (n.468+41G>T)
c.519+41G>T (n.519+41G>T)
 gnomAD v4
17g.41769377C=CA2260176099JUPc.468+41G= (n.468+41G=)
c.519+41G= (n.519+41G=)
17g.41769377C>GCA8565481JUPc.468+41G>C (n.468+41G>C)
c.519+41G>C (n.519+41G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769377C>TCA8565482JUPc.468+41G>A (n.468+41G>A)
c.519+41G>A (n.519+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769378T>CCA2637860045JUPc.468+40A>G (n.468+40A>G)
c.519+40A>G (n.519+40A>G)
 gnomAD v4
17g.41769379C>ACA2637860047JUPc.468+39G>T (n.468+39G>T)
c.519+39G>T (n.519+39G>T)
 gnomAD v4
17g.41769380C>ACA2637860048JUPc.468+38G>T (n.468+38G>T)
c.519+38G>T (n.519+38G>T)
 gnomAD v4
17g.41769380C=CA2260176100JUPc.468+38G= (n.468+38G=)
c.519+38G= (n.519+38G=)
17g.41769380C>GCA2733685435JUPc.468+38G>C (n.468+38G>C)
c.519+38G>C (n.519+38G>C)
 dbSNP
17g.41769380C>TCA2260176101JUPc.468+38G>A (n.468+38G>A)
c.519+38G>A (n.519+38G>A)
 dbSNP gnomAD v4
17g.41769381C>ACA2637860050JUPc.468+37G>T (n.468+37G>T)
c.519+37G>T (n.519+37G>T)
 gnomAD v4
17g.41769382T>ACA2637860051JUPc.468+36A>T (n.468+36A>T)
c.519+36A>T (n.519+36A>T)
 dbSNP gnomAD v4
17g.41769382T>CCA290700744JUPc.468+36A>G (n.468+36A>G)
c.519+36A>G (n.519+36A>G)
 dbSNP gnomAD v4
17g.41769382T>GCA2733657706JUPc.468+36A>C (n.468+36A>C)
c.519+36A>C (n.519+36A>C)
 dbSNP
17g.41769382T=CA2260176103JUPc.468+36A= (n.468+36A=)
c.519+36A= (n.519+36A=)
17g.41769382_41769386delinsTGCCCCA2260176102JUPc.468+32_468+36delinsGGGCA (n.468+32_468+36delinsGGGCA)
c.519+32_519+36delinsGGGCA (n.519+32_519+36delinsGGGCA)
17g.41769383G>ACA2637860055JUPc.468+35C>T (n.468+35C>T)
c.519+35C>T (n.519+35C>T)
 gnomAD v4
17g.41769383G>TCA2637860057JUPc.468+35C>A (n.468+35C>A)
c.519+35C>A (n.519+35C>A)
 gnomAD v4
17g.41769383_41769386delCA772070088JUPc.468+32_468+35del (n.468+32_468+35del)
c.519+32_519+35del (n.519+32_519+35del)
 dbSNP gnomAD v3 gnomAD v4
17g.41769384C>ACA2637860062JUPc.468+34G>T (n.468+34G>T)
c.519+34G>T (n.519+34G>T)
 gnomAD v4
17g.41769384C>TCA2637860063JUPc.468+34G>A (n.468+34G>A)
c.519+34G>A (n.519+34G>A)
 gnomAD v4
17g.41769386delCA2637860060JUPc.468+34del (n.468+34del)
c.519+34del (n.519+34del)
 gnomAD v4
17g.41769385C>ACA2637860065JUPc.468+33G>T (n.468+33G>T)
c.519+33G>T (n.519+33G>T)
 gnomAD v4
17g.41769385_41769386insTTTGCA2545802817JUPc.468+32_468+33insCAAA (n.468+32_468+33insCAAA)
c.519+32_519+33insCAAA (n.519+32_519+33insCAAA)
17g.41769386C>ACA8565483JUPc.468+32G>T (n.468+32G>T)
c.519+32G>T (n.519+32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769386C=CA2260176104JUPc.468+32G= (n.468+32G=)
c.519+32G= (n.519+32G=)
17g.41769386C>TCA2637860067JUPc.468+32G>A (n.468+32G>A)
c.519+32G>A (n.519+32G>A)
 gnomAD v4
17g.41769387A=CA2260176105JUPc.468+31T= (n.468+31T=)
c.519+31T= (n.519+31T=)
17g.41769387A>GCA2637860069JUPc.468+31T>C (n.468+31T>C)
c.519+31T>C (n.519+31T>C)
 gnomAD v4
17g.41769387A>TCA290700751JUPc.468+31T>A (n.468+31T>A)
c.519+31T>A (n.519+31T>A)
 dbSNP
17g.41769388G>ACA2576269017JUPc.468+30C>T (n.468+30C>T)
c.519+30C>T (n.519+30C>T)
 gnomAD v4
17g.41769388G>TCA2637860070JUPc.468+30C>A (n.468+30C>A)
c.519+30C>A (n.519+30C>A)
 gnomAD v4
17g.41769389C>ACA2637860073JUPc.468+29G>T (n.468+29G>T)
c.519+29G>T (n.519+29G>T)
 gnomAD v4
17g.41769389C=CA2260176106JUPc.468+29G= (n.468+29G=)
c.519+29G= (n.519+29G=)
17g.41769389C>GCA8565484JUPc.468+29G>C (n.468+29G>C)
c.519+29G>C (n.519+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769389C>TCA2260176107JUPc.468+29G>A (n.468+29G>A)
c.519+29G>A (n.519+29G>A)
 dbSNP gnomAD v4
17g.41769393delCA2637860072JUPc.468+29del (n.468+29del)
c.519+29del (n.519+29del)
 gnomAD v4
17g.41769390C=CA2260176108JUPc.468+28G= (n.468+28G=)
c.519+28G= (n.519+28G=)
17g.41769390C>TCA626215884JUPc.468+28G>A (n.468+28G>A)
c.519+28G>A (n.519+28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769391C=CA2260176109JUPc.468+27G= (n.468+27G=)
c.519+27G= (n.519+27G=)
17g.41769391C>GCA2637860078JUPc.468+27G>C (n.468+27G>C)
c.519+27G>C (n.519+27G>C)
 gnomAD v4
17g.41769391C>TCA626215885JUPc.468+27G>A (n.468+27G>A)
c.519+27G>A (n.519+27G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.41769392C>ACA2637860081JUPc.468+26G>T (n.468+26G>T)
c.519+26G>T (n.519+26G>T)
 gnomAD v4
17g.41769392C=CA2260176110JUPc.468+26G= (n.468+26G=)
c.519+26G= (n.519+26G=)
17g.41769392C>GCA8565485JUPc.468+26G>C (n.468+26G>C)
c.519+26G>C (n.519+26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769392C>TCA772070095JUPc.468+26G>A (n.468+26G>A)
c.519+26G>A (n.519+26G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.41769393C>ACA626215886JUPc.468+25G>T (n.468+25G>T)
c.519+25G>T (n.519+25G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769393C=CA2260176111JUPc.468+25G= (n.468+25G=)
c.519+25G= (n.519+25G=)
17g.41769393C>GCA8565486JUPc.468+25G>C (n.468+25G>C)
c.519+25G>C (n.519+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769393C>TCA2637860086JUPc.468+25G>A (n.468+25G>A)
c.519+25G>A (n.519+25G>A)
 gnomAD v4
17g.41769397delCA2637860088JUPc.468+23del (n.468+23del)
c.519+23del (n.519+23del)
 gnomAD v4
17g.41769396C>ACA2576269018JUPc.468+22G>T (n.468+22G>T)
c.519+22G>T (n.519+22G>T)
 gnomAD v4
17g.41769397C>TCA2637860089JUPc.468+21G>A (n.468+21G>A)
c.519+21G>A (n.519+21G>A)
 gnomAD v4
17g.41769398T>CCA2637860091JUPc.468+20A>G (n.468+20A>G)
c.519+20A>G (n.519+20A>G)
 gnomAD v4
17g.41769399A>CCA2573153775JUPc.468+19T>G (n.468+19T>G)
c.519+19T>G (n.519+19T>G)
 ClinVar dbSNP
17g.41769399A>GCA2637860094JUPc.468+19T>C (n.468+19T>C)
c.519+19T>C (n.519+19T>C)
 gnomAD v4
17g.41769400G>ACA626215887JUPc.468+18C>T (n.468+18C>T)
c.519+18C>T (n.519+18C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.41769400G>CCA983789105JUPc.468+18C>G (n.468+18C>G)
c.519+18C>G (n.519+18C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.41769400G=CA2260176112JUPc.468+18C= (n.468+18C=)
c.519+18C= (n.519+18C=)
17g.41769400G>TCA2637860099JUPc.468+18C>A (n.468+18C>A)
c.519+18C>A (n.519+18C>A)
 gnomAD v4
17g.41769401C>ACA626215888JUPc.468+17G>T (n.468+17G>T)
c.519+17G>T (n.519+17G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.41769401C=CA2260176113JUPc.468+17G= (n.468+17G=)
c.519+17G= (n.519+17G=)
17g.41769402A=CA2260176115JUPc.468+16T= (n.468+16T=)
c.519+16T= (n.519+16T=)
17g.41769402A>TCA626215889JUPc.468+16T>A (n.468+16T>A)
c.519+16T>A (n.519+16T>A)
 dbSNP gnomAD v2
17g.41769402_41769404delinsAGGCA2260176114JUPc.468+14_468+16delinsCCT (n.468+14_468+16delinsCCT)
c.519+14_519+16delinsCCT (n.519+14_519+16delinsCCT)
17g.41769404_41769405delCA772070097JUPc.468+14_468+15del (n.468+14_468+15del)
c.519+14_519+15del (n.519+14_519+15del)
 dbSNP gnomAD v3 gnomAD v4
17g.41769404G>ACA2637860102JUPc.468+14C>T (n.468+14C>T)
c.519+14C>T (n.519+14C>T)
 gnomAD v4
17g.41769404G=CA2260176116JUPc.468+14C= (n.468+14C=)
c.519+14C= (n.519+14C=)
17g.41769404G>TCA626215890JUPc.468+14C>A (n.468+14C>A)
c.519+14C>A (n.519+14C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.41769405G>ACA626215891JUPc.468+13C>T (n.468+13C>T)
c.519+13C>T (n.519+13C>T)
 dbSNP gnomAD v2
17g.41769405G=CA2260176117JUPc.468+13C= (n.468+13C=)
c.519+13C= (n.519+13C=)
17g.41769405G>TCA2637860104JUPc.468+13C>A (n.468+13C>A)
c.519+13C>A (n.519+13C>A)
 gnomAD v4
17g.41769407C>ACA2637860105JUPc.468+11G>T (n.468+11G>T)
c.519+11G>T (n.519+11G>T)
 gnomAD v4
17g.41769408C>ACA2637860106JUPc.468+10G>T (n.468+10G>T)
c.519+10G>T (n.519+10G>T)
 gnomAD v4
17g.41769408C>GCA2637860107JUPc.468+10G>C (n.468+10G>C)
c.519+10G>C (n.519+10G>C)
 gnomAD v4
17g.41769408C>TCA2637860109JUPc.468+10G>A (n.468+10G>A)
c.519+10G>A (n.519+10G>A)
 gnomAD v4
17g.41769409C>ACA2637860114JUPc.468+9G>T (n.468+9G>T)
c.519+9G>T (n.519+9G>T)
 gnomAD v4
17g.41769409C=CA2260176118JUPc.468+9G= (n.468+9G=)
c.519+9G= (n.519+9G=)
17g.41769409C>GCA626215892JUPc.468+9G>C (n.468+9G>C)
c.519+9G>C (n.519+9G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.41769409C>TCA290700763JUPc.468+9G>A (n.468+9G>A)
c.519+9G>A (n.519+9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769410T>ACA2637860117JUPc.468+8A>T (n.468+8A>T)
c.519+8A>T (n.519+8A>T)
 gnomAD v4
17g.41769410T>CCA2740090944JUPc.468+8A>G (n.468+8A>G)
c.519+8A>G (n.519+8A>G)
 ClinVar
17g.41769410T>GCA626215893JUPc.468+8A>C (n.468+8A>C)
c.519+8A>C (n.519+8A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.41769410T=CA2260176119JUPc.468+8A= (n.468+8A=)
c.519+8A= (n.519+8A=)
17g.41769411C=CA2260176120JUPc.468+7G= (n.468+7G=)
c.519+7G= (n.519+7G=)
17g.41769411C>TCA2260176121JUPc.468+7G>A (n.468+7G>A)
c.519+7G>A (n.519+7G>A)
 ClinVar dbSNP gnomAD v4
17g.41769413C=CA2260176122JUPc.468+5G= (n.468+5G=)
c.519+5G= (n.519+5G=)
17g.41769413C>TCA626215894JUPc.468+5G>A (n.468+5G>A)
c.519+5G>A (n.519+5G>A)
 dbSNP gnomAD v2
17g.41769414A=CA2260176123JUPc.468+4T= (n.468+4T=)
c.519+4T= (n.519+4T=)
17g.41769414A>GCA8565487JUPc.468+4T>C (n.468+4T>C)
c.519+4T>C (n.519+4T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769415G>ACA626215895JUPc.468+3C>T (n.468+3C>T)
c.519+3C>T (n.519+3C>T)
 dbSNP gnomAD v2
17g.41769415G=CA2260176124JUPc.468+3C= (n.468+3C=)
c.519+3C= (n.519+3C=)
17g.41769415G>TCA8565488JUPc.468+3C>A (n.468+3C>A)
c.519+3C>A (n.519+3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769416A>CCA399504708JUPc.468+2T>G (n.468+2T>G)
c.519+2T>G (n.519+2T>G)
17g.41769416A>GCA399504711JUPc.468+2T>C (n.468+2T>C)
c.519+2T>C (n.519+2T>C)
17g.41769416A>TCA399504714JUPc.468+2T>A (n.468+2T>A)
c.519+2T>A (n.519+2T>A)
17g.41769417C>ACA399504715JUPc.468+1G>T (n.468+1G>T)
c.519+1G>T (n.519+1G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.41769417C=CA2260176125JUPc.468+1G= (n.468+1G=)
c.519+1G= (n.519+1G=)
17g.41769417C>GCA399504716JUPc.468+1G>C (n.468+1G>C)
c.519+1G>C (n.519+1G>C)
17g.41769417C>TCA399504719JUPc.468+1G>A (n.468+1G>A)
c.519+1G>A (n.519+1G>A)
17g.41769418C>ACA500207561JUPc.468G>T (p.Pro156=)
c.519G>T (p.Pro173=)
 dbSNP gnomAD v2 gnomAD v4
17g.41769418C=CA2260176126JUPc.468G= (p.Pro156=)
c.519G= (p.Pro173=)
17g.41769418C>GCA500207560JUPc.468G>C (p.Pro156=)
c.519G>C (p.Pro173=)
17g.41769418C>TCA10575789JUPc.468G>A (p.Pro156=)
c.519G>A (p.Pro173=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41769419G>ACA8565489JUPc.467C>T (p.Pro156Leu)
c.518C>T (p.Pro173Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769419G>CCA399504725JUPc.467C>G (p.Pro156Arg)
c.518C>G (p.Pro173Arg)
17g.41769419G=CA2260176127JUPc.467C= (p.Pro156=)
c.518C= (p.Pro173=)
17g.41769419G>TCA399504731JUPc.467C>A (p.Pro156Gln)
c.518C>A (p.Pro173Gln)
 gnomAD v4
17g.41769420_41769421delCA2695225896JUPc.466_467del (p.Pro156GlyfsTer?)
c.517_518del (p.Pro173GlyfsTer?)
17g.41769420G>ACA399504736JUPc.466C>T (p.Pro156Ser)
c.517C>T (p.Pro173Ser)
17g.41769420G>CCA290700780JUPc.466C>G (p.Pro156Ala)
c.517C>G (p.Pro173Ala)
 dbSNP gnomAD v4
17g.41769420G=CA2260176128JUPc.466C= (p.Pro156=)
c.517C= (p.Pro173=)
17g.41769420G>TCA399504733JUPc.466C>A (p.Pro156Thr)
c.517C>A (p.Pro173Thr)
 gnomAD v4
17g.41769421G>ACA500207563JUPc.465C>T (p.Asp155=)
c.516C>T (p.Asp172=)
17g.41769421G>CCA399504738JUPc.465C>G (p.Asp155Glu)
c.516C>G (p.Asp172Glu)
 dbSNP
17g.41769421G=CA2260176129JUPc.465C= (p.Asp155=)
c.516C= (p.Asp172=)
17g.41769421G>TCA399504740JUPc.465C>A (p.Asp155Glu)
c.516C>A (p.Asp172Glu)
 gnomAD v4
17g.41769422T>ACA399504742JUPc.464A>T (p.Asp155Val)
c.515A>T (p.Asp172Val)
17g.41769422T>CCA399504745JUPc.464A>G (p.Asp155Gly)
c.515A>G (p.Asp172Gly)
17g.41769422T>GCA399504746JUPc.464A>C (p.Asp155Ala)
c.515A>C (p.Asp172Ala)
17g.41769423C>ACA399504749JUPc.463G>T (p.Asp155Tyr)
c.514G>T (p.Asp172Tyr)
 gnomAD v4
17g.41769423C=CA2260176130JUPc.463G= (p.Asp155=)
c.514G= (p.Asp172=)
17g.41769423C>GCA399504752JUPc.463G>C (p.Asp155His)
c.514G>C (p.Asp172His)
17g.41769423C>TCA399504760JUPc.463G>A (p.Asp155Asn)
c.514G>A (p.Asp172Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769424C>ACA399504763JUPc.462G>T (p.Glu154Asp)
c.513G>T (p.Glu171Asp)
 gnomAD v4
17g.41769424C=CA2260176131JUPc.462G= (p.Glu154=)
c.513G= (p.Glu171=)
17g.41769424C>GCA399504764JUPc.462G>C (p.Glu154Asp)
c.513G>C (p.Glu171Asp)
 dbSNP gnomAD v2
17g.41769424C>TCA500207566JUPc.462G>A (p.Glu154=)
c.513G>A (p.Glu171=)
 ClinVar dbSNP gnomAD v4
17g.41769425T>ACA399504767JUPc.461A>T (p.Glu154Val)
c.512A>T (p.Glu171Val)
17g.41769425T>CCA399504770JUPc.461A>G (p.Glu154Gly)
c.512A>G (p.Glu171Gly)
17g.41769425T>GCA399504772JUPc.461A>C (p.Glu154Ala)
c.512A>C (p.Glu171Ala)
17g.41769426C>ACA399504777JUPc.460G>T (p.Glu154Ter)
c.511G>T (p.Glu171Ter)
17g.41769426C=CA2260176132JUPc.460G= (p.Glu154=)
c.511G= (p.Glu171=)
17g.41769426C>GCA399504775JUPc.460G>C (p.Glu154Gln)
c.511G>C (p.Glu171Gln)
 gnomAD v4
17g.41769426C>TCA8565490JUPc.460G>A (p.Glu154Lys)
c.511G>A (p.Glu171Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769427G>ACA8565491JUPc.459C>T (p.Asp153=)
c.510C>T (p.Asp170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769427G>CCA399504784JUPc.459C>G (p.Asp153Glu)
c.510C>G (p.Asp170Glu)
 gnomAD v4
17g.41769427G=CA2260176133JUPc.459C= (p.Asp153=)
c.510C= (p.Asp170=)
17g.41769427G>TCA8565492JUPc.459C>A (p.Asp153Glu)
c.510C>A (p.Asp170Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769428T>ACA399504788JUPc.458A>T (p.Asp153Val)
c.509A>T (p.Asp170Val)
17g.41769428T>CCA399504790JUPc.458A>G (p.Asp153Gly)
c.509A>G (p.Asp170Gly)
17g.41769428T>GCA399504793JUPc.458A>C (p.Asp153Ala)
c.509A>C (p.Asp170Ala)
17g.41769429C>ACA399504798JUPc.457G>T (p.Asp153Tyr)
c.508G>T (p.Asp170Tyr)
 gnomAD v4
17g.41769429C=CA2260176134JUPc.457G= (p.Asp153=)
c.508G= (p.Asp170=)
17g.41769429C>GCA399504800JUPc.457G>C (p.Asp153His)
c.508G>C (p.Asp170His)
 dbSNP
17g.41769429C>TCA8565493JUPc.457G>A (p.Asp153Asn)
c.508G>A (p.Asp170Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769430G>ACA8565495JUPc.456C>T (p.Asn152=)
c.507C>T (p.Asn169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769430G>CCA8565494JUPc.456C>G (p.Asn152Lys)
c.507C>G (p.Asn169Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769430G=CA2260176135JUPc.456C= (p.Asn152=)
c.507C= (p.Asn169=)
17g.41769430G>TCA399504805JUPc.456C>A (p.Asn152Lys)
c.507C>A (p.Asn169Lys)
17g.41769431T>ACA399504810JUPc.455A>T (p.Asn152Ile)
c.506A>T (p.Asn169Ile)
17g.41769431T>CCA399504811JUPc.455A>G (p.Asn152Ser)
c.506A>G (p.Asn169Ser)
 ClinVar dbSNP
17g.41769431T>GCA399504808JUPc.455A>C (p.Asn152Thr)
c.506A>C (p.Asn169Thr)
 gnomAD v4
17g.41769431T=CA2260176136JUPc.455A= (p.Asn152=)
c.506A= (p.Asn169=)
17g.41769432T>ACA399504819JUPc.454A>T (p.Asn152Tyr)
c.505A>T (p.Asn169Tyr)
17g.41769432T>CCA399504813JUPc.454A>G (p.Asn152Asp)
c.505A>G (p.Asn169Asp)
17g.41769432T>GCA399504817JUPc.454A>C (p.Asn152His)
c.505A>C (p.Asn169His)
17g.41769433G>ACA500207575JUPc.453C>T (p.Leu151=)
c.504C>T (p.Leu168=)
 dbSNP gnomAD v2
17g.41769433G>CCA290700800JUPc.453C>G (p.Leu151=)
c.504C>G (p.Leu168=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.41769433G=CA2260176137JUPc.453C= (p.Leu151=)
c.504C= (p.Leu168=)
17g.41769433G>TCA500207576JUPc.453C>A (p.Leu151=)
c.504C>A (p.Leu168=)
 gnomAD v4
17g.41769434A>CCA399504821JUPc.452T>G (p.Leu151Arg)
c.503T>G (p.Leu168Arg)
17g.41769434A>GCA399504823JUPc.452T>C (p.Leu151Pro)
c.503T>C (p.Leu168Pro)
17g.41769434A>TCA399504826JUPc.452T>A (p.Leu151His)
c.503T>A (p.Leu168His)
17g.41769435G>ACA399504828JUPc.451C>T (p.Leu151Phe)
c.502C>T (p.Leu168Phe)
17g.41769435G>CCA399504831JUPc.451C>G (p.Leu151Val)
c.502C>G (p.Leu168Val)
17g.41769435G>TCA399504834JUPc.451C>A (p.Leu151Ile)
c.502C>A (p.Leu168Ile)
17g.41769435_41769436delinsTGCA2573153776JUPc.450_451delinsCA (p.Leu151Ile)
c.501_502delinsCA (p.Leu168Ile)
 ClinVar dbSNP
17g.41769436C>ACA500207580JUPc.450G>T (p.Leu150=)
c.501G>T (p.Leu167=)
 gnomAD v4
17g.41769436C=CA2260176138JUPc.450G= (p.Leu150=)
c.501G= (p.Leu167=)
17g.41769436C>GCA500207581JUPc.450G>C (p.Leu150=)
c.501G>C (p.Leu167=)
 dbSNP gnomAD v3 gnomAD v4
17g.41769436C>TCA500207582JUPc.450G>A (p.Leu150=)
c.501G>A (p.Leu167=)
17g.41769437A>CCA399504837JUPc.449T>G (p.Leu150Arg)
c.500T>G (p.Leu167Arg)
17g.41769437A>GCA399504840JUPc.449T>C (p.Leu150Pro)
c.500T>C (p.Leu167Pro)
17g.41769437A>TCA399504842JUPc.449T>A (p.Leu150Gln)
c.500T>A (p.Leu167Gln)
17g.41769438G>ACA500207583JUPc.448C>T (p.Leu150=)
c.499C>T (p.Leu167=)
17g.41769438G>CCA399504843JUPc.448C>G (p.Leu150Val)
c.499C>G (p.Leu167Val)
17g.41769438G>TCA399504844JUPc.448C>A (p.Leu150Met)
c.499C>A (p.Leu167Met)
17g.41769439T>ACA399504848JUPc.447A>T (p.Lys149Asn)
c.498A>T (p.Lys166Asn)
17g.41769439T>CCA290700810JUPc.447A>G (p.Lys149=)
c.498A>G (p.Lys166=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41769439T>GCA399504847JUPc.447A>C (p.Lys149Asn)
c.498A>C (p.Lys166Asn)
17g.41769439T=CA2260176139JUPc.447A= (p.Lys149=)
c.498A= (p.Lys166=)
17g.41769440T>ACA399504853JUPc.446A>T (p.Lys149Ile)
c.497A>T (p.Lys166Ile)
17g.41769440T>CCA399504856JUPc.446A>G (p.Lys149Arg)
c.497A>G (p.Lys166Arg)
17g.41769440T>GCA399504858JUPc.446A>C (p.Lys149Thr)
c.497A>C (p.Lys166Thr)
17g.41769441T>ACA399504861JUPc.445A>T (p.Lys149Ter)
c.496A>T (p.Lys166Ter)
17g.41769441T>CCA399504862JUPc.445A>G (p.Lys149Glu)
c.496A>G (p.Lys166Glu)
17g.41769441T>GCA399504867JUPc.445A>C (p.Lys149Gln)
c.496A>C (p.Lys166Gln)
17g.41769442G>ACA500207587JUPc.444C>T (p.Thr148=)
c.495C>T (p.Thr165=)
17g.41769442G>CCA500207585JUPc.444C>G (p.Thr148=)
c.495C>G (p.Thr165=)
 gnomAD v4
17g.41769442G>TCA500207586JUPc.444C>A (p.Thr148=)
c.495C>A (p.Thr165=)
 gnomAD v4
17g.41769443G>ACA399504868JUPc.443C>T (p.Thr148Ile)
c.494C>T (p.Thr165Ile)
17g.41769443G>CCA399504869JUPc.443C>G (p.Thr148Ser)
c.494C>G (p.Thr165Ser)
17g.41769443G=CA2260176140JUPc.443C= (p.Thr148=)
c.494C= (p.Thr165=)
17g.41769443G>TCA399504872JUPc.443C>A (p.Thr148Asn)
c.494C>A (p.Thr165Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.41769444T>ACA399504874JUPc.442A>T (p.Thr148Ser)
c.493A>T (p.Thr165Ser)
17g.41769444T>CCA399504875JUPc.442A>G (p.Thr148Ala)
c.493A>G (p.Thr165Ala)
17g.41769444T>GCA399504877JUPc.442A>C (p.Thr148Pro)
c.493A>C (p.Thr165Pro)
17g.41769445G>ACA500207590JUPc.441C>T (p.Leu147=)
c.492C>T (p.Leu164=)
17g.41769445G>CCA500207591JUPc.441C>G (p.Leu147=)
c.492C>G (p.Leu164=)
17g.41769445G>TCA500207593JUPc.441C>A (p.Leu147=)
c.492C>A (p.Leu164=)
 gnomAD v4
17g.41769446A>CCA399504885JUPc.440T>G (p.Leu147Arg)
c.491T>G (p.Leu164Arg)
17g.41769446A>GCA399504883JUPc.440T>C (p.Leu147Pro)
c.491T>C (p.Leu164Pro)
17g.41769446A>TCA399504881JUPc.440T>A (p.Leu147His)
c.491T>A (p.Leu164His)
17g.41769447G>ACA399504890JUPc.439C>T (p.Leu147Phe)
c.490C>T (p.Leu164Phe)
 gnomAD v4
17g.41769447G>CCA399504889JUPc.439C>G (p.Leu147Val)
c.490C>G (p.Leu164Val)
17g.41769447G>TCA399504891JUPc.439C>A (p.Leu147Ile)
c.490C>A (p.Leu164Ile)
17g.41769448C>ACA399504892JUPc.438G>T (p.Glu146Asp)
c.489G>T (p.Glu163Asp)
17g.41769448C=CA2260176141JUPc.438G= (p.Glu146=)
c.489G= (p.Glu163=)
17g.41769448C>GCA399504893JUPc.438G>C (p.Glu146Asp)
c.489G>C (p.Glu163Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.41769448C>TCA500207595JUPc.438G>A (p.Glu146=)
c.489G>A (p.Glu163=)
17g.41769449T>ACA399504894JUPc.437A>T (p.Glu146Val)
c.488A>T (p.Glu163Val)
17g.41769449T>CCA399504896JUPc.437A>G (p.Glu146Gly)
c.488A>G (p.Glu163Gly)
17g.41769449T>GCA399504898JUPc.437A>C (p.Glu146Ala)
c.488A>C (p.Glu163Ala)
 gnomAD v4
17g.41769450C>ACA399504899JUPc.436G>T (p.Glu146Ter)
c.487G>T (p.Glu163Ter)
 ClinVar dbSNP
17g.41769450C=CA2260176142JUPc.436G= (p.Glu146=)
c.487G= (p.Glu163=)
17g.41769450C>GCA399504901JUPc.436G>C (p.Glu146Gln)
c.487G>C (p.Glu163Gln)
17g.41769450C>TCA8565496JUPc.436G>A (p.Glu146Lys)
c.487G>A (p.Glu163Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41769451G>ACA8565497JUPc.435C>T (p.Pro145=)
c.486C>T (p.Pro162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769451G>CCA500207597JUPc.435C>G (p.Pro145=)
c.486C>G (p.Pro162=)
 dbSNP gnomAD v4
17g.41769451G=CA2260176143JUPc.435C= (p.Pro145=)
c.486C= (p.Pro162=)
17g.41769451G>TCA500207598JUPc.435C>A (p.Pro145=)
c.486C>A (p.Pro162=)
17g.41769452G>ACA399504903JUPc.434C>T (p.Pro145Leu)
c.485C>T (p.Pro162Leu)
17g.41769452G>CCA399504904JUPc.434C>G (p.Pro145Arg)
c.485C>G (p.Pro162Arg)
 gnomAD v4
17g.41769452G>TCA399504906JUPc.434C>A (p.Pro145His)
c.485C>A (p.Pro162His)
 gnomAD v4
17g.41769453G>ACA8565498JUPc.433C>T (p.Pro145Ser)
c.484C>T (p.Pro162Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769453G>CCA399504912JUPc.433C>G (p.Pro145Ala)
c.484C>G (p.Pro162Ala)
17g.41769453G=CA2260176144JUPc.433C= (p.Pro145=)
c.484C= (p.Pro162=)
17g.41769453G>TCA399504909JUPc.433C>A (p.Pro145Thr)
c.484C>A (p.Pro162Thr)
17g.41769454C>ACA500207603JUPc.432G>T (p.Leu144=)
c.483G>T (p.Leu161=)
17g.41769454C=CA2260176145JUPc.432G= (p.Leu144=)
c.483G= (p.Leu161=)
17g.41769454C>GCA500207601JUPc.432G>C (p.Leu144=)
c.483G>C (p.Leu161=)
17g.41769454C>TCA500207602JUPc.432G>A (p.Leu144=)
c.483G>A (p.Leu161=)
 dbSNP gnomAD v2 gnomAD v4
17g.41769455A>CCA399504914JUPc.431T>G (p.Leu144Arg)
c.482T>G (p.Leu161Arg)
17g.41769455A>GCA399504915JUPc.431T>C (p.Leu144Pro)
c.482T>C (p.Leu161Pro)
17g.41769455A>TCA399504917JUPc.431T>A (p.Leu144Gln)
c.482T>A (p.Leu161Gln)
17g.41769456G>ACA500207607JUPc.430C>T (p.Leu144=)
c.481C>T (p.Leu161=)
17g.41769456G>CCA399504919JUPc.430C>G (p.Leu144Val)
c.481C>G (p.Leu161Val)
17g.41769456G>TCA399504921JUPc.430C>A (p.Leu144Met)
c.481C>A (p.Leu161Met)
17g.41769457G>ACA8565499JUPc.429C>T (p.Ala143=)
c.480C>T (p.Ala160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41769457G>CCA500207608JUPc.429C>G (p.Ala143=)
c.480C>G (p.Ala160=)
17g.41769457G=CA2260176146JUPc.429C= (p.Ala143=)
c.480C= (p.Ala160=)
17g.41769457G>TCA500207609JUPc.429C>A (p.Ala143=)
c.480C>A (p.Ala160=)
 gnomAD v4
17g.41769458G>ACA399504922JUPc.428C>T (p.Ala143Val)
c.479C>T (p.Ala160Val)
 COSMIC
17g.41769458G>CCA399504924JUPc.428C>G (p.Ala143Gly)
c.479C>G (p.Ala160Gly)
17g.41769458G>TCA399504927JUPc.428C>A (p.Ala143Asp)
c.479C>A (p.Ala160Asp)
 gnomAD v4
17g.41769459C>ACA399504932JUPc.427G>T (p.Ala143Ser)
c.478G>T (p.Ala160Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.41769459C=CA2260176147JUPc.427G= (p.Ala143=)
c.478G= (p.Ala160=)
17g.41769459C>GCA399504934JUPc.427G>C (p.Ala143Pro)
c.478G>C (p.Ala160Pro)
17g.41769459C>TCA308461JUPc.427G>A (p.Ala143Thr)
c.478G>A (p.Ala160Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769460G>ACA8565500JUPc.426C>T (p.Arg142=)
c.477C>T (p.Arg159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41769460G>CCA500207610JUPc.426C>G (p.Arg142=)
c.477C>G (p.Arg159=)
 gnomAD v4
17g.41769460G=CA2260176148JUPc.426C= (p.Arg142=)
c.477C= (p.Arg159=)
17g.41769460G>TCA500207611JUPc.426C>A (p.Arg142=)
c.477C>A (p.Arg159=)
17g.41769461C>ACA399504941JUPc.425G>T (p.Arg142Leu)
c.476G>T (p.Arg159Leu)
 gnomAD v4
17g.41769461C=CA2260176149JUPc.425G= (p.Arg142=)
c.476G= (p.Arg159=)
17g.41769461C>GCA399504944JUPc.425G>C (p.Arg142Pro)
c.476G>C (p.Arg159Pro)
17g.41769461C>TCA137213JUPc.425G>A (p.Arg142His)
c.476G>A (p.Arg159His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched