Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80108679_80116948delCA913184754GAAc.1195-18_2190-20del
c.1195-18_*328-20del
17g.80108678_80116951delCA658795244GAAc.1195-19_2190-17del
c.1195-19_*328-17del
ClinVar
17g.80110907G>ACA8815377GAAc.1552-34G>A (n.1552-34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110907G=CA2277814158GAAc.1552-34G= (n.1552-34G=)
17g.80110907G>TCA627699588GAAc.1552-34G>T (n.1552-34G>T)
dbSNP gnomAD v2 gnomAD v4
17g.80110908C=CA2277814159GAAc.1552-33C= (n.1552-33C=)
17g.80110908C>TCA8815378GAAc.1552-33C>T (n.1552-33C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110908_80110910delinsCAGCA2277814160GAAc.1552-33_1552-31delinsCAG (n.1552-33_1552-31delinsCAG)
17g.80110909A=CA2277814161GAAc.1552-32A= (n.1552-32A=)
17g.80110909A>GCA775516749GAAc.1552-32A>G (n.1552-32A>G)
dbSNP gnomAD v3 gnomAD v4
17g.80110911_80110912delCA627699589GAAc.1552-30_1552-29del (n.1552-30_1552-29del)
dbSNP gnomAD v2 gnomAD v4
17g.80110910G>ACA2640288761GAAc.1552-31G>A (n.1552-31G>A)
gnomAD v4
17g.80110913T>ACA2640288762GAAc.1552-28T>A (n.1552-28T>A)
gnomAD v4
17g.80110914C=CA2277814162GAAc.1552-27C= (n.1552-27C=)
17g.80110914C>GCA2576414108GAAc.1552-27C>G (n.1552-27C>G)
gnomAD v4
17g.80110914C>TCA8815379GAAc.1552-27C>T (n.1552-27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110915A>GCA2576414109GAAc.1552-26A>G (n.1552-26A>G)
17g.80110916C>TCA2567105431GAAc.1552-25C>T (n.1552-25C>T)
gnomAD v4
17g.80110917C>GCA2640288763GAAc.1552-24C>G (n.1552-24C>G)
gnomAD v4
17g.80110918T>ACA2640288764GAAc.1552-23T>A (n.1552-23T>A)
gnomAD v4
17g.80110921delCA2576414110GAAc.1552-20del (n.1552-20del)
17g.80110921C=CA2277814163GAAc.1552-20C= (n.1552-20C=)
17g.80110921C>TCA8815380GAAc.1552-20C>T (n.1552-20C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80110922A=CA2277814165GAAc.1552-19A= (n.1552-19A=)
17g.80110922A>TCA986707348GAAc.1552-19A>T (n.1552-19A>T)
dbSNP gnomAD v3 gnomAD v4
17g.80110922_80110936delinsAGCAGCGCTTCTCTTCA2277814164GAAc.1552-19_1552-5delinsAGCAGCGCTTCTCTT (n.1552-19_1552-5delinsAGCAGCGCTTCTCTT)
17g.80110923G>CCA2277814167GAAc.1552-18G>C (n.1552-18G>C)
dbSNP gnomAD v4
17g.80110923G=CA2277814166GAAc.1552-18G= (n.1552-18G=)
17g.80110927_80110940delCA891844474GAAc.1552-14_1552-1del (n.1552-14_1552-1del)
ClinVar dbSNP
17g.80110924C>TCA2640288773GAAc.1552-17C>T (n.1552-17C>T)
gnomAD v4
17g.80110925A>GCA2740093942GAAc.1552-16A>G (n.1552-16A>G)
ClinVar
17g.80110926G>ACA2640288776GAAc.1552-15G>A (n.1552-15G>A)
gnomAD v4
17g.80110926G>CCA2734103691GAAc.1552-15G>C (n.1552-15G>C)
dbSNP
17g.80110926G>TCA2640288775GAAc.1552-15G>T (n.1552-15G>T)
gnomAD v4
17g.80110927C=CA2277814168GAAc.1552-14C= (n.1552-14C=)
17g.80110927C>GCA2504980463GAAc.1552-14C>G (n.1552-14C>G)
dbSNP gnomAD v4
17g.80110927C>TCA8815381GAAc.1552-14C>T (n.1552-14C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110928G>ACA8815382GAAc.1552-13G>A (n.1552-13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110928G=CA2277814169GAAc.1552-13G= (n.1552-13G=)
17g.80110929C>ACA2573154974GAAc.1552-12C>A (n.1552-12C>A)
ClinVar dbSNP
17g.80110929_80110930delinsCTCA2277814170GAAc.1552-12_1552-11delinsCT (n.1552-12_1552-11delinsCT)
17g.80110930T>CCA2277814172GAAc.1552-11T>C (n.1552-11T>C)
dbSNP gnomAD v4
17g.80110930T=CA2277814171GAAc.1552-11T= (n.1552-11T=)
17g.80110931delCA294894974GAAc.1552-10del (n.1552-10del)
ClinVar dbSNP gnomAD v4
17g.80110933T>CCA2277814173GAAc.1552-8T>C (n.1552-8T>C)
ClinVar dbSNP
17g.80110933T=CA2277814174GAAc.1552-8T= (n.1552-8T=)
17g.80110934C=CA2277814175GAAc.1552-7C= (n.1552-7C=)
17g.80110934C>GCA2740093943GAAc.1552-7C>G (n.1552-7C>G)
ClinVar
17g.80110934C>TCA2277814176GAAc.1552-7C>T (n.1552-7C>T)
ClinVar dbSNP
17g.80110936T>GCA2640288787GAAc.1552-5T>G (n.1552-5T>G)
gnomAD v4
17g.80110937G>TCA645599507GAAc.1552-4G>T (n.1552-4G>T)
COSMIC
17g.80110938C=CA2277814177GAAc.1552-3C= (n.1552-3C=)
17g.80110938C>GCA8815383GAAc.1552-3C>G (n.1552-3C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110938C>TCA2573154975GAAc.1552-3C>T (n.1552-3C>T)
ClinVar dbSNP gnomAD v4
17g.80110939A=CA2277814178GAAc.1552-2A= (n.1552-2A=)
17g.80110939A>CCA401367172GAAc.1552-2A>C (n.1552-2A>C)
ClinVar
17g.80110939A>GCA401367171GAAc.1552-2A>G (n.1552-2A>G)
ClinVar dbSNP
17g.80110939A>TCA401367173GAAc.1552-2A>T (n.1552-2A>T)
17g.80110940G>ACA401367174GAAc.1552-1G>A (n.1552-1G>A)
17g.80110940G>CCA401367175GAAc.1552-1G>C (n.1552-1G>C)
gnomAD v4
17g.80110940G>TCA401367176GAAc.1552-1G>T (n.1552-1G>T)
17g.80110941G>ACA401367177GAAc.1552G>A (p.Asp518Asn)
17g.80110941G>CCA401367178GAAc.1552G>C (p.Asp518His)
17g.80110941G=CA2277814179GAAc.1552G= (p.Asp518=)
17g.80110941G>TCA401367179GAAc.1552G>T (p.Asp518Tyr)
17g.80110942A>CCA401367182GAAc.1553A>C (p.Asp518Ala)
17g.80110942A>GCA401367181GAAc.1553A>G (p.Asp518Gly)
17g.80110942A>TCA401367180GAAc.1553A>T (p.Asp518Val)
17g.80110942_80110944dupCA913186005GAAc.1553_1555dup (p.Asp518_Met519insAsn)
ClinVar dbSNP
17g.80110943C>ACA401367183GAAc.1554C>A (p.Asp518Glu)
17g.80110943C=CA2277814180GAAc.1554C= (p.Asp518=)
17g.80110943C>GCA401367184GAAc.1554C>G (p.Asp518Glu)
17g.80110943C>TCA8815384GAAc.1554C>T (p.Asp518=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80110944A=CA2277814181GAAc.1555A= (p.Met519=)
17g.80110944A>CCA401367185GAAc.1555A>C (p.Met519Leu)
17g.80110944A>GCA401367186GAAc.1555A>G (p.Met519Val)
ClinVar dbSNP
17g.80110944A>TCA401367187GAAc.1555A>T (p.Met519Leu)
17g.80110945T>ACA401367188GAAc.1556T>A (p.Met519Lys)
17g.80110945T>CCA274402GAAc.1556T>C (p.Met519Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110945T>GCA401367189GAAc.1556T>G (p.Met519Arg)
17g.80110945T=CA2277814182GAAc.1556T= (p.Met519=)
17g.80110946G>ACA401367190GAAc.1557G>A (p.Met519Ile)
ClinVar dbSNP
17g.80110946G>CCA401367191GAAc.1557G>C (p.Met519Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110946G=CA2277814183GAAc.1557G= (p.Met519=)
17g.80110946G>TCA401367192GAAc.1557G>T (p.Met519Ile)
17g.80110946_80110950dupCA2499225013GAAc.1557_1561dup (p.Glu521GlyfsTer?)
ClinVar dbSNP
17g.80110947A>CCA401367193GAAc.1558A>C (p.Asn520His)
17g.80110947A>GCA401367194GAAc.1558A>G (p.Asn520Asp)
17g.80110947A>TCA401367195GAAc.1558A>T (p.Asn520Tyr)
17g.80110948delCA2573054603GAAc.1559del (p.Asn520ThrfsTer?)
ClinVar dbSNP
17g.80110948A=CA2277814184GAAc.1559A= (p.Asn520=)
17g.80110948A>CCA401367196GAAc.1559A>C (p.Asn520Thr)
17g.80110948A>GCA401367197GAAc.1559A>G (p.Asn520Ser)
ClinVar dbSNP
17g.80110948A>TCA401367198GAAc.1559A>T (p.Asn520Ile)
ClinVar
17g.80110949delCA2739268477GAAc.1560del (p.Asn520LysfsTer?)
ClinVar
17g.80110949C>ACA401367199GAAc.1560C>A (p.Asn520Lys)
gnomAD v4
17g.80110949C=CA2277814185GAAc.1560C= (p.Asn520=)
17g.80110949C>GCA401367200GAAc.1560C>G (p.Asn520Lys)
17g.80110949C>TCA8815385GAAc.1560C>T (p.Asn520=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110950delCA2697555224GAAc.1561del (p.Glu521SerfsTer?)
ClinVar
17g.80110950G>ACA116593GAAc.1561G>A (p.Glu521Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80110950G>CCA401367201GAAc.1561G>C (p.Glu521Gln)
ClinVar
17g.80110950G=CA2277814186GAAc.1561G= (p.Glu521=)
17g.80110950G>TCA401367202GAAc.1561G>T (p.Glu521Ter)
17g.80110951A=CA2277814187GAAc.1562A= (p.Glu521=)
17g.80110951A>CCA401367203GAAc.1562A>C (p.Glu521Ala)
17g.80110951A>GCA401367204GAAc.1562A>G (p.Glu521Gly)
17g.80110951A>TCA401367205GAAc.1562A>T (p.Glu521Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110952G>ACA502178688GAAc.1563G>A (p.Glu521=)
17g.80110952G>CCA401367206GAAc.1563G>C (p.Glu521Asp)
17g.80110952G>TCA401367207GAAc.1563G>T (p.Glu521Asp)
17g.80110952_80110953insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGTCA986707383GAAc.1563_1564insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT (p.Pro522LysfsTer5)
17g.80110953C>ACA401367208GAAc.1564C>A (p.Pro522Thr)
ClinVar dbSNP gnomAD v4
17g.80110953C=CA2277814188GAAc.1564C= (p.Pro522=)
17g.80110953C>GCA16041893GAAc.1564C>G (p.Pro522Ala)
ClinVar dbSNP gnomAD v4
17g.80110953C>TCA294895008GAAc.1564C>T (p.Pro522Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110954C>ACA401367209GAAc.1565C>A (p.Pro522His)
17g.80110954C>GCA401367211GAAc.1565C>G (p.Pro522Arg)
17g.80110954C>TCA401367210GAAc.1565C>T (p.Pro522Leu)
ClinVar dbSNP
17g.80110954_80110955delinsCTCA2277814189GAAc.1565_1566delinsCT (p.Pro522=)
17g.80110955T>ACA502178691GAAc.1566T>A (p.Pro522=)
17g.80110955T>CCA502178690GAAc.1566T>C (p.Pro522=)
17g.80110955T>GCA502178689GAAc.1566T>G (p.Pro522=)
17g.80110956delCA16041894GAAc.1567del (p.Ser523ProfsTer?)
ClinVar dbSNP
17g.80110956T>ACA401367212GAAc.1567T>A (p.Ser523Thr)
17g.80110956T>CCA401367213GAAc.1567T>C (p.Ser523Pro)
gnomAD v4
17g.80110956T>GCA401367214GAAc.1567T>G (p.Ser523Ala)
17g.80110957C>ACA401367215GAAc.1568C>A (p.Ser523Tyr)
17g.80110957C=CA2277814190GAAc.1568C= (p.Ser523=)
17g.80110957C>GCA401367217GAAc.1568C>G (p.Ser523Cys)
ClinVar dbSNP
17g.80110957C>TCA401367216GAAc.1568C>T (p.Ser523Phe)
gnomAD v4
17g.80110958C>ACA502178692GAAc.1569C>A (p.Ser523=)
17g.80110958C>GCA502178693GAAc.1569C>G (p.Ser523=)
17g.80110958C>TCA502178694GAAc.1569C>T (p.Ser523=)
17g.80110959A>CCA401367218GAAc.1570A>C (p.Asn524His)
17g.80110959A>GCA401367219GAAc.1570A>G (p.Asn524Asp)
gnomAD v4
17g.80110959A>TCA401367220GAAc.1570A>T (p.Asn524Tyr)
17g.80110960A=CA2277814191GAAc.1571A= (p.Asn524=)
17g.80110960A>CCA401367221GAAc.1571A>C (p.Asn524Thr)
ClinVar
17g.80110960A>GCA401367222GAAc.1571A>G (p.Asn524Ser)
dbSNP gnomAD v2 gnomAD v4
17g.80110960A>TCA401367223GAAc.1571A>T (p.Asn524Ile)
17g.80110961C>ACA401367224GAAc.1572C>A (p.Asn524Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110961C=CA2277814192GAAc.1572C= (p.Asn524=)
17g.80110961C>GCA401367225GAAc.1572C>G (p.Asn524Lys)
ClinVar dbSNP
17g.80110961C>TCA502178695GAAc.1572C>T (p.Asn524=)
ClinVar dbSNP
17g.80110962T>ACA401367226GAAc.1573T>A (p.Phe525Ile)
dbSNP
17g.80110962T>CCA401367227GAAc.1573T>C (p.Phe525Leu)
17g.80110962T>GCA401367228GAAc.1573T>G (p.Phe525Val)
17g.80110962T=CA2277814193GAAc.1573T= (p.Phe525=)
17g.80110963T>ACA401367231GAAc.1574T>A (p.Phe525Tyr)
17g.80110963T>CCA401367229GAAc.1574T>C (p.Phe525Ser)
17g.80110963T>GCA401367230GAAc.1574T>G (p.Phe525Cys)
17g.80110964C>ACA401367232GAAc.1575C>A (p.Phe525Leu)
17g.80110964C>GCA401367233GAAc.1575C>G (p.Phe525Leu)
17g.80110964C>TCA502178696GAAc.1575C>T (p.Phe525=)
COSMIC
17g.80110964dupCA2573154976GAAc.1575dup (p.Ile526HisfsTer5)
ClinVar dbSNP
17g.80110964_80110965delCA2580095759GAAc.1575_1576del (p.Ile526GlnfsTer4)
ClinVar
17g.80110965A=CA2277814194GAAc.1576A= (p.Ile526=)
17g.80110965A>CCA401367234GAAc.1576A>C (p.Ile526Leu)
17g.80110965A>GCA401367235GAAc.1576A>G (p.Ile526Val)
ClinVar dbSNP
17g.80110965A>TCA401367236GAAc.1576A>T (p.Ile526Phe)
17g.80110966T>ACA401367239GAAc.1577T>A (p.Ile526Asn)
17g.80110966T>CCA401367238GAAc.1577T>C (p.Ile526Thr)
17g.80110966T>GCA401367237GAAc.1577T>G (p.Ile526Ser)
17g.80110967C>ACA502178697GAAc.1578C>A (p.Ile526=)
17g.80110967C>GCA401367240GAAc.1578C>G (p.Ile526Met)
17g.80110967C>TCA502178698GAAc.1578C>T (p.Ile526=)
17g.80110967_80110968delinsCACA2277814196GAAc.1578_1579delinsCA (p.Ile526=)
17g.80110967_80110969delinsCAGCA2277814195GAAc.1578_1580delinsCAG (p.Ile526=)
17g.80110968delCA1139665924GAAc.1579del (p.Arg527GlyfsTer?)
ClinVar dbSNP
17g.80110968A>CCA502178699GAAc.1579A>C (p.Arg527=)
17g.80110968A>GCA401367241GAAc.1579A>G (p.Arg527Gly)
ClinVar
17g.80110968A>TCA401367242GAAc.1579A>T (p.Arg527Trp)
17g.80110968_80110969delCA627699647GAAc.1579_1580del (p.Arg527GlyfsTer3)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110969G>ACA401367243GAAc.1580G>A (p.Arg527Lys)
ClinVar
17g.80110969G>CCA401367244GAAc.1580G>C (p.Arg527Thr)
17g.80110969G>TCA401367245GAAc.1580G>T (p.Arg527Met)
17g.80110971_80110972delCA915940877GAAc.1582_1583del (p.Gly528LeufsTer2)
17g.80110970G>ACA145757GAAc.1581G>A (p.Arg527=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110970G>CCA401367246GAAc.1581G>C (p.Arg527Ser)
17g.80110970G=CA2277814197GAAc.1581G= (p.Arg527=)
17g.80110970G>TCA401367247GAAc.1581G>T (p.Arg527Ser)
17g.80110971G>ACA401367248GAAc.1582G>A (p.Gly528Ser)
dbSNP
17g.80110971G>CCA401367249GAAc.1582G>C (p.Gly528Arg)
17g.80110971G=CA2277814198GAAc.1582G= (p.Gly528=)
17g.80110971G>TCA401367250GAAc.1582G>T (p.Gly528Cys)
17g.80110972G>ACA401367251GAAc.1583G>A (p.Gly528Asp)
gnomAD v4
17g.80110972G>CCA239454GAAc.1583G>C (p.Gly528Ala)
ClinVar dbSNP gnomAD v4
17g.80110972G=CA2277814199GAAc.1583G= (p.Gly528=)
17g.80110972G>TCA401367252GAAc.1583G>T (p.Gly528Val)
ClinVar gnomAD v4
17g.80110973C>ACA502178700GAAc.1584C>A (p.Gly528=)
gnomAD v4
17g.80110973C=CA2277814200GAAc.1584C= (p.Gly528=)
17g.80110973C>GCA502178701GAAc.1584C>G (p.Gly528=)
dbSNP gnomAD v2 gnomAD v4
17g.80110973C>TCA502178702GAAc.1584C>T (p.Gly528=)
17g.80110974T>ACA401367253GAAc.1585T>A (p.Ser529Thr)
17g.80110974T>CCA401367254GAAc.1585T>C (p.Ser529Pro)
ClinVar dbSNP
17g.80110974T>GCA401367255GAAc.1585T>G (p.Ser529Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80110974T=CA2277814202GAAc.1585T= (p.Ser529=)
17g.80110974_80110975delinsGTCA116604GAAc.1585_1586delinsGT (p.Ser529Val)
ClinVar dbSNP
17g.80110974_80110975delinsTCCA2277814201GAAc.1585_1586delinsTC (p.Ser529=)
17g.80110975C>ACA401367256GAAc.1586C>A (p.Ser529Tyr)
17g.80110975C>GCA401367257GAAc.1586C>G (p.Ser529Cys)
17g.80110975C>TCA401367258GAAc.1586C>T (p.Ser529Phe)
17g.80110978_80110987delCA2640288896GAAc.1589_1598del (p.Glu530AlafsTer?)
gnomAD v4
17g.80110976delCA2697555227GAAc.1587del (p.Glu530ArgfsTer?)
ClinVar
17g.80110976T>ACA502178703GAAc.1587T>A (p.Ser529=)
17g.80110976T>CCA502178704GAAc.1587T>C (p.Ser529=)
17g.80110976T>GCA502178705GAAc.1587T>G (p.Ser529=)
17g.80110977G>ACA401367261GAAc.1588G>A (p.Glu530Lys)
17g.80110977G>CCA401367259GAAc.1588G>C (p.Glu530Gln)
17g.80110977G>TCA401367260GAAc.1588G>T (p.Glu530Ter)
17g.80110977_80110978delinsGACA2277814203GAAc.1588_1589delinsGA (p.Glu530=)
17g.80110978delCA8815386GAAc.1589del (p.Glu530GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2
17g.80110978A>CCA401367262GAAc.1589A>C (p.Glu530Ala)
gnomAD v4
17g.80110978A>GCA401367263GAAc.1589A>G (p.Glu530Gly)
17g.80110978A>TCA401367264GAAc.1589A>T (p.Glu530Val)
17g.80110979G>ACA502178706GAAc.1590G>A (p.Glu530=)
17g.80110979G>CCA401367265GAAc.1590G>C (p.Glu530Asp)
17g.80110979G>TCA401367266GAAc.1590G>T (p.Glu530Asp)
17g.80110980dupCA658795259GAAc.1591dup (p.Asp531GlyfsTer7)
17g.80110980delCA401367267GAAc.1591del (p.Asp531ThrfsTer?)
17g.80110980G>ACA401367268GAAc.1591G>A (p.Asp531Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110980G>CCA401367269GAAc.1591G>C (p.Asp531His)
17g.80110980G=CA2277814204GAAc.1591G= (p.Asp531=)
17g.80110980G>TCA401367270GAAc.1591G>T (p.Asp531Tyr)
17g.80110981A>CCA401367271GAAc.1592A>C (p.Asp531Ala)
17g.80110981A>GCA401367272GAAc.1592A>G (p.Asp531Gly)
17g.80110981A>TCA401367273GAAc.1592A>T (p.Asp531Val)
17g.80110982C>ACA401367275GAAc.1593C>A (p.Asp531Glu)
17g.80110982C=CA2277814205GAAc.1593C= (p.Asp531=)
17g.80110982C>GCA401367274GAAc.1593C>G (p.Asp531Glu)
dbSNP
17g.80110982C>TCA8815387GAAc.1593C>T (p.Asp531=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110982_80110983delinsCGCA2277814206GAAc.1593_1594delinsCG (p.Asp531=)
17g.80110983G>ACA8815388GAAc.1594G>A (p.Gly532Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110983G>CCA401367276GAAc.1594G>C (p.Gly532Arg)
ClinVar
17g.80110983G=CA2277814207GAAc.1594G= (p.Gly532=)
17g.80110983G>TCA294895023GAAc.1594G>T (p.Gly532Cys)
ClinVar dbSNP gnomAD v4
17g.80110984delCA294895015GAAc.1595del (p.Gly532AlafsTer?)
dbSNP
17g.80110984G>ACA401367277GAAc.1595G>A (p.Gly532Asp)
17g.80110984G>CCA401367278GAAc.1595G>C (p.Gly532Ala)
17g.80110984G>TCA401367279GAAc.1595G>T (p.Gly532Val)
17g.80110985C>ACA502178707GAAc.1596C>A (p.Gly532=)
17g.80110985C>GCA502178708GAAc.1596C>G (p.Gly532=)
17g.80110985C>TCA502178709GAAc.1596C>T (p.Gly532=)
17g.80110986T>ACA401367280GAAc.1597T>A (p.Cys533Ser)
17g.80110986T>CCA401367281GAAc.1597T>C (p.Cys533Arg)
dbSNP gnomAD v3 gnomAD v4
17g.80110986T>GCA401367282GAAc.1597T>G (p.Cys533Gly)
17g.80110986T=CA2277814208GAAc.1597T= (p.Cys533=)
17g.80110987G>ACA401367283GAAc.1598G>A (p.Cys533Tyr)
17g.80110987G>CCA401367284GAAc.1598G>C (p.Cys533Ser)
17g.80110987G>TCA401367285GAAc.1598G>T (p.Cys533Phe)
gnomAD v4
17g.80110988C>ACA401367286GAAc.1599C>A (p.Cys533Ter)
17g.80110988C=CA2277814209GAAc.1599C= (p.Cys533=)
17g.80110988C>GCA401367287GAAc.1599C>G (p.Cys533Trp)
17g.80110988C>TCA8815389GAAc.1599C>T (p.Cys533=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110989C>ACA401367288GAAc.1600C>A (p.Pro534Thr)
17g.80110989C>GCA401367290GAAc.1600C>G (p.Pro534Ala)
17g.80110989C>TCA401367289GAAc.1600C>T (p.Pro534Ser)
17g.80110990C>ACA401367291GAAc.1601C>A (p.Pro534His)
17g.80110990C=CA2277814210GAAc.1601C= (p.Pro534=)
17g.80110990C>GCA401367292GAAc.1601C>G (p.Pro534Arg)
ClinVar dbSNP
17g.80110990C>TCA294895032GAAc.1601C>T (p.Pro534Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80110991C>ACA502178710GAAc.1602C>A (p.Pro534=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110991C=CA2277814211GAAc.1602C= (p.Pro534=)
17g.80110991C>GCA502178711GAAc.1602C>G (p.Pro534=)
17g.80110991C>TCA502178712GAAc.1602C>T (p.Pro534=)
17g.80110991_80110994delinsAGGCA913184733GAAc.1602_1605delinsAGG (p.Asn535GlyfsTer?)
ClinVar dbSNP
17g.80110992A>CCA401367293GAAc.1603A>C (p.Asn535His)
17g.80110992A>GCA401367294GAAc.1603A>G (p.Asn535Asp)
17g.80110992A>TCA401367295GAAc.1603A>T (p.Asn535Tyr)
17g.80110993A=CA2277814212GAAc.1604A= (p.Asn535=)
17g.80110993A>CCA401367296GAAc.1604A>C (p.Asn535Thr)
17g.80110993A>GCA401367297GAAc.1604A>G (p.Asn535Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80110993A>TCA401367298GAAc.1604A>T (p.Asn535Ile)
17g.80110994C>ACA401367299GAAc.1605C>A (p.Asn535Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80110994C=CA2277814213GAAc.1605C= (p.Asn535=)
17g.80110994C>GCA401367300GAAc.1605C>G (p.Asn535Lys)
17g.80110994C>TCA502178713GAAc.1605C>T (p.Asn535=)
17g.80110995A=CA2277814214GAAc.1606A= (p.Asn536=)
17g.80110995A>CCA401367301GAAc.1606A>C (p.Asn536His)
17g.80110995A>GCA401367302GAAc.1606A>G (p.Asn536Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80110995A>TCA401367303GAAc.1606A>T (p.Asn536Tyr)
17g.80110995_80110996insCAAAACCAAACACACCCAACACCA2810585819GAAc.1606_1607insCAAAACCAAACACACCCAACAC (p.Asn536ThrfsTer9)
17g.80110996A=CA2277814215GAAc.1607A= (p.Asn536=)
17g.80110996A>CCA401367305GAAc.1607A>C (p.Asn536Thr)
17g.80110996A>GCA8815390GAAc.1607A>G (p.Asn536Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80110996A>TCA401367304GAAc.1607A>T (p.Asn536Ile)
17g.80110997T>ACA401367306GAAc.1608T>A (p.Asn536Lys)
17g.80110997T>CCA502178714GAAc.1608T>C (p.Asn536=)
gnomAD v4
17g.80110997T>GCA401367307GAAc.1608T>G (p.Asn536Lys)
ClinVar dbSNP
17g.80110997T=CA2277814216GAAc.1608T= (p.Asn536=)
17g.80110998G>ACA401367308GAAc.1609G>A (p.Glu537Lys)
17g.80110998G>CCA401367309GAAc.1609G>C (p.Glu537Gln)
17g.80110998G>TCA401367310GAAc.1609G>T (p.Glu537Ter)
17g.80110998_80110999delinsGACA2277814217GAAc.1609_1610delinsGA (p.Glu537=)
17g.80110999delCA8815391GAAc.1610del (p.Glu537GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80110999A>CCA401367311GAAc.1610A>C (p.Glu537Ala)
17g.80110999A>GCA401367312GAAc.1610A>G (p.Glu537Gly)
17g.80110999A>TCA401367313GAAc.1610A>T (p.Glu537Val)
17g.80111000G>ACA502178715GAAc.1611G>A (p.Glu537=)
17g.80111000G>CCA401367314GAAc.1611G>C (p.Glu537Asp)
17g.80111000G=CA2277814218GAAc.1611G= (p.Glu537=)
17g.80111000G>TCA401367315GAAc.1611G>T (p.Glu537Asp)
ClinVar dbSNP gnomAD v4
17g.80111001C>ACA401367316GAAc.1612C>A (p.Leu538Met)
17g.80111001C=CA2277814219GAAc.1612C= (p.Leu538=)
17g.80111001C>GCA401367317GAAc.1612C>G (p.Leu538Val)
17g.80111001C>TCA502178716GAAc.1612C>T (p.Leu538=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80111002T>ACA401367318GAAc.1613T>A (p.Leu538Gln)
c.1T>A
17g.80111002T>CCA401367319GAAc.1613T>C (p.Leu538Pro)
c.1T>C
17g.80111002T>GCA401367320GAAc.1613T>G (p.Leu538Arg)
c.1T>G
17g.80111003G>ACA502178719GAAc.1614G>A (p.Leu538=)
c.2G>A
gnomAD v4
17g.80111003G>CCA502178717GAAc.1614G>C (p.Leu538=)
c.2G>C
17g.80111003G>TCA502178718GAAc.1614G>T (p.Leu538=)
c.2G>T
17g.80111004G>ACA401367321GAAc.1615G>A (p.Glu539Lys)
c.3G>A
17g.80111004G>CCA401367322GAAc.1615G>C (p.Glu539Gln)
c.3G>C
17g.80111004G=CA2277814220GAAc.1615G= (p.Glu539=)
c.3G=
17g.80111004G>TCA401367323GAAc.1615G>T (p.Glu539Ter)
c.3G>T
dbSNP gnomAD v3 gnomAD v4
17g.80111005A>CCA401367324GAAc.1616A>C (p.Glu539Ala)
c.4A>C
17g.80111005A>GCA401367325GAAc.1616A>G (p.Glu539Gly)
c.4A>G
ClinVar
17g.80111005A>TCA401367326GAAc.1616A>T (p.Glu539Val)
c.4A>T
gnomAD v4

Number of alleles fetched