Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204159350_204159374dupCA1011400066RENc.689+28_689+52dup (n.689+28_689+52dup)
c.575+28_575+52dup (n.575+28_575+52dup)
 gnomAD v3 gnomAD v4
1g.204159358T>ACA2650014124RENc.689+41A>T (n.689+41A>T)
c.575+41A>T (n.575+41A>T)
 gnomAD v4
1g.204159358T>CCA1344854RENc.689+41A>G (n.689+41A>G)
c.575+41A>G (n.575+41A>G)
 dbSNP ExAC
1g.204159358T>GCA2650014125RENc.689+41A>C (n.689+41A>C)
c.575+41A>C (n.575+41A>C)
 gnomAD v4
1g.204159358T=CA2482057034RENc.689+41A= (n.689+41A=)
c.575+41A= (n.575+41A=)
1g.204159359C>TCA2747425933RENc.689+40G>A (n.689+40G>A)
c.575+40G>A (n.575+40G>A)
1g.204159360C>GCA2650014126RENc.689+39G>C (n.689+39G>C)
c.575+39G>C (n.575+39G>C)
 gnomAD v4
1g.204159360C>TCA2560636146RENc.689+39G>A (n.689+39G>A)
c.575+39G>A (n.575+39G>A)
1g.204159361T>CCA730338898RENc.689+38A>G (n.689+38A>G)
c.575+38A>G (n.575+38A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204159361T=CA2482057035RENc.689+38A= (n.689+38A=)
c.575+38A= (n.575+38A=)
1g.204159362G>ACA1344855RENc.689+37C>T (n.689+37C>T)
c.575+37C>T (n.575+37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159362G=CA1147791266RENc.689+37C= (n.689+37C=)
c.575+37C= (n.575+37C=)
1g.204159362G>TCA2573984926RENc.689+37C>A (n.689+37C>A)
c.575+37C>A (n.575+37C>A)
 gnomAD v4
1g.204159363T>ACA2573984999RENc.689+36A>T (n.689+36A>T)
c.575+36A>T (n.575+36A>T)
1g.204159363T>CCA2650014127RENc.689+36A>G (n.689+36A>G)
c.575+36A>G (n.575+36A>G)
 gnomAD v4
1g.204159363T=CA2482057036RENc.689+36A= (n.689+36A=)
c.575+36A= (n.575+36A=)
1g.204159364C>ACA2482057038RENc.689+35G>T (n.689+35G>T)
c.575+35G>T (n.575+35G>T)
 dbSNP gnomAD v4
1g.204159364C=CA2482057037RENc.689+35G= (n.689+35G=)
c.575+35G= (n.575+35G=)
1g.204159364C>TCA1344857RENc.689+35G>A (n.689+35G>A)
c.575+35G>A (n.575+35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159364_204159369delinsCCCCCCCA1148414508RENc.689+30_689+35delinsGGGGGG (n.689+30_689+35delinsGGGGGG)
c.575+30_575+35delinsGGGGGG (n.575+30_575+35delinsGGGGGG)
1g.204159369dupCA1344856RENc.689+35dup (n.689+35dup)
c.575+35dup (n.575+35dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159369delCA2573985005RENc.689+35del (n.689+35del)
c.575+35del (n.575+35del)
 gnomAD v4
1g.204159365C>ACA2650014128RENc.689+34G>T (n.689+34G>T)
c.575+34G>T (n.575+34G>T)
 gnomAD v4
1g.204159365C>GCA2747425934RENc.689+34G>C (n.689+34G>C)
c.575+34G>C (n.575+34G>C)
1g.204159365C>TCA2650014129RENc.689+34G>A (n.689+34G>A)
c.575+34G>A (n.575+34G>A)
 gnomAD v4
1g.204159366C>ACA2650014130RENc.689+33G>T (n.689+33G>T)
c.575+33G>T (n.575+33G>T)
 gnomAD v4
1g.204159366C>TCA2747425935RENc.689+33G>A (n.689+33G>A)
c.575+33G>A (n.575+33G>A)
1g.204159367C=CA2482057039RENc.689+32G= (n.689+32G=)
c.575+32G= (n.575+32G=)
1g.204159367C>TCA528190054RENc.689+32G>A (n.689+32G>A)
c.575+32G>A (n.575+32G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.204159368C=CA2482057040RENc.689+31G= (n.689+31G=)
c.575+31G= (n.575+31G=)
1g.204159368C>GCA2482057041RENc.689+31G>C (n.689+31G>C)
c.575+31G>C (n.575+31G>C)
 dbSNP gnomAD v4
1g.204159368C>TCA2482057042RENc.689+31G>A (n.689+31G>A)
c.575+31G>A (n.575+31G>A)
 dbSNP gnomAD v4
1g.204159369C>ACA1344858RENc.689+30G>T (n.689+30G>T)
c.575+30G>T (n.575+30G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159369C=CA2482057043RENc.689+30G= (n.689+30G=)
c.575+30G= (n.575+30G=)
1g.204159369C>GCA1344859RENc.689+30G>C (n.689+30G>C)
c.575+30G>C (n.575+30G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159369C>TCA1011400081RENc.689+30G>A (n.689+30G>A)
c.575+30G>A (n.575+30G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.204159370A>CCA2570395067RENc.689+29T>G (n.689+29T>G)
c.575+29T>G (n.575+29T>G)
1g.204159370A>GCA2650014131RENc.689+29T>C (n.689+29T>C)
c.575+29T>C (n.575+29T>C)
 gnomAD v4
1g.204159370A>TCA2573985028RENc.689+29T>A (n.689+29T>A)
c.575+29T>A (n.575+29T>A)
1g.204159371C>ACA2650014132RENc.689+28G>T (n.689+28G>T)
c.575+28G>T (n.575+28G>T)
 gnomAD v4
1g.204159373T>CCA2650014133RENc.689+26A>G (n.689+26A>G)
c.575+26A>G (n.575+26A>G)
 gnomAD v4
1g.204159376G>ACA1344860RENc.689+23C>T (n.689+23C>T)
c.575+23C>T (n.575+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159376G>CCA2573985033RENc.689+23C>G (n.689+23C>G)
c.575+23C>G (n.575+23C>G)
 gnomAD v4
1g.204159376G=CA2482057044RENc.689+23C= (n.689+23C=)
c.575+23C= (n.575+23C=)
1g.204159376G>TCA2650014134RENc.689+23C>A (n.689+23C>A)
c.575+23C>A (n.575+23C>A)
 gnomAD v4
1g.204159377C>ACA2650014135RENc.689+22G>T (n.689+22G>T)
c.575+22G>T (n.575+22G>T)
 gnomAD v4
1g.204159377C=CA2482057045RENc.689+22G= (n.689+22G=)
c.575+22G= (n.575+22G=)
1g.204159377C>TCA1344861RENc.689+22G>A (n.689+22G>A)
c.575+22G>A (n.575+22G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.204159378C=CA2482057046RENc.689+21G= (n.689+21G=)
c.575+21G= (n.575+21G=)
1g.204159378C>TCA2482057047RENc.689+21G>A (n.689+21G>A)
c.575+21G>A (n.575+21G>A)
 dbSNP gnomAD v4
1g.204159380T>ACA2650014136RENc.689+19A>T (n.689+19A>T)
c.575+19A>T (n.575+19A>T)
 gnomAD v4
1g.204159380T>CCA646367683RENc.689+19A>G (n.689+19A>G)
c.575+19A>G (n.575+19A>G)
 gnomAD v4 COSMIC
1g.204159382G>ACA1011400086RENc.689+17C>T (n.689+17C>T)
c.575+17C>T (n.575+17C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.204159382G=CA2482057048RENc.689+17C= (n.689+17C=)
c.575+17C= (n.575+17C=)
1g.204159383G>ACA2650014137RENc.689+16C>T (n.689+16C>T)
c.575+16C>T (n.575+16C>T)
 gnomAD v4
1g.204159385G>ACA2650014138RENc.689+14C>T (n.689+14C>T)
c.575+14C>T (n.575+14C>T)
 gnomAD v4
1g.204159385G>CCA730338911RENc.689+14C>G (n.689+14C>G)
c.575+14C>G (n.575+14C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204159385G=CA2482057049RENc.689+14C= (n.689+14C=)
c.575+14C= (n.575+14C=)
1g.204159386T>ACA730338915RENc.689+13A>T (n.689+13A>T)
c.575+13A>T (n.575+13A>T)
 dbSNP gnomAD v4
1g.204159386T=CA2482057050RENc.689+13A= (n.689+13A=)
c.575+13A= (n.575+13A=)
1g.204159389C=CA2482057051RENc.689+10G= (n.689+10G=)
c.575+10G= (n.575+10G=)
1g.204159389C>TCA730338918RENc.689+10G>A (n.689+10G>A)
c.575+10G>A (n.575+10G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.204159390A=CA2482057052RENc.689+9T= (n.689+9T=)
c.575+9T= (n.575+9T=)
1g.204159390A>CCA1344862RENc.689+9T>G (n.689+9T>G)
c.575+9T>G (n.575+9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159392T>CCA1011400091RENc.689+7A>G (n.689+7A>G)
c.575+7A>G (n.575+7A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204159392T=CA2482057053RENc.689+7A= (n.689+7A=)
c.575+7A= (n.575+7A=)
1g.204159393C=CA2482057054RENc.689+6G= (n.689+6G=)
c.575+6G= (n.575+6G=)
1g.204159393C>TCA35734497RENc.689+6G>A (n.689+6G>A)
c.575+6G>A (n.575+6G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159395_204159396dupCA913375964RENc.689+5_689+6dup (n.689+5_689+6dup)
c.575+5_575+6dup (n.575+5_575+6dup)
 gnomAD v2 gnomAD v4
1g.204159394C>ACA2650014139RENc.689+5G>T (n.689+5G>T)
c.575+5G>T (n.575+5G>T)
 gnomAD v4
1g.204159394C=CA2482057055RENc.689+5G= (n.689+5G=)
c.575+5G= (n.575+5G=)
1g.204159394C>TCA1344863RENc.689+5G>A (n.689+5G>A)
c.575+5G>A (n.575+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159395C>ACA2650014140RENc.689+4G>T (n.689+4G>T)
c.575+4G>T (n.575+4G>T)
 gnomAD v4
1g.204159395_204159397delinsCCACA2482057056RENc.689+2_689+4delinsTGG (n.689+2_689+4delinsTGG)
c.575+2_575+4delinsTGG (n.575+2_575+4delinsTGG)
1g.204159397_204159398delCA528190055RENc.689+2_689+3del (n.689+2_689+3del)
c.575+2_575+3del (n.575+2_575+3del)
 dbSNP gnomAD v2 gnomAD v4
1g.204159397A>CCA344337510RENc.689+2T>G (n.689+2T>G)
c.575+2T>G (n.575+2T>G)
1g.204159397A>GCA344337514RENc.689+2T>C (n.689+2T>C)
c.575+2T>C (n.575+2T>C)
1g.204159397A>TCA344337518RENc.689+2T>A (n.689+2T>A)
c.575+2T>A (n.575+2T>A)
1g.204159398C>ACA344337525RENc.689+1G>T (n.689+1G>T)
c.575+1G>T (n.575+1G>T)
1g.204159398C=CA2482057057RENc.689+1G= (n.689+1G=)
c.575+1G= (n.575+1G=)
1g.204159398C>GCA344337523RENc.689+1G>C (n.689+1G>C)
c.575+1G>C (n.575+1G>C)
1g.204159398C>TCA35734502RENc.689+1G>A (n.689+1G>A)
c.575+1G>A (n.575+1G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.204159399C>ACA344337528RENc.689G>T (p.Arg230Ile)
c.575G>T (p.Arg192Ile)
 gnomAD v4
1g.204159399C=CA1141581509RENc.689G= (p.Arg230=)
c.575G= (p.Arg192=)
1g.204159399C>GCA344337535RENc.689G>C (p.Arg230Thr)
c.575G>C (p.Arg192Thr)
1g.204159399C>TCA122848RENc.689G>A (p.Arg230Lys)
c.575G>A (p.Arg192Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159400delCA2650014142RENc.688del (p.Arg230GlufsTer?)
c.574del (p.Arg192GlufsTer?)
 gnomAD v4
1g.204159400T>ACA344337540RENc.688A>T (p.Arg230Ter)
c.574A>T (p.Arg192Ter)
1g.204159400T>CCA344337543RENc.688A>G (p.Arg230Gly)
c.574A>G (p.Arg192Gly)
1g.204159400T>GCA422837316RENc.688A>C (p.Arg230=)
c.574A>C (p.Arg192=)
1g.204159401G>ACA1344864RENc.687C>T (p.Asn229=)
c.573C>T (p.Asn191=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159401G>CCA1344865RENc.687C>G (p.Asn229Lys)
c.573C>G (p.Asn191Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159401G=CA2482057058RENc.687C= (p.Asn229=)
c.573C= (p.Asn191=)
1g.204159401G>TCA344337549RENc.687C>A (p.Asn229Lys)
c.573C>A (p.Asn191Lys)
 gnomAD v4
1g.204159402T>ACA344337552RENc.686A>T (p.Asn229Ile)
c.572A>T (p.Asn191Ile)
1g.204159402T>CCA344337554RENc.686A>G (p.Asn229Ser)
c.572A>G (p.Asn191Ser)
 gnomAD v4
1g.204159402T>GCA344337557RENc.686A>C (p.Asn229Thr)
c.572A>C (p.Asn191Thr)
 gnomAD v4
1g.204159403T>ACA1344867RENc.685A>T (p.Asn229Tyr)
c.571A>T (p.Asn191Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159403T>CCA1344866RENc.685A>G (p.Asn229Asp)
c.571A>G (p.Asn191Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159403T>GCA344337565RENc.685A>C (p.Asn229His)
c.571A>C (p.Asn191His)
 gnomAD v4
1g.204159403T=CA1149074997RENc.685A= (p.Asn229=)
c.571A= (p.Asn191=)
1g.204159404G>ACA422837318RENc.684C>T (p.Tyr228=)
c.570C>T (p.Tyr190=)
1g.204159404G>CCA344337568RENc.684C>G (p.Tyr228Ter)
c.570C>G (p.Tyr190Ter)
 gnomAD v4
1g.204159404G>TCA344337571RENc.684C>A (p.Tyr228Ter)
c.570C>A (p.Tyr190Ter)
1g.204159405delCA2573985050RENc.683del (p.Tyr228SerfsTer?)
c.569del (p.Tyr190SerfsTer?)
1g.204159405T>ACA344337574RENc.683A>T (p.Tyr228Phe)
c.569A>T (p.Tyr190Phe)
1g.204159405T>CCA344337575RENc.683A>G (p.Tyr228Cys)
c.569A>G (p.Tyr190Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.204159405T>GCA344337576RENc.683A>C (p.Tyr228Ser)
c.569A>C (p.Tyr190Ser)
 gnomAD v4
1g.204159405T=CA2482057059RENc.683A= (p.Tyr228=)
c.569A= (p.Tyr190=)
1g.204159406A>CCA344337577RENc.682T>G (p.Tyr228Asp)
c.568T>G (p.Tyr190Asp)
1g.204159406A>GCA344337579RENc.682T>C (p.Tyr228His)
c.568T>C (p.Tyr190His)
1g.204159406A>TCA344337581RENc.682T>A (p.Tyr228Asn)
c.568T>A (p.Tyr190Asn)
1g.204159407G>ACA422837320RENc.681C>T (p.Tyr227=)
c.567C>T (p.Tyr189=)
1g.204159407G>CCA344337582RENc.681C>G (p.Tyr227Ter)
c.567C>G (p.Tyr189Ter)
1g.204159407G>TCA344337585RENc.681C>A (p.Tyr227Ter)
c.567C>A (p.Tyr189Ter)
1g.204159408T>ACA344337589RENc.680A>T (p.Tyr227Phe)
c.566A>T (p.Tyr189Phe)
1g.204159408T>CCA344337593RENc.680A>G (p.Tyr227Cys)
c.566A>G (p.Tyr189Cys)
 gnomAD v4 COSMIC
1g.204159408T>GCA344337596RENc.680A>C (p.Tyr227Ser)
c.566A>C (p.Tyr189Ser)
1g.204159409A>CCA344337605RENc.679T>G (p.Tyr227Asp)
c.565T>G (p.Tyr189Asp)
1g.204159409A>GCA344337602RENc.679T>C (p.Tyr227His)
c.565T>C (p.Tyr189His)
 gnomAD v4
1g.204159409A>TCA344337601RENc.679T>A (p.Tyr227Asn)
c.565T>A (p.Tyr189Asn)
1g.204159410G>ACA422837321RENc.678C>T (p.Phe226=)
c.564C>T (p.Phe188=)
1g.204159410G>CCA344337609RENc.678C>G (p.Phe226Leu)
c.564C>G (p.Phe188Leu)
1g.204159410G>TCA344337612RENc.678C>A (p.Phe226Leu)
c.564C>A (p.Phe188Leu)
1g.204159411A>CCA344337616RENc.677T>G (p.Phe226Cys)
c.563T>G (p.Phe188Cys)
1g.204159411A>GCA344337618RENc.677T>C (p.Phe226Ser)
c.563T>C (p.Phe188Ser)
1g.204159411A>TCA344337622RENc.677T>A (p.Phe226Tyr)
c.563T>A (p.Phe188Tyr)
1g.204159413delCA2650014143RENc.677del (p.Phe226SerfsTer?)
c.563del (p.Phe188SerfsTer?)
 gnomAD v4
1g.204159412A>CCA344337625RENc.676T>G (p.Phe226Val)
c.562T>G (p.Phe188Val)
1g.204159412A>GCA344337626RENc.676T>C (p.Phe226Leu)
c.562T>C (p.Phe188Leu)
1g.204159412A>TCA344337629RENc.676T>A (p.Phe226Ile)
c.562T>A (p.Phe188Ile)
1g.204159413A>CCA422837322RENc.675T>G (p.Ser225=)
c.561T>G (p.Ser187=)
1g.204159413A>GCA422837323RENc.675T>C (p.Ser225=)
c.561T>C (p.Ser187=)
1g.204159413A>TCA422837324RENc.675T>A (p.Ser225=)
c.561T>A (p.Ser187=)
1g.204159414G>ACA344337632RENc.674C>T (p.Ser225Phe)
c.560C>T (p.Ser187Phe)
1g.204159414G>CCA344337635RENc.674C>G (p.Ser225Cys)
c.560C>G (p.Ser187Cys)
1g.204159414G>TCA344337638RENc.674C>A (p.Ser225Tyr)
c.560C>A (p.Ser187Tyr)
1g.204159415A>CCA344337642RENc.673T>G (p.Ser225Ala)
c.559T>G (p.Ser187Ala)
1g.204159415A>GCA344337648RENc.673T>C (p.Ser225Pro)
c.559T>C (p.Ser187Pro)
1g.204159415A>TCA344337650RENc.673T>A (p.Ser225Thr)
c.559T>A (p.Ser187Thr)
1g.204159416G>ACA422837325RENc.672C>T (p.Phe224=)
c.558C>T (p.Phe186=)
1g.204159416G>CCA344337657RENc.672C>G (p.Phe224Leu)
c.558C>G (p.Phe186Leu)
1g.204159416G>TCA344337654RENc.672C>A (p.Phe224Leu)
c.558C>A (p.Phe186Leu)
1g.204159417A>CCA344337661RENc.671T>G (p.Phe224Cys)
c.557T>G (p.Phe186Cys)
1g.204159417A>GCA344337666RENc.671T>C (p.Phe224Ser)
c.557T>C (p.Phe186Ser)
1g.204159417A>TCA344337669RENc.671T>A (p.Phe224Tyr)
c.557T>A (p.Phe186Tyr)
1g.204159418A=CA2482057060RENc.670T= (p.Phe224=)
c.556T= (p.Phe186=)
1g.204159418A>CCA344337674RENc.670T>G (p.Phe224Val)
c.556T>G (p.Phe186Val)
1g.204159418A>GCA344337680RENc.670T>C (p.Phe224Leu)
c.556T>C (p.Phe186Leu)
 dbSNP
1g.204159418A>TCA344337682RENc.670T>A (p.Phe224Ile)
c.556T>A (p.Phe186Ile)
1g.204159419G>ACA422837326RENc.669C>T (p.Val223=)
c.555C>T (p.Val185=)
 gnomAD v4
1g.204159419G>CCA422837327RENc.669C>G (p.Val223=)
c.555C>G (p.Val185=)
1g.204159419G>TCA422837328RENc.669C>A (p.Val223=)
c.555C>A (p.Val185=)
1g.204159420A>CCA344337697RENc.668T>G (p.Val223Gly)
c.554T>G (p.Val185Gly)
1g.204159420A>GCA344337702RENc.668T>C (p.Val223Ala)
c.554T>C (p.Val185Ala)
1g.204159420A>TCA344337705RENc.668T>A (p.Val223Asp)
c.554T>A (p.Val185Asp)
1g.204159421C>ACA344337709RENc.667G>T (p.Val223Phe)
c.553G>T (p.Val185Phe)
1g.204159421C=CA2482057061RENc.667G= (p.Val223=)
c.553G= (p.Val185=)
1g.204159421C>GCA344337712RENc.667G>C (p.Val223Leu)
c.553G>C (p.Val185Leu)
1g.204159421C>TCA344337714RENc.667G>A (p.Val223Ile)
c.553G>A (p.Val185Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159422G>ACA1344868RENc.666C>T (p.Asp222=)
c.552C>T (p.Asp184=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159422G>CCA344337721RENc.666C>G (p.Asp222Glu)
c.552C>G (p.Asp184Glu)
1g.204159422G=CA2482057062RENc.666C= (p.Asp222=)
c.552C= (p.Asp184=)
1g.204159422G>TCA344337717RENc.666C>A (p.Asp222Glu)
c.552C>A (p.Asp184Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159423T>ACA344337726RENc.665A>T (p.Asp222Val)
c.551A>T (p.Asp184Val)
1g.204159423T>CCA344337728RENc.665A>G (p.Asp222Gly)
c.551A>G (p.Asp184Gly)
1g.204159423T>GCA344337732RENc.665A>C (p.Asp222Ala)
c.551A>C (p.Asp184Ala)
1g.204159424C>ACA344337735RENc.664G>T (p.Asp222Tyr)
c.550G>T (p.Asp184Tyr)
1g.204159424C=CA2482057063RENc.664G= (p.Asp222=)
c.550G= (p.Asp184=)
1g.204159424C>GCA344337738RENc.664G>C (p.Asp222His)
c.550G>C (p.Asp184His)
1g.204159424C>TCA344337742RENc.664G>A (p.Asp222Asn)
c.550G>A (p.Asp184Asn)
 dbSNP
1g.204159425C>ACA344337745RENc.663G>T (p.Glu221Asp)
c.549G>T (p.Glu183Asp)
1g.204159425C=CA1140500460RENc.663G= (p.Glu221=)
c.549G= (p.Glu183=)
1g.204159425C>GCA344337746RENc.663G>C (p.Glu221Asp)
c.549G>C (p.Glu183Asp)
1g.204159425C>TCA1344869RENc.663G>A (p.Glu221=)
c.549G>A (p.Glu183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159426T>ACA344337747RENc.662A>T (p.Glu221Val)
c.548A>T (p.Glu183Val)
 gnomAD v4
1g.204159426T>CCA344337748RENc.662A>G (p.Glu221Gly)
c.548A>G (p.Glu183Gly)
1g.204159426T>GCA344337750RENc.662A>C (p.Glu221Ala)
c.548A>C (p.Glu183Ala)
1g.204159427C>ACA344337753RENc.661G>T (p.Glu221Ter)
c.547G>T (p.Glu183Ter)
1g.204159427C=CA2482057064RENc.661G= (p.Glu221=)
c.547G= (p.Glu183=)
1g.204159427C>GCA344337755RENc.661G>C (p.Glu221Gln)
c.547G>C (p.Glu183Gln)
 gnomAD v4
1g.204159427C>TCA344337752RENc.661G>A (p.Glu221Lys)
c.547G>A (p.Glu183Lys)
 ClinVar dbSNP gnomAD v4
1g.204159428T>ACA344337758RENc.660A>T (p.Lys220Asn)
c.546A>T (p.Lys182Asn)
1g.204159428T>CCA422837331RENc.660A>G (p.Lys220=)
c.546A>G (p.Lys182=)
1g.204159428T>GCA344337760RENc.660A>C (p.Lys220Asn)
c.546A>C (p.Lys182Asn)
1g.204159429T>ACA344337764RENc.659A>T (p.Lys220Ile)
c.545A>T (p.Lys182Ile)
1g.204159429T>CCA344337767RENc.659A>G (p.Lys220Arg)
c.545A>G (p.Lys182Arg)
1g.204159429T>GCA344337770RENc.659A>C (p.Lys220Thr)
c.545A>C (p.Lys182Thr)
1g.204159430T>ACA344337782RENc.658A>T (p.Lys220Ter)
c.544A>T (p.Lys182Ter)
1g.204159430T>CCA344337774RENc.658A>G (p.Lys220Glu)
c.544A>G (p.Lys182Glu)
 gnomAD v4
1g.204159430T>GCA344337779RENc.658A>C (p.Lys220Gln)
c.544A>C (p.Lys182Gln)
1g.204159431T>ACA422837332RENc.657A>T (p.Leu219=)
c.543A>T (p.Leu181=)
1g.204159431T>CCA422837333RENc.657A>G (p.Leu219=)
c.543A>G (p.Leu181=)
1g.204159431T>GCA422837334RENc.657A>C (p.Leu219=)
c.543A>C (p.Leu181=)
1g.204159432A>CCA344337785RENc.656T>G (p.Leu219Arg)
c.542T>G (p.Leu181Arg)
1g.204159432A>GCA344337788RENc.656T>C (p.Leu219Pro)
c.542T>C (p.Leu181Pro)
1g.204159432A>TCA344337790RENc.656T>A (p.Leu219Gln)
c.542T>A (p.Leu181Gln)
1g.204159433G>ACA1344870RENc.655C>T (p.Leu219=)
c.541C>T (p.Leu181=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159433G>CCA344337794RENc.655C>G (p.Leu219Val)
c.541C>G (p.Leu181Val)
1g.204159433G=CA2482057065RENc.655C= (p.Leu219=)
c.541C= (p.Leu181=)
1g.204159433G>TCA344337797RENc.655C>A (p.Leu219Ile)
c.541C>A (p.Leu181Ile)
 gnomAD v4 COSMIC
1g.204159434C>ACA422837335RENc.654G>T (p.Val218=)
c.540G>T (p.Val180=)
1g.204159434C>GCA422837336RENc.654G>C (p.Val218=)
c.540G>C (p.Val180=)
1g.204159434C>TCA422837337RENc.654G>A (p.Val218=)
c.540G>A (p.Val180=)
1g.204159435A>CCA344337804RENc.653T>G (p.Val218Gly)
c.539T>G (p.Val180Gly)
1g.204159435A>GCA344337809RENc.653T>C (p.Val218Ala)
c.539T>C (p.Val180Ala)
1g.204159435A>TCA344337801RENc.653T>A (p.Val218Glu)
c.539T>A (p.Val180Glu)
1g.204159436C>ACA1344871RENc.652G>T (p.Val218Leu)
c.538G>T (p.Val180Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159436C=CA2482057066RENc.652G= (p.Val218=)
c.538G= (p.Val180=)
1g.204159436C>GCA344337813RENc.652G>C (p.Val218Leu)
c.538G>C (p.Val180Leu)
1g.204159436C>TCA344337817RENc.652G>A (p.Val218Met)
c.538G>A (p.Val180Met)
 dbSNP gnomAD v2 gnomAD v4
1g.204159437C>ACA422837338RENc.651G>T (p.Gly217=)
c.537G>T (p.Gly179=)
 dbSNP gnomAD v2 gnomAD v4
1g.204159437C=CA2482057067RENc.651G= (p.Gly217=)
c.537G= (p.Gly179=)
1g.204159437C>GCA422837339RENc.651G>C (p.Gly217=)
c.537G>C (p.Gly179=)
 gnomAD v4
1g.204159437C>TCA422837340RENc.651G>A (p.Gly217=)
c.537G>A (p.Gly179=)
 dbSNP gnomAD v4
1g.204159438C>ACA344337822RENc.650G>T (p.Gly217Val)
c.536G>T (p.Gly179Val)
1g.204159438C>GCA344337824RENc.650G>C (p.Gly217Ala)
c.536G>C (p.Gly179Ala)
1g.204159438C>TCA344337827RENc.650G>A (p.Gly217Glu)
c.536G>A (p.Gly179Glu)
 ClinVar
1g.204159439C>ACA344337830RENc.649G>T (p.Gly217Trp)
c.535G>T (p.Gly179Trp)
1g.204159439C=CA1140266209RENc.649G= (p.Gly217=)
c.535G= (p.Gly179=)
1g.204159439C>GCA344337834RENc.649G>C (p.Gly217Arg)
c.535G>C (p.Gly179Arg)
1g.204159439C>TCA1344872RENc.649G>A (p.Gly217Arg)
c.535G>A (p.Gly179Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159440T>ACA344337840RENc.648A>T (p.Gln216His)
c.534A>T (p.Gln178His)
1g.204159440T>CCA35734550RENc.648A>G (p.Gln216=)
c.534A>G (p.Gln178=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159440T>GCA344337843RENc.648A>C (p.Gln216His)
c.534A>C (p.Gln178His)
1g.204159440T=CA2482057068RENc.648A= (p.Gln216=)
c.534A= (p.Gln178=)
1g.204159441T>ACA344337846RENc.647A>T (p.Gln216Leu)
c.533A>T (p.Gln178Leu)
1g.204159441T>CCA344337848RENc.647A>G (p.Gln216Arg)
c.533A>G (p.Gln178Arg)
 gnomAD v4
1g.204159441T>GCA344337851RENc.647A>C (p.Gln216Pro)
c.533A>C (p.Gln178Pro)
1g.204159442G>ACA344337856RENc.646C>T (p.Gln216Ter)
c.532C>T (p.Gln178Ter)
1g.204159442G>CCA344337860RENc.646C>G (p.Gln216Glu)
c.532C>G (p.Gln178Glu)
1g.204159442G>TCA344337862RENc.646C>A (p.Gln216Lys)
c.532C>A (p.Gln178Lys)
1g.204159443G>ACA422837346RENc.645C>T (p.Ser215=)
c.531C>T (p.Ser177=)
1g.204159443G>CCA422837344RENc.645C>G (p.Ser215=)
c.531C>G (p.Ser177=)
1g.204159443G>TCA422837343RENc.645C>A (p.Ser215=)
c.531C>A (p.Ser177=)
1g.204159444G>ACA344337874RENc.644C>T (p.Ser215Phe)
c.530C>T (p.Ser177Phe)
 gnomAD v4
1g.204159444G>CCA344337868RENc.644C>G (p.Ser215Cys)
c.530C>G (p.Ser177Cys)
1g.204159444G=CA2482057069RENc.644C= (p.Ser215=)
c.530C= (p.Ser177=)
1g.204159444G>TCA1344873RENc.644C>A (p.Ser215Tyr)
c.530C>A (p.Ser177Tyr)
 dbSNP ExAC gnomAD v2
1g.204159445A>CCA344337878RENc.643T>G (p.Ser215Ala)
c.529T>G (p.Ser177Ala)
1g.204159445A>GCA344337883RENc.643T>C (p.Ser215Pro)
c.529T>C (p.Ser177Pro)
1g.204159445A>TCA344337885RENc.643T>A (p.Ser215Thr)
c.529T>A (p.Ser177Thr)
1g.204159446G>ACA422837349RENc.642C>T (p.Ile214=)
c.528C>T (p.Ile176=)
 COSMIC
1g.204159446G>CCA344337888RENc.642C>G (p.Ile214Met)
c.528C>G (p.Ile176Met)
1g.204159446G>TCA422837347RENc.642C>A (p.Ile214=)
c.528C>A (p.Ile176=)
1g.204159447A>CCA344337890RENc.641T>G (p.Ile214Ser)
c.527T>G (p.Ile176Ser)
1g.204159447A>GCA344337892RENc.641T>C (p.Ile214Thr)
c.527T>C (p.Ile176Thr)
1g.204159447A>TCA344337893RENc.641T>A (p.Ile214Asn)
c.527T>A (p.Ile176Asn)
1g.204159448T>ACA344337895RENc.640A>T (p.Ile214Phe)
c.526A>T (p.Ile176Phe)
 gnomAD v4
1g.204159448T>CCA1344874RENc.640A>G (p.Ile214Val)
c.526A>G (p.Ile176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159448T>GCA344337898RENc.640A>C (p.Ile214Leu)
c.526A>C (p.Ile176Leu)
1g.204159448T=CA1143677533RENc.640A= (p.Ile214=)
c.526A= (p.Ile176=)
1g.204159449G>ACA422837352RENc.639C>T (p.Ile213=)
c.525C>T (p.Ile175=)
1g.204159449G>CCA344337900RENc.639C>G (p.Ile213Met)
c.525C>G (p.Ile175Met)
1g.204159449G>TCA422837354RENc.639C>A (p.Ile213=)
c.525C>A (p.Ile175=)
1g.204159450A>CCA344337902RENc.638T>G (p.Ile213Ser)
c.524T>G (p.Ile175Ser)
1g.204159450A>GCA344337908RENc.638T>C (p.Ile213Thr)
c.524T>C (p.Ile175Thr)
1g.204159450A>TCA344337911RENc.638T>A (p.Ile213Asn)
c.524T>A (p.Ile175Asn)
 gnomAD v4
1g.204159451T>ACA344337918RENc.637A>T (p.Ile213Phe)
c.523A>T (p.Ile175Phe)
1g.204159451T>CCA35734553RENc.637A>G (p.Ile213Val)
c.523A>G (p.Ile175Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.204159451T>GCA344337913RENc.637A>C (p.Ile213Leu)
c.523A>C (p.Ile175Leu)
1g.204159451T=CA2482057070RENc.637A= (p.Ile213=)
c.523A= (p.Ile175=)
1g.204159452G>ACA422837357RENc.636C>T (p.Asn212=)
c.522C>T (p.Asn174=)
 gnomAD v4
1g.204159452G>CCA344337919RENc.636C>G (p.Asn212Lys)
c.522C>G (p.Asn174Lys)
1g.204159452G>TCA344337920RENc.636C>A (p.Asn212Lys)
c.522C>A (p.Asn174Lys)
1g.204159453T>ACA35734557RENc.635A>T (p.Asn212Ile)
c.521A>T (p.Asn174Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.204159453T>CCA1344875RENc.635A>G (p.Asn212Ser)
c.521A>G (p.Asn174Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159453T>GCA344337921RENc.635A>C (p.Asn212Thr)
c.521A>C (p.Asn174Thr)
1g.204159453T=CA2482057071RENc.635A= (p.Asn212=)
c.521A= (p.Asn174=)
1g.204159454T>ACA344337923RENc.634A>T (p.Asn212Tyr)
c.520A>T (p.Asn174Tyr)
1g.204159454T>CCA344337924RENc.634A>G (p.Asn212Asp)
c.520A>G (p.Asn174Asp)
1g.204159454T>GCA344337926RENc.634A>C (p.Asn212His)
c.520A>C (p.Asn174His)
1g.204159455G>ACA422837361RENc.633C>T (p.Asp211=)
c.519C>T (p.Asp173=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159455G>CCA344337928RENc.633C>G (p.Asp211Glu)
c.519C>G (p.Asp173Glu)
1g.204159455G=CA2482057072RENc.633C= (p.Asp211=)
c.519C= (p.Asp173=)
1g.204159455G>TCA344337930RENc.633C>A (p.Asp211Glu)
c.519C>A (p.Asp173Glu)
1g.204159456T>ACA344337933RENc.632A>T (p.Asp211Val)
c.518A>T (p.Asp173Val)
1g.204159456T>CCA344337934RENc.632A>G (p.Asp211Gly)
c.518A>G (p.Asp173Gly)
1g.204159456T>GCA344337936RENc.632A>C (p.Asp211Ala)
c.518A>C (p.Asp173Ala)
1g.204159457C>ACA344337938RENc.631G>T (p.Asp211Tyr)
c.517G>T (p.Asp173Tyr)
1g.204159457C=CA2482057073RENc.631G= (p.Asp211=)
c.517G= (p.Asp173=)
1g.204159457C>GCA1344876RENc.631G>C (p.Asp211His)
c.517G>C (p.Asp173His)
 dbSNP ExAC gnomAD v2
1g.204159457C>TCA1344877RENc.631G>A (p.Asp211Asn)
c.517G>A (p.Asp173Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159458G>ACA1344878RENc.630C>T (p.Phe210=)
c.516C>T (p.Phe172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159458G>CCA344337940RENc.630C>G (p.Phe210Leu)
c.516C>G (p.Phe172Leu)
1g.204159458G=CA1141821412RENc.630C= (p.Phe210=)
c.516C= (p.Phe172=)
1g.204159458G>TCA344337941RENc.630C>A (p.Phe210Leu)
c.516C>A (p.Phe172Leu)

Number of alleles fetched