Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41136990_41137022dupCA2693506275USP9Xc.622_654dup (p.Lys218_Gly219insPheAlaArgSerProAspProArgSerProLys)
gnomAD v4
Xg.41136995T>ACA515966639USP9Xc.627T>A (p.Ala209=)
Xg.41136995T>CCA515966640USP9Xc.627T>C (p.Ala209=)
Xg.41136995T>GCA515966641USP9Xc.627T>G (p.Ala209=)
Xg.41136996C>ACA412763568USP9Xc.628C>A (p.Arg210Ser)
Xg.41136996C=CA2425806626USP9Xc.628C= (p.Arg210=)
Xg.41136996C>GCA412763571USP9Xc.628C>G (p.Arg210Gly)
COSMIC COSMIC
Xg.41136996C>TCA412763572USP9Xc.628C>T (p.Arg210Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41136997G>ACA412763575USP9Xc.629G>A (p.Arg210His)
dbSNP gnomAD v3 gnomAD v4
Xg.41136997G>CCA412763577USP9Xc.629G>C (p.Arg210Pro)
Xg.41136997G=CA2425806627USP9Xc.629G= (p.Arg210=)
Xg.41136997G>TCA412763578USP9Xc.629G>T (p.Arg210Leu)
Xg.41136998T>ACA515966642USP9Xc.630T>A (p.Arg210=)
Xg.41136998T>CCA515966643USP9Xc.630T>C (p.Arg210=)
gnomAD v4
Xg.41136998T>GCA515966644USP9Xc.630T>G (p.Arg210=)
Xg.41136999T>ACA412763580USP9Xc.631T>A (p.Ser211Thr)
Xg.41136999T>CCA412763582USP9Xc.631T>C (p.Ser211Pro)
Xg.41136999T>GCA412763584USP9Xc.631T>G (p.Ser211Ala)
Xg.41137000C>ACA412763586USP9Xc.632C>A (p.Ser211Tyr)
Xg.41137000C>GCA412763588USP9Xc.632C>G (p.Ser211Cys)
Xg.41137000C>TCA412763590USP9Xc.632C>T (p.Ser211Phe)
Xg.41137001T>ACA515966645USP9Xc.633T>A (p.Ser211=)
dbSNP gnomAD v3 gnomAD v4
Xg.41137001T>CCA515966647USP9Xc.633T>C (p.Ser211=)
Xg.41137001T>GCA515966646USP9Xc.633T>G (p.Ser211=)
Xg.41137001T=CA2425806628USP9Xc.633T= (p.Ser211=)
Xg.41137002C>ACA412763596USP9Xc.634C>A (p.Pro212Thr)
Xg.41137002C>GCA412763594USP9Xc.634C>G (p.Pro212Ala)
Xg.41137002C>TCA412763592USP9Xc.634C>T (p.Pro212Ser)
Xg.41137003C>ACA412763600USP9Xc.635C>A (p.Pro212Gln)
Xg.41137003C=CA2425806629USP9Xc.635C= (p.Pro212=)
Xg.41137003C>GCA412763598USP9Xc.635C>G (p.Pro212Arg)
Xg.41137003C>TCA10388331USP9Xc.635C>T (p.Pro212Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137004A>CCA515966651USP9Xc.636A>C (p.Pro212=)
Xg.41137004A>GCA515966652USP9Xc.636A>G (p.Pro212=)
Xg.41137004A>TCA515966653USP9Xc.636A>T (p.Pro212=)
Xg.41137005G>ACA412763604USP9Xc.637G>A (p.Asp213Asn)
Xg.41137005G>CCA412763608USP9Xc.637G>C (p.Asp213His)
Xg.41137005G>TCA412763606USP9Xc.637G>T (p.Asp213Tyr)
Xg.41137006A>CCA412763610USP9Xc.638A>C (p.Asp213Ala)
Xg.41137006A>GCA412763612USP9Xc.638A>G (p.Asp213Gly)
Xg.41137006A>TCA412763614USP9Xc.638A>T (p.Asp213Val)
Xg.41137007T>ACA412763616USP9Xc.639T>A (p.Asp213Glu)
Xg.41137007T>CCA515966654USP9Xc.639T>C (p.Asp213=)
Xg.41137007T>GCA412763618USP9Xc.639T>G (p.Asp213Glu)
Xg.41137008C>ACA412763620USP9Xc.640C>A (p.Pro214Thr)
Xg.41137008C=CA2425806630USP9Xc.640C= (p.Pro214=)
Xg.41137008C>GCA10581418USP9Xc.640C>G (p.Pro214Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137008C>TCA412763624USP9Xc.640C>T (p.Pro214Ser)
Xg.41137009C>ACA412763626USP9Xc.641C>A (p.Pro214His)
Xg.41137009C>GCA412763628USP9Xc.641C>G (p.Pro214Arg)
Xg.41137009C>TCA412763630USP9Xc.641C>T (p.Pro214Leu)
Xg.41137010T>ACA515966655USP9Xc.642T>A (p.Pro214=)
Xg.41137010T>CCA515966656USP9Xc.642T>C (p.Pro214=)
Xg.41137010T>GCA515966657USP9Xc.642T>G (p.Pro214=)
Xg.41137011C>ACA515966658USP9Xc.643C>A (p.Arg215=)
gnomAD v4
Xg.41137011C=CA2425806631USP9Xc.643C= (p.Arg215=)
Xg.41137011C>GCA412763632USP9Xc.643C>G (p.Arg215Gly)
Xg.41137011C>TCA16608464USP9Xc.643C>T (p.Arg215Ter)
ClinVar dbSNP
Xg.41137012G>ACA412763639USP9Xc.644G>A (p.Arg215Gln)
Xg.41137012G>CCA412763637USP9Xc.644G>C (p.Arg215Pro)
Xg.41137012G>TCA412763635USP9Xc.644G>T (p.Arg215Leu)
dbSNP COSMIC COSMIC
Xg.41137013A=CA2425806632USP9Xc.645A= (p.Arg215=)
Xg.41137013A>CCA515966662USP9Xc.645A>C (p.Arg215=)
Xg.41137013A>GCA10388332USP9Xc.645A>G (p.Arg215=)
dbSNP ExAC gnomAD v2
Xg.41137013A>TCA515966663USP9Xc.645A>T (p.Arg215=)
Xg.41137014T>ACA412763642USP9Xc.646T>A (p.Ser216Thr)
Xg.41137014T>CCA412763644USP9Xc.646T>C (p.Ser216Pro)
Xg.41137014T>GCA412763646USP9Xc.646T>G (p.Ser216Ala)
Xg.41137015C>ACA412763649USP9Xc.647C>A (p.Ser216Ter)
Xg.41137015C>GCA412763650USP9Xc.647C>G (p.Ser216Ter)
Xg.41137015C>TCA412763652USP9Xc.647C>T (p.Ser216Leu)
Xg.41137016A>CCA515966668USP9Xc.648A>C (p.Ser216=)
Xg.41137016A>GCA515966665USP9Xc.648A>G (p.Ser216=)
Xg.41137016A>TCA515966666USP9Xc.648A>T (p.Ser216=)
Xg.41137017C>ACA412763654USP9Xc.649C>A (p.Pro217Thr)
Xg.41137017C>GCA412763656USP9Xc.649C>G (p.Pro217Ala)
Xg.41137017C>TCA412763658USP9Xc.649C>T (p.Pro217Ser)
Xg.41137018C>ACA412763660USP9Xc.650C>A (p.Pro217Gln)
Xg.41137018C>GCA412763663USP9Xc.650C>G (p.Pro217Arg)
Xg.41137018C>TCA412763664USP9Xc.650C>T (p.Pro217Leu)
Xg.41137019A>CCA515966670USP9Xc.651A>C (p.Pro217=)
Xg.41137019A>GCA515966671USP9Xc.651A>G (p.Pro217=)
Xg.41137019A>TCA515966672USP9Xc.651A>T (p.Pro217=)
Xg.41137020A>CCA412763668USP9Xc.652A>C (p.Lys218Gln)
Xg.41137020A>GCA412763670USP9Xc.652A>G (p.Lys218Glu)
Xg.41137020A>TCA412763667USP9Xc.652A>T (p.Lys218Ter)
Xg.41137021A>CCA412763673USP9Xc.653A>C (p.Lys218Thr)
Xg.41137021A>GCA412763674USP9Xc.653A>G (p.Lys218Arg)
Xg.41137021A>TCA412763676USP9Xc.653A>T (p.Lys218Met)
Xg.41137022G>ACA515966673USP9Xc.654G>A (p.Lys218=)
Xg.41137022G>CCA412763678USP9Xc.654G>C (p.Lys218Asn)
Xg.41137022G>TCA412763680USP9Xc.654G>T (p.Lys218Asn)
Xg.41137023G>ACA412763683USP9Xc.654+1G>A (n.654+1G>A)
Xg.41137023G>CCA412763684USP9Xc.654+1G>C (n.654+1G>C)
Xg.41137023G>TCA412763686USP9Xc.654+1G>T (n.654+1G>T)
Xg.41137024T>ACA412763689USP9Xc.654+2T>A (n.654+2T>A)
Xg.41137024T>CCA412763691USP9Xc.654+2T>C (n.654+2T>C)
Xg.41137024T>GCA412763692USP9Xc.654+2T>G (n.654+2T>G)
Xg.41137026T>ACA2579587374USP9Xc.654+4T>A (n.654+4T>A)
Xg.41137026T>CCA10388333USP9Xc.654+4T>C (n.654+4T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137026T=CA2425806633USP9Xc.654+4T= (n.654+4T=)
Xg.41137028T>CCA2820574402USP9Xc.654+6T>C (n.654+6T>C)
Xg.41137031delCA2579587375USP9Xc.654+9del (n.654+9del)
gnomAD v4
Xg.41137031G>ACA2820574405USP9Xc.654+9G>A (n.654+9G>A)
Xg.41137031G=CA2425806634USP9Xc.654+9G= (n.654+9G=)
Xg.41137031G>TCA2582342900USP9Xc.654+9G>T (n.654+9G>T)
ClinVar gnomAD v4
Xg.41137031_41137032insGTGTGCA2820574404USP9Xc.654+9_654+10insGTGTG (n.654+9_654+10insGTGTG)
Xg.41137032T>ACA10388335USP9Xc.654+10T>A (n.654+10T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137032T=CA2425806635USP9Xc.654+10T= (n.654+10T=)
Xg.41137034dupCA875381794USP9Xc.654+12dup (n.654+12dup)
dbSNP
Xg.41137032_41137035delinsTTTGCA2425806636USP9Xc.654+10_654+13delinsTTTG (n.654+10_654+13delinsTTTG)
Xg.41137035_41137037delCA10388334USP9Xc.654+13_654+15del (n.654+13_654+15del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137034T>GCA10388337USP9Xc.654+12T>G (n.654+12T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137034T=CA2425806637USP9Xc.654+12T= (n.654+12T=)
Xg.41137034_41137038delinsTGTTACA2425806638USP9Xc.654+12_654+16delinsTGTTA (n.654+12_654+16delinsTGTTA)
Xg.41137035G=CA2425806639USP9Xc.654+13G= (n.654+13G=)
Xg.41137035G>TCA10388338USP9Xc.654+13G>T (n.654+13G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137035_41137038delCA10388336USP9Xc.654+13_654+16del (n.654+13_654+16del)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137038A=CA2425806640USP9Xc.654+16A= (n.654+16A=)
Xg.41137038A>GCA2425806641USP9Xc.654+16A>G (n.654+16A>G)
dbSNP
Xg.41137039T>CCA2697553019USP9Xc.654+17T>C (n.654+17T>C)
ClinVar
Xg.41137041T>CCA2693506276USP9Xc.654+19T>C (n.654+19T>C)
gnomAD v4
Xg.41137043C>ACA2693506277USP9Xc.654+21C>A (n.654+21C>A)
gnomAD v4
Xg.41137044A>CCA2693506279USP9Xc.654+22A>C (n.654+22A>C)
gnomAD v4
Xg.41137045_41137097delCA2693506278USP9Xc.654+23_654+75del (n.654+23_654+75del)
gnomAD v4
Xg.41137045A=CA2425806642USP9Xc.654+23A= (n.654+23A=)
Xg.41137045A>GCA875381802USP9Xc.654+23A>G (n.654+23A>G)
dbSNP gnomAD v4
Xg.41137046A>GCA2693506280USP9Xc.654+24A>G (n.654+24A>G)
gnomAD v4
Xg.41137049T>ACA2579587376USP9Xc.654+27T>A (n.654+27T>A)
gnomAD v4
Xg.41137049_41137054delinsTAAATACA2425806643USP9Xc.654+27_654+32delinsTAAATA (n.654+27_654+32delinsTAAATA)
Xg.41137051_41137055delCA10388339USP9Xc.654+29_654+33del (n.654+29_654+33del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137051A>TCA2693506281USP9Xc.654+29A>T (n.654+29A>T)
gnomAD v4
Xg.41137054_41137058delinsAATACCA2425806644USP9Xc.654+32_654+36delinsAATAC (n.654+32_654+36delinsAATAC)
Xg.41137055A=CA2425806645USP9Xc.654+33A= (n.654+33A=)
Xg.41137055A>GCA10388341USP9Xc.654+33A>G (n.654+33A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137055_41137056delinsATCA2425806646USP9Xc.654+33_654+34delinsAT (n.654+33_654+34delinsAT)
Xg.41137056_41137059delCA10388340USP9Xc.654+34_654+37del (n.654+34_654+37del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137056delCA2425806647USP9Xc.654+34del (n.654+34del)
dbSNP
Xg.41137056T>CCA2567337059USP9Xc.654+34T>C (n.654+34T>C)
Xg.41137057A=CA2425806648USP9Xc.654+35A= (n.654+35A=)
Xg.41137057A>GCA641899664USP9Xc.654+35A>G (n.654+35A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137057dupCA2693506282USP9Xc.654+35dup (n.654+35dup)
gnomAD v4
Xg.41137058C>ACA329012410USP9Xc.654+36C>A (n.654+36C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137058C=CA2425806649USP9Xc.654+36C= (n.654+36C=)
Xg.41137058C>GCA2425806650USP9Xc.654+36C>G (n.654+36C>G)
dbSNP
Xg.41137059A=CA2425806651USP9Xc.654+37A= (n.654+37A=)
Xg.41137059A>GCA2425806652USP9Xc.654+37A>G (n.654+37A>G)
dbSNP gnomAD v4
Xg.41137060A=CA2425806653USP9Xc.654+38A= (n.654+38A=)
Xg.41137060A>GCA10388342USP9Xc.654+38A>G (n.654+38A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137060A>TCA2425806654USP9Xc.654+38A>T (n.654+38A>T)
dbSNP gnomAD v4
Xg.41137060_41137061insGGCA10388343USP9Xc.654+38_654+39insGG (n.654+38_654+39insGG)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137061T>CCA2693506284USP9Xc.654+39T>C (n.654+39T>C)
gnomAD v4
Xg.41137061T>GCA2425806656USP9Xc.654+39T>G (n.654+39T>G)
dbSNP
Xg.41137061T=CA2425806655USP9Xc.654+39T= (n.654+39T=)
Xg.41137063_41137065delCA2693506283USP9Xc.654+41_654+43del (n.654+41_654+43del)
gnomAD v4
Xg.41137061_41137062insGCA10388344USP9Xc.654+39_654+40insG (n.654+39_654+40insG)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137062T>ACA641899665USP9Xc.654+40T>A (n.654+40T>A)
dbSNP gnomAD v2 gnomAD v4
Xg.41137062T=CA2425806657USP9Xc.654+40T= (n.654+40T=)
Xg.41137068G>ACA641899666USP9Xc.654+46G>A (n.654+46G>A)
dbSNP gnomAD v2 gnomAD v4
Xg.41137068G=CA2425806658USP9Xc.654+46G= (n.654+46G=)
Xg.41137068G>TCA2425806659USP9Xc.654+46G>T (n.654+46G>T)
dbSNP
Xg.41137069T>CCA10388345USP9Xc.654+47T>C (n.654+47T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41137069T=CA2425806660USP9Xc.654+47T= (n.654+47T=)
Xg.41137071C>ACA2693506285USP9Xc.654+49C>A (n.654+49C>A)
gnomAD v4
Xg.41137072T>GCA875381821USP9Xc.654+50T>G (n.654+50T>G)
dbSNP
Xg.41137072T=CA2425806661USP9Xc.654+50T= (n.654+50T=)
Xg.41137073G>ACA515966679USP9Xc.654+51G>A (n.654+51G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137073G=CA2425806662USP9Xc.654+51G= (n.654+51G=)
Xg.41137073G>TCA2693506286USP9Xc.654+51G>T (n.654+51G>T)
gnomAD v4
Xg.41137074A=CA2425806663USP9Xc.654+52A= (n.654+52A=)
Xg.41137075C>ACA2579587377USP9Xc.654+53C>A (n.654+53C>A)
gnomAD v4
Xg.41137075C=CA2425806664USP9Xc.654+53C= (n.654+53C=)
Xg.41137075C>TCA2425806665USP9Xc.654+53C>T (n.654+53C>T)
dbSNP
Xg.41137075dupCA875381836USP9Xc.654+53dup (n.654+53dup)
dbSNP gnomAD v3 gnomAD v4
Xg.41137077C>ACA2693506287USP9Xc.654+55C>A (n.654+55C>A)
gnomAD v4
Xg.41137077C=CA2425806666USP9Xc.654+55C= (n.654+55C=)
Xg.41137077C>GCA329012416USP9Xc.654+55C>G (n.654+55C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41137077C>TCA658184954USP9Xc.654+55C>T (n.654+55C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.41137078A>GCA2693506288USP9Xc.654+56A>G (n.654+56A>G)
gnomAD v4
Xg.41137078A>TCA2693506289USP9Xc.654+56A>T (n.654+56A>T)
gnomAD v4
Xg.41137079G>CCA2579587378USP9Xc.654+57G>C (n.654+57G>C)
Xg.41137079G>TCA2693506290USP9Xc.654+57G>T (n.654+57G>T)
gnomAD v4
Xg.41137083C>ACA2693506291USP9Xc.654+61C>A (n.654+61C>A)
gnomAD v4
Xg.41137085T>ACA2693506292USP9Xc.654+63T>A (n.654+63T>A)
gnomAD v4
Xg.41137086C>ACA2693506293USP9Xc.654+64C>A (n.654+64C>A)
gnomAD v4
Xg.41137086C=CA2425806667USP9Xc.654+64C= (n.654+64C=)
Xg.41137086C>TCA641899667USP9Xc.654+64C>T (n.654+64C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.41137088G>ACA2579587379USP9Xc.654+66G>A (n.654+66G>A)
Xg.41137089T>ACA2693506294USP9Xc.654+67T>A (n.654+67T>A)
gnomAD v4
Xg.41137090G>TCA2693506295USP9Xc.654+68G>T (n.654+68G>T)
gnomAD v4
Xg.41137092T>CCA2693506296USP9Xc.654+70T>C (n.654+70T>C)
gnomAD v4
Xg.41137093C>ACA2693506297USP9Xc.654+71C>A (n.654+71C>A)
gnomAD v4
Xg.41137093C=CA2425806668USP9Xc.654+71C= (n.654+71C=)
Xg.41137093C>GCA2693506298USP9Xc.654+71C>G (n.654+71C>G)
gnomAD v4
Xg.41137093C>TCA2425806669USP9Xc.654+71C>T (n.654+71C>T)
dbSNP gnomAD v4
Xg.41137094T>CCA2579587380USP9Xc.654+72T>C (n.654+72T>C)
Xg.41137095G>ACA2579587381USP9Xc.654+73G>A (n.654+73G>A)

Number of alleles fetched