Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222295480A=CA1330545736PAX3c.451+48T= (n.451+48T=)
n.832+48T=
c.448+48T= (n.448+48T=)
c.595+48T= (n.595+48T=)
2g.222295480A>CCA539496857PAX3c.451+48T>G (n.451+48T>G)
n.832+48T>G
c.448+48T>G (n.448+48T>G)
c.595+48T>G (n.595+48T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295480A>TCA2663323830PAX3c.451+48T>A (n.451+48T>A)
n.832+48T>A
c.448+48T>A (n.448+48T>A)
c.595+48T>A (n.595+48T>A)
 gnomAD v4
2g.222295481T>CCA2135735PAX3c.451+47A>G (n.451+47A>G)
n.832+47A>G
c.448+47A>G (n.448+47A>G)
c.595+47A>G (n.595+47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295481T>GCA2663323831PAX3c.451+47A>C (n.451+47A>C)
n.832+47A>C
c.448+47A>C (n.448+47A>C)
c.595+47A>C (n.595+47A>C)
 gnomAD v4
2g.222295481T=CA1330545737PAX3c.451+47A= (n.451+47A=)
n.832+47A=
c.448+47A= (n.448+47A=)
c.595+47A= (n.595+47A=)
2g.222295483G>ACA66340492PAX3c.451+45C>T (n.451+45C>T)
n.832+45C>T
c.448+45C>T (n.448+45C>T)
c.595+45C>T (n.595+45C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295483G=CA1330545738PAX3c.451+45C= (n.451+45C=)
n.832+45C=
c.448+45C= (n.448+45C=)
c.595+45C= (n.595+45C=)
2g.222295484C>ACA2135736PAX3c.451+44G>T (n.451+44G>T)
n.832+44G>T
c.448+44G>T (n.448+44G>T)
c.595+44G>T (n.595+44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295484C=CA1330545739PAX3c.451+44G= (n.451+44G=)
n.832+44G=
c.448+44G= (n.448+44G=)
c.595+44G= (n.595+44G=)
2g.222295484C>GCA2663323832PAX3c.451+44G>C (n.451+44G>C)
n.832+44G>C
c.448+44G>C (n.448+44G>C)
c.595+44G>C (n.595+44G>C)
 gnomAD v4
2g.222295484C>TCA2663323833PAX3c.451+44G>A (n.451+44G>A)
n.832+44G>A
c.448+44G>A (n.448+44G>A)
c.595+44G>A (n.595+44G>A)
 gnomAD v4
2g.222295485G>ACA2135737PAX3c.451+43C>T (n.451+43C>T)
n.832+43C>T
c.448+43C>T (n.448+43C>T)
c.595+43C>T (n.595+43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295485G=CA1330545740PAX3c.451+43C= (n.451+43C=)
n.832+43C=
c.448+43C= (n.448+43C=)
c.595+43C= (n.595+43C=)
2g.222295485G>TCA2663323834PAX3c.451+43C>A (n.451+43C>A)
n.832+43C>A
c.448+43C>A (n.448+43C>A)
c.595+43C>A (n.595+43C>A)
 gnomAD v4
2g.222295486A=CA1330545742PAX3c.451+42T= (n.451+42T=)
n.832+42T=
c.448+42T= (n.448+42T=)
c.595+42T= (n.595+42T=)
2g.222295486A>GCA2663323835PAX3c.451+42T>C (n.451+42T>C)
n.832+42T>C
c.448+42T>C (n.448+42T>C)
c.595+42T>C (n.595+42T>C)
 gnomAD v4
2g.222295486A>TCA1330545741PAX3c.451+42T>A (n.451+42T>A)
n.832+42T>A
c.448+42T>A (n.448+42T>A)
c.595+42T>A (n.595+42T>A)
 dbSNP
2g.222295487C>ACA539496862PAX3c.451+41G>T (n.451+41G>T)
n.832+41G>T
c.448+41G>T (n.448+41G>T)
c.595+41G>T (n.595+41G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222295487C=CA1330545743PAX3c.451+41G= (n.451+41G=)
n.832+41G=
c.448+41G= (n.448+41G=)
c.595+41G= (n.595+41G=)
2g.222295487C>GCA2663323836PAX3c.451+41G>C (n.451+41G>C)
n.832+41G>C
c.448+41G>C (n.448+41G>C)
c.595+41G>C (n.595+41G>C)
 gnomAD v4
2g.222295488T>ACA2754391900PAX3c.451+40A>T (n.451+40A>T)
n.832+40A>T
c.448+40A>T (n.448+40A>T)
c.595+40A>T (n.595+40A>T)
2g.222295488T>CCA2135738PAX3c.451+40A>G (n.451+40A>G)
n.832+40A>G
c.448+40A>G (n.448+40A>G)
c.595+40A>G (n.595+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295488T>GCA765249398PAX3c.451+40A>C (n.451+40A>C)
n.832+40A>C
c.448+40A>C (n.448+40A>C)
c.595+40A>C (n.595+40A>C)
 dbSNP
2g.222295488T=CA1330545744PAX3c.451+40A= (n.451+40A=)
n.832+40A=
c.448+40A= (n.448+40A=)
c.595+40A= (n.595+40A=)
2g.222295489G>CCA2570297047PAX3c.451+39C>G (n.451+39C>G)
n.832+39C>G
c.448+39C>G (n.448+39C>G)
c.595+39C>G (n.595+39C>G)
 gnomAD v4
2g.222295491C=CA1330545745PAX3c.451+37G= (n.451+37G=)
n.832+37G=
c.448+37G= (n.448+37G=)
c.595+37G= (n.595+37G=)
2g.222295491C>TCA539496866PAX3c.451+37G>A (n.451+37G>A)
n.832+37G>A
c.448+37G>A (n.448+37G>A)
c.595+37G>A (n.595+37G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295493G>CCA539496868PAX3c.451+35C>G (n.451+35C>G)
n.832+35C>G
c.448+35C>G (n.448+35C>G)
c.595+35C>G (n.595+35C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295493G=CA1330545746PAX3c.451+35C= (n.451+35C=)
n.832+35C=
c.448+35C= (n.448+35C=)
c.595+35C= (n.595+35C=)
2g.222295494T>CCA2135739PAX3c.451+34A>G (n.451+34A>G)
n.832+34A>G
c.448+34A>G (n.448+34A>G)
c.595+34A>G (n.595+34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295494T=CA1330545747PAX3c.451+34A= (n.451+34A=)
n.832+34A=
c.448+34A= (n.448+34A=)
c.595+34A= (n.595+34A=)
2g.222295495C>ACA2577257574PAX3c.451+33G>T (n.451+33G>T)
n.832+33G>T
c.448+33G>T (n.448+33G>T)
c.595+33G>T (n.595+33G>T)
 gnomAD v4
2g.222295495C=CA1330545748PAX3c.451+33G= (n.451+33G=)
n.832+33G=
c.448+33G= (n.448+33G=)
c.595+33G= (n.595+33G=)
2g.222295495C>GCA2135740PAX3c.451+33G>C (n.451+33G>C)
n.832+33G>C
c.448+33G>C (n.448+33G>C)
c.595+33G>C (n.595+33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295495C>TCA66340493PAX3c.451+33G>A (n.451+33G>A)
n.832+33G>A
c.448+33G>A (n.448+33G>A)
c.595+33G>A (n.595+33G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295496G>ACA1330545750PAX3c.451+32C>T (n.451+32C>T)
n.832+32C>T
c.448+32C>T (n.448+32C>T)
c.595+32C>T (n.595+32C>T)
 dbSNP
2g.222295496G>CCA2135741PAX3c.451+32C>G (n.451+32C>G)
n.832+32C>G
c.448+32C>G (n.448+32C>G)
c.595+32C>G (n.595+32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295496G=CA1330545749PAX3c.451+32C= (n.451+32C=)
n.832+32C=
c.448+32C= (n.448+32C=)
c.595+32C= (n.595+32C=)
2g.222295497C>ACA2754391901PAX3c.451+31G>T (n.451+31G>T)
n.832+31G>T
c.448+31G>T (n.448+31G>T)
c.595+31G>T (n.595+31G>T)
2g.222295498G>CCA2663323837PAX3c.451+30C>G (n.451+30C>G)
n.832+30C>G
c.448+30C>G (n.448+30C>G)
c.595+30C>G (n.595+30C>G)
 gnomAD v4
2g.222295498G=CA1330545751PAX3c.451+30C= (n.451+30C=)
n.832+30C=
c.448+30C= (n.448+30C=)
c.595+30C= (n.595+30C=)
2g.222295498G>TCA1042701982PAX3c.451+30C>A (n.451+30C>A)
n.832+30C>A
c.448+30C>A (n.448+30C>A)
c.595+30C>A (n.595+30C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.222295500C>ACA2135742PAX3c.451+28G>T (n.451+28G>T)
n.832+28G>T
c.448+28G>T (n.448+28G>T)
c.595+28G>T (n.595+28G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295500C=CA1330545752PAX3c.451+28G= (n.451+28G=)
n.832+28G=
c.448+28G= (n.448+28G=)
c.595+28G= (n.595+28G=)
2g.222295502C>ACA2663323838PAX3c.451+26G>T (n.451+26G>T)
n.832+26G>T
c.448+26G>T (n.448+26G>T)
c.595+26G>T (n.595+26G>T)
 gnomAD v4
2g.222295502C=CA1330545754PAX3c.451+26G= (n.451+26G=)
n.832+26G=
c.448+26G= (n.448+26G=)
c.595+26G= (n.595+26G=)
2g.222295502C>GCA2663323839PAX3c.451+26G>C (n.451+26G>C)
n.832+26G>C
c.448+26G>C (n.448+26G>C)
c.595+26G>C (n.595+26G>C)
 gnomAD v4
2g.222295502C>TCA1042701983PAX3c.451+26G>A (n.451+26G>A)
n.832+26G>A
c.448+26G>A (n.448+26G>A)
c.595+26G>A (n.595+26G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.222295502_222295503delinsCGCA1330545753PAX3c.451+25_451+26delinsCG (n.451+25_451+26delinsCG)
n.832+25_832+26delinsCG
c.448+25_448+26delinsCG (n.448+25_448+26delinsCG)
c.595+25_595+26delinsCG (n.595+25_595+26delinsCG)
2g.222295503G>ACA2135744PAX3c.451+25C>T (n.451+25C>T)
n.832+25C>T
c.448+25C>T (n.448+25C>T)
c.595+25C>T (n.595+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295503G>CCA2135743PAX3c.451+25C>G (n.451+25C>G)
n.832+25C>G
c.448+25C>G (n.448+25C>G)
c.595+25C>G (n.595+25C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295503G=CA1330545755PAX3c.451+25C= (n.451+25C=)
n.832+25C=
c.448+25C= (n.448+25C=)
c.595+25C= (n.595+25C=)
2g.222295503G>TCA2577257575PAX3c.451+25C>A (n.451+25C>A)
n.832+25C>A
c.448+25C>A (n.448+25C>A)
c.595+25C>A (n.595+25C>A)
 gnomAD v4
2g.222295506delCA539496874PAX3c.451+25del (n.451+25del)
n.832+25del
c.448+25del (n.448+25del)
c.595+25del (n.595+25del)
 dbSNP gnomAD v2 gnomAD v4
2g.222295504G>TCA2577257576PAX3c.451+24C>A (n.451+24C>A)
n.832+24C>A
c.448+24C>A (n.448+24C>A)
c.595+24C>A (n.595+24C>A)
 gnomAD v4
2g.222295505G>ACA539496875PAX3c.451+23C>T (n.451+23C>T)
n.832+23C>T
c.448+23C>T (n.448+23C>T)
c.595+23C>T (n.595+23C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222295505G=CA1330545756PAX3c.451+23C= (n.451+23C=)
n.832+23C=
c.448+23C= (n.448+23C=)
c.595+23C= (n.595+23C=)
2g.222295506G=CA1330545757PAX3c.451+22C= (n.451+22C=)
n.832+22C=
c.448+22C= (n.448+22C=)
c.595+22C= (n.595+22C=)
2g.222295506G>TCA539496877PAX3c.451+22C>A (n.451+22C>A)
n.832+22C>A
c.448+22C>A (n.448+22C>A)
c.595+22C>A (n.595+22C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.222295507A>TCA2663323840PAX3c.451+21T>A (n.451+21T>A)
n.832+21T>A
c.448+21T>A (n.448+21T>A)
c.595+21T>A (n.595+21T>A)
 gnomAD v4
2g.222295510G>ACA2135745PAX3c.451+18C>T (n.451+18C>T)
n.832+18C>T
c.448+18C>T (n.448+18C>T)
c.595+18C>T (n.595+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295510G=CA1330545758PAX3c.451+18C= (n.451+18C=)
n.832+18C=
c.448+18C= (n.448+18C=)
c.595+18C= (n.595+18C=)
2g.222295512T>GCA1330545760PAX3c.451+16A>C (n.451+16A>C)
n.832+16A>C
c.448+16A>C (n.448+16A>C)
c.595+16A>C (n.595+16A>C)
 dbSNP
2g.222295512T=CA1330545759PAX3c.451+16A= (n.451+16A=)
n.832+16A=
c.448+16A= (n.448+16A=)
c.595+16A= (n.595+16A=)
2g.222295513T>CCA2577257577PAX3c.451+15A>G (n.451+15A>G)
n.832+15A>G
c.448+15A>G (n.448+15A>G)
c.595+15A>G (n.595+15A>G)
2g.222295513T>GCA66340494PAX3c.451+15A>C (n.451+15A>C)
n.832+15A>C
c.448+15A>C (n.448+15A>C)
c.595+15A>C (n.595+15A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295513T=CA1330545761PAX3c.451+15A= (n.451+15A=)
n.832+15A=
c.448+15A= (n.448+15A=)
c.595+15A= (n.595+15A=)
2g.222295514A=CA1330545762PAX3c.451+14T= (n.451+14T=)
n.832+14T=
c.448+14T= (n.448+14T=)
c.595+14T= (n.595+14T=)
2g.222295514A>CCA1330545763PAX3c.451+14T>G (n.451+14T>G)
n.832+14T>G
c.448+14T>G (n.448+14T>G)
c.595+14T>G (n.595+14T>G)
 dbSNP
2g.222295516T>CCA2663323841PAX3c.451+12A>G (n.451+12A>G)
n.832+12A>G
c.448+12A>G (n.448+12A>G)
c.595+12A>G (n.595+12A>G)
 gnomAD v4
2g.222295517G>ACA1042701997PAX3c.451+11C>T (n.451+11C>T)
n.832+11C>T
c.448+11C>T (n.448+11C>T)
c.595+11C>T (n.595+11C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.222295517G=CA1330545764PAX3c.451+11C= (n.451+11C=)
n.832+11C=
c.448+11C= (n.448+11C=)
c.595+11C= (n.595+11C=)
2g.222295517G>TCA2663323842PAX3c.451+11C>A (n.451+11C>A)
n.832+11C>A
c.448+11C>A (n.448+11C>A)
c.595+11C>A (n.595+11C>A)
 gnomAD v4
2g.222295518G>ACA2663323843PAX3c.451+10C>T (n.451+10C>T)
n.832+10C>T
c.448+10C>T (n.448+10C>T)
c.595+10C>T (n.595+10C>T)
 gnomAD v4
2g.222295519G=CA1330545765PAX3c.451+9C= (n.451+9C=)
n.832+9C=
c.448+9C= (n.448+9C=)
c.595+9C= (n.595+9C=)
2g.222295519G>TCA2135746PAX3c.451+9C>A (n.451+9C>A)
n.832+9C>A
c.448+9C>A (n.448+9C>A)
c.595+9C>A (n.595+9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295520C=CA1330545766PAX3c.451+8G= (n.451+8G=)
n.832+8G=
c.448+8G= (n.448+8G=)
c.595+8G= (n.595+8G=)
2g.222295520C>GCA539496881PAX3c.451+8G>C (n.451+8G>C)
n.832+8G>C
c.448+8G>C (n.448+8G>C)
c.595+8G>C (n.595+8G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.222295520C>TCA2135747PAX3c.451+8G>A (n.451+8G>A)
n.832+8G>A
c.448+8G>A (n.448+8G>A)
c.595+8G>A (n.595+8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295521C>TCA2663323844PAX3c.451+7G>A (n.451+7G>A)
n.832+7G>A
c.448+7G>A (n.448+7G>A)
c.595+7G>A (n.595+7G>A)
 gnomAD v4
2g.222295522T>CCA2663323845PAX3c.451+6A>G (n.451+6A>G)
n.832+6A>G
c.448+6A>G (n.448+6A>G)
c.595+6A>G (n.595+6A>G)
 gnomAD v4
2g.222295523A=CA1330545767PAX3c.451+5T= (n.451+5T=)
n.832+5T=
c.448+5T= (n.448+5T=)
c.595+5T= (n.595+5T=)
2g.222295523A>GCA539496883PAX3c.451+5T>C (n.451+5T>C)
n.832+5T>C
c.448+5T>C (n.448+5T>C)
c.595+5T>C (n.595+5T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.222295524G>ACA539496885PAX3c.451+4C>T (n.451+4C>T)
n.832+4C>T
c.448+4C>T (n.448+4C>T)
c.595+4C>T (n.595+4C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222295524G=CA1330545768PAX3c.451+4C= (n.451+4C=)
n.832+4C=
c.448+4C= (n.448+4C=)
c.595+4C= (n.595+4C=)
2g.222295524G>TCA2663323846PAX3c.451+4C>A (n.451+4C>A)
n.832+4C>A
c.448+4C>A (n.448+4C>A)
c.595+4C>A (n.595+4C>A)
 gnomAD v4
2g.222295525T>GCA2586971536PAX3c.451+3A>C (n.451+3A>C)
n.832+3A>C
c.448+3A>C (n.448+3A>C)
c.595+3A>C (n.595+3A>C)
2g.222295526A>CCA351113027PAX3c.451+2T>G (n.451+2T>G)
n.832+2T>G
c.448+2T>G (n.448+2T>G)
c.595+2T>G (n.595+2T>G)
2g.222295526A>GCA351113028PAX3c.451+2T>C (n.451+2T>C)
n.832+2T>C
c.448+2T>C (n.448+2T>C)
c.595+2T>C (n.595+2T>C)
2g.222295526A>TCA351113026PAX3c.451+2T>A (n.451+2T>A)
n.832+2T>A
c.448+2T>A (n.448+2T>A)
c.595+2T>A (n.595+2T>A)
2g.222295527C>ACA351113029PAX3c.451+1G>T (n.451+1G>T)
n.832+1G>T
c.448+1G>T (n.448+1G>T)
c.595+1G>T (n.595+1G>T)
2g.222295527C>GCA351113030PAX3c.451+1G>C (n.451+1G>C)
n.832+1G>C
c.448+1G>C (n.448+1G>C)
c.595+1G>C (n.595+1G>C)
2g.222295527C>TCA351113031PAX3c.451+1G>A (n.451+1G>A)
n.832+1G>A
c.448+1G>A (n.448+1G>A)
c.595+1G>A (n.595+1G>A)
 ClinVar
2g.222295528C>ACA351113032PAX3c.451G>T (p.Val151Leu)
n.832G>T
c.448G>T (p.Val150Leu)
c.595G>T (p.Val199Leu)
2g.222295528C>GCA351113033PAX3c.451G>C (p.Val151Leu)
n.832G>C
c.448G>C (p.Val150Leu)
c.595G>C (p.Val199Leu)
2g.222295528C>TCA351113034PAX3c.451G>A (p.Val151Met)
n.832G>A
c.448G>A (p.Val150Met)
c.595G>A (p.Val199Met)
2g.222295529T>ACA431575792PAX3c.450A>T (p.Ser150=)
n.831A>T
c.447A>T (p.Ser149=)
c.594A>T (p.Ser198=)
2g.222295529T>CCA431575793PAX3c.450A>G (p.Ser150=)
n.831A>G
c.447A>G (p.Ser149=)
c.594A>G (p.Ser198=)
 ClinVar
2g.222295529T>GCA431575794PAX3c.450A>C (p.Ser150=)
n.831A>C
c.447A>C (p.Ser149=)
c.594A>C (p.Ser198=)
2g.222295530G>ACA351113035PAX3c.449C>T (p.Ser150Leu)
n.830C>T
c.446C>T (p.Ser149Leu)
c.593C>T (p.Ser198Leu)
2g.222295530G>CCA351113036PAX3c.449C>G (p.Ser150Ter)
n.830C>G
c.446C>G (p.Ser149Ter)
c.593C>G (p.Ser198Ter)
2g.222295530G>TCA351113037PAX3c.449C>A (p.Ser150Ter)
n.830C>A
c.446C>A (p.Ser149Ter)
c.593C>A (p.Ser198Ter)
2g.222295532_222295547delCA2586971537PAX3c.434_449del (p.Arg145GlnfsTer2)
n.815_830del
c.431_446del (p.Arg144GlnfsTer2)
c.578_593del (p.Arg193GlnfsTer2)
2g.222295531A=CA1330545769PAX3c.448T= (p.Ser150=)
n.829T=
c.445T= (p.Ser149=)
c.592T= (p.Ser198=)
2g.222295531A>CCA351113038PAX3c.448T>G (p.Ser150Ala)
n.829T>G
c.445T>G (p.Ser149Ala)
c.592T>G (p.Ser198Ala)
2g.222295531A>GCA66340495PAX3c.448T>C (p.Ser150Pro)
n.829T>C
c.445T>C (p.Ser149Pro)
c.592T>C (p.Ser198Pro)
 ClinVar dbSNP
2g.222295531A>TCA351113039PAX3c.448T>A (p.Ser150Thr)
n.829T>A
c.445T>A (p.Ser149Thr)
c.592T>A (p.Ser198Thr)
2g.222295532C>ACA431575796PAX3c.447G>T (p.Pro149=)
n.828G>T
c.444G>T (p.Pro148=)
c.591G>T (p.Pro197=)
 dbSNP gnomAD v4
2g.222295532C=CA1330545770PAX3c.447G= (p.Pro149=)
n.828G=
c.444G= (p.Pro148=)
c.591G= (p.Pro197=)
2g.222295532C>GCA431575797PAX3c.447G>C (p.Pro149=)
n.828G>C
c.444G>C (p.Pro148=)
c.591G>C (p.Pro197=)
2g.222295532C>TCA431575795PAX3c.447G>A (p.Pro149=)
n.828G>A
c.444G>A (p.Pro148=)
c.591G>A (p.Pro197=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295532_222295533insTCA66340496PAX3c.446_447insA (p.Ser150ValfsTer12)
n.827_828insA
c.443_444insA (p.Ser149ValfsTer12)
c.590_591insA (p.Ser198ValfsTer12)
 dbSNP
2g.222295533G>ACA351113042PAX3c.446C>T (p.Pro149Leu)
n.827C>T
c.443C>T (p.Pro148Leu)
c.590C>T (p.Pro197Leu)
 dbSNP gnomAD v4
2g.222295533G>CCA351113040PAX3c.446C>G (p.Pro149Arg)
n.827C>G
c.443C>G (p.Pro148Arg)
c.590C>G (p.Pro197Arg)
 gnomAD v4
2g.222295533G=CA1330545771PAX3c.446C= (p.Pro149=)
n.827C=
c.443C= (p.Pro148=)
c.590C= (p.Pro197=)
2g.222295533G>TCA351113041PAX3c.446C>A (p.Pro149Gln)
n.827C>A
c.443C>A (p.Pro148Gln)
c.590C>A (p.Pro197Gln)
 gnomAD v4
2g.222295534delCA2586971538PAX3c.446del (p.Pro149ArgfsTer3)
n.827del
c.443del (p.Pro148ArgfsTer3)
c.590del (p.Pro197ArgfsTer3)
2g.222295534G>ACA351113043PAX3c.445C>T (p.Pro149Ser)
n.826C>T
c.442C>T (p.Pro148Ser)
c.589C>T (p.Pro197Ser)
2g.222295534G>CCA351113044PAX3c.445C>G (p.Pro149Ala)
n.826C>G
c.442C>G (p.Pro148Ala)
c.589C>G (p.Pro197Ala)
2g.222295534G>TCA351113045PAX3c.445C>A (p.Pro149Thr)
n.826C>A
c.442C>A (p.Pro148Thr)
c.589C>A (p.Pro197Thr)
2g.222295535C>ACA2135748PAX3c.444G>T (p.Val148=)
n.825G>T
c.441G>T (p.Val147=)
c.588G>T (p.Val196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295535C=CA1330545772PAX3c.444G= (p.Val148=)
n.825G=
c.441G= (p.Val147=)
c.588G= (p.Val196=)
2g.222295535C>GCA431575798PAX3c.444G>C (p.Val148=)
n.825G>C
c.441G>C (p.Val147=)
c.588G>C (p.Val196=)
2g.222295535C>TCA431575799PAX3c.444G>A (p.Val148=)
n.825G>A
c.441G>A (p.Val147=)
c.588G>A (p.Val196=)
2g.222295536A>CCA351113048PAX3c.443T>G (p.Val148Gly)
n.824T>G
c.440T>G (p.Val147Gly)
c.587T>G (p.Val196Gly)
 gnomAD v4
2g.222295536A>GCA351113047PAX3c.443T>C (p.Val148Ala)
n.824T>C
c.440T>C (p.Val147Ala)
c.587T>C (p.Val196Ala)
2g.222295536A>TCA351113046PAX3c.443T>A (p.Val148Glu)
n.824T>A
c.440T>A (p.Val147Glu)
c.587T>A (p.Val196Glu)
2g.222295537C>ACA351113049PAX3c.442G>T (p.Val148Leu)
n.823G>T
c.439G>T (p.Val147Leu)
c.586G>T (p.Val196Leu)
2g.222295537C>GCA351113050PAX3c.442G>C (p.Val148Leu)
n.823G>C
c.439G>C (p.Val147Leu)
c.586G>C (p.Val196Leu)
2g.222295537C>TCA351113051PAX3c.442G>A (p.Val148Met)
n.823G>A
c.439G>A (p.Val147Met)
c.586G>A (p.Val196Met)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.222295538G>ACA431575800PAX3c.441C>T (p.Thr147=)
n.822C>T
c.438C>T (p.Thr146=)
c.585C>T (p.Thr195=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295538G>CCA431575801PAX3c.441C>G (p.Thr147=)
n.822C>G
c.438C>G (p.Thr146=)
c.585C>G (p.Thr195=)
 gnomAD v4
2g.222295538G>TCA431575802PAX3c.441C>A (p.Thr147=)
n.822C>A
c.438C>A (p.Thr146=)
c.585C>A (p.Thr195=)
2g.222295538_222295546dupCA2577257578PAX3c.433_441dup (p.Thr147_Val148insArgAsnThr)
n.814_822dup
c.430_438dup (p.Thr146_Val147insArgAsnThr)
c.577_585dup (p.Thr195_Val196insArgAsnThr)
 gnomAD v4
2g.222295539G>ACA66340497PAX3c.440C>T (p.Thr147Ile)
n.821C>T
c.437C>T (p.Thr146Ile)
c.584C>T (p.Thr195Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.222295539G>CCA351113052PAX3c.440C>G (p.Thr147Ser)
n.821C>G
c.437C>G (p.Thr146Ser)
c.584C>G (p.Thr195Ser)
2g.222295539G=CA1330545773PAX3c.440C= (p.Thr147=)
n.821C=
c.437C= (p.Thr146=)
c.584C= (p.Thr195=)
2g.222295539G>TCA351113053PAX3c.440C>A (p.Thr147Asn)
n.821C>A
c.437C>A (p.Thr146Asn)
c.584C>A (p.Thr195Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.222295540T>ACA351113054PAX3c.439A>T (p.Thr147Ser)
n.820A>T
c.436A>T (p.Thr146Ser)
c.583A>T (p.Thr195Ser)
2g.222295540T>CCA351113056PAX3c.439A>G (p.Thr147Ala)
n.820A>G
c.436A>G (p.Thr146Ala)
c.583A>G (p.Thr195Ala)
2g.222295540T>GCA351113055PAX3c.439A>C (p.Thr147Pro)
n.820A>C
c.436A>C (p.Thr146Pro)
c.583A>C (p.Thr195Pro)
2g.222295541G>ACA431575803PAX3c.438C>T (p.Asn146=)
n.819C>T
c.435C>T (p.Asn145=)
c.582C>T (p.Asn194=)
 dbSNP
2g.222295541G>CCA351113057PAX3c.438C>G (p.Asn146Lys)
n.819C>G
c.435C>G (p.Asn145Lys)
c.582C>G (p.Asn194Lys)
2g.222295541G=CA1330545774PAX3c.438C= (p.Asn146=)
n.819C=
c.435C= (p.Asn145=)
c.582C= (p.Asn194=)
2g.222295541G>TCA351113058PAX3c.438C>A (p.Asn146Lys)
n.819C>A
c.435C>A (p.Asn145Lys)
c.582C>A (p.Asn194Lys)
2g.222295542T>ACA351113059PAX3c.437A>T (p.Asn146Ile)
n.818A>T
c.434A>T (p.Asn145Ile)
c.581A>T (p.Asn194Ile)
2g.222295542T>CCA351113061PAX3c.437A>G (p.Asn146Ser)
n.818A>G
c.434A>G (p.Asn145Ser)
c.581A>G (p.Asn194Ser)
2g.222295542T>GCA351113060PAX3c.437A>C (p.Asn146Thr)
n.818A>C
c.434A>C (p.Asn145Thr)
c.581A>C (p.Asn194Thr)
2g.222295543T>ACA351113062PAX3c.436A>T (p.Asn146Tyr)
n.817A>T
c.433A>T (p.Asn145Tyr)
c.580A>T (p.Asn194Tyr)
2g.222295543T>CCA351113063PAX3c.436A>G (p.Asn146Asp)
n.817A>G
c.433A>G (p.Asn145Asp)
c.580A>G (p.Asn194Asp)
 dbSNP gnomAD v4
2g.222295543T>GCA351113064PAX3c.436A>C (p.Asn146His)
n.817A>C
c.433A>C (p.Asn145His)
c.580A>C (p.Asn194His)
2g.222295543T=CA1330545775PAX3c.436A= (p.Asn146=)
n.817A=
c.433A= (p.Asn145=)
c.580A= (p.Asn194=)
2g.222295544T>ACA431575804PAX3c.435A>T (p.Arg145=)
n.816A>T
c.432A>T (p.Arg144=)
c.579A>T (p.Arg193=)
2g.222295544T>CCA431575805PAX3c.435A>G (p.Arg145=)
n.816A>G
c.432A>G (p.Arg144=)
c.579A>G (p.Arg193=)
2g.222295544T>GCA431575806PAX3c.435A>C (p.Arg145=)
n.816A>C
c.432A>C (p.Arg144=)
c.579A>C (p.Arg193=)
2g.222295545C>ACA351113065PAX3c.434G>T (p.Arg145Leu)
n.815G>T
c.431G>T (p.Arg144Leu)
c.578G>T (p.Arg193Leu)
 dbSNP
2g.222295545C=CA1330545776PAX3c.434G= (p.Arg145=)
n.815G=
c.431G= (p.Arg144=)
c.578G= (p.Arg193=)
2g.222295545C>GCA351113066PAX3c.434G>C (p.Arg145Pro)
n.815G>C
c.431G>C (p.Arg144Pro)
c.578G>C (p.Arg193Pro)
2g.222295545C>TCA351113067PAX3c.434G>A (p.Arg145Gln)
n.815G>A
c.431G>A (p.Arg144Gln)
c.578G>A (p.Arg193Gln)
2g.222295546G>ACA351113069PAX3c.433C>T (p.Arg145Ter)
n.814C>T
c.430C>T (p.Arg144Ter)
c.577C>T (p.Arg193Ter)
 ClinVar
2g.222295546G>CCA351113068PAX3c.433C>G (p.Arg145Gly)
n.814C>G
c.430C>G (p.Arg144Gly)
c.577C>G (p.Arg193Gly)
 gnomAD v4
2g.222295546G=CA1330545777PAX3c.433C= (p.Arg145=)
n.814C=
c.430C= (p.Arg144=)
c.577C= (p.Arg193=)
2g.222295546G>TCA431575807PAX3c.433C>A (p.Arg145=)
n.814C>A
c.430C>A (p.Arg144=)
c.577C>A (p.Arg193=)
 dbSNP gnomAD v3 gnomAD v4
2g.222295547A=CA1330545778PAX3c.432T= (p.Asp144=)
n.813T=
c.429T= (p.Asp143=)
c.576T= (p.Asp192=)
2g.222295547A>CCA351113070PAX3c.432T>G (p.Asp144Glu)
n.813T>G
c.429T>G (p.Asp143Glu)
c.576T>G (p.Asp192Glu)
2g.222295547A>GCA2135749PAX3c.432T>C (p.Asp144=)
n.813T>C
c.429T>C (p.Asp143=)
c.576T>C (p.Asp192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295547A>TCA351113071PAX3c.432T>A (p.Asp144Glu)
n.813T>A
c.429T>A (p.Asp143Glu)
c.576T>A (p.Asp192Glu)
2g.222295548T>ACA351113072PAX3c.431A>T (p.Asp144Val)
n.812A>T
c.428A>T (p.Asp143Val)
c.575A>T (p.Asp192Val)
2g.222295548T>CCA351113073PAX3c.431A>G (p.Asp144Gly)
n.812A>G
c.428A>G (p.Asp143Gly)
c.575A>G (p.Asp192Gly)
2g.222295548T>GCA351113074PAX3c.431A>C (p.Asp144Ala)
n.812A>C
c.428A>C (p.Asp143Ala)
c.575A>C (p.Asp192Ala)
2g.222295549C>ACA2135750PAX3c.430G>T (p.Asp144Tyr)
n.811G>T
c.427G>T (p.Asp143Tyr)
c.574G>T (p.Asp192Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295549C=CA1330545779PAX3c.430G= (p.Asp144=)
n.811G=
c.427G= (p.Asp143=)
c.574G= (p.Asp192=)
2g.222295549C>GCA351113076PAX3c.430G>C (p.Asp144His)
n.811G>C
c.427G>C (p.Asp143His)
c.574G>C (p.Asp192His)
 COSMIC COSMIC COSMIC COSMIC
2g.222295549C>TCA351113075PAX3c.430G>A (p.Asp144Asn)
n.811G>A
c.427G>A (p.Asp143Asn)
c.574G>A (p.Asp192Asn)
2g.222295550A>CCA351113077PAX3c.429T>G (p.Cys143Trp)
n.810T>G
c.426T>G (p.Cys142Trp)
c.573T>G (p.Cys191Trp)
2g.222295550A>GCA431575808PAX3c.429T>C (p.Cys143=)
n.810T>C
c.426T>C (p.Cys142=)
c.573T>C (p.Cys191=)
 ClinVar dbSNP gnomAD v4
2g.222295550A>TCA351113078PAX3c.429T>A (p.Cys143Ter)
n.810T>A
c.426T>A (p.Cys142Ter)
c.573T>A (p.Cys191Ter)
2g.222295551C>ACA351113079PAX3c.428G>T (p.Cys143Phe)
n.809G>T
c.425G>T (p.Cys142Phe)
c.572G>T (p.Cys191Phe)
2g.222295551C>GCA351113080PAX3c.428G>C (p.Cys143Ser)
n.809G>C
c.425G>C (p.Cys142Ser)
c.572G>C (p.Cys191Ser)
2g.222295551C>TCA351113081PAX3c.428G>A (p.Cys143Tyr)
n.809G>A
c.425G>A (p.Cys142Tyr)
c.572G>A (p.Cys191Tyr)
 gnomAD v4
2g.222295552A>CCA351113082PAX3c.427T>G (p.Cys143Gly)
n.808T>G
c.424T>G (p.Cys142Gly)
c.571T>G (p.Cys191Gly)
2g.222295552A>GCA351113083PAX3c.427T>C (p.Cys143Arg)
n.808T>C
c.424T>C (p.Cys142Arg)
c.571T>C (p.Cys191Arg)
2g.222295552A>TCA351113084PAX3c.427T>A (p.Cys143Ser)
n.808T>A
c.424T>A (p.Cys142Ser)
c.571T>A (p.Cys191Ser)
2g.222295553G>ACA431575809PAX3c.426C>T (p.Val142=)
n.807C>T
c.423C>T (p.Val141=)
c.570C>T (p.Val190=)
2g.222295553G>CCA431575811PAX3c.426C>G (p.Val142=)
n.807C>G
c.423C>G (p.Val141=)
c.570C>G (p.Val190=)
2g.222295553G>TCA431575810PAX3c.426C>A (p.Val142=)
n.807C>A
c.423C>A (p.Val141=)
c.570C>A (p.Val190=)
2g.222295554A=CA1330545780PAX3c.425T= (p.Val142=)
n.806T=
c.422T= (p.Val141=)
c.569T= (p.Val190=)
2g.222295554A>CCA351113085PAX3c.425T>G (p.Val142Gly)
n.806T>G
c.422T>G (p.Val141Gly)
c.569T>G (p.Val190Gly)
 dbSNP
2g.222295554A>GCA351113086PAX3c.425T>C (p.Val142Ala)
n.806T>C
c.422T>C (p.Val141Ala)
c.569T>C (p.Val190Ala)
2g.222295554A>TCA351113087PAX3c.425T>A (p.Val142Asp)
n.806T>A
c.422T>A (p.Val141Asp)
c.569T>A (p.Val190Asp)
2g.222295555C>ACA351113088PAX3c.424G>T (p.Val142Phe)
n.805G>T
c.421G>T (p.Val141Phe)
c.568G>T (p.Val190Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.222295555C=CA1330545781PAX3c.424G= (p.Val142=)
n.805G=
c.421G= (p.Val141=)
c.568G= (p.Val190=)
2g.222295555C>GCA351113090PAX3c.424G>C (p.Val142Leu)
n.805G>C
c.421G>C (p.Val141Leu)
c.568G>C (p.Val190Leu)
2g.222295555C>TCA351113089PAX3c.424G>A (p.Val142Ile)
n.805G>A
c.421G>A (p.Val141Ile)
c.568G>A (p.Val190Ile)
 gnomAD v4
2g.222295555_222295559delinsGTAACA2586971539PAX3c.420_424delinsTTAC (p.Ala141TyrfsTer11)
n.801_805delinsTTAC
c.417_421delinsTTAC (p.Ala140TyrfsTer11)
c.564_568delinsTTAC (p.Ala189TyrfsTer11)
2g.222295556C>ACA431575812PAX3c.423G>T (p.Ala141=)
n.804G>T
c.420G>T (p.Ala140=)
c.567G>T (p.Ala189=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295556C=CA1330545782PAX3c.423G= (p.Ala141=)
n.804G=
c.420G= (p.Ala140=)
c.567G= (p.Ala189=)
2g.222295556C>GCA431575813PAX3c.423G>C (p.Ala141=)
n.804G>C
c.420G>C (p.Ala140=)
c.567G>C (p.Ala189=)
 dbSNP
2g.222295556C>TCA431575814PAX3c.423G>A (p.Ala141=)
n.804G>A
c.420G>A (p.Ala140=)
c.567G>A (p.Ala189=)
 dbSNP gnomAD v2 gnomAD v4
2g.222295557G>ACA351113091PAX3c.422C>T (p.Ala141Val)
n.803C>T
c.419C>T (p.Ala140Val)
c.566C>T (p.Ala189Val)
2g.222295557G>CCA351113092PAX3c.422C>G (p.Ala141Gly)
n.803C>G
c.419C>G (p.Ala140Gly)
c.566C>G (p.Ala189Gly)
2g.222295557G>TCA351113093PAX3c.422C>A (p.Ala141Glu)
n.803C>A
c.419C>A (p.Ala140Glu)
c.566C>A (p.Ala189Glu)
2g.222295558C>ACA351113094PAX3c.421G>T (p.Ala141Ser)
n.802G>T
c.418G>T (p.Ala140Ser)
c.565G>T (p.Ala189Ser)
2g.222295558C=CA1330545783PAX3c.421G= (p.Ala141=)
n.802G=
c.418G= (p.Ala140=)
c.565G= (p.Ala189=)
2g.222295558C>GCA351113095PAX3c.421G>C (p.Ala141Pro)
n.802G>C
c.418G>C (p.Ala140Pro)
c.565G>C (p.Ala189Pro)
2g.222295558C>TCA351113096PAX3c.421G>A (p.Ala141Thr)
n.802G>A
c.418G>A (p.Ala140Thr)
c.565G>A (p.Ala189Thr)
 dbSNP gnomAD v4
2g.222295559G>ACA431575815PAX3c.420C>T (p.Asp140=)
n.801C>T
c.417C>T (p.Asp139=)
c.564C>T (p.Asp188=)
 gnomAD v4
2g.222295559G>CCA351113097PAX3c.420C>G (p.Asp140Glu)
n.801C>G
c.417C>G (p.Asp139Glu)
c.564C>G (p.Asp188Glu)
2g.222295559G=CA1330545784PAX3c.420C= (p.Asp140=)
n.801C=
c.417C= (p.Asp139=)
c.564C= (p.Asp188=)
2g.222295559G>TCA351113098PAX3c.420C>A (p.Asp140Glu)
n.801C>A
c.417C>A (p.Asp139Glu)
c.564C>A (p.Asp188Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.222295560delCA645523631PAX3c.419del (p.Asp140AlafsTer12)
n.800del
c.416del (p.Asp139AlafsTer12)
c.563del (p.Asp188AlafsTer12)
 COSMIC COSMIC COSMIC COSMIC
2g.222295560T>ACA351113099PAX3c.419A>T (p.Asp140Val)
n.800A>T
c.416A>T (p.Asp139Val)
c.563A>T (p.Asp188Val)
2g.222295560T>CCA351113100PAX3c.419A>G (p.Asp140Gly)
n.800A>G
c.416A>G (p.Asp139Gly)
c.563A>G (p.Asp188Gly)
2g.222295560T>GCA351113101PAX3c.419A>C (p.Asp140Ala)
n.800A>C
c.416A>C (p.Asp139Ala)
c.563A>C (p.Asp188Ala)
2g.222295561C>ACA351113104PAX3c.418G>T (p.Asp140Tyr)
n.799G>T
c.415G>T (p.Asp139Tyr)
c.562G>T (p.Asp188Tyr)
2g.222295561C>GCA351113102PAX3c.418G>C (p.Asp140His)
n.799G>C
c.415G>C (p.Asp139His)
c.562G>C (p.Asp188His)
2g.222295561C>TCA351113103PAX3c.418G>A (p.Asp140Asn)
n.799G>A
c.415G>A (p.Asp139Asn)
c.562G>A (p.Asp188Asn)
2g.222295562C>ACA351113105PAX3c.417G>T (p.Lys139Asn)
n.798G>T
c.414G>T (p.Lys138Asn)
c.561G>T (p.Lys187Asn)
2g.222295562C=CA1330545785PAX3c.417G= (p.Lys139=)
n.798G=
c.414G= (p.Lys138=)
c.561G= (p.Lys187=)
2g.222295562C>GCA351113106PAX3c.417G>C (p.Lys139Asn)
n.798G>C
c.414G>C (p.Lys138Asn)
c.561G>C (p.Lys187Asn)
2g.222295562C>TCA431575816PAX3c.417G>A (p.Lys139=)
n.798G>A
c.414G>A (p.Lys138=)
c.561G>A (p.Lys187=)
 dbSNP
2g.222295563T>ACA351113107PAX3c.416A>T (p.Lys139Met)
n.797A>T
c.413A>T (p.Lys138Met)
c.560A>T (p.Lys187Met)
2g.222295563T>CCA351113108PAX3c.416A>G (p.Lys139Arg)
n.797A>G
c.413A>G (p.Lys138Arg)
c.560A>G (p.Lys187Arg)
2g.222295563T>GCA351113109PAX3c.416A>C (p.Lys139Thr)
n.797A>C
c.413A>C (p.Lys138Thr)
c.560A>C (p.Lys187Thr)
2g.222295564T>ACA10581222PAX3c.415A>T (p.Lys139Ter)
n.796A>T
c.412A>T (p.Lys138Ter)
c.559A>T (p.Lys187Ter)
 ClinVar dbSNP
2g.222295564T>CCA351113110PAX3c.415A>G (p.Lys139Glu)
n.796A>G
c.412A>G (p.Lys138Glu)
c.559A>G (p.Lys187Glu)
2g.222295564T>GCA351113111PAX3c.415A>C (p.Lys139Gln)
n.796A>C
c.412A>C (p.Lys138Gln)
c.559A>C (p.Lys187Gln)
2g.222295564T=CA1330545786PAX3c.415A= (p.Lys139=)
n.796A=
c.412A= (p.Lys138=)
c.559A= (p.Lys187=)
2g.222295565G>ACA431575818PAX3c.414C>T (p.Leu138=)
n.795C>T
c.411C>T (p.Leu137=)
c.558C>T (p.Leu186=)
 gnomAD v4
2g.222295565G>CCA431575820PAX3c.414C>G (p.Leu138=)
n.795C>G
c.411C>G (p.Leu137=)
c.558C>G (p.Leu186=)
2g.222295565G>TCA431575819PAX3c.414C>A (p.Leu138=)
n.795C>A
c.411C>A (p.Leu137=)
c.558C>A (p.Leu186=)
2g.222295566A>CCA351113112PAX3c.413T>G (p.Leu138Arg)
n.794T>G
c.410T>G (p.Leu137Arg)
c.557T>G (p.Leu186Arg)
2g.222295566A>GCA351113113PAX3c.413T>C (p.Leu138Pro)
n.794T>C
c.410T>C (p.Leu137Pro)
c.557T>C (p.Leu186Pro)
2g.222295566A>TCA351113114PAX3c.413T>A (p.Leu138His)
n.794T>A
c.410T>A (p.Leu137His)
c.557T>A (p.Leu186His)
2g.222295567G>ACA351113116PAX3c.412C>T (p.Leu138Phe)
n.793C>T
c.409C>T (p.Leu137Phe)
c.556C>T (p.Leu186Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.222295567G>CCA351113117PAX3c.412C>G (p.Leu138Val)
n.793C>G
c.409C>G (p.Leu137Val)
c.556C>G (p.Leu186Val)
 gnomAD v4
2g.222295567G=CA1330545787PAX3c.412C= (p.Leu138=)
n.793C=
c.409C= (p.Leu137=)
c.556C= (p.Leu186=)
2g.222295567G>TCA351113115PAX3c.412C>A (p.Leu138Ile)
n.793C>A
c.409C>A (p.Leu137Ile)
c.556C>A (p.Leu186Ile)
2g.222295568T>ACA351113118PAX3c.411A>T (p.Leu137Phe)
n.792A>T
c.408A>T (p.Leu136Phe)
c.555A>T (p.Leu185Phe)
2g.222295568T>CCA431575821PAX3c.411A>G (p.Leu137=)
n.792A>G
c.408A>G (p.Leu136=)
c.555A>G (p.Leu185=)
2g.222295568T>GCA351113119PAX3c.411A>C (p.Leu137Phe)
n.792A>C
c.408A>C (p.Leu136Phe)
c.555A>C (p.Leu185Phe)
2g.222295569A>CCA351113120PAX3c.410T>G (p.Leu137Ter)
n.791T>G
c.407T>G (p.Leu136Ter)
c.554T>G (p.Leu185Ter)
2g.222295569A>GCA351113121PAX3c.410T>C (p.Leu137Ser)
n.791T>C
c.407T>C (p.Leu136Ser)
c.554T>C (p.Leu185Ser)
2g.222295569A>TCA351113122PAX3c.410T>A (p.Leu137Ter)
n.791T>A
c.407T>A (p.Leu136Ter)
c.554T>A (p.Leu185Ter)
2g.222295570A>CCA351113123PAX3c.409T>G (p.Leu137Val)
n.790T>G
c.406T>G (p.Leu136Val)
c.553T>G (p.Leu185Val)
2g.222295570A>GCA431575822PAX3c.409T>C (p.Leu137=)
n.790T>C
c.406T>C (p.Leu136=)
c.553T>C (p.Leu185=)
2g.222295570A>TCA351113124PAX3c.409T>A (p.Leu137Ile)
n.790T>A
c.406T>A (p.Leu136Ile)
c.553T>A (p.Leu185Ile)
2g.222295571T>ACA351113125PAX3c.408A>T (p.Lys136Asn)
n.789A>T
c.405A>T (p.Lys135Asn)
c.552A>T (p.Lys184Asn)
2g.222295571T>CCA431575823PAX3c.408A>G (p.Lys136=)
n.789A>G
c.405A>G (p.Lys135=)
c.552A>G (p.Lys184=)
2g.222295571T>GCA351113126PAX3c.408A>C (p.Lys136Asn)
n.789A>C
c.405A>C (p.Lys135Asn)
c.552A>C (p.Lys184Asn)
2g.222295572_222295573delCA2663323847PAX3c.407_408del (p.Lys136IlefsTer8)
n.788_789del
c.404_405del (p.Lys135IlefsTer8)
c.551_552del (p.Lys184IlefsTer8)
 gnomAD v4
2g.222295572T>ACA351113127PAX3c.407A>T (p.Lys136Ile)
n.788A>T
c.404A>T (p.Lys135Ile)
c.551A>T (p.Lys184Ile)
2g.222295572T>CCA351113128PAX3c.407A>G (p.Lys136Arg)
n.788A>G
c.404A>G (p.Lys135Arg)
c.551A>G (p.Lys184Arg)
2g.222295572T>GCA351113129PAX3c.407A>C (p.Lys136Thr)
n.788A>C
c.404A>C (p.Lys135Thr)
c.551A>C (p.Lys184Thr)
2g.222295573T>ACA351113130PAX3c.406A>T (p.Lys136Ter)
n.787A>T
c.403A>T (p.Lys135Ter)
c.550A>T (p.Lys184Ter)
2g.222295573T>CCA351113131PAX3c.406A>G (p.Lys136Glu)
n.787A>G
c.403A>G (p.Lys135Glu)
c.550A>G (p.Lys184Glu)
2g.222295573T>GCA351113132PAX3c.406A>C (p.Lys136Gln)
n.787A>C
c.403A>C (p.Lys135Gln)
c.550A>C (p.Lys184Gln)
2g.222295574G>ACA2135751PAX3c.405C>T (p.Asp135=)
n.786C>T
c.402C>T (p.Asp134=)
c.549C>T (p.Asp183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295574G>CCA351113134PAX3c.405C>G (p.Asp135Glu)
n.786C>G
c.402C>G (p.Asp134Glu)
c.549C>G (p.Asp183Glu)
2g.222295574G=CA1330545788PAX3c.405C= (p.Asp135=)
n.786C=
c.402C= (p.Asp134=)
c.549C= (p.Asp183=)
2g.222295574G>TCA351113133PAX3c.405C>A (p.Asp135Glu)
n.786C>A
c.402C>A (p.Asp134Glu)
c.549C>A (p.Asp183Glu)
2g.222295575T>ACA351113135PAX3c.404A>T (p.Asp135Val)
n.785A>T
c.401A>T (p.Asp134Val)
c.548A>T (p.Asp183Val)
2g.222295575T>CCA351113136PAX3c.404A>G (p.Asp135Gly)
n.785A>G
c.401A>G (p.Asp134Gly)
c.548A>G (p.Asp183Gly)
 dbSNP gnomAD v4
2g.222295575T>GCA351113137PAX3c.404A>C (p.Asp135Ala)
n.785A>C
c.401A>C (p.Asp134Ala)
c.548A>C (p.Asp183Ala)
2g.222295575T=CA1330545789PAX3c.404A= (p.Asp135=)
n.785A=
c.401A= (p.Asp134=)
c.548A= (p.Asp183=)
2g.222295576C>ACA351113138PAX3c.403G>T (p.Asp135Tyr)
n.784G>T
c.400G>T (p.Asp134Tyr)
c.547G>T (p.Asp183Tyr)
2g.222295576C>GCA351113139PAX3c.403G>C (p.Asp135His)
n.784G>C
c.400G>C (p.Asp134His)
c.547G>C (p.Asp183His)
2g.222295576C>TCA351113140PAX3c.403G>A (p.Asp135Asn)
n.784G>A
c.400G>A (p.Asp134Asn)
c.547G>A (p.Asp183Asn)
2g.222295577T>ACA431575826PAX3c.402A>T (p.Arg134=)
n.783A>T
c.399A>T (p.Arg133=)
c.546A>T (p.Arg182=)
2g.222295577T>CCA431575825PAX3c.402A>G (p.Arg134=)
n.783A>G
c.399A>G (p.Arg133=)
c.546A>G (p.Arg182=)
2g.222295577T>GCA431575824PAX3c.402A>C (p.Arg134=)
n.783A>C
c.399A>C (p.Arg133=)
c.546A>C (p.Arg182=)
2g.222295578C>ACA351113141PAX3c.401G>T (p.Arg134Leu)
n.782G>T
c.398G>T (p.Arg133Leu)
c.545G>T (p.Arg182Leu)
2g.222295578C>GCA351113142PAX3c.401G>C (p.Arg134Pro)
n.782G>C
c.398G>C (p.Arg133Pro)
c.545G>C (p.Arg182Pro)
2g.222295578C>TCA351113143PAX3c.401G>A (p.Arg134Gln)
n.782G>A
c.398G>A (p.Arg133Gln)
c.545G>A (p.Arg182Gln)
2g.222295579G>ACA351113144PAX3c.400C>T (p.Arg134Ter)
n.781C>T
c.397C>T (p.Arg133Ter)
c.544C>T (p.Arg182Ter)
2g.222295579G>CCA351113145PAX3c.400C>G (p.Arg134Gly)
n.781C>G
c.397C>G (p.Arg133Gly)
c.544C>G (p.Arg182Gly)
2g.222295579G=CA1330545790PAX3c.400C= (p.Arg134=)
n.781C=
c.397C= (p.Arg133=)
c.544C= (p.Arg182=)
2g.222295579G>TCA431575827PAX3c.400C>A (p.Arg134=)
n.781C>A
c.397C>A (p.Arg133=)
c.544C>A (p.Arg182=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295580G>ACA431575828PAX3c.399C>T (p.Ile133=)
n.780C>T
c.396C>T (p.Ile132=)
c.543C>T (p.Ile181=)
 gnomAD v4
2g.222295580G>CCA351113146PAX3c.399C>G (p.Ile133Met)
n.780C>G
c.396C>G (p.Ile132Met)
c.543C>G (p.Ile181Met)
2g.222295580G>TCA431575829PAX3c.399C>A (p.Ile133=)
n.780C>A
c.396C>A (p.Ile132=)
c.543C>A (p.Ile181=)
 gnomAD v4
2g.222295580_222295593delinsGATTTCCCAGCTGACA1330545791PAX3c.386_399delinsTCAGCTGGGAAATC (p.Phe129=)
n.767_780delinsTCAGCTGGGAAATC
c.383_396delinsTCAGCTGGGAAATC (p.Phe128=)
c.530_543delinsTCAGCTGGGAAATC (p.Phe177=)

Number of alleles fetched