Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222295475G>A | CA1330545730 | PAX3 | c.451+53C>T (n.451+53C>T) n.832+53C>T c.448+53C>T (n.448+53C>T) c.595+53C>T (n.595+53C>T) | dbSNP |
2 | g.222295475G= | CA1330545729 | PAX3 | c.451+53C= (n.451+53C=) n.832+53C= c.448+53C= (n.448+53C=) c.595+53C= (n.595+53C=) | |
2 | g.222295475G>T | CA2663323827 | PAX3 | c.451+53C>A (n.451+53C>A) n.832+53C>A c.448+53C>A (n.448+53C>A) c.595+53C>A (n.595+53C>A) | gnomAD v4 |
2 | g.222295476G>A | CA1330545732 | PAX3 | c.451+52C>T (n.451+52C>T) n.832+52C>T c.448+52C>T (n.448+52C>T) c.595+52C>T (n.595+52C>T) | dbSNP |
2 | g.222295476G>C | CA2577257572 | PAX3 | c.451+52C>G (n.451+52C>G) n.832+52C>G c.448+52C>G (n.448+52C>G) c.595+52C>G (n.595+52C>G) | |
2 | g.222295476G= | CA1330545731 | PAX3 | c.451+52C= (n.451+52C=) n.832+52C= c.448+52C= (n.448+52C=) c.595+52C= (n.595+52C=) | |
2 | g.222295476G>T | CA2663323828 | PAX3 | c.451+52C>A (n.451+52C>A) n.832+52C>A c.448+52C>A (n.448+52C>A) c.595+52C>A (n.595+52C>A) | gnomAD v4 |
2 | g.222295477G>A | CA66340491 | PAX3 | c.451+51C>T (n.451+51C>T) n.832+51C>T c.448+51C>T (n.448+51C>T) c.595+51C>T (n.595+51C>T) | dbSNP gnomAD v4 |
2 | g.222295477G= | CA1330545733 | PAX3 | c.451+51C= (n.451+51C=) n.832+51C= c.448+51C= (n.448+51C=) c.595+51C= (n.595+51C=) | |
2 | g.222295477G>T | CA2577257573 | PAX3 | c.451+51C>A (n.451+51C>A) n.832+51C>A c.448+51C>A (n.448+51C>A) c.595+51C>A (n.595+51C>A) | gnomAD v4 |
2 | g.222295478T>G | CA1330545735 | PAX3 | c.451+50A>C (n.451+50A>C) n.832+50A>C c.448+50A>C (n.448+50A>C) c.595+50A>C (n.595+50A>C) | dbSNP |
2 | g.222295478T= | CA1330545734 | PAX3 | c.451+50A= (n.451+50A=) n.832+50A= c.448+50A= (n.448+50A=) c.595+50A= (n.595+50A=) | |
2 | g.222295479A>T | CA2663323829 | PAX3 | c.451+49T>A (n.451+49T>A) n.832+49T>A c.448+49T>A (n.448+49T>A) c.595+49T>A (n.595+49T>A) | gnomAD v4 |
2 | g.222295480A= | CA1330545736 | PAX3 | c.451+48T= (n.451+48T=) n.832+48T= c.448+48T= (n.448+48T=) c.595+48T= (n.595+48T=) | |
2 | g.222295480A>C | CA539496857 | PAX3 | c.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 |
2 | g.222295480A>T | CA2663323830 | PAX3 | c.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 |
2 | g.222295481T>C | CA2135735 | PAX3 | c.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 |
2 | g.222295481T>G | CA2663323831 | PAX3 | c.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 |
2 | g.222295481T= | CA1330545737 | PAX3 | c.451+47A= (n.451+47A=) n.832+47A= c.448+47A= (n.448+47A=) c.595+47A= (n.595+47A=) | |
2 | g.222295483G>A | CA66340492 | PAX3 | c.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 |
2 | g.222295483G= | CA1330545738 | PAX3 | c.451+45C= (n.451+45C=) n.832+45C= c.448+45C= (n.448+45C=) c.595+45C= (n.595+45C=) | |
2 | g.222295484C>A | CA2135736 | PAX3 | c.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 |
2 | g.222295484C= | CA1330545739 | PAX3 | c.451+44G= (n.451+44G=) n.832+44G= c.448+44G= (n.448+44G=) c.595+44G= (n.595+44G=) | |
2 | g.222295484C>G | CA2663323832 | PAX3 | c.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 |
2 | g.222295484C>T | CA2663323833 | PAX3 | c.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 |
2 | g.222295485G>A | CA2135737 | PAX3 | c.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 |
2 | g.222295485G= | CA1330545740 | PAX3 | c.451+43C= (n.451+43C=) n.832+43C= c.448+43C= (n.448+43C=) c.595+43C= (n.595+43C=) | |
2 | g.222295485G>T | CA2663323834 | PAX3 | c.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 |
2 | g.222295486A= | CA1330545742 | PAX3 | c.451+42T= (n.451+42T=) n.832+42T= c.448+42T= (n.448+42T=) c.595+42T= (n.595+42T=) | |
2 | g.222295486A>G | CA2663323835 | PAX3 | c.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 |
2 | g.222295486A>T | CA1330545741 | PAX3 | c.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 |
2 | g.222295487C>A | CA539496862 | PAX3 | c.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 |
2 | g.222295487C= | CA1330545743 | PAX3 | c.451+41G= (n.451+41G=) n.832+41G= c.448+41G= (n.448+41G=) c.595+41G= (n.595+41G=) | |
2 | g.222295487C>G | CA2663323836 | PAX3 | c.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 |
2 | g.222295488T>A | CA2754391900 | PAX3 | c.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) | |
2 | g.222295488T>C | CA2135738 | PAX3 | c.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 |
2 | g.222295488T>G | CA765249398 | PAX3 | c.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 |
2 | g.222295488T= | CA1330545744 | PAX3 | c.451+40A= (n.451+40A=) n.832+40A= c.448+40A= (n.448+40A=) c.595+40A= (n.595+40A=) | |
2 | g.222295489G>C | CA2570297047 | PAX3 | c.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 |
2 | g.222295491C= | CA1330545745 | PAX3 | c.451+37G= (n.451+37G=) n.832+37G= c.448+37G= (n.448+37G=) c.595+37G= (n.595+37G=) | |
2 | g.222295491C>T | CA539496866 | PAX3 | c.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 |
2 | g.222295493G>C | CA539496868 | PAX3 | c.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 |
2 | g.222295493G= | CA1330545746 | PAX3 | c.451+35C= (n.451+35C=) n.832+35C= c.448+35C= (n.448+35C=) c.595+35C= (n.595+35C=) | |
2 | g.222295494T>C | CA2135739 | PAX3 | c.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 |
2 | g.222295494T= | CA1330545747 | PAX3 | c.451+34A= (n.451+34A=) n.832+34A= c.448+34A= (n.448+34A=) c.595+34A= (n.595+34A=) | |
2 | g.222295495C>A | CA2577257574 | PAX3 | c.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 |
2 | g.222295495C= | CA1330545748 | PAX3 | c.451+33G= (n.451+33G=) n.832+33G= c.448+33G= (n.448+33G=) c.595+33G= (n.595+33G=) | |
2 | g.222295495C>G | CA2135740 | PAX3 | c.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 |
2 | g.222295495C>T | CA66340493 | PAX3 | c.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 |
2 | g.222295496G>A | CA1330545750 | PAX3 | c.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 |
2 | g.222295496G>C | CA2135741 | PAX3 | c.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 |
2 | g.222295496G= | CA1330545749 | PAX3 | c.451+32C= (n.451+32C=) n.832+32C= c.448+32C= (n.448+32C=) c.595+32C= (n.595+32C=) | |
2 | g.222295497C>A | CA2754391901 | PAX3 | c.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) | |
2 | g.222295497C>T | CA2838903442 | PAX3 | c.451+31G>A (n.451+31G>A) n.832+31G>A c.448+31G>A (n.448+31G>A) c.595+31G>A (n.595+31G>A) | |
2 | g.222295498G>C | CA2663323837 | PAX3 | c.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 |
2 | g.222295498G= | CA1330545751 | PAX3 | c.451+30C= (n.451+30C=) n.832+30C= c.448+30C= (n.448+30C=) c.595+30C= (n.595+30C=) | |
2 | g.222295498G>T | CA1042701982 | PAX3 | c.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 |
2 | g.222295500C>A | CA2135742 | PAX3 | c.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 |
2 | g.222295500C= | CA1330545752 | PAX3 | c.451+28G= (n.451+28G=) n.832+28G= c.448+28G= (n.448+28G=) c.595+28G= (n.595+28G=) | |
2 | g.222295502C>A | CA2663323838 | PAX3 | c.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 |
2 | g.222295502C= | CA1330545754 | PAX3 | c.451+26G= (n.451+26G=) n.832+26G= c.448+26G= (n.448+26G=) c.595+26G= (n.595+26G=) | |
2 | g.222295502C>G | CA2663323839 | PAX3 | c.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 |
2 | g.222295502C>T | CA1042701983 | PAX3 | c.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 |
2 | g.222295502_222295503delinsCG | CA1330545753 | PAX3 | c.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) | |
2 | g.222295503G>A | CA2135744 | PAX3 | c.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 |
2 | g.222295503G>C | CA2135743 | PAX3 | c.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 |
2 | g.222295503G= | CA1330545755 | PAX3 | c.451+25C= (n.451+25C=) n.832+25C= c.448+25C= (n.448+25C=) c.595+25C= (n.595+25C=) | |
2 | g.222295503G>T | CA2577257575 | PAX3 | c.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 |
2 | g.222295506del | CA539496874 | PAX3 | c.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 |
2 | g.222295504G>T | CA2577257576 | PAX3 | c.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 |
2 | g.222295505G>A | CA539496875 | PAX3 | c.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 |
2 | g.222295505G= | CA1330545756 | PAX3 | c.451+23C= (n.451+23C=) n.832+23C= c.448+23C= (n.448+23C=) c.595+23C= (n.595+23C=) | |
2 | g.222295506G= | CA1330545757 | PAX3 | c.451+22C= (n.451+22C=) n.832+22C= c.448+22C= (n.448+22C=) c.595+22C= (n.595+22C=) | |
2 | g.222295506G>T | CA539496877 | PAX3 | c.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 |
2 | g.222295507A>T | CA2663323840 | PAX3 | c.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 |
2 | g.222295510G>A | CA2135745 | PAX3 | c.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 |
2 | g.222295510G= | CA1330545758 | PAX3 | c.451+18C= (n.451+18C=) n.832+18C= c.448+18C= (n.448+18C=) c.595+18C= (n.595+18C=) | |
2 | g.222295512T>G | CA1330545760 | PAX3 | c.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 |
2 | g.222295512T= | CA1330545759 | PAX3 | c.451+16A= (n.451+16A=) n.832+16A= c.448+16A= (n.448+16A=) c.595+16A= (n.595+16A=) | |
2 | g.222295513T>C | CA2577257577 | PAX3 | c.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) | |
2 | g.222295513T>G | CA66340494 | PAX3 | c.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 |
2 | g.222295513T= | CA1330545761 | PAX3 | c.451+15A= (n.451+15A=) n.832+15A= c.448+15A= (n.448+15A=) c.595+15A= (n.595+15A=) | |
2 | g.222295514A= | CA1330545762 | PAX3 | c.451+14T= (n.451+14T=) n.832+14T= c.448+14T= (n.448+14T=) c.595+14T= (n.595+14T=) | |
2 | g.222295514A>C | CA1330545763 | PAX3 | c.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 |
2 | g.222295516T>C | CA2663323841 | PAX3 | c.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 |
2 | g.222295517G>A | CA1042701997 | PAX3 | c.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 |
2 | g.222295517G= | CA1330545764 | PAX3 | c.451+11C= (n.451+11C=) n.832+11C= c.448+11C= (n.448+11C=) c.595+11C= (n.595+11C=) | |
2 | g.222295517G>T | CA2663323842 | PAX3 | c.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 |
2 | g.222295518G>A | CA2663323843 | PAX3 | c.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 |
2 | g.222295519G= | CA1330545765 | PAX3 | c.451+9C= (n.451+9C=) n.832+9C= c.448+9C= (n.448+9C=) c.595+9C= (n.595+9C=) | |
2 | g.222295519G>T | CA2135746 | PAX3 | c.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 |
2 | g.222295520C= | CA1330545766 | PAX3 | c.451+8G= (n.451+8G=) n.832+8G= c.448+8G= (n.448+8G=) c.595+8G= (n.595+8G=) | |
2 | g.222295520C>G | CA539496881 | PAX3 | c.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 |
2 | g.222295520C>T | CA2135747 | PAX3 | c.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 |
2 | g.222295521C>T | CA2663323844 | PAX3 | c.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 |
2 | g.222295522T>C | CA2663323845 | PAX3 | c.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 |
2 | g.222295523A= | CA1330545767 | PAX3 | c.451+5T= (n.451+5T=) n.832+5T= c.448+5T= (n.448+5T=) c.595+5T= (n.595+5T=) | |
2 | g.222295523A>G | CA539496883 | PAX3 | c.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 |
2 | g.222295524G>A | CA539496885 | PAX3 | c.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 |
2 | g.222295524G= | CA1330545768 | PAX3 | c.451+4C= (n.451+4C=) n.832+4C= c.448+4C= (n.448+4C=) c.595+4C= (n.595+4C=) | |
2 | g.222295524G>T | CA2663323846 | PAX3 | c.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 |
2 | g.222295525T>G | CA2586971536 | PAX3 | c.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) | |
2 | g.222295526A>C | CA351113027 | PAX3 | c.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) | |
2 | g.222295526A>G | CA351113028 | PAX3 | c.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) | |
2 | g.222295526A>T | CA351113026 | PAX3 | c.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) | |
2 | g.222295527C>A | CA351113029 | PAX3 | c.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) | |
2 | g.222295527C>G | CA351113030 | PAX3 | c.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) | |
2 | g.222295527C>T | CA351113031 | PAX3 | c.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 |
2 | g.222295528C>A | CA351113032 | PAX3 | c.451G>T (p.Val151Leu) n.832G>T c.448G>T (p.Val150Leu) c.595G>T (p.Val199Leu) | |
2 | g.222295528C>G | CA351113033 | PAX3 | c.451G>C (p.Val151Leu) n.832G>C c.448G>C (p.Val150Leu) c.595G>C (p.Val199Leu) | |
2 | g.222295528C>T | CA351113034 | PAX3 | c.451G>A (p.Val151Met) n.832G>A c.448G>A (p.Val150Met) c.595G>A (p.Val199Met) | |
2 | g.222295529T>A | CA431575792 | PAX3 | c.450A>T (p.Ser150=) n.831A>T c.447A>T (p.Ser149=) c.594A>T (p.Ser198=) | |
2 | g.222295529T>C | CA431575793 | PAX3 | c.450A>G (p.Ser150=) n.831A>G c.447A>G (p.Ser149=) c.594A>G (p.Ser198=) | ClinVar |
2 | g.222295529T>G | CA431575794 | PAX3 | c.450A>C (p.Ser150=) n.831A>C c.447A>C (p.Ser149=) c.594A>C (p.Ser198=) | |
2 | g.222295530G>A | CA351113035 | PAX3 | c.449C>T (p.Ser150Leu) n.830C>T c.446C>T (p.Ser149Leu) c.593C>T (p.Ser198Leu) | |
2 | g.222295530G>C | CA351113036 | PAX3 | c.449C>G (p.Ser150Ter) n.830C>G c.446C>G (p.Ser149Ter) c.593C>G (p.Ser198Ter) | |
2 | g.222295530G>T | CA351113037 | PAX3 | c.449C>A (p.Ser150Ter) n.830C>A c.446C>A (p.Ser149Ter) c.593C>A (p.Ser198Ter) | |
2 | g.222295532_222295547del | CA2586971537 | PAX3 | c.434_449del (p.Arg145GlnfsTer2) n.815_830del c.431_446del (p.Arg144GlnfsTer2) c.578_593del (p.Arg193GlnfsTer2) | |
2 | g.222295531A= | CA1330545769 | PAX3 | c.448T= (p.Ser150=) n.829T= c.445T= (p.Ser149=) c.592T= (p.Ser198=) | |
2 | g.222295531A>C | CA351113038 | PAX3 | c.448T>G (p.Ser150Ala) n.829T>G c.445T>G (p.Ser149Ala) c.592T>G (p.Ser198Ala) | |
2 | g.222295531A>G | CA66340495 | PAX3 | c.448T>C (p.Ser150Pro) n.829T>C c.445T>C (p.Ser149Pro) c.592T>C (p.Ser198Pro) | ClinVar dbSNP |
2 | g.222295531A>T | CA351113039 | PAX3 | c.448T>A (p.Ser150Thr) n.829T>A c.445T>A (p.Ser149Thr) c.592T>A (p.Ser198Thr) | |
2 | g.222295532C>A | CA431575796 | PAX3 | c.447G>T (p.Pro149=) n.828G>T c.444G>T (p.Pro148=) c.591G>T (p.Pro197=) | dbSNP gnomAD v4 |
2 | g.222295532C= | CA1330545770 | PAX3 | c.447G= (p.Pro149=) n.828G= c.444G= (p.Pro148=) c.591G= (p.Pro197=) | |
2 | g.222295532C>G | CA431575797 | PAX3 | c.447G>C (p.Pro149=) n.828G>C c.444G>C (p.Pro148=) c.591G>C (p.Pro197=) | |
2 | g.222295532C>T | CA431575795 | PAX3 | c.447G>A (p.Pro149=) n.828G>A c.444G>A (p.Pro148=) c.591G>A (p.Pro197=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295532_222295533insT | CA66340496 | PAX3 | c.446_447insA (p.Ser150ValfsTer12) n.827_828insA c.443_444insA (p.Ser149ValfsTer12) c.590_591insA (p.Ser198ValfsTer12) | dbSNP |
2 | g.222295533G>A | CA351113042 | PAX3 | c.446C>T (p.Pro149Leu) n.827C>T c.443C>T (p.Pro148Leu) c.590C>T (p.Pro197Leu) | dbSNP gnomAD v4 |
2 | g.222295533G>C | CA351113040 | PAX3 | c.446C>G (p.Pro149Arg) n.827C>G c.443C>G (p.Pro148Arg) c.590C>G (p.Pro197Arg) | gnomAD v4 |
2 | g.222295533G= | CA1330545771 | PAX3 | c.446C= (p.Pro149=) n.827C= c.443C= (p.Pro148=) c.590C= (p.Pro197=) | |
2 | g.222295533G>T | CA351113041 | PAX3 | c.446C>A (p.Pro149Gln) n.827C>A c.443C>A (p.Pro148Gln) c.590C>A (p.Pro197Gln) | gnomAD v4 |
2 | g.222295534del | CA2586971538 | PAX3 | c.446del (p.Pro149ArgfsTer3) n.827del c.443del (p.Pro148ArgfsTer3) c.590del (p.Pro197ArgfsTer3) | |
2 | g.222295534G>A | CA351113043 | PAX3 | c.445C>T (p.Pro149Ser) n.826C>T c.442C>T (p.Pro148Ser) c.589C>T (p.Pro197Ser) | |
2 | g.222295534G>C | CA351113044 | PAX3 | c.445C>G (p.Pro149Ala) n.826C>G c.442C>G (p.Pro148Ala) c.589C>G (p.Pro197Ala) | |
2 | g.222295534G>T | CA351113045 | PAX3 | c.445C>A (p.Pro149Thr) n.826C>A c.442C>A (p.Pro148Thr) c.589C>A (p.Pro197Thr) | |
2 | g.222295535C>A | CA2135748 | PAX3 | c.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 |
2 | g.222295535C= | CA1330545772 | PAX3 | c.444G= (p.Val148=) n.825G= c.441G= (p.Val147=) c.588G= (p.Val196=) | |
2 | g.222295535C>G | CA431575798 | PAX3 | c.444G>C (p.Val148=) n.825G>C c.441G>C (p.Val147=) c.588G>C (p.Val196=) | |
2 | g.222295535C>T | CA431575799 | PAX3 | c.444G>A (p.Val148=) n.825G>A c.441G>A (p.Val147=) c.588G>A (p.Val196=) | |
2 | g.222295536A>C | CA351113048 | PAX3 | c.443T>G (p.Val148Gly) n.824T>G c.440T>G (p.Val147Gly) c.587T>G (p.Val196Gly) | gnomAD v4 |
2 | g.222295536A>G | CA351113047 | PAX3 | c.443T>C (p.Val148Ala) n.824T>C c.440T>C (p.Val147Ala) c.587T>C (p.Val196Ala) | |
2 | g.222295536A>T | CA351113046 | PAX3 | c.443T>A (p.Val148Glu) n.824T>A c.440T>A (p.Val147Glu) c.587T>A (p.Val196Glu) | |
2 | g.222295537C>A | CA351113049 | PAX3 | c.442G>T (p.Val148Leu) n.823G>T c.439G>T (p.Val147Leu) c.586G>T (p.Val196Leu) | |
2 | g.222295537C>G | CA351113050 | PAX3 | c.442G>C (p.Val148Leu) n.823G>C c.439G>C (p.Val147Leu) c.586G>C (p.Val196Leu) | |
2 | g.222295537C>T | CA351113051 | PAX3 | c.442G>A (p.Val148Met) n.823G>A c.439G>A (p.Val147Met) c.586G>A (p.Val196Met) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222295538G>A | CA431575800 | PAX3 | c.441C>T (p.Thr147=) n.822C>T c.438C>T (p.Thr146=) c.585C>T (p.Thr195=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295538G>C | CA431575801 | PAX3 | c.441C>G (p.Thr147=) n.822C>G c.438C>G (p.Thr146=) c.585C>G (p.Thr195=) | gnomAD v4 |
2 | g.222295538G>T | CA431575802 | PAX3 | c.441C>A (p.Thr147=) n.822C>A c.438C>A (p.Thr146=) c.585C>A (p.Thr195=) | |
2 | g.222295538_222295546dup | CA2577257578 | PAX3 | c.433_441dup (p.Thr147_Val148insArgAsnThr) n.814_822dup c.430_438dup (p.Thr146_Val147insArgAsnThr) c.577_585dup (p.Thr195_Val196insArgAsnThr) | gnomAD v4 |
2 | g.222295539G>A | CA66340497 | PAX3 | c.440C>T (p.Thr147Ile) n.821C>T c.437C>T (p.Thr146Ile) c.584C>T (p.Thr195Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295539G>C | CA351113052 | PAX3 | c.440C>G (p.Thr147Ser) n.821C>G c.437C>G (p.Thr146Ser) c.584C>G (p.Thr195Ser) | |
2 | g.222295539G= | CA1330545773 | PAX3 | c.440C= (p.Thr147=) n.821C= c.437C= (p.Thr146=) c.584C= (p.Thr195=) | |
2 | g.222295539G>T | CA351113053 | PAX3 | c.440C>A (p.Thr147Asn) n.821C>A c.437C>A (p.Thr146Asn) c.584C>A (p.Thr195Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295540T>A | CA351113054 | PAX3 | c.439A>T (p.Thr147Ser) n.820A>T c.436A>T (p.Thr146Ser) c.583A>T (p.Thr195Ser) | |
2 | g.222295540T>C | CA351113056 | PAX3 | c.439A>G (p.Thr147Ala) n.820A>G c.436A>G (p.Thr146Ala) c.583A>G (p.Thr195Ala) | |
2 | g.222295540T>G | CA351113055 | PAX3 | c.439A>C (p.Thr147Pro) n.820A>C c.436A>C (p.Thr146Pro) c.583A>C (p.Thr195Pro) | |
2 | g.222295541G>A | CA431575803 | PAX3 | c.438C>T (p.Asn146=) n.819C>T c.435C>T (p.Asn145=) c.582C>T (p.Asn194=) | dbSNP |
2 | g.222295541G>C | CA351113057 | PAX3 | c.438C>G (p.Asn146Lys) n.819C>G c.435C>G (p.Asn145Lys) c.582C>G (p.Asn194Lys) | |
2 | g.222295541G= | CA1330545774 | PAX3 | c.438C= (p.Asn146=) n.819C= c.435C= (p.Asn145=) c.582C= (p.Asn194=) | |
2 | g.222295541G>T | CA351113058 | PAX3 | c.438C>A (p.Asn146Lys) n.819C>A c.435C>A (p.Asn145Lys) c.582C>A (p.Asn194Lys) | |
2 | g.222295542T>A | CA351113059 | PAX3 | c.437A>T (p.Asn146Ile) n.818A>T c.434A>T (p.Asn145Ile) c.581A>T (p.Asn194Ile) | |
2 | g.222295542T>C | CA351113061 | PAX3 | c.437A>G (p.Asn146Ser) n.818A>G c.434A>G (p.Asn145Ser) c.581A>G (p.Asn194Ser) | |
2 | g.222295542T>G | CA351113060 | PAX3 | c.437A>C (p.Asn146Thr) n.818A>C c.434A>C (p.Asn145Thr) c.581A>C (p.Asn194Thr) | |
2 | g.222295543T>A | CA351113062 | PAX3 | c.436A>T (p.Asn146Tyr) n.817A>T c.433A>T (p.Asn145Tyr) c.580A>T (p.Asn194Tyr) | |
2 | g.222295543T>C | CA351113063 | PAX3 | c.436A>G (p.Asn146Asp) n.817A>G c.433A>G (p.Asn145Asp) c.580A>G (p.Asn194Asp) | dbSNP gnomAD v4 |
2 | g.222295543T>G | CA351113064 | PAX3 | c.436A>C (p.Asn146His) n.817A>C c.433A>C (p.Asn145His) c.580A>C (p.Asn194His) | |
2 | g.222295543T= | CA1330545775 | PAX3 | c.436A= (p.Asn146=) n.817A= c.433A= (p.Asn145=) c.580A= (p.Asn194=) | |
2 | g.222295544T>A | CA431575804 | PAX3 | c.435A>T (p.Arg145=) n.816A>T c.432A>T (p.Arg144=) c.579A>T (p.Arg193=) | |
2 | g.222295544T>C | CA431575805 | PAX3 | c.435A>G (p.Arg145=) n.816A>G c.432A>G (p.Arg144=) c.579A>G (p.Arg193=) | |
2 | g.222295544T>G | CA431575806 | PAX3 | c.435A>C (p.Arg145=) n.816A>C c.432A>C (p.Arg144=) c.579A>C (p.Arg193=) | |
2 | g.222295545C>A | CA351113065 | PAX3 | c.434G>T (p.Arg145Leu) n.815G>T c.431G>T (p.Arg144Leu) c.578G>T (p.Arg193Leu) | dbSNP |
2 | g.222295545C= | CA1330545776 | PAX3 | c.434G= (p.Arg145=) n.815G= c.431G= (p.Arg144=) c.578G= (p.Arg193=) | |
2 | g.222295545C>G | CA351113066 | PAX3 | c.434G>C (p.Arg145Pro) n.815G>C c.431G>C (p.Arg144Pro) c.578G>C (p.Arg193Pro) | |
2 | g.222295545C>T | CA351113067 | PAX3 | c.434G>A (p.Arg145Gln) n.815G>A c.431G>A (p.Arg144Gln) c.578G>A (p.Arg193Gln) | |
2 | g.222295546G>A | CA351113069 | PAX3 | c.433C>T (p.Arg145Ter) n.814C>T c.430C>T (p.Arg144Ter) c.577C>T (p.Arg193Ter) | ClinVar |
2 | g.222295546G>C | CA351113068 | PAX3 | c.433C>G (p.Arg145Gly) n.814C>G c.430C>G (p.Arg144Gly) c.577C>G (p.Arg193Gly) | gnomAD v4 |
2 | g.222295546G= | CA1330545777 | PAX3 | c.433C= (p.Arg145=) n.814C= c.430C= (p.Arg144=) c.577C= (p.Arg193=) | |
2 | g.222295546G>T | CA431575807 | PAX3 | c.433C>A (p.Arg145=) n.814C>A c.430C>A (p.Arg144=) c.577C>A (p.Arg193=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295547A= | CA1330545778 | PAX3 | c.432T= (p.Asp144=) n.813T= c.429T= (p.Asp143=) c.576T= (p.Asp192=) | |
2 | g.222295547A>C | CA351113070 | PAX3 | c.432T>G (p.Asp144Glu) n.813T>G c.429T>G (p.Asp143Glu) c.576T>G (p.Asp192Glu) | |
2 | g.222295547A>G | CA2135749 | PAX3 | c.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 |
2 | g.222295547A>T | CA351113071 | PAX3 | c.432T>A (p.Asp144Glu) n.813T>A c.429T>A (p.Asp143Glu) c.576T>A (p.Asp192Glu) | |
2 | g.222295548T>A | CA351113072 | PAX3 | c.431A>T (p.Asp144Val) n.812A>T c.428A>T (p.Asp143Val) c.575A>T (p.Asp192Val) | |
2 | g.222295548T>C | CA351113073 | PAX3 | c.431A>G (p.Asp144Gly) n.812A>G c.428A>G (p.Asp143Gly) c.575A>G (p.Asp192Gly) | |
2 | g.222295548T>G | CA351113074 | PAX3 | c.431A>C (p.Asp144Ala) n.812A>C c.428A>C (p.Asp143Ala) c.575A>C (p.Asp192Ala) | |
2 | g.222295549C>A | CA2135750 | PAX3 | c.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 |
2 | g.222295549C= | CA1330545779 | PAX3 | c.430G= (p.Asp144=) n.811G= c.427G= (p.Asp143=) c.574G= (p.Asp192=) | |
2 | g.222295549C>G | CA351113076 | PAX3 | c.430G>C (p.Asp144His) n.811G>C c.427G>C (p.Asp143His) c.574G>C (p.Asp192His) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295549C>T | CA351113075 | PAX3 | c.430G>A (p.Asp144Asn) n.811G>A c.427G>A (p.Asp143Asn) c.574G>A (p.Asp192Asn) | |
2 | g.222295550A>C | CA351113077 | PAX3 | c.429T>G (p.Cys143Trp) n.810T>G c.426T>G (p.Cys142Trp) c.573T>G (p.Cys191Trp) | |
2 | g.222295550A>G | CA431575808 | PAX3 | c.429T>C (p.Cys143=) n.810T>C c.426T>C (p.Cys142=) c.573T>C (p.Cys191=) | ClinVar dbSNP gnomAD v4 |
2 | g.222295550A>T | CA351113078 | PAX3 | c.429T>A (p.Cys143Ter) n.810T>A c.426T>A (p.Cys142Ter) c.573T>A (p.Cys191Ter) | |
2 | g.222295551C>A | CA351113079 | PAX3 | c.428G>T (p.Cys143Phe) n.809G>T c.425G>T (p.Cys142Phe) c.572G>T (p.Cys191Phe) | |
2 | g.222295551C>G | CA351113080 | PAX3 | c.428G>C (p.Cys143Ser) n.809G>C c.425G>C (p.Cys142Ser) c.572G>C (p.Cys191Ser) | |
2 | g.222295551C>T | CA351113081 | PAX3 | c.428G>A (p.Cys143Tyr) n.809G>A c.425G>A (p.Cys142Tyr) c.572G>A (p.Cys191Tyr) | gnomAD v4 |
2 | g.222295552A>C | CA351113082 | PAX3 | c.427T>G (p.Cys143Gly) n.808T>G c.424T>G (p.Cys142Gly) c.571T>G (p.Cys191Gly) | |
2 | g.222295552A>G | CA351113083 | PAX3 | c.427T>C (p.Cys143Arg) n.808T>C c.424T>C (p.Cys142Arg) c.571T>C (p.Cys191Arg) | |
2 | g.222295552A>T | CA351113084 | PAX3 | c.427T>A (p.Cys143Ser) n.808T>A c.424T>A (p.Cys142Ser) c.571T>A (p.Cys191Ser) | |
2 | g.222295553G>A | CA431575809 | PAX3 | c.426C>T (p.Val142=) n.807C>T c.423C>T (p.Val141=) c.570C>T (p.Val190=) | |
2 | g.222295553G>C | CA431575811 | PAX3 | c.426C>G (p.Val142=) n.807C>G c.423C>G (p.Val141=) c.570C>G (p.Val190=) | |
2 | g.222295553G>T | CA431575810 | PAX3 | c.426C>A (p.Val142=) n.807C>A c.423C>A (p.Val141=) c.570C>A (p.Val190=) | |
2 | g.222295554A= | CA1330545780 | PAX3 | c.425T= (p.Val142=) n.806T= c.422T= (p.Val141=) c.569T= (p.Val190=) | |
2 | g.222295554A>C | CA351113085 | PAX3 | c.425T>G (p.Val142Gly) n.806T>G c.422T>G (p.Val141Gly) c.569T>G (p.Val190Gly) | dbSNP |
2 | g.222295554A>G | CA351113086 | PAX3 | c.425T>C (p.Val142Ala) n.806T>C c.422T>C (p.Val141Ala) c.569T>C (p.Val190Ala) | |
2 | g.222295554A>T | CA351113087 | PAX3 | c.425T>A (p.Val142Asp) n.806T>A c.422T>A (p.Val141Asp) c.569T>A (p.Val190Asp) | |
2 | g.222295555C>A | CA351113088 | PAX3 | c.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 |
2 | g.222295555C= | CA1330545781 | PAX3 | c.424G= (p.Val142=) n.805G= c.421G= (p.Val141=) c.568G= (p.Val190=) | |
2 | g.222295555C>G | CA351113090 | PAX3 | c.424G>C (p.Val142Leu) n.805G>C c.421G>C (p.Val141Leu) c.568G>C (p.Val190Leu) | |
2 | g.222295555C>T | CA351113089 | PAX3 | c.424G>A (p.Val142Ile) n.805G>A c.421G>A (p.Val141Ile) c.568G>A (p.Val190Ile) | gnomAD v4 |
2 | g.222295555_222295559delinsGTAA | CA2586971539 | PAX3 | c.420_424delinsTTAC (p.Ala141TyrfsTer11) n.801_805delinsTTAC c.417_421delinsTTAC (p.Ala140TyrfsTer11) c.564_568delinsTTAC (p.Ala189TyrfsTer11) | |
2 | g.222295556C>A | CA431575812 | PAX3 | c.423G>T (p.Ala141=) n.804G>T c.420G>T (p.Ala140=) c.567G>T (p.Ala189=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222295556C= | CA1330545782 | PAX3 | c.423G= (p.Ala141=) n.804G= c.420G= (p.Ala140=) c.567G= (p.Ala189=) | |
2 | g.222295556C>G | CA431575813 | PAX3 | c.423G>C (p.Ala141=) n.804G>C c.420G>C (p.Ala140=) c.567G>C (p.Ala189=) | dbSNP |
2 | g.222295556C>T | CA431575814 | PAX3 | c.423G>A (p.Ala141=) n.804G>A c.420G>A (p.Ala140=) c.567G>A (p.Ala189=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222295557G>A | CA351113091 | PAX3 | c.422C>T (p.Ala141Val) n.803C>T c.419C>T (p.Ala140Val) c.566C>T (p.Ala189Val) | |
2 | g.222295557G>C | CA351113092 | PAX3 | c.422C>G (p.Ala141Gly) n.803C>G c.419C>G (p.Ala140Gly) c.566C>G (p.Ala189Gly) | |
2 | g.222295557G>T | CA351113093 | PAX3 | c.422C>A (p.Ala141Glu) n.803C>A c.419C>A (p.Ala140Glu) c.566C>A (p.Ala189Glu) | |
2 | g.222295558C>A | CA351113094 | PAX3 | c.421G>T (p.Ala141Ser) n.802G>T c.418G>T (p.Ala140Ser) c.565G>T (p.Ala189Ser) | |
2 | g.222295558C= | CA1330545783 | PAX3 | c.421G= (p.Ala141=) n.802G= c.418G= (p.Ala140=) c.565G= (p.Ala189=) | |
2 | g.222295558C>G | CA351113095 | PAX3 | c.421G>C (p.Ala141Pro) n.802G>C c.418G>C (p.Ala140Pro) c.565G>C (p.Ala189Pro) | |
2 | g.222295558C>T | CA351113096 | PAX3 | c.421G>A (p.Ala141Thr) n.802G>A c.418G>A (p.Ala140Thr) c.565G>A (p.Ala189Thr) | dbSNP gnomAD v4 |
2 | g.222295559G>A | CA431575815 | PAX3 | c.420C>T (p.Asp140=) n.801C>T c.417C>T (p.Asp139=) c.564C>T (p.Asp188=) | gnomAD v4 |
2 | g.222295559G>C | CA351113097 | PAX3 | c.420C>G (p.Asp140Glu) n.801C>G c.417C>G (p.Asp139Glu) c.564C>G (p.Asp188Glu) | |
2 | g.222295559G= | CA1330545784 | PAX3 | c.420C= (p.Asp140=) n.801C= c.417C= (p.Asp139=) c.564C= (p.Asp188=) | |
2 | g.222295559G>T | CA351113098 | PAX3 | c.420C>A (p.Asp140Glu) n.801C>A c.417C>A (p.Asp139Glu) c.564C>A (p.Asp188Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295560del | CA645523631 | PAX3 | c.419del (p.Asp140AlafsTer12) n.800del c.416del (p.Asp139AlafsTer12) c.563del (p.Asp188AlafsTer12) | COSMIC COSMIC COSMIC COSMIC |
2 | g.222295560T>A | CA351113099 | PAX3 | c.419A>T (p.Asp140Val) n.800A>T c.416A>T (p.Asp139Val) c.563A>T (p.Asp188Val) | |
2 | g.222295560T>C | CA351113100 | PAX3 | c.419A>G (p.Asp140Gly) n.800A>G c.416A>G (p.Asp139Gly) c.563A>G (p.Asp188Gly) | |
2 | g.222295560T>G | CA351113101 | PAX3 | c.419A>C (p.Asp140Ala) n.800A>C c.416A>C (p.Asp139Ala) c.563A>C (p.Asp188Ala) | |
2 | g.222295561C>A | CA351113104 | PAX3 | c.418G>T (p.Asp140Tyr) n.799G>T c.415G>T (p.Asp139Tyr) c.562G>T (p.Asp188Tyr) | |
2 | g.222295561C>G | CA351113102 | PAX3 | c.418G>C (p.Asp140His) n.799G>C c.415G>C (p.Asp139His) c.562G>C (p.Asp188His) | |
2 | g.222295561C>T | CA351113103 | PAX3 | c.418G>A (p.Asp140Asn) n.799G>A c.415G>A (p.Asp139Asn) c.562G>A (p.Asp188Asn) | |
2 | g.222295562C>A | CA351113105 | PAX3 | c.417G>T (p.Lys139Asn) n.798G>T c.414G>T (p.Lys138Asn) c.561G>T (p.Lys187Asn) | |
2 | g.222295562C= | CA1330545785 | PAX3 | c.417G= (p.Lys139=) n.798G= c.414G= (p.Lys138=) c.561G= (p.Lys187=) | |
2 | g.222295562C>G | CA351113106 | PAX3 | c.417G>C (p.Lys139Asn) n.798G>C c.414G>C (p.Lys138Asn) c.561G>C (p.Lys187Asn) | |
2 | g.222295562C>T | CA431575816 | PAX3 | c.417G>A (p.Lys139=) n.798G>A c.414G>A (p.Lys138=) c.561G>A (p.Lys187=) | dbSNP |
2 | g.222295563T>A | CA351113107 | PAX3 | c.416A>T (p.Lys139Met) n.797A>T c.413A>T (p.Lys138Met) c.560A>T (p.Lys187Met) | |
2 | g.222295563T>C | CA351113108 | PAX3 | c.416A>G (p.Lys139Arg) n.797A>G c.413A>G (p.Lys138Arg) c.560A>G (p.Lys187Arg) | |
2 | g.222295563T>G | CA351113109 | PAX3 | c.416A>C (p.Lys139Thr) n.797A>C c.413A>C (p.Lys138Thr) c.560A>C (p.Lys187Thr) | |
2 | g.222295564T>A | CA10581222 | PAX3 | c.415A>T (p.Lys139Ter) n.796A>T c.412A>T (p.Lys138Ter) c.559A>T (p.Lys187Ter) | ClinVar dbSNP |
2 | g.222295564T>C | CA351113110 | PAX3 | c.415A>G (p.Lys139Glu) n.796A>G c.412A>G (p.Lys138Glu) c.559A>G (p.Lys187Glu) | |
2 | g.222295564T>G | CA351113111 | PAX3 | c.415A>C (p.Lys139Gln) n.796A>C c.412A>C (p.Lys138Gln) c.559A>C (p.Lys187Gln) | |
2 | g.222295564T= | CA1330545786 | PAX3 | c.415A= (p.Lys139=) n.796A= c.412A= (p.Lys138=) c.559A= (p.Lys187=) | |
2 | g.222295565G>A | CA431575818 | PAX3 | c.414C>T (p.Leu138=) n.795C>T c.411C>T (p.Leu137=) c.558C>T (p.Leu186=) | gnomAD v4 |
2 | g.222295565G>C | CA431575820 | PAX3 | c.414C>G (p.Leu138=) n.795C>G c.411C>G (p.Leu137=) c.558C>G (p.Leu186=) | |
2 | g.222295565G>T | CA431575819 | PAX3 | c.414C>A (p.Leu138=) n.795C>A c.411C>A (p.Leu137=) c.558C>A (p.Leu186=) | |
2 | g.222295566A>C | CA351113112 | PAX3 | c.413T>G (p.Leu138Arg) n.794T>G c.410T>G (p.Leu137Arg) c.557T>G (p.Leu186Arg) | |
2 | g.222295566A>G | CA351113113 | PAX3 | c.413T>C (p.Leu138Pro) n.794T>C c.410T>C (p.Leu137Pro) c.557T>C (p.Leu186Pro) | |
2 | g.222295566A>T | CA351113114 | PAX3 | c.413T>A (p.Leu138His) n.794T>A c.410T>A (p.Leu137His) c.557T>A (p.Leu186His) | |
2 | g.222295567G>A | CA351113116 | PAX3 | c.412C>T (p.Leu138Phe) n.793C>T c.409C>T (p.Leu137Phe) c.556C>T (p.Leu186Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222295567G>C | CA351113117 | PAX3 | c.412C>G (p.Leu138Val) n.793C>G c.409C>G (p.Leu137Val) c.556C>G (p.Leu186Val) | gnomAD v4 |
2 | g.222295567G= | CA1330545787 | PAX3 | c.412C= (p.Leu138=) n.793C= c.409C= (p.Leu137=) c.556C= (p.Leu186=) | |
2 | g.222295567G>T | CA351113115 | PAX3 | c.412C>A (p.Leu138Ile) n.793C>A c.409C>A (p.Leu137Ile) c.556C>A (p.Leu186Ile) | |
2 | g.222295568T>A | CA351113118 | PAX3 | c.411A>T (p.Leu137Phe) n.792A>T c.408A>T (p.Leu136Phe) c.555A>T (p.Leu185Phe) | |
2 | g.222295568T>C | CA431575821 | PAX3 | c.411A>G (p.Leu137=) n.792A>G c.408A>G (p.Leu136=) c.555A>G (p.Leu185=) | |
2 | g.222295568T>G | CA351113119 | PAX3 | c.411A>C (p.Leu137Phe) n.792A>C c.408A>C (p.Leu136Phe) c.555A>C (p.Leu185Phe) | |
2 | g.222295569A>C | CA351113120 | PAX3 | c.410T>G (p.Leu137Ter) n.791T>G c.407T>G (p.Leu136Ter) c.554T>G (p.Leu185Ter) | |
2 | g.222295569A>G | CA351113121 | PAX3 | c.410T>C (p.Leu137Ser) n.791T>C c.407T>C (p.Leu136Ser) c.554T>C (p.Leu185Ser) | |
2 | g.222295569A>T | CA351113122 | PAX3 | c.410T>A (p.Leu137Ter) n.791T>A c.407T>A (p.Leu136Ter) c.554T>A (p.Leu185Ter) | |
2 | g.222295570A>C | CA351113123 | PAX3 | c.409T>G (p.Leu137Val) n.790T>G c.406T>G (p.Leu136Val) c.553T>G (p.Leu185Val) | |
2 | g.222295570A>G | CA431575822 | PAX3 | c.409T>C (p.Leu137=) n.790T>C c.406T>C (p.Leu136=) c.553T>C (p.Leu185=) | |
2 | g.222295570A>T | CA351113124 | PAX3 | c.409T>A (p.Leu137Ile) n.790T>A c.406T>A (p.Leu136Ile) c.553T>A (p.Leu185Ile) | |
2 | g.222295571T>A | CA351113125 | PAX3 | c.408A>T (p.Lys136Asn) n.789A>T c.405A>T (p.Lys135Asn) c.552A>T (p.Lys184Asn) | |
2 | g.222295571T>C | CA431575823 | PAX3 | c.408A>G (p.Lys136=) n.789A>G c.405A>G (p.Lys135=) c.552A>G (p.Lys184=) | |
2 | g.222295571T>G | CA351113126 | PAX3 | c.408A>C (p.Lys136Asn) n.789A>C c.405A>C (p.Lys135Asn) c.552A>C (p.Lys184Asn) | |
2 | g.222295572_222295573del | CA2663323847 | PAX3 | c.407_408del (p.Lys136IlefsTer8) n.788_789del c.404_405del (p.Lys135IlefsTer8) c.551_552del (p.Lys184IlefsTer8) | gnomAD v4 |
2 | g.222295572T>A | CA351113127 | PAX3 | c.407A>T (p.Lys136Ile) n.788A>T c.404A>T (p.Lys135Ile) c.551A>T (p.Lys184Ile) | |
2 | g.222295572T>C | CA351113128 | PAX3 | c.407A>G (p.Lys136Arg) n.788A>G c.404A>G (p.Lys135Arg) c.551A>G (p.Lys184Arg) | |
2 | g.222295572T>G | CA351113129 | PAX3 | c.407A>C (p.Lys136Thr) n.788A>C c.404A>C (p.Lys135Thr) c.551A>C (p.Lys184Thr) | |
2 | g.222295573T>A | CA351113130 | PAX3 | c.406A>T (p.Lys136Ter) n.787A>T c.403A>T (p.Lys135Ter) c.550A>T (p.Lys184Ter) | |
2 | g.222295573T>C | CA351113131 | PAX3 | c.406A>G (p.Lys136Glu) n.787A>G c.403A>G (p.Lys135Glu) c.550A>G (p.Lys184Glu) | |
2 | g.222295573T>G | CA351113132 | PAX3 | c.406A>C (p.Lys136Gln) n.787A>C c.403A>C (p.Lys135Gln) c.550A>C (p.Lys184Gln) | |
2 | g.222295574G>A | CA2135751 | PAX3 | c.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 |
2 | g.222295574G>C | CA351113134 | PAX3 | c.405C>G (p.Asp135Glu) n.786C>G c.402C>G (p.Asp134Glu) c.549C>G (p.Asp183Glu) | |
2 | g.222295574G= | CA1330545788 | PAX3 | c.405C= (p.Asp135=) n.786C= c.402C= (p.Asp134=) c.549C= (p.Asp183=) | |
2 | g.222295574G>T | CA351113133 | PAX3 | c.405C>A (p.Asp135Glu) n.786C>A c.402C>A (p.Asp134Glu) c.549C>A (p.Asp183Glu) | |
2 | g.222295575T>A | CA351113135 | PAX3 | c.404A>T (p.Asp135Val) n.785A>T c.401A>T (p.Asp134Val) c.548A>T (p.Asp183Val) | |
2 | g.222295575T>C | CA351113136 | PAX3 | c.404A>G (p.Asp135Gly) n.785A>G c.401A>G (p.Asp134Gly) c.548A>G (p.Asp183Gly) | dbSNP gnomAD v4 |
2 | g.222295575T>G | CA351113137 | PAX3 | c.404A>C (p.Asp135Ala) n.785A>C c.401A>C (p.Asp134Ala) c.548A>C (p.Asp183Ala) | |
2 | g.222295575T= | CA1330545789 | PAX3 | c.404A= (p.Asp135=) n.785A= c.401A= (p.Asp134=) c.548A= (p.Asp183=) |