Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32364555C=CA2422769871DMDc.5154+27G= (n.5154+27G=)
c.1122+27G= (n.1122+27G=)
c.5142+27G= (n.5142+27G=)
n.336-147492G=
c.5130+27G= (n.5130+27G=)
c.4785+27G= (n.4785+27G=)
c.1131+27G= (n.1131+27G=)
c.5025+27G= (n.5025+27G=)
Xg.32364555C>TCA874708084DMDc.5154+27G>A (n.5154+27G>A)
c.1122+27G>A (n.1122+27G>A)
c.5142+27G>A (n.5142+27G>A)
n.336-147492G>A
c.5130+27G>A (n.5130+27G>A)
c.4785+27G>A (n.4785+27G>A)
c.1131+27G>A (n.1131+27G>A)
c.5025+27G>A (n.5025+27G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.32364556A=CA2422769872DMDc.5154+26T= (n.5154+26T=)
c.1122+26T= (n.1122+26T=)
c.5142+26T= (n.5142+26T=)
n.336-147493T=
c.5130+26T= (n.5130+26T=)
c.4785+26T= (n.4785+26T=)
c.1131+26T= (n.1131+26T=)
c.5025+26T= (n.5025+26T=)
Xg.32364556A>GCA640966121DMDc.5154+26T>C (n.5154+26T>C)
c.1122+26T>C (n.1122+26T>C)
c.5142+26T>C (n.5142+26T>C)
n.336-147493T>C
c.5130+26T>C (n.5130+26T>C)
c.4785+26T>C (n.4785+26T>C)
c.1131+26T>C (n.1131+26T>C)
c.5025+26T>C (n.5025+26T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.32364558T>GCA2693407098DMDc.5154+24A>C (n.5154+24A>C)
c.1122+24A>C (n.1122+24A>C)
c.5142+24A>C (n.5142+24A>C)
n.336-147495A>C
c.5130+24A>C (n.5130+24A>C)
c.4785+24A>C (n.4785+24A>C)
c.1131+24A>C (n.1131+24A>C)
c.5025+24A>C (n.5025+24A>C)
 gnomAD v4
Xg.32364560C>GCA2693407099DMDc.5154+22G>C (n.5154+22G>C)
c.1122+22G>C (n.1122+22G>C)
c.5142+22G>C (n.5142+22G>C)
n.336-147497G>C
c.5130+22G>C (n.5130+22G>C)
c.4785+22G>C (n.4785+22G>C)
c.1131+22G>C (n.1131+22G>C)
c.5025+22G>C (n.5025+22G>C)
 gnomAD v4
Xg.32364560_32364561delinsCTCA2422769873DMDc.5154+21_5154+22delinsAG (n.5154+21_5154+22delinsAG)
c.1122+21_1122+22delinsAG (n.1122+21_1122+22delinsAG)
c.5142+21_5142+22delinsAG (n.5142+21_5142+22delinsAG)
n.336-147498_336-147497delinsAG
c.5130+21_5130+22delinsAG (n.5130+21_5130+22delinsAG)
c.4785+21_4785+22delinsAG (n.4785+21_4785+22delinsAG)
c.1131+21_1131+22delinsAG (n.1131+21_1131+22delinsAG)
c.5025+21_5025+22delinsAG (n.5025+21_5025+22delinsAG)
Xg.32364564delCA640966122DMDc.5154+21del (n.5154+21del)
c.1122+21del (n.1122+21del)
c.5142+21del (n.5142+21del)
n.336-147498del
c.5130+21del (n.5130+21del)
c.4785+21del (n.4785+21del)
c.1131+21del (n.1131+21del)
c.5025+21del (n.5025+21del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364562T>CCA2693407100DMDc.5154+20A>G (n.5154+20A>G)
c.1122+20A>G (n.1122+20A>G)
c.5142+20A>G (n.5142+20A>G)
n.336-147499A>G
c.5130+20A>G (n.5130+20A>G)
c.4785+20A>G (n.4785+20A>G)
c.1131+20A>G (n.1131+20A>G)
c.5025+20A>G (n.5025+20A>G)
 gnomAD v4
Xg.32364563T>CCA2693407101DMDc.5154+19A>G (n.5154+19A>G)
c.1122+19A>G (n.1122+19A>G)
c.5142+19A>G (n.5142+19A>G)
n.336-147500A>G
c.5130+19A>G (n.5130+19A>G)
c.4785+19A>G (n.4785+19A>G)
c.1131+19A>G (n.1131+19A>G)
c.5025+19A>G (n.5025+19A>G)
 gnomAD v4
Xg.32364563T>GCA327995123DMDc.5154+19A>C (n.5154+19A>C)
c.1122+19A>C (n.1122+19A>C)
c.5142+19A>C (n.5142+19A>C)
n.336-147500A>C
c.5130+19A>C (n.5130+19A>C)
c.4785+19A>C (n.4785+19A>C)
c.1131+19A>C (n.1131+19A>C)
c.5025+19A>C (n.5025+19A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.32364563T=CA2422769874DMDc.5154+19A= (n.5154+19A=)
c.1122+19A= (n.1122+19A=)
c.5142+19A= (n.5142+19A=)
n.336-147500A=
c.5130+19A= (n.5130+19A=)
c.4785+19A= (n.4785+19A=)
c.1131+19A= (n.1131+19A=)
c.5025+19A= (n.5025+19A=)
Xg.32364565C>GCA2739273451DMDc.5154+17G>C (n.5154+17G>C)
c.1122+17G>C (n.1122+17G>C)
c.5142+17G>C (n.5142+17G>C)
n.336-147502G>C
c.5130+17G>C (n.5130+17G>C)
c.4785+17G>C (n.4785+17G>C)
c.1131+17G>C (n.1131+17G>C)
c.5025+17G>C (n.5025+17G>C)
 ClinVar
Xg.32364565C>TCA2738488355DMDc.5154+17G>A (n.5154+17G>A)
c.1122+17G>A (n.1122+17G>A)
c.5142+17G>A (n.5142+17G>A)
n.336-147502G>A
c.5130+17G>A (n.5130+17G>A)
c.4785+17G>A (n.4785+17G>A)
c.1131+17G>A (n.1131+17G>A)
c.5025+17G>A (n.5025+17G>A)
 dbSNP
Xg.32364566A=CA2422769875DMDc.5154+16T= (n.5154+16T=)
c.1122+16T= (n.1122+16T=)
c.5142+16T= (n.5142+16T=)
n.336-147503T=
c.5130+16T= (n.5130+16T=)
c.4785+16T= (n.4785+16T=)
c.1131+16T= (n.1131+16T=)
c.5025+16T= (n.5025+16T=)
Xg.32364566A>GCA10378760DMDc.5154+16T>C (n.5154+16T>C)
c.1122+16T>C (n.1122+16T>C)
c.5142+16T>C (n.5142+16T>C)
n.336-147503T>C
c.5130+16T>C (n.5130+16T>C)
c.4785+16T>C (n.4785+16T>C)
c.1131+16T>C (n.1131+16T>C)
c.5025+16T>C (n.5025+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364567T>CCA915950932DMDc.5154+15A>G (n.5154+15A>G)
c.1122+15A>G (n.1122+15A>G)
c.5142+15A>G (n.5142+15A>G)
n.336-147504A>G
c.5130+15A>G (n.5130+15A>G)
c.4785+15A>G (n.4785+15A>G)
c.1131+15A>G (n.1131+15A>G)
c.5025+15A>G (n.5025+15A>G)
 ClinVar dbSNP
Xg.32364567T=CA2422769876DMDc.5154+15A= (n.5154+15A=)
c.1122+15A= (n.1122+15A=)
c.5142+15A= (n.5142+15A=)
n.336-147504A=
c.5130+15A= (n.5130+15A=)
c.4785+15A= (n.4785+15A=)
c.1131+15A= (n.1131+15A=)
c.5025+15A= (n.5025+15A=)
Xg.32364568A=CA2422769877DMDc.5154+14T= (n.5154+14T=)
c.1122+14T= (n.1122+14T=)
c.5142+14T= (n.5142+14T=)
n.336-147505T=
c.5130+14T= (n.5130+14T=)
c.4785+14T= (n.4785+14T=)
c.1131+14T= (n.1131+14T=)
c.5025+14T= (n.5025+14T=)
Xg.32364568A>TCA10378761DMDc.5154+14T>A (n.5154+14T>A)
c.1122+14T>A (n.1122+14T>A)
c.5142+14T>A (n.5142+14T>A)
n.336-147505T>A
c.5130+14T>A (n.5130+14T>A)
c.4785+14T>A (n.4785+14T>A)
c.1131+14T>A (n.1131+14T>A)
c.5025+14T>A (n.5025+14T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364572delCA2693407102DMDc.5154+13del (n.5154+13del)
c.1122+13del (n.1122+13del)
c.5142+13del (n.5142+13del)
n.336-147506del
c.5130+13del (n.5130+13del)
c.4785+13del (n.4785+13del)
c.1131+13del (n.1131+13del)
c.5025+13del (n.5025+13del)
 gnomAD v4
Xg.32364571T>CCA2422769879DMDc.5154+11A>G (n.5154+11A>G)
c.1122+11A>G (n.1122+11A>G)
c.5142+11A>G (n.5142+11A>G)
n.336-147508A>G
c.5130+11A>G (n.5130+11A>G)
c.4785+11A>G (n.4785+11A>G)
c.1131+11A>G (n.1131+11A>G)
c.5025+11A>G (n.5025+11A>G)
 ClinVar dbSNP gnomAD v4
Xg.32364571T=CA2422769878DMDc.5154+11A= (n.5154+11A=)
c.1122+11A= (n.1122+11A=)
c.5142+11A= (n.5142+11A=)
n.336-147508A=
c.5130+11A= (n.5130+11A=)
c.4785+11A= (n.4785+11A=)
c.1131+11A= (n.1131+11A=)
c.5025+11A= (n.5025+11A=)
Xg.32364572T>ACA2693407103DMDc.5154+10A>T (n.5154+10A>T)
c.1122+10A>T (n.1122+10A>T)
c.5142+10A>T (n.5142+10A>T)
n.336-147509A>T
c.5130+10A>T (n.5130+10A>T)
c.4785+10A>T (n.4785+10A>T)
c.1131+10A>T (n.1131+10A>T)
c.5025+10A>T (n.5025+10A>T)
 gnomAD v4
Xg.32364572T>CCA2422769881DMDc.5154+10A>G (n.5154+10A>G)
c.1122+10A>G (n.1122+10A>G)
c.5142+10A>G (n.5142+10A>G)
n.336-147509A>G
c.5130+10A>G (n.5130+10A>G)
c.4785+10A>G (n.4785+10A>G)
c.1131+10A>G (n.1131+10A>G)
c.5025+10A>G (n.5025+10A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.32364572T=CA2422769880DMDc.5154+10A= (n.5154+10A=)
c.1122+10A= (n.1122+10A=)
c.5142+10A= (n.5142+10A=)
n.336-147509A=
c.5130+10A= (n.5130+10A=)
c.4785+10A= (n.4785+10A=)
c.1131+10A= (n.1131+10A=)
c.5025+10A= (n.5025+10A=)
Xg.32364573A=CA2422769882DMDc.5154+9T= (n.5154+9T=)
c.1122+9T= (n.1122+9T=)
c.5142+9T= (n.5142+9T=)
n.336-147510T=
c.5130+9T= (n.5130+9T=)
c.4785+9T= (n.4785+9T=)
c.1131+9T= (n.1131+9T=)
c.5025+9T= (n.5025+9T=)
Xg.32364573A>CCA2820322470DMDc.5154+9T>G (n.5154+9T>G)
c.1122+9T>G (n.1122+9T>G)
c.5142+9T>G (n.5142+9T>G)
n.336-147510T>G
c.5130+9T>G (n.5130+9T>G)
c.4785+9T>G (n.4785+9T>G)
c.1131+9T>G (n.1131+9T>G)
c.5025+9T>G (n.5025+9T>G)
Xg.32364573A>GCA10378762DMDc.5154+9T>C (n.5154+9T>C)
c.1122+9T>C (n.1122+9T>C)
c.5142+9T>C (n.5142+9T>C)
n.336-147510T>C
c.5130+9T>C (n.5130+9T>C)
c.4785+9T>C (n.4785+9T>C)
c.1131+9T>C (n.1131+9T>C)
c.5025+9T>C (n.5025+9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364573A>TCA2422769883DMDc.5154+9T>A (n.5154+9T>A)
c.1122+9T>A (n.1122+9T>A)
c.5142+9T>A (n.5142+9T>A)
n.336-147510T>A
c.5130+9T>A (n.5130+9T>A)
c.4785+9T>A (n.4785+9T>A)
c.1131+9T>A (n.1131+9T>A)
c.5025+9T>A (n.5025+9T>A)
 dbSNP gnomAD v4
Xg.32364574T>CCA10378763DMDc.5154+8A>G (n.5154+8A>G)
c.1122+8A>G (n.1122+8A>G)
c.5142+8A>G (n.5142+8A>G)
n.336-147511A>G
c.5130+8A>G (n.5130+8A>G)
c.4785+8A>G (n.4785+8A>G)
c.1131+8A>G (n.1131+8A>G)
c.5025+8A>G (n.5025+8A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364574T=CA2422769884DMDc.5154+8A= (n.5154+8A=)
c.1122+8A= (n.1122+8A=)
c.5142+8A= (n.5142+8A=)
n.336-147511A=
c.5130+8A= (n.5130+8A=)
c.4785+8A= (n.4785+8A=)
c.1131+8A= (n.1131+8A=)
c.5025+8A= (n.5025+8A=)
Xg.32364577delCA2693407104DMDc.5154+5del (n.5154+5del)
c.1122+5del (n.1122+5del)
c.5142+5del (n.5142+5del)
n.336-147514del
c.5130+5del (n.5130+5del)
c.4785+5del (n.4785+5del)
c.1131+5del (n.1131+5del)
c.5025+5del (n.5025+5del)
 gnomAD v4
Xg.32364578C>ACA2693407105DMDc.5154+4G>T (n.5154+4G>T)
c.1122+4G>T (n.1122+4G>T)
c.5142+4G>T (n.5142+4G>T)
n.336-147515G>T
c.5130+4G>T (n.5130+4G>T)
c.4785+4G>T (n.4785+4G>T)
c.1131+4G>T (n.1131+4G>T)
c.5025+4G>T (n.5025+4G>T)
 gnomAD v4
Xg.32364578C=CA2422769885DMDc.5154+4G= (n.5154+4G=)
c.1122+4G= (n.1122+4G=)
c.5142+4G= (n.5142+4G=)
n.336-147515G=
c.5130+4G= (n.5130+4G=)
c.4785+4G= (n.4785+4G=)
c.1131+4G= (n.1131+4G=)
c.5025+4G= (n.5025+4G=)
Xg.32364578C>GCA2738362532DMDc.5154+4G>C (n.5154+4G>C)
c.1122+4G>C (n.1122+4G>C)
c.5142+4G>C (n.5142+4G>C)
n.336-147515G>C
c.5130+4G>C (n.5130+4G>C)
c.4785+4G>C (n.4785+4G>C)
c.1131+4G>C (n.1131+4G>C)
c.5025+4G>C (n.5025+4G>C)
 dbSNP
Xg.32364578C>TCA10378764DMDc.5154+4G>A (n.5154+4G>A)
c.1122+4G>A (n.1122+4G>A)
c.5142+4G>A (n.5142+4G>A)
n.336-147515G>A
c.5130+4G>A (n.5130+4G>A)
c.4785+4G>A (n.4785+4G>A)
c.1131+4G>A (n.1131+4G>A)
c.5025+4G>A (n.5025+4G>A)
 dbSNP ExAC gnomAD v2
Xg.32364579T>CCA2693407106DMDc.5154+3A>G (n.5154+3A>G)
c.1122+3A>G (n.1122+3A>G)
c.5142+3A>G (n.5142+3A>G)
n.336-147516A>G
c.5130+3A>G (n.5130+3A>G)
c.4785+3A>G (n.4785+3A>G)
c.1131+3A>G (n.1131+3A>G)
c.5025+3A>G (n.5025+3A>G)
 gnomAD v4
Xg.32364580A=CA2422769886DMDc.5154+2T= (n.5154+2T=)
c.1122+2T= (n.1122+2T=)
c.5142+2T= (n.5142+2T=)
n.336-147517T=
c.5130+2T= (n.5130+2T=)
c.4785+2T= (n.4785+2T=)
c.1131+2T= (n.1131+2T=)
c.5025+2T= (n.5025+2T=)
Xg.32364580A>CCA412671403DMDc.5154+2T>G (n.5154+2T>G)
c.1122+2T>G (n.1122+2T>G)
c.5142+2T>G (n.5142+2T>G)
n.336-147517T>G
c.5130+2T>G (n.5130+2T>G)
c.4785+2T>G (n.4785+2T>G)
c.1131+2T>G (n.1131+2T>G)
c.5025+2T>G (n.5025+2T>G)
 dbSNP
Xg.32364580A>GCA412671404DMDc.5154+2T>C (n.5154+2T>C)
c.1122+2T>C (n.1122+2T>C)
c.5142+2T>C (n.5142+2T>C)
n.336-147517T>C
c.5130+2T>C (n.5130+2T>C)
c.4785+2T>C (n.4785+2T>C)
c.1131+2T>C (n.1131+2T>C)
c.5025+2T>C (n.5025+2T>C)
 ClinVar dbSNP
Xg.32364580A>TCA412671405DMDc.5154+2T>A (n.5154+2T>A)
c.1122+2T>A (n.1122+2T>A)
c.5142+2T>A (n.5142+2T>A)
n.336-147517T>A
c.5130+2T>A (n.5130+2T>A)
c.4785+2T>A (n.4785+2T>A)
c.1131+2T>A (n.1131+2T>A)
c.5025+2T>A (n.5025+2T>A)
Xg.32364581C>ACA412671406DMDc.5154+1G>T (n.5154+1G>T)
c.1122+1G>T (n.1122+1G>T)
c.5142+1G>T (n.5142+1G>T)
n.336-147518G>T
c.5130+1G>T (n.5130+1G>T)
c.4785+1G>T (n.4785+1G>T)
c.1131+1G>T (n.1131+1G>T)
c.5025+1G>T (n.5025+1G>T)
 dbSNP
Xg.32364581C>GCA412671407DMDc.5154+1G>C (n.5154+1G>C)
c.1122+1G>C (n.1122+1G>C)
c.5142+1G>C (n.5142+1G>C)
n.336-147518G>C
c.5130+1G>C (n.5130+1G>C)
c.4785+1G>C (n.4785+1G>C)
c.1131+1G>C (n.1131+1G>C)
c.5025+1G>C (n.5025+1G>C)
Xg.32364581C>TCA412671408DMDc.5154+1G>A (n.5154+1G>A)
c.1122+1G>A (n.1122+1G>A)
c.5142+1G>A (n.5142+1G>A)
n.336-147518G>A
c.5130+1G>A (n.5130+1G>A)
c.4785+1G>A (n.4785+1G>A)
c.1131+1G>A (n.1131+1G>A)
c.5025+1G>A (n.5025+1G>A)
 dbSNP
Xg.32364582C>ACA412671409DMDc.5154G>T (p.Lys1718Asn)
c.1122G>T (p.Lys374Asn)
c.5142G>T (p.Lys1714Asn)
n.336-147519G>T
c.5130G>T (p.Lys1710Asn)
c.4785G>T (p.Lys1595Asn)
c.1131G>T (p.Lys377Asn)
c.5025G>T (p.Lys1675Asn)
Xg.32364582C>GCA412671410DMDc.5154G>C (p.Lys1718Asn)
c.1122G>C (p.Lys374Asn)
c.5142G>C (p.Lys1714Asn)
n.336-147519G>C
c.5130G>C (p.Lys1710Asn)
c.4785G>C (p.Lys1595Asn)
c.1131G>C (p.Lys377Asn)
c.5025G>C (p.Lys1675Asn)
Xg.32364582C>TCA515714684DMDc.5154G>A (p.Lys1718=)
c.1122G>A (p.Lys374=)
c.5142G>A (p.Lys1714=)
n.336-147519G>A
c.5130G>A (p.Lys1710=)
c.4785G>A (p.Lys1595=)
c.1131G>A (p.Lys377=)
c.5025G>A (p.Lys1675=)
 dbSNP
Xg.32364583T>ACA412671411DMDc.5153A>T (p.Lys1718Met)
c.1121A>T (p.Lys374Met)
c.5141A>T (p.Lys1714Met)
n.336-147520A>T
c.5129A>T (p.Lys1710Met)
c.4784A>T (p.Lys1595Met)
c.1130A>T (p.Lys377Met)
c.5024A>T (p.Lys1675Met)
Xg.32364583T>CCA412671412DMDc.5153A>G (p.Lys1718Arg)
c.1121A>G (p.Lys374Arg)
c.5141A>G (p.Lys1714Arg)
n.336-147520A>G
c.5129A>G (p.Lys1710Arg)
c.4784A>G (p.Lys1595Arg)
c.1130A>G (p.Lys377Arg)
c.5024A>G (p.Lys1675Arg)
Xg.32364583T>GCA412671413DMDc.5153A>C (p.Lys1718Thr)
c.1121A>C (p.Lys374Thr)
c.5141A>C (p.Lys1714Thr)
n.336-147520A>C
c.5129A>C (p.Lys1710Thr)
c.4784A>C (p.Lys1595Thr)
c.1130A>C (p.Lys377Thr)
c.5024A>C (p.Lys1675Thr)
Xg.32364584T>ACA412671414DMDc.5152A>T (p.Lys1718Ter)
c.1120A>T (p.Lys374Ter)
c.5140A>T (p.Lys1714Ter)
n.336-147521A>T
c.5128A>T (p.Lys1710Ter)
c.4783A>T (p.Lys1595Ter)
c.1129A>T (p.Lys377Ter)
c.5023A>T (p.Lys1675Ter)
Xg.32364584T>CCA412671415DMDc.5152A>G (p.Lys1718Glu)
c.1120A>G (p.Lys374Glu)
c.5140A>G (p.Lys1714Glu)
n.336-147521A>G
c.5128A>G (p.Lys1710Glu)
c.4783A>G (p.Lys1595Glu)
c.1129A>G (p.Lys377Glu)
c.5023A>G (p.Lys1675Glu)
Xg.32364584T>GCA412671416DMDc.5152A>C (p.Lys1718Gln)
c.1120A>C (p.Lys374Gln)
c.5140A>C (p.Lys1714Gln)
n.336-147521A>C
c.5128A>C (p.Lys1710Gln)
c.4783A>C (p.Lys1595Gln)
c.1129A>C (p.Lys377Gln)
c.5023A>C (p.Lys1675Gln)
Xg.32364585A>CCA515714685DMDc.5151T>G (p.Leu1717=)
c.1119T>G (p.Leu373=)
c.5139T>G (p.Leu1713=)
n.336-147522T>G
c.5127T>G (p.Leu1709=)
c.4782T>G (p.Leu1594=)
c.1128T>G (p.Leu376=)
c.5022T>G (p.Leu1674=)
Xg.32364585A>GCA515714687DMDc.5151T>C (p.Leu1717=)
c.1119T>C (p.Leu373=)
c.5139T>C (p.Leu1713=)
n.336-147522T>C
c.5127T>C (p.Leu1709=)
c.4782T>C (p.Leu1594=)
c.1128T>C (p.Leu376=)
c.5022T>C (p.Leu1674=)
Xg.32364585A>TCA515714686DMDc.5151T>A (p.Leu1717=)
c.1119T>A (p.Leu373=)
c.5139T>A (p.Leu1713=)
n.336-147522T>A
c.5127T>A (p.Leu1709=)
c.4782T>A (p.Leu1594=)
c.1128T>A (p.Leu376=)
c.5022T>A (p.Leu1674=)
Xg.32364586delCA2695234087DMDc.5151del (p.Lys1718SerfsTer3)
c.1119del (p.Lys374SerfsTer3)
c.5139del (p.Lys1714SerfsTer3)
n.336-147522del
c.5127del (p.Lys1710SerfsTer3)
c.4782del (p.Lys1595SerfsTer3)
c.1128del (p.Lys377SerfsTer3)
c.5022del (p.Lys1675SerfsTer3)
Xg.32364586A>CCA412671417DMDc.5150T>G (p.Leu1717Arg)
c.1118T>G (p.Leu373Arg)
c.5138T>G (p.Leu1713Arg)
n.336-147523T>G
c.5126T>G (p.Leu1709Arg)
c.4781T>G (p.Leu1594Arg)
c.1127T>G (p.Leu376Arg)
c.5021T>G (p.Leu1674Arg)
Xg.32364586A>GCA412671419DMDc.5150T>C (p.Leu1717Pro)
c.1118T>C (p.Leu373Pro)
c.5138T>C (p.Leu1713Pro)
n.336-147523T>C
c.5126T>C (p.Leu1709Pro)
c.4781T>C (p.Leu1594Pro)
c.1127T>C (p.Leu376Pro)
c.5021T>C (p.Leu1674Pro)
Xg.32364586A>TCA412671418DMDc.5150T>A (p.Leu1717His)
c.1118T>A (p.Leu373His)
c.5138T>A (p.Leu1713His)
n.336-147523T>A
c.5126T>A (p.Leu1709His)
c.4781T>A (p.Leu1594His)
c.1127T>A (p.Leu376His)
c.5021T>A (p.Leu1674His)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364587G>ACA10378765DMDc.5149C>T (p.Leu1717Phe)
c.1117C>T (p.Leu373Phe)
c.5137C>T (p.Leu1713Phe)
n.336-147524C>T
c.5125C>T (p.Leu1709Phe)
c.4780C>T (p.Leu1594Phe)
c.1126C>T (p.Leu376Phe)
c.5020C>T (p.Leu1674Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32364587G>CCA412671420DMDc.5149C>G (p.Leu1717Val)
c.1117C>G (p.Leu373Val)
c.5137C>G (p.Leu1713Val)
n.336-147524C>G
c.5125C>G (p.Leu1709Val)
c.4780C>G (p.Leu1594Val)
c.1126C>G (p.Leu376Val)
c.5020C>G (p.Leu1674Val)
Xg.32364587G=CA2422769887DMDc.5149C= (p.Leu1717=)
c.1117C= (p.Leu373=)
c.5137C= (p.Leu1713=)
n.336-147524C=
c.5125C= (p.Leu1709=)
c.4780C= (p.Leu1594=)
c.1126C= (p.Leu376=)
c.5020C= (p.Leu1674=)
Xg.32364587G>TCA412671421DMDc.5149C>A (p.Leu1717Ile)
c.1117C>A (p.Leu373Ile)
c.5137C>A (p.Leu1713Ile)
n.336-147524C>A
c.5125C>A (p.Leu1709Ile)
c.4780C>A (p.Leu1594Ile)
c.1126C>A (p.Leu376Ile)
c.5020C>A (p.Leu1674Ile)
 ClinVar dbSNP
Xg.32364588C>ACA515714688DMDc.5148G>T (p.Val1716=)
c.1116G>T (p.Val372=)
c.5136G>T (p.Val1712=)
n.336-147525G>T
c.5124G>T (p.Val1708=)
c.4779G>T (p.Val1593=)
c.1125G>T (p.Val375=)
c.5019G>T (p.Val1673=)
Xg.32364588C=CA2422769888DMDc.5148G= (p.Val1716=)
c.1116G= (p.Val372=)
c.5136G= (p.Val1712=)
n.336-147525G=
c.5124G= (p.Val1708=)
c.4779G= (p.Val1593=)
c.1125G= (p.Val375=)
c.5019G= (p.Val1673=)
Xg.32364588C>GCA515714689DMDc.5148G>C (p.Val1716=)
c.1116G>C (p.Val372=)
c.5136G>C (p.Val1712=)
n.336-147525G>C
c.5124G>C (p.Val1708=)
c.4779G>C (p.Val1593=)
c.1125G>C (p.Val375=)
c.5019G>C (p.Val1673=)
Xg.32364588C>TCA10378766DMDc.5148G>A (p.Val1716=)
c.1116G>A (p.Val372=)
c.5136G>A (p.Val1712=)
n.336-147525G>A
c.5124G>A (p.Val1708=)
c.4779G>A (p.Val1593=)
c.1125G>A (p.Val375=)
c.5019G>A (p.Val1673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364589A>CCA412671422DMDc.5147T>G (p.Val1716Gly)
c.1115T>G (p.Val372Gly)
c.5135T>G (p.Val1712Gly)
n.336-147526T>G
c.5123T>G (p.Val1708Gly)
c.4778T>G (p.Val1593Gly)
c.1124T>G (p.Val375Gly)
c.5018T>G (p.Val1673Gly)
 gnomAD v4
Xg.32364589A>GCA412671423DMDc.5147T>C (p.Val1716Ala)
c.1115T>C (p.Val372Ala)
c.5135T>C (p.Val1712Ala)
n.336-147526T>C
c.5123T>C (p.Val1708Ala)
c.4778T>C (p.Val1593Ala)
c.1124T>C (p.Val375Ala)
c.5018T>C (p.Val1673Ala)
Xg.32364589A>TCA412671424DMDc.5147T>A (p.Val1716Glu)
c.1115T>A (p.Val372Glu)
c.5135T>A (p.Val1712Glu)
n.336-147526T>A
c.5123T>A (p.Val1708Glu)
c.4778T>A (p.Val1593Glu)
c.1124T>A (p.Val375Glu)
c.5018T>A (p.Val1673Glu)
Xg.32364590C>ACA412671425DMDc.5146G>T (p.Val1716Leu)
c.1114G>T (p.Val372Leu)
c.5134G>T (p.Val1712Leu)
n.336-147527G>T
c.5122G>T (p.Val1708Leu)
c.4777G>T (p.Val1593Leu)
c.1123G>T (p.Val375Leu)
c.5017G>T (p.Val1673Leu)
Xg.32364590C=CA2422769889DMDc.5146G= (p.Val1716=)
c.1114G= (p.Val372=)
c.5134G= (p.Val1712=)
n.336-147527G=
c.5122G= (p.Val1708=)
c.4777G= (p.Val1593=)
c.1123G= (p.Val375=)
c.5017G= (p.Val1673=)
Xg.32364590C>GCA412671426DMDc.5146G>C (p.Val1716Leu)
c.1114G>C (p.Val372Leu)
c.5134G>C (p.Val1712Leu)
n.336-147527G>C
c.5122G>C (p.Val1708Leu)
c.4777G>C (p.Val1593Leu)
c.1123G>C (p.Val375Leu)
c.5017G>C (p.Val1673Leu)
Xg.32364590C>TCA10378767DMDc.5146G>A (p.Val1716Met)
c.1114G>A (p.Val372Met)
c.5134G>A (p.Val1712Met)
n.336-147527G>A
c.5122G>A (p.Val1708Met)
c.4777G>A (p.Val1593Met)
c.1123G>A (p.Val375Met)
c.5017G>A (p.Val1673Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32364591G>ACA515714690DMDc.5145C>T (p.Asp1715=)
c.1113C>T (p.Asp371=)
c.5133C>T (p.Asp1711=)
n.336-147528C>T
c.5121C>T (p.Asp1707=)
c.4776C>T (p.Asp1592=)
c.1122C>T (p.Asp374=)
c.5016C>T (p.Asp1672=)
 ClinVar dbSNP gnomAD v4
Xg.32364591G>CCA412671427DMDc.5145C>G (p.Asp1715Glu)
c.1113C>G (p.Asp371Glu)
c.5133C>G (p.Asp1711Glu)
n.336-147528C>G
c.5121C>G (p.Asp1707Glu)
c.4776C>G (p.Asp1592Glu)
c.1122C>G (p.Asp374Glu)
c.5016C>G (p.Asp1672Glu)
Xg.32364591G=CA2422769890DMDc.5145C= (p.Asp1715=)
c.1113C= (p.Asp371=)
c.5133C= (p.Asp1711=)
n.336-147528C=
c.5121C= (p.Asp1707=)
c.4776C= (p.Asp1592=)
c.1122C= (p.Asp374=)
c.5016C= (p.Asp1672=)
Xg.32364591G>TCA412671428DMDc.5145C>A (p.Asp1715Glu)
c.1113C>A (p.Asp371Glu)
c.5133C>A (p.Asp1711Glu)
n.336-147528C>A
c.5121C>A (p.Asp1707Glu)
c.4776C>A (p.Asp1592Glu)
c.1122C>A (p.Asp374Glu)
c.5016C>A (p.Asp1672Glu)
Xg.32364591_32364594delinsGTCTCA2422769891DMDc.5142_5145delinsAGAC (p.Glu1714=)
c.1110_1113delinsAGAC (p.Glu370=)
c.5130_5133delinsAGAC (p.Glu1710=)
n.336-147531_336-147528delinsAGAC
c.5118_5121delinsAGAC (p.Glu1706=)
c.4773_4776delinsAGAC (p.Glu1591=)
c.1119_1122delinsAGAC (p.Glu373=)
c.5013_5016delinsAGAC (p.Glu1671=)
Xg.32364592T>ACA412671430DMDc.5144A>T (p.Asp1715Val)
c.1112A>T (p.Asp371Val)
c.5132A>T (p.Asp1711Val)
n.336-147529A>T
c.5120A>T (p.Asp1707Val)
c.4775A>T (p.Asp1592Val)
c.1121A>T (p.Asp374Val)
c.5015A>T (p.Asp1672Val)
Xg.32364592T>CCA10378768DMDc.5144A>G (p.Asp1715Gly)
c.1112A>G (p.Asp371Gly)
c.5132A>G (p.Asp1711Gly)
n.336-147529A>G
c.5120A>G (p.Asp1707Gly)
c.4775A>G (p.Asp1592Gly)
c.1121A>G (p.Asp374Gly)
c.5015A>G (p.Asp1672Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364592T>GCA412671429DMDc.5144A>C (p.Asp1715Ala)
c.1112A>C (p.Asp371Ala)
c.5132A>C (p.Asp1711Ala)
n.336-147529A>C
c.5120A>C (p.Asp1707Ala)
c.4775A>C (p.Asp1592Ala)
c.1121A>C (p.Asp374Ala)
c.5015A>C (p.Asp1672Ala)
Xg.32364592T=CA2422769893DMDc.5144A= (p.Asp1715=)
c.1112A= (p.Asp371=)
c.5132A= (p.Asp1711=)
n.336-147529A=
c.5120A= (p.Asp1707=)
c.4775A= (p.Asp1592=)
c.1121A= (p.Asp374=)
c.5015A= (p.Asp1672=)
Xg.32364596_32364598delCA2422769892DMDc.5142_5144del (p.Glu1714del)
c.1110_1112del (p.Glu370del)
c.5130_5132del (p.Glu1710del)
n.336-147531_336-147529del
c.5118_5120del (p.Glu1706del)
c.4773_4775del (p.Glu1591del)
c.1119_1121del (p.Glu373del)
c.5013_5015del (p.Glu1671del)
 ClinVar dbSNP
Xg.32364593C>ACA412671431DMDc.5143G>T (p.Asp1715Tyr)
c.1111G>T (p.Asp371Tyr)
c.5131G>T (p.Asp1711Tyr)
n.336-147530G>T
c.5119G>T (p.Asp1707Tyr)
c.4774G>T (p.Asp1592Tyr)
c.1120G>T (p.Asp374Tyr)
c.5014G>T (p.Asp1672Tyr)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364593C>GCA412671432DMDc.5143G>C (p.Asp1715His)
c.1111G>C (p.Asp371His)
c.5131G>C (p.Asp1711His)
n.336-147530G>C
c.5119G>C (p.Asp1707His)
c.4774G>C (p.Asp1592His)
c.1120G>C (p.Asp374His)
c.5014G>C (p.Asp1672His)
Xg.32364593C>TCA412671433DMDc.5143G>A (p.Asp1715Asn)
c.1111G>A (p.Asp371Asn)
c.5131G>A (p.Asp1711Asn)
n.336-147530G>A
c.5119G>A (p.Asp1707Asn)
c.4774G>A (p.Asp1592Asn)
c.1120G>A (p.Asp374Asn)
c.5014G>A (p.Asp1672Asn)
Xg.32364594T>ACA412671434DMDc.5142A>T (p.Glu1714Asp)
c.1110A>T (p.Glu370Asp)
c.5130A>T (p.Glu1710Asp)
n.336-147531A>T
c.5118A>T (p.Glu1706Asp)
c.4773A>T (p.Glu1591Asp)
c.1119A>T (p.Glu373Asp)
c.5013A>T (p.Glu1671Asp)
Xg.32364594T>CCA515714691DMDc.5142A>G (p.Glu1714=)
c.1110A>G (p.Glu370=)
c.5130A>G (p.Glu1710=)
n.336-147531A>G
c.5118A>G (p.Glu1706=)
c.4773A>G (p.Glu1591=)
c.1119A>G (p.Glu373=)
c.5013A>G (p.Glu1671=)
Xg.32364594T>GCA412671435DMDc.5142A>C (p.Glu1714Asp)
c.1110A>C (p.Glu370Asp)
c.5130A>C (p.Glu1710Asp)
n.336-147531A>C
c.5118A>C (p.Glu1706Asp)
c.4773A>C (p.Glu1591Asp)
c.1119A>C (p.Glu373Asp)
c.5013A>C (p.Glu1671Asp)
Xg.32364595T>ACA412671436DMDc.5141A>T (p.Glu1714Val)
c.1109A>T (p.Glu370Val)
c.5129A>T (p.Glu1710Val)
n.336-147532A>T
c.5117A>T (p.Glu1706Val)
c.4772A>T (p.Glu1591Val)
c.1118A>T (p.Glu373Val)
c.5012A>T (p.Glu1671Val)
Xg.32364595T>CCA412671437DMDc.5141A>G (p.Glu1714Gly)
c.1109A>G (p.Glu370Gly)
c.5129A>G (p.Glu1710Gly)
n.336-147532A>G
c.5117A>G (p.Glu1706Gly)
c.4772A>G (p.Glu1591Gly)
c.1118A>G (p.Glu373Gly)
c.5012A>G (p.Glu1671Gly)
Xg.32364595T>GCA412671438DMDc.5141A>C (p.Glu1714Ala)
c.1109A>C (p.Glu370Ala)
c.5129A>C (p.Glu1710Ala)
n.336-147532A>C
c.5117A>C (p.Glu1706Ala)
c.4772A>C (p.Glu1591Ala)
c.1118A>C (p.Glu373Ala)
c.5012A>C (p.Glu1671Ala)
Xg.32364596_32364597delCA2695234088DMDc.5140_5141del (p.Glu1714ArgfsTer4)
c.1108_1109del (p.Glu370ArgfsTer4)
c.5128_5129del (p.Glu1710ArgfsTer4)
n.336-147533_336-147532del
c.5116_5117del (p.Glu1706ArgfsTer4)
c.4771_4772del (p.Glu1591ArgfsTer4)
c.1117_1118del (p.Glu373ArgfsTer4)
c.5011_5012del (p.Glu1671ArgfsTer4)
Xg.32364596delCA2695234089DMDc.5140del (p.Glu1714LysfsTer7)
c.1108del (p.Glu370LysfsTer7)
c.5128del (p.Glu1710LysfsTer7)
n.336-147533del
c.5116del (p.Glu1706LysfsTer7)
c.4771del (p.Glu1591LysfsTer7)
c.1117del (p.Glu373LysfsTer7)
c.5011del (p.Glu1671LysfsTer7)
Xg.32364596C>ACA10604634DMDc.5140G>T (p.Glu1714Ter)
c.1108G>T (p.Glu370Ter)
c.5128G>T (p.Glu1710Ter)
n.336-147533G>T
c.5116G>T (p.Glu1706Ter)
c.4771G>T (p.Glu1591Ter)
c.1117G>T (p.Glu373Ter)
c.5011G>T (p.Glu1671Ter)
 ClinVar dbSNP
Xg.32364596C=CA2422769894DMDc.5140G= (p.Glu1714=)
c.1108G= (p.Glu370=)
c.5128G= (p.Glu1710=)
n.336-147533G=
c.5116G= (p.Glu1706=)
c.4771G= (p.Glu1591=)
c.1117G= (p.Glu373=)
c.5011G= (p.Glu1671=)
Xg.32364596C>GCA412671439DMDc.5140G>C (p.Glu1714Gln)
c.1108G>C (p.Glu370Gln)
c.5128G>C (p.Glu1710Gln)
n.336-147533G>C
c.5116G>C (p.Glu1706Gln)
c.4771G>C (p.Glu1591Gln)
c.1117G>C (p.Glu373Gln)
c.5011G>C (p.Glu1671Gln)
 gnomAD v4
Xg.32364596C>TCA412671440DMDc.5140G>A (p.Glu1714Lys)
c.1108G>A (p.Glu370Lys)
c.5128G>A (p.Glu1710Lys)
n.336-147533G>A
c.5116G>A (p.Glu1706Lys)
c.4771G>A (p.Glu1591Lys)
c.1117G>A (p.Glu373Lys)
c.5011G>A (p.Glu1671Lys)
Xg.32364596_32364597delinsACA2695234090DMDc.5139_5140delinsT (p.Lys1713AsnfsTer8)
c.1107_1108delinsT (p.Lys369AsnfsTer8)
c.5127_5128delinsT (p.Lys1709AsnfsTer8)
n.336-147534_336-147533delinsT
c.5115_5116delinsT (p.Lys1705AsnfsTer8)
c.4770_4771delinsT (p.Lys1590AsnfsTer8)
c.1116_1117delinsT (p.Lys372AsnfsTer8)
c.5010_5011delinsT (p.Lys1670AsnfsTer8)
Xg.32364596_32364597delinsCTCA2422769895DMDc.5139_5140delinsAG (p.Lys1713=)
c.1107_1108delinsAG (p.Lys369=)
c.5127_5128delinsAG (p.Lys1709=)
n.336-147534_336-147533delinsAG
c.5115_5116delinsAG (p.Lys1705=)
c.4770_4771delinsAG (p.Lys1590=)
c.1116_1117delinsAG (p.Lys372=)
c.5010_5011delinsAG (p.Lys1670=)
Xg.32364597T>ACA412671441DMDc.5139A>T (p.Lys1713Asn)
c.1107A>T (p.Lys369Asn)
c.5127A>T (p.Lys1709Asn)
n.336-147534A>T
c.5115A>T (p.Lys1705Asn)
c.4770A>T (p.Lys1590Asn)
c.1116A>T (p.Lys372Asn)
c.5010A>T (p.Lys1670Asn)
Xg.32364597T>CCA10378770DMDc.5139A>G (p.Lys1713=)
c.1107A>G (p.Lys369=)
c.5127A>G (p.Lys1709=)
n.336-147534A>G
c.5115A>G (p.Lys1705=)
c.4770A>G (p.Lys1590=)
c.1116A>G (p.Lys372=)
c.5010A>G (p.Lys1670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364597T>GCA10378769DMDc.5139A>C (p.Lys1713Asn)
c.1107A>C (p.Lys369Asn)
c.5127A>C (p.Lys1709Asn)
n.336-147534A>C
c.5115A>C (p.Lys1705Asn)
c.4770A>C (p.Lys1590Asn)
c.1116A>C (p.Lys372Asn)
c.5010A>C (p.Lys1670Asn)
 dbSNP ExAC gnomAD v2
Xg.32364597T=CA2422769896DMDc.5139A= (p.Lys1713=)
c.1107A= (p.Lys369=)
c.5127A= (p.Lys1709=)
n.336-147534A=
c.5115A= (p.Lys1705=)
c.4770A= (p.Lys1590=)
c.1116A= (p.Lys372=)
c.5010A= (p.Lys1670=)
Xg.32364601dupCA2695234091DMDc.5139dup (p.Glu1714ArgfsTer5)
c.1107dup (p.Glu370ArgfsTer5)
c.5127dup (p.Glu1710ArgfsTer5)
n.336-147534dup
c.5115dup (p.Glu1706ArgfsTer5)
c.4770dup (p.Glu1591ArgfsTer5)
c.1116dup (p.Glu373ArgfsTer5)
c.5010dup (p.Glu1671ArgfsTer5)
Xg.32364601delCA658799691DMDc.5139del (p.Glu1714LysfsTer7)
c.1107del (p.Glu370LysfsTer7)
c.5127del (p.Glu1710LysfsTer7)
n.336-147534del
c.5115del (p.Glu1706LysfsTer7)
c.4770del (p.Glu1591LysfsTer7)
c.1116del (p.Glu373LysfsTer7)
c.5010del (p.Glu1671LysfsTer7)
 ClinVar dbSNP
Xg.32364598T>ACA412671442DMDc.5138A>T (p.Lys1713Ile)
c.1106A>T (p.Lys369Ile)
c.5126A>T (p.Lys1709Ile)
n.336-147535A>T
c.5114A>T (p.Lys1705Ile)
c.4769A>T (p.Lys1590Ile)
c.1115A>T (p.Lys372Ile)
c.5009A>T (p.Lys1670Ile)
Xg.32364598T>CCA412671444DMDc.5138A>G (p.Lys1713Arg)
c.1106A>G (p.Lys369Arg)
c.5126A>G (p.Lys1709Arg)
n.336-147535A>G
c.5114A>G (p.Lys1705Arg)
c.4769A>G (p.Lys1590Arg)
c.1115A>G (p.Lys372Arg)
c.5009A>G (p.Lys1670Arg)
Xg.32364598T>GCA412671443DMDc.5138A>C (p.Lys1713Thr)
c.1106A>C (p.Lys369Thr)
c.5126A>C (p.Lys1709Thr)
n.336-147535A>C
c.5114A>C (p.Lys1705Thr)
c.4769A>C (p.Lys1590Thr)
c.1115A>C (p.Lys372Thr)
c.5009A>C (p.Lys1670Thr)
Xg.32364599T>ACA412671445DMDc.5137A>T (p.Lys1713Ter)
c.1105A>T (p.Lys369Ter)
c.5125A>T (p.Lys1709Ter)
n.336-147536A>T
c.5113A>T (p.Lys1705Ter)
c.4768A>T (p.Lys1590Ter)
c.1114A>T (p.Lys372Ter)
c.5008A>T (p.Lys1670Ter)
Xg.32364599T>CCA412671446DMDc.5137A>G (p.Lys1713Glu)
c.1105A>G (p.Lys369Glu)
c.5125A>G (p.Lys1709Glu)
n.336-147536A>G
c.5113A>G (p.Lys1705Glu)
c.4768A>G (p.Lys1590Glu)
c.1114A>G (p.Lys372Glu)
c.5008A>G (p.Lys1670Glu)
 gnomAD v4
Xg.32364599T>GCA412671447DMDc.5137A>C (p.Lys1713Gln)
c.1105A>C (p.Lys369Gln)
c.5125A>C (p.Lys1709Gln)
n.336-147536A>C
c.5113A>C (p.Lys1705Gln)
c.4768A>C (p.Lys1590Gln)
c.1114A>C (p.Lys372Gln)
c.5008A>C (p.Lys1670Gln)
Xg.32364600T>ACA412671448DMDc.5136A>T (p.Gln1712His)
c.1104A>T (p.Gln368His)
c.5124A>T (p.Gln1708His)
n.336-147537A>T
c.5112A>T (p.Gln1704His)
c.4767A>T (p.Gln1589His)
c.1113A>T (p.Gln371His)
c.5007A>T (p.Gln1669His)
Xg.32364600T>CCA515714692DMDc.5136A>G (p.Gln1712=)
c.1104A>G (p.Gln368=)
c.5124A>G (p.Gln1708=)
n.336-147537A>G
c.5112A>G (p.Gln1704=)
c.4767A>G (p.Gln1589=)
c.1113A>G (p.Gln371=)
c.5007A>G (p.Gln1669=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364600T>GCA412671449DMDc.5136A>C (p.Gln1712His)
c.1104A>C (p.Gln368His)
c.5124A>C (p.Gln1708His)
n.336-147537A>C
c.5112A>C (p.Gln1704His)
c.4767A>C (p.Gln1589His)
c.1113A>C (p.Gln371His)
c.5007A>C (p.Gln1669His)
Xg.32364601T>ACA412671450DMDc.5135A>T (p.Gln1712Leu)
c.1103A>T (p.Gln368Leu)
c.5123A>T (p.Gln1708Leu)
n.336-147538A>T
c.5111A>T (p.Gln1704Leu)
c.4766A>T (p.Gln1589Leu)
c.1112A>T (p.Gln371Leu)
c.5006A>T (p.Gln1669Leu)
 dbSNP
Xg.32364601T>CCA412671451DMDc.5135A>G (p.Gln1712Arg)
c.1103A>G (p.Gln368Arg)
c.5123A>G (p.Gln1708Arg)
n.336-147538A>G
c.5111A>G (p.Gln1704Arg)
c.4766A>G (p.Gln1589Arg)
c.1112A>G (p.Gln371Arg)
c.5006A>G (p.Gln1669Arg)
 COSMIC COSMIC COSMIC
Xg.32364601T>GCA412671452DMDc.5135A>C (p.Gln1712Pro)
c.1103A>C (p.Gln368Pro)
c.5123A>C (p.Gln1708Pro)
n.336-147538A>C
c.5111A>C (p.Gln1704Pro)
c.4766A>C (p.Gln1589Pro)
c.1112A>C (p.Gln371Pro)
c.5006A>C (p.Gln1669Pro)
Xg.32364601T=CA2422769897DMDc.5135A= (p.Gln1712=)
c.1103A= (p.Gln368=)
c.5123A= (p.Gln1708=)
n.336-147538A=
c.5111A= (p.Gln1704=)
c.4766A= (p.Gln1589=)
c.1112A= (p.Gln371=)
c.5006A= (p.Gln1669=)
Xg.32364602G>ACA267052DMDc.5134C>T (p.Gln1712Ter)
c.1102C>T (p.Gln368Ter)
c.5122C>T (p.Gln1708Ter)
n.336-147539C>T
c.5110C>T (p.Gln1704Ter)
c.4765C>T (p.Gln1589Ter)
c.1111C>T (p.Gln371Ter)
c.5005C>T (p.Gln1669Ter)
 ClinVar dbSNP
Xg.32364602G>CCA412671453DMDc.5134C>G (p.Gln1712Glu)
c.1102C>G (p.Gln368Glu)
c.5122C>G (p.Gln1708Glu)
n.336-147539C>G
c.5110C>G (p.Gln1704Glu)
c.4765C>G (p.Gln1589Glu)
c.1111C>G (p.Gln371Glu)
c.5005C>G (p.Gln1669Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32364602G=CA2422769898DMDc.5134C= (p.Gln1712=)
c.1102C= (p.Gln368=)
c.5122C= (p.Gln1708=)
n.336-147539C=
c.5110C= (p.Gln1704=)
c.4765C= (p.Gln1589=)
c.1111C= (p.Gln371=)
c.5005C= (p.Gln1669=)
Xg.32364602G>TCA412671454DMDc.5134C>A (p.Gln1712Lys)
c.1102C>A (p.Gln368Lys)
c.5122C>A (p.Gln1708Lys)
n.336-147539C>A
c.5110C>A (p.Gln1704Lys)
c.4765C>A (p.Gln1589Lys)
c.1111C>A (p.Gln371Lys)
c.5005C>A (p.Gln1669Lys)
Xg.32364603C>ACA412671456DMDc.5133G>T (p.Gln1711His)
c.1101G>T (p.Gln367His)
c.5121G>T (p.Gln1707His)
n.336-147540G>T
c.5109G>T (p.Gln1703His)
c.4764G>T (p.Gln1588His)
c.1110G>T (p.Gln370His)
c.5004G>T (p.Gln1668His)
Xg.32364603C=CA2422769899DMDc.5133G= (p.Gln1711=)
c.1101G= (p.Gln367=)
c.5121G= (p.Gln1707=)
n.336-147540G=
c.5109G= (p.Gln1703=)
c.4764G= (p.Gln1588=)
c.1110G= (p.Gln370=)
c.5004G= (p.Gln1668=)
Xg.32364603C>GCA412671455DMDc.5133G>C (p.Gln1711His)
c.1101G>C (p.Gln367His)
c.5121G>C (p.Gln1707His)
n.336-147540G>C
c.5109G>C (p.Gln1703His)
c.4764G>C (p.Gln1588His)
c.1110G>C (p.Gln370His)
c.5004G>C (p.Gln1668His)
 ClinVar dbSNP
Xg.32364603C>TCA10378771DMDc.5133G>A (p.Gln1711=)
c.1101G>A (p.Gln367=)
c.5121G>A (p.Gln1707=)
n.336-147540G>A
c.5109G>A (p.Gln1703=)
c.4764G>A (p.Gln1588=)
c.1110G>A (p.Gln370=)
c.5004G>A (p.Gln1668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364604T>ACA412671457DMDc.5132A>T (p.Gln1711Leu)
c.1100A>T (p.Gln367Leu)
c.5120A>T (p.Gln1707Leu)
n.336-147541A>T
c.5108A>T (p.Gln1703Leu)
c.4763A>T (p.Gln1588Leu)
c.1109A>T (p.Gln370Leu)
c.5003A>T (p.Gln1668Leu)
Xg.32364604T>CCA412671458DMDc.5132A>G (p.Gln1711Arg)
c.1100A>G (p.Gln367Arg)
c.5120A>G (p.Gln1707Arg)
n.336-147541A>G
c.5108A>G (p.Gln1703Arg)
c.4763A>G (p.Gln1588Arg)
c.1109A>G (p.Gln370Arg)
c.5003A>G (p.Gln1668Arg)
Xg.32364604T>GCA412671459DMDc.5132A>C (p.Gln1711Pro)
c.1100A>C (p.Gln367Pro)
c.5120A>C (p.Gln1707Pro)
n.336-147541A>C
c.5108A>C (p.Gln1703Pro)
c.4763A>C (p.Gln1588Pro)
c.1109A>C (p.Gln370Pro)
c.5003A>C (p.Gln1668Pro)
Xg.32364605G>ACA347522DMDc.5131C>T (p.Gln1711Ter)
c.1099C>T (p.Gln367Ter)
c.5119C>T (p.Gln1707Ter)
n.336-147542C>T
c.5107C>T (p.Gln1703Ter)
c.4762C>T (p.Gln1588Ter)
c.1108C>T (p.Gln370Ter)
c.5002C>T (p.Gln1668Ter)
 ClinVar dbSNP
Xg.32364605G>CCA412671460DMDc.5131C>G (p.Gln1711Glu)
c.1099C>G (p.Gln367Glu)
c.5119C>G (p.Gln1707Glu)
n.336-147542C>G
c.5107C>G (p.Gln1703Glu)
c.4762C>G (p.Gln1588Glu)
c.1108C>G (p.Gln370Glu)
c.5002C>G (p.Gln1668Glu)
 gnomAD v4
Xg.32364605G=CA2422769900DMDc.5131C= (p.Gln1711=)
c.1099C= (p.Gln367=)
c.5119C= (p.Gln1707=)
n.336-147542C=
c.5107C= (p.Gln1703=)
c.4762C= (p.Gln1588=)
c.1108C= (p.Gln370=)
c.5002C= (p.Gln1668=)
Xg.32364605G>TCA412671461DMDc.5131C>A (p.Gln1711Lys)
c.1099C>A (p.Gln367Lys)
c.5119C>A (p.Gln1707Lys)
n.336-147542C>A
c.5107C>A (p.Gln1703Lys)
c.4762C>A (p.Gln1588Lys)
c.1108C>A (p.Gln370Lys)
c.5002C>A (p.Gln1668Lys)
Xg.32364608delCA2573158563DMDc.5131del (p.Gln1711SerfsTer10)
c.1099del (p.Gln367SerfsTer10)
c.5119del (p.Gln1707SerfsTer10)
n.336-147542del
c.5107del (p.Gln1703SerfsTer10)
c.4762del (p.Gln1588SerfsTer10)
c.1108del (p.Gln370SerfsTer10)
c.5002del (p.Gln1668SerfsTer10)
 ClinVar dbSNP
Xg.32364606G>ACA515714695DMDc.5130C>T (p.Pro1710=)
c.1098C>T (p.Pro366=)
c.5118C>T (p.Pro1706=)
n.336-147543C>T
c.5106C>T (p.Pro1702=)
c.4761C>T (p.Pro1587=)
c.1107C>T (p.Pro369=)
c.5001C>T (p.Pro1667=)
Xg.32364606G>CCA515714694DMDc.5130C>G (p.Pro1710=)
c.1098C>G (p.Pro366=)
c.5118C>G (p.Pro1706=)
n.336-147543C>G
c.5106C>G (p.Pro1702=)
c.4761C>G (p.Pro1587=)
c.1107C>G (p.Pro369=)
c.5001C>G (p.Pro1667=)
 dbSNP gnomAD v2 gnomAD v4
Xg.32364606G=CA2422769901DMDc.5130C= (p.Pro1710=)
c.1098C= (p.Pro366=)
c.5118C= (p.Pro1706=)
n.336-147543C=
c.5106C= (p.Pro1702=)
c.4761C= (p.Pro1587=)
c.1107C= (p.Pro369=)
c.5001C= (p.Pro1667=)
Xg.32364606G>TCA515714693DMDc.5130C>A (p.Pro1710=)
c.1098C>A (p.Pro366=)
c.5118C>A (p.Pro1706=)
n.336-147543C>A
c.5106C>A (p.Pro1702=)
c.4761C>A (p.Pro1587=)
c.1107C>A (p.Pro369=)
c.5001C>A (p.Pro1667=)
 dbSNP gnomAD v4
Xg.32364607G>ACA327995177DMDc.5129C>T (p.Pro1710Leu)
c.1097C>T (p.Pro366Leu)
c.5117C>T (p.Pro1706Leu)
n.336-147544C>T
c.5105C>T (p.Pro1702Leu)
c.4760C>T (p.Pro1587Leu)
c.1106C>T (p.Pro369Leu)
c.5000C>T (p.Pro1667Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32364607G>CCA412671462DMDc.5129C>G (p.Pro1710Arg)
c.1097C>G (p.Pro366Arg)
c.5117C>G (p.Pro1706Arg)
n.336-147544C>G
c.5105C>G (p.Pro1702Arg)
c.4760C>G (p.Pro1587Arg)
c.1106C>G (p.Pro369Arg)
c.5000C>G (p.Pro1667Arg)
Xg.32364607G=CA2422769902DMDc.5129C= (p.Pro1710=)
c.1097C= (p.Pro366=)
c.5117C= (p.Pro1706=)
n.336-147544C=
c.5105C= (p.Pro1702=)
c.4760C= (p.Pro1587=)
c.1106C= (p.Pro369=)
c.5000C= (p.Pro1667=)
Xg.32364607G>TCA412671463DMDc.5129C>A (p.Pro1710His)
c.1097C>A (p.Pro366His)
c.5117C>A (p.Pro1706His)
n.336-147544C>A
c.5105C>A (p.Pro1702His)
c.4760C>A (p.Pro1587His)
c.1106C>A (p.Pro369His)
c.5000C>A (p.Pro1667His)
Xg.32364608G>ACA412671464DMDc.5128C>T (p.Pro1710Ser)
c.1096C>T (p.Pro366Ser)
c.5116C>T (p.Pro1706Ser)
n.336-147545C>T
c.5104C>T (p.Pro1702Ser)
c.4759C>T (p.Pro1587Ser)
c.1105C>T (p.Pro369Ser)
c.4999C>T (p.Pro1667Ser)
 gnomAD v4
Xg.32364608G>CCA412671465DMDc.5128C>G (p.Pro1710Ala)
c.1096C>G (p.Pro366Ala)
c.5116C>G (p.Pro1706Ala)
n.336-147545C>G
c.5104C>G (p.Pro1702Ala)
c.4759C>G (p.Pro1587Ala)
c.1105C>G (p.Pro369Ala)
c.4999C>G (p.Pro1667Ala)
Xg.32364608G>TCA412671466DMDc.5128C>A (p.Pro1710Thr)
c.1096C>A (p.Pro366Thr)
c.5116C>A (p.Pro1706Thr)
n.336-147545C>A
c.5104C>A (p.Pro1702Thr)
c.4759C>A (p.Pro1587Thr)
c.1105C>A (p.Pro369Thr)
c.4999C>A (p.Pro1667Thr)
 ClinVar
Xg.32364608_32364612delinsGTTTCCA2422769903DMDc.5124_5128delinsGAAAC (p.Lys1708=)
c.1092_1096delinsGAAAC (p.Lys364=)
c.5112_5116delinsGAAAC (p.Lys1704=)
n.336-147549_336-147545delinsGAAAC
c.5100_5104delinsGAAAC (p.Lys1700=)
c.4755_4759delinsGAAAC (p.Lys1585=)
c.1101_1105delinsGAAAC (p.Lys367=)
c.4995_4999delinsGAAAC (p.Lys1665=)
Xg.32364609T>ACA412671468DMDc.5127A>T (p.Lys1709Asn)
c.1095A>T (p.Lys365Asn)
c.5115A>T (p.Lys1705Asn)
n.336-147546A>T
c.5103A>T (p.Lys1701Asn)
c.4758A>T (p.Lys1586Asn)
c.1104A>T (p.Lys368Asn)
c.4998A>T (p.Lys1666Asn)
Xg.32364609T>CCA515714696DMDc.5127A>G (p.Lys1709=)
c.1095A>G (p.Lys365=)
c.5115A>G (p.Lys1705=)
n.336-147546A>G
c.5103A>G (p.Lys1701=)
c.4758A>G (p.Lys1586=)
c.1104A>G (p.Lys368=)
c.4998A>G (p.Lys1666=)
 dbSNP
Xg.32364609T>GCA412671467DMDc.5127A>C (p.Lys1709Asn)
c.1095A>C (p.Lys365Asn)
c.5115A>C (p.Lys1705Asn)
n.336-147546A>C
c.5103A>C (p.Lys1701Asn)
c.4758A>C (p.Lys1586Asn)
c.1104A>C (p.Lys368Asn)
c.4998A>C (p.Lys1666Asn)
 ClinVar
Xg.32364609T=CA2422769904DMDc.5127A= (p.Lys1709=)
c.1095A= (p.Lys365=)
c.5115A= (p.Lys1705=)
n.336-147546A=
c.5103A= (p.Lys1701=)
c.4758A= (p.Lys1586=)
c.1104A= (p.Lys368=)
c.4998A= (p.Lys1666=)
Xg.32364612_32364615delCA267051DMDc.5124_5127del (p.Lys1708AsnfsTer12)
c.1092_1095del (p.Lys364AsnfsTer12)
c.5112_5115del (p.Lys1704AsnfsTer12)
n.336-147549_336-147546del
c.5100_5103del (p.Lys1700AsnfsTer12)
c.4755_4758del (p.Lys1585AsnfsTer12)
c.1101_1104del (p.Lys367AsnfsTer12)
c.4995_4998del (p.Lys1665AsnfsTer12)
 ClinVar dbSNP
Xg.32364610T>ACA412671469DMDc.5126A>T (p.Lys1709Ile)
c.1094A>T (p.Lys365Ile)
c.5114A>T (p.Lys1705Ile)
n.336-147547A>T
c.5102A>T (p.Lys1701Ile)
c.4757A>T (p.Lys1586Ile)
c.1103A>T (p.Lys368Ile)
c.4997A>T (p.Lys1666Ile)
Xg.32364610T>CCA412671470DMDc.5126A>G (p.Lys1709Arg)
c.1094A>G (p.Lys365Arg)
c.5114A>G (p.Lys1705Arg)
n.336-147547A>G
c.5102A>G (p.Lys1701Arg)
c.4757A>G (p.Lys1586Arg)
c.1103A>G (p.Lys368Arg)
c.4997A>G (p.Lys1666Arg)
Xg.32364610T>GCA412671471DMDc.5126A>C (p.Lys1709Thr)
c.1094A>C (p.Lys365Thr)
c.5114A>C (p.Lys1705Thr)
n.336-147547A>C
c.5102A>C (p.Lys1701Thr)
c.4757A>C (p.Lys1586Thr)
c.1103A>C (p.Lys368Thr)
c.4997A>C (p.Lys1666Thr)
Xg.32364611T>ACA412671472DMDc.5125A>T (p.Lys1709Ter)
c.1093A>T (p.Lys365Ter)
c.5113A>T (p.Lys1705Ter)
n.336-147548A>T
c.5101A>T (p.Lys1701Ter)
c.4756A>T (p.Lys1586Ter)
c.1102A>T (p.Lys368Ter)
c.4996A>T (p.Lys1666Ter)
 gnomAD v4
Xg.32364611T>CCA412671473DMDc.5125A>G (p.Lys1709Glu)
c.1093A>G (p.Lys365Glu)
c.5113A>G (p.Lys1705Glu)
n.336-147548A>G
c.5101A>G (p.Lys1701Glu)
c.4756A>G (p.Lys1586Glu)
c.1102A>G (p.Lys368Glu)
c.4996A>G (p.Lys1666Glu)
Xg.32364611T>GCA412671474DMDc.5125A>C (p.Lys1709Gln)
c.1093A>C (p.Lys365Gln)
c.5113A>C (p.Lys1705Gln)
n.336-147548A>C
c.5101A>C (p.Lys1701Gln)
c.4756A>C (p.Lys1586Gln)
c.1102A>C (p.Lys368Gln)
c.4996A>C (p.Lys1666Gln)
Xg.32364612C>ACA412671475DMDc.5124G>T (p.Lys1708Asn)
c.1092G>T (p.Lys364Asn)
c.5112G>T (p.Lys1704Asn)
n.336-147549G>T
c.5100G>T (p.Lys1700Asn)
c.4755G>T (p.Lys1585Asn)
c.1101G>T (p.Lys367Asn)
c.4995G>T (p.Lys1665Asn)
 gnomAD v4
Xg.32364612C>GCA412671476DMDc.5124G>C (p.Lys1708Asn)
c.1092G>C (p.Lys364Asn)
c.5112G>C (p.Lys1704Asn)
n.336-147549G>C
c.5100G>C (p.Lys1700Asn)
c.4755G>C (p.Lys1585Asn)
c.1101G>C (p.Lys367Asn)
c.4995G>C (p.Lys1665Asn)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32364612C>TCA515714697DMDc.5124G>A (p.Lys1708=)
c.1092G>A (p.Lys364=)
c.5112G>A (p.Lys1704=)
n.336-147549G>A
c.5100G>A (p.Lys1700=)
c.4755G>A (p.Lys1585=)
c.1101G>A (p.Lys367=)
c.4995G>A (p.Lys1665=)
 dbSNP
Xg.32364613T>ACA412671477DMDc.5123A>T (p.Lys1708Met)
c.1091A>T (p.Lys364Met)
c.5111A>T (p.Lys1704Met)
n.336-147550A>T
c.5099A>T (p.Lys1700Met)
c.4754A>T (p.Lys1585Met)
c.1100A>T (p.Lys367Met)
c.4994A>T (p.Lys1665Met)
Xg.32364613T>CCA10378772DMDc.5123A>G (p.Lys1708Arg)
c.1091A>G (p.Lys364Arg)
c.5111A>G (p.Lys1704Arg)
n.336-147550A>G
c.5099A>G (p.Lys1700Arg)
c.4754A>G (p.Lys1585Arg)
c.1100A>G (p.Lys367Arg)
c.4994A>G (p.Lys1665Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364613T>GCA412671478DMDc.5123A>C (p.Lys1708Thr)
c.1091A>C (p.Lys364Thr)
c.5111A>C (p.Lys1704Thr)
n.336-147550A>C
c.5099A>C (p.Lys1700Thr)
c.4754A>C (p.Lys1585Thr)
c.1100A>C (p.Lys367Thr)
c.4994A>C (p.Lys1665Thr)
 ClinVar
Xg.32364613T=CA2422769905DMDc.5123A= (p.Lys1708=)
c.1091A= (p.Lys364=)
c.5111A= (p.Lys1704=)
n.336-147550A=
c.5099A= (p.Lys1700=)
c.4754A= (p.Lys1585=)
c.1100A= (p.Lys367=)
c.4994A= (p.Lys1665=)
Xg.32364617delCA2551480390DMDc.5123del (p.Lys1708ArgfsTer13)
c.1091del (p.Lys364ArgfsTer13)
c.5111del (p.Lys1704ArgfsTer13)
n.336-147550del
c.5099del (p.Lys1700ArgfsTer13)
c.4754del (p.Lys1585ArgfsTer13)
c.1100del (p.Lys367ArgfsTer13)
c.4994del (p.Lys1665ArgfsTer13)
Xg.32364614T>ACA412671479DMDc.5122A>T (p.Lys1708Ter)
c.1090A>T (p.Lys364Ter)
c.5110A>T (p.Lys1704Ter)
n.336-147551A>T
c.5098A>T (p.Lys1700Ter)
c.4753A>T (p.Lys1585Ter)
c.1099A>T (p.Lys367Ter)
c.4993A>T (p.Lys1665Ter)
Xg.32364614T>CCA412671481DMDc.5122A>G (p.Lys1708Glu)
c.1090A>G (p.Lys364Glu)
c.5110A>G (p.Lys1704Glu)
n.336-147551A>G
c.5098A>G (p.Lys1700Glu)
c.4753A>G (p.Lys1585Glu)
c.1099A>G (p.Lys367Glu)
c.4993A>G (p.Lys1665Glu)
Xg.32364614T>GCA412671482DMDc.5122A>C (p.Lys1708Gln)
c.1090A>C (p.Lys364Gln)
c.5110A>C (p.Lys1704Gln)
n.336-147551A>C
c.5098A>C (p.Lys1700Gln)
c.4753A>C (p.Lys1585Gln)
c.1099A>C (p.Lys367Gln)
c.4993A>C (p.Lys1665Gln)
Xg.32364615T>ACA412671483DMDc.5121A>T (p.Lys1707Asn)
c.1089A>T (p.Lys363Asn)
c.5109A>T (p.Lys1703Asn)
n.336-147552A>T
c.5097A>T (p.Lys1699Asn)
c.4752A>T (p.Lys1584Asn)
c.1098A>T (p.Lys366Asn)
c.4992A>T (p.Lys1664Asn)
Xg.32364615T>CCA515714698DMDc.5121A>G (p.Lys1707=)
c.1089A>G (p.Lys363=)
c.5109A>G (p.Lys1703=)
n.336-147552A>G
c.5097A>G (p.Lys1699=)
c.4752A>G (p.Lys1584=)
c.1098A>G (p.Lys366=)
c.4992A>G (p.Lys1664=)
 ClinVar
Xg.32364615T>GCA412671484DMDc.5121A>C (p.Lys1707Asn)
c.1089A>C (p.Lys363Asn)
c.5109A>C (p.Lys1703Asn)
n.336-147552A>C
c.5097A>C (p.Lys1699Asn)
c.4752A>C (p.Lys1584Asn)
c.1098A>C (p.Lys366Asn)
c.4992A>C (p.Lys1664Asn)
Xg.32364616T>ACA412671485DMDc.5120A>T (p.Lys1707Ile)
c.1088A>T (p.Lys363Ile)
c.5108A>T (p.Lys1703Ile)
n.336-147553A>T
c.5096A>T (p.Lys1699Ile)
c.4751A>T (p.Lys1584Ile)
c.1097A>T (p.Lys366Ile)
c.4991A>T (p.Lys1664Ile)
Xg.32364616T>CCA412671486DMDc.5120A>G (p.Lys1707Arg)
c.1088A>G (p.Lys363Arg)
c.5108A>G (p.Lys1703Arg)
n.336-147553A>G
c.5096A>G (p.Lys1699Arg)
c.4751A>G (p.Lys1584Arg)
c.1097A>G (p.Lys366Arg)
c.4991A>G (p.Lys1664Arg)
Xg.32364616T>GCA412671487DMDc.5120A>C (p.Lys1707Thr)
c.1088A>C (p.Lys363Thr)
c.5108A>C (p.Lys1703Thr)
n.336-147553A>C
c.5096A>C (p.Lys1699Thr)
c.4751A>C (p.Lys1584Thr)
c.1097A>C (p.Lys366Thr)
c.4991A>C (p.Lys1664Thr)
Xg.32364617T>ACA412671488DMDc.5119A>T (p.Lys1707Ter)
c.1087A>T (p.Lys363Ter)
c.5107A>T (p.Lys1703Ter)
n.336-147554A>T
c.5095A>T (p.Lys1699Ter)
c.4750A>T (p.Lys1584Ter)
c.1096A>T (p.Lys366Ter)
c.4990A>T (p.Lys1664Ter)
Xg.32364617T>CCA412671489DMDc.5119A>G (p.Lys1707Glu)
c.1087A>G (p.Lys363Glu)
c.5107A>G (p.Lys1703Glu)
n.336-147554A>G
c.5095A>G (p.Lys1699Glu)
c.4750A>G (p.Lys1584Glu)
c.1096A>G (p.Lys366Glu)
c.4990A>G (p.Lys1664Glu)
Xg.32364617T>GCA412671490DMDc.5119A>C (p.Lys1707Gln)
c.1087A>C (p.Lys363Gln)
c.5107A>C (p.Lys1703Gln)
n.336-147554A>C
c.5095A>C (p.Lys1699Gln)
c.4750A>C (p.Lys1584Gln)
c.1096A>C (p.Lys366Gln)
c.4990A>C (p.Lys1664Gln)
Xg.32364620_32364621delCA2695234092DMDc.5118_5119del (p.Lys1708GlufsTer10)
c.1086_1087del (p.Lys364GlufsTer10)
c.5106_5107del (p.Lys1704GlufsTer10)
n.336-147555_336-147554del
c.5094_5095del (p.Lys1700GlufsTer10)
c.4749_4750del (p.Lys1585GlufsTer10)
c.1095_1096del (p.Lys367GlufsTer10)
c.4989_4990del (p.Lys1665GlufsTer10)
Xg.32364618C>ACA412671491DMDc.5118G>T (p.Glu1706Asp)
c.1086G>T (p.Glu362Asp)
c.5106G>T (p.Glu1702Asp)
n.336-147555G>T
c.5094G>T (p.Glu1698Asp)
c.4749G>T (p.Glu1583Asp)
c.1095G>T (p.Glu365Asp)
c.4989G>T (p.Glu1663Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32364618C=CA2422769906DMDc.5118G= (p.Glu1706=)
c.1086G= (p.Glu362=)
c.5106G= (p.Glu1702=)
n.336-147555G=
c.5094G= (p.Glu1698=)
c.4749G= (p.Glu1583=)
c.1095G= (p.Glu365=)
c.4989G= (p.Glu1663=)
Xg.32364618C>GCA412671492DMDc.5118G>C (p.Glu1706Asp)
c.1086G>C (p.Glu362Asp)
c.5106G>C (p.Glu1702Asp)
n.336-147555G>C
c.5094G>C (p.Glu1698Asp)
c.4749G>C (p.Glu1583Asp)
c.1095G>C (p.Glu365Asp)
c.4989G>C (p.Glu1663Asp)
Xg.32364618C>TCA515714699DMDc.5118G>A (p.Glu1706=)
c.1086G>A (p.Glu362=)
c.5106G>A (p.Glu1702=)
n.336-147555G>A
c.5094G>A (p.Glu1698=)
c.4749G>A (p.Glu1583=)
c.1095G>A (p.Glu365=)
c.4989G>A (p.Glu1663=)
Xg.32364619T>ACA412671493DMDc.5117A>T (p.Glu1706Val)
c.1085A>T (p.Glu362Val)
c.5105A>T (p.Glu1702Val)
n.336-147556A>T
c.5093A>T (p.Glu1698Val)
c.4748A>T (p.Glu1583Val)
c.1094A>T (p.Glu365Val)
c.4988A>T (p.Glu1663Val)
Xg.32364619T>CCA10378773DMDc.5117A>G (p.Glu1706Gly)
c.1085A>G (p.Glu362Gly)
c.5105A>G (p.Glu1702Gly)
n.336-147556A>G
c.5093A>G (p.Glu1698Gly)
c.4748A>G (p.Glu1583Gly)
c.1094A>G (p.Glu365Gly)
c.4988A>G (p.Glu1663Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364619T>GCA412671494DMDc.5117A>C (p.Glu1706Ala)
c.1085A>C (p.Glu362Ala)
c.5105A>C (p.Glu1702Ala)
n.336-147556A>C
c.5093A>C (p.Glu1698Ala)
c.4748A>C (p.Glu1583Ala)
c.1094A>C (p.Glu365Ala)
c.4988A>C (p.Glu1663Ala)
Xg.32364619T=CA2422769907DMDc.5117A= (p.Glu1706=)
c.1085A= (p.Glu362=)
c.5105A= (p.Glu1702=)
n.336-147556A=
c.5093A= (p.Glu1698=)
c.4748A= (p.Glu1583=)
c.1094A= (p.Glu365=)
c.4988A= (p.Glu1663=)
Xg.32364620C>ACA412671497DMDc.5116G>T (p.Glu1706Ter)
c.1084G>T (p.Glu362Ter)
c.5104G>T (p.Glu1702Ter)
n.336-147557G>T
c.5092G>T (p.Glu1698Ter)
c.4747G>T (p.Glu1583Ter)
c.1093G>T (p.Glu365Ter)
c.4987G>T (p.Glu1663Ter)
Xg.32364620C>GCA412671496DMDc.5116G>C (p.Glu1706Gln)
c.1084G>C (p.Glu362Gln)
c.5104G>C (p.Glu1702Gln)
n.336-147557G>C
c.5092G>C (p.Glu1698Gln)
c.4747G>C (p.Glu1583Gln)
c.1093G>C (p.Glu365Gln)
c.4987G>C (p.Glu1663Gln)
Xg.32364620C>TCA412671495DMDc.5116G>A (p.Glu1706Lys)
c.1084G>A (p.Glu362Lys)
c.5104G>A (p.Glu1702Lys)
n.336-147557G>A
c.5092G>A (p.Glu1698Lys)
c.4747G>A (p.Glu1583Lys)
c.1093G>A (p.Glu365Lys)
c.4987G>A (p.Glu1663Lys)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364621T>ACA515714700DMDc.5115A>T (p.Ser1705=)
c.1083A>T (p.Ser361=)
c.5103A>T (p.Ser1701=)
n.336-147558A>T
c.5091A>T (p.Ser1697=)
c.4746A>T (p.Ser1582=)
c.1092A>T (p.Ser364=)
c.4986A>T (p.Ser1662=)
Xg.32364621T>CCA515714702DMDc.5115A>G (p.Ser1705=)
c.1083A>G (p.Ser361=)
c.5103A>G (p.Ser1701=)
n.336-147558A>G
c.5091A>G (p.Ser1697=)
c.4746A>G (p.Ser1582=)
c.1092A>G (p.Ser364=)
c.4986A>G (p.Ser1662=)
 ClinVar dbSNP
Xg.32364621T>GCA515714701DMDc.5115A>C (p.Ser1705=)
c.1083A>C (p.Ser361=)
c.5103A>C (p.Ser1701=)
n.336-147558A>C
c.5091A>C (p.Ser1697=)
c.4746A>C (p.Ser1582=)
c.1092A>C (p.Ser364=)
c.4986A>C (p.Ser1662=)
 ClinVar dbSNP
Xg.32364622G>ACA412671498DMDc.5114C>T (p.Ser1705Leu)
c.1082C>T (p.Ser361Leu)
c.5102C>T (p.Ser1701Leu)
n.336-147559C>T
c.5090C>T (p.Ser1697Leu)
c.4745C>T (p.Ser1582Leu)
c.1091C>T (p.Ser364Leu)
c.4985C>T (p.Ser1662Leu)
Xg.32364622G>CCA412671500DMDc.5114C>G (p.Ser1705Ter)
c.1082C>G (p.Ser361Ter)
c.5102C>G (p.Ser1701Ter)
n.336-147559C>G
c.5090C>G (p.Ser1697Ter)
c.4745C>G (p.Ser1582Ter)
c.1091C>G (p.Ser364Ter)
c.4985C>G (p.Ser1662Ter)
 ClinVar dbSNP
Xg.32364622G=CA2422769908DMDc.5114C= (p.Ser1705=)
c.1082C= (p.Ser361=)
c.5102C= (p.Ser1701=)
n.336-147559C=
c.5090C= (p.Ser1697=)
c.4745C= (p.Ser1582=)
c.1091C= (p.Ser364=)
c.4985C= (p.Ser1662=)
Xg.32364622G>TCA412671499DMDc.5114C>A (p.Ser1705Ter)
c.1082C>A (p.Ser361Ter)
c.5102C>A (p.Ser1701Ter)
n.336-147559C>A
c.5090C>A (p.Ser1697Ter)
c.4745C>A (p.Ser1582Ter)
c.1091C>A (p.Ser364Ter)
c.4985C>A (p.Ser1662Ter)
 ClinVar dbSNP
Xg.32364623A=CA2422769909DMDc.5113T= (p.Ser1705=)
c.1081T= (p.Ser361=)
c.5101T= (p.Ser1701=)
n.336-147560T=
c.5089T= (p.Ser1697=)
c.4744T= (p.Ser1582=)
c.1090T= (p.Ser364=)
c.4984T= (p.Ser1662=)
Xg.32364623A>CCA412671501DMDc.5113T>G (p.Ser1705Ala)
c.1081T>G (p.Ser361Ala)
c.5101T>G (p.Ser1701Ala)
n.336-147560T>G
c.5089T>G (p.Ser1697Ala)
c.4744T>G (p.Ser1582Ala)
c.1090T>G (p.Ser364Ala)
c.4984T>G (p.Ser1662Ala)
Xg.32364623A>GCA412671503DMDc.5113T>C (p.Ser1705Pro)
c.1081T>C (p.Ser361Pro)
c.5101T>C (p.Ser1701Pro)
n.336-147560T>C
c.5089T>C (p.Ser1697Pro)
c.4744T>C (p.Ser1582Pro)
c.1090T>C (p.Ser364Pro)
c.4984T>C (p.Ser1662Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.32364623A>TCA412671502DMDc.5113T>A (p.Ser1705Thr)
c.1081T>A (p.Ser361Thr)
c.5101T>A (p.Ser1701Thr)
n.336-147560T>A
c.5089T>A (p.Ser1697Thr)
c.4744T>A (p.Ser1582Thr)
c.1090T>A (p.Ser364Thr)
c.4984T>A (p.Ser1662Thr)
Xg.32364624T>ACA412671504DMDc.5112A>T (p.Glu1704Asp)
c.1080A>T (p.Glu360Asp)
c.5100A>T (p.Glu1700Asp)
n.336-147561A>T
c.5088A>T (p.Glu1696Asp)
c.4743A>T (p.Glu1581Asp)
c.1089A>T (p.Glu363Asp)
c.4983A>T (p.Glu1661Asp)
Xg.32364624T>CCA515714703DMDc.5112A>G (p.Glu1704=)
c.1080A>G (p.Glu360=)
c.5100A>G (p.Glu1700=)
n.336-147561A>G
c.5088A>G (p.Glu1696=)
c.4743A>G (p.Glu1581=)
c.1089A>G (p.Glu363=)
c.4983A>G (p.Glu1661=)
 ClinVar dbSNP
Xg.32364624T>GCA412671505DMDc.5112A>C (p.Glu1704Asp)
c.1080A>C (p.Glu360Asp)
c.5100A>C (p.Glu1700Asp)
n.336-147561A>C
c.5088A>C (p.Glu1696Asp)
c.4743A>C (p.Glu1581Asp)
c.1089A>C (p.Glu363Asp)
c.4983A>C (p.Glu1661Asp)
Xg.32364625T>ACA412671506DMDc.5111A>T (p.Glu1704Val)
c.1079A>T (p.Glu360Val)
c.5099A>T (p.Glu1700Val)
n.336-147562A>T
c.5087A>T (p.Glu1696Val)
c.4742A>T (p.Glu1581Val)
c.1088A>T (p.Glu363Val)
c.4982A>T (p.Glu1661Val)
Xg.32364625T>CCA412671508DMDc.5111A>G (p.Glu1704Gly)
c.1079A>G (p.Glu360Gly)
c.5099A>G (p.Glu1700Gly)
n.336-147562A>G
c.5087A>G (p.Glu1696Gly)
c.4742A>G (p.Glu1581Gly)
c.1088A>G (p.Glu363Gly)
c.4982A>G (p.Glu1661Gly)
Xg.32364625T>GCA412671507DMDc.5111A>C (p.Glu1704Ala)
c.1079A>C (p.Glu360Ala)
c.5099A>C (p.Glu1700Ala)
n.336-147562A>C
c.5087A>C (p.Glu1696Ala)
c.4742A>C (p.Glu1581Ala)
c.1088A>C (p.Glu363Ala)
c.4982A>C (p.Glu1661Ala)
Xg.32364626C>ACA16616488DMDc.5110G>T (p.Glu1704Ter)
c.1078G>T (p.Glu360Ter)
c.5098G>T (p.Glu1700Ter)
n.336-147563G>T
c.5086G>T (p.Glu1696Ter)
c.4741G>T (p.Glu1581Ter)
c.1087G>T (p.Glu363Ter)
c.4981G>T (p.Glu1661Ter)
 ClinVar dbSNP
Xg.32364626C=CA2422769910DMDc.5110G= (p.Glu1704=)
c.1078G= (p.Glu360=)
c.5098G= (p.Glu1700=)
n.336-147563G=
c.5086G= (p.Glu1696=)
c.4741G= (p.Glu1581=)
c.1087G= (p.Glu363=)
c.4981G= (p.Glu1661=)
Xg.32364626C>GCA412671509DMDc.5110G>C (p.Glu1704Gln)
c.1078G>C (p.Glu360Gln)
c.5098G>C (p.Glu1700Gln)
n.336-147563G>C
c.5086G>C (p.Glu1696Gln)
c.4741G>C (p.Glu1581Gln)
c.1087G>C (p.Glu363Gln)
c.4981G>C (p.Glu1661Gln)
Xg.32364626C>TCA10378774DMDc.5110G>A (p.Glu1704Lys)
c.1078G>A (p.Glu360Lys)
c.5098G>A (p.Glu1700Lys)
n.336-147563G>A
c.5086G>A (p.Glu1696Lys)
c.4741G>A (p.Glu1581Lys)
c.1087G>A (p.Glu363Lys)
c.4981G>A (p.Glu1661Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32364627A=CA2422769911DMDc.5109T= (p.Asp1703=)
c.1077T= (p.Asp359=)
c.5097T= (p.Asp1699=)
n.336-147564T=
c.5085T= (p.Asp1695=)
c.4740T= (p.Asp1580=)
c.1086T= (p.Asp362=)
c.4980T= (p.Asp1660=)
Xg.32364627A>CCA412671510DMDc.5109T>G (p.Asp1703Glu)
c.1077T>G (p.Asp359Glu)
c.5097T>G (p.Asp1699Glu)
n.336-147564T>G
c.5085T>G (p.Asp1695Glu)
c.4740T>G (p.Asp1580Glu)
c.1086T>G (p.Asp362Glu)
c.4980T>G (p.Asp1660Glu)
Xg.32364627A>GCA16609176DMDc.5109T>C (p.Asp1703=)
c.1077T>C (p.Asp359=)
c.5097T>C (p.Asp1699=)
n.336-147564T>C
c.5085T>C (p.Asp1695=)
c.4740T>C (p.Asp1580=)
c.1086T>C (p.Asp362=)
c.4980T>C (p.Asp1660=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364627A>TCA412671511DMDc.5109T>A (p.Asp1703Glu)
c.1077T>A (p.Asp359Glu)
c.5097T>A (p.Asp1699Glu)
n.336-147564T>A
c.5085T>A (p.Asp1695Glu)
c.4740T>A (p.Asp1580Glu)
c.1086T>A (p.Asp362Glu)
c.4980T>A (p.Asp1660Glu)
Xg.32364628T>ACA412671512DMDc.5108A>T (p.Asp1703Val)
c.1076A>T (p.Asp359Val)
c.5096A>T (p.Asp1699Val)
n.336-147565A>T
c.5084A>T (p.Asp1695Val)
c.4739A>T (p.Asp1580Val)
c.1085A>T (p.Asp362Val)
c.4979A>T (p.Asp1660Val)
Xg.32364628T>CCA412671513DMDc.5108A>G (p.Asp1703Gly)
c.1076A>G (p.Asp359Gly)
c.5096A>G (p.Asp1699Gly)
n.336-147565A>G
c.5084A>G (p.Asp1695Gly)
c.4739A>G (p.Asp1580Gly)
c.1085A>G (p.Asp362Gly)
c.4979A>G (p.Asp1660Gly)
Xg.32364628T>GCA412671514DMDc.5108A>C (p.Asp1703Ala)
c.1076A>C (p.Asp359Ala)
c.5096A>C (p.Asp1699Ala)
n.336-147565A>C
c.5084A>C (p.Asp1695Ala)
c.4739A>C (p.Asp1580Ala)
c.1085A>C (p.Asp362Ala)
c.4979A>C (p.Asp1660Ala)
Xg.32364629C>ACA412671515DMDc.5107G>T (p.Asp1703Tyr)
c.1075G>T (p.Asp359Tyr)
c.5095G>T (p.Asp1699Tyr)
n.336-147566G>T
c.5083G>T (p.Asp1695Tyr)
c.4738G>T (p.Asp1580Tyr)
c.1084G>T (p.Asp362Tyr)
c.4978G>T (p.Asp1660Tyr)
 dbSNP
Xg.32364629C>GCA412671516DMDc.5107G>C (p.Asp1703His)
c.1075G>C (p.Asp359His)
c.5095G>C (p.Asp1699His)
n.336-147566G>C
c.5083G>C (p.Asp1695His)
c.4738G>C (p.Asp1580His)
c.1084G>C (p.Asp362His)
c.4978G>C (p.Asp1660His)
Xg.32364629C>TCA412671517DMDc.5107G>A (p.Asp1703Asn)
c.1075G>A (p.Asp359Asn)
c.5095G>A (p.Asp1699Asn)
n.336-147566G>A
c.5083G>A (p.Asp1695Asn)
c.4738G>A (p.Asp1580Asn)
c.1084G>A (p.Asp362Asn)
c.4978G>A (p.Asp1660Asn)
 ClinVar
Xg.32364630C>ACA412671518DMDc.5106G>T (p.Leu1702Phe)
c.1074G>T (p.Leu358Phe)
c.5094G>T (p.Leu1698Phe)
n.336-147567G>T
c.5082G>T (p.Leu1694Phe)
c.4737G>T (p.Leu1579Phe)
c.1083G>T (p.Leu361Phe)
c.4977G>T (p.Leu1659Phe)
Xg.32364630C>GCA412671519DMDc.5106G>C (p.Leu1702Phe)
c.1074G>C (p.Leu358Phe)
c.5094G>C (p.Leu1698Phe)
n.336-147567G>C
c.5082G>C (p.Leu1694Phe)
c.4737G>C (p.Leu1579Phe)
c.1083G>C (p.Leu361Phe)
c.4977G>C (p.Leu1659Phe)
Xg.32364630C>TCA515714704DMDc.5106G>A (p.Leu1702=)
c.1074G>A (p.Leu358=)
c.5094G>A (p.Leu1698=)
n.336-147567G>A
c.5082G>A (p.Leu1694=)
c.4737G>A (p.Leu1579=)
c.1083G>A (p.Leu361=)
c.4977G>A (p.Leu1659=)
Xg.32364631A>CCA412671522DMDc.5105T>G (p.Leu1702Trp)
c.1073T>G (p.Leu358Trp)
c.5093T>G (p.Leu1698Trp)
n.336-147568T>G
c.5081T>G (p.Leu1694Trp)
c.4736T>G (p.Leu1579Trp)
c.1082T>G (p.Leu361Trp)
c.4976T>G (p.Leu1659Trp)
Xg.32364631A>GCA412671520DMDc.5105T>C (p.Leu1702Ser)
c.1073T>C (p.Leu358Ser)
c.5093T>C (p.Leu1698Ser)
n.336-147568T>C
c.5081T>C (p.Leu1694Ser)
c.4736T>C (p.Leu1579Ser)
c.1082T>C (p.Leu361Ser)
c.4976T>C (p.Leu1659Ser)
Xg.32364631A>TCA412671521DMDc.5105T>A (p.Leu1702Ter)
c.1073T>A (p.Leu358Ter)
c.5093T>A (p.Leu1698Ter)
n.336-147568T>A
c.5081T>A (p.Leu1694Ter)
c.4736T>A (p.Leu1579Ter)
c.1082T>A (p.Leu361Ter)
c.4976T>A (p.Leu1659Ter)
Xg.32364633_32364634delCA2573158564DMDc.5104_5105del (p.Leu1702GlyfsTer2)
c.1072_1073del (p.Leu358GlyfsTer2)
c.5092_5093del (p.Leu1698GlyfsTer2)
n.336-147569_336-147568del
c.5080_5081del (p.Leu1694GlyfsTer2)
c.4735_4736del (p.Leu1579GlyfsTer2)
c.1081_1082del (p.Leu361GlyfsTer2)
c.4975_4976del (p.Leu1659GlyfsTer2)
 ClinVar dbSNP
Xg.32364632A=CA2422769912DMDc.5104T= (p.Leu1702=)
c.1072T= (p.Leu358=)
c.5092T= (p.Leu1698=)
n.336-147569T=
c.5080T= (p.Leu1694=)
c.4735T= (p.Leu1579=)
c.1081T= (p.Leu361=)
c.4975T= (p.Leu1659=)
Xg.32364632A>CCA412671523DMDc.5104T>G (p.Leu1702Val)
c.1072T>G (p.Leu358Val)
c.5092T>G (p.Leu1698Val)
n.336-147569T>G
c.5080T>G (p.Leu1694Val)
c.4735T>G (p.Leu1579Val)
c.1081T>G (p.Leu361Val)
c.4975T>G (p.Leu1659Val)
Xg.32364632A>GCA10378775DMDc.5104T>C (p.Leu1702=)
c.1072T>C (p.Leu358=)
c.5092T>C (p.Leu1698=)
n.336-147569T>C
c.5080T>C (p.Leu1694=)
c.4735T>C (p.Leu1579=)
c.1081T>C (p.Leu361=)
c.4975T>C (p.Leu1659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364632A>TCA412671524DMDc.5104T>A (p.Leu1702Met)
c.1072T>A (p.Leu358Met)
c.5092T>A (p.Leu1698Met)
n.336-147569T>A
c.5080T>A (p.Leu1694Met)
c.4735T>A (p.Leu1579Met)
c.1081T>A (p.Leu361Met)
c.4975T>A (p.Leu1659Met)
Xg.32364633A>CCA515714705DMDc.5103T>G (p.Leu1701=)
c.1071T>G (p.Leu357=)
c.5091T>G (p.Leu1697=)
n.336-147570T>G
c.5079T>G (p.Leu1693=)
c.4734T>G (p.Leu1578=)
c.1080T>G (p.Leu360=)
c.4974T>G (p.Leu1658=)
Xg.32364633A>GCA515714706DMDc.5103T>C (p.Leu1701=)
c.1071T>C (p.Leu357=)
c.5091T>C (p.Leu1697=)
n.336-147570T>C
c.5079T>C (p.Leu1693=)
c.4734T>C (p.Leu1578=)
c.1080T>C (p.Leu360=)
c.4974T>C (p.Leu1658=)
Xg.32364633A>TCA515714707DMDc.5103T>A (p.Leu1701=)
c.1071T>A (p.Leu357=)
c.5091T>A (p.Leu1697=)
n.336-147570T>A
c.5079T>A (p.Leu1693=)
c.4734T>A (p.Leu1578=)
c.1080T>A (p.Leu360=)
c.4974T>A (p.Leu1658=)
Xg.32364634A>CCA412671525DMDc.5102T>G (p.Leu1701Arg)
c.1070T>G (p.Leu357Arg)
c.5090T>G (p.Leu1697Arg)
n.336-147571T>G
c.5078T>G (p.Leu1693Arg)
c.4733T>G (p.Leu1578Arg)
c.1079T>G (p.Leu360Arg)
c.4973T>G (p.Leu1658Arg)
Xg.32364634A>GCA412671526DMDc.5102T>C (p.Leu1701Pro)
c.1070T>C (p.Leu357Pro)
c.5090T>C (p.Leu1697Pro)
n.336-147571T>C
c.5078T>C (p.Leu1693Pro)
c.4733T>C (p.Leu1578Pro)
c.1079T>C (p.Leu360Pro)
c.4973T>C (p.Leu1658Pro)
Xg.32364634A>TCA412671527DMDc.5102T>A (p.Leu1701His)
c.1070T>A (p.Leu357His)
c.5090T>A (p.Leu1697His)
n.336-147571T>A
c.5078T>A (p.Leu1693His)
c.4733T>A (p.Leu1578His)
c.1079T>A (p.Leu360His)
c.4973T>A (p.Leu1658His)
Xg.32364634_32364636delinsAGTCA2422769913DMDc.5100_5102delinsACT (p.Thr1700=)
c.1068_1070delinsACT (p.Thr356=)
c.5088_5090delinsACT (p.Thr1696=)
n.336-147573_336-147571delinsACT
c.5076_5078delinsACT (p.Thr1692=)
c.4731_4733delinsACT (p.Thr1577=)
c.1077_1079delinsACT (p.Thr359=)
c.4971_4973delinsACT (p.Thr1657=)
Xg.32364635delCA2695234093DMDc.5101del (p.Leu1701PhefsTer20)
c.1069del (p.Leu357PhefsTer20)
c.5089del (p.Leu1697PhefsTer20)
n.336-147572del
c.5077del (p.Leu1693PhefsTer20)
c.4732del (p.Leu1578PhefsTer20)
c.1078del (p.Leu360PhefsTer20)
c.4972del (p.Leu1658PhefsTer20)
Xg.32364635G>ACA412671528DMDc.5101C>T (p.Leu1701Phe)
c.1069C>T (p.Leu357Phe)
c.5089C>T (p.Leu1697Phe)
n.336-147572C>T
c.5077C>T (p.Leu1693Phe)
c.4732C>T (p.Leu1578Phe)
c.1078C>T (p.Leu360Phe)
c.4972C>T (p.Leu1658Phe)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364635G>CCA412671529DMDc.5101C>G (p.Leu1701Val)
c.1069C>G (p.Leu357Val)
c.5089C>G (p.Leu1697Val)
n.336-147572C>G
c.5077C>G (p.Leu1693Val)
c.4732C>G (p.Leu1578Val)
c.1078C>G (p.Leu360Val)
c.4972C>G (p.Leu1658Val)
Xg.32364635G>TCA412671530DMDc.5101C>A (p.Leu1701Ile)
c.1069C>A (p.Leu357Ile)
c.5089C>A (p.Leu1697Ile)
n.336-147572C>A
c.5077C>A (p.Leu1693Ile)
c.4732C>A (p.Leu1578Ile)
c.1078C>A (p.Leu360Ile)
c.4972C>A (p.Leu1658Ile)
Xg.32364639_32364640delCA16616678DMDc.5100_5101del (p.Leu1701PhefsTer3)
c.1068_1069del (p.Leu357PhefsTer3)
c.5088_5089del (p.Leu1697PhefsTer3)
n.336-147573_336-147572del
c.5076_5077del (p.Leu1693PhefsTer3)
c.4731_4732del (p.Leu1578PhefsTer3)
c.1077_1078del (p.Leu360PhefsTer3)
c.4971_4972del (p.Leu1658PhefsTer3)
 ClinVar dbSNP
Xg.32364636T>ACA515714710DMDc.5100A>T (p.Thr1700=)
c.1068A>T (p.Thr356=)
c.5088A>T (p.Thr1696=)
n.336-147573A>T
c.5076A>T (p.Thr1692=)
c.4731A>T (p.Thr1577=)
c.1077A>T (p.Thr359=)
c.4971A>T (p.Thr1657=)
Xg.32364636T>CCA515714709DMDc.5100A>G (p.Thr1700=)
c.1068A>G (p.Thr356=)
c.5088A>G (p.Thr1696=)
n.336-147573A>G
c.5076A>G (p.Thr1692=)
c.4731A>G (p.Thr1577=)
c.1077A>G (p.Thr359=)
c.4971A>G (p.Thr1657=)
 ClinVar dbSNP
Xg.32364636T>GCA515714708DMDc.5100A>C (p.Thr1700=)
c.1068A>C (p.Thr356=)
c.5088A>C (p.Thr1696=)
n.336-147573A>C
c.5076A>C (p.Thr1692=)
c.4731A>C (p.Thr1577=)
c.1077A>C (p.Thr359=)
c.4971A>C (p.Thr1657=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32364636T=CA2422769914DMDc.5100A= (p.Thr1700=)
c.1068A= (p.Thr356=)
c.5088A= (p.Thr1696=)
n.336-147573A=
c.5076A= (p.Thr1692=)
c.4731A= (p.Thr1577=)
c.1077A= (p.Thr359=)
c.4971A= (p.Thr1657=)
Xg.32364637G>ACA412671533DMDc.5099C>T (p.Thr1700Ile)
c.1067C>T (p.Thr356Ile)
c.5087C>T (p.Thr1696Ile)
n.336-147574C>T
c.5075C>T (p.Thr1692Ile)
c.4730C>T (p.Thr1577Ile)
c.1076C>T (p.Thr359Ile)
c.4970C>T (p.Thr1657Ile)
Xg.32364637G>CCA412671532DMDc.5099C>G (p.Thr1700Arg)
c.1067C>G (p.Thr356Arg)
c.5087C>G (p.Thr1696Arg)
n.336-147574C>G
c.5075C>G (p.Thr1692Arg)
c.4730C>G (p.Thr1577Arg)
c.1076C>G (p.Thr359Arg)
c.4970C>G (p.Thr1657Arg)
Xg.32364637G>TCA412671531DMDc.5099C>A (p.Thr1700Lys)
c.1067C>A (p.Thr356Lys)
c.5087C>A (p.Thr1696Lys)
n.336-147574C>A
c.5075C>A (p.Thr1692Lys)
c.4730C>A (p.Thr1577Lys)
c.1076C>A (p.Thr359Lys)
c.4970C>A (p.Thr1657Lys)
Xg.32364637_32364639delinsGTGCA2422769915DMDc.5097_5099delinsCAC (p.Asp1699=)
c.1065_1067delinsCAC (p.Asp355=)
c.5085_5087delinsCAC (p.Asp1695=)
n.336-147576_336-147574delinsCAC
c.5073_5075delinsCAC (p.Asp1691=)
c.4728_4730delinsCAC (p.Asp1576=)
c.1074_1076delinsCAC (p.Asp358=)
c.4968_4970delinsCAC (p.Asp1656=)
Xg.32364638T>ACA412671534DMDc.5098A>T (p.Thr1700Ser)
c.1066A>T (p.Thr356Ser)
c.5086A>T (p.Thr1696Ser)
n.336-147575A>T
c.5074A>T (p.Thr1692Ser)
c.4729A>T (p.Thr1577Ser)
c.1075A>T (p.Thr359Ser)
c.4969A>T (p.Thr1657Ser)
Xg.32364638T>CCA412671535DMDc.5098A>G (p.Thr1700Ala)
c.1066A>G (p.Thr356Ala)
c.5086A>G (p.Thr1696Ala)
n.336-147575A>G
c.5074A>G (p.Thr1692Ala)
c.4729A>G (p.Thr1577Ala)
c.1075A>G (p.Thr359Ala)
c.4969A>G (p.Thr1657Ala)
Xg.32364638T>GCA412671536DMDc.5098A>C (p.Thr1700Pro)
c.1066A>C (p.Thr356Pro)
c.5086A>C (p.Thr1696Pro)
n.336-147575A>C
c.5074A>C (p.Thr1692Pro)
c.4729A>C (p.Thr1577Pro)
c.1075A>C (p.Thr359Pro)
c.4969A>C (p.Thr1657Pro)
Xg.32364638_32364639delinsAATGAATTCATTCATCA327995214DMDc.5097_5098delinsATGAATGAATTCATT (p.Asp1699GlufsTer2)
c.1065_1066delinsATGAATGAATTCATT (p.Asp355GlufsTer2)
c.5085_5086delinsATGAATGAATTCATT (p.Asp1695GlufsTer2)
n.336-147576_336-147575delinsATGAATGAATTCATT
c.5073_5074delinsATGAATGAATTCATT (p.Asp1691GlufsTer2)
c.4728_4729delinsATGAATGAATTCATT (p.Asp1576GlufsTer2)
c.1074_1075delinsATGAATGAATTCATT (p.Asp358GlufsTer2)
c.4968_4969delinsATGAATGAATTCATT (p.Asp1656GlufsTer2)
 ClinVar dbSNP
Xg.32364639G>ACA515714711DMDc.5097C>T (p.Asp1699=)
c.1065C>T (p.Asp355=)
c.5085C>T (p.Asp1695=)
n.336-147576C>T
c.5073C>T (p.Asp1691=)
c.4728C>T (p.Asp1576=)
c.1074C>T (p.Asp358=)
c.4968C>T (p.Asp1656=)
Xg.32364639G>CCA412671537DMDc.5097C>G (p.Asp1699Glu)
c.1065C>G (p.Asp355Glu)
c.5085C>G (p.Asp1695Glu)
n.336-147576C>G
c.5073C>G (p.Asp1691Glu)
c.4728C>G (p.Asp1576Glu)
c.1074C>G (p.Asp358Glu)
c.4968C>G (p.Asp1656Glu)
Xg.32364639G=CA2422769916DMDc.5097C= (p.Asp1699=)
c.1065C= (p.Asp355=)
c.5085C= (p.Asp1695=)
n.336-147576C=
c.5073C= (p.Asp1691=)
c.4728C= (p.Asp1576=)
c.1074C= (p.Asp358=)
c.4968C= (p.Asp1656=)
Xg.32364639G>TCA308355DMDc.5097C>A (p.Asp1699Glu)
c.1065C>A (p.Asp355Glu)
c.5085C>A (p.Asp1695Glu)
n.336-147576C>A
c.5073C>A (p.Asp1691Glu)
c.4728C>A (p.Asp1576Glu)
c.1074C>A (p.Asp358Glu)
c.4968C>A (p.Asp1656Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32364639dupCA2695234094DMDc.5097dup (p.Thr1700HisfsTer5)
c.1065dup (p.Thr356HisfsTer5)
c.5085dup (p.Thr1696HisfsTer5)
n.336-147576dup
c.5073dup (p.Thr1692HisfsTer5)
c.4728dup (p.Thr1577HisfsTer5)
c.1074dup (p.Thr359HisfsTer5)
c.4968dup (p.Thr1657HisfsTer5)
Xg.32364640T>ACA412671538DMDc.5096A>T (p.Asp1699Val)
c.1064A>T (p.Asp355Val)
c.5084A>T (p.Asp1695Val)
n.336-147577A>T
c.5072A>T (p.Asp1691Val)
c.4727A>T (p.Asp1576Val)
c.1073A>T (p.Asp358Val)
c.4967A>T (p.Asp1656Val)
Xg.32364640T>CCA412671539DMDc.5096A>G (p.Asp1699Gly)
c.1064A>G (p.Asp355Gly)
c.5084A>G (p.Asp1695Gly)
n.336-147577A>G
c.5072A>G (p.Asp1691Gly)
c.4727A>G (p.Asp1576Gly)
c.1073A>G (p.Asp358Gly)
c.4967A>G (p.Asp1656Gly)
 gnomAD v4
Xg.32364640T>GCA412671540DMDc.5096A>C (p.Asp1699Ala)
c.1064A>C (p.Asp355Ala)
c.5084A>C (p.Asp1695Ala)
n.336-147577A>C
c.5072A>C (p.Asp1691Ala)
c.4727A>C (p.Asp1576Ala)
c.1073A>C (p.Asp358Ala)
c.4967A>C (p.Asp1656Ala)
Xg.32364641C>ACA412671541DMDc.5095G>T (p.Asp1699Tyr)
c.1063G>T (p.Asp355Tyr)
c.5083G>T (p.Asp1695Tyr)
n.336-147578G>T
c.5071G>T (p.Asp1691Tyr)
c.4726G>T (p.Asp1576Tyr)
c.1072G>T (p.Asp358Tyr)
c.4966G>T (p.Asp1656Tyr)
Xg.32364641C>GCA412671542DMDc.5095G>C (p.Asp1699His)
c.1063G>C (p.Asp355His)
c.5083G>C (p.Asp1695His)
n.336-147578G>C
c.5071G>C (p.Asp1691His)
c.4726G>C (p.Asp1576His)
c.1072G>C (p.Asp358His)
c.4966G>C (p.Asp1656His)
Xg.32364641C>TCA412671543DMDc.5095G>A (p.Asp1699Asn)
c.1063G>A (p.Asp355Asn)
c.5083G>A (p.Asp1695Asn)
n.336-147578G>A
c.5071G>A (p.Asp1691Asn)
c.4726G>A (p.Asp1576Asn)
c.1072G>A (p.Asp358Asn)
c.4966G>A (p.Asp1656Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364642A=CA2422769917DMDc.5094T= (p.Ala1698=)
c.1062T= (p.Ala354=)
c.5082T= (p.Ala1694=)
n.336-147579T=
c.5070T= (p.Ala1690=)
c.4725T= (p.Ala1575=)
c.1071T= (p.Ala357=)
c.4965T= (p.Ala1655=)
Xg.32364642A>CCA515714712DMDc.5094T>G (p.Ala1698=)
c.1062T>G (p.Ala354=)
c.5082T>G (p.Ala1694=)
n.336-147579T>G
c.5070T>G (p.Ala1690=)
c.4725T>G (p.Ala1575=)
c.1071T>G (p.Ala357=)
c.4965T>G (p.Ala1655=)
 dbSNP gnomAD v3 gnomAD v4
Xg.32364642A>GCA515714713DMDc.5094T>C (p.Ala1698=)
c.1062T>C (p.Ala354=)
c.5082T>C (p.Ala1694=)
n.336-147579T>C
c.5070T>C (p.Ala1690=)
c.4725T>C (p.Ala1575=)
c.1071T>C (p.Ala357=)
c.4965T>C (p.Ala1655=)
 ClinVar
Xg.32364642A>TCA515714714DMDc.5094T>A (p.Ala1698=)
c.1062T>A (p.Ala354=)
c.5082T>A (p.Ala1694=)
n.336-147579T>A
c.5070T>A (p.Ala1690=)
c.4725T>A (p.Ala1575=)
c.1071T>A (p.Ala357=)
c.4965T>A (p.Ala1655=)
Xg.32364643G>ACA412671546DMDc.5093C>T (p.Ala1698Val)
c.1061C>T (p.Ala354Val)
c.5081C>T (p.Ala1694Val)
n.336-147580C>T
c.5069C>T (p.Ala1690Val)
c.4724C>T (p.Ala1575Val)
c.1070C>T (p.Ala357Val)
c.4964C>T (p.Ala1655Val)
 ClinVar dbSNP gnomAD v4
Xg.32364643G>CCA412671545DMDc.5093C>G (p.Ala1698Gly)
c.1061C>G (p.Ala354Gly)
c.5081C>G (p.Ala1694Gly)
n.336-147580C>G
c.5069C>G (p.Ala1690Gly)
c.4724C>G (p.Ala1575Gly)
c.1070C>G (p.Ala357Gly)
c.4964C>G (p.Ala1655Gly)
 gnomAD v4
Xg.32364643G=CA2422769918DMDc.5093C= (p.Ala1698=)
c.1061C= (p.Ala354=)
c.5081C= (p.Ala1694=)
n.336-147580C=
c.5069C= (p.Ala1690=)
c.4724C= (p.Ala1575=)
c.1070C= (p.Ala357=)
c.4964C= (p.Ala1655=)
Xg.32364643G>TCA412671544DMDc.5093C>A (p.Ala1698Asp)
c.1061C>A (p.Ala354Asp)
c.5081C>A (p.Ala1694Asp)
n.336-147580C>A
c.5069C>A (p.Ala1690Asp)
c.4724C>A (p.Ala1575Asp)
c.1070C>A (p.Ala357Asp)
c.4964C>A (p.Ala1655Asp)
 COSMIC COSMIC COSMIC
Xg.32364644C>ACA412671547DMDc.5092G>T (p.Ala1698Ser)
c.1060G>T (p.Ala354Ser)
c.5080G>T (p.Ala1694Ser)
n.336-147581G>T
c.5068G>T (p.Ala1690Ser)
c.4723G>T (p.Ala1575Ser)
c.1069G>T (p.Ala357Ser)
c.4963G>T (p.Ala1655Ser)
Xg.32364644C>GCA412671548DMDc.5092G>C (p.Ala1698Pro)
c.1060G>C (p.Ala354Pro)
c.5080G>C (p.Ala1694Pro)
n.336-147581G>C
c.5068G>C (p.Ala1690Pro)
c.4723G>C (p.Ala1575Pro)
c.1069G>C (p.Ala357Pro)
c.4963G>C (p.Ala1655Pro)
Xg.32364644C>TCA412671549DMDc.5092G>A (p.Ala1698Thr)
c.1060G>A (p.Ala354Thr)
c.5080G>A (p.Ala1694Thr)
n.336-147581G>A
c.5068G>A (p.Ala1690Thr)
c.4723G>A (p.Ala1575Thr)
c.1069G>A (p.Ala357Thr)
c.4963G>A (p.Ala1655Thr)
 gnomAD v4
Xg.32364645delCA2695234095DMDc.5092del (p.Ala1698LeufsTer23)
c.1060del (p.Ala354LeufsTer23)
c.5080del (p.Ala1694LeufsTer23)
n.336-147581del
c.5068del (p.Ala1690LeufsTer23)
c.4723del (p.Ala1575LeufsTer23)
c.1069del (p.Ala357LeufsTer23)
c.4963del (p.Ala1655LeufsTer23)
Xg.32364645C>ACA10378776DMDc.5091G>T (p.Gln1697His)
c.1059G>T (p.Gln353His)
c.5079G>T (p.Gln1693His)
n.336-147582G>T
c.5067G>T (p.Gln1689His)
c.4722G>T (p.Gln1574His)
c.1068G>T (p.Gln356His)
c.4962G>T (p.Gln1654His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32364645C=CA2422769919DMDc.5091G= (p.Gln1697=)
c.1059G= (p.Gln353=)
c.5079G= (p.Gln1693=)
n.336-147582G=
c.5067G= (p.Gln1689=)
c.4722G= (p.Gln1574=)
c.1068G= (p.Gln356=)
c.4962G= (p.Gln1654=)
Xg.32364645C>GCA412671550DMDc.5091G>C (p.Gln1697His)
c.1059G>C (p.Gln353His)
c.5079G>C (p.Gln1693His)
n.336-147582G>C
c.5067G>C (p.Gln1689His)
c.4722G>C (p.Gln1574His)
c.1068G>C (p.Gln356His)
c.4962G>C (p.Gln1654His)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32364645C>TCA515714715DMDc.5091G>A (p.Gln1697=)
c.1059G>A (p.Gln353=)
c.5079G>A (p.Gln1693=)
n.336-147582G>A
c.5067G>A (p.Gln1689=)
c.4722G>A (p.Gln1574=)
c.1068G>A (p.Gln356=)
c.4962G>A (p.Gln1654=)
Xg.32364646T>ACA412671551DMDc.5090A>T (p.Gln1697Leu)
c.1058A>T (p.Gln353Leu)
c.5078A>T (p.Gln1693Leu)
n.336-147583A>T
c.5066A>T (p.Gln1689Leu)
c.4721A>T (p.Gln1574Leu)
c.1067A>T (p.Gln356Leu)
c.4961A>T (p.Gln1654Leu)
Xg.32364646T>CCA412671552DMDc.5090A>G (p.Gln1697Arg)
c.1058A>G (p.Gln353Arg)
c.5078A>G (p.Gln1693Arg)
n.336-147583A>G
c.5066A>G (p.Gln1689Arg)
c.4721A>G (p.Gln1574Arg)
c.1067A>G (p.Gln356Arg)
c.4961A>G (p.Gln1654Arg)
Xg.32364646T>GCA412671553DMDc.5090A>C (p.Gln1697Pro)
c.1058A>C (p.Gln353Pro)
c.5078A>C (p.Gln1693Pro)
n.336-147583A>C
c.5066A>C (p.Gln1689Pro)
c.4721A>C (p.Gln1574Pro)
c.1067A>C (p.Gln356Pro)
c.4961A>C (p.Gln1654Pro)
 COSMIC COSMIC COSMIC COSMIC
Xg.32364647G>ACA10604112DMDc.5089C>T (p.Gln1697Ter)
c.1057C>T (p.Gln353Ter)
c.5077C>T (p.Gln1693Ter)
n.336-147584C>T
c.5065C>T (p.Gln1689Ter)
c.4720C>T (p.Gln1574Ter)
c.1066C>T (p.Gln356Ter)
c.4960C>T (p.Gln1654Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32364647G>CCA412671554DMDc.5089C>G (p.Gln1697Glu)
c.1057C>G (p.Gln353Glu)
c.5077C>G (p.Gln1693Glu)
n.336-147584C>G
c.5065C>G (p.Gln1689Glu)
c.4720C>G (p.Gln1574Glu)
c.1066C>G (p.Gln356Glu)
c.4960C>G (p.Gln1654Glu)
Xg.32364647G=CA2422769920DMDc.5089C= (p.Gln1697=)
c.1057C= (p.Gln353=)
c.5077C= (p.Gln1693=)
n.336-147584C=
c.5065C= (p.Gln1689=)
c.4720C= (p.Gln1574=)
c.1066C= (p.Gln356=)
c.4960C= (p.Gln1654=)
Xg.32364647G>TCA412671555DMDc.5089C>A (p.Gln1697Lys)
c.1057C>A (p.Gln353Lys)
c.5077C>A (p.Gln1693Lys)
n.336-147584C>A
c.5065C>A (p.Gln1689Lys)
c.4720C>A (p.Gln1574Lys)
c.1066C>A (p.Gln356Lys)
c.4960C>A (p.Gln1654Lys)
Xg.32364648A>CCA412671556DMDc.5088T>G (p.Ile1696Met)
c.1056T>G (p.Ile352Met)
c.5076T>G (p.Ile1692Met)
n.336-147585T>G
c.5064T>G (p.Ile1688Met)
c.4719T>G (p.Ile1573Met)
c.1065T>G (p.Ile355Met)
c.4959T>G (p.Ile1653Met)
Xg.32364648A>GCA515714716DMDc.5088T>C (p.Ile1696=)
c.1056T>C (p.Ile352=)
c.5076T>C (p.Ile1692=)
n.336-147585T>C
c.5064T>C (p.Ile1688=)
c.4719T>C (p.Ile1573=)
c.1065T>C (p.Ile355=)
c.4959T>C (p.Ile1653=)
Xg.32364648A>TCA515714717DMDc.5088T>A (p.Ile1696=)
c.1056T>A (p.Ile352=)
c.5076T>A (p.Ile1692=)
n.336-147585T>A
c.5064T>A (p.Ile1688=)
c.4719T>A (p.Ile1573=)
c.1065T>A (p.Ile355=)
c.4959T>A (p.Ile1653=)
Xg.32364649A>CCA412671558DMDc.5087T>G (p.Ile1696Ser)
c.1055T>G (p.Ile352Ser)
c.5075T>G (p.Ile1692Ser)
n.336-147586T>G
c.5063T>G (p.Ile1688Ser)
c.4718T>G (p.Ile1573Ser)
c.1064T>G (p.Ile355Ser)
c.4958T>G (p.Ile1653Ser)
Xg.32364649A>GCA412671559DMDc.5087T>C (p.Ile1696Thr)
c.1055T>C (p.Ile352Thr)
c.5075T>C (p.Ile1692Thr)
n.336-147586T>C
c.5063T>C (p.Ile1688Thr)
c.4718T>C (p.Ile1573Thr)
c.1064T>C (p.Ile355Thr)
c.4958T>C (p.Ile1653Thr)
Xg.32364649A>TCA412671557DMDc.5087T>A (p.Ile1696Asn)
c.1055T>A (p.Ile352Asn)
c.5075T>A (p.Ile1692Asn)
n.336-147586T>A
c.5063T>A (p.Ile1688Asn)
c.4718T>A (p.Ile1573Asn)
c.1064T>A (p.Ile355Asn)
c.4958T>A (p.Ile1653Asn)
Xg.32364650delCA2695234096DMDc.5086del (p.Ile1696PhefsTer25)
c.1054del (p.Ile352PhefsTer25)
c.5074del (p.Ile1692PhefsTer25)
n.336-147587del
c.5062del (p.Ile1688PhefsTer25)
c.4717del (p.Ile1573PhefsTer25)
c.1063del (p.Ile355PhefsTer25)
c.4957del (p.Ile1653PhefsTer25)
Xg.32364650T>ACA327995224DMDc.5086A>T (p.Ile1696Phe)
c.1054A>T (p.Ile352Phe)
c.5074A>T (p.Ile1692Phe)
n.336-147587A>T
c.5062A>T (p.Ile1688Phe)
c.4717A>T (p.Ile1573Phe)
c.1063A>T (p.Ile355Phe)
c.4957A>T (p.Ile1653Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32364650T>CCA412671560DMDc.5086A>G (p.Ile1696Val)
c.1054A>G (p.Ile352Val)
c.5074A>G (p.Ile1692Val)
n.336-147587A>G
c.5062A>G (p.Ile1688Val)
c.4717A>G (p.Ile1573Val)
c.1063A>G (p.Ile355Val)
c.4957A>G (p.Ile1653Val)
Xg.32364650T>GCA412671561DMDc.5086A>C (p.Ile1696Leu)
c.1054A>C (p.Ile352Leu)
c.5074A>C (p.Ile1692Leu)
n.336-147587A>C
c.5062A>C (p.Ile1688Leu)
c.4717A>C (p.Ile1573Leu)
c.1063A>C (p.Ile355Leu)
c.4957A>C (p.Ile1653Leu)
Xg.32364650T=CA2422769921DMDc.5086A= (p.Ile1696=)
c.1054A= (p.Ile352=)
c.5074A= (p.Ile1692=)
n.336-147587A=
c.5062A= (p.Ile1688=)
c.4717A= (p.Ile1573=)
c.1063A= (p.Ile355=)
c.4957A= (p.Ile1653=)
Xg.32364651G>ACA515714718DMDc.5085C>T (p.Ile1695=)
c.1053C>T (p.Ile351=)
c.5073C>T (p.Ile1691=)
n.336-147588C>T
c.5061C>T (p.Ile1687=)
c.4716C>T (p.Ile1572=)
c.1062C>T (p.Ile354=)
c.4956C>T (p.Ile1652=)
 ClinVar
Xg.32364651G>CCA412671562DMDc.5085C>G (p.Ile1695Met)
c.1053C>G (p.Ile351Met)
c.5073C>G (p.Ile1691Met)
n.336-147588C>G
c.5061C>G (p.Ile1687Met)
c.4716C>G (p.Ile1572Met)
c.1062C>G (p.Ile354Met)
c.4956C>G (p.Ile1652Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32364651G=CA2422769922DMDc.5085C= (p.Ile1695=)
c.1053C= (p.Ile351=)
c.5073C= (p.Ile1691=)
n.336-147588C=
c.5061C= (p.Ile1687=)
c.4716C= (p.Ile1572=)
c.1062C= (p.Ile354=)
c.4956C= (p.Ile1652=)
Xg.32364651G>TCA515714719DMDc.5085C>A (p.Ile1695=)
c.1053C>A (p.Ile351=)
c.5073C>A (p.Ile1691=)
n.336-147588C>A
c.5061C>A (p.Ile1687=)
c.4716C>A (p.Ile1572=)
c.1062C>A (p.Ile354=)
c.4956C>A (p.Ile1652=)
Xg.32364652A=CA2422769923DMDc.5084T= (p.Ile1695=)
c.1052T= (p.Ile351=)
c.5072T= (p.Ile1691=)
n.336-147589T=
c.5060T= (p.Ile1687=)
c.4715T= (p.Ile1572=)
c.1061T= (p.Ile354=)
c.4955T= (p.Ile1652=)
Xg.32364652A>CCA412671563DMDc.5084T>G (p.Ile1695Ser)
c.1052T>G (p.Ile351Ser)
c.5072T>G (p.Ile1691Ser)
n.336-147589T>G
c.5060T>G (p.Ile1687Ser)
c.4715T>G (p.Ile1572Ser)
c.1061T>G (p.Ile354Ser)
c.4955T>G (p.Ile1652Ser)
Xg.32364652A>GCA412671564DMDc.5084T>C (p.Ile1695Thr)
c.1052T>C (p.Ile351Thr)
c.5072T>C (p.Ile1691Thr)
n.336-147589T>C
c.5060T>C (p.Ile1687Thr)
c.4715T>C (p.Ile1572Thr)
c.1061T>C (p.Ile354Thr)
c.4955T>C (p.Ile1652Thr)
Xg.32364652A>TCA412671565DMDc.5084T>A (p.Ile1695Asn)
c.1052T>A (p.Ile351Asn)
c.5072T>A (p.Ile1691Asn)
n.336-147589T>A
c.5060T>A (p.Ile1687Asn)
c.4715T>A (p.Ile1572Asn)
c.1061T>A (p.Ile354Asn)
c.4955T>A (p.Ile1652Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.32364653T>ACA412671566DMDc.5083A>T (p.Ile1695Phe)
c.1051A>T (p.Ile351Phe)
c.5071A>T (p.Ile1691Phe)
n.336-147590A>T
c.5059A>T (p.Ile1687Phe)
c.4714A>T (p.Ile1572Phe)
c.1060A>T (p.Ile354Phe)
c.4954A>T (p.Ile1652Phe)
Xg.32364653T>CCA412671567DMDc.5083A>G (p.Ile1695Val)
c.1051A>G (p.Ile351Val)
c.5071A>G (p.Ile1691Val)
n.336-147590A>G
c.5059A>G (p.Ile1687Val)
c.4714A>G (p.Ile1572Val)
c.1060A>G (p.Ile354Val)
c.4954A>G (p.Ile1652Val)
 gnomAD v4
Xg.32364653T>GCA412671568DMDc.5083A>C (p.Ile1695Leu)
c.1051A>C (p.Ile351Leu)
c.5071A>C (p.Ile1691Leu)
n.336-147590A>C
c.5059A>C (p.Ile1687Leu)
c.4714A>C (p.Ile1572Leu)
c.1060A>C (p.Ile354Leu)
c.4954A>C (p.Ile1652Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32364653T=CA2422769924DMDc.5083A= (p.Ile1695=)
c.1051A= (p.Ile351=)
c.5071A= (p.Ile1691=)
n.336-147590A=
c.5059A= (p.Ile1687=)
c.4714A= (p.Ile1572=)
c.1060A= (p.Ile354=)
c.4954A= (p.Ile1652=)
Xg.32364654C>ACA412671569DMDc.5082G>T (p.Trp1694Cys)
c.1050G>T (p.Trp350Cys)
c.5070G>T (p.Trp1690Cys)
n.336-147591G>T
c.5058G>T (p.Trp1686Cys)
c.4713G>T (p.Trp1571Cys)
c.1059G>T (p.Trp353Cys)
c.4953G>T (p.Trp1651Cys)
 ClinVar dbSNP gnomAD v4
Xg.32364654C=CA2422769925DMDc.5082G= (p.Trp1694=)
c.1050G= (p.Trp350=)
c.5070G= (p.Trp1690=)
n.336-147591G=
c.5058G= (p.Trp1686=)
c.4713G= (p.Trp1571=)
c.1059G= (p.Trp353=)
c.4953G= (p.Trp1651=)
Xg.32364654C>GCA412671570DMDc.5082G>C (p.Trp1694Cys)
c.1050G>C (p.Trp350Cys)
c.5070G>C (p.Trp1690Cys)
n.336-147591G>C
c.5058G>C (p.Trp1686Cys)
c.4713G>C (p.Trp1571Cys)
c.1059G>C (p.Trp353Cys)
c.4953G>C (p.Trp1651Cys)
Xg.32364654C>TCA412671571DMDc.5082G>A (p.Trp1694Ter)
c.1050G>A (p.Trp350Ter)
c.5070G>A (p.Trp1690Ter)
n.336-147591G>A
c.5058G>A (p.Trp1686Ter)
c.4713G>A (p.Trp1571Ter)
c.1059G>A (p.Trp353Ter)
c.4953G>A (p.Trp1651Ter)
 ClinVar dbSNP
Xg.32364655C>ACA412671574DMDc.5081G>T (p.Trp1694Leu)
c.1049G>T (p.Trp350Leu)
c.5069G>T (p.Trp1690Leu)
n.336-147592G>T
c.5057G>T (p.Trp1686Leu)
c.4712G>T (p.Trp1571Leu)
c.1058G>T (p.Trp353Leu)
c.4952G>T (p.Trp1651Leu)
Xg.32364655C>GCA412671573DMDc.5081G>C (p.Trp1694Ser)
c.1049G>C (p.Trp350Ser)
c.5069G>C (p.Trp1690Ser)
n.336-147592G>C
c.5057G>C (p.Trp1686Ser)
c.4712G>C (p.Trp1571Ser)
c.1058G>C (p.Trp353Ser)
c.4952G>C (p.Trp1651Ser)
Xg.32364655C>TCA412671572DMDc.5081G>A (p.Trp1694Ter)
c.1049G>A (p.Trp350Ter)
c.5069G>A (p.Trp1690Ter)
n.336-147592G>A
c.5057G>A (p.Trp1686Ter)
c.4712G>A (p.Trp1571Ter)
c.1058G>A (p.Trp353Ter)
c.4952G>A (p.Trp1651Ter)
 ClinVar

Number of alleles fetched