Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.25004891_25007522dupCA10575788ARXc.1120-82_1469dup
 ClinVar
Xg.25007047_25007050dupCA2579637271ARXc.1448+63_1448+66dup (n.1448+63_1448+66dup)
c.61+63_61+66dup
 gnomAD v4
Xg.25007048G>ACA874143122ARXc.1448+63C>T (n.1448+63C>T)
c.61+63C>T
 dbSNP gnomAD v4
Xg.25007048G=CA2420206965ARXc.1448+63C= (n.1448+63C=)
c.61+63C=
Xg.25007048G>TCA2579637272ARXc.1448+63C>A (n.1448+63C>A)
c.61+63C>A
 gnomAD v4
Xg.25007049C>ACA2693353115ARXc.1448+62G>T (n.1448+62G>T)
c.61+62G>T
 gnomAD v4
Xg.25007049C>TCA2579637274ARXc.1448+62G>A (n.1448+62G>A)
c.61+62G>A
Xg.25007053delCA2579637273ARXc.1448+62del (n.1448+62del)
c.61+62del
 gnomAD v4
Xg.25007050C>ACA2693353116ARXc.1448+61G>T (n.1448+61G>T)
c.61+61G>T
 gnomAD v4
Xg.25007050C>TCA2579637275ARXc.1448+61G>A (n.1448+61G>A)
c.61+61G>A
Xg.25007051C>ACA2531712673ARXc.1448+60G>T (n.1448+60G>T)
c.61+60G>T
Xg.25007051C=CA2420206966ARXc.1448+60G= (n.1448+60G=)
c.61+60G=
Xg.25007051C>GCA1131755535ARXc.1448+60G>C (n.1448+60G>C)
c.61+60G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.25007051C>TCA327732610ARXc.1448+60G>A (n.1448+60G>A)
c.61+60G>A
 dbSNP
Xg.25007052C>ACA2693353117ARXc.1448+59G>T (n.1448+59G>T)
c.61+59G>T
 gnomAD v4
Xg.25007052C>TCA2693353118ARXc.1448+59G>A (n.1448+59G>A)
c.61+59G>A
 gnomAD v4
Xg.25007055G>CCA2693353119ARXc.1448+56C>G (n.1448+56C>G)
c.61+56C>G
 gnomAD v4
Xg.25007055G>TCA2579637276ARXc.1448+56C>A (n.1448+56C>A)
c.61+56C>A
 gnomAD v4
Xg.25007056C>TCA2693353120ARXc.1448+55G>A (n.1448+55G>A)
c.61+55G>A
 gnomAD v4
Xg.25007057C>ACA2693353121ARXc.1448+54G>T (n.1448+54G>T)
c.61+54G>T
 gnomAD v4
Xg.25007058T>ACA874143126ARXc.1448+53A>T (n.1448+53A>T)
c.61+53A>T
 dbSNP
Xg.25007058T>CCA2693353122ARXc.1448+53A>G (n.1448+53A>G)
c.61+53A>G
 gnomAD v4
Xg.25007058T>GCA2693353123ARXc.1448+53A>C (n.1448+53A>C)
c.61+53A>C
 gnomAD v4
Xg.25007058T=CA2420206967ARXc.1448+53A= (n.1448+53A=)
c.61+53A=
Xg.25007059C>ACA2693353124ARXc.1448+52G>T (n.1448+52G>T)
c.61+52G>T
 gnomAD v4
Xg.25007059C>TCA2693353125ARXc.1448+52G>A (n.1448+52G>A)
c.61+52G>A
 gnomAD v4
Xg.25007059_25007061delinsCTGCA2420206968ARXc.1448+50_1448+52delinsCAG (n.1448+50_1448+52delinsCAG)
c.61+50_61+52delinsCAG
Xg.25007060T>CCA2420206970ARXc.1448+51A>G (n.1448+51A>G)
c.61+51A>G
 dbSNP gnomAD v4
Xg.25007060T=CA2420206969ARXc.1448+51A= (n.1448+51A=)
c.61+51A=
Xg.25007065_25007066delCA874143127ARXc.1448+50_1448+51del (n.1448+50_1448+51del)
c.61+50_61+51del
 dbSNP gnomAD v3 gnomAD v4
Xg.25007061G>ACA2693353126ARXc.1448+50C>T (n.1448+50C>T)
c.61+50C>T
 gnomAD v4
Xg.25007061G>TCA2693353127ARXc.1448+50C>A (n.1448+50C>A)
c.61+50C>A
 gnomAD v4
Xg.25007062T>CCA2741737894ARXc.1448+49A>G (n.1448+49A>G)
c.61+49A>G
Xg.25007062T>GCA2579637277ARXc.1448+49A>C (n.1448+49A>C)
c.61+49A>C
Xg.25007063G>TCA2693353128ARXc.1448+48C>A (n.1448+48C>A)
c.61+48C>A
 gnomAD v4
Xg.25007065G>ACA10373789ARXc.1448+46C>T (n.1448+46C>T)
c.61+46C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007065G=CA2420206971ARXc.1448+46C= (n.1448+46C=)
c.61+46C=
Xg.25007065G>TCA2693353129ARXc.1448+46C>A (n.1448+46C>A)
c.61+46C>A
 gnomAD v4
Xg.25007066T>ACA2693353130ARXc.1448+45A>T (n.1448+45A>T)
c.61+45A>T
 gnomAD v4
Xg.25007068T>GCA2693353131ARXc.1448+43A>C (n.1448+43A>C)
c.61+43A>C
 gnomAD v4
Xg.25007069G>TCA2693353132ARXc.1448+42C>A (n.1448+42C>A)
c.61+42C>A
 gnomAD v4
Xg.25007073_25007074delCA2579637278ARXc.1448+41_1448+42del (n.1448+41_1448+42del)
c.61+41_61+42del
Xg.25007070A>GCA2741737895ARXc.1448+41T>C (n.1448+41T>C)
c.61+41T>C
Xg.25007071G>ACA2579637279ARXc.1448+40C>T (n.1448+40C>T)
c.61+40C>T
Xg.25007071G>CCA2579637280ARXc.1448+40C>G (n.1448+40C>G)
c.61+40C>G
 gnomAD v4
Xg.25007071G>TCA2693353133ARXc.1448+40C>A (n.1448+40C>A)
c.61+40C>A
 gnomAD v4
Xg.25007071_25007075delinsGAGACCA2420206972ARXc.1448+36_1448+40delinsGTCTC (n.1448+36_1448+40delinsGTCTC)
c.61+36_61+40delinsGTCTC
Xg.25007088_25007091dupCA10373791ARXc.1448+36_1448+39dup (n.1448+36_1448+39dup)
c.61+36_61+39dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007088_25007091delCA10373790ARXc.1448+36_1448+39del (n.1448+36_1448+39del)
c.61+36_61+39del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007084_25007091delCA2579637282ARXc.1448+32_1448+39del (n.1448+32_1448+39del)
c.61+32_61+39del
 gnomAD v4
Xg.25007073G>TCA2693353134ARXc.1448+38C>A (n.1448+38C>A)
c.61+38C>A
 gnomAD v4
Xg.25007074A>GCA2693353135ARXc.1448+37T>C (n.1448+37T>C)
c.61+37T>C
 gnomAD v4
Xg.25007075C>ACA2693353136ARXc.1448+36G>T (n.1448+36G>T)
c.61+36G>T
 gnomAD v4
Xg.25007075C=CA2420206973ARXc.1448+36G= (n.1448+36G=)
c.61+36G=
Xg.25007075C>TCA2693353137ARXc.1448+36G>A (n.1448+36G>A)
c.61+36G>A
 gnomAD v4
Xg.25007076A=CA2420206974ARXc.1448+35T= (n.1448+35T=)
c.61+35T=
Xg.25007076A>GCA2693353138ARXc.1448+35T>C (n.1448+35T>C)
c.61+35T>C
 gnomAD v4
Xg.25007076A>TCA2693353139ARXc.1448+35T>A (n.1448+35T>A)
c.61+35T>A
 gnomAD v4
Xg.25007078_25007079insAAGACA641364590ARXc.1448+35_1448+36insTTCT (n.1448+35_1448+36insTTCT)
c.61+35_61+36insTTCT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007077G>TCA2693353140ARXc.1448+34C>A (n.1448+34C>A)
c.61+34C>A
 gnomAD v4
Xg.25007077_25007079dupCA10373792ARXc.1448+32_1448+34dup (n.1448+32_1448+34dup)
c.61+32_61+34dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007078A=CA2420206975ARXc.1448+33T= (n.1448+33T=)
c.61+33T=
Xg.25007078A>GCA2420206976ARXc.1448+33T>C (n.1448+33T>C)
c.61+33T>C
 dbSNP gnomAD v4
Xg.25007079C>ACA2420206977ARXc.1448+32G>T (n.1448+32G>T)
c.61+32G>T
 dbSNP
Xg.25007079C=CA2420206978ARXc.1448+32G= (n.1448+32G=)
c.61+32G=
Xg.25007079C>GCA10373793ARXc.1448+32G>C (n.1448+32G>C)
c.61+32G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007079C>TCA10373794ARXc.1448+32G>A (n.1448+32G>A)
c.61+32G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.25007080A>GCA2693353141ARXc.1448+31T>C (n.1448+31T>C)
c.61+31T>C
 gnomAD v4
Xg.25007081G>TCA2693353142ARXc.1448+30C>A (n.1448+30C>A)
c.61+30C>A
 gnomAD v4
Xg.25007082A>GCA2693353143ARXc.1448+29T>C (n.1448+29T>C)
c.61+29T>C
 gnomAD v4
Xg.25007083C>ACA641364591ARXc.1448+28G>T (n.1448+28G>T)
c.61+28G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007083C=CA2420206979ARXc.1448+28G= (n.1448+28G=)
c.61+28G=
Xg.25007083C>GCA2693353144ARXc.1448+28G>C (n.1448+28G>C)
c.61+28G>C
 gnomAD v4
Xg.25007083_25007085delinsCAGCA2420206980ARXc.1448+26_1448+28delinsCTG (n.1448+26_1448+28delinsCTG)
c.61+26_61+28delinsCTG
Xg.25007084A>GCA2693353145ARXc.1448+27T>C (n.1448+27T>C)
c.61+27T>C
 gnomAD v4
Xg.25007084A>TCA2693353146ARXc.1448+27T>A (n.1448+27T>A)
c.61+27T>A
 gnomAD v4
Xg.25007085_25007086delCA1131755550ARXc.1448+26_1448+27del (n.1448+26_1448+27del)
c.61+26_61+27del
 dbSNP gnomAD v3 gnomAD v4
Xg.25007085G>ACA2693353147ARXc.1448+26C>T (n.1448+26C>T)
c.61+26C>T
 gnomAD v4
Xg.25007085G>CCA874143144ARXc.1448+26C>G (n.1448+26C>G)
c.61+26C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.25007085G=CA2420206981ARXc.1448+26C= (n.1448+26C=)
c.61+26C=
Xg.25007085G>TCA2693353148ARXc.1448+26C>A (n.1448+26C>A)
c.61+26C>A
 gnomAD v4
Xg.25007087C>ACA2693353149ARXc.1448+24G>T (n.1448+24G>T)
c.61+24G>T
 gnomAD v4
Xg.25007087C=CA2420206982ARXc.1448+24G= (n.1448+24G=)
c.61+24G=
Xg.25007087C>TCA10373795ARXc.1448+24G>A (n.1448+24G>A)
c.61+24G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007088A=CA2420206983ARXc.1448+23T= (n.1448+23T=)
c.61+23T=
Xg.25007088A>CCA2693353150ARXc.1448+23T>G (n.1448+23T>G)
c.61+23T>G
 gnomAD v4
Xg.25007088A>GCA2420206984ARXc.1448+23T>C (n.1448+23T>C)
c.61+23T>C
 dbSNP
Xg.25007091_25007092insGGACCA10373796ARXc.1448+22_1448+23insCGTC (n.1448+22_1448+23insCGTC)
c.61+22_61+23insCGTC
 dbSNP ExAC gnomAD v2
Xg.25007091C>ACA2693353151ARXc.1448+20G>T (n.1448+20G>T)
c.61+20G>T
 gnomAD v4
Xg.25007091C=CA2420206985ARXc.1448+20G= (n.1448+20G=)
c.61+20G=
Xg.25007091C>TCA1131755555ARXc.1448+20G>A (n.1448+20G>A)
c.61+20G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.25007093delCA2740092065ARXc.1448+19del (n.1448+19del)
c.61+19del
 ClinVar
Xg.25007094C>GCA2579637285ARXc.1448+17G>C (n.1448+17G>C)
c.61+17G>C
Xg.25007095delCA2579637286ARXc.1448+17del (n.1448+17del)
c.61+17del
Xg.25007095C>ACA2693353152ARXc.1448+16G>T (n.1448+16G>T)
c.61+16G>T
 gnomAD v4
Xg.25007095C=CA2420206986ARXc.1448+16G= (n.1448+16G=)
c.61+16G=
Xg.25007095C>TCA10373797ARXc.1448+16G>A (n.1448+16G>A)
c.61+16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007096G>ACA2573158493ARXc.1448+15C>T (n.1448+15C>T)
c.61+15C>T
 ClinVar dbSNP gnomAD v4
Xg.25007096G>TCA2693353153ARXc.1448+15C>A (n.1448+15C>A)
c.61+15C>A
 gnomAD v4
Xg.25007097A=CA2420206987ARXc.1448+14T= (n.1448+14T=)
c.61+14T=
Xg.25007097A>GCA641364592ARXc.1448+14T>C (n.1448+14T>C)
c.61+14T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.25007098G>TCA2693353154ARXc.1448+13C>A (n.1448+13C>A)
c.61+13C>A
 gnomAD v4
Xg.25007099G>ACA641364593ARXc.1448+12C>T (n.1448+12C>T)
c.61+12C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.25007099G=CA2420206988ARXc.1448+12C= (n.1448+12C=)
c.61+12C=
Xg.25007100C>ACA10373798ARXc.1448+11G>T (n.1448+11G>T)
c.61+11G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.25007100C=CA2420206989ARXc.1448+11G= (n.1448+11G=)
c.61+11G=
Xg.25007100C>GCA2740092066ARXc.1448+11G>C (n.1448+11G>C)
c.61+11G>C
 ClinVar
Xg.25007100_25007101insATCA2545099482ARXc.1448+10_1448+11insAT (n.1448+10_1448+11insAT)
c.61+10_61+11insAT
 gnomAD v4
Xg.25007101T>CCA10373799ARXc.1448+10A>G (n.1448+10A>G)
c.61+10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.25007101T=CA2420206990ARXc.1448+10A= (n.1448+10A=)
c.61+10A=
Xg.25007102G=CA2420206991ARXc.1448+9C= (n.1448+9C=)
c.61+9C=
Xg.25007102G>TCA10373800ARXc.1448+9C>A (n.1448+9C>A)
c.61+9C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007102_25007104delCA2499226600ARXc.1448+7_1448+9del (n.1448+7_1448+9del)
c.61+7_61+9del
 ClinVar dbSNP gnomAD v4
Xg.25007103C=CA2420206992ARXc.1448+8G= (n.1448+8G=)
c.61+8G=
Xg.25007103C>TCA10373801ARXc.1448+8G>A (n.1448+8G>A)
c.61+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.25007104G>TCA2693353155ARXc.1448+7C>A (n.1448+7C>A)
c.61+7C>A
 gnomAD v4
Xg.25007105C>ACA2525601228ARXc.1448+6G>T (n.1448+6G>T)
c.61+6G>T
 gnomAD v4
Xg.25007105C=CA2420206993ARXc.1448+6G= (n.1448+6G=)
c.61+6G=
Xg.25007105C>TCA641364594ARXc.1448+6G>A (n.1448+6G>A)
c.61+6G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.25007106G>ACA1131755564ARXc.1448+5C>T (n.1448+5C>T)
c.61+5C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.25007106G>CCA2420206995ARXc.1448+5C>G (n.1448+5C>G)
c.61+5C>G
 dbSNP
Xg.25007106G=CA2420206994ARXc.1448+5C= (n.1448+5C=)
c.61+5C=
Xg.25007109A=CA2420206996ARXc.1448+2T= (n.1448+2T=)
c.61+2T=
Xg.25007109A>CCA412610988ARXc.1448+2T>G (n.1448+2T>G)
c.61+2T>G
Xg.25007109A>GCA412610989ARXc.1448+2T>C (n.1448+2T>C)
c.61+2T>C
Xg.25007109A>TCA412610990ARXc.1448+2T>A (n.1448+2T>A)
c.61+2T>A
Xg.25007110C>ACA412610991ARXc.1448+1G>T (n.1448+1G>T)
c.61+1G>T
Xg.25007110C>GCA412610993ARXc.1448+1G>C (n.1448+1G>C)
c.61+1G>C
Xg.25007110C>TCA412610992ARXc.1448+1G>A (n.1448+1G>A)
c.61+1G>A
Xg.25007112_25007115dupCA915950802ARXc.1446_1448+1dup
c.59_61+1dup
 ClinVar dbSNP
Xg.25007111C>ACA412610994ARXc.1448G>T (p.Arg483Met)
c.61G>T
Xg.25007111C=CA2420206997ARXc.1448G= (p.Arg483=)
c.61G=
Xg.25007111C>GCA412610995ARXc.1448G>C (p.Arg483Thr)
c.61G>C
 ClinVar
Xg.25007111C>TCA171145ARXc.1448G>A (p.Arg483Lys)
c.61G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.25007112T>ACA412610996ARXc.1447A>T (p.Arg483Trp)
c.60A>T
Xg.25007112T>CCA412610997ARXc.1447A>G (p.Arg483Gly)
c.60A>G
Xg.25007112T>GCA515946935ARXc.1447A>C (p.Arg483=)
c.60A>C
Xg.25007117_25007123dupCA2695232853ARXc.1441_1447dup (p.Arg483IlefsTer?)
c.54_60dup
Xg.25007113G>ACA515946936ARXc.1446C>T (p.Gly482=)
c.59C>T
 gnomAD v4
Xg.25007113G>CCA515946937ARXc.1446C>G (p.Gly482=)
c.59C>G
 ClinVar gnomAD v4
Xg.25007113G>TCA515946938ARXc.1446C>A (p.Gly482=)
c.59C>A
 gnomAD v4
Xg.25007115_25007136delCA2695232854ARXc.1425_1446del (p.Phe476GlyfsTer9)
c.38_59del
Xg.25007114C>ACA412610998ARXc.1445G>T (p.Gly482Val)
c.58G>T
Xg.25007114C>GCA412610999ARXc.1445G>C (p.Gly482Ala)
c.58G>C
Xg.25007114C>TCA412611000ARXc.1445G>A (p.Gly482Asp)
c.58G>A
 gnomAD v4
Xg.25007115C>ACA412611001ARXc.1444G>T (p.Gly482Cys)
c.57G>T
 gnomAD v4
Xg.25007115C=CA2420206998ARXc.1444G= (p.Gly482=)
c.57G=
Xg.25007115C>GCA412611002ARXc.1444G>C (p.Gly482Arg)
c.57G>C
 dbSNP
Xg.25007115C>TCA412611003ARXc.1444G>A (p.Gly482Ser)
c.57G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.25007116G>ACA10373802ARXc.1443C>T (p.Phe481=)
c.56C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.25007116G>CCA412611005ARXc.1443C>G (p.Phe481Leu)
c.56C>G
Xg.25007116G=CA2420206999ARXc.1443C= (p.Phe481=)
c.56C=
Xg.25007116G>TCA412611004ARXc.1443C>A (p.Phe481Leu)
c.56C>A
 gnomAD v4
Xg.25007116dupCA2499226601ARXc.1443dup (p.Gly482ArgfsTer?)
c.56dup
 ClinVar dbSNP
Xg.25007117A=CA2420207000ARXc.1442T= (p.Phe481=)
c.55T=
Xg.25007117A>CCA412611006ARXc.1442T>G (p.Phe481Cys)
c.55T>G
Xg.25007117A>GCA327732611ARXc.1442T>C (p.Phe481Ser)
c.55T>C
 dbSNP
Xg.25007117A>TCA412611007ARXc.1442T>A (p.Phe481Tyr)
c.55T>A
Xg.25007118A>CCA412611008ARXc.1441T>G (p.Phe481Val)
c.54T>G
Xg.25007118A>GCA412611009ARXc.1441T>C (p.Phe481Leu)
c.54T>C
Xg.25007118A>TCA412611010ARXc.1441T>A (p.Phe481Ile)
c.54T>A
Xg.25007119T>ACA515946939ARXc.1440A>T (p.Ala480=)
c.53A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.25007119T>CCA515946940ARXc.1440A>G (p.Ala480=)
c.53A>G
Xg.25007119T>GCA515946941ARXc.1440A>C (p.Ala480=)
c.53A>C
 gnomAD v4
Xg.25007119T=CA2420207001ARXc.1440A= (p.Ala480=)
c.53A=
Xg.25007120G>ACA412611011ARXc.1439C>T (p.Ala480Val)
c.52C>T
Xg.25007120G>CCA412611012ARXc.1439C>G (p.Ala480Gly)
c.52C>G
 gnomAD v4
Xg.25007120G>TCA412611013ARXc.1439C>A (p.Ala480Glu)
c.52C>A
Xg.25007121C>ACA412611014ARXc.1438G>T (p.Ala480Ser)
c.51G>T
 gnomAD v4
Xg.25007121C=CA2420207002ARXc.1438G= (p.Ala480=)
c.51G=
Xg.25007121C>GCA412611015ARXc.1438G>C (p.Ala480Pro)
c.51G>C
Xg.25007121C>TCA412611016ARXc.1438G>A (p.Ala480Thr)
c.51G>A
 dbSNP gnomAD v4
Xg.25007122C>ACA515946942ARXc.1437G>T (p.Pro479=)
c.50G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.25007122C=CA2420207003ARXc.1437G= (p.Pro479=)
c.50G=
Xg.25007122C>GCA515946943ARXc.1437G>C (p.Pro479=)
c.50G>C
Xg.25007122C>TCA515946944ARXc.1437G>A (p.Pro479=)
c.50G>A
 gnomAD v4
Xg.25007123G>ACA412611019ARXc.1436C>T (p.Pro479Leu)
c.49C>T
 gnomAD v4
Xg.25007123G>CCA412611017ARXc.1436C>G (p.Pro479Arg)
c.49C>G
 dbSNP
Xg.25007123G=CA2420207004ARXc.1436C= (p.Pro479=)
c.49C=
Xg.25007123G>TCA412611018ARXc.1436C>A (p.Pro479Gln)
c.49C>A
Xg.25007124G>ACA412611020ARXc.1435C>T (p.Pro479Ser)
c.48C>T
Xg.25007124G>CCA412611021ARXc.1435C>G (p.Pro479Ala)
c.48C>G
Xg.25007124G>TCA412611022ARXc.1435C>A (p.Pro479Thr)
c.48C>A
 gnomAD v4
Xg.25007125G>ACA515946945ARXc.1434C>T (p.Ser478=)
c.47C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.25007125G>CCA412611023ARXc.1434C>G (p.Ser478Arg)
c.47C>G
Xg.25007125G=CA2420207005ARXc.1434C= (p.Ser478=)
c.47C=
Xg.25007125G>TCA412611024ARXc.1434C>A (p.Ser478Arg)
c.47C>A
 gnomAD v4 COSMIC
Xg.25007126C>ACA412611025ARXc.1433G>T (p.Ser478Ile)
c.46G>T
 gnomAD v4
Xg.25007126C>GCA412611026ARXc.1433G>C (p.Ser478Thr)
c.46G>C
Xg.25007126C>TCA412611027ARXc.1433G>A (p.Ser478Asn)
c.46G>A
 gnomAD v4
Xg.25007127T>ACA412611028ARXc.1432A>T (p.Ser478Cys)
c.45A>T
Xg.25007127T>CCA412611029ARXc.1432A>G (p.Ser478Gly)
c.45A>G
 gnomAD v4
Xg.25007127T>GCA412611030ARXc.1432A>C (p.Ser478Arg)
c.45A>C
 gnomAD v4
Xg.25007128G>ACA515946946ARXc.1431C>T (p.Ile477=)
c.44C>T
 dbSNP
Xg.25007128G>CCA412611031ARXc.1431C>G (p.Ile477Met)
c.44C>G
Xg.25007128G=CA2420207006ARXc.1431C= (p.Ile477=)
c.44C=
Xg.25007128G>TCA515946947ARXc.1431C>A (p.Ile477=)
c.44C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.25007129delCA2580100519ARXc.1430del (p.Ile477ThrfsTer15)
c.43del
 ClinVar
Xg.25007129A=CA2420207007ARXc.1430T= (p.Ile477=)
c.43T=
Xg.25007129A>CCA412611033ARXc.1430T>G (p.Ile477Ser)
c.43T>G
 dbSNP
Xg.25007129A>GCA412611034ARXc.1430T>C (p.Ile477Thr)
c.43T>C
Xg.25007129A>TCA412611032ARXc.1430T>A (p.Ile477Asn)
c.43T>A
Xg.25007130T>ACA412611036ARXc.1429A>T (p.Ile477Phe)
c.42A>T
Xg.25007130T>CCA412611035ARXc.1429A>G (p.Ile477Val)
c.42A>G
 dbSNP
Xg.25007130T>GCA412611037ARXc.1429A>C (p.Ile477Leu)
c.42A>C
Xg.25007130T=CA2420207009ARXc.1429A= (p.Ile477=)
c.42A=
Xg.25007130_25007145delinsTGAAAGCTGGGTGTCGCA2420207008ARXc.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=)
c.27_42delinsCGACACCCAGCTTTCA
Xg.25007131G>ACA515946948ARXc.1428C>T (p.Phe476=)
c.41C>T
 ClinVar
Xg.25007131G>CCA412611038ARXc.1428C>G (p.Phe476Leu)
c.41C>G
Xg.25007131G>TCA412611039ARXc.1428C>A (p.Phe476Leu)
c.41C>A
Xg.25007131_25007132delinsTTCA2695232855ARXc.1427_1428delinsAA (p.Phe476Ter)
c.40_41delinsAA
Xg.25007134_25007148delCA915950803ARXc.1414_1428del (p.Arg472_Phe476del)
c.27_41del
 ClinVar dbSNP
Xg.25007132A>CCA412611040ARXc.1427T>G (p.Phe476Cys)
c.40T>G
Xg.25007132A>GCA412611041ARXc.1427T>C (p.Phe476Ser)
c.40T>C
 gnomAD v4
Xg.25007132A>TCA412611042ARXc.1427T>A (p.Phe476Tyr)
c.40T>A
Xg.25007133A>CCA412611043ARXc.1426T>G (p.Phe476Val)
c.39T>G
Xg.25007133A>GCA412611044ARXc.1426T>C (p.Phe476Leu)
c.39T>C
Xg.25007133A>TCA412611045ARXc.1426T>A (p.Phe476Ile)
c.39T>A
Xg.25007134A>CCA515946949ARXc.1425T>G (p.Ala475=)
c.38T>G
Xg.25007134A>GCA515946950ARXc.1425T>C (p.Ala475=)
c.38T>C
 ClinVar dbSNP
Xg.25007134A>TCA515946951ARXc.1425T>A (p.Ala475=)
c.38T>A
Xg.25007135G>ACA412611046ARXc.1424C>T (p.Ala475Val)
c.37C>T
Xg.25007135G>CCA412611047ARXc.1424C>G (p.Ala475Gly)
c.37C>G
Xg.25007135G>TCA412611048ARXc.1424C>A (p.Ala475Asp)
c.37C>A
 gnomAD v4
Xg.25007136C>ACA412611051ARXc.1423G>T (p.Ala475Ser)
c.36G>T
Xg.25007136C>GCA412611049ARXc.1423G>C (p.Ala475Pro)
c.36G>C
Xg.25007136C>TCA412611050ARXc.1423G>A (p.Ala475Thr)
c.36G>A
Xg.25007137T>ACA515946952ARXc.1422A>T (p.Pro474=)
c.35A>T
Xg.25007137T>CCA515946954ARXc.1422A>G (p.Pro474=)
c.35A>G
Xg.25007137T>GCA515946953ARXc.1422A>C (p.Pro474=)
c.35A>C
Xg.25007138G>ACA412611052ARXc.1421C>T (p.Pro474Leu)
c.34C>T
 gnomAD v4
Xg.25007138G>CCA412611053ARXc.1421C>G (p.Pro474Arg)
c.34C>G
Xg.25007138G>TCA412611054ARXc.1421C>A (p.Pro474Gln)
c.34C>A
 gnomAD v4
Xg.25007139G>ACA412611055ARXc.1420C>T (p.Pro474Ser)
c.33C>T
Xg.25007139G>CCA412611056ARXc.1420C>G (p.Pro474Ala)
c.33C>G
Xg.25007139G>TCA412611057ARXc.1420C>A (p.Pro474Thr)
c.33C>A
 gnomAD v4
Xg.25007141_25007146delCA2693353156ARXc.1415_1420del (p.Arg472_His473del)
c.28_33del
 gnomAD v4
Xg.25007140G>ACA515946955ARXc.1419C>T (p.His473=)
c.32C>T
 gnomAD v4
Xg.25007140G>CCA412611058ARXc.1419C>G (p.His473Gln)
c.32C>G
Xg.25007140G>TCA412611059ARXc.1419C>A (p.His473Gln)
c.32C>A
 gnomAD v4
Xg.25007142_25007143dupCA2695232856ARXc.1418_1419dup (p.Pro474ThrfsTer19)
c.31_32dup
Xg.25007141T>ACA412611060ARXc.1418A>T (p.His473Leu)
c.31A>T
Xg.25007141T>CCA412611061ARXc.1418A>G (p.His473Arg)
c.31A>G
Xg.25007141T>GCA412611062ARXc.1418A>C (p.His473Pro)
c.31A>C
Xg.25007142G>ACA412611064ARXc.1417C>T (p.His473Tyr)
c.30C>T
Xg.25007142G>CCA412611065ARXc.1417C>G (p.His473Asp)
c.30C>G
Xg.25007142G>TCA412611063ARXc.1417C>A (p.His473Asn)
c.30C>A
 gnomAD v4 COSMIC
Xg.25007143T>ACA515946956ARXc.1416A>T (p.Arg472=)
c.29A>T
Xg.25007143T>CCA515946957ARXc.1416A>G (p.Arg472=)
c.29A>G
Xg.25007143T>GCA515946958ARXc.1416A>C (p.Arg472=)
c.29A>C
Xg.25007144C>ACA412611066ARXc.1415G>T (p.Arg472Leu)
c.28G>T
 gnomAD v4
Xg.25007144C>GCA412611067ARXc.1415G>C (p.Arg472Pro)
c.28G>C
Xg.25007144C>TCA412611068ARXc.1415G>A (p.Arg472Gln)
c.28G>A
 gnomAD v4
Xg.25007145_25007154delCA2499226602ARXc.1406_1415del (p.Ala469AspfsTer20)
c.19_28del
 ClinVar dbSNP
Xg.25007145G>ACA213233ARXc.1414C>T (p.Arg472Ter)
c.27C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.25007145G>CCA412611069ARXc.1414C>G (p.Arg472Gly)
c.27C>G
Xg.25007145G=CA2420207010ARXc.1414C= (p.Arg472=)
c.27C=
Xg.25007145G>TCA515946959ARXc.1414C>A (p.Arg472=)
c.27C>A
 gnomAD v4
Xg.25007146G>ACA515946960ARXc.1413C>T (p.Phe471=)
c.26C>T
 gnomAD v3 gnomAD v4
Xg.25007146G>CCA412611070ARXc.1413C>G (p.Phe471Leu)
c.26C>G
Xg.25007146G>TCA412611071ARXc.1413C>A (p.Phe471Leu)
c.26C>A
Xg.25007147A>CCA412611072ARXc.1412T>G (p.Phe471Cys)
c.25T>G
Xg.25007147A>GCA412611073ARXc.1412T>C (p.Phe471Ser)
c.25T>C
Xg.25007147A>TCA412611074ARXc.1412T>A (p.Phe471Tyr)
c.25T>A
Xg.25007148A=CA2420207011ARXc.1411T= (p.Phe471=)
c.24T=
Xg.25007148A>CCA412611075ARXc.1411T>G (p.Phe471Val)
c.24T>G
Xg.25007148A>GCA412611076ARXc.1411T>C (p.Phe471Leu)
c.24T>C
 dbSNP gnomAD v2
Xg.25007148A>TCA412611077ARXc.1411T>A (p.Phe471Ile)
c.24T>A

Number of alleles fetched