Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574660G>ACA2579596701SYN1c.1393+28C>T (n.1393+28C>T)
c.70+28C>T (n.70+28C>T)
Xg.47574660G>CCA2427971374SYN1c.1393+28C>G (n.1393+28C>G)
c.70+28C>G (n.70+28C>G)
 dbSNP
Xg.47574660G=CA2427971373SYN1c.1393+28C= (n.1393+28C=)
c.70+28C= (n.70+28C=)
Xg.47574660G>TCA2693585297SYN1c.1393+28C>A (n.1393+28C>A)
c.70+28C>A (n.70+28C>A)
 gnomAD v4
Xg.47574661G>TCA2693585298SYN1c.1393+27C>A (n.1393+27C>A)
c.70+27C>A (n.70+27C>A)
 gnomAD v4
Xg.47574663C>TCA2579596702SYN1c.1393+25G>A (n.1393+25G>A)
c.70+25G>A (n.70+25G>A)
Xg.47574664T>ACA2693585299SYN1c.1393+24A>T (n.1393+24A>T)
c.70+24A>T (n.70+24A>T)
 gnomAD v4
Xg.47574664T>CCA2693585300SYN1c.1393+24A>G (n.1393+24A>G)
c.70+24A>G (n.70+24A>G)
 gnomAD v4
Xg.47574665G>ACA2536081315SYN1c.1393+23C>T (n.1393+23C>T)
c.70+23C>T (n.70+23C>T)
 gnomAD v4
Xg.47574665G>TCA2579596703SYN1c.1393+23C>A (n.1393+23C>A)
c.70+23C>A (n.70+23C>A)
 gnomAD v4
Xg.47574666_47574667delCA2579596704SYN1c.1393+22_1393+23del (n.1393+22_1393+23del)
c.70+22_70+23del (n.70+22_70+23del)
Xg.47574666C=CA2427971375SYN1c.1393+22G= (n.1393+22G=)
c.70+22G= (n.70+22G=)
Xg.47574666C>GCA2693585301SYN1c.1393+22G>C (n.1393+22G>C)
c.70+22G>C (n.70+22G>C)
 gnomAD v4
Xg.47574666C>TCA10398358SYN1c.1393+22G>A (n.1393+22G>A)
c.70+22G>A (n.70+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574667G>ACA2693585302SYN1c.1393+21C>T (n.1393+21C>T)
c.70+21C>T (n.70+21C>T)
 gnomAD v4
Xg.47574667G>TCA2566158300SYN1c.1393+21C>A (n.1393+21C>A)
c.70+21C>A (n.70+21C>A)
 gnomAD v4
Xg.47574668A=CA2427971376SYN1c.1393+20T= (n.1393+20T=)
c.70+20T= (n.70+20T=)
Xg.47574668A>CCA329057446SYN1c.1393+20T>G (n.1393+20T>G)
c.70+20T>G (n.70+20T>G)
 dbSNP
Xg.47574669C>ACA2693585303SYN1c.1393+19G>T (n.1393+19G>T)
c.70+19G>T (n.70+19G>T)
 gnomAD v4
Xg.47574670C>ACA641900903SYN1c.1393+18G>T (n.1393+18G>T)
c.70+18G>T (n.70+18G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574670C=CA2427971377SYN1c.1393+18G= (n.1393+18G=)
c.70+18G= (n.70+18G=)
Xg.47574670C>TCA2579596705SYN1c.1393+18G>A (n.1393+18G>A)
c.70+18G>A (n.70+18G>A)
 gnomAD v4
Xg.47574671G>ACA10398359SYN1c.1393+17C>T (n.1393+17C>T)
c.70+17C>T (n.70+17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574671G=CA2427971378SYN1c.1393+17C= (n.1393+17C=)
c.70+17C= (n.70+17C=)
Xg.47574671G>TCA2579596706SYN1c.1393+17C>A (n.1393+17C>A)
c.70+17C>A (n.70+17C>A)
 gnomAD v4
Xg.47574672C>ACA2693585304SYN1c.1393+16G>T (n.1393+16G>T)
c.70+16G>T (n.70+16G>T)
 gnomAD v4
Xg.47574673C>ACA2693585305SYN1c.1393+15G>T (n.1393+15G>T)
c.70+15G>T (n.70+15G>T)
 gnomAD v4
Xg.47574673C=CA2427971379SYN1c.1393+15G= (n.1393+15G=)
c.70+15G= (n.70+15G=)
Xg.47574673C>TCA641900904SYN1c.1393+15G>A (n.1393+15G>A)
c.70+15G>A (n.70+15G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574674A>TCA2579596707SYN1c.1393+14T>A (n.1393+14T>A)
c.70+14T>A (n.70+14T>A)
 gnomAD v4
Xg.47574675G>CCA2693585306SYN1c.1393+13C>G (n.1393+13C>G)
c.70+13C>G (n.70+13C>G)
 gnomAD v4
Xg.47574675G>TCA2693585307SYN1c.1393+13C>A (n.1393+13C>A)
c.70+13C>A (n.70+13C>A)
 gnomAD v4
Xg.47574676C>ACA2693585308SYN1c.1393+12G>T (n.1393+12G>T)
c.70+12G>T (n.70+12G>T)
 gnomAD v4
Xg.47574676C>TCA2693585309SYN1c.1393+12G>A (n.1393+12G>A)
c.70+12G>A (n.70+12G>A)
 gnomAD v4
Xg.47574677C>TCA2579596708SYN1c.1393+11G>A (n.1393+11G>A)
c.70+11G>A (n.70+11G>A)
Xg.47574678T>CCA875820263SYN1c.1393+10A>G (n.1393+10A>G)
c.70+10A>G (n.70+10A>G)
 dbSNP
Xg.47574678T=CA2427971380SYN1c.1393+10A= (n.1393+10A=)
c.70+10A= (n.70+10A=)
Xg.47574679C>ACA2693585310SYN1c.1393+9G>T (n.1393+9G>T)
c.70+9G>T (n.70+9G>T)
 gnomAD v4
Xg.47574680T>ACA2693585311SYN1c.1393+8A>T (n.1393+8A>T)
c.70+8A>T (n.70+8A>T)
 gnomAD v4
Xg.47574681C>ACA2693585312SYN1c.1393+7G>T (n.1393+7G>T)
c.70+7G>T (n.70+7G>T)
 gnomAD v4
Xg.47574681C=CA2427971381SYN1c.1393+7G= (n.1393+7G=)
c.70+7G= (n.70+7G=)
Xg.47574681C>GCA641900905SYN1c.1393+7G>C (n.1393+7G>C)
c.70+7G>C (n.70+7G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574682G>ACA641900906SYN1c.1393+6C>T (n.1393+6C>T)
c.70+6C>T (n.70+6C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574682G=CA2427971382SYN1c.1393+6C= (n.1393+6C=)
c.70+6C= (n.70+6C=)
Xg.47574682G>TCA2579596709SYN1c.1393+6C>A (n.1393+6C>A)
c.70+6C>A (n.70+6C>A)
 gnomAD v4
Xg.47574683C>ACA2693585313SYN1c.1393+5G>T (n.1393+5G>T)
c.70+5G>T (n.70+5G>T)
 gnomAD v4
Xg.47574684T>GCA2820775729SYN1c.1393+4A>C (n.1393+4A>C)
c.70+4A>C (n.70+4A>C)
Xg.47574686delCA2579596710SYN1c.1393+2del (n.1393+2del)
c.70+2del (n.70+2del)
Xg.47574686A>CCA412824390SYN1c.1393+2T>G (n.1393+2T>G)
c.70+2T>G (n.70+2T>G)
Xg.47574686A>GCA412824388SYN1c.1393+2T>C (n.1393+2T>C)
c.70+2T>C (n.70+2T>C)
Xg.47574686A>TCA412824377SYN1c.1393+2T>A (n.1393+2T>A)
c.70+2T>A (n.70+2T>A)
Xg.47574687C>ACA412824399SYN1c.1393+1G>T (n.1393+1G>T)
c.70+1G>T (n.70+1G>T)
Xg.47574687C>GCA412824394SYN1c.1393+1G>C (n.1393+1G>C)
c.70+1G>C (n.70+1G>C)
Xg.47574687C>TCA412824397SYN1c.1393+1G>A (n.1393+1G>A)
c.70+1G>A (n.70+1G>A)
Xg.47574688C>ACA412824403SYN1c.1393G>T (p.Gly465Cys)
c.70G>T (p.Glu24Ter)
 gnomAD v4
Xg.47574688C>GCA412824407SYN1c.1393G>C (p.Gly465Arg)
c.70G>C (p.Glu24Gln)
Xg.47574688C>TCA412824409SYN1c.1393G>A (p.Gly465Ser)
c.70G>A (p.Glu24Lys)
 gnomAD v4
Xg.47574689C>ACA412824413SYN1c.1392G>T (p.Gln464His)
c.69G>T (p.Gln23His)
 gnomAD v4
Xg.47574689C>GCA412824415SYN1c.1392G>C (p.Gln464His)
c.69G>C (p.Gln23His)
Xg.47574689C>TCA515991206SYN1c.1392G>A (p.Gln464=)
c.69G>A (p.Gln23=)
Xg.47574690T>ACA412824418SYN1c.1391A>T (p.Gln464Leu)
c.68A>T (p.Gln23Leu)
Xg.47574690T>CCA412824420SYN1c.1391A>G (p.Gln464Arg)
c.68A>G (p.Gln23Arg)
 gnomAD v4
Xg.47574690T>GCA412824422SYN1c.1391A>C (p.Gln464Pro)
c.68A>C (p.Gln23Pro)
 gnomAD v4
Xg.47574691G>ACA412824426SYN1c.1390C>T (p.Gln464Ter)
c.67C>T (p.Gln23Ter)
 dbSNP gnomAD v4
Xg.47574691G>CCA412824427SYN1c.1390C>G (p.Gln464Glu)
c.67C>G (p.Gln23Glu)
Xg.47574691G=CA2427971383SYN1c.1390C= (p.Gln464=)
c.67C= (p.Gln23=)
Xg.47574691G>TCA412824430SYN1c.1390C>A (p.Gln464Lys)
c.67C>A (p.Gln23Lys)
Xg.47574692T>ACA515991209SYN1c.1389A>T (p.Pro463=)
c.66A>T (p.Pro22=)
Xg.47574692T>CCA515991210SYN1c.1389A>G (p.Pro463=)
c.66A>G (p.Pro22=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574692T>GCA515991211SYN1c.1389A>C (p.Pro463=)
c.66A>C (p.Pro22=)
 ClinVar dbSNP
Xg.47574692T=CA2427971384SYN1c.1389A= (p.Pro463=)
c.66A= (p.Pro22=)
Xg.47574693G>ACA412824435SYN1c.1388C>T (p.Pro463Leu)
c.65C>T (p.Pro22Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574693G>CCA412824432SYN1c.1388C>G (p.Pro463Arg)
c.65C>G (p.Pro22Arg)
 gnomAD v4
Xg.47574693G=CA2427971385SYN1c.1388C= (p.Pro463=)
c.65C= (p.Pro22=)
Xg.47574693G>TCA412824433SYN1c.1388C>A (p.Pro463Gln)
c.65C>A (p.Pro22Gln)
 gnomAD v4
Xg.47574694G>ACA412824440SYN1c.1387C>T (p.Pro463Ser)
c.64C>T (p.Pro22Ser)
 gnomAD v4
Xg.47574694G>CCA412824443SYN1c.1387C>G (p.Pro463Ala)
c.64C>G (p.Pro22Ala)
Xg.47574694G>TCA412824445SYN1c.1387C>A (p.Pro463Thr)
c.64C>A (p.Pro22Thr)
 gnomAD v4
Xg.47574695T>ACA515991215SYN1c.1386A>T (p.Pro462=)
c.63A>T (p.Pro21=)
Xg.47574695T>CCA515991214SYN1c.1386A>G (p.Pro462=)
c.63A>G (p.Pro21=)
Xg.47574695T>GCA515991213SYN1c.1386A>C (p.Pro462=)
c.63A>C (p.Pro21=)
Xg.47574696G>ACA412824447SYN1c.1385C>T (p.Pro462Leu)
c.62C>T (p.Pro21Leu)
Xg.47574696G>CCA412824450SYN1c.1385C>G (p.Pro462Arg)
c.62C>G (p.Pro21Arg)
Xg.47574696G>TCA412824453SYN1c.1385C>A (p.Pro462Gln)
c.62C>A (p.Pro21Gln)
 gnomAD v4
Xg.47574700dupCA2573158863SYN1c.1385dup (p.Pro463ThrfsTer?)
c.62dup (p.Pro22ThrfsTer12)
 ClinVar dbSNP
Xg.47574697G>ACA412824456SYN1c.1384C>T (p.Pro462Ser)
c.61C>T (p.Pro21Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574697G>CCA412824459SYN1c.1384C>G (p.Pro462Ala)
c.61C>G (p.Pro21Ala)
Xg.47574697G=CA2427971386SYN1c.1384C= (p.Pro462=)
c.61C= (p.Pro21=)
Xg.47574697G>TCA412824463SYN1c.1384C>A (p.Pro462Thr)
c.61C>A (p.Pro21Thr)
 gnomAD v4
Xg.47574698G>ACA515991220SYN1c.1383C>T (p.Pro461=)
c.60C>T (p.Pro20=)
Xg.47574698G>CCA515991221SYN1c.1383C>G (p.Pro461=)
c.60C>G (p.Pro20=)
Xg.47574698G>TCA515991223SYN1c.1383C>A (p.Pro461=)
c.60C>A (p.Pro20=)
 ClinVar gnomAD v4
Xg.47574699G>ACA412824466SYN1c.1382C>T (p.Pro461Leu)
c.59C>T (p.Pro20Leu)
 gnomAD v4
Xg.47574699G>CCA412824469SYN1c.1382C>G (p.Pro461Arg)
c.59C>G (p.Pro20Arg)
Xg.47574699G>TCA412824472SYN1c.1382C>A (p.Pro461His)
c.59C>A (p.Pro20His)
 gnomAD v4
Xg.47574700G>ACA412824476SYN1c.1381C>T (p.Pro461Ser)
c.58C>T (p.Pro20Ser)
 gnomAD v4
Xg.47574700G>CCA412824478SYN1c.1381C>G (p.Pro461Ala)
c.58C>G (p.Pro20Ala)
Xg.47574700G>TCA412824473SYN1c.1381C>A (p.Pro461Thr)
c.58C>A (p.Pro20Thr)
 gnomAD v4
Xg.47574701T>ACA515991226SYN1c.1380A>T (p.Arg460=)
c.57A>T (p.Arg19=)
 ClinVar dbSNP
Xg.47574701T>CCA515991224SYN1c.1380A>G (p.Arg460=)
c.57A>G (p.Arg19=)
Xg.47574701T>GCA515991225SYN1c.1380A>C (p.Arg460=)
c.57A>C (p.Arg19=)
Xg.47574702C>ACA412824482SYN1c.1379G>T (p.Arg460Leu)
c.56G>T (p.Arg19Leu)
 gnomAD v4
Xg.47574702C=CA2427971387SYN1c.1379G= (p.Arg460=)
c.56G= (p.Arg19=)
Xg.47574702C>GCA412824483SYN1c.1379G>C (p.Arg460Pro)
c.56G>C (p.Arg19Pro)
Xg.47574702C>TCA412824486SYN1c.1379G>A (p.Arg460Gln)
c.56G>A (p.Arg19Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574703G>ACA412824487SYN1c.1378C>T (p.Arg460Ter)
c.55C>T (p.Arg19Ter)
 gnomAD v4
Xg.47574703G>CCA412824491SYN1c.1378C>G (p.Arg460Gly)
c.55C>G (p.Arg19Gly)
Xg.47574703G>TCA515991228SYN1c.1378C>A (p.Arg460=)
c.55C>A (p.Arg19=)
Xg.47574704C>ACA412824495SYN1c.1377G>T (p.Gln459His)
c.54G>T (p.Gln18His)
 gnomAD v4
Xg.47574704C>GCA412824498SYN1c.1377G>C (p.Gln459His)
c.54G>C (p.Gln18His)
Xg.47574704C>TCA515991230SYN1c.1377G>A (p.Gln459=)
c.54G>A (p.Gln18=)
 gnomAD v4
Xg.47574705T>ACA412824504SYN1c.1376A>T (p.Gln459Leu)
c.53A>T (p.Gln18Leu)
Xg.47574705T>CCA412824500SYN1c.1376A>G (p.Gln459Arg)
c.53A>G (p.Gln18Arg)
Xg.47574705T>GCA412824503SYN1c.1376A>C (p.Gln459Pro)
c.53A>C (p.Gln18Pro)
Xg.47574706G>ACA412824506SYN1c.1375C>T (p.Gln459Ter)
c.52C>T (p.Gln18Ter)
 gnomAD v4
Xg.47574706G>CCA412824508SYN1c.1375C>G (p.Gln459Glu)
c.52C>G (p.Gln18Glu)
Xg.47574706G>TCA412824510SYN1c.1375C>A (p.Gln459Lys)
c.52C>A (p.Gln18Lys)
 gnomAD v4
Xg.47574707C>ACA412824516SYN1c.1374G>T (p.Gln458His)
c.51G>T (p.Gln17His)
 gnomAD v4
Xg.47574707C=CA2427971388SYN1c.1374G= (p.Gln458=)
c.51G= (p.Gln17=)
Xg.47574707C>GCA412824518SYN1c.1374G>C (p.Gln458His)
c.51G>C (p.Gln17His)
Xg.47574707C>TCA329057467SYN1c.1374G>A (p.Gln458=)
c.51G>A (p.Gln17=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574708T>ACA412824519SYN1c.1373A>T (p.Gln458Leu)
c.50A>T (p.Gln17Leu)
Xg.47574708T>CCA412824521SYN1c.1373A>G (p.Gln458Arg)
c.50A>G (p.Gln17Arg)
 gnomAD v4
Xg.47574708T>GCA412824520SYN1c.1373A>C (p.Gln458Pro)
c.50A>C (p.Gln17Pro)
Xg.47574709G>ACA412824523SYN1c.1372C>T (p.Gln458Ter)
c.49C>T (p.Gln17Ter)
 gnomAD v4
Xg.47574709G>CCA318955SYN1c.1372C>G (p.Gln458Glu)
c.49C>G (p.Gln17Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574709G=CA2427971389SYN1c.1372C= (p.Gln458=)
c.49C= (p.Gln17=)
Xg.47574709G>TCA412824528SYN1c.1372C>A (p.Gln458Lys)
c.49C>A (p.Gln17Lys)
Xg.47574710A>CCA515991240SYN1c.1371T>G (p.Ala457=)
c.48T>G (p.Ala16=)
Xg.47574710A>GCA515991241SYN1c.1371T>C (p.Ala457=)
c.48T>C (p.Ala16=)
 ClinVar
Xg.47574710A>TCA515991242SYN1c.1371T>A (p.Ala457=)
c.48T>A (p.Ala16=)
Xg.47574711G>ACA412824531SYN1c.1370C>T (p.Ala457Val)
c.47C>T (p.Ala16Val)
 gnomAD v4
Xg.47574711G>CCA412824533SYN1c.1370C>G (p.Ala457Gly)
c.47C>G (p.Ala16Gly)
Xg.47574711G=CA2427971390SYN1c.1370C= (p.Ala457=)
c.47C= (p.Ala16=)
Xg.47574711G>TCA10398360SYN1c.1370C>A (p.Ala457Asp)
c.47C>A (p.Ala16Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574712C>ACA412824540SYN1c.1369G>T (p.Ala457Ser)
c.46G>T (p.Ala16Ser)
 gnomAD v4
Xg.47574712C=CA2427971391SYN1c.1369G= (p.Ala457=)
c.46G= (p.Ala16=)
Xg.47574712C>GCA10398361SYN1c.1369G>C (p.Ala457Pro)
c.46G>C (p.Ala16Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574712C>TCA412824546SYN1c.1369G>A (p.Ala457Thr)
c.46G>A (p.Ala16Thr)
 gnomAD v4
Xg.47574713C>ACA515991247SYN1c.1368G>T (p.Pro456=)
c.45G>T (p.Pro15=)
Xg.47574713C>GCA515991248SYN1c.1368G>C (p.Pro456=)
c.45G>C (p.Pro15=)
Xg.47574713C>TCA515991249SYN1c.1368G>A (p.Pro456=)
c.45G>A (p.Pro15=)
 gnomAD v4 COSMIC COSMIC
Xg.47574713_47574714delinsCGCA2427971392SYN1c.1367_1368delinsCG (p.Pro456=)
c.44_45delinsCG (p.Pro15=)
Xg.47574714G>ACA10398362SYN1c.1367C>T (p.Pro456Leu)
c.44C>T (p.Pro15Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574714G>CCA412824550SYN1c.1367C>G (p.Pro456Arg)
c.44C>G (p.Pro15Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574714G=CA2427971393SYN1c.1367C= (p.Pro456=)
c.44C= (p.Pro15=)
Xg.47574714G>TCA412824554SYN1c.1367C>A (p.Pro456Gln)
c.44C>A (p.Pro15Gln)
 gnomAD v4
Xg.47574718dupCA2820775730SYN1c.1367dup (p.Ala457GlyfsTer?)
c.44dup (p.Ala16GlyfsTer18)
Xg.47574718delCA641900907SYN1c.1367del (p.Pro456ArgfsTer?)
c.44del (p.Pro15ArgfsTer23)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.47574715G>ACA412824565SYN1c.1366C>T (p.Pro456Ser)
c.43C>T (p.Pro15Ser)
Xg.47574715G>CCA412824556SYN1c.1366C>G (p.Pro456Ala)
c.43C>G (p.Pro15Ala)
 gnomAD v4 COSMIC COSMIC
Xg.47574715G>TCA412824559SYN1c.1366C>A (p.Pro456Thr)
c.43C>A (p.Pro15Thr)
Xg.47574716G>ACA515991253SYN1c.1365C>T (p.Pro455=)
c.42C>T (p.Pro14=)
 gnomAD v4
Xg.47574716G>CCA515991254SYN1c.1365C>G (p.Pro455=)
c.42C>G (p.Pro14=)
 gnomAD v4
Xg.47574716G>TCA515991255SYN1c.1365C>A (p.Pro455=)
c.42C>A (p.Pro14=)
 gnomAD v4
Xg.47574717G>ACA412824570SYN1c.1364C>T (p.Pro455Leu)
c.41C>T (p.Pro14Leu)
 gnomAD v4
Xg.47574717G>CCA412824571SYN1c.1364C>G (p.Pro455Arg)
c.41C>G (p.Pro14Arg)
Xg.47574717G>TCA412824573SYN1c.1364C>A (p.Pro455His)
c.41C>A (p.Pro14His)
Xg.47574718G>ACA412824577SYN1c.1363C>T (p.Pro455Ser)
c.40C>T (p.Pro14Ser)
 ClinVar dbSNP
Xg.47574718G>CCA412824579SYN1c.1363C>G (p.Pro455Ala)
c.40C>G (p.Pro14Ala)
Xg.47574718G=CA2427971394SYN1c.1363C= (p.Pro455=)
c.40C= (p.Pro14=)
Xg.47574718G>TCA412824582SYN1c.1363C>A (p.Pro455Thr)
c.40C>A (p.Pro14Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574719C>ACA515991257SYN1c.1362G>T (p.Gly454=)
c.39G>T (p.Gly13=)
 gnomAD v4
Xg.47574719C=CA2427971395SYN1c.1362G= (p.Gly454=)
c.39G= (p.Gly13=)
Xg.47574719C>GCA515991258SYN1c.1362G>C (p.Gly454=)
c.39G>C (p.Gly13=)
Xg.47574719C>TCA10398363SYN1c.1362G>A (p.Gly454=)
c.39G>A (p.Gly13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574720C>ACA412824586SYN1c.1361G>T (p.Gly454Val)
c.38G>T (p.Gly13Val)
 gnomAD v4
Xg.47574720C>GCA412824588SYN1c.1361G>C (p.Gly454Ala)
c.38G>C (p.Gly13Ala)
Xg.47574720C>TCA412824590SYN1c.1361G>A (p.Gly454Glu)
c.38G>A (p.Gly13Glu)
Xg.47574721C>ACA412824592SYN1c.1360G>T (p.Gly454Trp)
c.37G>T (p.Gly13Trp)
 gnomAD v4
Xg.47574721C>GCA412824595SYN1c.1360G>C (p.Gly454Arg)
c.37G>C (p.Gly13Arg)
Xg.47574721C>TCA412824600SYN1c.1360G>A (p.Gly454Arg)
c.37G>A (p.Gly13Arg)
 gnomAD v4
Xg.47574722T>ACA515991260SYN1c.1359A>T (p.Ala453=)
c.36A>T (p.Ala12=)
 gnomAD v4
Xg.47574722T>CCA515991261SYN1c.1359A>G (p.Ala453=)
c.36A>G (p.Ala12=)
 gnomAD v4
Xg.47574722T>GCA515991262SYN1c.1359A>C (p.Ala453=)
c.36A>C (p.Ala12=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574722T=CA2427971396SYN1c.1359A= (p.Ala453=)
c.36A= (p.Ala12=)
Xg.47574723G>ACA412824605SYN1c.1358C>T (p.Ala453Val)
c.35C>T (p.Ala12Val)
Xg.47574723G>CCA412824603SYN1c.1358C>G (p.Ala453Gly)
c.35C>G (p.Ala12Gly)
Xg.47574723G>TCA412824604SYN1c.1358C>A (p.Ala453Glu)
c.35C>A (p.Ala12Glu)
 gnomAD v4
Xg.47574724C>ACA412824606SYN1c.1357G>T (p.Ala453Ser)
c.34G>T (p.Ala12Ser)
 dbSNP gnomAD v4
Xg.47574724C=CA2427971397SYN1c.1357G= (p.Ala453=)
c.34G= (p.Ala12=)
Xg.47574724C>GCA412824607SYN1c.1357G>C (p.Ala453Pro)
c.34G>C (p.Ala12Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574724C>TCA412824608SYN1c.1357G>A (p.Ala453Thr)
c.34G>A (p.Ala12Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574725G>ACA10398364SYN1c.1356C>T (p.Pro452=)
c.33C>T (p.Pro11=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574725G>CCA515991268SYN1c.1356C>G (p.Pro452=)
c.33C>G (p.Pro11=)
Xg.47574725G=CA2427971398SYN1c.1356C= (p.Pro452=)
c.33C= (p.Pro11=)
Xg.47574725G>TCA515991269SYN1c.1356C>A (p.Pro452=)
c.33C>A (p.Pro11=)
 gnomAD v4
Xg.47574726G>ACA412824609SYN1c.1355C>T (p.Pro452Leu)
c.32C>T (p.Pro11Leu)
 ClinVar dbSNP
Xg.47574726G>CCA412824611SYN1c.1355C>G (p.Pro452Arg)
c.32C>G (p.Pro11Arg)
Xg.47574726G>TCA412824614SYN1c.1355C>A (p.Pro452His)
c.32C>A (p.Pro11His)
 gnomAD v4
Xg.47574727G>ACA412824616SYN1c.1354C>T (p.Pro452Ser)
c.31C>T (p.Pro11Ser)
 ClinVar dbSNP gnomAD v4
Xg.47574727G>CCA412824617SYN1c.1354C>G (p.Pro452Ala)
c.31C>G (p.Pro11Ala)
Xg.47574727G>TCA412824620SYN1c.1354C>A (p.Pro452Thr)
c.31C>A (p.Pro11Thr)
 gnomAD v4
Xg.47574728C>ACA412824624SYN1c.1353G>T (p.Gln451His)
c.30G>T (p.Gln10His)
 gnomAD v4
Xg.47574728C>GCA412824626SYN1c.1353G>C (p.Gln451His)
c.30G>C (p.Gln10His)
Xg.47574728C>TCA515991274SYN1c.1353G>A (p.Gln451=)
c.30G>A (p.Gln10=)
 gnomAD v4
Xg.47574729T>ACA412824630SYN1c.1352A>T (p.Gln451Leu)
c.29A>T (p.Gln10Leu)
Xg.47574729T>CCA412824634SYN1c.1352A>G (p.Gln451Arg)
c.29A>G (p.Gln10Arg)
Xg.47574729T>GCA412824632SYN1c.1352A>C (p.Gln451Pro)
c.29A>C (p.Gln10Pro)
Xg.47574730G>ACA412824637SYN1c.1351C>T (p.Gln451Ter)
c.28C>T (p.Gln10Ter)
 gnomAD v4
Xg.47574730G>CCA412824644SYN1c.1351C>G (p.Gln451Glu)
c.28C>G (p.Gln10Glu)
Xg.47574730G>TCA412824641SYN1c.1351C>A (p.Gln451Lys)
c.28C>A (p.Gln10Lys)
 gnomAD v4
Xg.47574731C>ACA412824647SYN1c.1350G>T (p.Gln450His)
c.27G>T (p.Gln9His)
Xg.47574731C>GCA412824649SYN1c.1350G>C (p.Gln450His)
c.27G>C (p.Gln9His)
Xg.47574731C>TCA515991278SYN1c.1350G>A (p.Gln450=)
c.27G>A (p.Gln9=)
 gnomAD v4
Xg.47574732T>ACA412824652SYN1c.1349A>T (p.Gln450Leu)
c.26A>T (p.Gln9Leu)
Xg.47574732T>CCA412824655SYN1c.1349A>G (p.Gln450Arg)
c.26A>G (p.Gln9Arg)
 gnomAD v4
Xg.47574732T>GCA412824658SYN1c.1349A>C (p.Gln450Pro)
c.26A>C (p.Gln9Pro)
Xg.47574733G>ACA412824662SYN1c.1348C>T (p.Gln450Ter)
c.25C>T (p.Gln9Ter)
Xg.47574733G>CCA412824666SYN1c.1348C>G (p.Gln450Glu)
c.25C>G (p.Gln9Glu)
 gnomAD v4
Xg.47574733G>TCA412824668SYN1c.1348C>A (p.Gln450Lys)
c.25C>A (p.Gln9Lys)
 gnomAD v4
Xg.47574734G>ACA515991284SYN1c.1347C>T (p.Ser449=)
c.24C>T (p.Ser8=)
 gnomAD v4
Xg.47574734G>CCA515991285SYN1c.1347C>G (p.Ser449=)
c.24C>G (p.Ser8=)
Xg.47574734G>TCA515991286SYN1c.1347C>A (p.Ser449=)
c.24C>A (p.Ser8=)
Xg.47574735G>ACA412824670SYN1c.1346C>T (p.Ser449Phe)
c.23C>T (p.Ser8Phe)
Xg.47574735G>CCA412824672SYN1c.1346C>G (p.Ser449Cys)
c.23C>G (p.Ser8Cys)
Xg.47574735G>TCA412824675SYN1c.1346C>A (p.Ser449Tyr)
c.23C>A (p.Ser8Tyr)
 gnomAD v4
Xg.47574736A=CA2427971399SYN1c.1345T= (p.Ser449=)
c.22T= (p.Ser8=)
Xg.47574736A>CCA412824688SYN1c.1345T>G (p.Ser449Ala)
c.22T>G (p.Ser8Ala)
Xg.47574736A>GCA412824682SYN1c.1345T>C (p.Ser449Pro)
c.22T>C (p.Ser8Pro)
Xg.47574736A>TCA318952SYN1c.1345T>A (p.Ser449Thr)
c.22T>A (p.Ser8Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574737G>ACA515991287SYN1c.1344C>T (p.Thr448=)
c.21C>T (p.Thr7=)
 gnomAD v4
Xg.47574737G>CCA515991288SYN1c.1344C>G (p.Thr448=)
c.21C>G (p.Thr7=)
Xg.47574737G>TCA515991289SYN1c.1344C>A (p.Thr448=)
c.21C>A (p.Thr7=)
 gnomAD v4
Xg.47574738G>ACA412824690SYN1c.1343C>T (p.Thr448Ile)
c.20C>T (p.Thr7Ile)
 gnomAD v4
Xg.47574738G>CCA412824693SYN1c.1343C>G (p.Thr448Ser)
c.20C>G (p.Thr7Ser)
Xg.47574738G>TCA412824696SYN1c.1343C>A (p.Thr448Asn)
c.20C>A (p.Thr7Asn)
 gnomAD v4
Xg.47574739T>ACA10398365SYN1c.1342A>T (p.Thr448Ser)
c.19A>T (p.Thr7Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574739T>CCA412824701SYN1c.1342A>G (p.Thr448Ala)
c.19A>G (p.Thr7Ala)
 gnomAD v4
Xg.47574739T>GCA412824705SYN1c.1342A>C (p.Thr448Pro)
c.19A>C (p.Thr7Pro)
Xg.47574739T=CA2427971400SYN1c.1342A= (p.Thr448=)
c.19A= (p.Thr7=)
Xg.47574740C>ACA412824709SYN1c.1341G>T (p.Gln447His)
c.18G>T (p.Gln6His)
 gnomAD v4
Xg.47574740C>GCA412824714SYN1c.1341G>C (p.Gln447His)
c.18G>C (p.Gln6His)
Xg.47574740C>TCA515991292SYN1c.1341G>A (p.Gln447=)
c.18G>A (p.Gln6=)
 gnomAD v4
Xg.47574741T>ACA412824718SYN1c.1340A>T (p.Gln447Leu)
c.17A>T (p.Gln6Leu)
Xg.47574741T>CCA412824721SYN1c.1340A>G (p.Gln447Arg)
c.17A>G (p.Gln6Arg)
 gnomAD v4
Xg.47574741T>GCA412824724SYN1c.1340A>C (p.Gln447Pro)
c.17A>C (p.Gln6Pro)
Xg.47574742G>ACA412824738SYN1c.1339C>T (p.Gln447Ter)
c.16C>T (p.Gln6Ter)
Xg.47574742G>CCA412824733SYN1c.1339C>G (p.Gln447Glu)
c.16C>G (p.Gln6Glu)
Xg.47574742G>TCA412824730SYN1c.1339C>A (p.Gln447Lys)
c.16C>A (p.Gln6Lys)
 gnomAD v4
Xg.47574743G>ACA515991296SYN1c.1338C>T (p.Arg446=)
c.15C>T (p.Arg5=)
 ClinVar gnomAD v4
Xg.47574743G>CCA515991297SYN1c.1338C>G (p.Arg446=)
c.15C>G (p.Arg5=)
Xg.47574743G>TCA515991298SYN1c.1338C>A (p.Arg446=)
c.15C>A (p.Arg5=)
 gnomAD v4
Xg.47574744C>ACA412824747SYN1c.1337G>T (p.Arg446Leu)
c.14G>T (p.Arg5Leu)
 gnomAD v4
Xg.47574744C>GCA412824759SYN1c.1337G>C (p.Arg446Pro)
c.14G>C (p.Arg5Pro)
Xg.47574744C>TCA412824760SYN1c.1337G>A (p.Arg446His)
c.14G>A (p.Arg5His)
 gnomAD v4 COSMIC COSMIC
Xg.47574745G>ACA412824761SYN1c.1336C>T (p.Arg446Cys)
c.13C>T (p.Arg5Cys)
 gnomAD v4
Xg.47574745G>CCA412824762SYN1c.1336C>G (p.Arg446Gly)
c.13C>G (p.Arg5Gly)
Xg.47574745G>TCA412824763SYN1c.1336C>A (p.Arg446Ser)
c.13C>A (p.Arg5Ser)
 gnomAD v4
Xg.47574745_47574750delCA2580101029SYN1c.1331_1336del (p.Leu444_Arg446delinsCys)
c.8_13del (p.Leu3_Arg5delinsCys)
 ClinVar
Xg.47574746G>ACA515991300SYN1c.1335C>T (p.Gly445=)
c.12C>T (p.Gly4=)
 ClinVar dbSNP gnomAD v4
Xg.47574746G>CCA515991303SYN1c.1335C>G (p.Gly445=)
c.12C>G (p.Gly4=)
Xg.47574746G>TCA515991301SYN1c.1335C>A (p.Gly445=)
c.12C>A (p.Gly4=)
 gnomAD v4
Xg.47574747C>ACA412824771SYN1c.1334G>T (p.Gly445Val)
c.11G>T (p.Gly4Val)
 gnomAD v4
Xg.47574747C=CA2427971401SYN1c.1334G= (p.Gly445=)
c.11G= (p.Gly4=)
Xg.47574747C>GCA412824765SYN1c.1334G>C (p.Gly445Ala)
c.11G>C (p.Gly4Ala)
 dbSNP
Xg.47574747C>TCA412824767SYN1c.1334G>A (p.Gly445Asp)
c.11G>A (p.Gly4Asp)
 dbSNP gnomAD v4
Xg.47574749delCA2693585314SYN1c.1334del (p.Gly445AlafsTer?)
c.11del (p.Gly4AlafsTer?)
 gnomAD v4
Xg.47574748C>ACA412824773SYN1c.1333G>T (p.Gly445Cys)
c.10G>T (p.Gly4Cys)
 gnomAD v4
Xg.47574748C>GCA412824785SYN1c.1333G>C (p.Gly445Arg)
c.10G>C (p.Gly4Arg)
Xg.47574748C>TCA412824788SYN1c.1333G>A (p.Gly445Ser)
c.10G>A (p.Gly4Ser)
 gnomAD v4
Xg.47574749C>ACA412824790SYN1c.1332G>T (p.Leu444Phe)
c.9G>T (p.Leu3Phe)
 gnomAD v4
Xg.47574749C>GCA412824792SYN1c.1332G>C (p.Leu444Phe)
c.9G>C (p.Leu3Phe)
Xg.47574749C>TCA515991307SYN1c.1332G>A (p.Leu444=)
c.9G>A (p.Leu3=)
 gnomAD v4
Xg.47574750A>CCA412824796SYN1c.1331T>G (p.Leu444Trp)
c.8T>G (p.Leu3Trp)
Xg.47574750A>GCA412824805SYN1c.1331T>C (p.Leu444Ser)
c.8T>C (p.Leu3Ser)
 gnomAD v4
Xg.47574750A>TCA412824802SYN1c.1331T>A (p.Leu444Ter)
c.8T>A (p.Leu3Ter)
Xg.47574751delCA2693585315SYN1c.1331del (p.Leu444TrpfsTer?)
c.8del (p.Leu3TrpfsTer?)
 gnomAD v4
Xg.47574751A=CA2427971402SYN1c.1330T= (p.Leu444=)
c.7T= (p.Leu3=)
Xg.47574751A>CCA329057524SYN1c.1330T>G (p.Leu444Val)
c.7T>G (p.Leu3Val)
 ClinVar dbSNP
Xg.47574751A>GCA515991308SYN1c.1330T>C (p.Leu444=)
c.7T>C (p.Leu3=)
Xg.47574751A>TCA412824809SYN1c.1330T>A (p.Leu444Met)
c.7T>A (p.Leu3Met)
 gnomAD v4
Xg.47574752G>ACA515991309SYN1c.1329C>T (p.Pro443=)
c.6C>T (p.Pro2=)
 gnomAD v4
Xg.47574752G>CCA515991310SYN1c.1329C>G (p.Pro443=)
c.6C>G (p.Pro2=)
Xg.47574752G>TCA515991311SYN1c.1329C>A (p.Pro443=)
c.6C>A (p.Pro2=)
 gnomAD v4
Xg.47574753G>ACA412824814SYN1c.1328C>T (p.Pro443Leu)
c.5C>T (p.Pro2Leu)
Xg.47574753G>CCA412824816SYN1c.1328C>G (p.Pro443Arg)
c.5C>G (p.Pro2Arg)
Xg.47574753G>TCA412824819SYN1c.1328C>A (p.Pro443His)
c.5C>A (p.Pro2His)
 gnomAD v4
Xg.47574754G>ACA412824825SYN1c.1327C>T (p.Pro443Ser)
c.4C>T (p.Pro2Ser)
 gnomAD v4
Xg.47574754G>CCA412824827SYN1c.1327C>G (p.Pro443Ala)
c.4C>G (p.Pro2Ala)
Xg.47574754G>TCA412824830SYN1c.1327C>A (p.Pro443Thr)
c.4C>A (p.Pro2Thr)
 gnomAD v4
Xg.47574755C>ACA515991315SYN1c.1326G>T (p.Leu442=)
c.3G>T (p.Leu1=)
 gnomAD v4
Xg.47574755C=CA2427971403SYN1c.1326G= (p.Leu442=)
c.3G= (p.Leu1=)
Xg.47574755C>GCA515991313SYN1c.1326G>C (p.Leu442=)
c.3G>C (p.Leu1=)
Xg.47574755C>TCA515991314SYN1c.1326G>A (p.Leu442=)
c.3G>A (p.Leu1=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574756A=CA2427971404SYN1c.1325T= (p.Leu442=)
c.2T= (p.Leu1=)
Xg.47574756A>CCA412824832SYN1c.1325T>G (p.Leu442Arg)
c.2T>G (p.Leu1Arg)
Xg.47574756A>GCA239681SYN1c.1325T>C (p.Leu442Pro)
c.2T>C (p.Leu1Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574756A>TCA412824837SYN1c.1325T>A (p.Leu442Gln)
c.2T>A (p.Leu1Gln)
Xg.47574757G>ACA515991318SYN1c.1324C>T (p.Leu442=)
c.1C>T (p.Leu1=)
 ClinVar gnomAD v4
Xg.47574757G>CCA412824842SYN1c.1324C>G (p.Leu442Val)
c.1C>G (p.Leu1Val)
Xg.47574757G>TCA412824840SYN1c.1324C>A (p.Leu442Met)
c.1C>A (p.Leu1Met)
 gnomAD v4
Xg.47574758G>ACA10398366SYN1c.1323C>T (p.Ala441=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574758G>CCA515991319SYN1c.1323C>G (p.Ala441=)
Xg.47574758G=CA2427971405SYN1c.1323C= (p.Ala441=)
Xg.47574758G>TCA515991320SYN1c.1323C>A (p.Ala441=)
 gnomAD v4
Xg.47574759G>ACA412824850SYN1c.1322C>T (p.Ala441Val)
Xg.47574759G>CCA412824847SYN1c.1322C>G (p.Ala441Gly)
Xg.47574759G=CA2427971406SYN1c.1322C= (p.Ala441=)
Xg.47574759G>TCA412824853SYN1c.1322C>A (p.Ala441Asp)
 ClinVar dbSNP gnomAD v4
Xg.47574760C>ACA10398368SYN1c.1321G>T (p.Ala441Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574760C=CA2427971407SYN1c.1321G= (p.Ala441=)
Xg.47574760C>GCA412824854SYN1c.1321G>C (p.Ala441Pro)
Xg.47574760C>TCA10398367SYN1c.1321G>A (p.Ala441Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574763dupCA2580101030SYN1c.1321dup (p.Ala441GlyfsTer?)
 ClinVar

Number of alleles fetched